diff --git a/Makefile b/Makefile index 9d0a369..762c147 100644 --- a/Makefile +++ b/Makefile @@ -12,8 +12,8 @@ sort-%: babelon/hp-%.babelon.tsv babelon/hp-%.synonyms.tsv mv tmp/$*_synonyms_sorted.tsv babelon/hp-$*.synonyms.tsv clean-%: babelon/hp-%.babelon.tsv babelon/hp-%.synonyms.tsv - sed -E 's/\t[[:space:]]+/\t/g; s/[[:space:]]+\t/\t/g' babelon/hp-$*.babelon.tsv > temp.tsv && mv temp.tsv babelon/hp-$*.babelon.tsv - sed -E 's/\t[[:space:]]+/\t/g; s/[[:space:]]+\t/\t/g' babelon/hp-$*.synonyms.tsv > temp.tsv && mv temp.tsv babelon/hp-$*.synonyms.tsv + sed -E 's/\t[ ]+/\t/g; s/[ ]+\t/\t/g' babelon/hp-$*.babelon.tsv > temp.tsv && mv temp.tsv babelon/hp-$*.babelon.tsv + sed -E 's/\t[ ]+/\t/g; s/[ ]+\t/\t/g' babelon/hp-$*.synonyms.tsv > temp.tsv && mv temp.tsv babelon/hp-$*.synonyms.tsv clean-all: $(MAKE) clean-pt clean-de clean-fr clean-pt clean-zh diff --git a/babelon/hp-fr.synonyms.tsv b/babelon/hp-fr.synonyms.tsv index ed4c462..c9274dc 100644 --- a/babelon/hp-fr.synonyms.tsv +++ b/babelon/hp-fr.synonyms.tsv @@ -1,4 +1,5 @@ subject_id translation_value comment Status Line number +ID AL oboInOwl:hasExactSynonym@fr HP:0000003 Dysplasie rénale polykystique synonyms of HP:0000003 (Multicystic kidney dysplasia) ; abnormality of the genitourinary system OFFICIAL 1642 HP:0000005 Mode d'héritage synonyms of HP:0000005 (Mode of inheritance) ; inheritance OFFICIAL 11789 HP:0000005 Transmission synonyms of HP:0000005 (Mode of inheritance) ; inheritance OFFICIAL 1589 @@ -11814,4 +11815,3 @@ HP:3000075 Abnormality of lingual nerve synonyms of HP:3000075 (Abnormal lingual HP:3000077 Abnormality of mandible condylar process synonyms of HP:3000077 (Abnormal mandible condylar process morphology) ; abnormality of head or neck ; abnormality of the skeletal system NOT_TRANSLATED 7558 HP:3000078 Abnormality of mandible coronoid process synonyms of HP:3000078 (Abnormal mandible coronoid process morphology) ; abnormality of head or neck ; abnormality of the skeletal system NOT_TRANSLATED 7560 HP:3000079 Abnormality of mandible symphysis synonyms of HP:3000079 (Abnormality of mandibular symphysis) ; abnormality of the skeletal system NOT_TRANSLATED 7559 -ID AL oboInOwl:hasExactSynonym@fr diff --git a/babelon/hp-nl.babelon.tsv b/babelon/hp-nl.babelon.tsv index 241910b..a22ab30 100644 --- a/babelon/hp-nl.babelon.tsv +++ b/babelon/hp-nl.babelon.tsv @@ -1,31103 +1,31171 @@ -source_language translation_language subject_id predicate_id source_value translation_value translation_status -en nl HP:0032768 rdfs:label Focal aware autonomic seizure with pupillary dilation/constriction Focal aware autonomic seizure with pupillary dilation/constriction NOT_TRANSLATED -en nl HP:0032768 IAO:0000115 A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000001 rdfs:label All Alle CANDIDATE -en nl HP:0032769 rdfs:label Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration NOT_TRANSLATED -en nl HP:0032769 IAO:0000115 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000002 rdfs:label Abnormality of body height Afwijking van de lichaamslengte CANDIDATE -en nl HP:0000002 IAO:0000115 Deviation from the norm of height with respect to that which is expected according to age and gender norms Afwijking van de norm van hoogte met betrekking tot wat de verwachting is volgens leeftijds en geslachtsnormen CANDIDATE -en nl HP:0032770 rdfs:label Focal aware autonomic seizure with erection Focal aware autonomic seizure with erection NOT_TRANSLATED -en nl HP:0032770 IAO:0000115 A focal autonomic seizure with erection characterized by retained awareness throughout the seizure A focal autonomic seizure with erection characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000003 rdfs:label Multicystic kidney dysplasia Multicysteuze nierdysplasie CANDIDATE -en nl HP:0000003 IAO:0000115 Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional NOT_TRANSLATED -en nl HP:0032771 rdfs:label Focal autonomic seizure with lacrimation Focal autonomic seizure with lacrimation NOT_TRANSLATED -en nl HP:0032771 IAO:0000115 A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature NOT_TRANSLATED -en nl HP:0032772 rdfs:label Focal impaired awareness autonomic seizure with piloerection Focal impaired awareness autonomic seizure with piloerection NOT_TRANSLATED -en nl HP:0032772 IAO:0000115 A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000005 rdfs:label Mode of inheritance Overervingspatroon CANDIDATE -en nl HP:0000005 IAO:0000115 The pattern in which a particular genetic trait or disorder is passed from one generation to the next The pattern in which a particular genetic trait or disorder is passed from one generation to the next NOT_TRANSLATED -en nl HP:0032773 rdfs:label Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole NOT_TRANSLATED -en nl HP:0032773 IAO:0000115 A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature NOT_TRANSLATED -en nl HP:0000006 rdfs:label Autosomal dominant inheritance Autosomaal dominante overerving CANDIDATE -en nl HP:0000006 IAO:0000115 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele NOT_TRANSLATED -en nl HP:0032774 rdfs:label Focal impaired awareness autonomic seizure with urge to urinate/defecate Focal impaired awareness autonomic seizure with urge to urinate/defecate NOT_TRANSLATED -en nl HP:0032774 IAO:0000115 A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000007 rdfs:label Autosomal recessive inheritance Autosomaal recessieve overerving CANDIDATE -en nl HP:0000007 IAO:0000115 A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele) A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele) NOT_TRANSLATED -en nl HP:0032775 rdfs:label Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration NOT_TRANSLATED -en nl HP:0032775 IAO:0000115 An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000008 rdfs:label Abnormal morphology of female internal genitalia Afwijking van de vrouwelijke interne genitalia CANDIDATE -en nl HP:0000008 IAO:0000115 An abnormality of the female internal genitalia Een afwijking van de vrouwelijke interne genitalia CANDIDATE -en nl HP:0032776 rdfs:label Focal aware autonomic seizure with lacrimation Focal aware autonomic seizure with lacrimation NOT_TRANSLATED -en nl HP:0000009 rdfs:label Functional abnormality of the bladder Functionele afwijking van de blaas CANDIDATE -en nl HP:0000009 IAO:0000115 Dysfunction of the urinary bladder Dysfunction of the urinary bladder NOT_TRANSLATED -en nl HP:0032777 rdfs:label Focal impaired awareness autonomic seizure with pallor/flushing Focal impaired awareness autonomic seizure with pallor/flushing NOT_TRANSLATED -en nl HP:0032777 IAO:0000115 A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000010 rdfs:label Recurrent urinary tract infections Recidiverende urineweginfecties CANDIDATE -en nl HP:0000010 IAO:0000115 Repeated infections of the urinary tract Repeated infections of the urinary tract NOT_TRANSLATED -en nl HP:0032778 rdfs:label Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena NOT_TRANSLATED -en nl HP:0032778 IAO:0000115 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000011 rdfs:label Neurogenic bladder Neurogene blaas CANDIDATE -en nl HP:0000011 IAO:0000115 A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention NOT_TRANSLATED -en nl HP:0032779 rdfs:label Focal impaired awareness autonomic seizure with pupillary dilation/constriction Focal impaired awareness autonomic seizure with pupillary dilation/constriction NOT_TRANSLATED -en nl HP:0032779 IAO:0000115 A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000012 rdfs:label Urinary urgency Urinaire urgentie CANDIDATE -en nl HP:0000012 IAO:0000115 Urge incontinence is the strong, sudden need to urinate Urge incontinence is the strong, sudden need to urinate NOT_TRANSLATED -en nl HP:0032780 rdfs:label Focal impaired awareness autonomic seizure with erection Focal impaired awareness autonomic seizure with erection NOT_TRANSLATED -en nl HP:0032780 IAO:0000115 A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000013 rdfs:label Hypoplasia of the uterus Hypoplasie van de uterus CANDIDATE -en nl HP:0000013 IAO:0000115 Underdevelopment of the uterus Underdevelopment of the uterus NOT_TRANSLATED -en nl HP:0032781 rdfs:label Focal aware autonomic seizure with urge to urinate/defecate Focal aware autonomic seizure with urge to urinate/defecate NOT_TRANSLATED -en nl HP:0032781 IAO:0000115 A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000014 rdfs:label Abnormality of the bladder Afwijking van de blaas CANDIDATE -en nl HP:0000014 IAO:0000115 An abnormality of the urinary bladder Een afwijking van de urineblaas CANDIDATE -en nl HP:0032782 rdfs:label Focal impaired awareness autonomic seizure with lacrimation Focal impaired awareness autonomic seizure with lacrimation NOT_TRANSLATED -en nl HP:0032782 IAO:0000115 A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000015 rdfs:label Bladder diverticulum Blaas diverticulum CANDIDATE -en nl HP:0000015 IAO:0000115 Diverticulum (sac or pouch) in the wall of the urinary bladder Diverticulum (sac or pouch) in the wall of the urinary bladder NOT_TRANSLATED -en nl HP:0032783 rdfs:label Focal aware autonomic seizure with piloerection Focal aware autonomic seizure with piloerection NOT_TRANSLATED -en nl HP:0032783 IAO:0000115 A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000016 rdfs:label Urinary retention Urineretentie CANDIDATE -en nl HP:0000016 IAO:0000115 Inability to completely empty the urinary bladder during the process of urination Inability to completely empty the urinary bladder during the process of urination NOT_TRANSLATED -en nl HP:0032784 rdfs:label Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole NOT_TRANSLATED -en nl HP:0032784 IAO:0000115 An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000017 rdfs:label Nocturia Nycturie CANDIDATE -en nl HP:0000017 IAO:0000115 Abnormally increased production of urine during the night leading to an unusually frequent need to urinate Abnormally increased production of urine during the night leading to an unusually frequent need to urinate NOT_TRANSLATED -en nl HP:0032785 rdfs:label Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena NOT_TRANSLATED -en nl HP:0032785 IAO:0000115 A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032786 rdfs:label Migrating focal seizure Migrating focal seizure NOT_TRANSLATED -en nl HP:0032786 IAO:0000115 A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations NOT_TRANSLATED -en nl HP:0000019 rdfs:label Urinary hesitancy Urinaire aarzeling CANDIDATE -en nl HP:0000019 IAO:0000115 Difficulty in beginning the process of urination Difficulty in beginning the process of urination NOT_TRANSLATED -en nl HP:0032787 rdfs:label Focal impaired awareness sensory seizure Focal impaired awareness sensory seizure NOT_TRANSLATED -en nl HP:0032787 IAO:0000115 A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000020 rdfs:label Urinary incontinence Urine-incontinentie CANDIDATE -en nl HP:0000020 IAO:0000115 Loss of the ability to control the urinary bladder leading to involuntary urination Loss of the ability to control the urinary bladder leading to involuntary urination NOT_TRANSLATED -en nl HP:0032788 rdfs:label Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole NOT_TRANSLATED -en nl HP:0032788 IAO:0000115 A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000021 rdfs:label Megacystis Megacystis CANDIDATE -en nl HP:0000021 IAO:0000115 Dilatation of the bladder postnatally Dilatation of the bladder postnatally NOT_TRANSLATED -en nl HP:0032789 rdfs:label Focal aware behavior arrest seizure Focal aware behavior arrest seizure NOT_TRANSLATED -en nl HP:0032789 IAO:0000115 A focal behavior arrest seizure characterised by retained awareness throughout the seizure A focal behavior arrest seizure characterised by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000022 rdfs:label Abnormal male internal genitalia morphology Afwijking van mannelijke interne genitaliën CANDIDATE -en nl HP:0000022 IAO:0000115 An abnormality of the male internal genitalia Een afwijking van de mannelijke interne genitaliën CANDIDATE -en nl HP:0032790 rdfs:label Focal impaired awareness behavior arrest seizure Focal impaired awareness behavior arrest seizure NOT_TRANSLATED -en nl HP:0032790 IAO:0000115 A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000023 rdfs:label Inguinal hernia Hernia inguinalis CANDIDATE -en nl HP:0000023 IAO:0000115 Protrusion of the contents of the abdominal cavity through the inguinal canal Protrusion of the contents of the abdominal cavity through the inguinal canal NOT_TRANSLATED -en nl HP:0032791 rdfs:label Focal impaired awareness cognitive seizure with anomia Focal impaired awareness cognitive seizure with anomia NOT_TRANSLATED -en nl HP:0032791 IAO:0000115 A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000024 rdfs:label Prostatitis Prostatitis CANDIDATE -en nl HP:0000024 IAO:0000115 The presence of inflammation of the prostate The presence of inflammation of the prostate NOT_TRANSLATED -en nl HP:0032792 rdfs:label Tonic seizure Tonic seizure NOT_TRANSLATED -en nl HP:0032792 IAO:0000115 A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening NOT_TRANSLATED -en nl HP:0000025 rdfs:label Functional abnormality of male internal genitalia Functionele afwijking van de mannelijke interne genitaliën CANDIDATE -en nl HP:0032793 rdfs:label Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032793 IAO:0000115 A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000026 rdfs:label Male hypogonadism Mannelijke hypogonadisme CANDIDATE -en nl HP:0000026 IAO:0000115 Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis Verminderde functionaliteit van de mannelijke gonaden (testis) met verminderde spermatogenese en testosteronproductie CANDIDATE -en nl HP:0032794 rdfs:label Myoclonic seizure Myoclonic seizure NOT_TRANSLATED -en nl HP:0032794 IAO:0000115 A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED -en nl HP:0000027 rdfs:label Azoospermia Azoöspermie CANDIDATE -en nl HP:0000027 IAO:0000115 Absence of any measurable level of sperm in his semen Ontbreken van een meetbare hoeveelheid spermacellen in zijn semen CANDIDATE -en nl HP:0032795 rdfs:label Generalized myoclonic-tonic-clonic seizure Generalized myoclonic-tonic-clonic seizure NOT_TRANSLATED -en nl HP:0032795 IAO:0000115 A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus NOT_TRANSLATED -en nl HP:0000028 rdfs:label Cryptorchidism Cryptorchisme CANDIDATE -en nl HP:0000028 IAO:0000115 Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum NOT_TRANSLATED -en nl HP:0032796 rdfs:label Focal impaired awareness cognitive seizure with left-right confusion Focal impaired awareness cognitive seizure with left-right confusion NOT_TRANSLATED -en nl HP:0032796 IAO:0000115 A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000029 rdfs:label Testicular atrophy Testiculaire atrofie CANDIDATE -en nl HP:0000029 IAO:0000115 Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility NOT_TRANSLATED -en nl HP:0032797 rdfs:label Focal aware sensory seizure with olfactory features Focal aware sensory seizure with olfactory features NOT_TRANSLATED -en nl HP:0032797 IAO:0000115 Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant NOT_TRANSLATED -en nl HP:0000030 rdfs:label Testicular gonadoblastoma Testiculaire gonadoblastoma CANDIDATE -en nl HP:0000030 IAO:0000115 The presence of a gonadoblastoma of the testis The presence of a gonadoblastoma of the testis NOT_TRANSLATED -en nl HP:0032798 rdfs:label Focal impaired awareness cognitive seizure with neglect Focal impaired awareness cognitive seizure with neglect NOT_TRANSLATED -en nl HP:0032798 IAO:0000115 A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000031 rdfs:label Epididymitis Epididymitis CANDIDATE -en nl HP:0000031 IAO:0000115 The presence of inflammation of the epididymis De aanwezigheid van ontsteking van de bijbal CANDIDATE -en nl HP:0032799 rdfs:label Focal impaired awareness hemiclonic seizure Focal impaired awareness hemiclonic seizure NOT_TRANSLATED -en nl HP:0032799 IAO:0000115 A focal hemiclonic seizure in which awareness is impaired at some point during the seizure A focal hemiclonic seizure in which awareness is impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000032 rdfs:label Abnormality of male external genitalia Afwijking van mannelijke externe genitaliën CANDIDATE -en nl HP:0000032 IAO:0000115 An abnormality of male external genitalia Een afwijking van mannelijke externe genitaliën CANDIDATE -en nl HP:0032800 rdfs:label Focal aware sensory seizure with vestibular features Focal aware sensory seizure with vestibular features NOT_TRANSLATED -en nl HP:0032800 IAO:0000115 A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation NOT_TRANSLATED -en nl HP:0000033 rdfs:label Ambiguous genitalia, male Tweeslachtige genitaliën, mannelijke CANDIDATE -en nl HP:0000033 IAO:0000115 Ambiguous genitalia in an individual with XY genetic gender Ambiguous genitalia in an individual with XY genetic gender NOT_TRANSLATED -en nl HP:0032801 rdfs:label Focal impaired awareness cognitive seizure with memory impairment Focal impaired awareness cognitive seizure with memory impairment NOT_TRANSLATED -en nl HP:0032801 IAO:0000115 A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000034 rdfs:label Hydrocele testis Hydrocele testis CANDIDATE -en nl HP:0000034 IAO:0000115 Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis NOT_TRANSLATED -en nl HP:0032802 rdfs:label Focal impaired awareness cognitive seizure with dyscalculia/acalculia Focal impaired awareness cognitive seizure with dyscalculia/acalculia NOT_TRANSLATED -en nl HP:0032802 IAO:0000115 A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000035 rdfs:label Abnormal testis morphology Afwijking van de testis CANDIDATE -en nl HP:0000035 IAO:0000115 An anomaly of the testicle (the male gonad) An anomaly of the testicle (the male gonad) NOT_TRANSLATED -en nl HP:0032803 rdfs:label Focal impaired awareness cognitive seizure with dysgraphia/agraphia Focal impaired awareness cognitive seizure with dysgraphia/agraphia NOT_TRANSLATED -en nl HP:0032803 IAO:0000115 A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000036 rdfs:label Abnormal penis morphology Afwijking van de penis CANDIDATE -en nl HP:0000036 IAO:0000115 Abnormality of the male external sex organ Abnormality of the male external sex organ NOT_TRANSLATED -en nl HP:0032804 rdfs:label Focal impaired awareness sensory seizure with olfactory features Focal impaired awareness sensory seizure with olfactory features NOT_TRANSLATED -en nl HP:0032804 IAO:0000115 A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000037 rdfs:label Male pseudohermaphroditism Mannelijk pseudohermafroditisme CANDIDATE -en nl HP:0000037 IAO:0000115 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes NOT_TRANSLATED -en nl HP:0032805 rdfs:label Focal impaired awareness sensory seizure with vestibular features Focal impaired awareness sensory seizure with vestibular features NOT_TRANSLATED -en nl HP:0032805 IAO:0000115 A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032806 rdfs:label Focal impaired awareness sensory seizure with visual features Focal impaired awareness sensory seizure with visual features NOT_TRANSLATED -en nl HP:0032806 IAO:0000115 A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000039 rdfs:label Epispadias Epispadie CANDIDATE -en nl HP:0000039 IAO:0000115 Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias NOT_TRANSLATED -en nl HP:0032807 rdfs:label Neonatal seizure Neonatal seizure NOT_TRANSLATED -en nl HP:0032807 IAO:0000115 A seizure occurring within the neonatal period (28 days beyond the full term date) A seizure occurring within the neonatal period (28 days beyond the full term date) NOT_TRANSLATED -en nl HP:0000040 rdfs:label Long penis Lange penis CANDIDATE -en nl HP:0000040 IAO:0000115 Penile length more than 2 SD above the mean for age Penile length more than 2 SD above the mean for age NOT_TRANSLATED -en nl HP:0032808 rdfs:label Neonatal seizure with electrographic correlate Neonatal seizure with electrographic correlate NOT_TRANSLATED -en nl HP:0032808 IAO:0000115 Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation NOT_TRANSLATED -en nl HP:0000041 rdfs:label Chordee Chordee CANDIDATE -en nl HP:0000041 IAO:0000115 Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees NOT_TRANSLATED -en nl HP:0032809 rdfs:label Neonatal electro-clinical seizure Neonatal electro-clinical seizure NOT_TRANSLATED -en nl HP:0032809 IAO:0000115 Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation NOT_TRANSLATED -en nl HP:0000042 rdfs:label Absent external genitalia Afwezigheid van externe genitaliën CANDIDATE -en nl HP:0000042 IAO:0000115 Lack of external genitalia in a male or female individual Lack of external genitalia in a male or female individual NOT_TRANSLATED -en nl HP:0032810 rdfs:label Focal sensory seizure with cephalic sensation Focal sensory seizure with cephalic sensation NOT_TRANSLATED -en nl HP:0032810 IAO:0000115 A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation NOT_TRANSLATED -en nl HP:0032811 rdfs:label Neonatal electrographic only seizure Neonatal electrographic only seizure NOT_TRANSLATED -en nl HP:0032811 IAO:0000115 Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation NOT_TRANSLATED -en nl HP:0000044 rdfs:label Hypogonadotropic hypogonadism Hypogonadotroop hypogonadisme CANDIDATE -en nl HP:0000044 IAO:0000115 Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH) Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH) NOT_TRANSLATED -en nl HP:0032812 rdfs:label Neonatal electro-clinical non-motor seizure Neonatal electro-clinical non-motor seizure NOT_TRANSLATED -en nl HP:0000045 rdfs:label Abnormality of the scrotum Afwijking van het scrotum CANDIDATE -en nl HP:0032813 rdfs:label Neonatal electro-clinical motor seizure Neonatal electro-clinical motor seizure NOT_TRANSLATED -en nl HP:0032813 IAO:0000115 Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features NOT_TRANSLATED -en nl HP:0000046 rdfs:label Small scrotum Scrotale hypoplasie CANDIDATE -en nl HP:0000046 IAO:0000115 Apparently small scrotum for age Apparently small scrotum for age NOT_TRANSLATED -en nl HP:0032814 rdfs:label Neonatal electro-clinical clonic seizure Neonatal electro-clinical clonic seizure NOT_TRANSLATED -en nl HP:0032814 IAO:0000115 Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric NOT_TRANSLATED -en nl HP:0000047 rdfs:label Hypospadias Hypospadie CANDIDATE -en nl HP:0000047 IAO:0000115 Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum NOT_TRANSLATED -en nl HP:0032815 rdfs:label Neonatal electro-clinical myoclonic seizure Neonatal electro-clinical myoclonic seizure NOT_TRANSLATED -en nl HP:0032815 IAO:0000115 Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) NOT_TRANSLATED -en nl HP:0000048 rdfs:label Bifid scrotum Bifide scrotum CANDIDATE -en nl HP:0000048 IAO:0000115 Midline indentation or cleft of the scrotum Midline indentation or cleft of the scrotum NOT_TRANSLATED -en nl HP:0032816 rdfs:label Neonatal multifocal myoclonic seizure Neonatal multifocal myoclonic seizure NOT_TRANSLATED -en nl HP:0032816 IAO:0000115 Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites NOT_TRANSLATED -en nl HP:0000049 rdfs:label Shawl scrotum Shawl scrotum CANDIDATE -en nl HP:0000049 IAO:0000115 Superior margin of the scrotum superior to the base of the penis Superior margin of the scrotum superior to the base of the penis NOT_TRANSLATED -en nl HP:0032817 rdfs:label Neonatal focal myoclonic seizure Neonatal focal myoclonic seizure NOT_TRANSLATED -en nl HP:0032817 IAO:0000115 Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally NOT_TRANSLATED -en nl HP:0000050 rdfs:label Hypoplastic male external genitalia Hypoplastische mannelijke externe genitaliën CANDIDATE -en nl HP:0000050 IAO:0000115 Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra) Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra) NOT_TRANSLATED -en nl HP:0032818 rdfs:label Neonatal focal clonic seizure Neonatal focal clonic seizure NOT_TRANSLATED -en nl HP:0032818 IAO:0000115 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups NOT_TRANSLATED -en nl HP:0000051 rdfs:label Perineal hypospadias Perineale hypospadie CANDIDATE -en nl HP:0000051 IAO:0000115 Hypospadias with location of the urethral meatus in the perineal region Hypospadias with location of the urethral meatus in the perineal region NOT_TRANSLATED -en nl HP:0032819 rdfs:label Neonatal bilateral clonic seizure Neonatal bilateral clonic seizure NOT_TRANSLATED -en nl HP:0032819 IAO:0000115 Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral NOT_TRANSLATED -en nl HP:0000052 rdfs:label Urethral atresia, male Urethrale atresie, mannelijke CANDIDATE -en nl HP:0000052 IAO:0000115 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males NOT_TRANSLATED -en nl HP:0032820 rdfs:label Neonatal multifocal clonic seizure Neonatal multifocal clonic seizure NOT_TRANSLATED -en nl HP:0032820 IAO:0000115 Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites NOT_TRANSLATED -en nl HP:0000053 rdfs:label Macroorchidism Macroorchidisme CANDIDATE -en nl HP:0000053 IAO:0000115 The presence of abnormally large testes The presence of abnormally large testes NOT_TRANSLATED -en nl HP:0032821 rdfs:label Neonatal electro-clinical tonic seizure Neonatal electro-clinical tonic seizure NOT_TRANSLATED -en nl HP:0032821 IAO:0000115 Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes NOT_TRANSLATED -en nl HP:0000054 rdfs:label Micropenis Micropenis CANDIDATE -en nl HP:0000054 IAO:0000115 Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm NOT_TRANSLATED -en nl HP:0032822 rdfs:label Neonatal electro-clinical autonomic seizure Neonatal electro-clinical autonomic seizure NOT_TRANSLATED -en nl HP:0032822 IAO:0000115 Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea NOT_TRANSLATED -en nl HP:0000055 rdfs:label Abnormality of female external genitalia Afwijking van vrouwelijke externe genitaliën CANDIDATE -en nl HP:0000055 IAO:0000115 An abnormality of the female external genitalia Een afwijking van de vrouwelijke externe genitaliën CANDIDATE -en nl HP:0032823 rdfs:label Neonatal electro-clinical seizure with behavior arrest Neonatal electro-clinical seizure with behavior arrest NOT_TRANSLATED -en nl HP:0032823 IAO:0000115 Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations NOT_TRANSLATED -en nl HP:0000056 rdfs:label Abnormality of the clitoris Afwijking van de clitoris CANDIDATE -en nl HP:0000056 IAO:0000115 An abnormality of the clitoris Een afwijking van de clitoris CANDIDATE -en nl HP:0032824 rdfs:label Neonatal focal tonic seizure Neonatal focal tonic seizure NOT_TRANSLATED -en nl HP:0032824 IAO:0000115 Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes NOT_TRANSLATED -en nl HP:0032825 rdfs:label Neonatal electro-clinical sequential seizure Neonatal electro-clinical sequential seizure NOT_TRANSLATED -en nl HP:0032825 IAO:0000115 Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures NOT_TRANSLATED -en nl HP:0000058 rdfs:label Abnormal labia morphology Afwijking van de labia CANDIDATE -en nl HP:0000058 IAO:0000115 An anomaly of the labia, the externally visible portions of the vulva An anomaly of the labia, the externally visible portions of the vulva NOT_TRANSLATED -en nl HP:0032826 rdfs:label Focal neonatal sequential seizure Focal neonatal sequential seizure NOT_TRANSLATED -en nl HP:0032826 IAO:0000115 Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures NOT_TRANSLATED -en nl HP:0000059 rdfs:label Hypoplastic labia majora Hypoplastische labia majora CANDIDATE -en nl HP:0000059 IAO:0000115 Undergrowth of the outer labia Undergrowth of the outer labia NOT_TRANSLATED -en nl HP:0032827 rdfs:label Multifocal neonatal sequential seizure Multifocal neonatal sequential seizure NOT_TRANSLATED -en nl HP:0032827 IAO:0000115 Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs NOT_TRANSLATED -en nl HP:0000060 rdfs:label Clitoral hypoplasia Clitorale hypoplasie CANDIDATE -en nl HP:0000060 IAO:0000115 Developmental hypoplasia of the clitoris Developmental hypoplasia of the clitoris NOT_TRANSLATED -en nl HP:0032828 rdfs:label Neonatal bilateral symmetric tonic seizure Neonatal bilateral symmetric tonic seizure NOT_TRANSLATED -en nl HP:0032828 IAO:0000115 Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically NOT_TRANSLATED -en nl HP:0000061 rdfs:label Ambiguous genitalia, female Tweeslachtige genitaliën, vrouwelijke CANDIDATE -en nl HP:0000061 IAO:0000115 Ambiguous genitalia in an individual with XX genetic gender Ambiguous genitalia in an individual with XX genetic gender NOT_TRANSLATED -en nl HP:0032829 rdfs:label Neonatal electro-clinical motor seizure with automatism Neonatal electro-clinical motor seizure with automatism NOT_TRANSLATED -en nl HP:0032829 IAO:0000115 Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features NOT_TRANSLATED -en nl HP:0000062 rdfs:label Ambiguous genitalia Tweeslachtige genitaliën CANDIDATE -en nl HP:0000062 IAO:0000115 A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4 A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4 NOT_TRANSLATED -en nl HP:0032830 rdfs:label Neonatal seizure with bilateral asymmetric automatism Neonatal seizure with bilateral asymmetric automatism NOT_TRANSLATED -en nl HP:0032830 IAO:0000115 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically NOT_TRANSLATED -en nl HP:0000063 rdfs:label Fused labia minora Verkleefde schaamlippen CANDIDATE -en nl HP:0000063 IAO:0000115 Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction NOT_TRANSLATED -en nl HP:0032831 rdfs:label Neonatal bilateral asymmetric tonic seizure Neonatal bilateral asymmetric tonic seizure NOT_TRANSLATED -en nl HP:0032831 IAO:0000115 Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically NOT_TRANSLATED -en nl HP:0000064 rdfs:label Hypoplastic labia minora Hypoplastische labia minora CANDIDATE -en nl HP:0032832 rdfs:label Neonatal bilateral asymmetric myoclonic seizure Neonatal bilateral asymmetric myoclonic seizure NOT_TRANSLATED -en nl HP:0032832 IAO:0000115 Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically NOT_TRANSLATED -en nl HP:0000065 rdfs:label Labial hypertrophy Labiale hypertrofie CANDIDATE -en nl HP:0032833 rdfs:label Neonatal epileptic spasm Neonatal epileptic spasm NOT_TRANSLATED -en nl HP:0032833 IAO:0000115 A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters NOT_TRANSLATED -en nl HP:0000066 rdfs:label Labial hypoplasia Labiale hypoplasie CANDIDATE -en nl HP:0032834 rdfs:label Neonatal seizure with unilateral automatism Neonatal seizure with unilateral automatism NOT_TRANSLATED -en nl HP:0032834 IAO:0000115 Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body NOT_TRANSLATED -en nl HP:0000067 rdfs:label Urethral atresia, female Urethrale atresie, vrouwelijke CANDIDATE -en nl HP:0000067 IAO:0000115 Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females NOT_TRANSLATED -en nl HP:0032835 rdfs:label Neonatal seizure with bilateral symmetric automatism Neonatal seizure with bilateral symmetric automatism NOT_TRANSLATED -en nl HP:0032835 IAO:0000115 Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically NOT_TRANSLATED -en nl HP:0000068 rdfs:label Urethral atresia Urethrale atresie CANDIDATE -en nl HP:0000068 IAO:0000115 Congenital anomaly characterized by closure or failure to develop an opening in the urethra Congenital anomaly characterized by closure or failure to develop an opening in the urethra NOT_TRANSLATED -en nl HP:0032836 rdfs:label Neonatal bilateral symmetric myoclonic seizure Neonatal bilateral symmetric myoclonic seizure NOT_TRANSLATED -en nl HP:0032836 IAO:0000115 Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically NOT_TRANSLATED -en nl HP:0000069 rdfs:label Abnormality of the ureter Afwijking van de ureter CANDIDATE -en nl HP:0000069 IAO:0000115 An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder Een afwijking van de ureter CANDIDATE -en nl HP:0032837 rdfs:label Bilateral asymmetric neonatal sequential seizure Bilateral asymmetric neonatal sequential seizure NOT_TRANSLATED -en nl HP:0032837 IAO:0000115 Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures NOT_TRANSLATED -en nl HP:0000070 rdfs:label Ureterocele Ureterocèle CANDIDATE -en nl HP:0000070 IAO:0000115 A ureterocele is a congenital saccular dilatation of the distal segment of the ureter A ureterocele is a congenital saccular dilatation of the distal segment of the ureter NOT_TRANSLATED -en nl HP:0032838 rdfs:label Neonatal unilateral epileptic spasm Neonatal unilateral epileptic spasm NOT_TRANSLATED -en nl HP:0032838 IAO:0000115 Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body NOT_TRANSLATED -en nl HP:0000071 rdfs:label Ureteral stenosis Ureterale stenose CANDIDATE -en nl HP:0000071 IAO:0000115 The presence of a stenotic, i.e., constricted ureter The presence of a stenotic, i.e., constricted ureter NOT_TRANSLATED -en nl HP:0032839 rdfs:label Bilateral symmetric neonatal sequential seizure Bilateral symmetric neonatal sequential seizure NOT_TRANSLATED -en nl HP:0032839 IAO:0000115 Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs NOT_TRANSLATED -en nl HP:0000072 rdfs:label Hydroureter Hydroureter CANDIDATE -en nl HP:0000072 IAO:0000115 The distention of the ureter with urine The distention of the ureter with urine NOT_TRANSLATED -en nl HP:0032840 rdfs:label Neonatal bilateral symmetric epileptic spasm Neonatal bilateral symmetric epileptic spasm NOT_TRANSLATED -en nl HP:0032840 IAO:0000115 Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body NOT_TRANSLATED -en nl HP:0000073 rdfs:label Ureteral duplication Ureterale duplicatie CANDIDATE -en nl HP:0000073 IAO:0000115 A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder NOT_TRANSLATED -en nl HP:0032841 rdfs:label Neonatal bilateral asymmetric epileptic spasm Neonatal bilateral asymmetric epileptic spasm NOT_TRANSLATED -en nl HP:0032841 IAO:0000115 Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body NOT_TRANSLATED -en nl HP:0000074 rdfs:label Ureteropelvic junction obstruction Ureteropelviene junctie obstructie CANDIDATE -en nl HP:0000074 IAO:0000115 Blockage of urine flow from the renal pelvis to the proximal ureter Blockage of urine flow from the renal pelvis to the proximal ureter NOT_TRANSLATED -en nl HP:0032842 rdfs:label Generalized-onset epileptic spasm Generalized-onset epileptic spasm NOT_TRANSLATED -en nl HP:0032842 IAO:0000115 A type of epileptic spasm of generalized onset A type of epileptic spasm of generalized onset NOT_TRANSLATED -en nl HP:0000075 rdfs:label Renal duplication Renale duplicatie CANDIDATE -en nl HP:0000075 IAO:0000115 A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters NOT_TRANSLATED -en nl HP:0032843 rdfs:label Focal-onset epileptic spasm Focal-onset epileptic spasm NOT_TRANSLATED -en nl HP:0032843 IAO:0000115 A type of epileptic spasm of focal onset A type of epileptic spasm of focal onset NOT_TRANSLATED -en nl HP:0000076 rdfs:label Vesicoureteral reflux Vesicoureterale reflux CANDIDATE -en nl HP:0000076 IAO:0000115 Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes NOT_TRANSLATED -en nl HP:0032844 rdfs:label Focal impaired awareness epileptic spasm Focal impaired awareness epileptic spasm NOT_TRANSLATED -en nl HP:0032844 IAO:0000115 A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000077 rdfs:label Abnormality of the kidney Afwijking van de nieren CANDIDATE -en nl HP:0000077 IAO:0000115 An abnormality of the kidney Een afwijking van de nieren CANDIDATE -en nl HP:0032845 rdfs:label Focal aware epileptic spasm Focal aware epileptic spasm NOT_TRANSLATED -en nl HP:0032845 IAO:0000115 A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure NOT_TRANSLATED -en nl HP:0000078 rdfs:label Abnormality of the genital system Afwijking van het genitaal systeem CANDIDATE -en nl HP:0000078 IAO:0000115 An abnormality of the genital system Een afwijking van het genitaal systeem CANDIDATE -en nl HP:0032846 rdfs:label Focal motor seizure with negative myoclonus Focal motor seizure with negative myoclonus NOT_TRANSLATED -en nl HP:0032846 IAO:0000115 A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure NOT_TRANSLATED -en nl HP:0000079 rdfs:label Abnormality of the urinary system Afwijking van de urinewegen CANDIDATE -en nl HP:0000079 IAO:0000115 An abnormality of the urinary system Een afwijking van de urinewegen CANDIDATE -en nl HP:0032847 rdfs:label Focal impaired awareness hemifacial clonic seizure Focal impaired awareness hemifacial clonic seizure NOT_TRANSLATED -en nl HP:0032847 IAO:0000115 Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000080 rdfs:label Abnormality of reproductive system physiology Afwijking van reproductieve systeem fysiologie CANDIDATE -en nl HP:0000080 IAO:0000115 An abnormal functionality of the genital system An abnormal functionality of the genital system NOT_TRANSLATED -en nl HP:0032848 rdfs:label Focal aware cognitive seizure with neglect Focal aware cognitive seizure with neglect NOT_TRANSLATED -en nl HP:0032848 IAO:0000115 A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000081 rdfs:label Duplicated collecting system Gedupliceerd verzamelsysteem CANDIDATE -en nl HP:0000081 IAO:0000115 A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice NOT_TRANSLATED -en nl HP:0032849 rdfs:label Aphasic status epilepticus Aphasic status epilepticus NOT_TRANSLATED -en nl HP:0032849 IAO:0000115 Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit NOT_TRANSLATED -en nl HP:0032850 rdfs:label Focal aware cognitive seizure with expressive dysphasia/aphasia Focal aware cognitive seizure with expressive dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032850 IAO:0000115 A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000083 rdfs:label Renal insufficiency Nierinsufficiëntie CANDIDATE -en nl HP:0000083 IAO:0000115 A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism NOT_TRANSLATED -en nl HP:0032851 rdfs:label Focal aware sensory seizure with visual features Focal aware sensory seizure with visual features NOT_TRANSLATED -en nl HP:0032851 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis NOT_TRANSLATED -en nl HP:0032852 rdfs:label Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032852 IAO:0000115 A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000085 rdfs:label Horseshoe kidney Hoefijzernier CANDIDATE -en nl HP:0000085 IAO:0000115 A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline NOT_TRANSLATED -en nl HP:0032853 rdfs:label Focal impaired awareness sensory seizure with hot-cold sensations Focal impaired awareness sensory seizure with hot-cold sensations NOT_TRANSLATED -en nl HP:0032853 IAO:0000115 A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000086 rdfs:label Ectopic kidney Ectopische nier CANDIDATE -en nl HP:0000086 IAO:0000115 A developmental defect in which a kidney is located in an abnormal anatomic position A developmental defect in which a kidney is located in an abnormal anatomic position NOT_TRANSLATED -en nl HP:0032854 rdfs:label Focal aware hemifacial clonic seizure Focal aware hemifacial clonic seizure NOT_TRANSLATED -en nl HP:0032854 IAO:0000115 Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout NOT_TRANSLATED -en nl HP:0032855 rdfs:label Photosensitive myoclonic-tonic-clonic seizure Photosensitive myoclonic-tonic-clonic seizure NOT_TRANSLATED -en nl HP:0032855 IAO:0000115 Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light NOT_TRANSLATED -en nl HP:0032856 rdfs:label Focal aware bilateral motor seizure Focal aware bilateral motor seizure NOT_TRANSLATED -en nl HP:0032856 IAO:0000115 A type of focal bilateral motor seizure during which awareness is fully retained throughout A type of focal bilateral motor seizure during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000089 rdfs:label Renal hypoplasia Renale hypoplasie CANDIDATE -en nl HP:0000089 IAO:0000115 Hypoplasia of the kidney Hypoplasie van de nier CANDIDATE -en nl HP:0032857 rdfs:label Focal aware motor seizure with negative myoclonus Focal aware motor seizure with negative myoclonus NOT_TRANSLATED -en nl HP:0032857 IAO:0000115 A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000090 rdfs:label Nephronophthisis Nefronoftise CANDIDATE -en nl HP:0000090 IAO:0000115 Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis NOT_TRANSLATED -en nl HP:0032858 rdfs:label Focal impaired awareness motor seizure with negative myoclonus Focal impaired awareness motor seizure with negative myoclonus NOT_TRANSLATED -en nl HP:0032858 IAO:0000115 A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000091 rdfs:label Abnormal renal tubule morphology Afwijking van de niertubulus CANDIDATE -en nl HP:0000091 IAO:0000115 An abnormality of the renal tubules An abnormality of the renal tubules NOT_TRANSLATED -en nl HP:0032859 rdfs:label Focal impaired awareness motor seizure with paresis/paralysis Focal impaired awareness motor seizure with paresis/paralysis NOT_TRANSLATED -en nl HP:0032859 IAO:0000115 A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000092 rdfs:label Renal tubular atrophy Tubulaire atrofie CANDIDATE -en nl HP:0000092 IAO:0000115 The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules NOT_TRANSLATED -en nl HP:0032860 rdfs:label Generalized non-convulsive status epilepticus without coma Generalized non-convulsive status epilepticus without coma NOT_TRANSLATED -en nl HP:0032860 IAO:0000115 Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure NOT_TRANSLATED -en nl HP:0000093 rdfs:label Proteinuria Proteïnurie CANDIDATE -en nl HP:0000093 IAO:0000115 Increased levels of protein in the urine Increased levels of protein in the urine NOT_TRANSLATED -en nl HP:0032861 rdfs:label Focal non-convulsive status epilepticus with impairment of consciousness Focal non-convulsive status epilepticus with impairment of consciousness NOT_TRANSLATED -en nl HP:0032861 IAO:0000115 Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired NOT_TRANSLATED -en nl HP:0032862 rdfs:label Status epilepticus with ictal paresis Status epilepticus with ictal paresis NOT_TRANSLATED -en nl HP:0032862 IAO:0000115 A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures NOT_TRANSLATED -en nl HP:0000095 rdfs:label Abnormal renal glomerulus morphology Afwijking van de glomerulus CANDIDATE -en nl HP:0000095 IAO:0000115 A structural anomaly of the glomerulus A structural anomaly of the glomerulus NOT_TRANSLATED -en nl HP:0032863 rdfs:label Typical absence status epilepticus Typical absence status epilepticus NOT_TRANSLATED -en nl HP:0032863 IAO:0000115 Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure NOT_TRANSLATED -en nl HP:0000096 rdfs:label Glomerular sclerosis Glomerulosclerosis CANDIDATE -en nl HP:0000096 IAO:0000115 Accumulation of scar tissue within the glomerulus Accumulation of scar tissue within the glomerulus NOT_TRANSLATED -en nl HP:0032864 rdfs:label Focal aware sensory seizure with auditory features Focal aware sensory seizure with auditory features NOT_TRANSLATED -en nl HP:0032864 IAO:0000115 A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure NOT_TRANSLATED -en nl HP:0000097 rdfs:label Focal segmental glomerulosclerosis Focale segmentale glomerulosclerosis CANDIDATE -en nl HP:0000097 IAO:0000115 Segmental accumulation of scar tissue in individual (but not all) glomeruli Segmental accumulation of scar tissue in individual (but not all) glomeruli NOT_TRANSLATED -en nl HP:0032865 rdfs:label Myoclonic absence status epilepticus Myoclonic absence status epilepticus NOT_TRANSLATED -en nl HP:0032865 IAO:0000115 Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG NOT_TRANSLATED -en nl HP:0000098 rdfs:label Tall stature Lange lengte CANDIDATE -en nl HP:0000098 IAO:0000115 A height above that which is expected according to age and gender norms A height above that which is expected according to age and gender norms NOT_TRANSLATED -en nl HP:0032866 rdfs:label Oculoclonic status epilepticus Oculoclonic status epilepticus NOT_TRANSLATED -en nl HP:0032866 IAO:0000115 A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges NOT_TRANSLATED -en nl HP:0000099 rdfs:label Glomerulonephritis Glomerulonefritis CANDIDATE -en nl HP:0000099 IAO:0000115 Inflammation of the renal glomeruli Inflammation of the renal glomeruli NOT_TRANSLATED -en nl HP:0032867 rdfs:label Refractory status epilepticus Refractory status epilepticus NOT_TRANSLATED -en nl HP:0032867 IAO:0000115 Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine NOT_TRANSLATED -en nl HP:0000100 rdfs:label Nephrotic syndrome Nefrotisch syndroom CANDIDATE -en nl HP:0000100 IAO:0000115 Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia NOT_TRANSLATED -en nl HP:0032868 rdfs:label Super-refractory status epilepticus Super-refractory status epilepticus NOT_TRANSLATED -en nl HP:0032868 IAO:0000115 Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent NOT_TRANSLATED -en nl HP:0032869 rdfs:label Focal non-convulsive status epilepticus without impairment of consciousness Focal non-convulsive status epilepticus without impairment of consciousness NOT_TRANSLATED -en nl HP:0032869 IAO:0000115 Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact NOT_TRANSLATED -en nl HP:0032870 rdfs:label Focal impaired awareness cognitive seizure with dyslexia/alexia Focal impaired awareness cognitive seizure with dyslexia/alexia NOT_TRANSLATED -en nl HP:0032870 IAO:0000115 A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000103 rdfs:label Polyuria Polyurie CANDIDATE -en nl HP:0000103 IAO:0000115 An increased rate of urine production An increased rate of urine production NOT_TRANSLATED -en nl HP:0032871 rdfs:label Focal aware cognitive seizure with hallucination Focal aware cognitive seizure with hallucination NOT_TRANSLATED -en nl HP:0032871 IAO:0000115 A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000104 rdfs:label Renal agenesis Nieragenesie CANDIDATE -en nl HP:0000104 IAO:0000115 Agenesis, that is, failure of the kidney to develop during embryogenesis and development Agenesis, that is, failure of the kidney to develop during embryogenesis and development NOT_TRANSLATED -en nl HP:0032872 rdfs:label Focal impaired awareness cognitive seizure with illusion Focal impaired awareness cognitive seizure with illusion NOT_TRANSLATED -en nl HP:0032872 IAO:0000115 A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000105 rdfs:label Enlarged kidney Vergrote nier CANDIDATE -en nl HP:0000105 IAO:0000115 An abnormal increase in the size of the kidney An abnormal increase in the size of the kidney NOT_TRANSLATED -en nl HP:0032873 rdfs:label Focal aware sensory seizure with cephalic sensation Focal aware sensory seizure with cephalic sensation NOT_TRANSLATED -en nl HP:0032873 IAO:0000115 A seizure characterized by a sensation in the head such as light-headedness or headache A seizure characterized by a sensation in the head such as light-headedness or headache NOT_TRANSLATED -en nl HP:0032874 rdfs:label Focal impaired awareness cognitive seizure with auditory agnosia Focal impaired awareness cognitive seizure with auditory agnosia NOT_TRANSLATED -en nl HP:0032874 IAO:0000115 A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000107 rdfs:label Renal cyst Renale cyste CANDIDATE -en nl HP:0000107 IAO:0000115 A fluid filled sac in the kidney A fluid filled sac in the kidney NOT_TRANSLATED -en nl HP:0000108 rdfs:label Renal corticomedullary cysts Renale corticomedullaire cysten CANDIDATE -en nl HP:0000108 IAO:0000115 The presence of multiple cysts at the border between the renal cortex and medulla The presence of multiple cysts at the border between the renal cortex and medulla NOT_TRANSLATED -en nl HP:0032876 rdfs:label Focal aware cognitive seizure with conduction dysphasia/aphasia Focal aware cognitive seizure with conduction dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032876 IAO:0000115 A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032877 rdfs:label Focal aware sensory seizure with hot-cold sensations Focal aware sensory seizure with hot-cold sensations NOT_TRANSLATED -en nl HP:0032877 IAO:0000115 A seizure characterized by sensations of feeling hot and then cold A seizure characterized by sensations of feeling hot and then cold NOT_TRANSLATED -en nl HP:0000110 rdfs:label Renal dysplasia Renale dysplasie CANDIDATE -en nl HP:0000110 IAO:0000115 The presence of developmental dysplasia of the kidney The presence of developmental dysplasia of the kidney NOT_TRANSLATED -en nl HP:0032878 rdfs:label Focal impaired awareness sensory seizure with cephalic sensation Focal impaired awareness sensory seizure with cephalic sensation NOT_TRANSLATED -en nl HP:0032878 IAO:0000115 A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000111 rdfs:label Renal juxtaglomerular cell hypertrophy/hyperplasia Renale juxtaglomerulaire cel hypertrofie/hyperplasie CANDIDATE -en nl HP:0000111 IAO:0000115 Increased number and size of the juxtaglomerular cells Increased number and size of the juxtaglomerular cells NOT_TRANSLATED -en nl HP:0032879 rdfs:label Focal impaired awareness seizure with dissociation at onset Focal impaired awareness seizure with dissociation at onset NOT_TRANSLATED -en nl HP:0032879 IAO:0000115 A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure NOT_TRANSLATED -en nl HP:0000112 rdfs:label Nephropathy Nefropathie CANDIDATE -en nl HP:0000112 IAO:0000115 A nonspecific term referring to disease or damage of the kidneys A nonspecific term referring to disease or damage of the kidneys NOT_TRANSLATED -en nl HP:0032880 rdfs:label Focal impaired awareness sensory seizure with auditory features Focal impaired awareness sensory seizure with auditory features NOT_TRANSLATED -en nl HP:0032880 IAO:0000115 A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000113 rdfs:label Polycystic kidney dysplasia Polycysteuze nierdysplasie CANDIDATE -en nl HP:0000113 IAO:0000115 The presence of multiple cysts in both kidneys The presence of multiple cysts in both kidneys NOT_TRANSLATED -en nl HP:0000114 rdfs:label Proximal tubulopathy Proximale tubulopathie CANDIDATE -en nl HP:0000114 IAO:0000115 Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle NOT_TRANSLATED -en nl HP:0032882 rdfs:label Focal impaired awareness cognitive seizure with deja vu/jamais vu Focal impaired awareness cognitive seizure with deja vu/jamais vu NOT_TRANSLATED -en nl HP:0032882 IAO:0000115 A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0032883 rdfs:label Focal aware cognitive seizure with deja vu/jamais vu Focal aware cognitive seizure with deja vu/jamais vu NOT_TRANSLATED -en nl HP:0032883 IAO:0000115 A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032884 rdfs:label Focal aware sensory seizure with somatosensory features Focal aware sensory seizure with somatosensory features NOT_TRANSLATED -en nl HP:0032884 IAO:0000115 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure NOT_TRANSLATED -en nl HP:0000117 rdfs:label Renal phosphate wasting Renale fosfaatverspilling CANDIDATE -en nl HP:0000117 IAO:0000115 High urine phosphate in the presence of hypophosphatemia High urine phosphate in the presence of hypophosphatemia NOT_TRANSLATED -en nl HP:0032885 rdfs:label Focal impaired awareness cognitive seizure with hallucination Focal impaired awareness cognitive seizure with hallucination NOT_TRANSLATED -en nl HP:0032885 IAO:0000115 A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000118 rdfs:label Phenotypic abnormality Fenotypische abnormaliteit CANDIDATE -en nl HP:0000118 IAO:0000115 A phenotypic abnormality A phenotypic abnormality NOT_TRANSLATED -en nl HP:0032886 rdfs:label Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032886 IAO:0000115 A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000119 rdfs:label Abnormality of the genitourinary system Afwijking van het urogenitaal systeem CANDIDATE -en nl HP:0000119 IAO:0000115 The presence of any abnormality of the genitourinary system The presence of any abnormality of the genitourinary system NOT_TRANSLATED -en nl HP:0032887 rdfs:label Generalized atonic seizure Generalized atonic seizure NOT_TRANSLATED -en nl HP:0032887 IAO:0000115 Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature NOT_TRANSLATED -en nl HP:0032888 rdfs:label Focal impaired awareness cognitive seizure with forced thinking Focal impaired awareness cognitive seizure with forced thinking NOT_TRANSLATED -en nl HP:0032888 IAO:0000115 A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0000121 rdfs:label Nephrocalcinosis Nephrocalcinosis CANDIDATE -en nl HP:0000121 IAO:0000115 Nephrocalcinosis is the deposition of calcium salts in renal parenchyma Nephrocalcinosis is the deposition of calcium salts in renal parenchyma NOT_TRANSLATED -en nl HP:0032889 rdfs:label Focal aware sensory seizure with gustatory features Focal aware sensory seizure with gustatory features NOT_TRANSLATED -en nl HP:0032889 IAO:0000115 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes NOT_TRANSLATED -en nl HP:0000122 rdfs:label Unilateral renal agenesis Unilaterale renale agenesie CANDIDATE -en nl HP:0000122 IAO:0000115 A unilateral form of agenesis of the kidney A unilateral form of agenesis of the kidney NOT_TRANSLATED -en nl HP:0032890 rdfs:label Focal impaired awareness sensory seizure with somatosensory features Focal impaired awareness sensory seizure with somatosensory features NOT_TRANSLATED -en nl HP:0032890 IAO:0000115 A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000123 rdfs:label Nephritis Nefritis CANDIDATE -en nl HP:0000123 IAO:0000115 The presence of inflammation affecting the kidney The presence of inflammation affecting the kidney NOT_TRANSLATED -en nl HP:0032891 rdfs:label Focal aware motor seizure with version Focal aware motor seizure with version NOT_TRANSLATED -en nl HP:0032891 IAO:0000115 A focal motor seizure with version characterized by retained awareness throughout the seizure A focal motor seizure with version characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0000124 rdfs:label Renal tubular dysfunction Renale tubulaire dysfunctie CANDIDATE -en nl HP:0000124 IAO:0000115 Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid NOT_TRANSLATED -en nl HP:0032892 rdfs:label Infection-related seizure Infection-related seizure NOT_TRANSLATED -en nl HP:0032892 IAO:0000115 Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever NOT_TRANSLATED -en nl HP:0000125 rdfs:label Pelvic kidney Nierbekken CANDIDATE -en nl HP:0000125 IAO:0000115 A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis NOT_TRANSLATED -en nl HP:0032893 rdfs:label Gastroenteritis-related afebrile seizure Gastroenteritis-related afebrile seizure NOT_TRANSLATED -en nl HP:0032893 IAO:0000115 Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause NOT_TRANSLATED -en nl HP:0000126 rdfs:label Hydronephrosis Hydronefrosis CANDIDATE -en nl HP:0000126 IAO:0000115 Severe distention of the kidney with dilation of the renal pelvis and calices Severe distention of the kidney with dilation of the renal pelvis and calices NOT_TRANSLATED -en nl HP:0032894 rdfs:label Seizure precipitated by febrile infection Seizure precipitated by febrile infection NOT_TRANSLATED -en nl HP:0032894 IAO:0000115 Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age NOT_TRANSLATED -en nl HP:0000127 rdfs:label Renal salt wasting Renaal zoutverlies CANDIDATE -en nl HP:0000127 IAO:0000115 A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s) A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s) NOT_TRANSLATED -en nl HP:0032895 rdfs:label Febrile seizure outside the age of 3 months to 6 years Febrile seizure outside the age of 3 months to 6 years NOT_TRANSLATED -en nl HP:0032895 IAO:0000115 Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure NOT_TRANSLATED -en nl HP:0000128 rdfs:label Renal potassium wasting Renaal kaliumverlies CANDIDATE -en nl HP:0000128 IAO:0000115 High urine potassium in the presence of hypokalemia High urine potassium in the presence of hypokalemia NOT_TRANSLATED -en nl HP:0032896 rdfs:label Music-induced seizure Music-induced seizure NOT_TRANSLATED -en nl HP:0032896 IAO:0000115 Seizure precipitated by listening to music or other complex sounds Seizure precipitated by listening to music or other complex sounds NOT_TRANSLATED -en nl HP:0032897 rdfs:label Focal impaired awareness sensory seizure with gustatory features Focal impaired awareness sensory seizure with gustatory features NOT_TRANSLATED -en nl HP:0032897 IAO:0000115 A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000130 rdfs:label Abnormality of the uterus Afwijking van de uterus CANDIDATE -en nl HP:0000130 IAO:0000115 An abnormality of the uterus Een afwijking van de uterus CANDIDATE -en nl HP:0032898 rdfs:label Focal automatism seizure Focal automatism seizure NOT_TRANSLATED -en nl HP:0032898 IAO:0000115 A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity NOT_TRANSLATED -en nl HP:0000131 rdfs:label Uterine leiomyoma Uteriene leiomyoma CANDIDATE -en nl HP:0000131 IAO:0000115 The presence of a leiomyoma of the uterus The presence of a leiomyoma of the uterus NOT_TRANSLATED -en nl HP:0032899 rdfs:label Focal orofacial automatism seizure Focal orofacial automatism seizure NOT_TRANSLATED -en nl HP:0032899 IAO:0000115 A type of focal automatism seizure characterized by orofacial automatisms at onset A type of focal automatism seizure characterized by orofacial automatisms at onset NOT_TRANSLATED -en nl HP:0000132 rdfs:label Menorrhagia Menorragie CANDIDATE -en nl HP:0000132 IAO:0000115 Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days NOT_TRANSLATED -en nl HP:0032900 rdfs:label Focal manual automatism seizure Focal manual automatism seizure NOT_TRANSLATED -en nl HP:0032900 IAO:0000115 A type of focal automatism seizure characterized by manual automatisms at onset A type of focal automatism seizure characterized by manual automatisms at onset NOT_TRANSLATED -en nl HP:0000133 rdfs:label Gonadal dysgenesis Gonadale dysgenesie CANDIDATE -en nl HP:0032901 rdfs:label Focal pedal automatism seizure Focal pedal automatism seizure NOT_TRANSLATED -en nl HP:0032901 IAO:0000115 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs NOT_TRANSLATED -en nl HP:0000134 rdfs:label Female hypogonadism Vrouwelijk hypogonadisme CANDIDATE -en nl HP:0000134 IAO:0000115 Decreased functionality of the female gonads, i.e., of the ovary Decreased functionality of the female gonads, i.e., of the ovary NOT_TRANSLATED -en nl HP:0032902 rdfs:label Focal perseverative automatism seizure Focal perseverative automatism seizure NOT_TRANSLATED -en nl HP:0032902 IAO:0000115 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset NOT_TRANSLATED -en nl HP:0000135 rdfs:label Hypogonadism Hypogonadisme CANDIDATE -en nl HP:0000135 IAO:0000115 A decreased functionality of the gonad A decreased functionality of the gonad NOT_TRANSLATED -en nl HP:0032903 rdfs:label Focal vocal automatism seizure Focal vocal automatism seizure NOT_TRANSLATED -en nl HP:0032903 IAO:0000115 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset NOT_TRANSLATED -en nl HP:0000136 rdfs:label Bifid uterus Bifide uterus CANDIDATE -en nl HP:0000136 IAO:0000115 The presence of a bifid uterus De aanwezigheid van een bifide uterus CANDIDATE -en nl HP:0032904 rdfs:label Focal verbal automatism seizure Focal verbal automatism seizure NOT_TRANSLATED -en nl HP:0032904 IAO:0000115 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset NOT_TRANSLATED -en nl HP:0000137 rdfs:label Abnormality of the ovary Afwijking van de eierstok CANDIDATE -en nl HP:0000137 IAO:0000115 An abnormality of the ovary An abnormality of the ovary NOT_TRANSLATED -en nl HP:0032905 rdfs:label Focal sexual automatism seizure Focal sexual automatism seizure NOT_TRANSLATED -en nl HP:0032905 IAO:0000115 A type of focal automatism seizure characterized by involuntary sexual behavior at onset A type of focal automatism seizure characterized by involuntary sexual behavior at onset NOT_TRANSLATED -en nl HP:0000138 rdfs:label Ovarian cyst Ovariumcyste CANDIDATE -en nl HP:0000138 IAO:0000115 The presence of one or more cysts of the ovary The presence of one or more cysts of the ovary NOT_TRANSLATED -en nl HP:0032906 rdfs:label Focal head nodding automatism seizure Focal head nodding automatism seizure NOT_TRANSLATED -en nl HP:0032906 IAO:0000115 A type of focal automatism seizure characterized by involuntary head nodding at onset A type of focal automatism seizure characterized by involuntary head nodding at onset NOT_TRANSLATED -en nl HP:0000139 rdfs:label Uterine prolapse Baarmoederverzakking CANDIDATE -en nl HP:0000139 IAO:0000115 The presence of prolapse of the uterus The presence of prolapse of the uterus NOT_TRANSLATED -en nl HP:0032907 rdfs:label Focal undressing automatism seizure Focal undressing automatism seizure NOT_TRANSLATED -en nl HP:0032907 IAO:0000115 A type of focal automatism seizure characterized by involuntary undressing at onset A type of focal automatism seizure characterized by involuntary undressing at onset NOT_TRANSLATED -en nl HP:0000140 rdfs:label Abnormality of the menstrual cycle Afwijking van de menstruele cyclus CANDIDATE -en nl HP:0000140 IAO:0000115 An abnormality of the ovulation cycle An abnormality of the ovulation cycle NOT_TRANSLATED -en nl HP:0032908 rdfs:label Focal aware undressing automatism seizure Focal aware undressing automatism seizure NOT_TRANSLATED -en nl HP:0032908 IAO:0000115 A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000141 rdfs:label Amenorrhea Amenorroe CANDIDATE -en nl HP:0000141 IAO:0000115 Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months NOT_TRANSLATED -en nl HP:0032909 rdfs:label Focal impaired awareness automatism seizure Focal impaired awareness automatism seizure NOT_TRANSLATED -en nl HP:0032909 IAO:0000115 A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0000142 rdfs:label Abnormal vagina morphology Afwijking van de vagina CANDIDATE -en nl HP:0000142 IAO:0000115 Any structural abnormality of the vagina Een afwijking van de vagina CANDIDATE -en nl HP:0032910 rdfs:label Focal aware automatism seizure Focal aware automatism seizure NOT_TRANSLATED -en nl HP:0032910 IAO:0000115 A type of focal automatism seizure during which awareness is fully retained throughout A type of focal automatism seizure during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000143 rdfs:label Rectovaginal fistula Rectovaginale fistel CANDIDATE -en nl HP:0000143 IAO:0000115 The presence of a fistula between the vagina and the rectum The presence of a fistula between the vagina and the rectum NOT_TRANSLATED -en nl HP:0032911 rdfs:label Focal aware orofacial automatism seizure Focal aware orofacial automatism seizure NOT_TRANSLATED -en nl HP:0032911 IAO:0000115 A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000144 rdfs:label Decreased fertility Verminderde vruchtbaarheid CANDIDATE -en nl HP:0032912 rdfs:label Focal aware manual automatism seizure Focal aware manual automatism seizure NOT_TRANSLATED -en nl HP:0032912 IAO:0000115 A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000145 rdfs:label Transverse vaginal septum Transversale vaginale septum CANDIDATE -en nl HP:0032913 rdfs:label Focal aware pedal automatism seizure Focal aware pedal automatism seizure NOT_TRANSLATED -en nl HP:0032913 IAO:0000115 A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs NOT_TRANSLATED -en nl HP:0032914 rdfs:label Focal aware perseverative automatism seizure Focal aware perseverative automatism seizure NOT_TRANSLATED -en nl HP:0032914 IAO:0000115 A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000147 rdfs:label Polycystic ovaries Polycysteuze ovaria CANDIDATE -en nl HP:0032915 rdfs:label Focal aware vocal automatism seizure Focal aware vocal automatism seizure NOT_TRANSLATED -en nl HP:0032915 IAO:0000115 A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000148 rdfs:label Vaginal atresia Vaginale atresie CANDIDATE -en nl HP:0000148 IAO:0000115 Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion NOT_TRANSLATED -en nl HP:0032916 rdfs:label Focal aware verbal automatism seizure Focal aware verbal automatism seizure NOT_TRANSLATED -en nl HP:0032916 IAO:0000115 A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000149 rdfs:label Ovarian gonadoblastoma Ovariële gonadoblastoma CANDIDATE -en nl HP:0000149 IAO:0000115 The presence of a gonadoblastoma of the ovary The presence of a gonadoblastoma of the ovary NOT_TRANSLATED -en nl HP:0032917 rdfs:label Focal aware sexual automatism seizure Focal aware sexual automatism seizure NOT_TRANSLATED -en nl HP:0032917 IAO:0000115 A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000150 rdfs:label Gonadoblastoma Gonadoblastoma CANDIDATE -en nl HP:0000150 IAO:0000115 The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements NOT_TRANSLATED -en nl HP:0032918 rdfs:label Focal impaired awareness orofacial automatism seizure Focal impaired awareness orofacial automatism seizure NOT_TRANSLATED -en nl HP:0032918 IAO:0000115 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset NOT_TRANSLATED -en nl HP:0000151 rdfs:label Aplasia of the uterus Aplasie van de uterus CANDIDATE -en nl HP:0000151 IAO:0000115 Aplasia of the uterus Aplasie van de uterus CANDIDATE -en nl HP:0032919 rdfs:label Focal aware head nodding automatism seizure Focal aware head nodding automatism seizure NOT_TRANSLATED -en nl HP:0032919 IAO:0000115 A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0000152 rdfs:label Abnormality of head or neck Afwijking van het hoofd of nek CANDIDATE -en nl HP:0000152 IAO:0000115 An abnormality of head and neck Een afwijking van hoofd en nek CANDIDATE -en nl HP:0032920 rdfs:label Focal impaired awareness manual automatism seizure Focal impaired awareness manual automatism seizure NOT_TRANSLATED -en nl HP:0032920 IAO:0000115 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset NOT_TRANSLATED -en nl HP:0000153 rdfs:label Abnormality of the mouth Afwijking van de mond CANDIDATE -en nl HP:0000153 IAO:0000115 An abnormality of the mouth An abnormality of the mouth NOT_TRANSLATED -en nl HP:0032921 rdfs:label Focal impaired awareness pedal automatism seizure Focal impaired awareness pedal automatism seizure NOT_TRANSLATED -en nl HP:0032921 IAO:0000115 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs NOT_TRANSLATED -en nl HP:0000154 rdfs:label Wide mouth Brede mond CANDIDATE -en nl HP:0000154 IAO:0000115 Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective) Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective) NOT_TRANSLATED -en nl HP:0032922 rdfs:label Focal impaired awareness perseverative automatism seizure Focal impaired awareness perseverative automatism seizure NOT_TRANSLATED -en nl HP:0032922 IAO:0000115 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset NOT_TRANSLATED -en nl HP:0000155 rdfs:label Oral ulcer Mondulcus CANDIDATE -en nl HP:0000155 IAO:0000115 Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue NOT_TRANSLATED -en nl HP:0032923 rdfs:label Focal impaired awareness vocal automatism seizure Focal impaired awareness vocal automatism seizure NOT_TRANSLATED -en nl HP:0032923 IAO:0000115 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset NOT_TRANSLATED -en nl HP:0032924 rdfs:label Focal impaired awareness verbal automatism seizure Focal impaired awareness verbal automatism seizure NOT_TRANSLATED -en nl HP:0032924 IAO:0000115 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset NOT_TRANSLATED -en nl HP:0000157 rdfs:label Abnormality of the tongue Afwijking van de tong CANDIDATE -en nl HP:0000157 IAO:0000115 Any abnormality of the tongue Een afwijking van de tong CANDIDATE -en nl HP:0032925 rdfs:label Focal impaired awareness sexual automatism seizure Focal impaired awareness sexual automatism seizure NOT_TRANSLATED -en nl HP:0032925 IAO:0000115 A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset NOT_TRANSLATED -en nl HP:0000158 rdfs:label Macroglossia Macroglossie CANDIDATE -en nl HP:0000158 IAO:0000115 Increased length and width of the tongue Increased length and width of the tongue NOT_TRANSLATED -en nl HP:0032926 rdfs:label Focal impaired awareness head nodding automatism seizure Focal impaired awareness head nodding automatism seizure NOT_TRANSLATED -en nl HP:0032926 IAO:0000115 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset NOT_TRANSLATED -en nl HP:0000159 rdfs:label Abnormal lip morphology Afwijking van de lip CANDIDATE -en nl HP:0000159 IAO:0000115 An abnormality of the lip Een afwijking van de lip CANDIDATE -en nl HP:0032927 rdfs:label Focal impaired awareness undressing automatism seizure Focal impaired awareness undressing automatism seizure NOT_TRANSLATED -en nl HP:0032927 IAO:0000115 A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset NOT_TRANSLATED -en nl HP:0000160 rdfs:label Narrow mouth Smalle mond CANDIDATE -en nl HP:0000160 IAO:0000115 Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective) Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective) NOT_TRANSLATED -en nl HP:0032928 rdfs:label Elevated CSF neurofilament light chain concentration Elevated CSF neurofilament light chain concentration NOT_TRANSLATED -en nl HP:0032928 IAO:0000115 Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases NOT_TRANSLATED -en nl HP:0000161 rdfs:label Median cleft lip Mediaan gespleten lip CANDIDATE -en nl HP:0000161 IAO:0000115 A type of cleft lip presenting as a midline (median) gap in the upper lip A type of cleft lip presenting as a midline (median) gap in the upper lip NOT_TRANSLATED -en nl HP:0032929 rdfs:label Abnormal chondrocyte morphology Abnormal chondrocyte morphology NOT_TRANSLATED -en nl HP:0032929 IAO:0000115 Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage NOT_TRANSLATED -en nl HP:0000162 rdfs:label Glossoptosis Glossoptosis CANDIDATE -en nl HP:0000162 IAO:0000115 Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly NOT_TRANSLATED -en nl HP:0032930 rdfs:label Lacunar halos around chondrocytes Lacunar halos around chondrocytes NOT_TRANSLATED -en nl HP:0032930 IAO:0000115 Concentric rings around the chondrocytes Concentric rings around the chondrocytes NOT_TRANSLATED -en nl HP:0000163 rdfs:label Abnormal oral cavity morphology Afwijking van de mondholte CANDIDATE -en nl HP:0000163 IAO:0000115 Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth NOT_TRANSLATED -en nl HP:0000164 rdfs:label Abnormality of the dentition Afwijking van de tanden CANDIDATE -en nl HP:0000164 IAO:0000115 Any abnormality of the teeth Any abnormality of the teeth NOT_TRANSLATED -en nl HP:0032932 rdfs:label Increased circulating pancreatic triacylglycerol lipase level Increased circulating pancreatic triacylglycerol lipase level NOT_TRANSLATED -en nl HP:0032932 IAO:0000115 An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma) An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma) NOT_TRANSLATED -en nl HP:0032933 rdfs:label Airway hyperresponsiveness Airway hyperresponsiveness NOT_TRANSLATED -en nl HP:0032933 IAO:0000115 An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist NOT_TRANSLATED -en nl HP:0000166 rdfs:label Severe periodontitis Ernstige pariodontitis CANDIDATE -en nl HP:0000166 IAO:0000115 A severe form of periodontitis A severe form of periodontitis NOT_TRANSLATED -en nl HP:0032934 rdfs:label Spontaneous cerebrospinal fluid leak Spontaneous cerebrospinal fluid leak NOT_TRANSLATED -en nl HP:0032934 IAO:0000115 A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak) A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak) NOT_TRANSLATED -en nl HP:0032935 rdfs:label Posterior crocodile shagreen of the cornea Posterior crocodile shagreen of the cornea NOT_TRANSLATED -en nl HP:0032935 IAO:0000115 Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin NOT_TRANSLATED -en nl HP:0000168 rdfs:label Abnormality of the gingiva Afwijking van het tandvlees CANDIDATE -en nl HP:0000168 IAO:0000115 Any abnormality of the gingiva (also known as gums) Elke afwijking van het gingiva (ook bekend als tandvlees) CANDIDATE -en nl HP:0032936 rdfs:label Intrusion symptom Intrusion symptom NOT_TRANSLATED -en nl HP:0032936 IAO:0000115 Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context NOT_TRANSLATED -en nl HP:0000169 rdfs:label Gingival fibromatosis Gingivale fibromatose CANDIDATE -en nl HP:0000169 IAO:0000115 The presence of fibrosis of the gingiva The presence of fibrosis of the gingiva NOT_TRANSLATED -en nl HP:0032937 rdfs:label Recurrent, involuntary and intrusive distressing memories Recurrent, involuntary and intrusive distressing memories NOT_TRANSLATED -en nl HP:0032937 IAO:0000115 After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory NOT_TRANSLATED -en nl HP:0032938 rdfs:label Recurrent trauma-related distressing dreams Recurrent trauma-related distressing dreams NOT_TRANSLATED -en nl HP:0032938 IAO:0000115 Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events NOT_TRANSLATED -en nl HP:0000171 rdfs:label Microglossia Microglossie CANDIDATE -en nl HP:0000171 IAO:0000115 Decreased length and width of the tongue Verminderde lengte en breedte van de tong CANDIDATE -en nl HP:0032939 rdfs:label Physiological reactivity to cues Physiological reactivity to cues NOT_TRANSLATED -en nl HP:0032939 IAO:0000115 Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s) Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s) NOT_TRANSLATED -en nl HP:0000172 rdfs:label Abnormal uvula morphology Afwijking van de uvula CANDIDATE -en nl HP:0000172 IAO:0000115 Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate NOT_TRANSLATED -en nl HP:0032940 rdfs:label Dissociative reaction Dissociative reaction NOT_TRANSLATED -en nl HP:0032940 IAO:0000115 A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration NOT_TRANSLATED -en nl HP:0032941 rdfs:label Intense psychological distress to cues Intense psychological distress to cues NOT_TRANSLATED -en nl HP:0032941 IAO:0000115 Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events NOT_TRANSLATED -en nl HP:0000174 rdfs:label Abnormal palate morphology Afwijking van het gehemelte CANDIDATE -en nl HP:0000174 IAO:0000115 Any abnormality of the palate, i.e., of roof of the mouth Any abnormality of the palate, i.e., of roof of the mouth NOT_TRANSLATED -en nl HP:0032942 rdfs:label Avoidance of stimuli associated with traumatic event Avoidance of stimuli associated with traumatic event NOT_TRANSLATED -en nl HP:0032942 IAO:0000115 Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s) Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s) NOT_TRANSLATED -en nl HP:0000175 rdfs:label Cleft palate Gespleten gehemelte CANDIDATE -en nl HP:0000175 IAO:0000115 Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate) Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate) NOT_TRANSLATED -en nl HP:0032943 rdfs:label Abnormal urine pH Abnormal urine pH NOT_TRANSLATED -en nl HP:0032943 IAO:0000115 A deviation of urine pH from the normal range of 4.5 to 7.8 A deviation of urine pH from the normal range of 4.5 to 7.8 NOT_TRANSLATED -en nl HP:0000176 rdfs:label Submucous cleft hard palate Submukeus gespleten hard gehemelte CANDIDATE -en nl HP:0000176 IAO:0000115 Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate NOT_TRANSLATED -en nl HP:0032944 rdfs:label Alkaline urine Alkaline urine NOT_TRANSLATED -en nl HP:0032944 IAO:0000115 Urine pH of 8 or higher Urine pH of 8 or higher NOT_TRANSLATED -en nl HP:0000177 rdfs:label Abnormal upper lip morphology Afwijking van bovenlip CANDIDATE -en nl HP:0000177 IAO:0000115 An abnormality of the upper lip An abnormality of the upper lip NOT_TRANSLATED -en nl HP:0032945 rdfs:label Renal interstitial inflammation Renal interstitial inflammation NOT_TRANSLATED -en nl HP:0032945 IAO:0000115 Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells NOT_TRANSLATED -en nl HP:0000178 rdfs:label Abnormal lower lip morphology Afwijking van de onderlip CANDIDATE -en nl HP:0000178 IAO:0000115 An abnormality of the lower lip Een afwijking van de onderlip CANDIDATE -en nl HP:0032946 rdfs:label Renal cortical interstitial inflammation Renal cortical interstitial inflammation NOT_TRANSLATED -en nl HP:0032946 IAO:0000115 Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells NOT_TRANSLATED -en nl HP:0000179 rdfs:label Thick lower lip vermilion Dik onderliprood CANDIDATE -en nl HP:0000179 IAO:0000115 Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective) Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective) NOT_TRANSLATED -en nl HP:0032947 rdfs:label Renal medullary interstitial inflammation Renal medullary interstitial inflammation NOT_TRANSLATED -en nl HP:0032947 IAO:0000115 Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells NOT_TRANSLATED -en nl HP:0000180 rdfs:label Lobulated tongue Gelobde tong CANDIDATE -en nl HP:0000180 IAO:0000115 Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour NOT_TRANSLATED -en nl HP:0032948 rdfs:label Renal interstitial fibrosis Renal interstitial fibrosis NOT_TRANSLATED -en nl HP:0032948 IAO:0000115 The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic NOT_TRANSLATED -en nl HP:0032949 rdfs:label Renal interstitial calcium phosphate deposits Renal interstitial calcium phosphate deposits NOT_TRANSLATED -en nl HP:0032949 IAO:0000115 The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits NOT_TRANSLATED -en nl HP:0000182 rdfs:label Movement abnormality of the tongue Afwijking van de beweging van de tong CANDIDATE -en nl HP:0032950 rdfs:label Abnormal renal tubular lumen morphology Abnormal renal tubular lumen morphology NOT_TRANSLATED -en nl HP:0032950 IAO:0000115 Abnormal structure or form of the lumen (opening) of kidney tubules Abnormal structure or form of the lumen (opening) of kidney tubules NOT_TRANSLATED -en nl HP:0000183 rdfs:label Difficulty in tongue movements Moeite met bewegingen van de tong CANDIDATE -en nl HP:0032951 rdfs:label Renal tubular viral cytopathic changes Renal tubular viral cytopathic changes NOT_TRANSLATED -en nl HP:0032951 IAO:0000115 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells NOT_TRANSLATED -en nl HP:0032952 rdfs:label Usual-type tubular atrophy Usual-type tubular atrophy NOT_TRANSLATED -en nl HP:0032952 IAO:0000115 A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis NOT_TRANSLATED -en nl HP:0000185 rdfs:label Cleft soft palate Gespleten zachte verhemelte CANDIDATE -en nl HP:0000185 IAO:0000115 Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency NOT_TRANSLATED -en nl HP:0032953 rdfs:label Renal tubular cytomegalovirus inclusions Renal tubular cytomegalovirus inclusions NOT_TRANSLATED -en nl HP:0032953 IAO:0000115 Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages NOT_TRANSLATED -en nl HP:0032954 rdfs:label Renal tubular adenovirus inclusions Renal tubular adenovirus inclusions NOT_TRANSLATED -en nl HP:0032954 IAO:0000115 Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage NOT_TRANSLATED -en nl HP:0000187 rdfs:label Broad alveolar ridges Brede alveolaire ruggen CANDIDATE -en nl HP:0032955 rdfs:label Renal tubular polyoma virus inclusions Renal tubular polyoma virus inclusions NOT_TRANSLATED -en nl HP:0032955 IAO:0000115 Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection NOT_TRANSLATED -en nl HP:0000188 rdfs:label Short upper lip Korte bovenlip CANDIDATE -en nl HP:0000188 IAO:0000115 Decreased width of the upper lip Decreased width of the upper lip NOT_TRANSLATED -en nl HP:0032956 rdfs:label Renal tubular herpes simplex virus inclusions Renal tubular herpes simplex virus inclusions NOT_TRANSLATED -en nl HP:0032956 IAO:0000115 Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis NOT_TRANSLATED -en nl HP:0000189 rdfs:label Narrow palate Smal gehemelte CANDIDATE -en nl HP:0000189 IAO:0000115 Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective) Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective) NOT_TRANSLATED -en nl HP:0032957 rdfs:label Dysmorphic hematuria Dysmorphic hematuria NOT_TRANSLATED -en nl HP:0032957 IAO:0000115 The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria NOT_TRANSLATED -en nl HP:0000190 rdfs:label Abnormal oral frenulum morphology Afwijking van orale frenula CANDIDATE -en nl HP:0000190 IAO:0000115 An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity NOT_TRANSLATED -en nl HP:0032958 rdfs:label Urinary oval fat bodies Urinary oval fat bodies NOT_TRANSLATED -en nl HP:0032958 IAO:0000115 The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets NOT_TRANSLATED -en nl HP:0000191 rdfs:label Accessory oral frenulum Overtollig oraal frenulum CANDIDATE -en nl HP:0000191 IAO:0000115 Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip NOT_TRANSLATED -en nl HP:0032959 rdfs:label Intratubular calcium oxalate casts Intratubular calcium oxalate casts NOT_TRANSLATED -en nl HP:0032959 IAO:0000115 Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney NOT_TRANSLATED -en nl HP:0032960 rdfs:label Intratubular calcium phosphate casts Intratubular calcium phosphate casts NOT_TRANSLATED -en nl HP:0032960 IAO:0000115 Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney NOT_TRANSLATED -en nl HP:0000193 rdfs:label Bifid uvula Gespleten huig CANDIDATE -en nl HP:0000193 IAO:0000115 Uvula separated into two parts most easily seen at the tip Uvula separated into two parts most easily seen at the tip NOT_TRANSLATED -en nl HP:0032961 rdfs:label Magnesium ammonium phosphate crystalluria Magnesium ammonium phosphate crystalluria NOT_TRANSLATED -en nl HP:0032961 IAO:0000115 Magnesium ammonium phosphate crystals in the urine Magnesium ammonium phosphate crystals in the urine NOT_TRANSLATED -en nl HP:0000194 rdfs:label Open mouth Open mond CANDIDATE -en nl HP:0000194 IAO:0000115 A facial appearance characterized by a permanently or nearly permanently opened mouth A facial appearance characterized by a permanently or nearly permanently opened mouth NOT_TRANSLATED -en nl HP:0032962 rdfs:label Tubular microcystic change Tubular microcystic change NOT_TRANSLATED -en nl HP:0032962 IAO:0000115 Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border NOT_TRANSLATED -en nl HP:0032963 rdfs:label Complex renal cyst Complex renal cyst NOT_TRANSLATED -en nl HP:0032963 IAO:0000115 A renal cyst characterized by epithelium lined space (squamous/columnar) with septations A renal cyst characterized by epithelium lined space (squamous/columnar) with septations NOT_TRANSLATED -en nl HP:0000196 rdfs:label Lower lip pit Onderlipfistel CANDIDATE -en nl HP:0000196 IAO:0000115 Depression located on the vermilion of the lower lip, usually paramedian Depression located on the vermilion of the lower lip, usually paramedian NOT_TRANSLATED -en nl HP:0032964 rdfs:label Uric acid crystalluria Uric acid crystalluria NOT_TRANSLATED -en nl HP:0032964 IAO:0000115 The presence of uric acid crystals in the urine The presence of uric acid crystals in the urine NOT_TRANSLATED -en nl HP:0000197 rdfs:label Abnormal parotid gland morphology Afwijking van parotide klier CANDIDATE -en nl HP:0000197 IAO:0000115 Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear NOT_TRANSLATED -en nl HP:0032965 rdfs:label Interstitial emphysema Interstitial emphysema NOT_TRANSLATED -en nl HP:0032965 IAO:0000115 Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts NOT_TRANSLATED -en nl HP:0000198 rdfs:label Absence of Stensen duct Afwezigheid van ductus parotideus CANDIDATE -en nl HP:0032966 rdfs:label Centrilobular emphysema Centrilobular emphysema NOT_TRANSLATED -en nl HP:0032966 IAO:0000115 A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones NOT_TRANSLATED -en nl HP:0000199 rdfs:label Tongue nodules Tong noduli CANDIDATE -en nl HP:0032967 rdfs:label Panacinar emphysema Panacinar emphysema NOT_TRANSLATED -en nl HP:0032967 IAO:0000115 Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis NOT_TRANSLATED -en nl HP:0000200 rdfs:label Short lingual frenulum Korte tongriem CANDIDATE -en nl HP:0000200 IAO:0000115 The presence of an abnormally short lingual frenulum The presence of an abnormally short lingual frenulum NOT_TRANSLATED -en nl HP:0032968 rdfs:label Expiratory air trapping Expiratory air trapping NOT_TRANSLATED -en nl HP:0032968 IAO:0000115 Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration NOT_TRANSLATED -en nl HP:0000201 rdfs:label Pierre-Robin sequence Pierre Robin sequentie CANDIDATE -en nl HP:0000201 IAO:0000115 Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate NOT_TRANSLATED -en nl HP:0032969 rdfs:label Traction bronchiectasis Traction bronchiectasis NOT_TRANSLATED -en nl HP:0032969 IAO:0000115 Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts NOT_TRANSLATED -en nl HP:0000202 rdfs:label Oral cleft Schisis CANDIDATE -en nl HP:0000202 IAO:0000115 The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately NOT_TRANSLATED -en nl HP:0032970 rdfs:label Traction bronchiolectasis Traction bronchiolectasis NOT_TRANSLATED -en nl HP:0032971 rdfs:label Computed tomographic halo sign Computed tomographic halo sign NOT_TRANSLATED -en nl HP:0032971 IAO:0000115 CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm NOT_TRANSLATED -en nl HP:0000204 rdfs:label Cleft upper lip Gespleten bovenlip CANDIDATE -en nl HP:0000204 IAO:0000115 A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development NOT_TRANSLATED -en nl HP:0032972 rdfs:label Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT NOT_TRANSLATED -en nl HP:0032972 IAO:0000115 A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases NOT_TRANSLATED -en nl HP:0000205 rdfs:label Pursed lips Getuite lippen CANDIDATE -en nl HP:0000205 IAO:0000115 An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance NOT_TRANSLATED -en nl HP:0032973 rdfs:label Abnormal bronchoalveolar lavage fluid morphology Abnormal bronchoalveolar lavage fluid morphology NOT_TRANSLATED -en nl HP:0032973 IAO:0000115 Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions NOT_TRANSLATED -en nl HP:0000206 rdfs:label Glossitis Glossitis CANDIDATE -en nl HP:0000206 IAO:0000115 Inflammation of the tongue Inflammation of the tongue NOT_TRANSLATED -en nl HP:0032974 rdfs:label Abnormal cellular composition of bronchoalveolar fluid Abnormal cellular composition of bronchoalveolar fluid NOT_TRANSLATED -en nl HP:0032974 IAO:0000115 Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5% Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5% NOT_TRANSLATED -en nl HP:0000207 rdfs:label Triangular mouth Driehoekige mond CANDIDATE -en nl HP:0000207 IAO:0000115 The presence of a triangular form of the mouth The presence of a triangular form of the mouth NOT_TRANSLATED -en nl HP:0032975 rdfs:label Abnormal bronchoalveolar fluid protein level Abnormal bronchoalveolar fluid protein level NOT_TRANSLATED -en nl HP:0032975 IAO:0000115 Any deviation from the normal concentration of protein in the bronchoalveolar fluid Any deviation from the normal concentration of protein in the bronchoalveolar fluid NOT_TRANSLATED -en nl HP:0032976 rdfs:label Elevated bronchoalveolar lavage fluid lymphocyte proportion Elevated bronchoalveolar lavage fluid lymphocyte proportion NOT_TRANSLATED -en nl HP:0032976 IAO:0000115 Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases NOT_TRANSLATED -en nl HP:0032977 rdfs:label Elevated bronchoalveolar lavage fluid neutrophil proportion Elevated bronchoalveolar lavage fluid neutrophil proportion NOT_TRANSLATED -en nl HP:0032977 IAO:0000115 Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases NOT_TRANSLATED -en nl HP:0032978 rdfs:label Lipid-laden macrophages in bronchoalveolar fluid Lipid-laden macrophages in bronchoalveolar fluid NOT_TRANSLATED -en nl HP:0032978 IAO:0000115 Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions NOT_TRANSLATED -en nl HP:0000211 rdfs:label Trismus Trismus CANDIDATE -en nl HP:0000211 IAO:0000115 Limitation in the ability to open the mouth Limitation in the ability to open the mouth NOT_TRANSLATED -en nl HP:0032979 rdfs:label Hemosiderin-laden macrophages in bronchoalveolar fluid Hemosiderin-laden macrophages in bronchoalveolar fluid NOT_TRANSLATED -en nl HP:0032979 IAO:0000115 Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP) Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP) NOT_TRANSLATED -en nl HP:0000212 rdfs:label Gingival overgrowth Overtollig tandvlees CANDIDATE -en nl HP:0000212 IAO:0000115 Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown NOT_TRANSLATED -en nl HP:0032980 rdfs:label Absent bronchoalveolar surfactant-protein C Absent bronchoalveolar surfactant-protein C NOT_TRANSLATED -en nl HP:0032980 IAO:0000115 Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region NOT_TRANSLATED -en nl HP:0032981 rdfs:label Absent bronchoalveolar dimeric surfactant-protein B Absent bronchoalveolar dimeric surfactant-protein B NOT_TRANSLATED -en nl HP:0032981 IAO:0000115 Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid NOT_TRANSLATED -en nl HP:0000214 rdfs:label Lip telangiectasia Lip teleangiëctasie CANDIDATE -en nl HP:0000214 IAO:0000115 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips NOT_TRANSLATED -en nl HP:0000215 rdfs:label Thick upper lip vermilion Dik bovenliprood CANDIDATE -en nl HP:0000215 IAO:0000115 Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective) Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective) NOT_TRANSLATED -en nl HP:0032983 rdfs:label Atoll sign Atoll sign NOT_TRANSLATED -en nl HP:0032983 IAO:0000115 CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis NOT_TRANSLATED -en nl HP:0000216 rdfs:label Broad secondary alveolar ridge Brede secundaire alveolaire rug CANDIDATE -en nl HP:0032984 rdfs:label Abnormal alveolar macrophage morphology Abnormal alveolar macrophage morphology NOT_TRANSLATED -en nl HP:0032984 IAO:0000115 Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles NOT_TRANSLATED -en nl HP:0000217 rdfs:label Xerostomia Xerostomie CANDIDATE -en nl HP:0000217 IAO:0000115 Dryness of the mouth due to salivary gland dysfunction Dryness of the mouth due to salivary gland dysfunction NOT_TRANSLATED -en nl HP:0032985 rdfs:label Dust particle inclusion in alveolar macrophages Dust particle inclusion in alveolar macrophages NOT_TRANSLATED -en nl HP:0032985 IAO:0000115 Accumulation of inhaled, nondigestable particles in macrophages Accumulation of inhaled, nondigestable particles in macrophages NOT_TRANSLATED -en nl HP:0000218 rdfs:label High palate Hoog gehemelte CANDIDATE -en nl HP:0000218 IAO:0000115 Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective) Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective) NOT_TRANSLATED -en nl HP:0032986 rdfs:label Smoker-inclusions in alveolar macrophages Smoker-inclusions in alveolar macrophages NOT_TRANSLATED -en nl HP:0032986 IAO:0000115 In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits NOT_TRANSLATED -en nl HP:0000219 rdfs:label Thin upper lip vermilion Dun bovenliplood CANDIDATE -en nl HP:0000219 IAO:0000115 Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective) Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective) NOT_TRANSLATED -en nl HP:0032987 rdfs:label Elevated bronchoalveolar lavage fluid eosinophil proportion Elevated bronchoalveolar lavage fluid eosinophil proportion NOT_TRANSLATED -en nl HP:0032987 IAO:0000115 Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced NOT_TRANSLATED -en nl HP:0000220 rdfs:label Velopharyngeal insufficiency Velofaryngeale insufficiëntie CANDIDATE -en nl HP:0000220 IAO:0000115 Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech NOT_TRANSLATED -en nl HP:0032988 rdfs:label Persistent head lag Persistent head lag NOT_TRANSLATED -en nl HP:0032988 IAO:0000115 The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes NOT_TRANSLATED -en nl HP:0000221 rdfs:label Furrowed tongue Gegroefde tong CANDIDATE -en nl HP:0000221 IAO:0000115 Accentuation of the grooves on the dorsal surface of the tongue Accentuation of the grooves on the dorsal surface of the tongue NOT_TRANSLATED -en nl HP:0032989 rdfs:label Delayed ability to roll over Delayed ability to roll over NOT_TRANSLATED -en nl HP:0032989 IAO:0000115 Delayed ahcievement of the ability to roll front to back and back to front Delayed ahcievement of the ability to roll front to back and back to front NOT_TRANSLATED -en nl HP:0000222 rdfs:label Gingival hyperkeratosis Gingivale hyperkeratose CANDIDATE -en nl HP:0000222 IAO:0000115 Hyperkeratosis of the gingiva Hyperkeratosis of the gingiva NOT_TRANSLATED -en nl HP:0032990 rdfs:label Localized pulmonary hemorrhage Localized pulmonary hemorrhage NOT_TRANSLATED -en nl HP:0032990 IAO:0000115 Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder NOT_TRANSLATED -en nl HP:0000223 rdfs:label Abnormality of taste sensation Afwijking van smaaksensatie CANDIDATE -en nl HP:0032991 rdfs:label Abnormal pulmonary fissure morphology Abnormal pulmonary fissure morphology NOT_TRANSLATED -en nl HP:0032991 IAO:0000115 An abnormal form or number of the pulmonary fissures An abnormal form or number of the pulmonary fissures NOT_TRANSLATED -en nl HP:0000224 rdfs:label Hypogeusia Verminderde smaaksensatie CANDIDATE -en nl HP:0000224 IAO:0000115 A decreased ability to perceive flavor A decreased ability to perceive flavor NOT_TRANSLATED -en nl HP:0032992 rdfs:label Abnormal pulmonary fissure architecture Abnormal pulmonary fissure architecture NOT_TRANSLATED -en nl HP:0032992 IAO:0000115 An abnormal form or location of a pulmonary fissure An abnormal form or location of a pulmonary fissure NOT_TRANSLATED -en nl HP:0000225 rdfs:label Gingival bleeding Tandvleesbloeding CANDIDATE -en nl HP:0000225 IAO:0000115 Hemorrhage affecting the gingiva Hemorrhage affecting the gingiva NOT_TRANSLATED -en nl HP:0032993 rdfs:label Abnormal pulmonary fissure count Abnormal pulmonary fissure count NOT_TRANSLATED -en nl HP:0032993 IAO:0000115 A deviation from the normal number of pulmonary fissures A deviation from the normal number of pulmonary fissures NOT_TRANSLATED -en nl HP:0032994 rdfs:label Supernumerary pulmonary fissure Supernumerary pulmonary fissure NOT_TRANSLATED -en nl HP:0032994 IAO:0000115 Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes NOT_TRANSLATED -en nl HP:0000227 rdfs:label Tongue telangiectasia Tong Teleangiëctasie CANDIDATE -en nl HP:0000227 IAO:0000115 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue NOT_TRANSLATED -en nl HP:0032995 rdfs:label Decreased pulmonary fissure count Decreased pulmonary fissure count NOT_TRANSLATED -en nl HP:0032995 IAO:0000115 Lack of one or more of the normal pulmonary fissures Lack of one or more of the normal pulmonary fissures NOT_TRANSLATED -en nl HP:0000228 rdfs:label Oral cavity telangiectasia Mondholte Teleangiëctasie CANDIDATE -en nl HP:0000228 IAO:0000115 Presence of telangiectases in the oral cavity Presence of telangiectases in the oral cavity NOT_TRANSLATED -en nl HP:0032996 rdfs:label Abnormal cystatin C level Abnormal cystatin C level NOT_TRANSLATED -en nl HP:0032996 IAO:0000115 Any deviation from the normal concentration of cystatin C in serum or plasma Any deviation from the normal concentration of cystatin C in serum or plasma NOT_TRANSLATED -en nl HP:0032997 rdfs:label Decreased cystatin C level Decreased cystatin C level NOT_TRANSLATED -en nl HP:0032997 IAO:0000115 A decreased concentration of cystatin C in the blood circulation A decreased concentration of cystatin C in the blood circulation NOT_TRANSLATED -en nl HP:0000230 rdfs:label Gingivitis Gingivitis CANDIDATE -en nl HP:0000230 IAO:0000115 Inflammation of the gingiva Inflammation of the gingiva NOT_TRANSLATED -en nl HP:0032998 rdfs:label Increased cystatin C level Increased cystatin C level NOT_TRANSLATED -en nl HP:0032998 IAO:0000115 A elevated concentration of cystatin C in the blood circulation A elevated concentration of cystatin C in the blood circulation NOT_TRANSLATED -en nl HP:0032999 rdfs:label Increased fecal porphyrin Increased fecal porphyrin NOT_TRANSLATED -en nl HP:0032999 IAO:0000115 Abnormally high concentration of fecal porphyrins in feces Abnormally high concentration of fecal porphyrins in feces NOT_TRANSLATED -en nl HP:0000232 rdfs:label Everted lower lip vermilion Naar buiten gekeerd onderliprood CANDIDATE -en nl HP:0000232 IAO:0000115 An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view NOT_TRANSLATED -en nl HP:0033000 rdfs:label Subglottic laryngitis Subglottic laryngitis NOT_TRANSLATED -en nl HP:0033000 IAO:0000115 Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure NOT_TRANSLATED -en nl HP:0000233 rdfs:label Thin vermilion border Dunne liprand CANDIDATE -en nl HP:0000233 IAO:0000115 Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips) Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips) NOT_TRANSLATED -en nl HP:0033001 rdfs:label Laryngeal papilloma Laryngeal papilloma NOT_TRANSLATED -en nl HP:0033001 IAO:0000115 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx NOT_TRANSLATED -en nl HP:0000234 rdfs:label Abnormality of the head Afwijking van het hoofd CANDIDATE -en nl HP:0000234 IAO:0000115 An abnormality of the head An abnormality of the head NOT_TRANSLATED -en nl HP:0033002 rdfs:label Bronchial papilloma Bronchial papilloma NOT_TRANSLATED -en nl HP:0033002 IAO:0000115 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus NOT_TRANSLATED -en nl HP:0000235 rdfs:label Abnormality of the fontanelles or cranial sutures Afwijking van de fontanellen of de craniale hechtingen CANDIDATE -en nl HP:0000235 IAO:0000115 Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments) Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments) NOT_TRANSLATED -en nl HP:0033003 rdfs:label Tracheal papilloma Tracheal papilloma NOT_TRANSLATED -en nl HP:0033003 IAO:0000115 A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea NOT_TRANSLATED -en nl HP:0000236 rdfs:label Abnormality of the anterior fontanelle Afwijking van de voorste fontanel CANDIDATE -en nl HP:0000236 IAO:0000115 An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures NOT_TRANSLATED -en nl HP:0033004 rdfs:label Palmar warts Palmar warts NOT_TRANSLATED -en nl HP:0033004 IAO:0000115 Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) NOT_TRANSLATED -en nl HP:0000237 rdfs:label Small anterior fontanelle Kleine voorste fontanel CANDIDATE -en nl HP:0000237 IAO:0000115 Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0033005 rdfs:label Plantar warts Plantar warts NOT_TRANSLATED -en nl HP:0033005 IAO:0000115 Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) NOT_TRANSLATED -en nl HP:0000238 rdfs:label Hydrocephalus Hydrocephalus CANDIDATE -en nl HP:0000238 IAO:0000115 Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation NOT_TRANSLATED -en nl HP:0033006 rdfs:label Diffuse alveolar damage Diffuse alveolar damage NOT_TRANSLATED -en nl HP:0033006 IAO:0000115 Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation NOT_TRANSLATED -en nl HP:0000239 rdfs:label Large fontanelles Grote fontanellen CANDIDATE -en nl HP:0000239 IAO:0000115 In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms NOT_TRANSLATED -en nl HP:0033007 rdfs:label Architectural distortion of the lung Architectural distortion of the lung NOT_TRANSLATED -en nl HP:0033007 IAO:0000115 Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss NOT_TRANSLATED -en nl HP:0000240 rdfs:label Abnormality of skull size Afwijking van de grootte van de schedel CANDIDATE -en nl HP:0000240 IAO:0000115 Any abnormality of the size of the skull Any abnormality of the size of the skull NOT_TRANSLATED -en nl HP:0033008 rdfs:label Increased Z-disc width Increased Z-disc width NOT_TRANSLATED -en nl HP:0033008 IAO:0000115 Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005) Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005) NOT_TRANSLATED -en nl HP:0033009 rdfs:label Increased fecal coproporphyrin 1 Increased fecal coproporphyrin 1 NOT_TRANSLATED -en nl HP:0033009 IAO:0000115 Abnormally high concentration of coproporphyrin 3 in feces Abnormally high concentration of coproporphyrin 3 in feces NOT_TRANSLATED -en nl HP:0000242 rdfs:label Parietal bossing Pariëtale opdruk CANDIDATE -en nl HP:0000242 IAO:0000115 Parietal bossing is a marked prominence in the parietal region Parietal bossing is a marked prominence in the parietal region NOT_TRANSLATED -en nl HP:0033010 rdfs:label Increased fecal coproporphyrin 3 Increased fecal coproporphyrin 3 NOT_TRANSLATED -en nl HP:0033010 IAO:0000115 Abnormally high concentration of coproporphyrin 3 in feces Abnormally high concentration of coproporphyrin 3 in feces NOT_TRANSLATED -en nl HP:0000243 rdfs:label Trigonocephaly Trigonocefalie CANDIDATE -en nl HP:0000243 IAO:0000115 Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput NOT_TRANSLATED -en nl HP:0033011 rdfs:label Platystencephaly Platystencephaly NOT_TRANSLATED -en nl HP:0033011 IAO:0000115 Extreme width of the skull in the occipital region, with anterior narrowing and prognathism Extreme width of the skull in the occipital region, with anterior narrowing and prognathism NOT_TRANSLATED -en nl HP:0000244 rdfs:label Brachyturricephaly Brachyturricefalie CANDIDATE -en nl HP:0000244 IAO:0000115 Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region NOT_TRANSLATED -en nl HP:0033012 rdfs:label Abnormal salivary metabolite concentration Abnormal salivary metabolite concentration NOT_TRANSLATED -en nl HP:0033012 IAO:0000115 Any deviation from the normal concentration of a metabolite in saliva Any deviation from the normal concentration of a metabolite in saliva NOT_TRANSLATED -en nl HP:0000245 rdfs:label Abnormal paranasal sinus morphology Afwijking van de paranasale sinussen CANDIDATE -en nl HP:0000245 IAO:0000115 Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses NOT_TRANSLATED -en nl HP:0033013 rdfs:label Abnormal salivary cortisol level Abnormal salivary cortisol level NOT_TRANSLATED -en nl HP:0033013 IAO:0000115 Any deviation from the normal concentration of cortisol in saliva Any deviation from the normal concentration of cortisol in saliva NOT_TRANSLATED -en nl HP:0000246 rdfs:label Sinusitis Sinusitis CANDIDATE -en nl HP:0000246 IAO:0000115 Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction NOT_TRANSLATED -en nl HP:0033014 rdfs:label Decreased salivary cortisol level Decreased salivary cortisol level NOT_TRANSLATED -en nl HP:0033014 IAO:0000115 Abnormally reduced concentration of cortisol in saliva Abnormally reduced concentration of cortisol in saliva NOT_TRANSLATED -en nl HP:0033015 rdfs:label Increased salivary cortisol level Increased salivary cortisol level NOT_TRANSLATED -en nl HP:0033015 IAO:0000115 Abnormally elevated concentration of cortisol in saliva Abnormally elevated concentration of cortisol in saliva NOT_TRANSLATED -en nl HP:0000248 rdfs:label Brachycephaly Brachycephalie CANDIDATE -en nl HP:0000248 IAO:0000115 An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width NOT_TRANSLATED -en nl HP:0033016 rdfs:label Chronic decreased circulating IgD Chronic decreased circulating IgD NOT_TRANSLATED -en nl HP:0033016 IAO:0000115 A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood NOT_TRANSLATED -en nl HP:0033017 rdfs:label Transient decreased circulating IgD Transient decreased circulating IgD NOT_TRANSLATED -en nl HP:0033017 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation NOT_TRANSLATED -en nl HP:0000250 rdfs:label Dense calvaria Dicht calvaria CANDIDATE -en nl HP:0000250 IAO:0000115 An abnormal increase of density of the bones making up the calvaria An abnormal increase of density of the bones making up the calvaria NOT_TRANSLATED -en nl HP:0033018 rdfs:label Chronic absent circulating IgD Chronic absent circulating IgD NOT_TRANSLATED -en nl HP:0033018 IAO:0000115 A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured NOT_TRANSLATED -en nl HP:0033019 rdfs:label Male reproductive system neoplasm Male reproductive system neoplasm NOT_TRANSLATED -en nl HP:0033019 IAO:0000115 A neoplasm that affects the male reproductive system A neoplasm that affects the male reproductive system NOT_TRANSLATED -en nl HP:0000252 rdfs:label Microcephaly Microcefalie CANDIDATE -en nl HP:0000252 IAO:0000115 Head circumference below 2 standard deviations below the mean for age and gender Head circumference below 2 standard deviations below the mean for age and gender NOT_TRANSLATED -en nl HP:0033020 rdfs:label Female reproductive system neoplasm Female reproductive system neoplasm NOT_TRANSLATED -en nl HP:0033020 IAO:0000115 A neoplasm that affects the female reproductive system A neoplasm that affects the female reproductive system NOT_TRANSLATED -en nl HP:0000253 rdfs:label Progressive microcephaly Progressieve microcefalie CANDIDATE -en nl HP:0000253 IAO:0000115 Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms Progressieve microcefalie wordt gediagnostiseerd als de schedelomtrek achterblijft bij de leeftijd en geslacht afhankelijke normen CANDIDATE -en nl HP:0033021 rdfs:label Transient decreased circulating IgE Transient decreased circulating IgE NOT_TRANSLATED -en nl HP:0033021 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood NOT_TRANSLATED -en nl HP:0033022 rdfs:label Chronic decreased circulating IgE Chronic decreased circulating IgE NOT_TRANSLATED -en nl HP:0033022 IAO:0000115 A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood NOT_TRANSLATED -en nl HP:0000255 rdfs:label Acute sinusitis Acute sinusitis CANDIDATE -en nl HP:0000255 IAO:0000115 An acute form of sinusitis Een acute vorm van sinusitis CANDIDATE -en nl HP:0033023 rdfs:label Chronic absent circulating IgE Chronic absent circulating IgE NOT_TRANSLATED -en nl HP:0033023 IAO:0000115 A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured NOT_TRANSLATED -en nl HP:0000256 rdfs:label Macrocephaly Macrocefalie CANDIDATE -en nl HP:0000256 IAO:0000115 Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium NOT_TRANSLATED -en nl HP:0033024 rdfs:label Transient decreased circulating IgA Transient decreased circulating IgA NOT_TRANSLATED -en nl HP:0033024 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation NOT_TRANSLATED -en nl HP:0033025 rdfs:label Chronic absent circulating total IgG Chronic absent circulating total IgG NOT_TRANSLATED -en nl HP:0033025 IAO:0000115 A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured NOT_TRANSLATED -en nl HP:0033026 rdfs:label White oral mucosal macule White oral mucosal macule NOT_TRANSLATED -en nl HP:0033026 IAO:0000115 A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed NOT_TRANSLATED -en nl HP:0033027 rdfs:label Retinal peau d'orange Retinal peau d'orange NOT_TRANSLATED -en nl HP:0033027 IAO:0000115 A pebbly orange appearance of the fundus that is said to resemble the skin of an orange A pebbly orange appearance of the fundus that is said to resemble the skin of an orange NOT_TRANSLATED -en nl HP:0000260 rdfs:label Wide anterior fontanel Wijde voorste fontanel CANDIDATE -en nl HP:0000260 IAO:0000115 Enlargement of the anterior fontanelle with respect to age-dependent norms Enlargement of the anterior fontanelle with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0033028 rdfs:label Anti-U1 ribonucleoprotein antibody positivity Anti-U1 ribonucleoprotein antibody positivity NOT_TRANSLATED -en nl HP:0033028 IAO:0000115 The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP NOT_TRANSLATED -en nl HP:0000262 rdfs:label Turricephaly Turricefalie CANDIDATE -en nl HP:0000262 IAO:0000115 Tall head relative to width and length Tall head relative to width and length NOT_TRANSLATED -en nl HP:0033030 rdfs:label Anti-glomerular basement membrane-antibody positivity Anti-glomerular basement membrane-antibody positivity NOT_TRANSLATED -en nl HP:0033030 IAO:0000115 The presence of autoantibodies in the serum that react to the glomerular basement membrane The presence of autoantibodies in the serum that react to the glomerular basement membrane NOT_TRANSLATED -en nl HP:0000263 rdfs:label Oxycephaly Oxycefalie CANDIDATE -en nl HP:0000263 IAO:0000115 Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull NOT_TRANSLATED -en nl HP:0033031 rdfs:label Hyperpyrexia Hyperpyrexia NOT_TRANSLATED -en nl HP:0033031 IAO:0000115 An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit) An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit) NOT_TRANSLATED -en nl HP:0000264 rdfs:label Abnormal mastoid morphology Afwijking van het mastoid CANDIDATE -en nl HP:0000264 IAO:0000115 An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone NOT_TRANSLATED -en nl HP:0033032 rdfs:label Triggered by an abusive adult Triggered by an abusive adult NOT_TRANSLATED -en nl HP:0033032 IAO:0000115 Applies to a sign or symptom that is induced by an abusive adult (usually a parent) Applies to a sign or symptom that is induced by an abusive adult (usually a parent) NOT_TRANSLATED -en nl HP:0000265 rdfs:label Mastoiditis Mastoïditis CANDIDATE -en nl HP:0033033 rdfs:label Anti-MDA5 antibody positivity Anti-MDA5 antibody positivity NOT_TRANSLATED -en nl HP:0033033 IAO:0000115 The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5) The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5) NOT_TRANSLATED -en nl HP:0033034 rdfs:label Anti-citrullinated protein antibody positivity Anti-citrullinated protein antibody positivity NOT_TRANSLATED -en nl HP:0033034 IAO:0000115 The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen NOT_TRANSLATED -en nl HP:0000267 rdfs:label Cranial asymmetry Craniale asymmetrie CANDIDATE -en nl HP:0000267 IAO:0000115 Asymmetry of the bones of the skull Asymmetry of the bones of the skull NOT_TRANSLATED -en nl HP:0033035 rdfs:label Abnormal Schwann cell morphology Abnormal Schwann cell morphology NOT_TRANSLATED -en nl HP:0033035 IAO:0000115 Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function NOT_TRANSLATED -en nl HP:0000268 rdfs:label Dolichocephaly Dolichocefalie CANDIDATE -en nl HP:0000268 IAO:0000115 An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture NOT_TRANSLATED -en nl HP:0033036 rdfs:label Decreased nasal nitric oxide Decreased nasal nitric oxide NOT_TRANSLATED -en nl HP:0033036 IAO:0000115 Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure NOT_TRANSLATED -en nl HP:0000269 rdfs:label Prominent occiput Prominent occiput CANDIDATE -en nl HP:0000269 IAO:0000115 Increased convexity of the occiput (posterior part of the skull) Increased convexity of the occiput (posterior part of the skull) NOT_TRANSLATED -en nl HP:0033037 rdfs:label Migratory arthritis Migratory arthritis NOT_TRANSLATED -en nl HP:0000270 rdfs:label Delayed cranial suture closure Vertraagde schedelnaadsluiting CANDIDATE -en nl HP:0000270 IAO:0000115 Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age NOT_TRANSLATED -en nl HP:0033038 rdfs:label Anti-RNA-polymerase-III-autoantibody positivity Anti-RNA-polymerase-III-autoantibody positivity NOT_TRANSLATED -en nl HP:0033038 IAO:0000115 The presence of autoantibodies in the serum that react to RNA-polymerase III The presence of autoantibodies in the serum that react to RNA-polymerase III NOT_TRANSLATED -en nl HP:0000271 rdfs:label Abnormality of the face Afwijking van het gezicht CANDIDATE -en nl HP:0000271 IAO:0000115 An abnormality of the face Een afwijking van het gezicht CANDIDATE -en nl HP:0033039 rdfs:label Increased circulating precipitin level Increased circulating precipitin level NOT_TRANSLATED -en nl HP:0033039 IAO:0000115 The presence of high titers of antigen-precipitating IgG in the serum The presence of high titers of antigen-precipitating IgG in the serum NOT_TRANSLATED -en nl HP:0000272 rdfs:label Malar flattening Zygomatische afvlakking CANDIDATE -en nl HP:0000272 IAO:0000115 Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation NOT_TRANSLATED -en nl HP:0033040 rdfs:label Anti-Sm antibody positivity Anti-Sm antibody positivity NOT_TRANSLATED -en nl HP:0033040 IAO:0000115 The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles NOT_TRANSLATED -en nl HP:0000273 rdfs:label Facial grimacing Vertrokken gezicht CANDIDATE -en nl HP:0033041 rdfs:label Cytokine storm Cytokine storm NOT_TRANSLATED -en nl HP:0033041 IAO:0000115 Excessive or uncontrolled release of proinflammatory cytokines Excessive or uncontrolled release of proinflammatory cytokines NOT_TRANSLATED -en nl HP:0000274 rdfs:label Small face Smal gelaat CANDIDATE -en nl HP:0000274 IAO:0000115 A face that is short and narrow A face that is short and narrow NOT_TRANSLATED -en nl HP:0033042 rdfs:label Abnormal chorion morphology Abnormal chorion morphology NOT_TRANSLATED -en nl HP:0033042 IAO:0000115 Any structural anomaly of the fetal part of the placenta, which is known as the chorion Any structural anomaly of the fetal part of the placenta, which is known as the chorion NOT_TRANSLATED -en nl HP:0000275 rdfs:label Narrow face Smal gelaat CANDIDATE -en nl HP:0000275 IAO:0000115 Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective) Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective) NOT_TRANSLATED -en nl HP:0033043 rdfs:label Edematous chorionic villi Edematous chorionic villi NOT_TRANSLATED -en nl HP:0033043 IAO:0000115 Swelling of the chorionic villi owing to fluid accumulation Swelling of the chorionic villi owing to fluid accumulation NOT_TRANSLATED -en nl HP:0000276 rdfs:label Long face Lang gelaat CANDIDATE -en nl HP:0000276 IAO:0000115 Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective) Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective) NOT_TRANSLATED -en nl HP:0033044 rdfs:label Motor regression Motor regression NOT_TRANSLATED -en nl HP:0033044 IAO:0000115 Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones NOT_TRANSLATED -en nl HP:0000277 rdfs:label Abnormal mandible morphology Afwijking van de mandibula CANDIDATE -en nl HP:0000277 IAO:0000115 Any abnormality of the mandible, the bone of the lower jaw Any abnormality of the mandible, the bone of the lower jaw NOT_TRANSLATED -en nl HP:0033045 rdfs:label Bipedal edema Bipedal edema NOT_TRANSLATED -en nl HP:0033045 IAO:0000115 A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid) A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid) NOT_TRANSLATED -en nl HP:0000278 rdfs:label Retrognathia Retrognathie CANDIDATE -en nl HP:0000278 IAO:0000115 An abnormality in which the mandible is mislocalised posteriorly An abnormality in which the mandible is mislocalised posteriorly NOT_TRANSLATED -en nl HP:0033046 rdfs:label Michaelis-Gutmann bodies Michaelis-Gutmann bodies NOT_TRANSLATED -en nl HP:0033046 IAO:0000115 Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria NOT_TRANSLATED -en nl HP:0033047 rdfs:label Body ache Body ache NOT_TRANSLATED -en nl HP:0033047 IAO:0000115 Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body NOT_TRANSLATED -en nl HP:0000280 rdfs:label Coarse facial features Grove gelaatstrekken CANDIDATE -en nl HP:0000280 IAO:0000115 Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues NOT_TRANSLATED -en nl HP:0033048 rdfs:label Substantia nigra hypointensity on susceptibility-weighted imaging Substantia nigra hypointensity on susceptibility-weighted imaging NOT_TRANSLATED -en nl HP:0033048 IAO:0000115 Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI) Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI) NOT_TRANSLATED -en nl HP:0033049 rdfs:label Globus pallidus hypointensity on susceptibility-weighted imaging Globus pallidus hypointensity on susceptibility-weighted imaging NOT_TRANSLATED -en nl HP:0033049 IAO:0000115 Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI) Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI) NOT_TRANSLATED -en nl HP:0000282 rdfs:label Facial edema Faciaal oedeem CANDIDATE -en nl HP:0033050 rdfs:label Pharyngalgia Pharyngalgia NOT_TRANSLATED -en nl HP:0033050 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat NOT_TRANSLATED -en nl HP:0000283 rdfs:label Broad face Breed gelaat CANDIDATE -en nl HP:0000283 IAO:0000115 Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective) Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective) NOT_TRANSLATED -en nl HP:0033051 rdfs:label Impaired executive functioning Impaired executive functioning NOT_TRANSLATED -en nl HP:0033051 IAO:0000115 A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia NOT_TRANSLATED -en nl HP:0033052 rdfs:label Psychogenic non-epileptic seizure Psychogenic non-epileptic seizure NOT_TRANSLATED -en nl HP:0033052 IAO:0000115 Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging NOT_TRANSLATED -en nl HP:0033053 rdfs:label Pseudoseizure Pseudoseizure NOT_TRANSLATED -en nl HP:0033053 IAO:0000115 Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges NOT_TRANSLATED -en nl HP:0000286 rdfs:label Epicanthus Epicanthus CANDIDATE -en nl HP:0000286 IAO:0000115 A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus NOT_TRANSLATED -en nl HP:0033054 rdfs:label Myoclonic tremor Myoclonic tremor NOT_TRANSLATED -en nl HP:0033054 IAO:0000115 A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures NOT_TRANSLATED -en nl HP:0000287 rdfs:label Increased facial adipose tissue Toegenomen vetweefsel van het gelaat CANDIDATE -en nl HP:0000287 IAO:0000115 An increased amount of subcutaneous fat tissue in the face An increased amount of subcutaneous fat tissue in the face NOT_TRANSLATED -en nl HP:0033055 rdfs:label Impaired ability to plan Impaired ability to plan NOT_TRANSLATED -en nl HP:0033055 IAO:0000115 Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity NOT_TRANSLATED -en nl HP:0000288 rdfs:label Abnormality of the philtrum Afwijking van het filtrum CANDIDATE -en nl HP:0000288 IAO:0000115 An abnormality of the philtrum An abnormality of the philtrum NOT_TRANSLATED -en nl HP:0033056 rdfs:label Impaired ability to organize Impaired ability to organize NOT_TRANSLATED -en nl HP:0033056 IAO:0000115 Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine NOT_TRANSLATED -en nl HP:0000289 rdfs:label Broad philtrum Breed filtrum CANDIDATE -en nl HP:0000289 IAO:0000115 Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum NOT_TRANSLATED -en nl HP:0033057 rdfs:label Decreased serum terminal complement component Decreased serum terminal complement component NOT_TRANSLATED -en nl HP:0033057 IAO:0000115 Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9 Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9 NOT_TRANSLATED -en nl HP:0000290 rdfs:label Abnormality of the forehead Afwijking van het voorhoofd CANDIDATE -en nl HP:0000290 IAO:0000115 An anomaly of the forehead An anomaly of the forehead NOT_TRANSLATED -en nl HP:0033058 rdfs:label Decreased serum complement C7 Decreased serum complement C7 NOT_TRANSLATED -en nl HP:0033058 IAO:0000115 A reduced level of the complement component C7 in the blood circulation A reduced level of the complement component C7 in the blood circulation NOT_TRANSLATED -en nl HP:0000291 rdfs:label Abnormality of facial adipose tissue Afwijking van vetweefsel van het gelaat CANDIDATE -en nl HP:0033059 rdfs:label Decreased serum complement C6 Decreased serum complement C6 NOT_TRANSLATED -en nl HP:0033059 IAO:0000115 A reduced level of the complement component C6 in the blood circulation A reduced level of the complement component C6 in the blood circulation NOT_TRANSLATED -en nl HP:0000292 rdfs:label Loss of facial adipose tissue Verlies van vetweefsel van het gelaat CANDIDATE -en nl HP:0000292 IAO:0000115 Loss of normal subcutaneous fat tissue in the face Loss of normal subcutaneous fat tissue in the face NOT_TRANSLATED -en nl HP:0033060 rdfs:label Decreased serum complement C5 Decreased serum complement C5 NOT_TRANSLATED -en nl HP:0033060 IAO:0000115 A reduced level of the complement component C5 in the blood circulation A reduced level of the complement component C5 in the blood circulation NOT_TRANSLATED -en nl HP:0000293 rdfs:label Full cheeks Volle wangen CANDIDATE -en nl HP:0000293 IAO:0000115 Increased prominence or roundness of soft tissues between zygomata and mandible Increased prominence or roundness of soft tissues between zygomata and mandible NOT_TRANSLATED -en nl HP:0033061 rdfs:label Increased factor IX activity Increased factor IX activity NOT_TRANSLATED -en nl HP:0033061 IAO:0000115 Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa NOT_TRANSLATED -en nl HP:0000294 rdfs:label Low anterior hairline Lage voorste haarlijn CANDIDATE -en nl HP:0000294 IAO:0000115 Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella NOT_TRANSLATED -en nl HP:0033062 rdfs:label Abnormal factor IX activity Abnormal factor IX activity NOT_TRANSLATED -en nl HP:0033062 IAO:0000115 Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa NOT_TRANSLATED -en nl HP:0000295 rdfs:label Doll-like facies Popachtig gelaat CANDIDATE -en nl HP:0000295 IAO:0000115 A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin NOT_TRANSLATED -en nl HP:0033063 rdfs:label Shortened sleep cycle Shortened sleep cycle NOT_TRANSLATED -en nl HP:0033063 IAO:0000115 A tendency to sleep less hours than usual while feeling well rested A tendency to sleep less hours than usual while feeling well rested NOT_TRANSLATED -en nl HP:0033064 rdfs:label Renal interstitial globotriaosylceramide inclusions Renal interstitial globotriaosylceramide inclusions NOT_TRANSLATED -en nl HP:0033064 IAO:0000115 Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC) Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC) NOT_TRANSLATED -en nl HP:0000297 rdfs:label Facial hypotonia Faciale hypotonie CANDIDATE -en nl HP:0000297 IAO:0000115 Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve) Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED -en nl HP:0033065 rdfs:label Mild albuminuria Mild albuminuria NOT_TRANSLATED -en nl HP:0033065 IAO:0000115 The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol) The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol) NOT_TRANSLATED -en nl HP:0000298 rdfs:label Mask-like facies Maskerachtig gelaat CANDIDATE -en nl HP:0000298 IAO:0000115 A lack of facial expression often with staring eyes and a slightly open mouth A lack of facial expression often with staring eyes and a slightly open mouth NOT_TRANSLATED -en nl HP:0033066 rdfs:label Severe albuminuria Severe albuminuria NOT_TRANSLATED -en nl HP:0033066 IAO:0000115 The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol) The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol) NOT_TRANSLATED -en nl HP:0033067 rdfs:label Cystine crystalluria Cystine crystalluria NOT_TRANSLATED -en nl HP:0000300 rdfs:label Oval face Ovaal gelaat CANDIDATE -en nl HP:0000300 IAO:0000115 A face with a rounded and slightly elongated outline A face with a rounded and slightly elongated outline NOT_TRANSLATED -en nl HP:0033068 rdfs:label Medication crystalluria Medication crystalluria NOT_TRANSLATED -en nl HP:0033068 IAO:0000115 A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance NOT_TRANSLATED -en nl HP:0000301 rdfs:label Abnormality of facial musculature Afwijking van aangezichtsmusculatuur CANDIDATE -en nl HP:0000301 IAO:0000115 An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve) An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED -en nl HP:0033069 rdfs:label Renal interstitial IgG4+ plasma cell infiltration Renal interstitial IgG4+ plasma cell infiltration NOT_TRANSLATED -en nl HP:0033069 IAO:0000115 An increased number of IgG4+ plasma cells in the interstitial space of the kidney An increased number of IgG4+ plasma cells in the interstitial space of the kidney NOT_TRANSLATED -en nl HP:0033070 rdfs:label Impaired self monitoring Impaired self monitoring NOT_TRANSLATED -en nl HP:0033070 IAO:0000115 Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior NOT_TRANSLATED -en nl HP:0000303 rdfs:label Mandibular prognathia Mandibulaire prognathie CANDIDATE -en nl HP:0000303 IAO:0000115 Abnormal prominence of the chin related to increased length of the mandible Abnormal prominence of the chin related to increased length of the mandible NOT_TRANSLATED -en nl HP:0033071 rdfs:label Impaired task monitoring Impaired task monitoring NOT_TRANSLATED -en nl HP:0033071 IAO:0000115 Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal NOT_TRANSLATED -en nl HP:0033072 rdfs:label Abnormal macroscopic urine appearance Abnormal macroscopic urine appearance NOT_TRANSLATED -en nl HP:0033072 IAO:0000115 Anomalous physical appearance (color, cloudiness, clarity) or odor of urine Anomalous physical appearance (color, cloudiness, clarity) or odor of urine NOT_TRANSLATED -en nl HP:0033073 rdfs:label Urate tophus Urate tophus NOT_TRANSLATED -en nl HP:0033073 IAO:0000115 Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi NOT_TRANSLATED -en nl HP:0000306 rdfs:label Abnormality of the chin Afwijking van de kin CANDIDATE -en nl HP:0000306 IAO:0000115 An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw NOT_TRANSLATED -en nl HP:0033074 rdfs:label Steroid-responsive anemia Steroid-responsive anemia NOT_TRANSLATED -en nl HP:0033074 IAO:0000115 Amelioration of anemia upon treatment with a steroid medication Amelioration of anemia upon treatment with a steroid medication NOT_TRANSLATED -en nl HP:0000307 rdfs:label Pointed chin Spitse kin CANDIDATE -en nl HP:0000307 IAO:0000115 A marked tapering of the lower face to the chin A marked tapering of the lower face to the chin NOT_TRANSLATED -en nl HP:0033075 rdfs:label Inappropriately normal thyroid-stimulating hormone level Inappropriately normal thyroid-stimulating hormone level NOT_TRANSLATED -en nl HP:0033075 IAO:0000115 A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3 A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3 NOT_TRANSLATED -en nl HP:0000308 rdfs:label Microretrognathia Microretrognathie CANDIDATE -en nl HP:0000308 IAO:0000115 A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly NOT_TRANSLATED -en nl HP:0033076 rdfs:label Abnormal circulating free T4 concentration Abnormal circulating free T4 concentration NOT_TRANSLATED -en nl HP:0033076 IAO:0000115 A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects NOT_TRANSLATED -en nl HP:0000309 rdfs:label Abnormal midface morphology Afwijking van de middengelaat CANDIDATE -en nl HP:0000309 IAO:0000115 An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface NOT_TRANSLATED -en nl HP:0033077 rdfs:label Increased circulating free T4 concentration Increased circulating free T4 concentration NOT_TRANSLATED -en nl HP:0033077 IAO:0000115 An elevated concentration of free thyroxine (fT4) in the blood circulation An elevated concentration of free thyroxine (fT4) in the blood circulation NOT_TRANSLATED -en nl HP:0033078 rdfs:label Decreased circulating free T4 concentration Decreased circulating free T4 concentration NOT_TRANSLATED -en nl HP:0033078 IAO:0000115 A reduced concentration of free thyroxine (fT4) in the blood circulation A reduced concentration of free thyroxine (fT4) in the blood circulation NOT_TRANSLATED -en nl HP:0000311 rdfs:label Round face Rond gelaat CANDIDATE -en nl HP:0000311 IAO:0000115 The facial appearance is more circular than usual as viewed from the front The facial appearance is more circular than usual as viewed from the front NOT_TRANSLATED -en nl HP:0033079 rdfs:label Aplasia/Hypoplasia of the thyroid gland Aplasia/Hypoplasia of the thyroid gland NOT_TRANSLATED -en nl HP:0033079 IAO:0000115 Absence or underdevelopment of the thyroid gland Absence or underdevelopment of the thyroid gland NOT_TRANSLATED -en nl HP:0033080 rdfs:label Abnormal TSH response to thyrotrophin-releasing hormone stimulation test Abnormal TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED -en nl HP:0033080 IAO:0000115 Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test NOT_TRANSLATED -en nl HP:0033081 rdfs:label Absent TSH response to thyrotrophin-releasing hormone stimulation test Absent TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED -en nl HP:0033081 IAO:0000115 Failure to increase serum TSH levels in response to a TRH stimulation test Failure to increase serum TSH levels in response to a TRH stimulation test NOT_TRANSLATED -en nl HP:0033082 rdfs:label Reduced TSH response to thyrotrophin-releasing hormone stimulation test Reduced TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED -en nl HP:0033082 IAO:0000115 A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED -en nl HP:0000315 rdfs:label Abnormality of the orbital region Afwijking van de orbitale regio CANDIDATE -en nl HP:0033083 rdfs:label Increased circulating farnesol concentration Increased circulating farnesol concentration NOT_TRANSLATED -en nl HP:0033083 IAO:0000115 An elevated level of farnesol in the blood circulation An elevated level of farnesol in the blood circulation NOT_TRANSLATED -en nl HP:0000316 rdfs:label Hypertelorism Hypertelorisme CANDIDATE -en nl HP:0000316 IAO:0000115 Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes) Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes) NOT_TRANSLATED -en nl HP:0033084 rdfs:label Abnormal antral follicle count Abnormal antral follicle count NOT_TRANSLATED -en nl HP:0033084 IAO:0000115 Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve NOT_TRANSLATED -en nl HP:0000317 rdfs:label Facial myokymia Faciale myokymie CANDIDATE -en nl HP:0000317 IAO:0000115 Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve) Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED -en nl HP:0033085 rdfs:label Reduced antral follicle count Reduced antral follicle count NOT_TRANSLATED -en nl HP:0033085 IAO:0000115 A count of antral follicles that is lower than normal for age A count of antral follicles that is lower than normal for age NOT_TRANSLATED -en nl HP:0033086 rdfs:label Increased antral follicle count Increased antral follicle count NOT_TRANSLATED -en nl HP:0033086 IAO:0000115 A count of antral follicles that is higher than normal for age A count of antral follicles that is higher than normal for age NOT_TRANSLATED -en nl HP:0000319 rdfs:label Smooth philtrum Vlak filtrum CANDIDATE -en nl HP:0000319 IAO:0000115 Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border NOT_TRANSLATED -en nl HP:0033087 rdfs:label Quotidian fever Quotidian fever NOT_TRANSLATED -en nl HP:0033087 IAO:0000115 Fever that occurs at daily intervals Fever that occurs at daily intervals NOT_TRANSLATED -en nl HP:0000320 rdfs:label Bird-like facies Vogelachtig gelaat CANDIDATE -en nl HP:0033088 rdfs:label Valinuria Valinuria NOT_TRANSLATED -en nl HP:0033088 IAO:0000115 Urine valine level above the normal range Urine valine level above the normal range NOT_TRANSLATED -en nl HP:0000321 rdfs:label Square face Vierkant gelaat CANDIDATE -en nl HP:0000321 IAO:0000115 Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance NOT_TRANSLATED -en nl HP:0033089 rdfs:label Branched-chain aminoaciduria Branched-chain aminoaciduria NOT_TRANSLATED -en nl HP:0033089 IAO:0000115 An increased level of a branched chain family amino acid in the urine An increased level of a branched chain family amino acid in the urine NOT_TRANSLATED -en nl HP:0000322 rdfs:label Short philtrum Kort filtrum CANDIDATE -en nl HP:0000322 IAO:0000115 Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border NOT_TRANSLATED -en nl HP:0033090 rdfs:label Increased aromatic amino acid level in urine Increased aromatic amino acid level in urine NOT_TRANSLATED -en nl HP:0033090 IAO:0000115 An elevated level of an aromatic amino acid in the urine An elevated level of an aromatic amino acid in the urine NOT_TRANSLATED -en nl HP:0033091 rdfs:label Tyrosinuria Tyrosinuria NOT_TRANSLATED -en nl HP:0033091 IAO:0000115 An abnormally increased level of tyrosine in the urine An abnormally increased level of tyrosine in the urine NOT_TRANSLATED -en nl HP:0000324 rdfs:label Facial asymmetry Faciale asymmetrie CANDIDATE -en nl HP:0000324 IAO:0000115 An abnormal difference between the left and right sides of the face An abnormal difference between the left and right sides of the face NOT_TRANSLATED -en nl HP:0033092 rdfs:label Increased urine succinate level Increased urine succinate level NOT_TRANSLATED -en nl HP:0033092 IAO:0000115 An increase in the level of succinate in the urine An increase in the level of succinate in the urine NOT_TRANSLATED -en nl HP:0000325 rdfs:label Triangular face Driehoekig gelaat CANDIDATE -en nl HP:0000325 IAO:0000115 Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin NOT_TRANSLATED -en nl HP:0033093 rdfs:label Increased glutamine family amino acid level in urine Increased glutamine family amino acid level in urine NOT_TRANSLATED -en nl HP:0033093 IAO:0000115 An elevated level of an glutamine family amino acid in the urine An elevated level of an glutamine family amino acid in the urine NOT_TRANSLATED -en nl HP:0000326 rdfs:label Abnormality of the maxilla Afwijking van de maxilla CANDIDATE -en nl HP:0000326 IAO:0000115 An abnormality of the Maxilla (upper jaw bone) An abnormality of the Maxilla (upper jaw bone) NOT_TRANSLATED -en nl HP:0033094 rdfs:label Increased urine glutamate level Increased urine glutamate level NOT_TRANSLATED -en nl HP:0033094 IAO:0000115 An increased concentration of glutamate in the urine An increased concentration of glutamate in the urine NOT_TRANSLATED -en nl HP:0000327 rdfs:label Hypoplasia of the maxilla Hypoplasie van de maxilla CANDIDATE -en nl HP:0000327 IAO:0000115 Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region NOT_TRANSLATED -en nl HP:0033095 rdfs:label Increased sulfur amino acid level in urine Increased sulfur amino acid level in urine NOT_TRANSLATED -en nl HP:0033095 IAO:0000115 An elevated level of a sulfur-containing amino acid in the urine An elevated level of a sulfur-containing amino acid in the urine NOT_TRANSLATED -en nl HP:0033096 rdfs:label Increased aspartate family amino acid level in urine Increased aspartate family amino acid level in urine NOT_TRANSLATED -en nl HP:0033096 IAO:0000115 An elevated level of an aspartate family amino acid in the urine An elevated level of an aspartate family amino acid in the urine NOT_TRANSLATED -en nl HP:0000329 rdfs:label Facial hemangioma Gezichtshemangioom CANDIDATE -en nl HP:0000329 IAO:0000115 Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face NOT_TRANSLATED -en nl HP:0033097 rdfs:label Increased urine proteinogenic amino acid derivative level Increased urine proteinogenic amino acid derivative level NOT_TRANSLATED -en nl HP:0033097 IAO:0000115 An elevated urine level of a compound that is derived from an amino acid An elevated urine level of a compound that is derived from an amino acid NOT_TRANSLATED -en nl HP:0033098 rdfs:label Increased urinary non-proteinogenic amino acid level Increased urinary non-proteinogenic amino acid level NOT_TRANSLATED -en nl HP:0033098 IAO:0000115 An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids NOT_TRANSLATED -en nl HP:0000331 rdfs:label Short chin Korte kin CANDIDATE -en nl HP:0000331 IAO:0000115 Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin NOT_TRANSLATED -en nl HP:0033099 rdfs:label Increased serine family amino acid in urine Increased serine family amino acid in urine NOT_TRANSLATED -en nl HP:0033099 IAO:0000115 An increased level of a serine family amino acid in the urine An increased level of a serine family amino acid in the urine NOT_TRANSLATED -en nl HP:0033100 rdfs:label Increased proteinogenic amino acid level in urine Increased proteinogenic amino acid level in urine NOT_TRANSLATED -en nl HP:0033100 IAO:0000115 An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine NOT_TRANSLATED -en nl HP:0033101 rdfs:label Elevated urine aconitic acid level Elevated urine aconitic acid level NOT_TRANSLATED -en nl HP:0033101 IAO:0000115 An abnormally increased level of aconitic acid in the urine An abnormally increased level of aconitic acid in the urine NOT_TRANSLATED -en nl HP:0033102 rdfs:label Monkey wrench femoral neck Monkey wrench femoral neck NOT_TRANSLATED -en nl HP:0033102 IAO:0000115 The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle NOT_TRANSLATED -en nl HP:0033103 rdfs:label Elevated circulating CHI3L1 level Elevated circulating CHI3L1 level NOT_TRANSLATED -en nl HP:0033103 IAO:0000115 Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation NOT_TRANSLATED -en nl HP:0000336 rdfs:label Prominent supraorbital ridges Prominente supraorbitale ruggen CANDIDATE -en nl HP:0000336 IAO:0000115 Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones NOT_TRANSLATED -en nl HP:0033104 rdfs:label Inappropriate absence of fever Inappropriate absence of fever NOT_TRANSLATED -en nl HP:0033104 IAO:0000115 Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response NOT_TRANSLATED -en nl HP:0000337 rdfs:label Broad forehead Breed voorhoofd CANDIDATE -en nl HP:0000337 IAO:0000115 Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead NOT_TRANSLATED -en nl HP:0033105 rdfs:label Interhypothalamic Adhesion Interhypothalamic Adhesion NOT_TRANSLATED -en nl HP:0033105 IAO:0000115 An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle NOT_TRANSLATED -en nl HP:0000338 rdfs:label Hypomimic face Hypomimisch gezicht CANDIDATE -en nl HP:0000338 IAO:0000115 A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation NOT_TRANSLATED -en nl HP:0033106 rdfs:label Elevated circulating D-dimer concentration Elevated circulating D-dimer concentration NOT_TRANSLATED -en nl HP:0033106 IAO:0000115 An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation NOT_TRANSLATED -en nl HP:0000339 rdfs:label Pugilistic facies Boksaangezicht CANDIDATE -en nl HP:0000339 IAO:0000115 Coarse facial features reminiscent of those of a boxer Coarse facial features reminiscent of those of a boxer NOT_TRANSLATED -en nl HP:0033107 rdfs:label Abnormal circulating proteinogenic amino acid concentration Abnormal circulating proteinogenic amino acid concentration NOT_TRANSLATED -en nl HP:0033107 IAO:0000115 An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine NOT_TRANSLATED -en nl HP:0000340 rdfs:label Sloping forehead Schuin voorhoofd CANDIDATE -en nl HP:0000340 IAO:0000115 Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view NOT_TRANSLATED -en nl HP:0033108 rdfs:label Abnormal circulating proteinogenic amino acid derivative concentration Abnormal circulating proteinogenic amino acid derivative concentration NOT_TRANSLATED -en nl HP:0033108 IAO:0000115 Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid NOT_TRANSLATED -en nl HP:0000341 rdfs:label Narrow forehead Smal voorhoofd CANDIDATE -en nl HP:0000341 IAO:0000115 Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective) Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective) NOT_TRANSLATED -en nl HP:0033109 rdfs:label Abnormal circulating non-proteinogenic amino acid concentration Abnormal circulating non-proteinogenic amino acid concentration NOT_TRANSLATED -en nl HP:0033109 IAO:0000115 Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids NOT_TRANSLATED -en nl HP:0033110 rdfs:label Elevated circulating alpha-aminobutyric acid concentration Elevated circulating alpha-aminobutyric acid concentration NOT_TRANSLATED -en nl HP:0033110 IAO:0000115 An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2 An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2 NOT_TRANSLATED -en nl HP:0000343 rdfs:label Long philtrum Lang filtrum CANDIDATE -en nl HP:0000343 IAO:0000115 Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border NOT_TRANSLATED -en nl HP:0033111 rdfs:label 3-hydroxyisovaleric aciduria 3-hydroxyisovaleric aciduria NOT_TRANSLATED -en nl HP:0033111 IAO:0000115 Concentration of 3-hydroxyisovaleric acid in the urine above the normal range Concentration of 3-hydroxyisovaleric acid in the urine above the normal range NOT_TRANSLATED -en nl HP:0033112 rdfs:label Elevated circulating apolipoprotein C-III concentration Elevated circulating apolipoprotein C-III concentration NOT_TRANSLATED -en nl HP:0033112 IAO:0000115 An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons NOT_TRANSLATED -en nl HP:0033113 rdfs:label Gallop rhythm Gallop rhythm NOT_TRANSLATED -en nl HP:0033113 IAO:0000115 In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse NOT_TRANSLATED -en nl HP:0000346 rdfs:label Whistling appearance Fluitend uiterlijk CANDIDATE -en nl HP:0000346 IAO:0000115 An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling NOT_TRANSLATED -en nl HP:0033114 rdfs:label Quadruple gallop rhythm Quadruple gallop rhythm NOT_TRANSLATED -en nl HP:0033114 IAO:0000115 A type of gallop rhytm in which both the third and the fourth sounds are present A type of gallop rhytm in which both the third and the fourth sounds are present NOT_TRANSLATED -en nl HP:0000347 rdfs:label Micrognathia Micrognathie CANDIDATE -en nl HP:0000347 IAO:0000115 Developmental hypoplasia of the mandible Developmental hypoplasia of the mandible NOT_TRANSLATED -en nl HP:0033115 rdfs:label Elevated circulating tenascin-C level Elevated circulating tenascin-C level NOT_TRANSLATED -en nl HP:0033115 IAO:0000115 Abnormally increased concentration of tenascin-C in the blood circulation Abnormally increased concentration of tenascin-C in the blood circulation NOT_TRANSLATED -en nl HP:0000348 rdfs:label High forehead Hoog voorhoofd CANDIDATE -en nl HP:0000348 IAO:0000115 An abnormally increased height of the forehead An abnormally increased height of the forehead NOT_TRANSLATED -en nl HP:0033116 rdfs:label Duodenal gastric metaplasia Duodenal gastric metaplasia NOT_TRANSLATED -en nl HP:0033116 IAO:0000115 Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border NOT_TRANSLATED -en nl HP:0000349 rdfs:label Widow's peak Widow's peak CANDIDATE -en nl HP:0000349 IAO:0000115 Frontal hairline with bilateral arcs to a low point in the midline of the forehead Frontal hairline with bilateral arcs to a low point in the midline of the forehead NOT_TRANSLATED -en nl HP:0033117 rdfs:label Duodenitis Duodenitis NOT_TRANSLATED -en nl HP:0033117 IAO:0000115 Inflammation of the lining of the upper small intestine (duodenum) Inflammation of the lining of the upper small intestine (duodenum) NOT_TRANSLATED -en nl HP:0000350 rdfs:label Small forehead Klein voorhoofd CANDIDATE -en nl HP:0000350 IAO:0000115 The presence of a forehead that is abnormally small The presence of a forehead that is abnormally small NOT_TRANSLATED -en nl HP:0033118 rdfs:label Abnormal right ventricular function Abnormal right ventricular function NOT_TRANSLATED -en nl HP:0033118 IAO:0000115 Anomalous physiology (function) of the right ventricle Anomalous physiology (function) of the right ventricle NOT_TRANSLATED -en nl HP:0033119 rdfs:label Elevated right ventricular systolic pressure Elevated right ventricular systolic pressure NOT_TRANSLATED -en nl HP:0033119 IAO:0000115 Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg NOT_TRANSLATED -en nl HP:0033120 rdfs:label Nummular eczema Nummular eczema NOT_TRANSLATED -en nl HP:0033120 IAO:0000115 A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet NOT_TRANSLATED -en nl HP:0033121 rdfs:label Barking cough Barking cough NOT_TRANSLATED -en nl HP:0033121 IAO:0000115 A cough with a characteristic sound that has been compared to a seal's bark A cough with a characteristic sound that has been compared to a seal's bark NOT_TRANSLATED -en nl HP:0033122 rdfs:label Absent P wave Absent P wave NOT_TRANSLATED -en nl HP:0033122 IAO:0000115 The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present NOT_TRANSLATED -en nl HP:0033123 rdfs:label Elevated circulating osteopontin level Elevated circulating osteopontin level NOT_TRANSLATED -en nl HP:0033123 IAO:0000115 Abnormally increased level of osteopontin in the blood circulation Abnormally increased level of osteopontin in the blood circulation NOT_TRANSLATED -en nl HP:0000356 rdfs:label Abnormality of the outer ear Afwijking van het uitwendige oor CANDIDATE -en nl HP:0000356 IAO:0000115 An abnormality of the external ear An abnormality of the external ear NOT_TRANSLATED -en nl HP:0033124 rdfs:label Increased serum sorbitol concentration Increased serum sorbitol concentration NOT_TRANSLATED -en nl HP:0033124 IAO:0000115 An increased level of sorbitol in the blood circulation An increased level of sorbitol in the blood circulation NOT_TRANSLATED -en nl HP:0000357 rdfs:label Abnormal location of ears Abnormale locatie van de oren CANDIDATE -en nl HP:0000357 IAO:0000115 Abnormal location of the ear Abnormal location of the ear NOT_TRANSLATED -en nl HP:0033125 rdfs:label Follicular lymphoma Follicular lymphoma NOT_TRANSLATED -en nl HP:0033125 IAO:0000115 An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement NOT_TRANSLATED -en nl HP:0000358 rdfs:label Posteriorly rotated ears Naar achteren gedraaide oren CANDIDATE -en nl HP:0000358 IAO:0000115 A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front) A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front) NOT_TRANSLATED -en nl HP:0033126 rdfs:label Cutaneous necrosis Cutaneous necrosis NOT_TRANSLATED -en nl HP:0033126 IAO:0000115 Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin NOT_TRANSLATED -en nl HP:0000359 rdfs:label Abnormality of the inner ear Afwijking van het binnenoor CANDIDATE -en nl HP:0000359 IAO:0000115 An abnormality of the inner ear An abnormality of the inner ear NOT_TRANSLATED -en nl HP:0033127 rdfs:label Abnormality of the musculoskeletal system Abnormality of the musculoskeletal system NOT_TRANSLATED -en nl HP:0033127 IAO:0000115 An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body NOT_TRANSLATED -en nl HP:0000360 rdfs:label Tinnitus Tinnitus CANDIDATE -en nl HP:0000360 IAO:0000115 Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation NOT_TRANSLATED -en nl HP:0033128 rdfs:label Delayed ability to crawl Delayed ability to crawl NOT_TRANSLATED -en nl HP:0033128 IAO:0000115 A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months NOT_TRANSLATED -en nl HP:0033129 rdfs:label Abnormal shoulder physiology Abnormal shoulder physiology NOT_TRANSLATED -en nl HP:0033129 IAO:0000115 Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm NOT_TRANSLATED -en nl HP:0000362 rdfs:label Otosclerosis Otosclerose CANDIDATE -en nl HP:0000362 IAO:0000115 In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss NOT_TRANSLATED -en nl HP:0033130 rdfs:label Abnormal renal echogenicity Abnormal renal echogenicity NOT_TRANSLATED -en nl HP:0033130 IAO:0000115 Anomalous echogenicity of the kidney on ultrasound examination Anomalous echogenicity of the kidney on ultrasound examination NOT_TRANSLATED -en nl HP:0000363 rdfs:label Abnormal earlobe morphology Afwijking van de oorlel CANDIDATE -en nl HP:0000363 IAO:0000115 An abnormality of the lobule of pinna An abnormality of the lobule of pinna NOT_TRANSLATED -en nl HP:0033131 rdfs:label Renal medullary hyperechogenicity Renal medullary hyperechogenicity NOT_TRANSLATED -en nl HP:0033131 IAO:0000115 Increased echogenecity of the medullary region of the kidney Increased echogenecity of the medullary region of the kidney NOT_TRANSLATED -en nl HP:0000364 rdfs:label Hearing abnormality Gehoor abnormaliteit CANDIDATE -en nl HP:0000364 IAO:0000115 An abnormality of the sensory perception of sound An abnormality of the sensory perception of sound NOT_TRANSLATED -en nl HP:0033132 rdfs:label Renal cortical hyperechogenicity Renal cortical hyperechogenicity NOT_TRANSLATED -en nl HP:0033132 IAO:0000115 Increased echogenecity of the kidney cortex Increased echogenecity of the kidney cortex NOT_TRANSLATED -en nl HP:0000365 rdfs:label Hearing impairment Slechthorendheid CANDIDATE -en nl HP:0000365 IAO:0000115 A decreased magnitude of the sensory perception of sound A decreased magnitude of the sensory perception of sound NOT_TRANSLATED -en nl HP:0033133 rdfs:label Renal cortical hypoechogeneity Renal cortical hypoechogeneity NOT_TRANSLATED -en nl HP:0000366 rdfs:label Abnormality of the nose Afwijking van de neus CANDIDATE -en nl HP:0000366 IAO:0000115 An abnormality of the nose An abnormality of the nose NOT_TRANSLATED -en nl HP:0033134 rdfs:label Abdominal adhesions Abdominal adhesions NOT_TRANSLATED -en nl HP:0033134 IAO:0000115 Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane) Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane) NOT_TRANSLATED -en nl HP:0033135 rdfs:label Hepatic infarction Hepatic infarction NOT_TRANSLATED -en nl HP:0033135 IAO:0000115 Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography NOT_TRANSLATED -en nl HP:0000368 rdfs:label Low-set, posteriorly rotated ears Laag ingeplante, naar achteren gedraaide oren CANDIDATE -en nl HP:0000368 IAO:0000115 Ears that are low-set and posteriorly rotated Ears that are low-set and posteriorly rotated NOT_TRANSLATED -en nl HP:0033136 rdfs:label Lymph node abscess Lymph node abscess NOT_TRANSLATED -en nl HP:0033136 IAO:0000115 An inflammed lymph node that is filled with pus An inflammed lymph node that is filled with pus NOT_TRANSLATED -en nl HP:0000369 rdfs:label Low-set ears Laag ingeplante oren CANDIDATE -en nl HP:0000369 IAO:0000115 Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear NOT_TRANSLATED -en nl HP:0033137 rdfs:label Abnormal pulmonary alveolar system morphology Abnormal pulmonary alveolar system morphology NOT_TRANSLATED -en nl HP:0033137 IAO:0000115 A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli NOT_TRANSLATED -en nl HP:0000370 rdfs:label Abnormality of the middle ear Afwijking van het middenoor CANDIDATE -en nl HP:0000370 IAO:0000115 An abnormality of the middle ear An abnormality of the middle ear NOT_TRANSLATED -en nl HP:0033138 rdfs:label Right atrial thrombus Right atrial thrombus NOT_TRANSLATED -en nl HP:0033138 IAO:0000115 A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart NOT_TRANSLATED -en nl HP:0000371 rdfs:label Acute otitis media Acute otitis media CANDIDATE -en nl HP:0000371 IAO:0000115 Acute otitis media is a short and generally painful infection of the middle ear Acute otitis media is a short and generally painful infection of the middle ear NOT_TRANSLATED -en nl HP:0033139 rdfs:label Elevated circulating uracil concentration Elevated circulating uracil concentration NOT_TRANSLATED -en nl HP:0033139 IAO:0000115 Concentration of uracil in the blood circulation is above the normal range Concentration of uracil in the blood circulation is above the normal range NOT_TRANSLATED -en nl HP:0000372 rdfs:label Abnormality of the auditory canal Afwijking van de gehoorgang CANDIDATE -en nl HP:0000372 IAO:0000115 An abnormality of the External acoustic tube (also known as the auditory canal) An abnormality of the External acoustic tube (also known as the auditory canal) NOT_TRANSLATED -en nl HP:0033140 rdfs:label Blake's pouch cyst Blake's pouch cyst NOT_TRANSLATED -en nl HP:0033140 IAO:0000115 The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna NOT_TRANSLATED -en nl HP:0033141 rdfs:label Severe SARS-CoV-2 infection Severe SARS-CoV-2 infection NOT_TRANSLATED -en nl HP:0033141 IAO:0000115 Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation NOT_TRANSLATED -en nl HP:0033142 rdfs:label Long nasal bridge Long nasal bridge NOT_TRANSLATED -en nl HP:0033142 IAO:0000115 Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose NOT_TRANSLATED -en nl HP:0000375 rdfs:label Abnormal cochlea morphology Afwijking van het cochlea CANDIDATE -en nl HP:0000375 IAO:0000115 An abnormality of the cochlea An abnormality of the cochlea NOT_TRANSLATED -en nl HP:0033143 rdfs:label Jejunitis Jejunitis NOT_TRANSLATED -en nl HP:0033143 IAO:0000115 Inflammation of the lining of the middle section of the small intestine Inflammation of the lining of the middle section of the small intestine NOT_TRANSLATED -en nl HP:0000376 rdfs:label Incomplete partition of the cochlea type II Onvolledige partitie van het slakkenhuis type II CANDIDATE -en nl HP:0000376 IAO:0000115 With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation NOT_TRANSLATED -en nl HP:0033144 rdfs:label Abnormal circulating ceruloplasmin concentration Abnormal circulating ceruloplasmin concentration NOT_TRANSLATED -en nl HP:0033144 IAO:0000115 Any deviation of the concentration of ceruloplasmin in the blood from the normal range Any deviation of the concentration of ceruloplasmin in the blood from the normal range NOT_TRANSLATED -en nl HP:0000377 rdfs:label Abnormal pinna morphology Afwijking van de pinna CANDIDATE -en nl HP:0000377 IAO:0000115 An abnormality of the pinna, which is also referred to as the auricle or external ear An abnormality of the pinna, which is also referred to as the auricle or external ear NOT_TRANSLATED -en nl HP:0033145 rdfs:label Increased circulating ceruloplasmin concentration Increased circulating ceruloplasmin concentration NOT_TRANSLATED -en nl HP:0033145 IAO:0000115 Elevated concentration of ceruloplasmin in the blood circulation Elevated concentration of ceruloplasmin in the blood circulation NOT_TRANSLATED -en nl HP:0000378 rdfs:label Cupped ear Hol oor CANDIDATE -en nl HP:0000378 IAO:0000115 Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura) Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura) NOT_TRANSLATED -en nl HP:0033146 rdfs:label Elevated circulating methylsuccinic acid concentration Elevated circulating methylsuccinic acid concentration NOT_TRANSLATED -en nl HP:0033146 IAO:0000115 Increased concentration of methylsuccinic acid in the blood circulation Increased concentration of methylsuccinic acid in the blood circulation NOT_TRANSLATED -en nl HP:0033147 rdfs:label Abnormal circulating short-chain fatty-acid concentration Abnormal circulating short-chain fatty-acid concentration NOT_TRANSLATED -en nl HP:0033147 IAO:0000115 Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation NOT_TRANSLATED -en nl HP:0033148 rdfs:label Increased circulating isovaleric acid concentration Increased circulating isovaleric acid concentration NOT_TRANSLATED -en nl HP:0033148 IAO:0000115 Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration NOT_TRANSLATED -en nl HP:0000381 rdfs:label Stapes ankylosis Ankylose van de stijgbeugel CANDIDATE -en nl HP:0000381 IAO:0000115 Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles) Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles) NOT_TRANSLATED -en nl HP:0033149 rdfs:label Intrahepatic bile duct dilatation Intrahepatic bile duct dilatation NOT_TRANSLATED -en nl HP:0033149 IAO:0000115 Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) NOT_TRANSLATED -en nl HP:0033150 rdfs:label Anorectal abscess Anorectal abscess NOT_TRANSLATED -en nl HP:0033150 IAO:0000115 An abscess located at the junction of the anal canal and the rectum An abscess located at the junction of the anal canal and the rectum NOT_TRANSLATED -en nl HP:0000383 rdfs:label Abnormal periauricular region morphology Afwijking van periauriculaire regio CANDIDATE -en nl HP:0033151 rdfs:label Abnormal pharynx morphology Abnormal pharynx morphology NOT_TRANSLATED -en nl HP:0033151 IAO:0000115 A structural anomaly of the pharynx A structural anomaly of the pharynx NOT_TRANSLATED -en nl HP:0000384 rdfs:label Preauricular skin tag Preauriculaire fibroom CANDIDATE -en nl HP:0000384 IAO:0000115 A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear) A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear) NOT_TRANSLATED -en nl HP:0033152 rdfs:label Abnormal pharynx physiology Abnormal pharynx physiology NOT_TRANSLATED -en nl HP:0033152 IAO:0000115 A functional anomaly of the pharynx A functional anomaly of the pharynx NOT_TRANSLATED -en nl HP:0000385 rdfs:label Small earlobe Kleine oorlel CANDIDATE -en nl HP:0000385 IAO:0000115 Reduced volume of the earlobe Reduced volume of the earlobe NOT_TRANSLATED -en nl HP:0033153 rdfs:label Elevated circulating dodecenoylcarnitine concentration Elevated circulating dodecenoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033153 IAO:0000115 An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation NOT_TRANSLATED -en nl HP:0033154 rdfs:label Elevated circulating deoxypyridinoline concentration Elevated circulating deoxypyridinoline concentration NOT_TRANSLATED -en nl HP:0033154 IAO:0000115 An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation NOT_TRANSLATED -en nl HP:0000387 rdfs:label Absent earlobe Afwezige oorlel CANDIDATE -en nl HP:0000387 IAO:0000115 Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura NOT_TRANSLATED -en nl HP:0033155 rdfs:label Elevated circulating L-alloisoleucine concentration Elevated circulating L-alloisoleucine concentration NOT_TRANSLATED -en nl HP:0033155 IAO:0000115 Abnormally increased concentration of L-alloisoleucine in the blood circulation Abnormally increased concentration of L-alloisoleucine in the blood circulation NOT_TRANSLATED -en nl HP:0000388 rdfs:label Otitis media Otitis media CANDIDATE -en nl HP:0000388 IAO:0000115 Inflammation or infection of the middle ear Inflammation or infection of the middle ear NOT_TRANSLATED -en nl HP:0033156 rdfs:label Elevated urine L-alloisoleucine level Elevated urine L-alloisoleucine level NOT_TRANSLATED -en nl HP:0033156 IAO:0000115 Abnormally increased level of L-alloisoleucine in the urine Abnormally increased level of L-alloisoleucine in the urine NOT_TRANSLATED -en nl HP:0000389 rdfs:label Chronic otitis media Chronische otitis media CANDIDATE -en nl HP:0000389 IAO:0000115 Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear NOT_TRANSLATED -en nl HP:0033157 rdfs:label Elevated circulating 3-methylhistidine concentration Elevated circulating 3-methylhistidine concentration NOT_TRANSLATED -en nl HP:0033157 IAO:0000115 Abnormal increase of the concentration of 3-methylhistidine in the blood circulation Abnormal increase of the concentration of 3-methylhistidine in the blood circulation NOT_TRANSLATED -en nl HP:0033158 rdfs:label Reduced respiratory ciliary beating frequency Reduced respiratory ciliary beating frequency NOT_TRANSLATED -en nl HP:0033158 IAO:0000115 An abnormal reduction in the number of beats per unit time of the respiratory cilia An abnormal reduction in the number of beats per unit time of the respiratory cilia NOT_TRANSLATED -en nl HP:0000391 rdfs:label Thickened helices Verdikte helices CANDIDATE -en nl HP:0000391 IAO:0000115 Increased thickness of the helix of the ear Increased thickness of the helix of the ear NOT_TRANSLATED -en nl HP:0033159 rdfs:label Reduced urinary inosine level Reduced urinary inosine level NOT_TRANSLATED -en nl HP:0033159 IAO:0000115 Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond NOT_TRANSLATED -en nl HP:0033160 rdfs:label Decreased urinary guanosine level Decreased urinary guanosine level NOT_TRANSLATED -en nl HP:0033160 IAO:0000115 Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond NOT_TRANSLATED -en nl HP:0033161 rdfs:label Abnormal urinary purine level Abnormal urinary purine level NOT_TRANSLATED -en nl HP:0033161 IAO:0000115 Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines NOT_TRANSLATED -en nl HP:0000394 rdfs:label Lop ear Hangoor CANDIDATE -en nl HP:0000394 IAO:0000115 Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha NOT_TRANSLATED -en nl HP:0033162 rdfs:label Abnormal urinary pyrimidine level Abnormal urinary pyrimidine level NOT_TRANSLATED -en nl HP:0033162 IAO:0000115 Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines NOT_TRANSLATED -en nl HP:0000395 rdfs:label Prominent antihelix Prominente antihelix CANDIDATE -en nl HP:0000395 IAO:0000115 The presence of an abnormally prominent antihelix The presence of an abnormally prominent antihelix NOT_TRANSLATED -en nl HP:0033163 rdfs:label Small intestinal bacterial overgrowth Small intestinal bacterial overgrowth NOT_TRANSLATED -en nl HP:0033163 IAO:0000115 An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml NOT_TRANSLATED -en nl HP:0000396 rdfs:label Overfolded helix Overgevouwen helix CANDIDATE -en nl HP:0000396 IAO:0000115 A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear NOT_TRANSLATED -en nl HP:0033164 rdfs:label Focal active colitis Focal active colitis NOT_TRANSLATED -en nl HP:0033164 IAO:0000115 Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation NOT_TRANSLATED -en nl HP:0033165 rdfs:label Necrotizing enterocolitis Necrotizing enterocolitis NOT_TRANSLATED -en nl HP:0033165 IAO:0000115 Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine NOT_TRANSLATED -en nl HP:0033166 rdfs:label Recurrent viral upper respiratory tract infections Recurrent viral upper respiratory tract infections NOT_TRANSLATED -en nl HP:0033166 IAO:0000115 An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis) An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis) NOT_TRANSLATED -en nl HP:0000399 rdfs:label Prelingual sensorineural hearing impairment Prelinguale perceptieve slechthorendheid CANDIDATE -en nl HP:0000399 IAO:0000115 A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech NOT_TRANSLATED -en nl HP:0033167 rdfs:label Neutrophilic urticarial dermatosis Neutrophilic urticarial dermatosis NOT_TRANSLATED -en nl HP:0033167 IAO:0000115 A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present NOT_TRANSLATED -en nl HP:0000400 rdfs:label Macrotia Macrotia CANDIDATE -en nl HP:0000400 IAO:0000115 Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective) Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective) NOT_TRANSLATED -en nl HP:0033168 rdfs:label Reduced mevalonate kinase activity Reduced mevalonate kinase activity NOT_TRANSLATED -en nl HP:0033168 IAO:0000115 Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids NOT_TRANSLATED -en nl HP:0033169 rdfs:label Reduced total lung capacity Reduced total lung capacity NOT_TRANSLATED -en nl HP:0033169 IAO:0000115 Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration NOT_TRANSLATED -en nl HP:0000402 rdfs:label Stenosis of the external auditory canal Stenose van het externe auditieve kanaal CANDIDATE -en nl HP:0000402 IAO:0000115 An abnormal narrowing of the external auditory canal An abnormal narrowing of the external auditory canal NOT_TRANSLATED -en nl HP:0033170 rdfs:label Abnormal skinfold thickness measurement Abnormal skinfold thickness measurement NOT_TRANSLATED -en nl HP:0033170 IAO:0000115 Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers NOT_TRANSLATED -en nl HP:0000403 rdfs:label Recurrent otitis media Terugkerende otitis media CANDIDATE -en nl HP:0000403 IAO:0000115 Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media NOT_TRANSLATED -en nl HP:0033171 rdfs:label Abnormal triceps skinfold thickness Abnormal triceps skinfold thickness NOT_TRANSLATED -en nl HP:0033171 IAO:0000115 Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers NOT_TRANSLATED -en nl HP:0033172 rdfs:label Increased triceps skinfold thickness Increased triceps skinfold thickness NOT_TRANSLATED -en nl HP:0033172 IAO:0000115 Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased NOT_TRANSLATED -en nl HP:0000405 rdfs:label Conductive hearing impairment Geleidend gehoorverlies CANDIDATE -en nl HP:0000405 IAO:0000115 An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound NOT_TRANSLATED -en nl HP:0033173 rdfs:label Milky appearance of bronchoalveolar lavage fluid Milky appearance of bronchoalveolar lavage fluid NOT_TRANSLATED -en nl HP:0033173 IAO:0000115 Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space NOT_TRANSLATED -en nl HP:0033174 rdfs:label Bloody bronchoalveolar lavage fluid Bloody bronchoalveolar lavage fluid NOT_TRANSLATED -en nl HP:0033174 IAO:0000115 Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding NOT_TRANSLATED -en nl HP:0000407 rdfs:label Sensorineural hearing impairment Perceptieve slechthorendheid CANDIDATE -en nl HP:0000407 IAO:0000115 A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve NOT_TRANSLATED -en nl HP:0033175 rdfs:label Elevated circulating 5-oxoproline concentration Elevated circulating 5-oxoproline concentration NOT_TRANSLATED -en nl HP:0033175 IAO:0000115 Concentration of L-pyroglutamic acid in the blood is above the normal range Concentration of L-pyroglutamic acid in the blood is above the normal range NOT_TRANSLATED -en nl HP:0000408 rdfs:label Progressive sensorineural hearing impairment Progressieve perceptieve slechthorendheid CANDIDATE -en nl HP:0000408 IAO:0000115 A progressive form of sensorineural hearing impairment A progressive form of sensorineural hearing impairment NOT_TRANSLATED -en nl HP:0033176 rdfs:label Submandibular lymph node enlargement Submandibular lymph node enlargement NOT_TRANSLATED -en nl HP:0033176 IAO:0000115 Increased size of the lymph nodes that are located beneath the mandible (lower jaw) Increased size of the lymph nodes that are located beneath the mandible (lower jaw) NOT_TRANSLATED -en nl HP:0033177 rdfs:label Elevated circulating suberic acid concentration Elevated circulating suberic acid concentration NOT_TRANSLATED -en nl HP:0033177 IAO:0000115 An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane NOT_TRANSLATED -en nl HP:0000410 rdfs:label Mixed hearing impairment Gemengde slechthorendheid CANDIDATE -en nl HP:0000410 IAO:0000115 A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment NOT_TRANSLATED -en nl HP:0033178 rdfs:label Increased circulating interleukin 8 concentration Increased circulating interleukin 8 concentration NOT_TRANSLATED -en nl HP:0033178 IAO:0000115 An increased concentration of interleukin-8 in the circulation An increased concentration of interleukin-8 in the circulation NOT_TRANSLATED -en nl HP:0000411 rdfs:label Protruding ear Uitstekend oor CANDIDATE -en nl HP:0000411 IAO:0000115 Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective) Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective) NOT_TRANSLATED -en nl HP:0033179 rdfs:label Elevated circulating aconitic acid concentration Elevated circulating aconitic acid concentration NOT_TRANSLATED -en nl HP:0033179 IAO:0000115 An increased concentration of aconitic acid in the blood circulation An increased concentration of aconitic acid in the blood circulation NOT_TRANSLATED -en nl HP:0033180 rdfs:label Torsion of appendix of testis Torsion of appendix of testis NOT_TRANSLATED -en nl HP:0033180 IAO:0000115 The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention NOT_TRANSLATED -en nl HP:0000413 rdfs:label Atresia of the external auditory canal Atresie van het externe auditieve kanaal CANDIDATE -en nl HP:0000413 IAO:0000115 Absence or failure to form of the external auditory canal Absence or failure to form of the external auditory canal NOT_TRANSLATED -en nl HP:0033181 rdfs:label Spinal epidural abscess Spinal epidural abscess NOT_TRANSLATED -en nl HP:0033181 IAO:0000115 Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA NOT_TRANSLATED -en nl HP:0000414 rdfs:label Bulbous nose Bolvormige neus CANDIDATE -en nl HP:0000414 IAO:0000115 Increased volume and globular shape of the anteroinferior aspect of the nose Increased volume and globular shape of the anteroinferior aspect of the nose NOT_TRANSLATED -en nl HP:0033182 rdfs:label Increased circulating cathepsin D level Increased circulating cathepsin D level NOT_TRANSLATED -en nl HP:0033182 IAO:0000115 An increase in concentration of cathepsin D in the blood circulation An increase in concentration of cathepsin D in the blood circulation NOT_TRANSLATED -en nl HP:0000415 rdfs:label Abnormality of the choanae Afwijking van de choanae CANDIDATE -en nl HP:0000415 IAO:0000115 Abnormality of the choanae (the posterior nasal apertures) Abnormality of the choanae (the posterior nasal apertures) NOT_TRANSLATED -en nl HP:0033183 rdfs:label Bilobed right lung Bilobed right lung NOT_TRANSLATED -en nl HP:0033183 IAO:0000115 A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung NOT_TRANSLATED -en nl HP:0033184 rdfs:label Triggered by infection Triggered by infection NOT_TRANSLATED -en nl HP:0000417 rdfs:label Slender nose Slanke neus CANDIDATE -en nl HP:0033185 rdfs:label Triggered by EBV infection Triggered by EBV infection NOT_TRANSLATED -en nl HP:0033185 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus NOT_TRANSLATED -en nl HP:0000418 rdfs:label Narrow nasal ridge Smalle neusrug CANDIDATE -en nl HP:0000418 IAO:0000115 Decreased width of the nasal ridge Decreased width of the nasal ridge NOT_TRANSLATED -en nl HP:0033186 rdfs:label Misalignment of the pulmonary veins Misalignment of the pulmonary veins NOT_TRANSLATED -en nl HP:0033186 IAO:0000115 The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins NOT_TRANSLATED -en nl HP:0000419 rdfs:label Abnormal nasal septum morphology Afwijking van het neustussenschot CANDIDATE -en nl HP:0000419 IAO:0000115 An abnormality of the nasal septum An abnormality of the nasal septum NOT_TRANSLATED -en nl HP:0033187 rdfs:label Hyperimidodipeptiduria Hyperimidodipeptiduria NOT_TRANSLATED -en nl HP:0033187 IAO:0000115 Elevated levels of proline-containing dipeptides in urine Elevated levels of proline-containing dipeptides in urine NOT_TRANSLATED -en nl HP:0000420 rdfs:label Short nasal septum Kort neustussenschot CANDIDATE -en nl HP:0000420 IAO:0000115 Reduced superior to inferior length of the nasal septum Reduced superior to inferior length of the nasal septum NOT_TRANSLATED -en nl HP:0033188 rdfs:label Cystic acne Cystic acne NOT_TRANSLATED -en nl HP:0033188 IAO:0000115 A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum NOT_TRANSLATED -en nl HP:0000421 rdfs:label Epistaxis Epistaxis (bloedneus) CANDIDATE -en nl HP:0000421 IAO:0000115 Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose NOT_TRANSLATED -en nl HP:0033189 rdfs:label Radiculomegaly Radiculomegaly NOT_TRANSLATED -en nl HP:0033189 IAO:0000115 Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length NOT_TRANSLATED -en nl HP:0000422 rdfs:label Abnormal nasal bridge morphology Afwijking van de neusbrug CANDIDATE -en nl HP:0000422 IAO:0000115 Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi NOT_TRANSLATED -en nl HP:0033190 rdfs:label Hypertrichotic hyperpigmented patch Hypertrichotic hyperpigmented patch NOT_TRANSLATED -en nl HP:0033190 IAO:0000115 A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth NOT_TRANSLATED -en nl HP:0033191 rdfs:label Increased circulating selenium concentration Increased circulating selenium concentration NOT_TRANSLATED -en nl HP:0033191 IAO:0000115 An increased concentration of selenium in the blood circulation An increased concentration of selenium in the blood circulation NOT_TRANSLATED -en nl HP:0033192 rdfs:label Decreased circulating selenium concentration Decreased circulating selenium concentration NOT_TRANSLATED -en nl HP:0033192 IAO:0000115 An abnormally reduced concentration of selenium in the blood circulation An abnormally reduced concentration of selenium in the blood circulation NOT_TRANSLATED -en nl HP:0033193 rdfs:label Ballooning hepatocyte degeneration Ballooning hepatocyte degeneration NOT_TRANSLATED -en nl HP:0033193 IAO:0000115 Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62 Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62 NOT_TRANSLATED -en nl HP:0000426 rdfs:label Prominent nasal bridge Prominente neusbrug CANDIDATE -en nl HP:0000426 IAO:0000115 Anterior positioning of the nasal root in comparison to the usual positioning for age Anterior positioning of the nasal root in comparison to the usual positioning for age NOT_TRANSLATED -en nl HP:0033194 rdfs:label Perioral erythema Perioral erythema NOT_TRANSLATED -en nl HP:0033194 IAO:0000115 Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth NOT_TRANSLATED -en nl HP:0033195 rdfs:label Perianal erythema Perianal erythema NOT_TRANSLATED -en nl HP:0033195 IAO:0000115 Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus NOT_TRANSLATED -en nl HP:0033196 rdfs:label Portal inflammation Portal inflammation NOT_TRANSLATED -en nl HP:0033196 IAO:0000115 Infiltration of portal fields by inflammatory cells Infiltration of portal fields by inflammatory cells NOT_TRANSLATED -en nl HP:0000429 rdfs:label Abnormal morphology of the nasal alae Afwijking van de neusvleugels CANDIDATE -en nl HP:0000429 IAO:0000115 An abnormality of the Ala of nose An abnormality of the Ala of nose NOT_TRANSLATED -en nl HP:0033197 rdfs:label Hepatic lobular inflammation Hepatic lobular inflammation NOT_TRANSLATED -en nl HP:0033197 IAO:0000115 Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes) Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes) NOT_TRANSLATED -en nl HP:0000430 rdfs:label Underdeveloped nasal alae Onderontwikkelde neusvleugels CANDIDATE -en nl HP:0000430 IAO:0000115 Thinned, deficient, or excessively arched ala nasi Thinned, deficient, or excessively arched ala nasi NOT_TRANSLATED -en nl HP:0033198 rdfs:label Triggered by viral infection Triggered by viral infection NOT_TRANSLATED -en nl HP:0033198 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by infection by a virus Applies to a sign or symptom that is provoked or brought about by infection by a virus NOT_TRANSLATED -en nl HP:0000431 rdfs:label Wide nasal bridge Brede neusbrug CANDIDATE -en nl HP:0000431 IAO:0000115 Increased breadth of the nasal bridge (and with it, the nasal root) Increased breadth of the nasal bridge (and with it, the nasal root) NOT_TRANSLATED -en nl HP:0033199 rdfs:label Increased circulating interleukin 10 concentration Increased circulating interleukin 10 concentration NOT_TRANSLATED -en nl HP:0033199 IAO:0000115 An elevation of the concentration of interleukin 10 in the blood circulation An elevation of the concentration of interleukin 10 in the blood circulation NOT_TRANSLATED -en nl HP:0033200 rdfs:label Triceps hyporeflexia Triceps hyporeflexia NOT_TRANSLATED -en nl HP:0033200 IAO:0000115 Reduced intensity of the triceps tendon reflex Reduced intensity of the triceps tendon reflex NOT_TRANSLATED -en nl HP:0000433 rdfs:label Abnormal nasal mucosa morphology Afwijking van het neusslijmvlies CANDIDATE -en nl HP:0033201 rdfs:label Biceps hyporeflexia Biceps hyporeflexia NOT_TRANSLATED -en nl HP:0033201 IAO:0000115 Reduced intensity of the biceps tendon reflex Reduced intensity of the biceps tendon reflex NOT_TRANSLATED -en nl HP:0000434 rdfs:label Nasal mucosa telangiectasia Telangiëctasie in het neusslijmvlies CANDIDATE -en nl HP:0000434 IAO:0000115 Telangiectasia of the nasal mucosa Telangiectasia of the nasal mucosa NOT_TRANSLATED -en nl HP:0033202 rdfs:label Brachioradialis hyporeflexia Brachioradialis hyporeflexia NOT_TRANSLATED -en nl HP:0033202 IAO:0000115 Reduced intensity of the brachioradialis tendon reflex Reduced intensity of the brachioradialis tendon reflex NOT_TRANSLATED -en nl HP:0033203 rdfs:label Brachioradialis hyperreflexia Brachioradialis hyperreflexia NOT_TRANSLATED -en nl HP:0033203 IAO:0000115 Increased intensity of the brachioradialis reflex Increased intensity of the brachioradialis reflex NOT_TRANSLATED -en nl HP:0000436 rdfs:label Abnormal nasal tip morphology Afwijking van de neuspunt CANDIDATE -en nl HP:0000436 IAO:0000115 An abnormality of the nasal tip An abnormality of the nasal tip NOT_TRANSLATED -en nl HP:0033204 rdfs:label Triceps hyperreflexia Triceps hyperreflexia NOT_TRANSLATED -en nl HP:0033204 IAO:0000115 Increased intensity of the triceps reflex Increased intensity of the triceps reflex NOT_TRANSLATED -en nl HP:0000437 rdfs:label Depressed nasal tip Platte neuspunt CANDIDATE -en nl HP:0000437 IAO:0000115 Decreased distance from the nasal tip to the nasal base Decreased distance from the nasal tip to the nasal base NOT_TRANSLATED -en nl HP:0033205 rdfs:label Biceps hyperreflexia Biceps hyperreflexia NOT_TRANSLATED -en nl HP:0033205 IAO:0000115 Increased intensity of the biceps reflex Increased intensity of the biceps reflex NOT_TRANSLATED -en nl HP:0033206 rdfs:label Hyperactive Achilles reflex Hyperactive Achilles reflex NOT_TRANSLATED -en nl HP:0033206 IAO:0000115 Increased intensity of the Achilles reflex Increased intensity of the Achilles reflex NOT_TRANSLATED -en nl HP:0033207 rdfs:label Increased proportion autoreactive unresponsive CD21-/low B cells Increased proportion autoreactive unresponsive CD21-/low B cells NOT_TRANSLATED -en nl HP:0033207 IAO:0000115 Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures NOT_TRANSLATED -en nl HP:0033208 rdfs:label Alveolar capillary dysplasia Alveolar capillary dysplasia NOT_TRANSLATED -en nl HP:0033208 IAO:0000115 A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis NOT_TRANSLATED -en nl HP:0033209 rdfs:label Acinar dysplasia Acinar dysplasia NOT_TRANSLATED -en nl HP:0033209 IAO:0000115 Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli NOT_TRANSLATED -en nl HP:0033210 rdfs:label Congenital alveolar dysplasia Congenital alveolar dysplasia NOT_TRANSLATED -en nl HP:0033210 IAO:0000115 Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries NOT_TRANSLATED -en nl HP:0033211 rdfs:label Decreased total iron binding capacity Decreased total iron binding capacity NOT_TRANSLATED -en nl HP:0033211 IAO:0000115 A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity NOT_TRANSLATED -en nl HP:0000444 rdfs:label Convex nasal ridge Bolle neusrug CANDIDATE -en nl HP:0000444 IAO:0000115 Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low NOT_TRANSLATED -en nl HP:0033212 rdfs:label Abnormal total iron binding capacity Abnormal total iron binding capacity NOT_TRANSLATED -en nl HP:0033212 IAO:0000115 Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added NOT_TRANSLATED -en nl HP:0000445 rdfs:label Wide nose Brede neus CANDIDATE -en nl HP:0000445 IAO:0000115 Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae NOT_TRANSLATED -en nl HP:0033213 rdfs:label Elevated urine suberic acid level Elevated urine suberic acid level NOT_TRANSLATED -en nl HP:0033213 IAO:0000115 An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane NOT_TRANSLATED -en nl HP:0000446 rdfs:label Narrow nasal bridge Smalle neusbrug CANDIDATE -en nl HP:0000446 IAO:0000115 Decreased width of the bony bridge of the nose Decreased width of the bony bridge of the nose NOT_TRANSLATED -en nl HP:0033214 rdfs:label Recurrent viral pneumonia Recurrent viral pneumonia NOT_TRANSLATED -en nl HP:0033214 IAO:0000115 Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias NOT_TRANSLATED -en nl HP:0000447 rdfs:label Pear-shaped nose Peervormige neus CANDIDATE -en nl HP:0033215 rdfs:label Obliterative abnormality of the renal glomerulus Obliterative abnormality of the renal glomerulus NOT_TRANSLATED -en nl HP:0000448 rdfs:label Prominent nose Prominente neus CANDIDATE -en nl HP:0000448 IAO:0000115 Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip NOT_TRANSLATED -en nl HP:0033216 rdfs:label Glomerular hyalinosis Glomerular hyalinosis NOT_TRANSLATED -en nl HP:0033216 IAO:0000115 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular NOT_TRANSLATED -en nl HP:0033217 rdfs:label Perihilar glomerular hyalinosis Perihilar glomerular hyalinosis NOT_TRANSLATED -en nl HP:0033217 IAO:0000115 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum NOT_TRANSLATED -en nl HP:0033218 rdfs:label Glomerular hyalinosis at the tubular pole Glomerular hyalinosis at the tubular pole NOT_TRANSLATED -en nl HP:0033218 IAO:0000115 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole NOT_TRANSLATED -en nl HP:0000451 rdfs:label Triangular nasal tip Driehoekige neuspunt CANDIDATE -en nl HP:0033219 rdfs:label Glomerular hyalinosis away from the vascular and tubular poles Glomerular hyalinosis away from the vascular and tubular poles NOT_TRANSLATED -en nl HP:0033219 IAO:0000115 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section NOT_TRANSLATED -en nl HP:0000452 rdfs:label Choanal stenosis Choanale stenose CANDIDATE -en nl HP:0000452 IAO:0000115 Abnormal narrowing of the choana (the posterior nasal aperture) Abnormal narrowing of the choana (the posterior nasal aperture) NOT_TRANSLATED -en nl HP:0033220 rdfs:label 2-ethylhydracylic aciduria 2-ethylhydracylic aciduria NOT_TRANSLATED -en nl HP:0033220 IAO:0000115 An increased concentration of 2-ethylhydracylic acid in the urine An increased concentration of 2-ethylhydracylic acid in the urine NOT_TRANSLATED -en nl HP:0000453 rdfs:label Choanal atresia Choanale atresie CANDIDATE -en nl HP:0000453 IAO:0000115 Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral NOT_TRANSLATED -en nl HP:0033221 rdfs:label Increased CD4:CD8 ratio Increased CD4:CD8 ratio NOT_TRANSLATED -en nl HP:0033221 IAO:0000115 An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells NOT_TRANSLATED -en nl HP:0000454 rdfs:label Flared nostrils Wijd uitlopende neusgaten CANDIDATE -en nl HP:0033222 rdfs:label Decreased CD4:CD8 ratio Decreased CD4:CD8 ratio NOT_TRANSLATED -en nl HP:0033222 IAO:0000115 An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells NOT_TRANSLATED -en nl HP:0000455 rdfs:label Broad nasal tip Brede neuspunt CANDIDATE -en nl HP:0000455 IAO:0000115 Increase in width of the nasal tip Increase in width of the nasal tip NOT_TRANSLATED -en nl HP:0033223 rdfs:label Abnormal glomerular parietal epithelial cell morphology Abnormal glomerular parietal epithelial cell morphology NOT_TRANSLATED -en nl HP:0033223 IAO:0000115 Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole NOT_TRANSLATED -en nl HP:0000456 rdfs:label Bifid nasal tip Gespleten neuspunt CANDIDATE -en nl HP:0000456 IAO:0000115 A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip NOT_TRANSLATED -en nl HP:0033224 rdfs:label Glomerular parietal epithelial cell hyperplasia Glomerular parietal epithelial cell hyperplasia NOT_TRANSLATED -en nl HP:0033224 IAO:0000115 Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering NOT_TRANSLATED -en nl HP:0000457 rdfs:label Depressed nasal ridge Platte neusrug CANDIDATE -en nl HP:0000457 IAO:0000115 Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge NOT_TRANSLATED -en nl HP:0033225 rdfs:label Glomerular parietal epithelial cell hypertrophy Glomerular parietal epithelial cell hypertrophy NOT_TRANSLATED -en nl HP:0033225 IAO:0000115 An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present NOT_TRANSLATED -en nl HP:0000458 rdfs:label Anosmia Anosmie CANDIDATE -en nl HP:0000458 IAO:0000115 An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell NOT_TRANSLATED -en nl HP:0033226 rdfs:label Bowman capsular hyaline drops Bowman capsular hyaline drops NOT_TRANSLATED -en nl HP:0033226 IAO:0000115 An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material NOT_TRANSLATED -en nl HP:0033227 rdfs:label Glomerular synechial adhesion Glomerular synechial adhesion NOT_TRANSLATED -en nl HP:0033227 IAO:0000115 An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis NOT_TRANSLATED -en nl HP:0000460 rdfs:label Narrow nose Smalle neus CANDIDATE -en nl HP:0000460 IAO:0000115 Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae NOT_TRANSLATED -en nl HP:0033228 rdfs:label Triceps areflexia Triceps areflexia NOT_TRANSLATED -en nl HP:0033228 IAO:0000115 Inability to elicit triceps tendon reflex Inability to elicit triceps tendon reflex NOT_TRANSLATED -en nl HP:0033229 rdfs:label Brachioradialis areflexia Brachioradialis areflexia NOT_TRANSLATED -en nl HP:0033229 IAO:0000115 Inability to elicit brachioradialis tendon reflex Inability to elicit brachioradialis tendon reflex NOT_TRANSLATED -en nl HP:0033230 rdfs:label Biceps areflexia Biceps areflexia NOT_TRANSLATED -en nl HP:0033230 IAO:0000115 Inability to elicit biceps tendon reflex Inability to elicit biceps tendon reflex NOT_TRANSLATED -en nl HP:0000463 rdfs:label Anteverted nares Opengewerkte neusgaten CANDIDATE -en nl HP:0000463 IAO:0000115 Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip) Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip) NOT_TRANSLATED -en nl HP:0033231 rdfs:label Abnormal glomerular mesangial cellularity Abnormal glomerular mesangial cellularity NOT_TRANSLATED -en nl HP:0033231 IAO:0000115 Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney NOT_TRANSLATED -en nl HP:0000464 rdfs:label Abnormality of the neck Afwijking van de nek CANDIDATE -en nl HP:0000464 IAO:0000115 An abnormality of the neck An abnormality of the neck NOT_TRANSLATED -en nl HP:0033232 rdfs:label Abnormal glomerular mesangial matrix morphology Abnormal glomerular mesangial matrix morphology NOT_TRANSLATED -en nl HP:0033232 IAO:0000115 Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix NOT_TRANSLATED -en nl HP:0000465 rdfs:label Webbed neck Vliesachtige huidplooien tussen nek en schouders CANDIDATE -en nl HP:0000465 IAO:0000115 Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline NOT_TRANSLATED -en nl HP:0033233 rdfs:label Paramesangial deposits Paramesangial deposits NOT_TRANSLATED -en nl HP:0033233 IAO:0000115 Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane NOT_TRANSLATED -en nl HP:0000466 rdfs:label Limited neck range of motion Beperkt bewegingsbereik van nek CANDIDATE -en nl HP:0033234 rdfs:label Mesangial hyaline deposition Mesangial hyaline deposition NOT_TRANSLATED -en nl HP:0033234 IAO:0000115 Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material NOT_TRANSLATED -en nl HP:0000467 rdfs:label Neck muscle weakness Nekspierzwakte CANDIDATE -en nl HP:0000467 IAO:0000115 Decreased strength of the neck musculature Decreased strength of the neck musculature NOT_TRANSLATED -en nl HP:0033235 rdfs:label Difficulty descending stairs Difficulty descending stairs NOT_TRANSLATED -en nl HP:0033235 IAO:0000115 Reduced ability to desscend stairs Reduced ability to desscend stairs NOT_TRANSLATED -en nl HP:0000468 rdfs:label Increased adipose tissue around the neck Toegenomen vetweefsel rond de nek CANDIDATE -en nl HP:0000468 IAO:0000115 An increased amount of subcutaneous fat tissue around the neck An increased amount of subcutaneous fat tissue around the neck NOT_TRANSLATED -en nl HP:0033236 rdfs:label Cognitive fatigue Cognitive fatigue NOT_TRANSLATED -en nl HP:0033236 IAO:0000115 A failure to sustain attention that requires self-motivation to optimize performance A failure to sustain attention that requires self-motivation to optimize performance NOT_TRANSLATED -en nl HP:0033237 rdfs:label Visceral epithelial cell detachment Visceral epithelial cell detachment NOT_TRANSLATED -en nl HP:0033237 IAO:0000115 Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo' Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo' NOT_TRANSLATED -en nl HP:0000470 rdfs:label Short neck Korte nek CANDIDATE -en nl HP:0000470 IAO:0000115 Diminished length of the neck Diminished length of the neck NOT_TRANSLATED -en nl HP:0033238 rdfs:label Podocyte microvillous transformation Podocyte microvillous transformation NOT_TRANSLATED -en nl HP:0033238 IAO:0000115 Cytoplasmic projections into the urinary space from the luminal side of the podocyte Cytoplasmic projections into the urinary space from the luminal side of the podocyte NOT_TRANSLATED -en nl HP:0000471 rdfs:label Gastrointestinal angiodysplasia Gastro-intestinale angiodysplasie CANDIDATE -en nl HP:0000471 IAO:0000115 Dysplasia affecting the vasculature of the gastrointestinal tract Dysplasia affecting the vasculature of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0033239 rdfs:label Visceral epithelial cell capping Visceral epithelial cell capping NOT_TRANSLATED -en nl HP:0033239 IAO:0000115 Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus NOT_TRANSLATED -en nl HP:0000472 rdfs:label Long neck Lange nek CANDIDATE -en nl HP:0000472 IAO:0000115 Increased inferior-superior length of the neck Increased inferior-superior length of the neck NOT_TRANSLATED -en nl HP:0033240 rdfs:label Elevated RV/TLC ratio Elevated RV/TLC ratio NOT_TRANSLATED -en nl HP:0033240 IAO:0000115 An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation NOT_TRANSLATED -en nl HP:0000473 rdfs:label Torticollis Torticollis CANDIDATE -en nl HP:0000473 IAO:0000115 Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head NOT_TRANSLATED -en nl HP:0033241 rdfs:label Polyalveolar lobe Polyalveolar lobe NOT_TRANSLATED -en nl HP:0033241 IAO:0000115 An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold NOT_TRANSLATED -en nl HP:0000474 rdfs:label Thickened nuchal skin fold Verdikte nuchale huidplooi CANDIDATE -en nl HP:0000474 IAO:0000115 A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome NOT_TRANSLATED -en nl HP:0033242 rdfs:label Horseshoe lung Horseshoe lung NOT_TRANSLATED -en nl HP:0033242 IAO:0000115 A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac NOT_TRANSLATED -en nl HP:0000475 rdfs:label Broad neck Brede nek CANDIDATE -en nl HP:0000475 IAO:0000115 Increased side-to-side width of the neck Increased side-to-side width of the neck NOT_TRANSLATED -en nl HP:0033243 rdfs:label Pulmonary necrosis Pulmonary necrosis NOT_TRANSLATED -en nl HP:0033243 IAO:0000115 Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components NOT_TRANSLATED -en nl HP:0000476 rdfs:label Cystic hygroma Cystische hygroma CANDIDATE -en nl HP:0000476 IAO:0000115 A cystic lymphatic lesion of the neck A cystic lymphatic lesion of the neck NOT_TRANSLATED -en nl HP:0033244 rdfs:label Glycogen accumulation in pulmonary interstitial cells Glycogen accumulation in pulmonary interstitial cells NOT_TRANSLATED -en nl HP:0033244 IAO:0000115 Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells NOT_TRANSLATED -en nl HP:0033245 rdfs:label Abnormal alveolar type II pneumocyte morphology Abnormal alveolar type II pneumocyte morphology NOT_TRANSLATED -en nl HP:0033245 IAO:0000115 Any structural abnormality of alveolar type 2 (ATII) cells Any structural abnormality of alveolar type 2 (ATII) cells NOT_TRANSLATED -en nl HP:0000478 rdfs:label Abnormality of the eye Afwijking van het oog CANDIDATE -en nl HP:0000478 IAO:0000115 Any abnormality of the eye, including location, spacing, and intraocular abnormalities Any abnormality of the eye, including location, spacing, and intraocular abnormalities NOT_TRANSLATED -en nl HP:0033246 rdfs:label Type II pneumocyte hypertrophy Type II pneumocyte hypertrophy NOT_TRANSLATED -en nl HP:0033246 IAO:0000115 Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin NOT_TRANSLATED -en nl HP:0000479 rdfs:label Abnormal retinal morphology Afwijking van de retina CANDIDATE -en nl HP:0000479 IAO:0000115 A structural abnormality of the retina A structural abnormality of the retina NOT_TRANSLATED -en nl HP:0033247 rdfs:label Pulmonary amyloidosis Pulmonary amyloidosis NOT_TRANSLATED -en nl HP:0033247 IAO:0000115 Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding NOT_TRANSLATED -en nl HP:0000480 rdfs:label Retinal coloboma Retinaal coloboom CANDIDATE -en nl HP:0000480 IAO:0000115 A notch or cleft of the retina A notch or cleft of the retina NOT_TRANSLATED -en nl HP:0033248 rdfs:label Multiple pulmonary interstitial hyalinized nodules Multiple pulmonary interstitial hyalinized nodules NOT_TRANSLATED -en nl HP:0033248 IAO:0000115 Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin NOT_TRANSLATED -en nl HP:0000481 rdfs:label Abnormal cornea morphology Afwijking van de cornea CANDIDATE -en nl HP:0000481 IAO:0000115 Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber NOT_TRANSLATED -en nl HP:0033249 rdfs:label Focal substantia nigra T2 hyperintensity Focal substantia nigra T2 hyperintensity NOT_TRANSLATED -en nl HP:0033249 IAO:0000115 Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging NOT_TRANSLATED -en nl HP:0000482 rdfs:label Microcornea Microcornea CANDIDATE -en nl HP:0000482 IAO:0000115 A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood NOT_TRANSLATED -en nl HP:0033250 rdfs:label Nailfold capillary tortuosity Nailfold capillary tortuosity NOT_TRANSLATED -en nl HP:0033250 IAO:0000115 An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels NOT_TRANSLATED -en nl HP:0000483 rdfs:label Astigmatism Astigmatisme CANDIDATE -en nl HP:0000483 IAO:0000115 A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea NOT_TRANSLATED -en nl HP:0033251 rdfs:label Elevated residual volume Elevated residual volume NOT_TRANSLATED -en nl HP:0033251 IAO:0000115 Increase in the amount of air remaining in a person's lungs after full exhalation Increase in the amount of air remaining in a person's lungs after full exhalation NOT_TRANSLATED -en nl HP:0000484 rdfs:label Hyperopic astigmatism Hyperopisch astigmatisme CANDIDATE -en nl HP:0000484 IAO:0000115 A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error NOT_TRANSLATED -en nl HP:0033252 rdfs:label Palmar hyperlinearity Palmar hyperlinearity NOT_TRANSLATED -en nl HP:0033252 IAO:0000115 Exaggerated skin markings (dermatoglyphics) on the palms of the hand Exaggerated skin markings (dermatoglyphics) on the palms of the hand NOT_TRANSLATED -en nl HP:0000485 rdfs:label Megalocornea Megalocornea CANDIDATE -en nl HP:0000485 IAO:0000115 An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age NOT_TRANSLATED -en nl HP:0033253 rdfs:label Reduced circulating interferon gamma concentration Reduced circulating interferon gamma concentration NOT_TRANSLATED -en nl HP:0033253 IAO:0000115 A reduction in the concentration of interferon gamma measured in the blood circulation A reduction in the concentration of interferon gamma measured in the blood circulation NOT_TRANSLATED -en nl HP:0000486 rdfs:label Strabismus Strabismus CANDIDATE -en nl HP:0000486 IAO:0000115 A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error NOT_TRANSLATED -en nl HP:0033254 rdfs:label Anorectal stricture Anorectal stricture NOT_TRANSLATED -en nl HP:0033254 IAO:0000115 Narrowing of the anorectum associated with inflammation or scar tissue Narrowing of the anorectum associated with inflammation or scar tissue NOT_TRANSLATED -en nl HP:0033255 rdfs:label Congenital lobar overinflation Congenital lobar overinflation NOT_TRANSLATED -en nl HP:0033255 IAO:0000115 A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes NOT_TRANSLATED -en nl HP:0000488 rdfs:label Retinopathy Retinopathie CANDIDATE -en nl HP:0000488 IAO:0000115 Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality NOT_TRANSLATED -en nl HP:0033256 rdfs:label Pancolitis Pancolitis NOT_TRANSLATED -en nl HP:0033256 IAO:0000115 Inflammation of the entire colon Inflammation of the entire colon NOT_TRANSLATED -en nl HP:0033257 rdfs:label Delayed ability to walk with support Delayed ability to walk with support NOT_TRANSLATED -en nl HP:0033257 IAO:0000115 A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage NOT_TRANSLATED -en nl HP:0000490 rdfs:label Deeply set eye Diep liggende ogen CANDIDATE -en nl HP:0000490 IAO:0000115 An eye that is more deeply recessed into the plane of the face than is typical An eye that is more deeply recessed into the plane of the face than is typical NOT_TRANSLATED -en nl HP:0033258 rdfs:label Sudden unexpected death in epilepsy Sudden unexpected death in epilepsy NOT_TRANSLATED -en nl HP:0033258 IAO:0000115 Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death NOT_TRANSLATED -en nl HP:0000491 rdfs:label Keratitis Keratitis CANDIDATE -en nl HP:0000491 IAO:0000115 Inflammation of the cornea Inflammation of the cornea NOT_TRANSLATED -en nl HP:0033259 rdfs:label Non-motor seizure Non-motor seizure NOT_TRANSLATED -en nl HP:0033259 IAO:0000115 A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown NOT_TRANSLATED -en nl HP:0000492 rdfs:label Abnormal eyelid morphology Afwijking van het ooglid CANDIDATE -en nl HP:0000492 IAO:0000115 An abnormality of the eyelids An abnormality of the eyelids NOT_TRANSLATED -en nl HP:0033260 rdfs:label Livedo racemosa Livedo racemosa NOT_TRANSLATED -en nl HP:0033260 IAO:0000115 Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming NOT_TRANSLATED -en nl HP:0000493 rdfs:label Abnormal foveal morphology Afwijking van de fovea CANDIDATE -en nl HP:0000493 IAO:0000115 An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina NOT_TRANSLATED -en nl HP:0033261 rdfs:label Renal artery aneurysm Renal artery aneurysm NOT_TRANSLATED -en nl HP:0033261 IAO:0000115 Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment NOT_TRANSLATED -en nl HP:0000494 rdfs:label Downslanted palpebral fissures Schuin naar beneden lopende ooglidspleten CANDIDATE -en nl HP:0000494 IAO:0000115 The palpebral fissure inclination is more than two standard deviations below the mean The palpebral fissure inclination is more than two standard deviations below the mean NOT_TRANSLATED -en nl HP:0033262 rdfs:label Transphyseal fracture of the distal humerus Transphyseal fracture of the distal humerus NOT_TRANSLATED -en nl HP:0033262 IAO:0000115 A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis NOT_TRANSLATED -en nl HP:0000495 rdfs:label Recurrent corneal erosions Terugkerende corneale erosie CANDIDATE -en nl HP:0000495 IAO:0000115 The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations NOT_TRANSLATED -en nl HP:0033263 rdfs:label Absent platelet dense granules Absent platelet dense granules NOT_TRANSLATED -en nl HP:0033263 IAO:0000115 Lack of platelet dense granules, a type of platelet organelles Lack of platelet dense granules, a type of platelet organelles NOT_TRANSLATED -en nl HP:0000496 rdfs:label Abnormality of eye movement Afwijking van oogbeweging CANDIDATE -en nl HP:0000496 IAO:0000115 An abnormality in voluntary or involuntary eye movements or their control An abnormality in voluntary or involuntary eye movements or their control NOT_TRANSLATED -en nl HP:0033264 rdfs:label Enlarged platelet dense granules Enlarged platelet dense granules NOT_TRANSLATED -en nl HP:0033264 IAO:0000115 Increased size of platelet dense granules Increased size of platelet dense granules NOT_TRANSLATED -en nl HP:0000497 rdfs:label Globe retraction and deviation on abduction Oog retractie en afwijking van abductie CANDIDATE -en nl HP:0033265 rdfs:label Podocyte myelin figures Podocyte myelin figures NOT_TRANSLATED -en nl HP:0033265 IAO:0000115 Lamellated intracytoplasmic lipid inclusions within podocytes Lamellated intracytoplasmic lipid inclusions within podocytes NOT_TRANSLATED -en nl HP:0000498 rdfs:label Blepharitis Blefaritis CANDIDATE -en nl HP:0000498 IAO:0000115 Inflammation of the eyelids Inflammation of the eyelids NOT_TRANSLATED -en nl HP:0033266 rdfs:label Glomerular pseudocrescent Glomerular pseudocrescent NOT_TRANSLATED -en nl HP:0033266 IAO:0000115 Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact NOT_TRANSLATED -en nl HP:0000499 rdfs:label Abnormal eyelash morphology Afwijking van de wimpers CANDIDATE -en nl HP:0000499 IAO:0000115 An abnormality of the eyelashes An abnormality of the eyelashes NOT_TRANSLATED -en nl HP:0033267 rdfs:label Abnormal glomerular capillary lumen morphology Abnormal glomerular capillary lumen morphology NOT_TRANSLATED -en nl HP:0033267 IAO:0000115 Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus NOT_TRANSLATED -en nl HP:0033268 rdfs:label Deflation of the glomerular tuft Deflation of the glomerular tuft NOT_TRANSLATED -en nl HP:0033268 IAO:0000115 Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane NOT_TRANSLATED -en nl HP:0000501 rdfs:label Glaucoma Glaucoom CANDIDATE -en nl HP:0000501 IAO:0000115 Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure NOT_TRANSLATED -en nl HP:0033269 rdfs:label Glomerular capillary collapse Glomerular capillary collapse NOT_TRANSLATED -en nl HP:0033269 IAO:0000115 Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs) Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs) NOT_TRANSLATED -en nl HP:0000502 rdfs:label Abnormal conjunctiva morphology Afwijking van de conjunctiva CANDIDATE -en nl HP:0000502 IAO:0000115 An abnormality of the conjunctiva An abnormality of the conjunctiva NOT_TRANSLATED -en nl HP:0033270 rdfs:label Glomerular capillary congestion Glomerular capillary congestion NOT_TRANSLATED -en nl HP:0033270 IAO:0000115 Global distention of glomerular capillaries with intraluminal intact red blood cells Global distention of glomerular capillaries with intraluminal intact red blood cells NOT_TRANSLATED -en nl HP:0000503 rdfs:label Tortuosity of conjunctival vessels Tortuositeit van conjunctivale vaten CANDIDATE -en nl HP:0000503 IAO:0000115 The presence of an increased number of twists and turns of the conjunctival blood vessels The presence of an increased number of twists and turns of the conjunctival blood vessels NOT_TRANSLATED -en nl HP:0033271 rdfs:label Glomerular capillary microaneurysm Glomerular capillary microaneurysm NOT_TRANSLATED -en nl HP:0033271 IAO:0000115 Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis NOT_TRANSLATED -en nl HP:0000504 rdfs:label Abnormality of vision Afwijking van het zicht CANDIDATE -en nl HP:0000504 IAO:0000115 Abnormality of eyesight (visual perception) Abnormality of eyesight (visual perception) NOT_TRANSLATED -en nl HP:0033272 rdfs:label Abnormal glomerular endothelial cell morphology Abnormal glomerular endothelial cell morphology NOT_TRANSLATED -en nl HP:0033272 IAO:0000115 An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier NOT_TRANSLATED -en nl HP:0000505 rdfs:label Visual impairment Slechtziendheid CANDIDATE -en nl HP:0000505 IAO:0000115 Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery NOT_TRANSLATED -en nl HP:0033273 rdfs:label Loss of glomerular endothelial cell fenestration Loss of glomerular endothelial cell fenestration NOT_TRANSLATED -en nl HP:0033273 IAO:0000115 Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm NOT_TRANSLATED -en nl HP:0000506 rdfs:label Telecanthus Telecanthus CANDIDATE -en nl HP:0000506 IAO:0000115 Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi NOT_TRANSLATED -en nl HP:0033274 rdfs:label Glomerular endotheliosis Glomerular endotheliosis NOT_TRANSLATED -en nl HP:0033274 IAO:0000115 Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen NOT_TRANSLATED -en nl HP:0033275 rdfs:label Glomerular endothelial tubuloreticular inclusion Glomerular endothelial tubuloreticular inclusion NOT_TRANSLATED -en nl HP:0033275 IAO:0000115 Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon NOT_TRANSLATED -en nl HP:0000508 rdfs:label Ptosis Ptosis CANDIDATE -en nl HP:0000508 IAO:0000115 The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective) The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective) NOT_TRANSLATED -en nl HP:0000509 rdfs:label Conjunctivitis Conjunctivitis CANDIDATE -en nl HP:0000509 IAO:0000115 Inflammation of the conjunctiva Inflammation of the conjunctiva NOT_TRANSLATED -en nl HP:0033277 rdfs:label Glomerular fibrinoid necrosis Glomerular fibrinoid necrosis NOT_TRANSLATED -en nl HP:0033277 IAO:0000115 Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis NOT_TRANSLATED -en nl HP:0000510 rdfs:label Rod-cone dystrophy Staaf-kegeldystrofie CANDIDATE -en nl HP:0000510 IAO:0000115 An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones NOT_TRANSLATED -en nl HP:0033278 rdfs:label Reduced CD95-induced lymphocyte apoptosis Reduced CD95-induced lymphocyte apoptosis NOT_TRANSLATED -en nl HP:0033278 IAO:0000115 Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells NOT_TRANSLATED -en nl HP:0000511 rdfs:label Vertical supranuclear gaze palsy Verticale supranucleaire parese CANDIDATE -en nl HP:0000511 IAO:0000115 A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal NOT_TRANSLATED -en nl HP:0033279 rdfs:label Enterocutaneous fistula Enterocutaneous fistula NOT_TRANSLATED -en nl HP:0033279 IAO:0000115 An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin NOT_TRANSLATED -en nl HP:0000512 rdfs:label Abnormal electroretinogram Abnormaal elektroretinogram CANDIDATE -en nl HP:0000512 IAO:0000115 Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography NOT_TRANSLATED -en nl HP:0033280 rdfs:label Paratracheal lymphadenopathy Paratracheal lymphadenopathy NOT_TRANSLATED -en nl HP:0033280 IAO:0000115 Enlargement of lymph nodes surrounding the trachea Enlargement of lymph nodes surrounding the trachea NOT_TRANSLATED -en nl HP:0033281 rdfs:label Circulating nucleated red blood cells Circulating nucleated red blood cells NOT_TRANSLATED -en nl HP:0033281 IAO:0000115 The presence of nucleated red blood cells in the peripheral blood circulation The presence of nucleated red blood cells in the peripheral blood circulation NOT_TRANSLATED -en nl HP:0000514 rdfs:label Slow saccadic eye movements Langzame saccadische oogbewegingen CANDIDATE -en nl HP:0000514 IAO:0000115 An abnormally slow velocity of the saccadic eye movements An abnormally slow velocity of the saccadic eye movements NOT_TRANSLATED -en nl HP:0033282 rdfs:label Abnormal glomerular basement membrane morphology Abnormal glomerular basement membrane morphology NOT_TRANSLATED -en nl HP:0033282 IAO:0000115 Any abnormal sttructure of the glomerular basement membrane Any abnormal sttructure of the glomerular basement membrane NOT_TRANSLATED -en nl HP:0033283 rdfs:label Segmentally thickened glomerular basement membrane Segmentally thickened glomerular basement membrane NOT_TRANSLATED -en nl HP:0033283 IAO:0000115 Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals NOT_TRANSLATED -en nl HP:0033284 rdfs:label Diffusely thickened glomerular basement membrane Diffusely thickened glomerular basement membrane NOT_TRANSLATED -en nl HP:0033284 IAO:0000115 Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals NOT_TRANSLATED -en nl HP:0000517 rdfs:label Abnormal lens morphology Afwijking van de lens CANDIDATE -en nl HP:0000517 IAO:0000115 An abnormality of the lens An abnormality of the lens NOT_TRANSLATED -en nl HP:0033285 rdfs:label Thickened glomerular basement membranes with no electron dense deposits Thickened glomerular basement membranes with no electron dense deposits NOT_TRANSLATED -en nl HP:0033285 IAO:0000115 Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy NOT_TRANSLATED -en nl HP:0000518 rdfs:label Cataract Cataract CANDIDATE -en nl HP:0000518 IAO:0000115 A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule NOT_TRANSLATED -en nl HP:0033286 rdfs:label Thickened glomerular basement membranes with electron dense deposits Thickened glomerular basement membranes with electron dense deposits NOT_TRANSLATED -en nl HP:0000519 rdfs:label Developmental cataract Congenitaal cataract CANDIDATE -en nl HP:0000519 IAO:0000115 A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens NOT_TRANSLATED -en nl HP:0033287 rdfs:label Glomerular basement membrane lucencies Glomerular basement membrane lucencies NOT_TRANSLATED -en nl HP:0033287 IAO:0000115 Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits NOT_TRANSLATED -en nl HP:0000520 rdfs:label Proptosis Proptosis CANDIDATE -en nl HP:0000520 IAO:0000115 An eye that is protruding anterior to the plane of the face to a greater extent than is typical An eye that is protruding anterior to the plane of the face to a greater extent than is typical NOT_TRANSLATED -en nl HP:0033288 rdfs:label Glomerular basement membrane spikes Glomerular basement membrane spikes NOT_TRANSLATED -en nl HP:0033289 rdfs:label Glomerular basement membrane wrinkling Glomerular basement membrane wrinkling NOT_TRANSLATED -en nl HP:0033289 IAO:0000115 Irregular folding of the glomerular basement membrane with an intact lamina densa Irregular folding of the glomerular basement membrane with an intact lamina densa NOT_TRANSLATED -en nl HP:0000522 rdfs:label Alacrima Alacrima CANDIDATE -en nl HP:0000522 IAO:0000115 Absence of tear secretion Absence of tear secretion NOT_TRANSLATED -en nl HP:0033290 rdfs:label Glomerular subendothelial widening Glomerular subendothelial widening NOT_TRANSLATED -en nl HP:0033290 IAO:0000115 Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material NOT_TRANSLATED -en nl HP:0000523 rdfs:label Subcapsular cataract Subcapsulair cataract CANDIDATE -en nl HP:0000523 IAO:0000115 A cataract that affects the region of the lens directly beneath the capsule of the lens A cataract that affects the region of the lens directly beneath the capsule of the lens NOT_TRANSLATED -en nl HP:0033291 rdfs:label Glomerular karyhorrhectic debris Glomerular karyhorrhectic debris NOT_TRANSLATED -en nl HP:0033291 IAO:0000115 Apoptotic, pyknotic, and fragmented nuclei within the glomerulus Apoptotic, pyknotic, and fragmented nuclei within the glomerulus NOT_TRANSLATED -en nl HP:0000524 rdfs:label Conjunctival telangiectasia Conjunctivale telangiëctasie CANDIDATE -en nl HP:0000524 IAO:0000115 The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva NOT_TRANSLATED -en nl HP:0033292 rdfs:label Glomerular fibrin thrombus Glomerular fibrin thrombus NOT_TRANSLATED -en nl HP:0033292 IAO:0000115 An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen NOT_TRANSLATED -en nl HP:0000525 rdfs:label Abnormality iris morphology Afwijking van de iris CANDIDATE -en nl HP:0000525 IAO:0000115 An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil NOT_TRANSLATED -en nl HP:0033293 rdfs:label Glomerular hyaline pseudothrombus Glomerular hyaline pseudothrombus NOT_TRANSLATED -en nl HP:0033293 IAO:0000115 Intracapillary amorphous, eosinophilic material consisting of immune deposits Intracapillary amorphous, eosinophilic material consisting of immune deposits NOT_TRANSLATED -en nl HP:0000526 rdfs:label Aniridia Aniridie CANDIDATE -en nl HP:0000526 IAO:0000115 Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris NOT_TRANSLATED -en nl HP:0033294 rdfs:label Glomerular lipoprotein thrombus Glomerular lipoprotein thrombus NOT_TRANSLATED -en nl HP:0033294 IAO:0000115 Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections NOT_TRANSLATED -en nl HP:0000527 rdfs:label Long eyelashes Lange wimpers CANDIDATE -en nl HP:0000527 IAO:0000115 Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective) Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective) NOT_TRANSLATED -en nl HP:0033295 rdfs:label Mesangial Immune complex deposition Mesangial Immune complex deposition NOT_TRANSLATED -en nl HP:0033295 IAO:0000115 Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit NOT_TRANSLATED -en nl HP:0000528 rdfs:label Anophthalmia Anolftamie CANDIDATE -en nl HP:0000528 IAO:0000115 Absence of the globe or eyeball Absence of the globe or eyeball NOT_TRANSLATED -en nl HP:0033296 rdfs:label Binucleated visceral epithelial cells Binucleated visceral epithelial cells NOT_TRANSLATED -en nl HP:0033296 IAO:0000115 Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy NOT_TRANSLATED -en nl HP:0000529 rdfs:label Progressive visual loss Pogressief gezichtsverlies CANDIDATE -en nl HP:0000529 IAO:0000115 A reduction of previously attained ability to see A reduction of previously attained ability to see NOT_TRANSLATED -en nl HP:0033297 rdfs:label Multinucleated visceral epithelial cells Multinucleated visceral epithelial cells NOT_TRANSLATED -en nl HP:0033297 IAO:0000115 Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy NOT_TRANSLATED -en nl HP:0033298 rdfs:label Abnormal circulating complement factor H related protein 1 concentration Abnormal circulating complement factor H related protein 1 concentration NOT_TRANSLATED -en nl HP:0033298 IAO:0000115 A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) NOT_TRANSLATED -en nl HP:0000531 rdfs:label Corneal crystals Corneale kristallen CANDIDATE -en nl HP:0033299 rdfs:label Reduced circulating complement factor H related protein 1 concentration Reduced circulating complement factor H related protein 1 concentration NOT_TRANSLATED -en nl HP:0033299 IAO:0000115 Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation NOT_TRANSLATED -en nl HP:0000532 rdfs:label Abnormal chorioretinal morphology Chorioretinale abnormaliteit CANDIDATE -en nl HP:0000532 IAO:0000115 An abnormality of the choroid and retina An abnormality of the choroid and retina NOT_TRANSLATED -en nl HP:0033300 rdfs:label Increased circulating complement factor H related protein 1 concentration Increased circulating complement factor H related protein 1 concentration NOT_TRANSLATED -en nl HP:0033300 IAO:0000115 Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation NOT_TRANSLATED -en nl HP:0000533 rdfs:label Chorioretinal atrophy Chorioretinale atrofie CANDIDATE -en nl HP:0000533 IAO:0000115 Atrophy of the choroid and retinal layers of the fundus Atrophy of the choroid and retinal layers of the fundus NOT_TRANSLATED -en nl HP:0033301 rdfs:label Elevated circulating 1-methylhistidine concentration Elevated circulating 1-methylhistidine concentration NOT_TRANSLATED -en nl HP:0033301 IAO:0000115 An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine NOT_TRANSLATED -en nl HP:0000534 rdfs:label Abnormal eyebrow morphology Afwijking van de wenkbrauw CANDIDATE -en nl HP:0000534 IAO:0000115 An abnormality of the eyebrow An abnormality of the eyebrow NOT_TRANSLATED -en nl HP:0033302 rdfs:label Elevated circulating 4-hydroxyphenylacetic acid concentration Elevated circulating 4-hydroxyphenylacetic acid concentration NOT_TRANSLATED -en nl HP:0033302 IAO:0000115 An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation NOT_TRANSLATED -en nl HP:0033303 rdfs:label Elevated urinary monocarboxylic acid level Elevated urinary monocarboxylic acid level NOT_TRANSLATED -en nl HP:0033303 IAO:0000115 Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group NOT_TRANSLATED -en nl HP:0000537 rdfs:label Epicanthus inversus Epicanthus inversus CANDIDATE -en nl HP:0000537 IAO:0000115 A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus NOT_TRANSLATED -en nl HP:0033305 rdfs:label Abnormal circulating fetuin A concentration Abnormal circulating fetuin A concentration NOT_TRANSLATED -en nl HP:0033305 IAO:0000115 Any deviation from the normal concentration of fetuin A in the blood circulation Any deviation from the normal concentration of fetuin A in the blood circulation NOT_TRANSLATED -en nl HP:0000538 rdfs:label Pseudopapilledema Pseudopapilledema CANDIDATE -en nl HP:0000538 IAO:0000115 Apparent optic disc swelling in the absence of increased intracranial pressure Apparent optic disc swelling in the absence of increased intracranial pressure NOT_TRANSLATED -en nl HP:0033306 rdfs:label Decreased circulating fetuin A concentration Decreased circulating fetuin A concentration NOT_TRANSLATED -en nl HP:0033306 IAO:0000115 A reduction below normal of fetuin A in the blood circulation A reduction below normal of fetuin A in the blood circulation NOT_TRANSLATED -en nl HP:0000539 rdfs:label Abnormality of refraction Afwijking van refractie CANDIDATE -en nl HP:0000539 IAO:0000115 An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina NOT_TRANSLATED -en nl HP:0033307 rdfs:label Increased circulating fetuin A concentration Increased circulating fetuin A concentration NOT_TRANSLATED -en nl HP:0033307 IAO:0000115 An elevation above normal of fetuin A in the blood circulation An elevation above normal of fetuin A in the blood circulation NOT_TRANSLATED -en nl HP:0000540 rdfs:label Hypermetropia Hypermetropie CANDIDATE -en nl HP:0000540 IAO:0000115 An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry NOT_TRANSLATED -en nl HP:0033308 rdfs:label Patellar overgrowth Patellar overgrowth NOT_TRANSLATED -en nl HP:0033308 IAO:0000115 Excessive growth of the kneecap (patella) Excessive growth of the kneecap (patella) NOT_TRANSLATED -en nl HP:0000541 rdfs:label Retinal detachment Retinale loslating CANDIDATE -en nl HP:0000541 IAO:0000115 Separation of the inner layers of the retina (neural retina) from the pigment epithelium Separation of the inner layers of the retina (neural retina) from the pigment epithelium NOT_TRANSLATED -en nl HP:0033309 rdfs:label Ileoileal intussusception Ileoileal intussusception NOT_TRANSLATED -en nl HP:0033309 IAO:0000115 A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum NOT_TRANSLATED -en nl HP:0000542 rdfs:label Impaired ocular adduction Verzwakte oculaire adductie CANDIDATE -en nl HP:0000542 IAO:0000115 Reduced ability to move the eye in the direction of the nose Reduced ability to move the eye in the direction of the nose NOT_TRANSLATED -en nl HP:0033310 rdfs:label Osmotic diarrhea Osmotic diarrhea NOT_TRANSLATED -en nl HP:0033310 IAO:0000115 Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption NOT_TRANSLATED -en nl HP:0000543 rdfs:label Optic disc pallor Bleekheid optische schijf CANDIDATE -en nl HP:0000543 IAO:0000115 A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression NOT_TRANSLATED -en nl HP:0033311 rdfs:label Abdominal aortic dissection Abdominal aortic dissection NOT_TRANSLATED -en nl HP:0033311 IAO:0000115 A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers NOT_TRANSLATED -en nl HP:0000544 rdfs:label External ophthalmoplegia Externe oftalmoplegie CANDIDATE -en nl HP:0000544 IAO:0000115 Paralysis of the external ocular muscles Paralysis of the external ocular muscles NOT_TRANSLATED -en nl HP:0033312 rdfs:label Abnormal Bowman space morphology Abnormal Bowman space morphology NOT_TRANSLATED -en nl HP:0033312 IAO:0000115 Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron NOT_TRANSLATED -en nl HP:0000545 rdfs:label Myopia Myopie CANDIDATE -en nl HP:0000545 IAO:0000115 An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry NOT_TRANSLATED -en nl HP:0033313 rdfs:label Urinary space collagenization Urinary space collagenization NOT_TRANSLATED -en nl HP:0033313 IAO:0000115 Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft NOT_TRANSLATED -en nl HP:0000546 rdfs:label Retinal degeneration Retinale degeneratie CANDIDATE -en nl HP:0000546 IAO:0000115 A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells NOT_TRANSLATED -en nl HP:0033314 rdfs:label Visceral epithelial cell hyperplasia Visceral epithelial cell hyperplasia NOT_TRANSLATED -en nl HP:0033314 IAO:0000115 Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium NOT_TRANSLATED -en nl HP:0033315 rdfs:label Visceral epithelial hyaline droplets Visceral epithelial hyaline droplets NOT_TRANSLATED -en nl HP:0033315 IAO:0000115 Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells NOT_TRANSLATED -en nl HP:0000548 rdfs:label Cone/cone-rod dystrophy Kegel/kegel-staafdystrofie CANDIDATE -en nl HP:0033316 rdfs:label Glomerular crescent formation Glomerular crescent formation NOT_TRANSLATED -en nl HP:0033316 IAO:0000115 Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin NOT_TRANSLATED -en nl HP:0000549 rdfs:label Abnormal conjugate eye movement Abnormale geconjugeerde oogbeweging CANDIDATE -en nl HP:0000549 IAO:0000115 Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object NOT_TRANSLATED -en nl HP:0033317 rdfs:label Cellular crescent Cellular crescent NOT_TRANSLATED -en nl HP:0033317 IAO:0000115 A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix NOT_TRANSLATED -en nl HP:0000550 rdfs:label Undetectable electroretinogram Ondetecteerbaar elektroretinogram CANDIDATE -en nl HP:0000550 IAO:0000115 Lack of any response to stimulation upon electroretinography Lack of any response to stimulation upon electroretinography NOT_TRANSLATED -en nl HP:0033318 rdfs:label Fibrocellular crescent Fibrocellular crescent NOT_TRANSLATED -en nl HP:0033318 IAO:0000115 A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix NOT_TRANSLATED -en nl HP:0000551 rdfs:label Color vision defect Afwijking van kleurvisie CANDIDATE -en nl HP:0000551 IAO:0000115 An anomaly in the ability to discriminate between or recognize colors An anomaly in the ability to discriminate between or recognize colors NOT_TRANSLATED -en nl HP:0033319 rdfs:label Fibrous crescent Fibrous crescent NOT_TRANSLATED -en nl HP:0033319 IAO:0000115 A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference NOT_TRANSLATED -en nl HP:0000552 rdfs:label Tritanomaly Tritanomalie CANDIDATE -en nl HP:0000552 IAO:0000115 Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment NOT_TRANSLATED -en nl HP:0033320 rdfs:label Mesangial cell loss Mesangial cell loss NOT_TRANSLATED -en nl HP:0033320 IAO:0000115 Loss of mesangial cells segmentally or globally Loss of mesangial cells segmentally or globally NOT_TRANSLATED -en nl HP:0000553 rdfs:label Abnormal uvea morphology Afwijking van de uvea CANDIDATE -en nl HP:0000553 IAO:0000115 An abnormality of the uvea, the vascular layer of the eyeball An abnormality of the uvea, the vascular layer of the eyeball NOT_TRANSLATED -en nl HP:0033321 rdfs:label Glomerular obsolescence Glomerular obsolescence NOT_TRANSLATED -en nl HP:0033321 IAO:0000115 Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium NOT_TRANSLATED -en nl HP:0000554 rdfs:label Uveitis Uveïtis CANDIDATE -en nl HP:0000554 IAO:0000115 Inflammation of one or all portions of the uveal tract Inflammation of one or all portions of the uveal tract NOT_TRANSLATED -en nl HP:0033322 rdfs:label Glomerular capillary wall duplication without cellular interposition Glomerular capillary wall duplication without cellular interposition NOT_TRANSLATED -en nl HP:0033322 IAO:0000115 Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM NOT_TRANSLATED -en nl HP:0000555 rdfs:label Leukocoria Leukocorie CANDIDATE -en nl HP:0000555 IAO:0000115 An abnormal white reflection from the pupil rather than the usual black reflection An abnormal white reflection from the pupil rather than the usual black reflection NOT_TRANSLATED -en nl HP:0033323 rdfs:label Glomerular capillary wall duplication with cellular interposition Glomerular capillary wall duplication with cellular interposition NOT_TRANSLATED -en nl HP:0033323 IAO:0000115 Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM NOT_TRANSLATED -en nl HP:0000556 rdfs:label Retinal dystrophy Retinale dystrofie CANDIDATE -en nl HP:0000556 IAO:0000115 Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event NOT_TRANSLATED -en nl HP:0033324 rdfs:label Elevated circulating homovanillic acid concentration Elevated circulating homovanillic acid concentration NOT_TRANSLATED -en nl HP:0033324 IAO:0000115 Increased concentration of homovanillic acid in the blood circulation Increased concentration of homovanillic acid in the blood circulation NOT_TRANSLATED -en nl HP:0000557 rdfs:label Buphthalmos Buftalmie CANDIDATE -en nl HP:0000557 IAO:0000115 Diffusely large eye (with megalocornea) associated with glaucoma Diffusely large eye (with megalocornea) associated with glaucoma NOT_TRANSLATED -en nl HP:0033325 rdfs:label Elevated circulating sebacic acid concentration Elevated circulating sebacic acid concentration NOT_TRANSLATED -en nl HP:0033325 IAO:0000115 Increased concentration of sebacic acid in the blood circulation Increased concentration of sebacic acid in the blood circulation NOT_TRANSLATED -en nl HP:0000558 rdfs:label Rieger anomaly Rieger syndroom CANDIDATE -en nl HP:0000558 IAO:0000115 A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities NOT_TRANSLATED -en nl HP:0033326 rdfs:label Elevated circulating hydroxyphenlyllactic acid concentration Elevated circulating hydroxyphenlyllactic acid concentration NOT_TRANSLATED -en nl HP:0033326 IAO:0000115 An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation NOT_TRANSLATED -en nl HP:0000559 rdfs:label Corneal scarring Corneale littekenvorming CANDIDATE -en nl HP:0033327 rdfs:label Nail psoriasis Nail psoriasis NOT_TRANSLATED -en nl HP:0033327 IAO:0000115 Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed NOT_TRANSLATED -en nl HP:0033328 rdfs:label Type II pneumocyte hyperplasia Type II pneumocyte hyperplasia NOT_TRANSLATED -en nl HP:0033328 IAO:0000115 Increase in the number of type II pneumocytes Increase in the number of type II pneumocytes NOT_TRANSLATED -en nl HP:0000561 rdfs:label Absent eyelashes Afwezige wimpers CANDIDATE -en nl HP:0000561 IAO:0000115 Lack of eyelashes Lack of eyelashes NOT_TRANSLATED -en nl HP:0033329 rdfs:label Abnormal postural reflex Abnormal postural reflex NOT_TRANSLATED -en nl HP:0033329 IAO:0000115 Anomaly of the physiological response to maintain the body's posture when movement and position is altered Anomaly of the physiological response to maintain the body's posture when movement and position is altered NOT_TRANSLATED -en nl HP:0033330 rdfs:label Impaired neck-righting reflex Impaired neck-righting reflex NOT_TRANSLATED -en nl HP:0033330 IAO:0000115 Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years NOT_TRANSLATED -en nl HP:0000563 rdfs:label Keratoconus Keratoconus CANDIDATE -en nl HP:0000563 IAO:0000115 A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex NOT_TRANSLATED -en nl HP:0033331 rdfs:label Acute phase response Acute phase response NOT_TRANSLATED -en nl HP:0033331 IAO:0000115 Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing NOT_TRANSLATED -en nl HP:0000564 rdfs:label Lacrimal duct atresia Atresie van de traanbuis CANDIDATE -en nl HP:0000564 IAO:0000115 A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct NOT_TRANSLATED -en nl HP:0033332 rdfs:label Elevated circulating amyloid A Elevated circulating amyloid A NOT_TRANSLATED -en nl HP:0033332 IAO:0000115 An increased concentration of serum amyloid A in the blood circulation An increased concentration of serum amyloid A in the blood circulation NOT_TRANSLATED -en nl HP:0000565 rdfs:label Esotropia Esotropie CANDIDATE -en nl HP:0000565 IAO:0000115 A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more NOT_TRANSLATED -en nl HP:0033333 rdfs:label Jaw contracture Jaw contracture NOT_TRANSLATED -en nl HP:0033333 IAO:0000115 Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement NOT_TRANSLATED -en nl HP:0033334 rdfs:label Abnormal embryonic development Abnormal embryonic development NOT_TRANSLATED -en nl HP:0033334 IAO:0000115 An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm NOT_TRANSLATED -en nl HP:0000567 rdfs:label Chorioretinal coloboma Chorioretinaal coloboom CANDIDATE -en nl HP:0000567 IAO:0000115 Absence of a region of the retina, retinal pigment epithelium, and choroid Absence of a region of the retina, retinal pigment epithelium, and choroid NOT_TRANSLATED -en nl HP:0033335 rdfs:label Abnormal preimplantation embryonic development Abnormal preimplantation embryonic development NOT_TRANSLATED -en nl HP:0033335 IAO:0000115 An anomaly in the development of the embryo in a stage prior to implantation An anomaly in the development of the embryo in a stage prior to implantation NOT_TRANSLATED -en nl HP:0000568 rdfs:label Microphthalmia Microftalmie CANDIDATE -en nl HP:0000568 IAO:0000115 A developmental anomaly characterized by abnormal smallness of one or both eyes A developmental anomaly characterized by abnormal smallness of one or both eyes NOT_TRANSLATED -en nl HP:0033336 rdfs:label Zygotic cleavage failure Zygotic cleavage failure NOT_TRANSLATED -en nl HP:0033336 IAO:0000115 Failure of a fertilized oocyte to undergo the first round of cell division Failure of a fertilized oocyte to undergo the first round of cell division NOT_TRANSLATED -en nl HP:0033337 rdfs:label Abnormal gametogenesis Abnormal gametogenesis NOT_TRANSLATED -en nl HP:0033337 IAO:0000115 An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II NOT_TRANSLATED -en nl HP:0000570 rdfs:label Abnormal saccadic eye movements Afwijking van saccadische oogbewegingen CANDIDATE -en nl HP:0000570 IAO:0000115 An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements NOT_TRANSLATED -en nl HP:0033338 rdfs:label Abnormal female meiosis Abnormal female meiosis NOT_TRANSLATED -en nl HP:0033338 IAO:0000115 Anomalous oocyte meiosis Anomalous oocyte meiosis NOT_TRANSLATED -en nl HP:0000571 rdfs:label Hypometric saccades Hypometrische saccades CANDIDATE -en nl HP:0000571 IAO:0000115 Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object NOT_TRANSLATED -en nl HP:0033339 rdfs:label Increased circulating inosine concentration Increased circulating inosine concentration NOT_TRANSLATED -en nl HP:0033339 IAO:0000115 An increased concentration of inosine in the blood circulation An increased concentration of inosine in the blood circulation NOT_TRANSLATED -en nl HP:0000572 rdfs:label Visual loss Gezichtsverlies CANDIDATE -en nl HP:0000572 IAO:0000115 Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that) Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that) NOT_TRANSLATED -en nl HP:0033340 rdfs:label Increased circulating guanosine concentration Increased circulating guanosine concentration NOT_TRANSLATED -en nl HP:0033340 IAO:0000115 Increased concentration of guanosine in the blood circulation Increased concentration of guanosine in the blood circulation NOT_TRANSLATED -en nl HP:0000573 rdfs:label Retinal hemorrhage Retinale bloeding CANDIDATE -en nl HP:0000573 IAO:0000115 Hemorrhage occurring within the retina Hemorrhage occurring within the retina NOT_TRANSLATED -en nl HP:0033341 rdfs:label Elevated circulating sitosterol concentration Elevated circulating sitosterol concentration NOT_TRANSLATED -en nl HP:0033341 IAO:0000115 An increased concentration of beta-sitosterol in the blood circulation An increased concentration of beta-sitosterol in the blood circulation NOT_TRANSLATED -en nl HP:0000574 rdfs:label Thick eyebrow Dikke wenbrauw CANDIDATE -en nl HP:0000574 IAO:0000115 Increased density/number and/or increased diameter of eyebrow hairs Increased density/number and/or increased diameter of eyebrow hairs NOT_TRANSLATED -en nl HP:0033342 rdfs:label Anti-aquaporin 4 antibody positivity Anti-aquaporin 4 antibody positivity NOT_TRANSLATED -en nl HP:0033342 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4 The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4 NOT_TRANSLATED -en nl HP:0000575 rdfs:label Scotoma Scotoom CANDIDATE -en nl HP:0000575 IAO:0000115 A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision NOT_TRANSLATED -en nl HP:0033343 rdfs:label Mucoid diarrhea Mucoid diarrhea NOT_TRANSLATED -en nl HP:0033343 IAO:0000115 Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes NOT_TRANSLATED -en nl HP:0000576 rdfs:label Centrocecal scotoma Centrocoecaal scotoom CANDIDATE -en nl HP:0000576 IAO:0000115 A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape NOT_TRANSLATED -en nl HP:0033344 rdfs:label Pleural cobblestoning Pleural cobblestoning NOT_TRANSLATED -en nl HP:0033344 IAO:0000115 A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura NOT_TRANSLATED -en nl HP:0000577 rdfs:label Exotropia Exotropie CANDIDATE -en nl HP:0000577 IAO:0000115 A form of strabismus with one or both eyes deviated outward A form of strabismus with one or both eyes deviated outward NOT_TRANSLATED -en nl HP:0033345 rdfs:label Neuralgia Neuralgia NOT_TRANSLATED -en nl HP:0033345 IAO:0000115 Pain (An unpleasant sensory and emotional experience) along the course of a nerve Pain (An unpleasant sensory and emotional experience) along the course of a nerve NOT_TRANSLATED -en nl HP:0033346 rdfs:label Psychic epileptic aura Psychic epileptic aura NOT_TRANSLATED -en nl HP:0033346 IAO:0000115 Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events NOT_TRANSLATED -en nl HP:0000579 rdfs:label Nasolacrimal duct obstruction Nasolacrimaal kanaal obstructie CANDIDATE -en nl HP:0000579 IAO:0000115 Blockage of the lacrimal duct Blockage of the lacrimal duct NOT_TRANSLATED -en nl HP:0033347 rdfs:label Cognitive epileptic aura Cognitive epileptic aura NOT_TRANSLATED -en nl HP:0033347 IAO:0000115 A purely subjective manifestation of an epileptic seizure pertaining to altered cognition A purely subjective manifestation of an epileptic seizure pertaining to altered cognition NOT_TRANSLATED -en nl HP:0000580 rdfs:label Pigmentary retinopathy Pigmentaire retinopathie CANDIDATE -en nl HP:0000580 IAO:0000115 An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss NOT_TRANSLATED -en nl HP:0033348 rdfs:label Epileptic aura Epileptic aura NOT_TRANSLATED -en nl HP:0033348 IAO:0000115 An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure NOT_TRANSLATED -en nl HP:0000581 rdfs:label Blepharophimosis Blefarofimomis CANDIDATE -en nl HP:0000581 IAO:0000115 A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures NOT_TRANSLATED -en nl HP:0033349 rdfs:label Seizure cluster Seizure cluster NOT_TRANSLATED -en nl HP:0033349 IAO:0000115 A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient NOT_TRANSLATED -en nl HP:0000582 rdfs:label Upslanted palpebral fissure Schuin naar boven lopende oogspleet CANDIDATE -en nl HP:0000582 IAO:0000115 The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age NOT_TRANSLATED -en nl HP:0033350 rdfs:label Elevated forced expiratory volume in one second Elevated forced expiratory volume in one second NOT_TRANSLATED -en nl HP:0033350 IAO:0000115 An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject NOT_TRANSLATED -en nl HP:0033351 rdfs:label Candida esophagitis Candida esophagitis NOT_TRANSLATED -en nl HP:0033351 IAO:0000115 Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain NOT_TRANSLATED -en nl HP:0000584 rdfs:label Punctate corneal epithelial erosions Punctate corneale epitheliale erosies CANDIDATE -en nl HP:0033352 rdfs:label Pulmonary hypertensive crisis Pulmonary hypertensive crisis NOT_TRANSLATED -en nl HP:0033352 IAO:0000115 Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output NOT_TRANSLATED -en nl HP:0000585 rdfs:label Band keratopathy Band-keratopathie CANDIDATE -en nl HP:0000585 IAO:0000115 An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation NOT_TRANSLATED -en nl HP:0033353 rdfs:label Abnormal blood vessel morphology Abnormal blood vessel morphology NOT_TRANSLATED -en nl HP:0033353 IAO:0000115 Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein) Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein) NOT_TRANSLATED -en nl HP:0000586 rdfs:label Shallow orbits Ondiepe oogkassen CANDIDATE -en nl HP:0000586 IAO:0000115 Reduced depth of the orbits associated with prominent-appearing ocular globes Reduced depth of the orbits associated with prominent-appearing ocular globes NOT_TRANSLATED -en nl HP:0033354 rdfs:label Abnormal urine metabolite level Abnormal urine metabolite level NOT_TRANSLATED -en nl HP:0033354 IAO:0000115 Any deviation from the normal amount of a metabolite in urine Any deviation from the normal amount of a metabolite in urine NOT_TRANSLATED -en nl HP:0000587 rdfs:label Abnormality of the optic nerve Afwijking van de oogzenuw CANDIDATE -en nl HP:0000587 IAO:0000115 Abnormality of the optic nerve Abnormality of the optic nerve NOT_TRANSLATED -en nl HP:0033355 rdfs:label Increased urine deoxypyridinoline level Increased urine deoxypyridinoline level NOT_TRANSLATED -en nl HP:0033355 IAO:0000115 An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover NOT_TRANSLATED -en nl HP:0000588 rdfs:label Optic disc coloboma Oogzenuw coloboom CANDIDATE -en nl HP:0000588 IAO:0000115 A cleft of the optic nerve that extends inferiorly A cleft of the optic nerve that extends inferiorly NOT_TRANSLATED -en nl HP:0033356 rdfs:label Elevated circulating o-phosphoserine concentration Elevated circulating o-phosphoserine concentration NOT_TRANSLATED -en nl HP:0033356 IAO:0000115 An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine NOT_TRANSLATED -en nl HP:0000589 rdfs:label Coloboma Coloboom CANDIDATE -en nl HP:0000589 IAO:0000115 A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa NOT_TRANSLATED -en nl HP:0033357 rdfs:label Limited head rotation Limited head rotation NOT_TRANSLATED -en nl HP:0033357 IAO:0000115 Reduced range of motion turning the head side to side Reduced range of motion turning the head side to side NOT_TRANSLATED -en nl HP:0000590 rdfs:label Progressive external ophthalmoplegia Progressieve externe oftalmoplegie CANDIDATE -en nl HP:0000590 IAO:0000115 Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades NOT_TRANSLATED -en nl HP:0033358 rdfs:label Abnormal urine osmolality Abnormal urine osmolality NOT_TRANSLATED -en nl HP:0033358 IAO:0000115 A deviation from the normal range of concentration of particles in urine A deviation from the normal range of concentration of particles in urine NOT_TRANSLATED -en nl HP:0000591 rdfs:label Abnormal sclera morphology Afwijking van de sclera CANDIDATE -en nl HP:0000591 IAO:0000115 An abnormality of the sclera An abnormality of the sclera NOT_TRANSLATED -en nl HP:0033359 rdfs:label Hyperosthenuria Hyperosthenuria NOT_TRANSLATED -en nl HP:0033359 IAO:0000115 An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine NOT_TRANSLATED -en nl HP:0000592 rdfs:label Blue sclerae Blauwe sclerae CANDIDATE -en nl HP:0000592 IAO:0000115 An abnormal bluish coloration of the sclera An abnormal bluish coloration of the sclera NOT_TRANSLATED -en nl HP:0033360 rdfs:label Impaired ability to shift attention Impaired ability to shift attention NOT_TRANSLATED -en nl HP:0033360 IAO:0000115 A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible NOT_TRANSLATED -en nl HP:0000593 rdfs:label Abnormal anterior chamber morphology Afwijking van de voorste kamer CANDIDATE -en nl HP:0000593 IAO:0000115 Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris NOT_TRANSLATED -en nl HP:0033361 rdfs:label Nasal ulcer Nasal ulcer NOT_TRANSLATED -en nl HP:0033361 IAO:0000115 An open sore of the nasal mucosa An open sore of the nasal mucosa NOT_TRANSLATED -en nl HP:0000594 rdfs:label Shallow anterior chamber Ondiepe voorste kamer CANDIDATE -en nl HP:0000594 IAO:0000115 Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased NOT_TRANSLATED -en nl HP:0033362 rdfs:label Recurrent coughing spasms Recurrent coughing spasms NOT_TRANSLATED -en nl HP:0033362 IAO:0000115 Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing NOT_TRANSLATED -en nl HP:0033363 rdfs:label Hyaline membranes Hyaline membranes NOT_TRANSLATED -en nl HP:0033363 IAO:0000115 Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult NOT_TRANSLATED -en nl HP:0033364 rdfs:label Lipoid pneumonia Lipoid pneumonia NOT_TRANSLATED -en nl HP:0033364 IAO:0000115 A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid NOT_TRANSLATED -en nl HP:0000597 rdfs:label Ophthalmoparesis Oftalmoparese CANDIDATE -en nl HP:0000597 IAO:0000115 Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement NOT_TRANSLATED -en nl HP:0033365 rdfs:label Endogenous lipoid pneumonia Endogenous lipoid pneumonia NOT_TRANSLATED -en nl HP:0033365 IAO:0000115 A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace NOT_TRANSLATED -en nl HP:0000598 rdfs:label Abnormality of the ear Afwijking van het oor CANDIDATE -en nl HP:0000598 IAO:0000115 An abnormality of the ear An abnormality of the ear NOT_TRANSLATED -en nl HP:0033366 rdfs:label Exogenous lipoid pneumonia Exogenous lipoid pneumonia NOT_TRANSLATED -en nl HP:0033366 IAO:0000115 A type of lipoid pneumonia in which the source of the lipids is external to the body A type of lipoid pneumonia in which the source of the lipids is external to the body NOT_TRANSLATED -en nl HP:0000599 rdfs:label Abnormality of the frontal hairline Afwijking van de frontale haarlijn CANDIDATE -en nl HP:0000599 IAO:0000115 An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not NOT_TRANSLATED -en nl HP:0033367 rdfs:label Orthodeoxia Orthodeoxia NOT_TRANSLATED -en nl HP:0033367 IAO:0000115 Low level of blood oxygen induced by changing from a recumbent to an upright position Low level of blood oxygen induced by changing from a recumbent to an upright position NOT_TRANSLATED -en nl HP:0000600 rdfs:label Abnormality of the pharynx Afwijking van de keelholte CANDIDATE -en nl HP:0000600 IAO:0000115 An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly NOT_TRANSLATED -en nl HP:0033368 rdfs:label Platypnea Platypnea NOT_TRANSLATED -en nl HP:0033368 IAO:0000115 A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position NOT_TRANSLATED -en nl HP:0000601 rdfs:label Hypotelorism Hypotelorisme CANDIDATE -en nl HP:0000601 IAO:0000115 Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes) Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes) NOT_TRANSLATED -en nl HP:0033369 rdfs:label Cavitating leukodystrophy Cavitating leukodystrophy NOT_TRANSLATED -en nl HP:0033369 IAO:0000115 A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity NOT_TRANSLATED -en nl HP:0000602 rdfs:label Ophthalmoplegia Oftalmoplegie CANDIDATE -en nl HP:0000602 IAO:0000115 Paralysis of one or more extraocular muscles that are responsible for eye movements Paralysis of one or more extraocular muscles that are responsible for eye movements NOT_TRANSLATED -en nl HP:0033370 rdfs:label Bronchial telangiectasia Bronchial telangiectasia NOT_TRANSLATED -en nl HP:0033370 IAO:0000115 Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system NOT_TRANSLATED -en nl HP:0000603 rdfs:label Central scotoma Centraal Scotoom CANDIDATE -en nl HP:0000603 IAO:0000115 An area of depressed vision located at the point of fixation and that interferes with central vision An area of depressed vision located at the point of fixation and that interferes with central vision NOT_TRANSLATED -en nl HP:0033371 rdfs:label Bronchocentric granulomatosis Bronchocentric granulomatosis NOT_TRANSLATED -en nl HP:0033371 IAO:0000115 Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen NOT_TRANSLATED -en nl HP:0033372 rdfs:label Abnormal KCO Abnormal KCO NOT_TRANSLATED -en nl HP:0033372 IAO:0000115 Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O NOT_TRANSLATED -en nl HP:0000605 rdfs:label Supranuclear gaze palsy Supranucleaire blikparese CANDIDATE -en nl HP:0000605 IAO:0000115 A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal NOT_TRANSLATED -en nl HP:0033373 rdfs:label Increased KCO Increased KCO NOT_TRANSLATED -en nl HP:0033373 IAO:0000115 Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) NOT_TRANSLATED -en nl HP:0000606 rdfs:label Abnormality of the periorbital region Afwijking van de periorbitale regio CANDIDATE -en nl HP:0000606 IAO:0000115 An abnormality of the region situated around the orbit of the eye An abnormality of the region situated around the orbit of the eye NOT_TRANSLATED -en nl HP:0033374 rdfs:label Decreased KCO Decreased KCO NOT_TRANSLATED -en nl HP:0033374 IAO:0000115 Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) NOT_TRANSLATED -en nl HP:0000607 rdfs:label Periorbital wrinkles Periorbitale rimpels CANDIDATE -en nl HP:0033375 rdfs:label Anthracosis Anthracosis NOT_TRANSLATED -en nl HP:0033375 IAO:0000115 Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers NOT_TRANSLATED -en nl HP:0000608 rdfs:label Macular degeneration Maculaire degeneratie CANDIDATE -en nl HP:0000608 IAO:0000115 A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea NOT_TRANSLATED -en nl HP:0033376 rdfs:label Alveolar septal thickening Alveolar septal thickening NOT_TRANSLATED -en nl HP:0033376 IAO:0000115 Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology NOT_TRANSLATED -en nl HP:0000609 rdfs:label Optic nerve hypoplasia Hypoplasie van de oogzenuw CANDIDATE -en nl HP:0000609 IAO:0000115 Underdevelopment of the optic nerve Underdevelopment of the optic nerve NOT_TRANSLATED -en nl HP:0033377 rdfs:label Increased airway neuroendocrine cells Increased airway neuroendocrine cells NOT_TRANSLATED -en nl HP:0033377 IAO:0000115 Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs) Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs) NOT_TRANSLATED -en nl HP:0000610 rdfs:label Abnormal choroid morphology Afwijking van het vaatvlies CANDIDATE -en nl HP:0000610 IAO:0000115 Any structural abnormality of the choroid Any structural abnormality of the choroid NOT_TRANSLATED -en nl HP:0033378 rdfs:label Increased airway neuroepithelial bodies Increased airway neuroepithelial bodies NOT_TRANSLATED -en nl HP:0033378 IAO:0000115 Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts NOT_TRANSLATED -en nl HP:0033379 rdfs:label Bilateral superior vena cava Bilateral superior vena cava NOT_TRANSLATED -en nl HP:0033379 IAO:0000115 The presence of a left and a right superior vena cava The presence of a left and a right superior vena cava NOT_TRANSLATED -en nl HP:0000612 rdfs:label Iris coloboma Iris coloboom CANDIDATE -en nl HP:0000612 IAO:0000115 A coloboma of the iris A coloboma of the iris NOT_TRANSLATED -en nl HP:0033380 rdfs:label Nasal chondritis Nasal chondritis NOT_TRANSLATED -en nl HP:0033380 IAO:0000115 Inflammation of the cartilage of the nose Inflammation of the cartilage of the nose NOT_TRANSLATED -en nl HP:0000613 rdfs:label Photophobia Fotofobie CANDIDATE -en nl HP:0000613 IAO:0000115 Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light NOT_TRANSLATED -en nl HP:0033381 rdfs:label Elevated circulating stearoylcarnitine concentration Elevated circulating stearoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033381 IAO:0000115 Abnormally increased concentration of O-stearoylcarnitine in the blood circulation Abnormally increased concentration of O-stearoylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000614 rdfs:label Abnormal nasolacrimal system morphology Afwijking van het nasolacrimaal-systeem CANDIDATE -en nl HP:0000614 IAO:0000115 An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity NOT_TRANSLATED -en nl HP:0033382 rdfs:label Elevated circulating palmitoylcarnitine concentration Elevated circulating palmitoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033382 IAO:0000115 Abnormally increased concentration of palmitoylcarnitine in the blood circulation Abnormally increased concentration of palmitoylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000615 rdfs:label Abnormal pupil morphology Afwijking van de pupil CANDIDATE -en nl HP:0000615 IAO:0000115 An abnormality of the pupil An abnormality of the pupil NOT_TRANSLATED -en nl HP:0033383 rdfs:label Decreased compound muscle action potential amplitude Decreased compound muscle action potential amplitude NOT_TRANSLATED -en nl HP:0033383 IAO:0000115 Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve NOT_TRANSLATED -en nl HP:0000616 rdfs:label Miosis Miose CANDIDATE -en nl HP:0000616 IAO:0000115 Abnormal (non-physiological) constriction of the pupil Abnormal (non-physiological) constriction of the pupil NOT_TRANSLATED -en nl HP:0033384 rdfs:label Elevated urinary collagen degradation products Elevated urinary collagen degradation products NOT_TRANSLATED -en nl HP:0033384 IAO:0000115 Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease NOT_TRANSLATED -en nl HP:0000617 rdfs:label Abnormality of ocular smooth pursuit Afwijking van gladde oculaire vervolging CANDIDATE -en nl HP:0000617 IAO:0000115 An abnormality of eye movement characterized by impaired smooth-pursuit eye movements An abnormality of eye movement characterized by impaired smooth-pursuit eye movements NOT_TRANSLATED -en nl HP:0033385 rdfs:label Elevated urine pyridinoline level Elevated urine pyridinoline level NOT_TRANSLATED -en nl HP:0033385 IAO:0000115 An increased amount of pyridinoline in the urine An increased amount of pyridinoline in the urine NOT_TRANSLATED -en nl HP:0000618 rdfs:label Blindness Blindheid CANDIDATE -en nl HP:0000618 IAO:0000115 Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation NOT_TRANSLATED -en nl HP:0033386 rdfs:label Abnormal circulating collagen degradation product concentration Abnormal circulating collagen degradation product concentration NOT_TRANSLATED -en nl HP:0033386 IAO:0000115 Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease NOT_TRANSLATED -en nl HP:0000619 rdfs:label Impaired convergence Verminderde convergentie CANDIDATE -en nl HP:0000619 IAO:0000115 Reduced ability to turn the eyes inward in order to focus on a nearby object Reduced ability to turn the eyes inward in order to focus on a nearby object NOT_TRANSLATED -en nl HP:0033387 rdfs:label Elevated circulating pyridinoline concentration Elevated circulating pyridinoline concentration NOT_TRANSLATED -en nl HP:0033387 IAO:0000115 An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation NOT_TRANSLATED -en nl HP:0000620 rdfs:label Dacryocystitis Dacryocystitis CANDIDATE -en nl HP:0000620 IAO:0000115 Inflammation of the nasolacrimal sac Inflammation of the nasolacrimal sac NOT_TRANSLATED -en nl HP:0033388 rdfs:label Abnormal bronchial artery morphology Abnormal bronchial artery morphology NOT_TRANSLATED -en nl HP:0033388 IAO:0000115 Any structural abnormality of a bronchial artery Any structural abnormality of a bronchial artery NOT_TRANSLATED -en nl HP:0000621 rdfs:label Entropion Entropion CANDIDATE -en nl HP:0000621 IAO:0000115 An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital NOT_TRANSLATED -en nl HP:0033389 rdfs:label Bronchopulmonary anastomosis Bronchopulmonary anastomosis NOT_TRANSLATED -en nl HP:0033389 IAO:0000115 Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries NOT_TRANSLATED -en nl HP:0000622 rdfs:label Blurred vision Wazig zicht CANDIDATE -en nl HP:0000622 IAO:0000115 Lack of sharpness of vision resulting in the inability to see fine detail Lack of sharpness of vision resulting in the inability to see fine detail NOT_TRANSLATED -en nl HP:0033390 rdfs:label Bronchial artery dilatation Bronchial artery dilatation NOT_TRANSLATED -en nl HP:0033390 IAO:0000115 Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm NOT_TRANSLATED -en nl HP:0000623 rdfs:label Supranuclear ophthalmoplegia Supranucleaire oftalmoplegie CANDIDATE -en nl HP:0000623 IAO:0000115 A vertical gaze palsy with inability to direct the gaze of the eyes downwards A vertical gaze palsy with inability to direct the gaze of the eyes downwards NOT_TRANSLATED -en nl HP:0033391 rdfs:label Bronchial artery hypertrophy Bronchial artery hypertrophy NOT_TRANSLATED -en nl HP:0033391 IAO:0000115 Increase in the volume of bronchial artery wall due to the enlargement of its component cells Increase in the volume of bronchial artery wall due to the enlargement of its component cells NOT_TRANSLATED -en nl HP:0033392 rdfs:label Perivascular pre-capillary pulmonary artery inflammation Perivascular pre-capillary pulmonary artery inflammation NOT_TRANSLATED -en nl HP:0033392 IAO:0000115 Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer) Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer) NOT_TRANSLATED -en nl HP:0000625 rdfs:label Eyelid coloboma Gespleten ooglid CANDIDATE -en nl HP:0000625 IAO:0000115 A short discontinuity of the margin of the lower or upper eyelid A short discontinuity of the margin of the lower or upper eyelid NOT_TRANSLATED -en nl HP:0033393 rdfs:label Irregularly shaped sperm tail Irregularly shaped sperm tail NOT_TRANSLATED -en nl HP:0033393 IAO:0000115 Irregular or changing caliber (diameter) along the tail of the sperm Irregular or changing caliber (diameter) along the tail of the sperm NOT_TRANSLATED -en nl HP:0033394 rdfs:label Anti-carbonic anhydrase II antibody positivity Anti-carbonic anhydrase II antibody positivity NOT_TRANSLATED -en nl HP:0033394 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II NOT_TRANSLATED -en nl HP:0000627 rdfs:label Posterior embryotoxon Achterste embryotoxon CANDIDATE -en nl HP:0000627 IAO:0000115 A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe NOT_TRANSLATED -en nl HP:0033395 rdfs:label Antilactoferrin antibody positivity Antilactoferrin antibody positivity NOT_TRANSLATED -en nl HP:0033395 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin NOT_TRANSLATED -en nl HP:0033396 rdfs:label Glomerular extracapillary fibrin Glomerular extracapillary fibrin NOT_TRANSLATED -en nl HP:0033396 IAO:0000115 Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina NOT_TRANSLATED -en nl HP:0000629 rdfs:label Periorbital fullness Periorbitale volheid CANDIDATE -en nl HP:0000629 IAO:0000115 Increase in periorbital soft tissue Increase in periorbital soft tissue NOT_TRANSLATED -en nl HP:0033397 rdfs:label Bowman-space proteinaceous debris Bowman-space proteinaceous debris NOT_TRANSLATED -en nl HP:0033397 IAO:0000115 The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space NOT_TRANSLATED -en nl HP:0000630 rdfs:label Abnormal retinal artery morphology Afwijking van retinale slagaders CANDIDATE -en nl HP:0033398 rdfs:label Pleural plaque Pleural plaque NOT_TRANSLATED -en nl HP:0033398 IAO:0000115 Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) NOT_TRANSLATED -en nl HP:0000631 rdfs:label Retinal arterial tortuosity Retinale arteriële kronkeligheid CANDIDATE -en nl HP:0000631 IAO:0000115 The presence of an increased number of twists and turns of the retinal artery The presence of an increased number of twists and turns of the retinal artery NOT_TRANSLATED -en nl HP:0033399 rdfs:label Persistent fever Persistent fever NOT_TRANSLATED -en nl HP:0033399 IAO:0000115 Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks NOT_TRANSLATED -en nl HP:0000632 rdfs:label Lacrimation abnormality Traanproductie abnormaliteit CANDIDATE -en nl HP:0000632 IAO:0000115 Abnormality of tear production Abnormality of tear production NOT_TRANSLATED -en nl HP:0033400 rdfs:label Acute abdomen Acute abdomen NOT_TRANSLATED -en nl HP:0033400 IAO:0000115 A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction NOT_TRANSLATED -en nl HP:0000633 rdfs:label Decreased lacrimation Verminderde traanproductie CANDIDATE -en nl HP:0000633 IAO:0000115 Abnormally decreased lacrimation, that is, reduced ability to produce tears Abnormally decreased lacrimation, that is, reduced ability to produce tears NOT_TRANSLATED -en nl HP:0033401 rdfs:label Tissue ischemia Tissue ischemia NOT_TRANSLATED -en nl HP:0033401 IAO:0000115 Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion NOT_TRANSLATED -en nl HP:0000634 rdfs:label Impaired ocular abduction Verminderde oculaire abductie CANDIDATE -en nl HP:0000634 IAO:0000115 An impaired ability of the eye to move in the outward direction (towards the side of the head) An impaired ability of the eye to move in the outward direction (towards the side of the head) NOT_TRANSLATED -en nl HP:0033402 rdfs:label Digital ischemia Digital ischemia NOT_TRANSLATED -en nl HP:0033402 IAO:0000115 Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis NOT_TRANSLATED -en nl HP:0000635 rdfs:label Blue irides Blauwe irissen CANDIDATE -en nl HP:0000635 IAO:0000115 A markedly blue coloration of the iris A markedly blue coloration of the iris NOT_TRANSLATED -en nl HP:0033403 rdfs:label Testicular ischemia Testicular ischemia NOT_TRANSLATED -en nl HP:0033403 IAO:0000115 Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis NOT_TRANSLATED -en nl HP:0000636 rdfs:label Upper eyelid coloboma Bovenste ooglid coloboom CANDIDATE -en nl HP:0000636 IAO:0000115 A short discontinuity of the margin of the upper eyelid A short discontinuity of the margin of the upper eyelid NOT_TRANSLATED -en nl HP:0033404 rdfs:label Intestinal ischemia Intestinal ischemia NOT_TRANSLATED -en nl HP:0033404 IAO:0000115 Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain NOT_TRANSLATED -en nl HP:0000637 rdfs:label Long palpebral fissure Lange oogspleet CANDIDATE -en nl HP:0000637 IAO:0000115 Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures NOT_TRANSLATED -en nl HP:0033405 rdfs:label Abnormal circulating organic amino compound concentration Abnormal circulating organic amino compound concentration NOT_TRANSLATED -en nl HP:0033405 IAO:0000115 Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups NOT_TRANSLATED -en nl HP:0033406 rdfs:label Elevated circulating o-phosphoethanolamine concentration Elevated circulating o-phosphoethanolamine concentration NOT_TRANSLATED -en nl HP:0033406 IAO:0000115 An increased concentration of o-phosphoethanolamine in the blood circulation An increased concentration of o-phosphoethanolamine in the blood circulation NOT_TRANSLATED -en nl HP:0000639 rdfs:label Nystagmus Nystagmus CANDIDATE -en nl HP:0000639 IAO:0000115 Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms NOT_TRANSLATED -en nl HP:0033407 rdfs:label Elevated urine acetoacetic acid level Elevated urine acetoacetic acid level NOT_TRANSLATED -en nl HP:0033407 IAO:0000115 Elevated amount of acetoacetic acid in the urine Elevated amount of acetoacetic acid in the urine NOT_TRANSLATED -en nl HP:0000640 rdfs:label Gaze-evoked nystagmus Door oogbeweging uitgelokte nystagmus CANDIDATE -en nl HP:0000640 IAO:0000115 Nystagmus made apparent by looking to the right or to the left Nystagmus made apparent by looking to the right or to the left NOT_TRANSLATED -en nl HP:0033408 rdfs:label Elevated circulating acetoacetic acid concentration Elevated circulating acetoacetic acid concentration NOT_TRANSLATED -en nl HP:0033408 IAO:0000115 An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies NOT_TRANSLATED -en nl HP:0000641 rdfs:label Dysmetric saccades Dysmetrische saccades CANDIDATE -en nl HP:0000641 IAO:0000115 The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results NOT_TRANSLATED -en nl HP:0033409 rdfs:label Elevated urinary 2-hydroxybutyric acid Elevated urinary 2-hydroxybutyric acid NOT_TRANSLATED -en nl HP:0033409 IAO:0000115 An increased amount of 2-hydroxybutyric acid in the urine An increased amount of 2-hydroxybutyric acid in the urine NOT_TRANSLATED -en nl HP:0000642 rdfs:label Red-green dyschromatopsia Rood-groenkleurenblindheid CANDIDATE -en nl HP:0000642 IAO:0000115 Difficulty with discriminating red and green hues Difficulty with discriminating red and green hues NOT_TRANSLATED -en nl HP:0033410 rdfs:label Elevated circulating cartilage oligomeric matrix protein concentration Elevated circulating cartilage oligomeric matrix protein concentration NOT_TRANSLATED -en nl HP:0033410 IAO:0000115 An increased blood concentration of cartilage oligomeric matrix protein (COMP) An increased blood concentration of cartilage oligomeric matrix protein (COMP) NOT_TRANSLATED -en nl HP:0000643 rdfs:label Blepharospasm Blefarospasme CANDIDATE -en nl HP:0000643 IAO:0000115 A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids NOT_TRANSLATED -en nl HP:0033411 rdfs:label Lower extremity akinesia Lower extremity akinesia NOT_TRANSLATED -en nl HP:0033411 IAO:0000115 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities NOT_TRANSLATED -en nl HP:0033412 rdfs:label Upper extremity akinesia Upper extremity akinesia NOT_TRANSLATED -en nl HP:0033412 IAO:0000115 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities NOT_TRANSLATED -en nl HP:0033413 rdfs:label Upper extremity hypokinesia Upper extremity hypokinesia NOT_TRANSLATED -en nl HP:0033413 IAO:0000115 Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency NOT_TRANSLATED -en nl HP:0000646 rdfs:label Amblyopia Amblyopie CANDIDATE -en nl HP:0000646 IAO:0000115 Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways NOT_TRANSLATED -en nl HP:0033414 rdfs:label Lower extremity hypokinesia Lower extremity hypokinesia NOT_TRANSLATED -en nl HP:0033414 IAO:0000115 Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency NOT_TRANSLATED -en nl HP:0000647 rdfs:label Sclerocornea Sclerocornea CANDIDATE -en nl HP:0000647 IAO:0000115 A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea NOT_TRANSLATED -en nl HP:0033415 rdfs:label Cardiac tamponade Cardiac tamponade NOT_TRANSLATED -en nl HP:0033415 IAO:0000115 The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling NOT_TRANSLATED -en nl HP:0000648 rdfs:label Optic atrophy Opticusatrofie CANDIDATE -en nl HP:0000648 IAO:0000115 Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy NOT_TRANSLATED -en nl HP:0033416 rdfs:label Hip adductor weakness Hip adductor weakness NOT_TRANSLATED -en nl HP:0033416 IAO:0000115 Reduced ability to bring the leg toward the midline of the body Reduced ability to bring the leg toward the midline of the body NOT_TRANSLATED -en nl HP:0000649 rdfs:label Abnormality of visual evoked potentials Afwijking van visuele opgewekte potentialen CANDIDATE -en nl HP:0000649 IAO:0000115 An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex NOT_TRANSLATED -en nl HP:0033417 rdfs:label Elevated circulating hydroxybutyric acid concentration Elevated circulating hydroxybutyric acid concentration NOT_TRANSLATED -en nl HP:0033417 IAO:0000115 An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent NOT_TRANSLATED -en nl HP:0000650 rdfs:label Abnormal amplitude of pattern reversal visual evoked potentials Abnormale amplitude van patroon omkerende visuele opgewekte potentialen CANDIDATE -en nl HP:0033418 rdfs:label Elevated circulating 2-hydroxybutyric acid concentration Elevated circulating 2-hydroxybutyric acid concentration NOT_TRANSLATED -en nl HP:0033418 IAO:0000115 Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range NOT_TRANSLATED -en nl HP:0000651 rdfs:label Diplopia Diplopie CANDIDATE -en nl HP:0000651 IAO:0000115 Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision NOT_TRANSLATED -en nl HP:0033419 rdfs:label Elevated circulating 3-hydroxybutyric acid concentration Elevated circulating 3-hydroxybutyric acid concentration NOT_TRANSLATED -en nl HP:0033419 IAO:0000115 Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range NOT_TRANSLATED -en nl HP:0000652 rdfs:label Lower eyelid coloboma Onderste ooglid coloboom CANDIDATE -en nl HP:0000652 IAO:0000115 A short discontinuity of the margin of the lower eyelid A short discontinuity of the margin of the lower eyelid NOT_TRANSLATED -en nl HP:0033420 rdfs:label Pulmonary arterial plexiform lesion Pulmonary arterial plexiform lesion NOT_TRANSLATED -en nl HP:0033420 IAO:0000115 Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels NOT_TRANSLATED -en nl HP:0000653 rdfs:label Sparse eyelashes Dunne wimpers CANDIDATE -en nl HP:0000653 IAO:0000115 Decreased density/number of eyelashes Decreased density/number of eyelashes NOT_TRANSLATED -en nl HP:0033421 rdfs:label Pulmonary artery intimal thickening Pulmonary artery intimal thickening NOT_TRANSLATED -en nl HP:0033421 IAO:0000115 Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10% Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10% NOT_TRANSLATED -en nl HP:0000654 rdfs:label Decreased light- and dark-adapted electroretinogram amplitude Verminderde licht- en donker-aangepaste elektroretinogram aplitude CANDIDATE -en nl HP:0000654 IAO:0000115 Descreased amplitude of eletrical response upon electroretinography Descreased amplitude of eletrical response upon electroretinography NOT_TRANSLATED -en nl HP:0033422 rdfs:label Pulmonary artery adventitial fibrosis Pulmonary artery adventitial fibrosis NOT_TRANSLATED -en nl HP:0033422 IAO:0000115 Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree NOT_TRANSLATED -en nl HP:0033423 rdfs:label Pulmonary arterial hypertension with positive acute response to NO challenge Pulmonary arterial hypertension with positive acute response to NO challenge NOT_TRANSLATED -en nl HP:0033423 IAO:0000115 A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm NOT_TRANSLATED -en nl HP:0000656 rdfs:label Ectropion Ectropion CANDIDATE -en nl HP:0000656 IAO:0000115 An outward turning (eversion) or rotation of the eyelid margin An outward turning (eversion) or rotation of the eyelid margin NOT_TRANSLATED -en nl HP:0033424 rdfs:label Pulmonary arterial hypertension with lack of acute response to NO challenge Pulmonary arterial hypertension with lack of acute response to NO challenge NOT_TRANSLATED -en nl HP:0033424 IAO:0000115 A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm) A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm) NOT_TRANSLATED -en nl HP:0000657 rdfs:label Oculomotor apraxia Oculomotorische apraxie CANDIDATE -en nl HP:0000657 IAO:0000115 Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex NOT_TRANSLATED -en nl HP:0033425 rdfs:label Periungual erythema Periungual erythema NOT_TRANSLATED -en nl HP:0033425 IAO:0000115 Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail NOT_TRANSLATED -en nl HP:0000658 rdfs:label Eyelid apraxia Ooglid apraxie CANDIDATE -en nl HP:0033426 rdfs:label Pulmonary air embolism Pulmonary air embolism NOT_TRANSLATED -en nl HP:0033426 IAO:0000115 Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation NOT_TRANSLATED -en nl HP:0000659 rdfs:label Peters anomaly Peters anomalie CANDIDATE -en nl HP:0000659 IAO:0000115 A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity NOT_TRANSLATED -en nl HP:0033427 rdfs:label Pulmonary capillary angioectasia Pulmonary capillary angioectasia NOT_TRANSLATED -en nl HP:0033427 IAO:0000115 Focal accumulation of dilated pulmonary capillaries Focal accumulation of dilated pulmonary capillaries NOT_TRANSLATED -en nl HP:0000660 rdfs:label Lipemia retinalis Lipemia retinalis CANDIDATE -en nl HP:0000660 IAO:0000115 A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature NOT_TRANSLATED -en nl HP:0033428 rdfs:label Systemic autoinflammation Systemic autoinflammation NOT_TRANSLATED -en nl HP:0033428 IAO:0000115 Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body NOT_TRANSLATED -en nl HP:0000661 rdfs:label Palpebral fissure narrowing on adduction Oogspleetvernauwing op adductie CANDIDATE -en nl HP:0033429 rdfs:label Neuroinflammation Neuroinflammation NOT_TRANSLATED -en nl HP:0033429 IAO:0000115 Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain NOT_TRANSLATED -en nl HP:0000662 rdfs:label Nyctalopia Nachtblindheid CANDIDATE -en nl HP:0000662 IAO:0000115 Inability to see well at night or in poor light Inability to see well at night or in poor light NOT_TRANSLATED -en nl HP:0033430 rdfs:label Non-infectious meningitis Non-infectious meningitis NOT_TRANSLATED -en nl HP:0033430 IAO:0000115 Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines NOT_TRANSLATED -en nl HP:0033431 rdfs:label Cytomegalovirus colitis Cytomegalovirus colitis NOT_TRANSLATED -en nl HP:0033431 IAO:0000115 A form of cytomegalovirus infection characterized by infection and inflammation of the colon A form of cytomegalovirus infection characterized by infection and inflammation of the colon NOT_TRANSLATED -en nl HP:0000664 rdfs:label Synophrys Synophrys CANDIDATE -en nl HP:0000664 IAO:0000115 Meeting of the medial eyebrows in the midline Meeting of the medial eyebrows in the midline NOT_TRANSLATED -en nl HP:0033432 rdfs:label Opportunistic viral infection Opportunistic viral infection NOT_TRANSLATED -en nl HP:0033433 rdfs:label Ileocecal ulcer Ileocecal ulcer NOT_TRANSLATED -en nl HP:0033433 IAO:0000115 An erosion of the mucous membrane in the region connecting the ileum and cecum An erosion of the mucous membrane in the region connecting the ileum and cecum NOT_TRANSLATED -en nl HP:0000666 rdfs:label Horizontal nystagmus Horizontale nystagmus CANDIDATE -en nl HP:0000666 IAO:0000115 Nystagmus consisting of horizontal to-and-fro eye movements Nystagmus consisting of horizontal to-and-fro eye movements NOT_TRANSLATED -en nl HP:0033434 rdfs:label Nasal septum perforation Nasal septum perforation NOT_TRANSLATED -en nl HP:0033434 IAO:0000115 A full-thickness defect of the nasal septum A full-thickness defect of the nasal septum NOT_TRANSLATED -en nl HP:0000667 rdfs:label Phthisis bulbi Phthisis bulbi CANDIDATE -en nl HP:0000667 IAO:0000115 Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease NOT_TRANSLATED -en nl HP:0033435 rdfs:label Abnormal circulating keto acid concentration Abnormal circulating keto acid concentration NOT_TRANSLATED -en nl HP:0033435 IAO:0000115 A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group NOT_TRANSLATED -en nl HP:0000668 rdfs:label Hypodontia Hypodontie CANDIDATE -en nl HP:0000668 IAO:0000115 The absence of five or less teeth from the normal series by a failure to develop The absence of five or less teeth from the normal series by a failure to develop NOT_TRANSLATED -en nl HP:0033436 rdfs:label Elevated circulating 3-methyl-2-oxovaleric acid concentration Elevated circulating 3-methyl-2-oxovaleric acid concentration NOT_TRANSLATED -en nl HP:0033436 IAO:0000115 An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation NOT_TRANSLATED -en nl HP:0033437 rdfs:label Elevated circulating 4-methyl-2-oxopentanoic acid concentration Elevated circulating 4-methyl-2-oxopentanoic acid concentration NOT_TRANSLATED -en nl HP:0033437 IAO:0000115 Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation NOT_TRANSLATED -en nl HP:0000670 rdfs:label Carious teeth Carieuze tanden CANDIDATE -en nl HP:0000670 IAO:0000115 Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries NOT_TRANSLATED -en nl HP:0033438 rdfs:label Elevated circulating myoglobin concentration Elevated circulating myoglobin concentration NOT_TRANSLATED -en nl HP:0033438 IAO:0000115 An increased blood concentration of myoglobin An increased blood concentration of myoglobin NOT_TRANSLATED -en nl HP:0033439 rdfs:label Elevated circulating decenoylcarnitine concentration Elevated circulating decenoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033439 IAO:0000115 Increased concentration of decenoylcarnitine in the blood circulation Increased concentration of decenoylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0033440 rdfs:label Elevated circulating octenoylcarnitine concentration Elevated circulating octenoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033440 IAO:0000115 Increased concentration of octenoylcarnitine in the blood circulation Increased concentration of octenoylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0033441 rdfs:label Elevated circulating hexanoylcarnitine concentration Elevated circulating hexanoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033441 IAO:0000115 Increased concentration of hexanoylcarnitine in the blood circulation Increased concentration of hexanoylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000674 rdfs:label Anodontia Anodontie CANDIDATE -en nl HP:0000674 IAO:0000115 The absence of all teeth from the normal series by a failure to develop The absence of all teeth from the normal series by a failure to develop NOT_TRANSLATED -en nl HP:0033442 rdfs:label Elevated circulating glutarylcarnitine concentration Elevated circulating glutarylcarnitine concentration NOT_TRANSLATED -en nl HP:0033442 IAO:0000115 Increased concentration of glutarylcarnitine in the blood circulation Increased concentration of glutarylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000675 rdfs:label Macrodontia of permanent maxillary central incisor Macrodontie van permanente maxillaire centrale snijtand CANDIDATE -en nl HP:0000675 IAO:0000115 Increased size of the maxillary central secondary incisor tooth Increased size of the maxillary central secondary incisor tooth NOT_TRANSLATED -en nl HP:0033443 rdfs:label Elevated circulating propionylcarnitine concentration Elevated circulating propionylcarnitine concentration NOT_TRANSLATED -en nl HP:0033443 IAO:0000115 Increased concentration of propionylcarnitine in the blood circulation Increased concentration of propionylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000676 rdfs:label Abnormality of the incisor Afwijking van de snijtand CANDIDATE -en nl HP:0000676 IAO:0000115 An abnormality of the Incisor tooth An abnormality of the Incisor tooth NOT_TRANSLATED -en nl HP:0033444 rdfs:label Elevated circulating dodecanoylcarnitine concentration Elevated circulating dodecanoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033444 IAO:0000115 Increased concentration of dodecanoylcarnitine in the blood circulation Increased concentration of dodecanoylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000677 rdfs:label Oligodontia Oligodontie CANDIDATE -en nl HP:0000677 IAO:0000115 The absence of six or more teeth from the normal series by a failurento develop The absence of six or more teeth from the normal series by a failurento develop NOT_TRANSLATED -en nl HP:0033445 rdfs:label Reduced circulating acylcarnitine concentration Reduced circulating acylcarnitine concentration NOT_TRANSLATED -en nl HP:0033445 IAO:0000115 An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED -en nl HP:0000678 rdfs:label Dental crowding Tand verdringing CANDIDATE -en nl HP:0000678 IAO:0000115 Changes in alignment of teeth in the dental arch Changes in alignment of teeth in the dental arch NOT_TRANSLATED -en nl HP:0033446 rdfs:label Elevated circulating butyrylcarnitine concentration Elevated circulating butyrylcarnitine concentration NOT_TRANSLATED -en nl HP:0033446 IAO:0000115 Increased concentration of O-butyrylcarnitine in the blood circulation Increased concentration of O-butyrylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000679 rdfs:label Taurodontia Taurodontie CANDIDATE -en nl HP:0000679 IAO:0000115 Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots NOT_TRANSLATED -en nl HP:0033447 rdfs:label Elevated circulating isovalerylcarnitine concentration Elevated circulating isovalerylcarnitine concentration NOT_TRANSLATED -en nl HP:0033447 IAO:0000115 Increased concentration of O-isovalerylcarnitine in the blood circulation Increased concentration of O-isovalerylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000680 rdfs:label Delayed eruption of primary teeth Vertraagd doorkomen van primaire tanden CANDIDATE -en nl HP:0000680 IAO:0000115 Delayed tooth eruption affecting the primary dentition Delayed tooth eruption affecting the primary dentition NOT_TRANSLATED -en nl HP:0033448 rdfs:label Increased mid-arm muscle circumference Increased mid-arm muscle circumference NOT_TRANSLATED -en nl HP:0033448 IAO:0000115 Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children NOT_TRANSLATED -en nl HP:0033449 rdfs:label Decreased mid-arm muscle circumference Decreased mid-arm muscle circumference NOT_TRANSLATED -en nl HP:0033449 IAO:0000115 Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children NOT_TRANSLATED -en nl HP:0000682 rdfs:label Abnormal dental enamel morphology Afwijking van tandglazuur CANDIDATE -en nl HP:0000682 IAO:0000115 An abnormality of the dental enamel An abnormality of the dental enamel NOT_TRANSLATED -en nl HP:0033450 rdfs:label Abnormal circulating prealbumin concentration Abnormal circulating prealbumin concentration NOT_TRANSLATED -en nl HP:0033450 IAO:0000115 Any deviation from normal concentration of albumin in the blood circulation Any deviation from normal concentration of albumin in the blood circulation NOT_TRANSLATED -en nl HP:0000683 rdfs:label Grayish enamel Grijsachtig glazuur CANDIDATE -en nl HP:0000683 IAO:0000115 A grey discoloration of the dental enamel A grey discoloration of the dental enamel NOT_TRANSLATED -en nl HP:0033451 rdfs:label Increased circulating prealbumin concentration Increased circulating prealbumin concentration NOT_TRANSLATED -en nl HP:0033451 IAO:0000115 An elevation above the normal concentration of prealbumin in the blood circulation An elevation above the normal concentration of prealbumin in the blood circulation NOT_TRANSLATED -en nl HP:0000684 rdfs:label Delayed eruption of teeth Vertraagd doorkomen van tanden CANDIDATE -en nl HP:0000684 IAO:0000115 Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age NOT_TRANSLATED -en nl HP:0033452 rdfs:label Decreased circulating prealbumin concentration Decreased circulating prealbumin concentration NOT_TRANSLATED -en nl HP:0033452 IAO:0000115 A reduction from the normal concentration of prealbumin in the blood circulation A reduction from the normal concentration of prealbumin in the blood circulation NOT_TRANSLATED -en nl HP:0000685 rdfs:label Hypoplasia of teeth Hypoplasie van tanden CANDIDATE -en nl HP:0000685 IAO:0000115 Developmental hypoplasia of teeth Developmental hypoplasia of teeth NOT_TRANSLATED -en nl HP:0033453 rdfs:label Limited neck extension Limited neck extension NOT_TRANSLATED -en nl HP:0033453 IAO:0000115 Reduced abilty to move the head back towards the ceiling so that one is looking upwards Reduced abilty to move the head back towards the ceiling so that one is looking upwards NOT_TRANSLATED -en nl HP:0033454 rdfs:label Tube feeding Tube feeding NOT_TRANSLATED -en nl HP:0033454 IAO:0000115 Feeding problem necessitating food and nutrient delivery via a tube Feeding problem necessitating food and nutrient delivery via a tube NOT_TRANSLATED -en nl HP:0000687 rdfs:label Widely spaced teeth Ver uit elkaar staande tanden CANDIDATE -en nl HP:0000687 IAO:0000115 Increased spaces (diastemata) between most of the teeth in the same dental arch Increased spaces (diastemata) between most of the teeth in the same dental arch NOT_TRANSLATED -en nl HP:0033456 rdfs:label Elevated urine keto acid level Elevated urine keto acid level NOT_TRANSLATED -en nl HP:0033456 IAO:0000115 Increased amount of a keta acid in the urine Increased amount of a keta acid in the urine NOT_TRANSLATED -en nl HP:0000689 rdfs:label Dental malocclusion Malocclusie van de tanden CANDIDATE -en nl HP:0000689 IAO:0000115 Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns NOT_TRANSLATED -en nl HP:0033457 rdfs:label Elevated urine 3-methyl-2-oxovaleric acid level Elevated urine 3-methyl-2-oxovaleric acid level NOT_TRANSLATED -en nl HP:0033457 IAO:0000115 Increased amount of 3-methyl-2-oxovaleric acid in the urine Increased amount of 3-methyl-2-oxovaleric acid in the urine NOT_TRANSLATED -en nl HP:0000690 rdfs:label Agenesis of maxillary lateral incisor Agenesie van maxillaire laterale snijtand CANDIDATE -en nl HP:0000690 IAO:0000115 Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor NOT_TRANSLATED -en nl HP:0033458 rdfs:label Elevated urine 4-methyl-2-oxopentanoic acid level Elevated urine 4-methyl-2-oxopentanoic acid level NOT_TRANSLATED -en nl HP:0033458 IAO:0000115 Increased amount of 4-methyl-2-oxopentanoic acid in the urine Increased amount of 4-methyl-2-oxopentanoic acid in the urine NOT_TRANSLATED -en nl HP:0000691 rdfs:label Microdontia Microdontie CANDIDATE -en nl HP:0000691 IAO:0000115 Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth NOT_TRANSLATED -en nl HP:0033459 rdfs:label Decreased circulating apolipoprotein concentration Decreased circulating apolipoprotein concentration NOT_TRANSLATED -en nl HP:0033459 IAO:0000115 Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein) Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein) NOT_TRANSLATED -en nl HP:0000692 rdfs:label Tooth malposition Tanden staan niet in een lijn CANDIDATE -en nl HP:0000692 IAO:0000115 Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth NOT_TRANSLATED -en nl HP:0033460 rdfs:label Increased circulating apolipoprotein circulation Increased circulating apolipoprotein circulation NOT_TRANSLATED -en nl HP:0033460 IAO:0000115 Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein) Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein) NOT_TRANSLATED -en nl HP:0033461 rdfs:label Elevated circulating 3-hydroxylinoleylcarnitine concentration Elevated circulating 3-hydroxylinoleylcarnitine concentration NOT_TRANSLATED -en nl HP:0033461 IAO:0000115 Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000694 rdfs:label Odontodysplasia Shell teeth CANDIDATE -en nl HP:0000694 IAO:0000115 The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin NOT_TRANSLATED -en nl HP:0033462 rdfs:label Elevated circulating oleylcarnitine concentration Elevated circulating oleylcarnitine concentration NOT_TRANSLATED -en nl HP:0033462 IAO:0000115 Increased concentration of oleylcarnitine in the blood circulation Increased concentration of oleylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000695 rdfs:label Natal tooth Natale tand CANDIDATE -en nl HP:0000695 IAO:0000115 A tooth present at birth or erupting within the first month of life A tooth present at birth or erupting within the first month of life NOT_TRANSLATED -en nl HP:0000696 rdfs:label Delayed eruption of permanent teeth Vertraagd doorkomen van permanente tanden CANDIDATE -en nl HP:0000696 IAO:0000115 Delayed tooth eruption affecting the secondary dentition Delayed tooth eruption affecting the secondary dentition NOT_TRANSLATED -en nl HP:0033464 rdfs:label Elevated circulating 3-hydroxypalmitoleylcarnitine concentration Elevated circulating 3-hydroxypalmitoleylcarnitine concentration NOT_TRANSLATED -en nl HP:0033464 IAO:0000115 Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0033465 rdfs:label Elevated circulating tetradecanoylcarnitine concentration Elevated circulating tetradecanoylcarnitine concentration NOT_TRANSLATED -en nl HP:0033465 IAO:0000115 Elevated circulating tetradecanoyl concentration Elevated circulating tetradecanoyl concentration NOT_TRANSLATED -en nl HP:0000698 rdfs:label Conical tooth Conische tand CANDIDATE -en nl HP:0000698 IAO:0000115 An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally NOT_TRANSLATED -en nl HP:0033466 rdfs:label Weak grip Weak grip NOT_TRANSLATED -en nl HP:0033466 IAO:0000115 Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand NOT_TRANSLATED -en nl HP:0000699 rdfs:label Diastema Diasteem CANDIDATE -en nl HP:0000699 IAO:0000115 Increased space between two adjacent teeth in the same dental arch Increased space between two adjacent teeth in the same dental arch NOT_TRANSLATED -en nl HP:0033467 rdfs:label Low 10-minute APGAR score Low 10-minute APGAR score NOT_TRANSLATED -en nl HP:0033467 IAO:0000115 A normal APGAR score can be coded as 'not Low 10-minute APGAR score' A normal APGAR score can be coded as 'not Low 10-minute APGAR score' NOT_TRANSLATED -en nl HP:0000700 rdfs:label Periapical bone loss Periapicale radiolucentie CANDIDATE -en nl HP:0000700 IAO:0000115 Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root) Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root) NOT_TRANSLATED -en nl HP:0033468 rdfs:label 10-minute APGAR score of 0 10-minute APGAR score of 0 NOT_TRANSLATED -en nl HP:0033469 rdfs:label 10-minute APGAR score of 1 10-minute APGAR score of 1 NOT_TRANSLATED -en nl HP:0033470 rdfs:label 10-minute APGAR score of 2 10-minute APGAR score of 2 NOT_TRANSLATED -en nl HP:0000703 rdfs:label Dentinogenesis imperfecta Dentinogenesis imperfecta CANDIDATE -en nl HP:0000703 IAO:0000115 Developmental dysplasia of dentin Developmental dysplasia of dentin NOT_TRANSLATED -en nl HP:0033471 rdfs:label 10-minute APGAR score of 3 10-minute APGAR score of 3 NOT_TRANSLATED -en nl HP:0000704 rdfs:label Periodontitis Parodontitis CANDIDATE -en nl HP:0000704 IAO:0000115 Inflammation of the periodontium Inflammation of the periodontium NOT_TRANSLATED -en nl HP:0033472 rdfs:label 10-minute APGAR score of 4 10-minute APGAR score of 4 NOT_TRANSLATED -en nl HP:0000705 rdfs:label Amelogenesis imperfecta Amelogenesis imperfecta CANDIDATE -en nl HP:0000705 IAO:0000115 A developmental dysplasia of the dental enamel A developmental dysplasia of the dental enamel NOT_TRANSLATED -en nl HP:0033473 rdfs:label 10-minute APGAR score of 5 10-minute APGAR score of 5 NOT_TRANSLATED -en nl HP:0000706 rdfs:label Eruption failure Niet doorgekomen tand CANDIDATE -en nl HP:0000706 IAO:0000115 A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential NOT_TRANSLATED -en nl HP:0033474 rdfs:label 10-minute APGAR score of 6 10-minute APGAR score of 6 NOT_TRANSLATED -en nl HP:0000707 rdfs:label Abnormality of the nervous system Afwijking van het zenuwstelsel CANDIDATE -en nl HP:0000707 IAO:0000115 An abnormality of the nervous system An abnormality of the nervous system NOT_TRANSLATED -en nl HP:0033475 rdfs:label Limited shoulder abduction Limited shoulder abduction NOT_TRANSLATED -en nl HP:0033475 IAO:0000115 Decreased ability to move the arm away from the midline of the body Decreased ability to move the arm away from the midline of the body NOT_TRANSLATED -en nl HP:0000708 rdfs:label Behavioral abnormality Gedragsabnormaliteit CANDIDATE -en nl HP:0000708 IAO:0000115 An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities NOT_TRANSLATED -en nl HP:0033476 rdfs:label Extractable nuclear antigen positivity Extractable nuclear antigen positivity NOT_TRANSLATED -en nl HP:0033476 IAO:0000115 The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution NOT_TRANSLATED -en nl HP:0000709 rdfs:label Psychosis Psychose CANDIDATE -en nl HP:0000709 IAO:0000115 A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs NOT_TRANSLATED -en nl HP:0033477 rdfs:label Abnormal circulating lipoprotein lipase concentration Abnormal circulating lipoprotein lipase concentration NOT_TRANSLATED -en nl HP:0033477 IAO:0000115 A deviation from the normal concentration of lipoprotein lipase in the blood circulation A deviation from the normal concentration of lipoprotein lipase in the blood circulation NOT_TRANSLATED -en nl HP:0000710 rdfs:label Hyperorality Hyperoraliteit CANDIDATE -en nl HP:0000710 IAO:0000115 A tendency or compulsion to examine objects by mouth A tendency or compulsion to examine objects by mouth NOT_TRANSLATED -en nl HP:0033478 rdfs:label Increased circulating lipoprotein lipase concentration Increased circulating lipoprotein lipase concentration NOT_TRANSLATED -en nl HP:0033478 IAO:0000115 Increased concentration of lipoprotein lipase in the blood circulation Increased concentration of lipoprotein lipase in the blood circulation NOT_TRANSLATED -en nl HP:0000711 rdfs:label Restlessness Rusteloosheid CANDIDATE -en nl HP:0000711 IAO:0000115 A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress NOT_TRANSLATED -en nl HP:0033479 rdfs:label Abnormal circulating bilirubin concentration Abnormal circulating bilirubin concentration NOT_TRANSLATED -en nl HP:0000712 rdfs:label Emotional lability Emotionele labiliteit CANDIDATE -en nl HP:0000712 IAO:0000115 Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances NOT_TRANSLATED -en nl HP:0033480 rdfs:label Hypobilirubinemia Hypobilirubinemia NOT_TRANSLATED -en nl HP:0033480 IAO:0000115 Decreased circulation of bilirubin in the blood circulation Decreased circulation of bilirubin in the blood circulation NOT_TRANSLATED -en nl HP:0000713 rdfs:label Agitation Agitatie CANDIDATE -en nl HP:0000713 IAO:0000115 A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension NOT_TRANSLATED -en nl HP:0033481 rdfs:label Limited lateral neck flexion Limited lateral neck flexion NOT_TRANSLATED -en nl HP:0033481 IAO:0000115 Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder NOT_TRANSLATED -en nl HP:0033482 rdfs:label Limited shoulder flexion Limited shoulder flexion NOT_TRANSLATED -en nl HP:0033482 IAO:0000115 A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head NOT_TRANSLATED -en nl HP:0033483 rdfs:label Podocyte infolding Podocyte infolding NOT_TRANSLATED -en nl HP:0033483 IAO:0000115 Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM NOT_TRANSLATED -en nl HP:0000716 rdfs:label Depression Depressie CANDIDATE -en nl HP:0000716 IAO:0000115 Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior NOT_TRANSLATED -en nl HP:0033484 rdfs:label Elevated circulating linoleylcarnitine concentration Elevated circulating linoleylcarnitine concentration NOT_TRANSLATED -en nl HP:0033484 IAO:0000115 Increased concentration of linoleylcarnitine in the blood circulation Increased concentration of linoleylcarnitine in the blood circulation NOT_TRANSLATED -en nl HP:0000717 rdfs:label Autism Autisme CANDIDATE -en nl HP:0000717 IAO:0000115 Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV) Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV) NOT_TRANSLATED -en nl HP:0033485 rdfs:label Glomerular basement membrane disruption Glomerular basement membrane disruption NOT_TRANSLATED -en nl HP:0033485 IAO:0000115 A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver NOT_TRANSLATED -en nl HP:0000718 rdfs:label Aggressive behavior Agressief gedrag CANDIDATE -en nl HP:0000718 IAO:0000115 Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself NOT_TRANSLATED -en nl HP:0033486 rdfs:label Abnormal glomerular basement membrane texture Abnormal glomerular basement membrane texture NOT_TRANSLATED -en nl HP:0033486 IAO:0000115 Anomalous appearance or structure of the surface of the glomerular basement membrane Anomalous appearance or structure of the surface of the glomerular basement membrane NOT_TRANSLATED -en nl HP:0000719 rdfs:label Inappropriate behavior Ongepast gedrag CANDIDATE -en nl HP:0033487 rdfs:label Glomerular basement membranes powdery deposit Glomerular basement membranes powdery deposit NOT_TRANSLATED -en nl HP:0033487 IAO:0000115 Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane NOT_TRANSLATED -en nl HP:0033488 rdfs:label Glomerular endocapillary leukocyte hypercellularity Glomerular endocapillary leukocyte hypercellularity NOT_TRANSLATED -en nl HP:0033488 IAO:0000115 Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries NOT_TRANSLATED -en nl HP:0000721 rdfs:label Lack of spontaneous play Gebrek aan spontaan spel CANDIDATE -en nl HP:0033489 rdfs:label Glomerular endocapillary neutrophil hypercellularity Glomerular endocapillary neutrophil hypercellularity NOT_TRANSLATED -en nl HP:0033489 IAO:0000115 Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries NOT_TRANSLATED -en nl HP:0000722 rdfs:label Obsessive-compulsive behavior Obsessief-compulsief gedrag CANDIDATE -en nl HP:0000722 IAO:0000115 Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV) Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV) NOT_TRANSLATED -en nl HP:0033490 rdfs:label Glomerular endocapillary foam-cell hypercellularity Glomerular endocapillary foam-cell hypercellularity NOT_TRANSLATED -en nl HP:0033490 IAO:0000115 Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space NOT_TRANSLATED -en nl HP:0000723 rdfs:label Restrictive behavior Beperkend gedrag CANDIDATE -en nl HP:0000723 IAO:0000115 Behavior characterized by an abnormal limitation to few interests and activities Behavior characterized by an abnormal limitation to few interests and activities NOT_TRANSLATED -en nl HP:0033491 rdfs:label Global mesangial sclerosis Global mesangial sclerosis NOT_TRANSLATED -en nl HP:0033491 IAO:0000115 A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity) A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity) NOT_TRANSLATED -en nl HP:0033492 rdfs:label Podocyte cytoskeletal condensation Podocyte cytoskeletal condensation NOT_TRANSLATED -en nl HP:0033492 IAO:0000115 Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte NOT_TRANSLATED -en nl HP:0000725 rdfs:label Psychotic episodes Psychotische episoden CANDIDATE -en nl HP:0033493 rdfs:label Mesangial matrix expansion Mesangial matrix expansion NOT_TRANSLATED -en nl HP:0033493 IAO:0000115 Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas NOT_TRANSLATED -en nl HP:0000726 rdfs:label Dementia Dementie CANDIDATE -en nl HP:0000726 IAO:0000115 A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior NOT_TRANSLATED -en nl HP:0033494 rdfs:label Glomerular basement membrane amyloid spicule Glomerular basement membrane amyloid spicule NOT_TRANSLATED -en nl HP:0033494 IAO:0000115 Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains NOT_TRANSLATED -en nl HP:0000727 rdfs:label Frontal lobe dementia Frontale kwab dementie CANDIDATE -en nl HP:0033495 rdfs:label Segmental glomerulosclerosis Segmental glomerulosclerosis NOT_TRANSLATED -en nl HP:0033495 IAO:0000115 Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule NOT_TRANSLATED -en nl HP:0000728 rdfs:label Impaired ability to form peer relationships Verminderde capaciteit om peer relaties te vormen CANDIDATE -en nl HP:0033496 rdfs:label Perihilar segmental glomerulosclerosis Perihilar segmental glomerulosclerosis NOT_TRANSLATED -en nl HP:0033496 IAO:0000115 Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule NOT_TRANSLATED -en nl HP:0000729 rdfs:label Autistic behavior Autistisch gedrag CANDIDATE -en nl HP:0000729 IAO:0000115 Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior NOT_TRANSLATED -en nl HP:0033497 rdfs:label Tip variant segmental glomerulosclerosis Tip variant segmental glomerulosclerosis NOT_TRANSLATED -en nl HP:0033497 IAO:0000115 Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed NOT_TRANSLATED -en nl HP:0033498 rdfs:label Segmental glomerulosclerosis away from the vascular and tubular poles Segmental glomerulosclerosis away from the vascular and tubular poles NOT_TRANSLATED -en nl HP:0033498 IAO:0000115 Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed NOT_TRANSLATED -en nl HP:0033499 rdfs:label Glomerular basement membrane electron dense deposits Glomerular basement membrane electron dense deposits NOT_TRANSLATED -en nl HP:0033499 IAO:0000115 Electron-dense deposits in the lamina densa with a ribbon or a sausage structure Electron-dense deposits in the lamina densa with a ribbon or a sausage structure NOT_TRANSLATED -en nl HP:0000732 rdfs:label Inflexible adherence to routines or rituals Rigide vasthouden aan routines of rituelen CANDIDATE -en nl HP:0033500 rdfs:label Subendothelial glomerular basement membrane electron dense deposits Subendothelial glomerular basement membrane electron dense deposits NOT_TRANSLATED -en nl HP:0033500 IAO:0000115 Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect NOT_TRANSLATED -en nl HP:0000733 rdfs:label Motor stereotypy Stereotypie CANDIDATE -en nl HP:0000733 IAO:0000115 A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral NOT_TRANSLATED -en nl HP:0033501 rdfs:label Subepithelial glomerular basement membrane electron dense deposits Subepithelial glomerular basement membrane electron dense deposits NOT_TRANSLATED -en nl HP:0033501 IAO:0000115 Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM NOT_TRANSLATED -en nl HP:0000734 rdfs:label Disinhibition Disinhibitie CANDIDATE -en nl HP:0000734 IAO:0000115 A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment NOT_TRANSLATED -en nl HP:0033502 rdfs:label Abnormal esterified to free carnitine ratio Abnormal esterified to free carnitine ratio NOT_TRANSLATED -en nl HP:0033502 IAO:0000115 Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine NOT_TRANSLATED -en nl HP:0000735 rdfs:label Impaired social interactions Verminderde sociale interacties CANDIDATE -en nl HP:0000735 IAO:0000115 Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships NOT_TRANSLATED -en nl HP:0033503 rdfs:label Elevated CSF fumarate concentration Elevated CSF fumarate concentration NOT_TRANSLATED -en nl HP:0033503 IAO:0000115 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid NOT_TRANSLATED -en nl HP:0000736 rdfs:label Short attention span Korte concentratieperiode CANDIDATE -en nl HP:0000736 IAO:0000115 Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder NOT_TRANSLATED -en nl HP:0033504 rdfs:label Elevated circulating fumarate concentration Elevated circulating fumarate concentration NOT_TRANSLATED -en nl HP:0033504 IAO:0000115 An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation NOT_TRANSLATED -en nl HP:0000737 rdfs:label Irritability Prikkelbaarheid CANDIDATE -en nl HP:0000737 IAO:0000115 A proneness to anger, i.e., a condition of being easily bothered or annoyed A proneness to anger, i.e., a condition of being easily bothered or annoyed NOT_TRANSLATED -en nl HP:0033505 rdfs:label Livedo reticularis Livedo reticularis NOT_TRANSLATED -en nl HP:0033505 IAO:0000115 Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension NOT_TRANSLATED -en nl HP:0000738 rdfs:label Hallucinations Hallucinaties CANDIDATE -en nl HP:0000738 IAO:0000115 Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space NOT_TRANSLATED -en nl HP:0033506 rdfs:label Increased esterified to free carnitine ratio Increased esterified to free carnitine ratio NOT_TRANSLATED -en nl HP:0033506 IAO:0000115 An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine NOT_TRANSLATED -en nl HP:0000739 rdfs:label Anxiety Angst CANDIDATE -en nl HP:0000739 IAO:0000115 Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control NOT_TRANSLATED -en nl HP:0033507 rdfs:label Decreased esterified to free carnitine ratio Decreased esterified to free carnitine ratio NOT_TRANSLATED -en nl HP:0033507 IAO:0000115 A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine NOT_TRANSLATED -en nl HP:0000740 rdfs:label Episodic paroxysmal anxiety Episodische paroxismale angst CANDIDATE -en nl HP:0000740 IAO:0000115 Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable NOT_TRANSLATED -en nl HP:0033508 rdfs:label EBV meningitis EBV meningitis NOT_TRANSLATED -en nl HP:0033508 IAO:0000115 Inflammation of the meninges related to infection by Epstein-Barr virus Inflammation of the meninges related to infection by Epstein-Barr virus NOT_TRANSLATED -en nl HP:0000741 rdfs:label Apathy Apathie CANDIDATE -en nl HP:0033509 rdfs:label EBV encephalitis EBV encephalitis NOT_TRANSLATED -en nl HP:0033509 IAO:0000115 Inflamation of the brain related to infection by Epstein-Barr virus Inflamation of the brain related to infection by Epstein-Barr virus NOT_TRANSLATED -en nl HP:0000742 rdfs:label Self-mutilation Zelfverminking CANDIDATE -en nl HP:0033510 rdfs:label Cutaneous horn Cutaneous horn NOT_TRANSLATED -en nl HP:0033510 IAO:0000115 A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin NOT_TRANSLATED -en nl HP:0000743 rdfs:label Frontal release signs Frontale kwab tekenen CANDIDATE -en nl HP:0000743 IAO:0000115 Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes NOT_TRANSLATED -en nl HP:0033511 rdfs:label Drug addiction Drug addiction NOT_TRANSLATED -en nl HP:0033511 IAO:0000115 Chronic compulsive drug seeking and continued use despite harmful consequences Chronic compulsive drug seeking and continued use despite harmful consequences NOT_TRANSLATED -en nl HP:0000744 rdfs:label Low frustration tolerance Geringe frustratie-tolerantie CANDIDATE -en nl HP:0000744 IAO:0000115 The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors NOT_TRANSLATED -en nl HP:0033512 rdfs:label Stimulant addiction Stimulant addiction NOT_TRANSLATED -en nl HP:0033512 IAO:0000115 Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing NOT_TRANSLATED -en nl HP:0000745 rdfs:label Diminished motivation Verminderde motivatie CANDIDATE -en nl HP:0000745 IAO:0000115 A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action NOT_TRANSLATED -en nl HP:0033513 rdfs:label Cocaine addiction Cocaine addiction NOT_TRANSLATED -en nl HP:0033513 IAO:0000115 Addiction to cocaine Addiction to cocaine NOT_TRANSLATED -en nl HP:0000746 rdfs:label Delusions Wanen CANDIDATE -en nl HP:0000746 IAO:0000115 A false belief that is held despite evidence to the contrary A false belief that is held despite evidence to the contrary NOT_TRANSLATED -en nl HP:0033514 rdfs:label Amphetamine addiction Amphetamine addiction NOT_TRANSLATED -en nl HP:0033514 IAO:0000115 Addiction to amphetamine or dextroamphetamine Addiction to amphetamine or dextroamphetamine NOT_TRANSLATED -en nl HP:0033515 rdfs:label Opioid addiction Opioid addiction NOT_TRANSLATED -en nl HP:0033515 IAO:0000115 Addiction to opioids Addiction to opioids NOT_TRANSLATED -en nl HP:0000748 rdfs:label Inappropriate laughter Ongepast gelach CANDIDATE -en nl HP:0033516 rdfs:label Benzodiazepine addiction Benzodiazepine addiction NOT_TRANSLATED -en nl HP:0033516 IAO:0000115 Addiction to a benzodiazepine Addiction to a benzodiazepine NOT_TRANSLATED -en nl HP:0000749 rdfs:label Paroxysmal bursts of laughter Paroxysmale uitbarstingen van gelach CANDIDATE -en nl HP:0033517 rdfs:label Heroin addiction Heroin addiction NOT_TRANSLATED -en nl HP:0033517 IAO:0000115 Addiction to heroin Addiction to heroin NOT_TRANSLATED -en nl HP:0000750 rdfs:label Delayed speech and language development Vertraagde spraak- en taal ontwikkeling CANDIDATE -en nl HP:0000750 IAO:0000115 A degree of language development that is significantly below the norm for a child of a specified age A degree of language development that is significantly below the norm for a child of a specified age NOT_TRANSLATED -en nl HP:0033518 rdfs:label Methylphenidate addiction Methylphenidate addiction NOT_TRANSLATED -en nl HP:0033518 IAO:0000115 Addiction to methylphenidate Addiction to methylphenidate NOT_TRANSLATED -en nl HP:0000751 rdfs:label Personality changes Veranderingen van de persoonlijkheid CANDIDATE -en nl HP:0000751 IAO:0000115 An abnormal shift in patterns of thinking, acting, or feeling An abnormal shift in patterns of thinking, acting, or feeling NOT_TRANSLATED -en nl HP:0033519 rdfs:label Methamphetamine addiction Methamphetamine addiction NOT_TRANSLATED -en nl HP:0033519 IAO:0000115 Addiction to methamphetamine Addiction to methamphetamine NOT_TRANSLATED -en nl HP:0000752 rdfs:label Hyperactivity Hyperactiviteit CANDIDATE -en nl HP:0000752 IAO:0000115 Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate NOT_TRANSLATED -en nl HP:0033520 rdfs:label Paradoxical embolism Paradoxical embolism NOT_TRANSLATED -en nl HP:0033520 IAO:0000115 Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke NOT_TRANSLATED -en nl HP:0000753 rdfs:label Autism with high cognitive abilities Autisme met hoge cognitieve capaciteiten CANDIDATE -en nl HP:0033521 rdfs:label Nasal dryness Nasal dryness NOT_TRANSLATED -en nl HP:0033521 IAO:0000115 A lack of humidification of the nasal mucosa A lack of humidification of the nasal mucosa NOT_TRANSLATED -en nl HP:0033522 rdfs:label Cerebral cavernous malformation Cerebral cavernous malformation NOT_TRANSLATED -en nl HP:0033522 IAO:0000115 A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries NOT_TRANSLATED -en nl HP:0033523 rdfs:label Abnormal sperm principal piece morphology Abnormal sperm principal piece morphology NOT_TRANSLATED -en nl HP:0033523 IAO:0000115 A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece NOT_TRANSLATED -en nl HP:0000756 rdfs:label Agoraphobia Agorafobie CANDIDATE -en nl HP:0000756 IAO:0000115 A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather NOT_TRANSLATED -en nl HP:0033524 rdfs:label Abnormal sperm axoneme morphology Abnormal sperm axoneme morphology NOT_TRANSLATED -en nl HP:0033524 IAO:0000115 Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC NOT_TRANSLATED -en nl HP:0000757 rdfs:label Lack of insight Gebrek aan inzicht CANDIDATE -en nl HP:0033525 rdfs:label Absent sperm axoneme central pair complex Absent sperm axoneme central pair complex NOT_TRANSLATED -en nl HP:0033525 IAO:0000115 Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern NOT_TRANSLATED -en nl HP:0000758 rdfs:label Abnormal nonverbal communicative behavior Verminderd gebruik van non-verbale gedragingen CANDIDATE -en nl HP:0000758 IAO:0000115 Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures NOT_TRANSLATED -en nl HP:0033526 rdfs:label Limited ankle dorsiflexion Limited ankle dorsiflexion NOT_TRANSLATED -en nl HP:0033526 IAO:0000115 Reduced ability to move the foot up toward the shin Reduced ability to move the foot up toward the shin NOT_TRANSLATED -en nl HP:0000759 rdfs:label Abnormal peripheral nervous system morphology Abnormale perifere zenuwstelsel morfologie CANDIDATE -en nl HP:0000759 IAO:0000115 A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system) A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system) NOT_TRANSLATED -en nl HP:0033527 rdfs:label Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio NOT_TRANSLATED -en nl HP:0033527 IAO:0000115 A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin) A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin) NOT_TRANSLATED -en nl HP:0033528 rdfs:label Abnormal cardiac output Abnormal cardiac output NOT_TRANSLATED -en nl HP:0033528 IAO:0000115 A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs NOT_TRANSLATED -en nl HP:0033529 rdfs:label Abnormal cardiac index Abnormal cardiac index NOT_TRANSLATED -en nl HP:0033529 IAO:0000115 Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area NOT_TRANSLATED -en nl HP:0000762 rdfs:label Decreased nerve conduction velocity Verminderde zenuwgeleidingssnelheid CANDIDATE -en nl HP:0000762 IAO:0000115 A reduction in the speed at which electrical signals propagate along the axon of a neuron A reduction in the speed at which electrical signals propagate along the axon of a neuron NOT_TRANSLATED -en nl HP:0033530 rdfs:label Increased cardiac index Increased cardiac index NOT_TRANSLATED -en nl HP:0033530 IAO:0000115 An elevated cardiac index, defined as cardiac output divided by body surface area An elevated cardiac index, defined as cardiac output divided by body surface area NOT_TRANSLATED -en nl HP:0000763 rdfs:label Sensory neuropathy Sensorische neuropathie CANDIDATE -en nl HP:0000763 IAO:0000115 Peripheral neuropathy affecting the sensory nerves Peripheral neuropathy affecting the sensory nerves NOT_TRANSLATED -en nl HP:0033531 rdfs:label Decreased cardiac index Decreased cardiac index NOT_TRANSLATED -en nl HP:0033531 IAO:0000115 A reduced cardiac index, defined as cardiac output divided by body surface area A reduced cardiac index, defined as cardiac output divided by body surface area NOT_TRANSLATED -en nl HP:0000764 rdfs:label Peripheral axonal degeneration Perifere axonale degeneratie CANDIDATE -en nl HP:0000764 IAO:0000115 Progressive deterioration of peripheral axons Progressive deterioration of peripheral axons NOT_TRANSLATED -en nl HP:0033532 rdfs:label Decreased cardiac output Decreased cardiac output NOT_TRANSLATED -en nl HP:0033532 IAO:0000115 A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat NOT_TRANSLATED -en nl HP:0000765 rdfs:label Abnormal thorax morphology Afwijking van de thorax CANDIDATE -en nl HP:0000765 IAO:0000115 Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs) Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs) NOT_TRANSLATED -en nl HP:0033533 rdfs:label Increased cardiac output Increased cardiac output NOT_TRANSLATED -en nl HP:0033533 IAO:0000115 An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat NOT_TRANSLATED -en nl HP:0000766 rdfs:label Abnormal sternum morphology Afwijking van het borstbeen CANDIDATE -en nl HP:0000766 IAO:0000115 An anomaly of the sternum, also known as the breastbone An anomaly of the sternum, also known as the breastbone NOT_TRANSLATED -en nl HP:0033534 rdfs:label Increased circulating brain natriuretic peptide concentration Increased circulating brain natriuretic peptide concentration NOT_TRANSLATED -en nl HP:0033534 IAO:0000115 An increased concentration of brain natriuretic peptide in the blood circulation An increased concentration of brain natriuretic peptide in the blood circulation NOT_TRANSLATED -en nl HP:0000767 rdfs:label Pectus excavatum Pectus excavatum CANDIDATE -en nl HP:0000767 IAO:0000115 "A defect of the chest wall characterized by a depression of the sternum, giving the chest (""pectus"") a caved-in (""excavatum"") appearance" "A defect of the chest wall characterized by a depression of the sternum, giving the chest (""pectus"") a caved-in (""excavatum"") appearance" NOT_TRANSLATED -en nl HP:0033535 rdfs:label Reduced platelet dense granules Reduced platelet dense granules NOT_TRANSLATED -en nl HP:0033535 IAO:0000115 Decreased number of platelet dense granules, a type of platelet organelle Decreased number of platelet dense granules, a type of platelet organelle NOT_TRANSLATED -en nl HP:0000768 rdfs:label Pectus carinatum Pectus carinatum CANDIDATE -en nl HP:0000768 IAO:0000115 A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum NOT_TRANSLATED -en nl HP:0033536 rdfs:label Reduced platelet alpha granules Reduced platelet alpha granules NOT_TRANSLATED -en nl HP:0033536 IAO:0000115 A reduced number of platelet alpha granules A reduced number of platelet alpha granules NOT_TRANSLATED -en nl HP:0000769 rdfs:label Abnormality of the breast Afwijking van de borst CANDIDATE -en nl HP:0000769 IAO:0000115 An abnormality of the breast An abnormality of the breast NOT_TRANSLATED -en nl HP:0033537 rdfs:label Mosaic pulmonary attenuation pattern Mosaic pulmonary attenuation pattern NOT_TRANSLATED -en nl HP:0033537 IAO:0000115 Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging NOT_TRANSLATED -en nl HP:0033538 rdfs:label Aortic annulus calcification Aortic annulus calcification NOT_TRANSLATED -en nl HP:0033538 IAO:0000115 Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract NOT_TRANSLATED -en nl HP:0000771 rdfs:label Gynecomastia Gynaecomastie CANDIDATE -en nl HP:0000771 IAO:0000115 Abnormal development of large mammary glands in males resulting in breast enlargement Abnormal development of large mammary glands in males resulting in breast enlargement NOT_TRANSLATED -en nl HP:0033539 rdfs:label Bilateral apical pulmonary fibrosis Bilateral apical pulmonary fibrosis NOT_TRANSLATED -en nl HP:0033539 IAO:0000115 A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray NOT_TRANSLATED -en nl HP:0000772 rdfs:label Abnormal rib morphology Afwijking van de ribben CANDIDATE -en nl HP:0000772 IAO:0000115 An anomaly of the rib An anomaly of the rib NOT_TRANSLATED -en nl HP:0033540 rdfs:label Reversible airflow obstruction Reversible airflow obstruction NOT_TRANSLATED -en nl HP:0033540 IAO:0000115 Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL NOT_TRANSLATED -en nl HP:0000773 rdfs:label Short ribs Korte ribben CANDIDATE -en nl HP:0000773 IAO:0000115 Reduced rib length Reduced rib length NOT_TRANSLATED -en nl HP:0033541 rdfs:label Irreversible airflow obstruction Irreversible airflow obstruction NOT_TRANSLATED -en nl HP:0033541 IAO:0000115 Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL NOT_TRANSLATED -en nl HP:0000774 rdfs:label Narrow chest Smalle borst CANDIDATE -en nl HP:0000774 IAO:0000115 Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder NOT_TRANSLATED -en nl HP:0033542 rdfs:label Bronchial wall thickening Bronchial wall thickening NOT_TRANSLATED -en nl HP:0033542 IAO:0000115 Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density NOT_TRANSLATED -en nl HP:0000775 rdfs:label Abnormality of the diaphragm Afwijking van het middenrif CANDIDATE -en nl HP:0000775 IAO:0000115 Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity NOT_TRANSLATED -en nl HP:0033543 rdfs:label Nicotine addiction Nicotine addiction NOT_TRANSLATED -en nl HP:0033543 IAO:0000115 Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences NOT_TRANSLATED -en nl HP:0000776 rdfs:label Congenital diaphragmatic hernia Aangeboren hernia diafragmatica CANDIDATE -en nl HP:0000776 IAO:0000115 The presence of a hernia of the diaphragm present at birth The presence of a hernia of the diaphragm present at birth NOT_TRANSLATED -en nl HP:0033544 rdfs:label Mesangial fibril deposition Mesangial fibril deposition NOT_TRANSLATED -en nl HP:0033544 IAO:0000115 Extracellular mesangial accumulation of slender proteinaceous fibers Extracellular mesangial accumulation of slender proteinaceous fibers NOT_TRANSLATED -en nl HP:0000777 rdfs:label Abnormality of the thymus Afwijking van de thymus CANDIDATE -en nl HP:0000777 IAO:0000115 Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation NOT_TRANSLATED -en nl HP:0033545 rdfs:label Mesangial fibrillary deposits Mesangial fibrillary deposits NOT_TRANSLATED -en nl HP:0033545 IAO:0000115 Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material NOT_TRANSLATED -en nl HP:0000778 rdfs:label Hypoplasia of the thymus Hypoplasie van de thymus CANDIDATE -en nl HP:0000778 IAO:0000115 Underdevelopment of the thymus Underdevelopment of the thymus NOT_TRANSLATED -en nl HP:0033546 rdfs:label Mesangial microfibril deposition Mesangial microfibril deposition NOT_TRANSLATED -en nl HP:0033546 IAO:0000115 Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins NOT_TRANSLATED -en nl HP:0033547 rdfs:label Mesangial immunotactoid deposits Mesangial immunotactoid deposits NOT_TRANSLATED -en nl HP:0033547 IAO:0000115 Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination NOT_TRANSLATED -en nl HP:0033548 rdfs:label Mesangial amyloid deposition Mesangial amyloid deposition NOT_TRANSLATED -en nl HP:0033548 IAO:0000115 Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass NOT_TRANSLATED -en nl HP:0033549 rdfs:label Nodular mesangiosclerosis Nodular mesangiosclerosis NOT_TRANSLATED -en nl HP:0033549 IAO:0000115 Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei NOT_TRANSLATED -en nl HP:0000782 rdfs:label Abnormal scapula morphology Afwijking van het schouderblad CANDIDATE -en nl HP:0000782 IAO:0000115 Any abnormality of the scapula, also known as the shoulder blade Any abnormality of the scapula, also known as the shoulder blade NOT_TRANSLATED -en nl HP:0033550 rdfs:label Necrotizing pulmonary granulomatosis Necrotizing pulmonary granulomatosis NOT_TRANSLATED -en nl HP:0033550 IAO:0000115 A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese NOT_TRANSLATED -en nl HP:0033551 rdfs:label Non-necrotizing pulmonary granulomatosis Non-necrotizing pulmonary granulomatosis NOT_TRANSLATED -en nl HP:0033551 IAO:0000115 A granuloma located in the lung that is not associated with necrotic changes A granuloma located in the lung that is not associated with necrotic changes NOT_TRANSLATED -en nl HP:0033552 rdfs:label Chronic villitis Chronic villitis NOT_TRANSLATED -en nl HP:0033552 IAO:0000115 Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis NOT_TRANSLATED -en nl HP:0033553 rdfs:label Septic embolism Septic embolism NOT_TRANSLATED -en nl HP:0033553 IAO:0000115 Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system NOT_TRANSLATED -en nl HP:0000786 rdfs:label Primary amenorrhea Primaire amenorroe CANDIDATE -en nl HP:0033554 rdfs:label Anti-Mi2 antibody positivity Anti-Mi2 antibody positivity NOT_TRANSLATED -en nl HP:0033554 IAO:0000115 The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen NOT_TRANSLATED -en nl HP:0000787 rdfs:label Nephrolithiasis Nefrolithiase CANDIDATE -en nl HP:0000787 IAO:0000115 The presence of calculi (stones) in the kidneys The presence of calculi (stones) in the kidneys NOT_TRANSLATED -en nl HP:0033555 rdfs:label Anti-Ro/SS-A antibody positivity Anti-Ro/SS-A antibody positivity NOT_TRANSLATED -en nl HP:0033555 IAO:0000115 The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens NOT_TRANSLATED -en nl HP:0033556 rdfs:label Anti-nucleoporin 62 antibody positivity Anti-nucleoporin 62 antibody positivity NOT_TRANSLATED -en nl HP:0033556 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62 The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62 NOT_TRANSLATED -en nl HP:0000789 rdfs:label Infertility Onvruchtbaarheid CANDIDATE -en nl HP:0033557 rdfs:label Anti-proteinase 3 antibody positivity Anti-proteinase 3 antibody positivity NOT_TRANSLATED -en nl HP:0033557 IAO:0000115 The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils NOT_TRANSLATED -en nl HP:0000790 rdfs:label Hematuria Hematurie CANDIDATE -en nl HP:0000790 IAO:0000115 The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine) The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine) NOT_TRANSLATED -en nl HP:0033558 rdfs:label Anti-histone antibody positivity Anti-histone antibody positivity NOT_TRANSLATED -en nl HP:0033558 IAO:0000115 The presence of autoantibodies in the blood circulation that react against histone antigens The presence of autoantibodies in the blood circulation that react against histone antigens NOT_TRANSLATED -en nl HP:0000791 rdfs:label Uric acid nephrolithiasis Urinezuur nefrolithiase CANDIDATE -en nl HP:0000791 IAO:0000115 The presence of uric acid-containing calculi (stones) in the kidneys The presence of uric acid-containing calculi (stones) in the kidneys NOT_TRANSLATED -en nl HP:0033559 rdfs:label Anti-myeloperoxidase antibody positivity Anti-myeloperoxidase antibody positivity NOT_TRANSLATED -en nl HP:0033559 IAO:0000115 The presence of autoantibodies in the blood circulation that react against myeloperoxidase The presence of autoantibodies in the blood circulation that react against myeloperoxidase NOT_TRANSLATED -en nl HP:0033560 rdfs:label Anti-PM-Scl antibody positivity Anti-PM-Scl antibody positivity NOT_TRANSLATED -en nl HP:0033560 IAO:0000115 Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40 Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40 NOT_TRANSLATED -en nl HP:0000793 rdfs:label Membranoproliferative glomerulonephritis Membranoproliferatieve glomerulonefritis CANDIDATE -en nl HP:0000793 IAO:0000115 A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity NOT_TRANSLATED -en nl HP:0033561 rdfs:label Anti-bactericidal/permeability-increasing protein antibody positivity Anti-bactericidal/permeability-increasing protein antibody positivity NOT_TRANSLATED -en nl HP:0033561 IAO:0000115 The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies NOT_TRANSLATED -en nl HP:0000794 rdfs:label IgA deposition in the glomerulus IgA afzetting in de glomerulus CANDIDATE -en nl HP:0000794 IAO:0000115 The presence of immunoglobulin A deposits in the glomerulus The presence of immunoglobulin A deposits in the glomerulus NOT_TRANSLATED -en nl HP:0033562 rdfs:label Anti-glycoprotein-210 antibody positivity Anti-glycoprotein-210 antibody positivity NOT_TRANSLATED -en nl HP:0033562 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210 The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210 NOT_TRANSLATED -en nl HP:0000795 rdfs:label Abnormality of the urethra Afwijking van de urinebuis CANDIDATE -en nl HP:0000795 IAO:0000115 An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body NOT_TRANSLATED -en nl HP:0033563 rdfs:label Anti-tissue transglutaminase antibody positivity Anti-tissue transglutaminase antibody positivity NOT_TRANSLATED -en nl HP:0033563 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase NOT_TRANSLATED -en nl HP:0000796 rdfs:label Urethral obstruction Urethrale obstakel CANDIDATE -en nl HP:0000796 IAO:0000115 Obstruction of the flow of urine through the urethra Obstruction of the flow of urine through the urethra NOT_TRANSLATED -en nl HP:0033564 rdfs:label Stasis dermatitis Stasis dermatitis NOT_TRANSLATED -en nl HP:0033564 IAO:0000115 Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus NOT_TRANSLATED -en nl HP:0033565 rdfs:label Anti-epidermal transglutaminase antibody positivity Anti-epidermal transglutaminase antibody positivity NOT_TRANSLATED -en nl HP:0033565 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase NOT_TRANSLATED -en nl HP:0000798 rdfs:label Oligospermia Oligospermie CANDIDATE -en nl HP:0000798 IAO:0000115 Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen NOT_TRANSLATED -en nl HP:0033566 rdfs:label Abnormal ventricular axis Abnormal ventricular axis NOT_TRANSLATED -en nl HP:0033566 IAO:0000115 Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization NOT_TRANSLATED -en nl HP:0000799 rdfs:label Renal steatosis Renale steatose CANDIDATE -en nl HP:0000799 IAO:0000115 Abnormal fat accumulation in the kidneys Abnormal fat accumulation in the kidneys NOT_TRANSLATED -en nl HP:0033567 rdfs:label Right axis deviation Right axis deviation NOT_TRANSLATED -en nl HP:0033567 IAO:0000115 A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used NOT_TRANSLATED -en nl HP:0000800 rdfs:label Cystic renal dysplasia Cysteuze renale dysplasie CANDIDATE -en nl HP:0033568 rdfs:label Left axis deviation Left axis deviation NOT_TRANSLATED -en nl HP:0033568 IAO:0000115 A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees NOT_TRANSLATED -en nl HP:0033569 rdfs:label Extreme axis deviation Extreme axis deviation NOT_TRANSLATED -en nl HP:0033569 IAO:0000115 A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right NOT_TRANSLATED -en nl HP:0000802 rdfs:label Impotence Impotentie CANDIDATE -en nl HP:0000802 IAO:0000115 Inability to develop or maintain an erection of the penis Inability to develop or maintain an erection of the penis NOT_TRANSLATED -en nl HP:0033570 rdfs:label Indeterminate ventricular axis Indeterminate ventricular axis NOT_TRANSLATED -en nl HP:0033570 IAO:0000115 A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection NOT_TRANSLATED -en nl HP:0000803 rdfs:label Renal cortical cysts Renale corticale cysten CANDIDATE -en nl HP:0000803 IAO:0000115 Cysts of the cortex of the kidney Cysts of the cortex of the kidney NOT_TRANSLATED -en nl HP:0033571 rdfs:label Peripheral lung neovascularity Peripheral lung neovascularity NOT_TRANSLATED -en nl HP:0033571 IAO:0000115 The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy NOT_TRANSLATED -en nl HP:0000804 rdfs:label Xanthine nephrolithiasis Xanthine nefrolithiase CANDIDATE -en nl HP:0000804 IAO:0000115 The presence of xanthine-containing calculi (stones) in the kidneys The presence of xanthine-containing calculi (stones) in the kidneys NOT_TRANSLATED -en nl HP:0033572 rdfs:label Anti-H1 antibody positivity Anti-H1 antibody positivity NOT_TRANSLATED -en nl HP:0033572 IAO:0000115 The presence of autoantibodies in the blood circulation that react against histone H1 The presence of autoantibodies in the blood circulation that react against histone H1 NOT_TRANSLATED -en nl HP:0000805 rdfs:label Enuresis Enurese CANDIDATE -en nl HP:0000805 IAO:0000115 Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible NOT_TRANSLATED -en nl HP:0033573 rdfs:label Anti-H4 antibody positivity Anti-H4 antibody positivity NOT_TRANSLATED -en nl HP:0033573 IAO:0000115 The presence of autoantibodies in the blood circulation that react against histone H4 The presence of autoantibodies in the blood circulation that react against histone H4 NOT_TRANSLATED -en nl HP:0033574 rdfs:label Anti-H3 antibody positivity Anti-H3 antibody positivity NOT_TRANSLATED -en nl HP:0033574 IAO:0000115 The presence of autoantibodies in the blood circulation that react against histone H3 The presence of autoantibodies in the blood circulation that react against histone H3 NOT_TRANSLATED -en nl HP:0000807 rdfs:label Glandular hypospadias Klierweefsel hypospadie CANDIDATE -en nl HP:0033575 rdfs:label Anti-H2A antibody positivity Anti-H2A antibody positivity NOT_TRANSLATED -en nl HP:0033575 IAO:0000115 The presence of autoantibodies in the blood circulation that react against histone H2A The presence of autoantibodies in the blood circulation that react against histone H2A NOT_TRANSLATED -en nl HP:0000808 rdfs:label Penoscrotal hypospadias Penoscrotale hypospadie CANDIDATE -en nl HP:0000808 IAO:0000115 A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum NOT_TRANSLATED -en nl HP:0033576 rdfs:label Anti-H2B antibody positivity Anti-H2B antibody positivity NOT_TRANSLATED -en nl HP:0033576 IAO:0000115 The presence of autoantibodies in the blood circulation that react against histone H2B The presence of autoantibodies in the blood circulation that react against histone H2B NOT_TRANSLATED -en nl HP:0000809 rdfs:label Urinary tract atresia Atresie van de urinewegen CANDIDATE -en nl HP:0000809 IAO:0000115 Congenital absence of the normal opening of a structure of the urinary tract Congenital absence of the normal opening of a structure of the urinary tract NOT_TRANSLATED -en nl HP:0033577 rdfs:label In situ pulmonary artery thrombosis In situ pulmonary artery thrombosis NOT_TRANSLATED -en nl HP:0033577 IAO:0000115 Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease NOT_TRANSLATED -en nl HP:0033578 rdfs:label Pre-capillary pulmonary hypertension Pre-capillary pulmonary hypertension NOT_TRANSLATED -en nl HP:0033578 IAO:0000115 Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) NOT_TRANSLATED -en nl HP:0000811 rdfs:label Abnormal external genitalia Abnormale externe genitaliën CANDIDATE -en nl HP:0033579 rdfs:label Decreased growth hormone responses to growth hormone-releasing hormone challenge Decreased growth hormone responses to growth hormone-releasing hormone challenge NOT_TRANSLATED -en nl HP:0033579 IAO:0000115 Insufficient growth hormone secretion following administration of growth hormone-releasing hormone Insufficient growth hormone secretion following administration of growth hormone-releasing hormone NOT_TRANSLATED -en nl HP:0000812 rdfs:label Abnormal internal genitalia Abnormale interne genitaliën CANDIDATE -en nl HP:0000812 IAO:0000115 An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male) An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male) NOT_TRANSLATED -en nl HP:0033580 rdfs:label Compound motor action potential abnormality Compound motor action potential abnormality NOT_TRANSLATED -en nl HP:0033580 IAO:0000115 An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) NOT_TRANSLATED -en nl HP:0000813 rdfs:label Bicornuate uterus Y-vormige baarmoeder CANDIDATE -en nl HP:0000813 IAO:0000115 The presence of a bicornuate uterus The presence of a bicornuate uterus NOT_TRANSLATED -en nl HP:0033581 rdfs:label Absent peripheral lymph nodes in presence of infection Absent peripheral lymph nodes in presence of infection NOT_TRANSLATED -en nl HP:0033581 IAO:0000115 The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases NOT_TRANSLATED -en nl HP:0033582 rdfs:label Pulmonary interstitial lymphocyte infiltration Pulmonary interstitial lymphocyte infiltration NOT_TRANSLATED -en nl HP:0033582 IAO:0000115 Abnormal accumulation of lymphocytes in the interstitium of the lung Abnormal accumulation of lymphocytes in the interstitium of the lung NOT_TRANSLATED -en nl HP:0000815 rdfs:label Hypergonadotropic hypogonadism Hypergonadotrope hypogonadisme CANDIDATE -en nl HP:0000815 IAO:0000115 Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay NOT_TRANSLATED -en nl HP:0033583 rdfs:label Follicular bronchiolitis Follicular bronchiolitis NOT_TRANSLATED -en nl HP:0033583 IAO:0000115 Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways NOT_TRANSLATED -en nl HP:0000816 rdfs:label Abnormality of Krebs cycle metabolism Afwijking van citroenzuurcyclus metabolisme CANDIDATE -en nl HP:0000816 IAO:0000115 An abnormality of the tricarboxylic acid cycle An abnormality of the tricarboxylic acid cycle NOT_TRANSLATED -en nl HP:0033584 rdfs:label Nonspecific interstitial pneumonia Nonspecific interstitial pneumonia NOT_TRANSLATED -en nl HP:0033584 IAO:0000115 Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa NOT_TRANSLATED -en nl HP:0000817 rdfs:label Poor eye contact Slecht oogcontact CANDIDATE -en nl HP:0000817 IAO:0000115 Difficulty in looking at another person in the eye Difficulty in looking at another person in the eye NOT_TRANSLATED -en nl HP:0033585 rdfs:label Fibrotic non-specific interstitial pneumonia Fibrotic non-specific interstitial pneumonia NOT_TRANSLATED -en nl HP:0033585 IAO:0000115 A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation NOT_TRANSLATED -en nl HP:0000818 rdfs:label Abnormality of the endocrine system Afwijking van het endocriene systeem CANDIDATE -en nl HP:0000818 IAO:0000115 An abnormality of the endocrine system An abnormality of the endocrine system NOT_TRANSLATED -en nl HP:0033586 rdfs:label Cellular non-specific interstitial pneumonia Cellular non-specific interstitial pneumonia NOT_TRANSLATED -en nl HP:0033586 IAO:0000115 A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia NOT_TRANSLATED -en nl HP:0000819 rdfs:label Diabetes mellitus Diabetes mellitus CANDIDATE -en nl HP:0000819 IAO:0000115 A group of abnormalities characterized by hyperglycemia and glucose intolerance A group of abnormalities characterized by hyperglycemia and glucose intolerance NOT_TRANSLATED -en nl HP:0033587 rdfs:label Vulvar abscess Vulvar abscess NOT_TRANSLATED -en nl HP:0033587 IAO:0000115 A circumscribed area of pus or necrotic debris in the vulvar region A circumscribed area of pus or necrotic debris in the vulvar region NOT_TRANSLATED -en nl HP:0000820 rdfs:label Abnormality of the thyroid gland Afwijking van de schildklier CANDIDATE -en nl HP:0000820 IAO:0000115 An abnormality of the thyroid gland An abnormality of the thyroid gland NOT_TRANSLATED -en nl HP:0033588 rdfs:label Labial adhesion Labial adhesion NOT_TRANSLATED -en nl HP:0033588 IAO:0000115 Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline NOT_TRANSLATED -en nl HP:0000821 rdfs:label Hypothyroidism Hypothyreoïdie CANDIDATE -en nl HP:0000821 IAO:0000115 Deficiency of thyroid hormone Deficiency of thyroid hormone NOT_TRANSLATED -en nl HP:0033589 rdfs:label Flatulence Flatulence NOT_TRANSLATED -en nl HP:0033589 IAO:0000115 Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating NOT_TRANSLATED -en nl HP:0000822 rdfs:label Hypertension Hypertensie CANDIDATE -en nl HP:0000822 IAO:0000115 The presence of chronic increased pressure in the systemic arterial system The presence of chronic increased pressure in the systemic arterial system NOT_TRANSLATED -en nl HP:0033590 rdfs:label Inguinal abscess Inguinal abscess NOT_TRANSLATED -en nl HP:0033590 IAO:0000115 A circumscribed area of pus or necrotic debris in the groin (inguinal region) A circumscribed area of pus or necrotic debris in the groin (inguinal region) NOT_TRANSLATED -en nl HP:0000823 rdfs:label Delayed puberty Vertraagde puberteit CANDIDATE -en nl HP:0000823 IAO:0000115 Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty NOT_TRANSLATED -en nl HP:0033591 rdfs:label Staghorn calculus Staghorn calculus NOT_TRANSLATED -en nl HP:0033591 IAO:0000115 Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system NOT_TRANSLATED -en nl HP:0000824 rdfs:label Decreased response to growth hormone stimulation test Groeihormoon gebrek CANDIDATE -en nl HP:0000824 IAO:0000115 Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests NOT_TRANSLATED -en nl HP:0033592 rdfs:label Anti-H3-H4 antibody positivity Anti-H3-H4 antibody positivity NOT_TRANSLATED -en nl HP:0033592 IAO:0000115 The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer NOT_TRANSLATED -en nl HP:0000825 rdfs:label Hyperinsulinemic hypoglycemia Hyperinsulinemische hypoglykemie CANDIDATE -en nl HP:0000825 IAO:0000115 An increased concentration of insulin combined with a decreased concentration of glucose in the blood An increased concentration of insulin combined with a decreased concentration of glucose in the blood NOT_TRANSLATED -en nl HP:0033593 rdfs:label Anti-H2A-H2B antibody positivity Anti-H2A-H2B antibody positivity NOT_TRANSLATED -en nl HP:0033593 IAO:0000115 The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer NOT_TRANSLATED -en nl HP:0000826 rdfs:label Precocious puberty Pubertas praecox CANDIDATE -en nl HP:0000826 IAO:0000115 The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys NOT_TRANSLATED -en nl HP:0033594 rdfs:label Elevated urinary 7-biopterin level Elevated urinary 7-biopterin level NOT_TRANSLATED -en nl HP:0033594 IAO:0000115 An abnormally increased amount of 7-biopterin in the urine An abnormally increased amount of 7-biopterin in the urine NOT_TRANSLATED -en nl HP:0033595 rdfs:label Elevated circulating globotriaosylceramide concentration Elevated circulating globotriaosylceramide concentration NOT_TRANSLATED -en nl HP:0033595 IAO:0000115 Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease NOT_TRANSLATED -en nl HP:0000828 rdfs:label Abnormality of the parathyroid gland Afwijkingen van de bijschildklier CANDIDATE -en nl HP:0000828 IAO:0000115 An abnormality of the parathyroid gland An abnormality of the parathyroid gland NOT_TRANSLATED -en nl HP:0033596 rdfs:label Elevated urinary 3-methylcrotonylglycine level Elevated urinary 3-methylcrotonylglycine level NOT_TRANSLATED -en nl HP:0033596 IAO:0000115 An abnormally increased amount of 3-methylcrotonylglycine in the urine An abnormally increased amount of 3-methylcrotonylglycine in the urine NOT_TRANSLATED -en nl HP:0000829 rdfs:label Hypoparathyroidism Hypoparathyroïdisme CANDIDATE -en nl HP:0000829 IAO:0000115 A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia NOT_TRANSLATED -en nl HP:0033597 rdfs:label Decreased mucosal sucrase-isomaltase activity Decreased mucosal sucrase-isomaltase activity NOT_TRANSLATED -en nl HP:0033597 IAO:0000115 Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi NOT_TRANSLATED -en nl HP:0000830 rdfs:label Anterior hypopituitarism Anterior hypopituïtarisme CANDIDATE -en nl HP:0000830 IAO:0000115 A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone NOT_TRANSLATED -en nl HP:0033598 rdfs:label Fibrillar glomerular subepithelial deposits Fibrillar glomerular subepithelial deposits NOT_TRANSLATED -en nl HP:0033598 IAO:0000115 Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) NOT_TRANSLATED -en nl HP:0000831 rdfs:label Insulin-resistant diabetes mellitus Insuline-resistente diabetes mellitus CANDIDATE -en nl HP:0000831 IAO:0000115 A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels NOT_TRANSLATED -en nl HP:0033599 rdfs:label Glomerular amyloid subepithelial deposits Glomerular amyloid subepithelial deposits NOT_TRANSLATED -en nl HP:0033599 IAO:0000115 A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED -en nl HP:0000832 rdfs:label Primary hypothyroidism Primaire hypothyreoïdisme CANDIDATE -en nl HP:0000832 IAO:0000115 A type of hypothyroidism that results from a defect in the thyroid gland A type of hypothyroidism that results from a defect in the thyroid gland NOT_TRANSLATED -en nl HP:0033600 rdfs:label Fibrillary glomerular subepithelial deposits Fibrillary glomerular subepithelial deposits NOT_TRANSLATED -en nl HP:0033600 IAO:0000115 A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED -en nl HP:0033601 rdfs:label Glomerular subepithelial immune-complex deposits Glomerular subepithelial immune-complex deposits NOT_TRANSLATED -en nl HP:0033601 IAO:0000115 A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED -en nl HP:0000834 rdfs:label Abnormality of the adrenal glands Afwijking van de bijnieren CANDIDATE -en nl HP:0000834 IAO:0000115 Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys NOT_TRANSLATED -en nl HP:0033602 rdfs:label Glomerular hyaline subepithelial deposits Glomerular hyaline subepithelial deposits NOT_TRANSLATED -en nl HP:0033602 IAO:0000115 A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED -en nl HP:0000835 rdfs:label Adrenal hypoplasia Bijnier hypoplasie CANDIDATE -en nl HP:0000835 IAO:0000115 Developmental hypoplasia of the adrenal glands Developmental hypoplasia of the adrenal glands NOT_TRANSLATED -en nl HP:0033603 rdfs:label Glomerular subepithelial deposits Glomerular subepithelial deposits NOT_TRANSLATED -en nl HP:0033603 IAO:0000115 Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED -en nl HP:0000836 rdfs:label Hyperthyroidism Hyperthyreoïdie CANDIDATE -en nl HP:0000836 IAO:0000115 An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3) An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3) NOT_TRANSLATED -en nl HP:0033604 rdfs:label Glomerular capillary wire loop deposits Glomerular capillary wire loop deposits NOT_TRANSLATED -en nl HP:0033604 IAO:0000115 Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop NOT_TRANSLATED -en nl HP:0000837 rdfs:label Increased circulating gonadotropin level Toegenomen circulerend gonadotropine niveau CANDIDATE -en nl HP:0000837 IAO:0000115 Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland NOT_TRANSLATED -en nl HP:0033605 rdfs:label Pustular rash Pustular rash NOT_TRANSLATED -en nl HP:0033605 IAO:0000115 A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils NOT_TRANSLATED -en nl HP:0033606 rdfs:label Bone marrow maturation arrest Bone marrow maturation arrest NOT_TRANSLATED -en nl HP:0033606 IAO:0000115 Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow NOT_TRANSLATED -en nl HP:0000839 rdfs:label Pituitary dwarfism Hypofyse dwerggroei CANDIDATE -en nl HP:0000839 IAO:0000115 A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones NOT_TRANSLATED -en nl HP:0033607 rdfs:label Bone marrow arrest at the promyelocytic stage Bone marrow arrest at the promyelocytic stage NOT_TRANSLATED -en nl HP:0033607 IAO:0000115 A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow NOT_TRANSLATED -en nl HP:0000840 rdfs:label Adrenogenital syndrome Adrenogenitaal syndroom CANDIDATE -en nl HP:0000840 IAO:0000115 Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects NOT_TRANSLATED -en nl HP:0033608 rdfs:label Pulmonary nodule Pulmonary nodule NOT_TRANSLATED -en nl HP:0033608 IAO:0000115 Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging NOT_TRANSLATED -en nl HP:0000841 rdfs:label Hyperactive renin-angiotensin system Hyperactieve renine-angiotensine systeem CANDIDATE -en nl HP:0000841 IAO:0000115 An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms NOT_TRANSLATED -en nl HP:0033609 rdfs:label Solid pulmonary nodule Solid pulmonary nodule NOT_TRANSLATED -en nl HP:0033609 IAO:0000115 "A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a ""solid"" appearance" "A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a ""solid"" appearance" NOT_TRANSLATED -en nl HP:0000842 rdfs:label Hyperinsulinemia Hyperinsulinemie CANDIDATE -en nl HP:0000842 IAO:0000115 An increased concentration of insulin in the blood An increased concentration of insulin in the blood NOT_TRANSLATED -en nl HP:0033610 rdfs:label Subsolid pulmonary nodule Subsolid pulmonary nodule NOT_TRANSLATED -en nl HP:0033610 IAO:0000115 Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention NOT_TRANSLATED -en nl HP:0000843 rdfs:label Hyperparathyroidism Hyperparathyroïdie CANDIDATE -en nl HP:0000843 IAO:0000115 Excessive production of parathyroid hormone (PTH) by the parathyroid glands Excessive production of parathyroid hormone (PTH) by the parathyroid glands NOT_TRANSLATED -en nl HP:0033611 rdfs:label Part-solid pulmonary nodule Part-solid pulmonary nodule NOT_TRANSLATED -en nl HP:0033611 IAO:0000115 Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized NOT_TRANSLATED -en nl HP:0033612 rdfs:label Pure ground-glass pulmonary nodule Pure ground-glass pulmonary nodule NOT_TRANSLATED -en nl HP:0033612 IAO:0000115 Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed NOT_TRANSLATED -en nl HP:0000845 rdfs:label Elevated circulating growth hormone concentration Groeihormoon overmaat CANDIDATE -en nl HP:0000845 IAO:0000115 Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness NOT_TRANSLATED -en nl HP:0033613 rdfs:label Perifissural pulmonary nodule Perifissural pulmonary nodule NOT_TRANSLATED -en nl HP:0033613 IAO:0000115 Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes NOT_TRANSLATED -en nl HP:0000846 rdfs:label Adrenal insufficiency Bijnier insufficiëntie CANDIDATE -en nl HP:0000846 IAO:0000115 Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands NOT_TRANSLATED -en nl HP:0033614 rdfs:label Tracheal bronchus Tracheal bronchus NOT_TRANSLATED -en nl HP:0033614 IAO:0000115 Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced NOT_TRANSLATED -en nl HP:0000847 rdfs:label Abnormality of renin-angiotensin system Afwijking van renine-angiotensine systeem CANDIDATE -en nl HP:0000847 IAO:0000115 An abnormality of the renin-angiotensin system An abnormality of the renin-angiotensin system NOT_TRANSLATED -en nl HP:0033615 rdfs:label Displaced tracheal bronchus Displaced tracheal bronchus NOT_TRANSLATED -en nl HP:0033615 IAO:0000115 Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus NOT_TRANSLATED -en nl HP:0000848 rdfs:label Increased circulating renin level Toegenomen circulerend renine-niveau CANDIDATE -en nl HP:0000848 IAO:0000115 An increased level of renin in the blood An increased level of renin in the blood NOT_TRANSLATED -en nl HP:0033616 rdfs:label Accessory cardiac bronchus Accessory cardiac bronchus NOT_TRANSLATED -en nl HP:0033616 IAO:0000115 Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended NOT_TRANSLATED -en nl HP:0000849 rdfs:label Adrenocortical abnormality Afwijking van de bijnierschors CANDIDATE -en nl HP:0033617 rdfs:label Supernumerary tracheal bronchus Supernumerary tracheal bronchus NOT_TRANSLATED -en nl HP:0033617 IAO:0000115 Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus NOT_TRANSLATED -en nl HP:0033618 rdfs:label Displaced lobar tracheal bronchus Displaced lobar tracheal bronchus NOT_TRANSLATED -en nl HP:0033618 IAO:0000115 Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus NOT_TRANSLATED -en nl HP:0000851 rdfs:label Congenital hypothyroidism Congenitale hypothyreoïdie CANDIDATE -en nl HP:0000851 IAO:0000115 A type of hypothyroidism with congenital onset A type of hypothyroidism with congenital onset NOT_TRANSLATED -en nl HP:0033619 rdfs:label Typical perifissural nodule Typical perifissural nodule NOT_TRANSLATED -en nl HP:0033619 IAO:0000115 A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical) A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical) NOT_TRANSLATED -en nl HP:0000852 rdfs:label Pseudohypoparathyroidism Pseudohypoparathyroidisme CANDIDATE -en nl HP:0000852 IAO:0000115 A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone NOT_TRANSLATED -en nl HP:0033620 rdfs:label Atypical perifissural nodule Atypical perifissural nodule NOT_TRANSLATED -en nl HP:0033620 IAO:0000115 A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical) A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical) NOT_TRANSLATED -en nl HP:0000853 rdfs:label Goiter Struma CANDIDATE -en nl HP:0000853 IAO:0000115 An enlargement of the thyroid gland An enlargement of the thyroid gland NOT_TRANSLATED -en nl HP:0033621 rdfs:label Bronchial diverticula Bronchial diverticula NOT_TRANSLATED -en nl HP:0033621 IAO:0000115 Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum NOT_TRANSLATED -en nl HP:0000854 rdfs:label Thyroid adenoma Schildklier adenoom CANDIDATE -en nl HP:0000854 IAO:0000115 The presence of a adenoma of the thyroid gland The presence of a adenoma of the thyroid gland NOT_TRANSLATED -en nl HP:0033622 rdfs:label Migratory erythematous plaque Migratory erythematous plaque NOT_TRANSLATED -en nl HP:0033622 IAO:0000115 A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin NOT_TRANSLATED -en nl HP:0000855 rdfs:label Insulin resistance Insulineresistentie CANDIDATE -en nl HP:0000855 IAO:0000115 Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels NOT_TRANSLATED -en nl HP:0033623 rdfs:label Birth history Birth history NOT_TRANSLATED -en nl HP:0033623 IAO:0000115 Information about the delivery and health status at birth typically elicited as a part of the past medical history Information about the delivery and health status at birth typically elicited as a part of the past medical history NOT_TRANSLATED -en nl HP:0033624 rdfs:label History of congenital CMV infection History of congenital CMV infection NOT_TRANSLATED -en nl HP:0033624 IAO:0000115 A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits NOT_TRANSLATED -en nl HP:0000857 rdfs:label Neonatal insulin-dependent diabetes mellitus Neonatale insuline-afhankelijke diabetes mellitus CANDIDATE -en nl HP:0033625 rdfs:label Emotional insecurity Emotional insecurity NOT_TRANSLATED -en nl HP:0033625 IAO:0000115 A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening NOT_TRANSLATED -en nl HP:0000858 rdfs:label Irregular menstruation Menstruele onregelmatigheden CANDIDATE -en nl HP:0000858 IAO:0000115 Abnormally high variation in the amount of time between periods Abnormally high variation in the amount of time between periods NOT_TRANSLATED -en nl HP:0033626 rdfs:label Increased non-HDL cholesterol concentration Increased non-HDL cholesterol concentration NOT_TRANSLATED -en nl HP:0033626 IAO:0000115 Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol) Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol) NOT_TRANSLATED -en nl HP:0000859 rdfs:label Hyperaldosteronism Hyperaldosteronisme CANDIDATE -en nl HP:0000859 IAO:0000115 Overproduction of the mineralocorticoid aldosterone by the adrenal cortex Overproduction of the mineralocorticoid aldosterone by the adrenal cortex NOT_TRANSLATED -en nl HP:0033627 rdfs:label Increased urine harderoporphyrin level Increased urine harderoporphyrin level NOT_TRANSLATED -en nl HP:0033627 IAO:0000115 Increased amount of harderoporphyrin in the urine Increased amount of harderoporphyrin in the urine NOT_TRANSLATED -en nl HP:0000860 rdfs:label Parathyroid hypoplasia Parathyroide hypoplasie CANDIDATE -en nl HP:0000860 IAO:0000115 Developmental hypoplasia of the parathyroid gland Developmental hypoplasia of the parathyroid gland NOT_TRANSLATED -en nl HP:0033628 rdfs:label Bowel irritability Bowel irritability NOT_TRANSLATED -en nl HP:0033628 IAO:0000115 Intermittent abdominal pain with diarrhea and/or constipation Intermittent abdominal pain with diarrhea and/or constipation NOT_TRANSLATED -en nl HP:0033629 rdfs:label IgG4 autoimmune antibody positivity IgG4 autoimmune antibody positivity NOT_TRANSLATED -en nl HP:0033629 IAO:0000115 The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues NOT_TRANSLATED -en nl HP:0033630 rdfs:label Brain fog Brain fog NOT_TRANSLATED -en nl HP:0033630 IAO:0000115 "Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is ""cloudy"". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously" "Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is ""cloudy"". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously" NOT_TRANSLATED -en nl HP:0000863 rdfs:label Central diabetes insipidus Centrale diabetes insipidus CANDIDATE -en nl HP:0000863 IAO:0000115 A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus NOT_TRANSLATED -en nl HP:0033631 rdfs:label Spondylitis Spondylitis NOT_TRANSLATED -en nl HP:0033631 IAO:0000115 Inflammation of the vertebrae (vertebral bodies) or spine Inflammation of the vertebrae (vertebral bodies) or spine NOT_TRANSLATED -en nl HP:0000864 rdfs:label Abnormality of the hypothalamus-pituitary axis Afwijking van de hypothalamus-hypofyse-as CANDIDATE -en nl HP:0000864 IAO:0000115 Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit NOT_TRANSLATED -en nl HP:0033632 rdfs:label Abnormal alveolar volume Abnormal alveolar volume NOT_TRANSLATED -en nl HP:0033632 IAO:0000115 Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas NOT_TRANSLATED -en nl HP:0033633 rdfs:label Decreased alveolar volume Decreased alveolar volume NOT_TRANSLATED -en nl HP:0033633 IAO:0000115 An abnormal reduction in alveolar volume An abnormal reduction in alveolar volume NOT_TRANSLATED -en nl HP:0000866 rdfs:label Euthyroid multinodular goiter Euthyreoot multinodulair struma CANDIDATE -en nl HP:0033634 rdfs:label Increased alveolar volume Increased alveolar volume NOT_TRANSLATED -en nl HP:0033634 IAO:0000115 An abnormal elevation in alveolar volume An abnormal elevation in alveolar volume NOT_TRANSLATED -en nl HP:0000867 rdfs:label Secondary hyperparathyroidism Secundaire hyperparathyroïdie CANDIDATE -en nl HP:0000867 IAO:0000115 Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia NOT_TRANSLATED -en nl HP:0033635 rdfs:label Post-capillary pulmonary hypertension Post-capillary pulmonary hypertension NOT_TRANSLATED -en nl HP:0033635 IAO:0000115 Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) NOT_TRANSLATED -en nl HP:0000868 rdfs:label Decreased fertility in females Verminderde vruchtbaarheid bij vrouwen CANDIDATE -en nl HP:0033636 rdfs:label Combined pre- and post-capillary pulmonary hypertension Combined pre- and post-capillary pulmonary hypertension NOT_TRANSLATED -en nl HP:0033636 IAO:0000115 Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) NOT_TRANSLATED -en nl HP:0000869 rdfs:label Secondary amenorrhea Secundaire amenorroe CANDIDATE -en nl HP:0033637 rdfs:label Anti-endomysial antibody positivity Anti-endomysial antibody positivity NOT_TRANSLATED -en nl HP:0033637 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2) NOT_TRANSLATED -en nl HP:0000870 rdfs:label Increased circulating prolactin concentration Prolactine overmaat CANDIDATE -en nl HP:0000870 IAO:0000115 The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy NOT_TRANSLATED -en nl HP:0033638 rdfs:label Intralobular septal thickening Intralobular septal thickening NOT_TRANSLATED -en nl HP:0033638 IAO:0000115 Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern NOT_TRANSLATED -en nl HP:0000871 rdfs:label Panhypopituitarism Panhypopituitarisme CANDIDATE -en nl HP:0000871 IAO:0000115 A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin) A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin) NOT_TRANSLATED -en nl HP:0033639 rdfs:label Septic pulmonary embolism Septic pulmonary embolism NOT_TRANSLATED -en nl HP:0033639 IAO:0000115 Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations NOT_TRANSLATED -en nl HP:0000872 rdfs:label Hashimoto thyroiditis Hashimoto thyroiditis CANDIDATE -en nl HP:0000872 IAO:0000115 A chronic, autoimmune type of thyroiditis associated with hypothyroidism A chronic, autoimmune type of thyroiditis associated with hypothyroidism NOT_TRANSLATED -en nl HP:0033640 rdfs:label Acetabular erosions Acetabular erosions NOT_TRANSLATED -en nl HP:0033640 IAO:0000115 Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint NOT_TRANSLATED -en nl HP:0000873 rdfs:label Diabetes insipidus Diabetes insipidus CANDIDATE -en nl HP:0000873 IAO:0000115 A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus) A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus) NOT_TRANSLATED -en nl HP:0033641 rdfs:label Aortic valve leaflet calcification Aortic valve leaflet calcification NOT_TRANSLATED -en nl HP:0033641 IAO:0000115 Deposition of calcium salts in the leaflets (cusps) of the aortic valve Deposition of calcium salts in the leaflets (cusps) of the aortic valve NOT_TRANSLATED -en nl HP:0033642 rdfs:label Mitral valve leaflet calcification Mitral valve leaflet calcification NOT_TRANSLATED -en nl HP:0033642 IAO:0000115 Deposition of calcium salts in the leaflets (cusps) of the mitral valve Deposition of calcium salts in the leaflets (cusps) of the mitral valve NOT_TRANSLATED -en nl HP:0000875 rdfs:label Episodic hypertension Episodische hypertensie CANDIDATE -en nl HP:0033643 rdfs:label Increased circulating very long-chain fatty acid concentration Increased circulating very long-chain fatty acid concentration NOT_TRANSLATED -en nl HP:0033643 IAO:0000115 Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons NOT_TRANSLATED -en nl HP:0000876 rdfs:label Oligomenorrhea Oligiomenorree CANDIDATE -en nl HP:0000876 IAO:0000115 Infrequent menses (less than 6 per year or more than 35 days between cycles) Infrequent menses (less than 6 per year or more than 35 days between cycles) NOT_TRANSLATED -en nl HP:0033644 rdfs:label Elevated circulating erythropoietin concentration Elevated circulating erythropoietin concentration NOT_TRANSLATED -en nl HP:0033644 IAO:0000115 Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production NOT_TRANSLATED -en nl HP:0000877 rdfs:label Insulin-resistant diabetes mellitus at puberty Insuline-resistente diabetes mellitus in de puberteit CANDIDATE -en nl HP:0033645 rdfs:label Midline brainstem cleft Midline brainstem cleft NOT_TRANSLATED -en nl HP:0033645 IAO:0000115 A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons NOT_TRANSLATED -en nl HP:0000878 rdfs:label 11 pairs of ribs 11 paar ribben CANDIDATE -en nl HP:0000878 IAO:0000115 Presence of only 11 pairs of ribs Presence of only 11 pairs of ribs NOT_TRANSLATED -en nl HP:0033646 rdfs:label Absent hippocampal commissure Absent hippocampal commissure NOT_TRANSLATED -en nl HP:0033646 IAO:0000115 Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum NOT_TRANSLATED -en nl HP:0000879 rdfs:label Short sternum Kort borstbeen CANDIDATE -en nl HP:0000879 IAO:0000115 Decreased inferosuperior length of the sternum Decreased inferosuperior length of the sternum NOT_TRANSLATED -en nl HP:0033647 rdfs:label Silhouette sign Silhouette sign NOT_TRANSLATED -en nl HP:0033647 IAO:0000115 The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette NOT_TRANSLATED -en nl HP:0033648 rdfs:label Pulmonary pseudocavity Pulmonary pseudocavity NOT_TRANSLATED -en nl HP:0033648 IAO:0000115 A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia NOT_TRANSLATED -en nl HP:0033649 rdfs:label Paraseptal emphysema Paraseptal emphysema NOT_TRANSLATED -en nl HP:0033649 IAO:0000115 Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae NOT_TRANSLATED -en nl HP:0000882 rdfs:label Hypoplastic scapulae Hypoplastische scapulae CANDIDATE -en nl HP:0000882 IAO:0000115 Underdeveloped scapula Underdeveloped scapula NOT_TRANSLATED -en nl HP:0033650 rdfs:label Pulmonary parenchymal band Pulmonary parenchymal band NOT_TRANSLATED -en nl HP:0033650 IAO:0000115 A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos NOT_TRANSLATED -en nl HP:0000883 rdfs:label Thin ribs Dunne ribben CANDIDATE -en nl HP:0000883 IAO:0000115 Ribs with a reduced diameter Ribs with a reduced diameter NOT_TRANSLATED -en nl HP:0033651 rdfs:label Pulmonary mycetoma Pulmonary mycetoma NOT_TRANSLATED -en nl HP:0033651 IAO:0000115 A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma NOT_TRANSLATED -en nl HP:0000884 rdfs:label Prominent sternum Prominent borstbeen CANDIDATE -en nl HP:0033652 rdfs:label Broncholith Broncholith NOT_TRANSLATED -en nl HP:0033652 IAO:0000115 A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis NOT_TRANSLATED -en nl HP:0000885 rdfs:label Broad ribs Brede ribben CANDIDATE -en nl HP:0000885 IAO:0000115 Increased width of ribs Increased width of ribs NOT_TRANSLATED -en nl HP:0033653 rdfs:label Bronchocele Bronchocele NOT_TRANSLATED -en nl HP:0033653 IAO:0000115 A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion NOT_TRANSLATED -en nl HP:0000886 rdfs:label Deformed rib cage Misvormde ribbenkast CANDIDATE -en nl HP:0000886 IAO:0000115 Malformation of the rib cage Malformation of the rib cage NOT_TRANSLATED -en nl HP:0033654 rdfs:label Beaded septum sign Beaded septum sign NOT_TRANSLATED -en nl HP:0033654 IAO:0000115 Irregular and nodular thickening of interlobular septa reminiscent of a row of beads Irregular and nodular thickening of interlobular septa reminiscent of a row of beads NOT_TRANSLATED -en nl HP:0000887 rdfs:label Cupped ribs Holle ribben CANDIDATE -en nl HP:0000887 IAO:0000115 Wide, concave rib end Wide, concave rib end NOT_TRANSLATED -en nl HP:0033655 rdfs:label Pulmonary cavity Pulmonary cavity NOT_TRANSLATED -en nl HP:0033655 IAO:0000115 A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick NOT_TRANSLATED -en nl HP:0000888 rdfs:label Horizontal ribs Horizontale ribben CANDIDATE -en nl HP:0000888 IAO:0000115 A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12 A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12 NOT_TRANSLATED -en nl HP:0033656 rdfs:label Juxtaphrenic peak Juxtaphrenic peak NOT_TRANSLATED -en nl HP:0033656 IAO:0000115 A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament NOT_TRANSLATED -en nl HP:0000889 rdfs:label Abnormal clavicle morphology Afwijking van het sleutelbeen CANDIDATE -en nl HP:0000889 IAO:0000115 Any abnormality of the clavicles (collar bones) Any abnormality of the clavicles (collar bones) NOT_TRANSLATED -en nl HP:0033657 rdfs:label Linear atelectasis Linear atelectasis NOT_TRANSLATED -en nl HP:0033657 IAO:0000115 Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm NOT_TRANSLATED -en nl HP:0000890 rdfs:label Long clavicles Lange sleutelbeenderen CANDIDATE -en nl HP:0000890 IAO:0000115 Increased length of the clavicles Increased length of the clavicles NOT_TRANSLATED -en nl HP:0033658 rdfs:label Rounded atelectasis Rounded atelectasis NOT_TRANSLATED -en nl HP:0033658 IAO:0000115 Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung NOT_TRANSLATED -en nl HP:0000891 rdfs:label Cervical ribs Cervicale ribben CANDIDATE -en nl HP:0000892 rdfs:label Bifid ribs Gespleten ribben CANDIDATE -en nl HP:0000892 IAO:0000115 A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray NOT_TRANSLATED -en nl HP:0033660 rdfs:label Hand paresthesia Hand paresthesia NOT_TRANSLATED -en nl HP:0033660 IAO:0000115 Tingling (often refered to as a pins and needles feeling) and numbness in the hand Tingling (often refered to as a pins and needles feeling) and numbness in the hand NOT_TRANSLATED -en nl HP:0000893 rdfs:label Bulging of the costochondral junction Bolling van de costochondrale verbinding CANDIDATE -en nl HP:0000893 IAO:0000115 Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage NOT_TRANSLATED -en nl HP:0033661 rdfs:label Air crescent Air crescent NOT_TRANSLATED -en nl HP:0033661 IAO:0000115 An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer NOT_TRANSLATED -en nl HP:0000894 rdfs:label Short clavicles Korte sleutelbeenderen CANDIDATE -en nl HP:0000894 IAO:0000115 Reduced length of the clavicles Reduced length of the clavicles NOT_TRANSLATED -en nl HP:0033662 rdfs:label Air bronchogram Air bronchogram NOT_TRANSLATED -en nl HP:0033662 IAO:0000115 An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma) An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma) NOT_TRANSLATED -en nl HP:0000895 rdfs:label Lateral clavicle hook Laterale sleutelbeen haak CANDIDATE -en nl HP:0000895 IAO:0000115 An excessive upward convexity of the lateral clavicle An excessive upward convexity of the lateral clavicle NOT_TRANSLATED -en nl HP:0033663 rdfs:label Air trapping Air trapping NOT_TRANSLATED -en nl HP:0033663 IAO:0000115 Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse NOT_TRANSLATED -en nl HP:0000896 rdfs:label Rib exostoses Rib-exostosen CANDIDATE -en nl HP:0000896 IAO:0000115 Multiple circumscribed bony excrescences located in the ribs Multiple circumscribed bony excrescences located in the ribs NOT_TRANSLATED -en nl HP:0033664 rdfs:label Ganglioglioma Ganglioglioma NOT_TRANSLATED -en nl HP:0033664 IAO:0000115 Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells NOT_TRANSLATED -en nl HP:0000897 rdfs:label Rachitic rosary Rachitische rozenkrans CANDIDATE -en nl HP:0000897 IAO:0000115 A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary NOT_TRANSLATED -en nl HP:0033665 rdfs:label Diminished health-related quality of life Diminished health-related quality of life NOT_TRANSLATED -en nl HP:0033665 IAO:0000115 A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles NOT_TRANSLATED -en nl HP:0033666 rdfs:label Diminished physical functioning Diminished physical functioning NOT_TRANSLATED -en nl HP:0033666 IAO:0000115 A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning NOT_TRANSLATED -en nl HP:0033667 rdfs:label Diminished mental health Diminished mental health NOT_TRANSLATED -en nl HP:0033667 IAO:0000115 A reduction in the subjective feeling of mental well being A reduction in the subjective feeling of mental well being NOT_TRANSLATED -en nl HP:0000900 rdfs:label Thickened ribs Verdikte ribben CANDIDATE -en nl HP:0000900 IAO:0000115 Increased thickness (diameter) of ribs Increased thickness (diameter) of ribs NOT_TRANSLATED -en nl HP:0033668 rdfs:label Abnormal amygdala morphology Abnormal amygdala morphology NOT_TRANSLATED -en nl HP:0033668 IAO:0000115 A structural anomaly of the amygdala A structural anomaly of the amygdala NOT_TRANSLATED -en nl HP:0033669 rdfs:label Enlarged amygdala Enlarged amygdala NOT_TRANSLATED -en nl HP:0033669 IAO:0000115 A increase in the volume (size) of the amygdyla A increase in the volume (size) of the amygdyla NOT_TRANSLATED -en nl HP:0000902 rdfs:label Rib fusion Ribfusie CANDIDATE -en nl HP:0000902 IAO:0000115 Complete or partial merging of adjacent ribs Complete or partial merging of adjacent ribs NOT_TRANSLATED -en nl HP:0033670 rdfs:label Organizing pneumonia Organizing pneumonia NOT_TRANSLATED -en nl HP:0033670 IAO:0000115 Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities NOT_TRANSLATED -en nl HP:0033671 rdfs:label Pulmonary oligemia Pulmonary oligemia NOT_TRANSLATED -en nl HP:0033671 IAO:0000115 Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow NOT_TRANSLATED -en nl HP:0000904 rdfs:label Flaring of rib cage Affakkelen van ribbenkast CANDIDATE -en nl HP:0000904 IAO:0000115 The presence of wide, concave anterior rib ends The presence of wide, concave anterior rib ends NOT_TRANSLATED -en nl HP:0033672 rdfs:label Positive carpal Tinel sign Positive carpal Tinel sign NOT_TRANSLATED -en nl HP:0033672 IAO:0000115 The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve NOT_TRANSLATED -en nl HP:0000905 rdfs:label Progressive clavicular acroosteolysis Progressieve claviculaire acro-osteolyse CANDIDATE -en nl HP:0000905 IAO:0000115 Progressive bone resorption in the distal part of the clavicle Progressive bone resorption in the distal part of the clavicle NOT_TRANSLATED -en nl HP:0033673 rdfs:label Positive Phalen test Positive Phalen test NOT_TRANSLATED -en nl HP:0033673 IAO:0000115 The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger) The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger) NOT_TRANSLATED -en nl HP:0033674 rdfs:label Pulmonary blood flow redistribution Pulmonary blood flow redistribution NOT_TRANSLATED -en nl HP:0033674 IAO:0000115 Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung NOT_TRANSLATED -en nl HP:0000907 rdfs:label Anterior rib cupping Voorste rib cupping CANDIDATE -en nl HP:0000907 IAO:0000115 Wide, concave anterior rib end Wide, concave anterior rib end NOT_TRANSLATED -en nl HP:0033675 rdfs:label Frailty Frailty NOT_TRANSLATED -en nl HP:0033675 IAO:0000115 A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised NOT_TRANSLATED -en nl HP:0033676 rdfs:label Posttraumatic stress symptom Posttraumatic stress symptom NOT_TRANSLATED -en nl HP:0033676 IAO:0000115 A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) NOT_TRANSLATED -en nl HP:0033677 rdfs:label Acute respiratory distress syndrome Acute respiratory distress syndrome NOT_TRANSLATED -en nl HP:0033677 IAO:0000115 Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300 Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300 NOT_TRANSLATED -en nl HP:0000910 rdfs:label Wide-cupped costochondral junctions Breed gecupte costochondrale verbindingen CANDIDATE -en nl HP:0033678 rdfs:label Acute coronary syndrome Acute coronary syndrome NOT_TRANSLATED -en nl HP:0033678 IAO:0000115 The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI) The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI) NOT_TRANSLATED -en nl HP:0000911 rdfs:label Flat glenoid fossa Platte glenoïde fossa CANDIDATE -en nl HP:0000911 IAO:0000115 Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus NOT_TRANSLATED -en nl HP:0033679 rdfs:label Abnormal red nucleus morphology Abnormal red nucleus morphology NOT_TRANSLATED -en nl HP:0033679 IAO:0000115 Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement NOT_TRANSLATED -en nl HP:0000912 rdfs:label Sprengel anomaly Sprengel anomalie CANDIDATE -en nl HP:0000912 IAO:0000115 A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other) A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other) NOT_TRANSLATED -en nl HP:0033680 rdfs:label Pilocytic astrocytoma Pilocytic astrocytoma NOT_TRANSLATED -en nl HP:0033680 IAO:0000115 The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities NOT_TRANSLATED -en nl HP:0000913 rdfs:label Posterior rib fusion Achterste ribfusie CANDIDATE -en nl HP:0000913 IAO:0000115 Complete or partial merging of the posterior part of adjacent ribs Complete or partial merging of the posterior part of adjacent ribs NOT_TRANSLATED -en nl HP:0033681 rdfs:label Oligodendroglioma Oligodendroglioma NOT_TRANSLATED -en nl HP:0033681 IAO:0000115 Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG NOT_TRANSLATED -en nl HP:0000914 rdfs:label Shield chest Schildborst CANDIDATE -en nl HP:0000914 IAO:0000115 A broad chest A broad chest NOT_TRANSLATED -en nl HP:0033682 rdfs:label Pleomorphic xanthoastrocytoma Pleomorphic xanthoastrocytoma NOT_TRANSLATED -en nl HP:0033682 IAO:0000115 Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth NOT_TRANSLATED -en nl HP:0000915 rdfs:label Pectus excavatum of inferior sternum Pectus excavatum van inferieur borstbeen CANDIDATE -en nl HP:0000915 IAO:0000115 Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum NOT_TRANSLATED -en nl HP:0033683 rdfs:label Jaw hyperreflexia Jaw hyperreflexia NOT_TRANSLATED -en nl HP:0033683 IAO:0000115 Increased intensity of muscle tendon reflexes in jaw Increased intensity of muscle tendon reflexes in jaw NOT_TRANSLATED -en nl HP:0000916 rdfs:label Broad clavicles Brede sleutelbeenderen CANDIDATE -en nl HP:0000916 IAO:0000115 Increased width (cross-sectional diameter) of the clavicles Increased width (cross-sectional diameter) of the clavicles NOT_TRANSLATED -en nl HP:0033684 rdfs:label Abnormal muscle fiber-type distribution Abnormal muscle fiber-type distribution NOT_TRANSLATED -en nl HP:0033684 IAO:0000115 Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types NOT_TRANSLATED -en nl HP:0000917 rdfs:label Superior pectus carinatum Superieur pectus carinatum CANDIDATE -en nl HP:0000917 IAO:0000115 Pectus carinatum affecting primarily the superior part of the sternum Pectus carinatum affecting primarily the superior part of the sternum NOT_TRANSLATED -en nl HP:0033685 rdfs:label Fiber type grouping Fiber type grouping NOT_TRANSLATED -en nl HP:0033685 IAO:0000115 An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type NOT_TRANSLATED -en nl HP:0000918 rdfs:label Scapular exostoses Scapuliere exostosen CANDIDATE -en nl HP:0000918 IAO:0000115 The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage NOT_TRANSLATED -en nl HP:0033686 rdfs:label Mitochondrial hypertrophy Mitochondrial hypertrophy NOT_TRANSLATED -en nl HP:0033686 IAO:0000115 Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM NOT_TRANSLATED -en nl HP:0000919 rdfs:label Abnormality of the costochondral junction Afwijking van de costochondrale verbinding CANDIDATE -en nl HP:0000919 IAO:0000115 Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum NOT_TRANSLATED -en nl HP:0033687 rdfs:label Short term memory impairment Short term memory impairment NOT_TRANSLATED -en nl HP:0033687 IAO:0000115 A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds) A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds) NOT_TRANSLATED -en nl HP:0000920 rdfs:label Enlargement of the costochondral junction Vergroting van de costochondrale verbinding CANDIDATE -en nl HP:0000920 IAO:0000115 Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum NOT_TRANSLATED -en nl HP:0033688 rdfs:label Long term memory impairment Long term memory impairment NOT_TRANSLATED -en nl HP:0033688 IAO:0000115 A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that) A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that) NOT_TRANSLATED -en nl HP:0000921 rdfs:label Missing ribs Ontbrekende ribben CANDIDATE -en nl HP:0000921 IAO:0000115 A developmental anomaly with absence of one or more ribs A developmental anomaly with absence of one or more ribs NOT_TRANSLATED -en nl HP:0033689 rdfs:label Anterograde memory impairment Anterograde memory impairment NOT_TRANSLATED -en nl HP:0033689 IAO:0000115 The impaired ability to establish new long-term memories The impaired ability to establish new long-term memories NOT_TRANSLATED -en nl HP:0000922 rdfs:label Posterior rib cupping Achterste rib cupping CANDIDATE -en nl HP:0000922 IAO:0000115 Wide, concave posterior rib end Wide, concave posterior rib end NOT_TRANSLATED -en nl HP:0033690 rdfs:label Retrograde memory impairment Retrograde memory impairment NOT_TRANSLATED -en nl HP:0033690 IAO:0000115 Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia NOT_TRANSLATED -en nl HP:0000923 rdfs:label Beaded ribs Rozenkrans ribben CANDIDATE -en nl HP:0000923 IAO:0000115 The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage NOT_TRANSLATED -en nl HP:0033691 rdfs:label Procedural memory loss Procedural memory loss NOT_TRANSLATED -en nl HP:0033691 IAO:0000115 A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument NOT_TRANSLATED -en nl HP:0000924 rdfs:label Abnormality of the skeletal system Afwijking van het skeletsysteem CANDIDATE -en nl HP:0000924 IAO:0000115 An abnormality of the skeletal system An abnormality of the skeletal system NOT_TRANSLATED -en nl HP:0033692 rdfs:label Declarative memory loss Declarative memory loss NOT_TRANSLATED -en nl HP:0033692 IAO:0000115 Impaired ability to remember facts and events Impaired ability to remember facts and events NOT_TRANSLATED -en nl HP:0000925 rdfs:label Abnormality of the vertebral column Afwijking van de wervelkolom CANDIDATE -en nl HP:0000925 IAO:0000115 Any abnormality of the vertebral column Any abnormality of the vertebral column NOT_TRANSLATED -en nl HP:0033693 rdfs:label Phantosmia Phantosmia NOT_TRANSLATED -en nl HP:0033693 IAO:0000115 Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor NOT_TRANSLATED -en nl HP:0000926 rdfs:label Platyspondyly Platiespondylie CANDIDATE -en nl HP:0000926 IAO:0000115 A flattened vertebral body shape with reduced distance between the vertebral endplates A flattened vertebral body shape with reduced distance between the vertebral endplates NOT_TRANSLATED -en nl HP:0033694 rdfs:label Tactile hallucination Tactile hallucination NOT_TRANSLATED -en nl HP:0033694 IAO:0000115 The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object NOT_TRANSLATED -en nl HP:0000927 rdfs:label Abnormality of skeletal maturation Afwijking van skeletale maturiteit CANDIDATE -en nl HP:0000927 IAO:0000115 The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation NOT_TRANSLATED -en nl HP:0033695 rdfs:label Occupational disability Occupational disability NOT_TRANSLATED -en nl HP:0033695 IAO:0000115 This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities NOT_TRANSLATED -en nl HP:0033696 rdfs:label Pseudo-chilblain Pseudo-chilblain NOT_TRANSLATED -en nl HP:0033696 IAO:0000115 Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet NOT_TRANSLATED -en nl HP:0000929 rdfs:label Abnormal skull morphology Afwijking van de schedel CANDIDATE -en nl HP:0000929 IAO:0000115 An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone NOT_TRANSLATED -en nl HP:0033697 rdfs:label Vesicular eruption Vesicular eruption NOT_TRANSLATED -en nl HP:0033697 IAO:0000115 A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic NOT_TRANSLATED -en nl HP:0000930 rdfs:label Elevated imprint of the transverse sinuses Verhoogde afdruk van de dwarse sinussen CANDIDATE -en nl HP:0033698 rdfs:label Monomorphic vesicular eruption Monomorphic vesicular eruption NOT_TRANSLATED -en nl HP:0033698 IAO:0000115 A type of vesicular eruption in which the vesicles are at same stages A type of vesicular eruption in which the vesicles are at same stages NOT_TRANSLATED -en nl HP:0000931 rdfs:label Thinning and bulging of the posterior fossa bones Afwijking van de posterieure craniale fossa botten CANDIDATE -en nl HP:0033699 rdfs:label Polymorphic vesicular eruption Polymorphic vesicular eruption NOT_TRANSLATED -en nl HP:0033699 IAO:0000115 A type of vesicular eruption in which the vesicles are at different stages A type of vesicular eruption in which the vesicles are at different stages NOT_TRANSLATED -en nl HP:0000932 rdfs:label Abnormal posterior cranial fossa morphology Afwijking van de posterieure craniale fossa CANDIDATE -en nl HP:0000932 IAO:0000115 An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum NOT_TRANSLATED -en nl HP:0033700 rdfs:label Papulovesicular eruption Papulovesicular eruption NOT_TRANSLATED -en nl HP:0033700 IAO:0000115 An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point NOT_TRANSLATED -en nl HP:0000933 rdfs:label Posterior fossa cyst at the fourth ventricle Voorste fossa cyste op de vierde ventrikel CANDIDATE -en nl HP:0033701 rdfs:label Cortical sclerosis of the iliac wing Cortical sclerosis of the iliac wing NOT_TRANSLATED -en nl HP:0033701 IAO:0000115 Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing NOT_TRANSLATED -en nl HP:0000934 rdfs:label Chondrocalcinosis Chondrocalcinose CANDIDATE -en nl HP:0000934 IAO:0000115 Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) NOT_TRANSLATED -en nl HP:0033702 rdfs:label Subpleural curvilinear line Subpleural curvilinear line NOT_TRANSLATED -en nl HP:0033702 IAO:0000115 This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present) This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present) NOT_TRANSLATED -en nl HP:0000935 rdfs:label Thickened cortex of long bones Verdikte cortex van lange beenderen CANDIDATE -en nl HP:0000935 IAO:0000115 Abnormal thickening of the cortex of long bones Abnormal thickening of the cortex of long bones NOT_TRANSLATED -en nl HP:0033703 rdfs:label Dysembryoplastic neuroepithelial tumor Dysembryoplastic neuroepithelial tumor NOT_TRANSLATED -en nl HP:0033703 IAO:0000115 Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found NOT_TRANSLATED -en nl HP:0033704 rdfs:label Elevated urinary homogentisic acid Elevated urinary homogentisic acid NOT_TRANSLATED -en nl HP:0033704 IAO:0000115 An increased amount of homogentisic acid in the urine An increased amount of homogentisic acid in the urine NOT_TRANSLATED -en nl HP:0033705 rdfs:label Tearfulness Tearfulness NOT_TRANSLATED -en nl HP:0033705 IAO:0000115 A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control NOT_TRANSLATED -en nl HP:0000938 rdfs:label Osteopenia Osteopenie CANDIDATE -en nl HP:0000938 IAO:0000115 Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5 Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5 NOT_TRANSLATED -en nl HP:0033706 rdfs:label Progressive massive fibrosis Progressive massive fibrosis NOT_TRANSLATED -en nl HP:0033706 IAO:0000115 This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis NOT_TRANSLATED -en nl HP:0000939 rdfs:label Osteoporosis Osteoporose CANDIDATE -en nl HP:0000939 IAO:0000115 Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD) Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD) NOT_TRANSLATED -en nl HP:0033707 rdfs:label Perioral hyperkeratosis Perioral hyperkeratosis NOT_TRANSLATED -en nl HP:0033707 IAO:0000115 Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth NOT_TRANSLATED -en nl HP:0000940 rdfs:label Abnormal diaphysis morphology Abnormale diafyse morfologie CANDIDATE -en nl HP:0000940 IAO:0000115 An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone NOT_TRANSLATED -en nl HP:0033708 rdfs:label Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity NOT_TRANSLATED -en nl HP:0000941 rdfs:label Short diaphyses Korte diafyses CANDIDATE -en nl HP:0033709 rdfs:label Increased sputum production Increased sputum production NOT_TRANSLATED -en nl HP:0033709 IAO:0000115 An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway) An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway) NOT_TRANSLATED -en nl HP:0033710 rdfs:label Rest dyspnea Rest dyspnea NOT_TRANSLATED -en nl HP:0033710 IAO:0000115 A perception of shortness of breath that occurs independently of exertion A perception of shortness of breath that occurs independently of exertion NOT_TRANSLATED -en nl HP:0000943 rdfs:label Dysostosis multiplex Cleidocranialis multiplex CANDIDATE -en nl HP:0033711 rdfs:label Pulmonary interstitial thickening Pulmonary interstitial thickening NOT_TRANSLATED -en nl HP:0033711 IAO:0000115 Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening NOT_TRANSLATED -en nl HP:0000944 rdfs:label Abnormal metaphysis morphology Afwijking van de metafyses CANDIDATE -en nl HP:0000944 IAO:0000115 An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood NOT_TRANSLATED -en nl HP:0033712 rdfs:label Repeated implantation failure Repeated implantation failure NOT_TRANSLATED -en nl HP:0033712 IAO:0000115 Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles NOT_TRANSLATED -en nl HP:0033713 rdfs:label Anti-signal recognition particle antibody positivity Anti-signal recognition particle antibody positivity NOT_TRANSLATED -en nl HP:0033713 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle NOT_TRANSLATED -en nl HP:0000946 rdfs:label Hypoplastic ilia Hypoplastische darmbeenderen CANDIDATE -en nl HP:0000946 IAO:0000115 Underdevelopment of the ilium Underdevelopment of the ilium NOT_TRANSLATED -en nl HP:0033714 rdfs:label Multiple meningiomas Multiple meningiomas NOT_TRANSLATED -en nl HP:0033714 IAO:0000115 The occurrence of multiple distinct meningiomas in the same individual The occurrence of multiple distinct meningiomas in the same individual NOT_TRANSLATED -en nl HP:0000947 rdfs:label Dumbbell-shaped long bone Halter-vormig lang bot CANDIDATE -en nl HP:0000947 IAO:0000115 An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses NOT_TRANSLATED -en nl HP:0033715 rdfs:label Hippocampal sclerosis Hippocampal sclerosis NOT_TRANSLATED -en nl HP:0033715 IAO:0000115 Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus NOT_TRANSLATED -en nl HP:0033716 rdfs:label EEG with frontal epileptiform discharges EEG with frontal epileptiform discharges NOT_TRANSLATED -en nl HP:0033716 IAO:0000115 Focal epileptiform EEG discharges recorded in the frontal region Focal epileptiform EEG discharges recorded in the frontal region NOT_TRANSLATED -en nl HP:0033717 rdfs:label EEG with temporal epileptiform discharges EEG with temporal epileptiform discharges NOT_TRANSLATED -en nl HP:0033717 IAO:0000115 Focal epileptiform EEG discharges recorded in the temporal region Focal epileptiform EEG discharges recorded in the temporal region NOT_TRANSLATED -en nl HP:0033718 rdfs:label EEG with central epileptiform discharges EEG with central epileptiform discharges NOT_TRANSLATED -en nl HP:0033718 IAO:0000115 Focal epileptiform EEG discharges recorded in the central region Focal epileptiform EEG discharges recorded in the central region NOT_TRANSLATED -en nl HP:0000951 rdfs:label Abnormality of the skin Afwijking van de huid CANDIDATE -en nl HP:0000951 IAO:0000115 An abnormality of the skin An abnormality of the skin NOT_TRANSLATED -en nl HP:0033719 rdfs:label EEG with parietal epileptiform discharges EEG with parietal epileptiform discharges NOT_TRANSLATED -en nl HP:0033719 IAO:0000115 Focal epileptiform EEG discharges recorded in the parietal region Focal epileptiform EEG discharges recorded in the parietal region NOT_TRANSLATED -en nl HP:0000952 rdfs:label Jaundice Geelzucht CANDIDATE -en nl HP:0000952 IAO:0000115 Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream NOT_TRANSLATED -en nl HP:0033720 rdfs:label EEG with occipital epileptiform discharges EEG with occipital epileptiform discharges NOT_TRANSLATED -en nl HP:0033720 IAO:0000115 Focal epileptiform EEG discharges recorded in the occipital region Focal epileptiform EEG discharges recorded in the occipital region NOT_TRANSLATED -en nl HP:0000953 rdfs:label Hyperpigmentation of the skin Hyperpigmentatie van de huid CANDIDATE -en nl HP:0000953 IAO:0000115 A darkening of the skin related to an increase in melanin production and deposition A darkening of the skin related to an increase in melanin production and deposition NOT_TRANSLATED -en nl HP:0033721 rdfs:label EEG with centrotemporal epileptiform discharges EEG with centrotemporal epileptiform discharges NOT_TRANSLATED -en nl HP:0033721 IAO:0000115 Focal epileptiform EEG discharges recorded in the centrotemporal region Focal epileptiform EEG discharges recorded in the centrotemporal region NOT_TRANSLATED -en nl HP:0000954 rdfs:label Single transverse palmar crease Eén dwarse palmaire plooi CANDIDATE -en nl HP:0000954 IAO:0000115 The distal and proximal transverse palmar creases are merged into a single transverse palmar crease The distal and proximal transverse palmar creases are merged into a single transverse palmar crease NOT_TRANSLATED -en nl HP:0033722 rdfs:label Autonomic epileptic aura Autonomic epileptic aura NOT_TRANSLATED -en nl HP:0033722 IAO:0000115 An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region NOT_TRANSLATED -en nl HP:0033723 rdfs:label Abnormal cerebral venous sinus morphology Abnormal cerebral venous sinus morphology NOT_TRANSLATED -en nl HP:0033723 IAO:0000115 Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins NOT_TRANSLATED -en nl HP:0000956 rdfs:label Acanthosis nigricans Acanthosis nigricans CANDIDATE -en nl HP:0000956 IAO:0000115 A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck NOT_TRANSLATED -en nl HP:0033724 rdfs:label Cerebral venous sinus thrombosis Cerebral venous sinus thrombosis NOT_TRANSLATED -en nl HP:0033724 IAO:0000115 An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses NOT_TRANSLATED -en nl HP:0000957 rdfs:label Cafe-au-lait spot Cafe-au-lait plek CANDIDATE -en nl HP:0000957 IAO:0000115 Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children NOT_TRANSLATED -en nl HP:0033725 rdfs:label Thin corpus callosum Thin corpus callosum NOT_TRANSLATED -en nl HP:0033725 IAO:0000115 An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration) An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration) NOT_TRANSLATED -en nl HP:0000958 rdfs:label Dry skin Droge huid CANDIDATE -en nl HP:0000958 IAO:0000115 Skin characterized by the lack of natural or normal moisture Skin characterized by the lack of natural or normal moisture NOT_TRANSLATED -en nl HP:0033726 rdfs:label Lupus nephritis Lupus nephritis NOT_TRANSLATED -en nl HP:0033726 IAO:0000115 Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management NOT_TRANSLATED -en nl HP:0033727 rdfs:label Diffuse lupus nephritis Diffuse lupus nephritis NOT_TRANSLATED -en nl HP:0033727 IAO:0000115 A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations NOT_TRANSLATED -en nl HP:0000960 rdfs:label Sacral dimple Sacraal kuiltje CANDIDATE -en nl HP:0000960 IAO:0000115 A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft NOT_TRANSLATED -en nl HP:0033728 rdfs:label Mesangial proliferative lupus nephritis Mesangial proliferative lupus nephritis NOT_TRANSLATED -en nl HP:0033728 IAO:0000115 A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy NOT_TRANSLATED -en nl HP:0000961 rdfs:label Cyanosis Cyanose CANDIDATE -en nl HP:0000961 IAO:0000115 Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood NOT_TRANSLATED -en nl HP:0033729 rdfs:label Minimal mesangial lupus nephritis Minimal mesangial lupus nephritis NOT_TRANSLATED -en nl HP:0033729 IAO:0000115 A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence NOT_TRANSLATED -en nl HP:0000962 rdfs:label Hyperkeratosis Hyperkeratose CANDIDATE -en nl HP:0000962 IAO:0000115 Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum NOT_TRANSLATED -en nl HP:0033730 rdfs:label Membranous lupus nephritis Membranous lupus nephritis NOT_TRANSLATED -en nl HP:0033730 IAO:0000115 A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis NOT_TRANSLATED -en nl HP:0000963 rdfs:label Thin skin Dunne huid CANDIDATE -en nl HP:0000963 IAO:0000115 Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin NOT_TRANSLATED -en nl HP:0033731 rdfs:label Focal lupus nephritis Focal lupus nephritis NOT_TRANSLATED -en nl HP:0033731 IAO:0000115 A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations NOT_TRANSLATED -en nl HP:0000964 rdfs:label Eczema Eczeem CANDIDATE -en nl HP:0000964 IAO:0000115 Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding NOT_TRANSLATED -en nl HP:0033732 rdfs:label Advanced sclerotic lupus nephritis Advanced sclerotic lupus nephritis NOT_TRANSLATED -en nl HP:0033732 IAO:0000115 A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity NOT_TRANSLATED -en nl HP:0000965 rdfs:label Cutis marmorata Cutis marmorata CANDIDATE -en nl HP:0000965 IAO:0000115 A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather NOT_TRANSLATED -en nl HP:0033733 rdfs:label Low-grade vesicoureteral reflux Low-grade vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033733 IAO:0000115 Vesicoureteral reflux without dilation of the renal calyces (Grade I-II) Vesicoureteral reflux without dilation of the renal calyces (Grade I-II) NOT_TRANSLATED -en nl HP:0000966 rdfs:label Hypohidrosis Hypohidrose CANDIDATE -en nl HP:0000966 IAO:0000115 Abnormally diminished capacity to sweat Abnormally diminished capacity to sweat NOT_TRANSLATED -en nl HP:0033734 rdfs:label High-grade vesicoureteral reflux High-grade vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033734 IAO:0000115 Vesicoureteral reflux with dilation of the renal calyces (Grade III - V) Vesicoureteral reflux with dilation of the renal calyces (Grade III - V) NOT_TRANSLATED -en nl HP:0000967 rdfs:label Petechiae Petechiën CANDIDATE -en nl HP:0000967 IAO:0000115 Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae NOT_TRANSLATED -en nl HP:0033735 rdfs:label Grade I vesicoureteral reflux Grade I vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033735 IAO:0000115 Vesicoureteral reflux into the ureter only Vesicoureteral reflux into the ureter only NOT_TRANSLATED -en nl HP:0000968 rdfs:label Ectodermal dysplasia Ectodermale dysplasie CANDIDATE -en nl HP:0000968 IAO:0000115 Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands NOT_TRANSLATED -en nl HP:0033736 rdfs:label Grade II vesicoureteral reflux Grade II vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033736 IAO:0000115 Vesicoureteral reflux into a non-dilated pyelocalyceal system Vesicoureteral reflux into a non-dilated pyelocalyceal system NOT_TRANSLATED -en nl HP:0000969 rdfs:label Edema Oedeem CANDIDATE -en nl HP:0000969 IAO:0000115 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body NOT_TRANSLATED -en nl HP:0033737 rdfs:label Grade III vesicoureteral reflux Grade III vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033737 IAO:0000115 Vesicoureteral reflux with dilatation of the collecting system Vesicoureteral reflux with dilatation of the collecting system NOT_TRANSLATED -en nl HP:0000970 rdfs:label Anhidrosis Anhidrose CANDIDATE -en nl HP:0000970 IAO:0000115 Inability to sweat Inability to sweat NOT_TRANSLATED -en nl HP:0033738 rdfs:label Primary vesicoureteral reflux Primary vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033738 IAO:0000115 Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction NOT_TRANSLATED -en nl HP:0000971 rdfs:label Abnormal sweat gland morphology Afwijking van de zweetklier CANDIDATE -en nl HP:0000971 IAO:0000115 Any structural abnormality of the sweat gland Any structural abnormality of the sweat gland NOT_TRANSLATED -en nl HP:0033739 rdfs:label Secondary vesicoureteral reflux Secondary vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033739 IAO:0000115 Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction NOT_TRANSLATED -en nl HP:0000972 rdfs:label Palmoplantar hyperkeratosis Palmoplantaire hyperkeratose CANDIDATE -en nl HP:0000972 IAO:0000115 Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot NOT_TRANSLATED -en nl HP:0033740 rdfs:label Grade V vesicoureteral reflux Grade V vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033740 IAO:0000115 Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter NOT_TRANSLATED -en nl HP:0000973 rdfs:label Cutis laxa Cutis laxa CANDIDATE -en nl HP:0000973 IAO:0000115 Wrinkled, redundant, inelastic and sagging skin Wrinkled, redundant, inelastic and sagging skin NOT_TRANSLATED -en nl HP:0033741 rdfs:label Grade IV vesicoureteral reflux Grade IV vesicoureteral reflux NOT_TRANSLATED -en nl HP:0033741 IAO:0000115 Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter NOT_TRANSLATED -en nl HP:0000974 rdfs:label Hyperextensible skin Hyperextensibele huid CANDIDATE -en nl HP:0000974 IAO:0000115 A condition in which the skin can be stretched beyond normal, and then returns to its initial position A condition in which the skin can be stretched beyond normal, and then returns to its initial position NOT_TRANSLATED -en nl HP:0033742 rdfs:label Intrarenal reflux Intrarenal reflux NOT_TRANSLATED -en nl HP:0033742 IAO:0000115 Severe vesicoureteral reflux reaching the kidney parenchyma Severe vesicoureteral reflux reaching the kidney parenchyma NOT_TRANSLATED -en nl HP:0000975 rdfs:label Hyperhidrosis Hyperhidrose CANDIDATE -en nl HP:0000975 IAO:0000115 Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather NOT_TRANSLATED -en nl HP:0033743 rdfs:label Macular agenesis Macular agenesis NOT_TRANSLATED -en nl HP:0033743 IAO:0000115 A congenital defect characterized by lack of development of the macula A congenital defect characterized by lack of development of the macula NOT_TRANSLATED -en nl HP:0000976 rdfs:label Eczematoid dermatitis Eczematoïde dermatitis CANDIDATE -en nl HP:0033744 rdfs:label Global cerebellar dysplasia Global cerebellar dysplasia NOT_TRANSLATED -en nl HP:0000977 rdfs:label Soft skin Zachte huid CANDIDATE -en nl HP:0000977 IAO:0000115 Subjective impression of increased softness upon palpation of the skin Subjective impression of increased softness upon palpation of the skin NOT_TRANSLATED -en nl HP:0033745 rdfs:label Dysplasia of the superior cerebellar vermis Dysplasia of the superior cerebellar vermis NOT_TRANSLATED -en nl HP:0000978 rdfs:label Bruising susceptibility Gevoeligheid voor kneuzingen CANDIDATE -en nl HP:0000978 IAO:0000115 An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma NOT_TRANSLATED -en nl HP:0033746 rdfs:label Intrascapular pain Intrascapular pain NOT_TRANSLATED -en nl HP:0033746 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades NOT_TRANSLATED -en nl HP:0000979 rdfs:label Purpura Purpura CANDIDATE -en nl HP:0000979 IAO:0000115 "Purpura (from Latin: purpura, meaning ""purple"") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae" "Purpura (from Latin: purpura, meaning ""purple"") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae" NOT_TRANSLATED -en nl HP:0033747 rdfs:label Abnormal exteroceptive sensation Abnormal exteroceptive sensation NOT_TRANSLATED -en nl HP:0033747 IAO:0000115 A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes NOT_TRANSLATED -en nl HP:0000980 rdfs:label Pallor Bleekheid CANDIDATE -en nl HP:0000980 IAO:0000115 Abnormally pale skin Abnormally pale skin NOT_TRANSLATED -en nl HP:0033748 rdfs:label Hypoesthesia Hypoesthesia NOT_TRANSLATED -en nl HP:0033748 IAO:0000115 Decreased ability to perceive touch Decreased ability to perceive touch NOT_TRANSLATED -en nl HP:0033749 rdfs:label Abnormal functional residual capacity Abnormal functional residual capacity NOT_TRANSLATED -en nl HP:0033749 IAO:0000115 A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation NOT_TRANSLATED -en nl HP:0000982 rdfs:label Palmoplantar keratoderma Palmoplantaire keratoderma CANDIDATE -en nl HP:0000982 IAO:0000115 Abnormal thickening of the skin of the palms of the hands and the soles of the feet Abnormal thickening of the skin of the palms of the hands and the soles of the feet NOT_TRANSLATED -en nl HP:0033750 rdfs:label Reduced functional residual capacity Reduced functional residual capacity NOT_TRANSLATED -en nl HP:0033750 IAO:0000115 An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation NOT_TRANSLATED -en nl HP:0033751 rdfs:label Elevated functional residual capacity Elevated functional residual capacity NOT_TRANSLATED -en nl HP:0033751 IAO:0000115 An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation NOT_TRANSLATED -en nl HP:0033752 rdfs:label Abnormal residual volume Abnormal residual volume NOT_TRANSLATED -en nl HP:0033752 IAO:0000115 Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs) Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs) NOT_TRANSLATED -en nl HP:0033753 rdfs:label Reduced residual volume Reduced residual volume NOT_TRANSLATED -en nl HP:0033753 IAO:0000115 Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation NOT_TRANSLATED -en nl HP:0033754 rdfs:label Abnormal left ventricular end-diastolic volume Abnormal left ventricular end-diastolic volume NOT_TRANSLATED -en nl HP:0033754 IAO:0000115 Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole) Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole) NOT_TRANSLATED -en nl HP:0000987 rdfs:label Atypical scarring of skin Atypische littekenvorming van de huid CANDIDATE -en nl HP:0000987 IAO:0000115 Atypically scarred skin Atypically scarred skin NOT_TRANSLATED -en nl HP:0033755 rdfs:label Increased left ventricular end-diastolic volume Increased left ventricular end-diastolic volume NOT_TRANSLATED -en nl HP:0033755 IAO:0000115 Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole) Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole) NOT_TRANSLATED -en nl HP:0000988 rdfs:label Skin rash Huiduitslag CANDIDATE -en nl HP:0000988 IAO:0000115 A red eruption of the skin A red eruption of the skin NOT_TRANSLATED -en nl HP:0033756 rdfs:label Decreased left ventricular end-diastolic volume Decreased left ventricular end-diastolic volume NOT_TRANSLATED -en nl HP:0033756 IAO:0000115 Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole) Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole) NOT_TRANSLATED -en nl HP:0000989 rdfs:label Pruritus Pruritus CANDIDATE -en nl HP:0000989 IAO:0000115 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus NOT_TRANSLATED -en nl HP:0033757 rdfs:label Pancreatic steatosis Pancreatic steatosis NOT_TRANSLATED -en nl HP:0033757 IAO:0000115 Fat infiltration in the pancreas Fat infiltration in the pancreas NOT_TRANSLATED -en nl HP:0033758 rdfs:label Labial abscess Labial abscess NOT_TRANSLATED -en nl HP:0033758 IAO:0000115 A circumscribed area of pus or necrotic debris in the labia A circumscribed area of pus or necrotic debris in the labia NOT_TRANSLATED -en nl HP:0000991 rdfs:label Xanthomatosis Xanthomatose CANDIDATE -en nl HP:0000991 IAO:0000115 The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin NOT_TRANSLATED -en nl HP:0033759 rdfs:label Impaired renal tubular reabsorption of magnesium Impaired renal tubular reabsorption of magnesium NOT_TRANSLATED -en nl HP:0033759 IAO:0000115 Decreased renal tubular reabsorption of magnesium Decreased renal tubular reabsorption of magnesium NOT_TRANSLATED -en nl HP:0000992 rdfs:label Cutaneous photosensitivity Cutane fotosensitiviteit CANDIDATE -en nl HP:0000992 IAO:0000115 An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin NOT_TRANSLATED -en nl HP:0033760 rdfs:label Decreased maximal oxygen uptake Decreased maximal oxygen uptake NOT_TRANSLATED -en nl HP:0033760 IAO:0000115 Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload NOT_TRANSLATED -en nl HP:0000993 rdfs:label Molluscoid pseudotumors Molluscoïde pseudotumoren CANDIDATE -en nl HP:0000993 IAO:0000115 Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees NOT_TRANSLATED -en nl HP:0033761 rdfs:label Xanthogranulomatous pyelonephritis Xanthogranulomatous pyelonephritis NOT_TRANSLATED -en nl HP:0033761 IAO:0000115 Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells NOT_TRANSLATED -en nl HP:0033762 rdfs:label Middle cerebral artery stroke Middle cerebral artery stroke NOT_TRANSLATED -en nl HP:0033762 IAO:0000115 Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain NOT_TRANSLATED -en nl HP:0000995 rdfs:label Melanocytic nevus Melanocytaire naevus CANDIDATE -en nl HP:0000995 IAO:0000115 A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger NOT_TRANSLATED -en nl HP:0033763 rdfs:label Death in adulthood Death in adulthood NOT_TRANSLATED -en nl HP:0033763 IAO:0000115 Cessation of life at the age of 16 years or later Cessation of life at the age of 16 years or later NOT_TRANSLATED -en nl HP:0000996 rdfs:label Facial capillary hemangioma Capillair gezichtshemangioom CANDIDATE -en nl HP:0000996 IAO:0000115 Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face NOT_TRANSLATED -en nl HP:0033764 rdfs:label Death in middle age Death in middle age NOT_TRANSLATED -en nl HP:0033764 IAO:0000115 Death between the age of 40 and 60 years Death between the age of 40 and 60 years NOT_TRANSLATED -en nl HP:0000997 rdfs:label Axillary freckling Axillaire sproeten CANDIDATE -en nl HP:0000997 IAO:0000115 The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin NOT_TRANSLATED -en nl HP:0033765 rdfs:label Death in late adulthood Death in late adulthood NOT_TRANSLATED -en nl HP:0033765 IAO:0000115 Death at an age of at least 60 years Death at an age of at least 60 years NOT_TRANSLATED -en nl HP:0000998 rdfs:label Hypertrichosis Hypertrichose CANDIDATE -en nl HP:0000998 IAO:0000115 Hypertrichosis is increased hair growth that is abnormal in quantity or location Hypertrichosis is increased hair growth that is abnormal in quantity or location NOT_TRANSLATED -en nl HP:0033766 rdfs:label Polymelia Polymelia NOT_TRANSLATED -en nl HP:0033766 IAO:0000115 Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis) Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis) NOT_TRANSLATED -en nl HP:0000999 rdfs:label Pyoderma Pyodermie CANDIDATE -en nl HP:0000999 IAO:0000115 Any manifestation of a skin disease associated with the production of pus Any manifestation of a skin disease associated with the production of pus NOT_TRANSLATED -en nl HP:0033767 rdfs:label Abnormal single motor unit action potential Abnormal single motor unit action potential NOT_TRANSLATED -en nl HP:0033767 IAO:0000115 Abnormally high or low single motor unit action potential reading (-Pk Amps) Abnormally high or low single motor unit action potential reading (-Pk Amps) NOT_TRANSLATED -en nl HP:0001000 rdfs:label Abnormality of skin pigmentation Afwijking van huidpigmentatie CANDIDATE -en nl HP:0001000 IAO:0000115 An abnormality of the pigmentation of the skin An abnormality of the pigmentation of the skin NOT_TRANSLATED -en nl HP:0033768 rdfs:label Penile thrush Penile thrush NOT_TRANSLATED -en nl HP:0033768 IAO:0000115 Overgrowth of candida albicans in the penis Overgrowth of candida albicans in the penis NOT_TRANSLATED -en nl HP:0001001 rdfs:label Abnormality of subcutaneous fat tissue Afwijking van onderhuids vetweefsel CANDIDATE -en nl HP:0033769 rdfs:label Fundic gland polyposis Fundic gland polyposis NOT_TRANSLATED -en nl HP:0033769 IAO:0000115 Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps NOT_TRANSLATED -en nl HP:0033770 rdfs:label Gastric adenocarcinoma Gastric adenocarcinoma NOT_TRANSLATED -en nl HP:0033770 IAO:0000115 An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia NOT_TRANSLATED -en nl HP:0001003 rdfs:label Multiple lentigines Multipele lentigines CANDIDATE -en nl HP:0001003 IAO:0000115 Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots NOT_TRANSLATED -en nl HP:0033771 rdfs:label Pleuritic chest pain Pleuritic chest pain NOT_TRANSLATED -en nl HP:0033771 IAO:0000115 Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling NOT_TRANSLATED -en nl HP:0001004 rdfs:label Lymphedema Lymfoedeem CANDIDATE -en nl HP:0001004 IAO:0000115 Localized fluid retention and tissue swelling caused by a compromised lymphatic system Localized fluid retention and tissue swelling caused by a compromised lymphatic system NOT_TRANSLATED -en nl HP:0033772 rdfs:label Abnormal RV/TLC ratio Abnormal RV/TLC ratio NOT_TRANSLATED -en nl HP:0033772 IAO:0000115 Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography NOT_TRANSLATED -en nl HP:0001005 rdfs:label Dermatological manifestations of systemic disorders Dermatologische uitingen van systemische aandoeningen CANDIDATE -en nl HP:0033773 rdfs:label Decreased RV/TLC ratio Decreased RV/TLC ratio NOT_TRANSLATED -en nl HP:0033773 IAO:0000115 An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography NOT_TRANSLATED -en nl HP:0033774 rdfs:label Impaired renal tubular reabsorption of uric acid Impaired renal tubular reabsorption of uric acid NOT_TRANSLATED -en nl HP:0033774 IAO:0000115 Decreased renal tubular reabsorption of uric acid Decreased renal tubular reabsorption of uric acid NOT_TRANSLATED -en nl HP:0001007 rdfs:label Hirsutism Hirsutisme CANDIDATE -en nl HP:0001007 IAO:0000115 Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair) Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair) NOT_TRANSLATED -en nl HP:0033775 rdfs:label Pulmonary imaging sign Pulmonary imaging sign NOT_TRANSLATED -en nl HP:0033775 IAO:0000115 An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images NOT_TRANSLATED -en nl HP:0001008 rdfs:label Accumulation of melanosomes in melanocytes Accumulatie van melanosomens in melanocyten CANDIDATE -en nl HP:0033776 rdfs:label Enamel pearls Enamel pearls NOT_TRANSLATED -en nl HP:0033776 IAO:0000115 Small nodules of enamel on the root of a tooth Small nodules of enamel on the root of a tooth NOT_TRANSLATED -en nl HP:0001009 rdfs:label Telangiectasia Teleangiëctasie CANDIDATE -en nl HP:0001009 IAO:0000115 Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips NOT_TRANSLATED -en nl HP:0033777 rdfs:label Supernumerary cusp Supernumerary cusp NOT_TRANSLATED -en nl HP:0033777 IAO:0000115 Additional cusps of a dental crown Additional cusps of a dental crown NOT_TRANSLATED -en nl HP:0001010 rdfs:label Hypopigmentation of the skin Hypopigmentatie van de huid CANDIDATE -en nl HP:0001010 IAO:0000115 A reduction of skin color related to a decrease in melanin production and deposition A reduction of skin color related to a decrease in melanin production and deposition NOT_TRANSLATED -en nl HP:0033778 rdfs:label Leung cusp Leung cusp NOT_TRANSLATED -en nl HP:0033778 IAO:0000115 An additional cusp located in the middle of the occlusal surface An additional cusp located in the middle of the occlusal surface NOT_TRANSLATED -en nl HP:0033779 rdfs:label Barrel-shaped tooth Barrel-shaped tooth NOT_TRANSLATED -en nl HP:0033779 IAO:0000115 A tooth crown with convex mesial and distal surfaces A tooth crown with convex mesial and distal surfaces NOT_TRANSLATED -en nl HP:0001012 rdfs:label Multiple lipomas Multipele lipomen CANDIDATE -en nl HP:0001012 IAO:0000115 The presence of multiple lipomas (a type of benign tissue made of fatty tissue) The presence of multiple lipomas (a type of benign tissue made of fatty tissue) NOT_TRANSLATED -en nl HP:0033780 rdfs:label Bulbous tooth Bulbous tooth NOT_TRANSLATED -en nl HP:0033780 IAO:0000115 A tooth crown with a marked cervical area constriction A tooth crown with a marked cervical area constriction NOT_TRANSLATED -en nl HP:0001013 rdfs:label Eruptive xanthomas Eruptieve xanthomen CANDIDATE -en nl HP:0001013 IAO:0000115 Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur NOT_TRANSLATED -en nl HP:0033781 rdfs:label Tapered tooth Tapered tooth NOT_TRANSLATED -en nl HP:0033781 IAO:0000115 A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors NOT_TRANSLATED -en nl HP:0001014 rdfs:label Angiokeratoma Angiokeratoom CANDIDATE -en nl HP:0001014 IAO:0000115 Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot NOT_TRANSLATED -en nl HP:0033782 rdfs:label Semilunar tooth Semilunar tooth NOT_TRANSLATED -en nl HP:0033782 IAO:0000115 An incisor with a half-moon shape incisal edge An incisor with a half-moon shape incisal edge NOT_TRANSLATED -en nl HP:0001015 rdfs:label Prominent superficial veins Prominente oppervlakkige aders CANDIDATE -en nl HP:0001015 IAO:0000115 A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal NOT_TRANSLATED -en nl HP:0033783 rdfs:label Molar incisor malformation Molar incisor malformation NOT_TRANSLATED -en nl HP:0033783 IAO:0000115 Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars NOT_TRANSLATED -en nl HP:0033784 rdfs:label Dentin dysplasia Dentin dysplasia NOT_TRANSLATED -en nl HP:0033784 IAO:0000115 This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications NOT_TRANSLATED -en nl HP:0001017 rdfs:label Anemic pallor Anemische bleekheid CANDIDATE -en nl HP:0001017 IAO:0000115 A type of pallor that is secondary to the presence of anemia A type of pallor that is secondary to the presence of anemia NOT_TRANSLATED -en nl HP:0033785 rdfs:label Enamel agenesis Enamel agenesis NOT_TRANSLATED -en nl HP:0033785 IAO:0000115 Complete or almost complete absence of enamel Complete or almost complete absence of enamel NOT_TRANSLATED -en nl HP:0001018 rdfs:label Abnormal palmar dermatoglyphics Abnormale palmaire dermatoglyfen CANDIDATE -en nl HP:0001018 IAO:0000115 An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand NOT_TRANSLATED -en nl HP:0033786 rdfs:label Hypomature enamel Hypomature enamel NOT_TRANSLATED -en nl HP:0033786 IAO:0000115 Enamel with a white or brown discoloration without hypoplasia Enamel with a white or brown discoloration without hypoplasia NOT_TRANSLATED -en nl HP:0001019 rdfs:label Erythroderma Erythrodermie CANDIDATE -en nl HP:0001019 IAO:0000115 An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever NOT_TRANSLATED -en nl HP:0033787 rdfs:label Cementum hypoplasia Cementum hypoplasia NOT_TRANSLATED -en nl HP:0033787 IAO:0000115 The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth NOT_TRANSLATED -en nl HP:0033788 rdfs:label Cementum overgrowth Cementum overgrowth NOT_TRANSLATED -en nl HP:0033788 IAO:0000115 Excess of cementum on the tooth root surface Excess of cementum on the tooth root surface NOT_TRANSLATED -en nl HP:0033789 rdfs:label Triggered by cheese ingestion Triggered by cheese ingestion NOT_TRANSLATED -en nl HP:0033789 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating cheese Applies to a sign or symptom that is provoked or brought about by eating cheese NOT_TRANSLATED -en nl HP:0001022 rdfs:label Albinism Albinisme CANDIDATE -en nl HP:0001022 IAO:0000115 An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina) An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina) NOT_TRANSLATED -en nl HP:0033790 rdfs:label Thistle tube shaped pulp Thistle tube shaped pulp NOT_TRANSLATED -en nl HP:0033790 IAO:0000115 A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations NOT_TRANSLATED -en nl HP:0033791 rdfs:label Tooth ankylosis Tooth ankylosis NOT_TRANSLATED -en nl HP:0033791 IAO:0000115 Fusion of a tooth with alveolar bone Fusion of a tooth with alveolar bone NOT_TRANSLATED -en nl HP:0001024 rdfs:label Skin dimple over apex of long bone angulation Skin dimple over apex of long bone angulation NOT_TRANSLATED -en nl HP:0033792 rdfs:label Cross bite Cross bite NOT_TRANSLATED -en nl HP:0033792 IAO:0000115 Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth NOT_TRANSLATED -en nl HP:0001025 rdfs:label Urticaria Urticaria (galbulten, netelroos) CANDIDATE -en nl HP:0001025 IAO:0000115 Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure NOT_TRANSLATED -en nl HP:0033793 rdfs:label Triggered by food ingestion Triggered by food ingestion NOT_TRANSLATED -en nl HP:0033793 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating a certain food Applies to a sign or symptom that is provoked or brought about by eating a certain food NOT_TRANSLATED -en nl HP:0001026 rdfs:label Penetrating foot ulcers Penetrerende voetzweren CANDIDATE -en nl HP:0033794 rdfs:label Acral overgrowth Acral overgrowth NOT_TRANSLATED -en nl HP:0033794 IAO:0000115 Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement NOT_TRANSLATED -en nl HP:0001027 rdfs:label Soft, doughy skin Zachte, deegachtig huid CANDIDATE -en nl HP:0001027 IAO:0000115 A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough NOT_TRANSLATED -en nl HP:0033795 rdfs:label Growth without growth hormone Growth without growth hormone NOT_TRANSLATED -en nl HP:0001028 rdfs:label Hemangioma Hemangioom CANDIDATE -en nl HP:0001028 IAO:0000115 A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma) A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma) NOT_TRANSLATED -en nl HP:0033796 rdfs:label Abnormal leukocyte physiology Abnormal leukocyte physiology NOT_TRANSLATED -en nl HP:0033796 IAO:0000115 A functional abnormality of a white blood cell A functional abnormality of a white blood cell NOT_TRANSLATED -en nl HP:0001029 rdfs:label Poikiloderma Poikiloderma CANDIDATE -en nl HP:0001029 IAO:0000115 Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias NOT_TRANSLATED -en nl HP:0033797 rdfs:label Leukocyte migration defect Leukocyte migration defect NOT_TRANSLATED -en nl HP:0033797 IAO:0000115 Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization NOT_TRANSLATED -en nl HP:0001030 rdfs:label Fragile skin Kwetsbare huid CANDIDATE -en nl HP:0001030 IAO:0000115 Skin that splits easily with minimal injury Skin that splits easily with minimal injury NOT_TRANSLATED -en nl HP:0033798 rdfs:label Impaired leukocyte adhesion Impaired leukocyte adhesion NOT_TRANSLATED -en nl HP:0033798 IAO:0000115 During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation NOT_TRANSLATED -en nl HP:0001031 rdfs:label Subcutaneous lipoma Subcutane lipoom CANDIDATE -en nl HP:0001031 IAO:0000115 The presence of subcutaneous lipoma The presence of subcutaneous lipoma NOT_TRANSLATED -en nl HP:0033799 rdfs:label Abnormal circulating sex hormone concentration Abnormal circulating sex hormone concentration NOT_TRANSLATED -en nl HP:0033799 IAO:0000115 Any deviation from the normal concentration of a sex hormone in the blood circulation Any deviation from the normal concentration of a sex hormone in the blood circulation NOT_TRANSLATED -en nl HP:0001032 rdfs:label Absent distal interphalangeal creases Afwezige distale interfalangeale plooien CANDIDATE -en nl HP:0001032 IAO:0000115 Absence of the distal interphalangeal flexion creases of the fingers Absence of the distal interphalangeal flexion creases of the fingers NOT_TRANSLATED -en nl HP:0033800 rdfs:label Blistering by anatomical location Blistering by anatomical location NOT_TRANSLATED -en nl HP:0033800 IAO:0000115 Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur NOT_TRANSLATED -en nl HP:0001033 rdfs:label Facial flushing after alcohol intake Gezicht spoelen na alcoholinname CANDIDATE -en nl HP:0033801 rdfs:label Blistering by histological location Blistering by histological location NOT_TRANSLATED -en nl HP:0033801 IAO:0000115 Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa NOT_TRANSLATED -en nl HP:0001034 rdfs:label Hypermelanotic macule Hypermelanotische macula CANDIDATE -en nl HP:0001034 IAO:0000115 A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size NOT_TRANSLATED -en nl HP:0033802 rdfs:label Intra-epidermal blistering Intra-epidermal blistering NOT_TRANSLATED -en nl HP:0033802 IAO:0000115 A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells NOT_TRANSLATED -en nl HP:0033803 rdfs:label Sub-lamina densa cleavage Sub-lamina densa cleavage NOT_TRANSLATED -en nl HP:0033803 IAO:0000115 A type of blistering in which the cleavage plane of blisters is located below the lamina densa A type of blistering in which the cleavage plane of blisters is located below the lamina densa NOT_TRANSLATED -en nl HP:0001036 rdfs:label Parakeratosis Parakeratose CANDIDATE -en nl HP:0001036 IAO:0000115 Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes NOT_TRANSLATED -en nl HP:0033804 rdfs:label Subepidermal blistering Subepidermal blistering NOT_TRANSLATED -en nl HP:0033804 IAO:0000115 A type of blistering in which the lesions are located beneath the epidermis A type of blistering in which the lesions are located beneath the epidermis NOT_TRANSLATED -en nl HP:0033805 rdfs:label Non-necrotizing granuloma Non-necrotizing granuloma NOT_TRANSLATED -en nl HP:0033805 IAO:0000115 A granuloma which is not associated with necrotic changes A granuloma which is not associated with necrotic changes NOT_TRANSLATED -en nl HP:0001038 rdfs:label Warfarin-induced skin necrosis Warfarine-geïnduceerde huidnecrose CANDIDATE -en nl HP:0033806 rdfs:label Abnormal epidermis stratum granulosum morphology Abnormal epidermis stratum granulosum morphology NOT_TRANSLATED -en nl HP:0033806 IAO:0000115 An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum NOT_TRANSLATED -en nl HP:0001039 rdfs:label Atheroeruptive xanthoma Atheroeruptief xanthoom CANDIDATE -en nl HP:0033807 rdfs:label Absent keratohyalin granules Absent keratohyalin granules NOT_TRANSLATED -en nl HP:0033807 IAO:0000115 Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin NOT_TRANSLATED -en nl HP:0001040 rdfs:label Multiple pterygia Multipele pterygia CANDIDATE -en nl HP:0033808 rdfs:label Spermatocele Spermatocele NOT_TRANSLATED -en nl HP:0033808 IAO:0000115 A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily NOT_TRANSLATED -en nl HP:0001041 rdfs:label Facial erythema Gezichtserytheem CANDIDATE -en nl HP:0001041 IAO:0000115 Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED -en nl HP:0033809 rdfs:label Increased circulating 17 hydroxypregnenolone concentration Increased circulating 17 hydroxypregnenolone concentration NOT_TRANSLATED -en nl HP:0033809 IAO:0000115 Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids NOT_TRANSLATED -en nl HP:0001042 rdfs:label High axial triradius Hoge axiale triradius CANDIDATE -en nl HP:0033810 rdfs:label Decreased circulating dihydrotestosterone concentration Decreased circulating dihydrotestosterone concentration NOT_TRANSLATED -en nl HP:0033810 IAO:0000115 A reduced concentration of dihydrotestosterone in the blood circulation A reduced concentration of dihydrotestosterone in the blood circulation NOT_TRANSLATED -en nl HP:0001043 rdfs:label Prominent scalp veins Prominente hoofdhuidaderen CANDIDATE -en nl HP:0033811 rdfs:label Abnormal circulating androstenedione concentration Abnormal circulating androstenedione concentration NOT_TRANSLATED -en nl HP:0033811 IAO:0000115 Any deviation from the normal concentration of androstenedione in the blood circulation Any deviation from the normal concentration of androstenedione in the blood circulation NOT_TRANSLATED -en nl HP:0033812 rdfs:label Decreased circulating androstenedione concentration Decreased circulating androstenedione concentration NOT_TRANSLATED -en nl HP:0033812 IAO:0000115 Reduced concentration of androstenedione in the blood circulation Reduced concentration of androstenedione in the blood circulation NOT_TRANSLATED -en nl HP:0001045 rdfs:label Vitiligo Vitiligo CANDIDATE -en nl HP:0033813 rdfs:label Perilobular Perilobular NOT_TRANSLATED -en nl HP:0033813 IAO:0000115 Situated or occurring around a lobe of an organ Situated or occurring around a lobe of an organ NOT_TRANSLATED -en nl HP:0001046 rdfs:label Intermittent jaundice Intermitterende geelzucht CANDIDATE -en nl HP:0001046 IAO:0000115 Jaundice that is sometimes present, sometimes not Jaundice that is sometimes present, sometimes not NOT_TRANSLATED -en nl HP:0033814 rdfs:label Paraseptal Paraseptal NOT_TRANSLATED -en nl HP:0033814 IAO:0000115 Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa NOT_TRANSLATED -en nl HP:0001047 rdfs:label Atopic dermatitis Atopische dermatitis CANDIDATE -en nl HP:0001047 IAO:0000115 Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage NOT_TRANSLATED -en nl HP:0033815 rdfs:label Bronchocentric Bronchocentric NOT_TRANSLATED -en nl HP:0033815 IAO:0000115 Centered in bronchi or bronchioles Centered in bronchi or bronchioles NOT_TRANSLATED -en nl HP:0001048 rdfs:label Cavernous hemangioma Caverneus hemangioom CANDIDATE -en nl HP:0001048 IAO:0000115 The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma NOT_TRANSLATED -en nl HP:0033816 rdfs:label Centrilobular Centrilobular NOT_TRANSLATED -en nl HP:0033816 IAO:0000115 Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs NOT_TRANSLATED -en nl HP:0001049 rdfs:label Absent dorsal skin creases over affected joints Afwezige dorsale huidplooien op getroffen gewrichten CANDIDATE -en nl HP:0033817 rdfs:label Miliary Miliary NOT_TRANSLATED -en nl HP:0033817 IAO:0000115 Characterized by numerous small lesions said to resemble millet seed Characterized by numerous small lesions said to resemble millet seed NOT_TRANSLATED -en nl HP:0001050 rdfs:label Plethora Overmaat CANDIDATE -en nl HP:0033818 rdfs:label Reticular Reticular NOT_TRANSLATED -en nl HP:0033818 IAO:0000115 Applies to an abnormality whose distribution and appearance resembles a net or network-like structure Applies to an abnormality whose distribution and appearance resembles a net or network-like structure NOT_TRANSLATED -en nl HP:0001051 rdfs:label Seborrheic dermatitis Seborrheic dermatitis (Seborroïsch eczeem) CANDIDATE -en nl HP:0001051 IAO:0000115 Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk NOT_TRANSLATED -en nl HP:0033819 rdfs:label Perilymphatic Perilymphatic NOT_TRANSLATED -en nl HP:0033819 IAO:0000115 Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel) Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel) NOT_TRANSLATED -en nl HP:0001052 rdfs:label Nevus flammeus Naevus flammeus CANDIDATE -en nl HP:0001052 IAO:0000115 A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin NOT_TRANSLATED -en nl HP:0033820 rdfs:label Apical Apical NOT_TRANSLATED -en nl HP:0033820 IAO:0000115 Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung NOT_TRANSLATED -en nl HP:0001053 rdfs:label Hypopigmented skin patches Hypogepigmenteerde huidvlekjes CANDIDATE -en nl HP:0033821 rdfs:label Pulmonary mass Pulmonary mass NOT_TRANSLATED -en nl HP:0033821 IAO:0000115 A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) NOT_TRANSLATED -en nl HP:0001054 rdfs:label Numerous nevi Talrijke naevi CANDIDATE -en nl HP:0033822 rdfs:label Mass on thoracic imaging Mass on thoracic imaging NOT_TRANSLATED -en nl HP:0033822 IAO:0000115 A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diametern(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diametern(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features NOT_TRANSLATED -en nl HP:0001055 rdfs:label Erysipelas Erysipelas CANDIDATE -en nl HP:0001055 IAO:0000115 Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system NOT_TRANSLATED -en nl HP:0033823 rdfs:label Mediastinal mass Mediastinal mass NOT_TRANSLATED -en nl HP:0033823 IAO:0000115 A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) NOT_TRANSLATED -en nl HP:0001056 rdfs:label Milia Milia CANDIDATE -en nl HP:0001056 IAO:0000115 Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin NOT_TRANSLATED -en nl HP:0033824 rdfs:label Pleural mass Pleural mass NOT_TRANSLATED -en nl HP:0033824 IAO:0000115 A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) NOT_TRANSLATED -en nl HP:0001057 rdfs:label Aplasia cutis congenita Aplasia cutis congenita CANDIDATE -en nl HP:0001057 IAO:0000115 A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs NOT_TRANSLATED -en nl HP:0033825 rdfs:label Superior mediastinal mass Superior mediastinal mass NOT_TRANSLATED -en nl HP:0033825 IAO:0000115 A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) NOT_TRANSLATED -en nl HP:0001058 rdfs:label Poor wound healing Slechte wondgenezing CANDIDATE -en nl HP:0001058 IAO:0000115 A reduced ability to heal cutaneous wounds A reduced ability to heal cutaneous wounds NOT_TRANSLATED -en nl HP:0033826 rdfs:label Inferior mediastinal mass Inferior mediastinal mass NOT_TRANSLATED -en nl HP:0033826 IAO:0000115 A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) NOT_TRANSLATED -en nl HP:0001059 rdfs:label Pterygium Pterygium CANDIDATE -en nl HP:0001059 IAO:0000115 Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits NOT_TRANSLATED -en nl HP:0033827 rdfs:label Anterior mediastinal mass Anterior mediastinal mass NOT_TRANSLATED -en nl HP:0033827 IAO:0000115 A type of inferior mediastinal mass that is located in front of the pericardium A type of inferior mediastinal mass that is located in front of the pericardium NOT_TRANSLATED -en nl HP:0001060 rdfs:label Axillary pterygium Axillaire pterygia CANDIDATE -en nl HP:0001060 IAO:0000115 Presence of a cutaneous membrane (flap) in the armpit Presence of a cutaneous membrane (flap) in the armpit NOT_TRANSLATED -en nl HP:0033828 rdfs:label Middle mediastinal mass Middle mediastinal mass NOT_TRANSLATED -en nl HP:0033828 IAO:0000115 A type of inferior mediastinal mass that is located withinthe pericardium A type of inferior mediastinal mass that is located withinthe pericardium NOT_TRANSLATED -en nl HP:0001061 rdfs:label Acne Acne CANDIDATE -en nl HP:0001061 IAO:0000115 A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts) A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts) NOT_TRANSLATED -en nl HP:0033829 rdfs:label Posterior mediastinal mass Posterior mediastinal mass NOT_TRANSLATED -en nl HP:0033829 IAO:0000115 A type of inferior mediastinal mass that is located behind the pericardium A type of inferior mediastinal mass that is located behind the pericardium NOT_TRANSLATED -en nl HP:0001062 rdfs:label Atypical nevus Atypische naevus CANDIDATE -en nl HP:0001062 IAO:0000115 A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink NOT_TRANSLATED -en nl HP:0033830 rdfs:label Hyperdense pulmonary mass Hyperdense pulmonary mass NOT_TRANSLATED -en nl HP:0033830 IAO:0000115 A type of pulmonary mass with high attenuation A type of pulmonary mass with high attenuation NOT_TRANSLATED -en nl HP:0001063 rdfs:label Acrocyanosis Acrocyanose CANDIDATE -en nl HP:0001063 IAO:0000115 Bluish discoloration of the skin of the hands or feet Bluish discoloration of the skin of the hands or feet NOT_TRANSLATED -en nl HP:0033831 rdfs:label Cavitating pulmonary mass Cavitating pulmonary mass NOT_TRANSLATED -en nl HP:0033831 IAO:0000115 Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm NOT_TRANSLATED -en nl HP:0033832 rdfs:label Livedo Livedo NOT_TRANSLATED -en nl HP:0033832 IAO:0000115 A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels NOT_TRANSLATED -en nl HP:0001065 rdfs:label Striae distensae Striae distensae CANDIDATE -en nl HP:0001065 IAO:0000115 Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders NOT_TRANSLATED -en nl HP:0033833 rdfs:label Elevated circulating soluble CD25 concentration Elevated circulating soluble CD25 concentration NOT_TRANSLATED -en nl HP:0033833 IAO:0000115 Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response NOT_TRANSLATED -en nl HP:0033834 rdfs:label Malaise Malaise NOT_TRANSLATED -en nl HP:0033834 IAO:0000115 A feeling of general discomfort, weakness, or lack of health A feeling of general discomfort, weakness, or lack of health NOT_TRANSLATED -en nl HP:0001067 rdfs:label Neurofibromas Neurofibromen CANDIDATE -en nl HP:0001067 IAO:0000115 The presence of multiple cutaneous neurofibromas The presence of multiple cutaneous neurofibromas NOT_TRANSLATED -en nl HP:0033835 rdfs:label Abnormal renal vascular morphology Abnormal renal vascular morphology NOT_TRANSLATED -en nl HP:0033835 IAO:0000115 Anomalous structure of a blood vessel in the kidney Anomalous structure of a blood vessel in the kidney NOT_TRANSLATED -en nl HP:0033836 rdfs:label Abnormal intrarenal artery morphology Abnormal intrarenal artery morphology NOT_TRANSLATED -en nl HP:0033836 IAO:0000115 An anomalous structure of an artery located in the kidney An anomalous structure of an artery located in the kidney NOT_TRANSLATED -en nl HP:0001069 rdfs:label Episodic hyperhidrosis Episodische hyperhidrose CANDIDATE -en nl HP:0001069 IAO:0000115 Intermittent episodes of abnormally increased perspiration Intermittent episodes of abnormally increased perspiration NOT_TRANSLATED -en nl HP:0033837 rdfs:label Abnormal arcuate artery morphology Abnormal arcuate artery morphology NOT_TRANSLATED -en nl HP:0033837 IAO:0000115 Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla NOT_TRANSLATED -en nl HP:0001070 rdfs:label Mottled pigmentation Gevlekt pigmentatie CANDIDATE -en nl HP:0001070 IAO:0000115 Patchy and irregular skin pigmentation Patchy and irregular skin pigmentation NOT_TRANSLATED -en nl HP:0033838 rdfs:label Dysphoria Dysphoria NOT_TRANSLATED -en nl HP:0033838 IAO:0000115 A state of feeling very unhappy, uneasy, or dissatisfied A state of feeling very unhappy, uneasy, or dissatisfied NOT_TRANSLATED -en nl HP:0001071 rdfs:label Angiokeratoma corporis diffusum Angiokeratoma corporis diffusum CANDIDATE -en nl HP:0001071 IAO:0000115 Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation NOT_TRANSLATED -en nl HP:0033839 rdfs:label Testicular pain Testicular pain NOT_TRANSLATED -en nl HP:0033839 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes NOT_TRANSLATED -en nl HP:0001072 rdfs:label Thickened skin Verdikte huid CANDIDATE -en nl HP:0001072 IAO:0000115 Laminar thickening of skin Laminar thickening of skin NOT_TRANSLATED -en nl HP:0033840 rdfs:label Postmenopausal bleeding Postmenopausal bleeding NOT_TRANSLATED -en nl HP:0033840 IAO:0000115 Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy NOT_TRANSLATED -en nl HP:0001073 rdfs:label Cigarette-paper scars Sigarettenpapier littekens CANDIDATE -en nl HP:0001073 IAO:0000115 Thin (atrophic) and wide scars Thin (atrophic) and wide scars NOT_TRANSLATED -en nl HP:0033841 rdfs:label Ocular pruritus Ocular pruritus NOT_TRANSLATED -en nl HP:0033841 IAO:0000115 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye NOT_TRANSLATED -en nl HP:0001074 rdfs:label Atypical nevi in non-sun exposed areas Atypische naevi in niet-zon blootgestelde plekken CANDIDATE -en nl HP:0033842 rdfs:label Early satiety Early satiety NOT_TRANSLATED -en nl HP:0033842 IAO:0000115 The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food NOT_TRANSLATED -en nl HP:0001075 rdfs:label Atrophic scars Atrofische littekens CANDIDATE -en nl HP:0001075 IAO:0000115 Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin NOT_TRANSLATED -en nl HP:0033843 rdfs:label Postprandial fullness Postprandial fullness NOT_TRANSLATED -en nl HP:0033843 IAO:0000115 Feeling excessively full after meals Feeling excessively full after meals NOT_TRANSLATED -en nl HP:0001076 rdfs:label Glabellar hemangioma Hemangioom tussen de ogen CANDIDATE -en nl HP:0033844 rdfs:label Tachyphrenia Tachyphrenia NOT_TRANSLATED -en nl HP:0033844 IAO:0000115 The sensation that thoughts are moving too quickly The sensation that thoughts are moving too quickly NOT_TRANSLATED -en nl HP:0033845 rdfs:label Sense of impending doom Sense of impending doom NOT_TRANSLATED -en nl HP:0033845 IAO:0000115 A feeling that something life-threatening or tragic is about to occur A feeling that something life-threatening or tragic is about to occur NOT_TRANSLATED -en nl HP:0033846 rdfs:label Spinal hypomyelination Spinal hypomyelination NOT_TRANSLATED -en nl HP:0033846 IAO:0000115 Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis NOT_TRANSLATED -en nl HP:0033847 rdfs:label Phantageusia Phantageusia NOT_TRANSLATED -en nl HP:0033847 IAO:0000115 A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment NOT_TRANSLATED -en nl HP:0001080 rdfs:label Biliary tract abnormality Afwijking van de galwegen CANDIDATE -en nl HP:0001080 IAO:0000115 An abnormality of the biliary tree An abnormality of the biliary tree NOT_TRANSLATED -en nl HP:0033848 rdfs:label Receptive aphasia Receptive aphasia NOT_TRANSLATED -en nl HP:0033848 IAO:0000115 A type of aphasia that is characterized by impaired language comprehension A type of aphasia that is characterized by impaired language comprehension NOT_TRANSLATED -en nl HP:0001081 rdfs:label Cholelithiasis Cholelithiasis CANDIDATE -en nl HP:0001081 IAO:0000115 Hard, pebble-like deposits that form within the gallbladder Hard, pebble-like deposits that form within the gallbladder NOT_TRANSLATED -en nl HP:0033849 rdfs:label Bilingual aphasia Bilingual aphasia NOT_TRANSLATED -en nl HP:0033849 IAO:0000115 The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages NOT_TRANSLATED -en nl HP:0001082 rdfs:label Cholecystitis Galblaasontsteking (Cholecystitis) CANDIDATE -en nl HP:0001082 IAO:0000115 The presence of inflammatory changes in the gallbladder The presence of inflammatory changes in the gallbladder NOT_TRANSLATED -en nl HP:0033850 rdfs:label Coldness Coldness NOT_TRANSLATED -en nl HP:0033850 IAO:0000115 Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness NOT_TRANSLATED -en nl HP:0001083 rdfs:label Ectopia lentis Ectopia lentis CANDIDATE -en nl HP:0001083 IAO:0000115 Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation NOT_TRANSLATED -en nl HP:0033851 rdfs:label Oculomotor synkinesis Oculomotor synkinesis NOT_TRANSLATED -en nl HP:0033851 IAO:0000115 Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction NOT_TRANSLATED -en nl HP:0001084 rdfs:label Corneal arcus Arcus senilis CANDIDATE -en nl HP:0001084 IAO:0000115 A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years NOT_TRANSLATED -en nl HP:0033852 rdfs:label Abnormal intrarenal vein morphology Abnormal intrarenal vein morphology NOT_TRANSLATED -en nl HP:0033852 IAO:0000115 Abnormal structure of a vein located inside the kidney parenchyma Abnormal structure of a vein located inside the kidney parenchyma NOT_TRANSLATED -en nl HP:0001085 rdfs:label Papilledema Papil oedeem CANDIDATE -en nl HP:0001085 IAO:0000115 Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure NOT_TRANSLATED -en nl HP:0033853 rdfs:label Abnormal arcuate vein morphology Abnormal arcuate vein morphology NOT_TRANSLATED -en nl HP:0033853 IAO:0000115 Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla) Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla) NOT_TRANSLATED -en nl HP:0033854 rdfs:label Abnormal interlobular vein morphology Abnormal interlobular vein morphology NOT_TRANSLATED -en nl HP:0033854 IAO:0000115 Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct) Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct) NOT_TRANSLATED -en nl HP:0001087 rdfs:label Developmental glaucoma Aangeboren glaucoom CANDIDATE -en nl HP:0001087 IAO:0000115 Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma NOT_TRANSLATED -en nl HP:0033855 rdfs:label Abnormal interlobular vein lumen morphology Abnormal interlobular vein lumen morphology NOT_TRANSLATED -en nl HP:0033855 IAO:0000115 Any structural anomaly located in the the inside space of the interlobular veins of the kidney Any structural anomaly located in the the inside space of the interlobular veins of the kidney NOT_TRANSLATED -en nl HP:0001088 rdfs:label Brushfield spots Brushfield vlekken CANDIDATE -en nl HP:0001088 IAO:0000115 The presence of whitish spots in a ring-like arrangement at the periphery of the iris The presence of whitish spots in a ring-like arrangement at the periphery of the iris NOT_TRANSLATED -en nl HP:0033856 rdfs:label Cholesterol emboli within interlobular vein lumen Cholesterol emboli within interlobular vein lumen NOT_TRANSLATED -en nl HP:0033856 IAO:0000115 Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED -en nl HP:0001089 rdfs:label Iris atrophy Atrofie van de Iris CANDIDATE -en nl HP:0001089 IAO:0000115 Loss of iris tissue (atrophy) Loss of iris tissue (atrophy) NOT_TRANSLATED -en nl HP:0033857 rdfs:label Intraluminal thrombi within interlobular veins Intraluminal thrombi within interlobular veins NOT_TRANSLATED -en nl HP:0033857 IAO:0000115 Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney NOT_TRANSLATED -en nl HP:0001090 rdfs:label Abnormally large globe Grote ogen CANDIDATE -en nl HP:0001090 IAO:0000115 Diffusely large eye (with megalocornea) without glaucoma Diffusely large eye (with megalocornea) without glaucoma NOT_TRANSLATED -en nl HP:0033858 rdfs:label Organized thrombi within interlobular vein lumen Organized thrombi within interlobular vein lumen NOT_TRANSLATED -en nl HP:0033858 IAO:0000115 Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney NOT_TRANSLATED -en nl HP:0033859 rdfs:label Abnormal peritubular capillary morphology Abnormal peritubular capillary morphology NOT_TRANSLATED -en nl HP:0033859 IAO:0000115 Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, NOT_TRANSLATED -en nl HP:0001092 rdfs:label Absent lacrimal punctum Afwezig punctum lacrimale CANDIDATE -en nl HP:0001092 IAO:0000115 No identifiable superior and/or inferior lacrimal punctum No identifiable superior and/or inferior lacrimal punctum NOT_TRANSLATED -en nl HP:0033860 rdfs:label Abnormal cortical peritubular capillary morphology Abnormal cortical peritubular capillary morphology NOT_TRANSLATED -en nl HP:0033860 IAO:0000115 Anomalous structure of the peritubular capillaries located in the cortex of the kidney Anomalous structure of the peritubular capillaries located in the cortex of the kidney NOT_TRANSLATED -en nl HP:0001093 rdfs:label Optic nerve dysplasia Dysplasie van de oogzenuw CANDIDATE -en nl HP:0001093 IAO:0000115 The presence of developmental dysplasia of the optic nerve The presence of developmental dysplasia of the optic nerve NOT_TRANSLATED -en nl HP:0033861 rdfs:label Multilamellation of cortical peritubular capillary basement membranes Multilamellation of cortical peritubular capillary basement membranes NOT_TRANSLATED -en nl HP:0033861 IAO:0000115 Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers NOT_TRANSLATED -en nl HP:0001094 rdfs:label Iridocyclitis Iridocyclitis CANDIDATE -en nl HP:0001094 IAO:0000115 A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body NOT_TRANSLATED -en nl HP:0033862 rdfs:label Cortical peritubular capillaritis Cortical peritubular capillaritis NOT_TRANSLATED -en nl HP:0033862 IAO:0000115 Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells NOT_TRANSLATED -en nl HP:0001095 rdfs:label Hypertensive retinopathy Hypertensieve retinopathie CANDIDATE -en nl HP:0033863 rdfs:label Abnormal cortical peritubular capillary lumen morphology Abnormal cortical peritubular capillary lumen morphology NOT_TRANSLATED -en nl HP:0033863 IAO:0000115 Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney NOT_TRANSLATED -en nl HP:0001096 rdfs:label Keratoconjunctivitis Keratoconjunctivitis CANDIDATE -en nl HP:0001096 IAO:0000115 Inflammation of the cornea and conjunctiva Inflammation of the cornea and conjunctiva NOT_TRANSLATED -en nl HP:0033864 rdfs:label Abnormal medullary peritubular capillary morphology Abnormal medullary peritubular capillary morphology NOT_TRANSLATED -en nl HP:0033864 IAO:0000115 Anomalous structure of the peritubular capillaries located in the medulla of the kidney Anomalous structure of the peritubular capillaries located in the medulla of the kidney NOT_TRANSLATED -en nl HP:0001097 rdfs:label Keratoconjunctivitis sicca Keratoconjunctivitis sicca CANDIDATE -en nl HP:0001097 IAO:0000115 Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids NOT_TRANSLATED -en nl HP:0033865 rdfs:label Medullary peritubular capillaritis Medullary peritubular capillaritis NOT_TRANSLATED -en nl HP:0033865 IAO:0000115 Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells NOT_TRANSLATED -en nl HP:0001098 rdfs:label Abnormal fundus morphology Afwijking van de maagwand CANDIDATE -en nl HP:0001098 IAO:0000115 Any structural abnormality of the fundus of the eye Any structural abnormality of the fundus of the eye NOT_TRANSLATED -en nl HP:0033866 rdfs:label Medullary peritubular capillary erythrocyte congestion Medullary peritubular capillary erythrocyte congestion NOT_TRANSLATED -en nl HP:0033866 IAO:0000115 Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open) Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open) NOT_TRANSLATED -en nl HP:0001099 rdfs:label Fundus atrophy Atrofie van de maagwand CANDIDATE -en nl HP:0033867 rdfs:label Multilamellation of medullary peritubular capillary basement membranes Multilamellation of medullary peritubular capillary basement membranes NOT_TRANSLATED -en nl HP:0033867 IAO:0000115 Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers NOT_TRANSLATED -en nl HP:0001100 rdfs:label Heterochromia iridis Iris-heterochromie CANDIDATE -en nl HP:0001100 IAO:0000115 Heterochromia iridis is a difference in the color of the iris in the two eyes Heterochromia iridis is a difference in the color of the iris in the two eyes NOT_TRANSLATED -en nl HP:0033868 rdfs:label Abnormal medullary peritubular capillary lumen morphology Abnormal medullary peritubular capillary lumen morphology NOT_TRANSLATED -en nl HP:0033868 IAO:0000115 Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney NOT_TRANSLATED -en nl HP:0001101 rdfs:label Iritis Iritis CANDIDATE -en nl HP:0001101 IAO:0000115 Inflammation of the iris Inflammation of the iris NOT_TRANSLATED -en nl HP:0033869 rdfs:label Medullary peritubular capillary lumen cholesterol emboli Medullary peritubular capillary lumen cholesterol emboli NOT_TRANSLATED -en nl HP:0033869 IAO:0000115 Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED -en nl HP:0001102 rdfs:label Angioid streaks of the fundus Angioide strepen van de retina CANDIDATE -en nl HP:0001102 IAO:0000115 Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic NOT_TRANSLATED -en nl HP:0033870 rdfs:label Medullary peritubular capillary intraluminal thrombi Medullary peritubular capillary intraluminal thrombi NOT_TRANSLATED -en nl HP:0033870 IAO:0000115 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney NOT_TRANSLATED -en nl HP:0001103 rdfs:label Abnormal macular morphology Afwijking van de macula CANDIDATE -en nl HP:0001103 IAO:0000115 A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina NOT_TRANSLATED -en nl HP:0033871 rdfs:label Medullary peritubular capillary lumen organized thrombi Medullary peritubular capillary lumen organized thrombi NOT_TRANSLATED -en nl HP:0033871 IAO:0000115 Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney NOT_TRANSLATED -en nl HP:0001104 rdfs:label Macular hypoplasia Maculaire hypoplasie CANDIDATE -en nl HP:0001104 IAO:0000115 Underdevelopment of the macula lutea Underdevelopment of the macula lutea NOT_TRANSLATED -en nl HP:0033872 rdfs:label Cortical peritubular capillary lumen cholesterol emboli Cortical peritubular capillary lumen cholesterol emboli NOT_TRANSLATED -en nl HP:0033872 IAO:0000115 Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED -en nl HP:0001105 rdfs:label Retinal atrophy Retinale atrofie CANDIDATE -en nl HP:0001105 IAO:0000115 Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss NOT_TRANSLATED -en nl HP:0033873 rdfs:label Cortical peritubular capillary intraluminal thrombi Cortical peritubular capillary intraluminal thrombi NOT_TRANSLATED -en nl HP:0033873 IAO:0000115 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney NOT_TRANSLATED -en nl HP:0001106 rdfs:label Periorbital hyperpigmentation Periorbitale hyperpigmentatie CANDIDATE -en nl HP:0001106 IAO:0000115 Increased pigmentation of the skin in the region surrounding the orbit of the eye Increased pigmentation of the skin in the region surrounding the orbit of the eye NOT_TRANSLATED -en nl HP:0033874 rdfs:label Cortical peritubular capillary lumen organized thrombi Cortical peritubular capillary lumen organized thrombi NOT_TRANSLATED -en nl HP:0033874 IAO:0000115 Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney NOT_TRANSLATED -en nl HP:0001107 rdfs:label Ocular albinism Oculair albinisme CANDIDATE -en nl HP:0001107 IAO:0000115 An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina NOT_TRANSLATED -en nl HP:0033875 rdfs:label Abnormal arcuate vein lumen morphology Abnormal arcuate vein lumen morphology NOT_TRANSLATED -en nl HP:0033875 IAO:0000115 Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney NOT_TRANSLATED -en nl HP:0033876 rdfs:label Arcuate vein lumen cholesterol emboli Arcuate vein lumen cholesterol emboli NOT_TRANSLATED -en nl HP:0033876 IAO:0000115 Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED -en nl HP:0033877 rdfs:label Arcuate vein intraluminal thrombi Arcuate vein intraluminal thrombi NOT_TRANSLATED -en nl HP:0033877 IAO:0000115 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0033878 rdfs:label Arcuate vein lumen organized thrombi Arcuate vein lumen organized thrombi NOT_TRANSLATED -en nl HP:0033878 IAO:0000115 Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0033879 rdfs:label Abnormal arcuate vein intima/media morphology Abnormal arcuate vein intima/media morphology NOT_TRANSLATED -en nl HP:0033879 IAO:0000115 Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0001112 rdfs:label Leber optic atrophy Lebers opticusatrofie CANDIDATE -en nl HP:0001112 IAO:0000115 Degeneration of retinal ganglion cells and their axons Degeneration of retinal ganglion cells and their axons NOT_TRANSLATED -en nl HP:0033880 rdfs:label Arcuate vein intimal mucoid edema Arcuate vein intimal mucoid edema NOT_TRANSLATED -en nl HP:0033880 IAO:0000115 Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining NOT_TRANSLATED -en nl HP:0033881 rdfs:label Arcuate vein intimal/medial myxomatous degeneration Arcuate vein intimal/medial myxomatous degeneration NOT_TRANSLATED -en nl HP:0033881 IAO:0000115 Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney NOT_TRANSLATED -en nl HP:0001114 rdfs:label Xanthelasma Xanthelasma CANDIDATE -en nl HP:0001114 IAO:0000115 The presence of xanthomata in the skin of the eyelid The presence of xanthomata in the skin of the eyelid NOT_TRANSLATED -en nl HP:0033882 rdfs:label Arcuate vein intima/medial amyloidosis Arcuate vein intima/medial amyloidosis NOT_TRANSLATED -en nl HP:0033882 IAO:0000115 Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED -en nl HP:0001115 rdfs:label Posterior polar cataract Posterieur polair cataract CANDIDATE -en nl HP:0001115 IAO:0000115 A polar cataract that affects the posterior pole of the lens A polar cataract that affects the posterior pole of the lens NOT_TRANSLATED -en nl HP:0033883 rdfs:label Abnormal cortical radial artery morphology Abnormal cortical radial artery morphology NOT_TRANSLATED -en nl HP:0033883 IAO:0000115 Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney NOT_TRANSLATED -en nl HP:0001116 rdfs:label Macular coloboma Maculair coloboom CANDIDATE -en nl HP:0001116 IAO:0000115 A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented NOT_TRANSLATED -en nl HP:0033884 rdfs:label Abnormal cortical radial artery lumen morphology Abnormal cortical radial artery lumen morphology NOT_TRANSLATED -en nl HP:0033884 IAO:0000115 Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney NOT_TRANSLATED -en nl HP:0001117 rdfs:label Sudden loss of visual acuity Plotseling verlies van gezichtsscherpte CANDIDATE -en nl HP:0001117 IAO:0000115 Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy NOT_TRANSLATED -en nl HP:0033885 rdfs:label Cortical radial artery lumen cholesterol emboli Cortical radial artery lumen cholesterol emboli NOT_TRANSLATED -en nl HP:0033885 IAO:0000115 Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED -en nl HP:0001118 rdfs:label Juvenile cataract Juveniel cataract CANDIDATE -en nl HP:0001118 IAO:0000115 A type of cataract that is not apparent at birth but that arises in childhood or adolescence A type of cataract that is not apparent at birth but that arises in childhood or adolescence NOT_TRANSLATED -en nl HP:0033886 rdfs:label Abnormal arcuate artery intima/media morphology Abnormal arcuate artery intima/media morphology NOT_TRANSLATED -en nl HP:0033886 IAO:0000115 Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla NOT_TRANSLATED -en nl HP:0001119 rdfs:label Keratoglobus Keratoglobus CANDIDATE -en nl HP:0001119 IAO:0000115 Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea NOT_TRANSLATED -en nl HP:0033887 rdfs:label Cortical radial artery intimal/medial amyloidosis Cortical radial artery intimal/medial amyloidosis NOT_TRANSLATED -en nl HP:0033887 IAO:0000115 Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED -en nl HP:0001120 rdfs:label Abnormality of corneal size Afwijking van corneale grootte CANDIDATE -en nl HP:0001120 IAO:0000115 Any abnormality of the size or morphology of the cornea Any abnormality of the size or morphology of the cornea NOT_TRANSLATED -en nl HP:0033888 rdfs:label Abnormal cortical radial artery intima/media morphology Abnormal cortical radial artery intima/media morphology NOT_TRANSLATED -en nl HP:0033888 IAO:0000115 Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0033889 rdfs:label Abnormal renal arteriole morphology Abnormal renal arteriole morphology NOT_TRANSLATED -en nl HP:0033889 IAO:0000115 Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents NOT_TRANSLATED -en nl HP:0033890 rdfs:label Abnormal renal arteriole lumen morphology Abnormal renal arteriole lumen morphology NOT_TRANSLATED -en nl HP:0033890 IAO:0000115 Abnormal structural characteristics of the interior space (lumen) of renal arterioles Abnormal structural characteristics of the interior space (lumen) of renal arterioles NOT_TRANSLATED -en nl HP:0001123 rdfs:label Visual field defect Gezichtsveld defect CANDIDATE -en nl HP:0033891 rdfs:label Renal arteriolar lumen cholesterol emboli Renal arteriolar lumen cholesterol emboli NOT_TRANSLATED -en nl HP:0033891 IAO:0000115 Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED -en nl HP:0033892 rdfs:label Abnormal renal arteriole intima/media morphology Abnormal renal arteriole intima/media morphology NOT_TRANSLATED -en nl HP:0033892 IAO:0000115 Any structural anomaly located in the inner or middle layer of the arterioles of the kidney Any structural anomaly located in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001125 rdfs:label Transient unilateral blurring of vision Tijdelijke unilaterale vervaging van visie CANDIDATE -en nl HP:0001125 IAO:0000115 Transient blurring of vision associated with the aura phase of migraine Transient blurring of vision associated with the aura phase of migraine NOT_TRANSLATED -en nl HP:0033893 rdfs:label Renal arteriolar lumen organized thrombi Renal arteriolar lumen organized thrombi NOT_TRANSLATED -en nl HP:0033893 IAO:0000115 Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001126 rdfs:label Cryptophthalmos Cryptofthalmos CANDIDATE -en nl HP:0001126 IAO:0000115 Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity NOT_TRANSLATED -en nl HP:0033894 rdfs:label Renal arteriolar intraluminal thrombi Renal arteriolar intraluminal thrombi NOT_TRANSLATED -en nl HP:0033894 IAO:0000115 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0033895 rdfs:label Abnormal renal arteriole endothelium morphology Abnormal renal arteriole endothelium morphology NOT_TRANSLATED -en nl HP:0033895 IAO:0000115 Any structural anomaly of the lining (endothelium) of the arterioles of the kidney Any structural anomaly of the lining (endothelium) of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001128 rdfs:label Trichiasis Trichiasis CANDIDATE -en nl HP:0001128 IAO:0000115 Inversion and rubbing of the eyelashes against the globe of the eye Inversion and rubbing of the eyelashes against the globe of the eye NOT_TRANSLATED -en nl HP:0033896 rdfs:label Abnormal arcuate artery lumen morphology Abnormal arcuate artery lumen morphology NOT_TRANSLATED -en nl HP:0033896 IAO:0000115 Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney NOT_TRANSLATED -en nl HP:0001129 rdfs:label Large central visual field defect Groot centraal gezichtsveld defect CANDIDATE -en nl HP:0033897 rdfs:label Arcuate artery lumen cholesterol emboli Arcuate artery lumen cholesterol emboli NOT_TRANSLATED -en nl HP:0033897 IAO:0000115 Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED -en nl HP:0033898 rdfs:label Arcuate artery intraluminal thrombi Arcuate artery intraluminal thrombi NOT_TRANSLATED -en nl HP:0033898 IAO:0000115 Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney NOT_TRANSLATED -en nl HP:0001131 rdfs:label Corneal dystrophy Corneadystrofie CANDIDATE -en nl HP:0001131 IAO:0000115 The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea NOT_TRANSLATED -en nl HP:0033899 rdfs:label Arcuate artery lumen organized thrombi Arcuate artery lumen organized thrombi NOT_TRANSLATED -en nl HP:0033899 IAO:0000115 Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney NOT_TRANSLATED -en nl HP:0001132 rdfs:label Lens subluxation Subluxatie van de lens CANDIDATE -en nl HP:0001132 IAO:0000115 Partial dislocation of the lens of the eye Partial dislocation of the lens of the eye NOT_TRANSLATED -en nl HP:0033900 rdfs:label Renal arteriole intima/media amyloidosis Renal arteriole intima/media amyloidosis NOT_TRANSLATED -en nl HP:0033900 IAO:0000115 Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED -en nl HP:0001133 rdfs:label Constriction of peripheral visual field Vernauwing van perifeer gezichtsveld CANDIDATE -en nl HP:0001133 IAO:0000115 An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye NOT_TRANSLATED -en nl HP:0033901 rdfs:label Abnormal arcuate artery endothelium morphology Abnormal arcuate artery endothelium morphology NOT_TRANSLATED -en nl HP:0033901 IAO:0000115 Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney NOT_TRANSLATED -en nl HP:0001134 rdfs:label Anterior polar cataract Anterieur polair cataract CANDIDATE -en nl HP:0001134 IAO:0000115 A polar cataract that affects the anterior pole of the lens A polar cataract that affects the anterior pole of the lens NOT_TRANSLATED -en nl HP:0033902 rdfs:label Arcuate artery endotheliosis Arcuate artery endotheliosis NOT_TRANSLATED -en nl HP:0033902 IAO:0000115 Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling NOT_TRANSLATED -en nl HP:0001135 rdfs:label Chorioretinal dystrophy Chorioretinale dystrofie CANDIDATE -en nl HP:0033903 rdfs:label Arcuate artery endoarterial hypercellularity Arcuate artery endoarterial hypercellularity NOT_TRANSLATED -en nl HP:0033903 IAO:0000115 Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney NOT_TRANSLATED -en nl HP:0001136 rdfs:label Retinal arteriolar tortuosity Retinale arteriolaire kronkeligheid CANDIDATE -en nl HP:0001136 IAO:0000115 The presence of an increased number of twists and turns of the retinal arterioles The presence of an increased number of twists and turns of the retinal arterioles NOT_TRANSLATED -en nl HP:0033904 rdfs:label Renal arteriole intima/media hyalinosis Renal arteriole intima/media hyalinosis NOT_TRANSLATED -en nl HP:0033904 IAO:0000115 Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis NOT_TRANSLATED -en nl HP:0001137 rdfs:label Alternating esotropia Afwisselende esotropie CANDIDATE -en nl HP:0001137 IAO:0000115 Esotropia in which either eye may be used for fixation Esotropia in which either eye may be used for fixation NOT_TRANSLATED -en nl HP:0033905 rdfs:label Arcuate artery intima/media arteriosclerosis Arcuate artery intima/media arteriosclerosis NOT_TRANSLATED -en nl HP:0033905 IAO:0000115 Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina NOT_TRANSLATED -en nl HP:0001138 rdfs:label Optic neuropathy Optische neuropathie CANDIDATE -en nl HP:0033906 rdfs:label Renal intimal/medial arteriolitis Renal intimal/medial arteriolitis NOT_TRANSLATED -en nl HP:0033906 IAO:0000115 Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural NOT_TRANSLATED -en nl HP:0001139 rdfs:label Choroideremia Choroideremie CANDIDATE -en nl HP:0033907 rdfs:label Renal arteriole intima/media arteriolosclerosis Renal arteriole intima/media arteriolosclerosis NOT_TRANSLATED -en nl HP:0033907 IAO:0000115 Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina NOT_TRANSLATED -en nl HP:0001140 rdfs:label Limbal dermoid Epibulbair dermoïd CANDIDATE -en nl HP:0001140 IAO:0000115 A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid) A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid) NOT_TRANSLATED -en nl HP:0033908 rdfs:label Renal arteriole medial atrophy Renal arteriole medial atrophy NOT_TRANSLATED -en nl HP:0033908 IAO:0000115 Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001141 rdfs:label Severely reduced visual acuity Ernstige visuele beperking CANDIDATE -en nl HP:0001141 IAO:0000115 Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation) Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation) NOT_TRANSLATED -en nl HP:0033909 rdfs:label Arcuate vein medial hypertrophy Arcuate vein medial hypertrophy NOT_TRANSLATED -en nl HP:0033909 IAO:0000115 Increased thickness of middle layer of the arcuate veins of the kidney Increased thickness of middle layer of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0001142 rdfs:label Lenticonus Lenticonus CANDIDATE -en nl HP:0001142 IAO:0000115 A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly NOT_TRANSLATED -en nl HP:0033910 rdfs:label Arcuate vein medial atrophy Arcuate vein medial atrophy NOT_TRANSLATED -en nl HP:0033910 IAO:0000115 Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0033911 rdfs:label Cortical radial artery medial hypertrophy Cortical radial artery medial hypertrophy NOT_TRANSLATED -en nl HP:0033911 IAO:0000115 Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0001144 rdfs:label Orbital cyst Orbitale cyste CANDIDATE -en nl HP:0001144 IAO:0000115 Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium) Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium) NOT_TRANSLATED -en nl HP:0033912 rdfs:label Cortical radial artery medial atrophy Cortical radial artery medial atrophy NOT_TRANSLATED -en nl HP:0033912 IAO:0000115 Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0033913 rdfs:label Cortical radial artery medial/intimal arteriitis Cortical radial artery medial/intimal arteriitis NOT_TRANSLATED -en nl HP:0033913 IAO:0000115 Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0033914 rdfs:label Arcuate artery intima/media amyloidosis Arcuate artery intima/media amyloidosis NOT_TRANSLATED -en nl HP:0033914 IAO:0000115 Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED -en nl HP:0001147 rdfs:label Retinal exudate Retinaal exsudaat CANDIDATE -en nl HP:0001147 IAO:0000115 Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina NOT_TRANSLATED -en nl HP:0033915 rdfs:label Arcuate artery intimal mucoid edema Arcuate artery intimal mucoid edema NOT_TRANSLATED -en nl HP:0033915 IAO:0000115 Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining NOT_TRANSLATED -en nl HP:0033916 rdfs:label Medial/intimal arcuate venosclerosis Medial/intimal arcuate venosclerosis NOT_TRANSLATED -en nl HP:0033916 IAO:0000115 Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins NOT_TRANSLATED -en nl HP:0001149 rdfs:label Lattice corneal dystrophy Lattice corneadystrofie CANDIDATE -en nl HP:0001149 IAO:0000115 The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea NOT_TRANSLATED -en nl HP:0033917 rdfs:label Arcuate intimal/medial venulitis Arcuate intimal/medial venulitis NOT_TRANSLATED -en nl HP:0033917 IAO:0000115 Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural NOT_TRANSLATED -en nl HP:0033918 rdfs:label Renal arteriole medial hypertrophy Renal arteriole medial hypertrophy NOT_TRANSLATED -en nl HP:0033918 IAO:0000115 Increased thickness of middle layer of the arterioles of the kidney Increased thickness of middle layer of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001151 rdfs:label Impaired horizontal smooth pursuit Vertraagde horizontale gladde vervolging CANDIDATE -en nl HP:0001151 IAO:0000115 An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects NOT_TRANSLATED -en nl HP:0033919 rdfs:label Medial/intimal arcuate venulitis Medial/intimal arcuate venulitis NOT_TRANSLATED -en nl HP:0033919 IAO:0000115 Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural NOT_TRANSLATED -en nl HP:0001152 rdfs:label Saccadic smooth pursuit Saccadische gladde vervolging CANDIDATE -en nl HP:0001152 IAO:0000115 An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements NOT_TRANSLATED -en nl HP:0033920 rdfs:label Renal arteriole intima/media storage material accumulation Renal arteriole intima/media storage material accumulation NOT_TRANSLATED -en nl HP:0033920 IAO:0000115 Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001153 rdfs:label Septate vagina Septate vagina CANDIDATE -en nl HP:0001153 IAO:0000115 The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases NOT_TRANSLATED -en nl HP:0033921 rdfs:label Renal arteriole endoarterial hypercellularity Renal arteriole endoarterial hypercellularity NOT_TRANSLATED -en nl HP:0033921 IAO:0000115 Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0033922 rdfs:label Renal arteriole leukocytic endoarterial hypercellularity Renal arteriole leukocytic endoarterial hypercellularity NOT_TRANSLATED -en nl HP:0033922 IAO:0000115 A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes) A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes) NOT_TRANSLATED -en nl HP:0001155 rdfs:label Abnormality of the hand Afwijking van de hand CANDIDATE -en nl HP:0001155 IAO:0000115 An abnormality affecting one or both hands An abnormality affecting one or both hands NOT_TRANSLATED -en nl HP:0033923 rdfs:label Renal arteriole foam cell endoarterial hypercellularity Renal arteriole foam cell endoarterial hypercellularity NOT_TRANSLATED -en nl HP:0033923 IAO:0000115 A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen NOT_TRANSLATED -en nl HP:0001156 rdfs:label Brachydactyly Brachydactylie syndroom CANDIDATE -en nl HP:0001156 IAO:0000115 Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here NOT_TRANSLATED -en nl HP:0033924 rdfs:label Renal arteriole neutrophil endoarterial hypercellularity Renal arteriole neutrophil endoarterial hypercellularity NOT_TRANSLATED -en nl HP:0033924 IAO:0000115 A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen NOT_TRANSLATED -en nl HP:0033925 rdfs:label Renal arteriole lymphocyte endoarterial hypercellularity Renal arteriole lymphocyte endoarterial hypercellularity NOT_TRANSLATED -en nl HP:0033925 IAO:0000115 A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen NOT_TRANSLATED -en nl HP:0033926 rdfs:label Renal arteriole intimal/medial multilamellation Renal arteriole intimal/medial multilamellation NOT_TRANSLATED -en nl HP:0033926 IAO:0000115 Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001159 rdfs:label Syndactyly Syndactylie CANDIDATE -en nl HP:0001159 IAO:0000115 "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as ""symphalangism""" "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as ""symphalangism""" NOT_TRANSLATED -en nl HP:0033927 rdfs:label Arcuate artery endoarterial leukocyte hypercellularity Arcuate artery endoarterial leukocyte hypercellularity NOT_TRANSLATED -en nl HP:0033927 IAO:0000115 Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) NOT_TRANSLATED -en nl HP:0033928 rdfs:label Arcuate artery endoarterial foam cell hypercellularity Arcuate artery endoarterial foam cell hypercellularity NOT_TRANSLATED -en nl HP:0033928 IAO:0000115 A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen NOT_TRANSLATED -en nl HP:0001161 rdfs:label Hand polydactyly Polydactylie van de hand CANDIDATE -en nl HP:0001161 IAO:0000115 A kind of polydactyly characterized by the presence of a supernumerary finger or fingers A kind of polydactyly characterized by the presence of a supernumerary finger or fingers NOT_TRANSLATED -en nl HP:0033929 rdfs:label Arcuate artery endoarterial neutrophil hypercellularity Arcuate artery endoarterial neutrophil hypercellularity NOT_TRANSLATED -en nl HP:0033929 IAO:0000115 A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery NOT_TRANSLATED -en nl HP:0001162 rdfs:label Postaxial hand polydactyly Postaxiale hand polydactylie CANDIDATE -en nl HP:0001162 IAO:0000115 Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger) Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger) NOT_TRANSLATED -en nl HP:0033930 rdfs:label Arcuate artery endoarterial lymphocyte hypercellularity Arcuate artery endoarterial lymphocyte hypercellularity NOT_TRANSLATED -en nl HP:0033930 IAO:0000115 A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery NOT_TRANSLATED -en nl HP:0033931 rdfs:label Arcuate artery intima/media necrosis Arcuate artery intima/media necrosis NOT_TRANSLATED -en nl HP:0033931 IAO:0000115 Death of tissue in the inner or middle layer of the arcuate artery of the kidney Death of tissue in the inner or middle layer of the arcuate artery of the kidney NOT_TRANSLATED -en nl HP:0033932 rdfs:label Arcuate artery intima/media coagulative necrosis Arcuate artery intima/media coagulative necrosis NOT_TRANSLATED -en nl HP:0033932 IAO:0000115 A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures NOT_TRANSLATED -en nl HP:0033933 rdfs:label Arcuate artery intima/media liquefactive necrosis Arcuate artery intima/media liquefactive necrosis NOT_TRANSLATED -en nl HP:0033933 IAO:0000115 A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED -en nl HP:0001166 rdfs:label Arachnodactyly Arachnodactylie CANDIDATE -en nl HP:0001166 IAO:0000115 "Abnormally long and slender fingers (""spider fingers"")" "Abnormally long and slender fingers (""spider fingers"")" NOT_TRANSLATED -en nl HP:0033934 rdfs:label Arcuate vein intimal/medial storage material accumulation Arcuate vein intimal/medial storage material accumulation NOT_TRANSLATED -en nl HP:0033934 IAO:0000115 Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0001167 rdfs:label Abnormality of finger Afwijking van vinger CANDIDATE -en nl HP:0001167 IAO:0000115 An anomaly of a finger An anomaly of a finger NOT_TRANSLATED -en nl HP:0033935 rdfs:label Cortical radial artery intima/media necrosis Cortical radial artery intima/media necrosis NOT_TRANSLATED -en nl HP:0033935 IAO:0000115 Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0033936 rdfs:label Cortical radial artery intima/media liquefactive necrosis Cortical radial artery intima/media liquefactive necrosis NOT_TRANSLATED -en nl HP:0033936 IAO:0000115 A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED -en nl HP:0001169 rdfs:label Broad palm Brede palm CANDIDATE -en nl HP:0001169 IAO:0000115 For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length NOT_TRANSLATED -en nl HP:0033937 rdfs:label Cortical radial artery intima/media coagulative necrosis Cortical radial artery intima/media coagulative necrosis NOT_TRANSLATED -en nl HP:0033937 IAO:0000115 A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED -en nl HP:0033938 rdfs:label Renal arteriole intima/media necrosis Renal arteriole intima/media necrosis NOT_TRANSLATED -en nl HP:0033938 IAO:0000115 Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001171 rdfs:label Split hand Ectrodactylie CANDIDATE -en nl HP:0001171 IAO:0000115 A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands NOT_TRANSLATED -en nl HP:0033939 rdfs:label Renal arteriole intima/media liquefactive necrosis Renal arteriole intima/media liquefactive necrosis NOT_TRANSLATED -en nl HP:0033939 IAO:0000115 A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED -en nl HP:0001172 rdfs:label Abnormal thumb morphology Afwijking van de duim CANDIDATE -en nl HP:0001172 IAO:0000115 An abnormal structure of the first digit of the hand An abnormal structure of the first digit of the hand NOT_TRANSLATED -en nl HP:0033940 rdfs:label Renal arteriole intima/media coagulative necrosis Renal arteriole intima/media coagulative necrosis NOT_TRANSLATED -en nl HP:0033940 IAO:0000115 A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED -en nl HP:0033941 rdfs:label Granulomatous arteriolitis of the arteriolar intima/media Granulomatous arteriolitis of the arteriolar intima/media NOT_TRANSLATED -en nl HP:0033941 IAO:0000115 A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries NOT_TRANSLATED -en nl HP:0033942 rdfs:label Arcuate vein medial/intimal necrosis Arcuate vein medial/intimal necrosis NOT_TRANSLATED -en nl HP:0033942 IAO:0000115 Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0033943 rdfs:label Arcuate vein medial/intimal coagulative necrosis Arcuate vein medial/intimal coagulative necrosis NOT_TRANSLATED -en nl HP:0033943 IAO:0000115 A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED -en nl HP:0001176 rdfs:label Large hands Grote handen CANDIDATE -en nl HP:0033944 rdfs:label Arcuate vein medial/intimal liquefactive necrosis Arcuate vein medial/intimal liquefactive necrosis NOT_TRANSLATED -en nl HP:0033944 IAO:0000115 A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED -en nl HP:0001177 rdfs:label Preaxial hand polydactyly Pre-axiale hand polydactylie CANDIDATE -en nl HP:0001177 IAO:0000115 Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits NOT_TRANSLATED -en nl HP:0033945 rdfs:label Arcuate intimal/medial granulomatous venulitis Arcuate intimal/medial granulomatous venulitis NOT_TRANSLATED -en nl HP:0033945 IAO:0000115 A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins NOT_TRANSLATED -en nl HP:0001178 rdfs:label Ulnar claw Ulnaire klauw CANDIDATE -en nl HP:0001178 IAO:0000115 An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm NOT_TRANSLATED -en nl HP:0033946 rdfs:label Arcuate vein intima/media crystal accumulation Arcuate vein intima/media crystal accumulation NOT_TRANSLATED -en nl HP:0033946 IAO:0000115 Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED -en nl HP:0033947 rdfs:label Renal arteriole intima/media crystal accumulation Renal arteriole intima/media crystal accumulation NOT_TRANSLATED -en nl HP:0033947 IAO:0000115 Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED -en nl HP:0001180 rdfs:label Hand oligodactyly Hand oligodactylie CANDIDATE -en nl HP:0001180 IAO:0000115 A developmental defect resulting in the presence of fewer than the normal number of fingers A developmental defect resulting in the presence of fewer than the normal number of fingers NOT_TRANSLATED -en nl HP:0033948 rdfs:label Arcuate artery intima/media arteriitis Arcuate artery intima/media arteriitis NOT_TRANSLATED -en nl HP:0033948 IAO:0000115 Inflammation of the inner or middle layer of the arcuate arteries of the kidney Inflammation of the inner or middle layer of the arcuate arteries of the kidney NOT_TRANSLATED -en nl HP:0001181 rdfs:label Adducted thumb Geadduceerde duim CANDIDATE -en nl HP:0001181 IAO:0000115 In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger NOT_TRANSLATED -en nl HP:0033949 rdfs:label Arcuate artery intima/media granulomatous arteriitis Arcuate artery intima/media granulomatous arteriitis NOT_TRANSLATED -en nl HP:0033949 IAO:0000115 A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries NOT_TRANSLATED -en nl HP:0001182 rdfs:label Tapered finger Taps toelopende vinger CANDIDATE -en nl HP:0001182 IAO:0000115 The gradual reduction in girth of the finger from proximal to distal The gradual reduction in girth of the finger from proximal to distal NOT_TRANSLATED -en nl HP:0033950 rdfs:label Cortical radial artery intraluminal thrombi Cortical radial artery intraluminal thrombi NOT_TRANSLATED -en nl HP:0033950 IAO:0000115 Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0033951 rdfs:label Cortical radial artery intraluminal organized thrombi Cortical radial artery intraluminal organized thrombi NOT_TRANSLATED -en nl HP:0033951 IAO:0000115 Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0033952 rdfs:label Abnormal cortical radial artery endothelium morphology Abnormal cortical radial artery endothelium morphology NOT_TRANSLATED -en nl HP:0033952 IAO:0000115 Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0033953 rdfs:label Cortical radial artery endotheliosis Cortical radial artery endotheliosis NOT_TRANSLATED -en nl HP:0033953 IAO:0000115 Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling NOT_TRANSLATED -en nl HP:0033954 rdfs:label Cortical radial artery hypercellularity Cortical radial artery hypercellularity NOT_TRANSLATED -en nl HP:0033954 IAO:0000115 Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney NOT_TRANSLATED -en nl HP:0001187 rdfs:label Hyperextensibility of the finger joints Hyperextensibiliteit van de vingergewrichten CANDIDATE -en nl HP:0001187 IAO:0000115 The ability of the finger joints to move beyond their normal range of motion The ability of the finger joints to move beyond their normal range of motion NOT_TRANSLATED -en nl HP:0033955 rdfs:label Cortical radial artery leukocyte hypercellularity Cortical radial artery leukocyte hypercellularity NOT_TRANSLATED -en nl HP:0033955 IAO:0000115 A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) NOT_TRANSLATED -en nl HP:0001188 rdfs:label Hand clenching Handknopen CANDIDATE -en nl HP:0001188 IAO:0000115 An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted NOT_TRANSLATED -en nl HP:0033956 rdfs:label Cortical radial artery lymphocyte hypercellularity Cortical radial artery lymphocyte hypercellularity NOT_TRANSLATED -en nl HP:0033956 IAO:0000115 A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries NOT_TRANSLATED -en nl HP:0033957 rdfs:label Cortical radial artery neutrophil hypercellularity Cortical radial artery neutrophil hypercellularity NOT_TRANSLATED -en nl HP:0033957 IAO:0000115 A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries NOT_TRANSLATED -en nl HP:0033958 rdfs:label Cortical radial artery foam cell hypercellularity Cortical radial artery foam cell hypercellularity NOT_TRANSLATED -en nl HP:0033958 IAO:0000115 A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney NOT_TRANSLATED -en nl HP:0001191 rdfs:label Abnormal carpal morphology Afwijking van de carpale botten CANDIDATE -en nl HP:0001191 IAO:0000115 An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate) An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate) NOT_TRANSLATED -en nl HP:0033959 rdfs:label Cortical radial artery intima/media arteriosclerosis Cortical radial artery intima/media arteriosclerosis NOT_TRANSLATED -en nl HP:0033959 IAO:0000115 Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina NOT_TRANSLATED -en nl HP:0033960 rdfs:label Cortical radial artery intimal mucoid edema Cortical radial artery intimal mucoid edema NOT_TRANSLATED -en nl HP:0033960 IAO:0000115 Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining NOT_TRANSLATED -en nl HP:0001193 rdfs:label Ulnar deviation of the hand or of fingers of the hand Ulnaire deviatie van de hand of vingers van de hand CANDIDATE -en nl HP:0033961 rdfs:label Cortical radial artery intima/media multilamellation Cortical radial artery intima/media multilamellation NOT_TRANSLATED -en nl HP:0033961 IAO:0000115 Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers NOT_TRANSLATED -en nl HP:0001194 rdfs:label Abnormalities of placenta or umbilical cord Afwijkingen van de placenta of de navelstreng CANDIDATE -en nl HP:0001194 IAO:0000115 An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta) An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta) NOT_TRANSLATED -en nl HP:0033962 rdfs:label Cortical radial artery medial/intimal granulomatous arteriitis Cortical radial artery medial/intimal granulomatous arteriitis NOT_TRANSLATED -en nl HP:0033962 IAO:0000115 A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries NOT_TRANSLATED -en nl HP:0001195 rdfs:label Single umbilical artery Enkele navelstrengslagader CANDIDATE -en nl HP:0001195 IAO:0000115 Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord NOT_TRANSLATED -en nl HP:0033963 rdfs:label Abnormal interlobular vein intima/media morphology Abnormal interlobular vein intima/media morphology NOT_TRANSLATED -en nl HP:0033963 IAO:0000115 Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney NOT_TRANSLATED -en nl HP:0001196 rdfs:label Short umbilical cord Korte navelstreng CANDIDATE -en nl HP:0001196 IAO:0000115 Decreased length of the umbilical cord Decreased length of the umbilical cord NOT_TRANSLATED -en nl HP:0033964 rdfs:label Interlobular intima/media venosclerosis Interlobular intima/media venosclerosis NOT_TRANSLATED -en nl HP:0033964 IAO:0000115 Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney NOT_TRANSLATED -en nl HP:0001197 rdfs:label Abnormality of prenatal development or birth Afwijking van prenatale ontwikkeling of geboorte CANDIDATE -en nl HP:0001197 IAO:0000115 An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities NOT_TRANSLATED -en nl HP:0033965 rdfs:label Interlobular vein intimal mucoid edema Interlobular vein intimal mucoid edema NOT_TRANSLATED -en nl HP:0033965 IAO:0000115 Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining NOT_TRANSLATED -en nl HP:0033966 rdfs:label Interlobular vein intima/media amyloidosis Interlobular vein intima/media amyloidosis NOT_TRANSLATED -en nl HP:0033966 IAO:0000115 Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED -en nl HP:0001199 rdfs:label Triphalangeal thumb Triphalangeale duim CANDIDATE -en nl HP:0001199 IAO:0000115 A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb NOT_TRANSLATED -en nl HP:0033967 rdfs:label Interlobular vein intima/media venulitis Interlobular vein intima/media venulitis NOT_TRANSLATED -en nl HP:0033967 IAO:0000115 Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural NOT_TRANSLATED -en nl HP:0033968 rdfs:label Interlobular vein intima/media granulomatous venulitis Interlobular vein intima/media granulomatous venulitis NOT_TRANSLATED -en nl HP:0033968 IAO:0000115 A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins NOT_TRANSLATED -en nl HP:0033969 rdfs:label Interlobular vein intima/media necrosis Interlobular vein intima/media necrosis NOT_TRANSLATED -en nl HP:0033969 IAO:0000115 Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney NOT_TRANSLATED -en nl HP:0033970 rdfs:label Interlobular vein intima/media liquefactive necrosis Interlobular vein intima/media liquefactive necrosis NOT_TRANSLATED -en nl HP:0033970 IAO:0000115 A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED -en nl HP:0033971 rdfs:label Interlobular vein intima/media coagulative necrosis Interlobular vein intima/media coagulative necrosis NOT_TRANSLATED -en nl HP:0033971 IAO:0000115 A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED -en nl HP:0001204 rdfs:label Distal symphalangism of hands Distaal symfalangisme van handen CANDIDATE -en nl HP:0001204 IAO:0000115 The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases NOT_TRANSLATED -en nl HP:0033972 rdfs:label Interlobular vein medial atrophy Interlobular vein medial atrophy NOT_TRANSLATED -en nl HP:0033972 IAO:0000115 Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney NOT_TRANSLATED -en nl HP:0033973 rdfs:label Interlobular vein medial hypertrophy Interlobular vein medial hypertrophy NOT_TRANSLATED -en nl HP:0033973 IAO:0000115 Increased thickness of middle layer of the interlobular veins of the kidney Increased thickness of middle layer of the interlobular veins of the kidney NOT_TRANSLATED -en nl HP:0033974 rdfs:label Interlobular vein intima/media multilamellation Interlobular vein intima/media multilamellation NOT_TRANSLATED -en nl HP:0033974 IAO:0000115 Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers NOT_TRANSLATED -en nl HP:0033975 rdfs:label Absent second fingernail Absent second fingernail NOT_TRANSLATED -en nl HP:0033975 IAO:0000115 Absence of the fingernail of the index (second) finger Absence of the fingernail of the index (second) finger NOT_TRANSLATED -en nl HP:0033976 rdfs:label Volar fingernail Volar fingernail NOT_TRANSLATED -en nl HP:0033976 IAO:0000115 The presence of an extra nail on the palmar (volar, ventral) surface of the finger The presence of an extra nail on the palmar (volar, ventral) surface of the finger NOT_TRANSLATED -en nl HP:0033977 rdfs:label Talar aplasia Talar aplasia NOT_TRANSLATED -en nl HP:0033977 IAO:0000115 Absent talus owing to a congenital defect Absent talus owing to a congenital defect NOT_TRANSLATED -en nl HP:0033978 rdfs:label Reduced beta-hexosaminidase activity Reduced beta-hexosaminidase activity NOT_TRANSLATED -en nl HP:0033978 IAO:0000115 Diminished activity of the enzyme beta-hexosaminidase in the blood circulation Diminished activity of the enzyme beta-hexosaminidase in the blood circulation NOT_TRANSLATED -en nl HP:0001211 rdfs:label Abnormal fingertip morphology Afwijking van de vingertoppen CANDIDATE -en nl HP:0001211 IAO:0000115 An abnormal structure of the tip (end) of a finger An abnormal structure of the tip (end) of a finger NOT_TRANSLATED -en nl HP:0033979 rdfs:label Excessive dynamic airway collapse Excessive dynamic airway collapse NOT_TRANSLATED -en nl HP:0033979 IAO:0000115 Excessive anterior displacement of the tracheal and/or bronchial membranous wall Excessive anterior displacement of the tracheal and/or bronchial membranous wall NOT_TRANSLATED -en nl HP:0001212 rdfs:label Prominent fingertip pads Prominente vingertoppen CANDIDATE -en nl HP:0001212 IAO:0000115 "A soft tissue prominence of the ventral aspects of the fingertips. The term ""persistent fetal fingertip pads"" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist" "A soft tissue prominence of the ventral aspects of the fingertips. The term ""persistent fetal fingertip pads"" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist" NOT_TRANSLATED -en nl HP:0033980 rdfs:label Paroxysmal tonic upgaze Paroxysmal tonic upgaze NOT_TRANSLATED -en nl HP:0033980 IAO:0000115 Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness NOT_TRANSLATED -en nl HP:0033981 rdfs:label Vertebral artery tortuosity Vertebral artery tortuosity NOT_TRANSLATED -en nl HP:0033981 IAO:0000115 Abnormal tortuous (i.e., twisted) form of the vertebral arteries Abnormal tortuous (i.e., twisted) form of the vertebral arteries NOT_TRANSLATED -en nl HP:0033982 rdfs:label Celiac artery dissection Celiac artery dissection NOT_TRANSLATED -en nl HP:0033982 IAO:0000115 A separation (dissection) of the layers of the celiac artery wall A separation (dissection) of the layers of the celiac artery wall NOT_TRANSLATED -en nl HP:0001215 rdfs:label Camptodactyly of 2nd-5th fingers Camptodactylie van 2e-5e vingers CANDIDATE -en nl HP:0001215 IAO:0000115 The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension NOT_TRANSLATED -en nl HP:0033983 rdfs:label Decreased circulating apolipoprotein C-II concentration Decreased circulating apolipoprotein C-II concentration NOT_TRANSLATED -en nl HP:0033983 IAO:0000115 Reduced concentration of apolipoprotein C-II in the blood circulation Reduced concentration of apolipoprotein C-II in the blood circulation NOT_TRANSLATED -en nl HP:0001216 rdfs:label Delayed ossification of carpal bones Vertraagde ossificatie van carpale botten CANDIDATE -en nl HP:0001216 IAO:0000115 Ossification of carpal bones occurs later than age-adjusted norms Ossification of carpal bones occurs later than age-adjusted norms NOT_TRANSLATED -en nl HP:0033984 rdfs:label Increased urinary 8-oxo-7,8-dihydroguanosine level Increased urinary 8-oxo-7,8-dihydroguanosine level NOT_TRANSLATED -en nl HP:0033984 IAO:0000115 An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine NOT_TRANSLATED -en nl HP:0001217 rdfs:label Clubbing Hippocratisme CANDIDATE -en nl HP:0001217 IAO:0000115 Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails NOT_TRANSLATED -en nl HP:0033985 rdfs:label Elongated femoral neck Elongated femoral neck NOT_TRANSLATED -en nl HP:0033985 IAO:0000115 Increased length of the neck of the femur Increased length of the neck of the femur NOT_TRANSLATED -en nl HP:0001218 rdfs:label Autoamputation Auto-amputatie CANDIDATE -en nl HP:0001218 IAO:0000115 Spontaneous detachment (amputation) of an appendage from the body Spontaneous detachment (amputation) of an appendage from the body NOT_TRANSLATED -en nl HP:0033986 rdfs:label Tortuous lymphatic vessels Tortuous lymphatic vessels NOT_TRANSLATED -en nl HP:0033986 IAO:0000115 The presence of an increased number of twists and turns of lymphatic vessels The presence of an increased number of twists and turns of lymphatic vessels NOT_TRANSLATED -en nl HP:0033987 rdfs:label Phosphaturic mesenchymal tumor Phosphaturic mesenchymal tumor NOT_TRANSLATED -en nl HP:0033987 IAO:0000115 A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites NOT_TRANSLATED -en nl HP:0001220 rdfs:label Interphalangeal joint contracture of finger Interfalangeale gewrichtscontractuur van vinger CANDIDATE -en nl HP:0001220 IAO:0000115 Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0033988 rdfs:label Amygdala microinfarct Amygdala microinfarct NOT_TRANSLATED -en nl HP:0033988 IAO:0000115 An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically NOT_TRANSLATED -en nl HP:0033989 rdfs:label Hippocampal microinfarct Hippocampal microinfarct NOT_TRANSLATED -en nl HP:0033989 IAO:0000115 An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically NOT_TRANSLATED -en nl HP:0001222 rdfs:label Spatulate thumbs Spatelvormige duimen CANDIDATE -en nl HP:0001222 IAO:0000115 Spoon-shaped, broad thumbs Spoon-shaped, broad thumbs NOT_TRANSLATED -en nl HP:0033990 rdfs:label Cartilaginous tracheobronchomalacia Cartilaginous tracheobronchomalacia NOT_TRANSLATED -en nl HP:0033990 IAO:0000115 Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness NOT_TRANSLATED -en nl HP:0001223 rdfs:label Pointed proximal second through fifth metacarpals Puntige proximale tweede tot vijfde middelhandsbeentjes CANDIDATE -en nl HP:0001223 IAO:0000115 All of the metacarpal bones of the hand have a pointed proximal appearance All of the metacarpal bones of the hand have a pointed proximal appearance NOT_TRANSLATED -en nl HP:0033991 rdfs:label Vasa previa Vasa previa NOT_TRANSLATED -en nl HP:0033991 IAO:0000115 Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally NOT_TRANSLATED -en nl HP:0033992 rdfs:label Chronotropic incompetence Chronotropic incompetence NOT_TRANSLATED -en nl HP:0033992 IAO:0000115 Inability of the heart to increase its rate commensurate with increased activity or demand Inability of the heart to increase its rate commensurate with increased activity or demand NOT_TRANSLATED -en nl HP:0001225 rdfs:label Wrist swelling Pols zwelling CANDIDATE -en nl HP:0033993 rdfs:label Viral encephalitis Viral encephalitis NOT_TRANSLATED -en nl HP:0033993 IAO:0000115 An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction NOT_TRANSLATED -en nl HP:0033994 rdfs:label Dependency on parenteral nutrition Dependency on parenteral nutrition NOT_TRANSLATED -en nl HP:0033994 IAO:0000115 Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition NOT_TRANSLATED -en nl HP:0001227 rdfs:label Abnormality of the thenar eminence Afwijking van de duimmuis CANDIDATE -en nl HP:0001227 IAO:0000115 An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb NOT_TRANSLATED -en nl HP:0033995 rdfs:label Microvillus inclusions Microvillus inclusions NOT_TRANSLATED -en nl HP:0033995 IAO:0000115 The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes NOT_TRANSLATED -en nl HP:0033996 rdfs:label Microvillar PAS-positive secretory granules Microvillar PAS-positive secretory granules NOT_TRANSLATED -en nl HP:0033996 IAO:0000115 The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures NOT_TRANSLATED -en nl HP:0033997 rdfs:label Perinuclear cardiomyocyte vacuolization Perinuclear cardiomyocyte vacuolization NOT_TRANSLATED -en nl HP:0033997 IAO:0000115 Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart NOT_TRANSLATED -en nl HP:0001230 rdfs:label Broad metacarpals Brede middelhandsbeentjes CANDIDATE -en nl HP:0001230 IAO:0000115 Abnormally broad metacarpal bones Abnormally broad metacarpal bones NOT_TRANSLATED -en nl HP:0033998 rdfs:label Single-lobed right lung Single-lobed right lung NOT_TRANSLATED -en nl HP:0033998 IAO:0000115 A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes NOT_TRANSLATED -en nl HP:0001231 rdfs:label Abnormal fingernail morphology Afwijking van de vingernagels CANDIDATE -en nl HP:0001231 IAO:0000115 An abnormality of the fingernails An abnormality of the fingernails NOT_TRANSLATED -en nl HP:0033999 rdfs:label Bronchial hemorrhage Bronchial hemorrhage NOT_TRANSLATED -en nl HP:0033999 IAO:0000115 Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy NOT_TRANSLATED -en nl HP:0001232 rdfs:label Nail bed telangiectasia Nagelbed teleangiëctasie CANDIDATE -en nl HP:0001232 IAO:0000115 Telangiectases in the area of the nails Telangiectases in the area of the nails NOT_TRANSLATED -en nl HP:0034000 rdfs:label Tracheal hemorrhage Tracheal hemorrhage NOT_TRANSLATED -en nl HP:0034000 IAO:0000115 Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy NOT_TRANSLATED -en nl HP:0001233 rdfs:label 2-3 finger syndactyly 2-3 vingersyndactylie CANDIDATE -en nl HP:0001233 IAO:0000115 Syndactyly with fusion of fingers two and three Syndactyly with fusion of fingers two and three NOT_TRANSLATED -en nl HP:0034001 rdfs:label Anti-Complement factor H antibody positivity Anti-Complement factor H antibody positivity NOT_TRANSLATED -en nl HP:0034001 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H NOT_TRANSLATED -en nl HP:0001234 rdfs:label Hitchhiker thumb Lifter duim CANDIDATE -en nl HP:0001234 IAO:0000115 With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand NOT_TRANSLATED -en nl HP:0034002 rdfs:label Anti-phospholipase A2 receptor antibody positivity Anti-phospholipase A2 receptor antibody positivity NOT_TRANSLATED -en nl HP:0034002 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor NOT_TRANSLATED -en nl HP:0034003 rdfs:label Broad medial eyebrow Broad medial eyebrow NOT_TRANSLATED -en nl HP:0034003 IAO:0000115 Regional increase in the width (height) of the middle portion of the eyebrow Regional increase in the width (height) of the middle portion of the eyebrow NOT_TRANSLATED -en nl HP:0034004 rdfs:label Parosmia Parosmia NOT_TRANSLATED -en nl HP:0034004 IAO:0000115 Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli NOT_TRANSLATED -en nl HP:0034005 rdfs:label Decreased dendritic spine number Decreased dendritic spine number NOT_TRANSLATED -en nl HP:0034005 IAO:0000115 An abnormal reduction in the amount of spines on a given dendrite An abnormal reduction in the amount of spines on a given dendrite NOT_TRANSLATED -en nl HP:0001238 rdfs:label Slender finger Slanke vinger CANDIDATE -en nl HP:0001238 IAO:0000115 Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual NOT_TRANSLATED -en nl HP:0034006 rdfs:label Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio NOT_TRANSLATED -en nl HP:0034006 IAO:0000115 A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation NOT_TRANSLATED -en nl HP:0001239 rdfs:label Wrist flexion contracture Pols flexiecontractuur CANDIDATE -en nl HP:0001239 IAO:0000115 A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist NOT_TRANSLATED -en nl HP:0034007 rdfs:label Posterior atrophy of corpus callosum Posterior atrophy of corpus callosum NOT_TRANSLATED -en nl HP:0034007 IAO:0000115 The presence of atrophy (wasting) of the posterior portion of the corpus callosum The presence of atrophy (wasting) of the posterior portion of the corpus callosum NOT_TRANSLATED -en nl HP:0034008 rdfs:label Opto-chiasmatic atrophy Opto-chiasmatic atrophy NOT_TRANSLATED -en nl HP:0034008 IAO:0000115 Wasting (atrophy) of the optic chiasm Wasting (atrophy) of the optic chiasm NOT_TRANSLATED -en nl HP:0001241 rdfs:label Capitate-hamate fusion Capitatum-hamatum fusie CANDIDATE -en nl HP:0034009 rdfs:label Pelvic lipomatosis Pelvic lipomatosis NOT_TRANSLATED -en nl HP:0034009 IAO:0000115 Overgrowth of fat in the perivesical and perirectal area Overgrowth of fat in the perivesical and perirectal area NOT_TRANSLATED -en nl HP:0034010 rdfs:label Increased megakaryocyte colony forming unit count Increased megakaryocyte colony forming unit count NOT_TRANSLATED -en nl HP:0034010 IAO:0000115 Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow NOT_TRANSLATED -en nl HP:0034011 rdfs:label Reduced progressive sperm motility Reduced progressive sperm motility NOT_TRANSLATED -en nl HP:0034011 IAO:0000115 A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion NOT_TRANSLATED -en nl HP:0034012 rdfs:label Palmoplantar hypohidrosis Palmoplantar hypohidrosis NOT_TRANSLATED -en nl HP:0034012 IAO:0000115 Decreased sweating on the palms and soles Decreased sweating on the palms and soles NOT_TRANSLATED -en nl HP:0001245 rdfs:label Small thenar eminence Kleine duimmuis CANDIDATE -en nl HP:0001245 IAO:0000115 Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb NOT_TRANSLATED -en nl HP:0034013 rdfs:label Curvilinear pericallosal lipoma Curvilinear pericallosal lipoma NOT_TRANSLATED -en nl HP:0034013 IAO:0000115 A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum NOT_TRANSLATED -en nl HP:0034014 rdfs:label Tubulonodular pericallosal lipoma Tubulonodular pericallosal lipoma NOT_TRANSLATED -en nl HP:0034014 IAO:0000115 A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles NOT_TRANSLATED -en nl HP:0034015 rdfs:label Cavitating pulmonary nodule Cavitating pulmonary nodule NOT_TRANSLATED -en nl HP:0034015 IAO:0000115 Thick-walled abnormal gas-filled interstitial nodule within a lung Thick-walled abnormal gas-filled interstitial nodule within a lung NOT_TRANSLATED -en nl HP:0001248 rdfs:label Short tubular bones of the hand Korte tubulaire botten van de hand CANDIDATE -en nl HP:0001248 IAO:0000115 Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals NOT_TRANSLATED -en nl HP:0034016 rdfs:label Anti-HLA antibody positivity Anti-HLA antibody positivity NOT_TRANSLATED -en nl HP:0034016 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA) NOT_TRANSLATED -en nl HP:0001249 rdfs:label Intellectual disability Verstandelijke beperking CANDIDATE -en nl HP:0001249 IAO:0000115 Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 NOT_TRANSLATED -en nl HP:0034017 rdfs:label Anti-class I HLA antibody positivity Anti-class I HLA antibody positivity NOT_TRANSLATED -en nl HP:0034017 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C) NOT_TRANSLATED -en nl HP:0001250 rdfs:label Seizure Plotselinge aanvallen CANDIDATE -en nl HP:0001250 IAO:0000115 A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain NOT_TRANSLATED -en nl HP:0034018 rdfs:label Anti-class II HLA antibody positivity Anti-class II HLA antibody positivity NOT_TRANSLATED -en nl HP:0034018 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR) NOT_TRANSLATED -en nl HP:0001251 rdfs:label Ataxia Ataxie CANDIDATE -en nl HP:0001251 IAO:0000115 Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly) Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly) NOT_TRANSLATED -en nl HP:0034019 rdfs:label Anti-HLA-A antibody positivity Anti-HLA-A antibody positivity NOT_TRANSLATED -en nl HP:0034019 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A) NOT_TRANSLATED -en nl HP:0001252 rdfs:label Hypotonia Spierhypotonie CANDIDATE -en nl HP:0001252 IAO:0000115 Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist NOT_TRANSLATED -en nl HP:0034020 rdfs:label Anti-HLA-A IgG1 antibody positivity Anti-HLA-A IgG1 antibody positivity NOT_TRANSLATED -en nl HP:0034020 IAO:0000115 The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) NOT_TRANSLATED -en nl HP:0034021 rdfs:label Anti-HLA-A IgG3 antibody positivity Anti-HLA-A IgG3 antibody positivity NOT_TRANSLATED -en nl HP:0034021 IAO:0000115 The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) NOT_TRANSLATED -en nl HP:0001254 rdfs:label Lethargy Lethargie CANDIDATE -en nl HP:0001254 IAO:0000115 A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating NOT_TRANSLATED -en nl HP:0034022 rdfs:label Anti-HLA-B antibody positivity Anti-HLA-B antibody positivity NOT_TRANSLATED -en nl HP:0034022 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B) NOT_TRANSLATED -en nl HP:0034023 rdfs:label Anti-HLA-B IgG1 antibody positivity Anti-HLA-B IgG1 antibody positivity NOT_TRANSLATED -en nl HP:0034023 IAO:0000115 The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) NOT_TRANSLATED -en nl HP:0001256 rdfs:label Intellectual disability, mild Verstandelijke beperking, mild CANDIDATE -en nl HP:0001256 IAO:0000115 Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69 Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69 NOT_TRANSLATED -en nl HP:0034024 rdfs:label Anti-HLA-B IgG3 antibody positivity Anti-HLA-B IgG3 antibody positivity NOT_TRANSLATED -en nl HP:0034024 IAO:0000115 The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) NOT_TRANSLATED -en nl HP:0001257 rdfs:label Spasticity Spasticiteit CANDIDATE -en nl HP:0001257 IAO:0000115 A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes NOT_TRANSLATED -en nl HP:0034025 rdfs:label Abnormal circulating GABA concentration Abnormal circulating GABA concentration NOT_TRANSLATED -en nl HP:0034025 IAO:0000115 Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation NOT_TRANSLATED -en nl HP:0001258 rdfs:label Spastic paraplegia Spastische dwarslaesie CANDIDATE -en nl HP:0001258 IAO:0000115 Spasticity and weakness of the leg and hip muscles Spasticity and weakness of the leg and hip muscles NOT_TRANSLATED -en nl HP:0034026 rdfs:label Elevated circulating sacchoropine concentration Elevated circulating sacchoropine concentration NOT_TRANSLATED -en nl HP:0034026 IAO:0000115 An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine NOT_TRANSLATED -en nl HP:0001259 rdfs:label Coma Coma CANDIDATE -en nl HP:0001259 IAO:0000115 Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli NOT_TRANSLATED -en nl HP:0034027 rdfs:label Abnormal urinary non-proteinogenic amino acid level Abnormal urinary non-proteinogenic amino acid level NOT_TRANSLATED -en nl HP:0034027 IAO:0000115 Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids NOT_TRANSLATED -en nl HP:0001260 rdfs:label Dysarthria Dysartrie CANDIDATE -en nl HP:0001260 IAO:0000115 Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed NOT_TRANSLATED -en nl HP:0034028 rdfs:label Saccharopinuria Saccharopinuria NOT_TRANSLATED -en nl HP:0034028 IAO:0000115 Presence of saccharopine in the urine Presence of saccharopine in the urine NOT_TRANSLATED -en nl HP:0034029 rdfs:label Hepatic foam cells Hepatic foam cells NOT_TRANSLATED -en nl HP:0034029 IAO:0000115 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver NOT_TRANSLATED -en nl HP:0001262 rdfs:label Excessive daytime somnolence Buitensporige slaperigheid overdag CANDIDATE -en nl HP:0001262 IAO:0000115 A state of abnormally strong desire for sleep during the daytime A state of abnormally strong desire for sleep during the daytime NOT_TRANSLATED -en nl HP:0034030 rdfs:label Lip cyanosis Lip cyanosis NOT_TRANSLATED -en nl HP:0034030 IAO:0000115 Bluish discoloration of the lips Bluish discoloration of the lips NOT_TRANSLATED -en nl HP:0001263 rdfs:label Global developmental delay Globale vertraging in de ontwikkeling CANDIDATE -en nl HP:0001263 IAO:0000115 A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age NOT_TRANSLATED -en nl HP:0034031 rdfs:label Facial cyanosis Facial cyanosis NOT_TRANSLATED -en nl HP:0034031 IAO:0000115 Bluish discoloration of one or more regions of the face Bluish discoloration of one or more regions of the face NOT_TRANSLATED -en nl HP:0001264 rdfs:label Spastic diplegia Spastische diplegie CANDIDATE -en nl HP:0001264 IAO:0000115 Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis NOT_TRANSLATED -en nl HP:0034032 rdfs:label Central cyanosis Central cyanosis NOT_TRANSLATED -en nl HP:0034032 IAO:0000115 Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin NOT_TRANSLATED -en nl HP:0001265 rdfs:label Hyporeflexia Hyporeflexie CANDIDATE -en nl HP:0001265 IAO:0000115 Reduction of neurologic reflexes such as the knee-jerk reaction Reduction of neurologic reflexes such as the knee-jerk reaction NOT_TRANSLATED -en nl HP:0034033 rdfs:label Peripheral cyanosis Peripheral cyanosis NOT_TRANSLATED -en nl HP:0034033 IAO:0000115 Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved NOT_TRANSLATED -en nl HP:0001266 rdfs:label Choreoathetosis Choreo-athetose CANDIDATE -en nl HP:0001266 IAO:0000115 Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements) Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements) NOT_TRANSLATED -en nl HP:0034034 rdfs:label Differential cyanosis Differential cyanosis NOT_TRANSLATED -en nl HP:0034034 IAO:0000115 Differential degree of bluish discoloration between the upper and lower extremities Differential degree of bluish discoloration between the upper and lower extremities NOT_TRANSLATED -en nl HP:0034035 rdfs:label Pharyngeal exudate Pharyngeal exudate NOT_TRANSLATED -en nl HP:0034035 IAO:0000115 Fluid exuded from the posterior wall of the pharynx Fluid exuded from the posterior wall of the pharynx NOT_TRANSLATED -en nl HP:0001268 rdfs:label Mental deterioration Mentale achteruitgang CANDIDATE -en nl HP:0001268 IAO:0000115 Loss of previously present mental abilities, generally in adults Loss of previously present mental abilities, generally in adults NOT_TRANSLATED -en nl HP:0034036 rdfs:label Pseudo-chilblains on toes Pseudo-chilblains on toes NOT_TRANSLATED -en nl HP:0034036 IAO:0000115 Inflammatory chilblain-like nodules on the feet and/or toes Inflammatory chilblain-like nodules on the feet and/or toes NOT_TRANSLATED -en nl HP:0001269 rdfs:label Hemiparesis Hemiparese CANDIDATE -en nl HP:0001269 IAO:0000115 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength NOT_TRANSLATED -en nl HP:0034037 rdfs:label Pseudo-chilblains on fingers Pseudo-chilblains on fingers NOT_TRANSLATED -en nl HP:0034037 IAO:0000115 Inflammatory chilblain-like nodules on the hands and/or fingers Inflammatory chilblain-like nodules on the hands and/or fingers NOT_TRANSLATED -en nl HP:0001270 rdfs:label Motor delay Motorische achterstand CANDIDATE -en nl HP:0001270 IAO:0000115 A type of Developmental delay characterized by a delay in acquiring motor skills A type of Developmental delay characterized by a delay in acquiring motor skills NOT_TRANSLATED -en nl HP:0034038 rdfs:label Silent hypoxemia Silent hypoxemia NOT_TRANSLATED -en nl HP:0034038 IAO:0000115 Abnormally low blood oxygen level without the presence of dyspnea Abnormally low blood oxygen level without the presence of dyspnea NOT_TRANSLATED -en nl HP:0001271 rdfs:label Polyneuropathy Polyneuropathie CANDIDATE -en nl HP:0001271 IAO:0000115 A generalized disorder of peripheral nerves A generalized disorder of peripheral nerves NOT_TRANSLATED -en nl HP:0034039 rdfs:label Ventricular couplet Ventricular couplet NOT_TRANSLATED -en nl HP:0034039 IAO:0000115 Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats NOT_TRANSLATED -en nl HP:0001272 rdfs:label Cerebellar atrophy Cerebellaire atrofie CANDIDATE -en nl HP:0001272 IAO:0000115 Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event NOT_TRANSLATED -en nl HP:0034040 rdfs:label Bidirectional ventricular tachycardia Bidirectional ventricular tachycardia NOT_TRANSLATED -en nl HP:0034040 IAO:0000115 Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm NOT_TRANSLATED -en nl HP:0001273 rdfs:label Abnormal corpus callosum morphology Afwijking van het corpus callosum CANDIDATE -en nl HP:0001273 IAO:0000115 Abnormality of the corpus callosum Abnormality of the corpus callosum NOT_TRANSLATED -en nl HP:0034041 rdfs:label Ventricular ectopy Ventricular ectopy NOT_TRANSLATED -en nl HP:0034041 IAO:0000115 Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy NOT_TRANSLATED -en nl HP:0001274 rdfs:label Agenesis of corpus callosum Agenesie van corpus callosum CANDIDATE -en nl HP:0001274 IAO:0000115 Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline NOT_TRANSLATED -en nl HP:0034042 rdfs:label Dorsal hirsutism Dorsal hirsutism NOT_TRANSLATED -en nl HP:0034042 IAO:0000115 Abnormally increased hair growth in the lskin of the back Abnormally increased hair growth in the lskin of the back NOT_TRANSLATED -en nl HP:0034043 rdfs:label Increased fecal bile acid Increased fecal bile acid NOT_TRANSLATED -en nl HP:0034043 IAO:0000115 Elevated amount of bile acids in the feces Elevated amount of bile acids in the feces NOT_TRANSLATED -en nl HP:0001276 rdfs:label Hypertonia Hypertonie CANDIDATE -en nl HP:0001276 IAO:0000115 A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move NOT_TRANSLATED -en nl HP:0034044 rdfs:label Trident pelvis Trident pelvis NOT_TRANSLATED -en nl HP:0034044 IAO:0000115 Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident NOT_TRANSLATED -en nl HP:0034045 rdfs:label Angulated muscle fibers Angulated muscle fibers NOT_TRANSLATED -en nl HP:0034045 IAO:0000115 Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip NOT_TRANSLATED -en nl HP:0001278 rdfs:label Orthostatic hypotension Orthostatische hypotensie CANDIDATE -en nl HP:0001278 IAO:0000115 A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position NOT_TRANSLATED -en nl HP:0034046 rdfs:label Mandibular osteolysis Mandibular osteolysis NOT_TRANSLATED -en nl HP:0034046 IAO:0000115 Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible NOT_TRANSLATED -en nl HP:0001279 rdfs:label Syncope Syncope CANDIDATE -en nl HP:0001279 IAO:0000115 Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow NOT_TRANSLATED -en nl HP:0034047 rdfs:label Rib osteolysis Rib osteolysis NOT_TRANSLATED -en nl HP:0034047 IAO:0000115 Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib NOT_TRANSLATED -en nl HP:0034048 rdfs:label Decreased circulating chenodeoxycholic acid concentration Decreased circulating chenodeoxycholic acid concentration NOT_TRANSLATED -en nl HP:0034048 IAO:0000115 A reduced concentration of chenodeoxycholic acid in the blood circulation A reduced concentration of chenodeoxycholic acid in the blood circulation NOT_TRANSLATED -en nl HP:0001281 rdfs:label Tetany Tetanie CANDIDATE -en nl HP:0001281 IAO:0000115 A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency NOT_TRANSLATED -en nl HP:0034049 rdfs:label Elevated urinary prostaglandin E2 level Elevated urinary prostaglandin E2 level NOT_TRANSLATED -en nl HP:0034049 IAO:0000115 An increased amount of prostaglandin E2 in the urine An increased amount of prostaglandin E2 in the urine NOT_TRANSLATED -en nl HP:0034050 rdfs:label Elevated urinary prostaglandin E2 metabolite level Elevated urinary prostaglandin E2 metabolite level NOT_TRANSLATED -en nl HP:0034050 IAO:0000115 An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine NOT_TRANSLATED -en nl HP:0001283 rdfs:label Bulbar palsy Bulbaire parese CANDIDATE -en nl HP:0001283 IAO:0000115 Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia NOT_TRANSLATED -en nl HP:0034051 rdfs:label Hypoplastic anterior limbs of the internal capsule Hypoplastic anterior limbs of the internal capsule NOT_TRANSLATED -en nl HP:0034051 IAO:0000115 Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule NOT_TRANSLATED -en nl HP:0001284 rdfs:label Areflexia Areflexie CANDIDATE -en nl HP:0001284 IAO:0000115 Absence of neurologic reflexes such as the knee-jerk reaction Absence of neurologic reflexes such as the knee-jerk reaction NOT_TRANSLATED -en nl HP:0034052 rdfs:label Impaired toe-walking ability Impaired toe-walking ability NOT_TRANSLATED -en nl HP:0034052 IAO:0000115 Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes NOT_TRANSLATED -en nl HP:0001285 rdfs:label Spastic tetraparesis Spastische tetraparese CANDIDATE -en nl HP:0001285 IAO:0000115 Spastic weakness affecting all four limbs Spastic weakness affecting all four limbs NOT_TRANSLATED -en nl HP:0034053 rdfs:label Decreased acid ceramidase activity Decreased acid ceramidase activity NOT_TRANSLATED -en nl HP:0034054 rdfs:label Probst bundles Probst bundles NOT_TRANSLATED -en nl HP:0034054 IAO:0000115 Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles NOT_TRANSLATED -en nl HP:0001287 rdfs:label Meningitis Meningitis CANDIDATE -en nl HP:0001287 IAO:0000115 Inflammation of the meninges Inflammation of the meninges NOT_TRANSLATED -en nl HP:0034055 rdfs:label Anti-side-chain cleavage enzyme antibody positivity Anti-side-chain cleavage enzyme antibody positivity NOT_TRANSLATED -en nl HP:0034055 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583) The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583) NOT_TRANSLATED -en nl HP:0001288 rdfs:label Gait disturbance Loopstoornis CANDIDATE -en nl HP:0001288 IAO:0000115 The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease NOT_TRANSLATED -en nl HP:0034056 rdfs:label Increased fecal calprotectin level Increased fecal calprotectin level NOT_TRANSLATED -en nl HP:0034056 IAO:0000115 An increased amount of calprotectin in the feces An increased amount of calprotectin in the feces NOT_TRANSLATED -en nl HP:0001289 rdfs:label Confusion Verwarring CANDIDATE -en nl HP:0001289 IAO:0000115 Lack of clarity and coherence of thought, perception, understanding, or action Lack of clarity and coherence of thought, perception, understanding, or action NOT_TRANSLATED -en nl HP:0034057 rdfs:label Fetal anomaly Fetal anomaly NOT_TRANSLATED -en nl HP:0034057 IAO:0000115 Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate NOT_TRANSLATED -en nl HP:0001290 rdfs:label Generalized hypotonia Gegeneraliseerde hypotonie CANDIDATE -en nl HP:0001290 IAO:0000115 Generalized muscular hypotonia (abnormally low muscle tone) Generalized muscular hypotonia (abnormally low muscle tone) NOT_TRANSLATED -en nl HP:0034058 rdfs:label Abnormal fetal morphology Abnormal fetal morphology NOT_TRANSLATED -en nl HP:0034058 IAO:0000115 Any structural anomaly of the fetus Any structural anomaly of the fetus NOT_TRANSLATED -en nl HP:0001291 rdfs:label Abnormal cranial nerve morphology Afwijking van de hersenzenuwen CANDIDATE -en nl HP:0001291 IAO:0000115 Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem NOT_TRANSLATED -en nl HP:0034059 rdfs:label Abnormal fetal physiology Abnormal fetal physiology NOT_TRANSLATED -en nl HP:0034059 IAO:0000115 Any functional anomaly of the fetus Any functional anomaly of the fetus NOT_TRANSLATED -en nl HP:0034060 rdfs:label Triggered by fava bean ingestion Triggered by fava bean ingestion NOT_TRANSLATED -en nl HP:0034060 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating fava beans Applies to a sign or symptom that is provoked or brought about by eating fava beans NOT_TRANSLATED -en nl HP:0001293 rdfs:label Cranial nerve compression Hersenzenuwcompressie CANDIDATE -en nl HP:0034061 rdfs:label Anti-steroid 17alpha-hydroxylase antibody positivity Anti-steroid 17alpha-hydroxylase antibody positivity NOT_TRANSLATED -en nl HP:0034061 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase NOT_TRANSLATED -en nl HP:0034062 rdfs:label Anti-insulin antibody positivity Anti-insulin antibody positivity NOT_TRANSLATED -en nl HP:0034062 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against insulin The presence of autoantibodies (immunoglobulins) in the serum that react against insulin NOT_TRANSLATED -en nl HP:0034063 rdfs:label Anti-islet antigen-2 antibody positivity Anti-islet antigen-2 antibody positivity NOT_TRANSLATED -en nl HP:0034063 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2 The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2 NOT_TRANSLATED -en nl HP:0034064 rdfs:label Anti-salivary protein antibody positivity Anti-salivary protein antibody positivity NOT_TRANSLATED -en nl HP:0034064 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein NOT_TRANSLATED -en nl HP:0001297 rdfs:label Stroke Beroerte CANDIDATE -en nl HP:0001297 IAO:0000115 Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain NOT_TRANSLATED -en nl HP:0034065 rdfs:label Anti-Zinc transporter 8 antibody positivity Anti-Zinc transporter 8 antibody positivity NOT_TRANSLATED -en nl HP:0034065 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8 The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8 NOT_TRANSLATED -en nl HP:0001298 rdfs:label Encephalopathy Encefalopathie CANDIDATE -en nl HP:0001298 IAO:0000115 Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state NOT_TRANSLATED -en nl HP:0034066 rdfs:label Anti-carbonic anhydrase VI antibody positivity Anti-carbonic anhydrase VI antibody positivity NOT_TRANSLATED -en nl HP:0034066 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI NOT_TRANSLATED -en nl HP:0034067 rdfs:label Tonofilament clumping Tonofilament clumping NOT_TRANSLATED -en nl HP:0034067 IAO:0000115 Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes NOT_TRANSLATED -en nl HP:0001300 rdfs:label Parkinsonism Ziekte van Parkinson CANDIDATE -en nl HP:0001300 IAO:0000115 Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait NOT_TRANSLATED -en nl HP:0034068 rdfs:label Anti-plasminogen binding peptide antibody positivity Anti-plasminogen binding peptide antibody positivity NOT_TRANSLATED -en nl HP:0034068 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide NOT_TRANSLATED -en nl HP:0001301 rdfs:label Chronic sensorineural polyneuropathy Chronische perceptieve polyneuropathie CANDIDATE -en nl HP:0034069 rdfs:label Anti-parotid secretory protein antibody positivity Anti-parotid secretory protein antibody positivity NOT_TRANSLATED -en nl HP:0034069 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein NOT_TRANSLATED -en nl HP:0001302 rdfs:label Pachygyria Pachygyrie CANDIDATE -en nl HP:0001302 IAO:0000115 Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly NOT_TRANSLATED -en nl HP:0034070 rdfs:label Anti-enterocyte antibody positivity Anti-enterocyte antibody positivity NOT_TRANSLATED -en nl HP:0034070 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes NOT_TRANSLATED -en nl HP:0034071 rdfs:label Anti-21-hydroxylase antibody positivity Anti-21-hydroxylase antibody positivity NOT_TRANSLATED -en nl HP:0034071 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase NOT_TRANSLATED -en nl HP:0001304 rdfs:label Torsion dystonia Torsie dystonie CANDIDATE -en nl HP:0001304 IAO:0000115 Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body NOT_TRANSLATED -en nl HP:0034072 rdfs:label Abnormal fetal long-bone echogenicity Abnormal fetal long-bone echogenicity NOT_TRANSLATED -en nl HP:0034072 IAO:0000115 Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging NOT_TRANSLATED -en nl HP:0001305 rdfs:label Dandy-Walker malformation Dandy-Walker malformatie CANDIDATE -en nl HP:0001305 IAO:0000115 A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal NOT_TRANSLATED -en nl HP:0034073 rdfs:label Reduced fetal long bone echogenicity Reduced fetal long bone echogenicity NOT_TRANSLATED -en nl HP:0034073 IAO:0000115 An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis NOT_TRANSLATED -en nl HP:0034074 rdfs:label Increased fetal long bone echogenicity Increased fetal long bone echogenicity NOT_TRANSLATED -en nl HP:0034074 IAO:0000115 An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization NOT_TRANSLATED -en nl HP:0034075 rdfs:label Decreased circulating apolipoprotein B concentration Decreased circulating apolipoprotein B concentration NOT_TRANSLATED -en nl HP:0034075 IAO:0000115 Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 NOT_TRANSLATED -en nl HP:0001308 rdfs:label Tongue fasciculations Tongfasciculaties CANDIDATE -en nl HP:0001308 IAO:0000115 Fasciculations or fibrillation affecting the tongue muscle Fasciculations or fibrillation affecting the tongue muscle NOT_TRANSLATED -en nl HP:0034076 rdfs:label Anti-ribosome Po antibody positivity Anti-ribosome Po antibody positivity NOT_TRANSLATED -en nl HP:0034076 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po NOT_TRANSLATED -en nl HP:0034077 rdfs:label Anti-complement component C1q antibody positivity Anti-complement component C1q antibody positivity NOT_TRANSLATED -en nl HP:0034077 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q NOT_TRANSLATED -en nl HP:0001310 rdfs:label Dysmetria Dysmetrie CANDIDATE -en nl HP:0001310 IAO:0000115 A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements NOT_TRANSLATED -en nl HP:0034078 rdfs:label Anti-centromere protein A antibody positivity Anti-centromere protein A antibody positivity NOT_TRANSLATED -en nl HP:0034078 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A NOT_TRANSLATED -en nl HP:0001311 rdfs:label Abnormal nervous system electrophysiology Abnormale zenuwstelsel electrofysiologie CANDIDATE -en nl HP:0001311 IAO:0000115 An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations NOT_TRANSLATED -en nl HP:0034079 rdfs:label Anti-centromere protein B antibody positivity Anti-centromere protein B antibody positivity NOT_TRANSLATED -en nl HP:0034079 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B NOT_TRANSLATED -en nl HP:0001312 rdfs:label Giant somatosensory evoked potentials Reuze somatosensorische opgewekte potentialen CANDIDATE -en nl HP:0001312 IAO:0000115 An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials NOT_TRANSLATED -en nl HP:0034080 rdfs:label Anti-U3 RNP antibody positivity Anti-U3 RNP antibody positivity NOT_TRANSLATED -en nl HP:0034080 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP NOT_TRANSLATED -en nl HP:0034081 rdfs:label Anti-Th/To antibody positivity Anti-Th/To antibody positivity NOT_TRANSLATED -en nl HP:0034081 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To NOT_TRANSLATED -en nl HP:0034082 rdfs:label Anti-bicaudal D2 antibody positivity Anti-bicaudal D2 antibody positivity NOT_TRANSLATED -en nl HP:0034082 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2 NOT_TRANSLATED -en nl HP:0001315 rdfs:label Reduced tendon reflexes Verminderde pees-reflexen CANDIDATE -en nl HP:0001315 IAO:0000115 Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease NOT_TRANSLATED -en nl HP:0034083 rdfs:label Anti-nucleolus-organizing region antibody positivity Anti-nucleolus-organizing region antibody positivity NOT_TRANSLATED -en nl HP:0034083 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90 NOT_TRANSLATED -en nl HP:0034084 rdfs:label Anti-phosphatidyl ethanolamine antibody positivity Anti-phosphatidyl ethanolamine antibody positivity NOT_TRANSLATED -en nl HP:0034084 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine NOT_TRANSLATED -en nl HP:0001317 rdfs:label Abnormal cerebellum morphology Afwijking van het cerebellum CANDIDATE -en nl HP:0001317 IAO:0000115 Any structural abnormality of the cerebellum Any structural abnormality of the cerebellum NOT_TRANSLATED -en nl HP:0034085 rdfs:label Anti-PM-Scl100 antibody positivity Anti-PM-Scl100 antibody positivity NOT_TRANSLATED -en nl HP:0034085 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100 NOT_TRANSLATED -en nl HP:0034086 rdfs:label Anti-PM-Scl75 antibody positivity Anti-PM-Scl75 antibody positivity NOT_TRANSLATED -en nl HP:0034086 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75 NOT_TRANSLATED -en nl HP:0001319 rdfs:label Neonatal hypotonia Neonatale hypotonie CANDIDATE -en nl HP:0001319 IAO:0000115 Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period NOT_TRANSLATED -en nl HP:0034087 rdfs:label Anti-U11/U12 RNP antibody positivity Anti-U11/U12 RNP antibody positivity NOT_TRANSLATED -en nl HP:0034087 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP NOT_TRANSLATED -en nl HP:0001320 rdfs:label Cerebellar vermis hypoplasia Hypoplasie van de vermis CANDIDATE -en nl HP:0001320 IAO:0000115 Underdevelopment of the vermis of cerebellum Underdevelopment of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0034088 rdfs:label Anti-Ku antibody positivity Anti-Ku antibody positivity NOT_TRANSLATED -en nl HP:0034088 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku NOT_TRANSLATED -en nl HP:0001321 rdfs:label Cerebellar hypoplasia Cerebellaire hypoplasie CANDIDATE -en nl HP:0001321 IAO:0000115 Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time NOT_TRANSLATED -en nl HP:0034089 rdfs:label Anti-B23 antibody positivity Anti-B23 antibody positivity NOT_TRANSLATED -en nl HP:0034089 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23 NOT_TRANSLATED -en nl HP:0034090 rdfs:label Anti-RuvBL1/2 antibody positivity Anti-RuvBL1/2 antibody positivity NOT_TRANSLATED -en nl HP:0034090 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2 NOT_TRANSLATED -en nl HP:0034091 rdfs:label Anti-platelet derived growth factor receptor Anti-platelet derived growth factor receptor NOT_TRANSLATED -en nl HP:0034091 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor NOT_TRANSLATED -en nl HP:0001324 rdfs:label Muscle weakness Spierzwakte CANDIDATE -en nl HP:0001324 IAO:0000115 Reduced strength of muscles Reduced strength of muscles NOT_TRANSLATED -en nl HP:0034092 rdfs:label Anti-cyclic citrullinated peptide antibody positivity Anti-cyclic citrullinated peptide antibody positivity NOT_TRANSLATED -en nl HP:0034092 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide NOT_TRANSLATED -en nl HP:0001325 rdfs:label Hypoglycemic coma Hypoglycemische coma CANDIDATE -en nl HP:0034093 rdfs:label Anti-Ro52/TRIM21 antibody positivity Anti-Ro52/TRIM21 antibody positivity NOT_TRANSLATED -en nl HP:0034093 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21 NOT_TRANSLATED -en nl HP:0001326 rdfs:label EEG with irregular generalized spike and wave complexes EEG met onregelmatige gegeneraliseerde piek- en golfcomplexen CANDIDATE -en nl HP:0001326 IAO:0000115 EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency NOT_TRANSLATED -en nl HP:0034094 rdfs:label Anti-angiotensin receptor type-1 antibody positivity Anti-angiotensin receptor type-1 antibody positivity NOT_TRANSLATED -en nl HP:0034094 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1 NOT_TRANSLATED -en nl HP:0001327 rdfs:label Photosensitive myoclonic seizure Fotomyoclonische aanvallen CANDIDATE -en nl HP:0001327 IAO:0000115 Generalised myoclonic seizure provoked by flashing or flickering light Generalised myoclonic seizure provoked by flashing or flickering light NOT_TRANSLATED -en nl HP:0034095 rdfs:label Anti-endothelin-1 type A receptor antibody positivity Anti-endothelin-1 type A receptor antibody positivity NOT_TRANSLATED -en nl HP:0034095 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor NOT_TRANSLATED -en nl HP:0001328 rdfs:label Specific learning disability Specifieke leerstoornis CANDIDATE -en nl HP:0001328 IAO:0000115 Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence NOT_TRANSLATED -en nl HP:0034096 rdfs:label Anti-phosphatidic acid antibody positivity Anti-phosphatidic acid antibody positivity NOT_TRANSLATED -en nl HP:0034096 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid NOT_TRANSLATED -en nl HP:0034097 rdfs:label Anti-phosphatidyl choline antibody positivity Anti-phosphatidyl choline antibody positivity NOT_TRANSLATED -en nl HP:0034097 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline NOT_TRANSLATED -en nl HP:0034098 rdfs:label Anti-phosphatidyl glycerol antibody positivity Anti-phosphatidyl glycerol antibody positivity NOT_TRANSLATED -en nl HP:0034098 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol NOT_TRANSLATED -en nl HP:0001331 rdfs:label Absent septum pellucidum Afwezig septum pellucidum CANDIDATE -en nl HP:0001331 IAO:0000115 Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm NOT_TRANSLATED -en nl HP:0034099 rdfs:label Anti-phosphatidyl inositol antibody positivity Anti-phosphatidyl inositol antibody positivity NOT_TRANSLATED -en nl HP:0034099 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol NOT_TRANSLATED -en nl HP:0001332 rdfs:label Dystonia Dystonie CANDIDATE -en nl HP:0001332 IAO:0000115 An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk NOT_TRANSLATED -en nl HP:0034100 rdfs:label Anti-phosphatidyl serine antibody positivity Anti-phosphatidyl serine antibody positivity NOT_TRANSLATED -en nl HP:0034100 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine NOT_TRANSLATED -en nl HP:0034101 rdfs:label Anti-annexin-V antibody positivity Anti-annexin-V antibody positivity NOT_TRANSLATED -en nl HP:0034101 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V NOT_TRANSLATED -en nl HP:0001334 rdfs:label Communicating hydrocephalus Communicerende hydrocefalie CANDIDATE -en nl HP:0001334 IAO:0000115 A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space NOT_TRANSLATED -en nl HP:0034102 rdfs:label Anti-sphingolipid antibody positivity Anti-sphingolipid antibody positivity NOT_TRANSLATED -en nl HP:0034102 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids NOT_TRANSLATED -en nl HP:0001335 rdfs:label Bimanual synkinesia Bimanale synkinesis CANDIDATE -en nl HP:0001335 IAO:0000115 Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand NOT_TRANSLATED -en nl HP:0034103 rdfs:label Anti-GM1 antibody positivity Anti-GM1 antibody positivity NOT_TRANSLATED -en nl HP:0034103 IAO:0000115 Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury NOT_TRANSLATED -en nl HP:0001336 rdfs:label Myoclonus Myoclonus CANDIDATE -en nl HP:0001336 IAO:0000115 Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements NOT_TRANSLATED -en nl HP:0034104 rdfs:label Anti-neutrophil elastase antibody positivity Anti-neutrophil elastase antibody positivity NOT_TRANSLATED -en nl HP:0034104 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase NOT_TRANSLATED -en nl HP:0001337 rdfs:label Tremor Tremor CANDIDATE -en nl HP:0001337 IAO:0000115 An unintentional, oscillating to-and-fro muscle movement about a joint axis An unintentional, oscillating to-and-fro muscle movement about a joint axis NOT_TRANSLATED -en nl HP:0034105 rdfs:label Anti-transcription intermediary factor-1gamma antibody positivity Anti-transcription intermediary factor-1gamma antibody positivity NOT_TRANSLATED -en nl HP:0034105 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma NOT_TRANSLATED -en nl HP:0001338 rdfs:label Partial agenesis of the corpus callosum Partiële agenesie van het corpus callosum CANDIDATE -en nl HP:0001338 IAO:0000115 A partial failure of the development of the corpus callosum A partial failure of the development of the corpus callosum NOT_TRANSLATED -en nl HP:0034106 rdfs:label Anti-Su antigen/argonaute 2 antibody positivity Anti-Su antigen/argonaute 2 antibody positivity NOT_TRANSLATED -en nl HP:0034106 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2 NOT_TRANSLATED -en nl HP:0001339 rdfs:label Lissencephaly Lissencefalie CANDIDATE -en nl HP:0001339 IAO:0000115 A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly NOT_TRANSLATED -en nl HP:0034107 rdfs:label Anti-p53 antibody positivity Anti-p53 antibody positivity NOT_TRANSLATED -en nl HP:0034107 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53 NOT_TRANSLATED -en nl HP:0001340 rdfs:label Enhancement of the C-reflex Verbetering van de C-reflex CANDIDATE -en nl HP:0001340 IAO:0000115 Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response NOT_TRANSLATED -en nl HP:0034108 rdfs:label Anti-Y-box protein-1 antibody positivity Anti-Y-box protein-1 antibody positivity NOT_TRANSLATED -en nl HP:0034108 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1 NOT_TRANSLATED -en nl HP:0001341 rdfs:label Olfactory lobe agenesis Olfactorische kwab agenesie CANDIDATE -en nl HP:0034109 rdfs:label Anti-GW182 antibody positivity Anti-GW182 antibody positivity NOT_TRANSLATED -en nl HP:0034109 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182 NOT_TRANSLATED -en nl HP:0001342 rdfs:label Cerebral hemorrhage Hersenbloeding CANDIDATE -en nl HP:0001342 IAO:0000115 Hemorrhage into the parenchyma of the brain Hemorrhage into the parenchyma of the brain NOT_TRANSLATED -en nl HP:0034110 rdfs:label Anti-Gerbich phenotype 1 antibody positivity Anti-Gerbich phenotype 1 antibody positivity NOT_TRANSLATED -en nl HP:0034110 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1 NOT_TRANSLATED -en nl HP:0001343 rdfs:label Kernicterus Kernicterus CANDIDATE -en nl HP:0001343 IAO:0000115 Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction NOT_TRANSLATED -en nl HP:0034111 rdfs:label Anti-MIT3 antibody positivity Anti-MIT3 antibody positivity NOT_TRANSLATED -en nl HP:0034111 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3 NOT_TRANSLATED -en nl HP:0001344 rdfs:label Absent speech Afwezige spraak CANDIDATE -en nl HP:0001344 IAO:0000115 Complete lack of development of speech and language abilities Complete lack of development of speech and language abilities NOT_TRANSLATED -en nl HP:0034112 rdfs:label Anti-GM1 IgG antibody positivity Anti-GM1 IgG antibody positivity NOT_TRANSLATED -en nl HP:0034112 IAO:0000115 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1 NOT_TRANSLATED -en nl HP:0001345 rdfs:label Psychotic mentation Psychotische mentatie CANDIDATE -en nl HP:0034114 rdfs:label Anti-hexokinase-1 antibody positivity Anti-hexokinase-1 antibody positivity NOT_TRANSLATED -en nl HP:0034114 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1 NOT_TRANSLATED -en nl HP:0001347 rdfs:label Hyperreflexia Hyperreflexie CANDIDATE -en nl HP:0001347 IAO:0000115 Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles NOT_TRANSLATED -en nl HP:0034115 rdfs:label Anti-Kelch like protein 12 antibody positivity Anti-Kelch like protein 12 antibody positivity NOT_TRANSLATED -en nl HP:0034115 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12 NOT_TRANSLATED -en nl HP:0001348 rdfs:label Brisk reflexes Snelle reflexen CANDIDATE -en nl HP:0001348 IAO:0000115 Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal NOT_TRANSLATED -en nl HP:0034116 rdfs:label Anti-thyrotropin receptor antibody Anti-thyrotropin receptor antibody NOT_TRANSLATED -en nl HP:0034116 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody NOT_TRANSLATED -en nl HP:0001349 rdfs:label Facial diplegia Gezichtsdiplegia CANDIDATE -en nl HP:0001349 IAO:0000115 Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy) Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy) NOT_TRANSLATED -en nl HP:0034117 rdfs:label Anti-angiotensin-converting enzyme 2 antibody positivity Anti-angiotensin-converting enzyme 2 antibody positivity NOT_TRANSLATED -en nl HP:0034117 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2 NOT_TRANSLATED -en nl HP:0001350 rdfs:label Slurred speech Onduidelijke spraak CANDIDATE -en nl HP:0001350 IAO:0000115 Abnormal coordination of muscles involved in speech Abnormal coordination of muscles involved in speech NOT_TRANSLATED -en nl HP:0034118 rdfs:label Anti-GM1 IgM antibody positivity Anti-GM1 IgM antibody positivity NOT_TRANSLATED -en nl HP:0034118 IAO:0000115 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1 NOT_TRANSLATED -en nl HP:0001351 rdfs:label Jerk-locked premyoclonus spikes Jerk-locked premyoclonus spikes NOT_TRANSLATED -en nl HP:0001351 IAO:0000115 Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG NOT_TRANSLATED -en nl HP:0034119 rdfs:label Anti-GD1a IgG antibody positivity Anti-GD1a IgG antibody positivity NOT_TRANSLATED -en nl HP:0034119 IAO:0000115 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a NOT_TRANSLATED -en nl HP:0034120 rdfs:label Anti-GD1a IgM antibody positivity Anti-GD1a IgM antibody positivity NOT_TRANSLATED -en nl HP:0034120 IAO:0000115 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a NOT_TRANSLATED -en nl HP:0034121 rdfs:label Anti-GD1a antibody positivity Anti-GD1a antibody positivity NOT_TRANSLATED -en nl HP:0034121 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a NOT_TRANSLATED -en nl HP:0034122 rdfs:label Anti-GQ1b antibody positivity Anti-GQ1b antibody positivity NOT_TRANSLATED -en nl HP:0034122 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b NOT_TRANSLATED -en nl HP:0001355 rdfs:label Megalencephaly Megalencefalie CANDIDATE -en nl HP:0001355 IAO:0000115 Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia) Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia) NOT_TRANSLATED -en nl HP:0034123 rdfs:label Anti-GQ1b IgM antibody positivity Anti-GQ1b IgM antibody positivity NOT_TRANSLATED -en nl HP:0034123 IAO:0000115 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b NOT_TRANSLATED -en nl HP:0034124 rdfs:label Anti-GD1b antibody positivity Anti-GD1b antibody positivity NOT_TRANSLATED -en nl HP:0034124 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside NOT_TRANSLATED -en nl HP:0001357 rdfs:label Plagiocephaly Plagiocefalie CANDIDATE -en nl HP:0001357 IAO:0000115 Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape NOT_TRANSLATED -en nl HP:0034125 rdfs:label Anti-GD1b IgM antibody positivity Anti-GD1b IgM antibody positivity NOT_TRANSLATED -en nl HP:0034125 IAO:0000115 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside NOT_TRANSLATED -en nl HP:0034126 rdfs:label Anti-GD1b IgG antibody positivity Anti-GD1b IgG antibody positivity NOT_TRANSLATED -en nl HP:0034126 IAO:0000115 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside NOT_TRANSLATED -en nl HP:0034127 rdfs:label Anti-GQ1b IgG antibody positivity Anti-GQ1b IgG antibody positivity NOT_TRANSLATED -en nl HP:0034127 IAO:0000115 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b NOT_TRANSLATED -en nl HP:0001360 rdfs:label Holoprosencephaly Holoprosencefalie CANDIDATE -en nl HP:0001360 IAO:0000115 Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles NOT_TRANSLATED -en nl HP:0034128 rdfs:label Anti-GT1a antibody positivity Anti-GT1a antibody positivity NOT_TRANSLATED -en nl HP:0034128 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside NOT_TRANSLATED -en nl HP:0001361 rdfs:label Nystagmus-induced head nodding Nystagmus-geïnduceerde hoofdknikken CANDIDATE -en nl HP:0001361 IAO:0000115 Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision NOT_TRANSLATED -en nl HP:0034129 rdfs:label Anti-GT1a IgM antibody positivity Anti-GT1a IgM antibody positivity NOT_TRANSLATED -en nl HP:0034129 IAO:0000115 The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside NOT_TRANSLATED -en nl HP:0001362 rdfs:label Calvarial skull defect Calvariaal schedel defect CANDIDATE -en nl HP:0001362 IAO:0000115 A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year NOT_TRANSLATED -en nl HP:0034130 rdfs:label Anti-GT1a IgG antibody positivity Anti-GT1a IgG antibody positivity NOT_TRANSLATED -en nl HP:0034130 IAO:0000115 The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside NOT_TRANSLATED -en nl HP:0001363 rdfs:label Craniosynostosis Craniosynostose CANDIDATE -en nl HP:0001363 IAO:0000115 Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth NOT_TRANSLATED -en nl HP:0034131 rdfs:label Anti-GT1b antibody positivity Anti-GT1b antibody positivity NOT_TRANSLATED -en nl HP:0034131 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside NOT_TRANSLATED -en nl HP:0034132 rdfs:label Anti-GM2 antibody positivity Anti-GM2 antibody positivity NOT_TRANSLATED -en nl HP:0034132 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2 NOT_TRANSLATED -en nl HP:0034133 rdfs:label Anti-GM3 antibody positivity Anti-GM3 antibody positivity NOT_TRANSLATED -en nl HP:0034133 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3 NOT_TRANSLATED -en nl HP:0034134 rdfs:label Anti-GM4 antibody positivity Anti-GM4 antibody positivity NOT_TRANSLATED -en nl HP:0034134 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4 NOT_TRANSLATED -en nl HP:0001367 rdfs:label Abnormal joint morphology Abnormale gewrichtsmorfologie CANDIDATE -en nl HP:0001367 IAO:0000115 An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join NOT_TRANSLATED -en nl HP:0034135 rdfs:label Anti-neurofascin-155 antibody positivity Anti-neurofascin-155 antibody positivity NOT_TRANSLATED -en nl HP:0034135 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155 NOT_TRANSLATED -en nl HP:0034136 rdfs:label Anti-neurofascin 186 antibody positivity Anti-neurofascin 186 antibody positivity NOT_TRANSLATED -en nl HP:0034136 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186 NOT_TRANSLATED -en nl HP:0001369 rdfs:label Arthritis Artritis CANDIDATE -en nl HP:0001369 IAO:0000115 Inflammation of a joint Inflammation of a joint NOT_TRANSLATED -en nl HP:0034137 rdfs:label Anti-contactin-1 antibody positivity Anti-contactin-1 antibody positivity NOT_TRANSLATED -en nl HP:0034137 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1 NOT_TRANSLATED -en nl HP:0001370 rdfs:label Rheumatoid arthritis Reumatoïde artritis CANDIDATE -en nl HP:0001370 IAO:0000115 Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures NOT_TRANSLATED -en nl HP:0034138 rdfs:label Anti-contactin-associated protein 1 antibody positivity Anti-contactin-associated protein 1 antibody positivity NOT_TRANSLATED -en nl HP:0034138 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1 NOT_TRANSLATED -en nl HP:0001371 rdfs:label Flexion contracture Flexiecontractuur CANDIDATE -en nl HP:0001371 IAO:0000115 A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints NOT_TRANSLATED -en nl HP:0034139 rdfs:label Anti-SUMO-activating enzyme antibody positivity Anti-SUMO-activating enzyme antibody positivity NOT_TRANSLATED -en nl HP:0034139 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE NOT_TRANSLATED -en nl HP:0034140 rdfs:label Anti-SUMO-activating enzyme subunit 1 antibody positivity Anti-SUMO-activating enzyme subunit 1 antibody positivity NOT_TRANSLATED -en nl HP:0034140 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1 NOT_TRANSLATED -en nl HP:0001373 rdfs:label Joint dislocation Ontwrichting CANDIDATE -en nl HP:0001373 IAO:0000115 Displacement or malalignment of joints Displacement or malalignment of joints NOT_TRANSLATED -en nl HP:0034141 rdfs:label Anti-SUMO-activating enzyme subunit 2 antibody positivity Anti-SUMO-activating enzyme subunit 2 antibody positivity NOT_TRANSLATED -en nl HP:0034141 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2 NOT_TRANSLATED -en nl HP:0001374 rdfs:label Congenital hip dislocation Congenitale heupontwrichting CANDIDATE -en nl HP:0034142 rdfs:label Anti-nuclear matrix protein-2 antibody positivity Anti-nuclear matrix protein-2 antibody positivity NOT_TRANSLATED -en nl HP:0034142 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2 NOT_TRANSLATED -en nl HP:0034143 rdfs:label Anti-threonyl-tRNA synthetase antibody positivity Anti-threonyl-tRNA synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034143 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase NOT_TRANSLATED -en nl HP:0001376 rdfs:label Limitation of joint mobility Beperking van de gewrichtsmobiliteit CANDIDATE -en nl HP:0001376 IAO:0000115 A reduction in the freedom of movement of one or more joints A reduction in the freedom of movement of one or more joints NOT_TRANSLATED -en nl HP:0034144 rdfs:label Anti-hY-RNA complex antibody positivity Anti-hY-RNA complex antibody positivity NOT_TRANSLATED -en nl HP:0034144 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60 NOT_TRANSLATED -en nl HP:0001377 rdfs:label Limited elbow extension Beperkte elleboogextensie CANDIDATE -en nl HP:0001377 IAO:0000115 Limited ability to straighten the arm at the elbow joint Limited ability to straighten the arm at the elbow joint NOT_TRANSLATED -en nl HP:0034145 rdfs:label Anti-alanyl-tRNA synthetase antibody positivity Anti-alanyl-tRNA synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034145 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase NOT_TRANSLATED -en nl HP:0034146 rdfs:label Anti-glycyl tRNA-synthetase antibody positivity Anti-glycyl tRNA-synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034146 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase NOT_TRANSLATED -en nl HP:0034147 rdfs:label Anti-aminoacyl-tRNA synthetase antibody positivity Anti-aminoacyl-tRNA synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034147 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme NOT_TRANSLATED -en nl HP:0034148 rdfs:label Anti-isoleucyl tRNA-synthetase antibody positivity Anti-isoleucyl tRNA-synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034148 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase NOT_TRANSLATED -en nl HP:0034149 rdfs:label Anti-phenylalanyl tRNA synthetase antibody positivity Anti-phenylalanyl tRNA synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034149 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase NOT_TRANSLATED -en nl HP:0001382 rdfs:label Joint hypermobility Gewrichtshypermobiliteit CANDIDATE -en nl HP:0001382 IAO:0000115 The ability of a joint to move beyond its normal range of motion The ability of a joint to move beyond its normal range of motion NOT_TRANSLATED -en nl HP:0034150 rdfs:label Anti-tyrosyl-tRNA synthetase antibody positivity Anti-tyrosyl-tRNA synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034150 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase NOT_TRANSLATED -en nl HP:0034151 rdfs:label Anti-asparaginyl-tRNA synthetase antibody positivity Anti-asparaginyl-tRNA synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034151 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase NOT_TRANSLATED -en nl HP:0001384 rdfs:label Abnormal hip joint morphology Afwijking van het heupgewricht CANDIDATE -en nl HP:0001384 IAO:0000115 An abnormality of the hip joint An abnormality of the hip joint NOT_TRANSLATED -en nl HP:0034152 rdfs:label Anti-histidyl tRNA synthetase antibody positivity Anti-histidyl tRNA synthetase antibody positivity NOT_TRANSLATED -en nl HP:0034152 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase NOT_TRANSLATED -en nl HP:0001385 rdfs:label Hip dysplasia Heupdysplasie CANDIDATE -en nl HP:0001385 IAO:0000115 The presence of developmental dysplasia of the hip The presence of developmental dysplasia of the hip NOT_TRANSLATED -en nl HP:0034153 rdfs:label Anti-cytosolic-5-nucleotidase-1A antibody positivity Anti-cytosolic-5-nucleotidase-1A antibody positivity NOT_TRANSLATED -en nl HP:0034153 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A) NOT_TRANSLATED -en nl HP:0001386 rdfs:label Joint swelling Gewrichtszwelling CANDIDATE -en nl HP:0034154 rdfs:label Anti-Ki antibody positivity Anti-Ki antibody positivity NOT_TRANSLATED -en nl HP:0034154 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki NOT_TRANSLATED -en nl HP:0001387 rdfs:label Joint stiffness Gewrichts-stijfheid CANDIDATE -en nl HP:0001387 IAO:0000115 Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time NOT_TRANSLATED -en nl HP:0034155 rdfs:label Anti-sp100 antibody positivity Anti-sp100 antibody positivity NOT_TRANSLATED -en nl HP:0034155 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins NOT_TRANSLATED -en nl HP:0001388 rdfs:label Joint laxity Gewrichtsslapte CANDIDATE -en nl HP:0001388 IAO:0000115 Lack of stability of a joint Lack of stability of a joint NOT_TRANSLATED -en nl HP:0034156 rdfs:label Anti-beta-2-Glycoprotein I IgG antibody positivity Anti-beta-2-Glycoprotein I IgG antibody positivity NOT_TRANSLATED -en nl HP:0034156 IAO:0000115 Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome NOT_TRANSLATED -en nl HP:0034157 rdfs:label Anti-beta-2-Glycoprotein I IgM antibody positivity Anti-beta-2-Glycoprotein I IgM antibody positivity NOT_TRANSLATED -en nl HP:0034157 IAO:0000115 Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome NOT_TRANSLATED -en nl HP:0034158 rdfs:label Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity NOT_TRANSLATED -en nl HP:0034158 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions NOT_TRANSLATED -en nl HP:0034159 rdfs:label Paget disease of bone Paget disease of bone NOT_TRANSLATED -en nl HP:0034159 IAO:0000115 A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture NOT_TRANSLATED -en nl HP:0001392 rdfs:label Abnormality of the liver Afwijking van de lever CANDIDATE -en nl HP:0001392 IAO:0000115 An abnormality of the liver An abnormality of the liver NOT_TRANSLATED -en nl HP:0034160 rdfs:label Abnormal circulating interleukin 9 concentration Abnormal circulating interleukin 9 concentration NOT_TRANSLATED -en nl HP:0034160 IAO:0000115 Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation NOT_TRANSLATED -en nl HP:0034161 rdfs:label Reduced circulating interleukin 9 concentration Reduced circulating interleukin 9 concentration NOT_TRANSLATED -en nl HP:0034161 IAO:0000115 An abnormally decreased concentration of interleukin 9 in the blood circulation An abnormally decreased concentration of interleukin 9 in the blood circulation NOT_TRANSLATED -en nl HP:0001394 rdfs:label Cirrhosis Levercirrose CANDIDATE -en nl HP:0001394 IAO:0000115 A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function NOT_TRANSLATED -en nl HP:0034162 rdfs:label Abnormal circulating interleukin 10 concentration Abnormal circulating interleukin 10 concentration NOT_TRANSLATED -en nl HP:0034162 IAO:0000115 Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation NOT_TRANSLATED -en nl HP:0001395 rdfs:label Hepatic fibrosis Hepatische fibrose CANDIDATE -en nl HP:0001395 IAO:0000115 The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process NOT_TRANSLATED -en nl HP:0034163 rdfs:label Reduced circulating interleukin 10 concentration Reduced circulating interleukin 10 concentration NOT_TRANSLATED -en nl HP:0034163 IAO:0000115 An abnormally decreased concentration of interleukin 10 in the blood circulation An abnormally decreased concentration of interleukin 10 in the blood circulation NOT_TRANSLATED -en nl HP:0001396 rdfs:label Cholestasis Cholestase CANDIDATE -en nl HP:0001396 IAO:0000115 Impairment of bile flow due to obstruction in bile ducts Impairment of bile flow due to obstruction in bile ducts NOT_TRANSLATED -en nl HP:0034164 rdfs:label Abnormal circulating interleukin 21 concentration Abnormal circulating interleukin 21 concentration NOT_TRANSLATED -en nl HP:0034164 IAO:0000115 Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation NOT_TRANSLATED -en nl HP:0001397 rdfs:label Hepatic steatosis Hepatische steatose CANDIDATE -en nl HP:0001397 IAO:0000115 Steatosis is a term used to denote lipid accumulation within hepatocytes Steatosis is a term used to denote lipid accumulation within hepatocytes NOT_TRANSLATED -en nl HP:0034165 rdfs:label Reduced circulating interleukin 21 concentration Reduced circulating interleukin 21 concentration NOT_TRANSLATED -en nl HP:0034165 IAO:0000115 An abnormally decreased concentration of interleukin 21 in the blood circulation An abnormally decreased concentration of interleukin 21 in the blood circulation NOT_TRANSLATED -en nl HP:0034166 rdfs:label Increased circulating interleukin 21 concentration Increased circulating interleukin 21 concentration NOT_TRANSLATED -en nl HP:0034166 IAO:0000115 An abnormally increased concentration of interleukin 21 in the blood circulation An abnormally increased concentration of interleukin 21 in the blood circulation NOT_TRANSLATED -en nl HP:0001399 rdfs:label Hepatic failure Leverfalen CANDIDATE -en nl HP:0034167 rdfs:label Abnormal circulating interleukin 22 concentration Abnormal circulating interleukin 22 concentration NOT_TRANSLATED -en nl HP:0034167 IAO:0000115 Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation NOT_TRANSLATED -en nl HP:0034168 rdfs:label Reduced circulating interleukin 22 concentration Reduced circulating interleukin 22 concentration NOT_TRANSLATED -en nl HP:0034168 IAO:0000115 An abnormally decreased concentration of interleukin 22 in the blood circulation An abnormally decreased concentration of interleukin 22 in the blood circulation NOT_TRANSLATED -en nl HP:0001401 rdfs:label Intrahepatic biliary dysgenesis Intrahepatische biliaire dysgenesie CANDIDATE -en nl HP:0034169 rdfs:label Increased circulating interleukin 22 concentration Increased circulating interleukin 22 concentration NOT_TRANSLATED -en nl HP:0034169 IAO:0000115 An abnormally increased concentration of interleukin 22 in the blood circulation An abnormally increased concentration of interleukin 22 in the blood circulation NOT_TRANSLATED -en nl HP:0001402 rdfs:label Hepatocellular carcinoma Hepatocellulair carcinoom CANDIDATE -en nl HP:0001402 IAO:0000115 A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver NOT_TRANSLATED -en nl HP:0034170 rdfs:label Abnormal circulating interleukin 23 concentration Abnormal circulating interleukin 23 concentration NOT_TRANSLATED -en nl HP:0034170 IAO:0000115 Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation NOT_TRANSLATED -en nl HP:0001403 rdfs:label Macrovesicular hepatic steatosis Macrovesiculaire hepatische steatose CANDIDATE -en nl HP:0001403 IAO:0000115 A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes NOT_TRANSLATED -en nl HP:0034171 rdfs:label Reduced circulating interleukin 23 concentration Reduced circulating interleukin 23 concentration NOT_TRANSLATED -en nl HP:0034171 IAO:0000115 An abnormally decreased concentration of interleukin 23 in the blood circulation An abnormally decreased concentration of interleukin 23 in the blood circulation NOT_TRANSLATED -en nl HP:0001404 rdfs:label Hepatocellular necrosis Hepatocellulaire necrose CANDIDATE -en nl HP:0034172 rdfs:label Increased circulating interleukin 23 concentration Increased circulating interleukin 23 concentration NOT_TRANSLATED -en nl HP:0034172 IAO:0000115 An abnormally increased concentration of interleukin 23 in the blood circulation An abnormally increased concentration of interleukin 23 in the blood circulation NOT_TRANSLATED -en nl HP:0001405 rdfs:label Periportal fibrosis Periportale fibrose CANDIDATE -en nl HP:0001405 IAO:0000115 The presence of fibrosis affecting the interlobular stroma of liver The presence of fibrosis affecting the interlobular stroma of liver NOT_TRANSLATED -en nl HP:0034173 rdfs:label Abnormal circulating interleukin 27 concentration Abnormal circulating interleukin 27 concentration NOT_TRANSLATED -en nl HP:0034173 IAO:0000115 Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation NOT_TRANSLATED -en nl HP:0001406 rdfs:label Intrahepatic cholestasis Intrahepatische cholestase CANDIDATE -en nl HP:0001406 IAO:0000115 Impairment of bile flow due to obstruction in the small bile ducts within the liver Impairment of bile flow due to obstruction in the small bile ducts within the liver NOT_TRANSLATED -en nl HP:0034174 rdfs:label Reduced circulating interleukin 27 concentration Reduced circulating interleukin 27 concentration NOT_TRANSLATED -en nl HP:0034174 IAO:0000115 An abnormally decreased concentration of interleukin 27 in the blood circulation An abnormally decreased concentration of interleukin 27 in the blood circulation NOT_TRANSLATED -en nl HP:0001407 rdfs:label Hepatic cysts Hepatische cysten CANDIDATE -en nl HP:0034175 rdfs:label Increased circulating interleukin 27 concentration Increased circulating interleukin 27 concentration NOT_TRANSLATED -en nl HP:0034175 IAO:0000115 An abnormally increased concentration of interleukin 27 in the blood circulation An abnormally increased concentration of interleukin 27 in the blood circulation NOT_TRANSLATED -en nl HP:0001408 rdfs:label Bile duct proliferation Galkanaalproliferatie CANDIDATE -en nl HP:0001408 IAO:0000115 Proliferative changes of the bile ducts Proliferative changes of the bile ducts NOT_TRANSLATED -en nl HP:0034176 rdfs:label Abnormal circulating interleukin 17A concentration Abnormal circulating interleukin 17A concentration NOT_TRANSLATED -en nl HP:0034176 IAO:0000115 Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation NOT_TRANSLATED -en nl HP:0001409 rdfs:label Portal hypertension Portale hypertensie CANDIDATE -en nl HP:0001409 IAO:0000115 Increased pressure in the portal vein Increased pressure in the portal vein NOT_TRANSLATED -en nl HP:0034177 rdfs:label Reduced circulating interleukin 17A concentration Reduced circulating interleukin 17A concentration NOT_TRANSLATED -en nl HP:0034177 IAO:0000115 An abnormally decreased concentration of interleukin 17A in the blood circulation An abnormally decreased concentration of interleukin 17A in the blood circulation NOT_TRANSLATED -en nl HP:0001410 rdfs:label Decreased liver function Verminderde leverfunctie CANDIDATE -en nl HP:0001410 IAO:0000115 Reduced ability of the liver to perform its functions Reduced ability of the liver to perform its functions NOT_TRANSLATED -en nl HP:0034178 rdfs:label Increased circulating interleukin 17A concentration Increased circulating interleukin 17A concentration NOT_TRANSLATED -en nl HP:0034178 IAO:0000115 An abnormally increased concentration of interleukin 17A in the blood circulation An abnormally increased concentration of interleukin 17A in the blood circulation NOT_TRANSLATED -en nl HP:0034179 rdfs:label Vertebral artery aneurysm Vertebral artery aneurysm NOT_TRANSLATED -en nl HP:0034179 IAO:0000115 Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery NOT_TRANSLATED -en nl HP:0001412 rdfs:label Enteroviral hepatitis Enterovirale hepatitis CANDIDATE -en nl HP:0001412 IAO:0000115 Inflammation of the liver due to infection with enterovirus Inflammation of the liver due to infection with enterovirus NOT_TRANSLATED -en nl HP:0034180 rdfs:label Fusion of the caudate and putamen Fusion of the caudate and putamen NOT_TRANSLATED -en nl HP:0034180 IAO:0000115 Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule NOT_TRANSLATED -en nl HP:0001413 rdfs:label Micronodular cirrhosis Micronodulaire cirrose CANDIDATE -en nl HP:0001413 IAO:0000115 A type of cirrhosis characterized by the presence of small regenerative nodules A type of cirrhosis characterized by the presence of small regenerative nodules NOT_TRANSLATED -en nl HP:0034181 rdfs:label Aplasia/Hypoplasia of the liver Aplasia/Hypoplasia of the liver NOT_TRANSLATED -en nl HP:0034181 IAO:0000115 Absence or underdevelopment of the liver Absence or underdevelopment of the liver NOT_TRANSLATED -en nl HP:0001414 rdfs:label Microvesicular hepatic steatosis Microvesiculaire hepatische steatose CANDIDATE -en nl HP:0001414 IAO:0000115 A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes NOT_TRANSLATED -en nl HP:0034182 rdfs:label Segmental hypoplasia of liver Segmental hypoplasia of liver NOT_TRANSLATED -en nl HP:0034182 IAO:0000115 Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging NOT_TRANSLATED -en nl HP:0034183 rdfs:label Spastic triplegia Spastic triplegia NOT_TRANSLATED -en nl HP:0034183 IAO:0000115 Spastic weakness found in both lower extremities and one upper extremity Spastic weakness found in both lower extremities and one upper extremity NOT_TRANSLATED -en nl HP:0034184 rdfs:label Increased insulin like growth factor binding protein acid labile subunit concentration Increased insulin like growth factor binding protein acid labile subunit concentration NOT_TRANSLATED -en nl HP:0034184 IAO:0000115 An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation NOT_TRANSLATED -en nl HP:0001417 rdfs:label X-linked inheritance X-gebonden overerving CANDIDATE -en nl HP:0001417 IAO:0000115 A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome NOT_TRANSLATED -en nl HP:0034185 rdfs:label Median pseudocleft lip Median pseudocleft lip NOT_TRANSLATED -en nl HP:0034185 IAO:0000115 A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline NOT_TRANSLATED -en nl HP:0034186 rdfs:label Patella alta Patella alta NOT_TRANSLATED -en nl HP:0034186 IAO:0000115 Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea NOT_TRANSLATED -en nl HP:0001419 rdfs:label X-linked recessive inheritance X-gebonden recessieve overerving CANDIDATE -en nl HP:0001419 IAO:0000115 A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele NOT_TRANSLATED -en nl HP:0034187 rdfs:label Clavicular pseudarthrosis Clavicular pseudarthrosis NOT_TRANSLATED -en nl HP:0034187 IAO:0000115 A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint) A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint) NOT_TRANSLATED -en nl HP:0034188 rdfs:label Midline liver Midline liver NOT_TRANSLATED -en nl HP:0034188 IAO:0000115 Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach NOT_TRANSLATED -en nl HP:0001421 rdfs:label Abnormality of the musculature of the hand Afwijking van de handmusculatuur CANDIDATE -en nl HP:0034189 rdfs:label Anti-thyroid-stimulating hormone receptor antibody positivity Anti-thyroid-stimulating hormone receptor antibody positivity NOT_TRANSLATED -en nl HP:0034189 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone NOT_TRANSLATED -en nl HP:0034190 rdfs:label Abnormal fetal cardiovascular physiology Abnormal fetal cardiovascular physiology NOT_TRANSLATED -en nl HP:0034190 IAO:0000115 Abnormal functionality of the fetal cardiovascular system Abnormal functionality of the fetal cardiovascular system NOT_TRANSLATED -en nl HP:0001423 rdfs:label X-linked dominant inheritance X-gebonden dominante overerving CANDIDATE -en nl HP:0001423 IAO:0000115 A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation NOT_TRANSLATED -en nl HP:0034191 rdfs:label Elevated fetal middle cerebral artery peak systolic velocity Elevated fetal middle cerebral artery peak systolic velocity NOT_TRANSLATED -en nl HP:0034191 IAO:0000115 Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound NOT_TRANSLATED -en nl HP:0034192 rdfs:label Pulmonary thromboembolism Pulmonary thromboembolism NOT_TRANSLATED -en nl HP:0034192 IAO:0000115 Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung NOT_TRANSLATED -en nl HP:0034193 rdfs:label Stratum basale cleavage Stratum basale cleavage NOT_TRANSLATED -en nl HP:0034193 IAO:0000115 Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis NOT_TRANSLATED -en nl HP:0001426 rdfs:label Multifactorial inheritance Multifactoriële overerving CANDIDATE -en nl HP:0001426 IAO:0000115 A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases NOT_TRANSLATED -en nl HP:0034194 rdfs:label Suprabasal cleavage Suprabasal cleavage NOT_TRANSLATED -en nl HP:0034194 IAO:0000115 Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells NOT_TRANSLATED -en nl HP:0001427 rdfs:label Mitochondrial inheritance Mitochondriële overerving CANDIDATE -en nl HP:0001427 IAO:0000115 A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy) A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy) NOT_TRANSLATED -en nl HP:0034195 rdfs:label Triggered by muscle relaxant Triggered by muscle relaxant NOT_TRANSLATED -en nl HP:0034195 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium NOT_TRANSLATED -en nl HP:0001428 rdfs:label Somatic mutation Somatische mutatie CANDIDATE -en nl HP:0001428 IAO:0000115 A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation NOT_TRANSLATED -en nl HP:0034196 rdfs:label Ductus venosus agenesis Ductus venosus agenesis NOT_TRANSLATED -en nl HP:0034196 IAO:0000115 A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation) A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation) NOT_TRANSLATED -en nl HP:0034197 rdfs:label Third trimester onset Third trimester onset NOT_TRANSLATED -en nl HP:0034197 IAO:0000115 This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond NOT_TRANSLATED -en nl HP:0001430 rdfs:label Abnormality of the calf musculature Afwijking van de kuitmusculatuur CANDIDATE -en nl HP:0034198 rdfs:label Second trimester onset Second trimester onset NOT_TRANSLATED -en nl HP:0034198 IAO:0000115 This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive) This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive) NOT_TRANSLATED -en nl HP:0034199 rdfs:label Late first trimester onset Late first trimester onset NOT_TRANSLATED -en nl HP:0034199 IAO:0000115 This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive) This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive) NOT_TRANSLATED -en nl HP:0034200 rdfs:label Abnormal CSF homovanillic acid concentration Abnormal CSF homovanillic acid concentration NOT_TRANSLATED -en nl HP:0034200 IAO:0000115 Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine NOT_TRANSLATED -en nl HP:0001433 rdfs:label Hepatosplenomegaly Hepatosplenomegalie CANDIDATE -en nl HP:0001433 IAO:0000115 Simultaneous enlargement of the liver and spleen Simultaneous enlargement of the liver and spleen NOT_TRANSLATED -en nl HP:0034201 rdfs:label Increased CSF homovanillic acid concentration Increased CSF homovanillic acid concentration NOT_TRANSLATED -en nl HP:0034201 IAO:0000115 Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine NOT_TRANSLATED -en nl HP:0034202 rdfs:label Abnormal iduronate sulfatase concentration Abnormal iduronate sulfatase concentration NOT_TRANSLATED -en nl HP:0001435 rdfs:label Abnormality of the shoulder girdle musculature Afwijking van de schoudergordelmusculatuur CANDIDATE -en nl HP:0034203 rdfs:label Decreased iduronate sulfatase level Decreased iduronate sulfatase level NOT_TRANSLATED -en nl HP:0034203 IAO:0000115 An decreased level of iduronate-2-sulfatase activity in the blood circulation An decreased level of iduronate-2-sulfatase activity in the blood circulation NOT_TRANSLATED -en nl HP:0001436 rdfs:label Abnormality of the foot musculature Afwijking van de voetmusculatuur CANDIDATE -en nl HP:0001436 IAO:0000115 An anomaly of the musculature of foot An anomaly of the musculature of foot NOT_TRANSLATED -en nl HP:0034204 rdfs:label Decreased circulating C1-esterase inhibitor concentration Decreased circulating C1-esterase inhibitor concentration NOT_TRANSLATED -en nl HP:0034204 IAO:0000115 Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation NOT_TRANSLATED -en nl HP:0001437 rdfs:label Abnormality of the musculature of the lower limbs Afwijking van de musculatuur van de onderste ledematen CANDIDATE -en nl HP:0034205 rdfs:label Iniencephaly Iniencephaly NOT_TRANSLATED -en nl HP:0034205 IAO:0000115 Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion NOT_TRANSLATED -en nl HP:0001438 rdfs:label Abnormal abdomen morphology Afwijking van de morfologie van de buik CANDIDATE -en nl HP:0001438 IAO:0000115 A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax NOT_TRANSLATED -en nl HP:0034206 rdfs:label Abnormal fetal central nervous system morphology Abnormal fetal central nervous system morphology NOT_TRANSLATED -en nl HP:0034206 IAO:0000115 An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0034207 rdfs:label Abnormal fetal gastrointestinal system morphology Abnormal fetal gastrointestinal system morphology NOT_TRANSLATED -en nl HP:0034207 IAO:0000115 An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0001440 rdfs:label Metatarsal synostosis Metatarsale synostose CANDIDATE -en nl HP:0034208 rdfs:label Fetal intracranial hemorrhage Fetal intracranial hemorrhage NOT_TRANSLATED -en nl HP:0034208 IAO:0000115 Abnormal bleeding inside the skull (cranium) of a fetus Abnormal bleeding inside the skull (cranium) of a fetus NOT_TRANSLATED -en nl HP:0001441 rdfs:label Abnormality of the musculature of the thigh Afwijking van de bovenbeenmusculatuur CANDIDATE -en nl HP:0034209 rdfs:label Fetal subependymal hemorrhage Fetal subependymal hemorrhage NOT_TRANSLATED -en nl HP:0034209 IAO:0000115 A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch NOT_TRANSLATED -en nl HP:0001442 rdfs:label Somatic mosaicism Somatisch mozaïcisme CANDIDATE -en nl HP:0001442 IAO:0000115 The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations NOT_TRANSLATED -en nl HP:0034210 rdfs:label Fetal intraventricular hemorrhage Fetal intraventricular hemorrhage NOT_TRANSLATED -en nl HP:0034210 IAO:0000115 A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain NOT_TRANSLATED -en nl HP:0001443 rdfs:label Abnormality of the gluteal musculature Afwijking van de gluteale musculatuur CANDIDATE -en nl HP:0034211 rdfs:label Fetal cerebral parenchymal hemorrhage Fetal cerebral parenchymal hemorrhage NOT_TRANSLATED -en nl HP:0034211 IAO:0000115 A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain NOT_TRANSLATED -en nl HP:0001444 rdfs:label Autosomal dominant somatic cell mutation Autosomale dominante somatische celmutatie CANDIDATE -en nl HP:0001444 IAO:0000115 Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body NOT_TRANSLATED -en nl HP:0034212 rdfs:label Fetal extra-axial hemorrhage Fetal extra-axial hemorrhage NOT_TRANSLATED -en nl HP:0034212 IAO:0000115 A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space) A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space) NOT_TRANSLATED -en nl HP:0001445 rdfs:label Abnormality of the hip-girdle musculature Afwijking van de bekkengordelmusculatuur CANDIDATE -en nl HP:0034213 rdfs:label Fetal posterior fossa hemorrhage Fetal posterior fossa hemorrhage NOT_TRANSLATED -en nl HP:0034213 IAO:0000115 A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum NOT_TRANSLATED -en nl HP:0001446 rdfs:label Abnormality of the musculature of the upper limbs Afwijking van de musculatuur van de bovenste ledematen CANDIDATE -en nl HP:0034214 rdfs:label Fetal intraventricular hemorrhage without ventriculomegaly Fetal intraventricular hemorrhage without ventriculomegaly NOT_TRANSLATED -en nl HP:0034214 IAO:0000115 A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium NOT_TRANSLATED -en nl HP:0034215 rdfs:label Fetal cerebellar hemisphere hemorrhage Fetal cerebellar hemisphere hemorrhage NOT_TRANSLATED -en nl HP:0034215 IAO:0000115 A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum NOT_TRANSLATED -en nl HP:0034216 rdfs:label Fetal cerebellar vermis hemorrhage Fetal cerebellar vermis hemorrhage NOT_TRANSLATED -en nl HP:0034216 IAO:0000115 A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum NOT_TRANSLATED -en nl HP:0001449 rdfs:label Duplication of metatarsal bones Duplicatie van metatarsale botten CANDIDATE -en nl HP:0034217 rdfs:label Sonographic non-visualized fetal bladder Sonographic non-visualized fetal bladder NOT_TRANSLATED -en nl HP:0034217 IAO:0000115 Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation NOT_TRANSLATED -en nl HP:0001450 rdfs:label Y-linked inheritance Y-gekoppelde overerving CANDIDATE -en nl HP:0001450 IAO:0000115 A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome NOT_TRANSLATED -en nl HP:0034218 rdfs:label Fetal intraventricular hemorrhage with ventriculomegaly Fetal intraventricular hemorrhage with ventriculomegaly NOT_TRANSLATED -en nl HP:0034218 IAO:0000115 A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography NOT_TRANSLATED -en nl HP:0034219 rdfs:label Fetal intraventricular hemorrhage with periventricular hemorrhage Fetal intraventricular hemorrhage with periventricular hemorrhage NOT_TRANSLATED -en nl HP:0034219 IAO:0000115 A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma NOT_TRANSLATED -en nl HP:0034220 rdfs:label Temporal lobe megalencephaly Temporal lobe megalencephaly NOT_TRANSLATED -en nl HP:0034220 IAO:0000115 Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain NOT_TRANSLATED -en nl HP:0034221 rdfs:label Abnormal temporal lobe morphology Abnormal temporal lobe morphology NOT_TRANSLATED -en nl HP:0034221 IAO:0000115 An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres NOT_TRANSLATED -en nl HP:0001454 rdfs:label Abnormality of the upper arm Afwijking van de bovenarm CANDIDATE -en nl HP:0034222 rdfs:label Temporal lobe dysplasia Temporal lobe dysplasia NOT_TRANSLATED -en nl HP:0034222 IAO:0000115 A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations NOT_TRANSLATED -en nl HP:0034223 rdfs:label Elevated umbilical artery pulsatility Elevated umbilical artery pulsatility NOT_TRANSLATED -en nl HP:0034223 IAO:0000115 Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth NOT_TRANSLATED -en nl HP:0034224 rdfs:label Absent end-diastolic umbilical artery flow Absent end-diastolic umbilical artery flow NOT_TRANSLATED -en nl HP:0034224 IAO:0000115 An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole NOT_TRANSLATED -en nl HP:0001457 rdfs:label Abnormality of the musculature of the upper arm Afwijking van de musculatuur van de bovenarm CANDIDATE -en nl HP:0034225 rdfs:label Reversed end-diastolic umbilical artery flow Reversed end-diastolic umbilical artery flow NOT_TRANSLATED -en nl HP:0034225 IAO:0000115 An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow) An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow) NOT_TRANSLATED -en nl HP:0034226 rdfs:label Champagne cork sign Champagne cork sign NOT_TRANSLATED -en nl HP:0034226 IAO:0000115 Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding NOT_TRANSLATED -en nl HP:0001459 rdfs:label 1-3 toe syndactyly 1-3 teen syndactylie CANDIDATE -en nl HP:0001459 IAO:0000115 Syndactyly with fusion of toes one to three Syndactyly with fusion of toes one to three NOT_TRANSLATED -en nl HP:0034227 rdfs:label Aortic isthmus hypoplasia Aortic isthmus hypoplasia NOT_TRANSLATED -en nl HP:0034227 IAO:0000115 A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta NOT_TRANSLATED -en nl HP:0001460 rdfs:label Aplasia/Hypoplasia involving the skeletal musculature Aplasie/Hypoplasie waarbij de skeletmusculatuur betrokken is CANDIDATE -en nl HP:0001460 IAO:0000115 Absence or underdevelopment of the musculature Absence or underdevelopment of the musculature NOT_TRANSLATED -en nl HP:0034228 rdfs:label Proximal aortic arch hypoplasia Proximal aortic arch hypoplasia NOT_TRANSLATED -en nl HP:0034228 IAO:0000115 A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta NOT_TRANSLATED -en nl HP:0034229 rdfs:label Distal aortic arch hypoplasia Distal aortic arch hypoplasia NOT_TRANSLATED -en nl HP:0034229 IAO:0000115 A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta NOT_TRANSLATED -en nl HP:0034230 rdfs:label Inferior crossed fused renal ectopia Inferior crossed fused renal ectopia NOT_TRANSLATED -en nl HP:0034230 IAO:0000115 A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position) A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position) NOT_TRANSLATED -en nl HP:0034231 rdfs:label Sigmoid kidney Sigmoid kidney NOT_TRANSLATED -en nl HP:0034231 IAO:0000115 A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation NOT_TRANSLATED -en nl HP:0001464 rdfs:label Aplasia/Hypoplasia involving the shoulder musculature Aplasie/hypoplasie waarbij de schoudermusculatuur betrokken is CANDIDATE -en nl HP:0001464 IAO:0000115 Absence or underdevelopment of the muscles of the shoulder Absence or underdevelopment of the muscles of the shoulder NOT_TRANSLATED -en nl HP:0034232 rdfs:label Unilateral lump kidney Unilateral lump kidney NOT_TRANSLATED -en nl HP:0034232 IAO:0000115 A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly NOT_TRANSLATED -en nl HP:0001465 rdfs:label Amyotrophy involving the shoulder musculature Amyotrofie waarbij de schoudermusculatuur betrokken is CANDIDATE -en nl HP:0034233 rdfs:label Disc kidney Disc kidney NOT_TRANSLATED -en nl HP:0034233 IAO:0000115 A type of cross fused renal ectopia in which kidneys fuse along their medial borders A type of cross fused renal ectopia in which kidneys fuse along their medial borders NOT_TRANSLATED -en nl HP:0001466 rdfs:label Contiguous gene syndrome Aaneengesloten gen syndroom CANDIDATE -en nl HP:0001466 IAO:0000115 A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes NOT_TRANSLATED -en nl HP:0034234 rdfs:label L-shaped kidney L-shaped kidney NOT_TRANSLATED -en nl HP:0034234 IAO:0000115 A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney NOT_TRANSLATED -en nl HP:0001467 rdfs:label Aplasia/Hypoplasia involving the musculature of the upper limbs Aplasie/hypoplasie waarbij de musculatuur van de bovenste ledematen betrokken is CANDIDATE -en nl HP:0001467 IAO:0000115 Absence or underdevelopment of the musculature of the upper limbs Absence or underdevelopment of the musculature of the upper limbs NOT_TRANSLATED -en nl HP:0034235 rdfs:label Superior crossed-fused renal ectopia Superior crossed-fused renal ectopia NOT_TRANSLATED -en nl HP:0034235 IAO:0000115 A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly NOT_TRANSLATED -en nl HP:0001468 rdfs:label Aplasia/Hypoplasia involving the musculature of the upper arm Aplasie/hypoplasie waarbij de musculatuur van de bovenarm betrokken is CANDIDATE -en nl HP:0001468 IAO:0000115 Absence or underdevelopment of the muscles of the upper arm Absence or underdevelopment of the muscles of the upper arm NOT_TRANSLATED -en nl HP:0034236 rdfs:label Apnea of prematurity Apnea of prematurity NOT_TRANSLATED -en nl HP:0034236 IAO:0000115 Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation NOT_TRANSLATED -en nl HP:0001469 rdfs:label Abnormal morphology of the pelvis musculature Afwijking van de bekkenmusculatuur CANDIDATE -en nl HP:0034237 rdfs:label Open neural tube defect Open neural tube defect NOT_TRANSLATED -en nl HP:0034237 IAO:0000115 A type of neural tube defect that is not covered by skin A type of neural tube defect that is not covered by skin NOT_TRANSLATED -en nl HP:0001470 rdfs:label Sex-limited expression Geslachtsbeperkt autosomaal dominant CANDIDATE -en nl HP:0001470 IAO:0000115 Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex NOT_TRANSLATED -en nl HP:0034238 rdfs:label Closed neural tube defect Closed neural tube defect NOT_TRANSLATED -en nl HP:0034238 IAO:0000115 A type of neural tube defect that is covered by skin A type of neural tube defect that is covered by skin NOT_TRANSLATED -en nl HP:0001471 rdfs:label Aplasia/Hypoplasia of the musculature of the pelvis Aplasie/hypoplasie van de bekkenmusculatuur CANDIDATE -en nl HP:0034239 rdfs:label Renal vein thrombosis Renal vein thrombosis NOT_TRANSLATED -en nl HP:0034239 IAO:0000115 The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output NOT_TRANSLATED -en nl HP:0034240 rdfs:label Fetal neck mass Fetal neck mass NOT_TRANSLATED -en nl HP:0034240 IAO:0000115 An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more NOT_TRANSLATED -en nl HP:0001473 rdfs:label Metatarsal osteolysis Metatarsale osteolyse CANDIDATE -en nl HP:0001473 IAO:0000115 Osteolysis involving metatarsal bones Osteolysis involving metatarsal bones NOT_TRANSLATED -en nl HP:0034241 rdfs:label Prenatal death Prenatal death NOT_TRANSLATED -en nl HP:0034241 IAO:0000115 Death of a fetus in the uterus Death of a fetus in the uterus NOT_TRANSLATED -en nl HP:0001474 rdfs:label Sclerotic scapulae Sclerotische scapulae CANDIDATE -en nl HP:0001474 IAO:0000115 Increased density of the bony tissue of the scapula Increased density of the bony tissue of the scapula NOT_TRANSLATED -en nl HP:0034242 rdfs:label Abnormal fetal genitourinary system morphology Abnormal fetal genitourinary system morphology NOT_TRANSLATED -en nl HP:0034242 IAO:0000115 An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0001475 rdfs:label Male-limited expression Man-gelimiteerd autosomaal dominant CANDIDATE -en nl HP:0001475 IAO:0000115 Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex NOT_TRANSLATED -en nl HP:0034243 rdfs:label Abnormal fetal pulmonary morphology Abnormal fetal pulmonary morphology NOT_TRANSLATED -en nl HP:0034243 IAO:0000115 An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0001476 rdfs:label Delayed closure of the anterior fontanelle Vertraagde sluiting van de voorste fontanel CANDIDATE -en nl HP:0001476 IAO:0000115 A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life NOT_TRANSLATED -en nl HP:0034244 rdfs:label Gastric pseudomass Gastric pseudomass NOT_TRANSLATED -en nl HP:0034244 IAO:0000115 At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass NOT_TRANSLATED -en nl HP:0001477 rdfs:label Compensatory chin elevation Compenserende kinhoogte CANDIDATE -en nl HP:0001477 IAO:0000115 A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement NOT_TRANSLATED -en nl HP:0034245 rdfs:label Fetal head anomaly Fetal head anomaly NOT_TRANSLATED -en nl HP:0034246 rdfs:label Fetal scalp mass Fetal scalp mass NOT_TRANSLATED -en nl HP:0034246 IAO:0000115 An abnormal growth (lump) of tissue that projects from the fetal scalp An abnormal growth (lump) of tissue that projects from the fetal scalp NOT_TRANSLATED -en nl HP:0034247 rdfs:label Fetal lower urinary tract obstruction Fetal lower urinary tract obstruction NOT_TRANSLATED -en nl HP:0034247 IAO:0000115 An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis NOT_TRANSLATED -en nl HP:0001480 rdfs:label Freckling Sproeten CANDIDATE -en nl HP:0001480 IAO:0000115 The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin NOT_TRANSLATED -en nl HP:0034248 rdfs:label Increased fetal lens echogenicity Increased fetal lens echogenicity NOT_TRANSLATED -en nl HP:0034248 IAO:0000115 Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus NOT_TRANSLATED -en nl HP:0034249 rdfs:label Severe influenza infection Severe influenza infection NOT_TRANSLATED -en nl HP:0034249 IAO:0000115 An unusually severe infection by an influenza virus An unusually severe infection by an influenza virus NOT_TRANSLATED -en nl HP:0001482 rdfs:label Subcutaneous nodule Subcutane noduul CANDIDATE -en nl HP:0001482 IAO:0000115 Slightly elevated lesions on or in the skin with a diameter of over 5 mm Slightly elevated lesions on or in the skin with a diameter of over 5 mm NOT_TRANSLATED -en nl HP:0034250 rdfs:label Fetal nuchal edema Fetal nuchal edema NOT_TRANSLATED -en nl HP:0034250 IAO:0000115 Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis NOT_TRANSLATED -en nl HP:0001483 rdfs:label Eye poking Oog prikken CANDIDATE -en nl HP:0001483 IAO:0000115 Repetitive pressing, poking, and/or rubbing in the eyes Repetitive pressing, poking, and/or rubbing in the eyes NOT_TRANSLATED -en nl HP:0034251 rdfs:label Abnormal corneal reflex Abnormal corneal reflex NOT_TRANSLATED -en nl HP:0034251 IAO:0000115 An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea NOT_TRANSLATED -en nl HP:0034252 rdfs:label Absent corneal reflex Absent corneal reflex NOT_TRANSLATED -en nl HP:0034252 IAO:0000115 Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles NOT_TRANSLATED -en nl HP:0034253 rdfs:label Eosinophil nuclear hypersegmentation Eosinophil nuclear hypersegmentation NOT_TRANSLATED -en nl HP:0034253 IAO:0000115 An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes NOT_TRANSLATED -en nl HP:0034254 rdfs:label Face of the giant panda sign Face of the giant panda sign NOT_TRANSLATED -en nl HP:0034254 IAO:0000115 The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda NOT_TRANSLATED -en nl HP:0034255 rdfs:label Colovesical fistula Colovesical fistula NOT_TRANSLATED -en nl HP:0034255 IAO:0000115 An aberrant, pathological communication between the colon and the bladder An aberrant, pathological communication between the colon and the bladder NOT_TRANSLATED -en nl HP:0001488 rdfs:label Bilateral ptosis Bilaterale ptosis CANDIDATE -en nl HP:0034256 rdfs:label Absent dermoepidermal hemidesmosomes Absent dermoepidermal hemidesmosomes NOT_TRANSLATED -en nl HP:0034256 IAO:0000115 Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin NOT_TRANSLATED -en nl HP:0001489 rdfs:label Posterior vitreous detachment Glasvochtloslating CANDIDATE -en nl HP:0001489 IAO:0000115 Separation of the vitreous humor from the retina Separation of the vitreous humor from the retina NOT_TRANSLATED -en nl HP:0034257 rdfs:label C4 nephritic factor positivity C4 nephritic factor positivity NOT_TRANSLATED -en nl HP:0034257 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement NOT_TRANSLATED -en nl HP:0034258 rdfs:label Aplasia/Hypoplasia of the midbrain Aplasia/Hypoplasia of the midbrain NOT_TRANSLATED -en nl HP:0034258 IAO:0000115 Absence or underdevelopment of the midbrain (mesencephalon) Absence or underdevelopment of the midbrain (mesencephalon) NOT_TRANSLATED -en nl HP:0001491 rdfs:label Congenital fibrosis of extraocular muscles Congenitale fibrose van extraoculaire spieren CANDIDATE -en nl HP:0001491 IAO:0000115 Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements NOT_TRANSLATED -en nl HP:0034259 rdfs:label Hypoplasia of the midbrain Hypoplasia of the midbrain NOT_TRANSLATED -en nl HP:0034259 IAO:0000115 A developmental defect characterized by underdevelopment of the mesencephalon A developmental defect characterized by underdevelopment of the mesencephalon NOT_TRANSLATED -en nl HP:0001492 rdfs:label Axenfeld anomaly Axenfeld syndroom CANDIDATE -en nl HP:0001492 IAO:0000115 Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line NOT_TRANSLATED -en nl HP:0034260 rdfs:label Aplastic zygomatic arch Aplastic zygomatic arch NOT_TRANSLATED -en nl HP:0034260 IAO:0000115 Developmental defect characterized by the absence of the zygomatic arch Developmental defect characterized by the absence of the zygomatic arch NOT_TRANSLATED -en nl HP:0001493 rdfs:label Falciform retinal fold Gebogen retinale vouw CANDIDATE -en nl HP:0001493 IAO:0000115 An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset NOT_TRANSLATED -en nl HP:0034261 rdfs:label Aplasia/Hypoplasia of facial bones Aplasia/Hypoplasia of facial bones NOT_TRANSLATED -en nl HP:0034261 IAO:0000115 A developmental defect characterized by absence or underdevelopment of one or more facial bone A developmental defect characterized by absence or underdevelopment of one or more facial bone NOT_TRANSLATED -en nl HP:0034262 rdfs:label Absent lanugo Absent lanugo NOT_TRANSLATED -en nl HP:0034262 IAO:0000115 Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby NOT_TRANSLATED -en nl HP:0001495 rdfs:label Carpal osteolysis Carpale osteolyse CANDIDATE -en nl HP:0001495 IAO:0000115 Osteolysis affecting carpal bones Osteolysis affecting carpal bones NOT_TRANSLATED -en nl HP:0034263 rdfs:label Abnormal vaginal bleeding Abnormal vaginal bleeding NOT_TRANSLATED -en nl HP:0034263 IAO:0000115 Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal NOT_TRANSLATED -en nl HP:0034264 rdfs:label Postcoital vaginal bleeding Postcoital vaginal bleeding NOT_TRANSLATED -en nl HP:0034264 IAO:0000115 Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle NOT_TRANSLATED -en nl HP:0034265 rdfs:label Mastalgia Mastalgia NOT_TRANSLATED -en nl HP:0034265 IAO:0000115 Pain in the breast Pain in the breast NOT_TRANSLATED -en nl HP:0001498 rdfs:label Carpal bone hypoplasia Hypoplasie van carpale botten CANDIDATE -en nl HP:0001498 IAO:0000115 Underdevelopment of one or more carpal bones Underdevelopment of one or more carpal bones NOT_TRANSLATED -en nl HP:0034266 rdfs:label Vaginal bleeding during sex Vaginal bleeding during sex NOT_TRANSLATED -en nl HP:0034266 IAO:0000115 Bleeding during sex Bleeding during sex NOT_TRANSLATED -en nl HP:0034267 rdfs:label Pelvic pain Pelvic pain NOT_TRANSLATED -en nl HP:0034267 IAO:0000115 Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones NOT_TRANSLATED -en nl HP:0001500 rdfs:label Broad finger Brede vinger CANDIDATE -en nl HP:0001500 IAO:0000115 Increased width of a non-thumb digit of the hand Increased width of a non-thumb digit of the hand NOT_TRANSLATED -en nl HP:0034268 rdfs:label Abnormal vaginal physiology Abnormal vaginal physiology NOT_TRANSLATED -en nl HP:0034268 IAO:0000115 Any anomaly of vagina function Any anomaly of vagina function NOT_TRANSLATED -en nl HP:0001501 rdfs:label 6 metacarpals 6 middelhandsbeentjes CANDIDATE -en nl HP:0034269 rdfs:label Abnormal vaginal discharge Abnormal vaginal discharge NOT_TRANSLATED -en nl HP:0034269 IAO:0000115 Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina NOT_TRANSLATED -en nl HP:0034270 rdfs:label Serrated incisors Serrated incisors NOT_TRANSLATED -en nl HP:0034270 IAO:0000115 Incisor teeth with irregular edges said to resemble a saw Incisor teeth with irregular edges said to resemble a saw NOT_TRANSLATED -en nl HP:0034271 rdfs:label Copper beaten skull Copper beaten skull NOT_TRANSLATED -en nl HP:0034271 IAO:0000115 Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper NOT_TRANSLATED -en nl HP:0001504 rdfs:label Metacarpal osteolysis Metacarpale osteolyse CANDIDATE -en nl HP:0034272 rdfs:label Perifoveal hypoautofluorescence Perifoveal hypoautofluorescence NOT_TRANSLATED -en nl HP:0034272 IAO:0000115 Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea NOT_TRANSLATED -en nl HP:0034273 rdfs:label Premature sagging cheeks Premature sagging cheeks NOT_TRANSLATED -en nl HP:0034273 IAO:0000115 Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation NOT_TRANSLATED -en nl HP:0034274 rdfs:label Gastrointestinal ulcer Gastrointestinal ulcer NOT_TRANSLATED -en nl HP:0034274 IAO:0000115 A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae NOT_TRANSLATED -en nl HP:0001507 rdfs:label Growth abnormality Abnormale groei CANDIDATE -en nl HP:0034275 rdfs:label Verrucous epidermal nevus Verrucous epidermal nevus NOT_TRANSLATED -en nl HP:0034275 IAO:0000115 A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life NOT_TRANSLATED -en nl HP:0001508 rdfs:label Failure to thrive Groeiachterstand CANDIDATE -en nl HP:0001508 IAO:0000115 Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm NOT_TRANSLATED -en nl HP:0034276 rdfs:label Elevated circulating thymidine concentration Elevated circulating thymidine concentration NOT_TRANSLATED -en nl HP:0034276 IAO:0000115 Concentration of thymidine in the blood circulation above the normal range Concentration of thymidine in the blood circulation above the normal range NOT_TRANSLATED -en nl HP:0034277 rdfs:label Elevated circulating deoxyuridine concentration Elevated circulating deoxyuridine concentration NOT_TRANSLATED -en nl HP:0034277 IAO:0000115 Concentration of 2-deoxyuridine in the blood circulation is above the normal range Concentration of 2-deoxyuridine in the blood circulation is above the normal range NOT_TRANSLATED -en nl HP:0001510 rdfs:label Growth delay Vertraging van de groei CANDIDATE -en nl HP:0001510 IAO:0000115 A deficiency or slowing down of growth pre- and postnatally A deficiency or slowing down of growth pre- and postnatally NOT_TRANSLATED -en nl HP:0034278 rdfs:label Multinucleated erythroblast Multinucleated erythroblast NOT_TRANSLATED -en nl HP:0034278 IAO:0000115 Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis NOT_TRANSLATED -en nl HP:0001511 rdfs:label Intrauterine growth retardation Uteriene groeiretardatie CANDIDATE -en nl HP:0001511 IAO:0000115 An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age NOT_TRANSLATED -en nl HP:0034279 rdfs:label 2,8-dihydroxyadenine crystalluria 2,8-dihydroxyadenine crystalluria NOT_TRANSLATED -en nl HP:0034279 IAO:0000115 The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals NOT_TRANSLATED -en nl HP:0034280 rdfs:label Target cells Target cells NOT_TRANSLATED -en nl HP:0034280 IAO:0000115 Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target NOT_TRANSLATED -en nl HP:0001513 rdfs:label Obesity Obesitas CANDIDATE -en nl HP:0001513 IAO:0000115 Accumulation of substantial excess body fat Accumulation of substantial excess body fat NOT_TRANSLATED -en nl HP:0034281 rdfs:label Phalangeal cone-shaped epiphyses Phalangeal cone-shaped epiphyses NOT_TRANSLATED -en nl HP:0034281 IAO:0000115 Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery NOT_TRANSLATED -en nl HP:0034282 rdfs:label Subcutaneous ossification Subcutaneous ossification NOT_TRANSLATED -en nl HP:0034282 IAO:0000115 Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation NOT_TRANSLATED -en nl HP:0034283 rdfs:label Increased fecal protoporphyrin concentration Increased fecal protoporphyrin concentration NOT_TRANSLATED -en nl HP:0034283 IAO:0000115 Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces NOT_TRANSLATED -en nl HP:0034284 rdfs:label Recurrent gingivitis Recurrent gingivitis NOT_TRANSLATED -en nl HP:0034284 IAO:0000115 Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection NOT_TRANSLATED -en nl HP:0034285 rdfs:label Enteroviral encephalitis Enteroviral encephalitis NOT_TRANSLATED -en nl HP:0034285 IAO:0000115 Inflamation of the brain related to infection by an enterovirus Inflamation of the brain related to infection by an enterovirus NOT_TRANSLATED -en nl HP:0001518 rdfs:label Small for gestational age Klein voor zwangerschapsduur CANDIDATE -en nl HP:0001518 IAO:0000115 Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age NOT_TRANSLATED -en nl HP:0034286 rdfs:label Pneumocystis carinii pneumonia Pneumocystis carinii pneumonia NOT_TRANSLATED -en nl HP:0034286 IAO:0000115 Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations NOT_TRANSLATED -en nl HP:0001519 rdfs:label Disproportionate tall stature Disproportionele lange lengte CANDIDATE -en nl HP:0001519 IAO:0000115 A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim NOT_TRANSLATED -en nl HP:0034287 rdfs:label Afibrinogenemia Afibrinogenemia NOT_TRANSLATED -en nl HP:0034287 IAO:0000115 Lack of detectable fibrinogen in the blood circulation Lack of detectable fibrinogen in the blood circulation NOT_TRANSLATED -en nl HP:0001520 rdfs:label Large for gestational age Groot voor zwangerschapsduur CANDIDATE -en nl HP:0001520 IAO:0000115 The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age NOT_TRANSLATED -en nl HP:0034288 rdfs:label Elevated circulating reverse T3 concentration Elevated circulating reverse T3 concentration NOT_TRANSLATED -en nl HP:0034288 IAO:0000115 Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation NOT_TRANSLATED -en nl HP:0034289 rdfs:label Elevated circulating rT3/T3 ratio Elevated circulating rT3/T3 ratio NOT_TRANSLATED -en nl HP:0034289 IAO:0000115 An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation NOT_TRANSLATED -en nl HP:0001522 rdfs:label Death in infancy Overleden in zuigelingenperiode CANDIDATE -en nl HP:0001522 IAO:0000115 Death within the first 24 months of life Death within the first 24 months of life NOT_TRANSLATED -en nl HP:0034290 rdfs:label Elevated circulating tiglylglycine concentration Elevated circulating tiglylglycine concentration NOT_TRANSLATED -en nl HP:0034290 IAO:0000115 An increased concentration of tiglylglycine in the blood circulation An increased concentration of tiglylglycine in the blood circulation NOT_TRANSLATED -en nl HP:0034291 rdfs:label Elevated circulating creatine concentration Elevated circulating creatine concentration NOT_TRANSLATED -en nl HP:0034291 IAO:0000115 An elevation above the normal range of creatine in the blood circulation An elevation above the normal range of creatine in the blood circulation NOT_TRANSLATED -en nl HP:0034292 rdfs:label Reduced circulating creatine concentration Reduced circulating creatine concentration NOT_TRANSLATED -en nl HP:0034292 IAO:0000115 An reduction below the normal range of creatine in the blood circulation An reduction below the normal range of creatine in the blood circulation NOT_TRANSLATED -en nl HP:0001525 rdfs:label Severe failure to thrive Ernstige groeiachterstand CANDIDATE -en nl HP:0034293 rdfs:label Temporal lobe calcification Temporal lobe calcification NOT_TRANSLATED -en nl HP:0034293 IAO:0000115 The presence of calcium deposition within the temporal lobe of the brain The presence of calcium deposition within the temporal lobe of the brain NOT_TRANSLATED -en nl HP:0034294 rdfs:label Ductal bile plugs Ductal bile plugs NOT_TRANSLATED -en nl HP:0034294 IAO:0000115 Bile thrombi that form an obstruction (plug) in a dilated bile duct Bile thrombi that form an obstruction (plug) in a dilated bile duct NOT_TRANSLATED -en nl HP:0034295 rdfs:label Reduced cerebral white matter volume Reduced cerebral white matter volume NOT_TRANSLATED -en nl HP:0034295 IAO:0000115 An abnormally low volume of the white matter of the brain An abnormally low volume of the white matter of the brain NOT_TRANSLATED -en nl HP:0001528 rdfs:label Hemihypertrophy Hemihypertrofie CANDIDATE -en nl HP:0001528 IAO:0000115 Overgrowth of only one side of the body Overgrowth of only one side of the body NOT_TRANSLATED -en nl HP:0034296 rdfs:label Elevated urine 3,5,6-trichloro-2-pyridinol level Elevated urine 3,5,6-trichloro-2-pyridinol level NOT_TRANSLATED -en nl HP:0034296 IAO:0000115 Detection of 3,5,6-trichloro-2-pyridinol in the urine Detection of 3,5,6-trichloro-2-pyridinol in the urine NOT_TRANSLATED -en nl HP:0034297 rdfs:label Elevated circulating tetracosanoic acid concentration Elevated circulating tetracosanoic acid concentration NOT_TRANSLATED -en nl HP:0034297 IAO:0000115 Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation NOT_TRANSLATED -en nl HP:0001530 rdfs:label Mild postnatal growth retardation Milde postnatale groeiretardatie CANDIDATE -en nl HP:0001530 IAO:0000115 A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms NOT_TRANSLATED -en nl HP:0034298 rdfs:label Elevated circulating hexacosanoic acid concentration Elevated circulating hexacosanoic acid concentration NOT_TRANSLATED -en nl HP:0034298 IAO:0000115 Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation NOT_TRANSLATED -en nl HP:0001531 rdfs:label Failure to thrive in infancy Groeiachterstand in zuigelingenperiode CANDIDATE -en nl HP:0034299 rdfs:label Sertoli cell-only phenotype Sertoli cell-only phenotype NOT_TRANSLATED -en nl HP:0034299 IAO:0000115 A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis NOT_TRANSLATED -en nl HP:0034300 rdfs:label Decreased acid sphingomyelinase activity Decreased acid sphingomyelinase activity NOT_TRANSLATED -en nl HP:0034300 IAO:0000115 Reduced enzyme of acid sphingomyelinase activity in the blood circulation Reduced enzyme of acid sphingomyelinase activity in the blood circulation NOT_TRANSLATED -en nl HP:0001533 rdfs:label Slender build Slanke bouw CANDIDATE -en nl HP:0001533 IAO:0000115 Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones NOT_TRANSLATED -en nl HP:0034301 rdfs:label Congenital pouch colon Congenital pouch colon NOT_TRANSLATED -en nl HP:0034301 IAO:0000115 A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract NOT_TRANSLATED -en nl HP:0034302 rdfs:label Megalopapilla Megalopapilla NOT_TRANSLATED -en nl HP:0034302 IAO:0000115 A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects NOT_TRANSLATED -en nl HP:0034303 rdfs:label Notched T wave Notched T wave NOT_TRANSLATED -en nl HP:0034303 IAO:0000115 A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV NOT_TRANSLATED -en nl HP:0034304 rdfs:label Epsilon wave Epsilon wave NOT_TRANSLATED -en nl HP:0034304 IAO:0000115 An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave NOT_TRANSLATED -en nl HP:0001537 rdfs:label Umbilical hernia Navelbreuk CANDIDATE -en nl HP:0001537 IAO:0000115 Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect NOT_TRANSLATED -en nl HP:0034305 rdfs:label 2:1 atrioventricular block 2:1 atrioventricular block NOT_TRANSLATED -en nl HP:0034305 IAO:0000115 A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex NOT_TRANSLATED -en nl HP:0001538 rdfs:label Protuberant abdomen Uitpuilende buik CANDIDATE -en nl HP:0001538 IAO:0000115 A thrusting or bulging out of the abdomen A thrusting or bulging out of the abdomen NOT_TRANSLATED -en nl HP:0034306 rdfs:label Ventricular bigeminy Ventricular bigeminy NOT_TRANSLATED -en nl HP:0034306 IAO:0000115 An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat NOT_TRANSLATED -en nl HP:0001539 rdfs:label Omphalocele Omfalocèle CANDIDATE -en nl HP:0001539 IAO:0000115 A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord NOT_TRANSLATED -en nl HP:0034307 rdfs:label Elevated left ventricular end-diastolic diameter Elevated left ventricular end-diastolic diameter NOT_TRANSLATED -en nl HP:0034307 IAO:0000115 The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae NOT_TRANSLATED -en nl HP:0001540 rdfs:label Diastasis recti Rectus diastase CANDIDATE -en nl HP:0001540 IAO:0000115 A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba) A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba) NOT_TRANSLATED -en nl HP:0034308 rdfs:label Prolonged P wave Prolonged P wave NOT_TRANSLATED -en nl HP:0034308 IAO:0000115 Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction NOT_TRANSLATED -en nl HP:0001541 rdfs:label Ascites Ascites CANDIDATE -en nl HP:0001541 IAO:0000115 Accumulation of fluid in the peritoneal cavity Accumulation of fluid in the peritoneal cavity NOT_TRANSLATED -en nl HP:0034309 rdfs:label Multiflagellar spermatozoa Multiflagellar spermatozoa NOT_TRANSLATED -en nl HP:0034309 IAO:0000115 Spermatozoa with multiple flagella attached to the sperm head Spermatozoa with multiple flagella attached to the sperm head NOT_TRANSLATED -en nl HP:0034310 rdfs:label Post-vaccination yellow fever Post-vaccination yellow fever NOT_TRANSLATED -en nl HP:0034310 IAO:0000115 Infection with the yellow fever virus of the live-attenuated vaccine Infection with the yellow fever virus of the live-attenuated vaccine NOT_TRANSLATED -en nl HP:0001543 rdfs:label Gastroschisis Gastroschisis CANDIDATE -en nl HP:0001543 IAO:0000115 A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus NOT_TRANSLATED -en nl HP:0034311 rdfs:label Hypoplastic optic chiasm Hypoplastic optic chiasm NOT_TRANSLATED -en nl HP:0034311 IAO:0000115 Developmental defect characterized by undergrowth of the optic chiasm Developmental defect characterized by undergrowth of the optic chiasm NOT_TRANSLATED -en nl HP:0001544 rdfs:label Prominent umbilicus Prominente navel CANDIDATE -en nl HP:0001544 IAO:0000115 Abnormally prominent umbilicus (belly button) Abnormally prominent umbilicus (belly button) NOT_TRANSLATED -en nl HP:0034312 rdfs:label Nocturnal hypoxemia Nocturnal hypoxemia NOT_TRANSLATED -en nl HP:0034312 IAO:0000115 Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent NOT_TRANSLATED -en nl HP:0001545 rdfs:label Anteriorly placed anus Anterieur geplaatste anus CANDIDATE -en nl HP:0001545 IAO:0000115 Anterior malposition of the anus Anterior malposition of the anus NOT_TRANSLATED -en nl HP:0034313 rdfs:label Hyperdynamic left ventricular ejection fraction Hyperdynamic left ventricular ejection fraction NOT_TRANSLATED -en nl HP:0034313 IAO:0000115 An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent NOT_TRANSLATED -en nl HP:0034314 rdfs:label Abnormal left ventricular ejection fraction Abnormal left ventricular ejection fraction NOT_TRANSLATED -en nl HP:0034314 IAO:0000115 Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent NOT_TRANSLATED -en nl HP:0001547 rdfs:label Abnormal rib cage morphology Afwijking van de ribbenkast CANDIDATE -en nl HP:0001547 IAO:0000115 A morphological anomaly of the rib cage A morphological anomaly of the rib cage NOT_TRANSLATED -en nl HP:0034315 rdfs:label Chronic cough Chronic cough NOT_TRANSLATED -en nl HP:0034315 IAO:0000115 A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children NOT_TRANSLATED -en nl HP:0001548 rdfs:label Overgrowth Overmatige groei CANDIDATE -en nl HP:0001548 IAO:0000115 Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference NOT_TRANSLATED -en nl HP:0034316 rdfs:label Thinning of the substantia nigra pars compacta Thinning of the substantia nigra pars compacta NOT_TRANSLATED -en nl HP:0034316 IAO:0000115 Reduced volume of pars compacta of the substantia nigra Reduced volume of pars compacta of the substantia nigra NOT_TRANSLATED -en nl HP:0001549 rdfs:label Abnormal ileum morphology Afwijking van het ileum CANDIDATE -en nl HP:0034317 rdfs:label Unusual viral infection Unusual viral infection NOT_TRANSLATED -en nl HP:0034318 rdfs:label Unusual virus reactivation Unusual virus reactivation NOT_TRANSLATED -en nl HP:0034318 IAO:0000115 Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host NOT_TRANSLATED -en nl HP:0001551 rdfs:label Abnormal umbilicus morphology Afwijking van de navel CANDIDATE -en nl HP:0001551 IAO:0000115 An abnormality of the structure or appearance of the umbilicus An abnormality of the structure or appearance of the umbilicus NOT_TRANSLATED -en nl HP:0034319 rdfs:label CNS vasculitis with reactivation of varicella-zoster virus CNS vasculitis with reactivation of varicella-zoster virus NOT_TRANSLATED -en nl HP:0034319 IAO:0000115 A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries NOT_TRANSLATED -en nl HP:0001552 rdfs:label Barrel-shaped chest Vat-vormige borst CANDIDATE -en nl HP:0001552 IAO:0000115 A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis NOT_TRANSLATED -en nl HP:0034320 rdfs:label Muscle fiber intracytoplasmic reducing inclusion bodies Muscle fiber intracytoplasmic reducing inclusion bodies NOT_TRANSLATED -en nl HP:0034320 IAO:0000115 Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain NOT_TRANSLATED -en nl HP:0034321 rdfs:label Elevated circulating guanidinoacetic acid concentration Elevated circulating guanidinoacetic acid concentration NOT_TRANSLATED -en nl HP:0034321 IAO:0000115 An increased concentration of guanidinoacetic acid in the blood circulation An increased concentration of guanidinoacetic acid in the blood circulation NOT_TRANSLATED -en nl HP:0034322 rdfs:label Reduced galactocerebrosidase activity Reduced galactocerebrosidase activity NOT_TRANSLATED -en nl HP:0034322 IAO:0000115 Diminished enzyme activity of galactocerebrosidase Diminished enzyme activity of galactocerebrosidase NOT_TRANSLATED -en nl HP:0001555 rdfs:label Asymmetry of the thorax Asymmetrie van de thorax CANDIDATE -en nl HP:0001555 IAO:0000115 Lack of symmetry between the left and right halves of the thorax Lack of symmetry between the left and right halves of the thorax NOT_TRANSLATED -en nl HP:0034323 rdfs:label Reduced circulating growth hormone concentration Reduced circulating growth hormone concentration NOT_TRANSLATED -en nl HP:0034323 IAO:0000115 Concentration of growth hormone in the blood circulation below normal limits Concentration of growth hormone in the blood circulation below normal limits NOT_TRANSLATED -en nl HP:0034324 rdfs:label Brachiocephalic artery aneurysm Brachiocephalic artery aneurysm NOT_TRANSLATED -en nl HP:0034324 IAO:0000115 An abnormal widening (dilatation) of the brachiocephalic artery An abnormal widening (dilatation) of the brachiocephalic artery NOT_TRANSLATED -en nl HP:0001557 rdfs:label Prenatal movement abnormality Prenatale bewegingsabnormaliteit CANDIDATE -en nl HP:0001557 IAO:0000115 An abnormality of fetal movement An abnormality of fetal movement NOT_TRANSLATED -en nl HP:0034325 rdfs:label Common carotid artery aneurysm Common carotid artery aneurysm NOT_TRANSLATED -en nl HP:0034325 IAO:0000115 An abnormal widening (dilatation) of the common carotid artery An abnormal widening (dilatation) of the common carotid artery NOT_TRANSLATED -en nl HP:0001558 rdfs:label Decreased fetal movement Verminderde foetale beweging CANDIDATE -en nl HP:0001558 IAO:0000115 An abnormal reduction in quantity or strength of fetal movements An abnormal reduction in quantity or strength of fetal movements NOT_TRANSLATED -en nl HP:0034326 rdfs:label Adenomyosis Adenomyosis NOT_TRANSLATED -en nl HP:0034326 IAO:0000115 Ectopic endometrial tissue within the uterine myometrium Ectopic endometrial tissue within the uterine myometrium NOT_TRANSLATED -en nl HP:0034327 rdfs:label Posterior corneal stroma punctiform multicolored opacities Posterior corneal stroma punctiform multicolored opacities NOT_TRANSLATED -en nl HP:0034327 IAO:0000115 Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination NOT_TRANSLATED -en nl HP:0001560 rdfs:label Abnormality of the amniotic fluid Afwijking van het vruchtwater CANDIDATE -en nl HP:0001560 IAO:0000115 Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus NOT_TRANSLATED -en nl HP:0034328 rdfs:label Fibro-obliterative bile-duct lesion Fibro-obliterative bile-duct lesion NOT_TRANSLATED -en nl HP:0034328 IAO:0000115 A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar NOT_TRANSLATED -en nl HP:0001561 rdfs:label Polyhydramnios Polyhydramnion CANDIDATE -en nl HP:0001561 IAO:0000115 The presence of excess amniotic fluid in the uterus during pregnancy The presence of excess amniotic fluid in the uterus during pregnancy NOT_TRANSLATED -en nl HP:0034329 rdfs:label Dysplastic megalencephaly Dysplastic megalencephaly NOT_TRANSLATED -en nl HP:0034329 IAO:0000115 A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly NOT_TRANSLATED -en nl HP:0001562 rdfs:label Oligohydramnios Oligohydramnion CANDIDATE -en nl HP:0001562 IAO:0000115 Diminished amniotic fluid volume in pregnancy Diminished amniotic fluid volume in pregnancy NOT_TRANSLATED -en nl HP:0034330 rdfs:label Regional right ventricular hypokinesis Regional right ventricular hypokinesis NOT_TRANSLATED -en nl HP:0034330 IAO:0000115 Decreased range of right ventricular motion in a portion of the right ventricle of the heart Decreased range of right ventricular motion in a portion of the right ventricle of the heart NOT_TRANSLATED -en nl HP:0001563 rdfs:label Fetal polyuria Foetale polyurie CANDIDATE -en nl HP:0001563 IAO:0000115 Abnormally increased production of urine by the fetus resulting in polyhydramnios Abnormally increased production of urine by the fetus resulting in polyhydramnios NOT_TRANSLATED -en nl HP:0034331 rdfs:label McConnell sign McConnell sign NOT_TRANSLATED -en nl HP:0034331 IAO:0000115 Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle NOT_TRANSLATED -en nl HP:0034332 rdfs:label Cognitive regression Cognitive regression NOT_TRANSLATED -en nl HP:0034332 IAO:0000115 Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones NOT_TRANSLATED -en nl HP:0034333 rdfs:label Increased circulating hypoxanthine concentration Increased circulating hypoxanthine concentration NOT_TRANSLATED -en nl HP:0034333 IAO:0000115 Elevated concentration of hypoxanthine in the blood circulation Elevated concentration of hypoxanthine in the blood circulation NOT_TRANSLATED -en nl HP:0001566 rdfs:label Widely-spaced maxillary central incisors Wijd gespreide centrale bovensnijtanden CANDIDATE -en nl HP:0001566 IAO:0000115 Increased distance between the maxillary central permanent incisor tooth Increased distance between the maxillary central permanent incisor tooth NOT_TRANSLATED -en nl HP:0034335 rdfs:label Inheritance modifier Inheritance modifier NOT_TRANSLATED -en nl HP:0034335 IAO:0000115 The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed NOT_TRANSLATED -en nl HP:0034336 rdfs:label Splenic infarction Splenic infarction NOT_TRANSLATED -en nl HP:0034336 IAO:0000115 Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion NOT_TRANSLATED -en nl HP:0034337 rdfs:label Claw hand deformity Claw hand deformity NOT_TRANSLATED -en nl HP:0034337 IAO:0000115 An abormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw An abormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw NOT_TRANSLATED -en nl HP:0034338 rdfs:label Imprinted Imprinted NOT_TRANSLATED -en nl HP:0034338 IAO:0000115 Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated NOT_TRANSLATED -en nl HP:0001571 rdfs:label Multiple impacted teeth Multipele aangetaste tanden CANDIDATE -en nl HP:0001571 IAO:0000115 The presence of multiple impacted teeth The presence of multiple impacted teeth NOT_TRANSLATED -en nl HP:0034339 rdfs:label Pseudoautosomal inheritance Pseudoautosomal inheritance NOT_TRANSLATED -en nl HP:0034339 IAO:0000115 A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes NOT_TRANSLATED -en nl HP:0001572 rdfs:label Macrodontia Macrodontie CANDIDATE -en nl HP:0001572 IAO:0000115 Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth NOT_TRANSLATED -en nl HP:0034340 rdfs:label Pseudoautosomal dominant inheritance Pseudoautosomal dominant inheritance NOT_TRANSLATED -en nl HP:0034340 IAO:0000115 A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype NOT_TRANSLATED -en nl HP:0034341 rdfs:label Pseudoautosomal recessive inheritance Pseudoautosomal recessive inheritance NOT_TRANSLATED -en nl HP:0034341 IAO:0000115 A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype NOT_TRANSLATED -en nl HP:0001574 rdfs:label Abnormality of the integument Afwijking van de huid CANDIDATE -en nl HP:0001574 IAO:0000115 An abnormality of the integument, which consists of the skin and the superficial fascia An abnormality of the integument, which consists of the skin and the superficial fascia NOT_TRANSLATED -en nl HP:0034342 rdfs:label Trapezius muscle aplasia Trapezius muscle aplasia NOT_TRANSLATED -en nl HP:0034342 IAO:0000115 A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax) A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax) NOT_TRANSLATED -en nl HP:0034343 rdfs:label Requires heterozygosity Requires heterozygosity NOT_TRANSLATED -en nl HP:0034343 IAO:0000115 A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females NOT_TRANSLATED -en nl HP:0034344 rdfs:label Female-limited expression Female-limited expression NOT_TRANSLATED -en nl HP:0034344 IAO:0000115 Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex NOT_TRANSLATED -en nl HP:0034345 rdfs:label Mendelian inheritance Mendelian inheritance NOT_TRANSLATED -en nl HP:0034345 IAO:0000115 A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel NOT_TRANSLATED -en nl HP:0034346 rdfs:label Nesidioblastosis Nesidioblastosis NOT_TRANSLATED -en nl HP:0034346 IAO:0000115 An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed NOT_TRANSLATED -en nl HP:0001579 rdfs:label Primary hypercortisolism Primair hypercorticolisme CANDIDATE -en nl HP:0001579 IAO:0000115 Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol NOT_TRANSLATED -en nl HP:0034347 rdfs:label Greater auricular nerve thickening Greater auricular nerve thickening NOT_TRANSLATED -en nl HP:0034347 IAO:0000115 Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region NOT_TRANSLATED -en nl HP:0001580 rdfs:label Pigmented micronodular adrenocortical disease Gepigmenteerde micronodulaire adrenocorticale ziekte CANDIDATE -en nl HP:0034348 rdfs:label Subpulmonary stenosis Subpulmonary stenosis NOT_TRANSLATED -en nl HP:0034348 IAO:0000115 A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve NOT_TRANSLATED -en nl HP:0001581 rdfs:label Recurrent skin infections Recidiverende huidinfecties CANDIDATE -en nl HP:0001581 IAO:0000115 Infections of the skin that happen multiple times Infections of the skin that happen multiple times NOT_TRANSLATED -en nl HP:0034349 rdfs:label Supravalvar pulmonary stenosis Supravalvar pulmonary stenosis NOT_TRANSLATED -en nl HP:0034349 IAO:0000115 A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve NOT_TRANSLATED -en nl HP:0001582 rdfs:label Redundant skin Overtollige huid CANDIDATE -en nl HP:0001582 IAO:0000115 Loose and sagging skin often associated with loss of skin elasticity Loose and sagging skin often associated with loss of skin elasticity NOT_TRANSLATED -en nl HP:0034350 rdfs:label Valvular pulmonary stenosis Valvular pulmonary stenosis NOT_TRANSLATED -en nl HP:0034350 IAO:0000115 A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve NOT_TRANSLATED -en nl HP:0001583 rdfs:label Rotary nystagmus Roterende nystagmus CANDIDATE -en nl HP:0001583 IAO:0000115 A form of nystagmus in which the eyeball makes rotary motions around the axis A form of nystagmus in which the eyeball makes rotary motions around the axis NOT_TRANSLATED -en nl HP:0034351 rdfs:label Neuromyotonia Neuromyotonia NOT_TRANSLATED -en nl HP:0034351 IAO:0000115 Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness NOT_TRANSLATED -en nl HP:0034352 rdfs:label Bile duct polyp Bile duct polyp NOT_TRANSLATED -en nl HP:0034352 IAO:0000115 An elevated growth from the the mucosa of the bile duct An elevated growth from the the mucosa of the bile duct NOT_TRANSLATED -en nl HP:0034353 rdfs:label Appendicular spasticity Appendicular spasticity NOT_TRANSLATED -en nl HP:0034353 IAO:0000115 A type of spasticity that affects one or more limbs (arms or legs) A type of spasticity that affects one or more limbs (arms or legs) NOT_TRANSLATED -en nl HP:0001586 rdfs:label Vesicovaginal fistula Vesicovaginale fistel CANDIDATE -en nl HP:0001586 IAO:0000115 The presence of a fistula connecting the urinary bladder to the vagina The presence of a fistula connecting the urinary bladder to the vagina NOT_TRANSLATED -en nl HP:0034354 rdfs:label Trichoschisis Trichoschisis NOT_TRANSLATED -en nl HP:0034354 IAO:0000115 Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft NOT_TRANSLATED -en nl HP:0034355 rdfs:label White cerebellum sign White cerebellum sign NOT_TRANSLATED -en nl HP:0034355 IAO:0000115 On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis NOT_TRANSLATED -en nl HP:0034356 rdfs:label Impaired renal tubular reabsorption of low molecular weight protein Impaired renal tubular reabsorption of low molecular weight protein NOT_TRANSLATED -en nl HP:0034356 IAO:0000115 Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption NOT_TRANSLATED -en nl HP:0034357 rdfs:label Impaired renal tubular reabsorption of glucose Impaired renal tubular reabsorption of glucose NOT_TRANSLATED -en nl HP:0034357 IAO:0000115 Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption NOT_TRANSLATED -en nl HP:0034358 rdfs:label Impaired renal tubular reabsorption of sodium Impaired renal tubular reabsorption of sodium NOT_TRANSLATED -en nl HP:0034358 IAO:0000115 Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption NOT_TRANSLATED -en nl HP:0001591 rdfs:label Bell-shaped thorax Klokvormige thorax CANDIDATE -en nl HP:0001591 IAO:0000115 The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter NOT_TRANSLATED -en nl HP:0034359 rdfs:label Impaired renal tubular reabsorption of phosphate Impaired renal tubular reabsorption of phosphate NOT_TRANSLATED -en nl HP:0034359 IAO:0000115 Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption NOT_TRANSLATED -en nl HP:0001592 rdfs:label Selective tooth agenesis Selectieve tandagenesie CANDIDATE -en nl HP:0001592 IAO:0000115 Agenesis specifically affecting one of the classes incisor, premolar, or molar Agenesis specifically affecting one of the classes incisor, premolar, or molar NOT_TRANSLATED -en nl HP:0034360 rdfs:label Action myoclonus Action myoclonus NOT_TRANSLATED -en nl HP:0034360 IAO:0000115 A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli NOT_TRANSLATED -en nl HP:0001593 rdfs:label Maxillary lateral incisor microdontia Maxillaire laterale snijtandmicrodontie CANDIDATE -en nl HP:0001593 IAO:0000115 Decreased size of the maxillary permanent incisor Decreased size of the maxillary permanent incisor NOT_TRANSLATED -en nl HP:0034361 rdfs:label Redundant umbilical skin Redundant umbilical skin NOT_TRANSLATED -en nl HP:0034361 IAO:0000115 Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen NOT_TRANSLATED -en nl HP:0034362 rdfs:label Dull foveal reflex Dull foveal reflex NOT_TRANSLATED -en nl HP:0034362 IAO:0000115 Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope NOT_TRANSLATED -en nl HP:0001595 rdfs:label Abnormal hair morphology Afwijking van het haar CANDIDATE -en nl HP:0001595 IAO:0000115 An abnormality of the hair An abnormality of the hair NOT_TRANSLATED -en nl HP:0034363 rdfs:label Corneal pterygium Corneal pterygium NOT_TRANSLATED -en nl HP:0034363 IAO:0000115 Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea NOT_TRANSLATED -en nl HP:0001596 rdfs:label Alopecia Alopecia CANDIDATE -en nl HP:0001596 IAO:0000115 A noncongenital process of hair loss, which may progress to partial or complete baldness A noncongenital process of hair loss, which may progress to partial or complete baldness NOT_TRANSLATED -en nl HP:0034364 rdfs:label Fibrofatty replacement of right ventricular myocardium Fibrofatty replacement of right ventricular myocardium NOT_TRANSLATED -en nl HP:0034364 IAO:0000115 Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue NOT_TRANSLATED -en nl HP:0001597 rdfs:label Abnormality of the nail Afwijking van de nagel CANDIDATE -en nl HP:0001597 IAO:0000115 Abnormality of the nail Abnormality of the nail NOT_TRANSLATED -en nl HP:0034365 rdfs:label Elevated circulating alpha-aminoadipic semialdehyde concentration Elevated circulating alpha-aminoadipic semialdehyde concentration NOT_TRANSLATED -en nl HP:0034365 IAO:0000115 Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation NOT_TRANSLATED -en nl HP:0001598 rdfs:label Concave nail Concave nagel CANDIDATE -en nl HP:0001598 IAO:0000115 The natural longitudinal (posterodistal) convex arch is not present or is inverted The natural longitudinal (posterodistal) convex arch is not present or is inverted NOT_TRANSLATED -en nl HP:0034366 rdfs:label Fracture blister Fracture blister NOT_TRANSLATED -en nl HP:0034366 IAO:0000115 Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn NOT_TRANSLATED -en nl HP:0034367 rdfs:label Decreased beta-mannosidase activity Decreased beta-mannosidase activity NOT_TRANSLATED -en nl HP:0034367 IAO:0000115 Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides NOT_TRANSLATED -en nl HP:0001600 rdfs:label Abnormality of the larynx Afwijking van het strottenhoofd CANDIDATE -en nl HP:0001600 IAO:0000115 An abnormality of the larynx An abnormality of the larynx NOT_TRANSLATED -en nl HP:0034368 rdfs:label Urolithiasis Urolithiasis NOT_TRANSLATED -en nl HP:0034368 IAO:0000115 Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra NOT_TRANSLATED -en nl HP:0001601 rdfs:label Laryngomalacia Laryngomalacie CANDIDATE -en nl HP:0001601 IAO:0000115 Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration NOT_TRANSLATED -en nl HP:0034369 rdfs:label Decreased level of coenzyme Q10 in skeletal muscle Decreased level of coenzyme Q10 in skeletal muscle NOT_TRANSLATED -en nl HP:0034369 IAO:0000115 Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue NOT_TRANSLATED -en nl HP:0001602 rdfs:label Laryngeal stenosis Laryngeale stenose CANDIDATE -en nl HP:0001602 IAO:0000115 Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing NOT_TRANSLATED -en nl HP:0034370 rdfs:label Abnormal muscle tissue metabolite concentration Abnormal muscle tissue metabolite concentration NOT_TRANSLATED -en nl HP:0034371 rdfs:label Reduced circulating prekallikrein concentration Reduced circulating prekallikrein concentration NOT_TRANSLATED -en nl HP:0034371 IAO:0000115 Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII NOT_TRANSLATED -en nl HP:0001604 rdfs:label Vocal cord paresis Stembandverlamming CANDIDATE -en nl HP:0001604 IAO:0000115 Decreased strength of the vocal folds Decreased strength of the vocal folds NOT_TRANSLATED -en nl HP:0034372 rdfs:label Internal tibial torsion Internal tibial torsion NOT_TRANSLATED -en nl HP:0001605 rdfs:label Vocal cord paralysis Stembandverlamming CANDIDATE -en nl HP:0001605 IAO:0000115 A loss of the ability to move the vocal folds A loss of the ability to move the vocal folds NOT_TRANSLATED -en nl HP:0034373 rdfs:label External tibial torsion External tibial torsion NOT_TRANSLATED -en nl HP:0034373 IAO:0000115 External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) NOT_TRANSLATED -en nl HP:0034374 rdfs:label Trident acetabulum Trident acetabulum NOT_TRANSLATED -en nl HP:0034374 IAO:0000115 Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident NOT_TRANSLATED -en nl HP:0001607 rdfs:label Subglottic stenosis Subglottische stenose CANDIDATE -en nl HP:0034375 rdfs:label Spherophakia Spherophakia NOT_TRANSLATED -en nl HP:0034375 IAO:0000115 Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical NOT_TRANSLATED -en nl HP:0001608 rdfs:label Abnormality of the voice Afwijking van de stem CANDIDATE -en nl HP:0034376 rdfs:label Atrioventricular valve regurgitation Atrioventricular valve regurgitation NOT_TRANSLATED -en nl HP:0034376 IAO:0000115 Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve NOT_TRANSLATED -en nl HP:0001609 rdfs:label Hoarse voice Hese stem CANDIDATE -en nl HP:0001609 IAO:0000115 Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky NOT_TRANSLATED -en nl HP:0034377 rdfs:label Single atrioventricular valve regurgitation Single atrioventricular valve regurgitation NOT_TRANSLATED -en nl HP:0034377 IAO:0000115 Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR NOT_TRANSLATED -en nl HP:0034378 rdfs:label Urethrovesical occlusion Urethrovesical occlusion NOT_TRANSLATED -en nl HP:0034378 IAO:0000115 Blockage of the flow of urine from the bladder into the urethra Blockage of the flow of urine from the bladder into the urethra NOT_TRANSLATED -en nl HP:0001611 rdfs:label Nasal speech Nasale spraak CANDIDATE -en nl HP:0001611 IAO:0000115 A type of speech characterized by the presence of an abnormally increased nasal airflow during speech A type of speech characterized by the presence of an abnormally increased nasal airflow during speech NOT_TRANSLATED -en nl HP:0034379 rdfs:label Vascular granular osmiophilic material deposition Vascular granular osmiophilic material deposition NOT_TRANSLATED -en nl HP:0034379 IAO:0000115 Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide NOT_TRANSLATED -en nl HP:0001612 rdfs:label Weak cry Zwakke huil/schreeuw CANDIDATE -en nl HP:0034380 rdfs:label Juvenile type testicular granulosa cell tumor Juvenile type testicular granulosa cell tumor NOT_TRANSLATED -en nl HP:0034380 IAO:0000115 Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia NOT_TRANSLATED -en nl HP:0034381 rdfs:label Central nervous system axonal spheroid Central nervous system axonal spheroid NOT_TRANSLATED -en nl HP:0034381 IAO:0000115 Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements NOT_TRANSLATED -en nl HP:0034382 rdfs:label Disease remission Disease remission NOT_TRANSLATED -en nl HP:0034382 IAO:0000115 A decrease in or disappearance of signs and symptoms typically associated with a disease course A decrease in or disappearance of signs and symptoms typically associated with a disease course NOT_TRANSLATED -en nl HP:0001615 rdfs:label Hoarse cry Hese schreeuw CANDIDATE -en nl HP:0034383 rdfs:label Elevated circulating biliverdin concentration Elevated circulating biliverdin concentration NOT_TRANSLATED -en nl HP:0034383 IAO:0000115 Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation NOT_TRANSLATED -en nl HP:0034384 rdfs:label Elevated circulating insulin:C-peptide ratio Elevated circulating insulin:C-peptide ratio NOT_TRANSLATED -en nl HP:0034384 IAO:0000115 Increased ratio of insulin to C-peptide in the blood circulation Increased ratio of insulin to C-peptide in the blood circulation NOT_TRANSLATED -en nl HP:0034385 rdfs:label Abnormal left ventricular endsystolic diameter Abnormal left ventricular endsystolic diameter NOT_TRANSLATED -en nl HP:0034385 IAO:0000115 A deviation from the normal range of the left ventricular endsystolic diameter A deviation from the normal range of the left ventricular endsystolic diameter NOT_TRANSLATED -en nl HP:0001618 rdfs:label Dysphonia Dysfonie CANDIDATE -en nl HP:0001618 IAO:0000115 An impairment in the ability to produce voice sounds An impairment in the ability to produce voice sounds NOT_TRANSLATED -en nl HP:0034386 rdfs:label Reduced left ventricular endsystolic diameter Reduced left ventricular endsystolic diameter NOT_TRANSLATED -en nl HP:0034386 IAO:0000115 A lower than normal left ventricular endsystolic diameter A lower than normal left ventricular endsystolic diameter NOT_TRANSLATED -en nl HP:0034387 rdfs:label Bacterial encephalitis Bacterial encephalitis NOT_TRANSLATED -en nl HP:0034387 IAO:0000115 Encephalitis caused by bacterial infection Encephalitis caused by bacterial infection NOT_TRANSLATED -en nl HP:0001620 rdfs:label High pitched voice Hoge stem CANDIDATE -en nl HP:0001620 IAO:0000115 An abnormal increase in the pitch (frequency) of the voice An abnormal increase in the pitch (frequency) of the voice NOT_TRANSLATED -en nl HP:0034388 rdfs:label Hilar lymph node enlargement Hilar lymph node enlargement NOT_TRANSLATED -en nl HP:0034388 IAO:0000115 Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) NOT_TRANSLATED -en nl HP:0001621 rdfs:label Weak voice Zwakke stem CANDIDATE -en nl HP:0001621 IAO:0000115 Reduced intensity (volume) of speech Reduced intensity (volume) of speech NOT_TRANSLATED -en nl HP:0034389 rdfs:label Pulmonary vein varix Pulmonary vein varix NOT_TRANSLATED -en nl HP:0034389 IAO:0000115 Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent NOT_TRANSLATED -en nl HP:0001622 rdfs:label Premature birth Vroeggeboorte CANDIDATE -en nl HP:0001622 IAO:0000115 The birth of a baby of less than 37 weeks of gestational age The birth of a baby of less than 37 weeks of gestational age NOT_TRANSLATED -en nl HP:0034390 rdfs:label Decreased CSF glycine concentration Decreased CSF glycine concentration NOT_TRANSLATED -en nl HP:0034390 IAO:0000115 Abnormally decreased levels of glycine in cerebrospinal fluid Abnormally decreased levels of glycine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0001623 rdfs:label Breech presentation Stuitligging CANDIDATE -en nl HP:0001623 IAO:0000115 A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first NOT_TRANSLATED -en nl HP:0034391 rdfs:label Elbow contracture Elbow contracture NOT_TRANSLATED -en nl HP:0034391 IAO:0000115 A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin NOT_TRANSLATED -en nl HP:0034392 rdfs:label Joint contracture Joint contracture NOT_TRANSLATED -en nl HP:0034392 IAO:0000115 A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part NOT_TRANSLATED -en nl HP:0034393 rdfs:label Elbow extension contracture Elbow extension contracture NOT_TRANSLATED -en nl HP:0034393 IAO:0000115 An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position NOT_TRANSLATED -en nl HP:0001626 rdfs:label Abnormality of the cardiovascular system Afwijking van het cardiovasculair systeem CANDIDATE -en nl HP:0001626 IAO:0000115 Any abnormality of the cardiovascular system Any abnormality of the cardiovascular system NOT_TRANSLATED -en nl HP:0034394 rdfs:label Forearm supination contracture Forearm supination contracture NOT_TRANSLATED -en nl HP:0034394 IAO:0000115 A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between NOT_TRANSLATED -en nl HP:0001627 rdfs:label Abnormal heart morphology Abnormale hartmorfologie CANDIDATE -en nl HP:0001627 IAO:0000115 Any structural anomaly of the heart Any structural anomaly of the heart NOT_TRANSLATED -en nl HP:0034395 rdfs:label Forearm pronation contracture Forearm pronation contracture NOT_TRANSLATED -en nl HP:0034395 IAO:0000115 A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between NOT_TRANSLATED -en nl HP:0034396 rdfs:label Hippocampal malrotation Hippocampal malrotation NOT_TRANSLATED -en nl HP:0034396 IAO:0000115 Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus NOT_TRANSLATED -en nl HP:0001629 rdfs:label Ventricular septal defect Ventrikelseptumdefect (VSD) CANDIDATE -en nl HP:0001629 IAO:0000115 A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum NOT_TRANSLATED -en nl HP:0034397 rdfs:label Claw toe deformity Claw toe deformity NOT_TRANSLATED -en nl HP:0034397 IAO:0000115 Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints NOT_TRANSLATED -en nl HP:0034398 rdfs:label Toe deformity Toe deformity NOT_TRANSLATED -en nl HP:0034398 IAO:0000115 Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes NOT_TRANSLATED -en nl HP:0001631 rdfs:label Atrial septal defect Atriumseptumdefect (ASD) CANDIDATE -en nl HP:0001631 IAO:0000115 Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum NOT_TRANSLATED -en nl HP:0034399 rdfs:label Prolonged central motor conduction time Prolonged central motor conduction time NOT_TRANSLATED -en nl HP:0034399 IAO:0000115 Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation NOT_TRANSLATED -en nl HP:0034400 rdfs:label Circumferential skin creases on extremities Circumferential skin creases on extremities NOT_TRANSLATED -en nl HP:0034400 IAO:0000115 Ringed creases of the skin of the extremities related to folding of excess skin Ringed creases of the skin of the extremities related to folding of excess skin NOT_TRANSLATED -en nl HP:0001633 rdfs:label Abnormal mitral valve morphology Afwijking van de mitralisklep CANDIDATE -en nl HP:0001633 IAO:0000115 Any structural anomaly of the mitral valve Any structural anomaly of the mitral valve NOT_TRANSLATED -en nl HP:0034401 rdfs:label Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumor NOT_TRANSLATED -en nl HP:0034401 IAO:0000115 An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia NOT_TRANSLATED -en nl HP:0001634 rdfs:label Mitral valve prolapse Mitralisklepprolaps CANDIDATE -en nl HP:0001634 IAO:0000115 One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle NOT_TRANSLATED -en nl HP:0034402 rdfs:label Rhabdoid tumor of the kidney Rhabdoid tumor of the kidney NOT_TRANSLATED -en nl HP:0034402 IAO:0000115 A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm NOT_TRANSLATED -en nl HP:0001635 rdfs:label Congestive heart failure Congestieve hartfalen CANDIDATE -en nl HP:0001635 IAO:0000115 The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction NOT_TRANSLATED -en nl HP:0034403 rdfs:label Subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma NOT_TRANSLATED -en nl HP:0034403 IAO:0000115 A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules NOT_TRANSLATED -en nl HP:0001636 rdfs:label Tetralogy of Fallot Tetralogie van Fallot CANDIDATE -en nl HP:0001636 IAO:0000115 A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present NOT_TRANSLATED -en nl HP:0034404 rdfs:label Fungal hyphae in sputum Fungal hyphae in sputum NOT_TRANSLATED -en nl HP:0034404 IAO:0000115 Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum NOT_TRANSLATED -en nl HP:0001637 rdfs:label Abnormal myocardium morphology Afwijking van het myocardium CANDIDATE -en nl HP:0001637 IAO:0000115 A structural anomaly of the muscle layer of the heart wall A structural anomaly of the muscle layer of the heart wall NOT_TRANSLATED -en nl HP:0034405 rdfs:label Enlarged tectum Enlarged tectum NOT_TRANSLATED -en nl HP:0034405 IAO:0000115 Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem NOT_TRANSLATED -en nl HP:0001638 rdfs:label Cardiomyopathy Cardiomyopathie CANDIDATE -en nl HP:0001638 IAO:0000115 A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality NOT_TRANSLATED -en nl HP:0034406 rdfs:label Elevated CSF angiotensin-converting enzyme concentration Elevated CSF angiotensin-converting enzyme concentration NOT_TRANSLATED -en nl HP:0001639 rdfs:label Hypertrophic cardiomyopathy Hypertrofische cardiomyopathie CANDIDATE -en nl HP:0001639 IAO:0000115 Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality NOT_TRANSLATED -en nl HP:0034407 rdfs:label Reduced circulating 3-ketoacyl-CoA thiolase concentration Reduced circulating 3-ketoacyl-CoA thiolase concentration NOT_TRANSLATED -en nl HP:0034407 IAO:0000115 Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation NOT_TRANSLATED -en nl HP:0001640 rdfs:label Cardiomegaly Cardiomegalie CANDIDATE -en nl HP:0001640 IAO:0000115 Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography NOT_TRANSLATED -en nl HP:0034408 rdfs:label Solitary angiokeratoma Solitary angiokeratoma NOT_TRANSLATED -en nl HP:0034408 IAO:0000115 A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage NOT_TRANSLATED -en nl HP:0001641 rdfs:label Abnormal pulmonary valve morphology Afwijking van de pulmonale klep CANDIDATE -en nl HP:0001641 IAO:0000115 Any structural abnormality of the pulmonary valve Any structural abnormality of the pulmonary valve NOT_TRANSLATED -en nl HP:0034409 rdfs:label Fordyce angiokeratoma Fordyce angiokeratoma NOT_TRANSLATED -en nl HP:0034409 IAO:0000115 A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis NOT_TRANSLATED -en nl HP:0001642 rdfs:label Pulmonic stenosis Pulmonische stenose CANDIDATE -en nl HP:0001642 IAO:0000115 A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis) A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis) NOT_TRANSLATED -en nl HP:0034410 rdfs:label Angiokeratoma circumscriptum naeviforme Angiokeratoma circumscriptum naeviforme NOT_TRANSLATED -en nl HP:0034410 IAO:0000115 A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface NOT_TRANSLATED -en nl HP:0001643 rdfs:label Patent ductus arteriosus Patent ductus arteriosus CANDIDATE -en nl HP:0001643 IAO:0000115 In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences NOT_TRANSLATED -en nl HP:0034411 rdfs:label Angiokeratoma of Mibelli Angiokeratoma of Mibelli NOT_TRANSLATED -en nl HP:0034411 IAO:0000115 A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter NOT_TRANSLATED -en nl HP:0001644 rdfs:label Dilated cardiomyopathy Verwijde cardiomyopathie CANDIDATE -en nl HP:0001644 IAO:0000115 Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis NOT_TRANSLATED -en nl HP:0034412 rdfs:label Laryngeal mass Laryngeal mass NOT_TRANSLATED -en nl HP:0034412 IAO:0000115 A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography NOT_TRANSLATED -en nl HP:0001645 rdfs:label Sudden cardiac death Plotselinge hartdood CANDIDATE -en nl HP:0001645 IAO:0000115 The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset) The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset) NOT_TRANSLATED -en nl HP:0034413 rdfs:label Palate mass Palate mass NOT_TRANSLATED -en nl HP:0034413 IAO:0000115 A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup NOT_TRANSLATED -en nl HP:0001646 rdfs:label Abnormal aortic valve morphology Afwijking van de aortaklep CANDIDATE -en nl HP:0001646 IAO:0000115 Any abnormality of the aortic valve Any abnormality of the aortic valve NOT_TRANSLATED -en nl HP:0034414 rdfs:label Thick oral frenulum Thick oral frenulum NOT_TRANSLATED -en nl HP:0034414 IAO:0000115 Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip NOT_TRANSLATED -en nl HP:0001647 rdfs:label Bicuspid aortic valve Bicuspidale aortaklep CANDIDATE -en nl HP:0001647 IAO:0000115 The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps) The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps) NOT_TRANSLATED -en nl HP:0034415 rdfs:label Tooth avulsion Tooth avulsion NOT_TRANSLATED -en nl HP:0034415 IAO:0000115 A type of dental trauma characterized by total dislocation of the tooth from its socket A type of dental trauma characterized by total dislocation of the tooth from its socket NOT_TRANSLATED -en nl HP:0001648 rdfs:label Cor pulmonale Long-hart CANDIDATE -en nl HP:0001648 IAO:0000115 Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle NOT_TRANSLATED -en nl HP:0034416 rdfs:label Torn oral frenulum Torn oral frenulum NOT_TRANSLATED -en nl HP:0034416 IAO:0000115 Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip NOT_TRANSLATED -en nl HP:0001649 rdfs:label Tachycardia Tachycardie CANDIDATE -en nl HP:0001649 IAO:0000115 A rapid heartrate that exceeds the range of the normal resting heartrate for age A rapid heartrate that exceeds the range of the normal resting heartrate for age NOT_TRANSLATED -en nl HP:0034417 rdfs:label Intraoral laceration Intraoral laceration NOT_TRANSLATED -en nl HP:0034417 IAO:0000115 A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx NOT_TRANSLATED -en nl HP:0001650 rdfs:label Aortic valve stenosis Aortaklepstenose CANDIDATE -en nl HP:0001650 IAO:0000115 The presence of a stenosis (narrowing) of the aortic valve The presence of a stenosis (narrowing) of the aortic valve NOT_TRANSLATED -en nl HP:0034418 rdfs:label Erythematous oral mucosa Erythematous oral mucosa NOT_TRANSLATED -en nl HP:0034418 IAO:0000115 An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium NOT_TRANSLATED -en nl HP:0001651 rdfs:label Dextrocardia Dextrocardie CANDIDATE -en nl HP:0001651 IAO:0000115 "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or ""mirror reflection"") of the anatomical location of the heart in which the heart is locate on the right side instead of the left" "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or ""mirror reflection"") of the anatomical location of the heart in which the heart is locate on the right side instead of the left" NOT_TRANSLATED -en nl HP:0034419 rdfs:label Mitral chordae tendinae rupture Mitral chordae tendinae rupture NOT_TRANSLATED -en nl HP:0034419 IAO:0000115 Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation NOT_TRANSLATED -en nl HP:0034420 rdfs:label History of cardiovascular procedure History of cardiovascular procedure NOT_TRANSLATED -en nl HP:0034420 IAO:0000115 Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient NOT_TRANSLATED -en nl HP:0001653 rdfs:label Mitral regurgitation Mitralisklep regurgitatie CANDIDATE -en nl HP:0001653 IAO:0000115 An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction NOT_TRANSLATED -en nl HP:0034421 rdfs:label Ejection click Ejection click NOT_TRANSLATED -en nl HP:0034421 IAO:0000115 A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds NOT_TRANSLATED -en nl HP:0001654 rdfs:label Abnormal heart valve morphology Afwijking van de hartkleppen CANDIDATE -en nl HP:0001654 IAO:0000115 Any structural abnormality of a cardiac valve Any structural abnormality of a cardiac valve NOT_TRANSLATED -en nl HP:0034422 rdfs:label Cryofibrinogenemia Cryofibrinogenemia NOT_TRANSLATED -en nl HP:0034422 IAO:0000115 Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin NOT_TRANSLATED -en nl HP:0001655 rdfs:label Patent foramen ovale Patent foramen ovale CANDIDATE -en nl HP:0001655 IAO:0000115 Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria NOT_TRANSLATED -en nl HP:0034423 rdfs:label triggered by allergens triggered by allergens NOT_TRANSLATED -en nl HP:0034423 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to allergens Applies to a sign or symptom that is provoked or brought about by exposure to allergens NOT_TRANSLATED -en nl HP:0034424 rdfs:label Clicking tinnitus Clicking tinnitus NOT_TRANSLATED -en nl HP:0034424 IAO:0000115 A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers NOT_TRANSLATED -en nl HP:0001657 rdfs:label Prolonged QT interval Verlengd QT-interval CANDIDATE -en nl HP:0001657 IAO:0000115 Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) NOT_TRANSLATED -en nl HP:0034425 rdfs:label Reduced hair sulfur content Reduced hair sulfur content NOT_TRANSLATED -en nl HP:0034425 IAO:0000115 Abnormally low amount of sulfur in hair Abnormally low amount of sulfur in hair NOT_TRANSLATED -en nl HP:0001658 rdfs:label Myocardial infarction Myocardinfarct CANDIDATE -en nl HP:0001658 IAO:0000115 Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin NOT_TRANSLATED -en nl HP:0034426 rdfs:label Chromhidrosis Chromhidrosis NOT_TRANSLATED -en nl HP:0034426 IAO:0000115 Secretion of colored sweat Secretion of colored sweat NOT_TRANSLATED -en nl HP:0001659 rdfs:label Aortic regurgitation Aorta-insufficiëntie CANDIDATE -en nl HP:0001659 IAO:0000115 An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle NOT_TRANSLATED -en nl HP:0034427 rdfs:label Purulent eye discharge Purulent eye discharge NOT_TRANSLATED -en nl HP:0034427 IAO:0000115 Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together NOT_TRANSLATED -en nl HP:0001660 rdfs:label Truncus arteriosus Truncus arteriosus CANDIDATE -en nl HP:0001660 IAO:0000115 A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract NOT_TRANSLATED -en nl HP:0034428 rdfs:label Megaloblepharon Megaloblepharon NOT_TRANSLATED -en nl HP:0034428 IAO:0000115 Disproportionately large eyelids Disproportionately large eyelids NOT_TRANSLATED -en nl HP:0034429 rdfs:label Bacteria in cerebrospinal fluid Bacteria in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0034429 IAO:0000115 Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results NOT_TRANSLATED -en nl HP:0001662 rdfs:label Bradycardia Bradycardie CANDIDATE -en nl HP:0001662 IAO:0000115 A slower than normal heart rate (in adults, slower than 60 beats per minute) A slower than normal heart rate (in adults, slower than 60 beats per minute) NOT_TRANSLATED -en nl HP:0034430 rdfs:label Abnormal joint physiology Abnormal joint physiology NOT_TRANSLATED -en nl HP:0001663 rdfs:label Ventricular fibrillation Ventriculaire fibrillatie CANDIDATE -en nl HP:0001663 IAO:0000115 Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations NOT_TRANSLATED -en nl HP:0034431 rdfs:label Joint crepitus Joint crepitus NOT_TRANSLATED -en nl HP:0034431 IAO:0000115 A popping, clicking or crackling sound that accompaniees movement of a joint A popping, clicking or crackling sound that accompaniees movement of a joint NOT_TRANSLATED -en nl HP:0001664 rdfs:label Torsade de pointes Torsade de pointes CANDIDATE -en nl HP:0001664 IAO:0000115 A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG NOT_TRANSLATED -en nl HP:0034432 rdfs:label Intertriginous distribution Intertriginous distribution NOT_TRANSLATED -en nl HP:0034432 IAO:0000115 Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff NOT_TRANSLATED -en nl HP:0034433 rdfs:label Distributed along skin tension lines Distributed along skin tension lines NOT_TRANSLATED -en nl HP:0034433 IAO:0000115 Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage NOT_TRANSLATED -en nl HP:0034434 rdfs:label Abnormal social communication behavior Abnormal social communication behavior NOT_TRANSLATED -en nl HP:0034434 IAO:0000115 Any abnormal behavior related to communication Any abnormal behavior related to communication NOT_TRANSLATED -en nl HP:0001667 rdfs:label Right ventricular hypertrophy Rechter ventrikelhypertrofie CANDIDATE -en nl HP:0001667 IAO:0000115 In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal NOT_TRANSLATED -en nl HP:0034435 rdfs:label Abnormal eye contact behavior Abnormal eye contact behavior NOT_TRANSLATED -en nl HP:0034435 IAO:0000115 Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that are interpreted to be appropriate may follow social and situational norms Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that are interpreted to be appropriate may follow social and situational norms NOT_TRANSLATED -en nl HP:0034436 rdfs:label Gaze avoidance Gaze avoidance NOT_TRANSLATED -en nl HP:0001669 rdfs:label Transposition of the great arteries Transpositie van de grote slagaders CANDIDATE -en nl HP:0001669 IAO:0000115 A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle NOT_TRANSLATED -en nl HP:0034437 rdfs:label Excessive eye contact Excessive eye contact NOT_TRANSLATED -en nl HP:0001670 rdfs:label Asymmetric septal hypertrophy Asymmetrische septale hypertrofie CANDIDATE -en nl HP:0001670 IAO:0000115 Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray NOT_TRANSLATED -en nl HP:0034438 rdfs:label Balanitis Balanitis NOT_TRANSLATED -en nl HP:0034438 IAO:0000115 Inflammation of glans penis Inflammation of glans penis NOT_TRANSLATED -en nl HP:0001671 rdfs:label Abnormal cardiac septum morphology Afwijking van de cardiale septa CANDIDATE -en nl HP:0001671 IAO:0000115 An anomaly of the intra-atrial or intraventricular septum An anomaly of the intra-atrial or intraventricular septum NOT_TRANSLATED -en nl HP:0034439 rdfs:label Instep location Instep location NOT_TRANSLATED -en nl HP:0034439 IAO:0000115 Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep) Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep) NOT_TRANSLATED -en nl HP:0034440 rdfs:label Ameliorated by ultraviolet light exposure Ameliorated by ultraviolet light exposure NOT_TRANSLATED -en nl HP:0034440 IAO:0000115 Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy) Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy) NOT_TRANSLATED -en nl HP:0034441 rdfs:label Decreased circulating aspartic acid concentration Decreased circulating aspartic acid concentration NOT_TRANSLATED -en nl HP:0034441 IAO:0000115 An reduced concentration of aspartic acid in the blood circulation An reduced concentration of aspartic acid in the blood circulation NOT_TRANSLATED -en nl HP:0001674 rdfs:label Complete atrioventricular canal defect Volledig atrioventriculair kanaaldefect CANDIDATE -en nl HP:0001674 IAO:0000115 A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect NOT_TRANSLATED -en nl HP:0034442 rdfs:label Abnormal circulating erythropoietin concentration Abnormal circulating erythropoietin concentration NOT_TRANSLATED -en nl HP:0034442 IAO:0000115 Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production NOT_TRANSLATED -en nl HP:0034443 rdfs:label Reduced circulating erythropoietin concentration Reduced circulating erythropoietin concentration NOT_TRANSLATED -en nl HP:0034443 IAO:0000115 Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production NOT_TRANSLATED -en nl HP:0034444 rdfs:label Abnormal gamma-glutamyltransferase level Abnormal gamma-glutamyltransferase level NOT_TRANSLATED -en nl HP:0034444 IAO:0000115 Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues NOT_TRANSLATED -en nl HP:0001677 rdfs:label Coronary artery atherosclerosis Coronaire hartziekten CANDIDATE -en nl HP:0001677 IAO:0000115 Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia NOT_TRANSLATED -en nl HP:0034445 rdfs:label Reduced gamma-glutamyltransferase level Reduced gamma-glutamyltransferase level NOT_TRANSLATED -en nl HP:0034445 IAO:0000115 Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues NOT_TRANSLATED -en nl HP:0001678 rdfs:label Atrioventricular block Atrioventiculair blok CANDIDATE -en nl HP:0001678 IAO:0000115 Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles NOT_TRANSLATED -en nl HP:0034446 rdfs:label Elevated circulating histamine concentration Elevated circulating histamine concentration NOT_TRANSLATED -en nl HP:0034446 IAO:0000115 Increased concentration of histamine in the blood circulation Increased concentration of histamine in the blood circulation NOT_TRANSLATED -en nl HP:0001679 rdfs:label Abnormal aortic morphology Afwijking van de aorta CANDIDATE -en nl HP:0001679 IAO:0000115 An abnormality of the aorta An abnormality of the aorta NOT_TRANSLATED -en nl HP:0034447 rdfs:label Increased circulating interleukin 18 concentration Increased circulating interleukin 18 concentration NOT_TRANSLATED -en nl HP:0034447 IAO:0000115 An increased concentration of interleukin-18 in the blood circulation An increased concentration of interleukin-18 in the blood circulation NOT_TRANSLATED -en nl HP:0001680 rdfs:label Coarctation of aorta Coarctatie van de aorta CANDIDATE -en nl HP:0001680 IAO:0000115 Coarctation of the aorta is a narrowing or constriction of a segment of the aorta Coarctation of the aorta is a narrowing or constriction of a segment of the aorta NOT_TRANSLATED -en nl HP:0034448 rdfs:label Abnormal phytanic acid:pristanic acid ratio Abnormal phytanic acid:pristanic acid ratio NOT_TRANSLATED -en nl HP:0034448 IAO:0000115 Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration NOT_TRANSLATED -en nl HP:0001681 rdfs:label Angina pectoris Angina pectoris (hartkramp) CANDIDATE -en nl HP:0001681 IAO:0000115 Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia NOT_TRANSLATED -en nl HP:0034449 rdfs:label Increased phytanic acid:pristanic acid ratio Increased phytanic acid:pristanic acid ratio NOT_TRANSLATED -en nl HP:0034449 IAO:0000115 An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration NOT_TRANSLATED -en nl HP:0001682 rdfs:label Subvalvular aortic stenosis Subaortische stenose CANDIDATE -en nl HP:0001682 IAO:0000115 A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve NOT_TRANSLATED -en nl HP:0034450 rdfs:label Decreased phytanic acid:pristanic acid ratio Decreased phytanic acid:pristanic acid ratio NOT_TRANSLATED -en nl HP:0034450 IAO:0000115 A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration NOT_TRANSLATED -en nl HP:0001683 rdfs:label Ectopia cordis Ectopia cordis CANDIDATE -en nl HP:0001683 IAO:0000115 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall NOT_TRANSLATED -en nl HP:0034451 rdfs:label Rectovesical fistula Rectovesical fistula NOT_TRANSLATED -en nl HP:0034451 IAO:0000115 An aberrant, pathological communication between the rectum and the bladder An aberrant, pathological communication between the rectum and the bladder NOT_TRANSLATED -en nl HP:0001684 rdfs:label Secundum atrial septal defect Secundum atriumseptumdefect CANDIDATE -en nl HP:0001684 IAO:0000115 A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum NOT_TRANSLATED -en nl HP:0034452 rdfs:label Rectoureteral fistula Rectoureteral fistula NOT_TRANSLATED -en nl HP:0034452 IAO:0000115 An abnormal connection (fistula) between the rectum and the ureter An abnormal connection (fistula) between the rectum and the ureter NOT_TRANSLATED -en nl HP:0001685 rdfs:label Myocardial fibrosis Myocardiale fibrose CANDIDATE -en nl HP:0001685 IAO:0000115 Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts NOT_TRANSLATED -en nl HP:0034453 rdfs:label Hypoplastic umbilicus Hypoplastic umbilicus NOT_TRANSLATED -en nl HP:0034453 IAO:0000115 Underdevelopment of the umbilicus Underdevelopment of the umbilicus NOT_TRANSLATED -en nl HP:0001686 rdfs:label Loss of voice Stemverlies CANDIDATE -en nl HP:0034454 rdfs:label Arachnoid granulation Arachnoid granulation NOT_TRANSLATED -en nl HP:0034454 IAO:0000115 Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull NOT_TRANSLATED -en nl HP:0034455 rdfs:label Increased CSF taurine concentration Increased CSF taurine concentration NOT_TRANSLATED -en nl HP:0034455 IAO:0000115 Increased concentration of taurine in the cerebrospinal fluid (CSF) Increased concentration of taurine in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0001688 rdfs:label Sinus bradycardia Sinus bradycardie CANDIDATE -en nl HP:0001688 IAO:0000115 Bradycardia related to a mean resting sinus rate of less than 50 beats per minute Bradycardia related to a mean resting sinus rate of less than 50 beats per minute NOT_TRANSLATED -en nl HP:0034456 rdfs:label Elevated circulating glutathione concentration Elevated circulating glutathione concentration NOT_TRANSLATED -en nl HP:0034456 IAO:0000115 An abnormally increased level of glutathione in the blood circulation An abnormally increased level of glutathione in the blood circulation NOT_TRANSLATED -en nl HP:0034457 rdfs:label Hawkinsinuria Hawkinsinuria NOT_TRANSLATED -en nl HP:0034457 IAO:0000115 Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group NOT_TRANSLATED -en nl HP:0034458 rdfs:label Elevated urinary phenylpyruvic acid level Elevated urinary phenylpyruvic acid level NOT_TRANSLATED -en nl HP:0034458 IAO:0000115 An abnormally increased amount of phenylpyruvic acid in the urine An abnormally increased amount of phenylpyruvic acid in the urine NOT_TRANSLATED -en nl HP:0001691 rdfs:label Muscular subvalvular aortic stenosis Musculaire subvalvulaire aorta stenose CANDIDATE -en nl HP:0001691 IAO:0000115 A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract NOT_TRANSLATED -en nl HP:0034459 rdfs:label Ameliorated by lumbar puncture Ameliorated by lumbar puncture NOT_TRANSLATED -en nl HP:0034459 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by lumbar puncture Applies to a sign or symptom that is improved or made more bearable by lumbar puncture NOT_TRANSLATED -en nl HP:0001692 rdfs:label Atrial arrhythmia Primaire atriale aritmie CANDIDATE -en nl HP:0001692 IAO:0000115 A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance NOT_TRANSLATED -en nl HP:0034460 rdfs:label Increased CSF uracil concentration Increased CSF uracil concentration NOT_TRANSLATED -en nl HP:0034460 IAO:0000115 An increased level of uracil in the cerebrospinal fluid An increased level of uracil in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0001693 rdfs:label Cardiac shunt Cardiale shunt CANDIDATE -en nl HP:0001693 IAO:0000115 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system NOT_TRANSLATED -en nl HP:0034461 rdfs:label Elevated urine kynurenine level Elevated urine kynurenine level NOT_TRANSLATED -en nl HP:0034461 IAO:0000115 An abnormally increased amount of kynurenine in the urine An abnormally increased amount of kynurenine in the urine NOT_TRANSLATED -en nl HP:0001694 rdfs:label Right-to-left shunt Rechts-naar-links-shunt CANDIDATE -en nl HP:0001694 IAO:0000115 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left NOT_TRANSLATED -en nl HP:0034462 rdfs:label Increased CSF L-alloisoleucine concentration Increased CSF L-alloisoleucine concentration NOT_TRANSLATED -en nl HP:0034462 IAO:0000115 An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF) An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0001695 rdfs:label Cardiac arrest Hartstilstand CANDIDATE -en nl HP:0001695 IAO:0000115 An abrupt loss of heart function An abrupt loss of heart function NOT_TRANSLATED -en nl HP:0034463 rdfs:label Hydroxylysinemia Hydroxylysinemia NOT_TRANSLATED -en nl HP:0034463 IAO:0000115 An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover NOT_TRANSLATED -en nl HP:0001696 rdfs:label Situs inversus totalis Situs inversus totalis CANDIDATE -en nl HP:0001696 IAO:0000115 "A left-right reversal (or ""mirror reflection"") of the anatomical location of the major thoracic and abdominal organs" "A left-right reversal (or ""mirror reflection"") of the anatomical location of the major thoracic and abdominal organs" NOT_TRANSLATED -en nl HP:0034464 rdfs:label Homocitrullinuria Homocitrullinuria NOT_TRANSLATED -en nl HP:0034464 IAO:0000115 An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders NOT_TRANSLATED -en nl HP:0100001 rdfs:label Malignant mesothelioma Maligne mesothelioom CANDIDATE -en nl HP:0100001 IAO:0000115 Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer NOT_TRANSLATED -en nl HP:0001697 rdfs:label Abnormal pericardium morphology Afwijking van het hartzakje CANDIDATE -en nl HP:0001697 IAO:0000115 An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery NOT_TRANSLATED -en nl HP:0034465 rdfs:label 2-hydroxyadipic aciduria 2-hydroxyadipic aciduria NOT_TRANSLATED -en nl HP:0034465 IAO:0000115 An increase in the level of 2-hydroxyadipic acid in the urine An increase in the level of 2-hydroxyadipic acid in the urine NOT_TRANSLATED -en nl HP:0100000 rdfs:label Early onset of sexual maturation Vroege onset van de seksuele rijping CANDIDATE -en nl HP:0100000 IAO:0000115 An early onset of puberty, in this case early does not refer to precocious An early onset of puberty, in this case early does not refer to precocious NOT_TRANSLATED -en nl HP:0001698 rdfs:label Pericardial effusion Pericardeffusie CANDIDATE -en nl HP:0001698 IAO:0000115 Accumulation of fluid within the pericardium Accumulation of fluid within the pericardium NOT_TRANSLATED -en nl HP:0034466 rdfs:label Homoargininuria Homoargininuria NOT_TRANSLATED -en nl HP:0034466 IAO:0000115 An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid NOT_TRANSLATED -en nl HP:0100003 rdfs:label Peritoneal mesothelioma Peritoneaal mesothelioom CANDIDATE -en nl HP:0100003 IAO:0000115 A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma NOT_TRANSLATED -en nl HP:0001699 rdfs:label Sudden death Plotselinge dood CANDIDATE -en nl HP:0001699 IAO:0000115 Rapid and unexpected death Rapid and unexpected death NOT_TRANSLATED -en nl HP:0034467 rdfs:label Increased urinary cysteine level Increased urinary cysteine level NOT_TRANSLATED -en nl HP:0034467 IAO:0000115 An increased concentration of cysteine in the urine An increased concentration of cysteine in the urine NOT_TRANSLATED -en nl HP:0100002 rdfs:label Pleural mesothelioma Pleuraal mesothelioom CANDIDATE -en nl HP:0100002 IAO:0000115 A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma NOT_TRANSLATED -en nl HP:0001700 rdfs:label Myocardial necrosis Myocardiale necrose CANDIDATE -en nl HP:0001700 IAO:0000115 Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction) Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction) NOT_TRANSLATED -en nl HP:0034468 rdfs:label Gastric xanthoma Gastric xanthoma NOT_TRANSLATED -en nl HP:0034468 IAO:0000115 Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids NOT_TRANSLATED -en nl HP:0100005 rdfs:label Testicular mesothelioma Testiculair mesothelioom CANDIDATE -en nl HP:0100005 IAO:0000115 A Malignant mesothelioma of the testis A Malignant mesothelioma of the testis NOT_TRANSLATED -en nl HP:0001701 rdfs:label Pericarditis Pericarditis CANDIDATE -en nl HP:0001701 IAO:0000115 Inflammation of the sac-like covering around the heart (pericardium) Inflammation of the sac-like covering around the heart (pericardium) NOT_TRANSLATED -en nl HP:0034469 rdfs:label Decreased stool elastase level Decreased stool elastase level NOT_TRANSLATED -en nl HP:0034469 IAO:0000115 Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency NOT_TRANSLATED -en nl HP:0100004 rdfs:label Pericardial mesothelioma Pericardiaal Mesothelioom CANDIDATE -en nl HP:0100004 IAO:0000115 A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart) A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart) NOT_TRANSLATED -en nl HP:0001702 rdfs:label Abnormal tricuspid valve morphology Afwijking van de tricuspidalisklep CANDIDATE -en nl HP:0001702 IAO:0000115 Any structural anomaly of the tricuspid valve Any structural anomaly of the tricuspid valve NOT_TRANSLATED -en nl HP:0034470 rdfs:label Elevated stool chloride content Elevated stool chloride content NOT_TRANSLATED -en nl HP:0034470 IAO:0000115 Elevated amount of chloride in the stool Elevated amount of chloride in the stool NOT_TRANSLATED -en nl HP:0100007 rdfs:label Neoplasm of the peripheral nervous system Neoplasma van het perifere zenuwstelsel CANDIDATE -en nl HP:0100007 IAO:0000115 A benign or malignant neoplasm (tumour) of the peripheral nervous system A benign or malignant neoplasm (tumour) of the peripheral nervous system NOT_TRANSLATED -en nl HP:0034471 rdfs:label Increased fecal coproporphyrin III:coproporphyrin I ratio Increased fecal coproporphyrin III:coproporphyrin I ratio NOT_TRANSLATED -en nl HP:0034471 IAO:0000115 Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces NOT_TRANSLATED -en nl HP:0100006 rdfs:label Neoplasm of the central nervous system Neoplasma van het centrale zenuwstelsel CANDIDATE -en nl HP:0100006 IAO:0000115 A neoplasm of the central nervous system A neoplasm of the central nervous system NOT_TRANSLATED -en nl HP:0001704 rdfs:label Tricuspid valve prolapse Tricuspidalisklepprolaps CANDIDATE -en nl HP:0001704 IAO:0000115 One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle NOT_TRANSLATED -en nl HP:0034472 rdfs:label Increased fecal harderoporphyrin Increased fecal harderoporphyrin NOT_TRANSLATED -en nl HP:0034472 IAO:0000115 Abnormally high concentration of harderoporphyrin in feces Abnormally high concentration of harderoporphyrin in feces NOT_TRANSLATED -en nl HP:0100009 rdfs:label Intracranial meningioma Intracranieel meningeoom CANDIDATE -en nl HP:0001705 rdfs:label Right ventricular outlet tract obstruction Rechter ventriculaire outlet obstructie CANDIDATE -en nl HP:0001705 IAO:0000115 An obstruction to the forward flow of blood in the outflow tract of the right ventricle An obstruction to the forward flow of blood in the outflow tract of the right ventricle NOT_TRANSLATED -en nl HP:0034473 rdfs:label Increased fecal heptacarboxylporphyrin Increased fecal heptacarboxylporphyrin NOT_TRANSLATED -en nl HP:0034473 IAO:0000115 Abnormally high concentration of heptacarboxylporphyrin in feces Abnormally high concentration of heptacarboxylporphyrin in feces NOT_TRANSLATED -en nl HP:0100008 rdfs:label Schwannoma Schwannoom CANDIDATE -en nl HP:0100008 IAO:0000115 A benign nerve sheath tumor composed of Schwann cells A benign nerve sheath tumor composed of Schwann cells NOT_TRANSLATED -en nl HP:0001706 rdfs:label Endocardial fibroelastosis Endocardiale fibroelastose CANDIDATE -en nl HP:0001706 IAO:0000115 Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction NOT_TRANSLATED -en nl HP:0034474 rdfs:label Increased fecal pentacarboxylporphyrin Increased fecal pentacarboxylporphyrin NOT_TRANSLATED -en nl HP:0034474 IAO:0000115 Abnormally high concentration of pentacarboxylporphyrin in feces Abnormally high concentration of pentacarboxylporphyrin in feces NOT_TRANSLATED -en nl HP:0100011 rdfs:label Scleral schwannoma Scleraal schwannoom CANDIDATE -en nl HP:0001707 rdfs:label Abnormal right ventricle morphology Afwijking van het rechterventrikel CANDIDATE -en nl HP:0001707 IAO:0000115 An abnormality of the right ventricle of the heart An abnormality of the right ventricle of the heart NOT_TRANSLATED -en nl HP:0034475 rdfs:label Increased fecal isocoproporphyrin Increased fecal isocoproporphyrin NOT_TRANSLATED -en nl HP:0034475 IAO:0000115 Abnormally high concentration of isocoproporphyrin in feces Abnormally high concentration of isocoproporphyrin in feces NOT_TRANSLATED -en nl HP:0100010 rdfs:label Spinal meningioma Spinaal meningeoom CANDIDATE -en nl HP:0001708 rdfs:label Right ventricular failure Rechter ventrikelfalen CANDIDATE -en nl HP:0001708 IAO:0000115 Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly NOT_TRANSLATED -en nl HP:0034476 rdfs:label Positive fecal Clostridium botulinum test Positive fecal Clostridium botulinum test NOT_TRANSLATED -en nl HP:0034476 IAO:0000115 Identification of Clostridium botulinum toxin in the feces Identification of Clostridium botulinum toxin in the feces NOT_TRANSLATED -en nl HP:0100013 rdfs:label Neoplasm of the breast Neoplasma van de borst CANDIDATE -en nl HP:0100013 IAO:0000115 A tumor (abnormal growth of tissue) of the breast A tumor (abnormal growth of tissue) of the breast NOT_TRANSLATED -en nl HP:0001709 rdfs:label Third degree atrioventricular block Derdegraads atrioventriculair blok CANDIDATE -en nl HP:0001709 IAO:0000115 Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them NOT_TRANSLATED -en nl HP:0034477 rdfs:label Perihepatic adhesions Perihepatic adhesions NOT_TRANSLATED -en nl HP:0034477 IAO:0000115 Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance NOT_TRANSLATED -en nl HP:0100012 rdfs:label Neoplasm of the eye Neoplasma van het oog CANDIDATE -en nl HP:0100012 IAO:0000115 A tumor (abnormal growth of tissue) of the eye A tumor (abnormal growth of tissue) of the eye NOT_TRANSLATED -en nl HP:0001710 rdfs:label Conotruncal defect Conotruncaal defect CANDIDATE -en nl HP:0001710 IAO:0000115 A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle NOT_TRANSLATED -en nl HP:0034478 rdfs:label Dilated vas deferens Dilated vas deferens NOT_TRANSLATED -en nl HP:0034478 IAO:0000115 Abnormal increase in diameter (expansion) of the vas deferens Abnormal increase in diameter (expansion) of the vas deferens NOT_TRANSLATED -en nl HP:0100015 rdfs:label Stahl ear Stahl oor CANDIDATE -en nl HP:0100015 IAO:0000115 The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix NOT_TRANSLATED -en nl HP:0001711 rdfs:label Abnormal left ventricle morphology Afwijking van het linkerventrikel CANDIDATE -en nl HP:0001711 IAO:0000115 Any structural abnormality of the left ventricle of the heart Any structural abnormality of the left ventricle of the heart NOT_TRANSLATED -en nl HP:0034479 rdfs:label Enlarged epididymis Enlarged epididymis NOT_TRANSLATED -en nl HP:0034479 IAO:0000115 Abnormal increase in the size of the epididymis Abnormal increase in the size of the epididymis NOT_TRANSLATED -en nl HP:0100014 rdfs:label Epiretinal membrane Epiretinaal membraan CANDIDATE -en nl HP:0100014 IAO:0000115 An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy NOT_TRANSLATED -en nl HP:0001712 rdfs:label Left ventricular hypertrophy Linker ventrikelhypertrofie CANDIDATE -en nl HP:0001712 IAO:0000115 Enlargement or increased size of the heart left ventricle Enlargement or increased size of the heart left ventricle NOT_TRANSLATED -en nl HP:0034480 rdfs:label Absent epididymidis Absent epididymidis NOT_TRANSLATED -en nl HP:0100017 rdfs:label Capsular cataract Capsulair cataract CANDIDATE -en nl HP:0100017 IAO:0000115 A cataract that affects the capsule of the lens A cataract that affects the capsule of the lens NOT_TRANSLATED -en nl HP:0001713 rdfs:label Abnormal cardiac ventricle morphology Afwijking van cardiale ventrikel CANDIDATE -en nl HP:0001713 IAO:0000115 An abnormality of a cardiac ventricle An abnormality of a cardiac ventricle NOT_TRANSLATED -en nl HP:0034481 rdfs:label Atypical gestures Atypical gestures NOT_TRANSLATED -en nl HP:0034481 IAO:0000115 Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures NOT_TRANSLATED -en nl HP:0100016 rdfs:label Abnormality of mesentery morphology Afwijking van mesenterium morfologie CANDIDATE -en nl HP:0100016 IAO:0000115 Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium) Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium) NOT_TRANSLATED -en nl HP:0001714 rdfs:label Ventricular hypertrophy Ventrikelhypertrofie CANDIDATE -en nl HP:0001714 IAO:0000115 Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy NOT_TRANSLATED -en nl HP:0034482 rdfs:label Abnormal spinal cord physiology Abnormal spinal cord physiology NOT_TRANSLATED -en nl HP:0100019 rdfs:label Cortical cataract Corticaal cataract CANDIDATE -en nl HP:0100019 IAO:0000115 A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance NOT_TRANSLATED -en nl HP:0034483 rdfs:label Bone marrow vacuolated lymphocytes Bone marrow vacuolated lymphocytes NOT_TRANSLATED -en nl HP:0034483 IAO:0000115 The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow NOT_TRANSLATED -en nl HP:0100018 rdfs:label Nuclear cataract Nucleair cataract CANDIDATE -en nl HP:0100018 IAO:0000115 A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown NOT_TRANSLATED -en nl HP:0001716 rdfs:label Wolff-Parkinson-White syndrome Wolff-Parkinson-White-syndroom CANDIDATE -en nl HP:0001716 IAO:0000115 A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway NOT_TRANSLATED -en nl HP:0034484 rdfs:label Spinal cord calcifications Spinal cord calcifications NOT_TRANSLATED -en nl HP:0034484 IAO:0000115 The presence of calcium deposition in the spinal cord The presence of calcium deposition in the spinal cord NOT_TRANSLATED -en nl HP:0100021 rdfs:label Cerebral palsy Cerebrale parese CANDIDATE -en nl HP:0100021 IAO:0000115 Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems NOT_TRANSLATED -en nl HP:0001717 rdfs:label Coronary artery calcification Kransslagaderverkalking CANDIDATE -en nl HP:0001717 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery NOT_TRANSLATED -en nl HP:0034485 rdfs:label Neuroepithelial cyst Neuroepithelial cyst NOT_TRANSLATED -en nl HP:0034485 IAO:0000115 A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality NOT_TRANSLATED -en nl HP:0100020 rdfs:label Posterior capsular cataract Posterieur capsulair cataract CANDIDATE -en nl HP:0100020 IAO:0000115 A cataract which is found in the back outer layer of the lens. This type often develops more rapidly A cataract which is found in the back outer layer of the lens. This type often develops more rapidly NOT_TRANSLATED -en nl HP:0001718 rdfs:label Mitral stenosis Mitralisstenose CANDIDATE -en nl HP:0001718 IAO:0000115 An abnormal narrowing of the orifice of the mitral valve An abnormal narrowing of the orifice of the mitral valve NOT_TRANSLATED -en nl HP:0034486 rdfs:label Reduced circulating interleukin 7 concentration Reduced circulating interleukin 7 concentration NOT_TRANSLATED -en nl HP:0034486 IAO:0000115 A diminished concentration of interleukin-7 in the circulation A diminished concentration of interleukin-7 in the circulation NOT_TRANSLATED -en nl HP:0100023 rdfs:label Recurrent hand flapping Terugkerend wapperen met de handen CANDIDATE -en nl HP:0100023 IAO:0000115 A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down NOT_TRANSLATED -en nl HP:0001719 rdfs:label Double outlet right ventricle Dubbele uitlaat rechterventrikel CANDIDATE -en nl HP:0001719 IAO:0000115 Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle NOT_TRANSLATED -en nl HP:0034487 rdfs:label Increased circulating interleukin 12 concentration Increased circulating interleukin 12 concentration NOT_TRANSLATED -en nl HP:0034487 IAO:0000115 An increased concentration of interleukin-12 in the blood circulation An increased concentration of interleukin-12 in the blood circulation NOT_TRANSLATED -en nl HP:0100022 rdfs:label Abnormality of movement Afwijking van beweging CANDIDATE -en nl HP:0100022 IAO:0000115 An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements NOT_TRANSLATED -en nl HP:0034488 rdfs:label Increased circulating interleukin 13 concentration Increased circulating interleukin 13 concentration NOT_TRANSLATED -en nl HP:0034488 IAO:0000115 An increased concentration of interleukin-13 in the blood circulation An increased concentration of interleukin-13 in the blood circulation NOT_TRANSLATED -en nl HP:0100025 rdfs:label Overfriendliness Overmatige vriendelijkheid CANDIDATE -en nl HP:0100025 IAO:0000115 A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction NOT_TRANSLATED -en nl HP:0034489 rdfs:label Increased circulating interleukin 2 concentration Increased circulating interleukin 2 concentration NOT_TRANSLATED -en nl HP:0034489 IAO:0000115 An increased concentration of interleukin-2 in the blood circulation An increased concentration of interleukin-2 in the blood circulation NOT_TRANSLATED -en nl HP:0100024 rdfs:label Conspicuously happy disposition Opvallen blij karakter CANDIDATE -en nl HP:0100024 IAO:0000115 An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger NOT_TRANSLATED -en nl HP:0001722 rdfs:label High-output congestive heart failure High-output congestief hartfalen CANDIDATE -en nl HP:0001722 IAO:0000115 A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others NOT_TRANSLATED -en nl HP:0034490 rdfs:label Increased circulating interleukin 4 concentration Increased circulating interleukin 4 concentration NOT_TRANSLATED -en nl HP:0034490 IAO:0000115 An increased concentration of interleukin-4 in the blood circulation An increased concentration of interleukin-4 in the blood circulation NOT_TRANSLATED -en nl HP:0100027 rdfs:label Recurrent pancreatitis Terugkerende pancreatitis CANDIDATE -en nl HP:0100027 IAO:0000115 A recurrent form of pancreatitis A recurrent form of pancreatitis NOT_TRANSLATED -en nl HP:0001723 rdfs:label Restrictive cardiomyopathy Restrictieve cardiomyopathie CANDIDATE -en nl HP:0001723 IAO:0000115 Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness NOT_TRANSLATED -en nl HP:0034491 rdfs:label Increased circulating interleukin 5 concentration Increased circulating interleukin 5 concentration NOT_TRANSLATED -en nl HP:0034491 IAO:0000115 An increased concentration of interleukin-5 in the blood circulation An increased concentration of interleukin-5 in the blood circulation NOT_TRANSLATED -en nl HP:0100026 rdfs:label Arteriovenous malformation Arterioveneuze malformatie CANDIDATE -en nl HP:0100026 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries NOT_TRANSLATED -en nl HP:0034492 rdfs:label Salpingitis Salpingitis NOT_TRANSLATED -en nl HP:0034492 IAO:0000115 An inflammation of the fallopian tube An inflammation of the fallopian tube NOT_TRANSLATED -en nl HP:0100029 rdfs:label Lingual thyroid Linguale schildklier CANDIDATE -en nl HP:0100029 IAO:0000115 An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend NOT_TRANSLATED -en nl HP:0034493 rdfs:label Tubo-ovarian abscess Tubo-ovarian abscess NOT_TRANSLATED -en nl HP:0034493 IAO:0000115 A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease NOT_TRANSLATED -en nl HP:0100028 rdfs:label Ectopic thyroid Ectopische schildklier CANDIDATE -en nl HP:0100028 IAO:0000115 Mislocalised thyroid gland Mislocalised thyroid gland NOT_TRANSLATED -en nl HP:0034494 rdfs:label Opacified paranasal sinuses Opacified paranasal sinuses NOT_TRANSLATED -en nl HP:0034494 IAO:0000115 White appearance (radio-opaqueness) of a paranasal sinus on radiography White appearance (radio-opaqueness) of a paranasal sinus on radiography NOT_TRANSLATED -en nl HP:0100031 rdfs:label Neoplasm of the thyroid gland Neoplasma van de schildklier CANDIDATE -en nl HP:0100031 IAO:0000115 A tumor (abnormal growth of tissue) of the thyroid gland A tumor (abnormal growth of tissue) of the thyroid gland NOT_TRANSLATED -en nl HP:0001727 rdfs:label Thromboembolic stroke Trombo-embolische beroerte CANDIDATE -en nl HP:0001727 IAO:0000115 A cerebrovascular accident (stroke) that occurs because of thromboembolism A cerebrovascular accident (stroke) that occurs because of thromboembolism NOT_TRANSLATED -en nl HP:0034495 rdfs:label Elevated brain glutamine level by MRS Elevated brain glutamine level by MRS NOT_TRANSLATED -en nl HP:0034495 IAO:0000115 An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0100030 rdfs:label Accessory ectopic thyroid tissue Accessoire ectopische schildklier weefsel CANDIDATE -en nl HP:0100030 IAO:0000115 Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract NOT_TRANSLATED -en nl HP:0034496 rdfs:label Abnormal brain glutamine level by MRS Abnormal brain glutamine level by MRS NOT_TRANSLATED -en nl HP:0034496 IAO:0000115 A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0100033 rdfs:label Tics Tics CANDIDATE -en nl HP:0100033 IAO:0000115 Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement NOT_TRANSLATED -en nl HP:0034497 rdfs:label Increased urinary hexanoic acid level Increased urinary hexanoic acid level NOT_TRANSLATED -en nl HP:0034497 IAO:0000115 An increased amount of hexanoic acid in the urine An increased amount of hexanoic acid in the urine NOT_TRANSLATED -en nl HP:0001730 rdfs:label Progressive hearing impairment Progressieve slechthorendheid CANDIDATE -en nl HP:0001730 IAO:0000115 A progressive form of hearing impairment A progressive form of hearing impairment NOT_TRANSLATED -en nl HP:0034498 rdfs:label Hepatic focal nodular hyperplasia Hepatic focal nodular hyperplasia NOT_TRANSLATED -en nl HP:0034498 IAO:0000115 Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated NOT_TRANSLATED -en nl HP:0100035 rdfs:label Phonic tics Fonetische tics CANDIDATE -en nl HP:0100035 IAO:0000115 Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound NOT_TRANSLATED -en nl HP:0034499 rdfs:label Increased bone marrow iron Increased bone marrow iron NOT_TRANSLATED -en nl HP:0034499 IAO:0000115 An increased amount of iron in the bone marrow An increased amount of iron in the bone marrow NOT_TRANSLATED -en nl HP:0100034 rdfs:label Motor tics Motorische tics CANDIDATE -en nl HP:0100034 IAO:0000115 Movement-based tics affecting discrete muscle groups Movement-based tics affecting discrete muscle groups NOT_TRANSLATED -en nl HP:0001732 rdfs:label Abnormality of the pancreas Afwijking van de alvleesklier CANDIDATE -en nl HP:0001732 IAO:0000115 An abnormality of the pancreas An abnormality of the pancreas NOT_TRANSLATED -en nl HP:0034500 rdfs:label Glenoid fracture Glenoid fracture NOT_TRANSLATED -en nl HP:0034500 IAO:0000115 A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head NOT_TRANSLATED -en nl HP:0100037 rdfs:label Abnormality of the scalp hair Afwijking van het hoofdhaar CANDIDATE -en nl HP:0100037 IAO:0000115 An abnormality of the hair of head An abnormality of the hair of head NOT_TRANSLATED -en nl HP:0001733 rdfs:label Pancreatitis Pancreatitis CANDIDATE -en nl HP:0001733 IAO:0000115 The presence of inflammation in the pancreas The presence of inflammation in the pancreas NOT_TRANSLATED -en nl HP:0034501 rdfs:label Widened mediastinum Widened mediastinum NOT_TRANSLATED -en nl HP:0034501 IAO:0000115 Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm NOT_TRANSLATED -en nl HP:0100036 rdfs:label Pseudo-fractures Pseudo-fracturen CANDIDATE -en nl HP:0100036 IAO:0000115 A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture NOT_TRANSLATED -en nl HP:0001734 rdfs:label Annular pancreas Ringvormige alvleesklier CANDIDATE -en nl HP:0001734 IAO:0000115 A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum NOT_TRANSLATED -en nl HP:0034502 rdfs:label Narrow mediastinum Narrow mediastinum NOT_TRANSLATED -en nl HP:0034502 IAO:0000115 Abnormal decrease in the width of the mediastinum Abnormal decrease in the width of the mediastinum NOT_TRANSLATED -en nl HP:0100039 rdfs:label Thickened cortex of bones Verdikte cortex van beenderen CANDIDATE -en nl HP:0100039 IAO:0000115 An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones NOT_TRANSLATED -en nl HP:0001735 rdfs:label Acute pancreatitis Acute pancreatitis CANDIDATE -en nl HP:0001735 IAO:0000115 A acute form of pancreatitis A acute form of pancreatitis NOT_TRANSLATED -en nl HP:0034503 rdfs:label Ovarian torsion Ovarian torsion NOT_TRANSLATED -en nl HP:0034503 IAO:0000115 Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary NOT_TRANSLATED -en nl HP:0100038 rdfs:label Slow-growing scalp hair Langzaam groeiend hoofdhaar CANDIDATE -en nl HP:0100038 IAO:0000115 Scalp hair whose growth is slower than normal Scalp hair whose growth is slower than normal NOT_TRANSLATED -en nl HP:0034504 rdfs:label Septate gallbladder Septate gallbladder NOT_TRANSLATED -en nl HP:0034504 IAO:0000115 Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder NOT_TRANSLATED -en nl HP:0100041 rdfs:label Broad 3rd toe Brede 3e teen CANDIDATE -en nl HP:0100041 IAO:0000115 A broad appearance of the third toe A broad appearance of the third toe NOT_TRANSLATED -en nl HP:0001737 rdfs:label Pancreatic cysts Pancreatische cysten CANDIDATE -en nl HP:0001737 IAO:0000115 A cyst of the pancreas that possess a lining of mucous epithelium A cyst of the pancreas that possess a lining of mucous epithelium NOT_TRANSLATED -en nl HP:0034505 rdfs:label Gallbladder wall thickening Gallbladder wall thickening NOT_TRANSLATED -en nl HP:0034505 IAO:0000115 Abnormal increased in the thickness of the wall of the gallbladder Abnormal increased in the thickness of the wall of the gallbladder NOT_TRANSLATED -en nl HP:0100040 rdfs:label Broad 2nd toe Brede 2e teen CANDIDATE -en nl HP:0100040 IAO:0000115 A broad appearance of the second toe A broad appearance of the second toe NOT_TRANSLATED -en nl HP:0001738 rdfs:label Exocrine pancreatic insufficiency Pancreasinsufficiëntie CANDIDATE -en nl HP:0001738 IAO:0000115 Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes NOT_TRANSLATED -en nl HP:0034506 rdfs:label Gallbladder enlargement Gallbladder enlargement NOT_TRANSLATED -en nl HP:0034506 IAO:0000115 Abnormal increased in the thickness of the size of the gallbladder Abnormal increased in the thickness of the size of the gallbladder NOT_TRANSLATED -en nl HP:0100043 rdfs:label Broad 5th toe Brede 5e teen CANDIDATE -en nl HP:0100043 IAO:0000115 A broad appearance of the fifth toe A broad appearance of the fifth toe NOT_TRANSLATED -en nl HP:0001739 rdfs:label Abnormal nasopharynx morphology Afwijking van de nasofarynx CANDIDATE -en nl HP:0001739 IAO:0000115 A structural anomaly of the nasopharynx A structural anomaly of the nasopharynx NOT_TRANSLATED -en nl HP:0034507 rdfs:label Gallbladder mass Gallbladder mass NOT_TRANSLATED -en nl HP:0034507 IAO:0000115 An abnormal lesion or swelling seen on gallbladder imaging An abnormal lesion or swelling seen on gallbladder imaging NOT_TRANSLATED -en nl HP:0100042 rdfs:label Broad 4th toe Brede 4e teen CANDIDATE -en nl HP:0100042 IAO:0000115 A broad appearance of the fourth toe A broad appearance of the fourth toe NOT_TRANSLATED -en nl HP:0034508 rdfs:label Fingerprint bodies Fingerprint bodies NOT_TRANSLATED -en nl HP:0034508 IAO:0000115 Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints NOT_TRANSLATED -en nl HP:0100045 rdfs:label Bracket epiphyses of the 2nd toe Haakvormige epifysen van de 2e teen CANDIDATE -en nl HP:0001741 rdfs:label Phimosis Phimosis CANDIDATE -en nl HP:0001741 IAO:0000115 The male foreskin cannot be fully retracted from the head of the penis The male foreskin cannot be fully retracted from the head of the penis NOT_TRANSLATED -en nl HP:0034509 rdfs:label Spheroid bodies Spheroid bodies NOT_TRANSLATED -en nl HP:0034509 IAO:0000115 An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber NOT_TRANSLATED -en nl HP:0100044 rdfs:label Absent epiphyses of the 2nd toe Afwezige epifysen van de 2e teen CANDIDATE -en nl HP:0001742 rdfs:label Nasal congestion Nasale obstructie CANDIDATE -en nl HP:0001742 IAO:0000115 Reduced ability to pass air through the nasal cavity often leading to mouth breathing Reduced ability to pass air through the nasal cavity often leading to mouth breathing NOT_TRANSLATED -en nl HP:0034510 rdfs:label Abnormal muscle tissue enzyme activity Abnormal muscle tissue enzyme activity NOT_TRANSLATED -en nl HP:0034510 IAO:0000115 Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen NOT_TRANSLATED -en nl HP:0100047 rdfs:label Enlarged epiphyses of the 2nd toe Vergrote epifysen van de 2e teen CANDIDATE -en nl HP:0001743 rdfs:label Abnormality of the spleen Afwijking van de milt CANDIDATE -en nl HP:0001743 IAO:0000115 An abnormality of the spleen An abnormality of the spleen NOT_TRANSLATED -en nl HP:0034511 rdfs:label Reduced muscle aconitase activity Reduced muscle aconitase activity NOT_TRANSLATED -en nl HP:0034511 IAO:0000115 Diminished activity of the enzyne aconitase in muscle tissue Diminished activity of the enzyne aconitase in muscle tissue NOT_TRANSLATED -en nl HP:0100046 rdfs:label Cone-shaped epiphyses of the 2nd toe Kegel-vormige epifysen van de 2e teen CANDIDATE -en nl HP:0001744 rdfs:label Splenomegaly Splenomegalie CANDIDATE -en nl HP:0001744 IAO:0000115 Abnormal increased size of the spleen Abnormal increased size of the spleen NOT_TRANSLATED -en nl HP:0034512 rdfs:label Transitional-cell carcinoma of the ureter Transitional-cell carcinoma of the ureter NOT_TRANSLATED -en nl HP:0034512 IAO:0000115 A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain NOT_TRANSLATED -en nl HP:0100049 rdfs:label Irregular epiphyses of the 2nd toe Onregelmatige epifysen van de 2e teen CANDIDATE -en nl HP:0034513 rdfs:label Increased circulating Interferon-alpha concentration Increased circulating Interferon-alpha concentration NOT_TRANSLATED -en nl HP:0034513 IAO:0000115 An elevation in the concentration of interferon alpha measured in the blood circulation An elevation in the concentration of interferon alpha measured in the blood circulation NOT_TRANSLATED -en nl HP:0100048 rdfs:label Fragmentation of the epiphyses of the 2nd toe Fragmentatie van de epifysen van de 2e teen CANDIDATE -en nl HP:0001746 rdfs:label Asplenia Asplenie CANDIDATE -en nl HP:0001746 IAO:0000115 Absence (aplasia) of the spleen Absence (aplasia) of the spleen NOT_TRANSLATED -en nl HP:0034514 rdfs:label Liver hamartoma Liver hamartoma NOT_TRANSLATED -en nl HP:0034514 IAO:0000115 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver NOT_TRANSLATED -en nl HP:0100051 rdfs:label Pseudoepiphyses of the 2nd toe Pseudo-epifysen van de 2e teen CANDIDATE -en nl HP:0001747 rdfs:label Accessory spleen Bijmilt CANDIDATE -en nl HP:0001747 IAO:0000115 An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance NOT_TRANSLATED -en nl HP:0034515 rdfs:label Ameloblastoma Ameloblastoma NOT_TRANSLATED -en nl HP:0034515 IAO:0000115 Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ NOT_TRANSLATED -en nl HP:0100050 rdfs:label Ivory epiphyses of the 2nd toe Ivoren epifysen van de 2e teen CANDIDATE -en nl HP:0100050 IAO:0000115 Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0001748 rdfs:label Polysplenia Polysplenie CANDIDATE -en nl HP:0001748 IAO:0000115 Polysplenia is a congenital disease manifested by multiple small accessory spleens Polysplenia is a congenital disease manifested by multiple small accessory spleens NOT_TRANSLATED -en nl HP:0034516 rdfs:label Ameliorated by ketogenic diet Ameliorated by ketogenic diet NOT_TRANSLATED -en nl HP:0034516 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet NOT_TRANSLATED -en nl HP:0100053 rdfs:label Stippling of the epiphyses of the 2nd toe Vlekkerige calcificaties van de epifysen van de 2e teen CANDIDATE -en nl HP:0100053 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe NOT_TRANSLATED -en nl HP:0034517 rdfs:label Pretibial hyperpigmentation Pretibial hyperpigmentation NOT_TRANSLATED -en nl HP:0034517 IAO:0000115 Darkening of the area of skin that overlies the shin Darkening of the area of skin that overlies the shin NOT_TRANSLATED -en nl HP:0100052 rdfs:label Small epiphyses of the 2nd toe Kleine epifysen van de 2e teen CANDIDATE -en nl HP:0001750 rdfs:label Single ventricle Één ventrikel CANDIDATE -en nl HP:0001750 IAO:0000115 The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle NOT_TRANSLATED -en nl HP:0034518 rdfs:label Gingival fragility Gingival fragility NOT_TRANSLATED -en nl HP:0034518 IAO:0000115 Gums that are easily damaged Gums that are easily damaged NOT_TRANSLATED -en nl HP:0100055 rdfs:label Absent epiphyses of the 3rd toe Afwezige epifysen van de 3e teen CANDIDATE -en nl HP:0001751 rdfs:label Vestibular dysfunction Vestibulaire dysfunctie CANDIDATE -en nl HP:0001751 IAO:0000115 An abnormality of the functioning of the vestibular apparatus An abnormality of the functioning of the vestibular apparatus NOT_TRANSLATED -en nl HP:0034519 rdfs:label Muscle fiber fuchsinophilic inclusion bodies Muscle fiber fuchsinophilic inclusion bodies NOT_TRANSLATED -en nl HP:0034519 IAO:0000115 The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin NOT_TRANSLATED -en nl HP:0100054 rdfs:label Triangular epiphyses of the 2nd toe Driehoekige epifysen van de 2e teen CANDIDATE -en nl HP:0034520 rdfs:label Esophageal myenteric plexus degeneration Esophageal myenteric plexus degeneration NOT_TRANSLATED -en nl HP:0034520 IAO:0000115 Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus NOT_TRANSLATED -en nl HP:0100057 rdfs:label Cone-shaped epiphyses of the 3rd toe Kegel-vormige epifysen van de 3e teen CANDIDATE -en nl HP:0100056 rdfs:label Bracket epiphyses of the 3rd toe Haakvormige epifysen van de 3e teen CANDIDATE -en nl HP:0100059 rdfs:label Fragmentation of the epiphyses of the 3rd toe Fragmentatie van de epifysen van de 3e teen CANDIDATE -en nl HP:0100058 rdfs:label Enlarged epiphyses of the 3rd toe Vergrote epifysen van de 3e teen CANDIDATE -en nl HP:0001756 rdfs:label Vestibular hypofunction Vestibulaire hypofunctie CANDIDATE -en nl HP:0001756 IAO:0000115 Reduced functioning of the vestibular apparatus Reduced functioning of the vestibular apparatus NOT_TRANSLATED -en nl HP:0100061 rdfs:label Ivory epiphyses of the 3rd toe Ivoren epifysen van de 3e teen CANDIDATE -en nl HP:0100061 IAO:0000115 Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0001757 rdfs:label High-frequency sensorineural hearing impairment Hoog-frequente perceptieve slechthorendheid CANDIDATE -en nl HP:0001757 IAO:0000115 A form of sensorineural hearing impairment that affects primarily the higher frequencies A form of sensorineural hearing impairment that affects primarily the higher frequencies NOT_TRANSLATED -en nl HP:0100060 rdfs:label Irregular epiphyses of the 3rd toe Onregelmatige epifysen van de 3e teen CANDIDATE -en nl HP:0100063 rdfs:label Small epiphyses of the 3rd toe Kleine epifysen van de 3e teen CANDIDATE -en nl HP:0100062 rdfs:label Pseudoepiphyses of the 3rd toe Pseudo-epifysen van de 3e teen CANDIDATE -en nl HP:0001760 rdfs:label Abnormal foot morphology Afwijking van de voet CANDIDATE -en nl HP:0001760 IAO:0000115 An abnormality of the skeleton of foot An abnormality of the skeleton of foot NOT_TRANSLATED -en nl HP:0100065 rdfs:label Triangular epiphyses of the 3rd toe Driehoekige epifysen van de 3e teen CANDIDATE -en nl HP:0001761 rdfs:label Pes cavus Pes cavus CANDIDATE -en nl HP:0001761 IAO:0000115 The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight NOT_TRANSLATED -en nl HP:0100064 rdfs:label Stippling of the epiphyses of the 3rd toe Vlekkerige calcificaties van de epifysen van de 3e teen CANDIDATE -en nl HP:0100064 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe NOT_TRANSLATED -en nl HP:0001762 rdfs:label Talipes equinovarus Talipes equinovarus CANDIDATE -en nl HP:0001762 IAO:0000115 Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg NOT_TRANSLATED -en nl HP:0100067 rdfs:label Bracket epiphyses of the 4th toe Haakvormige epifysen van de 4e teen CANDIDATE -en nl HP:0001763 rdfs:label Pes planus Pes planus CANDIDATE -en nl HP:0001763 IAO:0000115 A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced NOT_TRANSLATED -en nl HP:0100066 rdfs:label Absent epiphyses of the 4th toe Afwezige epifysen van de 4e teen CANDIDATE -en nl HP:0100069 rdfs:label Enlarged epiphyses of the 4th toe Vergrote epifysen van de 4e teen CANDIDATE -en nl HP:0001765 rdfs:label Hammertoe Hamerteen CANDIDATE -en nl HP:0001765 IAO:0000115 Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint NOT_TRANSLATED -en nl HP:0100068 rdfs:label Cone-shaped epiphyses of the 4th toe Kegel-vormige epifysen van de 4e teen CANDIDATE -en nl HP:0100071 rdfs:label Irregular epiphyses of the 4th toe Onregelmatige epifysen van de 4e teen CANDIDATE -en nl HP:0100070 rdfs:label Fragmentation of the epiphyses of the 4th toe Fragmentatie van de epifysen van de 4e teen CANDIDATE -en nl HP:0100073 rdfs:label Pseudoepiphyses of the 4th toe Pseudo-epifysen van de 4e teen CANDIDATE -en nl HP:0001769 rdfs:label Broad foot Brede voet CANDIDATE -en nl HP:0001769 IAO:0000115 A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length NOT_TRANSLATED -en nl HP:0100072 rdfs:label Ivory epiphyses of the 4th toe Ivoren epifysen van de 4e teen CANDIDATE -en nl HP:0100072 IAO:0000115 Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0001770 rdfs:label Toe syndactyly Teensyndactyly CANDIDATE -en nl HP:0001770 IAO:0000115 "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED -en nl HP:0100075 rdfs:label Stippling of the epiphyses of the 4th toe Vlekkerige calcificaties van de epifysen van de 4e teen CANDIDATE -en nl HP:0100075 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe NOT_TRANSLATED -en nl HP:0001771 rdfs:label Achilles tendon contracture Achillespeescontractuur CANDIDATE -en nl HP:0001771 IAO:0000115 A contracture of the Achilles tendon A contracture of the Achilles tendon NOT_TRANSLATED -en nl HP:0100074 rdfs:label Small epiphyses of the 4th toe Kleine epifysen van de 4e teen CANDIDATE -en nl HP:0001772 rdfs:label Talipes equinovalgus Talipes equinovalgus CANDIDATE -en nl HP:0001772 IAO:0000115 A deformity of foot and ankle in which the foot is bent down and outwards A deformity of foot and ankle in which the foot is bent down and outwards NOT_TRANSLATED -en nl HP:0100077 rdfs:label Absent epiphyses of the 5th toe Afwezig epifysen van de 5e teen CANDIDATE -en nl HP:0001773 rdfs:label Short foot Korte voet CANDIDATE -en nl HP:0001773 IAO:0000115 A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective) A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective) NOT_TRANSLATED -en nl HP:0100076 rdfs:label Triangular epiphyses of the 4th toe Driehoekige epifysen van de 4e teen CANDIDATE -en nl HP:0100079 rdfs:label Cone-shaped epiphyses of the 5th toe Kegel-vormige epifysen van de 5e teen CANDIDATE -en nl HP:0001775 rdfs:label Tarsal osteovalgus Tarsale osteovalgus CANDIDATE -en nl HP:0100078 rdfs:label Bracket epiphyses of the 5th toe Haakvormige epifysen van de 5e teen CANDIDATE -en nl HP:0001776 rdfs:label Bilateral talipes equinovarus Bilaterale talipes equinovarus CANDIDATE -en nl HP:0001776 IAO:0000115 Bilateral clubfoot deformity Bilateral clubfoot deformity NOT_TRANSLATED -en nl HP:0100081 rdfs:label Fragmentation of the epiphyses of the 5th toe Fragmentatie van de epifysen van de 5e teen CANDIDATE -en nl HP:0100080 rdfs:label Enlarged epiphyses of the 5th toe Vergrote epifysen van de 5e teen CANDIDATE -en nl HP:0100083 rdfs:label Ivory epiphyses of the 5th toe Ivoren epifysen van de 5e teen CANDIDATE -en nl HP:0100083 IAO:0000115 Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0100082 rdfs:label Irregular epiphyses of the 5th toe Onregelmatige epifysen van de 5e teen CANDIDATE -en nl HP:0001780 rdfs:label Abnormality of toe Afwijking van teen CANDIDATE -en nl HP:0001780 IAO:0000115 An anomaly of a toe An anomaly of a toe NOT_TRANSLATED -en nl HP:0100085 rdfs:label Small epiphyses of the 5th toe Kleine epifysen van de 5e teen CANDIDATE -en nl HP:0100084 rdfs:label Pseudoepiphyses of the 5th toe Pseudo-epifysen van de 5e teen CANDIDATE -en nl HP:0001782 rdfs:label Bulbous tips of toes Bolvormige toppen van tenen CANDIDATE -en nl HP:0001782 IAO:0000115 An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous NOT_TRANSLATED -en nl HP:0100087 rdfs:label Triangular epiphyses of the 5th toe Driehoekige epifysen van de 5e teen CANDIDATE -en nl HP:0001783 rdfs:label Broad metatarsal Breed middenvoetsbeentje CANDIDATE -en nl HP:0001783 IAO:0000115 Increased side-to-side width of a metatarsal bone Increased side-to-side width of a metatarsal bone NOT_TRANSLATED -en nl HP:0100086 rdfs:label Stippling of the epiphyses of the 5th toe Vlekkerige calcificaties van de epifysen van de 5e teen CANDIDATE -en nl HP:0100086 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe NOT_TRANSLATED -en nl HP:0100089 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 2nd toe Afwijking van de epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0001785 rdfs:label Ankle swelling Enkelzwelling CANDIDATE -en nl HP:0100088 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 2nd toe Afwijking van de epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001786 rdfs:label Narrow foot Smalle voet CANDIDATE -en nl HP:0001786 IAO:0000115 A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length NOT_TRANSLATED -en nl HP:0100091 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 3rd toe Afwijking van de epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001787 rdfs:label Abnormal delivery Abnormale bevalling CANDIDATE -en nl HP:0001787 IAO:0000115 An abnormality of the birth process An abnormality of the birth process NOT_TRANSLATED -en nl HP:0100090 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 2nd toe Afwijking van de epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0001788 rdfs:label Premature rupture of membranes Prematuur breken van de vliezen CANDIDATE -en nl HP:0001788 IAO:0000115 Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor NOT_TRANSLATED -en nl HP:0100093 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 3rd toe Afwijking van de epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0001789 rdfs:label Hydrops fetalis Hydrops foetalis CANDIDATE -en nl HP:0001789 IAO:0000115 The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema NOT_TRANSLATED -en nl HP:0100092 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 3rd toe Afwijking van de epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001790 rdfs:label Nonimmune hydrops fetalis Non-immune hydrops foetalis CANDIDATE -en nl HP:0001790 IAO:0000115 A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens NOT_TRANSLATED -en nl HP:0100095 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 4th toe Afwijking van de epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001791 rdfs:label Fetal ascites Foetale ascites CANDIDATE -en nl HP:0001791 IAO:0000115 Accumulation of fluid in the peritoneal cavity during the fetal period Accumulation of fluid in the peritoneal cavity during the fetal period NOT_TRANSLATED -en nl HP:0100094 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 4th toe Afwijking van de epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001792 rdfs:label Small nail Kleine nagel CANDIDATE -en nl HP:0001792 IAO:0000115 A nail that is diminished in length and width, i.e., underdeveloped nail A nail that is diminished in length and width, i.e., underdeveloped nail NOT_TRANSLATED -en nl HP:0100097 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 5th toe Afwijking van de epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100096 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 4th toe Afwijking van de epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100099 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 5th toe Afwijking van de epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0001795 rdfs:label Hyperconvex nail Hyperconvexe nagel CANDIDATE -en nl HP:0001795 IAO:0000115 When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity NOT_TRANSLATED -en nl HP:0100098 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 5th toe Afwijking van de epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100101 rdfs:label Bracket epiphysis of the distal phalanx of the 2nd toe Haakvormige epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0100100 rdfs:label Absent epiphysis of the distal phalanx of the 2nd toe Afwezige epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001798 rdfs:label Anonychia Anonychia CANDIDATE -en nl HP:0001798 IAO:0000115 Aplasia of the nail Aplasia of the nail NOT_TRANSLATED -en nl HP:0100103 rdfs:label Enlarged epiphysis of the distal phalanx of the 2nd toe Vergrote epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001799 rdfs:label Short nail Korte nagel CANDIDATE -en nl HP:0001799 IAO:0000115 Decreased length of nail Decreased length of nail NOT_TRANSLATED -en nl HP:0100102 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 2nd toe Kegel-vormige epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001800 rdfs:label Hypoplastic toenails Hypoplastische teennagels CANDIDATE -en nl HP:0001800 IAO:0000115 Underdevelopment of the toenail Underdevelopment of the toenail NOT_TRANSLATED -en nl HP:0100105 rdfs:label Irregular epiphysis of the distal phalanx of the 2nd toe Onregelmatige epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0100104 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 2nd toe Fragmentatie van de epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001802 rdfs:label Absent toenail Afwezige teennagel CANDIDATE -en nl HP:0001802 IAO:0000115 Congenital absence of the toenail Congenital absence of the toenail NOT_TRANSLATED -en nl HP:0100107 rdfs:label Pseudoepiphysis of the distal phalanx of the 2nd toe Pseudo-epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001803 rdfs:label Nail pits Nagel pits CANDIDATE -en nl HP:0001803 IAO:0000115 Small (typically about 1 mm or less in size) depressions on the dorsal nail surface Small (typically about 1 mm or less in size) depressions on the dorsal nail surface NOT_TRANSLATED -en nl HP:0100106 rdfs:label Ivory epiphysis of the distal phalanx of the 2nd toe Ivoren epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001804 rdfs:label Hypoplastic fingernail Hypoplastische vingernagel CANDIDATE -en nl HP:0001804 IAO:0000115 Underdevelopment of a fingernail Underdevelopment of a fingernail NOT_TRANSLATED -en nl HP:0100109 rdfs:label Stippling of the epiphysis of the distal phalanx of the 2nd toe Vlekkerige calcificaties van de epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0100109 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe NOT_TRANSLATED -en nl HP:0001805 rdfs:label Onychogryposis Dikke nagel CANDIDATE -en nl HP:0001805 IAO:0000115 Nail that appears thick when viewed on end Nail that appears thick when viewed on end NOT_TRANSLATED -en nl HP:0100108 rdfs:label Small epiphysis of the distal phalanx of the 2nd toe Kleine epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001806 rdfs:label Onycholysis Onycholyse CANDIDATE -en nl HP:0001806 IAO:0000115 Detachment of the nail from the nail bed Detachment of the nail from the nail bed NOT_TRANSLATED -en nl HP:0100111 rdfs:label Absent epiphysis of the middle phalanx of the 2nd toe Afwezige epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0001807 rdfs:label Ridged nail Gerichelde nagel CANDIDATE -en nl HP:0001807 IAO:0000115 Longitudinal, linear prominences in the nail plate Longitudinal, linear prominences in the nail plate NOT_TRANSLATED -en nl HP:0100110 rdfs:label Triangular epiphysis of the distal phalanx of the 2nd toe Driehoekige epifyse van de distale falanx van de 2e teen CANDIDATE -en nl HP:0001808 rdfs:label Fragile nails Kwetsbare nagels CANDIDATE -en nl HP:0001808 IAO:0000115 Nails that easily break Nails that easily break NOT_TRANSLATED -en nl HP:0100113 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 2nd toe Kegel-vormige epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0001809 rdfs:label Split nail Gespleten nagel CANDIDATE -en nl HP:0001809 IAO:0000115 A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature NOT_TRANSLATED -en nl HP:0100112 rdfs:label Bracket epiphysis of the middle phalanx of the 2nd toe Haakvormige epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0001810 rdfs:label Dystrophic toenail Dystrofische teennagel CANDIDATE -en nl HP:0001810 IAO:0000115 Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate NOT_TRANSLATED -en nl HP:0100115 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 2nd toe Fragmentatie van de epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0100114 rdfs:label Enlarged epiphysis of the middle phalanx of the 2nd toe Vergrote epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0001812 rdfs:label Hyperconvex fingernails Hyperconvexe vingernagels CANDIDATE -en nl HP:0001812 IAO:0000115 When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity NOT_TRANSLATED -en nl HP:0100117 rdfs:label Ivory epiphysis of the middle phalanx of the 2nd toe Ivoren epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0100116 rdfs:label Irregular epiphysis of the middle phalanx of the 2nd toe Onregelmatige epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0001814 rdfs:label Deep-set nails Diep ingelegde nagels CANDIDATE -en nl HP:0001814 IAO:0000115 Deeply placed nails Deeply placed nails NOT_TRANSLATED -en nl HP:0100119 rdfs:label Small epiphysis of the middle phalanx of the 2nd toe Kleine epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0100118 rdfs:label Pseudoepiphysis of the middle phalanx of the 2nd toe Pseudo-epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0100118 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe NOT_TRANSLATED -en nl HP:0001816 rdfs:label Thin nail Dunne nagel CANDIDATE -en nl HP:0001816 IAO:0000115 Nail that appears thin when viewed on end Nail that appears thin when viewed on end NOT_TRANSLATED -en nl HP:0100121 rdfs:label Triangular epiphysis of the middle phalanx of the 2nd toe Driehoekige epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0001817 rdfs:label Absent fingernail Afwezige vingernagel CANDIDATE -en nl HP:0001817 IAO:0000115 Absence of a fingernail Absence of a fingernail NOT_TRANSLATED -en nl HP:0100120 rdfs:label Stippling of the epiphysis of the middle phalanx of the 2nd toe Vlekkerige calcificaties van de epifyse van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0100120 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe NOT_TRANSLATED -en nl HP:0001818 rdfs:label Paronychia Paronychia CANDIDATE -en nl HP:0001818 IAO:0000115 The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia) The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia) NOT_TRANSLATED -en nl HP:0100123 rdfs:label Bracket epiphysis of the proximal phalanx of the 2nd toe Haakvormige epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0100122 rdfs:label Absent epiphysis of the proximal phalanx of the 2nd toe Afwezig epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0001820 rdfs:label Leukonychia Leukonychia CANDIDATE -en nl HP:0001820 IAO:0000115 White discoloration of the nails White discoloration of the nails NOT_TRANSLATED -en nl HP:0100125 rdfs:label Enlarged epiphysis of the proximal phalanx of the 2nd toe Vergrote epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0001821 rdfs:label Broad nail Brede nagel CANDIDATE -en nl HP:0001821 IAO:0000115 Increased width of nail Increased width of nail NOT_TRANSLATED -en nl HP:0100124 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 2nd toe Kegel-vormige epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0001822 rdfs:label Hallux valgus Hallux valgus CANDIDATE -en nl HP:0001822 IAO:0000115 Lateral deviation of the great toe (i.e., in the direction of the little toe) Lateral deviation of the great toe (i.e., in the direction of the little toe) NOT_TRANSLATED -en nl HP:0100127 rdfs:label Irregular epiphysis of the proximal phalanx of the 2nd toe Onregelmatige epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0100126 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe Fragmentatie van de epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0001824 rdfs:label Weight loss Gewichtsverlies CANDIDATE -en nl HP:0001824 IAO:0000115 Reduction of total body weight Reduction of total body weight NOT_TRANSLATED -en nl HP:0100129 rdfs:label Pseudoepiphysis of the proximal phalanx of the 2nd toe Pseudo-epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0100129 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe NOT_TRANSLATED -en nl HP:0100128 rdfs:label Ivory epiphysis of the proximal phalanx of the 2nd toe Ivoren epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0100131 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 2nd toe Vlekkerige calcificaties van de epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0100131 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe NOT_TRANSLATED -en nl HP:0001827 rdfs:label Genital tract atresia Atresie van de genitale tractus CANDIDATE -en nl HP:0001827 IAO:0000115 Congenital occlusion of a tube in the genital tract Congenital occlusion of a tube in the genital tract NOT_TRANSLATED -en nl HP:0100130 rdfs:label Small epiphysis of the proximal phalanx of the 2nd toe Kleine epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0100133 rdfs:label Abnormality of the pubic hair Afwijking van het schaamhaar CANDIDATE -en nl HP:0100133 IAO:0000115 Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty NOT_TRANSLATED -en nl HP:0001829 rdfs:label Foot polydactyly Polydactylie van de voet CANDIDATE -en nl HP:0001829 IAO:0000115 A kind of polydactyly characterized by the presence of a supernumerary toe or toes A kind of polydactyly characterized by the presence of a supernumerary toe or toes NOT_TRANSLATED -en nl HP:0100132 rdfs:label Triangular epiphysis of the proximal phalanx of the 2nd toe Driehoekige epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0001830 rdfs:label Postaxial foot polydactyly Postaxiale polydactylie van de voet CANDIDATE -en nl HP:0001830 IAO:0000115 Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit NOT_TRANSLATED -en nl HP:0100135 rdfs:label Absent epiphysis of the distal phalanx of the 3rd toe Afwezige epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001831 rdfs:label Short toe Korte teen CANDIDATE -en nl HP:0001831 IAO:0000115 A toe that appears disproportionately short compared to the foot A toe that appears disproportionately short compared to the foot NOT_TRANSLATED -en nl HP:0100134 rdfs:label Abnormality of the axillary hair Afwijking van het okselhaar CANDIDATE -en nl HP:0100134 IAO:0000115 Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty NOT_TRANSLATED -en nl HP:0001832 rdfs:label Abnormal metatarsal morphology Afwijking van de middenhandsbeentjes CANDIDATE -en nl HP:0001832 IAO:0000115 Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes) Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes) NOT_TRANSLATED -en nl HP:0100137 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 3rd toe Kegel-vormige epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001833 rdfs:label Long foot Lange voet CANDIDATE -en nl HP:0001833 IAO:0000115 Increased back to front length of the foot Increased back to front length of the foot NOT_TRANSLATED -en nl HP:0100136 rdfs:label Bracket epiphysis of the distal phalanx of the 3rd toe Haakvormige epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100139 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 3rd toe Fragmentatie van de epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100138 rdfs:label Enlarged epiphysis of the distal phalanx of the 3rd toe Vergrote epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001836 rdfs:label Camptodactyly of toe Camptodactylie van teen CANDIDATE -en nl HP:0001836 IAO:0000115 Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes NOT_TRANSLATED -en nl HP:0100141 rdfs:label Ivory epiphysis of the distal phalanx of the 3rd toe Ivoren epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001837 rdfs:label Broad toe Brede teen CANDIDATE -en nl HP:0001837 IAO:0000115 Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension NOT_TRANSLATED -en nl HP:0100140 rdfs:label Irregular epiphysis of the distal phalanx of the 3rd toe Onregelmatige epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001838 rdfs:label Rocker bottom foot Rocker bottom foot CANDIDATE -en nl HP:0001838 IAO:0000115 The presence of both a prominent heel and a convex contour of the sole The presence of both a prominent heel and a convex contour of the sole NOT_TRANSLATED -en nl HP:0100143 rdfs:label Small epiphysis of the distal phalanx of the 3rd toe Kleine epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001839 rdfs:label Split foot Gespleten voet CANDIDATE -en nl HP:0001839 IAO:0000115 A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet NOT_TRANSLATED -en nl HP:0100142 rdfs:label Pseudoepiphysis of the distal phalanx of the 3rd toe Pseudo-epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001840 rdfs:label Metatarsus adductus Metatarsus adductus CANDIDATE -en nl HP:0001840 IAO:0000115 The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body NOT_TRANSLATED -en nl HP:0100145 rdfs:label Triangular epiphysis of the distal phalanx of the 3rd toe Driehoekige epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0001841 rdfs:label Preaxial foot polydactyly Preaxiale polydactylie van de voet CANDIDATE -en nl HP:0001841 IAO:0000115 Duplication of all or part of the first ray Duplication of all or part of the first ray NOT_TRANSLATED -en nl HP:0100144 rdfs:label Stippling of the epiphysis of the distal phalanx of the 3rd toe Vlekkerige calcificaties van de epifyse van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100144 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe NOT_TRANSLATED -en nl HP:0001842 rdfs:label Foot acroosteolysis Progressieve acro-osteolyse van de voet CANDIDATE -en nl HP:0100147 rdfs:label Bracket epiphysis of the middle phalanx of the 3rd toe Haakvormige epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0100146 rdfs:label Absent epiphysis of the middle phalanx of the 3rd toe Afwezige epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001844 rdfs:label Abnormality of the hallux Afwijking van de hallux CANDIDATE -en nl HP:0001844 IAO:0000115 This term applies for all abnormalities of the big toe, also called hallux This term applies for all abnormalities of the big toe, also called hallux NOT_TRANSLATED -en nl HP:0100149 rdfs:label Enlarged epiphysis of the middle phalanx of the 3rd toe Vergrote epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001845 rdfs:label Overlapping toe Overlappende teen CANDIDATE -en nl HP:0001845 IAO:0000115 Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent NOT_TRANSLATED -en nl HP:0100148 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 3rd toe Kegel-vormige epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0100151 rdfs:label Irregular epiphysis of the middle phalanx of the 3rd toe Onregelmatige epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001847 rdfs:label Long hallux Lange hallux CANDIDATE -en nl HP:0001847 IAO:0000115 Increased length of the big toe Increased length of the big toe NOT_TRANSLATED -en nl HP:0100150 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 3rd toe Fragmentatie van de epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001848 rdfs:label Calcaneovalgus deformity Calcaneovalgus deformiteit CANDIDATE -en nl HP:0001848 IAO:0000115 This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus) This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus) NOT_TRANSLATED -en nl HP:0100153 rdfs:label Pseudoepiphysis of the middle phalanx of the 3rd toe Pseudo-epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001849 rdfs:label Foot oligodactyly Oligodactylie van de voet CANDIDATE -en nl HP:0001849 IAO:0000115 A developmental defect resulting in the presence of fewer than the normal number of toes A developmental defect resulting in the presence of fewer than the normal number of toes NOT_TRANSLATED -en nl HP:0100152 rdfs:label Ivory epiphysis of the middle phalanx of the 3rd toe Ivoren epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001850 rdfs:label Abnormality of the tarsal bones Afwijking van de tarsale botten CANDIDATE -en nl HP:0001850 IAO:0000115 An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone NOT_TRANSLATED -en nl HP:0100155 rdfs:label Stippling of the epiphysis of the middle phalanx of the 3rd toe Vlekkerige calcificaties van de epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0100155 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe NOT_TRANSLATED -en nl HP:0100154 rdfs:label Small epiphysis of the middle phalanx of the 3rd toe Kleine epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001852 rdfs:label Sandal gap Sandal gap CANDIDATE -en nl HP:0001852 IAO:0000115 A widely spaced gap between the first toe (the great toe) and the second toe A widely spaced gap between the first toe (the great toe) and the second toe NOT_TRANSLATED -en nl HP:0100157 rdfs:label Absent epiphysis of the proximal phalanx of the 3rd toe Afwezig epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0001853 rdfs:label Bifid distal phalanx of toe Bifide distale falanx van teen CANDIDATE -en nl HP:0100156 rdfs:label Triangular epiphysis of the middle phalanx of the 3rd toe Driehoekige epifyse van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0001854 rdfs:label Podagra Jicht CANDIDATE -en nl HP:0001854 IAO:0000115 Gout affecting the Metatarsophalangeal joint of big toe Gout affecting the Metatarsophalangeal joint of big toe NOT_TRANSLATED -en nl HP:0100159 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 3rd toe Kegel-vormige epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100158 rdfs:label Bracket epiphysis of the proximal phalanx of the 3rd toe Haakvormige epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100161 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe Fragmentatie van de epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0001857 rdfs:label Short distal phalanx of toe Korte distale falanx van teen CANDIDATE -en nl HP:0001857 IAO:0000115 Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe NOT_TRANSLATED -en nl HP:0100160 rdfs:label Enlarged epiphysis of the proximal phalanx of the 3rd toe Vergrote epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100163 rdfs:label Ivory epiphysis of the proximal phalanx of the 3rd toe Ivoren epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0001859 rdfs:label Distal foot symphalangism Symfalangisme van de distale voet CANDIDATE -en nl HP:0100162 rdfs:label Irregular epiphysis of the proximal phalanx of the 3rd toe Onregelmatige epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100165 rdfs:label Small epiphysis of the proximal phalanx of the 3rd toe Kleine epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100164 rdfs:label Pseudoepiphysis of the proximal phalanx of the 3rd toe Pseudo-epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100164 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe NOT_TRANSLATED -en nl HP:0100167 rdfs:label Triangular epiphysis of the proximal phalanx of the 3rd toe Driehoekige epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0001863 rdfs:label Toe clinodactyly Teenclinodactyly CANDIDATE -en nl HP:0001863 IAO:0000115 Bending or curvature of a toe in the tibial direction (i.e., towards the big toe) Bending or curvature of a toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED -en nl HP:0100166 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 3rd toe Vlekkerige calcificaties van de epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100166 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe NOT_TRANSLATED -en nl HP:0001864 rdfs:label Clinodactyly of the 5th toe Clinodactylie van de 5e teen CANDIDATE -en nl HP:0001864 IAO:0000115 Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe) Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED -en nl HP:0100169 rdfs:label Absent epiphysis of the distal phalanx of the 4th toe Afwezige epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0100168 rdfs:label Fragmented epiphyses Gefragmenteerde epifysen CANDIDATE -en nl HP:0100168 IAO:0000115 Fragmented appearance of the epiphyses Fragmented appearance of the epiphyses NOT_TRANSLATED -en nl HP:0100171 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 4th toe Kegel-vormige epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0100170 rdfs:label Bracket epiphysis of the distal phalanx of the 4th toe Haakvormige epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001868 rdfs:label Autoamputation of foot Auto-amputatie van de voet CANDIDATE -en nl HP:0001868 IAO:0000115 Spontaneous detachment of a foot from the body Spontaneous detachment of a foot from the body NOT_TRANSLATED -en nl HP:0100173 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 4th toe Fragmentatie van de epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001869 rdfs:label Deep plantar creases Diepe plantaire plooien CANDIDATE -en nl HP:0001869 IAO:0000115 The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot NOT_TRANSLATED -en nl HP:0100172 rdfs:label Enlarged epiphysis of the distal phalanx of the 4th toe Vergrote epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001870 rdfs:label Acroosteolysis of distal phalanges (feet) Acroosteolysis van de distale falangen (voeten) CANDIDATE -en nl HP:0100175 rdfs:label Ivory epiphysis of the distal phalanx of the 4th toe Ivoren epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001871 rdfs:label Abnormality of blood and blood-forming tissues Afwijking van bloed en bloed-vormende weefsels CANDIDATE -en nl HP:0001871 IAO:0000115 An abnormality of the hematopoietic system An abnormality of the hematopoietic system NOT_TRANSLATED -en nl HP:0100174 rdfs:label Irregular epiphysis of the distal phalanx of the 4th toe Onregelmatige epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001872 rdfs:label Abnormality of thrombocytes Abnormale morfologie van de trombocyten CANDIDATE -en nl HP:0001872 IAO:0000115 An abnormality of platelets An abnormality of platelets NOT_TRANSLATED -en nl HP:0100177 rdfs:label Small epiphysis of the distal phalanx of the 4th toe Kleine epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001873 rdfs:label Thrombocytopenia Trombocytopenie CANDIDATE -en nl HP:0001873 IAO:0000115 A reduction in the number of circulating thrombocytes A reduction in the number of circulating thrombocytes NOT_TRANSLATED -en nl HP:0100176 rdfs:label Pseudoepiphysis of the distal phalanx of the 4th toe Pseudo-epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001874 rdfs:label Abnormality of neutrophils Afwijking van de neutrofielen CANDIDATE -en nl HP:0001874 IAO:0000115 A neutrophil abnormality A neutrophil abnormality NOT_TRANSLATED -en nl HP:0100179 rdfs:label Triangular epiphysis of the distal phalanx of the 4th toe Driehoekige epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0001875 rdfs:label Neutropenia Neutropenie CANDIDATE -en nl HP:0001875 IAO:0000115 An abnormally low number of neutrophils in the peripheral blood An abnormally low number of neutrophils in the peripheral blood NOT_TRANSLATED -en nl HP:0100178 rdfs:label Stippling of the epiphysis of the distal phalanx of the 4th toe Vlekkerige calcificaties van de epifyse van de distale falanx van de 4e teen CANDIDATE -en nl HP:0100178 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe NOT_TRANSLATED -en nl HP:0001876 rdfs:label Pancytopenia Pancytopenie CANDIDATE -en nl HP:0001876 IAO:0000115 An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets) An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets) NOT_TRANSLATED -en nl HP:0100181 rdfs:label Bracket epiphysis of the middle phalanx of the 4th toe Haakvormige epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001877 rdfs:label Abnormal erythrocyte morphology Abnormale morfologie van de erytrocyten CANDIDATE -en nl HP:0001877 IAO:0000115 Any structural abnormality of erythrocytes (red-blood cells) Any structural abnormality of erythrocytes (red-blood cells) NOT_TRANSLATED -en nl HP:0100180 rdfs:label Absent epiphysis of the middle phalanx of the 4th toe Afwezige epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001878 rdfs:label Hemolytic anemia Hemolytische anemie CANDIDATE -en nl HP:0001878 IAO:0000115 A type of anemia caused by premature destruction of red blood cells (hemolysis) A type of anemia caused by premature destruction of red blood cells (hemolysis) NOT_TRANSLATED -en nl HP:0100183 rdfs:label Enlarged epiphysis of the middle phalanx of the 4th toe Vergrote epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001879 rdfs:label Abnormal eosinophil morphology Afwijking van de eosinofielen CANDIDATE -en nl HP:0001879 IAO:0000115 An abnormal count or structure of eosinophils An abnormal count or structure of eosinophils NOT_TRANSLATED -en nl HP:0100182 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 4th toe Kegel-vormige epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001880 rdfs:label Eosinophilia Eosinofilie CANDIDATE -en nl HP:0001880 IAO:0000115 Increased count of eosinophils in the blood Increased count of eosinophils in the blood NOT_TRANSLATED -en nl HP:0100185 rdfs:label Irregular epiphysis of the middle phalanx of the 4th toe Onregelmatige epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001881 rdfs:label Abnormal leukocyte morphology Abnormale morfologie van de leukocyten CANDIDATE -en nl HP:0001881 IAO:0000115 An abnormality of leukocytes An abnormality of leukocytes NOT_TRANSLATED -en nl HP:0100184 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 4th toe Fragmentatie van de epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001882 rdfs:label Leukopenia Leukopenie CANDIDATE -en nl HP:0001882 IAO:0000115 An abnormal decreased number of leukocytes in the blood An abnormal decreased number of leukocytes in the blood NOT_TRANSLATED -en nl HP:0100187 rdfs:label Pseudoepiphysis of the middle phalanx of the 4th toe Pseudo-epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0100187 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe NOT_TRANSLATED -en nl HP:0001883 rdfs:label Talipes Klompvoet CANDIDATE -en nl HP:0001883 IAO:0000115 A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus NOT_TRANSLATED -en nl HP:0100186 rdfs:label Ivory epiphysis of the middle phalanx of the 4th toe Ivoren epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001884 rdfs:label Talipes calcaneovalgus Talipes calcaneovalgus CANDIDATE -en nl HP:0001884 IAO:0000115 "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an ""up and out"" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg" "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an ""up and out"" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg" NOT_TRANSLATED -en nl HP:0100189 rdfs:label Stippling of the epiphysis of the middle phalanx of the 4th toe Vlekkerige calcificaties van de epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0100189 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe NOT_TRANSLATED -en nl HP:0001885 rdfs:label Short 2nd toe Korte tweede teen CANDIDATE -en nl HP:0001885 IAO:0000115 Underdevelopment (hypoplasia) of the second toe Underdevelopment (hypoplasia) of the second toe NOT_TRANSLATED -en nl HP:0100188 rdfs:label Small epiphysis of the middle phalanx of the 4th toe Kleine epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001886 rdfs:label Foot osteomyelitis Osteomyelitis van de voet CANDIDATE -en nl HP:0001886 IAO:0000115 An infection of bone of the foot An infection of bone of the foot NOT_TRANSLATED -en nl HP:0100191 rdfs:label Absent epiphysis of the proximal phalanx of the 4th toe Afwezig epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100190 rdfs:label Triangular epiphysis of the middle phalanx of the 4th toe Driehoekige epifyse van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0001888 rdfs:label Lymphopenia Lymfopenie CANDIDATE -en nl HP:0001888 IAO:0000115 A reduced number of lymphocytes in the blood A reduced number of lymphocytes in the blood NOT_TRANSLATED -en nl HP:0100193 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 4th toe Kegel-vormige epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001889 rdfs:label Megaloblastic anemia Megaloblastaire anemie CANDIDATE -en nl HP:0001889 IAO:0000115 Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts) Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts) NOT_TRANSLATED -en nl HP:0100192 rdfs:label Bracket epiphysis of the proximal phalanx of the 4th toe Haakvormige epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001890 rdfs:label Autoimmune hemolytic anemia Auto-immune hemolytische anemie CANDIDATE -en nl HP:0001890 IAO:0000115 An autoimmune form of hemolytic anemia An autoimmune form of hemolytic anemia NOT_TRANSLATED -en nl HP:0100195 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 4th toe Fragmentatie van de epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001891 rdfs:label Iron deficiency anemia Ijzergebreksanemie CANDIDATE -en nl HP:0100194 rdfs:label Enlarged epiphysis of the proximal phalanx of the 4th toe Vergrote epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001892 rdfs:label Abnormal bleeding Abnormale bloeding CANDIDATE -en nl HP:0001892 IAO:0000115 An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects NOT_TRANSLATED -en nl HP:0100197 rdfs:label Ivory epiphysis of the proximal phalanx of the 4th toe Ivoren epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100196 rdfs:label Irregular epiphysis of the proximal phalanx of the 4th toe Onregelmatige epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001894 rdfs:label Thrombocytosis Trombocytose CANDIDATE -en nl HP:0001894 IAO:0000115 Increased numbers of platelets in the peripheral blood Increased numbers of platelets in the peripheral blood NOT_TRANSLATED -en nl HP:0100199 rdfs:label Small epiphysis of the proximal phalanx of the 4th toe Kleine epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001895 rdfs:label Normochromic anemia Normochrome anemie CANDIDATE -en nl HP:0100198 rdfs:label Pseudoepiphysis of the proximal phalanx of the 4th toe Pseudo-epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100198 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe NOT_TRANSLATED -en nl HP:0001896 rdfs:label Reticulocytopenia Reticulocytopenie CANDIDATE -en nl HP:0001896 IAO:0000115 A reduced number of reticulocytes in the peripheral blood A reduced number of reticulocytes in the peripheral blood NOT_TRANSLATED -en nl HP:0100201 rdfs:label Triangular epiphysis of the proximal phalanx of the 4th toe Driehoekige epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0001897 rdfs:label Normocytic anemia Normocytaire anemie CANDIDATE -en nl HP:0001897 IAO:0000115 A kind of anemia in which the volume of the red blood cells is normal A kind of anemia in which the volume of the red blood cells is normal NOT_TRANSLATED -en nl HP:0100200 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 4th toe Vlekkerige calcificaties van de epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100200 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe NOT_TRANSLATED -en nl HP:0001898 rdfs:label Increased red blood cell mass Verhoogde massa rode bloed cellen CANDIDATE -en nl HP:0001898 IAO:0000115 The presence of an increased mass of red blood cells in the circulation The presence of an increased mass of red blood cells in the circulation NOT_TRANSLATED -en nl HP:0100203 rdfs:label Bracket epiphysis of the distal phalanx of the 5th toe Haakvormige epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0001899 rdfs:label Increased hematocrit Verhoogd hematocriet CANDIDATE -en nl HP:0001899 IAO:0000115 An elevation above the normal ratio of the volume of red blood cells to the total volume of blood An elevation above the normal ratio of the volume of red blood cells to the total volume of blood NOT_TRANSLATED -en nl HP:0100202 rdfs:label Absent epiphysis of the distal phalanx of the 5th toe Afwezige epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0001900 rdfs:label Increased hemoglobin Verhoogd hemoglobine CANDIDATE -en nl HP:0100205 rdfs:label Enlarged epiphysis of the distal phalanx of the 5th toe Vergrote epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0001901 rdfs:label Polycythemia Polycythemie CANDIDATE -en nl HP:0001901 IAO:0000115 Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal NOT_TRANSLATED -en nl HP:0100204 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 5th toe Kegel-vormige epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0001902 rdfs:label Giant platelets Reuze bloedplaatjes CANDIDATE -en nl HP:0001902 IAO:0000115 Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998) Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998) NOT_TRANSLATED -en nl HP:0100207 rdfs:label Irregular epiphysis of the distal phalanx of the 5th toe Onregelmatige epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0001903 rdfs:label Anemia Anemie CANDIDATE -en nl HP:0001903 IAO:0000115 A reduction in erythrocytes volume or hemoglobin concentration A reduction in erythrocytes volume or hemoglobin concentration NOT_TRANSLATED -en nl HP:0100206 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 5th toe Fragmentatie van de epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0001904 rdfs:label Neutropenia in presence of anti-neutropil antibodies Auto-immune neutropenie CANDIDATE -en nl HP:0001904 IAO:0000115 A type of neutropenia that is observed in the presence of granulocyte-specific antibodies A type of neutropenia that is observed in the presence of granulocyte-specific antibodies NOT_TRANSLATED -en nl HP:0100209 rdfs:label Pseudoepiphysis of the distal phalanx of the 5th toe Pseudo-epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0001905 rdfs:label Congenital thrombocytopenia Congenitale trombocytopenie CANDIDATE -en nl HP:0001905 IAO:0000115 Thrombocytopenia with congenital onset Thrombocytopenia with congenital onset NOT_TRANSLATED -en nl HP:0100208 rdfs:label Ivory epiphysis of the distal phalanx of the 5th toe Ivoren epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100211 rdfs:label Stippling of the epiphysis of the distal phalanx of the 5th toe Vlekkerige calcificaties van de epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100211 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0001907 rdfs:label Thromboembolism Trombo-embolisme CANDIDATE -en nl HP:0001907 IAO:0000115 The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site NOT_TRANSLATED -en nl HP:0100210 rdfs:label Small epiphysis of the distal phalanx of the 5th toe Kleine epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0001908 rdfs:label Hypoplastic anemia Hypoplastische anemie CANDIDATE -en nl HP:0001908 IAO:0000115 Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia NOT_TRANSLATED -en nl HP:0100213 rdfs:label Absent epiphysis of the middle phalanx of the 5th toe Afwezige epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0001909 rdfs:label Leukemia Leukemie CANDIDATE -en nl HP:0001909 IAO:0000115 A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes NOT_TRANSLATED -en nl HP:0100212 rdfs:label Triangular epiphysis of the distal phalanx of the 5th toe Driehoekige epifyse van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100215 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 5th toe Kegel-vormige epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0001911 rdfs:label Abnormal granulocyte morphology Afwijking van de granulocyten CANDIDATE -en nl HP:0001911 IAO:0000115 Any structural abnormality or abnormal count of granulocytes Any structural abnormality or abnormal count of granulocytes NOT_TRANSLATED -en nl HP:0100214 rdfs:label Bracket epiphysis of the middle phalanx of the 5th toe Haakvormige epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0001912 rdfs:label Abnormal basophil morphology Afwijking van de basofielen CANDIDATE -en nl HP:0001912 IAO:0000115 Any structural abnormality or abnormal count of basophils Any structural abnormality or abnormal count of basophils NOT_TRANSLATED -en nl HP:0100217 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 5th toe Fragmentatie van de epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0001913 rdfs:label Granulocytopenia Granulocytopenie CANDIDATE -en nl HP:0001913 IAO:0000115 An abnormally reduced number of granulocytes in the blood An abnormally reduced number of granulocytes in the blood NOT_TRANSLATED -en nl HP:0100216 rdfs:label Enlarged epiphysis of the middle phalanx of the 5th toe Vergrote epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100219 rdfs:label Ivory epiphysis of the middle phalanx of the 5th toe Ivoren epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0001915 rdfs:label Aplastic anemia Aplastische anemie CANDIDATE -en nl HP:0001915 IAO:0000115 Aplastic anemia is defined as pancytopenia with a hypocellular marrow Aplastic anemia is defined as pancytopenia with a hypocellular marrow NOT_TRANSLATED -en nl HP:0100218 rdfs:label Irregular epiphysis of the middle phalanx of the 5th toe Onregelmatige epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100221 rdfs:label Small epiphysis of the middle phalanx of the 5th toe Kleine epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0001917 rdfs:label Renal amyloidosis Renale amyloidose CANDIDATE -en nl HP:0001917 IAO:0000115 A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856) A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856) NOT_TRANSLATED -en nl HP:0100220 rdfs:label Pseudoepiphysis of the middle phalanx of the 5th toe Pseudo-epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100220 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe NOT_TRANSLATED -en nl HP:0100223 rdfs:label Triangular epiphysis of the middle phalanx of the 5th toe Driehoekige epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0001919 rdfs:label Acute kidney injury Acute nier verwonding CANDIDATE -en nl HP:0001919 IAO:0000115 Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia) Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia) NOT_TRANSLATED -en nl HP:0100222 rdfs:label Stippling of the epiphysis of the middle phalanx of the 5th toe Vlekkerige calcificaties van de epifyse van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100222 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0001920 rdfs:label Renal artery stenosis Renaal arterie stenose CANDIDATE -en nl HP:0001920 IAO:0000115 The presence of stenosis of the renal artery The presence of stenosis of the renal artery NOT_TRANSLATED -en nl HP:0100225 rdfs:label Bracket epiphysis of the proximal phalanx of the 5th toe Haakvormige epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100224 rdfs:label Absent epiphysis of the proximal phalanx of the 5th toe Afwezig epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0001922 rdfs:label Vacuolated lymphocytes Gevacuoliseerde lymfocyten CANDIDATE -en nl HP:0001922 IAO:0000115 The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm NOT_TRANSLATED -en nl HP:0100227 rdfs:label Enlarged epiphysis of the proximal phalanx of the 5th toe Vergrote epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0001923 rdfs:label Reticulocytosis Reticulocytose CANDIDATE -en nl HP:0001923 IAO:0000115 An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation NOT_TRANSLATED -en nl HP:0100226 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 5th toe Kegel-vormige epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0001924 rdfs:label Sideroblastic anemia Sideroblastaire anemie CANDIDATE -en nl HP:0001924 IAO:0000115 Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining) Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining) NOT_TRANSLATED -en nl HP:0100229 rdfs:label Irregular epiphysis of the proximal phalanx of the 5th toe Onregelmatige epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100228 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 5th toe Fragmentatie van de epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100231 rdfs:label Pseudoepiphysis of the proximal phalanx of the 5th toe Pseudo-epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100231 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe NOT_TRANSLATED -en nl HP:0001927 rdfs:label Acanthocytosis Acanthocytose CANDIDATE -en nl HP:0001927 IAO:0000115 Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars NOT_TRANSLATED -en nl HP:0100230 rdfs:label Ivory epiphysis of the proximal phalanx of the 5th toe Ivoren epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0001928 rdfs:label Abnormality of coagulation Afwijking van de coagluatie CANDIDATE -en nl HP:0001928 IAO:0000115 An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot NOT_TRANSLATED -en nl HP:0100233 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 5th toe Vlekkerige calcificaties van de epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100233 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0001929 rdfs:label Reduced factor XI activity Verminderde activiteit van factor XI CANDIDATE -en nl HP:0001929 IAO:0000115 Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX NOT_TRANSLATED -en nl HP:0100232 rdfs:label Small epiphysis of the proximal phalanx of the 5th toe Kleine epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0001930 rdfs:label Nonspherocytic hemolytic anemia Nonsperocytische hemolytische anemie CANDIDATE -en nl HP:0100235 rdfs:label Synostosis involving bones of the toes Synostose waarbij de botten van de tenen betrokken zijn CANDIDATE -en nl HP:0001931 rdfs:label Hypochromic anemia Hypochrome anemie CANDIDATE -en nl HP:0001931 IAO:0000115 A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes NOT_TRANSLATED -en nl HP:0100234 rdfs:label Triangular epiphysis of the proximal phalanx of the 5th toe Driehoekige epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100237 rdfs:label Proximal foot symphalangism Symfalangisme van de proximale voet CANDIDATE -en nl HP:0001933 rdfs:label Subcutaneous hemorrhage Subcutane bloeding CANDIDATE -en nl HP:0001933 IAO:0000115 This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses) This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses) NOT_TRANSLATED -en nl HP:0001934 rdfs:label Persistent bleeding after trauma Persisterende bloeding na trauma CANDIDATE -en nl HP:0001935 rdfs:label Microcytic anemia Microcytaire anemie CANDIDATE -en nl HP:0001935 IAO:0000115 A kind of anemia in which the volume of the red blood cells is reduced A kind of anemia in which the volume of the red blood cells is reduced NOT_TRANSLATED -en nl HP:0100238 rdfs:label Synostosis involving bones of the upper limbs Synostose van de botten van de bovenste ledematen CANDIDATE -en nl HP:0100238 IAO:0000115 An abnormal union between bones or parts of bones of the upper limbs An abnormal union between bones or parts of bones of the upper limbs NOT_TRANSLATED -en nl HP:0100241 rdfs:label Ectopic respiratory mucosa Ectopische respiratoire mucosa CANDIDATE -en nl HP:0100241 IAO:0000115 Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations NOT_TRANSLATED -en nl HP:0001937 rdfs:label Microangiopathic hemolytic anemia Microangiopatische hemolytische anemie CANDIDATE -en nl HP:0100240 rdfs:label Synostosis of joints Synostose van de gewrichten CANDIDATE -en nl HP:0100240 IAO:0000115 The abnormal fusion of neighboring bones across a joint The abnormal fusion of neighboring bones across a joint NOT_TRANSLATED -en nl HP:0100243 rdfs:label Leiomyosarcoma Leiomyosarcoom CANDIDATE -en nl HP:0100243 IAO:0000115 A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma NOT_TRANSLATED -en nl HP:0001939 rdfs:label Abnormality of metabolism/homeostasis Afwijking van het metabolisme/homeostase CANDIDATE -en nl HP:0100242 rdfs:label Sarcoma Sarcoom CANDIDATE -en nl HP:0100242 IAO:0000115 A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant NOT_TRANSLATED -en nl HP:0100245 rdfs:label Desmoid tumors Desmoïde tumoren CANDIDATE -en nl HP:0100245 IAO:0000115 Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine NOT_TRANSLATED -en nl HP:0001941 rdfs:label Acidosis Acidose CANDIDATE -en nl HP:0001941 IAO:0000115 Abnormal acid accumulation or depletion of base Abnormal acid accumulation or depletion of base NOT_TRANSLATED -en nl HP:0100244 rdfs:label Fibrosarcoma Fibrosarcoom CANDIDATE -en nl HP:0100244 IAO:0000115 A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells NOT_TRANSLATED -en nl HP:0001942 rdfs:label Metabolic acidosis Metabole acidose CANDIDATE -en nl HP:0001942 IAO:0000115 Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause NOT_TRANSLATED -en nl HP:0100247 rdfs:label Recurrent singultus Recidiverende hik CANDIDATE -en nl HP:0100247 IAO:0000115 A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc NOT_TRANSLATED -en nl HP:0001943 rdfs:label Hypoglycemia Hypoglykemie CANDIDATE -en nl HP:0001943 IAO:0000115 A decreased concentration of glucose in the blood A decreased concentration of glucose in the blood NOT_TRANSLATED -en nl HP:0100246 rdfs:label Osteoma Osteoom CANDIDATE -en nl HP:0100246 IAO:0000115 Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant NOT_TRANSLATED -en nl HP:0001944 rdfs:label Dehydration Uitdroging CANDIDATE -en nl HP:0100249 rdfs:label Calcification of muscles Calcificatie van spieren CANDIDATE -en nl HP:0100249 IAO:0000115 Deposition of calcium salts in muscle tissue Deposition of calcium salts in muscle tissue NOT_TRANSLATED -en nl HP:0001945 rdfs:label Fever Koorts CANDIDATE -en nl HP:0001945 IAO:0000115 Body temperature elevated above the normal range Body temperature elevated above the normal range NOT_TRANSLATED -en nl HP:0100248 rdfs:label Hemiballismus Hemiballisme CANDIDATE -en nl HP:0100248 IAO:0000115 Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements NOT_TRANSLATED -en nl HP:0001946 rdfs:label Ketosis Ketose CANDIDATE -en nl HP:0001946 IAO:0000115 Presence of elevated levels of ketone bodies in the body Presence of elevated levels of ketone bodies in the body NOT_TRANSLATED -en nl HP:0100251 rdfs:label Multiple central nervous system lipomas Lipomen van het centrale zenuwstelsel CANDIDATE -en nl HP:0100251 IAO:0000115 The presence of mulitple lipomas located in the central nervous system The presence of mulitple lipomas located in the central nervous system NOT_TRANSLATED -en nl HP:0001947 rdfs:label Renal tubular acidosis Renale tubulaire acidose CANDIDATE -en nl HP:0001947 IAO:0000115 Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis NOT_TRANSLATED -en nl HP:0100250 rdfs:label Meningeal calcification Meningeale calcificatie CANDIDATE -en nl HP:0100250 IAO:0000115 Calcium deposition affecting the Meninges Calcium deposition affecting the Meninges NOT_TRANSLATED -en nl HP:0001948 rdfs:label Alkalosis Alkalose CANDIDATE -en nl HP:0001948 IAO:0000115 Depletion of acid or accumulation base in the body fluids Depletion of acid or accumulation base in the body fluids NOT_TRANSLATED -en nl HP:0100253 rdfs:label Abnormality of the medullary cavity of the long bones Afwijking van de medulaire holte van de lange botten CANDIDATE -en nl HP:0100253 IAO:0000115 An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored NOT_TRANSLATED -en nl HP:0001949 rdfs:label Hypokalemic alkalosis Hypokalemische alkalose CANDIDATE -en nl HP:0100252 rdfs:label Diaphyseal dysplasia Diafysaire dysplasie CANDIDATE -en nl HP:0001950 rdfs:label Respiratory alkalosis Respiratoire alkalose CANDIDATE -en nl HP:0001950 IAO:0000115 Alkalosis due to excess loss of carbon dioxide from the body Alkalosis due to excess loss of carbon dioxide from the body NOT_TRANSLATED -en nl HP:0100255 rdfs:label Metaphyseal dysplasia Metafysaire dysplasie CANDIDATE -en nl HP:0100255 IAO:0000115 The presence of dysplastic regions in metaphyseal regions The presence of dysplastic regions in metaphyseal regions NOT_TRANSLATED -en nl HP:0001951 rdfs:label Episodic ammonia intoxication Episodische ammoniak intoxicatie CANDIDATE -en nl HP:0100254 rdfs:label Stenosis of the medullary cavity of the long bones Stenose van de medullaire holte van de lange botten CANDIDATE -en nl HP:0001952 rdfs:label Glucose intolerance Gestoorde glucose tolerantie CANDIDATE -en nl HP:0001952 IAO:0000115 Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM) Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM) NOT_TRANSLATED -en nl HP:0100257 rdfs:label Ectrodactyly Ectrodactylie CANDIDATE -en nl HP:0100257 IAO:0000115 A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet NOT_TRANSLATED -en nl HP:0001953 rdfs:label Diabetic ketoacidosis Diabetische ketoacidose CANDIDATE -en nl HP:0001953 IAO:0000115 A type of diabetic metabolic abnormality with an accumulation of ketone bodies A type of diabetic metabolic abnormality with an accumulation of ketone bodies NOT_TRANSLATED -en nl HP:0100256 rdfs:label Senile plaques Seniele plaques CANDIDATE -en nl HP:0100256 IAO:0000115 Senile plaques are extracellular deposits of amyloid in the gray matter of the brain Senile plaques are extracellular deposits of amyloid in the gray matter of the brain NOT_TRANSLATED -en nl HP:0001954 rdfs:label Recurrent fever Episodische koorts CANDIDATE -en nl HP:0001954 IAO:0000115 Periodic (episodic or recurrent) bouts of fever Periodic (episodic or recurrent) bouts of fever NOT_TRANSLATED -en nl HP:0100259 rdfs:label Postaxial polydactyly Postaxiale polydactylie CANDIDATE -en nl HP:0100259 IAO:0000115 A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe NOT_TRANSLATED -en nl HP:0001955 rdfs:label Unexplained fevers Koorts eci CANDIDATE -en nl HP:0001955 IAO:0000115 Episodes of fever for which no infectious cause can be identified Episodes of fever for which no infectious cause can be identified NOT_TRANSLATED -en nl HP:0100258 rdfs:label Preaxial polydactyly Pre-axiale polydactylie CANDIDATE -en nl HP:0100258 IAO:0000115 A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe NOT_TRANSLATED -en nl HP:0001956 rdfs:label Truncal obesity Truncale obesitas CANDIDATE -en nl HP:0001956 IAO:0000115 Obesity located preferentially in the trunk of the body as opposed to the extremities Obesity located preferentially in the trunk of the body as opposed to the extremities NOT_TRANSLATED -en nl HP:0100261 rdfs:label Abnormal tendon morphology Abnormale pees morfologie CANDIDATE -en nl HP:0100261 IAO:0000115 An abnormality of the structure or form of the tendons, also often called sinews An abnormality of the structure or form of the tendons, also often called sinews NOT_TRANSLATED -en nl HP:0100260 rdfs:label Mesoaxial polydactyly Mesoaxiale polydactylie CANDIDATE -en nl HP:0100260 IAO:0000115 The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly NOT_TRANSLATED -en nl HP:0001958 rdfs:label Nonketotic hypoglycemia Nonketotische hypoglykemie CANDIDATE -en nl HP:0100263 rdfs:label Distal symphalangism Distaal symfalangisme CANDIDATE -en nl HP:0001959 rdfs:label Polydipsia Polydipsie CANDIDATE -en nl HP:0001959 IAO:0000115 Excessive thirst manifested by excessive fluid intake Excessive thirst manifested by excessive fluid intake NOT_TRANSLATED -en nl HP:0100262 rdfs:label Synostosis involving digits Synostose waarbij vingers betrokken zijn CANDIDATE -en nl HP:0001960 rdfs:label Hypokalemic metabolic alkalosis Hypokalemische metabole alkalose CANDIDATE -en nl HP:0100265 rdfs:label Synostosis of metacarpals/metatarsals Synostose van de metacarpalen/metatarsalen CANDIDATE -en nl HP:0001961 rdfs:label Hypoplastic heart Hypoplastisch hart CANDIDATE -en nl HP:0100264 rdfs:label Proximal symphalangism Proximaal symfalangisme CANDIDATE -en nl HP:0001962 rdfs:label Palpitations Hartkloppingen CANDIDATE -en nl HP:0001962 IAO:0000115 A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia NOT_TRANSLATED -en nl HP:0100267 rdfs:label Lip pit Lip pit CANDIDATE -en nl HP:0100267 IAO:0000115 A depression located on a lip A depression located on a lip NOT_TRANSLATED -en nl HP:0001963 rdfs:label Abnormal speech discrimination Abnormale spraak discriminatie CANDIDATE -en nl HP:0001963 IAO:0000115 A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss NOT_TRANSLATED -en nl HP:0100266 rdfs:label Synostosis of carpals/tarsals Synostose van de carpalia/tarsalen CANDIDATE -en nl HP:0100266 IAO:0000115 The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus NOT_TRANSLATED -en nl HP:0001964 rdfs:label Aplasia/Hypoplasia of metatarsal bones Aplasie/hypoplasie van metatarsale botten CANDIDATE -en nl HP:0001964 IAO:0000115 Absence or underdevelopment of the metatarsal bones Absence or underdevelopment of the metatarsal bones NOT_TRANSLATED -en nl HP:0100269 rdfs:label Paramedian lip pit Paramediane lip pit CANDIDATE -en nl HP:0100269 IAO:0000115 Depression located paramedially on the vermilion of a lip Depression located paramedially on the vermilion of a lip NOT_TRANSLATED -en nl HP:0001965 rdfs:label Abnormal scalp morphology Afwijking van de scalp CANDIDATE -en nl HP:0001965 IAO:0000115 Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows NOT_TRANSLATED -en nl HP:0100268 rdfs:label Upper lip pit Bovenste lip pit CANDIDATE -en nl HP:0100268 IAO:0000115 Depression located on the vermilion of the upper lip, usually paramedian Depression located on the vermilion of the upper lip, usually paramedian NOT_TRANSLATED -en nl HP:0001966 rdfs:label Abnormal glomerular mesangium morphology Mesangiale afwijking CANDIDATE -en nl HP:0001966 IAO:0000115 An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries NOT_TRANSLATED -en nl HP:0100271 rdfs:label Hyponasal speech Hyponasale spraak CANDIDATE -en nl HP:0100271 IAO:0000115 Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion NOT_TRANSLATED -en nl HP:0001967 rdfs:label Diffuse mesangial sclerosis Diffuse mesangiale sclerose CANDIDATE -en nl HP:0001967 IAO:0000115 Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion NOT_TRANSLATED -en nl HP:0100270 rdfs:label Abnormality of dorsoventral patterning of the limbs Afwijking van de dorsoventrale patroonvorming van de ledematen CANDIDATE -en nl HP:0100270 IAO:0000115 An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs NOT_TRANSLATED -en nl HP:0100273 rdfs:label Neoplasm of the colon Neoplasma van de darm CANDIDATE -en nl HP:0001969 rdfs:label Abnormal tubulointerstitial morphology Tubulointerstitiële abnormaliteit CANDIDATE -en nl HP:0001969 IAO:0000115 An abnormality that involves the tubules and interstitial tissue of the kidney An abnormality that involves the tubules and interstitial tissue of the kidney NOT_TRANSLATED -en nl HP:0100272 rdfs:label Branchial sinus Branchiale sinus CANDIDATE -en nl HP:0100272 IAO:0000115 A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal NOT_TRANSLATED -en nl HP:0001970 rdfs:label Tubulointerstitial nephritis Tubulointerstitiële nefritis CANDIDATE -en nl HP:0001970 IAO:0000115 A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules NOT_TRANSLATED -en nl HP:0100275 rdfs:label Diffuse cerebellar atrophy Diffuse cerebellaire atrofie CANDIDATE -en nl HP:0100275 IAO:0000115 Diffuse unlocalised atrophy affecting the cerebellum Diffuse unlocalised atrophy affecting the cerebellum NOT_TRANSLATED -en nl HP:0001971 rdfs:label Hypersplenism Hypersplenisme CANDIDATE -en nl HP:0001971 IAO:0000115 A malfunctioning of the spleen in which it prematurely destroys red blood cells A malfunctioning of the spleen in which it prematurely destroys red blood cells NOT_TRANSLATED -en nl HP:0100274 rdfs:label Gustatory lacrimation Traanproductie bij smaak CANDIDATE -en nl HP:0100274 IAO:0000115 Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal NOT_TRANSLATED -en nl HP:0001972 rdfs:label Macrocytic anemia Macrocytaire anemie CANDIDATE -en nl HP:0001972 IAO:0000115 A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH) A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH) NOT_TRANSLATED -en nl HP:0100277 rdfs:label Periauricular skin pits Preauriculaire huid pits CANDIDATE -en nl HP:0100277 IAO:0000115 Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit NOT_TRANSLATED -en nl HP:0001973 rdfs:label Autoimmune thrombocytopenia Auto-immune trombocytopenie CANDIDATE -en nl HP:0001973 IAO:0000115 The presence of thrombocytopenia in combination with detection of antiplatelet antibodies The presence of thrombocytopenia in combination with detection of antiplatelet antibodies NOT_TRANSLATED -en nl HP:0100276 rdfs:label Skin pit Huid pit CANDIDATE -en nl HP:0100276 IAO:0000115 A small, skin-lined tract that leads from the surface to deep within the tissues A small, skin-lined tract that leads from the surface to deep within the tissues NOT_TRANSLATED -en nl HP:0001974 rdfs:label Leukocytosis Leukocytose CANDIDATE -en nl HP:0001974 IAO:0000115 An abnormal increase in the number of leukocytes in the blood An abnormal increase in the number of leukocytes in the blood NOT_TRANSLATED -en nl HP:0100279 rdfs:label Ulcerative colitis Colitis ulcerosa CANDIDATE -en nl HP:0100279 IAO:0000115 A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon NOT_TRANSLATED -en nl HP:0001975 rdfs:label Decreased platelet glycoprotein IIb-IIIa Verminderde bloedplaatje glycoproteïne IIb-IIIa CANDIDATE -en nl HP:0001975 IAO:0000115 Decreased cell membrane concentration of glycoprotein IIb-IIIa Decreased cell membrane concentration of glycoprotein IIb-IIIa NOT_TRANSLATED -en nl HP:0001976 rdfs:label Reduced antithrombin III activity Verminderde activiteit van antitrombine III CANDIDATE -en nl HP:0001976 IAO:0000115 An abnormality of coagulation related to a decreased concentration of antithrombin-III An abnormality of coagulation related to a decreased concentration of antithrombin-III NOT_TRANSLATED -en nl HP:0100281 rdfs:label Chronic colitis Chronische colitis CANDIDATE -en nl HP:0100281 IAO:0000115 A chronic inflammatory disease of the large intestine (colon, cecum and rectum) A chronic inflammatory disease of the large intestine (colon, cecum and rectum) NOT_TRANSLATED -en nl HP:0001977 rdfs:label Abnormal thrombosis Abnormale trombose CANDIDATE -en nl HP:0001977 IAO:0000115 Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis) Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis) NOT_TRANSLATED -en nl HP:0100280 rdfs:label Crohn's disease Ziekte van Crohn CANDIDATE -en nl HP:0100280 IAO:0000115 A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation NOT_TRANSLATED -en nl HP:0001978 rdfs:label Extramedullary hematopoiesis Extramedullary Haematopoiese CANDIDATE -en nl HP:0001978 IAO:0000115 The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms NOT_TRANSLATED -en nl HP:0100283 rdfs:label EMG: continuous motor unit activity at rest EMG: continu motor eenheid activiteit in rust CANDIDATE -en nl HP:0100283 IAO:0000115 Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles NOT_TRANSLATED -en nl HP:0100282 rdfs:label Acute colitis Acute colitis CANDIDATE -en nl HP:0100282 IAO:0000115 An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum) An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum) NOT_TRANSLATED -en nl HP:0001980 rdfs:label Megaloblastic bone marrow Megaloblastair beenmerg CANDIDATE -en nl HP:0001980 IAO:0000115 Abnormal increased number of megaloblasts in the bone marrow Abnormal increased number of megaloblasts in the bone marrow NOT_TRANSLATED -en nl HP:0100285 rdfs:label EMG: impaired neuromuscular transmission EMG: verwzakte neuromusculaire transmissie CANDIDATE -en nl HP:0100285 IAO:0000115 An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP) An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP) NOT_TRANSLATED -en nl HP:0001981 rdfs:label Schistocytosis Schistocytose CANDIDATE -en nl HP:0001981 IAO:0000115 The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood NOT_TRANSLATED -en nl HP:0100284 rdfs:label EMG: myotonic discharges EMG: myotone ontladingen CANDIDATE -en nl HP:0100284 IAO:0000115 High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound NOT_TRANSLATED -en nl HP:0001982 rdfs:label Sea-blue histiocytosis Zee-blauwe histiocytose CANDIDATE -en nl HP:0001982 IAO:0000115 An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa NOT_TRANSLATED -en nl HP:0100287 rdfs:label EMG: slow motor conduction EMG: trage motor geleiding CANDIDATE -en nl HP:0100287 IAO:0000115 The presence of reduced conduction velocity of motor nerves on electromyography The presence of reduced conduction velocity of motor nerves on electromyography NOT_TRANSLATED -en nl HP:0001983 rdfs:label Reduced lymphocyte surface expression of CD43 Verminderde lymfocyten oppervlakte expressie van CD43 CANDIDATE -en nl HP:0001983 IAO:0000115 A reduction in the expression of CD43 on the cell surface of lymphocytes A reduction in the expression of CD43 on the cell surface of lymphocytes NOT_TRANSLATED -en nl HP:0001984 rdfs:label Intolerance to protein Intolerantie voor eiwit CANDIDATE -en nl HP:0100289 rdfs:label Abnormality of pattern reversal visual evoked potentials Abnormality of pattern reversal visual evoked potentials NOT_TRANSLATED -en nl HP:0001985 rdfs:label Hypoketotic hypoglycemia Hypoketotische hypoglykemie CANDIDATE -en nl HP:0001985 IAO:0000115 A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies NOT_TRANSLATED -en nl HP:0100288 rdfs:label EMG: myokymic discharges EMG: myokymische ontladingen CANDIDATE -en nl HP:0100288 IAO:0000115 The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding NOT_TRANSLATED -en nl HP:0001986 rdfs:label Hypertonic dehydration Hypertonische dehydratie CANDIDATE -en nl HP:0100291 rdfs:label Abnormality of central somatosensory evoked potentials Afwijking van centrale somatosensorische opgewekte potentialen CANDIDATE -en nl HP:0001987 rdfs:label Hyperammonemia Hyperammonemie CANDIDATE -en nl HP:0001987 IAO:0000115 An increased concentration of ammonia in the blood An increased concentration of ammonia in the blood NOT_TRANSLATED -en nl HP:0100290 rdfs:label Abnormality of peripheral somatosensory evoked potentials Afwijking van perifere somatosensorische opgewekte potentialen CANDIDATE -en nl HP:0001988 rdfs:label Recurrent hypoglycemia Terugkerende hypoglykemie CANDIDATE -en nl HP:0001988 IAO:0000115 Recurrent episodes of decreased concentration of glucose in the blood Recurrent episodes of decreased concentration of glucose in the blood NOT_TRANSLATED -en nl HP:0100293 rdfs:label Hypertrophied muscle fibers Spiervezelhypertrofie CANDIDATE -en nl HP:0100293 IAO:0000115 The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies NOT_TRANSLATED -en nl HP:0001989 rdfs:label Fetal akinesia sequence Foetale akinesie sequentie CANDIDATE -en nl HP:0001989 IAO:0000115 Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia) Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia) NOT_TRANSLATED -en nl HP:0100292 rdfs:label Amyloidosis of peripheral nerves Amyloidose van de perifere zenuwen CANDIDATE -en nl HP:0100292 IAO:0000115 The presence of amyloid deposition in the nerves of the peripheral nervous system The presence of amyloid deposition in the nerves of the peripheral nervous system NOT_TRANSLATED -en nl HP:0100295 rdfs:label Muscle fiber atrophy Spiervezelatrofie CANDIDATE -en nl HP:0001991 rdfs:label Aplasia/Hypoplasia of toe Aplasie/hypoplasie van teen CANDIDATE -en nl HP:0001991 IAO:0000115 Absence or hypoplasia of toes Absence or hypoplasia of toes NOT_TRANSLATED -en nl HP:0001992 rdfs:label Organic aciduria Organische acidurie CANDIDATE -en nl HP:0001992 IAO:0000115 Excretion of non-amino organic acids in urine Excretion of non-amino organic acids in urine NOT_TRANSLATED -en nl HP:0100297 rdfs:label Increased endomysial connective tissue Toegenomen endomysiale bindweefsel CANDIDATE -en nl HP:0100297 IAO:0000115 An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium NOT_TRANSLATED -en nl HP:0001993 rdfs:label Ketoacidosis Ketoacidose CANDIDATE -en nl HP:0001993 IAO:0000115 Acidosis resulting from accumulation of ketone bodies Acidosis resulting from accumulation of ketone bodies NOT_TRANSLATED -en nl HP:0100296 rdfs:label Perifascicular muscle fiber atrophy Perifasciculaire spiervezel atrofie CANDIDATE -en nl HP:0001994 rdfs:label Renal Fanconi syndrome Renaal Fanconi syndroom CANDIDATE -en nl HP:0001994 IAO:0000115 An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water NOT_TRANSLATED -en nl HP:0100299 rdfs:label Muscle fiber inclusion bodies Spiervezel inclusielichaampjes CANDIDATE -en nl HP:0001995 rdfs:label Hyperchloremic acidosis Hyperchloremische acidose CANDIDATE -en nl HP:0001995 IAO:0000115 Acidosis (pH less than 7.35) that develops with an increase in ionic chloride Acidosis (pH less than 7.35) that develops with an increase in ionic chloride NOT_TRANSLATED -en nl HP:0100298 rdfs:label Motheaten muscle fibers Motheaten spiervezels CANDIDATE -en nl HP:0001996 rdfs:label Chronic metabolic acidosis Chronische metabole acidose CANDIDATE -en nl HP:0001996 IAO:0000115 Longstanding metabolic acidosis Longstanding metabolic acidosis NOT_TRANSLATED -en nl HP:0100301 rdfs:label Muscle fiber tubular inclusions Spiervezel tubulaire inclusies CANDIDATE -en nl HP:0100301 IAO:0000115 Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities NOT_TRANSLATED -en nl HP:0001997 rdfs:label Gout Jicht CANDIDATE -en nl HP:0001997 IAO:0000115 Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues NOT_TRANSLATED -en nl HP:0100300 rdfs:label Desmin bodies Desmin bodies CANDIDATE -en nl HP:0001998 rdfs:label Neonatal hypoglycemia Neonatale hypoglykemie CANDIDATE -en nl HP:0100303 rdfs:label Muscle fiber cytoplasmatic inclusion bodies Spiervezel cytoplasmatische inclusielichaampjes CANDIDATE -en nl HP:0100303 IAO:0000115 The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins NOT_TRANSLATED -en nl HP:0001999 rdfs:label Abnormal facial shape Abnormale vorm van het gezicht CANDIDATE -en nl HP:0001999 IAO:0000115 An abnormal morphology (form) of the face or its components An abnormal morphology (form) of the face or its components NOT_TRANSLATED -en nl HP:0100302 rdfs:label Muscle fiber tubuloreticular inclusions Spiervezel tubuloreticulaire inclusielichaampjes CANDIDATE -en nl HP:0002000 rdfs:label Short columella Korte columella CANDIDATE -en nl HP:0002000 IAO:0000115 Reduced distance from the anterior border of the naris to the subnasale Reduced distance from the anterior border of the naris to the subnasale NOT_TRANSLATED -en nl HP:0100305 rdfs:label Ring fibers Ring vezels CANDIDATE -en nl HP:0100305 IAO:0000115 Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation NOT_TRANSLATED -en nl HP:0100304 rdfs:label Muscle fiber intranuclear inclusion bodies Spiervezel intranucleaire inclusielichaampjes CANDIDATE -en nl HP:0100304 IAO:0000115 The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins NOT_TRANSLATED -en nl HP:0002002 rdfs:label Deep philtrum Diep filtrum CANDIDATE -en nl HP:0002002 IAO:0000115 Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border NOT_TRANSLATED -en nl HP:0100307 rdfs:label Cerebellar hemisphere hypoplasia Hypoplasie van de vermis CANDIDATE -en nl HP:0002003 rdfs:label Large forehead Groot verhoofd CANDIDATE -en nl HP:0100306 rdfs:label Muscle fiber hyaline bodies Spiervezel hyaline inclusielichaampjes CANDIDATE -en nl HP:0100309 rdfs:label Subdural hemorrhage Subdurale bloeding CANDIDATE -en nl HP:0100309 IAO:0000115 Hemorrhage occurring between the dura mater and the arachnoid mater Hemorrhage occurring between the dura mater and the arachnoid mater NOT_TRANSLATED -en nl HP:0100308 rdfs:label Cerebral cortical hemiatrophy Cerebrale corticale hemiatrophy CANDIDATE -en nl HP:0100308 IAO:0000115 Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle NOT_TRANSLATED -en nl HP:0002006 rdfs:label Facial cleft Faciale cleft CANDIDATE -en nl HP:0002006 IAO:0000115 A congenital malformation with a cleft (gap or opening) in the face A congenital malformation with a cleft (gap or opening) in the face NOT_TRANSLATED -en nl HP:0100311 rdfs:label Cerebral ventricular adhesions Cerebrale ventriculaire adhesies CANDIDATE -en nl HP:0100311 IAO:0000115 Bands of scar-like tisssue that hve formed within a cerebral ventricle Bands of scar-like tisssue that hve formed within a cerebral ventricle NOT_TRANSLATED -en nl HP:0002007 rdfs:label Frontal bossing Frontal bossing CANDIDATE -en nl HP:0002007 IAO:0000115 Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline NOT_TRANSLATED -en nl HP:0100310 rdfs:label Epidural hemorrhage Epidurale bloeding CANDIDATE -en nl HP:0100310 IAO:0000115 Hemorrhage occurring between the dura mater and the skull Hemorrhage occurring between the dura mater and the skull NOT_TRANSLATED -en nl HP:0100313 rdfs:label Cerebral granulomatosis Cerebrale granulomatose CANDIDATE -en nl HP:0100313 IAO:0000115 Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells NOT_TRANSLATED -en nl HP:0002009 rdfs:label Potter facies Potter aangezicht CANDIDATE -en nl HP:0002009 IAO:0000115 A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose NOT_TRANSLATED -en nl HP:0100312 rdfs:label Cerebral germinoma Cerebraal germinoom CANDIDATE -en nl HP:0100312 IAO:0000115 The presence of a germ cell tumor of the cerebrum The presence of a germ cell tumor of the cerebrum NOT_TRANSLATED -en nl HP:0002010 rdfs:label Narrow maxilla Smalle maxilla CANDIDATE -en nl HP:0100315 rdfs:label Lewy bodies Lewy bodies CANDIDATE -en nl HP:0002011 rdfs:label Morphological central nervous system abnormality Morfologische afwijking van het centrale zenuwstelsel CANDIDATE -en nl HP:0002011 IAO:0000115 A structural abnormality of the central nervous system A structural abnormality of the central nervous system NOT_TRANSLATED -en nl HP:0100314 rdfs:label Cerebral inclusion bodies Cerebrale inclusielichaampjes CANDIDATE -en nl HP:0100314 IAO:0000115 Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain NOT_TRANSLATED -en nl HP:0002012 rdfs:label Abnormality of the abdominal organs Afwijking van de buikorganen CANDIDATE -en nl HP:0002012 IAO:0000115 An abnormality of the viscera of the abdomen An abnormality of the viscera of the abdomen NOT_TRANSLATED -en nl HP:0100317 rdfs:label Argyrophilic inclusion bodies Argyrophilic inclusion bodies NOT_TRANSLATED -en nl HP:0100317 IAO:0000115 Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue NOT_TRANSLATED -en nl HP:0002013 rdfs:label Vomiting Braken CANDIDATE -en nl HP:0002013 IAO:0000115 Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions NOT_TRANSLATED -en nl HP:0100316 rdfs:label Hirano bodies Hirano bodies CANDIDATE -en nl HP:0100316 IAO:0000115 Intracellular aggregates of actin and actin-associated proteins within nerve cells Intracellular aggregates of actin and actin-associated proteins within nerve cells NOT_TRANSLATED -en nl HP:0002014 rdfs:label Diarrhea Diarree CANDIDATE -en nl HP:0002014 IAO:0000115 Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day NOT_TRANSLATED -en nl HP:0100319 rdfs:label Cerebral hyaline bodies Cerebrale hyaline bodies CANDIDATE -en nl HP:0100319 IAO:0000115 Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance NOT_TRANSLATED -en nl HP:0002015 rdfs:label Dysphagia Dysfagie CANDIDATE -en nl HP:0002015 IAO:0000115 Difficulty in swallowing Difficulty in swallowing NOT_TRANSLATED -en nl HP:0100318 rdfs:label Lafora bodies Lafora bodies CANDIDATE -en nl HP:0100318 IAO:0000115 An intraneuronal inclusion body composed of acid mucopolysaccharides An intraneuronal inclusion body composed of acid mucopolysaccharides NOT_TRANSLATED -en nl HP:0100321 rdfs:label Abnormal dentate nucleus morphology Afwijking van de nucleus dentatus CANDIDATE -en nl HP:0100321 IAO:0000115 An abnormality of the dentate nucleus An abnormality of the dentate nucleus NOT_TRANSLATED -en nl HP:0002017 rdfs:label Nausea and vomiting Misselijkheid en braken CANDIDATE -en nl HP:0002017 IAO:0000115 Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea NOT_TRANSLATED -en nl HP:0100320 rdfs:label Rosenthal fibers Rosenthal vezels CANDIDATE -en nl HP:0100320 IAO:0000115 Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on HE staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on HE staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders NOT_TRANSLATED -en nl HP:0002018 rdfs:label Nausea Misselijkheid CANDIDATE -en nl HP:0002018 IAO:0000115 A sensation of unease in the stomach together with an urge to vomit A sensation of unease in the stomach together with an urge to vomit NOT_TRANSLATED -en nl HP:0100323 rdfs:label Juvenile aseptic necrosis Juveniele aseptische necrose CANDIDATE -en nl HP:0100323 IAO:0000115 Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers NOT_TRANSLATED -en nl HP:0002019 rdfs:label Constipation Constipatie CANDIDATE -en nl HP:0002019 IAO:0000115 Infrequent or difficult evacuation of feces Infrequent or difficult evacuation of feces NOT_TRANSLATED -en nl HP:0100322 rdfs:label Aplasia of the pyramidal tract Aplasie van de pyramidebaan CANDIDATE -en nl HP:0002020 rdfs:label Gastroesophageal reflux Gastro-oesofageale reflux CANDIDATE -en nl HP:0002020 IAO:0000115 A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter NOT_TRANSLATED -en nl HP:0002021 rdfs:label Pyloric stenosis Pyloris stenose CANDIDATE -en nl HP:0002021 IAO:0000115 Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss NOT_TRANSLATED -en nl HP:0100324 rdfs:label Scleroderma Sclerodermie CANDIDATE -en nl HP:0100324 IAO:0000115 A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin NOT_TRANSLATED -en nl HP:0100327 rdfs:label Cow milk allergy Koemelkeiwitallergie CANDIDATE -en nl HP:0100327 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against cow milk protein Hypersensitivity in form of an adverse immune reaction against cow milk protein NOT_TRANSLATED -en nl HP:0002023 rdfs:label Anal atresia Anale atresie CANDIDATE -en nl HP:0002023 IAO:0000115 Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract NOT_TRANSLATED -en nl HP:0100326 rdfs:label Immunologic hypersensitivity Immunologische overgevoeligheid CANDIDATE -en nl HP:0100326 IAO:0000115 Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens NOT_TRANSLATED -en nl HP:0002024 rdfs:label Malabsorption Malabsorptie CANDIDATE -en nl HP:0002024 IAO:0000115 Impaired ability to absorb one or more nutrients from the intestine Impaired ability to absorb one or more nutrients from the intestine NOT_TRANSLATED -en nl HP:0100329 rdfs:label Tarsometatarsal synostosis Tarsometatarsale synostose CANDIDATE -en nl HP:0002025 rdfs:label Anal stenosis Anale stenose CANDIDATE -en nl HP:0002025 IAO:0000115 Abnormal narrowing of the anal opening Abnormal narrowing of the anal opening NOT_TRANSLATED -en nl HP:0100328 rdfs:label Carpometacarpal synostosis Carpometacarpale synostose CANDIDATE -en nl HP:0100328 IAO:0000115 Fusion involving carpal and metacarpal bones Fusion involving carpal and metacarpal bones NOT_TRANSLATED -en nl HP:0002027 rdfs:label Abdominal pain Abdominale pijn CANDIDATE -en nl HP:0002027 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen NOT_TRANSLATED -en nl HP:0002028 rdfs:label Chronic diarrhea Chronische diarree CANDIDATE -en nl HP:0002028 IAO:0000115 The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks NOT_TRANSLATED -en nl HP:0100333 rdfs:label Unilateral cleft lip Unilaterale gespleten lip CANDIDATE -en nl HP:0100333 IAO:0000115 A non-midline cleft of the upper lip on one side only A non-midline cleft of the upper lip on one side only NOT_TRANSLATED -en nl HP:0100335 rdfs:label Non-midline cleft lip Non-middellijn gespleten lip CANDIDATE -en nl HP:0100335 IAO:0000115 Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region NOT_TRANSLATED -en nl HP:0002031 rdfs:label Abnormal esophagus morphology Afwijking van de morfologie van de oesofagus CANDIDATE -en nl HP:0002031 IAO:0000115 A structural abnormality of the esophagus A structural abnormality of the esophagus NOT_TRANSLATED -en nl HP:0100334 rdfs:label Unilateral cleft palate Unilaterale gespleten gehemelte CANDIDATE -en nl HP:0002032 rdfs:label Esophageal atresia Oesofagusatresie CANDIDATE -en nl HP:0002032 IAO:0000115 A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach NOT_TRANSLATED -en nl HP:0100337 rdfs:label Bilateral cleft palate Bilaterale gespleten gehemelte CANDIDATE -en nl HP:0100337 IAO:0000115 Nonmidline cleft palate on the left and right sides Nonmidline cleft palate on the left and right sides NOT_TRANSLATED -en nl HP:0002033 rdfs:label Poor suck Slechte zuiging CANDIDATE -en nl HP:0002033 IAO:0000115 An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed NOT_TRANSLATED -en nl HP:0100336 rdfs:label Bilateral cleft lip Bilaterale gespleten lip CANDIDATE -en nl HP:0100336 IAO:0000115 A non-midline cleft of the upper lip on the left and right sides A non-midline cleft of the upper lip on the left and right sides NOT_TRANSLATED -en nl HP:0002034 rdfs:label Abnormal rectum morphology Afwijking van het rectum CANDIDATE -en nl HP:0002034 IAO:0000115 An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus NOT_TRANSLATED -en nl HP:0100339 rdfs:label Abnormality of the os naviculare pedis Afwijking van het os naviculare van de voet CANDIDATE -en nl HP:0002035 rdfs:label Rectal prolapse Rectum prolaps CANDIDATE -en nl HP:0002035 IAO:0000115 Protrusion of the rectal mucous membrane through the anus Protrusion of the rectal mucous membrane through the anus NOT_TRANSLATED -en nl HP:0100338 rdfs:label Non-midline cleft palate Non-middellijn gespleten gehemelte CANDIDATE -en nl HP:0002036 rdfs:label Hiatus hernia Hiatus hernia CANDIDATE -en nl HP:0002036 IAO:0000115 The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus NOT_TRANSLATED -en nl HP:0100341 rdfs:label Tibial deviation of the 4th toe Tibiale deviatie van de 4e teen CANDIDATE -en nl HP:0002037 rdfs:label Inflammation of the large intestine Ontsteking van de dikke darm CANDIDATE -en nl HP:0002037 IAO:0000115 Inflammation, or an inflammatory state in the large intestine Inflammation, or an inflammatory state in the large intestine NOT_TRANSLATED -en nl HP:0100340 rdfs:label Fibular deviation of the 4th toe Fibulaire deviatie van de 4e teen CANDIDATE -en nl HP:0002038 rdfs:label Protein avoidance Eiwit ontwijking CANDIDATE -en nl HP:0100343 rdfs:label Tibial deviation of the 3rd toe Tibiale deviatie van de 3e teen CANDIDATE -en nl HP:0002039 rdfs:label Anorexia Anorexia CANDIDATE -en nl HP:0002039 IAO:0000115 A lack or loss of appetite for food (as a medical condition) A lack or loss of appetite for food (as a medical condition) NOT_TRANSLATED -en nl HP:0100342 rdfs:label Fibular deviation of the 3rd toe Fibulaire deviatie van de 3e teen CANDIDATE -en nl HP:0002040 rdfs:label Esophageal varix Oesofagus varices CANDIDATE -en nl HP:0002040 IAO:0000115 Extreme dilation of the submucusoal veins in the lower portion of the esophagus Extreme dilation of the submucusoal veins in the lower portion of the esophagus NOT_TRANSLATED -en nl HP:0100345 rdfs:label Tibial deviation of the 2nd toe Tibiale deviatie van de 2e teen CANDIDATE -en nl HP:0002041 rdfs:label Intractable diarrhea Onhandelbare diarree CANDIDATE -en nl HP:0100344 rdfs:label Fibular deviation of the 2nd toe Fibulaire deviatie van de 2e teen CANDIDATE -en nl HP:0100347 rdfs:label Tibial deviation of the 5th toe Tibiale deviatie van de 5e teen CANDIDATE -en nl HP:0002043 rdfs:label Esophageal stricture Oesofagus strictuur CANDIDATE -en nl HP:0002043 IAO:0000115 A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen NOT_TRANSLATED -en nl HP:0100346 rdfs:label Fibular deviation of the 5th toe Fibulaire deviatie van de 5e teen CANDIDATE -en nl HP:0002044 rdfs:label Zollinger-Ellison syndrome Zollinger-Ellison syndroom CANDIDATE -en nl HP:0002044 IAO:0000115 A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration NOT_TRANSLATED -en nl HP:0100349 rdfs:label Contracture of the proximal interphalangeal joint of the 3rd toe Contractuur van het proximale interfalangeale gewricht van de 3e teen CANDIDATE -en nl HP:0100349 IAO:0000115 The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002045 rdfs:label Hypothermia Hypothermie CANDIDATE -en nl HP:0002045 IAO:0000115 Reduced body temperature due to failed thermoregulation Reduced body temperature due to failed thermoregulation NOT_TRANSLATED -en nl HP:0100348 rdfs:label Contracture of the proximal interphalangeal joint of the 2nd toe Contractuur van het proximale interfalangeale gewricht van de 2e teen CANDIDATE -en nl HP:0100348 IAO:0000115 The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002046 rdfs:label Heat intolerance Hitte intolerantie CANDIDATE -en nl HP:0002046 IAO:0000115 The inability to maintain a comfortable body temperature in warm or hot weather The inability to maintain a comfortable body temperature in warm or hot weather NOT_TRANSLATED -en nl HP:0100351 rdfs:label Contractures of the proximal interphalangeal joint of the 5th toe Contracturen van het proximale interfalangeale gewricht van de 5e teen CANDIDATE -en nl HP:0100351 IAO:0000115 The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002047 rdfs:label Malignant hyperthermia Maligne hyperthermie CANDIDATE -en nl HP:0002047 IAO:0000115 Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine NOT_TRANSLATED -en nl HP:0100350 rdfs:label Contracture of the proximal interphalangeal joint of the 4th toe Contracturen van het proximale interfalangeale gewricht van de 4e teen CANDIDATE -en nl HP:0100350 IAO:0000115 The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002048 rdfs:label Renal cortical atrophy Renale corticale atrofie CANDIDATE -en nl HP:0002048 IAO:0000115 Atrophy of the cortex of the kidney Atrophy of the cortex of the kidney NOT_TRANSLATED -en nl HP:0100353 rdfs:label Contracture of the distal interphalangeal joint of the 3rd toe Contractuur van het distale interfalangeale gewricht van de 3e teen CANDIDATE -en nl HP:0100353 IAO:0000115 The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002049 rdfs:label Proximal renal tubular acidosis Proximale renale tubulaire acidose CANDIDATE -en nl HP:0002049 IAO:0000115 A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia NOT_TRANSLATED -en nl HP:0100352 rdfs:label Contracture of the distal interphalangeal joint of the 2nd toe Contractuur van het distale interfalangeale gewricht van de 2e teen CANDIDATE -en nl HP:0100352 IAO:0000115 The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002050 rdfs:label Macroorchidism, postpubertal Macroorchidisme, post-puberteit CANDIDATE -en nl HP:0100355 rdfs:label Contractures of the distal interphalangeal joint of the 5th toe Contractuur van het distale interfalangeale gewricht van de 5e teen CANDIDATE -en nl HP:0100355 IAO:0000115 The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0100354 rdfs:label Contracture of the distal interphalangeal joint of the 4th toe Contractuur van het distale interfalangeale gewricht van de 4e teen CANDIDATE -en nl HP:0100354 IAO:0000115 The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0100357 rdfs:label Contracture of the metatarsophalangeal joint of the 3rd toe Contractuur van het metatarsofalangeale gewricht van de 3e teen CANDIDATE -en nl HP:0100357 IAO:0000115 The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0100356 rdfs:label Contracture of the metatarsophalangeal joint of the 2nd toe Contractuur van het metatarsofalangeale gewricht van de 2e teen CANDIDATE -en nl HP:0100356 IAO:0000115 The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002054 rdfs:label Heavy supraorbital ridges Prominente supraorbitale plooien CANDIDATE -en nl HP:0100359 rdfs:label Contracture of the metatarsophalangeal joint of the 5th toe Contractuur van het metatarsofalangeale gewricht van de 5e teen CANDIDATE -en nl HP:0100359 IAO:0000115 The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002055 rdfs:label Curved linear dimple below the lower lip Een afwijking van de onderlip CANDIDATE -en nl HP:0100358 rdfs:label Contracture of the metatarsophalangeal joint of the 4th toe Contractuur van het metatarsofalangeale gewricht van de 4e teen CANDIDATE -en nl HP:0100358 IAO:0000115 The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0002056 rdfs:label Abnormality of the glabella Afwijking van de glabella CANDIDATE -en nl HP:0002056 IAO:0000115 An abnormality of the glabella Een afwijking van de glabella CANDIDATE -en nl HP:0002057 rdfs:label Prominent glabella Prominente glabella CANDIDATE -en nl HP:0002057 IAO:0000115 Forward protrusion of the glabella Voorwaartse protrusie van de glabella CANDIDATE -en nl HP:0100360 rdfs:label Upper-limb joint contracture Contracturen van de gewrichten van de bovenste ledematen CANDIDATE -en nl HP:0100360 IAO:0000115 A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin NOT_TRANSLATED -en nl HP:0002058 rdfs:label Myopathic facies Myopatisch aangezicht CANDIDATE -en nl HP:0002058 IAO:0000115 A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness NOT_TRANSLATED -en nl HP:0100363 rdfs:label Aplasia of the phalanges of the 4th toe Aplasie van de falangen van de 4e teen CANDIDATE -en nl HP:0002059 rdfs:label Cerebral atrophy Cerebrale atrofie CANDIDATE -en nl HP:0002059 IAO:0000115 Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum NOT_TRANSLATED -en nl HP:0100362 rdfs:label Aplasia of the phalanges of the 3rd toe Aplasie van de falangen van de 3e teen CANDIDATE -en nl HP:0002060 rdfs:label Abnormal cerebral morphology Afwijking van het cerebrum CANDIDATE -en nl HP:0002060 IAO:0000115 Any structural abnormality of the telencephalon, which is also known as the cerebrum Any structural abnormality of the telencephalon, which is also known as the cerebrum NOT_TRANSLATED -en nl HP:0002061 rdfs:label Lower limb spasticity Spasticiteit van de onderste ledematen CANDIDATE -en nl HP:0002061 IAO:0000115 Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis NOT_TRANSLATED -en nl HP:0100364 rdfs:label Aplasia of the phalanges of the 5th toe Aplasie van de falangen van de 5e teen CANDIDATE -en nl HP:0002062 rdfs:label Morphological abnormality of the pyramidal tract Morfologische afwijking van de piramidebaan CANDIDATE -en nl HP:0002062 IAO:0000115 Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts NOT_TRANSLATED -en nl HP:0100367 rdfs:label Short phalanx of the 4th toe Korte falanx van de 4e teen CANDIDATE -en nl HP:0100367 IAO:0000115 Developmental hypoplasia of one or more phalanx of fourth toe Developmental hypoplasia of one or more phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002063 rdfs:label Rigidity Rigiditeit CANDIDATE -en nl HP:0002063 IAO:0000115 Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity NOT_TRANSLATED -en nl HP:0100366 rdfs:label Short phalanx of the 3rd toe Korte falanx van de 3e teen CANDIDATE -en nl HP:0100366 IAO:0000115 Developmental hypoplasia of the phalanx of third toe Developmental hypoplasia of the phalanx of third toe NOT_TRANSLATED -en nl HP:0002064 rdfs:label Spastic gait Spastische gang CANDIDATE -en nl HP:0002064 IAO:0000115 Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg NOT_TRANSLATED -en nl HP:0100369 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 3rd toe Aplasie/hypoplasie van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100368 rdfs:label Short phalanx of the 5th toe Korte falanx van de 5e teen CANDIDATE -en nl HP:0100368 IAO:0000115 Developmental hypoplasia of one or more phalanx of little toe Developmental hypoplasia of one or more phalanx of little toe NOT_TRANSLATED -en nl HP:0002066 rdfs:label Gait ataxia Ataxie CANDIDATE -en nl HP:0002066 IAO:0000115 A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall NOT_TRANSLATED -en nl HP:0100371 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 5th toe Aplasie/hypoplasie van de distale falanx van de 5e teen CANDIDATE -en nl HP:0002067 rdfs:label Bradykinesia Bradykinesie CANDIDATE -en nl HP:0002067 IAO:0000115 Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement) Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement) NOT_TRANSLATED -en nl HP:0100370 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 4th toe Aplasie/hypoplasie van de distale falanx van de 4e teen CANDIDATE -en nl HP:0002068 rdfs:label Neuromuscular dysphagia Neuromusculaire dysfagie CANDIDATE -en nl HP:0100373 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 4th toe Aplasie/hypoplasie van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0002069 rdfs:label Bilateral tonic-clonic seizure Gegeneraliseerde tonisch-clonische insulten CANDIDATE -en nl HP:0002069 IAO:0000115 A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase NOT_TRANSLATED -en nl HP:0100372 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 3rd toe Aplasie/hypoplasie van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0002070 rdfs:label Limb ataxia Limb ataxie CANDIDATE -en nl HP:0002070 IAO:0000115 A kind of ataxia that affects movements of the extremities A kind of ataxia that affects movements of the extremities NOT_TRANSLATED -en nl HP:0100375 rdfs:label Aplasia/hypoplasia of the proximal phalanx of the 3rd toe Aplasie/hypoplasie van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100375 IAO:0000115 Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe NOT_TRANSLATED -en nl HP:0002071 rdfs:label Abnormality of extrapyramidal motor function Afwijking van de extrapyramidale motorische functie CANDIDATE -en nl HP:0002071 IAO:0000115 A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless) A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless) NOT_TRANSLATED -en nl HP:0100374 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 5th toe Aplasie/hypoplasie van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0002072 rdfs:label Chorea Chorea CANDIDATE -en nl HP:0002072 IAO:0000115 Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities NOT_TRANSLATED -en nl HP:0100377 rdfs:label Aplasia/hypoplasia of the proximal phalanx of the 5th toe Aplasie/hypoplasie van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100377 IAO:0000115 Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0002073 rdfs:label Progressive cerebellar ataxia Progressieve cerebellaire ataxie CANDIDATE -en nl HP:0100376 rdfs:label Aplasia/hypoplasia of the proximal phalanx of the 4th toe Aplasie/hypoplasie van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100376 IAO:0000115 Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe NOT_TRANSLATED -en nl HP:0002074 rdfs:label Increased neuronal autofluorescent lipopigment Verhoogd neuronaal autofluorescent lipopigment CANDIDATE -en nl HP:0002074 IAO:0000115 Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient NOT_TRANSLATED -en nl HP:0100379 rdfs:label Aplasia of the distal phalanx of the 4th toe Aplasie van de distale falanx van de 4e teen CANDIDATE -en nl HP:0002075 rdfs:label Dysdiadochokinesis Dysdiadochokinese CANDIDATE -en nl HP:0002075 IAO:0000115 A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible NOT_TRANSLATED -en nl HP:0100378 rdfs:label Absent distal phalanx of the 3rd toe Afwezige distale falanx van de 3e teen CANDIDATE -en nl HP:0100378 IAO:0000115 Developmental aplasia of the distal phalanx of third toe Developmental aplasia of the distal phalanx of third toe NOT_TRANSLATED -en nl HP:0002076 rdfs:label Migraine Migraine CANDIDATE -en nl HP:0002076 IAO:0000115 Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms NOT_TRANSLATED -en nl HP:0100381 rdfs:label Absent middle phalanx of the 3rd toe Afwezige middelste falanx van de 3e teen CANDIDATE -en nl HP:0100381 IAO:0000115 Developmental aplasia of the middle phalanx of third toe Developmental aplasia of the middle phalanx of third toe NOT_TRANSLATED -en nl HP:0002077 rdfs:label Migraine with aura Migraine met aura CANDIDATE -en nl HP:0002077 IAO:0000115 A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession NOT_TRANSLATED -en nl HP:0100380 rdfs:label Aplasia of the distal phalanx of the 5th toe Aplasie van de distale falanx van de 5e teen CANDIDATE -en nl HP:0002078 rdfs:label Truncal ataxia Truncale ataxie CANDIDATE -en nl HP:0002078 IAO:0000115 Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting NOT_TRANSLATED -en nl HP:0100383 rdfs:label Aplasia of the middle phalanx of the 5th toe Aplasie van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0002079 rdfs:label Hypoplasia of the corpus callosum Hypoplasie van het corpus callosum CANDIDATE -en nl HP:0002079 IAO:0000115 Underdevelopment of the corpus callosum Underdevelopment of the corpus callosum NOT_TRANSLATED -en nl HP:0100382 rdfs:label Aplasia of the middle phalanx of the 4th toe Aplasie van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0002080 rdfs:label Intention tremor Intentie tremor CANDIDATE -en nl HP:0002080 IAO:0000115 A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger) A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger) NOT_TRANSLATED -en nl HP:0100385 rdfs:label Aplasia of the proximal phalanx of the 4th toe Aplasie van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100384 rdfs:label Absent proximal phalanx of the 3rd toe Afwezige proximale falanx van de 3e teen CANDIDATE -en nl HP:0100384 IAO:0000115 Absence of proximal phalanx of third toe, owing to a congenital defect of development Absence of proximal phalanx of third toe, owing to a congenital defect of development NOT_TRANSLATED -en nl HP:0100387 rdfs:label Aplasia of the middle phalanges of the toes Aplasie van de middelste falanx van de tenen CANDIDATE -en nl HP:0002083 rdfs:label Migraine without aura Migraine zonder aura CANDIDATE -en nl HP:0002083 IAO:0000115 Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia NOT_TRANSLATED -en nl HP:0100386 rdfs:label Aplasia of the proximal phalanx of the 5th toe Aplasie van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0002084 rdfs:label Encephalocele Encefalocele CANDIDATE -en nl HP:0002084 IAO:0000115 A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull NOT_TRANSLATED -en nl HP:0100389 rdfs:label Short distal phalanx of the 3rd toe Korte distale falanx van de 3e teen CANDIDATE -en nl HP:0100389 IAO:0000115 Developmental hypoplasia of the distal phalanx of third toe Developmental hypoplasia of the distal phalanx of third toe NOT_TRANSLATED -en nl HP:0002085 rdfs:label Occipital encephalocele Occipitale encefalocele CANDIDATE -en nl HP:0002085 IAO:0000115 A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp NOT_TRANSLATED -en nl HP:0100388 rdfs:label Aplasia of the proximal phalanges of the toes Aplasie van de proximale falanx van de tenen CANDIDATE -en nl HP:0002086 rdfs:label Abnormality of the respiratory system Afwijking van het respiratoire systeem CANDIDATE -en nl HP:0002086 IAO:0000115 An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles NOT_TRANSLATED -en nl HP:0100391 rdfs:label Short distal phalanx of the 5th toe Korte distale falanx van de 5e teen CANDIDATE -en nl HP:0100391 IAO:0000115 Developmental hypoplasia of the distal phalanx of little toe Developmental hypoplasia of the distal phalanx of little toe NOT_TRANSLATED -en nl HP:0002087 rdfs:label Abnormality of the upper respiratory tract Afwijking van de bovenste luchtwegen CANDIDATE -en nl HP:0002087 IAO:0000115 An abnormality of the upper respiratory tract An abnormality of the upper respiratory tract NOT_TRANSLATED -en nl HP:0100390 rdfs:label Short distal phalanx of the 4th toe Korte distale falanx van de 4e teen CANDIDATE -en nl HP:0100390 IAO:0000115 Developmental hypoplasia of the distal phalanx of fourth toe Developmental hypoplasia of the distal phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002088 rdfs:label Abnormal lung morphology Abnormale long morfologie CANDIDATE -en nl HP:0002088 IAO:0000115 Any structural anomaly of the lung Any structural anomaly of the lung NOT_TRANSLATED -en nl HP:0100393 rdfs:label Short middle phalanx of the 4th toe Korte middelste falanx van de 4e teen CANDIDATE -en nl HP:0100393 IAO:0000115 Developmental hypoplasia of the middle phalanx of fourth toe Developmental hypoplasia of the middle phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002089 rdfs:label Pulmonary hypoplasia Pulmonale hypoplasie CANDIDATE -en nl HP:0100392 rdfs:label Short middle phalanx of the 3rd toe Korte middelste falanx van de 3e teen CANDIDATE -en nl HP:0100392 IAO:0000115 Developmental hypoplasia of the middle phalanx of third toe Developmental hypoplasia of the middle phalanx of third toe NOT_TRANSLATED -en nl HP:0002090 rdfs:label Pneumonia Pneumonie CANDIDATE -en nl HP:0002090 IAO:0000115 Inflammation of any part of the lung parenchyma Inflammation of any part of the lung parenchyma NOT_TRANSLATED -en nl HP:0100395 rdfs:label Short proximal phalanx of the 3rd toe Korte proximale falanx van de 3e teen CANDIDATE -en nl HP:0100395 IAO:0000115 Abnormal reduction in length of proximal phalanx of third toe Abnormal reduction in length of proximal phalanx of third toe NOT_TRANSLATED -en nl HP:0002091 rdfs:label Restrictive ventilatory defect Restrictief ventilatoir defect CANDIDATE -en nl HP:0002091 IAO:0000115 A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus NOT_TRANSLATED -en nl HP:0100394 rdfs:label Short middle phalanx of the 5th toe Korte middelste falanx van de 5e teen CANDIDATE -en nl HP:0100394 IAO:0000115 Developmental hypoplasia of the middle phalanx of the 5th toe Developmental hypoplasia of the middle phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0002092 rdfs:label Pulmonary arterial hypertension Pulmonale arteriele hypertensie CANDIDATE -en nl HP:0002092 IAO:0000115 Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position NOT_TRANSLATED -en nl HP:0100397 rdfs:label Short proximal phalanx of the 5th toe Korte proximale falanx van de 5e teen CANDIDATE -en nl HP:0100397 IAO:0000115 Developmental hypoplasia of the proximal phalanx of fifth toe Developmental hypoplasia of the proximal phalanx of fifth toe NOT_TRANSLATED -en nl HP:0002093 rdfs:label Respiratory insufficiency Respiratoire insufficiëntie CANDIDATE -en nl HP:0100396 rdfs:label Short proximal phalanx of the 4th toe Korte proximale falanx van de 4e teen CANDIDATE -en nl HP:0100396 IAO:0000115 Developmental hypoplasia of the proximal phalanx of fourth toe Developmental hypoplasia of the proximal phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002094 rdfs:label Dyspnea Dyspnoe CANDIDATE -en nl HP:0002094 IAO:0000115 Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale NOT_TRANSLATED -en nl HP:0100399 rdfs:label Duplication of the distal phalanx of the 4th toe Duplicatie van de distale falanx van de 4e teen CANDIDATE -en nl HP:0100399 IAO:0000115 Partial or complete duplication of the distal phalanx of fourth toe Partial or complete duplication of the distal phalanx of fourth toe NOT_TRANSLATED -en nl HP:0100398 rdfs:label Duplication of the distal phalanx of the 3rd toe Duplicatie van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100398 IAO:0000115 Partial or complete duplication of distal phalanx of third toe Partial or complete duplication of distal phalanx of third toe NOT_TRANSLATED -en nl HP:0100401 rdfs:label Duplication of the middle phalanx of the 3rd toe Duplicatie van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0100401 IAO:0000115 Partial or complete duplication of middle phalanx of third toe Partial or complete duplication of middle phalanx of third toe NOT_TRANSLATED -en nl HP:0002097 rdfs:label Emphysema Emfyseem CANDIDATE -en nl HP:0100400 rdfs:label Duplication of the distal phalanx of the 5th toe Duplicatie van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100400 IAO:0000115 Partial or complete duplication of the distal phalanx of little toe Partial or complete duplication of the distal phalanx of little toe NOT_TRANSLATED -en nl HP:0002098 rdfs:label Respiratory distress Respiratoir ongemak CANDIDATE -en nl HP:0002098 IAO:0000115 Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea NOT_TRANSLATED -en nl HP:0100403 rdfs:label Duplication of the middle phalanx of the 5th toe Duplicatie van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100403 IAO:0000115 Partial or complete duplication of the middle phalanx of the 5th toe Partial or complete duplication of the middle phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0002099 rdfs:label Asthma Astma CANDIDATE -en nl HP:0002099 IAO:0000115 Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing NOT_TRANSLATED -en nl HP:0100402 rdfs:label Duplication of the middle phalanx of the 4th toe Duplicatie van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0100402 IAO:0000115 Partial or complete duplication of middle phalanx of fourth toe Partial or complete duplication of middle phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002100 rdfs:label Recurrent aspiration pneumonia Recidiverende aspiratiepneumonie CANDIDATE -en nl HP:0002100 IAO:0000115 Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia NOT_TRANSLATED -en nl HP:0100405 rdfs:label Duplication of the proximal phalanx of the 4th toe Duplicatie van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100405 IAO:0000115 Partial or complete duplication of the proximal phalanx of fourth toe Partial or complete duplication of the proximal phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002101 rdfs:label Abnormal lung lobation Abnormale long lobulatie CANDIDATE -en nl HP:0002101 IAO:0000115 A developmental defect in the formation of pulmonary lobes A developmental defect in the formation of pulmonary lobes NOT_TRANSLATED -en nl HP:0100404 rdfs:label Duplication of the proximal phalanx of the 3rd toe Duplicatie van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100404 IAO:0000115 Partial or complete duplication of proximal phalanx of third toe Partial or complete duplication of proximal phalanx of third toe NOT_TRANSLATED -en nl HP:0002102 rdfs:label Pleuritis Pleuritis CANDIDATE -en nl HP:0002102 IAO:0000115 Inflammation of the pleura Inflammation of the pleura NOT_TRANSLATED -en nl HP:0100407 rdfs:label Complete duplication of the distal phalanx of the 3rd toe Complete duplicatie van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100407 IAO:0000115 Complete duplication of distal phalanx of third toe Complete duplication of distal phalanx of third toe NOT_TRANSLATED -en nl HP:0002103 rdfs:label Abnormal pleura morphology Afwijking van de pleura CANDIDATE -en nl HP:0002103 IAO:0000115 An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls NOT_TRANSLATED -en nl HP:0100406 rdfs:label Duplication of the proximal phalanx of the 5th toe Duplicatie van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100406 IAO:0000115 Partial or complete duplication of the proximal phalanx of fifth toe Partial or complete duplication of the proximal phalanx of fifth toe NOT_TRANSLATED -en nl HP:0002104 rdfs:label Apnea Apnoe CANDIDATE -en nl HP:0002104 IAO:0000115 Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event NOT_TRANSLATED -en nl HP:0100409 rdfs:label Complete duplication of the distal phalanx of the 5th toe Complete duplicatie van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100409 IAO:0000115 Complete duplication of the distal phalanx of little toe Complete duplication of the distal phalanx of little toe NOT_TRANSLATED -en nl HP:0002105 rdfs:label Hemoptysis Hemoptoë CANDIDATE -en nl HP:0002105 IAO:0000115 Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs NOT_TRANSLATED -en nl HP:0100408 rdfs:label Complete duplication of the distal phalanx of the 4th toe Complete duplicatie van de distale falanx van de 4e teen CANDIDATE -en nl HP:0100408 IAO:0000115 Complete duplication of the distal phalanx of fourth toe Complete duplication of the distal phalanx of fourth toe NOT_TRANSLATED -en nl HP:0100411 rdfs:label Complete duplication of the middle phalanx of the 4th toe Complete duplicatie van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0100411 IAO:0000115 Complete duplication of middle phalanx of fourth toe Complete duplication of middle phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002107 rdfs:label Pneumothorax Pneumothorax CANDIDATE -en nl HP:0002107 IAO:0000115 Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung NOT_TRANSLATED -en nl HP:0100410 rdfs:label Complete duplication of the middle phalanx of the 3rd toe Complete duplicatie van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0100410 IAO:0000115 Complete duplication of middle phalanx of third toe Complete duplication of middle phalanx of third toe NOT_TRANSLATED -en nl HP:0002108 rdfs:label Spontaneous pneumothorax Spontane pneumothorax CANDIDATE -en nl HP:0002108 IAO:0000115 Pneumothorax occurring without traumatic injury to the chest or lung Pneumothorax occurring without traumatic injury to the chest or lung NOT_TRANSLATED -en nl HP:0100413 rdfs:label Complete duplication of the proximal phalanx of the 3rd toe Complete duplicatie van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100413 IAO:0000115 Complete duplication of proximal phalanx of third toe Complete duplication of proximal phalanx of third toe NOT_TRANSLATED -en nl HP:0100412 rdfs:label Complete duplication of the middle phalanx of the 5th toe Complete duplicatie van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100412 IAO:0000115 Complete duplication of the middle phalanx of the 5th toe Complete duplication of the middle phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0002110 rdfs:label Bronchiectasis Bronchiëctasieen CANDIDATE -en nl HP:0002110 IAO:0000115 Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways NOT_TRANSLATED -en nl HP:0100415 rdfs:label Complete duplication of the proximal phalanx of the 5th toe Complete duplicatie van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100415 IAO:0000115 Complete duplication of the proximal phalanx of fifth toe Complete duplication of the proximal phalanx of fifth toe NOT_TRANSLATED -en nl HP:0100414 rdfs:label Complete duplication of the proximal phalanx of the 4th toe Complete duplicatie van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100417 rdfs:label Partial duplication of the distal phalanx of the 4th toe Partiële duplicatie van de distale falanx van de 4e teen CANDIDATE -en nl HP:0100417 IAO:0000115 Partial duplication of the distal phalanx of fourth toe Partial duplication of the distal phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002113 rdfs:label Pulmonary infiltrates Pulmonale infiltraten CANDIDATE -en nl HP:0100416 rdfs:label Partial duplication of the distal phalanx of the 3rd toe Partiële duplicatie van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100416 IAO:0000115 Partial duplication of distal phalanx of third toe Partial duplication of distal phalanx of third toe NOT_TRANSLATED -en nl HP:0100419 rdfs:label Partial duplication of the middle phalanx of the 3rd toe Partiële duplicatie van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0100419 IAO:0000115 Partial duplication of middle phalanx of third toe Partial duplication of middle phalanx of third toe NOT_TRANSLATED -en nl HP:0100418 rdfs:label Partial duplication of the distal phalanx of the 5th toe Partiële duplicatie van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100418 IAO:0000115 Partial duplication of the distal phalanx of little toe Partial duplication of the distal phalanx of little toe NOT_TRANSLATED -en nl HP:0100421 rdfs:label Partial duplication of the middle phalanx of the 5th toe Partiële duplicatie van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100421 IAO:0000115 Partial duplication of the middle phalanx of the 5th toe Partial duplication of the middle phalanx of the 5th toe NOT_TRANSLATED -en nl HP:0100420 rdfs:label Partial duplication of the middle phalanx of the 4th toe Partiële duplicatie van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0100420 IAO:0000115 Partial duplication of middle phalanx of fourth toe Partial duplication of middle phalanx of fourth toe NOT_TRANSLATED -en nl HP:0002118 rdfs:label Abnormal cerebral ventricle morphology Afwijking van de cerebrale ventrikels CANDIDATE -en nl HP:0002118 IAO:0000115 Any structural abnormality of the cerebral ventricles Any structural abnormality of the cerebral ventricles NOT_TRANSLATED -en nl HP:0100423 rdfs:label Partial duplication of the proximal phalanx of the 4th toe Partiële duplicatie van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0002119 rdfs:label Ventriculomegaly Ventriculomegalie CANDIDATE -en nl HP:0002119 IAO:0000115 An increase in size of the ventricular system of the brain An increase in size of the ventricular system of the brain NOT_TRANSLATED -en nl HP:0100422 rdfs:label Partial duplication of the proximal phalanx of the 3rd toe Partiële duplicatie van het proximalee falanx van de 3e teen CANDIDATE -en nl HP:0100422 IAO:0000115 Partial duplication of proximal phalanx of third toe Partial duplication of proximal phalanx of third toe NOT_TRANSLATED -en nl HP:0002120 rdfs:label Cerebral cortical atrophy Cerebrale corticale atrofie CANDIDATE -en nl HP:0002120 IAO:0000115 Atrophy of the cortex of the cerebrum Atrophy of the cortex of the cerebrum NOT_TRANSLATED -en nl HP:0100425 rdfs:label Broad middle phalanx of the 3rd toe Brede middelste falanx van de 3e teen CANDIDATE -en nl HP:0002121 rdfs:label Generalized non-motor (absence) seizure Absences CANDIDATE -en nl HP:0002121 IAO:0000115 A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features NOT_TRANSLATED -en nl HP:0100424 rdfs:label Partial duplication of the proximal phalanx of the 5th toe Partiële duplicatie van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100424 IAO:0000115 Partial duplication of the proximal phalanx of fifth toe Partial duplication of the proximal phalanx of fifth toe NOT_TRANSLATED -en nl HP:0100427 rdfs:label Broad middle phalanx of the 5th toe Brede middelste falanx van de 5e teen CANDIDATE -en nl HP:0002123 rdfs:label Generalized myoclonic seizure Gegeneraliseerde myoclonische insulten CANDIDATE -en nl HP:0002123 IAO:0000115 A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED -en nl HP:0100426 rdfs:label Broad middle phalanx of the 4th toe Brede middelste falanx van de 4e teen CANDIDATE -en nl HP:0100429 rdfs:label Broad proximal phalanx of the 4th toe Breed proximale falanx van de 4e teen CANDIDATE -en nl HP:0100428 rdfs:label Broad proximal phalanx of the 3rd toe Breed proximale falanx van de 3e teen CANDIDATE -en nl HP:0002126 rdfs:label Polymicrogyria Polymicrogyrie CANDIDATE -en nl HP:0002126 IAO:0000115 Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds) Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds) NOT_TRANSLATED -en nl HP:0100431 rdfs:label Broad distal phalanx of the 3rd toe Brede distale falanx van de 3e teen CANDIDATE -en nl HP:0002127 rdfs:label Abnormal upper motor neuron morphology Abnormale bovenste motor neuron morfologie CANDIDATE -en nl HP:0002127 IAO:0000115 Any structural anomaly that affects the upper motor neuron Any structural anomaly that affects the upper motor neuron NOT_TRANSLATED -en nl HP:0100430 rdfs:label Broad proximal phalanx of the 5th toe Brede proximale falanx van de 5e teen CANDIDATE -en nl HP:0100433 rdfs:label Broad distal phalanx of the 5th toe Brede distale falanx van de 5e teen CANDIDATE -en nl HP:0100432 rdfs:label Broad distal phalanx of the 4th toe Brede distale falanx van de 4e teen CANDIDATE -en nl HP:0100435 rdfs:label Bullet-shaped middle phalanx of the 4th toe Kogel-vormige middelste falanx van de 4e teen CANDIDATE -en nl HP:0100435 IAO:0000115 An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002131 rdfs:label Episodic ataxia Episodische ataxie CANDIDATE -en nl HP:0002131 IAO:0000115 Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days NOT_TRANSLATED -en nl HP:0100434 rdfs:label Bullet-shaped middle phalanx of the 3rd toe Kogel-vormige middelste falanx van de 3e teen CANDIDATE -en nl HP:0100434 IAO:0000115 An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002132 rdfs:label Porencephalic cyst Porencefale cyste CANDIDATE -en nl HP:0002132 IAO:0000115 A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system NOT_TRANSLATED -en nl HP:0100437 rdfs:label Bullet-shaped proximal phalanx of the 3rd toe Kogel-vormige proximale falanx van de 3e teen CANDIDATE -en nl HP:0100437 IAO:0000115 An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002133 rdfs:label Status epilepticus Status epilepticus CANDIDATE -en nl HP:0002133 IAO:0000115 Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures NOT_TRANSLATED -en nl HP:0100436 rdfs:label Bullet-shaped middle phalanx of the 5th toe Kogel-vormige middelste falanx van de 5e teen CANDIDATE -en nl HP:0100436 IAO:0000115 An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002134 rdfs:label Abnormal basal ganglia morphology Afwijking van de basale ganglia CANDIDATE -en nl HP:0002134 IAO:0000115 Abnormality of the basal ganglia Abnormality of the basal ganglia NOT_TRANSLATED -en nl HP:0100439 rdfs:label Bullet-shaped proximal phalanx of the 5th toe Kogel-vormige proximale falanx van de 5e teen CANDIDATE -en nl HP:0100439 IAO:0000115 An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002135 rdfs:label Basal ganglia calcification Meningeale calcificatie CANDIDATE -en nl HP:0002135 IAO:0000115 The presence of calcium deposition affecting one or more structures of the basal ganglia The presence of calcium deposition affecting one or more structures of the basal ganglia NOT_TRANSLATED -en nl HP:0100438 rdfs:label Bullet-shaped proximal phalanx of the 4th toe Kogel-vormige proximale falanx van de 4e teen CANDIDATE -en nl HP:0100438 IAO:0000115 An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002136 rdfs:label Broad-based gait Brede gang CANDIDATE -en nl HP:0002136 IAO:0000115 An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia NOT_TRANSLATED -en nl HP:0100441 rdfs:label Bullet-shaped distal phalanx of the 4th toe Kogel-vormige distale falanx van de 4e teen CANDIDATE -en nl HP:0100441 IAO:0000115 An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0100440 rdfs:label Bullet-shaped distal phalanx of the 3rd toe Kogel-vormige distale falanx van de 3e teen CANDIDATE -en nl HP:0100440 IAO:0000115 An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002138 rdfs:label Subarachnoid hemorrhage Subarachnoidale bloeding CANDIDATE -en nl HP:0002138 IAO:0000115 Hemorrhage occurring between the arachnoid mater and the pia mater Hemorrhage occurring between the arachnoid mater and the pia mater NOT_TRANSLATED -en nl HP:0100443 rdfs:label Curved middle phalanx of the 3rd toe Gebogen middelste falanx van de 3e teen CANDIDATE -en nl HP:0100443 IAO:0000115 A deviation from the normal straight form of the middle phalanx of the third toe A deviation from the normal straight form of the middle phalanx of the third toe NOT_TRANSLATED -en nl HP:0002139 rdfs:label Arrhinencephaly Arrhinencephalie CANDIDATE -en nl HP:0100442 rdfs:label Bullet-shaped distal phalanx of the 5th toe Kogel-vormige distale falanx van de 5e teen CANDIDATE -en nl HP:0100442 IAO:0000115 An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0002140 rdfs:label Ischemic stroke Ischemische beroerte CANDIDATE -en nl HP:0002140 IAO:0000115 Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured NOT_TRANSLATED -en nl HP:0100445 rdfs:label Curved middle phalanx of the 5th toe Gebogen middelste falanx van de 5e teen CANDIDATE -en nl HP:0100445 IAO:0000115 A deviation from the normal straight form of the middle phalanx of the fifth toe A deviation from the normal straight form of the middle phalanx of the fifth toe NOT_TRANSLATED -en nl HP:0002141 rdfs:label Gait imbalance Gang disbalans CANDIDATE -en nl HP:0100444 rdfs:label Curved middle phalanx of the 4th toe Gebogen middelste falanx van de 4e teen CANDIDATE -en nl HP:0100444 IAO:0000115 A deviation from the normal straight form of the middle phalanx of the fourth toe A deviation from the normal straight form of the middle phalanx of the fourth toe NOT_TRANSLATED -en nl HP:0100447 rdfs:label Curved proximal phalanx of the 4th toe Breed proximale falanx van de 4e teen CANDIDATE -en nl HP:0100447 IAO:0000115 A deviation from the normal straight form of the proximal phalanx of the fourth toe A deviation from the normal straight form of the proximal phalanx of the fourth toe NOT_TRANSLATED -en nl HP:0002143 rdfs:label Abnormality of the spinal cord Afwijking van de ruggenmerg CANDIDATE -en nl HP:0002143 IAO:0000115 An abnormality of the spinal cord (myelon) An abnormality of the spinal cord (myelon) NOT_TRANSLATED -en nl HP:0100446 rdfs:label Curved proximal phalanx of the 3rd toe Breed proximale falanx van de 3e teen CANDIDATE -en nl HP:0100446 IAO:0000115 A deviation from the normal straight form of the proximal phalanx of the third toe A deviation from the normal straight form of the proximal phalanx of the third toe NOT_TRANSLATED -en nl HP:0002144 rdfs:label Tethered cord Tethered cord CANDIDATE -en nl HP:0002144 IAO:0000115 During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord NOT_TRANSLATED -en nl HP:0100449 rdfs:label Curved distal phalanx of the 3rd toe Gebogen distale falanx van de 3e teen CANDIDATE -en nl HP:0100449 IAO:0000115 A deviation from the normal straight form of the distal phalanx of the third toe A deviation from the normal straight form of the distal phalanx of the third toe NOT_TRANSLATED -en nl HP:0002145 rdfs:label Frontotemporal dementia Frontotemporale dementie CANDIDATE -en nl HP:0002145 IAO:0000115 A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders NOT_TRANSLATED -en nl HP:0100448 rdfs:label Curved proximal phalanx of the 5th toe Gebogen proximale falanx van de 5e teen CANDIDATE -en nl HP:0100448 IAO:0000115 A deviation from the normal straight form of the proximal phalanx of the fifth toe A deviation from the normal straight form of the proximal phalanx of the fifth toe NOT_TRANSLATED -en nl HP:0100451 rdfs:label Curved distal phalanx of the 5th toe Gebogen distale falanx van de 5e teen CANDIDATE -en nl HP:0100451 IAO:0000115 A deviation from the normal straight form of the distal phalanx of the fifth toe A deviation from the normal straight form of the distal phalanx of the fifth toe NOT_TRANSLATED -en nl HP:0100450 rdfs:label Curved distal phalanx of the 4th toe Gebogen distale falanx van de 4e teen CANDIDATE -en nl HP:0100450 IAO:0000115 A deviation from the normal straight form of the distal phalanx of the fourth toe A deviation from the normal straight form of the distal phalanx of the fourth toe NOT_TRANSLATED -en nl HP:0002148 rdfs:label Hypophosphatemia Hypofosfatemie CANDIDATE -en nl HP:0002148 IAO:0000115 An abnormally decreased phosphate concentration in the blood An abnormally decreased phosphate concentration in the blood NOT_TRANSLATED -en nl HP:0100453 rdfs:label Osteolytic defects of the middle phalanx of the 4th toe Osteolytisch defect van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0002149 rdfs:label Hyperuricemia Hyperurikemie CANDIDATE -en nl HP:0002149 IAO:0000115 An abnormally high level of uric acid in the blood An abnormally high level of uric acid in the blood NOT_TRANSLATED -en nl HP:0100452 rdfs:label Osteolytic defects of the middle phalanx of the 3rd toe Osteolytisch defect van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0002150 rdfs:label Hypercalciuria Hypercalciurie CANDIDATE -en nl HP:0100455 rdfs:label Osteolytic defects of the proximal phalanx of the 3rd toe Osteolytische defecten van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0002151 rdfs:label Increased serum lactate Verhoogd serum lactaat CANDIDATE -en nl HP:0002151 IAO:0000115 Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35) Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35) NOT_TRANSLATED -en nl HP:0100454 rdfs:label Osteolytic defects of the middle phalanx of the 5th toe Osteolytisch defect van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0002152 rdfs:label Hyperproteinemia Hyperproteïnemie CANDIDATE -en nl HP:0002152 IAO:0000115 An increased concentration of proteins in the blood An increased concentration of proteins in the blood NOT_TRANSLATED -en nl HP:0100457 rdfs:label Osteolytic defects of the proximal phalanx of the 5th toe Osteolytische defecten van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0002153 rdfs:label Hyperkalemia Hyperkaliëmie CANDIDATE -en nl HP:0002153 IAO:0000115 An abnormally increased potassium concentration in the blood An abnormally increased potassium concentration in the blood NOT_TRANSLATED -en nl HP:0100456 rdfs:label Osteolytic defects of the proximal phalanx of the 4th toe Osteolytische defecten van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0002154 rdfs:label Hyperglycinemia Hyperglycinemie CANDIDATE -en nl HP:0002154 IAO:0000115 An elevated concentration of glycine in the blood An elevated concentration of glycine in the blood NOT_TRANSLATED -en nl HP:0100459 rdfs:label Osteolytic defects of the distal phalanx of the 4th toe Osteolytisch defect van de distale falanx van de 4e teen CANDIDATE -en nl HP:0002155 rdfs:label Hypertriglyceridemia Hypertriglyceridemie CANDIDATE -en nl HP:0002155 IAO:0000115 An abnormal increase in the level of triglycerides in the blood An abnormal increase in the level of triglycerides in the blood NOT_TRANSLATED -en nl HP:0100458 rdfs:label Osteolytic defects of the distal phalanx of the 3rd toe Osteolytisch defect van de distale falanx van de 3e teen CANDIDATE -en nl HP:0002156 rdfs:label Homocystinuria Homocystinurie CANDIDATE -en nl HP:0002156 IAO:0000115 An increased concentration of homocystine in the urine An increased concentration of homocystine in the urine NOT_TRANSLATED -en nl HP:0100461 rdfs:label Patchy sclerosis of the middle phalanx of the 3rd toe Fragmentarische sclerose van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0002157 rdfs:label Azotemia Azotemie CANDIDATE -en nl HP:0002157 IAO:0000115 An increased concentration of nitrogen compounds in the blood An increased concentration of nitrogen compounds in the blood NOT_TRANSLATED -en nl HP:0100460 rdfs:label Osteolytic defects of the distal phalanx of the 5th toe Osteolytisch defect van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100463 rdfs:label Patchy sclerosis of the middle phalanx of the 5th toe Fragmentarische sclerose van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0100463 IAO:0000115 Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0002159 rdfs:label Heparan sulfate excretion in urine Heparansulfaat excretie in urine CANDIDATE -en nl HP:0002159 IAO:0000115 An increased concentration of heparan sulfates in the urine An increased concentration of heparan sulfates in the urine NOT_TRANSLATED -en nl HP:0100462 rdfs:label Patchy sclerosis of the middle phalanx of the 4th toe Fragmentarische sclerose van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0100462 IAO:0000115 Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0002160 rdfs:label Hyperhomocystinemia Hyperhomocystinemie CANDIDATE -en nl HP:0002160 IAO:0000115 An increased concentration of homocystine in the blood An increased concentration of homocystine in the blood NOT_TRANSLATED -en nl HP:0100465 rdfs:label Patchy sclerosis of the proximal phalanx of the 4th toe Fragmentarische sclerose van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0100465 IAO:0000115 Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0002161 rdfs:label Hyperlysinemia Hyperlysinemie CANDIDATE -en nl HP:0002161 IAO:0000115 An increased concentration of lysine in the blood An increased concentration of lysine in the blood NOT_TRANSLATED -en nl HP:0100464 rdfs:label Patchy sclerosis of the proximal phalanx of the 3rd toe Fragmentarische sclerose van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0002162 rdfs:label Low posterior hairline Lage achterste haarlijn CANDIDATE -en nl HP:0002162 IAO:0000115 Hair on the neck extends more inferiorly than usual Hair on the neck extends more inferiorly than usual NOT_TRANSLATED -en nl HP:0100467 rdfs:label Patchy sclerosis of the distal phalanx of the 3rd toe Fragmentarische sclerose van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100466 rdfs:label Patchy sclerosis of the proximal phalanx of the 5th toe Fragmentarische sclerose van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0100466 IAO:0000115 Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0002164 rdfs:label Nail dysplasia Nagel dysplasie CANDIDATE -en nl HP:0002164 IAO:0000115 The presence of developmental dysplasia of the nail The presence of developmental dysplasia of the nail NOT_TRANSLATED -en nl HP:0100469 rdfs:label Patchy sclerosis of the distal phalanx of the 5th toe Fragmentarische sclerose van de distale falanx van de 5e teen CANDIDATE -en nl HP:0100469 IAO:0000115 Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0002165 rdfs:label Pterygium of nails Pterygium van nagels CANDIDATE -en nl HP:0002165 IAO:0000115 Inward advance of skin over the nail plate Inward advance of skin over the nail plate NOT_TRANSLATED -en nl HP:0100468 rdfs:label Patchy sclerosis of the distal phalanx of the 4th toe Fragmentarische sclerose van de distale falanx van de 4e teen CANDIDATE -en nl HP:0100468 IAO:0000115 Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0002166 rdfs:label Impaired vibration sensation in the lower limbs Verstoorde vibratiezin van de onderste ledematen CANDIDATE -en nl HP:0002166 IAO:0000115 A decrease in the ability to perceive vibration in the legs A decrease in the ability to perceive vibration in the legs NOT_TRANSLATED -en nl HP:0100471 rdfs:label Symphalangism affecting the middle phalanx of the 4th toe Symfalangisme van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0002167 rdfs:label Neurological speech impairment Neurologisch spraakgebrek CANDIDATE -en nl HP:0100470 rdfs:label Symphalangism affecting the middle phalanx of the 3rd toe Symfalangisme van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0002168 rdfs:label Scanning speech Scanning speech CANDIDATE -en nl HP:0002168 IAO:0000115 An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly NOT_TRANSLATED -en nl HP:0100473 rdfs:label Symphalangism affecting the proximal phalanx of the 3rd toe Symfalangisme van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0002169 rdfs:label Clonus Clonus CANDIDATE -en nl HP:0002169 IAO:0000115 A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch NOT_TRANSLATED -en nl HP:0100472 rdfs:label Symphalangism affecting the middle phalanx of the 5th toe Symfalangisme van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0002170 rdfs:label Intracranial hemorrhage Intracraniële bloeding CANDIDATE -en nl HP:0002170 IAO:0000115 Hemorrhage occurring within the skull Hemorrhage occurring within the skull NOT_TRANSLATED -en nl HP:0100475 rdfs:label Symphalangism affecting the proximal phalanx of the 5th toe Symfalangisme van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0002171 rdfs:label Gliosis Gliose CANDIDATE -en nl HP:0002171 IAO:0000115 Gliosis is the focal proliferation of glial cells in the central nervous system Gliosis is the focal proliferation of glial cells in the central nervous system NOT_TRANSLATED -en nl HP:0100474 rdfs:label Symphalangism affecting the proximal phalanx of the 4th toe Symfalangisme van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0002172 rdfs:label Postural instability Posturale instabiliteit CANDIDATE -en nl HP:0002172 IAO:0000115 A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps NOT_TRANSLATED -en nl HP:0100477 rdfs:label Symphalangism affecting the distal phalanx of the 4th toe Symfalangisme van de distale falanx van de 4e teen CANDIDATE -en nl HP:0002173 rdfs:label Hypoglycemic seizures Hypoglycemische insulten CANDIDATE -en nl HP:0100476 rdfs:label Symphalangism affecting the distal phalanx of the 3rd toe Symfalangisme van de distale falanx van de 3e teen CANDIDATE -en nl HP:0002174 rdfs:label Postural tremor Posturale tremor CANDIDATE -en nl HP:0002174 IAO:0000115 A type of tremors that is triggered by holding a limb in a fixed position A type of tremors that is triggered by holding a limb in a fixed position NOT_TRANSLATED -en nl HP:0100478 rdfs:label Symphalangism affecting the distal phalanx of the 5th toe Symfalangisme van de distale falanx van de 5e teen CANDIDATE -en nl HP:0002176 rdfs:label Spinal cord compression Ruggenmerg compressie CANDIDATE -en nl HP:0002176 IAO:0000115 External mechanical compression of the spinal cord External mechanical compression of the spinal cord NOT_TRANSLATED -en nl HP:0100481 rdfs:label Proximal/middle symphalangism of 4th toe Symfalangisme van het proximale/middelste falanx van de 4e teen CANDIDATE -en nl HP:0100481 IAO:0000115 Bony fusion of the middle and proximal phalanges of the 4th toe Bony fusion of the middle and proximal phalanges of the 4th toe NOT_TRANSLATED -en nl HP:0100480 rdfs:label Proximal/middle symphalangism of 3rd toe Symfalangisme van het proximale/middelste falanx van de 3e teen CANDIDATE -en nl HP:0100480 IAO:0000115 Bony fusion of the middle and proximal phalanges of the 3rd toe Bony fusion of the middle and proximal phalanges of the 3rd toe NOT_TRANSLATED -en nl HP:0100483 rdfs:label Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal Symfalangisme van de proximale falanx van de 2e teen met de 2e metatarsaal CANDIDATE -en nl HP:0002179 rdfs:label Opisthotonus Opisthotonus CANDIDATE -en nl HP:0100482 rdfs:label Proximal/middle symphalangism of 5th toe Symfalangisme van het proximale/middelste falanx van de 5e teen CANDIDATE -en nl HP:0100482 IAO:0000115 Bony fusion of the middle and proximal phalanges of the 5th toe Bony fusion of the middle and proximal phalanges of the 5th toe NOT_TRANSLATED -en nl HP:0002180 rdfs:label Neurodegeneration Neurodegeneratie CANDIDATE -en nl HP:0002180 IAO:0000115 Progressive loss of neural cells and tissue Progressive loss of neural cells and tissue NOT_TRANSLATED -en nl HP:0100485 rdfs:label Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal Symfalangisme van de proximale falanx van de 4e teen met de 4e metatarsaal CANDIDATE -en nl HP:0002181 rdfs:label Cerebral edema Cerebraal oedeem CANDIDATE -en nl HP:0002181 IAO:0000115 Abnormal accumulation of fluid in the brain Abnormal accumulation of fluid in the brain NOT_TRANSLATED -en nl HP:0100484 rdfs:label Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal Symfalangisme van de proximale falanx van de 3e teen met de 3e metatarsaal CANDIDATE -en nl HP:0100487 rdfs:label Triangular shaped distal phalanx of the 5th toe Driehoekige distale falanx van de 5e teen CANDIDATE -en nl HP:0002183 rdfs:label Phonophobia Phonophobie CANDIDATE -en nl HP:0002183 IAO:0000115 An abnormally heightened sensitivity to loud sounds An abnormally heightened sensitivity to loud sounds NOT_TRANSLATED -en nl HP:0100486 rdfs:label Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal Symfalangisme van de proximale falanx van de 5e teen met de 5e metatarsaal CANDIDATE -en nl HP:0100489 rdfs:label Proximal/middle symphalangism of 2nd toe Symfalangisme van het proximale/middelste falanx van de 2e teen CANDIDATE -en nl HP:0100489 IAO:0000115 Bony fusion of the middle and proximal phalanges of the 2nd toe Bony fusion of the middle and proximal phalanges of the 2nd toe NOT_TRANSLATED -en nl HP:0002185 rdfs:label Neurofibrillary tangles Neurofibrillaire tangles CANDIDATE -en nl HP:0002185 IAO:0000115 Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form NOT_TRANSLATED -en nl HP:0100488 rdfs:label Synostosis of the proximal phalanx of the hallux with the 1st metatarsal Synostose van de proximale falanx van de hallux met de 1e metatarsaal CANDIDATE -en nl HP:0002186 rdfs:label Apraxia Apraxie CANDIDATE -en nl HP:0002186 IAO:0000115 A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements NOT_TRANSLATED -en nl HP:0100491 rdfs:label Abnormality of lower limb joint Afwijking van gewricht van onderste ledemaat CANDIDATE -en nl HP:0002187 rdfs:label Intellectual disability, profound Verstandelijke beperking, zeer ernstig CANDIDATE -en nl HP:0002187 IAO:0000115 Profound mental retardation is defined as an intelligence quotient (IQ) below 20 Profound mental retardation is defined as an intelligence quotient (IQ) below 20 NOT_TRANSLATED -en nl HP:0100490 rdfs:label Camptodactyly of finger Camptodactylie van vinger CANDIDATE -en nl HP:0100490 IAO:0000115 The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension NOT_TRANSLATED -en nl HP:0002188 rdfs:label Delayed CNS myelination Vertraagde CZS myelinisatie CANDIDATE -en nl HP:0002188 IAO:0000115 Delayed myelination in the central nervous system Delayed myelination in the central nervous system NOT_TRANSLATED -en nl HP:0100493 rdfs:label Hypoammonemia Hypoammonemie CANDIDATE -en nl HP:0100493 IAO:0000115 A decreased concentration of ammonia in the blood A decreased concentration of ammonia in the blood NOT_TRANSLATED -en nl HP:0002190 rdfs:label Choroid plexus cyst Choroid plexus cyste CANDIDATE -en nl HP:0002190 IAO:0000115 A cyst occurring within the choroid plexus within a cerebral ventricle A cyst occurring within the choroid plexus within a cerebral ventricle NOT_TRANSLATED -en nl HP:0100495 rdfs:label Mastocytosis Mastocytose CANDIDATE -en nl HP:0100495 IAO:0000115 The presence of an increased number of mast cells and CD34+ mast cell precursors in the body The presence of an increased number of mast cells and CD34+ mast cell precursors in the body NOT_TRANSLATED -en nl HP:0002191 rdfs:label Progressive spasticity Progressieve spasticiteit CANDIDATE -en nl HP:0002191 IAO:0000115 Spasticity that increases in degree with time Spasticity that increases in degree with time NOT_TRANSLATED -en nl HP:0100494 rdfs:label Abnormal mast cell morphology Abnormale mest cel morfologie CANDIDATE -en nl HP:0100494 IAO:0000115 Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation NOT_TRANSLATED -en nl HP:0100497 rdfs:label Vitamin B3 deficiency Vitamine B3 deficiëntie CANDIDATE -en nl HP:0002193 rdfs:label Pseudobulbar behavioral symptoms Pseudobulbaire gedrags symptomen CANDIDATE -en nl HP:0002193 IAO:0000115 Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc NOT_TRANSLATED -en nl HP:0100496 rdfs:label Abnormality of the vitamin B3 metabolism Afwijking van vitamine B3 metabolisme CANDIDATE -en nl HP:0002194 rdfs:label Delayed gross motor development Vertraagde ontwikkeling van de grove motoriek CANDIDATE -en nl HP:0002194 IAO:0000115 A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling NOT_TRANSLATED -en nl HP:0100499 rdfs:label Tibial deviation of toes Tibiale deviatie van de tenen CANDIDATE -en nl HP:0002195 rdfs:label Dysgenesis of the cerebellar vermis Dysgenesie van de vermis CANDIDATE -en nl HP:0002195 IAO:0000115 Defective development of the vermis of cerebellum Defective development of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0100498 rdfs:label Deviation of toes Deviatie van tenen CANDIDATE -en nl HP:0002196 rdfs:label Myelopathy Myelopathie CANDIDATE -en nl HP:0100501 rdfs:label Recurrent bronchiolitis Terugkerende bronchiolitis CANDIDATE -en nl HP:0100501 IAO:0000115 An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis NOT_TRANSLATED -en nl HP:0002197 rdfs:label Generalized-onset seizure Gegeneraliseerde insulten CANDIDATE -en nl HP:0002197 IAO:0000115 A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex NOT_TRANSLATED -en nl HP:0100500 rdfs:label Fibular deviation of toes Fibulaire deviatie van de tenen CANDIDATE -en nl HP:0002198 rdfs:label Dilated fourth ventricle Gedilateerd vierde ventrikel CANDIDATE -en nl HP:0002198 IAO:0000115 An abnormal dilatation of the fourth cerebral ventricle An abnormal dilatation of the fourth cerebral ventricle NOT_TRANSLATED -en nl HP:0100503 rdfs:label Low levels of vitamin B1 Vitamine B1 deficiëntie CANDIDATE -en nl HP:0100503 IAO:0000115 A reduced concentration of vitamin B1 A reduced concentration of vitamin B1 NOT_TRANSLATED -en nl HP:0002199 rdfs:label Hypocalcemic seizures Hypocalcemische insulten CANDIDATE -en nl HP:0100502 rdfs:label Vitamin B12 deficiency Vitamine B12 deficiëntie CANDIDATE -en nl HP:0002200 rdfs:label Pseudobulbar signs Pseudobulbaire tekenen CANDIDATE -en nl HP:0002200 IAO:0000115 Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc NOT_TRANSLATED -en nl HP:0100505 rdfs:label Low levels of vitamin B5 Vitamine B5 deficiëntie CANDIDATE -en nl HP:0100505 IAO:0000115 A reduced concentration of vitamin B5 A reduced concentration of vitamin B5 NOT_TRANSLATED -en nl HP:0100504 rdfs:label Low levels of vitamin B2 Vitamine B2 deficiëntie CANDIDATE -en nl HP:0100504 IAO:0000115 A reduced concentration of vitamin B2 A reduced concentration of vitamin B2 NOT_TRANSLATED -en nl HP:0002202 rdfs:label Pleural effusion Pleurale effusie CANDIDATE -en nl HP:0002202 IAO:0000115 The presence of an excessive amount of fluid in the pleural cavity The presence of an excessive amount of fluid in the pleural cavity NOT_TRANSLATED -en nl HP:0100507 rdfs:label Reduced blood folate concentration Foliumzuur deficiëntie CANDIDATE -en nl HP:0100507 IAO:0000115 A reduced circulating concentration of folic acid, which is also known as vitamin B9 A reduced circulating concentration of folic acid, which is also known as vitamin B9 NOT_TRANSLATED -en nl HP:0002203 rdfs:label Respiratory paralysis Respiratoire paralyse CANDIDATE -en nl HP:0002203 IAO:0000115 Inability to move the muscles of respiration Inability to move the muscles of respiration NOT_TRANSLATED -en nl HP:0100506 rdfs:label Low levels of vitamin B8 Vitamine B8 deficiëntie CANDIDATE -en nl HP:0100506 IAO:0000115 A reduced concentration of vitamin B8 A reduced concentration of vitamin B8 NOT_TRANSLATED -en nl HP:0002204 rdfs:label Pulmonary embolism Longembolie CANDIDATE -en nl HP:0002204 IAO:0000115 An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery NOT_TRANSLATED -en nl HP:0100509 rdfs:label Abnormality of vitamin C metabolism Afwijking van vitamine C metabolisme CANDIDATE -en nl HP:0002205 rdfs:label Recurrent respiratory infections Recidiverende respiratoire infecties CANDIDATE -en nl HP:0002205 IAO:0000115 An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections NOT_TRANSLATED -en nl HP:0100508 rdfs:label Abnormality of vitamin metabolism Afwijking van vitamine metabolisme CANDIDATE -en nl HP:0100508 IAO:0000115 An anomaly in the metabolism of a vitamin An anomaly in the metabolism of a vitamin NOT_TRANSLATED -en nl HP:0002206 rdfs:label Pulmonary fibrosis Longfibrose CANDIDATE -en nl HP:0002206 IAO:0000115 Replacement of normal lung tissues by fibroblasts and collagen Replacement of normal lung tissues by fibroblasts and collagen NOT_TRANSLATED -en nl HP:0100511 rdfs:label Abnormality of vitamin D metabolism Afwijking van vitamine D metabolisme CANDIDATE -en nl HP:0002207 rdfs:label Diffuse reticular or finely nodular infiltrations Diffuse reticulaire of fijne nodulaire infiltraties CANDIDATE -en nl HP:0100510 rdfs:label Low levels of vitamin C Vitamine C deficiëntie CANDIDATE -en nl HP:0100510 IAO:0000115 A reduced concentration of Vitamin C A reduced concentration of Vitamin C NOT_TRANSLATED -en nl HP:0002208 rdfs:label Coarse hair Grof haar CANDIDATE -en nl HP:0002208 IAO:0000115 Hair shafts are rough in texture Hair shafts are rough in texture NOT_TRANSLATED -en nl HP:0100513 rdfs:label Low levels of vitamin E Vitamine E deficiëntie CANDIDATE -en nl HP:0100513 IAO:0000115 A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol NOT_TRANSLATED -en nl HP:0002209 rdfs:label Sparse scalp hair Spaarzaam hoofdhaar CANDIDATE -en nl HP:0002209 IAO:0000115 Decreased number of hairs per unit area of skin of the scalp Decreased number of hairs per unit area of skin of the scalp NOT_TRANSLATED -en nl HP:0100512 rdfs:label Low levels of vitamin D Vitamine D deficiëntie CANDIDATE -en nl HP:0100512 IAO:0000115 A reduced concentration of Vitamin D A reduced concentration of Vitamin D NOT_TRANSLATED -en nl HP:0100515 rdfs:label Pollakisuria Pollakisurie CANDIDATE -en nl HP:0100515 IAO:0000115 Increased frequency of urination Increased frequency of urination NOT_TRANSLATED -en nl HP:0002211 rdfs:label White forelock Witte voorlok CANDIDATE -en nl HP:0002211 IAO:0000115 A triangular depigmented region of white hairs located in the anterior midline of the scalp A triangular depigmented region of white hairs located in the anterior midline of the scalp NOT_TRANSLATED -en nl HP:0100514 rdfs:label Abnormality of vitamin E metabolism Afwijking van vitamine E metabolisme CANDIDATE -en nl HP:0002212 rdfs:label Curly hair Gekruld haar CANDIDATE -en nl HP:0100517 rdfs:label Neoplasm of the urethra Neoplasma van de urthera CANDIDATE -en nl HP:0100517 IAO:0000115 The presence of a neoplasm of the urethra The presence of a neoplasm of the urethra NOT_TRANSLATED -en nl HP:0002213 rdfs:label Fine hair Fijn haar CANDIDATE -en nl HP:0002213 IAO:0000115 Hair that is fine or thin to the touch Hair that is fine or thin to the touch NOT_TRANSLATED -en nl HP:0100516 rdfs:label Neoplasm of the ureter Neoplasma van de ureter CANDIDATE -en nl HP:0100516 IAO:0000115 The presence of a neoplasm of the ureter The presence of a neoplasm of the ureter NOT_TRANSLATED -en nl HP:0100519 rdfs:label Anuria Anurie CANDIDATE -en nl HP:0100519 IAO:0000115 Absence of urine, clinically classified as below 50ml/day Absence of urine, clinically classified as below 50ml/day NOT_TRANSLATED -en nl HP:0002215 rdfs:label Sparse axillary hair Spaarzaam okselhaar CANDIDATE -en nl HP:0002215 IAO:0000115 Reduced number or density of axillary hair Reduced number or density of axillary hair NOT_TRANSLATED -en nl HP:0100518 rdfs:label Dysuria Dysurie CANDIDATE -en nl HP:0100518 IAO:0000115 Painful or difficult urination Painful or difficult urination NOT_TRANSLATED -en nl HP:0002216 rdfs:label Premature graying of hair Prematuur grijs worden van het haar CANDIDATE -en nl HP:0002216 IAO:0000115 Development of gray hair at a younger than normal age Development of gray hair at a younger than normal age NOT_TRANSLATED -en nl HP:0100521 rdfs:label Neoplasm of the thymus Neoplasma van de thymus CANDIDATE -en nl HP:0100521 IAO:0000115 A tumor (abnormal growth of tissue) of the thymus A tumor (abnormal growth of tissue) of the thymus NOT_TRANSLATED -en nl HP:0002217 rdfs:label Slow-growing hair Langzaam groeiend haar CANDIDATE -en nl HP:0002217 IAO:0000115 Hair whose growth is slower than normal Hair whose growth is slower than normal NOT_TRANSLATED -en nl HP:0100520 rdfs:label Oliguria Oligurie CANDIDATE -en nl HP:0100520 IAO:0000115 Low output of urine, clinically classified as an output below 300-500ml/day Low output of urine, clinically classified as an output below 300-500ml/day NOT_TRANSLATED -en nl HP:0002218 rdfs:label Silver-gray hair Zilver-grijs haar CANDIDATE -en nl HP:0002218 IAO:0000115 Hypopigmented hair that appears silver-gray Hypopigmented hair that appears silver-gray NOT_TRANSLATED -en nl HP:0100523 rdfs:label Liver abscess Lever abces CANDIDATE -en nl HP:0100523 IAO:0000115 The presence of an abscess of the liver The presence of an abscess of the liver NOT_TRANSLATED -en nl HP:0002219 rdfs:label Facial hypertrichosis Faciale hypertrichose CANDIDATE -en nl HP:0002219 IAO:0000115 Excessive, increased hair growth located in the facial region Excessive, increased hair growth located in the facial region NOT_TRANSLATED -en nl HP:0100522 rdfs:label Thymoma Thymoom CANDIDATE -en nl HP:0100522 IAO:0000115 A tumor originating from the epithelial cells of the thymus A tumor originating from the epithelial cells of the thymus NOT_TRANSLATED -en nl HP:0002220 rdfs:label Melanin pigment aggregation in hair shafts Melanine pigment aggregatie in haarschachten CANDIDATE -en nl HP:0100525 rdfs:label Urachus fistula Urachus fistel CANDIDATE -en nl HP:0100525 IAO:0000115 Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus NOT_TRANSLATED -en nl HP:0002221 rdfs:label Absent axillary hair Afwezig okselhaar CANDIDATE -en nl HP:0002221 IAO:0000115 Absence of axillary hair Absence of axillary hair NOT_TRANSLATED -en nl HP:0100524 rdfs:label Limb duplication Ledemaat duplicatie CANDIDATE -en nl HP:0100524 IAO:0000115 Congenital duplication of all or part of a limb Congenital duplication of all or part of a limb NOT_TRANSLATED -en nl HP:0100527 rdfs:label Neoplasia of the pleura Neoplasma van de pleura CANDIDATE -en nl HP:0002223 rdfs:label Absent eyebrow Afwezige wenkbrauw CANDIDATE -en nl HP:0002223 IAO:0000115 Absence of the eyebrow Absence of the eyebrow NOT_TRANSLATED -en nl HP:0100526 rdfs:label Neoplasm of the lung Neoplasma van de long CANDIDATE -en nl HP:0100526 IAO:0000115 Tumor of the lung Tumor of the lung NOT_TRANSLATED -en nl HP:0002224 rdfs:label Woolly hair Wollig haar CANDIDATE -en nl HP:0002224 IAO:0000115 The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED -en nl HP:0100529 rdfs:label Abnormal blood phosphate concentration Afwijking van de fosfaathuishouding CANDIDATE -en nl HP:0100529 IAO:0000115 An abnormality of phosphate homeostasis or concentration in the body An abnormality of phosphate homeostasis or concentration in the body NOT_TRANSLATED -en nl HP:0002225 rdfs:label Sparse pubic hair Spaarzaam schaamhaar CANDIDATE -en nl HP:0002225 IAO:0000115 Reduced number or density of pubic hair Reduced number or density of pubic hair NOT_TRANSLATED -en nl HP:0100528 rdfs:label Pleuropulmonary blastoma Pleuropulmonair blastoom CANDIDATE -en nl HP:0100528 IAO:0000115 A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant NOT_TRANSLATED -en nl HP:0002226 rdfs:label White eyebrow Witte wenkbrauw CANDIDATE -en nl HP:0002226 IAO:0000115 White color (lack of pigmentation) of the eyebrow White color (lack of pigmentation) of the eyebrow NOT_TRANSLATED -en nl HP:0100531 rdfs:label Wind-swept deformity of the knees Wind-swept deformity of the knees NOT_TRANSLATED -en nl HP:0100531 IAO:0000115 The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other NOT_TRANSLATED -en nl HP:0002227 rdfs:label White eyelashes Witte wimpers CANDIDATE -en nl HP:0002227 IAO:0000115 White color (lack of pigmentation) of the eyelashes White color (lack of pigmentation) of the eyelashes NOT_TRANSLATED -en nl HP:0100530 rdfs:label Abnormal calcium-phosphate regulating hormone level Afwijking van de calcium-fosfaathuishouding CANDIDATE -en nl HP:0100530 IAO:0000115 Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium NOT_TRANSLATED -en nl HP:0100533 rdfs:label Inflammatory abnormality of the eye Infectieuze afwijking van het oog CANDIDATE -en nl HP:0100533 IAO:0000115 Inflammation of the eye, parts of the eye or the periorbital region Inflammation of the eye, parts of the eye or the periorbital region NOT_TRANSLATED -en nl HP:0100532 rdfs:label Scleritis Scleritis CANDIDATE -en nl HP:0100532 IAO:0000115 Inflammation of the sclera Inflammation of the sclera NOT_TRANSLATED -en nl HP:0002230 rdfs:label Generalized hirsutism Gegeneraliseerde hirsutisme CANDIDATE -en nl HP:0002230 IAO:0000115 Abnormally increased hair growth over much of the entire body Abnormally increased hair growth over much of the entire body NOT_TRANSLATED -en nl HP:0100535 rdfs:label Tibiofibular diastasis Tibiofibulaire diastase CANDIDATE -en nl HP:0002231 rdfs:label Sparse body hair Spaarzaame lichaamsbeharing CANDIDATE -en nl HP:0002231 IAO:0000115 Sparseness of the body hair Sparseness of the body hair NOT_TRANSLATED -en nl HP:0100534 rdfs:label Episcleritis Episcleritis CANDIDATE -en nl HP:0100534 IAO:0000115 Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye NOT_TRANSLATED -en nl HP:0002232 rdfs:label Patchy alopecia Onregelmatige alopecia CANDIDATE -en nl HP:0002232 IAO:0000115 Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches NOT_TRANSLATED -en nl HP:0100537 rdfs:label Fasciitis Fasciitis CANDIDATE -en nl HP:0100537 IAO:0000115 Inflammation of fascia, the tissue under the skin and over the muscle Inflammation of fascia, the tissue under the skin and over the muscle NOT_TRANSLATED -en nl HP:0100536 rdfs:label Abnormality of the fascia Afwijking van de fascie CANDIDATE -en nl HP:0100536 IAO:0000115 An abnormality of fascia An abnormality of fascia NOT_TRANSLATED -en nl HP:0002234 rdfs:label Early balding Vroeg kalend CANDIDATE -en nl HP:0002234 IAO:0000115 Loss of scalp hair at an earlier than normal age Loss of scalp hair at an earlier than normal age NOT_TRANSLATED -en nl HP:0100539 rdfs:label Periorbital edema Periorbitaal oedeem CANDIDATE -en nl HP:0100539 IAO:0000115 Edema affecting the region situated around the orbit of the eye Edema affecting the region situated around the orbit of the eye NOT_TRANSLATED -en nl HP:0002235 rdfs:label Pili canaliculi Pili canaliculi CANDIDATE -en nl HP:0002235 IAO:0000115 Uncombable hair Uncombable hair NOT_TRANSLATED -en nl HP:0100538 rdfs:label Abnormality of the supraorbital ridges Afwijking van de supraorbitale plooien CANDIDATE -en nl HP:0100538 IAO:0000115 An anomaly of the supraorbital portion of the frontal bones An anomaly of the supraorbital portion of the frontal bones NOT_TRANSLATED -en nl HP:0002236 rdfs:label Frontal upsweep of hair Frontale stijging van haar CANDIDATE -en nl HP:0002236 IAO:0000115 Upward and/or sideward growth of anterior hair Upward and/or sideward growth of anterior hair NOT_TRANSLATED -en nl HP:0100541 rdfs:label Femoral hernia Femorale hernia CANDIDATE -en nl HP:0100541 IAO:0000115 A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal NOT_TRANSLATED -en nl HP:0100540 rdfs:label Palpebral edema Palpebraal oedeem CANDIDATE -en nl HP:0100540 IAO:0000115 Edema in the region of the eyelids Edema in the region of the eyelids NOT_TRANSLATED -en nl HP:0100543 rdfs:label Cognitive impairment Cognitieve verslechtering CANDIDATE -en nl HP:0100543 IAO:0000115 Abnormal cognition with deficits in thinking, reasoning, or remembering Abnormal cognition with deficits in thinking, reasoning, or remembering NOT_TRANSLATED -en nl HP:0002239 rdfs:label Gastrointestinal hemorrhage Gastro-intestinale bloeding CANDIDATE -en nl HP:0002239 IAO:0000115 Hemorrhage affecting the gastrointestinal tract Hemorrhage affecting the gastrointestinal tract NOT_TRANSLATED -en nl HP:0100542 rdfs:label Abnormal localization of kidney Abnormale lokalisatie van nier CANDIDATE -en nl HP:0100542 IAO:0000115 An abnormal site of the kidney An abnormal site of the kidney NOT_TRANSLATED -en nl HP:0002240 rdfs:label Hepatomegaly Hepatomegalie CANDIDATE -en nl HP:0002240 IAO:0000115 Abnormally increased size of the liver Abnormally increased size of the liver NOT_TRANSLATED -en nl HP:0100545 rdfs:label Arterial stenosis Arteriele stenose CANDIDATE -en nl HP:0100545 IAO:0000115 Narrowing or constriction of the inner surface (lumen) of an artery Narrowing or constriction of the inner surface (lumen) of an artery NOT_TRANSLATED -en nl HP:0100544 rdfs:label Neoplasm of the heart Neoplasma van het hart CANDIDATE -en nl HP:0100544 IAO:0000115 A tumor (abnormal growth of tissue) of the heart A tumor (abnormal growth of tissue) of the heart NOT_TRANSLATED -en nl HP:0002242 rdfs:label Abnormal intestine morphology Afwijking van de darm CANDIDATE -en nl HP:0002242 IAO:0000115 An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine NOT_TRANSLATED -en nl HP:0100547 rdfs:label Abnormal forebrain morphology Afwijking van de morfologie van het voorbrein CANDIDATE -en nl HP:0100547 IAO:0000115 An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle NOT_TRANSLATED -en nl HP:0002243 rdfs:label Protein-losing enteropathy Protein-losing enteropathie CANDIDATE -en nl HP:0002243 IAO:0000115 Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0100546 rdfs:label Carotid artery stenosis Arteria carotis stenose CANDIDATE -en nl HP:0100546 IAO:0000115 Narrowing of the carotid arteries Narrowing of the carotid arteries NOT_TRANSLATED -en nl HP:0002244 rdfs:label Abnormality of the small intestine Afwijking van de dunne darm CANDIDATE -en nl HP:0002244 IAO:0000115 An abnormality of the small intestine An abnormality of the small intestine NOT_TRANSLATED -en nl HP:0002245 rdfs:label Meckel diverticulum Meckel diverticulum CANDIDATE -en nl HP:0002245 IAO:0000115 Meckel's diverticulum is a congenital diverticulum located in the distal ileum Meckel's diverticulum is a congenital diverticulum located in the distal ileum NOT_TRANSLATED -en nl HP:0100548 rdfs:label Exstrophy Exstrophie CANDIDATE -en nl HP:0100548 IAO:0000115 Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall NOT_TRANSLATED -en nl HP:0002246 rdfs:label Abnormal duodenum morphology Afwijking van het duodenum CANDIDATE -en nl HP:0002246 IAO:0000115 An abnormality of the duodenum, i.e., the first section of the small intestine An abnormality of the duodenum, i.e., the first section of the small intestine NOT_TRANSLATED -en nl HP:0100551 rdfs:label Neoplasm of the trachea Neoplasma van de trachea CANDIDATE -en nl HP:0100551 IAO:0000115 A neoplasm of the trachea A neoplasm of the trachea NOT_TRANSLATED -en nl HP:0002247 rdfs:label Duodenal atresia Duodenum atresie CANDIDATE -en nl HP:0002247 IAO:0000115 A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum NOT_TRANSLATED -en nl HP:0100550 rdfs:label Tendon rupture Peesruptuur CANDIDATE -en nl HP:0100550 IAO:0000115 Breakage (tear) of a tendon Breakage (tear) of a tendon NOT_TRANSLATED -en nl HP:0002248 rdfs:label Hematemesis Hematemesis CANDIDATE -en nl HP:0002248 IAO:0000115 The vomiting of blood The vomiting of blood NOT_TRANSLATED -en nl HP:0100553 rdfs:label Hemihypertrophy of lower limb Hemihypertrofie van onderste ledemaat CANDIDATE -en nl HP:0100553 IAO:0000115 Overgrowth of only one leg Overgrowth of only one leg NOT_TRANSLATED -en nl HP:0002249 rdfs:label Melena Melena CANDIDATE -en nl HP:0002249 IAO:0000115 The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding NOT_TRANSLATED -en nl HP:0100552 rdfs:label Neoplasm of the tracheobronchial system Neoplasma van het tracheabronchiale systeem CANDIDATE -en nl HP:0002250 rdfs:label Abnormal large intestine morphology Afwijking van de dikke darm CANDIDATE -en nl HP:0002250 IAO:0000115 Any abnormality of the large intestine Any abnormality of the large intestine NOT_TRANSLATED -en nl HP:0100555 rdfs:label Asymmetric growth Asymmetrische groei CANDIDATE -en nl HP:0100555 IAO:0000115 A growth pattern that displays an abnormal difference between the left and the right side A growth pattern that displays an abnormal difference between the left and the right side NOT_TRANSLATED -en nl HP:0002251 rdfs:label Aganglionic megacolon Agangliotisch megacolon CANDIDATE -en nl HP:0002251 IAO:0000115 An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon NOT_TRANSLATED -en nl HP:0100554 rdfs:label Hemihypertrophy of upper limb Hemihypertrofie van bovenste ledemaat CANDIDATE -en nl HP:0100554 IAO:0000115 Overgrowth of only one arm Overgrowth of only one arm NOT_TRANSLATED -en nl HP:0100557 rdfs:label Hemiatrophy of lower limb Hemiatrofie van onderste ledemaat CANDIDATE -en nl HP:0100557 IAO:0000115 Unilateral atrophy (reduction in size) of a leg Unilateral atrophy (reduction in size) of a leg NOT_TRANSLATED -en nl HP:0002253 rdfs:label Colonic diverticula Divertikel van darm CANDIDATE -en nl HP:0002253 IAO:0000115 The presence of multiple diverticula of the colon The presence of multiple diverticula of the colon NOT_TRANSLATED -en nl HP:0100556 rdfs:label Hemiatrophy Hemiatrofie CANDIDATE -en nl HP:0100556 IAO:0000115 Undergrowth of the limbs that affects only one side Undergrowth of the limbs that affects only one side NOT_TRANSLATED -en nl HP:0002254 rdfs:label Intermittent diarrhea Intermitterende diarree CANDIDATE -en nl HP:0002254 IAO:0000115 Repeated episodes of diarrhea separated by periods without diarrhea Repeated episodes of diarrhea separated by periods without diarrhea NOT_TRANSLATED -en nl HP:0100559 rdfs:label Lower limb asymmetry Asymmetrie van de onderste ledematen CANDIDATE -en nl HP:0100559 IAO:0000115 A difference in length or diameter between the left and right leg A difference in length or diameter between the left and right leg NOT_TRANSLATED -en nl HP:0100558 rdfs:label Hemiatrophy of upper limb Hemiatrofie van bovenste ledemaat CANDIDATE -en nl HP:0100558 IAO:0000115 Unilateral atrophy (reduction in size) of an arm Unilateral atrophy (reduction in size) of an arm NOT_TRANSLATED -en nl HP:0002256 rdfs:label Small bowel diverticula Divertikel van dunne darm CANDIDATE -en nl HP:0100561 rdfs:label Spinal cord lesion Ruggenmerg lesie CANDIDATE -en nl HP:0002257 rdfs:label Chronic rhinitis Chronische rhinitis CANDIDATE -en nl HP:0002257 IAO:0000115 Chronic inflammation of the nasal mucosa Chronic inflammation of the nasal mucosa NOT_TRANSLATED -en nl HP:0100560 rdfs:label Upper limb asymmetry Asymmetrie van de bovenste ledematen CANDIDATE -en nl HP:0100560 IAO:0000115 Difference in length or size between the right and left arm Difference in length or size between the right and left arm NOT_TRANSLATED -en nl HP:0100563 rdfs:label Diastomatomyelia Diastematomyelie CANDIDATE -en nl HP:0100563 IAO:0000115 Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum NOT_TRANSLATED -en nl HP:0100562 rdfs:label Diplomyelia Diplomyelie CANDIDATE -en nl HP:0100562 IAO:0000115 Duplication of the spinal cord Duplication of the spinal cord NOT_TRANSLATED -en nl HP:0100565 rdfs:label Hydromyelia Hydromyelie CANDIDATE -en nl HP:0100565 IAO:0000115 Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo NOT_TRANSLATED -en nl HP:0100564 rdfs:label Triplomyelia Triplomyelie CANDIDATE -en nl HP:0100564 IAO:0000115 Triplication of the spinal cord - extremely rare Triplication of the spinal cord - extremely rare NOT_TRANSLATED -en nl HP:0002263 rdfs:label Exaggerated cupid's bow Overdreven cupidoboog CANDIDATE -en nl HP:0002263 IAO:0000115 More pronounced paramedian peaks and median notch of the Cupid's bow More pronounced paramedian peaks and median notch of the Cupid's bow NOT_TRANSLATED -en nl HP:0100566 rdfs:label Amyelia Amyelie CANDIDATE -en nl HP:0100566 IAO:0000115 Congenital absence of the spinal cord Congenital absence of the spinal cord NOT_TRANSLATED -en nl HP:0100569 rdfs:label Abnormally ossified vertebrae Abnormale vertebrale ossificatie CANDIDATE -en nl HP:0100569 IAO:0000115 An abnormality of the formation and mineralization of one or more vertebrae An abnormality of the formation and mineralization of one or more vertebrae NOT_TRANSLATED -en nl HP:0002265 rdfs:label Large fleshy ears Grote vlezige oren CANDIDATE -en nl HP:0100568 rdfs:label Neoplasm of the endocrine system Neoplasma van het endocriene systeem CANDIDATE -en nl HP:0100568 IAO:0000115 A tumor (abnormal growth of tissue) of the endocrine system A tumor (abnormal growth of tissue) of the endocrine system NOT_TRANSLATED -en nl HP:0002266 rdfs:label Focal clonic seizure Focale clonische aanvallen CANDIDATE -en nl HP:0002266 IAO:0000115 A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive NOT_TRANSLATED -en nl HP:0100571 rdfs:label Cardiac diverticulum Cardiaal divertikel CANDIDATE -en nl HP:0100571 IAO:0000115 A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular NOT_TRANSLATED -en nl HP:0002267 rdfs:label Exaggerated startle response Overdreven schrikreactie CANDIDATE -en nl HP:0002267 IAO:0000115 An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face NOT_TRANSLATED -en nl HP:0100570 rdfs:label Carcinoid tumor Carcinoïd tumor CANDIDATE -en nl HP:0100570 IAO:0000115 A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin NOT_TRANSLATED -en nl HP:0002268 rdfs:label Paroxysmal dystonia Paroxysmale dystonie CANDIDATE -en nl HP:0002268 IAO:0000115 A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes NOT_TRANSLATED -en nl HP:0100573 rdfs:label Muscular cardiac diverticulum Gespierd cardiaal divertikel CANDIDATE -en nl HP:0002269 rdfs:label Abnormality of neuronal migration Afwijking van de neurale migratie CANDIDATE -en nl HP:0002269 IAO:0000115 An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain NOT_TRANSLATED -en nl HP:0100572 rdfs:label Fibrous cardiac diverticulum Fibreus cardiaal divertikel CANDIDATE -en nl HP:0100572 IAO:0000115 A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly NOT_TRANSLATED -en nl HP:0002270 rdfs:label Abnormality of the autonomic nervous system Afwijking van het autonome zenuwstelsel CANDIDATE -en nl HP:0002270 IAO:0000115 An abnormality of the autonomic nervous system An abnormality of the autonomic nervous system NOT_TRANSLATED -en nl HP:0100575 rdfs:label Neoplasm of the gallbladder Neoplasma van de galblaas CANDIDATE -en nl HP:0100575 IAO:0000115 The presence of a neoplasm of the gallbladder The presence of a neoplasm of the gallbladder NOT_TRANSLATED -en nl HP:0100574 rdfs:label Biliary tract neoplasm Neoplasma van de galwegen CANDIDATE -en nl HP:0100574 IAO:0000115 A tumor (abnormal growth of tissue) of the biliary system A tumor (abnormal growth of tissue) of the biliary system NOT_TRANSLATED -en nl HP:0100577 rdfs:label Urinary bladder inflammation Blaasontsteking CANDIDATE -en nl HP:0100577 IAO:0000115 Inflammation of the urinary bladder Inflammation of the urinary bladder NOT_TRANSLATED -en nl HP:0002273 rdfs:label Tetraparesis Tetraparese CANDIDATE -en nl HP:0002273 IAO:0000115 Weakness of all four limbs Weakness of all four limbs NOT_TRANSLATED -en nl HP:0100576 rdfs:label Amaurosis fugax Amaurosis fugax CANDIDATE -en nl HP:0100576 IAO:0000115 A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition NOT_TRANSLATED -en nl HP:0100579 rdfs:label Mucosal telangiectasiae Mucosale telangiëctasie CANDIDATE -en nl HP:0100579 IAO:0000115 Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs NOT_TRANSLATED -en nl HP:0002275 rdfs:label Poor motor coordination Slechte motor coördinatie CANDIDATE -en nl HP:0100578 rdfs:label Lipoatrophy Lipoatrophie CANDIDATE -en nl HP:0100578 IAO:0000115 Localized loss of fat tissue Localized loss of fat tissue NOT_TRANSLATED -en nl HP:0100581 rdfs:label Dilatation of renal calices Dilatatie van nierkelken CANDIDATE -en nl HP:0100581 IAO:0000115 An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine NOT_TRANSLATED -en nl HP:0002277 rdfs:label Horner syndrome Horner syndroom CANDIDATE -en nl HP:0002277 IAO:0000115 An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection NOT_TRANSLATED -en nl HP:0100580 rdfs:label Barrett esophagus Barrett oesofagus CANDIDATE -en nl HP:0100580 IAO:0000115 An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system NOT_TRANSLATED -en nl HP:0100583 rdfs:label Corneal perforation Corneale perforatie CANDIDATE -en nl HP:0100583 IAO:0000115 A rupture of the cornea through which a portion of the iris protrudes A rupture of the cornea through which a portion of the iris protrudes NOT_TRANSLATED -en nl HP:0100582 rdfs:label Nasal polyposis Nasale polyposis CANDIDATE -en nl HP:0100582 IAO:0000115 Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis NOT_TRANSLATED -en nl HP:0002280 rdfs:label Enlarged cisterna magna Vergrote cisterna magna CANDIDATE -en nl HP:0002280 IAO:0000115 Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata NOT_TRANSLATED -en nl HP:0100585 rdfs:label Telangiectasia of the skin Teleangiëctasie van de huid CANDIDATE -en nl HP:0100585 IAO:0000115 Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions NOT_TRANSLATED -en nl HP:0100584 rdfs:label Endocarditis Endocarditis CANDIDATE -en nl HP:0100584 IAO:0000115 An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves NOT_TRANSLATED -en nl HP:0002282 rdfs:label Gray matter heterotopia Heterotopie CANDIDATE -en nl HP:0002282 IAO:0000115 Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter NOT_TRANSLATED -en nl HP:0100587 rdfs:label Abnormal preputium morphology Afwijking van het preputium CANDIDATE -en nl HP:0100587 IAO:0000115 An abnormality of the retractable fold of skin that covers the tip of the penis An abnormality of the retractable fold of skin that covers the tip of the penis NOT_TRANSLATED -en nl HP:0002283 rdfs:label Global brain atrophy Globale brein atrofie CANDIDATE -en nl HP:0002283 IAO:0000115 Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size NOT_TRANSLATED -en nl HP:0100586 rdfs:label Sterile pyuria Aseptische leukocyturie CANDIDATE -en nl HP:0100586 IAO:0000115 Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria NOT_TRANSLATED -en nl HP:0100589 rdfs:label Urogenital fistula Urogenitale fistel CANDIDATE -en nl HP:0100589 IAO:0000115 The presence of a fistula affecting the genitourinary system The presence of a fistula affecting the genitourinary system NOT_TRANSLATED -en nl HP:0100588 rdfs:label Paraphimosis Paraphimosis CANDIDATE -en nl HP:0100588 IAO:0000115 The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis NOT_TRANSLATED -en nl HP:0002286 rdfs:label Fair hair Blond haar CANDIDATE -en nl HP:0002286 IAO:0000115 A lesser degree of hair pigmentation than would otherwise be expected A lesser degree of hair pigmentation than would otherwise be expected NOT_TRANSLATED -en nl HP:0002287 rdfs:label Progressive alopecia Progressieve alopecia CANDIDATE -en nl HP:0002287 IAO:0000115 Progressive loss of hair Progressive loss of hair NOT_TRANSLATED -en nl HP:0100590 rdfs:label Rectal fistula Rectale fistel CANDIDATE -en nl HP:0100590 IAO:0000115 The presence of a fistula affecting the rectum The presence of a fistula affecting the rectum NOT_TRANSLATED -en nl HP:0100593 rdfs:label Calcification of cartilage Calcificatie van kraakbeen CANDIDATE -en nl HP:0100593 IAO:0000115 The presence of calcium deposition in cartilage The presence of calcium deposition in cartilage NOT_TRANSLATED -en nl HP:0002289 rdfs:label Alopecia universalis Alopecia universalis CANDIDATE -en nl HP:0002289 IAO:0000115 Loss of all hair on the entire body Loss of all hair on the entire body NOT_TRANSLATED -en nl HP:0100592 rdfs:label Peritoneal abscess Peritoneaal abces CANDIDATE -en nl HP:0100592 IAO:0000115 The presence of an abscess of the peritoneum The presence of an abscess of the peritoneum NOT_TRANSLATED -en nl HP:0002290 rdfs:label Poliosis Poliosis CANDIDATE -en nl HP:0002290 IAO:0000115 Circumscribed depigmentation of the hair of the head or the eyelashes Circumscribed depigmentation of the hair of the head or the eyelashes NOT_TRANSLATED -en nl HP:0100595 rdfs:label Camptocormia Camptocormie CANDIDATE -en nl HP:0100595 IAO:0000115 An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders NOT_TRANSLATED -en nl HP:0100594 rdfs:label Esophageal web Oesofageaal web CANDIDATE -en nl HP:0100594 IAO:0000115 Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare) Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare) NOT_TRANSLATED -en nl HP:0002292 rdfs:label Frontal balding Frontaal kalend CANDIDATE -en nl HP:0002292 IAO:0000115 Absence of hair in the anterior midline and/or parietal areas Absence of hair in the anterior midline and/or parietal areas NOT_TRANSLATED -en nl HP:0002293 rdfs:label Alopecia of scalp Alopecia van hoofdhuid CANDIDATE -en nl HP:0100596 rdfs:label Absent nares Afwezige neusgaten CANDIDATE -en nl HP:0100596 IAO:0000115 The nostrils (the paired channels of the nose) are not present The nostrils (the paired channels of the nose) are not present NOT_TRANSLATED -en nl HP:0100599 rdfs:label Bifid penis Bifide penis CANDIDATE -en nl HP:0100599 IAO:0000115 Two penile structures, separated from the tip to the base of the shaft Two penile structures, separated from the tip to the base of the shaft NOT_TRANSLATED -en nl HP:0100598 rdfs:label Pulmonary edema Pulmonaal oedeem CANDIDATE -en nl HP:0100598 IAO:0000115 Fluid accumulation in the lungs Fluid accumulation in the lungs NOT_TRANSLATED -en nl HP:0002296 rdfs:label Progressive hypotrichosis Progressieve hypotrichosis CANDIDATE -en nl HP:0002296 IAO:0000115 Progressively reduced or lacking hair growth Progressively reduced or lacking hair growth NOT_TRANSLATED -en nl HP:0100601 rdfs:label Eclampsia Eclampsie CANDIDATE -en nl HP:0100601 IAO:0000115 An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders NOT_TRANSLATED -en nl HP:0002297 rdfs:label Red hair Rood haar CANDIDATE -en nl HP:0100600 rdfs:label Penoscrotal transposition Penoscrotale transpositie CANDIDATE -en nl HP:0100600 IAO:0000115 A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis NOT_TRANSLATED -en nl HP:0002298 rdfs:label Absent hair Afwezig haar CANDIDATE -en nl HP:0100603 rdfs:label Toxemia of pregnancy Toxemia van zwangerschap CANDIDATE -en nl HP:0100603 IAO:0000115 Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia NOT_TRANSLATED -en nl HP:0002299 rdfs:label Brittle hair Bros haar CANDIDATE -en nl HP:0002299 IAO:0000115 Fragile, easily breakable hair, i.e., with reduced tensile strength Fragile, easily breakable hair, i.e., with reduced tensile strength NOT_TRANSLATED -en nl HP:0100602 rdfs:label Preeclampsia Pre-eclampsie CANDIDATE -en nl HP:0100602 IAO:0000115 Pregnancy-induced hypertension in association with significant amounts of protein in the urine Pregnancy-induced hypertension in association with significant amounts of protein in the urine NOT_TRANSLATED -en nl HP:0002300 rdfs:label Mutism Mutisme CANDIDATE -en nl HP:0100605 rdfs:label Neoplasm of the larynx Neoplasma van de larynx CANDIDATE -en nl HP:0002301 rdfs:label Hemiplegia Hemiplegie CANDIDATE -en nl HP:0002301 IAO:0000115 Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body NOT_TRANSLATED -en nl HP:0100604 rdfs:label Neoplasm of the lip Neoplasma van de lip CANDIDATE -en nl HP:0100604 IAO:0000115 A tumor (abnormal growth of tissue) of the lip A tumor (abnormal growth of tissue) of the lip NOT_TRANSLATED -en nl HP:0100607 rdfs:label Dysmenorrhea Dysmenorroe CANDIDATE -en nl HP:0100607 IAO:0000115 Pain during menstruation that interferes with daily activities Pain during menstruation that interferes with daily activities NOT_TRANSLATED -en nl HP:0100606 rdfs:label Neoplasm of the respiratory system Neoplasma van het respiratoire systeem CANDIDATE -en nl HP:0100606 IAO:0000115 A tumor (abnormal growth of tissue) of the respiratory system A tumor (abnormal growth of tissue) of the respiratory system NOT_TRANSLATED -en nl HP:0002304 rdfs:label Akinesia Akinesie CANDIDATE -en nl HP:0002304 IAO:0000115 Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily NOT_TRANSLATED -en nl HP:4000061 rdfs:label Pancreatic alpha-cell hyperplasia Pancreatic alpha-cell hyperplasia NOT_TRANSLATED -en nl HP:4000061 IAO:0000115 A diffuse and specific increase in the number of alpha-cells A diffuse and specific increase in the number of alpha-cells NOT_TRANSLATED -en nl HP:0002305 rdfs:label Athetosis Athetose CANDIDATE -en nl HP:0002305 IAO:0000115 A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest NOT_TRANSLATED -en nl HP:0100608 rdfs:label Metrorrhagia Metrorragie CANDIDATE -en nl HP:0100608 IAO:0000115 Bleeding at irregular intervals Bleeding at irregular intervals NOT_TRANSLATED -en nl HP:4000060 rdfs:label Abnormal pulmonary alveolar system development Abnormal pulmonary alveolar system development NOT_TRANSLATED -en nl HP:0100611 rdfs:label Multiple glomerular cysts Multipele glomerulaire cysten CANDIDATE -en nl HP:0100611 IAO:0000115 The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule NOT_TRANSLATED -en nl HP:0002307 rdfs:label Drooling Kwijlen CANDIDATE -en nl HP:0002307 IAO:0000115 Habitual flow of saliva out of the mouth Habitual flow of saliva out of the mouth NOT_TRANSLATED -en nl HP:0100610 rdfs:label Maternal hyperphenylalaninemia Maternale hyperfenylalaninemie CANDIDATE -en nl HP:0100610 IAO:0000115 A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy NOT_TRANSLATED -en nl HP:4000062 rdfs:label 3-4 metacarpal synostosis 3-4 metacarpal synostosis NOT_TRANSLATED -en nl HP:4000062 IAO:0000115 A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers) A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers) NOT_TRANSLATED -en nl HP:0002308 rdfs:label Chiari malformation Arnold-Chiari malformatie CANDIDATE -en nl HP:0002308 IAO:0000115 Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow NOT_TRANSLATED -en nl HP:0100613 rdfs:label Death in early adulthood Dood in vroege volwassenheid CANDIDATE -en nl HP:0100613 IAO:0000115 Death between the age of 16 and 40 years Death between the age of 16 and 40 years NOT_TRANSLATED -en nl HP:4000057 rdfs:label Decreased FasL-mediated apoptosis Decreased FasL-mediated apoptosis NOT_TRANSLATED -en nl HP:4000057 IAO:0000115 A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis NOT_TRANSLATED -en nl HP:0100612 rdfs:label Odontogenic neoplasm Odontogeen neoplasma CANDIDATE -en nl HP:0100612 IAO:0000115 Neoplasm involving odontogenic cells, an odontogenic tumor Neoplasm involving odontogenic cells, an odontogenic tumor NOT_TRANSLATED -en nl HP:4000056 rdfs:label Abnormal apoptosis Abnormal apoptosis NOT_TRANSLATED -en nl HP:4000056 IAO:0000115 Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response NOT_TRANSLATED -en nl HP:0002310 rdfs:label Orofacial dyskinesia Orofaciale dyskinesie CANDIDATE -en nl HP:0100615 rdfs:label Ovarian neoplasm Ovarieel neoplasma CANDIDATE -en nl HP:0100615 IAO:0000115 A tumor (abnormal growth of tissue) of the ovary A tumor (abnormal growth of tissue) of the ovary NOT_TRANSLATED -en nl HP:4000059 rdfs:label Abnormal lung development Abnormal lung development NOT_TRANSLATED -en nl HP:4000059 IAO:0000115 A structural defect associated with abnormal development of the lung A structural defect associated with abnormal development of the lung NOT_TRANSLATED -en nl HP:0002311 rdfs:label Incoordination Incoördinatie CANDIDATE -en nl HP:0100614 rdfs:label Myositis Myositis CANDIDATE -en nl HP:0100614 IAO:0000115 A general term for inflammation of the muscles without respect to the underlying cause A general term for inflammation of the muscles without respect to the underlying cause NOT_TRANSLATED -en nl HP:4000058 rdfs:label Glomerular proteinuria Glomerular proteinuria NOT_TRANSLATED -en nl HP:4000058 IAO:0000115 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 NOT_TRANSLATED -en nl HP:0002312 rdfs:label Clumsiness Onhandigheid CANDIDATE -en nl HP:0002312 IAO:0000115 Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects NOT_TRANSLATED -en nl HP:0100617 rdfs:label Testicular seminoma Testiculair seminoom CANDIDATE -en nl HP:0100617 IAO:0000115 The presence of a seminoma, an undifferentiated germ cell tumor of the testis The presence of a seminoma, an undifferentiated germ cell tumor of the testis NOT_TRANSLATED -en nl HP:4000053 rdfs:label Displaced fracture Displaced fracture NOT_TRANSLATED -en nl HP:4000053 IAO:0000115 A type of fracture in which the ends of the fractured bone are no longer aligned A type of fracture in which the ends of the fractured bone are no longer aligned NOT_TRANSLATED -en nl HP:0002313 rdfs:label Spastic paraparesis Spastische paraparese CANDIDATE -en nl HP:0100616 rdfs:label Testicular teratoma Testiculair teratoom CANDIDATE -en nl HP:0100616 IAO:0000115 The presence of a teratoma of the testis The presence of a teratoma of the testis NOT_TRANSLATED -en nl HP:4000052 rdfs:label Avulsion fracture Avulsion fracture NOT_TRANSLATED -en nl HP:4000052 IAO:0000115 A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma NOT_TRANSLATED -en nl HP:0002314 rdfs:label Degeneration of the lateral corticospinal tracts Degeneratie van de laterale corticospinale banen CANDIDATE -en nl HP:0002314 IAO:0000115 Deterioration of the tissues of the lateral corticospinal tracts Deterioration of the tissues of the lateral corticospinal tracts NOT_TRANSLATED -en nl HP:0100619 rdfs:label Sertoli cell neoplasm Sertoli cel neoplasma CANDIDATE -en nl HP:0100619 IAO:0000115 The presence of a neoplasm of the testis with origin in a Sertoli cell The presence of a neoplasm of the testis with origin in a Sertoli cell NOT_TRANSLATED -en nl HP:4000055 rdfs:label Intestinal inflammation Intestinal inflammation NOT_TRANSLATED -en nl HP:4000055 IAO:0000115 A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract NOT_TRANSLATED -en nl HP:0002315 rdfs:label Headache Hoofdpijn CANDIDATE -en nl HP:0002315 IAO:0000115 Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve NOT_TRANSLATED -en nl HP:0100618 rdfs:label Leydig cell neoplasia Leydig cellen neoplasie CANDIDATE -en nl HP:0100618 IAO:0000115 The presence of a neoplasm of the testis with origin in a Leydig cell The presence of a neoplasm of the testis with origin in a Leydig cell NOT_TRANSLATED -en nl HP:4000054 rdfs:label Exanthem Exanthem NOT_TRANSLATED -en nl HP:4000054 IAO:0000115 A widespread rash A widespread rash NOT_TRANSLATED -en nl HP:0100621 rdfs:label Dysgerminoma Dysgerminoom CANDIDATE -en nl HP:0100621 IAO:0000115 The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary NOT_TRANSLATED -en nl HP:4000049 rdfs:label Segmental fracture Segmental fracture NOT_TRANSLATED -en nl HP:4000049 IAO:0000115 A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone NOT_TRANSLATED -en nl HP:0002317 rdfs:label Unsteady gait Onvaste gang CANDIDATE -en nl HP:0100620 rdfs:label Germinoma Germinoom CANDIDATE -en nl HP:0100620 IAO:0000115 A type of undifferentiated germ cell tumor that may be benign or malignant A type of undifferentiated germ cell tumor that may be benign or malignant NOT_TRANSLATED -en nl HP:4000048 rdfs:label Comminuted fracture Comminuted fracture NOT_TRANSLATED -en nl HP:4000048 IAO:0000115 A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site NOT_TRANSLATED -en nl HP:0002318 rdfs:label Cervical myelopathy Cervicale myelopathie CANDIDATE -en nl HP:0100623 rdfs:label Abnormal corpus cavernosum morphology Afwijking van het corpus cavernosum CANDIDATE -en nl HP:0100623 IAO:0000115 A structural anomaly of the corpus cavernosum, the erectile tissue of the penis A structural anomaly of the corpus cavernosum, the erectile tissue of the penis NOT_TRANSLATED -en nl HP:4000051 rdfs:label Closed fracture Closed fracture NOT_TRANSLATED -en nl HP:4000051 IAO:0000115 A type of fracture in which the broken bone that does not penetrate the skin A type of fracture in which the broken bone that does not penetrate the skin NOT_TRANSLATED -en nl HP:0100622 rdfs:label Maternal seizure Maternale insulten CANDIDATE -en nl HP:0100622 IAO:0000115 A seizure during pregnancy A seizure during pregnancy NOT_TRANSLATED -en nl HP:4000050 rdfs:label Open fracture Open fracture NOT_TRANSLATED -en nl HP:4000050 IAO:0000115 A type of fracture in which there is an open wound or break in the skin near the site of the broken bone A type of fracture in which there is an open wound or break in the skin near the site of the broken bone NOT_TRANSLATED -en nl HP:0100625 rdfs:label Enlarged thorax Vergrote thorax CANDIDATE -en nl HP:4000045 rdfs:label Spiral fracture Spiral fracture NOT_TRANSLATED -en nl HP:4000045 IAO:0000115 A type of fracture in which the break spirals around the bone A type of fracture in which the break spirals around the bone NOT_TRANSLATED -en nl HP:0002321 rdfs:label Vertigo Vertigo CANDIDATE -en nl HP:0002321 IAO:0000115 An abnormal sensation of spinning while the body is actually stationary An abnormal sensation of spinning while the body is actually stationary NOT_TRANSLATED -en nl HP:0100624 rdfs:label Corpus cavernosum sclerosis Corpus cavernosum sclerose CANDIDATE -en nl HP:4000044 rdfs:label Transverse fracture Transverse fracture NOT_TRANSLATED -en nl HP:4000044 IAO:0000115 A type of fracture in which the break is in a straight line across the bone A type of fracture in which the break is in a straight line across the bone NOT_TRANSLATED -en nl HP:0002322 rdfs:label Resting tremor Rust tremor CANDIDATE -en nl HP:0002322 IAO:0000115 A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse NOT_TRANSLATED -en nl HP:0100627 rdfs:label Displacement of the urethral meatus Verplaatsing van de externe urethrale meatus CANDIDATE -en nl HP:0100627 IAO:0000115 A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina) A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina) NOT_TRANSLATED -en nl HP:4000047 rdfs:label Compression fracture Compression fracture NOT_TRANSLATED -en nl HP:4000047 IAO:0000115 A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance NOT_TRANSLATED -en nl HP:0002323 rdfs:label Anencephaly Anencefalie CANDIDATE -en nl HP:0002323 IAO:0000115 Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development NOT_TRANSLATED -en nl HP:0100626 rdfs:label Chronic hepatic failure Chronisch leverfalen CANDIDATE -en nl HP:4000046 rdfs:label Oblique fracture Oblique fracture NOT_TRANSLATED -en nl HP:4000046 IAO:0000115 A type of fracture in which there is a diagonal break across the bone A type of fracture in which there is a diagonal break across the bone NOT_TRANSLATED -en nl HP:0002324 rdfs:label Hydranencephaly Hydranencefalie CANDIDATE -en nl HP:0002324 IAO:0000115 A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue NOT_TRANSLATED -en nl HP:0100629 rdfs:label Midline facial cleft Faciale cleft in de middellijn CANDIDATE -en nl HP:0100629 IAO:0000115 A congenital malformation with a cleft (gap or opening) in the midline of the face A congenital malformation with a cleft (gap or opening) in the midline of the face NOT_TRANSLATED -en nl HP:4000041 rdfs:label AA amyloidosis AA amyloidosis NOT_TRANSLATED -en nl HP:4000041 IAO:0000115 Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant NOT_TRANSLATED -en nl HP:0100628 rdfs:label Esophageal diverticulum Oesofageaal diverticulum CANDIDATE -en nl HP:0100628 IAO:0000115 The presence of a diverticulum of the esophagus The presence of a diverticulum of the esophagus NOT_TRANSLATED -en nl HP:4000040 rdfs:label Puerpural onset Puerpural onset NOT_TRANSLATED -en nl HP:4000040 IAO:0000115 Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following NOT_TRANSLATED -en nl HP:0002326 rdfs:label Transient ischemic attack Transient ischemic attack CANDIDATE -en nl HP:0100631 rdfs:label Neoplasm of the adrenal gland Neoplasma van de bijnier CANDIDATE -en nl HP:0100631 IAO:0000115 A tumor (abnormal growth of tissue) of the adrenal gland A tumor (abnormal growth of tissue) of the adrenal gland NOT_TRANSLATED -en nl HP:4000043 rdfs:label Greenstick fracture Greenstick fracture NOT_TRANSLATED -en nl HP:4000043 IAO:0000115 A type of fracture in which the broken bone is not completely separated A type of fracture in which the broken bone is not completely separated NOT_TRANSLATED -en nl HP:0100630 rdfs:label Neoplasia of the nasopharynx Neoplasma van de nasofarynx CANDIDATE -en nl HP:4000042 rdfs:label Fracture type Fracture type NOT_TRANSLATED -en nl HP:4000042 IAO:0000115 Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110) Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110) NOT_TRANSLATED -en nl HP:0100633 rdfs:label Esophagitis Oesofagitis CANDIDATE -en nl HP:0100633 IAO:0000115 Inflammation of the esophagus Inflammation of the esophagus NOT_TRANSLATED -en nl HP:4000037 rdfs:label Congenital hydrocele Congenital hydrocele NOT_TRANSLATED -en nl HP:4000037 IAO:0000115 Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through NOT_TRANSLATED -en nl HP:0002329 rdfs:label Drowsiness Slaperigheid CANDIDATE -en nl HP:0002329 IAO:0000115 Excessive daytime sleepiness Excessive daytime sleepiness NOT_TRANSLATED -en nl HP:0100632 rdfs:label Pulmonary sequestration Pulmonale sequestratie CANDIDATE -en nl HP:0100632 IAO:0000115 The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration) The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration) NOT_TRANSLATED -en nl HP:4000036 rdfs:label Encysted hydrocele of the cord Encysted hydrocele of the cord NOT_TRANSLATED -en nl HP:4000036 IAO:0000115 A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it NOT_TRANSLATED -en nl HP:0002330 rdfs:label Paroxysmal drowsiness Paroxysmale slaperigheid CANDIDATE -en nl HP:0002330 IAO:0000115 Attacks of disabling daytime drowsiness and low alertness Attacks of disabling daytime drowsiness and low alertness NOT_TRANSLATED -en nl HP:0100635 rdfs:label Carotid paraganglioma Arteria carotis paraganglioom CANDIDATE -en nl HP:0100635 IAO:0000115 A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery NOT_TRANSLATED -en nl HP:4000039 rdfs:label Reduced proportion of mucosal-associated invariant T cells Reduced proportion of mucosal-associated invariant T cells NOT_TRANSLATED -en nl HP:4000039 IAO:0000115 A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count NOT_TRANSLATED -en nl HP:0002331 rdfs:label Recurrent paroxysmal headache Terugkerende paroxysmale hoofdpijn CANDIDATE -en nl HP:0002331 IAO:0000115 Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality NOT_TRANSLATED -en nl HP:0100634 rdfs:label Neuroendocrine neoplasm Neuroendocrien neoplasma CANDIDATE -en nl HP:0100634 IAO:0000115 A tumor that originates from a neuroendocrine cell A tumor that originates from a neuroendocrine cell NOT_TRANSLATED -en nl HP:4000038 rdfs:label Infantile hydrocele Infantile hydrocele NOT_TRANSLATED -en nl HP:4000038 IAO:0000115 Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation NOT_TRANSLATED -en nl HP:0002332 rdfs:label Lack of peer relationships Tekort aan relaties met naasten CANDIDATE -en nl HP:4000033 rdfs:label Non-spinning vertigo Non-spinning vertigo NOT_TRANSLATED -en nl HP:4000033 IAO:0000115 A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving) A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving) NOT_TRANSLATED -en nl HP:0002333 rdfs:label Motor deterioration Motore achteruitgang CANDIDATE -en nl HP:0002333 IAO:0000115 Loss of previously present motor (i.e., movement) abilities Loss of previously present motor (i.e., movement) abilities NOT_TRANSLATED -en nl HP:0100636 rdfs:label Pulmonary paraglioma Pulmonaal paraglioom CANDIDATE -en nl HP:0100636 IAO:0000115 A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells NOT_TRANSLATED -en nl HP:4000032 rdfs:label False perception of self-motion False perception of self-motion NOT_TRANSLATED -en nl HP:4000032 IAO:0000115 A perception that one's body is moving or swaying despite lack of motion of the body A perception that one's body is moving or swaying despite lack of motion of the body NOT_TRANSLATED -en nl HP:0002334 rdfs:label Abnormal cerebellar vermis morphology Afwijking van de vermis CANDIDATE -en nl HP:0002334 IAO:0000115 An anomaly of the vermis of cerebellum An anomaly of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0100639 rdfs:label Erectile dysfunction Erectiestoornissen CANDIDATE -en nl HP:0100639 IAO:0000115 A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological NOT_TRANSLATED -en nl HP:4000035 rdfs:label Primary obstructive megaureter Primary obstructive megaureter NOT_TRANSLATED -en nl HP:4000035 IAO:0000115 Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction NOT_TRANSLATED -en nl HP:0002335 rdfs:label Agenesis of cerebellar vermis Agenesie van de vermis CANDIDATE -en nl HP:0002335 IAO:0000115 Congenital absence of the vermis of cerebellum Congenital absence of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0100638 rdfs:label Neoplasm of the pharynx Neoplasma van de farnyx CANDIDATE -en nl HP:0100638 IAO:0000115 A neoplasm originating in the pharynx A neoplasm originating in the pharynx NOT_TRANSLATED -en nl HP:4000034 rdfs:label Infection-ssociated lymphopenia Infection-ssociated lymphopenia NOT_TRANSLATED -en nl HP:4000034 IAO:0000115 Decreased lymphocyte count during infections Decreased lymphocyte count during infections NOT_TRANSLATED -en nl HP:0100641 rdfs:label Neoplasm of the adrenal cortex Neoplasma van de bijnierschors CANDIDATE -en nl HP:0100641 IAO:0000115 The presence of a neoplasm of the adrenal cortex The presence of a neoplasm of the adrenal cortex NOT_TRANSLATED -en nl HP:4000029 rdfs:label Antigliadin antibody positivity Antigliadin antibody positivity NOT_TRANSLATED -en nl HP:4000029 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin NOT_TRANSLATED -en nl HP:0100640 rdfs:label Laryngeal cyst Laryngeale cyste CANDIDATE -en nl HP:0100640 IAO:0000115 Presence of a cyst (sac-like structure) located in the larynx Presence of a cyst (sac-like structure) located in the larynx NOT_TRANSLATED -en nl HP:4000028 rdfs:label Anti-LABD97 antibody positivity Anti-LABD97 antibody positivity NOT_TRANSLATED -en nl HP:4000028 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion NOT_TRANSLATED -en nl HP:0100643 rdfs:label Abnormality of nail color Afwijking van nagel kleur CANDIDATE -en nl HP:0100643 IAO:0000115 An anomaly of the color of the nail An anomaly of the color of the nail NOT_TRANSLATED -en nl HP:4000031 rdfs:label Anti-type VII collagen antibody Anti-type VII collagen antibody NOT_TRANSLATED -en nl HP:4000031 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII NOT_TRANSLATED -en nl HP:0002339 rdfs:label Abnormal caudate nucleus morphology Afwijking van de nucleus caudatus CANDIDATE -en nl HP:0002339 IAO:0000115 Any structural abnormality of the caudate nucleus Any structural abnormality of the caudate nucleus NOT_TRANSLATED -en nl HP:0100642 rdfs:label Neoplasm of the adrenal medulla Neoplasma van het bijniermerg CANDIDATE -en nl HP:0100642 IAO:0000115 The presence of a neoplasm of the adrenal medulla The presence of a neoplasm of the adrenal medulla NOT_TRANSLATED -en nl HP:4000030 rdfs:label Anti-reticulin antibody positivity Anti-reticulin antibody positivity NOT_TRANSLATED -en nl HP:4000030 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin NOT_TRANSLATED -en nl HP:0002340 rdfs:label Caudate atrophy Caudatus atrofie CANDIDATE -en nl HP:0100645 rdfs:label Cystocele Cystocele CANDIDATE -en nl HP:0100645 IAO:0000115 Anterior vaginal wall prolapse with bulging of the bladder into the vagina Anterior vaginal wall prolapse with bulging of the bladder into the vagina NOT_TRANSLATED -en nl HP:4000025 rdfs:label Anti-integrin antibody positivity Anti-integrin antibody positivity NOT_TRANSLATED -en nl HP:4000025 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth NOT_TRANSLATED -en nl HP:0002341 rdfs:label Cervical cord compression Cervicale ruggenmerg compressie CANDIDATE -en nl HP:0002341 IAO:0000115 Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness NOT_TRANSLATED -en nl HP:0100644 rdfs:label Melanonychia Melanonychia CANDIDATE -en nl HP:0100644 IAO:0000115 Brown or black discoloration of the nails Brown or black discoloration of the nails NOT_TRANSLATED -en nl HP:4000024 rdfs:label Anti-laminin antibody positivity Anti-laminin antibody positivity NOT_TRANSLATED -en nl HP:4000024 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane NOT_TRANSLATED -en nl HP:0002342 rdfs:label Intellectual disability, moderate Verstandelijke beperking, matig CANDIDATE -en nl HP:0002342 IAO:0000115 Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49 Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49 NOT_TRANSLATED -en nl HP:0100647 rdfs:label Graves disease Ziekte van Graves CANDIDATE -en nl HP:0100647 IAO:0000115 An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients NOT_TRANSLATED -en nl HP:4000027 rdfs:label anti-LAD-1 antibody positivity anti-LAD-1 antibody positivity NOT_TRANSLATED -en nl HP:4000027 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180 The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180 NOT_TRANSLATED -en nl HP:0002343 rdfs:label Normal pressure hydrocephalus Normal pressure hydrocephalus CANDIDATE -en nl HP:0002343 IAO:0000115 A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture NOT_TRANSLATED -en nl HP:0100646 rdfs:label Thyroiditis Thyroiditis CANDIDATE -en nl HP:0100646 IAO:0000115 Inflammation of the thyroid gland Inflammation of the thyroid gland NOT_TRANSLATED -en nl HP:4000026 rdfs:label Anti-transglutaminase 6 antibody Anti-transglutaminase 6 antibody NOT_TRANSLATED -en nl HP:4000026 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6 NOT_TRANSLATED -en nl HP:0002344 rdfs:label Progressive neurologic deterioration Progressieve neurologische achteruitgang CANDIDATE -en nl HP:0100649 rdfs:label Neoplasm of the oral cavity Neoplasma van de mondholte CANDIDATE -en nl HP:0100649 IAO:0000115 A tumor (abnormal growth of tissue) of the oral cavity A tumor (abnormal growth of tissue) of the oral cavity NOT_TRANSLATED -en nl HP:4000021 rdfs:label Anti-laminin 332 antibody positivity Anti-laminin 332 antibody positivity NOT_TRANSLATED -en nl HP:4000021 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332 NOT_TRANSLATED -en nl HP:0002345 rdfs:label Action tremor Actie tremor CANDIDATE -en nl HP:0002345 IAO:0000115 A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement NOT_TRANSLATED -en nl HP:0100648 rdfs:label Neoplasm of the tongue Neoplasma van de tong CANDIDATE -en nl HP:0100648 IAO:0000115 A tumor (abnormal growth of tissue) of the tongue A tumor (abnormal growth of tissue) of the tongue NOT_TRANSLATED -en nl HP:4000020 rdfs:label Anti-BP180 antibody positivity Anti-BP180 antibody positivity NOT_TRANSLATED -en nl HP:4000020 IAO:0000115 Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen NOT_TRANSLATED -en nl HP:0002346 rdfs:label Head tremor Hoofd tremor CANDIDATE -en nl HP:0002346 IAO:0000115 An unintentional, oscillating to-and-fro muscle movement affecting head movement An unintentional, oscillating to-and-fro muscle movement affecting head movement NOT_TRANSLATED -en nl HP:0100651 rdfs:label Type I diabetes mellitus Type 1 diabetes mellitus CANDIDATE -en nl HP:0100651 IAO:0000115 A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin NOT_TRANSLATED -en nl HP:4000023 rdfs:label Anti-laminin gamma1 antibody positivity Anti-laminin gamma1 antibody positivity NOT_TRANSLATED -en nl HP:4000023 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1 NOT_TRANSLATED -en nl HP:0100650 rdfs:label Vaginal neoplasm Vaginaal neoplasma CANDIDATE -en nl HP:0100650 IAO:0000115 A tumor (abnormal growth of tissue) of the vagina A tumor (abnormal growth of tissue) of the vagina NOT_TRANSLATED -en nl HP:4000022 rdfs:label Anti-laminin 6 antibody positivity Anti-laminin 6 antibody positivity NOT_TRANSLATED -en nl HP:4000022 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6 The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6 NOT_TRANSLATED -en nl HP:0100653 rdfs:label Optic neuritis Optische neuritis CANDIDATE -en nl HP:0100653 IAO:0000115 Inflammation of the optic nerve Inflammation of the optic nerve NOT_TRANSLATED -en nl HP:4000017 rdfs:label Anti-desmoplakin I antibody positivity Anti-desmoplakin I antibody positivity NOT_TRANSLATED -en nl HP:4000017 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1 NOT_TRANSLATED -en nl HP:0002349 rdfs:label Focal aware seizure Focale aanvallen zonder aantasting van bewustzijn CANDIDATE -en nl HP:0002349 IAO:0000115 A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile NOT_TRANSLATED -en nl HP:4000016 rdfs:label Anti-periplakin antibody positivity Anti-periplakin antibody positivity NOT_TRANSLATED -en nl HP:4000016 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin NOT_TRANSLATED -en nl HP:0002350 rdfs:label Cerebellar cyst Cerebellaire cyste CANDIDATE -en nl HP:4000019 rdfs:label Anti-BP230 antibody positivity Anti-BP230 antibody positivity NOT_TRANSLATED -en nl HP:4000019 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against BP230 The presence of autoantibodies (immunoglobulins) in the serum that react against BP230 NOT_TRANSLATED -en nl HP:0100654 rdfs:label Retrobulbar optic neuritis Retrobulbaire optische neuritis CANDIDATE -en nl HP:0100654 IAO:0000115 Optic neuritis that occurs in the section of the optic nerve located behind the eyeball Optic neuritis that occurs in the section of the optic nerve located behind the eyeball NOT_TRANSLATED -en nl HP:4000018 rdfs:label Anti-desmoplakin II antibody positivity Anti-desmoplakin II antibody positivity NOT_TRANSLATED -en nl HP:4000018 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II NOT_TRANSLATED -en nl HP:0002352 rdfs:label Leukoencephalopathy Leukencefalopathie CANDIDATE -en nl HP:0002352 IAO:0000115 This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells NOT_TRANSLATED -en nl HP:0100657 rdfs:label Thoracoabdominal eventration Thoracoabdominale eventratie CANDIDATE -en nl HP:0100657 IAO:0000115 Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls NOT_TRANSLATED -en nl HP:4000013 rdfs:label Anti-desmoglein-1 antibody positivity Anti-desmoglein-1 antibody positivity NOT_TRANSLATED -en nl HP:4000013 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule NOT_TRANSLATED -en nl HP:0002353 rdfs:label EEG abnormality EEG afwijking CANDIDATE -en nl HP:0002353 IAO:0000115 Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp NOT_TRANSLATED -en nl HP:0100656 rdfs:label Thoracoabdominal wall defect Thoracoabdominale wand defect CANDIDATE -en nl HP:0100656 IAO:0000115 Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development NOT_TRANSLATED -en nl HP:4000012 rdfs:label Necrotizing ileitis Necrotizing ileitis NOT_TRANSLATED -en nl HP:0002354 rdfs:label Memory impairment Geheugenstoornis CANDIDATE -en nl HP:0002354 IAO:0000115 An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness NOT_TRANSLATED -en nl HP:0100659 rdfs:label Abnormal cerebral vascular morphology Afwijking van de cerebraal vaatstelsel CANDIDATE -en nl HP:0100659 IAO:0000115 An anomaly of the cerebral blood vessels An anomaly of the cerebral blood vessels NOT_TRANSLATED -en nl HP:4000015 rdfs:label Anti-envoplakin antibody positivity Anti-envoplakin antibody positivity NOT_TRANSLATED -en nl HP:4000015 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions NOT_TRANSLATED -en nl HP:0002355 rdfs:label Difficulty walking Moeite met lopen CANDIDATE -en nl HP:0002355 IAO:0000115 Reduced ability to walk (ambulate) Reduced ability to walk (ambulate) NOT_TRANSLATED -en nl HP:0100658 rdfs:label Cellulitis Cellulitis CANDIDATE -en nl HP:0100658 IAO:0000115 A bacterial infection and inflammation of the skin und subcutaneous tissues A bacterial infection and inflammation of the skin und subcutaneous tissues NOT_TRANSLATED -en nl HP:4000014 rdfs:label Anti-desmoglein-3 antibody positivity Anti-desmoglein-3 antibody positivity NOT_TRANSLATED -en nl HP:4000014 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule NOT_TRANSLATED -en nl HP:0002356 rdfs:label Writer's cramp Schrijverskramp CANDIDATE -en nl HP:0002356 IAO:0000115 A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument NOT_TRANSLATED -en nl HP:0100661 rdfs:label Trigeminal neuralgia Trigeminus neuralgie CANDIDATE -en nl HP:0100661 IAO:0000115 A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected NOT_TRANSLATED -en nl HP:4000009 rdfs:label Kinesiophobia Kinesiophobia NOT_TRANSLATED -en nl HP:4000009 IAO:0000115 An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury NOT_TRANSLATED -en nl HP:0100660 rdfs:label Dyskinesia Dyskinesie CANDIDATE -en nl HP:0100660 IAO:0000115 A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements NOT_TRANSLATED -en nl HP:4000008 rdfs:label Formation of multiple pronuclei during fertilization Formation of multiple pronuclei during fertilization NOT_TRANSLATED -en nl HP:4000008 IAO:0000115 Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI NOT_TRANSLATED -en nl HP:0100663 rdfs:label Synotia Synotie CANDIDATE -en nl HP:0100663 IAO:0000115 A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw NOT_TRANSLATED -en nl HP:4000011 rdfs:label History of congenital HPV infection History of congenital HPV infection NOT_TRANSLATED -en nl HP:4000011 IAO:0000115 A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn NOT_TRANSLATED -en nl HP:0002359 rdfs:label Frequent falls Frequent vallen CANDIDATE -en nl HP:0100662 rdfs:label Chondritis Chondritis CANDIDATE -en nl HP:0100662 IAO:0000115 Inflammation of cartilage Inflammation of cartilage NOT_TRANSLATED -en nl HP:4000010 rdfs:label Impaired renal tubular reabsorption of bicarbonate Impaired renal tubular reabsorption of bicarbonate NOT_TRANSLATED -en nl HP:4000010 IAO:0000115 Decreased renal tubular reabsorption of bicarbonate Decreased renal tubular reabsorption of bicarbonate NOT_TRANSLATED -en nl HP:0002360 rdfs:label Sleep disturbance Slaapstoornis CANDIDATE -en nl HP:0002360 IAO:0000115 An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness NOT_TRANSLATED -en nl HP:0100665 rdfs:label Angioedema Angio-oedeem CANDIDATE -en nl HP:0100665 IAO:0000115 Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis NOT_TRANSLATED -en nl HP:4000005 rdfs:label Pericardial late gadolinium enhancement Pericardial late gadolinium enhancement NOT_TRANSLATED -en nl HP:4000005 IAO:0000115 Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium NOT_TRANSLATED -en nl HP:0002361 rdfs:label Psychomotor deterioration Psychomotorische achteruitgang CANDIDATE -en nl HP:0002361 IAO:0000115 Loss of previously present mental and motor abilities Loss of previously present mental and motor abilities NOT_TRANSLATED -en nl HP:4000004 rdfs:label Myocardial late gadolinium enhancement Myocardial late gadolinium enhancement NOT_TRANSLATED -en nl HP:4000004 IAO:0000115 Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium NOT_TRANSLATED -en nl HP:0002362 rdfs:label Shuffling gait Schuifelende gang CANDIDATE -en nl HP:0002362 IAO:0000115 A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground NOT_TRANSLATED -en nl HP:4000007 rdfs:label Bronchoconstriction Bronchoconstriction NOT_TRANSLATED -en nl HP:4000007 IAO:0000115 Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath NOT_TRANSLATED -en nl HP:0002363 rdfs:label Abnormal brainstem morphology Afwijking van de hersenstam morfologie CANDIDATE -en nl HP:0002363 IAO:0000115 An anomaly of the brainstem An anomaly of the brainstem NOT_TRANSLATED -en nl HP:4000006 rdfs:label Elevated myocardial native T1 Elevated myocardial native T1 NOT_TRANSLATED -en nl HP:4000006 IAO:0000115 Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity NOT_TRANSLATED -en nl HP:0100669 rdfs:label Abnormal pigmentation of the oral mucosa Afwijkende pigmentatie van de orale mucosa CANDIDATE -en nl HP:0100669 IAO:0000115 An abnormality of the pigmentation of the mucosa of the mouth An abnormality of the pigmentation of the mucosa of the mouth NOT_TRANSLATED -en nl HP:4000001 rdfs:label Abnormal cardiac magnetic resonance imaging finding Abnormal cardiac magnetic resonance imaging finding NOT_TRANSLATED -en nl HP:4000001 IAO:0000115 Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately NOT_TRANSLATED -en nl HP:0002365 rdfs:label Hypoplasia of the brainstem Hypoplasie van de hersenstam CANDIDATE -en nl HP:0002365 IAO:0000115 Underdevelopment of the brainstem Underdevelopment of the brainstem NOT_TRANSLATED -en nl HP:0100668 rdfs:label Intestinal duplication Intestinale duplicatie CANDIDATE -en nl HP:0100668 IAO:0000115 A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine NOT_TRANSLATED -en nl HP:0002366 rdfs:label Abnormal lower motor neuron morphology Abnormale onderste motor neuron morfologie CANDIDATE -en nl HP:0002366 IAO:0000115 Any structural anomaly of the lower motor neuron Any structural anomaly of the lower motor neuron NOT_TRANSLATED -en nl HP:0100671 rdfs:label Abnormal trabecular bone morphology Abnormaal trabeculair bot morfologie CANDIDATE -en nl HP:0100671 IAO:0000115 Abnormal structure or form of trabecular bone Abnormal structure or form of trabecular bone NOT_TRANSLATED -en nl HP:4000003 rdfs:label Elevated myocardial native T2 Elevated myocardial native T2 NOT_TRANSLATED -en nl HP:4000003 IAO:0000115 Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema NOT_TRANSLATED -en nl HP:0002367 rdfs:label Visual hallucinations Visuele hallucinaties CANDIDATE -en nl HP:0002367 IAO:0000115 Visual perceptions that are not elicited by a corresponding stimulus from the outside world Visual perceptions that are not elicited by a corresponding stimulus from the outside world NOT_TRANSLATED -en nl HP:0100670 rdfs:label Coarse metaphyseal trabecularization Ruwe trabeculatie CANDIDATE -en nl HP:0100670 IAO:0000115 Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms NOT_TRANSLATED -en nl HP:0100673 rdfs:label Vaginal hydrocele Vaginale hydrocele CANDIDATE -en nl HP:0100673 IAO:0000115 A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable NOT_TRANSLATED -en nl HP:4000125 rdfs:label Recent honey ingestion Recent honey ingestion NOT_TRANSLATED -en nl HP:4000125 IAO:0000115 A history of ingestion of honey in recent weeks A history of ingestion of honey in recent weeks NOT_TRANSLATED -en nl HP:0100672 rdfs:label Vaginal hernia Vaginale hernia CANDIDATE -en nl HP:0100672 IAO:0000115 The presence of a hernia of the vagina The presence of a hernia of the vagina NOT_TRANSLATED -en nl HP:4000124 rdfs:label High dietary oxalate intake High dietary oxalate intake NOT_TRANSLATED -en nl HP:4000124 IAO:0000115 A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb NOT_TRANSLATED -en nl HP:0002370 rdfs:label Poor coordination Slechte coördinatie CANDIDATE -en nl HP:0100675 rdfs:label Vaginal pyocele Vaginale pyocele CANDIDATE -en nl HP:4000127 rdfs:label Aggravated by sodium channel blocking agents Aggravated by sodium channel blocking agents NOT_TRANSLATED -en nl HP:4000127 IAO:0000115 Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide NOT_TRANSLATED -en nl HP:0002371 rdfs:label Loss of speech Velies van spraak CANDIDATE -en nl HP:0100674 rdfs:label Vaginal hematocele Vaginale hematocele CANDIDATE -en nl HP:4000126 rdfs:label Raw egg-white ingestion Raw egg-white ingestion NOT_TRANSLATED -en nl HP:4000126 IAO:0000115 A history of eating raw egg whites A history of eating raw egg whites NOT_TRANSLATED -en nl HP:0002372 rdfs:label Normal interictal EEG Normaal interictaal EEG CANDIDATE -en nl HP:0002372 IAO:0000115 Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis NOT_TRANSLATED -en nl HP:0100677 rdfs:label Vulval varicose vein Vulvale spatader CANDIDATE -en nl HP:0100677 IAO:0000115 Varicosity of veins in the vulval region Varicosity of veins in the vulval region NOT_TRANSLATED -en nl HP:4000121 rdfs:label Triggered by poison ivy, poson oak, or sumac Triggered by poison ivy, poson oak, or sumac NOT_TRANSLATED -en nl HP:4000121 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis NOT_TRANSLATED -en nl HP:0002373 rdfs:label Febrile seizure (within the age range of 3 months to 6 years) Koortstuipen CANDIDATE -en nl HP:0002373 IAO:0000115 A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years NOT_TRANSLATED -en nl HP:0100676 rdfs:label Vaginal lymphocele Vaginale lymfocele CANDIDATE -en nl HP:4000120 rdfs:label Triggered by nickel Triggered by nickel NOT_TRANSLATED -en nl HP:0002374 rdfs:label Diminished movement Verminderde beweging CANDIDATE -en nl HP:0100679 rdfs:label Lack of skin elasticity Tekort aan huid elasticiteit CANDIDATE -en nl HP:4000123 rdfs:label Nutrition history Nutrition history NOT_TRANSLATED -en nl HP:4000123 IAO:0000115 A part of the past medical history consisting of information about the typical food intake of an individual A part of the past medical history consisting of information about the typical food intake of an individual NOT_TRANSLATED -en nl HP:0002375 rdfs:label Hypokinesia Hypokinesie CANDIDATE -en nl HP:0002375 IAO:0000115 Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency NOT_TRANSLATED -en nl HP:0100678 rdfs:label Premature skin wrinkling Premature huid rimpeling CANDIDATE -en nl HP:0100678 IAO:0000115 The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms NOT_TRANSLATED -en nl HP:4000122 rdfs:label History of exclusive breast feeding History of exclusive breast feeding NOT_TRANSLATED -en nl HP:4000122 IAO:0000115 A past medical history of having been fed exclusively by breast feeding A past medical history of having been fed exclusively by breast feeding NOT_TRANSLATED -en nl HP:0002376 rdfs:label Developmental regression Regressie in ontwikkeling CANDIDATE -en nl HP:0002376 IAO:0000115 Loss of developmental skills, as manifested by loss of developmental milestones Loss of developmental skills, as manifested by loss of developmental milestones NOT_TRANSLATED -en nl HP:0100681 rdfs:label Esophageal duplication Oesofageale duplicatie CANDIDATE -en nl HP:0100681 IAO:0000115 A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication NOT_TRANSLATED -en nl HP:4000117 rdfs:label Valproate exposure Valproate exposure NOT_TRANSLATED -en nl HP:4000117 IAO:0000115 History of having taken valproate (valproic acid) History of having taken valproate (valproic acid) NOT_TRANSLATED -en nl HP:4000116 rdfs:label Carbamazepine exposure Carbamazepine exposure NOT_TRANSLATED -en nl HP:4000116 IAO:0000115 History of having taken carbamazepine History of having taken carbamazepine NOT_TRANSLATED -en nl HP:0002378 rdfs:label Hand tremor Hand tremor CANDIDATE -en nl HP:0002378 IAO:0000115 An unintentional, oscillating to-and-fro muscle movement affecting the hand An unintentional, oscillating to-and-fro muscle movement affecting the hand NOT_TRANSLATED -en nl HP:4000119 rdfs:label Calcium channel blocker exposure Calcium channel blocker exposure NOT_TRANSLATED -en nl HP:4000119 IAO:0000115 History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem NOT_TRANSLATED -en nl HP:0100682 rdfs:label Tracheal atresia Tracheale atresie CANDIDATE -en nl HP:0100682 IAO:0000115 A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking NOT_TRANSLATED -en nl HP:4000118 rdfs:label Hydralazine exposure Hydralazine exposure NOT_TRANSLATED -en nl HP:4000118 IAO:0000115 History of having taken hydralazine History of having taken hydralazine NOT_TRANSLATED -en nl HP:0002380 rdfs:label Fasciculations Fasciculaties CANDIDATE -en nl HP:0002380 IAO:0000115 Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units NOT_TRANSLATED -en nl HP:0100685 rdfs:label Abnormal Sharpey fiber morphology Afwijking van de sharpeyvezels CANDIDATE -en nl HP:0100685 IAO:0000115 An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone NOT_TRANSLATED -en nl HP:4000113 rdfs:label Aminoglycoside exposure Aminoglycoside exposure NOT_TRANSLATED -en nl HP:4000113 IAO:0000115 History of having taken aminoglycoside antibiotics History of having taken aminoglycoside antibiotics NOT_TRANSLATED -en nl HP:0002381 rdfs:label Aphasia Afasie CANDIDATE -en nl HP:0002381 IAO:0000115 An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write NOT_TRANSLATED -en nl HP:0100684 rdfs:label Salivary gland neoplasm Speekselklier neoplasma CANDIDATE -en nl HP:0100684 IAO:0000115 A tumor (abnormal growth of tissue) of a salivary gland A tumor (abnormal growth of tissue) of a salivary gland NOT_TRANSLATED -en nl HP:4000112 rdfs:label Medication history Medication history NOT_TRANSLATED -en nl HP:4000112 IAO:0000115 Information about current or past medications taken by an individual Information about current or past medications taken by an individual NOT_TRANSLATED -en nl HP:0100687 rdfs:label Polyotia Polyotie CANDIDATE -en nl HP:0100687 IAO:0000115 The presence of an extra auricle on one or both sides of the head The presence of an extra auricle on one or both sides of the head NOT_TRANSLATED -en nl HP:4000115 rdfs:label Potassium-sparing diuretic exposure Potassium-sparing diuretic exposure NOT_TRANSLATED -en nl HP:4000115 IAO:0000115 History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene NOT_TRANSLATED -en nl HP:0002383 rdfs:label Infectious encephalitis Encefalitis CANDIDATE -en nl HP:0002383 IAO:0000115 A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity NOT_TRANSLATED -en nl HP:0100686 rdfs:label Enthesitis Enthesitis CANDIDATE -en nl HP:4000114 rdfs:label Statin exposure Statin exposure NOT_TRANSLATED -en nl HP:4000114 IAO:0000115 History of having taken statins, also known as HMG-CoA reductase inhibitors History of having taken statins, also known as HMG-CoA reductase inhibitors NOT_TRANSLATED -en nl HP:0002384 rdfs:label Focal impaired awareness seizure Focale aanvallen met aantasting van bewustzijn CANDIDATE -en nl HP:0002384 IAO:0000115 Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure NOT_TRANSLATED -en nl HP:0100689 rdfs:label Decreased corneal thickness Afgenomen corneale dikte CANDIDATE -en nl HP:0100689 IAO:0000115 A decreased anteroposterior thickness of the cornea A decreased anteroposterior thickness of the cornea NOT_TRANSLATED -en nl HP:4000109 rdfs:label Triggered by electromagnetic field Triggered by electromagnetic field NOT_TRANSLATED -en nl HP:4000109 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field NOT_TRANSLATED -en nl HP:0002385 rdfs:label Paraparesis Paraparese CANDIDATE -en nl HP:0002385 IAO:0000115 Weakness or partial paralysis in the lower limbs Weakness or partial paralysis in the lower limbs NOT_TRANSLATED -en nl HP:4000108 rdfs:label Bone marrow erythroid vacuolization Bone marrow erythroid vacuolization NOT_TRANSLATED -en nl HP:4000108 IAO:0000115 Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow NOT_TRANSLATED -en nl HP:0100691 rdfs:label Abnormality of the curvature of the cornea Afwijking van de kromming van de cornea CANDIDATE -en nl HP:4000111 rdfs:label Asbestos exposure Asbestos exposure NOT_TRANSLATED -en nl HP:4000111 IAO:0000115 History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation NOT_TRANSLATED -en nl HP:0100690 rdfs:label Mosaic central corneal dystrophy Mozaïek centrale cornea dystrofie CANDIDATE -en nl HP:4000110 rdfs:label Exposure history Exposure history NOT_TRANSLATED -en nl HP:4000110 IAO:0000115 Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home NOT_TRANSLATED -en nl HP:0100693 rdfs:label Iridodonesis Iridodonesis CANDIDATE -en nl HP:0100693 IAO:0000115 Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens NOT_TRANSLATED -en nl HP:4000105 rdfs:label Abnormal four chamber view of the fetal heart Abnormal four chamber view of the fetal heart NOT_TRANSLATED -en nl HP:4000105 IAO:0000115 The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging NOT_TRANSLATED -en nl HP:0002389 rdfs:label Cavum septum pellucidum Cavum septum pellucidum CANDIDATE -en nl HP:0002389 IAO:0000115 If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space NOT_TRANSLATED -en nl HP:0100692 rdfs:label Increased corneal curvature Toegenomen corneale kromming CANDIDATE -en nl HP:0100692 IAO:0000115 An increase in the degree of curvature of the cornea compared to normal An increase in the degree of curvature of the cornea compared to normal NOT_TRANSLATED -en nl HP:4000104 rdfs:label Curved dental root Curved dental root NOT_TRANSLATED -en nl HP:4000104 IAO:0000115 A root of a tooth that is more rounded than normal A root of a tooth that is more rounded than normal NOT_TRANSLATED -en nl HP:0002390 rdfs:label Spinal arteriovenous malformation Spinale arterioveneuze malformatie CANDIDATE -en nl HP:0100695 rdfs:label Lipedema Lipoedeem CANDIDATE -en nl HP:0100695 IAO:0000115 Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise NOT_TRANSLATED -en nl HP:4000107 rdfs:label Positive lupus band test Positive lupus band test NOT_TRANSLATED -en nl HP:4000107 IAO:0000115 Deposits of immunoglobulins and complement components along the dermoepidermal junction Deposits of immunoglobulins and complement components along the dermoepidermal junction NOT_TRANSLATED -en nl HP:0100694 rdfs:label Tibial torsion Torsie van de tibia CANDIDATE -en nl HP:0100694 IAO:0000115 Twisted position of the tibia (shin bone) associated with pathological rotation of the leg Twisted position of the tibia (shin bone) associated with pathological rotation of the leg NOT_TRANSLATED -en nl HP:4000106 rdfs:label Spleen hamartoma Spleen hamartoma NOT_TRANSLATED -en nl HP:4000106 IAO:0000115 A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen NOT_TRANSLATED -en nl HP:0002392 rdfs:label EEG with polyspike wave complexes EEG with polyspike wave complexes NOT_TRANSLATED -en nl HP:0002392 IAO:0000115 The presence of complexes of repetitive spikes and waves in EEG The presence of complexes of repetitive spikes and waves in EEG NOT_TRANSLATED -en nl HP:0100697 rdfs:label Neurofibrosarcoma Neurofibrosarcoom CANDIDATE -en nl HP:0100697 IAO:0000115 A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma NOT_TRANSLATED -en nl HP:4000101 rdfs:label Triggered by exposure to medication Triggered by exposure to medication NOT_TRANSLATED -en nl HP:4000101 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to a medication Applies to a sign or symptom that is provoked or brought about by exposure to a medication NOT_TRANSLATED -en nl HP:4000100 rdfs:label Positive lactose hydrogen breath test Positive lactose hydrogen breath test NOT_TRANSLATED -en nl HP:4000100 IAO:0000115 Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas NOT_TRANSLATED -en nl HP:0100699 rdfs:label Scarring Littekenvorming CANDIDATE -en nl HP:0100699 IAO:0000115 A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed NOT_TRANSLATED -en nl HP:4000103 rdfs:label Ameliorated by oral zinc supplementation Ameliorated by oral zinc supplementation NOT_TRANSLATED -en nl HP:4000103 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation NOT_TRANSLATED -en nl HP:0002395 rdfs:label Lower limb hyperreflexia Onderste ledematen hyperreflexie CANDIDATE -en nl HP:0100698 rdfs:label Subcutaneous neurofibromas Subcutane neurofibromen CANDIDATE -en nl HP:0100698 IAO:0000115 The presence of Neurofibromas in the subcutis The presence of Neurofibromas in the subcutis NOT_TRANSLATED -en nl HP:4000102 rdfs:label Triggered by allopurinol Triggered by allopurinol NOT_TRANSLATED -en nl HP:4000102 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol NOT_TRANSLATED -en nl HP:0002396 rdfs:label Cogwheel rigidity Tandradrigiditeit CANDIDATE -en nl HP:0002396 IAO:0000115 A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched) A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched) NOT_TRANSLATED -en nl HP:0100701 rdfs:label Abnormal pia mater Afwijking van het pia mater CANDIDATE -en nl HP:0100701 IAO:0000115 An abnormality of the pia mater An abnormality of the pia mater NOT_TRANSLATED -en nl HP:0100700 rdfs:label Abnormal arachnoid mater morphology Afwijking van de arachnoides CANDIDATE -en nl HP:0100700 IAO:0000115 An abnormality of the Arachnoid mater An abnormality of the Arachnoid mater NOT_TRANSLATED -en nl HP:0002398 rdfs:label Degeneration of anterior horn cells Degeneratie van de voorhoorncellen CANDIDATE -en nl HP:0100703 rdfs:label Tongue thrusting Tong stoten CANDIDATE -en nl HP:0100702 rdfs:label Arachnoid cyst Arachnoïdale cyste CANDIDATE -en nl HP:0100702 IAO:0000115 An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid NOT_TRANSLATED -en nl HP:0100705 rdfs:label Abnormal glial cell morphology Afwijking van de gliale cellen CANDIDATE -en nl HP:0100705 IAO:0000115 An abnormality of the glia cell An abnormality of the glia cell NOT_TRANSLATED -en nl HP:4000093 rdfs:label Ectopic tooth eruption Ectopic tooth eruption NOT_TRANSLATED -en nl HP:4000093 IAO:0000115 A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth NOT_TRANSLATED -en nl HP:0002401 rdfs:label Stroke-like episode Stroke-like episode CANDIDATE -en nl HP:0002401 IAO:0000115 No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours NOT_TRANSLATED -en nl HP:0100704 rdfs:label Cerebral visual impairment Corticale visuele beperking CANDIDATE -en nl HP:0100704 IAO:0000115 A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye NOT_TRANSLATED -en nl HP:4000092 rdfs:label Poor conversational reciprocity Poor conversational reciprocity NOT_TRANSLATED -en nl HP:4000092 IAO:0000115 Reduced ability to conduct a reciprocal (back and forth) conversation characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable Reduced ability to conduct a reciprocal (back and forth) conversation characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable NOT_TRANSLATED -en nl HP:0100707 rdfs:label Abnormal astrocyte morphology Afwijking van de astrocyten CANDIDATE -en nl HP:0100707 IAO:0000115 An abnormality of astrocytes An abnormality of astrocytes NOT_TRANSLATED -en nl HP:4000095 rdfs:label Elevated circulating thymine concentration Elevated circulating thymine concentration NOT_TRANSLATED -en nl HP:4000095 IAO:0000115 Concentration of the nucleobase thymine in the blood circulation above the normal range Concentration of the nucleobase thymine in the blood circulation above the normal range NOT_TRANSLATED -en nl HP:0002403 rdfs:label Positive Romberg sign Positief teken van Romberg CANDIDATE -en nl HP:0002403 IAO:0000115 The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception NOT_TRANSLATED -en nl HP:0100706 rdfs:label Abnormal oligodendroglia morphology Afwijking van de oligodendrocyten CANDIDATE -en nl HP:0100706 IAO:0000115 One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers NOT_TRANSLATED -en nl HP:4000094 rdfs:label Corpus cavernosum hypoplasia Corpus cavernosum hypoplasia NOT_TRANSLATED -en nl HP:4000094 IAO:0000115 A developmental anomaly characterized by undergrowth of the corpus cavernosum A developmental anomaly characterized by undergrowth of the corpus cavernosum NOT_TRANSLATED -en nl HP:0002404 rdfs:label Thickened superior cerebellar peduncle Verdikte superieure cerebellaire peduncle CANDIDATE -en nl HP:0002404 IAO:0000115 Increased width of the superior cerebellar peduncle Increased width of the superior cerebellar peduncle NOT_TRANSLATED -en nl HP:0100709 rdfs:label Reduction of oligodendroglia Reductie van oligodendrocyten CANDIDATE -en nl HP:4000089 rdfs:label Atypical facial expressions Atypical facial expressions NOT_TRANSLATED -en nl HP:4000089 IAO:0000115 Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions NOT_TRANSLATED -en nl HP:0100708 rdfs:label Abnormal microglia morphology Afwijking van de microglia CANDIDATE -en nl HP:0100708 IAO:0000115 An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells NOT_TRANSLATED -en nl HP:4000088 rdfs:label Context-inappropriate facial expressions Context-inappropriate facial expressions NOT_TRANSLATED -en nl HP:4000088 IAO:0000115 Production of facial expressions that are misaligned with the social context Production of facial expressions that are misaligned with the social context NOT_TRANSLATED -en nl HP:0002406 rdfs:label Limb dysmetria Ledematen dysmetrie CANDIDATE -en nl HP:0002406 IAO:0000115 A type of dysmetria involving the limbs A type of dysmetria involving the limbs NOT_TRANSLATED -en nl HP:0100711 rdfs:label Abnormal thoracic spine morphology Afwijking van de thoracale wervelkolom CANDIDATE -en nl HP:0100711 IAO:0000115 An abnormality of the thoracic vertebral column An abnormality of the thoracic vertebral column NOT_TRANSLATED -en nl HP:0100710 rdfs:label Impulsivity Impulsiviteit CANDIDATE -en nl HP:0100710 IAO:0000115 Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress NOT_TRANSLATED -en nl HP:4000090 rdfs:label Abnormal gesture use Abnormal gesture use NOT_TRANSLATED -en nl HP:4000090 IAO:0000115 Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture which replace or supplement verbal communication Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture which replace or supplement verbal communication NOT_TRANSLATED -en nl HP:0002408 rdfs:label Cerebral arteriovenous malformation Cerebrale arterioveneuze malformatie CANDIDATE -en nl HP:0002408 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain NOT_TRANSLATED -en nl HP:4000085 rdfs:label Reduced object sharing Reduced object sharing NOT_TRANSLATED -en nl HP:4000085 IAO:0000115 An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life NOT_TRANSLATED -en nl HP:0100712 rdfs:label Abnormal lumbar spine morphology Afwijking van de lumbale wervelkolom CANDIDATE -en nl HP:0100712 IAO:0000115 Any structural abnormality of the lumbar vertebral column Any structural abnormality of the lumbar vertebral column NOT_TRANSLATED -en nl HP:4000084 rdfs:label Reduced sharing of interests Reduced sharing of interests NOT_TRANSLATED -en nl HP:4000084 IAO:0000115 Decreased sharing of interests with others Decreased sharing of interests with others NOT_TRANSLATED -en nl HP:0002410 rdfs:label Aqueductal stenosis Aquaduct stenose CANDIDATE -en nl HP:0002410 IAO:0000115 Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum NOT_TRANSLATED -en nl HP:4000087 rdfs:label Abnormal facial expression use Abnormal facial expression use NOT_TRANSLATED -en nl HP:4000087 IAO:0000115 Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers) comprising abnormalities of quantity, range, context-appropriateness, and quality Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers) comprising abnormalities of quantity, range, context-appropriateness, and quality NOT_TRANSLATED -en nl HP:0002411 rdfs:label Myokymia Myokymie CANDIDATE -en nl HP:0002411 IAO:0000115 Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle NOT_TRANSLATED -en nl HP:0100717 rdfs:label Abnormal cementum morphology Afwijking van het cement CANDIDATE -en nl HP:0100717 IAO:0000115 Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root) Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root) NOT_TRANSLATED -en nl HP:4000081 rdfs:label Reduced use of typical gestures Reduced use of typical gestures NOT_TRANSLATED -en nl HP:4000081 IAO:0000115 A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes NOT_TRANSLATED -en nl HP:0100716 rdfs:label Self-injurious behavior Zelfbeschadigend gedrag CANDIDATE -en nl HP:0100716 IAO:0000115 Aggression towards oneself Aggression towards oneself NOT_TRANSLATED -en nl HP:4000080 rdfs:label Lack of social initiations Lack of social initiations NOT_TRANSLATED -en nl HP:4000080 IAO:0000115 Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party NOT_TRANSLATED -en nl HP:0002414 rdfs:label Spina bifida Spina bifida CANDIDATE -en nl HP:0002414 IAO:0000115 Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele NOT_TRANSLATED -en nl HP:0100719 rdfs:label Lens coloboma Lens coloboom CANDIDATE -en nl HP:0100719 IAO:0000115 A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence NOT_TRANSLATED -en nl HP:4000083 rdfs:label Absence of interest in peers Absence of interest in peers NOT_TRANSLATED -en nl HP:4000083 IAO:0000115 Lack of interest of an individual for peers of comparable age and social groups Lack of interest of an individual for peers of comparable age and social groups NOT_TRANSLATED -en nl HP:0002415 rdfs:label Leukodystrophy Leukodystrofie CANDIDATE -en nl HP:0002415 IAO:0000115 Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies NOT_TRANSLATED -en nl HP:0100718 rdfs:label Uterine rupture Baarmoeder ruptuur CANDIDATE -en nl HP:4000082 rdfs:label Reduced collaborative play Reduced collaborative play NOT_TRANSLATED -en nl HP:4000082 IAO:0000115 Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5 Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5 NOT_TRANSLATED -en nl HP:0002416 rdfs:label Subependymal cysts Supependymale cysten CANDIDATE -en nl HP:0002416 IAO:0000115 Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life NOT_TRANSLATED -en nl HP:0100721 rdfs:label Mediastinal lymphadenopathy Mediastinale lymfadenopathie CANDIDATE -en nl HP:0100721 IAO:0000115 Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes NOT_TRANSLATED -en nl HP:4000077 rdfs:label Fixated interest with abnormal focus Fixated interest with abnormal focus NOT_TRANSLATED -en nl HP:4000077 IAO:0000115 A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners NOT_TRANSLATED -en nl HP:0100720 rdfs:label Hypoplasia of the ear cartilage Hypoplasie van het oor kraakbeen CANDIDATE -en nl HP:4000076 rdfs:label Hand-leading gestures Hand-leading gestures NOT_TRANSLATED -en nl HP:4000076 IAO:0000115 Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate NOT_TRANSLATED -en nl HP:0002418 rdfs:label Abnormal midbrain morphology Afwijking van de morfologie van het middenbrein CANDIDATE -en nl HP:0002418 IAO:0000115 An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct NOT_TRANSLATED -en nl HP:0100723 rdfs:label Gastrointestinal stroma tumor Gastro-intestinale stroma tumor CANDIDATE -en nl HP:4000079 rdfs:label Sensory seeking Sensory seeking NOT_TRANSLATED -en nl HP:4000079 IAO:0000115 Unusual interest in sensory aspects of the environment Unusual interest in sensory aspects of the environment NOT_TRANSLATED -en nl HP:0002419 rdfs:label Molar tooth sign on MRI Molar tooth sign op MRI CANDIDATE -en nl HP:0002419 IAO:0000115 An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth NOT_TRANSLATED -en nl HP:4000078 rdfs:label Fixated interest with abnormal intensity Fixated interest with abnormal intensity NOT_TRANSLATED -en nl HP:4000078 IAO:0000115 An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person NOT_TRANSLATED -en nl HP:0100725 rdfs:label Lichenification Lichenificatie CANDIDATE -en nl HP:0100725 IAO:0000115 Thickening and hardening of the epidermis seen with exaggeration of normal skin lines Thickening and hardening of the epidermis seen with exaggeration of normal skin lines NOT_TRANSLATED -en nl HP:4000073 rdfs:label Pronoun reversal Pronoun reversal NOT_TRANSLATED -en nl HP:4000073 IAO:0000115 A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused NOT_TRANSLATED -en nl HP:0002421 rdfs:label Poor head control Slechte controle van het hoofd CANDIDATE -en nl HP:0002421 IAO:0000115 Difficulty to maintain correct position of the head while standing or sitting Difficulty to maintain correct position of the head while standing or sitting NOT_TRANSLATED -en nl HP:0100724 rdfs:label Hypercoagulability Hypercoagulabiliteit CANDIDATE -en nl HP:0100724 IAO:0000115 An abnormality of coagulation associated with an increased risk of thrombosis An abnormality of coagulation associated with an increased risk of thrombosis NOT_TRANSLATED -en nl HP:4000072 rdfs:label Abnormal verbal communicative behavior Abnormal verbal communicative behavior NOT_TRANSLATED -en nl HP:4000072 IAO:0000115 Any abnormal behavior related to communication with language Any abnormal behavior related to communication with language NOT_TRANSLATED -en nl HP:0100727 rdfs:label Histiocytosis Histiocytose CANDIDATE -en nl HP:0100727 IAO:0000115 An excessive number of histiocytes (tissue macrophages) An excessive number of histiocytes (tissue macrophages) NOT_TRANSLATED -en nl HP:4000075 rdfs:label Reduced production of facial expressions Reduced production of facial expressions NOT_TRANSLATED -en nl HP:4000075 IAO:0000115 A behavioral abnormality marked by reduced use of communicative facial expressions. This may include individuals with a reduced range of facial expressions or those with a full range but who use them at a decreased rate A behavioral abnormality marked by reduced use of communicative facial expressions. This may include individuals with a reduced range of facial expressions or those with a full range but who use them at a decreased rate NOT_TRANSLATED -en nl HP:0002423 rdfs:label Long-tract signs Lange baan tekenen CANDIDATE -en nl HP:0002423 IAO:0000115 Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions NOT_TRANSLATED -en nl HP:0100726 rdfs:label Kaposi's sarcoma Kaposi's sarcoom CANDIDATE -en nl HP:0100726 IAO:0000115 A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV) A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV) NOT_TRANSLATED -en nl HP:4000074 rdfs:label Idiosyncratic language Idiosyncratic language NOT_TRANSLATED -en nl HP:4000074 IAO:0000115 Inappropriate use of words that have no phonological or semantic similarity to the intended word Inappropriate use of words that have no phonological or semantic similarity to the intended word NOT_TRANSLATED -en nl HP:0100729 rdfs:label Large face Groot gezicht CANDIDATE -en nl HP:4000069 rdfs:label Persistent preoccupation with parts of objects Persistent preoccupation with parts of objects NOT_TRANSLATED -en nl HP:4000069 IAO:0000115 A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car NOT_TRANSLATED -en nl HP:0002425 rdfs:label Anarthria Anarthrie CANDIDATE -en nl HP:0002425 IAO:0000115 A defect in the motor ability that enables speech A defect in the motor ability that enables speech NOT_TRANSLATED -en nl HP:0100728 rdfs:label Germ cell neoplasia Kiemcel neoplasie CANDIDATE -en nl HP:4000068 rdfs:label Abnormal interest Abnormal interest NOT_TRANSLATED -en nl HP:4000068 IAO:0000115 Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something NOT_TRANSLATED -en nl HP:0100731 rdfs:label Transverse facial cleft Transversale faciale cleft CANDIDATE -en nl HP:0100731 IAO:0000115 A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear NOT_TRANSLATED -en nl HP:0002427 rdfs:label Expressive aphasia Motorische afasie CANDIDATE -en nl HP:0002427 IAO:0000115 Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it NOT_TRANSLATED -en nl HP:0100730 rdfs:label Bronchogenic cyst Bronchogene cyste CANDIDATE -en nl HP:0100730 IAO:0000115 A rare congenital cystic lesion of the lungs in the mediastinum A rare congenital cystic lesion of the lungs in the mediastinum NOT_TRANSLATED -en nl HP:4000070 rdfs:label Circumscribed interests Circumscribed interests NOT_TRANSLATED -en nl HP:4000070 IAO:0000115 Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests) Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests) NOT_TRANSLATED -en nl HP:0100733 rdfs:label Neoplasm of the parathyroid gland Neoplasma van de bijschildklier CANDIDATE -en nl HP:0100733 IAO:0000115 A tumor (abnormal growth of tissue) of the parathyroid gland A tumor (abnormal growth of tissue) of the parathyroid gland NOT_TRANSLATED -en nl HP:0100732 rdfs:label Pancreatic fibrosis Pancreatische fibrose CANDIDATE -en nl HP:0100735 rdfs:label Hypertensive crisis Hypertensieve crisis CANDIDATE -en nl HP:4000067 rdfs:label Iliac artery aneurysm Iliac artery aneurysm NOT_TRANSLATED -en nl HP:4000067 IAO:0000115 Abnormal outpouching or sac-like dilatation in the iliac artery Abnormal outpouching or sac-like dilatation in the iliac artery NOT_TRANSLATED -en nl HP:0100734 rdfs:label Abnormality of vertebral epiphysis morphology Afwijking van de vertebrale epifyse morfologie CANDIDATE -en nl HP:0100734 IAO:0000115 An anomaly of one or more epiphyses of one or more vertebrae An anomaly of one or more epiphyses of one or more vertebrae NOT_TRANSLATED -en nl HP:4000066 rdfs:label Abnormal iliac artery morphology Abnormal iliac artery morphology NOT_TRANSLATED -en nl HP:4000066 IAO:0000115 Any structural anomaly of the iliac artery Any structural anomaly of the iliac artery NOT_TRANSLATED -en nl HP:0100737 rdfs:label Abnormal hard palate morphology Afwijking van het harde gehemelte CANDIDATE -en nl HP:0100736 rdfs:label Abnormal soft palate morphology Afwijking van het zachte gehemelte CANDIDATE -en nl HP:0100736 IAO:0000115 An abnormality of the soft palate An abnormality of the soft palate NOT_TRANSLATED -en nl HP:0100739 rdfs:label Bulimia Boulimia CANDIDATE -en nl HP:0100739 IAO:0000115 A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these) A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these) NOT_TRANSLATED -en nl HP:0002435 rdfs:label Meningocele Meningocele CANDIDATE -en nl HP:0002435 IAO:0000115 Protrusion of the meninges through a defect of the skull or vertebral column Protrusion of the meninges through a defect of the skull or vertebral column NOT_TRANSLATED -en nl HP:0100738 rdfs:label Abnormal eating behavior Abnormaal eet gedrag CANDIDATE -en nl HP:0100738 IAO:0000115 Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption NOT_TRANSLATED -en nl HP:0002436 rdfs:label Occipital meningocele Occipitale meningocele CANDIDATE -en nl HP:0002436 IAO:0000115 A herniation of meninges through a congenital bone defect in the skull in the occipital region A herniation of meninges through a congenital bone defect in the skull in the occipital region NOT_TRANSLATED -en nl HP:0002438 rdfs:label Cerebellar malformation Cerebellaire malformatie CANDIDATE -en nl HP:0100743 rdfs:label Neoplasm of the rectum Neoplasma van het rectum CANDIDATE -en nl HP:0002439 rdfs:label Frontolimbic dementia Frontolimbische dementie CANDIDATE -en nl HP:0100742 rdfs:label Vascular neoplasm Vasculair neoplasma CANDIDATE -en nl HP:0100742 IAO:0000115 A benign or malignant neoplasm (tumour) originating in the vascular system A benign or malignant neoplasm (tumour) originating in the vascular system NOT_TRANSLATED -en nl HP:0100745 rdfs:label Abnormality of the humeroulnar joint Afwijking van het humeroulnar gewricht CANDIDATE -en nl HP:0100745 IAO:0000115 An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint NOT_TRANSLATED -en nl HP:0100744 rdfs:label Abnormality of the humeroradial joint Afwijking van het humeroradial gewricht CANDIDATE -en nl HP:0002442 rdfs:label Dyscalculia Dyscalculie CANDIDATE -en nl HP:0002442 IAO:0000115 A specific learning disability involving mathematics and arithmetic A specific learning disability involving mathematics and arithmetic NOT_TRANSLATED -en nl HP:0100747 rdfs:label Macrodactyly of toe Macrodactylie van teen CANDIDATE -en nl HP:0100747 IAO:0000115 A type of Macrodactyly affecting one or several toes A type of Macrodactyly affecting one or several toes NOT_TRANSLATED -en nl HP:0100746 rdfs:label Macrodactyly of finger Macrodactylie van finger CANDIDATE -en nl HP:0100746 IAO:0000115 A type of Macrodactyly affecting one or several fingers A type of Macrodactyly affecting one or several fingers NOT_TRANSLATED -en nl HP:0002444 rdfs:label Hypothalamic hamartoma Hypothalamisch hamartoom CANDIDATE -en nl HP:0002444 IAO:0000115 The presence of a hamartoma of the hypothalamus The presence of a hamartoma of the hypothalamus NOT_TRANSLATED -en nl HP:0100749 rdfs:label Chest pain Pijn op de borst CANDIDATE -en nl HP:0100749 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest NOT_TRANSLATED -en nl HP:0002445 rdfs:label Tetraplegia Tetraplegie CANDIDATE -en nl HP:0002445 IAO:0000115 Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord NOT_TRANSLATED -en nl HP:0100748 rdfs:label Muscular edema Musculair oedeem CANDIDATE -en nl HP:0002446 rdfs:label Astrocytosis Astrocytose CANDIDATE -en nl HP:0002446 IAO:0000115 Proliferation of astrocytes in the area of a lesion of the central nervous system Proliferation of astrocytes in the area of a lesion of the central nervous system NOT_TRANSLATED -en nl HP:0100751 rdfs:label Esophageal neoplasm Oesofageaal neoplasma CANDIDATE -en nl HP:0100751 IAO:0000115 A tumor (abnormal growth of tissue) of the esophagus A tumor (abnormal growth of tissue) of the esophagus NOT_TRANSLATED -en nl HP:0100750 rdfs:label Atelectasis Atelectase CANDIDATE -en nl HP:0100750 IAO:0000115 Collapse of part of a lung associated with absence of inflation (air) of that part Collapse of part of a lung associated with absence of inflation (air) of that part NOT_TRANSLATED -en nl HP:0002448 rdfs:label Progressive encephalopathy Progressieve encefalopathie CANDIDATE -en nl HP:0100753 rdfs:label Schizophrenia Schizofrenie CANDIDATE -en nl HP:0100753 IAO:0000115 A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% NOT_TRANSLATED -en nl HP:0100752 rdfs:label Abnormal liver lobulation Abnormale lever lobulatie CANDIDATE -en nl HP:0100752 IAO:0000115 Formation of abnormal lobules (small masses of tissue) in the liver Formation of abnormal lobules (small masses of tissue) in the liver NOT_TRANSLATED -en nl HP:0002450 rdfs:label Abnormal motor neuron morphology Abnormale motor neuron morfologie CANDIDATE -en nl HP:0002450 IAO:0000115 Any structural anomaly that affects the motor neuron Any structural anomaly that affects the motor neuron NOT_TRANSLATED -en nl HP:0100755 rdfs:label Abnormality of salivation Afwijking van speekselafscheiding CANDIDATE -en nl HP:0002451 rdfs:label Limb dystonia Ledematen dystonie CANDIDATE -en nl HP:0002451 IAO:0000115 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs NOT_TRANSLATED -en nl HP:0100754 rdfs:label Mania Manie CANDIDATE -en nl HP:0100754 IAO:0000115 A state of abnormally elevated or irritable mood, arousal, and or energy levels A state of abnormally elevated or irritable mood, arousal, and or energy levels NOT_TRANSLATED -en nl HP:0100757 rdfs:label Pancreatoblastoma Pancreatoblastoom CANDIDATE -en nl HP:0100757 IAO:0000115 A rare pediatric carcinoma of the pancreas A rare pediatric carcinoma of the pancreas NOT_TRANSLATED -en nl HP:0002453 rdfs:label Abnormal globus pallidus morphology Abnormale globus pallidus morfologie CANDIDATE -en nl HP:0002453 IAO:0000115 An abnormality of the globus pallidus An abnormality of the globus pallidus NOT_TRANSLATED -en nl HP:0002454 rdfs:label Eye of the tiger anomaly of globus pallidus Eye of the tiger afwijking van de globus pallidus CANDIDATE -en nl HP:0002454 IAO:0000115 The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus NOT_TRANSLATED -en nl HP:0100759 rdfs:label Clubbing of fingers Trommelstokvorming van vingers CANDIDATE -en nl HP:0100759 IAO:0000115 Terminal broadening of the fingers (distal phalanges of the fingers) Terminal broadening of the fingers (distal phalanges of the fingers) NOT_TRANSLATED -en nl HP:0100758 rdfs:label Gangrene Gangreen CANDIDATE -en nl HP:0100758 IAO:0000115 A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis) A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis) NOT_TRANSLATED -en nl HP:0100761 rdfs:label Visceral angiomatosis Viscerale angiomatose CANDIDATE -en nl HP:0002457 rdfs:label Abnormal head movements Abnormale hoofdbewegingen CANDIDATE -en nl HP:0100760 rdfs:label Clubbing of toes Trommelstokvorming van tenen CANDIDATE -en nl HP:0100760 IAO:0000115 Terminal broadening of the toes (distal phalanges of the toes) Terminal broadening of the toes (distal phalanges of the toes) NOT_TRANSLATED -en nl HP:0100763 rdfs:label Abnormality of the lymphatic system Afwijking van het lymfestelsel CANDIDATE -en nl HP:0100763 IAO:0000115 An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively NOT_TRANSLATED -en nl HP:0100762 rdfs:label Hemobilia Hemobilie CANDIDATE -en nl HP:0100762 IAO:0000115 Bleeding into the biliary tree Bleeding into the biliary tree NOT_TRANSLATED -en nl HP:0002460 rdfs:label Distal muscle weakness Distale spierzwakte CANDIDATE -en nl HP:0002460 IAO:0000115 Reduced strength of the musculature of the distal extremities Reduced strength of the musculature of the distal extremities NOT_TRANSLATED -en nl HP:0100765 rdfs:label Abnormality of the tonsils Afwijking van de tonsillen CANDIDATE -en nl HP:0100765 IAO:0000115 An abnormality of the tonsils An abnormality of the tonsils NOT_TRANSLATED -en nl HP:0002461 rdfs:label Dense calcifications in the cerebellar dentate nucleus Dichte calcificaties in de cerebellaire nucleus dentatus CANDIDATE -en nl HP:0100764 rdfs:label Lymphangioma Lymphangioom CANDIDATE -en nl HP:0100764 IAO:0000115 Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor NOT_TRANSLATED -en nl HP:4000160 rdfs:label Typified by low penetrance Typified by low penetrance NOT_TRANSLATED -en nl HP:4000160 IAO:0000115 Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan NOT_TRANSLATED -en nl HP:0100767 rdfs:label Abnormal placenta morphology Afwijking van de placenta CANDIDATE -en nl HP:0100767 IAO:0000115 An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange NOT_TRANSLATED -en nl HP:0002463 rdfs:label Language impairment Taal verslechtering CANDIDATE -en nl HP:0002463 IAO:0000115 Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations NOT_TRANSLATED -en nl HP:0100766 rdfs:label Abnormal lymphatic vessel morphology Abnormale lymfevaten morfologie CANDIDATE -en nl HP:0100766 IAO:0000115 A structural anomaly of the vessel that contains or conveys lymph fluid A structural anomaly of the vessel that contains or conveys lymph fluid NOT_TRANSLATED -en nl HP:0002464 rdfs:label Spastic dysarthria Spastische dysartrie CANDIDATE -en nl HP:0002464 IAO:0000115 A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality NOT_TRANSLATED -en nl HP:0100769 rdfs:label Synovitis Synovitis CANDIDATE -en nl HP:0002465 rdfs:label Poor speech Slechte spraak CANDIDATE -en nl HP:0100768 rdfs:label Choriocarcinoma Choriocarcinoom CANDIDATE -en nl HP:0100768 IAO:0000115 A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors NOT_TRANSLATED -en nl HP:0100771 rdfs:label Hypoperistalsis Hypoperistalsis CANDIDATE -en nl HP:0100771 IAO:0000115 Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract NOT_TRANSLATED -en nl HP:4000159 rdfs:label Typified by moderate penetrance Typified by moderate penetrance NOT_TRANSLATED -en nl HP:4000159 IAO:0000115 Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan NOT_TRANSLATED -en nl HP:0100770 rdfs:label Hyperperistalsis Hyperperistalsis CANDIDATE -en nl HP:0100770 IAO:0000115 Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine NOT_TRANSLATED -en nl HP:4000158 rdfs:label Typified by high penetrance Typified by high penetrance NOT_TRANSLATED -en nl HP:4000158 IAO:0000115 Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan NOT_TRANSLATED -en nl HP:0100773 rdfs:label Cartilage destruction Kraakbeen vernietiging CANDIDATE -en nl HP:4000153 rdfs:label Cervical squamous cell papilloma Cervical squamous cell papilloma NOT_TRANSLATED -en nl HP:4000153 IAO:0000115 A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection NOT_TRANSLATED -en nl HP:4000152 rdfs:label Alternating laterality Alternating laterality NOT_TRANSLATED -en nl HP:4000152 IAO:0000115 Occuring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras) Occuring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras) NOT_TRANSLATED -en nl HP:0002470 rdfs:label Nonprogressive cerebellar ataxia Niet-progressieve cerebellaire ataxie CANDIDATE -en nl HP:0100775 rdfs:label Dural ectasia Durale ectasie CANDIDATE -en nl HP:0100775 IAO:0000115 A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level NOT_TRANSLATED -en nl HP:0100774 rdfs:label Hyperostosis Hyperostose CANDIDATE -en nl HP:0100774 IAO:0000115 Excessive growth or abnormal thickening of bone tissue Excessive growth or abnormal thickening of bone tissue NOT_TRANSLATED -en nl HP:4000154 rdfs:label Liver leiomyoma Liver leiomyoma NOT_TRANSLATED -en nl HP:4000154 IAO:0000115 A benign smooth muscle neoplasm that arises in the liver A benign smooth muscle neoplasm that arises in the liver NOT_TRANSLATED -en nl HP:0002472 rdfs:label Small cerebral cortex Kleine cerebrale cortex CANDIDATE -en nl HP:0002472 IAO:0000115 Reduced size of the cerebral cortex Reduced size of the cerebral cortex NOT_TRANSLATED -en nl HP:0100777 rdfs:label Exostoses Exostosen CANDIDATE -en nl HP:0100777 IAO:0000115 An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage NOT_TRANSLATED -en nl HP:4000149 rdfs:label Lymph node necrosis Lymph node necrosis NOT_TRANSLATED -en nl HP:4000149 IAO:0000115 Areas of necrotic tissue within a lymph node Areas of necrotic tissue within a lymph node NOT_TRANSLATED -en nl HP:0100776 rdfs:label Recurrent pharyngitis Terugkerende faryngitis CANDIDATE -en nl HP:0100776 IAO:0000115 An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis NOT_TRANSLATED -en nl HP:4000148 rdfs:label Portal artery hyperplasia Portal artery hyperplasia NOT_TRANSLATED -en nl HP:4000148 IAO:0000115 Abnormal increase in size of the portal arteries of the liver Abnormal increase in size of the portal arteries of the liver NOT_TRANSLATED -en nl HP:0002474 rdfs:label Expressive language delay Expressieve taalachterstand CANDIDATE -en nl HP:0002474 IAO:0000115 A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED -en nl HP:0100779 rdfs:label Urogenital sinus anomaly Urogenitale sinus afwijking CANDIDATE -en nl HP:0100779 IAO:0000115 A rare birth defect in women where the urethra and vagina both open into a common channel A rare birth defect in women where the urethra and vagina both open into a common channel NOT_TRANSLATED -en nl HP:4000151 rdfs:label History of recent cotralateral injury History of recent cotralateral injury NOT_TRANSLATED -en nl HP:4000151 IAO:0000115 A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint NOT_TRANSLATED -en nl HP:0002475 rdfs:label Myelomeningocele Myelomeningocele CANDIDATE -en nl HP:0002475 IAO:0000115 Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column NOT_TRANSLATED -en nl HP:0100778 rdfs:label Cryoglobulinemia Cryoglobulinemie CANDIDATE -en nl HP:0100778 IAO:0000115 Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius NOT_TRANSLATED -en nl HP:4000150 rdfs:label Multinucleated neuron Multinucleated neuron NOT_TRANSLATED -en nl HP:4000150 IAO:0000115 Neurons that contain more than one nucleus Neurons that contain more than one nucleus NOT_TRANSLATED -en nl HP:0002476 rdfs:label Primitive reflex Primitieve reflex CANDIDATE -en nl HP:0002476 IAO:0000115 The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant NOT_TRANSLATED -en nl HP:0100781 rdfs:label Abnormal sacroiliac joint morphology Afwijking van het sacro-iliacale gewricht CANDIDATE -en nl HP:0100781 IAO:0000115 An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone) An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone) NOT_TRANSLATED -en nl HP:4000145 rdfs:label History of recent viral illness History of recent viral illness NOT_TRANSLATED -en nl HP:4000145 IAO:0000115 Medical history of a viral illness in recent weeks Medical history of a viral illness in recent weeks NOT_TRANSLATED -en nl HP:0100780 rdfs:label Conjunctival hamartoma Conjunctivaal hamartoom CANDIDATE -en nl HP:0100780 IAO:0000115 A hamartoma (disordered proliferation of mature tissues) of the conjunctiva A hamartoma (disordered proliferation of mature tissues) of the conjunctiva NOT_TRANSLATED -en nl HP:4000144 rdfs:label Recent past medical history Recent past medical history NOT_TRANSLATED -en nl HP:4000144 IAO:0000115 History of events that precede the current presenting condition and are thought to be of potential relevance, having occured in the hours, days, or weeks before the current condition History of events that precede the current presenting condition and are thought to be of potential relevance, having occured in the hours, days, or weeks before the current condition NOT_TRANSLATED -en nl HP:0002478 rdfs:label Progressive spastic quadriplegia Progressieve spastische quadriplegie CANDIDATE -en nl HP:0100783 rdfs:label Breast aplasia Borst aplasie CANDIDATE -en nl HP:0100783 IAO:0000115 Failure to develop and congenital absence of the breast Failure to develop and congenital absence of the breast NOT_TRANSLATED -en nl HP:4000147 rdfs:label Abnormal portal artery morphology Abnormal portal artery morphology NOT_TRANSLATED -en nl HP:4000147 IAO:0000115 Any structural anomaly of the portal artery Any structural anomaly of the portal artery NOT_TRANSLATED -en nl HP:4000146 rdfs:label History of recent dental procedure History of recent dental procedure NOT_TRANSLATED -en nl HP:4000146 IAO:0000115 Medical history of a dental procedure in recent weeks Medical history of a dental procedure in recent weeks NOT_TRANSLATED -en nl HP:0002480 rdfs:label Hepatic encephalopathy Hepatische encefalopathie CANDIDATE -en nl HP:0002480 IAO:0000115 Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes NOT_TRANSLATED -en nl HP:0100785 rdfs:label Insomnia Slapeloosheid CANDIDATE -en nl HP:0100785 IAO:0000115 Persistent difficulty initiating or maintaining sleep Persistent difficulty initiating or maintaining sleep NOT_TRANSLATED -en nl HP:4000141 rdfs:label Left ventricular dilatation Left ventricular dilatation NOT_TRANSLATED -en nl HP:4000141 IAO:0000115 Enlargement of the chamber of the left heart ventricle Enlargement of the chamber of the left heart ventricle NOT_TRANSLATED -en nl HP:0100784 rdfs:label Peripheral arteriovenous fistula Perifere arterioveneuze fistel CANDIDATE -en nl HP:4000140 rdfs:label Fetal bowel dilatation Fetal bowel dilatation NOT_TRANSLATED -en nl HP:4000140 IAO:0000115 Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation NOT_TRANSLATED -en nl HP:0100787 rdfs:label Prostate neoplasm Prostaat neoplasma CANDIDATE -en nl HP:4000143 rdfs:label Abnormal fetal heart outflow tract Abnormal fetal heart outflow tract NOT_TRANSLATED -en nl HP:4000143 IAO:0000115 A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited NOT_TRANSLATED -en nl HP:0002483 rdfs:label Bulbar signs Bulbaire tekenen CANDIDATE -en nl HP:0100786 rdfs:label Hypersomnia Hypersomnie CANDIDATE -en nl HP:4000142 rdfs:label Fetal trigonocephaly Fetal trigonocephaly NOT_TRANSLATED -en nl HP:4000142 IAO:0000115 A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry NOT_TRANSLATED -en nl HP:0100789 rdfs:label Torus palatinus Torus palatinus CANDIDATE -en nl HP:0100789 IAO:0000115 A bony protrusion present on the midline of the hard palate A bony protrusion present on the midline of the hard palate NOT_TRANSLATED -en nl HP:4000137 rdfs:label Isoniazid exposure Isoniazid exposure NOT_TRANSLATED -en nl HP:4000137 IAO:0000115 History of having been treateed with isoniazid History of having been treateed with isoniazid NOT_TRANSLATED -en nl HP:0100788 rdfs:label Fused lips Gefuseerde lippen CANDIDATE -en nl HP:0100788 IAO:0000115 Lack of separation of the upper and lower lips Lack of separation of the upper and lower lips NOT_TRANSLATED -en nl HP:4000136 rdfs:label 6-mercaptopurine exposure 6-mercaptopurine exposure NOT_TRANSLATED -en nl HP:4000136 IAO:0000115 History of having been treateed with 6-mercaptopurine History of having been treateed with 6-mercaptopurine NOT_TRANSLATED -en nl HP:0002486 rdfs:label Myotonia Myotonie CANDIDATE -en nl HP:0002486 IAO:0000115 An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation NOT_TRANSLATED -en nl HP:4000139 rdfs:label Fetal abdominal cyst Fetal abdominal cyst NOT_TRANSLATED -en nl HP:4000139 IAO:0000115 Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally NOT_TRANSLATED -en nl HP:0002487 rdfs:label Hyperkinetic movements Hyperkinese CANDIDATE -en nl HP:0002487 IAO:0000115 Motor hyperactivity with excessive movement of muscles of the body as a whole Motor hyperactivity with excessive movement of muscles of the body as a whole NOT_TRANSLATED -en nl HP:0100790 rdfs:label Hernia Hernia CANDIDATE -en nl HP:4000138 rdfs:label Absent cavum septum pellucidum Absent cavum septum pellucidum NOT_TRANSLATED -en nl HP:4000138 IAO:0000115 The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding NOT_TRANSLATED -en nl HP:0002488 rdfs:label Acute leukemia Acute leukemie CANDIDATE -en nl HP:0002488 IAO:0000115 A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts) A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts) NOT_TRANSLATED -en nl HP:4000133 rdfs:label Triggered by angiotensin-converting enzyme inhibitor Triggered by angiotensin-converting enzyme inhibitor NOT_TRANSLATED -en nl HP:4000133 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril NOT_TRANSLATED -en nl HP:0100792 rdfs:label Acantholysis Acantholyse CANDIDATE -en nl HP:0100792 IAO:0000115 The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes NOT_TRANSLATED -en nl HP:4000132 rdfs:label Aggravated by phenytoin Aggravated by phenytoin NOT_TRANSLATED -en nl HP:4000132 IAO:0000115 Applied to a sign or symptom that is worsened by administration of phenytoin Applied to a sign or symptom that is worsened by administration of phenytoin NOT_TRANSLATED -en nl HP:0002490 rdfs:label Increased CSF lactate Verhoogd liquor actaat CANDIDATE -en nl HP:0002490 IAO:0000115 Increased concentration of lactate in the cerebrospinal fluid Increased concentration of lactate in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0100795 rdfs:label Abnormally straight spine Abnormaal rechte wervelkolom CANDIDATE -en nl HP:0100795 IAO:0000115 The absence of the normal curvature of the vertebral column The absence of the normal curvature of the vertebral column NOT_TRANSLATED -en nl HP:4000135 rdfs:label 5-fluorouracil exposure 5-fluorouracil exposure NOT_TRANSLATED -en nl HP:4000135 IAO:0000115 History of having been treateed with 5-fluorouracil History of having been treateed with 5-fluorouracil NOT_TRANSLATED -en nl HP:0002491 rdfs:label Spasticity of facial muscles Spasticiteit aangezichtsmusculatuur CANDIDATE -en nl HP:0002491 IAO:0000115 Spasticity of one or more muscles innervated by the facial nerve Spasticity of one or more muscles innervated by the facial nerve NOT_TRANSLATED -en nl HP:4000134 rdfs:label Prostaglandin E1 exposure Prostaglandin E1 exposure NOT_TRANSLATED -en nl HP:4000134 IAO:0000115 History of having been treateed with prostaglandin E1 History of having been treateed with prostaglandin E1 NOT_TRANSLATED -en nl HP:0002492 rdfs:label Morphological abnormality of the corticospinal tract Afwijking van de corticospinale banen CANDIDATE -en nl HP:0002492 IAO:0000115 Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord NOT_TRANSLATED -en nl HP:0100797 rdfs:label Toenail dysplasia Teennagel dysplasie CANDIDATE -en nl HP:0100797 IAO:0000115 An abnormality of the development of the toenails An abnormality of the development of the toenails NOT_TRANSLATED -en nl HP:4000129 rdfs:label Recent blood transfusion Recent blood transfusion NOT_TRANSLATED -en nl HP:4000129 IAO:0000115 A past medical history of a recent blood transfusion A past medical history of a recent blood transfusion NOT_TRANSLATED -en nl HP:0002493 rdfs:label Upper motor neuron dysfunction Bovenste motor neuron dysfunctie CANDIDATE -en nl HP:0002493 IAO:0000115 A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs NOT_TRANSLATED -en nl HP:0100796 rdfs:label Orchitis Orchitis CANDIDATE -en nl HP:0100796 IAO:0000115 Testicular inflammation Testicular inflammation NOT_TRANSLATED -en nl HP:4000128 rdfs:label Nitric oxide addiction Nitric oxide addiction NOT_TRANSLATED -en nl HP:4000128 IAO:0000115 Addiction to inhaled nitrous oxide gas (N2O) Addiction to inhaled nitrous oxide gas (N2O) NOT_TRANSLATED -en nl HP:0002494 rdfs:label Abnormal rapid eye movement sleep Abnormale REM slaap CANDIDATE -en nl HP:0002494 IAO:0000115 Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements NOT_TRANSLATED -en nl HP:0100799 rdfs:label Neoplasm of the middle ear Neoplasma van het middenoor CANDIDATE -en nl HP:0100799 IAO:0000115 A tumor (abnormal growth of tissue) of the middle ear A tumor (abnormal growth of tissue) of the middle ear NOT_TRANSLATED -en nl HP:4000131 rdfs:label Ameliorated by vitamin D Ameliorated by vitamin D NOT_TRANSLATED -en nl HP:4000131 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D NOT_TRANSLATED -en nl HP:0002495 rdfs:label Impaired vibratory sensation Verminderde vibratiezin CANDIDATE -en nl HP:0002495 IAO:0000115 A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient NOT_TRANSLATED -en nl HP:0100798 rdfs:label Fingernail dysplasia Vingernagel dysplasie CANDIDATE -en nl HP:0100798 IAO:0000115 An abnormality of the development of the fingernails An abnormality of the development of the fingernails NOT_TRANSLATED -en nl HP:4000130 rdfs:label Ameliorated by colchicine Ameliorated by colchicine NOT_TRANSLATED -en nl HP:4000130 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by administration of colchizine Applies to a sign or symptom that is improved or made more bearable by administration of colchizine NOT_TRANSLATED -en nl HP:0100801 rdfs:label Pancreatic aplasia Pancreatische aplasie CANDIDATE -en nl HP:0100801 IAO:0000115 Aplasia of the pancreas Aplasia of the pancreas NOT_TRANSLATED -en nl HP:0002497 rdfs:label Spastic ataxia Spastische ataxie CANDIDATE -en nl HP:0100800 rdfs:label Aplasia/Hypoplasia of the pancreas Aplasia/hypoplasie van de pancreas CANDIDATE -en nl HP:0100800 IAO:0000115 A congenital underdevelopment (aplasia or hypoplasia) of the pancreas A congenital underdevelopment (aplasia or hypoplasia) of the pancreas NOT_TRANSLATED -en nl HP:0100803 rdfs:label Abnormality of the periungual region Afwijking van de periunguale regio CANDIDATE -en nl HP:0100803 IAO:0000115 An abnormality of the region around the nails of the fingers or toes An abnormality of the region around the nails of the fingers or toes NOT_TRANSLATED -en nl HP:0100802 rdfs:label Malposition of the stomach Malpositie van de maag CANDIDATE -en nl HP:0100802 IAO:0000115 Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation NOT_TRANSLATED -en nl HP:0002500 rdfs:label Abnormal cerebral white matter morphology Afwijking van de cerebrale witte stof CANDIDATE -en nl HP:0002500 IAO:0000115 An abnormality of the cerebral white matter An abnormality of the cerebral white matter NOT_TRANSLATED -en nl HP:0002501 rdfs:label Spasticity of pharyngeal muscles Spasticiteit van de faryngeale spieren CANDIDATE -en nl HP:0100804 rdfs:label Ungual fibroma Unguaal fibroom CANDIDATE -en nl HP:0100804 IAO:0000115 Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate) Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate) NOT_TRANSLATED -en nl HP:0100807 rdfs:label Long fingers Lange vingers CANDIDATE -en nl HP:0100807 IAO:0000115 The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand NOT_TRANSLATED -en nl HP:0002503 rdfs:label Spinocerebellar tract degeneration Spinocerebellaire baan degeneratie CANDIDATE -en nl HP:0100806 rdfs:label Sepsis Sepsis CANDIDATE -en nl HP:0100806 IAO:0000115 Systemic inflammatory response to infection Systemic inflammatory response to infection NOT_TRANSLATED -en nl HP:0002504 rdfs:label Calcification of the small brain vessels Calcificatie van de vaten van het cerebellum CANDIDATE -en nl HP:0002504 IAO:0000115 Deposition of calcium salts within small blood vessels of the brain Deposition of calcium salts within small blood vessels of the brain NOT_TRANSLATED -en nl HP:0100809 rdfs:label Scalp tenderness Hoofdhuid gevoeligheid CANDIDATE -en nl HP:0100809 IAO:0000115 Pain or discomfort of the scalp elicited by palpation Pain or discomfort of the scalp elicited by palpation NOT_TRANSLATED -en nl HP:0002505 rdfs:label Loss of ambulation Progressieef onvermogen om te lopen CANDIDATE -en nl HP:0002505 IAO:0000115 Inability to walk in a person who previous had the ability to walk Inability to walk in a person who previous had the ability to walk NOT_TRANSLATED -en nl HP:0100808 rdfs:label Gastric diverticulum Gastrisch divertikel CANDIDATE -en nl HP:0100808 IAO:0000115 An outpouching of the gastric wall An outpouching of the gastric wall NOT_TRANSLATED -en nl HP:0002506 rdfs:label Diffuse cerebral atrophy Diffuse cerebrale atrofie CANDIDATE -en nl HP:0002506 IAO:0000115 Diffuse unlocalised atrophy affecting the cerebrum Diffuse unlocalised atrophy affecting the cerebrum NOT_TRANSLATED -en nl HP:0100811 rdfs:label Aplasia/Hypoplasia of the colon Aplasia/hypoplasie van de dikke darm CANDIDATE -en nl HP:0100811 IAO:0000115 Congenital absence or underdevelopment of the colon Congenital absence or underdevelopment of the colon NOT_TRANSLATED -en nl HP:0002507 rdfs:label Semilobar holoprosencephaly Semilobulaire holoprosencefalie CANDIDATE -en nl HP:0002507 IAO:0000115 A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly NOT_TRANSLATED -en nl HP:0100810 rdfs:label Pointed helix Puntige helix CANDIDATE -en nl HP:0002508 rdfs:label Brainstem dysplasia Hersenstam dysplasie CANDIDATE -en nl HP:0002508 IAO:0000115 A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord NOT_TRANSLATED -en nl HP:0100813 rdfs:label Testicular torsion Testiculaire torsie CANDIDATE -en nl HP:0100813 IAO:0000115 Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain NOT_TRANSLATED -en nl HP:0002509 rdfs:label Limb hypertonia Hypertonie van de ledematen CANDIDATE -en nl HP:0100812 rdfs:label Halitosis Halitose CANDIDATE -en nl HP:0100812 IAO:0000115 Noticeably unpleasant odors exhaled in breathing Noticeably unpleasant odors exhaled in breathing NOT_TRANSLATED -en nl HP:0002510 rdfs:label Spastic tetraplegia Spastische tetraplegie CANDIDATE -en nl HP:0002510 IAO:0000115 Spastic paralysis affecting all four limbs Spastic paralysis affecting all four limbs NOT_TRANSLATED -en nl HP:0002511 rdfs:label Alzheimer disease De ziekte van Alzheimer CANDIDATE -en nl HP:0002511 IAO:0000115 A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads NOT_TRANSLATED -en nl HP:0100814 rdfs:label Blue nevus Blauwe naevus CANDIDATE -en nl HP:0002512 rdfs:label Brain stem compression Hersenstam compressie CANDIDATE -en nl HP:0100817 rdfs:label Renovascular hypertension Renovasculaire hypertensie CANDIDATE -en nl HP:0100817 IAO:0000115 The presence of hypertension related to stenosis of the renal artery The presence of hypertension related to stenosis of the renal artery NOT_TRANSLATED -en nl HP:0100816 rdfs:label Lip hyperpigmentation Lip hyperpigmentatie CANDIDATE -en nl HP:0002514 rdfs:label Cerebral calcification Cerebrale calcificatie CANDIDATE -en nl HP:0002514 IAO:0000115 The presence of calcium deposition within brain structures The presence of calcium deposition within brain structures NOT_TRANSLATED -en nl HP:0100819 rdfs:label Intestinal fistula Intestinale fistel CANDIDATE -en nl HP:0100819 IAO:0000115 An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0002515 rdfs:label Waddling gait Wachellende gang CANDIDATE -en nl HP:0002515 IAO:0000115 Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck NOT_TRANSLATED -en nl HP:0100818 rdfs:label Long thorax Lange thorax CANDIDATE -en nl HP:0100818 IAO:0000115 Increased inferior to superior extent of the thorax Increased inferior to superior extent of the thorax NOT_TRANSLATED -en nl HP:0002516 rdfs:label Increased intracranial pressure Verhoogde intracraniële druk CANDIDATE -en nl HP:0002516 IAO:0000115 An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid NOT_TRANSLATED -en nl HP:0100821 rdfs:label Urethrocele Urethrocele CANDIDATE -en nl HP:0100821 IAO:0000115 The prolapse of the female urethra into the vagina The prolapse of the female urethra into the vagina NOT_TRANSLATED -en nl HP:0100820 rdfs:label Glomerulopathy Glomerulopathie CANDIDATE -en nl HP:0100820 IAO:0000115 Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron NOT_TRANSLATED -en nl HP:0002518 rdfs:label Abnormal periventricular white matter morphology Afwijking van de periventriculaire witte stof CANDIDATE -en nl HP:0002518 IAO:0000115 A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles NOT_TRANSLATED -en nl HP:0100823 rdfs:label Genital hernia Genitale hernia CANDIDATE -en nl HP:0002519 rdfs:label Hypnagogic hallucinations Hypnagogicsche hallucinaties CANDIDATE -en nl HP:0002519 IAO:0000115 Fleeting perceptual experiences that occur during the transition from wakefulness to sleep Fleeting perceptual experiences that occur during the transition from wakefulness to sleep NOT_TRANSLATED -en nl HP:0100822 rdfs:label Rectocele Rectocele CANDIDATE -en nl HP:0100822 IAO:0000115 A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy NOT_TRANSLATED -en nl HP:0100825 rdfs:label Cheilitis Cheilitis CANDIDATE -en nl HP:0100825 IAO:0000115 Inflammation of the lip Inflammation of the lip NOT_TRANSLATED -en nl HP:0002521 rdfs:label Hypsarrhythmia Hypsarrhythmie CANDIDATE -en nl HP:0002521 IAO:0000115 Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG) Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0002522 rdfs:label Areflexia of lower limbs Areflexie van onderste ledematen CANDIDATE -en nl HP:0002522 IAO:0000115 Inability to elicit tendon reflexes in the lower limbs Inability to elicit tendon reflexes in the lower limbs NOT_TRANSLATED -en nl HP:0100827 rdfs:label Lymphocytosis Lymfocytose CANDIDATE -en nl HP:0100827 IAO:0000115 Increase in the number or proportion of lymphocytes in the blood Increase in the number or proportion of lymphocytes in the blood NOT_TRANSLATED -en nl HP:0100826 rdfs:label Neoplasm of the nail Neoplasma van de nagel CANDIDATE -en nl HP:0100826 IAO:0000115 A tumor (abnormal growth of tissue) of the nail A tumor (abnormal growth of tissue) of the nail NOT_TRANSLATED -en nl HP:0002524 rdfs:label Cataplexy Kataplexie CANDIDATE -en nl HP:0002524 IAO:0000115 A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions NOT_TRANSLATED -en nl HP:0100829 rdfs:label Galactorrhea Galactorrhea CANDIDATE -en nl HP:0100829 IAO:0000115 Spontaneous flow of milk from the breast, unassociated with childbirth or nursing Spontaneous flow of milk from the breast, unassociated with childbirth or nursing NOT_TRANSLATED -en nl HP:0100828 rdfs:label Increased T cell count Toename van T cellen CANDIDATE -en nl HP:0100828 IAO:0000115 An abnormal increase in the total number of T cells detected in the blood An abnormal increase in the total number of T cells detected in the blood NOT_TRANSLATED -en nl HP:0002526 rdfs:label Deficit in nonword repetition Tekort in niet-woordelijke herhaling CANDIDATE -en nl HP:0002526 IAO:0000115 Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory NOT_TRANSLATED -en nl HP:0100831 rdfs:label Abnormality of vitamin K metabolism Afwijking van vitamine K metabolisme CANDIDATE -en nl HP:0100831 IAO:0000115 Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade NOT_TRANSLATED -en nl HP:0002527 rdfs:label Falls Vallen CANDIDATE -en nl HP:0100830 rdfs:label Round ear Rond oor CANDIDATE -en nl HP:0002528 rdfs:label Granulovacuolar degeneration Granulovacuolaire degeneratie CANDIDATE -en nl HP:0002528 IAO:0000115 Electron-dense granules within double membrane-bound cytoplasmic vacuoles Electron-dense granules within double membrane-bound cytoplasmic vacuoles NOT_TRANSLATED -en nl HP:0100833 rdfs:label Neoplasm of the small intestine Neoplasma van dunne darm CANDIDATE -en nl HP:0100833 IAO:0000115 The presence of a neoplasm of the small intestine The presence of a neoplasm of the small intestine NOT_TRANSLATED -en nl HP:0002529 rdfs:label Neuronal loss in central nervous system Neuraal verlies in het centrale zenuwstelsel CANDIDATE -en nl HP:0100832 rdfs:label Vitreous floaters Glasvocht floaters CANDIDATE -en nl HP:0100832 IAO:0000115 Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent NOT_TRANSLATED -en nl HP:0002530 rdfs:label Axial dystonia Axiale dystonie CANDIDATE -en nl HP:0002530 IAO:0000115 A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles NOT_TRANSLATED -en nl HP:0100835 rdfs:label Benign neoplasm of the central nervous system Benigne neoplasma van het centrale zenuwstelsel CANDIDATE -en nl HP:0100834 rdfs:label Neoplasm of the large intestine Neoplasma van de dikke darm CANDIDATE -en nl HP:0100834 IAO:0000115 The presence of a neoplasm of the large intestine The presence of a neoplasm of the large intestine NOT_TRANSLATED -en nl HP:0100837 rdfs:label Atrophodermia vermiculata Atrophoderma vermiculata CANDIDATE -en nl HP:0100837 IAO:0000115 Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions NOT_TRANSLATED -en nl HP:0002533 rdfs:label Abnormal posturing Abnormale houding CANDIDATE -en nl HP:0002533 IAO:0000115 Involuntary flexion or extension of the arms and legs Involuntary flexion or extension of the arms and legs NOT_TRANSLATED -en nl HP:0100836 rdfs:label Malignant neoplasm of the central nervous system Maligne neoplasma van het centrale zenuwstelsel CANDIDATE -en nl HP:0100836 IAO:0000115 A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns NOT_TRANSLATED -en nl HP:0100839 rdfs:label Hepatic agenesis Hepatische agenesie CANDIDATE -en nl HP:0100839 IAO:0000115 Absence of the liver owing to a failure of the liver to develop Absence of the liver owing to a failure of the liver to develop NOT_TRANSLATED -en nl HP:0100838 rdfs:label Recurrent cutaneous abscess formation Recidiverende cutane abces vorming CANDIDATE -en nl HP:0100838 IAO:0000115 An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses NOT_TRANSLATED -en nl HP:0002536 rdfs:label Abnormal cortical gyration Abnormale corticale gyratie CANDIDATE -en nl HP:0002536 IAO:0000115 An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain NOT_TRANSLATED -en nl HP:0100841 rdfs:label Microgastria Microgastrie CANDIDATE -en nl HP:0100841 IAO:0000115 A developmental anomaly wtih a small tubular or saccular midline stomach A developmental anomaly wtih a small tubular or saccular midline stomach NOT_TRANSLATED -en nl HP:0100840 rdfs:label Aplasia/Hypoplasia of the eyebrow Aplasia/hypoplasie van de wenkbrauw CANDIDATE -en nl HP:0100840 IAO:0000115 Absence or underdevelopment of the eyebrow Absence or underdevelopment of the eyebrow NOT_TRANSLATED -en nl HP:0002538 rdfs:label Abnormal cerebral cortex morphology Afwijking van de cerebrale cortex CANDIDATE -en nl HP:0002538 IAO:0000115 Any structural abnormality of the cerebral cortex Any structural abnormality of the cerebral cortex NOT_TRANSLATED -en nl HP:0002539 rdfs:label Cortical dysplasia Corticale dysplasie CANDIDATE -en nl HP:0002539 IAO:0000115 The presence of developmental dysplasia of the cerebral cortex The presence of developmental dysplasia of the cerebral cortex NOT_TRANSLATED -en nl HP:0100842 rdfs:label Septo-optic dysplasia Septo-optische dysplasie CANDIDATE -en nl HP:0100842 IAO:0000115 Underdevelopment of the optic nerve and absence of the septum pellucidum Underdevelopment of the optic nerve and absence of the septum pellucidum NOT_TRANSLATED -en nl HP:0002540 rdfs:label Inability to walk Onvermogen om te lopen CANDIDATE -en nl HP:0002540 IAO:0000115 Incapability to ambulate Incapability to ambulate NOT_TRANSLATED -en nl HP:0100845 rdfs:label Anaphylactic shock Anafylactische shock CANDIDATE -en nl HP:0100845 IAO:0000115 An acute hypersensitivity reaction due to exposure to a previously encountered antigen An acute hypersensitivity reaction due to exposure to a previously encountered antigen NOT_TRANSLATED -en nl HP:0100844 rdfs:label Pancreatic fistula Pancreatische fistel CANDIDATE -en nl HP:0002542 rdfs:label Olivopontocerebellar atrophy Olivopontocerebellaire atrofie CANDIDATE -en nl HP:0002542 IAO:0000115 Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus NOT_TRANSLATED -en nl HP:0100847 rdfs:label Palmoplantar pustulosis Palmoplantaire pustulose CANDIDATE -en nl HP:0100847 IAO:0000115 A chronic, relapsing, pustular eruption that is localized to the palms and soles A chronic, relapsing, pustular eruption that is localized to the palms and soles NOT_TRANSLATED -en nl HP:0002544 rdfs:label Retrocollis Retrocollis CANDIDATE -en nl HP:0002544 IAO:0000115 A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture NOT_TRANSLATED -en nl HP:0100849 rdfs:label Neoplasm of the scrotum Neoplasma van het scrotum CANDIDATE -en nl HP:0100849 IAO:0000115 A tumor (abnormal growth of tissue) of the scrotum A tumor (abnormal growth of tissue) of the scrotum NOT_TRANSLATED -en nl HP:0002545 rdfs:label Patchy demyelination of subcortical white matter Fragmentarische demyelinisatie van subcorticale witte stof CANDIDATE -en nl HP:0002545 IAO:0000115 Patchy loss of myelin from nerve fibers in the central nervous system Patchy loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED -en nl HP:0100848 rdfs:label Neoplasm of the male external genitalia Neoplasma van de mannelijke externe genitaliën CANDIDATE -en nl HP:0100848 IAO:0000115 A tumor (abnormal growth of tissue) of the male external genitalia A tumor (abnormal growth of tissue) of the male external genitalia NOT_TRANSLATED -en nl HP:0002546 rdfs:label Incomprehensible speech Onbegrijpelijk spraak CANDIDATE -en nl HP:0100851 rdfs:label Abnormal emotion/affect behavior Abnormaal emotioneel/affectief gedrag CANDIDATE -en nl HP:0100851 IAO:0000115 An abnormality of emotional behaviour An abnormality of emotional behaviour NOT_TRANSLATED -en nl HP:0100850 rdfs:label Neoplasm of the penis Neoplasma van de penis CANDIDATE -en nl HP:0100850 IAO:0000115 A tumor (abnormal growth of tissue) of the penis A tumor (abnormal growth of tissue) of the penis NOT_TRANSLATED -en nl HP:0002548 rdfs:label Parkinsonism with favorable response to dopaminergic medication Ziekte van Parkinson met gunstige reactie op de dopaminerge medicatie CANDIDATE -en nl HP:0002548 IAO:0000115 Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication NOT_TRANSLATED -en nl HP:0100853 rdfs:label Hypoplastic areola Hypoplastische areola CANDIDATE -en nl HP:0100853 IAO:0000115 Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple NOT_TRANSLATED -en nl HP:0002549 rdfs:label Deficit in phonologic short-term memory Tekort in fonetisch korte termijn geheugen CANDIDATE -en nl HP:0002549 IAO:0000115 Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory NOT_TRANSLATED -en nl HP:0100852 rdfs:label Abnormal fear/anxiety-related behavior Abnormaal angstig gedrag CANDIDATE -en nl HP:0100852 IAO:0000115 An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response NOT_TRANSLATED -en nl HP:0002550 rdfs:label Absent facial hair Afwezig gezichtshaar CANDIDATE -en nl HP:0002550 IAO:0000115 Absence of facial hair Absence of facial hair NOT_TRANSLATED -en nl HP:0100855 rdfs:label Triceps hypoplasia Triceps hypoplasie CANDIDATE -en nl HP:0100855 IAO:0000115 Hypoplasia of the triceps muscle Hypoplasia of the triceps muscle NOT_TRANSLATED -en nl HP:0100854 rdfs:label Aplasia of the musculature Aplasie van de musculatuur CANDIDATE -en nl HP:0100854 IAO:0000115 Absence of the musculature Absence of the musculature NOT_TRANSLATED -en nl HP:0002552 rdfs:label Trichodysplasia Trichodysplasie CANDIDATE -en nl HP:0002552 IAO:0000115 Developmental dysplasia of the hair Developmental dysplasia of the hair NOT_TRANSLATED -en nl HP:0100857 rdfs:label Flat sella turcica Vlakke sella turcica CANDIDATE -en nl HP:0100857 IAO:0000115 An abnormally flat sella turcica An abnormally flat sella turcica NOT_TRANSLATED -en nl HP:0002553 rdfs:label Highly arched eyebrow Sterk gebogen wenkbrauw CANDIDATE -en nl HP:0002553 IAO:0000115 Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape NOT_TRANSLATED -en nl HP:0100856 rdfs:label Poorly ossified vertebrae Slecht geossificeerde wervels CANDIDATE -en nl HP:0100856 IAO:0000115 Decreased ossification of the vertebral bodies Decreased ossification of the vertebral bodies NOT_TRANSLATED -en nl HP:0100859 rdfs:label Dilatation of superior mesenteric artery Dilatatie van arteria mesenterica superior CANDIDATE -en nl HP:0100859 IAO:0000115 Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery NOT_TRANSLATED -en nl HP:0002555 rdfs:label Absent pubic hair Afwezig schaamhaar CANDIDATE -en nl HP:0002555 IAO:0000115 Absence of pubic hair Absence of pubic hair NOT_TRANSLATED -en nl HP:0100858 rdfs:label Dilatation of celiac artery Dilatatie van truncus coeliacus CANDIDATE -en nl HP:0100858 IAO:0000115 Abnormal outpouching or sac-like dilatation in the wall of the celiac artery Abnormal outpouching or sac-like dilatation in the wall of the celiac artery NOT_TRANSLATED -en nl HP:0100861 rdfs:label Sclerotic vertebral body Wervellichaam sclerose CANDIDATE -en nl HP:0100861 IAO:0000115 Increase in bone density of the vertebral body Increase in bone density of the vertebral body NOT_TRANSLATED -en nl HP:0002557 rdfs:label Hypoplastic nipples Hypoplasticche tepels CANDIDATE -en nl HP:0002557 IAO:0000115 Underdevelopment of the nipple Underdevelopment of the nipple NOT_TRANSLATED -en nl HP:0100860 rdfs:label Dilatation of Inferior mesenteric artery Dilatatie van arteria mesenterica inferior CANDIDATE -en nl HP:0100860 IAO:0000115 Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery NOT_TRANSLATED -en nl HP:0002558 rdfs:label Supernumerary nipple Extra tepel CANDIDATE -en nl HP:0002558 IAO:0000115 Presence of more than two nipples Presence of more than two nipples NOT_TRANSLATED -en nl HP:0100863 rdfs:label Aplasia of the femoral neck Aplasie van het collum CANDIDATE -en nl HP:0100862 rdfs:label Aplasia of the femoral head Aplasie van de femurkop CANDIDATE -en nl HP:0100865 rdfs:label Broad ischia Brede ischia CANDIDATE -en nl HP:0100865 IAO:0000115 Increased width of the ischium, which forms the lower and back part of the hip bone Increased width of the ischium, which forms the lower and back part of the hip bone NOT_TRANSLATED -en nl HP:0002561 rdfs:label Absent nipple Afwezige tepel CANDIDATE -en nl HP:0002561 IAO:0000115 Congenital failure to develop, and absence of, the nipple Congenital failure to develop, and absence of, the nipple NOT_TRANSLATED -en nl HP:0100864 rdfs:label Short femoral neck Korte collum CANDIDATE -en nl HP:0100864 IAO:0000115 An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED -en nl HP:0002562 rdfs:label Low-set nipples Laag ingeplante tepels CANDIDATE -en nl HP:0002562 IAO:0000115 Placement of the nipples at a lower than normal location Placement of the nipples at a lower than normal location NOT_TRANSLATED -en nl HP:0100867 rdfs:label Duodenal stenosis Duodenum stenose CANDIDATE -en nl HP:0100867 IAO:0000115 The narrowing or partial blockage of a portion of the duodenum The narrowing or partial blockage of a portion of the duodenum NOT_TRANSLATED -en nl HP:0002563 rdfs:label Constrictive pericarditis Constrictieve pericarditis CANDIDATE -en nl HP:0002563 IAO:0000115 Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium NOT_TRANSLATED -en nl HP:0100866 rdfs:label Short iliac bones Kort os illium CANDIDATE -en nl HP:0100866 IAO:0000115 Underdevelopment of the iliac bones Underdevelopment of the iliac bones NOT_TRANSLATED -en nl HP:0100869 rdfs:label Palmar telangiectasia Palmaire teleangiëctasieën CANDIDATE -en nl HP:0100869 IAO:0000115 The presence of telangiectases on the skin of palm of hand The presence of telangiectases on the skin of palm of hand NOT_TRANSLATED -en nl HP:0002566 rdfs:label Intestinal malrotation Intestinale malrotatie CANDIDATE -en nl HP:0002566 IAO:0000115 An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis NOT_TRANSLATED -en nl HP:0100871 rdfs:label Abnormal palm morphology Afwijking van de palm CANDIDATE -en nl HP:0100871 IAO:0000115 An abnormality of the palm, that is, of the front of the hand An abnormality of the palm, that is, of the front of the hand NOT_TRANSLATED -en nl HP:0100870 rdfs:label Plantar telangiectasia Plantaire teleangiëctasieën CANDIDATE -en nl HP:0100870 IAO:0000115 Telangiectases (small dilated blood vessels) located on the skin of sole of foot Telangiectases (small dilated blood vessels) located on the skin of sole of foot NOT_TRANSLATED -en nl HP:0100872 rdfs:label Abnormality of the plantar skin of foot Afwijking van plantaire huid van de voet CANDIDATE -en nl HP:0100872 IAO:0000115 An abnormality of the plantar part of foot, that is of the soles of the feet An abnormality of the plantar part of foot, that is of the soles of the feet NOT_TRANSLATED -en nl HP:0002570 rdfs:label Steatorrhea Steatorroe CANDIDATE -en nl HP:0002570 IAO:0000115 Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats NOT_TRANSLATED -en nl HP:0100875 rdfs:label Hemimacroglossia Hemimacroglossie CANDIDATE -en nl HP:0100875 IAO:0000115 Increased length and width of one half of the tounge Increased length and width of one half of the tounge NOT_TRANSLATED -en nl HP:0002571 rdfs:label Achalasia Achalasie CANDIDATE -en nl HP:0002571 IAO:0000115 A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus NOT_TRANSLATED -en nl HP:0100874 rdfs:label Thick hair Dik haar CANDIDATE -en nl HP:0100874 IAO:0000115 Increased density of hairs, i.e., and elevated number of hairs per unit area Increased density of hairs, i.e., and elevated number of hairs per unit area NOT_TRANSLATED -en nl HP:0002572 rdfs:label Episodic vomiting Episodisch braken CANDIDATE -en nl HP:0002572 IAO:0000115 Paroxysmal, recurrent episodes of vomiting Paroxysmal, recurrent episodes of vomiting NOT_TRANSLATED -en nl HP:0100877 rdfs:label Renal diverticulum Renaal divertikel CANDIDATE -en nl HP:0100877 IAO:0000115 Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system NOT_TRANSLATED -en nl HP:0002573 rdfs:label Hematochezia Hematochezie CANDIDATE -en nl HP:0002573 IAO:0000115 The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus NOT_TRANSLATED -en nl HP:0100876 rdfs:label Infra-orbital crease Infra-orbitale plooi CANDIDATE -en nl HP:0100876 IAO:0000115 Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma NOT_TRANSLATED -en nl HP:0002574 rdfs:label Episodic abdominal pain Episodische abdominale pijn CANDIDATE -en nl HP:0002574 IAO:0000115 An intermittent form of abdominal pain An intermittent form of abdominal pain NOT_TRANSLATED -en nl HP:0100879 rdfs:label Enlarged ovaries Vergrote ovaria CANDIDATE -en nl HP:0002575 rdfs:label Tracheoesophageal fistula Tracheosofageale fistel CANDIDATE -en nl HP:0002575 IAO:0000115 An abnormal connection (fistula) between the esophagus and the trachea An abnormal connection (fistula) between the esophagus and the trachea NOT_TRANSLATED -en nl HP:0100878 rdfs:label Enlarged uterus Vergrote uterus CANDIDATE -en nl HP:0002576 rdfs:label Intussusception Intussusceptie CANDIDATE -en nl HP:0002576 IAO:0000115 An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine NOT_TRANSLATED -en nl HP:0100881 rdfs:label Congenital mesoblastic nephroma Aangeboren mesoblastisch nefroom CANDIDATE -en nl HP:0100881 IAO:0000115 Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue NOT_TRANSLATED -en nl HP:0002577 rdfs:label Abnormal stomach morphology Afwijking van de maag CANDIDATE -en nl HP:0002577 IAO:0000115 An abnormality of the stomach An abnormality of the stomach NOT_TRANSLATED -en nl HP:0100880 rdfs:label Nephrogenic rest Nefrogene rest CANDIDATE -en nl HP:0100880 IAO:0000115 Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney NOT_TRANSLATED -en nl HP:0002578 rdfs:label Gastroparesis Gastroparese CANDIDATE -en nl HP:0002578 IAO:0000115 Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction NOT_TRANSLATED -en nl HP:0100883 rdfs:label Chorangioma Chorangioom CANDIDATE -en nl HP:0100883 IAO:0000115 Hamartoma-like growth in the placenta consisting of blood vessels Hamartoma-like growth in the placenta consisting of blood vessels NOT_TRANSLATED -en nl HP:0002579 rdfs:label Gastrointestinal dysmotility Gastro-intestinale dysmotiliteit CANDIDATE -en nl HP:0002579 IAO:0000115 Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes NOT_TRANSLATED -en nl HP:0100882 rdfs:label Fibrous hamartoma Fibreus hamartoom CANDIDATE -en nl HP:0100882 IAO:0000115 A rare, benign soft tissue tumor that typically occurs within the first two years of life A rare, benign soft tissue tumor that typically occurs within the first two years of life NOT_TRANSLATED -en nl HP:0002580 rdfs:label Volvulus Volvulus CANDIDATE -en nl HP:0002580 IAO:0000115 Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue NOT_TRANSLATED -en nl HP:0100885 rdfs:label Lateral venous anomaly Laterale veneuze afwijking CANDIDATE -en nl HP:0100885 IAO:0000115 Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life NOT_TRANSLATED -en nl HP:0100884 rdfs:label Compensatory scoliosis Compenserende scoliose CANDIDATE -en nl HP:0100884 IAO:0000115 A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time NOT_TRANSLATED -en nl HP:0002582 rdfs:label Atrophic gastritis Chronische atrofische gastritis CANDIDATE -en nl HP:0002582 IAO:0000115 Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue NOT_TRANSLATED -en nl HP:0100887 rdfs:label Abnormality of globe size Afwijking van de grootte van oogbol CANDIDATE -en nl HP:0100887 IAO:0000115 An abnormality in the size of the ocular globe (eyeball) An abnormality in the size of the ocular globe (eyeball) NOT_TRANSLATED -en nl HP:0002583 rdfs:label Colitis Colitis CANDIDATE -en nl HP:0002583 IAO:0000115 Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases NOT_TRANSLATED -en nl HP:0100886 rdfs:label Abnormality of globe location Abnormale locatie van oogbol CANDIDATE -en nl HP:0100886 IAO:0000115 An abnormality in the placement of the ocular globe (eyeball) An abnormality in the placement of the ocular globe (eyeball) NOT_TRANSLATED -en nl HP:0002584 rdfs:label Intestinal bleeding Intestinale bloeding CANDIDATE -en nl HP:0002584 IAO:0000115 Bleeding from the intestines Bleeding from the intestines NOT_TRANSLATED -en nl HP:0100889 rdfs:label Abnormality of the ductus choledochus Afwijking van de ductus choledochus CANDIDATE -en nl HP:0100889 IAO:0000115 An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder NOT_TRANSLATED -en nl HP:0002585 rdfs:label Abnormality of the peritoneum Afwijking van het peritoneum CANDIDATE -en nl HP:0002585 IAO:0000115 An abnormality of the peritoneum An abnormality of the peritoneum NOT_TRANSLATED -en nl HP:0100888 rdfs:label Interdigital loops Interdigitale lussen CANDIDATE -en nl HP:0002586 rdfs:label Peritonitis Peritonitis CANDIDATE -en nl HP:0002586 IAO:0000115 Inflammation of the peritoneum Inflammation of the peritoneum NOT_TRANSLATED -en nl HP:0100891 rdfs:label Bifid xiphoid process Bifide processus xiphoideus CANDIDATE -en nl HP:0100891 IAO:0000115 A cleft of the xiphoid process of the sternum A cleft of the xiphoid process of the sternum NOT_TRANSLATED -en nl HP:0002587 rdfs:label Projectile vomiting Projectielbraken CANDIDATE -en nl HP:0002587 IAO:0000115 Vomiting that ejects the gastric contents with great force Vomiting that ejects the gastric contents with great force NOT_TRANSLATED -en nl HP:0100890 rdfs:label Cyst of the ductus choledochus Cyste van de ductus choledochus CANDIDATE -en nl HP:0002588 rdfs:label Duodenal ulcer Ulcus duodeni CANDIDATE -en nl HP:0002588 IAO:0000115 An erosion of the mucous membrane in a portion of the duodenum An erosion of the mucous membrane in a portion of the duodenum NOT_TRANSLATED -en nl HP:0100893 rdfs:label Prominent xiphoid process Prominent processus xiphoideus CANDIDATE -en nl HP:0100893 IAO:0000115 Increased prominence of the xiphoid process of the sternum Increased prominence of the xiphoid process of the sternum NOT_TRANSLATED -en nl HP:0002589 rdfs:label Gastrointestinal atresia Gastro-intestinale atresie CANDIDATE -en nl HP:0100892 rdfs:label Abnormality of the xiphoid process Afwijking van het processus xiphoideus CANDIDATE -en nl HP:0100892 IAO:0000115 An abnormality of the xiphoid process of the sternum An abnormality of the xiphoid process of the sternum NOT_TRANSLATED -en nl HP:0002590 rdfs:label Paralytic ileus Paralytische ileus CANDIDATE -en nl HP:0002591 rdfs:label Polyphagia Polyfagie CANDIDATE -en nl HP:0002591 IAO:0000115 A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat NOT_TRANSLATED -en nl HP:0100894 rdfs:label Broad xiphoid process Breed processus xiphoideus CANDIDATE -en nl HP:0100894 IAO:0000115 Increased side-to-side width of the xiphoid process of the sternum Increased side-to-side width of the xiphoid process of the sternum NOT_TRANSLATED -en nl HP:0002592 rdfs:label Gastric ulcer Ulcus pepticum CANDIDATE -en nl HP:0002592 IAO:0000115 An ulcer, that is, an erosion of an area of the gastric mucous membrane An ulcer, that is, an erosion of an area of the gastric mucous membrane NOT_TRANSLATED -en nl HP:0002593 rdfs:label Intestinal lymphangiectasia Intestinale lymfangiëctasieën CANDIDATE -en nl HP:0002593 IAO:0000115 Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines NOT_TRANSLATED -en nl HP:0100896 rdfs:label Rectal polyposis Rectale polyposis CANDIDATE -en nl HP:0100896 IAO:0000115 The presence of multiple rectal hyperplastic/adenomatous polyps The presence of multiple rectal hyperplastic/adenomatous polyps NOT_TRANSLATED -en nl HP:0002594 rdfs:label Pancreatic hypoplasia Pancreatische hypoplasie CANDIDATE -en nl HP:0002594 IAO:0000115 Hypoplasia of the pancreas Hypoplasia of the pancreas NOT_TRANSLATED -en nl HP:0100899 rdfs:label Sclerosis of finger phalanx Sclerose van falanx van vinger CANDIDATE -en nl HP:0100899 IAO:0000115 An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002595 rdfs:label Ileus Ileus CANDIDATE -en nl HP:0002595 IAO:0000115 Acute obstruction of the intestines preventing passage of the contents of the intestines Acute obstruction of the intestines preventing passage of the contents of the intestines NOT_TRANSLATED -en nl HP:0100898 rdfs:label Connective tissue nevi Bindweefsel neavi CANDIDATE -en nl HP:0100898 IAO:0000115 Connective tissue nevi are hamartomas in which one or several components of the dermis is altered Connective tissue nevi are hamartomas in which one or several components of the dermis is altered NOT_TRANSLATED -en nl HP:0100901 rdfs:label Sclerosis of the distal phalanx of the 3rd finger Sclerose van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0002597 rdfs:label Abnormality of the vasculature Afwijking van het vaatstelsel CANDIDATE -en nl HP:0002597 IAO:0000115 An abnormality of the vasculature An abnormality of the vasculature NOT_TRANSLATED -en nl HP:0100900 rdfs:label Sclerosis of the distal phalanx of the 2nd finger Sclerose van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0100903 rdfs:label Sclerosis of the distal phalanx of the 5th finger Sclerose van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0002599 rdfs:label Head titubation Hoofd titubatie CANDIDATE -en nl HP:0002599 IAO:0000115 A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction NOT_TRANSLATED -en nl HP:0100902 rdfs:label Sclerosis of the distal phalanx of the 4th finger Sclerose van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0002600 rdfs:label Hyporeflexia of lower limbs Hyporeflexie van onderste ledematen CANDIDATE -en nl HP:0002600 IAO:0000115 Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping NOT_TRANSLATED -en nl HP:0100905 rdfs:label Sclerosis of the middle phalanx of the 3rd finger Sclerose van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0002601 rdfs:label Paresis of extensor muscles of the big toe Parese van de extensor spier van de grote teen CANDIDATE -en nl HP:0100904 rdfs:label Sclerosis of the middle phalanx of the 2nd finger Sclerose van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0100907 rdfs:label Sclerosis of the middle phalanx of the 5th finger Sclerose van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0100906 rdfs:label Sclerosis of the middle phalanx of the 4th finger Sclerose van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0002604 rdfs:label Gastrointestinal telangiectasia Gastro-intestinale telangiëctasieën CANDIDATE -en nl HP:0002604 IAO:0000115 Telangiectasia affecting the gastrointestinal tract Telangiectasia affecting the gastrointestinal tract NOT_TRANSLATED -en nl HP:0100909 rdfs:label Sclerosis of the proximal phalanx of the 3rd finger Sclerose van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0002605 rdfs:label Hepatic necrosis Hepatische necrose CANDIDATE -en nl HP:0002605 IAO:0000115 The presence of cell death (necrosis) affecting the liver The presence of cell death (necrosis) affecting the liver NOT_TRANSLATED -en nl HP:0100908 rdfs:label Sclerosis of the proximal phalanx of the 2nd finger Sclerose van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0100911 rdfs:label Sclerosis of the proximal phalanx of the 5th finger Sclerose van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0002607 rdfs:label Bowel incontinence Fecale incontinentie CANDIDATE -en nl HP:0002607 IAO:0000115 Involuntary fecal soiling in adults and children who have usually already been toilet trained Involuntary fecal soiling in adults and children who have usually already been toilet trained NOT_TRANSLATED -en nl HP:0100910 rdfs:label Sclerosis of the proximal phalanx of the 4th finger Sclerose van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0002608 rdfs:label Celiac disease Coeliakie CANDIDATE -en nl HP:0002608 IAO:0000115 Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases NOT_TRANSLATED -en nl HP:0100913 rdfs:label Sclerosis of the proximal phalanx of the thumb Sclerose van de proximale falanx van de duim CANDIDATE -en nl HP:0100913 IAO:0000115 An elevation of bone density in the proximal phalanx of the thumb An elevation of bone density in the proximal phalanx of the thumb NOT_TRANSLATED -en nl HP:0100912 rdfs:label Sclerosis of the distal phalanx of the thumb Sclerose van de distale falanx van de duim CANDIDATE -en nl HP:0100912 IAO:0000115 An elevation of bone density in the distal phalanx of the thumb An elevation of bone density in the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0100915 rdfs:label Sclerosis of distal finger phalanx Sclerose van distale vinger falanx CANDIDATE -en nl HP:0100915 IAO:0000115 An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002611 rdfs:label Cholestatic liver disease Cholestatische leverziekte CANDIDATE -en nl HP:0100914 rdfs:label Sclerosis of the 1st metacarpal Sclerose van de 1e metacarpaal CANDIDATE -en nl HP:0002612 rdfs:label Congenital hepatic fibrosis Aangeboren hepatische fibrose CANDIDATE -en nl HP:0002612 IAO:0000115 The presence of fibrosis of that part of the liver with congenital onset The presence of fibrosis of that part of the liver with congenital onset NOT_TRANSLATED -en nl HP:0100917 rdfs:label Sclerosis of proximal finger phalanx Sclerose van proximale vinger falanx CANDIDATE -en nl HP:0100917 IAO:0000115 An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002613 rdfs:label Biliary cirrhosis Biliaire cirrose CANDIDATE -en nl HP:0002613 IAO:0000115 Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease NOT_TRANSLATED -en nl HP:0100916 rdfs:label Sclerosis of middle finger phalanx Sclerose van middelvinger falanx CANDIDATE -en nl HP:0100916 IAO:0000115 An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002614 rdfs:label Hepatic periportal necrosis Hepatische periportale necrose CANDIDATE -en nl HP:0002614 IAO:0000115 A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein NOT_TRANSLATED -en nl HP:0100919 rdfs:label Sclerosis of 3rd finger phalanx Sclerose van 3e vinger falanx CANDIDATE -en nl HP:0100919 IAO:0000115 An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002615 rdfs:label Hypotension Hypotensie CANDIDATE -en nl HP:0002615 IAO:0000115 Low Blood Pressure, vascular hypotension Low Blood Pressure, vascular hypotension NOT_TRANSLATED -en nl HP:0100918 rdfs:label Sclerosis of 2nd finger phalanx Sclerose van 2e vinger falanx CANDIDATE -en nl HP:0100918 IAO:0000115 An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002616 rdfs:label Aortic root aneurysm Aneurysma van de aorta wortel CANDIDATE -en nl HP:0002616 IAO:0000115 An abnormal localized widening (dilatation) of the aortic root An abnormal localized widening (dilatation) of the aortic root NOT_TRANSLATED -en nl HP:0100921 rdfs:label Sclerosis of 5th finger phalanx Sclerose van 5e vinger falanx CANDIDATE -en nl HP:0100921 IAO:0000115 An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002617 rdfs:label Vascular dilatation Dilatatie CANDIDATE -en nl HP:0002617 IAO:0000115 Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart NOT_TRANSLATED -en nl HP:0100920 rdfs:label Sclerosis of 4th finger phalanx Sclerose van 4e vinger falanx CANDIDATE -en nl HP:0100920 IAO:0000115 An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0100923 rdfs:label Clavicular sclerosis Claviculaire sclerose CANDIDATE -en nl HP:0100923 IAO:0000115 An increase in bone density within the clavicle An increase in bone density within the clavicle NOT_TRANSLATED -en nl HP:0002619 rdfs:label Varicose veins Spataderen CANDIDATE -en nl HP:0002619 IAO:0000115 Enlarged and tortuous veins Enlarged and tortuous veins NOT_TRANSLATED -en nl HP:0100922 rdfs:label Sclerosis of thumb phalanx Sclerose van duim falanx CANDIDATE -en nl HP:0100925 rdfs:label Sclerosis of foot bone Sclerose van voetbot CANDIDATE -en nl HP:0100925 IAO:0000115 An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002621 rdfs:label Atherosclerosis Atherosclerose CANDIDATE -en nl HP:0002621 IAO:0000115 A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow NOT_TRANSLATED -en nl HP:0100924 rdfs:label Sclerosis of toe phalanx Sclerose van teen falanx CANDIDATE -en nl HP:0100924 IAO:0000115 An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0100927 rdfs:label Sclerosis of 3rd toe phalanx Sclerose van 3e teen falanx CANDIDATE -en nl HP:0100927 IAO:0000115 An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002623 rdfs:label Overriding aorta Overriding aorta CANDIDATE -en nl HP:0002623 IAO:0000115 An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle NOT_TRANSLATED -en nl HP:0100926 rdfs:label Sclerosis of 2nd toe phalanx Sclerose van 2e teen falanx CANDIDATE -en nl HP:0100926 IAO:0000115 An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002624 rdfs:label Abnormal venous morphology Abnormale veneuze morfologie CANDIDATE -en nl HP:0002624 IAO:0000115 An anomaly of vein An anomaly of vein NOT_TRANSLATED -en nl HP:0100929 rdfs:label Sclerosis of 5th toe phalanx Sclerose van 5e teen falanx CANDIDATE -en nl HP:0100929 IAO:0000115 An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002625 rdfs:label Deep venous thrombosis Diep veneuze trombose CANDIDATE -en nl HP:0002625 IAO:0000115 Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected NOT_TRANSLATED -en nl HP:0100928 rdfs:label Sclerosis of 4th toe phalanx Sclerose van 4e teen falanx CANDIDATE -en nl HP:0100928 IAO:0000115 An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002626 rdfs:label Venous varicosities of celiac and mesenteric vessels Veneuze varicositeiten van truncus coeliacus en mesenterische vaten CANDIDATE -en nl HP:0002626 IAO:0000115 Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein NOT_TRANSLATED -en nl HP:0100931 rdfs:label Sclerosis of the proximal phalanx of the 2nd toe Sclerose van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0100931 IAO:0000115 An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002627 rdfs:label Right aortic arch with mirror image branching Rechter aortaboog met vertakkingen in spiegelbeeld CANDIDATE -en nl HP:0002627 IAO:0000115 The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery NOT_TRANSLATED -en nl HP:0100930 rdfs:label Sclerosis of hallux phalanx Sclerose van hallux falanx CANDIDATE -en nl HP:0100930 IAO:0000115 An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0100933 rdfs:label Sclerosis of the proximal phalanx of the 4th toe Sclerose van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0002629 rdfs:label Gastrointestinal arteriovenous malformation Gastro-intestinale arterioveneuze malformatie CANDIDATE -en nl HP:0002629 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract NOT_TRANSLATED -en nl HP:0100932 rdfs:label Sclerosis of the proximal phalanx of the 3rd toe Sclerose van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0100932 IAO:0000115 An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002630 rdfs:label Fat malabsorption Vet malabsorptie CANDIDATE -en nl HP:0002630 IAO:0000115 Abnormality of the absorption of fat from the gastrointestinal tract Abnormality of the absorption of fat from the gastrointestinal tract NOT_TRANSLATED -en nl HP:0100935 rdfs:label Sclerosis of the middle phalanx of the 2nd toe Sclerose van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0100934 rdfs:label Sclerosis of the proximal phalanx of the 5th toe Sclerose van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0002632 rdfs:label Low-to-normal blood pressure Laag-tot-normale bloeddruk CANDIDATE -en nl HP:0100937 rdfs:label Sclerosis of the middle phalanx of the 4th toe Sclerose van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0002633 rdfs:label Vasculitis Vasculitis CANDIDATE -en nl HP:0002633 IAO:0000115 Inflammation of blood vessel Inflammation of blood vessel NOT_TRANSLATED -en nl HP:0100936 rdfs:label Sclerosis of the middle phalanx of the 3rd toe Sclerose van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0100936 IAO:0000115 An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002634 rdfs:label Arteriosclerosis Arteriosclerose CANDIDATE -en nl HP:0002634 IAO:0000115 Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity NOT_TRANSLATED -en nl HP:0100939 rdfs:label Sclerosis of the distal phalanx of the 2nd toe Sclerose van de distale falanx van de 2e teen CANDIDATE -en nl HP:0002635 rdfs:label Type IV atherosclerotic lesion Type IV atherosclerotische laesies CANDIDATE -en nl HP:0002635 IAO:0000115 In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion NOT_TRANSLATED -en nl HP:0100938 rdfs:label Sclerosis of the middle phalanx of the 5th toe Sclerose van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0002636 rdfs:label Dilatation of an abdominal artery Dilatatie van een abdominale slagader CANDIDATE -en nl HP:0002636 IAO:0000115 Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta NOT_TRANSLATED -en nl HP:0100941 rdfs:label Sclerosis of the distal phalanx of the 4th toe Sclerose van de distale falanx van de 4e teen CANDIDATE -en nl HP:0002637 rdfs:label Cerebral ischemia Cerebrale ischemie CANDIDATE -en nl HP:0002637 IAO:0000115 Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue NOT_TRANSLATED -en nl HP:0100940 rdfs:label Sclerosis of the distal phalanx of the 3rd toe Sclerose van de distale falanx van de 3e teen CANDIDATE -en nl HP:0100940 IAO:0000115 An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002638 rdfs:label Superficial thrombophlebitis Oppervlakkige tromboflebitis CANDIDATE -en nl HP:0002638 IAO:0000115 Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein) Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein) NOT_TRANSLATED -en nl HP:0100943 rdfs:label Sclerosis of the proximal phalanx of the hallux Sclerose van de proximale falanx van de hallux CANDIDATE -en nl HP:0002639 rdfs:label Budd-Chiari syndrome Budd-Chairi syndroom CANDIDATE -en nl HP:0002639 IAO:0000115 Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience NOT_TRANSLATED -en nl HP:0100942 rdfs:label Sclerosis of the distal phalanx of the 5th toe Sclerose van de distale falanx van de 5e teen CANDIDATE -en nl HP:0002640 rdfs:label Hypertension associated with pheochromocytoma Hypertensie geassocieerd met feochromocytoom CANDIDATE -en nl HP:0002640 IAO:0000115 A type of hypertension associated with pheochromocytoma A type of hypertension associated with pheochromocytoma NOT_TRANSLATED -en nl HP:0100945 rdfs:label Sclerosis of the 1st metatarsal Sclerose van de 1e metatarsaal CANDIDATE -en nl HP:0002641 rdfs:label Peripheral thrombosis Perifere trombose CANDIDATE -en nl HP:0100944 rdfs:label Sclerosis of the distal phalanx of the hallux Sclerose van de distale falanx van de hallux CANDIDATE -en nl HP:0002642 rdfs:label Arteriovenous fistulas of celiac and mesenteric vessels Arterioveneuze fistels van truncus coeliacus of mesenterische vaten CANDIDATE -en nl HP:0100947 rdfs:label Sclerosis of middle toe phalanx Sclerose van middelste teen falanx CANDIDATE -en nl HP:0100947 IAO:0000115 An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002643 rdfs:label Neonatal respiratory distress Neonatale respiratoire nood CANDIDATE -en nl HP:0002643 IAO:0000115 Respiratory difficulty as newborn Respiratory difficulty as newborn NOT_TRANSLATED -en nl HP:0100946 rdfs:label Sclerosis of proximal toe phalanx Sclerose van proximale teen falanx CANDIDATE -en nl HP:0100946 IAO:0000115 An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0002644 rdfs:label Abnormal pelvic girdle bone morphology Afwijking van de bekkengrodel morfologie CANDIDATE -en nl HP:0002644 IAO:0000115 An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs NOT_TRANSLATED -en nl HP:0002645 rdfs:label Wormian bones Naadbeenderen CANDIDATE -en nl HP:0002645 IAO:0000115 The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium NOT_TRANSLATED -en nl HP:0100948 rdfs:label Sclerosis of distal toe phalanx Sclerose van distale teen falanx CANDIDATE -en nl HP:0100948 IAO:0000115 An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0100951 rdfs:label Enlarged fossa interpeduncularis Vergrote fossa interpeduncularis CANDIDATE -en nl HP:0002647 rdfs:label Aortic dissection Aortadissectie CANDIDATE -en nl HP:0002647 IAO:0000115 Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta NOT_TRANSLATED -en nl HP:0100950 rdfs:label Decreased 3-hydroxyacyl-CoA dehydrogenase level Verminderde activiteit van 3-hydroxyacyl-CoA dehydrogenase CANDIDATE -en nl HP:0100953 rdfs:label Enlarged interhemispheric fissure Vergrote interhemisferische fissuur CANDIDATE -en nl HP:0100952 rdfs:label Enlarged sylvian cistern Enlarged sylvian cistern NOT_TRANSLATED -en nl HP:0100952 IAO:0000115 An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure) An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure) NOT_TRANSLATED -en nl HP:0002650 rdfs:label Scoliosis Scoliose CANDIDATE -en nl HP:0002650 IAO:0000115 The presence of an abnormal lateral curvature of the spine The presence of an abnormal lateral curvature of the spine NOT_TRANSLATED -en nl HP:0100955 rdfs:label Giant cell granuloma of mandible Reusceltumor van de kaak CANDIDATE -en nl HP:0002651 rdfs:label Spondyloepimetaphyseal dysplasia Spondyloepimetafysaire dysplasie CANDIDATE -en nl HP:0100954 rdfs:label Open operculum Open operculum CANDIDATE -en nl HP:0100954 IAO:0000115 Underdevelopment of the operculum Underdevelopment of the operculum NOT_TRANSLATED -en nl HP:0002652 rdfs:label Skeletal dysplasia Skelet dysplasie CANDIDATE -en nl HP:0002652 IAO:0000115 A general term describing features characterized by abnormal development of bones and connective tissues A general term describing features characterized by abnormal development of bones and connective tissues NOT_TRANSLATED -en nl HP:0100957 rdfs:label Abnormal renal medulla morphology Afwijking van het niermerg CANDIDATE -en nl HP:0100957 IAO:0000115 Any structural abnormality of the medulla of the kidney Any structural abnormality of the medulla of the kidney NOT_TRANSLATED -en nl HP:0002653 rdfs:label Bone pain Botpijn CANDIDATE -en nl HP:0002653 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone NOT_TRANSLATED -en nl HP:0002654 rdfs:label Multiple epiphyseal dysplasia Multipele epifysaire dysplasie CANDIDATE -en nl HP:0100959 rdfs:label Dense metaphyseal bands Dichte metafysaire banden CANDIDATE -en nl HP:0100959 IAO:0000115 Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex NOT_TRANSLATED -en nl HP:0002655 rdfs:label Spondyloepiphyseal dysplasia Spondyloepifysaire dysplasie CANDIDATE -en nl HP:0002655 IAO:0000115 A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses) A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses) NOT_TRANSLATED -en nl HP:0100958 rdfs:label Narrow foramen obturatorium Small foramen obturatorium CANDIDATE -en nl HP:0100958 IAO:0000115 Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis NOT_TRANSLATED -en nl HP:0002656 rdfs:label Epiphyseal dysplasia Epifysaire dysplasie CANDIDATE -en nl HP:0100961 rdfs:label Enlarged hippocampus Vergrote hippocampus CANDIDATE -en nl HP:0100961 IAO:0000115 Increase in size of the hippocampus Increase in size of the hippocampus NOT_TRANSLATED -en nl HP:0002657 rdfs:label Spondylometaphyseal dysplasia Spondyloemetafysaire dysplasie CANDIDATE -en nl HP:0100960 rdfs:label Lateral ventricular asymmetry Asymmetrische ventrikels CANDIDATE -en nl HP:0100960 IAO:0000115 Abnormal difference in size between the left and right lateral cerebral ventricles Abnormal difference in size between the left and right lateral cerebral ventricles NOT_TRANSLATED -en nl HP:0100963 rdfs:label Hyperesthesia Hyperesthesie CANDIDATE -en nl HP:0100963 IAO:0000115 Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain NOT_TRANSLATED -en nl HP:0002659 rdfs:label Increased susceptibility to fractures Verhoogde gevoeligheid voor fracturen CANDIDATE -en nl HP:0002659 IAO:0000115 An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture NOT_TRANSLATED -en nl HP:0100962 rdfs:label Shyness Verlegenheid CANDIDATE -en nl HP:0002661 rdfs:label Painless fractures due to injury Pijloze fracturen vanwege trauma CANDIDATE -en nl HP:0002661 IAO:0000115 An increased tendency to fractures following trauma, with fractures occurring without pain An increased tendency to fractures following trauma, with fractures occurring without pain NOT_TRANSLATED -en nl HP:0002663 rdfs:label Delayed epiphyseal ossification Vertraagde epifysaire ossificatie CANDIDATE -en nl HP:0002664 rdfs:label Neoplasm Neoplasma CANDIDATE -en nl HP:0002664 IAO:0000115 An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) NOT_TRANSLATED -en nl HP:0002665 rdfs:label Lymphoma Lymfoom CANDIDATE -en nl HP:0002665 IAO:0000115 A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells NOT_TRANSLATED -en nl HP:0002666 rdfs:label Pheochromocytoma Feochromocytoom CANDIDATE -en nl HP:0002666 IAO:0000115 Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines NOT_TRANSLATED -en nl HP:0002667 rdfs:label Nephroblastoma Nefroblastoom CANDIDATE -en nl HP:0002667 IAO:0000115 The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children NOT_TRANSLATED -en nl HP:0002668 rdfs:label Paraganglioma Paraganglioom CANDIDATE -en nl HP:0002668 IAO:0000115 A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation NOT_TRANSLATED -en nl HP:0002669 rdfs:label Osteosarcoma Osteosarcoom CANDIDATE -en nl HP:0002669 IAO:0000115 A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor NOT_TRANSLATED -en nl HP:0002671 rdfs:label Basal cell carcinoma Basaalcelcarcinoom CANDIDATE -en nl HP:0002671 IAO:0000115 The presence of a basal cell carcinoma of the skin The presence of a basal cell carcinoma of the skin NOT_TRANSLATED -en nl HP:0002672 rdfs:label Gastrointestinal carcinoma Gastro-intestinaal carcinoom CANDIDATE -en nl HP:0002673 rdfs:label Coxa valga Coxa valga CANDIDATE -en nl HP:0002673 IAO:0000115 Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults) Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults) NOT_TRANSLATED -en nl HP:0002676 rdfs:label Cloverleaf skull Klaverblad schedel CANDIDATE -en nl HP:0002676 IAO:0000115 Trilobar skull configuration when viewed from the front or behind Trilobar skull configuration when viewed from the front or behind NOT_TRANSLATED -en nl HP:0002677 rdfs:label Small foramen magnum Klein foramen magnum CANDIDATE -en nl HP:0002677 IAO:0000115 An abnormal narrowing of the foramen magnum An abnormal narrowing of the foramen magnum NOT_TRANSLATED -en nl HP:0002678 rdfs:label Skull asymmetry Schedel asymmetrie CANDIDATE -en nl HP:0002679 rdfs:label Abnormal sella turcica morphology Afwijking van de sella turcica CANDIDATE -en nl HP:0002679 IAO:0000115 Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull NOT_TRANSLATED -en nl HP:0002680 rdfs:label J-shaped sella turcica J-vormige sella turcica CANDIDATE -en nl HP:0002680 IAO:0000115 A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull NOT_TRANSLATED -en nl HP:0002681 rdfs:label Deformed sella turcica Misvormde sella turcica CANDIDATE -en nl HP:0002682 rdfs:label Broad skull Brede schedel CANDIDATE -en nl HP:0002682 IAO:0000115 Increased width of the skull Increased width of the skull NOT_TRANSLATED -en nl HP:0002683 rdfs:label Abnormal calvaria morphology Afwijking van de calvaria CANDIDATE -en nl HP:0002683 IAO:0000115 Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain NOT_TRANSLATED -en nl HP:0002684 rdfs:label Thickened calvaria Verdikte calvaria CANDIDATE -en nl HP:0002684 IAO:0000115 The presence of an abnormally thick calvaria The presence of an abnormally thick calvaria NOT_TRANSLATED -en nl HP:0002686 rdfs:label Prenatal maternal abnormality Prenatale maternale afwijking CANDIDATE -en nl HP:0002687 rdfs:label Abnormality of frontal sinus Afwijking van de frontale sinus CANDIDATE -en nl HP:0002687 IAO:0000115 An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone NOT_TRANSLATED -en nl HP:0002688 rdfs:label Absent frontal sinuses Afwezige frontale sinussen CANDIDATE -en nl HP:0002688 IAO:0000115 Aplasia of frontal sinus Aplasia of frontal sinus NOT_TRANSLATED -en nl HP:0002689 rdfs:label Absent paranasal sinuses Afwezige neusbijholten CANDIDATE -en nl HP:0002689 IAO:0000115 Aplasia of the paranasal sinuses Aplasia of the paranasal sinuses NOT_TRANSLATED -en nl HP:0002690 rdfs:label Large sella turcica Grote sella turcica CANDIDATE -en nl HP:0002690 IAO:0000115 An abnormal enlargement of the sella turcica An abnormal enlargement of the sella turcica NOT_TRANSLATED -en nl HP:0002691 rdfs:label Platybasia Platybasie CANDIDATE -en nl HP:0002691 IAO:0000115 A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base NOT_TRANSLATED -en nl HP:0002692 rdfs:label Hypoplastic facial bones Hypoplastische gezichtsbotten CANDIDATE -en nl HP:0002693 rdfs:label Abnormality of the skull base Afwijking van de schedel basis CANDIDATE -en nl HP:0002693 IAO:0000115 An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components NOT_TRANSLATED -en nl HP:0002694 rdfs:label Sclerosis of skull base Sclerose van schedel basis CANDIDATE -en nl HP:0002694 IAO:0000115 Increased bone density of the skull base without significant changes in bony contour Increased bone density of the skull base without significant changes in bony contour NOT_TRANSLATED -en nl HP:0002696 rdfs:label Abnormal parietal bone morphology Afwijking van os parietale CANDIDATE -en nl HP:0002696 IAO:0000115 Any abnormality of the parietal bone of the skull Any abnormality of the parietal bone of the skull NOT_TRANSLATED -en nl HP:0002697 rdfs:label Parietal foramina Foramen parietale CANDIDATE -en nl HP:0002697 IAO:0000115 The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide NOT_TRANSLATED -en nl HP:0002699 rdfs:label Abnormal foramen magnum morphology Afwijking van het foramen magnum CANDIDATE -en nl HP:0002699 IAO:0000115 Any abnormality of the foramen magnum Any abnormality of the foramen magnum NOT_TRANSLATED -en nl HP:0002700 rdfs:label Large foramen magnum Grote foramen magnum CANDIDATE -en nl HP:0002700 IAO:0000115 An abnormal increase in the size of the foramen magnum An abnormal increase in the size of the foramen magnum NOT_TRANSLATED -en nl HP:0002703 rdfs:label Abnormality of skull ossification Afwijking van de schedel ossificatie CANDIDATE -en nl HP:0002703 IAO:0000115 An abnormality of the process of ossification of the skull An abnormality of the process of ossification of the skull NOT_TRANSLATED -en nl HP:0002705 rdfs:label High, narrow palate Hoog, smal gehemelte CANDIDATE -en nl HP:0002705 IAO:0000115 The presence of a high and narrow palate The presence of a high and narrow palate NOT_TRANSLATED -en nl HP:0002707 rdfs:label Palate telangiectasia Palatum teleangiëctasieën CANDIDATE -en nl HP:0002707 IAO:0000115 The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate NOT_TRANSLATED -en nl HP:0002708 rdfs:label Prominent median palatal raphe Prominente mediane raphe palati CANDIDATE -en nl HP:0002708 IAO:0000115 Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate NOT_TRANSLATED -en nl HP:0002710 rdfs:label Commissural lip pit Commissurale lip pit CANDIDATE -en nl HP:0002710 IAO:0000115 A depression located at an oral commissure A depression located at an oral commissure NOT_TRANSLATED -en nl HP:0002711 rdfs:label Exaggerated median tongue furrow Exaggerated median tongue furrow NOT_TRANSLATED -en nl HP:0002711 IAO:0000115 Increased depth of the median tongue furrow Increased depth of the median tongue furrow NOT_TRANSLATED -en nl HP:0002714 rdfs:label Downturned corners of mouth Naar beneden gebogen mondhoeken CANDIDATE -en nl HP:0002714 IAO:0000115 A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure NOT_TRANSLATED -en nl HP:0002715 rdfs:label Abnormality of the immune system Afwijking van het immuunsysteem CANDIDATE -en nl HP:0002715 IAO:0000115 An abnormality of the immune system An abnormality of the immune system NOT_TRANSLATED -en nl HP:0002716 rdfs:label Lymphadenopathy Lymfadenopathie CANDIDATE -en nl HP:0002716 IAO:0000115 Enlargment (swelling) of a lymph node Enlargment (swelling) of a lymph node NOT_TRANSLATED -en nl HP:0002717 rdfs:label Adrenal overactivity Bijnier overactiviteit CANDIDATE -en nl HP:0002718 rdfs:label Recurrent bacterial infections Terugkerende bacteriële infecties CANDIDATE -en nl HP:0002718 IAO:0000115 Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection NOT_TRANSLATED -en nl HP:0002719 rdfs:label Recurrent infections Recidiverende infecties CANDIDATE -en nl HP:0002719 IAO:0000115 Increased susceptibility to infections Increased susceptibility to infections NOT_TRANSLATED -en nl HP:0002720 rdfs:label Decreased circulating IgA level IgA-deficiëntie CANDIDATE -en nl HP:0002720 IAO:0000115 Decreased levels of immunoglobulin A (IgA) Decreased levels of immunoglobulin A (IgA) NOT_TRANSLATED -en nl HP:0002721 rdfs:label Immunodeficiency Immuundeficiëntie CANDIDATE -en nl HP:0002721 IAO:0000115 Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance NOT_TRANSLATED -en nl HP:0002722 rdfs:label Recurrent abscess formation Recidiverende abces vorming CANDIDATE -en nl HP:0002722 IAO:0000115 An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses NOT_TRANSLATED -en nl HP:0002723 rdfs:label Absence of bactericidal oxidative respiratory burst in phagocytes Afwezigheid van bactericide oxidate respiratory burst in fagocyten CANDIDATE -en nl HP:0002723 IAO:0000115 An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity NOT_TRANSLATED -en nl HP:0002724 rdfs:label Recurrent Aspergillus infections Recidiverende Aspergillus infecties CANDIDATE -en nl HP:0002724 IAO:0000115 An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections NOT_TRANSLATED -en nl HP:0002725 rdfs:label Systemic lupus erythematosus Systemische lupus erythematosus CANDIDATE -en nl HP:0002725 IAO:0000115 A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes NOT_TRANSLATED -en nl HP:0002726 rdfs:label Recurrent Staphylococcus aureus infections Recintellectual disability Staphylococcus aureus infecties CANDIDATE -en nl HP:0002726 IAO:0000115 Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection NOT_TRANSLATED -en nl HP:0002728 rdfs:label Chronic mucocutaneous candidiasis Chronische mucocutane candidiasis CANDIDATE -en nl HP:0002728 IAO:0000115 Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails NOT_TRANSLATED -en nl HP:0002729 rdfs:label Follicular hyperplasia Folliculaire hyperplasie CANDIDATE -en nl HP:0002729 IAO:0000115 Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers NOT_TRANSLATED -en nl HP:0002730 rdfs:label Chronic noninfectious lymphadenopathy Chronische noninfectious lymfadenopathie CANDIDATE -en nl HP:0002730 IAO:0000115 A chronic form of lymphadenopathy that is not related to infection A chronic form of lymphadenopathy that is not related to infection NOT_TRANSLATED -en nl HP:0002731 rdfs:label Decreased lymphocyte apoptosis Verminderde lymfocytaire apoptose CANDIDATE -en nl HP:0002731 IAO:0000115 A reduction in the rate of apoptosis in lymphocytes A reduction in the rate of apoptosis in lymphocytes NOT_TRANSLATED -en nl HP:0002732 rdfs:label Lymph node hypoplasia Lymfeknoop hypoplasie CANDIDATE -en nl HP:0002732 IAO:0000115 Underdevelopment of the lymph nodes Underdevelopment of the lymph nodes NOT_TRANSLATED -en nl HP:0002733 rdfs:label Abnormal lymph node morphology Afwijking van de lymfeknopen CANDIDATE -en nl HP:0002733 IAO:0000115 A structural lymph node abnormality A structural lymph node abnormality NOT_TRANSLATED -en nl HP:0002737 rdfs:label Thick skull base Dikke schedel basis CANDIDATE -en nl HP:0002738 rdfs:label Hypoplastic frontal sinuses Hypoplastic frontale sinussen CANDIDATE -en nl HP:0002738 IAO:0000115 Underdevelopment of frontal sinus Underdevelopment of frontal sinus NOT_TRANSLATED -en nl HP:0002740 rdfs:label Recurrent E. coli infections Recidiverende E. coli-infecties CANDIDATE -en nl HP:0002740 IAO:0000115 Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent NOT_TRANSLATED -en nl HP:0002741 rdfs:label Recurrent Serratia marcescens infections Recidiverende Serratia marcescens infecties CANDIDATE -en nl HP:0002741 IAO:0000115 Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection NOT_TRANSLATED -en nl HP:0002742 rdfs:label Recurrent Klebsiella infections Recidiverende Klebsiella-infecties CANDIDATE -en nl HP:0002742 IAO:0000115 Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection NOT_TRANSLATED -en nl HP:0002743 rdfs:label Recurrent enteroviral infections Recidiverende enterovirale infecties CANDIDATE -en nl HP:0002743 IAO:0000115 Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection NOT_TRANSLATED -en nl HP:0002744 rdfs:label Bilateral cleft lip and palate Bilaterale gespleten lip en gehemelte CANDIDATE -en nl HP:0002744 IAO:0000115 Cleft lip and cleft palate affecting both sides of the face Cleft lip and cleft palate affecting both sides of the face NOT_TRANSLATED -en nl HP:0002745 rdfs:label Oral leukoplakia Orale leukoplakie CANDIDATE -en nl HP:0002745 IAO:0000115 A thickened white patch on the oral mucosa that cannot be rubbed off A thickened white patch on the oral mucosa that cannot be rubbed off NOT_TRANSLATED -en nl HP:0002747 rdfs:label Respiratory insufficiency due to muscle weakness Respiratoire insufficiëntie als gevolg van spierzwakte CANDIDATE -en nl HP:0002748 rdfs:label Rickets Rachitis CANDIDATE -en nl HP:0002748 IAO:0000115 Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets NOT_TRANSLATED -en nl HP:0002749 rdfs:label Osteomalacia Osteomalacie CANDIDATE -en nl HP:0002749 IAO:0000115 Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets NOT_TRANSLATED -en nl HP:0002750 rdfs:label Delayed skeletal maturation Vertraagde maturiteit van het skelet CANDIDATE -en nl HP:0002750 IAO:0000115 A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body NOT_TRANSLATED -en nl HP:0002751 rdfs:label Kyphoscoliosis Kyphoscoliosis CANDIDATE -en nl HP:0002751 IAO:0000115 An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane NOT_TRANSLATED -en nl HP:0002752 rdfs:label Sparse bone trabeculae Spaarzame trabeculae CANDIDATE -en nl HP:0002753 rdfs:label Thin bony cortex Dunne bot cortex CANDIDATE -en nl HP:0002753 IAO:0000115 Abnormal thinning of the cortical region of bones Abnormal thinning of the cortical region of bones NOT_TRANSLATED -en nl HP:0002754 rdfs:label Osteomyelitis Osteomyelitis CANDIDATE -en nl HP:0002754 IAO:0000115 Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism NOT_TRANSLATED -en nl HP:0002756 rdfs:label Pathologic fracture Pathologische fractuur CANDIDATE -en nl HP:0002756 IAO:0000115 A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone NOT_TRANSLATED -en nl HP:0002757 rdfs:label Recurrent fractures Recidiverende fracturen CANDIDATE -en nl HP:0002757 IAO:0000115 The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture) The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture) NOT_TRANSLATED -en nl HP:0002758 rdfs:label Osteoarthritis Osteoarthritis CANDIDATE -en nl HP:0002758 IAO:0000115 Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity NOT_TRANSLATED -en nl HP:0002761 rdfs:label Generalized joint laxity Gegeneraliseerde gewrichtsmobiliteit CANDIDATE -en nl HP:0002761 IAO:0000115 Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body NOT_TRANSLATED -en nl HP:0002762 rdfs:label Multiple exostoses Multipele exostosen CANDIDATE -en nl HP:0002762 IAO:0000115 Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage NOT_TRANSLATED -en nl HP:0002763 rdfs:label Abnormal cartilage morphology Abnormale kraakbeen morfologie CANDIDATE -en nl HP:0002763 IAO:0000115 Any morphological abnormality of cartilage Any morphological abnormality of cartilage NOT_TRANSLATED -en nl HP:0002764 rdfs:label Stippled chondral calcification Gespikkelde chondrale verkalking CANDIDATE -en nl HP:0002764 IAO:0000115 Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints) Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints) NOT_TRANSLATED -en nl HP:0002766 rdfs:label Relatively short spine Relatief korte wervelkolom CANDIDATE -en nl HP:0002777 rdfs:label Tracheal stenosis Tracheale stenose CANDIDATE -en nl HP:0002778 rdfs:label Abnormal tracheal morphology Afwijking van de trachea CANDIDATE -en nl HP:0002778 IAO:0000115 A structural anomaly of the trachea A structural anomaly of the trachea NOT_TRANSLATED -en nl HP:0002779 rdfs:label Tracheomalacia Tracheomalacie CANDIDATE -en nl HP:0002780 rdfs:label Bronchomalacia Bronchomalacie CANDIDATE -en nl HP:0002780 IAO:0000115 Weakness or softness of the cartilage in the walls of the bronchial tubes Weakness or softness of the cartilage in the walls of the bronchial tubes NOT_TRANSLATED -en nl HP:0002781 rdfs:label Upper airway obstruction Bovenste luchtweg obstructie CANDIDATE -en nl HP:0002781 IAO:0000115 Increased resistance to the passage of air in the upper airway Increased resistance to the passage of air in the upper airway NOT_TRANSLATED -en nl HP:0002783 rdfs:label Recurrent lower respiratory tract infections Recidiverende onderste luchtweginfecties CANDIDATE -en nl HP:0002783 IAO:0000115 An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections NOT_TRANSLATED -en nl HP:0002786 rdfs:label Tracheobronchomalacia Tracheobronchomalacie CANDIDATE -en nl HP:0002786 IAO:0000115 Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways NOT_TRANSLATED -en nl HP:0002787 rdfs:label Tracheal calcification Tracheale calcificatie CANDIDATE -en nl HP:0002787 IAO:0000115 Calcification (abnormal deposits of calcium) in the tracheal tissues Calcification (abnormal deposits of calcium) in the tracheal tissues NOT_TRANSLATED -en nl HP:0002788 rdfs:label Recurrent upper respiratory tract infections Recidiverende bovenste luchtweginfecties CANDIDATE -en nl HP:0002788 IAO:0000115 An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) NOT_TRANSLATED -en nl HP:0002789 rdfs:label Tachypnea Tachypnoe CANDIDATE -en nl HP:0002789 IAO:0000115 Very rapid breathing Very rapid breathing NOT_TRANSLATED -en nl HP:0002790 rdfs:label Neonatal breathing dysregulation Neonatale ademhaling dysregulatie CANDIDATE -en nl HP:0002791 rdfs:label Hypoventilation Hypoventilatie CANDIDATE -en nl HP:0002791 IAO:0000115 A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide) A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide) NOT_TRANSLATED -en nl HP:0002792 rdfs:label Reduced vital capacity Verminderde vitale capaciteit CANDIDATE -en nl HP:0002792 IAO:0000115 An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung NOT_TRANSLATED -en nl HP:0002793 rdfs:label Abnormal pattern of respiration Abnormaal patroon van ademhaling CANDIDATE -en nl HP:0002793 IAO:0000115 An anomaly of the rhythm or depth of breathing An anomaly of the rhythm or depth of breathing NOT_TRANSLATED -en nl HP:0002795 rdfs:label Abnormal respiratory system physiology Afwijking in functionele ademhaling CANDIDATE -en nl HP:0002797 rdfs:label Osteolysis Osteolyse CANDIDATE -en nl HP:0002797 IAO:0000115 Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium NOT_TRANSLATED -en nl HP:0002803 rdfs:label Congenital contracture Aangeboren contractuur CANDIDATE -en nl HP:0002803 IAO:0000115 One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth NOT_TRANSLATED -en nl HP:0002804 rdfs:label Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita CANDIDATE -en nl HP:0002804 IAO:0000115 Multiple congenital contractures in different body areas Multiple congenital contractures in different body areas NOT_TRANSLATED -en nl HP:0002805 rdfs:label Accelerated bone age after puberty Versnelde bot leeftijd na de puberteit CANDIDATE -en nl HP:0002808 rdfs:label Kyphosis Kyfose CANDIDATE -en nl HP:0002808 IAO:0000115 Exaggerated anterior convexity of the thoracic vertebral column Exaggerated anterior convexity of the thoracic vertebral column NOT_TRANSLATED -en nl HP:0002810 rdfs:label Dumbbell-shaped metaphyses Halter-vormige metafyses CANDIDATE -en nl HP:0002812 rdfs:label Coxa vara Coxa vara CANDIDATE -en nl HP:0002812 IAO:0000115 Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees NOT_TRANSLATED -en nl HP:0002813 rdfs:label Abnormality of limb bone morphology Afwijking van ledematen bot morfologie CANDIDATE -en nl HP:0002813 IAO:0000115 Any abnormality of bones of the arms or legs Any abnormality of bones of the arms or legs NOT_TRANSLATED -en nl HP:0002814 rdfs:label Abnormality of the lower limb Afwijking van de onderste extremiteit CANDIDATE -en nl HP:0002814 IAO:0000115 An abnormality of the leg An abnormality of the leg NOT_TRANSLATED -en nl HP:0002815 rdfs:label Abnormality of the knee Afwijking van de knie CANDIDATE -en nl HP:0002815 IAO:0000115 An abnormality of the knee joint or surrounding structures An abnormality of the knee joint or surrounding structures NOT_TRANSLATED -en nl HP:0002816 rdfs:label Genu recurvatum Genu recurvatum CANDIDATE -en nl HP:0002816 IAO:0000115 An abnormally increased extension of the knee joint, so that the knee can bend backwards An abnormally increased extension of the knee joint, so that the knee can bend backwards NOT_TRANSLATED -en nl HP:0002817 rdfs:label Abnormality of the upper limb Afwijking van de bovenste extremiteit CANDIDATE -en nl HP:0002817 IAO:0000115 An abnormality of the arm An abnormality of the arm NOT_TRANSLATED -en nl HP:0002818 rdfs:label Abnormal morphology of the radius Afwijking van de radius CANDIDATE -en nl HP:0002818 IAO:0000115 An abnormality of the radius An abnormality of the radius NOT_TRANSLATED -en nl HP:0002821 rdfs:label Neuropathic arthropathy Neuropathische artropathie CANDIDATE -en nl HP:0002822 rdfs:label Hyperplasia of the femoral trochanters Hyperplasie van de femorale trochanters CANDIDATE -en nl HP:0002823 rdfs:label Abnormality of femur morphology Afwijking van femur morfologie CANDIDATE -en nl HP:0002823 IAO:0000115 Any anomaly of the structure of the femur Any anomaly of the structure of the femur NOT_TRANSLATED -en nl HP:0002825 rdfs:label Caudal appendage Caudaal aanhangsel CANDIDATE -en nl HP:0002825 IAO:0000115 The presence of a tail-like skin appendage located adjacent to the sacrum The presence of a tail-like skin appendage located adjacent to the sacrum NOT_TRANSLATED -en nl HP:0002826 rdfs:label Halberd-shaped pelvis Halberd-vormig bekken CANDIDATE -en nl HP:0002826 IAO:0000115 An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle) An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle) NOT_TRANSLATED -en nl HP:0002827 rdfs:label Hip dislocation Heup dislocatie CANDIDATE -en nl HP:0002827 IAO:0000115 Displacement of the femur from its normal location in the hip joint Displacement of the femur from its normal location in the hip joint NOT_TRANSLATED -en nl HP:0002828 rdfs:label Multiple joint contractures Contracturen van multipele gewrichten CANDIDATE -en nl HP:0002829 rdfs:label Arthralgia Artralgie CANDIDATE -en nl HP:0002829 IAO:0000115 Joint pain Joint pain NOT_TRANSLATED -en nl HP:0002831 rdfs:label Long coccyx Lang coccyx CANDIDATE -en nl HP:0002832 rdfs:label Calcific stippling Vlekkerige calcificatie CANDIDATE -en nl HP:0002832 IAO:0000115 An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs) An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs) NOT_TRANSLATED -en nl HP:0002833 rdfs:label Cystic angiomatosis of bone Cysteuze angiomatose van bot CANDIDATE -en nl HP:0002833 IAO:0000115 Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping NOT_TRANSLATED -en nl HP:0002834 rdfs:label Flared femoral metaphysis Flared femoral metaphysis NOT_TRANSLATED -en nl HP:0002835 rdfs:label Aspiration Aspiratie CANDIDATE -en nl HP:0002835 IAO:0000115 Inspiration of a foreign object into the airway Inspiration of a foreign object into the airway NOT_TRANSLATED -en nl HP:0002836 rdfs:label Bladder exstrophy Blaasexstrofie CANDIDATE -en nl HP:0002836 IAO:0000115 Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall NOT_TRANSLATED -en nl HP:0002837 rdfs:label Recurrent bronchitis Recidiverende bronchitis CANDIDATE -en nl HP:0002837 IAO:0000115 An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis NOT_TRANSLATED -en nl HP:0002839 rdfs:label Urinary bladder sphincter dysfunction Urineblaas sfincter dysfunctie CANDIDATE -en nl HP:0002839 IAO:0000115 Abnormal function of a sphincter of the urinary bladder Abnormal function of a sphincter of the urinary bladder NOT_TRANSLATED -en nl HP:0002840 rdfs:label Lymphadenitis Lymfadenitis CANDIDATE -en nl HP:0002840 IAO:0000115 Inflammation of a lymph node Inflammation of a lymph node NOT_TRANSLATED -en nl HP:0002841 rdfs:label Recurrent fungal infections Recidiverende schimmel-infecties CANDIDATE -en nl HP:0002841 IAO:0000115 Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection NOT_TRANSLATED -en nl HP:0002842 rdfs:label Recurrent Burkholderia cepacia infections Recidiverende Burkholderia cepacia infecties CANDIDATE -en nl HP:0002842 IAO:0000115 Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent NOT_TRANSLATED -en nl HP:0002843 rdfs:label Abnormal T cell morphology Abnormale T cel morfologie CANDIDATE -en nl HP:0002843 IAO:0000115 An abnormality of T cells An abnormality of T cells NOT_TRANSLATED -en nl HP:0002846 rdfs:label Abnormal B cell morphology Abnormale B cel morfologie CANDIDATE -en nl HP:0002846 IAO:0000115 A structural abnormality of B cells A structural abnormality of B cells NOT_TRANSLATED -en nl HP:0002847 rdfs:label Impaired memory B cell generation Verminderde geheugen B-cel productie CANDIDATE -en nl HP:0002847 IAO:0000115 Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge NOT_TRANSLATED -en nl HP:0002848 rdfs:label Decreased specific anti-polysaccharide antibody level Specifieke anti-polysaccharide antistof deficiëntie CANDIDATE -en nl HP:0002848 IAO:0000115 The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides NOT_TRANSLATED -en nl HP:0002849 rdfs:label Absence of lymph node germinal center Afwezigheid van lymfeklier kiemcentrum CANDIDATE -en nl HP:0002849 IAO:0000115 Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses NOT_TRANSLATED -en nl HP:0002850 rdfs:label Decreased circulating total IgM IgM-deficiëntie CANDIDATE -en nl HP:0002850 IAO:0000115 An abnormally decreased level of immunoglobulin M (IgM) in blood An abnormally decreased level of immunoglobulin M (IgM) in blood NOT_TRANSLATED -en nl HP:0002851 rdfs:label Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Verhoogd aantal CD4-negatieve, CD8-negatieve, alpha-beta regulatoire T-cellen CANDIDATE -en nl HP:0002851 IAO:0000115 An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells NOT_TRANSLATED -en nl HP:0002853 rdfs:label Increased proportion of HLA DR+ T cells Toegenomen aantal van HLA DR + T cellen CANDIDATE -en nl HP:0002853 IAO:0000115 An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation NOT_TRANSLATED -en nl HP:0002857 rdfs:label Genu valgum Genu valgum CANDIDATE -en nl HP:0002857 IAO:0000115 The legs angle inward, such that the knees are close together and the ankles far apart The legs angle inward, such that the knees are close together and the ankles far apart NOT_TRANSLATED -en nl HP:0002858 rdfs:label Meningioma Meningeoom CANDIDATE -en nl HP:0002858 IAO:0000115 The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater NOT_TRANSLATED -en nl HP:0002859 rdfs:label Rhabdomyosarcoma Rhabdomyosarcoom CANDIDATE -en nl HP:0002860 rdfs:label Squamous cell carcinoma Plaveiselcelcarcinoom CANDIDATE -en nl HP:0002860 IAO:0000115 The presence of squamous cell carcinoma of the skin The presence of squamous cell carcinoma of the skin NOT_TRANSLATED -en nl HP:0002861 rdfs:label Melanoma Melanoom CANDIDATE -en nl HP:0002861 IAO:0000115 The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea) The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea) NOT_TRANSLATED -en nl HP:0002862 rdfs:label Bladder carcinoma Blaas carcinoom CANDIDATE -en nl HP:0002862 IAO:0000115 The presence of a carcinoma of the urinary bladder The presence of a carcinoma of the urinary bladder NOT_TRANSLATED -en nl HP:0002863 rdfs:label Myelodysplasia Myelodysplasie CANDIDATE -en nl HP:0002863 IAO:0000115 Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia NOT_TRANSLATED -en nl HP:0002864 rdfs:label Paraganglioma of head and neck Paraganglioom van hoofd en nek CANDIDATE -en nl HP:0002865 rdfs:label Medullary thyroid carcinoma Medullair schildklier carcinoom CANDIDATE -en nl HP:0002865 IAO:0000115 The presence of a medullary carcinoma of the thyroid gland The presence of a medullary carcinoma of the thyroid gland NOT_TRANSLATED -en nl HP:0002866 rdfs:label Hypoplastic iliac wing Hypoplastisch ala ossis ilium CANDIDATE -en nl HP:0002866 IAO:0000115 Underdevelopment of the ilium ala Underdevelopment of the ilium ala NOT_TRANSLATED -en nl HP:0002867 rdfs:label Abnormal ilium morphology Afwijking van het ilium CANDIDATE -en nl HP:0002867 IAO:0000115 An abnormality of the ilium, the largest and uppermost bone of the pelvis An abnormality of the ilium, the largest and uppermost bone of the pelvis NOT_TRANSLATED -en nl HP:0002868 rdfs:label Narrow iliac wing Small ala ossis ilium CANDIDATE -en nl HP:0002868 IAO:0000115 Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) NOT_TRANSLATED -en nl HP:0002869 rdfs:label Flared iliac wing Flared iliac wing NOT_TRANSLATED -en nl HP:0002869 IAO:0000115 Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing NOT_TRANSLATED -en nl HP:0002870 rdfs:label Obstructive sleep apnea Obstructieve slaap apneu CANDIDATE -en nl HP:0002870 IAO:0000115 A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow NOT_TRANSLATED -en nl HP:0002871 rdfs:label Central apnea Centrale apnoe CANDIDATE -en nl HP:0002871 IAO:0000115 Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow NOT_TRANSLATED -en nl HP:0002872 rdfs:label Apneic episodes precipitated by illness, fatigue, stress Episodes van apnoe, voorafgegaan door ziekte, vermoeidheid, stress CANDIDATE -en nl HP:0002872 IAO:0000115 Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress NOT_TRANSLATED -en nl HP:0002875 rdfs:label Exertional dyspnea Inspanningsdyspnoe CANDIDATE -en nl HP:0002875 IAO:0000115 Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest NOT_TRANSLATED -en nl HP:0002876 rdfs:label Episodic tachypnea Episodische tachypnoe CANDIDATE -en nl HP:0002876 IAO:0000115 Episodes of very rapid breathing Episodes of very rapid breathing NOT_TRANSLATED -en nl HP:0002877 rdfs:label Nocturnal hypoventilation Nachtelijke hypoventilatie CANDIDATE -en nl HP:0002877 IAO:0000115 An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide NOT_TRANSLATED -en nl HP:0002878 rdfs:label Respiratory failure Respiratoire insufficiëntie CANDIDATE -en nl HP:0002878 IAO:0000115 A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits NOT_TRANSLATED -en nl HP:0002879 rdfs:label Anisospondyly Anisospondylie CANDIDATE -en nl HP:0002879 IAO:0000115 Abnormally increased variability of the size of the vertebral bodies Abnormally increased variability of the size of the vertebral bodies NOT_TRANSLATED -en nl HP:0002882 rdfs:label Sudden episodic apnea Plotselinge episodische apneus CANDIDATE -en nl HP:0002882 IAO:0000115 Recurrent bouts of sudden, severe apnea that may be life-threatening Recurrent bouts of sudden, severe apnea that may be life-threatening NOT_TRANSLATED -en nl HP:0002883 rdfs:label Hyperventilation Hyperventilatie CANDIDATE -en nl HP:0002883 IAO:0000115 Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide NOT_TRANSLATED -en nl HP:0002884 rdfs:label Hepatoblastoma Hepatoblastoom CANDIDATE -en nl HP:0002884 IAO:0000115 A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts NOT_TRANSLATED -en nl HP:0002885 rdfs:label Medulloblastoma Medulloblastoom CANDIDATE -en nl HP:0002885 IAO:0000115 A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults NOT_TRANSLATED -en nl HP:0002886 rdfs:label Vagal paraganglioma Vagaal paraganglioom CANDIDATE -en nl HP:0002886 IAO:0000115 A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve NOT_TRANSLATED -en nl HP:0002888 rdfs:label Ependymoma Ependymoom CANDIDATE -en nl HP:0002888 IAO:0000115 The presence of an ependymoma of the central nervous system The presence of an ependymoma of the central nervous system NOT_TRANSLATED -en nl HP:0002890 rdfs:label Thyroid carcinoma Schildklier carcinoom CANDIDATE -en nl HP:0002890 IAO:0000115 The presence of a carcinoma of the thyroid gland The presence of a carcinoma of the thyroid gland NOT_TRANSLATED -en nl HP:0002891 rdfs:label Uterine leiomyosarcoma Uterien leiomyosarcoom CANDIDATE -en nl HP:0002891 IAO:0000115 The presence of a leiomyosarcoma of the uterus The presence of a leiomyosarcoma of the uterus NOT_TRANSLATED -en nl HP:0002893 rdfs:label Pituitary adenoma Hypofyse adenoom CANDIDATE -en nl HP:0002893 IAO:0000115 A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary) A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary) NOT_TRANSLATED -en nl HP:0002894 rdfs:label Neoplasm of the pancreas Neoplasma van de pancreas CANDIDATE -en nl HP:0002894 IAO:0000115 A tumor (abnormal growth of tissue) of the pancreas A tumor (abnormal growth of tissue) of the pancreas NOT_TRANSLATED -en nl HP:0002895 rdfs:label Papillary thyroid carcinoma Papillair schildklier carcinoom CANDIDATE -en nl HP:0002895 IAO:0000115 The presence of a papillary adenocarcinoma of the thyroid gland The presence of a papillary adenocarcinoma of the thyroid gland NOT_TRANSLATED -en nl HP:0002896 rdfs:label Neoplasm of the liver Neoplasma van de lever CANDIDATE -en nl HP:0002896 IAO:0000115 A tumor (abnormal growth of tissue) of the liver A tumor (abnormal growth of tissue) of the liver NOT_TRANSLATED -en nl HP:0002897 rdfs:label Parathyroid adenoma Parathyroid adenoom CANDIDATE -en nl HP:0002897 IAO:0000115 A benign tumor of the parathyroid gland that can cause hyperparathyroidism A benign tumor of the parathyroid gland that can cause hyperparathyroidism NOT_TRANSLATED -en nl HP:0002898 rdfs:label Embryonal neoplasm Embryonaal neoplasma CANDIDATE -en nl HP:0002900 rdfs:label Hypokalemia Hypokalemie CANDIDATE -en nl HP:0002900 IAO:0000115 An abnormally decreased potassium concentration in the blood An abnormally decreased potassium concentration in the blood NOT_TRANSLATED -en nl HP:0002901 rdfs:label Hypocalcemia Hypocalcemie CANDIDATE -en nl HP:0002901 IAO:0000115 An abnormally decreased calcium concentration in the blood An abnormally decreased calcium concentration in the blood NOT_TRANSLATED -en nl HP:0002902 rdfs:label Hyponatremia Hyponatremie CANDIDATE -en nl HP:0002902 IAO:0000115 An abnormally decreased sodium concentration in the blood An abnormally decreased sodium concentration in the blood NOT_TRANSLATED -en nl HP:0002904 rdfs:label Hyperbilirubinemia Hyperbilirubinemie CANDIDATE -en nl HP:0002904 IAO:0000115 An increased amount of bilirubin in the blood An increased amount of bilirubin in the blood NOT_TRANSLATED -en nl HP:0002905 rdfs:label Hyperphosphatemia Hyperphosphatemie CANDIDATE -en nl HP:0002905 IAO:0000115 An abnormally increased phosphate concentration in the blood An abnormally increased phosphate concentration in the blood NOT_TRANSLATED -en nl HP:0002907 rdfs:label Microscopic hematuria Microscopische hematurie CANDIDATE -en nl HP:0002907 IAO:0000115 Microscopic hematuria detected by dipstick or microscopic examination of the urine Microscopic hematuria detected by dipstick or microscopic examination of the urine NOT_TRANSLATED -en nl HP:0002908 rdfs:label Conjugated hyperbilirubinemia Geconjugeerde hyperbilirubinemie CANDIDATE -en nl HP:0002909 rdfs:label Generalized aminoaciduria Gegeneraliseerde aminoacidurie CANDIDATE -en nl HP:0002909 IAO:0000115 An increased concentration of all types of amino acid in the urine An increased concentration of all types of amino acid in the urine NOT_TRANSLATED -en nl HP:0002910 rdfs:label Elevated hepatic transaminase Verhoogde hepatische transaminases CANDIDATE -en nl HP:0002910 IAO:0000115 Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage NOT_TRANSLATED -en nl HP:0002912 rdfs:label Methylmalonic acidemia Methylmalonacidurie CANDIDATE -en nl HP:0002912 IAO:0000115 Increased concentration of methylmalonic acid in the blood Increased concentration of methylmalonic acid in the blood NOT_TRANSLATED -en nl HP:0002913 rdfs:label Myoglobinuria Myoglobinurie CANDIDATE -en nl HP:0002913 IAO:0000115 Presence of myoglobin in the urine Presence of myoglobin in the urine NOT_TRANSLATED -en nl HP:0002914 rdfs:label Hyperchloriduria Hyperchloridurie CANDIDATE -en nl HP:0002914 IAO:0000115 An increased concentration of chloride in the urine An increased concentration of chloride in the urine NOT_TRANSLATED -en nl HP:0002916 rdfs:label Abnormality of chromosome segregation Afwijking van chromosoom segregatie CANDIDATE -en nl HP:0002916 IAO:0000115 An abnormality of chromosome segregation An abnormality of chromosome segregation NOT_TRANSLATED -en nl HP:0002917 rdfs:label Hypomagnesemia Hypomagnesemie CANDIDATE -en nl HP:0002917 IAO:0000115 An abnormally decreased magnesium concentration in the blood An abnormally decreased magnesium concentration in the blood NOT_TRANSLATED -en nl HP:0002918 rdfs:label Hypermagnesemia Hypermagnesemie CANDIDATE -en nl HP:0002918 IAO:0000115 An abnormally increased magnesium concentration in the blood An abnormally increased magnesium concentration in the blood NOT_TRANSLATED -en nl HP:0002919 rdfs:label Ketonuria Ketonurie CANDIDATE -en nl HP:0002919 IAO:0000115 High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state NOT_TRANSLATED -en nl HP:0002920 rdfs:label Decreased circulating ACTH level Afgenomen circulerend ACTH-niveau CANDIDATE -en nl HP:0002920 IAO:0000115 An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood NOT_TRANSLATED -en nl HP:0002921 rdfs:label Abnormal cerebrospinal fluid morphology Afwijking van de liquor CANDIDATE -en nl HP:0002921 IAO:0000115 An abnormality of the cerebrospinal fluid (CSF) An abnormality of the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0002922 rdfs:label Increased CSF protein concentration Verhoogd liquor eiwit CANDIDATE -en nl HP:0002922 IAO:0000115 Increased concentration of protein in the cerebrospinal fluid Increased concentration of protein in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0002923 rdfs:label Rheumatoid factor positive Reumafactor positief CANDIDATE -en nl HP:0002923 IAO:0000115 The presence in the serum of an autoantibody directed against the Fc portion of IgG The presence in the serum of an autoantibody directed against the Fc portion of IgG NOT_TRANSLATED -en nl HP:0002925 rdfs:label Elevated circulating thyroid-stimulating hormone concentration Toegenomen TSH niveau CANDIDATE -en nl HP:0002925 IAO:0000115 Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation NOT_TRANSLATED -en nl HP:0002926 rdfs:label Abnormality of thyroid physiology Afwijking van schildklier fysiologie CANDIDATE -en nl HP:0002926 IAO:0000115 An abnormal functionality of the thyroid gland An abnormal functionality of the thyroid gland NOT_TRANSLATED -en nl HP:0002927 rdfs:label Histidinuria Histidinemie CANDIDATE -en nl HP:0002927 IAO:0000115 An increased concentration of histidine in the urine An increased concentration of histidine in the urine NOT_TRANSLATED -en nl HP:0002928 rdfs:label Decreased activity of the pyruvate dehydrogenase complex Verminderde activiteit van het pyruvaat dehydrogenase complex CANDIDATE -en nl HP:0002929 rdfs:label Leydig cell insensitivity to gonadotropin Leydig cellen insensiviteit voor gonadotropine CANDIDATE -en nl HP:0002930 rdfs:label Impaired sensitivity to thyroid hormone Schildklier hormoon receptor defect CANDIDATE -en nl HP:0002930 IAO:0000115 Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone NOT_TRANSLATED -en nl HP:0002932 rdfs:label Aldehyde oxidase deficiency Aldehyde oxidase deficiëntie CANDIDATE -en nl HP:0002932 IAO:0000115 A reduction in aldehyde oxidase level A reduction in aldehyde oxidase level NOT_TRANSLATED -en nl HP:0002933 rdfs:label Ventral hernia Ventrale hernia CANDIDATE -en nl HP:0002933 IAO:0000115 Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall NOT_TRANSLATED -en nl HP:0002936 rdfs:label Distal sensory impairment Distale sensorische verslechtering CANDIDATE -en nl HP:0002936 IAO:0000115 An abnormal reduction in sensation in the distal portions of the extremities An abnormal reduction in sensation in the distal portions of the extremities NOT_TRANSLATED -en nl HP:0002937 rdfs:label Hemivertebrae Hemivertebrae CANDIDATE -en nl HP:0002937 IAO:0000115 Absence of one half of the vertebral body Absence of one half of the vertebral body NOT_TRANSLATED -en nl HP:0002938 rdfs:label Lumbar hyperlordosis Lumbale hyperlordose CANDIDATE -en nl HP:0002938 IAO:0000115 An abnormal accentuation of the inward curvature of the spine in the lumbar region An abnormal accentuation of the inward curvature of the spine in the lumbar region NOT_TRANSLATED -en nl HP:0002942 rdfs:label Thoracic kyphosis Thoracale kyfose CANDIDATE -en nl HP:0002942 IAO:0000115 Over curvature of the thoracic region, leading to a round back or if sever to a hump Over curvature of the thoracic region, leading to a round back or if sever to a hump NOT_TRANSLATED -en nl HP:0002943 rdfs:label Thoracic scoliosis Thoracale scoliose CANDIDATE -en nl HP:0002944 rdfs:label Thoracolumbar scoliosis Thoracolumbale scoliose CANDIDATE -en nl HP:0002945 rdfs:label Intervertebral space narrowing Versmalling van intervertebrale ruimte CANDIDATE -en nl HP:0002945 IAO:0000115 Decreased height of the intervertebral disk Decreased height of the intervertebral disk NOT_TRANSLATED -en nl HP:0002946 rdfs:label Supernumerary vertebrae Extra vertebrae CANDIDATE -en nl HP:0002947 rdfs:label Cervical kyphosis Cervicale kyfose CANDIDATE -en nl HP:0002947 IAO:0000115 Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance NOT_TRANSLATED -en nl HP:0002948 rdfs:label Vertebral fusion Vertebrale fusie CANDIDATE -en nl HP:0002948 IAO:0000115 A developmental defect leading to the union of two adjacent vertebrae A developmental defect leading to the union of two adjacent vertebrae NOT_TRANSLATED -en nl HP:0002949 rdfs:label Fused cervical vertebrae Gefuseerde vervicale wervels CANDIDATE -en nl HP:0002949 IAO:0000115 A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another NOT_TRANSLATED -en nl HP:0002951 rdfs:label Partial absence of cerebellar vermis Partiële afwezigheid van de vermis CANDIDATE -en nl HP:0002951 IAO:0000115 Congenital absence of a part of the vermis of cerebellum Congenital absence of a part of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0002953 rdfs:label Vertebral compression fracture Vertebrale compressie fracturen CANDIDATE -en nl HP:0002955 rdfs:label Granulomatosis Granulomatose CANDIDATE -en nl HP:0002955 IAO:0000115 A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity NOT_TRANSLATED -en nl HP:0002958 rdfs:label Immune dysregulation Immuundysregulatie CANDIDATE -en nl HP:0002958 IAO:0000115 Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications NOT_TRANSLATED -en nl HP:0002959 rdfs:label Impaired Ig class switch recombination Verminderde Ig class switch recombinatie CANDIDATE -en nl HP:0002959 IAO:0000115 An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE NOT_TRANSLATED -en nl HP:0002960 rdfs:label Autoimmunity Autoimmuniteit CANDIDATE -en nl HP:0002960 IAO:0000115 The occurrence of an immune reaction against the organism's own cells or tissues The occurrence of an immune reaction against the organism's own cells or tissues NOT_TRANSLATED -en nl HP:0002961 rdfs:label Dysgammaglobulinemia Dysgammaglobulinemie CANDIDATE -en nl HP:0002961 IAO:0000115 Selective deficiency of one or more, but not all, classes of immunoglobulins Selective deficiency of one or more, but not all, classes of immunoglobulins NOT_TRANSLATED -en nl HP:0002963 rdfs:label Abnormal delayed hypersensitivity skin test Abnormaal vertraagde overgevoeligheid huidtest CANDIDATE -en nl HP:0002963 IAO:0000115 Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter NOT_TRANSLATED -en nl HP:0002965 rdfs:label Cutaneous anergy Cutane anergie CANDIDATE -en nl HP:0002965 IAO:0000115 Inability to react to a delayed hypersensitivity skin test Inability to react to a delayed hypersensitivity skin test NOT_TRANSLATED -en nl HP:0002967 rdfs:label Cubitus valgus Cubitus valgus CANDIDATE -en nl HP:0002967 IAO:0000115 Abnormal positioning in which the elbows are turned out Abnormal positioning in which the elbows are turned out NOT_TRANSLATED -en nl HP:0002970 rdfs:label Genu varum Genu varum CANDIDATE -en nl HP:0002970 IAO:0000115 A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together NOT_TRANSLATED -en nl HP:0002971 rdfs:label Absent microvilli on the surface of peripheral blood lymphocytes Afwezige microvilli op het oppervlak van lymfocyten in perifeer bloed CANDIDATE -en nl HP:0002971 IAO:0000115 Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes NOT_TRANSLATED -en nl HP:0002972 rdfs:label Reduced delayed hypersensitivity Verminderde vertraagde overgevoeligheid CANDIDATE -en nl HP:0002972 IAO:0000115 Decreased ability to react to a delayed hypersensitivity skin test Decreased ability to react to a delayed hypersensitivity skin test NOT_TRANSLATED -en nl HP:0002973 rdfs:label Abnormal forearm morphology Afwijking van de onderarm CANDIDATE -en nl HP:0002973 IAO:0000115 An abnormality of the lower arm An abnormality of the lower arm NOT_TRANSLATED -en nl HP:0002974 rdfs:label Radioulnar synostosis Radioulnaire synostose CANDIDATE -en nl HP:0002974 IAO:0000115 An abnormal osseous union (fusion) between the radius and the ulna An abnormal osseous union (fusion) between the radius and the ulna NOT_TRANSLATED -en nl HP:0002977 rdfs:label Aplasia/Hypoplasia involving the central nervous system Aplasia/hypoplasie waarbij het centrale zenuwstelsel betrokken is CANDIDATE -en nl HP:0002977 IAO:0000115 Absence or underdevelopment of tissue in the central nervous system Absence or underdevelopment of tissue in the central nervous system NOT_TRANSLATED -en nl HP:0002979 rdfs:label Bowing of the legs Bowing van de benen CANDIDATE -en nl HP:0002979 IAO:0000115 A bending or abnormal curvature affecting a long bone of the leg A bending or abnormal curvature affecting a long bone of the leg NOT_TRANSLATED -en nl HP:0002980 rdfs:label Femoral bowing Bowing van de femur CANDIDATE -en nl HP:0002980 IAO:0000115 Bowing (abnormal curvature) of the femur Bowing (abnormal curvature) of the femur NOT_TRANSLATED -en nl HP:0002981 rdfs:label Abnormality of the calf Afwijking van de kuit CANDIDATE -en nl HP:0002981 IAO:0000115 An abnormality of the calf, i.e. of the posterior part of the lower leg An abnormality of the calf, i.e. of the posterior part of the lower leg NOT_TRANSLATED -en nl HP:0002982 rdfs:label Tibial bowing Buiging van de tibia CANDIDATE -en nl HP:0002982 IAO:0000115 A bending or abnormal curvature of the tibia A bending or abnormal curvature of the tibia NOT_TRANSLATED -en nl HP:0002983 rdfs:label Micromelia Micromelie CANDIDATE -en nl HP:0002983 IAO:0000115 The presence of abnormally small extremities The presence of abnormally small extremities NOT_TRANSLATED -en nl HP:0002984 rdfs:label Hypoplasia of the radius Hypoplasie van de radius CANDIDATE -en nl HP:0002984 IAO:0000115 Underdevelopment of the radius Underdevelopment of the radius NOT_TRANSLATED -en nl HP:0002986 rdfs:label Radial bowing Bowing van de radius CANDIDATE -en nl HP:0002986 IAO:0000115 A bending or abnormal curvature of the radius A bending or abnormal curvature of the radius NOT_TRANSLATED -en nl HP:0002987 rdfs:label Elbow flexion contracture Elleboog flexiecontractuur CANDIDATE -en nl HP:0002987 IAO:0000115 An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position NOT_TRANSLATED -en nl HP:0002990 rdfs:label Fibular aplasia Fibulaire aplasie CANDIDATE -en nl HP:0002990 IAO:0000115 Absence of the fibula Absence of the fibula NOT_TRANSLATED -en nl HP:0002991 rdfs:label Abnormality of fibula morphology Afwijking van fibula morfologie CANDIDATE -en nl HP:0002991 IAO:0000115 An anomaly of the calf bone (fibula), one of the two bones of the calf An anomaly of the calf bone (fibula), one of the two bones of the calf NOT_TRANSLATED -en nl HP:0002992 rdfs:label Abnormality of tibia morphology Afwijking van tibia morfologie CANDIDATE -en nl HP:0002992 IAO:0000115 Abnormality of the tibia (shinbone) Abnormality of the tibia (shinbone) NOT_TRANSLATED -en nl HP:0002996 rdfs:label Limited elbow movement Beperkte elleboogbeweging CANDIDATE -en nl HP:0002999 rdfs:label Patellar dislocation Patellaire dislocatie CANDIDATE -en nl HP:0002999 IAO:0000115 The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove NOT_TRANSLATED -en nl HP:0003001 rdfs:label Glomus jugular tumor Glomus jugulare tumor CANDIDATE -en nl HP:0003002 rdfs:label Breast carcinoma Mammacarcinoom CANDIDATE -en nl HP:0003002 IAO:0000115 The presence of a carcinoma of the breast The presence of a carcinoma of the breast NOT_TRANSLATED -en nl HP:0003003 rdfs:label Colon cancer Darmkanker CANDIDATE -en nl HP:0003005 rdfs:label Ganglioneuroma Ganglioneuroom CANDIDATE -en nl HP:0003005 IAO:0000115 A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells NOT_TRANSLATED -en nl HP:0003006 rdfs:label Neuroblastoma Neuroblastoom CANDIDATE -en nl HP:0003006 IAO:0000115 Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum NOT_TRANSLATED -en nl HP:0003009 rdfs:label Enhanced neurotoxicity of vincristine Verhoogde neurotoxiciteit van vincristine CANDIDATE -en nl HP:0003010 rdfs:label Prolonged bleeding time Verlengde bloedingstijd CANDIDATE -en nl HP:0003010 IAO:0000115 Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding NOT_TRANSLATED -en nl HP:0003011 rdfs:label Abnormality of the musculature Afwijking van de musculatuur CANDIDATE -en nl HP:0003011 IAO:0000115 Abnormality originating in one or more muscles, i.e., of the set of muscles of body Abnormality originating in one or more muscles, i.e., of the set of muscles of body NOT_TRANSLATED -en nl HP:0003013 rdfs:label Bulging epiphyses Uitpuilende epifysen CANDIDATE -en nl HP:0003013 IAO:0000115 A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant) A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant) NOT_TRANSLATED -en nl HP:0003015 rdfs:label Flared metaphysis Gespreide metafyse CANDIDATE -en nl HP:0003015 IAO:0000115 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones NOT_TRANSLATED -en nl HP:0003016 rdfs:label Metaphyseal widening Metafysaire verbreding CANDIDATE -en nl HP:0003016 IAO:0000115 Abnormal widening of the metaphyseal regions of long bones Abnormal widening of the metaphyseal regions of long bones NOT_TRANSLATED -en nl HP:0003019 rdfs:label Abnormality of the wrist Afwijking van de pols CANDIDATE -en nl HP:0003019 IAO:0000115 Abnormality of the wrist, the structure connecting the hand and the forearm Abnormality of the wrist, the structure connecting the hand and the forearm NOT_TRANSLATED -en nl HP:0003020 rdfs:label Enlargement of the wrists Vergroting van de pols CANDIDATE -en nl HP:0003021 rdfs:label Metaphyseal cupping Metaphyseal cupping NOT_TRANSLATED -en nl HP:0003021 IAO:0000115 Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance NOT_TRANSLATED -en nl HP:0003022 rdfs:label Hypoplasia of the ulna Hypoplasie van de ulna CANDIDATE -en nl HP:0003022 IAO:0000115 Underdevelopment of the ulna Underdevelopment of the ulna NOT_TRANSLATED -en nl HP:0003023 rdfs:label Bowing of limbs due to multiple fractures Bowing van ledematen vanwege multipele fracturen CANDIDATE -en nl HP:0003023 IAO:0000115 Curvature of the shafts of the long bones due to multiple fractures Curvature of the shafts of the long bones due to multiple fractures NOT_TRANSLATED -en nl HP:0003025 rdfs:label Metaphyseal irregularity Metafysaire irregulariteit CANDIDATE -en nl HP:0003025 IAO:0000115 Irregularity of the normally smooth surface of the metaphyses Irregularity of the normally smooth surface of the metaphyses NOT_TRANSLATED -en nl HP:0003026 rdfs:label Short long bone Kort lang bot CANDIDATE -en nl HP:0003026 IAO:0000115 One or more abnormally short long bone One or more abnormally short long bone NOT_TRANSLATED -en nl HP:0003027 rdfs:label Mesomelia Mesomelie CANDIDATE -en nl HP:0003027 IAO:0000115 Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments NOT_TRANSLATED -en nl HP:0003028 rdfs:label Abnormality of the ankles Afwijking van de enkels CANDIDATE -en nl HP:0003029 rdfs:label Enlargement of the ankles Vergroting van de enkels CANDIDATE -en nl HP:0003031 rdfs:label Ulnar bowing Bowing van ulna CANDIDATE -en nl HP:0003031 IAO:0000115 Bending of the diaphysis (shaft) of the ulna Bending of the diaphysis (shaft) of the ulna NOT_TRANSLATED -en nl HP:0003034 rdfs:label Diaphyseal sclerosis Diafysaire sclerose CANDIDATE -en nl HP:0003034 IAO:0000115 An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0003037 rdfs:label Enlarged joints Vergrote gewrichten CANDIDATE -en nl HP:0003037 IAO:0000115 Increase in size of one or more joints Increase in size of one or more joints NOT_TRANSLATED -en nl HP:0003038 rdfs:label Fibular hypoplasia Fibulaire hypoplasie CANDIDATE -en nl HP:0003038 IAO:0000115 Underdevelopment of the fibula Underdevelopment of the fibula NOT_TRANSLATED -en nl HP:0003040 rdfs:label Arthropathy Artropathie CANDIDATE -en nl HP:0003041 rdfs:label Humeroradial synostosis Humeroradiale synostose CANDIDATE -en nl HP:0003041 IAO:0000115 An abnormal osseous union (fusion) between the radius and the humerus An abnormal osseous union (fusion) between the radius and the humerus NOT_TRANSLATED -en nl HP:0003042 rdfs:label Elbow dislocation Elleboog dislocatie CANDIDATE -en nl HP:0003042 IAO:0000115 Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet NOT_TRANSLATED -en nl HP:0003043 rdfs:label Abnormal shoulder morphology Afwijking van de schouder CANDIDATE -en nl HP:0003043 IAO:0000115 An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula NOT_TRANSLATED -en nl HP:0003044 rdfs:label Shoulder flexion contracture Schouder flexiecontractuur CANDIDATE -en nl HP:0003044 IAO:0000115 Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED -en nl HP:0003045 rdfs:label Abnormal patella morphology Afwijking van de patella CANDIDATE -en nl HP:0003045 IAO:0000115 Abnormality of the patella (knee cap) Abnormality of the patella (knee cap) NOT_TRANSLATED -en nl HP:0003048 rdfs:label Radial head subluxation Subluxatie van de het radiuskopje CANDIDATE -en nl HP:0003048 IAO:0000115 Partial dislocation of the head of the radius Partial dislocation of the head of the radius NOT_TRANSLATED -en nl HP:0003049 rdfs:label Ulnar deviation of the wrist Ulnaire deviatie van de pols CANDIDATE -en nl HP:0003051 rdfs:label Enlarged metaphyses Vergrote metafyses CANDIDATE -en nl HP:0003051 IAO:0000115 Abnormal increase in size of one or more metaphyses Abnormal increase in size of one or more metaphyses NOT_TRANSLATED -en nl HP:0003053 rdfs:label Epiphyseal deformities of tubular bones Epifysaire deformiteiten van de pijpbeenderen CANDIDATE -en nl HP:0003057 rdfs:label Tetraamelia Tetra-amelie CANDIDATE -en nl HP:0003057 IAO:0000115 Amelia of all four limbs Amelia of all four limbs NOT_TRANSLATED -en nl HP:0003059 rdfs:label Abnormality of the radioulnar joints Afwijking van de radioulnaire gewrichten CANDIDATE -en nl HP:0003063 rdfs:label Abnormality of the humerus Afwijking van de humerus CANDIDATE -en nl HP:0003063 IAO:0000115 An abnormality of the humerus (i.e., upper arm bone) An abnormality of the humerus (i.e., upper arm bone) NOT_TRANSLATED -en nl HP:0003065 rdfs:label Patellar hypoplasia Patellaire hypoplasie CANDIDATE -en nl HP:0003065 IAO:0000115 Underdevelopment of the patella Underdevelopment of the patella NOT_TRANSLATED -en nl HP:0003066 rdfs:label Limited knee extension Beperkte knieextensie CANDIDATE -en nl HP:0003066 IAO:0000115 Reduced ability to extend (straighten) the knee joint Reduced ability to extend (straighten) the knee joint NOT_TRANSLATED -en nl HP:0003067 rdfs:label Madelung deformity Madelung deformiteit CANDIDATE -en nl HP:0003067 IAO:0000115 An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna NOT_TRANSLATED -en nl HP:0003068 rdfs:label Madelung-like forearm deformities Madelung-achtige onderarm deformiteiten CANDIDATE -en nl HP:0003070 rdfs:label Elbow ankylosis Ankylose van de elleboog CANDIDATE -en nl HP:0003071 rdfs:label Flattened epiphysis Afgevlakte epifyse CANDIDATE -en nl HP:0003071 IAO:0000115 Abnormal flatness (decreased height) of epiphyses Abnormal flatness (decreased height) of epiphyses NOT_TRANSLATED -en nl HP:0003072 rdfs:label Hypercalcemia Hypercalciëmie CANDIDATE -en nl HP:0003072 IAO:0000115 An abnormally increased calcium concentration in the blood An abnormally increased calcium concentration in the blood NOT_TRANSLATED -en nl HP:0003073 rdfs:label Hypoalbuminemia Hypoalbuminemie CANDIDATE -en nl HP:0003073 IAO:0000115 Reduction in the concentration of albumin in the blood Reduction in the concentration of albumin in the blood NOT_TRANSLATED -en nl HP:0003074 rdfs:label Hyperglycemia Hyperglykemie CANDIDATE -en nl HP:0003074 IAO:0000115 An increased concentration of glucose in the blood An increased concentration of glucose in the blood NOT_TRANSLATED -en nl HP:0003075 rdfs:label Hypoproteinemia Hypoproteinemie CANDIDATE -en nl HP:0003075 IAO:0000115 A decreased concentration of protein in the blood A decreased concentration of protein in the blood NOT_TRANSLATED -en nl HP:0003076 rdfs:label Glycosuria Glucosurie CANDIDATE -en nl HP:0003076 IAO:0000115 An increased concentration of glucose in the urine An increased concentration of glucose in the urine NOT_TRANSLATED -en nl HP:0003077 rdfs:label Hyperlipidemia Hyperlipidemie CANDIDATE -en nl HP:0003077 IAO:0000115 An elevated lipid concentration in the blood An elevated lipid concentration in the blood NOT_TRANSLATED -en nl HP:0003079 rdfs:label Defective DNA repair after ultraviolet radiation damage Defect DNA herstel na schade door ultraviolette straling CANDIDATE -en nl HP:0003080 rdfs:label Hydroxyprolinuria Hydroxyprolinurie CANDIDATE -en nl HP:0003080 IAO:0000115 An increased concentration of 4-hydroxy-L-proline in the urine An increased concentration of 4-hydroxy-L-proline in the urine NOT_TRANSLATED -en nl HP:0003081 rdfs:label Increased urinary potassium Verhoogd urine kalium CANDIDATE -en nl HP:0003081 IAO:0000115 An increased concentration of potassium(1+) in the urine An increased concentration of potassium(1+) in the urine NOT_TRANSLATED -en nl HP:0003083 rdfs:label Dislocated radial head Ontwricht radiuskopje CANDIDATE -en nl HP:0003083 IAO:0000115 A dislocation of the head of the radius from its socket in the elbow joint A dislocation of the head of the radius from its socket in the elbow joint NOT_TRANSLATED -en nl HP:0003084 rdfs:label Fractures of the long bones Fracturen van de lange botten CANDIDATE -en nl HP:0003084 IAO:0000115 An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna) An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna) NOT_TRANSLATED -en nl HP:0003085 rdfs:label Long fibula Lang fibula CANDIDATE -en nl HP:0003085 IAO:0000115 Disproportionately long fibulae Disproportionately long fibulae NOT_TRANSLATED -en nl HP:0003086 rdfs:label Acromesomelia Acromesomelie CANDIDATE -en nl HP:0003086 IAO:0000115 Small hands and feet Small hands and feet NOT_TRANSLATED -en nl HP:0003088 rdfs:label Premature osteoarthritis Premature osteoarthritis CANDIDATE -en nl HP:0003089 rdfs:label Hamstring contractures Hamstring contracturen CANDIDATE -en nl HP:0003090 rdfs:label Hypoplasia of the capital femoral epiphysis Hypoplasie van de epifyse van de femurkop CANDIDATE -en nl HP:0003090 IAO:0000115 Underdevelopment of the proximal epiphysis of the femur Underdevelopment of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0003091 rdfs:label Trophic limb changes Trofische ledemaat wijzigingen CANDIDATE -en nl HP:0003091 IAO:0000115 Trophic changes occurring in a limb Trophic changes occurring in a limb NOT_TRANSLATED -en nl HP:0003093 rdfs:label Limited hip extension Beperkte heup extensie CANDIDATE -en nl HP:0003093 IAO:0000115 Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward NOT_TRANSLATED -en nl HP:0003095 rdfs:label Septic arthritis Septische artritis CANDIDATE -en nl HP:0003097 rdfs:label Short femur Kort femur CANDIDATE -en nl HP:0003097 IAO:0000115 An abnormal shortening of the femur An abnormal shortening of the femur NOT_TRANSLATED -en nl HP:0003099 rdfs:label Fibular overgrowth Fibulaire overgroei CANDIDATE -en nl HP:0003099 IAO:0000115 Relatively increased growth of the fibula compared to that of the tibia Relatively increased growth of the fibula compared to that of the tibia NOT_TRANSLATED -en nl HP:0003100 rdfs:label Slender long bone Slank lang bot CANDIDATE -en nl HP:0003100 IAO:0000115 Reduced diameter of a long bone Reduced diameter of a long bone NOT_TRANSLATED -en nl HP:0003102 rdfs:label Increased carrying angle Increased carrying angle NOT_TRANSLATED -en nl HP:0003102 IAO:0000115 An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm NOT_TRANSLATED -en nl HP:0003103 rdfs:label Abnormal cortical bone morphology Abnormale corticaal bot morfologie CANDIDATE -en nl HP:0003103 IAO:0000115 An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones NOT_TRANSLATED -en nl HP:0003105 rdfs:label Protuberances at ends of long bones Knobbels aan uiteinden van lange botten CANDIDATE -en nl HP:0003105 IAO:0000115 The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones NOT_TRANSLATED -en nl HP:0003106 rdfs:label Subperiosteal bone resorption Subperiostale bot resorptie CANDIDATE -en nl HP:0003106 IAO:0000115 Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone NOT_TRANSLATED -en nl HP:0003107 rdfs:label Abnormal circulating cholesterol concentration Afwijking van het metabolisme van cholesterol CANDIDATE -en nl HP:0003107 IAO:0000115 Any deviation from the normal concentration of cholesterol in the blood circulation Any deviation from the normal concentration of cholesterol in the blood circulation NOT_TRANSLATED -en nl HP:0003108 rdfs:label Hyperglycinuria Hyperglycinurie CANDIDATE -en nl HP:0003108 IAO:0000115 An increased concentration of glycine in the urine An increased concentration of glycine in the urine NOT_TRANSLATED -en nl HP:0003109 rdfs:label Hyperphosphaturia Hyperfosfaturie CANDIDATE -en nl HP:0003109 IAO:0000115 An increased excretion of phosphates in the urine An increased excretion of phosphates in the urine NOT_TRANSLATED -en nl HP:0003110 rdfs:label Abnormality of urine homeostasis Afwijking van urine homeostase CANDIDATE -en nl HP:0003110 IAO:0000115 An abnormality of the composition of urine or the levels of its components An abnormality of the composition of urine or the levels of its components NOT_TRANSLATED -en nl HP:0003111 rdfs:label Abnormal blood ion concentration Afwijking in ion homeostase CANDIDATE -en nl HP:0003111 IAO:0000115 Abnormality of the homeostasis (concentration) of a monoatomic ion Abnormality of the homeostasis (concentration) of a monoatomic ion NOT_TRANSLATED -en nl HP:0003112 rdfs:label Abnormal circulating amino acid concentration Afwijking in circulerend aminozuur niveau CANDIDATE -en nl HP:0003112 IAO:0000115 The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation NOT_TRANSLATED -en nl HP:0003113 rdfs:label Hypochloremia Hypochloremie CANDIDATE -en nl HP:0003113 IAO:0000115 An abnormally decreased chloride concentration in the blood An abnormally decreased chloride concentration in the blood NOT_TRANSLATED -en nl HP:0003115 rdfs:label Abnormal EKG Abnormaal ECG CANDIDATE -en nl HP:0003115 IAO:0000115 Abnormal rhythm of the heart Abnormal rhythm of the heart NOT_TRANSLATED -en nl HP:0003117 rdfs:label Abnormal circulating hormone concentration Afwijking van circulerend hormoon niveau CANDIDATE -en nl HP:0003117 IAO:0000115 An abnormal concentration of a hormone in the blood An abnormal concentration of a hormone in the blood NOT_TRANSLATED -en nl HP:0003118 rdfs:label Increased circulating cortisol level Toegenomen circulerend cortisol-niveau CANDIDATE -en nl HP:0003118 IAO:0000115 Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features NOT_TRANSLATED -en nl HP:0003119 rdfs:label Abnormal circulating lipid concentration Afwijking van vet metabolisme CANDIDATE -en nl HP:0003119 IAO:0000115 Any deviation from the normal concentration of a lipid in the blood circulation Any deviation from the normal concentration of a lipid in the blood circulation NOT_TRANSLATED -en nl HP:0003121 rdfs:label Limb joint contracture Ledemaat gewricht contractuur CANDIDATE -en nl HP:0003121 IAO:0000115 A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs NOT_TRANSLATED -en nl HP:0003124 rdfs:label Hypercholesterolemia Hypercholesterolemie CANDIDATE -en nl HP:0003124 IAO:0000115 An increased concentration of cholesterol in the blood An increased concentration of cholesterol in the blood NOT_TRANSLATED -en nl HP:0003125 rdfs:label Reduced factor VIII activity Verminderde activiteit van factor VIII CANDIDATE -en nl HP:0003125 IAO:0000115 Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X NOT_TRANSLATED -en nl HP:0003126 rdfs:label Low-molecular-weight proteinuria Laag-moleculair-gewicht proteinurie CANDIDATE -en nl HP:0003126 IAO:0000115 Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD) Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD) NOT_TRANSLATED -en nl HP:0003127 rdfs:label Hypocalciuria Hypocalciurie CANDIDATE -en nl HP:0003127 IAO:0000115 An abnormally decreased calcium concentration in the urine An abnormally decreased calcium concentration in the urine NOT_TRANSLATED -en nl HP:0003128 rdfs:label Lactic acidosis Lactaat acidose CANDIDATE -en nl HP:0003128 IAO:0000115 An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids NOT_TRANSLATED -en nl HP:0003130 rdfs:label Abnormal peripheral myelination Abnormale perifere myelinisatie CANDIDATE -en nl HP:0003130 IAO:0000115 An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense NOT_TRANSLATED -en nl HP:0003131 rdfs:label Cystinuria Cystinurie CANDIDATE -en nl HP:0003131 IAO:0000115 An increased concentration of cystine in the urine An increased concentration of cystine in the urine NOT_TRANSLATED -en nl HP:0003133 rdfs:label Abnormality of the spinocerebellar tracts Afwijking van de spinocerebellaire banen CANDIDATE -en nl HP:0003133 IAO:0000115 An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract NOT_TRANSLATED -en nl HP:0003134 rdfs:label Abnormality of peripheral nerve conduction Afwijking van de perifere zenuw voortgeleiding CANDIDATE -en nl HP:0003134 IAO:0000115 An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS) An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS) NOT_TRANSLATED -en nl HP:0003137 rdfs:label Prolinuria Hyperprolinemie CANDIDATE -en nl HP:0003137 IAO:0000115 An increased concentration of proline in the urine An increased concentration of proline in the urine NOT_TRANSLATED -en nl HP:0003138 rdfs:label Increased blood urea nitrogen Verhoogd bloed-ureum-stikstof CANDIDATE -en nl HP:0003138 IAO:0000115 An increased amount of nitrogen in the form of urea in the blood An increased amount of nitrogen in the form of urea in the blood NOT_TRANSLATED -en nl HP:0003139 rdfs:label Panhypogammaglobulinemia Panhypogammaglobulinemie CANDIDATE -en nl HP:0003139 IAO:0000115 A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes NOT_TRANSLATED -en nl HP:0003140 rdfs:label T-wave inversion in the right precordial leads T-golf inversie in de rechter precardiale afleidingen CANDIDATE -en nl HP:0003141 rdfs:label Increased LDL cholesterol concentration Toegenomen niveau van circulerende low-density-lipoproteïnen CANDIDATE -en nl HP:0003141 IAO:0000115 An elevated concentration of low-density lipoprotein cholesterol in the blood An elevated concentration of low-density lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0003142 rdfs:label Excessive purine production Overtollige purine productie CANDIDATE -en nl HP:0003144 rdfs:label Increased serum serotonin Verhoogd serum serotonine CANDIDATE -en nl HP:0003144 IAO:0000115 A increased concentration of serotonin in the blood A increased concentration of serotonin in the blood NOT_TRANSLATED -en nl HP:0003145 rdfs:label Decreased adenosylcobalamin Verminderd adenosylcobalamine CANDIDATE -en nl HP:0003145 IAO:0000115 Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12 Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12 NOT_TRANSLATED -en nl HP:0003146 rdfs:label Hypocholesterolemia Hypocholesterolemie CANDIDATE -en nl HP:0003146 IAO:0000115 An decreased concentration of cholesterol in the blood An decreased concentration of cholesterol in the blood NOT_TRANSLATED -en nl HP:0003148 rdfs:label Elevated serum acid phosphatase Verhoogd serum zure fosfatase CANDIDATE -en nl HP:0003149 rdfs:label Hyperuricosuria Hyperuricosurie CANDIDATE -en nl HP:0003149 IAO:0000115 An abnormally high level of uric acid in the urine An abnormally high level of uric acid in the urine NOT_TRANSLATED -en nl HP:0003150 rdfs:label Glutaric aciduria Glutaaracidurie CANDIDATE -en nl HP:0003150 IAO:0000115 An increased concentration of glutaric acid in the urine An increased concentration of glutaric acid in the urine NOT_TRANSLATED -en nl HP:0003153 rdfs:label Cystathioninuria Cystathioninurie CANDIDATE -en nl HP:0003153 IAO:0000115 An elevated urinary concentration of cystathionine An elevated urinary concentration of cystathionine NOT_TRANSLATED -en nl HP:0003154 rdfs:label Increased circulating ACTH level Toegenomen circulerend ACTH-niveau CANDIDATE -en nl HP:0003154 IAO:0000115 An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood NOT_TRANSLATED -en nl HP:0003155 rdfs:label Elevated circulating alkaline phosphatase concentration Verhoogd alkalisch fosfatase CANDIDATE -en nl HP:0003155 IAO:0000115 Abnormally increased serum levels of alkaline phosphatase activity Abnormally increased serum levels of alkaline phosphatase activity NOT_TRANSLATED -en nl HP:0003158 rdfs:label Hyposthenuria Hyposthenurie CANDIDATE -en nl HP:0003158 IAO:0000115 An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine NOT_TRANSLATED -en nl HP:0003159 rdfs:label Hyperoxaluria Hyperoxalurie CANDIDATE -en nl HP:0003159 IAO:0000115 Increased excretion of oxalates in the urine Increased excretion of oxalates in the urine NOT_TRANSLATED -en nl HP:0003160 rdfs:label Abnormal isoelectric focusing of serum transferrin Abnormal isoelectric focusing of serum transferrin NOT_TRANSLATED -en nl HP:0003160 IAO:0000115 Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded NOT_TRANSLATED -en nl HP:0003161 rdfs:label 4-Hydroxyphenylpyruvic aciduria 4-Hydroxyphenylpyruvic aciduria NOT_TRANSLATED -en nl HP:0003161 IAO:0000115 Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine NOT_TRANSLATED -en nl HP:0003162 rdfs:label Fasting hypoglycemia Vastende hypoglykemie CANDIDATE -en nl HP:0003163 rdfs:label Elevated urinary delta-aminolevulinic acid Verhoogd delta-aminolevulinezuuur CANDIDATE -en nl HP:0003163 IAO:0000115 An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine NOT_TRANSLATED -en nl HP:0003164 rdfs:label Hypothalamic gonadotropin-releasing hormone deficiency Hypothalame gonadotropine-releasing-hormoon deficiëntie CANDIDATE -en nl HP:0003165 rdfs:label Elevated circulating parathyroid hormone level Verhoogd circulerend parathormoon niveau CANDIDATE -en nl HP:0003165 IAO:0000115 An abnormal increased concentration of parathyroid hormone An abnormal increased concentration of parathyroid hormone NOT_TRANSLATED -en nl HP:0003166 rdfs:label Increased urinary taurine Verhoogd taurine in urine CANDIDATE -en nl HP:0003166 IAO:0000115 Increased concentration of taurine in the urine Increased concentration of taurine in the urine NOT_TRANSLATED -en nl HP:0003167 rdfs:label Carnosinuria Carnosinurie CANDIDATE -en nl HP:0003167 IAO:0000115 An increased concentration of carnosine in the urine An increased concentration of carnosine in the urine NOT_TRANSLATED -en nl HP:0003168 rdfs:label Dibasicaminoaciduria Dibasische aminoacidurie CANDIDATE -en nl HP:0003168 IAO:0000115 An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His) An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His) NOT_TRANSLATED -en nl HP:0003170 rdfs:label Abnormal acetabulum morphology Afwijking van het acetabulum CANDIDATE -en nl HP:0003170 IAO:0000115 An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint NOT_TRANSLATED -en nl HP:0003172 rdfs:label Abnormality of the pubic bone Afwijking van het os pubis CANDIDATE -en nl HP:0003172 IAO:0000115 An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone NOT_TRANSLATED -en nl HP:0003173 rdfs:label Hypoplastic pubic bone Hypoplastisch os pubis CANDIDATE -en nl HP:0003173 IAO:0000115 Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone NOT_TRANSLATED -en nl HP:0003174 rdfs:label Abnormality of the ischium Afwijking van het ischium CANDIDATE -en nl HP:0003174 IAO:0000115 An anomaly of the ischium, which forms the lower and back part of the hip bone An anomaly of the ischium, which forms the lower and back part of the hip bone NOT_TRANSLATED -en nl HP:0003175 rdfs:label Hypoplastic ischia Hypoplastische ischia CANDIDATE -en nl HP:0003175 IAO:0000115 Underdevelopment of the ischium, which forms the lower and back part of the hip bone Underdevelopment of the ischium, which forms the lower and back part of the hip bone NOT_TRANSLATED -en nl HP:0003177 rdfs:label Squared iliac bones Squared iliac bones NOT_TRANSLATED -en nl HP:0003177 IAO:0000115 A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance NOT_TRANSLATED -en nl HP:0003179 rdfs:label Protrusio acetabuli Protrusio acetabuli CANDIDATE -en nl HP:0003179 IAO:0000115 Intrapelvic bulging of the medial acetabular wall Intrapelvic bulging of the medial acetabular wall NOT_TRANSLATED -en nl HP:0003180 rdfs:label Flat acetabular roof Plat acetabulair dak CANDIDATE -en nl HP:0003180 IAO:0000115 Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does NOT_TRANSLATED -en nl HP:0003182 rdfs:label Shallow acetabular fossae Ondiepe acetabulaire fossae CANDIDATE -en nl HP:0003183 rdfs:label Wide pubic symphysis Breed symphysis pubis CANDIDATE -en nl HP:0003183 IAO:0000115 Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones NOT_TRANSLATED -en nl HP:0003184 rdfs:label Decreased hip abduction Verminderde heup abductie CANDIDATE -en nl HP:0003184 IAO:0000115 Reduced ability to move the femur outward to the side Reduced ability to move the femur outward to the side NOT_TRANSLATED -en nl HP:0003185 rdfs:label Short greater sciatic notch Korte incisura ischiadica CANDIDATE -en nl HP:0003185 IAO:0000115 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch NOT_TRANSLATED -en nl HP:0003186 rdfs:label Inverted nipples Omgekeerde tepels CANDIDATE -en nl HP:0003186 IAO:0000115 The presence of nipples that instead of pointing outward are retracted inwards The presence of nipples that instead of pointing outward are retracted inwards NOT_TRANSLATED -en nl HP:0003187 rdfs:label Breast hypoplasia Hypoplasie van de borst CANDIDATE -en nl HP:0003187 IAO:0000115 Underdevelopment of the breast Underdevelopment of the breast NOT_TRANSLATED -en nl HP:0003189 rdfs:label Long nose Lange neus CANDIDATE -en nl HP:0003189 IAO:0000115 Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base NOT_TRANSLATED -en nl HP:0003191 rdfs:label Cleft ala nasi Gespleten ala nasi CANDIDATE -en nl HP:0003191 IAO:0000115 The presence of a notch in the margin of the ala nasi The presence of a notch in the margin of the ala nasi NOT_TRANSLATED -en nl HP:0003193 rdfs:label Allergic rhinitis Allergische rhinitis CANDIDATE -en nl HP:0003193 IAO:0000115 It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea NOT_TRANSLATED -en nl HP:0003194 rdfs:label Short nasal bridge Korte neusrug CANDIDATE -en nl HP:0003194 IAO:0000115 Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose NOT_TRANSLATED -en nl HP:0003196 rdfs:label Short nose Korte neus CANDIDATE -en nl HP:0003196 IAO:0000115 Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip NOT_TRANSLATED -en nl HP:0003198 rdfs:label Myopathy Myopathie CANDIDATE -en nl HP:0003198 IAO:0000115 A disorder of muscle unrelated to impairment of innervation or neuromuscular junction A disorder of muscle unrelated to impairment of innervation or neuromuscular junction NOT_TRANSLATED -en nl HP:0003199 rdfs:label Decreased muscle mass Verminderde spiermassa CANDIDATE -en nl HP:0003200 rdfs:label Ragged-red muscle fibers Gerafelde rode spiervezels CANDIDATE -en nl HP:0003200 IAO:0000115 An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm NOT_TRANSLATED -en nl HP:0003201 rdfs:label Rhabdomyolysis Rabdomyolyse CANDIDATE -en nl HP:0003201 IAO:0000115 Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream NOT_TRANSLATED -en nl HP:0003202 rdfs:label Skeletal muscle atrophy Atrofie van de skeletspieren CANDIDATE -en nl HP:0003202 IAO:0000115 The presence of skeletal muscular atrophy (which is also known as amyotrophy) The presence of skeletal muscular atrophy (which is also known as amyotrophy) NOT_TRANSLATED -en nl HP:0003203 rdfs:label Impaired oxidative burst Negatieve nitroblauwtetrazolium reductie test CANDIDATE -en nl HP:0003203 IAO:0000115 In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria NOT_TRANSLATED -en nl HP:0003204 rdfs:label Intracellular accumulation of autofluorescent lipopigment storage material Intracellulaire accumulatie van autofluorescent lipopigment opslag materiaal CANDIDATE -en nl HP:0003204 IAO:0000115 The intracellular accumulation of autofluorescent storage material The intracellular accumulation of autofluorescent storage material NOT_TRANSLATED -en nl HP:0003205 rdfs:label Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Kromlijnige intracellulaire accumulatie van autofluorescent lipopigment opslag materiaal CANDIDATE -en nl HP:0003205 IAO:0000115 An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern NOT_TRANSLATED -en nl HP:0003206 rdfs:label Decreased activity of NADPH oxidase Verminderde activiteit van NADPH oxidase CANDIDATE -en nl HP:0003207 rdfs:label Arterial calcification Arteriële calcificatie CANDIDATE -en nl HP:0003207 IAO:0000115 Pathological deposition of calcium salts in one or more arteries Pathological deposition of calcium salts in one or more arteries NOT_TRANSLATED -en nl HP:0003208 rdfs:label Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material NOT_TRANSLATED -en nl HP:0003208 IAO:0000115 An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern NOT_TRANSLATED -en nl HP:0003209 rdfs:label Decreased pyruvate carboxylase activity Verminderde pyruvaat carboxylase activiteit CANDIDATE -en nl HP:0003209 IAO:0000115 A decreased rate of pyruvate carboxylase activity A decreased rate of pyruvate carboxylase activity NOT_TRANSLATED -en nl HP:0003210 rdfs:label Decreased methylmalonyl-CoA mutase activity Verminderde methylmalonyl-CoA mutase activiteit CANDIDATE -en nl HP:0003210 IAO:0000115 An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity NOT_TRANSLATED -en nl HP:0003212 rdfs:label Increased circulating IgE level Verhoogde IgE niveau CANDIDATE -en nl HP:0003212 IAO:0000115 An abnormally increased overall level of immunoglobulin E in blood An abnormally increased overall level of immunoglobulin E in blood NOT_TRANSLATED -en nl HP:0003213 rdfs:label Deficient excision of UV-induced pyrimidine dimers in DNA Gebrekkige excisie van UV-geïnduceerde pyrimidine-dimeren in DNA CANDIDATE -en nl HP:0003214 rdfs:label Prolonged G2 phase of cell cycle Verlengde G2-fase van de celcyclus CANDIDATE -en nl HP:0003215 rdfs:label Dicarboxylic aciduria Dicarboxylische acidurie CANDIDATE -en nl HP:0003215 IAO:0000115 An increased concentration of dicarboxylic acid in the urine An increased concentration of dicarboxylic acid in the urine NOT_TRANSLATED -en nl HP:0003216 rdfs:label Generalized amyloid deposition Gegeneraliseerde amyloïde depositie CANDIDATE -en nl HP:0003216 IAO:0000115 A diffuse form of amyloidosis A diffuse form of amyloidosis NOT_TRANSLATED -en nl HP:0003217 rdfs:label Hyperglutaminemia Hyperglutaminemie CANDIDATE -en nl HP:0003217 IAO:0000115 An increased concentration of glutamine in the blood An increased concentration of glutamine in the blood NOT_TRANSLATED -en nl HP:0003218 rdfs:label Oroticaciduria Oroticacidurie CANDIDATE -en nl HP:0003218 IAO:0000115 An increased concentration of orotic acid in the urine An increased concentration of orotic acid in the urine NOT_TRANSLATED -en nl HP:0003219 rdfs:label Ethylmalonic aciduria Ethylmalonacidurie CANDIDATE -en nl HP:0003219 IAO:0000115 An increased concentration of ethylmalonic acid in the urine An increased concentration of ethylmalonic acid in the urine NOT_TRANSLATED -en nl HP:0003220 rdfs:label Abnormality of chromosome stability Afwijking van chromosoom stabiliteit CANDIDATE -en nl HP:0003220 IAO:0000115 A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration NOT_TRANSLATED -en nl HP:0003221 rdfs:label Chromosomal breakage induced by crosslinking agents Chromosomale breuken geïnduceerd door crosslinking agents CANDIDATE -en nl HP:0003221 IAO:0000115 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C NOT_TRANSLATED -en nl HP:0003223 rdfs:label Decreased methylcobalamin Verminderd methylcobalamine CANDIDATE -en nl HP:0003223 IAO:0000115 Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 NOT_TRANSLATED -en nl HP:0003224 rdfs:label Increased cellular sensitivity to UV light Verhoogde cellulaire gevoeligheid voor UV-licht CANDIDATE -en nl HP:0003225 rdfs:label Reduced coagulation factor V activity Verlaagde factor V activiteit CANDIDATE -en nl HP:0003225 IAO:0000115 Decreased activity of coagulation factor V Decreased activity of coagulation factor V NOT_TRANSLATED -en nl HP:0003226 rdfs:label Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Rechtlijnige intracellulaire accumulatie van autofluorescent lipopigment opslag materiaal CANDIDATE -en nl HP:0003226 IAO:0000115 An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern NOT_TRANSLATED -en nl HP:0003228 rdfs:label Hypernatremia Hypernatriëmie CANDIDATE -en nl HP:0003228 IAO:0000115 An abnormally increased sodium concentration in the blood An abnormally increased sodium concentration in the blood NOT_TRANSLATED -en nl HP:0003231 rdfs:label Hypertyrosinemia Hypertyrosinemie CANDIDATE -en nl HP:0003231 IAO:0000115 An increased concentration of tyrosine in the blood An increased concentration of tyrosine in the blood NOT_TRANSLATED -en nl HP:0003232 rdfs:label Mitochondrial malic enzyme reduced Mitochondrial malic enzyme reduced NOT_TRANSLATED -en nl HP:0003233 rdfs:label Decreased HDL cholesterol concentration Verminderde circulerend high-density lipoproteïnen niveaus CANDIDATE -en nl HP:0003233 IAO:0000115 An decreased concentration of high-density lipoprotein cholesterol in the blood An decreased concentration of high-density lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0003234 rdfs:label Decreased plasma carnitine Verminderd plasma carnitine CANDIDATE -en nl HP:0003234 IAO:0000115 A decreased concentration of carnitine in the blood A decreased concentration of carnitine in the blood NOT_TRANSLATED -en nl HP:0003235 rdfs:label Hypermethioninemia Hypermethioninemie CANDIDATE -en nl HP:0003235 IAO:0000115 An increased concentration of methionine in the blood An increased concentration of methionine in the blood NOT_TRANSLATED -en nl HP:0003236 rdfs:label Elevated circulating creatine kinase concentration Verhoogd serum creatine fosfokinase CANDIDATE -en nl HP:0003236 IAO:0000115 An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy NOT_TRANSLATED -en nl HP:0003237 rdfs:label Increased circulating IgG level Verhoogd IgG niveau CANDIDATE -en nl HP:0003237 IAO:0000115 An abnormally increased level of immunoglobulin G in blood An abnormally increased level of immunoglobulin G in blood NOT_TRANSLATED -en nl HP:0003238 rdfs:label Hyperpepsinogenemia I Hyperpepsinogenemie I CANDIDATE -en nl HP:0003239 rdfs:label Phosphoethanolaminuria Fosfo-ethanolaminurie CANDIDATE -en nl HP:0003239 IAO:0000115 An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine NOT_TRANSLATED -en nl HP:0003240 rdfs:label Increased phosphoribosylpyrophosphate synthetase level Verhoogd fosforibosyl pyrofosfaat synthetase CANDIDATE -en nl HP:0003240 IAO:0000115 Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate NOT_TRANSLATED -en nl HP:0003241 rdfs:label External genital hypoplasia Externe genitaliën hypoplasie CANDIDATE -en nl HP:0003241 IAO:0000115 Underdevelopment of part or all of the external reproductive organs Underdevelopment of part or all of the external reproductive organs NOT_TRANSLATED -en nl HP:0003244 rdfs:label Penile hypospadias Penis hypospadiën CANDIDATE -en nl HP:0003244 IAO:0000115 Location of the urethral opening on the inferior aspect of the penis Location of the urethral opening on the inferior aspect of the penis NOT_TRANSLATED -en nl HP:0003246 rdfs:label Prominent scrotal raphe Prominente scrotale raphe CANDIDATE -en nl HP:0003246 IAO:0000115 Increased size of the ridge of tissue that extends along the midline of the scrotum Increased size of the ridge of tissue that extends along the midline of the scrotum NOT_TRANSLATED -en nl HP:0003247 rdfs:label Overgrowth of external genitalia Overgroei van externe genitaliën CANDIDATE -en nl HP:0003248 rdfs:label Gonadal tissue inappropriate for external genitalia or chromosomal sex Gonadaal weefsel niet passend bij externe genitaliën of chromosomaal geslacht CANDIDATE -en nl HP:0003249 rdfs:label Genital ulcers Genitale ulcers CANDIDATE -en nl HP:0003250 rdfs:label Aplasia of the vagina Aplasie van de vagina CANDIDATE -en nl HP:0003250 IAO:0000115 Aplasia of the vagina Aplasia of the vagina NOT_TRANSLATED -en nl HP:0003251 rdfs:label Male infertility Mannelijke onvruchtbaarheid CANDIDATE -en nl HP:0003252 rdfs:label Anteriorly displaced genitalia Anterieure misplaatste genitaliën CANDIDATE -en nl HP:0003254 rdfs:label Abnormality of DNA repair Afwijking van DNA repareermechanisme CANDIDATE -en nl HP:0003254 IAO:0000115 An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage NOT_TRANSLATED -en nl HP:0003256 rdfs:label Abnormality of the coagulation cascade Afwijking van de stollingscascade CANDIDATE -en nl HP:0003256 IAO:0000115 An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators NOT_TRANSLATED -en nl HP:0003258 rdfs:label Glyoxalase deficiency Glyoxalase tekort CANDIDATE -en nl HP:0003259 rdfs:label Elevated circulating creatinine concentration Verhoogd serum creatinine CANDIDATE -en nl HP:0003259 IAO:0000115 An increased amount of creatinine in the blood An increased amount of creatinine in the blood NOT_TRANSLATED -en nl HP:0003260 rdfs:label Hydroxyprolinemia Hydroxyprolinemie CANDIDATE -en nl HP:0003260 IAO:0000115 An increased concentration of hydroxyproline in the blood An increased concentration of hydroxyproline in the blood NOT_TRANSLATED -en nl HP:0003261 rdfs:label Increased circulating IgA level Verhoogd IgA niveau CANDIDATE -en nl HP:0003261 IAO:0000115 An abnormally increased level of immunoglobulin A in blood An abnormally increased level of immunoglobulin A in blood NOT_TRANSLATED -en nl HP:0003262 rdfs:label Smooth muscle antibody positivity Gladde spier antilichaam positiviteit CANDIDATE -en nl HP:0003262 IAO:0000115 The presence in serum of antibodies against smooth muscle The presence in serum of antibodies against smooth muscle NOT_TRANSLATED -en nl HP:0003264 rdfs:label Deficiency of N-acetylglucosamine-1-phosphotransferase Deficiëntie van N-acetylglucosamine-1-fosfotransferase CANDIDATE -en nl HP:0003265 rdfs:label Neonatal hyperbilirubinemia Neonatale hyperbilirubinemie CANDIDATE -en nl HP:0003265 IAO:0000115 A type of hyperbilirubinemia with neonatal onset A type of hyperbilirubinemia with neonatal onset NOT_TRANSLATED -en nl HP:0003267 rdfs:label Reduced orotidine 5-prime phosphate decarboxylase level Verminderde orotidine 5'-fosfaat- decarboxylase activiteit CANDIDATE -en nl HP:0003267 IAO:0000115 An abnormal decrease in orotidine 5'-phosphate decarboxylase level An abnormal decrease in orotidine 5'-phosphate decarboxylase level NOT_TRANSLATED -en nl HP:0003268 rdfs:label Argininuria Argininurie CANDIDATE -en nl HP:0003268 IAO:0000115 A increased concentration of arginine in the urine A increased concentration of arginine in the urine NOT_TRANSLATED -en nl HP:0003269 rdfs:label Sudanophilic leukodystrophy Sudanofiele leukodystrofie CANDIDATE -en nl HP:0003270 rdfs:label Abdominal distention Abdominale distensie CANDIDATE -en nl HP:0003270 IAO:0000115 Distention of the abdomen Distention of the abdomen NOT_TRANSLATED -en nl HP:0003271 rdfs:label Visceromegaly Visceromegalie CANDIDATE -en nl HP:0003271 IAO:0000115 Abnormal increased size of the viscera of the abdomen Abnormal increased size of the viscera of the abdomen NOT_TRANSLATED -en nl HP:0003272 rdfs:label Abnormal hip bone morphology Afwijking van het heup bot CANDIDATE -en nl HP:0003272 IAO:0000115 An abnormality of the hip bone An abnormality of the hip bone NOT_TRANSLATED -en nl HP:0003273 rdfs:label Hip contracture Heup contractuur CANDIDATE -en nl HP:0003274 rdfs:label Hypoplastic acetabulae Hypoplastische acetabulae CANDIDATE -en nl HP:0003274 IAO:0000115 Underdeveloped acetabulae Underdeveloped acetabulae NOT_TRANSLATED -en nl HP:0003275 rdfs:label Narrow pelvis bone Smal bekkenbeen CANDIDATE -en nl HP:0003275 IAO:0000115 Reduced side to side width of the pelvis Reduced side to side width of the pelvis NOT_TRANSLATED -en nl HP:0003276 rdfs:label Pelvic bone exostoses Bekkenbeen exostosen CANDIDATE -en nl HP:0003276 IAO:0000115 A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage NOT_TRANSLATED -en nl HP:0003277 rdfs:label Constricted iliac wing Vernauwde alae ossis ilium CANDIDATE -en nl HP:0003278 rdfs:label Square pelvis bone Vierkant bekken bot CANDIDATE -en nl HP:0003278 IAO:0000115 An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure NOT_TRANSLATED -en nl HP:0003279 rdfs:label Coxa magna Coxa magna CANDIDATE -en nl HP:0003279 IAO:0000115 Widening of the femoral head and neck Widening of the femoral head and neck NOT_TRANSLATED -en nl HP:0003281 rdfs:label Increased circulating ferritin concentration Verhoogd serum ferritine CANDIDATE -en nl HP:0003281 IAO:0000115 Increased concentration of ferritin in the blood circulation Increased concentration of ferritin in the blood circulation NOT_TRANSLATED -en nl HP:0003282 rdfs:label Low alkaline phosphatase Laag alkalisch fosfatase CANDIDATE -en nl HP:0003282 IAO:0000115 Abnormally reduced serum levels of alkaline phosphatase Abnormally reduced serum levels of alkaline phosphatase NOT_TRANSLATED -en nl HP:0003286 rdfs:label Cystathioninemia Cystathioninemie CANDIDATE -en nl HP:0003286 IAO:0000115 An increased concentration of cystathionine in the blood An increased concentration of cystathionine in the blood NOT_TRANSLATED -en nl HP:0003287 rdfs:label Abnormality of mitochondrial metabolism Afwijking van mitochondriale metabolisme CANDIDATE -en nl HP:0003287 IAO:0000115 A functional anomaly of mitochondria A functional anomaly of mitochondria NOT_TRANSLATED -en nl HP:0003288 rdfs:label Mitochondrial propionyl-CoA carboxylase defect Mitochondriaal propionyl-CoA carboxylase defect CANDIDATE -en nl HP:0003292 rdfs:label Decreased serum leptin Verlaagd serum leptine CANDIDATE -en nl HP:0003292 IAO:0000115 A decreased concentration of leptin in the blood A decreased concentration of leptin in the blood NOT_TRANSLATED -en nl HP:0003296 rdfs:label Hyperthreoninuria Hyperthreoninurie CANDIDATE -en nl HP:0003296 IAO:0000115 An increased concentration of threonine in the urine An increased concentration of threonine in the urine NOT_TRANSLATED -en nl HP:0003297 rdfs:label Hyperlysinuria Hyperlysinemie CANDIDATE -en nl HP:0003297 IAO:0000115 An increased concentration of lysine in the urine An increased concentration of lysine in the urine NOT_TRANSLATED -en nl HP:0003298 rdfs:label Spina bifida occulta Spina bifida occulta CANDIDATE -en nl HP:0003298 IAO:0000115 The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin NOT_TRANSLATED -en nl HP:0003300 rdfs:label Ovoid vertebral bodies Eivormige wervellichamen CANDIDATE -en nl HP:0003300 IAO:0000115 When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval NOT_TRANSLATED -en nl HP:0003301 rdfs:label Irregular vertebral endplates Irregulaire vertebrale eindplaten CANDIDATE -en nl HP:0003301 IAO:0000115 An irregular surface of the vertebral end plates, which are normally relatively smooth An irregular surface of the vertebral end plates, which are normally relatively smooth NOT_TRANSLATED -en nl HP:0003302 rdfs:label Spondylolisthesis Spondylolisthesis CANDIDATE -en nl HP:0003302 IAO:0000115 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra NOT_TRANSLATED -en nl HP:0003304 rdfs:label Spondylolysis Spondylolysis CANDIDATE -en nl HP:0003304 IAO:0000115 Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma NOT_TRANSLATED -en nl HP:0003305 rdfs:label Block vertebrae Blok wervel CANDIDATE -en nl HP:0003305 IAO:0000115 Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies) Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies) NOT_TRANSLATED -en nl HP:0003306 rdfs:label Spinal rigidity Spinale rigiditeit CANDIDATE -en nl HP:0003306 IAO:0000115 Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion NOT_TRANSLATED -en nl HP:0003307 rdfs:label Hyperlordosis Hyperlordose CANDIDATE -en nl HP:0003307 IAO:0000115 Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine NOT_TRANSLATED -en nl HP:0003308 rdfs:label Cervical subluxation Cervicale Subluxatie CANDIDATE -en nl HP:0003308 IAO:0000115 A partial dislocation of one or more intervertebral joints in the cervical vertebral column A partial dislocation of one or more intervertebral joints in the cervical vertebral column NOT_TRANSLATED -en nl HP:0003309 rdfs:label Ovoid thoracolumbar vertebrae Eivormige thoracolumbale wervels CANDIDATE -en nl HP:0003310 rdfs:label Abnormality of the odontoid process Afwijking van het processus odontoideus CANDIDATE -en nl HP:0003310 IAO:0000115 Abnormality of the dens of the axis, which is also known as the odontoid process Abnormality of the dens of the axis, which is also known as the odontoid process NOT_TRANSLATED -en nl HP:0003311 rdfs:label Hypoplasia of the odontoid process Hypoplasie van het processus odontoideus CANDIDATE -en nl HP:0003311 IAO:0000115 Developmental hypoplasia of the dens of the axis Developmental hypoplasia of the dens of the axis NOT_TRANSLATED -en nl HP:0003312 rdfs:label Abnormal form of the vertebral bodies Afwijkende vorm van de wervellichamen CANDIDATE -en nl HP:0003312 IAO:0000115 Abnormal morphology of vertebral body Abnormal morphology of vertebral body NOT_TRANSLATED -en nl HP:0003316 rdfs:label Butterfly vertebrae Vlinderwervel CANDIDATE -en nl HP:0003316 IAO:0000115 A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray NOT_TRANSLATED -en nl HP:0003318 rdfs:label Cervical spine hypermobility Cervicale wervelkolom hypermobiliteit CANDIDATE -en nl HP:0003319 rdfs:label Abnormality of the cervical spine Afwijking van de cervicale wervelkolom CANDIDATE -en nl HP:0003319 IAO:0000115 Any abnormality of the cervical vertebral column Any abnormality of the cervical vertebral column NOT_TRANSLATED -en nl HP:0003320 rdfs:label C1-C2 subluxation C1-C2 subluxatie CANDIDATE -en nl HP:0003320 IAO:0000115 A partial dislocation of the atlantoaxial joints A partial dislocation of the atlantoaxial joints NOT_TRANSLATED -en nl HP:0003321 rdfs:label Biconcave flattened vertebrae Biconcave afgevlakte wervels CANDIDATE -en nl HP:0003323 rdfs:label Progressive muscle weakness Progressieve spierzwakte CANDIDATE -en nl HP:0003324 rdfs:label Generalized muscle weakness Gegeneraliseerde spierzwakte CANDIDATE -en nl HP:0003324 IAO:0000115 Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature NOT_TRANSLATED -en nl HP:0003325 rdfs:label Limb-girdle muscle weakness Bekkengordel spierzwakte CANDIDATE -en nl HP:0003325 IAO:0000115 Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis NOT_TRANSLATED -en nl HP:0003326 rdfs:label Myalgia Myalgie CANDIDATE -en nl HP:0003326 IAO:0000115 Pain in muscle Pain in muscle NOT_TRANSLATED -en nl HP:0003327 rdfs:label Axial muscle weakness Axiale spierzwakte CANDIDATE -en nl HP:0003327 IAO:0000115 Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs) Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs) NOT_TRANSLATED -en nl HP:0003328 rdfs:label Abnormal hairshaft morphology Afwijkend laboratoriumonderzoek van haar CANDIDATE -en nl HP:0003328 IAO:0000115 An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin NOT_TRANSLATED -en nl HP:0003329 rdfs:label Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes NOT_TRANSLATED -en nl HP:0003330 rdfs:label Abnormal bone structure Afwijkende botstructuur CANDIDATE -en nl HP:0003330 IAO:0000115 Any anomaly in the composite material or the layered arrangement of the bony skeleton Any anomaly in the composite material or the layered arrangement of the bony skeleton NOT_TRANSLATED -en nl HP:0003332 rdfs:label Absent primary metaphyseal spongiosa Afwezige primaire metafysaire spongiosa CANDIDATE -en nl HP:0003333 rdfs:label Increased serum beta-hexosaminidase Verhoogd serum beta-hexosaminidase CANDIDATE -en nl HP:0003334 rdfs:label Elevated circulating catecholamine level Verhoogd circulerend catecholamine niveau CANDIDATE -en nl HP:0003334 IAO:0000115 An abnormal increase in catecholamine concentration in the blood An abnormal increase in catecholamine concentration in the blood NOT_TRANSLATED -en nl HP:0003336 rdfs:label Abnormal enchondral ossification Abnormale enchondrale ossificatie CANDIDATE -en nl HP:0003336 IAO:0000115 An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage NOT_TRANSLATED -en nl HP:0003337 rdfs:label Reduced prothrombin consumption Verminderde protrombine consumptie CANDIDATE -en nl HP:0003337 IAO:0000115 The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia NOT_TRANSLATED -en nl HP:0003338 rdfs:label Focal necrosis of right ventricular muscle cells Focale necrose van spiercellen van rechter ventrikel CANDIDATE -en nl HP:0003339 rdfs:label Pyrimidine-responsive megaloblastic anemia Pyrimidine-responsieve megaloblastaire anemie CANDIDATE -en nl HP:0003339 IAO:0000115 A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid NOT_TRANSLATED -en nl HP:0003341 rdfs:label Lamina lucida cleavage Lamina lucida cleavage NOT_TRANSLATED -en nl HP:0003341 IAO:0000115 The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin NOT_TRANSLATED -en nl HP:0003343 rdfs:label Reduced glutathione synthetase level Glutathion synthetase deficiëntie CANDIDATE -en nl HP:0003343 IAO:0000115 Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline NOT_TRANSLATED -en nl HP:0003344 rdfs:label 3-Methylglutaric aciduria 3-Methylglutaarzuuracidurie CANDIDATE -en nl HP:0003344 IAO:0000115 An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine NOT_TRANSLATED -en nl HP:0003345 rdfs:label Elevated urinary norepinephrine Verhoogd urinair norepinefrine CANDIDATE -en nl HP:0003345 IAO:0000115 An increased concentration of noradrenaline in the urine An increased concentration of noradrenaline in the urine NOT_TRANSLATED -en nl HP:0003347 rdfs:label Impaired lymphocyte transformation with phytohemagglutinin Verminderde lymfocyt transformatie met fytohemagglutinine CANDIDATE -en nl HP:0003347 IAO:0000115 Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes NOT_TRANSLATED -en nl HP:0003348 rdfs:label Hyperalaninemia Hyperalaninemie CANDIDATE -en nl HP:0003348 IAO:0000115 An increased concentration of alanine in the blood An increased concentration of alanine in the blood NOT_TRANSLATED -en nl HP:0003349 rdfs:label Low cholesterol esterification rate Lage mate van cholesterol verestering CANDIDATE -en nl HP:0003349 IAO:0000115 A reduction in the rate of cholesterol esterification A reduction in the rate of cholesterol esterification NOT_TRANSLATED -en nl HP:0003351 rdfs:label Decreased circulating renin level Verminderd circulerende renine CANDIDATE -en nl HP:0003351 IAO:0000115 An decreased level of renin in the blood An decreased level of renin in the blood NOT_TRANSLATED -en nl HP:0003352 rdfs:label Endopolyploidy on chromosome studies of bone marrow Endopolyploïdie op chromosoomonderzoek van beenmerg CANDIDATE -en nl HP:0003352 IAO:0000115 An increase in the number of chromosome sets per cell in bone marrow cells An increase in the number of chromosome sets per cell in bone marrow cells NOT_TRANSLATED -en nl HP:0003353 rdfs:label Propionyl-CoA carboxylase deficiency Propionyl-CoA carboxylase deficiëntie CANDIDATE -en nl HP:0003353 IAO:0000115 An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase NOT_TRANSLATED -en nl HP:0003354 rdfs:label Hyperthreoninemia Hyperthreoninemie CANDIDATE -en nl HP:0003354 IAO:0000115 An increased concentration of threonine in the blood An increased concentration of threonine in the blood NOT_TRANSLATED -en nl HP:0003355 rdfs:label Aminoaciduria Aminoacidurie CANDIDATE -en nl HP:0003355 IAO:0000115 An increased concentration of an amino acid in the urine An increased concentration of an amino acid in the urine NOT_TRANSLATED -en nl HP:0003357 rdfs:label Thymic hormone decreased Thymus hormoon vermindering CANDIDATE -en nl HP:0003357 IAO:0000115 A reduction in the level of thymic horomone A reduction in the level of thymic horomone NOT_TRANSLATED -en nl HP:0003358 rdfs:label Elevated intracellular cystine Verhoogde intracellulaire cystine CANDIDATE -en nl HP:0003358 IAO:0000115 An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells NOT_TRANSLATED -en nl HP:0003359 rdfs:label Decreased urinary sulfate Verminderd urine sulfaat CANDIDATE -en nl HP:0003359 IAO:0000115 Decreased concentration of sulfate in the urine Decreased concentration of sulfate in the urine NOT_TRANSLATED -en nl HP:0003361 rdfs:label Tryptophanuria Tryptofanurie CANDIDATE -en nl HP:0003361 IAO:0000115 An increased concentration of tryptophan in the urine An increased concentration of tryptophan in the urine NOT_TRANSLATED -en nl HP:0003362 rdfs:label Increased VLDL cholesterol concentration Toegenomen circulerende very-low-density-lipoproteïnen niveaus CANDIDATE -en nl HP:0003362 IAO:0000115 An increase in the amount of very-low-density lipoprotein cholesterol in the blood An increase in the amount of very-low-density lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0003363 rdfs:label Abdominal situs inversus Abdominale situs inversus CANDIDATE -en nl HP:0003363 IAO:0000115 "A left-right reversal (or ""mirror reflection"") of the anatomical location of the viscera of the abdomen" "A left-right reversal (or ""mirror reflection"") of the anatomical location of the viscera of the abdomen" NOT_TRANSLATED -en nl HP:0003365 rdfs:label Arthralgia of the hip Artralgie van de heup CANDIDATE -en nl HP:0003365 IAO:0000115 Joint pain affecting the hip Joint pain affecting the hip NOT_TRANSLATED -en nl HP:0003366 rdfs:label Abnormal femoral neck/head morphology Afwijking van de femurhals of femurkop CANDIDATE -en nl HP:0003367 rdfs:label Abnormal femoral neck morphology Afwijking van de femurhals CANDIDATE -en nl HP:0003367 IAO:0000115 An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED -en nl HP:0003368 rdfs:label Abnormal femoral head morphology Afwijking van de femurkop CANDIDATE -en nl HP:0003368 IAO:0000115 An abnormality of the femoral head An abnormality of the femoral head NOT_TRANSLATED -en nl HP:0003370 rdfs:label Flat capital femoral epiphysis Vlakke epifyse van de femurkop CANDIDATE -en nl HP:0003370 IAO:0000115 An abnormal flattening of the proximal epiphysis of the femur An abnormal flattening of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0003371 rdfs:label Enlargement of the proximal femoral epiphysis Vergroting van de proximale femorale epifyse CANDIDATE -en nl HP:0003371 IAO:0000115 An abnormal enlargement of the proximal epiphysis of the femur An abnormal enlargement of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0003375 rdfs:label Narrow greater sciatic notch Smalle incisurae ischiadica major CANDIDATE -en nl HP:0003375 IAO:0000115 A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium NOT_TRANSLATED -en nl HP:0003376 rdfs:label Steppage gait Steppegang CANDIDATE -en nl HP:0003376 IAO:0000115 An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again NOT_TRANSLATED -en nl HP:0003378 rdfs:label Axonal degeneration/regeneration Axonale degeneratie/regeneratie CANDIDATE -en nl HP:0003378 IAO:0000115 A pattern of simultaneous degeneration and regeneration of axons (see comment) A pattern of simultaneous degeneration and regeneration of axons (see comment) NOT_TRANSLATED -en nl HP:0003380 rdfs:label Decreased number of peripheral myelinated nerve fibers Verminderd aantal van perifeer gemyeliniseerde zenuwvezels CANDIDATE -en nl HP:0003380 IAO:0000115 A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy) A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy) NOT_TRANSLATED -en nl HP:0003382 rdfs:label Hypertrophic nerve changes Hypertrofische zenuw veranderingen CANDIDATE -en nl HP:0003383 rdfs:label Onion bulb formation Onion bulb formatie CANDIDATE -en nl HP:0003383 IAO:0000115 Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves NOT_TRANSLATED -en nl HP:0003384 rdfs:label Peripheral axonal atrophy Perifere axonale atrofie CANDIDATE -en nl HP:0003384 IAO:0000115 Atrophic changes of axons of the peripheral nervous system Atrophic changes of axons of the peripheral nervous system NOT_TRANSLATED -en nl HP:0003387 rdfs:label Decreased number of large peripheral myelinated nerve fibers Verminderd aantal van grote perifere gemyeliniseerde zenuwvezels CANDIDATE -en nl HP:0003387 IAO:0000115 A reduced number of large myelinated nerve fibers A reduced number of large myelinated nerve fibers NOT_TRANSLATED -en nl HP:0003388 rdfs:label Easy fatigability Gemakkelijk vermoeibaar CANDIDATE -en nl HP:0003388 IAO:0000115 Increased susceptibility to fatigue Increased susceptibility to fatigue NOT_TRANSLATED -en nl HP:0003390 rdfs:label Sensory axonal neuropathy Sensorische axonale neuropathie CANDIDATE -en nl HP:0003390 IAO:0000115 An axonal neuropathy of peripheral sensory nerves An axonal neuropathy of peripheral sensory nerves NOT_TRANSLATED -en nl HP:0003391 rdfs:label Gowers sign Teken van Gowers CANDIDATE -en nl HP:0003391 IAO:0000115 A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs NOT_TRANSLATED -en nl HP:0003392 rdfs:label First dorsal interossei muscle weakness Eerste musculus interosseus dorsalis Spierzwakte CANDIDATE -en nl HP:0200003 rdfs:label Splayed epiphyses Gespreide epifysen CANDIDATE -en nl HP:0200003 IAO:0000115 Flaring (widening) of the epiphysis Flaring (widening) of the epiphysis NOT_TRANSLATED -en nl HP:0003393 rdfs:label Thenar muscle atrophy Duimmuis spieratrofie CANDIDATE -en nl HP:0003393 IAO:0000115 Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb NOT_TRANSLATED -en nl HP:0003394 rdfs:label Muscle spasm Spierkrampen CANDIDATE -en nl HP:0003394 IAO:0000115 Sudden and involuntary contractions of one or more muscles Sudden and involuntary contractions of one or more muscles NOT_TRANSLATED -en nl HP:0200001 rdfs:label Dysharmonic accelerated bone age Dysharmonisch versnelde bot leeftijd CANDIDATE -en nl HP:0200001 IAO:0000115 A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones NOT_TRANSLATED -en nl HP:0200000 rdfs:label Dysharmonic bone age Dysharmonische bot leeftijd CANDIDATE -en nl HP:0200000 IAO:0000115 Different levels of maturation of different bones Different levels of maturation of different bones NOT_TRANSLATED -en nl HP:0003396 rdfs:label Syringomyelia Syringomyelie CANDIDATE -en nl HP:0003396 IAO:0000115 Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord NOT_TRANSLATED -en nl HP:0200007 rdfs:label Abnormal size of the palpebral fissures Afwijkende grootte van de ooglidspleten CANDIDATE -en nl HP:0200007 IAO:0000115 An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures NOT_TRANSLATED -en nl HP:0003397 rdfs:label Generalized hypotonia due to defect at the neuromuscular junction Gegeneraliseerde hypotonie vanwege een defect van de neuromusculaire overgang CANDIDATE -en nl HP:0200006 rdfs:label Slanting of the palpebral fissure Schuine stand van de ooglidspleet CANDIDATE -en nl HP:0003398 rdfs:label Abnormal synaptic transmission at the neuromuscular junction Abnormale synaptische transmissie van de neuromusculaire overgang CANDIDATE -en nl HP:0003398 IAO:0000115 Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers NOT_TRANSLATED -en nl HP:0200005 rdfs:label Abnormal shape of the palpebral fissure Afwijkende vorm van de ooglidspleet CANDIDATE -en nl HP:0200005 IAO:0000115 The presence of an abnormal shape of the palpebral fissure The presence of an abnormal shape of the palpebral fissure NOT_TRANSLATED -en nl HP:0003400 rdfs:label Basal lamina onion bulb formation Lamina basalis 'onion bulb' formatie CANDIDATE -en nl HP:0003400 IAO:0000115 A type of onion bulb formation prominently affecting the area of the basal lamina A type of onion bulb formation prominently affecting the area of the basal lamina NOT_TRANSLATED -en nl HP:0200011 rdfs:label Abnormal length of corpus callosum Afwijkende lengte van corpus callosum CANDIDATE -en nl HP:0003401 rdfs:label Paresthesia Paresthesie CANDIDATE -en nl HP:0003401 IAO:0000115 Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause NOT_TRANSLATED -en nl HP:0003402 rdfs:label Decreased miniature endplate potentials Verlaagde miniatuur eindplaat potentialen CANDIDATE -en nl HP:0003402 IAO:0000115 An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction NOT_TRANSLATED -en nl HP:0003403 rdfs:label EMG: decremental response of compound muscle action potential to repetitive nerve stimulation EMG: decremental response of compound muscle action potential to repetitive nerve stimulation NOT_TRANSLATED -en nl HP:0003403 IAO:0000115 A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation NOT_TRANSLATED -en nl HP:0200008 rdfs:label Intestinal polyposis Intestinale polyposis CANDIDATE -en nl HP:0200008 IAO:0000115 The presence of multiple polyps in the intestine The presence of multiple polyps in the intestine NOT_TRANSLATED -en nl HP:0200015 rdfs:label Symmetric great toe depigmentation Symmetrische grote teen depigmentatie CANDIDATE -en nl HP:0003405 rdfs:label Diffuse axonal swelling Diffuse axonale zwelling CANDIDATE -en nl HP:0003406 rdfs:label Peripheral nerve compression Perifere zenuw compressie CANDIDATE -en nl HP:0200013 rdfs:label Neoplasm of fatty tissue Neoplasma van vetweefsel CANDIDATE -en nl HP:0200013 IAO:0000115 A tumor (abnormal growth of tissue) of adipose tissue A tumor (abnormal growth of tissue) of adipose tissue NOT_TRANSLATED -en nl HP:0200012 rdfs:label Short corpus callosum Kort corpus callosum CANDIDATE -en nl HP:0003409 rdfs:label Distal sensory impairment of all modalities Distaal sensorische stoornis van alle modaliteiten CANDIDATE -en nl HP:0003409 IAO:0000115 Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities NOT_TRANSLATED -en nl HP:0200018 rdfs:label Protanomaly Protanomalie CANDIDATE -en nl HP:0200018 IAO:0000115 A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green NOT_TRANSLATED -en nl HP:0200017 rdfs:label Cerebral white matter agenesis Agenesie van de cerebrale witte stof CANDIDATE -en nl HP:0200017 IAO:0000115 Congenital defect with failure of the development of the cerebral white matter Congenital defect with failure of the development of the cerebral white matter NOT_TRANSLATED -en nl HP:0003411 rdfs:label Proximal femoral metaphyseal irregularity Proximale femorale metafysaire onregelmatigheid CANDIDATE -en nl HP:0003411 IAO:0000115 Irregularity of the normally smooth surface of the proximal metaphysis of the femur Irregularity of the normally smooth surface of the proximal metaphysis of the femur NOT_TRANSLATED -en nl HP:0200016 rdfs:label Acrokeratosis Acrokeratosis CANDIDATE -en nl HP:0200016 IAO:0000115 Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet NOT_TRANSLATED -en nl HP:0200023 rdfs:label Priapism Priapisme CANDIDATE -en nl HP:0200023 IAO:0000115 A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours NOT_TRANSLATED -en nl HP:0003413 rdfs:label Atlantoaxial abnormality Atlantoaxiale afwijking CANDIDATE -en nl HP:0003413 IAO:0000115 An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae NOT_TRANSLATED -en nl HP:0200022 rdfs:label Choroid plexus papilloma Plexus choroideus papilloma CANDIDATE -en nl HP:0200022 IAO:0000115 Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus NOT_TRANSLATED -en nl HP:0003414 rdfs:label Atlantoaxial dislocation Atlantoaxiale dislocatie CANDIDATE -en nl HP:0003414 IAO:0000115 Partial dislocation of the atlantoaxial joint Partial dislocation of the atlantoaxial joint NOT_TRANSLATED -en nl HP:0200021 rdfs:label Down-sloping shoulders Afhangende schouders CANDIDATE -en nl HP:0200021 IAO:0000115 Low set, steeply sloping shoulders Low set, steeply sloping shoulders NOT_TRANSLATED -en nl HP:0200020 rdfs:label Corneal erosion Corneale erosie CANDIDATE -en nl HP:0200020 IAO:0000115 An erosion or abrasion of the cornea's outermost layer of epithelial cells An erosion or abrasion of the cornea's outermost layer of epithelial cells NOT_TRANSLATED -en nl HP:0003416 rdfs:label Spinal canal stenosis Spinaalkanaalstenose CANDIDATE -en nl HP:0003416 IAO:0000115 An abnormal narrowing of the spinal canal An abnormal narrowing of the spinal canal NOT_TRANSLATED -en nl HP:0003417 rdfs:label Coronal cleft vertebrae Coronale gespleten wervels CANDIDATE -en nl HP:0003417 IAO:0000115 Frontal schisis (cleft or cleavage) of vertebral bodies Frontal schisis (cleft or cleavage) of vertebral bodies NOT_TRANSLATED -en nl HP:0200026 rdfs:label Ocular pain Oculaire pijn CANDIDATE -en nl HP:0200026 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye NOT_TRANSLATED -en nl HP:0003418 rdfs:label Back pain Rugpijn CANDIDATE -en nl HP:0003418 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back NOT_TRANSLATED -en nl HP:0200025 rdfs:label Mandibular pain Mandibulaire pijn CANDIDATE -en nl HP:0200025 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible NOT_TRANSLATED -en nl HP:0003419 rdfs:label Low back pain Lage rugpijn CANDIDATE -en nl HP:0003419 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back NOT_TRANSLATED -en nl HP:0200024 rdfs:label Premature chromatid separation Premature scheiding van chromatiden CANDIDATE -en nl HP:0200024 IAO:0000115 The presence of premature sister chromatid segregation The presence of premature sister chromatid segregation NOT_TRANSLATED -en nl HP:0200030 rdfs:label Punctate vasculitis skin lesions Punctate vasculitis skin lesions NOT_TRANSLATED -en nl HP:0003422 rdfs:label Vertebral segmentation defect Vertebraal segmentatie defect CANDIDATE -en nl HP:0003422 IAO:0000115 An abnormality related to a defect of vertebral separation during development An abnormality related to a defect of vertebral separation during development NOT_TRANSLATED -en nl HP:0200029 rdfs:label Vasculitis in the skin Vasculitis in de huid CANDIDATE -en nl HP:0003423 rdfs:label Thoracolumbar kyphoscoliosis Thoracolumbale kyfoscoliose CANDIDATE -en nl HP:0200028 rdfs:label Pretibial myxedema Pretibiaal myxoedeem CANDIDATE -en nl HP:0200028 IAO:0000115 A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet NOT_TRANSLATED -en nl HP:0200035 rdfs:label Skin plaque Huid plaque CANDIDATE -en nl HP:0200035 IAO:0000115 A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter NOT_TRANSLATED -en nl HP:0200034 rdfs:label Papule Papel CANDIDATE -en nl HP:0200034 IAO:0000115 A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point NOT_TRANSLATED -en nl HP:0003426 rdfs:label First dorsal interossei muscle atrophy Eerste musculus interosseus dorsalis atrofie CANDIDATE -en nl HP:0003427 rdfs:label Thenar muscle weakness Thenar spierzwakte CANDIDATE -en nl HP:0200032 rdfs:label Kayser-Fleischer ring Kayser-Fleischer ring CANDIDATE -en nl HP:0200032 IAO:0000115 Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea NOT_TRANSLATED -en nl HP:0200039 rdfs:label Pustule Pustel CANDIDATE -en nl HP:0200039 IAO:0000115 A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells NOT_TRANSLATED -en nl HP:0003429 rdfs:label CNS hypomyelination CZS hypomyelinisatie CANDIDATE -en nl HP:0003429 IAO:0000115 Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis NOT_TRANSLATED -en nl HP:0200037 rdfs:label Skin vesicle Huid vesikel CANDIDATE -en nl HP:0200037 IAO:0000115 A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point NOT_TRANSLATED -en nl HP:0003431 rdfs:label Decreased motor nerve conduction velocity Verminderde motorische zenuw geleidingssnelheid CANDIDATE -en nl HP:0003431 IAO:0000115 A type of decreased nerve conduction velocity that affects the motor neuron A type of decreased nerve conduction velocity that affects the motor neuron NOT_TRANSLATED -en nl HP:0200036 rdfs:label Skin nodule Huid nodulus CANDIDATE -en nl HP:0200036 IAO:0000115 Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat NOT_TRANSLATED -en nl HP:0200043 rdfs:label Verrucae Verrucae CANDIDATE -en nl HP:0200043 IAO:0000115 Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas NOT_TRANSLATED -en nl HP:0200042 rdfs:label Skin ulcer Cutane ulceratie CANDIDATE -en nl HP:0200042 IAO:0000115 A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat NOT_TRANSLATED -en nl HP:0003434 rdfs:label Sensory ataxic neuropathy Sensorische atactische neuropathie CANDIDATE -en nl HP:0200041 rdfs:label Skin erosion Huid erosie CANDIDATE -en nl HP:0200041 IAO:0000115 A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed NOT_TRANSLATED -en nl HP:0003435 rdfs:label Cold-induced hand cramps Koud-geïnduceerde hand krampen CANDIDATE -en nl HP:0200040 rdfs:label Epidermoid cyst Epidermoïd cyste CANDIDATE -en nl HP:0200040 IAO:0000115 Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts NOT_TRANSLATED -en nl HP:0003436 rdfs:label Prolonged miniature endplate currents Prolonged miniature endplate currents NOT_TRANSLATED -en nl HP:0003436 IAO:0000115 An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction NOT_TRANSLATED -en nl HP:0200047 rdfs:label Chondritis of pinna Chondritis van oorschelp CANDIDATE -en nl HP:0200047 IAO:0000115 Inflammation of the cartilage of the external ear Inflammation of the cartilage of the external ear NOT_TRANSLATED -en nl HP:0200046 rdfs:label Cat cry Huil als kat CANDIDATE -en nl HP:0200046 IAO:0000115 The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten NOT_TRANSLATED -en nl HP:0003438 rdfs:label Absent Achilles reflex Afwezige Achillespees reflex CANDIDATE -en nl HP:0003438 IAO:0000115 Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed NOT_TRANSLATED -en nl HP:0200044 rdfs:label Porokeratosis Porokeratose CANDIDATE -en nl HP:0200044 IAO:0000115 A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella NOT_TRANSLATED -en nl HP:0003440 rdfs:label Horizontal sacrum Horizontaal sacrum CANDIDATE -en nl HP:0200050 rdfs:label Bracket metacarpal epiphyses Haakvormige epifysen van de metacarpalen CANDIDATE -en nl HP:0200049 rdfs:label Upper limb hypertonia Hypertonie van de bovenste extremiteit CANDIDATE -en nl HP:0200049 IAO:0000115 Increased muscle tone observed in the arms of the affected person Increased muscle tone observed in the arms of the affected person NOT_TRANSLATED -en nl HP:0003443 rdfs:label Decreased size of nerve terminals Verminderde grootte van zenuwuiteinden CANDIDATE -en nl HP:0003443 IAO:0000115 A reduction in the size of nerve terminals A reduction in the size of nerve terminals NOT_TRANSLATED -en nl HP:0200048 rdfs:label Cyanotic episode Cyanotische episode CANDIDATE -en nl HP:0003444 rdfs:label EMG: chronic denervation signs EMG: chronische denervatie tekenen CANDIDATE -en nl HP:0003444 IAO:0000115 Evidence of chronic denervation on electromyography Evidence of chronic denervation on electromyography NOT_TRANSLATED -en nl HP:0200055 rdfs:label Small hand Kleine hand CANDIDATE -en nl HP:0200055 IAO:0000115 Disproportionately small hand Disproportionately small hand NOT_TRANSLATED -en nl HP:0003445 rdfs:label EMG: neuropathic changes EMG: neuropatische veranderingen CANDIDATE -en nl HP:0003445 IAO:0000115 The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials) The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials) NOT_TRANSLATED -en nl HP:0200054 rdfs:label Foot monodactyly Voet monodactylie CANDIDATE -en nl HP:0200053 rdfs:label Hemihypotrophy of lower limb Hemihypotrofie van onderste extremiteit CANDIDATE -en nl HP:0200053 IAO:0000115 Shortening of a leg affecting only one side Shortening of a leg affecting only one side NOT_TRANSLATED -en nl HP:0003447 rdfs:label Axonal loss Axonaal verlies CANDIDATE -en nl HP:0003447 IAO:0000115 A reduction in the number of axons in the peripheral nervous system A reduction in the number of axons in the peripheral nervous system NOT_TRANSLATED -en nl HP:0003448 rdfs:label Decreased sensory nerve conduction velocity Verminderde sensorische zenuw geleidingssnelheid CANDIDATE -en nl HP:0003448 IAO:0000115 Reduced speed of conduction of the action potential along a sensory nerve Reduced speed of conduction of the action potential along a sensory nerve NOT_TRANSLATED -en nl HP:0200059 rdfs:label Metastatic angiosarcoma Metastatisch angiosarcoom CANDIDATE -en nl HP:0003449 rdfs:label Cold-induced muscle cramps Koud-geïnduceerde spierkrampen CANDIDATE -en nl HP:0003449 IAO:0000115 Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures NOT_TRANSLATED -en nl HP:0200058 rdfs:label Angiosarcoma Angiosarcoom CANDIDATE -en nl HP:0003450 rdfs:label Axonal regeneration Axonale regeneratie CANDIDATE -en nl HP:0003450 IAO:0000115 The presence of axonal regeneration following a previous axonal lesion The presence of axonal regeneration following a previous axonal lesion NOT_TRANSLATED -en nl HP:0200057 rdfs:label Marcus Gunn pupil Marcus Gunn pupil CANDIDATE -en nl HP:0200057 IAO:0000115 An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye NOT_TRANSLATED -en nl HP:0003451 rdfs:label Increased rate of premature chromosome condensation Verhoogde snelheid van premature chromosoom condensatie CANDIDATE -en nl HP:0003451 IAO:0000115 An increased rate of premature chromosome condensation An increased rate of premature chromosome condensation NOT_TRANSLATED -en nl HP:0200056 rdfs:label Macular scar Litteken van de macula CANDIDATE -en nl HP:0200056 IAO:0000115 Scar tissue in the macula Scar tissue in the macula NOT_TRANSLATED -en nl HP:0003452 rdfs:label Increased serum iron Verhoogd serum ijzer CANDIDATE -en nl HP:0200063 rdfs:label Colorectal polyposis Colorectale polyposis CANDIDATE -en nl HP:0200063 IAO:0000115 Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen NOT_TRANSLATED -en nl HP:0003453 rdfs:label Antineutrophil antibody positivity Antineutrofiele antistoffen positiviteit CANDIDATE -en nl HP:0003453 IAO:0000115 The presence of autoantibodies in the serum that react against neutrophils The presence of autoantibodies in the serum that react against neutrophils NOT_TRANSLATED -en nl HP:0003454 rdfs:label Platelet antibody positive Positieve antistoffen tegen bloedplaatjes CANDIDATE -en nl HP:0003454 IAO:0000115 The presence in the serum of autoantibodies directed against thrombocytes The presence in the serum of autoantibodies directed against thrombocytes NOT_TRANSLATED -en nl HP:0003455 rdfs:label Elevated circulating long chain fatty acid concentration Verhoogde lange keten vetzuren CANDIDATE -en nl HP:0003455 IAO:0000115 Increased concentration of long-chain fatty acids in the blood circulation Increased concentration of long-chain fatty acids in the blood circulation NOT_TRANSLATED -en nl HP:0003456 rdfs:label Low urinary cyclic AMP response to PTH administration Lage urine cyclisch AMP reactie op PTH toedoening CANDIDATE -en nl HP:0200067 rdfs:label Recurrent spontaneous abortion Recidiverende spontane abortus CANDIDATE -en nl HP:0200067 IAO:0000115 Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference NOT_TRANSLATED -en nl HP:0003457 rdfs:label EMG abnormality EMG afwijking CANDIDATE -en nl HP:0003457 IAO:0000115 Abnormal results of investigations using electromyography (EMG) Abnormal results of investigations using electromyography (EMG) NOT_TRANSLATED -en nl HP:0200066 rdfs:label Ribbonlike corneal degeneration Lintachgie corneale degeneratie CANDIDATE -en nl HP:0003458 rdfs:label EMG: myopathic abnormalities EMG: myopatische afwijkingen CANDIDATE -en nl HP:0003458 IAO:0000115 The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials NOT_TRANSLATED -en nl HP:0200065 rdfs:label Chorioretinal degeneration Chorioretinale degeneratie CANDIDATE -en nl HP:0003459 rdfs:label Polyclonal elevation of IgM Polyclonale verhoging van IgM CANDIDATE -en nl HP:0003459 IAO:0000115 A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis NOT_TRANSLATED -en nl HP:0200064 rdfs:label Asymmetry of iris pigmentation Asymmetrie van iris pigmentatie CANDIDATE -en nl HP:0200064 IAO:0000115 Asymmetry between the two irides or asymmetry between different parts of one iris Asymmetry between the two irides or asymmetry between different parts of one iris NOT_TRANSLATED -en nl HP:0003460 rdfs:label Decreased circulating total IgA Totale immunoglobuline A deficiëntie CANDIDATE -en nl HP:0003460 IAO:0000115 Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L) Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L) NOT_TRANSLATED -en nl HP:0200071 rdfs:label Peripheral vitreoretinal degeneration Perifere vitreoretinale degeneratie CANDIDATE -en nl HP:0200071 IAO:0000115 A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina NOT_TRANSLATED -en nl HP:0003461 rdfs:label Increased urinary O-linked sialopeptides Verhoogd urine O-sialopeptiden CANDIDATE -en nl HP:0003461 IAO:0000115 Excretion of peptides conjugated to sialic acid in the urine Excretion of peptides conjugated to sialic acid in the urine NOT_TRANSLATED -en nl HP:0200070 rdfs:label Peripheral retinal atrophy Perifere retinale atrofie CANDIDATE -en nl HP:0003462 rdfs:label Elevated 8-dehydrocholesterol Verhoogd 8-dehydrocholesterol CANDIDATE -en nl HP:0003463 rdfs:label Increased extraneuronal autofluorescent lipopigment Verhoogd extraneuronaal autofluorescent lipopigment CANDIDATE -en nl HP:0003463 IAO:0000115 Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient NOT_TRANSLATED -en nl HP:0200068 rdfs:label Nonprogressive visual loss Non-progressief visus verlies CANDIDATE -en nl HP:0003465 rdfs:label Elevated 8(9)-cholestenol Verhoogd 8(9)-cholestenol CANDIDATE -en nl HP:0003466 rdfs:label Paradoxical increased cortisol secretion on dexamethasone suppression test Paradoxaal verhoogde cortisol secretie bij dexamethason onderdrukkingstest CANDIDATE -en nl HP:0200073 rdfs:label Respiratory insufficiency due to defective ciliary clearance Respiratoire insufficiëntie als gevolg van defecte ciliaire klaring CANDIDATE -en nl HP:0003467 rdfs:label Atlantoaxial instability Atlantoaxiale instabiliteit CANDIDATE -en nl HP:0003467 IAO:0000115 Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly NOT_TRANSLATED -en nl HP:0200072 rdfs:label Episodic quadriplegia Episodische tetraplegie CANDIDATE -en nl HP:0200072 IAO:0000115 Intermittent episodes of paralysis of all four limbs Intermittent episodes of paralysis of all four limbs NOT_TRANSLATED -en nl HP:0003468 rdfs:label Abnormal vertebral morphology Abnormale wervel morfologie CANDIDATE -en nl HP:0003468 IAO:0000115 An abnormality of one or more of the vertebrae An abnormality of one or more of the vertebrae NOT_TRANSLATED -en nl HP:0003469 rdfs:label Peripheral dysmyelination Perifere dysmyelinisatie CANDIDATE -en nl HP:0003469 IAO:0000115 Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination NOT_TRANSLATED -en nl HP:0003470 rdfs:label Paralysis Paralyse CANDIDATE -en nl HP:0003470 IAO:0000115 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement NOT_TRANSLATED -en nl HP:0003472 rdfs:label Hypocalcemic tetany Hypocalcemische tetanie CANDIDATE -en nl HP:0003472 IAO:0000115 Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms NOT_TRANSLATED -en nl HP:0200083 rdfs:label Severe limb shortening Ernstige ledemaat verkorting CANDIDATE -en nl HP:0003473 rdfs:label Fatigable weakness Fatigable weakness NOT_TRANSLATED -en nl HP:0003473 IAO:0000115 A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0003474 rdfs:label Somatic sensory dysfunction Sensorische handicap CANDIDATE -en nl HP:0003474 IAO:0000115 An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing NOT_TRANSLATED -en nl HP:0003477 rdfs:label Peripheral axonal neuropathy Perifere axonale neuropathie CANDIDATE -en nl HP:0003477 IAO:0000115 An abnormality characterized by disruption of the normal functioning of peripheral axons An abnormality characterized by disruption of the normal functioning of peripheral axons NOT_TRANSLATED -en nl HP:0200085 rdfs:label Limb tremor Ledemaat tremor CANDIDATE -en nl HP:0200084 rdfs:label Giant cell hepatitis Reuze cel hepatitis CANDIDATE -en nl HP:0200084 IAO:0000115 Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver NOT_TRANSLATED -en nl HP:0003481 rdfs:label Segmental peripheral demyelination/remyelination Segmentale perifere demyelinisatie/remyelinisatie CANDIDATE -en nl HP:0003481 IAO:0000115 A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves NOT_TRANSLATED -en nl HP:0003482 rdfs:label EMG: axonal abnormality EMG: axonale afwijking CANDIDATE -en nl HP:0003482 IAO:0000115 Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials NOT_TRANSLATED -en nl HP:0003484 rdfs:label Upper limb muscle weakness Spierzwakte van de bovenste extremiteit CANDIDATE -en nl HP:0003484 IAO:0000115 Weakness of the muscles of the arms Weakness of the muscles of the arms NOT_TRANSLATED -en nl HP:0200094 rdfs:label Frontal open bite Frontale open beet CANDIDATE -en nl HP:0003487 rdfs:label Babinski sign Teken van Babinski CANDIDATE -en nl HP:0003487 IAO:0000115 Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract NOT_TRANSLATED -en nl HP:0003489 rdfs:label Acute episodes of neuropathic symptoms Acute episoden van neuropathische symptomen CANDIDATE -en nl HP:0200098 rdfs:label Absent skin pigmentation Afwezigheid van huidpigmentatie CANDIDATE -en nl HP:0200098 IAO:0000115 Lack of skin pigmentation (coloring) Lack of skin pigmentation (coloring) NOT_TRANSLATED -en nl HP:0200097 rdfs:label Oral mucosal blisters Orale mucosale blaren CANDIDATE -en nl HP:0200097 IAO:0000115 Blisters arising in the mouth Blisters arising in the mouth NOT_TRANSLATED -en nl HP:0003491 rdfs:label Elevated urine pyrophosphate Verhoogd urine pyrofosfaat CANDIDATE -en nl HP:0003491 IAO:0000115 An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate NOT_TRANSLATED -en nl HP:0200096 rdfs:label Triangular-shaped open mouth Triangel-vormige open mond CANDIDATE -en nl HP:0200096 IAO:0000115 A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle NOT_TRANSLATED -en nl HP:0003492 rdfs:label High urinary gonadotropin level Hoge urinair gonadotrofinen niveau CANDIDATE -en nl HP:0003492 IAO:0000115 An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism NOT_TRANSLATED -en nl HP:0003493 rdfs:label Antinuclear antibody positivity Positieve antinucleaire antistoffen CANDIDATE -en nl HP:0003493 IAO:0000115 The presence of autoantibodies in the serum that react against nuclei or nuclear components The presence of autoantibodies in the serum that react against nuclei or nuclear components NOT_TRANSLATED -en nl HP:0200102 rdfs:label Sparse or absent eyelashes Spaarzame of afwezige wimpers CANDIDATE -en nl HP:0200101 rdfs:label Decreased/absent ankle reflexes Verlaagde/afwezige enkel reflexen CANDIDATE -en nl HP:0003495 rdfs:label GM2-ganglioside accumulation GM2-ganglioside accumulatie CANDIDATE -en nl HP:0003495 IAO:0000115 Cellular accumulation of GM2 gangliosides Cellular accumulation of GM2 gangliosides NOT_TRANSLATED -en nl HP:0003496 rdfs:label Increased circulating IgM level Verhoogd IgM-niveau CANDIDATE -en nl HP:0003496 IAO:0000115 An abnormally increased level of immunoglobulin M in blood An abnormally increased level of immunoglobulin M in blood NOT_TRANSLATED -en nl HP:0200107 rdfs:label Shortened inner dynein arms Verkorte binnenste dyneïne-armen CANDIDATE -en nl HP:0200106 rdfs:label Absent/shortened dynein arms Afwezige/verkorte dyneïne-armen CANDIDATE -en nl HP:0003498 rdfs:label Disproportionate short stature Disproportionele kleine lengte CANDIDATE -en nl HP:0003498 IAO:0000115 A kind of short stature in which different regions of the body are shortened to differing extents A kind of short stature in which different regions of the body are shortened to differing extents NOT_TRANSLATED -en nl HP:0200105 rdfs:label Absent fifth toenail Afwezige vijfde teennagel CANDIDATE -en nl HP:0200104 rdfs:label Absent fifth fingernail Afwezige vijfde vingernagel CANDIDATE -en nl HP:0200104 IAO:0000115 Absence of nail of little finger Absence of nail of little finger NOT_TRANSLATED -en nl HP:0200111 rdfs:label Absent stapes head Afwezig stapes kopje CANDIDATE -en nl HP:0003502 rdfs:label Mild short stature Milde kleine lengte CANDIDATE -en nl HP:0003502 IAO:0000115 A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex NOT_TRANSLATED -en nl HP:0200109 rdfs:label Absent/shortened outer dynein arms Afwezige/verkorte buitenste dyneïne-armen CANDIDATE -en nl HP:0200108 rdfs:label Shortened outer dynein arms Verkorte buitenste dyneïne-armen CANDIDATE -en nl HP:0200114 rdfs:label Metabolic alkalosis Metabole alkalose CANDIDATE -en nl HP:0200114 IAO:0000115 Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process NOT_TRANSLATED -en nl HP:0200113 rdfs:label Aphalangy of hands and feet Afalangie van handen en voeten CANDIDATE -en nl HP:0003508 rdfs:label Proportionate short stature Geproportioneerde kleine lengte CANDIDATE -en nl HP:0003508 IAO:0000115 A kind of short stature in which different regions of the body are shortened to a comparable extent A kind of short stature in which different regions of the body are shortened to a comparable extent NOT_TRANSLATED -en nl HP:0200119 rdfs:label Acute hepatitis Acute hepatitis CANDIDATE -en nl HP:0200119 IAO:0000115 Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders NOT_TRANSLATED -en nl HP:0200118 rdfs:label Malabsorption of Vitamin B12 Malabsorptie van vitamine B12 CANDIDATE -en nl HP:0003510 rdfs:label Severe short stature Ernstige kleine lengte CANDIDATE -en nl HP:0003510 IAO:0000115 A severe degree of short stature, more than -4 SD from the mean corrected for age and sex A severe degree of short stature, more than -4 SD from the mean corrected for age and sex NOT_TRANSLATED -en nl HP:0200117 rdfs:label Recurrent upper and lower respiratory tract infections Recidiverende bovenste en onderste luchtweginfecties CANDIDATE -en nl HP:0200117 IAO:0000115 Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections NOT_TRANSLATED -en nl HP:0200116 rdfs:label Distal ileal atresia Distale ileale atresie CANDIDATE -en nl HP:0200123 rdfs:label Chronic hepatitis Chronische hepatitis CANDIDATE -en nl HP:0200123 IAO:0000115 Hepatitis that lasts for more than six months Hepatitis that lasts for more than six months NOT_TRANSLATED -en nl HP:0003513 rdfs:label Reduced ratio of renal calcium clearance to creatinine clearance Verminderde van renale calcium klaring in verhouding tot de creatinineklaring CANDIDATE -en nl HP:0003513 IAO:0000115 A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01 A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01 NOT_TRANSLATED -en nl HP:0200122 rdfs:label Atypical or prolonged hepatitis Atypische of langdurige hepatitis CANDIDATE -en nl HP:0003514 rdfs:label Deficiency or absence of cytochrome b(-245) Deficiëntie of ontbreken van cytochroom b(-245) CANDIDATE -en nl HP:0200120 rdfs:label Chronic active hepatitis Chronische actieve hepatitis CANDIDATE -en nl HP:0200120 IAO:0000115 Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis NOT_TRANSLATED -en nl HP:0200127 rdfs:label Atrial cardiomyopathy Atriale cardiomyopathie CANDIDATE -en nl HP:0200127 IAO:0000115 Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations NOT_TRANSLATED -en nl HP:0003517 rdfs:label Birth length greater than 97th percentile Geboorte lengte groter dan 97ste percentiel CANDIDATE -en nl HP:0200125 rdfs:label Mitochondrial respiratory chain defects Mitochondriale respiratoire keten defecten CANDIDATE -en nl HP:0200124 rdfs:label Chronic hepatitis due to cryptosporidium infection Chronische hepatitis als gevolg van cryptosporidium-infectie CANDIDATE -en nl HP:0200124 IAO:0000115 Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue NOT_TRANSLATED -en nl HP:0003521 rdfs:label Disproportionate short-trunk short stature Disproportionele korte-romp kleine lengte CANDIDATE -en nl HP:0003521 IAO:0000115 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs A type of disproportionate short stature characterized by a short trunk but a average-sized limbs NOT_TRANSLATED -en nl HP:0200128 rdfs:label Biventricular hypertrophy Biventriculaire hypertrofie CANDIDATE -en nl HP:0200128 IAO:0000115 Thickening of the heart walls in both ventricles Thickening of the heart walls in both ventricles NOT_TRANSLATED -en nl HP:0003524 rdfs:label Decreased methionine synthase activity Verminderde methionine synthase activiteit CANDIDATE -en nl HP:0003524 IAO:0000115 A reduction in methionine synthase activity A reduction in methionine synthase activity NOT_TRANSLATED -en nl HP:0200134 rdfs:label Epileptic encephalopathy Epileptische encefalopathie CANDIDATE -en nl HP:0200134 IAO:0000115 A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death NOT_TRANSLATED -en nl HP:0003526 rdfs:label Orotic acid crystalluria Orotinezuur kristalurie CANDIDATE -en nl HP:0003526 IAO:0000115 Formation of crystals owing to an increased concentration of orotic acid in the urine Formation of crystals owing to an increased concentration of orotic acid in the urine NOT_TRANSLATED -en nl HP:0200133 rdfs:label Lumbosacral meningocele Lumbosacrale meningocele CANDIDATE -en nl HP:0003527 rdfs:label Hyperprostaglandinuria Hyperprostaglandinurie CANDIDATE -en nl HP:0003527 IAO:0000115 An increased concentration of prostaglandin in the urine An increased concentration of prostaglandin in the urine NOT_TRANSLATED -en nl HP:0003528 rdfs:label Elevated calcitonin Verhoogd calcitonine CANDIDATE -en nl HP:0003529 rdfs:label Parathormone-independent increased renal tubular calcium reabsorption Parathormoon-onafhankelijke verhoogde renale tubulaire calcium reabsorptie CANDIDATE -en nl HP:0003529 IAO:0000115 An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels NOT_TRANSLATED -en nl HP:0200138 rdfs:label Bilateral choanal atresia/stenosis Bilaterale choanen atresie/stenose CANDIDATE -en nl HP:0003530 rdfs:label Elevated circulating glutaric acid concentration Glutaaracidurie CANDIDATE -en nl HP:0003530 IAO:0000115 An increased concentration of glutaric acid in the blood An increased concentration of glutaric acid in the blood NOT_TRANSLATED -en nl HP:0200136 rdfs:label Oral-pharyngeal dysphagia Orale-faryngeale dysfagie CANDIDATE -en nl HP:0003532 rdfs:label Ornithinuria Ornithinurie CANDIDATE -en nl HP:0003532 IAO:0000115 An increased concentration of ornithine in the urine An increased concentration of ornithine in the urine NOT_TRANSLATED -en nl HP:0200143 rdfs:label Megaloblastic erythroid hyperplasia Megaloblastaire erythroïde hyperplasie CANDIDATE -en nl HP:0003533 rdfs:label Reduced acetaldehyde dehydrogenase level Vertraagde oxidatie van acetaldehyde CANDIDATE -en nl HP:0003533 IAO:0000115 Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism NOT_TRANSLATED -en nl HP:0003534 rdfs:label Reduced xanthine dehydrogenase level Verminderde xanthine dehydrogenase activiteit CANDIDATE -en nl HP:0003534 IAO:0000115 An abnormal reduction in xanthine dehydrogenase level An abnormal reduction in xanthine dehydrogenase level NOT_TRANSLATED -en nl HP:0200141 rdfs:label Small, conical teeth Kleine, kegelvormige tanden CANDIDATE -en nl HP:0003535 rdfs:label 3-Methylglutaconic aciduria 3-Methylglutaconacidurie CANDIDATE -en nl HP:0003535 IAO:0000115 An increased amount of 3-methylglutaconic acid in the urine An increased amount of 3-methylglutaconic acid in the urine NOT_TRANSLATED -en nl HP:0003536 rdfs:label Decreased fumarate hydratase activity Verminderde fumaraat hydratase activiteit CANDIDATE -en nl HP:0003536 IAO:0000115 An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity NOT_TRANSLATED -en nl HP:0200147 rdfs:label Neuronal loss in basal ganglia Neuronaal verlies in de basale ganglia CANDIDATE -en nl HP:0200147 IAO:0000115 A reduction in the number of nerve cells in the basal ganglia A reduction in the number of nerve cells in the basal ganglia NOT_TRANSLATED -en nl HP:0003537 rdfs:label Hypouricemia Hypo-uricemie CANDIDATE -en nl HP:0003537 IAO:0000115 An abnormally low level of uric acid in the blood An abnormally low level of uric acid in the blood NOT_TRANSLATED -en nl HP:0200146 rdfs:label Mucoid extracellular matrix accumulation Cysteuze mediale necrose van de aorta CANDIDATE -en nl HP:0200146 IAO:0000115 An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an HE stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.) An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an HE stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.) NOT_TRANSLATED -en nl HP:0003538 rdfs:label Increased iduronate sulfatase level Increased iduronate sulfatase level NOT_TRANSLATED -en nl HP:0003538 IAO:0000115 An increased level of iduronate-2-sulfatase activity in the blood An increased level of iduronate-2-sulfatase activity in the blood NOT_TRANSLATED -en nl HP:0003540 rdfs:label Impaired platelet aggregation Verminderde bloedplaatjes aggregatie CANDIDATE -en nl HP:0003540 IAO:0000115 An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent NOT_TRANSLATED -en nl HP:0200151 rdfs:label Cutaneous mastocytosis Cutane mastocytose CANDIDATE -en nl HP:0200151 IAO:0000115 Multifocal dense infiltrates of mast cells in cutaneous tissue Multifocal dense infiltrates of mast cells in cutaneous tissue NOT_TRANSLATED -en nl HP:0003541 rdfs:label Urinary glycosaminoglycan excretion Urine glycosaminoglycaan excretie CANDIDATE -en nl HP:0003541 IAO:0000115 Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit NOT_TRANSLATED -en nl HP:0200150 rdfs:label Increased serum bile acid concentration during pregnancy Verhoogde serum galzuur concentratie tijdens zwangerschap CANDIDATE -en nl HP:0003542 rdfs:label Increased serum pyruvate Verhoogd serum pyruvaat CANDIDATE -en nl HP:0003542 IAO:0000115 An increased concentration of pyruvate in the blood An increased concentration of pyruvate in the blood NOT_TRANSLATED -en nl HP:0200149 rdfs:label CSF lymphocytic pleiocytosis Lymfocytaire pleiocytose in liquor CANDIDATE -en nl HP:0200149 IAO:0000115 An increased lymphocyte count in the cerebrospinal fluid An increased lymphocyte count in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0200148 rdfs:label Abnormal liver function tests during pregnancy Afwijkende leverfunctie testen tijdens zwangerschap CANDIDATE -en nl HP:0200154 rdfs:label Agenesis of mandibular lateral incisor Agenesie van mandibulaire laterale snijtand CANDIDATE -en nl HP:0003546 rdfs:label Exercise intolerance Inspanningsintolerantie CANDIDATE -en nl HP:0003546 IAO:0000115 A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender NOT_TRANSLATED -en nl HP:0200153 rdfs:label Agenesis of lateral incisor Agenesie van laterale snijtand CANDIDATE -en nl HP:0003547 rdfs:label Shoulder girdle muscle weakness Schoudergordel spierzwakte CANDIDATE -en nl HP:0003547 IAO:0000115 The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders NOT_TRANSLATED -en nl HP:0003548 rdfs:label Subsarcolemmal accumulations of abnormally shaped mitochondria Subsarcoplasmatische van afwijkend gevormde mitochondriën CANDIDATE -en nl HP:0003548 IAO:0000115 An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology NOT_TRANSLATED -en nl HP:0200159 rdfs:label Agenesis of primary mandibular lateral incisor Agenesie van primaire mandibulaire laterale snijtand CANDIDATE -en nl HP:0003549 rdfs:label Abnormality of connective tissue Afwijking van bindweefsel CANDIDATE -en nl HP:0003549 IAO:0000115 Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat) Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat) NOT_TRANSLATED -en nl HP:0200158 rdfs:label Agenesis of permanent mandibular lateral incisor Agenesie van permanente mandibulaire laterale snijtand CANDIDATE -en nl HP:0003550 rdfs:label Predominantly lower limb lymphedema Lymfeoedeem van met name onderste ledematen CANDIDATE -en nl HP:0003550 IAO:0000115 Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs NOT_TRANSLATED -en nl HP:0003551 rdfs:label Difficulty climbing stairs Moeite met traplopen CANDIDATE -en nl HP:0003551 IAO:0000115 Reduced ability to climb stairs Reduced ability to climb stairs NOT_TRANSLATED -en nl HP:0003552 rdfs:label Muscle stiffness Spierstijfheid CANDIDATE -en nl HP:0003552 IAO:0000115 A condition in which muscles cannot be moved quickly without accompanying pain or spasm A condition in which muscles cannot be moved quickly without accompanying pain or spasm NOT_TRANSLATED -en nl HP:0003554 rdfs:label Type 2 muscle fiber atrophy Type 2 spiervezelatrofie CANDIDATE -en nl HP:0003554 IAO:0000115 Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy NOT_TRANSLATED -en nl HP:0200161 rdfs:label Agenesis of mandibular incisor Agenesie van mandibulaire snijtand CANDIDATE -en nl HP:0003555 rdfs:label Muscle fiber splitting Splitsende spiervezel CANDIDATE -en nl HP:0003555 IAO:0000115 Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches NOT_TRANSLATED -en nl HP:0200160 rdfs:label Agenesis of maxillary incisor Agenesie van maxillaire snijtand CANDIDATE -en nl HP:0003557 rdfs:label Increased variability in muscle fiber diameter Verhoogde variabiliteit in spiervezel diameter CANDIDATE -en nl HP:0003557 IAO:0000115 An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy NOT_TRANSLATED -en nl HP:0003558 rdfs:label Viral infection-induced rhabdomyolysis Door een virale infectie geïnduceerde rhabdomyolyse CANDIDATE -en nl HP:0003558 IAO:0000115 Rhabdomyolysis induced by a viral infection Rhabdomyolysis induced by a viral infection NOT_TRANSLATED -en nl HP:0003559 rdfs:label Muscle hyperirritability Spier hyperirritabiliteit CANDIDATE -en nl HP:0003560 rdfs:label Muscular dystrophy Musculaire dystrofie CANDIDATE -en nl HP:0003560 IAO:0000115 The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities NOT_TRANSLATED -en nl HP:0003561 rdfs:label Birth length less than 3rd percentile Geboorte lengte kleiner dan 3e percentiel CANDIDATE -en nl HP:0003562 rdfs:label Abnormal metaphyseal vascular invasion Afwijkende metafysaire vasculaire invasie CANDIDATE -en nl HP:0003563 rdfs:label Decreased LDL cholesterol concentration Afgenomen niveau van circulerende low-density lipoproteïnen CANDIDATE -en nl HP:0003563 IAO:0000115 An decreased concentration of low-density lipoprotein cholesterol in the blood An decreased concentration of low-density lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0003564 rdfs:label Folate-dependent fragile site at Xq28 Folate-dependent fragile site at Xq28 NOT_TRANSLATED -en nl HP:0003564 IAO:0000115 The presence of a folate sensitive fragile site at chromosome Xq28 The presence of a folate sensitive fragile site at chromosome Xq28 NOT_TRANSLATED -en nl HP:0003565 rdfs:label Elevated erythrocyte sedimentation rate Toegenomen bezinkingssnelheid van de erytrocyten CANDIDATE -en nl HP:0003565 IAO:0000115 An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen NOT_TRANSLATED -en nl HP:0003566 rdfs:label Increased serum prostaglandin E2 Verhoogd serum prostaglandine E2 CANDIDATE -en nl HP:0003566 IAO:0000115 An increased concentration of prostaglandin E2 in the blood An increased concentration of prostaglandin E2 in the blood NOT_TRANSLATED -en nl HP:0003568 rdfs:label Decreased glucosephosphate isomerase level Verminderde glucosefosfaat isomerase activiteit CANDIDATE -en nl HP:0003568 IAO:0000115 A decreased level of glucose-6-phosphate isomerase A decreased level of glucose-6-phosphate isomerase NOT_TRANSLATED -en nl HP:0003570 rdfs:label Molybdenum cofactor deficiency Molybdeen co-factor deficiëntie CANDIDATE -en nl HP:0003570 IAO:0000115 Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase NOT_TRANSLATED -en nl HP:0003571 rdfs:label Propionic acidemia Propionacidurie CANDIDATE -en nl HP:0003571 IAO:0000115 Increased concentration of proprionic acid in the blood circulation Increased concentration of proprionic acid in the blood circulation NOT_TRANSLATED -en nl HP:0003572 rdfs:label Low plasma citrulline Verminderd plasma citrulline CANDIDATE -en nl HP:0003572 IAO:0000115 A decreased concentration of citrulline in the blood A decreased concentration of citrulline in the blood NOT_TRANSLATED -en nl HP:0003573 rdfs:label Increased total bilirubin Verhoog totaal bilirubine CANDIDATE -en nl HP:0003573 IAO:0000115 Increased concentration of total (conjugated and unconjugated) bilirubin in the blood Increased concentration of total (conjugated and unconjugated) bilirubin in the blood NOT_TRANSLATED -en nl HP:0003574 rdfs:label Positive regitine blocking test Positieve regitine test CANDIDATE -en nl HP:0003574 IAO:0000115 A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension NOT_TRANSLATED -en nl HP:0003575 rdfs:label Increased intracellular sodium Verhoogd intracellulair natrium CANDIDATE -en nl HP:0003575 IAO:0000115 An abnormally increased sodium concentration in the cytosol An abnormally increased sodium concentration in the cytosol NOT_TRANSLATED -en nl HP:0003577 rdfs:label Congenital onset Congenitale onset CANDIDATE -en nl HP:0003577 IAO:0000115 A phenotypic abnormality that is present at birth A phenotypic abnormality that is present at birth NOT_TRANSLATED -en nl HP:0003581 rdfs:label Adult onset Adult onset CANDIDATE -en nl HP:0003581 IAO:0000115 Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later NOT_TRANSLATED -en nl HP:0003584 rdfs:label Late onset Late onset CANDIDATE -en nl HP:0003584 IAO:0000115 A type of adult onset with onset of symptoms after the age of 60 years A type of adult onset with onset of symptoms after the age of 60 years NOT_TRANSLATED -en nl HP:0003587 rdfs:label Insidious onset Sluipende onset CANDIDATE -en nl HP:0003587 IAO:0000115 Gradual, very slow onset of disease manifestations Gradual, very slow onset of disease manifestations NOT_TRANSLATED -en nl HP:0003593 rdfs:label Infantile onset Infantiele onset CANDIDATE -en nl HP:0003593 IAO:0000115 Onset of signs or symptoms of disease between 28 days to one year of life Onset of signs or symptoms of disease between 28 days to one year of life NOT_TRANSLATED -en nl HP:0003596 rdfs:label Middle age onset Middelbare onset CANDIDATE -en nl HP:0003596 IAO:0000115 A type of adult onset with onset of symptoms at the age of 40 to 60 years A type of adult onset with onset of symptoms at the age of 40 to 60 years NOT_TRANSLATED -en nl HP:0003606 rdfs:label Absent urinary urothione Afwezig urine urothione CANDIDATE -en nl HP:0003606 IAO:0000115 Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine NOT_TRANSLATED -en nl HP:0003607 rdfs:label 4-hydroxyphenylacetic aciduria 4-hydroxyphenylacetic aciduria NOT_TRANSLATED -en nl HP:0003607 IAO:0000115 Increased concentration of 4-hydroxyphenylacetic acid in the urine Increased concentration of 4-hydroxyphenylacetic acid in the urine NOT_TRANSLATED -en nl HP:0003609 rdfs:label Foam cells with lamellar inclusion bodies Schuimcellen met lamellaire inclusielichaampjes CANDIDATE -en nl HP:0003609 IAO:0000115 The presence of foam cells that contain lamellar inclusion bodies The presence of foam cells that contain lamellar inclusion bodies NOT_TRANSLATED -en nl HP:0003610 rdfs:label Fibroblast metachromasia Fibroblast metachromasie CANDIDATE -en nl HP:0003610 IAO:0000115 Increased cytoplasmic staining of fibroblasts with toluidine blue Increased cytoplasmic staining of fibroblasts with toluidine blue NOT_TRANSLATED -en nl HP:0003612 rdfs:label Positive ferric chloride test Positieve ijzerchloride test CANDIDATE -en nl HP:0003612 IAO:0000115 If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood NOT_TRANSLATED -en nl HP:0003613 rdfs:label Antiphospholipid antibody positivity Antifosfolipiden antistoffen positiviteit CANDIDATE -en nl HP:0003613 IAO:0000115 The presence of circulating autoantibodies to phospholipids The presence of circulating autoantibodies to phospholipids NOT_TRANSLATED -en nl HP:0003614 rdfs:label Trimethylaminuria Trimethylaminurie CANDIDATE -en nl HP:0003614 IAO:0000115 Increased concentration of trimethylamine in the urine Increased concentration of trimethylamine in the urine NOT_TRANSLATED -en nl HP:0003616 rdfs:label Premature separation of centromeric heterochromatin Premature separatie van centromerisch heterochromatine CANDIDATE -en nl HP:0003621 rdfs:label Juvenile onset Juveniele onset CANDIDATE -en nl HP:0003621 IAO:0000115 Onset of signs or symptoms of disease between the age of 5 and 15 years Onset of signs or symptoms of disease between the age of 5 and 15 years NOT_TRANSLATED -en nl HP:0003623 rdfs:label Neonatal onset Neonatale onset CANDIDATE -en nl HP:0003623 IAO:0000115 Onset of signs or symptoms of disease within the first 28 days of life Onset of signs or symptoms of disease within the first 28 days of life NOT_TRANSLATED -en nl HP:0003634 rdfs:label Amyoplasia Amyoplasie CANDIDATE -en nl HP:0003634 IAO:0000115 Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue NOT_TRANSLATED -en nl HP:0003635 rdfs:label Loss of subcutaneous adipose tissue in limbs Verlies van subcutaan vetweefsel in ledematen CANDIDATE -en nl HP:0003635 IAO:0000115 Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg NOT_TRANSLATED -en nl HP:0003637 rdfs:label Reduced 4-Hydroxyphenylpyruvate dioxygenase level Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit CANDIDATE -en nl HP:0003637 IAO:0000115 An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level NOT_TRANSLATED -en nl HP:0003639 rdfs:label Elevated urinary epinephrine Verhoogd urinair epinefrine CANDIDATE -en nl HP:0003639 IAO:0000115 An increased concentration of adrenaline in the urine An increased concentration of adrenaline in the urine NOT_TRANSLATED -en nl HP:0003640 rdfs:label CNS foam cells Schuimcellen in viscerale organen en CZS CANDIDATE -en nl HP:0003640 IAO:0000115 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system NOT_TRANSLATED -en nl HP:0003641 rdfs:label Hemoglobinuria Hemoglobinurie CANDIDATE -en nl HP:0003641 IAO:0000115 The presence of free hemoglobin in the urine The presence of free hemoglobin in the urine NOT_TRANSLATED -en nl HP:0003642 rdfs:label Type I transferrin isoform profile Type 1 transferrine isoform profiel CANDIDATE -en nl HP:0003642 IAO:0000115 Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II NOT_TRANSLATED -en nl HP:0003643 rdfs:label Sulfite oxidase deficiency Sulfiet oxidase deficiëntie CANDIDATE -en nl HP:0003643 IAO:0000115 Abnormally reduced sulfite oxidase level Abnormally reduced sulfite oxidase level NOT_TRANSLATED -en nl HP:0003645 rdfs:label Prolonged partial thromboplastin time Verlenge partiële tromboplastinetijd CANDIDATE -en nl HP:0003645 IAO:0000115 Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms NOT_TRANSLATED -en nl HP:0003646 rdfs:label Bicarbonaturia Bicarbonaturie CANDIDATE -en nl HP:0003646 IAO:0000115 Abnormally increased concentration of hydrogencarbonate in the urine Abnormally increased concentration of hydrogencarbonate in the urine NOT_TRANSLATED -en nl HP:0003647 rdfs:label Electron transfer flavoprotein-ubiquinone oxidoreductase defect Electron transfer flavoprotein-ubiquinone oxidoreductase defect NOT_TRANSLATED -en nl HP:0003647 IAO:0000115 A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase NOT_TRANSLATED -en nl HP:0003648 rdfs:label Lacticaciduria Lactaatacidurie CANDIDATE -en nl HP:0003648 IAO:0000115 An increased concentration of lactic acid in the urine An increased concentration of lactic acid in the urine NOT_TRANSLATED -en nl HP:0003649 rdfs:label Abnormality of glycoside metabolism Afwijking van glycoside metabolisme CANDIDATE -en nl HP:0003649 IAO:0000115 Abnormality of glycoside metabolism Abnormality of glycoside metabolism NOT_TRANSLATED -en nl HP:0003651 rdfs:label Foam cells Schuimcellen CANDIDATE -en nl HP:0003651 IAO:0000115 The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance NOT_TRANSLATED -en nl HP:0003652 rdfs:label Recurrent myoglobinuria Recidiverende myoglobinurie CANDIDATE -en nl HP:0003652 IAO:0000115 Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue NOT_TRANSLATED -en nl HP:0003653 rdfs:label Cellular metachromasia Cellulaire metachromasie CANDIDATE -en nl HP:0003653 IAO:0000115 Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans NOT_TRANSLATED -en nl HP:0003654 rdfs:label Reduced dihydropyrimidine dehydrogenase level Verminderde dihydropyrimidine dehydrogenase activiteit CANDIDATE -en nl HP:0003654 IAO:0000115 An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level NOT_TRANSLATED -en nl HP:0003655 rdfs:label Reduced level of N-acetylglucosaminyltransferase II Verminderde activiteit van N-acetylglucosaminyltransferase II CANDIDATE -en nl HP:0003655 IAO:0000115 An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity NOT_TRANSLATED -en nl HP:0003656 rdfs:label Decreased beta-glucocerebrosidase level Verminderd beta-glucocerebrosidase eiwit en activiteit CANDIDATE -en nl HP:0003656 IAO:0000115 Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose NOT_TRANSLATED -en nl HP:0003657 rdfs:label Granular osmiophilic deposits (GROD) in cells Granular osmiophilic deposits (GROD) in cellen CANDIDATE -en nl HP:0003658 rdfs:label Hypomethioninemia Hypomethioninemie CANDIDATE -en nl HP:0003658 IAO:0000115 A decreased concentration of methionine in the blood A decreased concentration of methionine in the blood NOT_TRANSLATED -en nl HP:0003665 rdfs:label Amyotrophy of the musculature of the pelvis Amyotrofie van de bekkenmusculatuur CANDIDATE -en nl HP:0003665 IAO:0000115 Muscular atrophy affecting the muscles of the pelvis Muscular atrophy affecting the muscles of the pelvis NOT_TRANSLATED -en nl HP:0003674 rdfs:label Onset Onset CANDIDATE -en nl HP:0003674 IAO:0000115 The age group in which disease manifestations appear The age group in which disease manifestations appear NOT_TRANSLATED -en nl HP:0003676 rdfs:label Progressive Progressief CANDIDATE -en nl HP:0003676 IAO:0000115 Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age NOT_TRANSLATED -en nl HP:0003677 rdfs:label Slowly progressive Trage progressie CANDIDATE -en nl HP:0003677 IAO:0000115 Applies to a disease manifestation that only slowly increases in scope or severity over the course of time Applies to a disease manifestation that only slowly increases in scope or severity over the course of time NOT_TRANSLATED -en nl HP:0003678 rdfs:label Rapidly progressive Snel progressief CANDIDATE -en nl HP:0003678 IAO:0000115 Applies to a disease manifestation that quickly increases in scope or severity over the course of time Applies to a disease manifestation that quickly increases in scope or severity over the course of time NOT_TRANSLATED -en nl HP:0003679 rdfs:label Pace of progression Tempo van progressie CANDIDATE -en nl HP:0003680 rdfs:label Nonprogressive Niet-progressief CANDIDATE -en nl HP:0003680 IAO:0000115 Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age NOT_TRANSLATED -en nl HP:0003682 rdfs:label Variable progression rate Variabele mate van progressie CANDIDATE -en nl HP:0003682 IAO:0000115 Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another NOT_TRANSLATED -en nl HP:0003687 rdfs:label Centrally nucleated skeletal muscle fibers Centraal genucleëerde skeletspiervezels CANDIDATE -en nl HP:0003687 IAO:0000115 An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells) An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells) NOT_TRANSLATED -en nl HP:0003688 rdfs:label Cytochrome C oxidase-negative muscle fibers Cytochroom-C-oxidase negatieve spiervezels CANDIDATE -en nl HP:0003688 IAO:0000115 An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue NOT_TRANSLATED -en nl HP:0003689 rdfs:label Multiple mitochondrial DNA deletions Multipele deleties in mitochondriaal DNA CANDIDATE -en nl HP:0003689 IAO:0000115 The presence of multiple deletions of mitochondrial DNA (mtDNA) The presence of multiple deletions of mitochondrial DNA (mtDNA) NOT_TRANSLATED -en nl HP:0003690 rdfs:label Limb muscle weakness Spierzwakte van de ledematen CANDIDATE -en nl HP:0003690 IAO:0000115 Reduced strength and weakness of the muscles of the arms and legs Reduced strength and weakness of the muscles of the arms and legs NOT_TRANSLATED -en nl HP:0003691 rdfs:label Scapular winging Scapula alata CANDIDATE -en nl HP:0003691 IAO:0000115 Abnormal protrusion of the scapula away from the surface of the back Abnormal protrusion of the scapula away from the surface of the back NOT_TRANSLATED -en nl HP:0003693 rdfs:label Distal amyotrophy Distale amyotrofie CANDIDATE -en nl HP:0003693 IAO:0000115 Muscular atrophy affecting muscles in the distal portions of the extremities Muscular atrophy affecting muscles in the distal portions of the extremities NOT_TRANSLATED -en nl HP:0003694 rdfs:label Late-onset proximal muscle weakness Late-onset proximale spierzwakte CANDIDATE -en nl HP:0003694 IAO:0000115 Lack of strength of the proximal musculature occurring late in the clinical course Lack of strength of the proximal musculature occurring late in the clinical course NOT_TRANSLATED -en nl HP:0003696 rdfs:label Absent epiphysis of the distal phalanx of the 5th finger Afwezige epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0003696 IAO:0000115 Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0003697 rdfs:label Scapuloperoneal amyotrophy Scapuloperoneale amyotrofie CANDIDATE -en nl HP:0003697 IAO:0000115 Muscular atrophy in the distribution of shoulder girdle and peroneal muscles Muscular atrophy in the distribution of shoulder girdle and peroneal muscles NOT_TRANSLATED -en nl HP:0003698 rdfs:label Difficulty standing Moeite met staan CANDIDATE -en nl HP:0003700 rdfs:label Generalized amyotrophy Gegeneraliseerde amyotrofie CANDIDATE -en nl HP:0003700 IAO:0000115 Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles NOT_TRANSLATED -en nl HP:0003701 rdfs:label Proximal muscle weakness Proximale spierzwakte CANDIDATE -en nl HP:0003701 IAO:0000115 A lack of strength of the proximal muscles A lack of strength of the proximal muscles NOT_TRANSLATED -en nl HP:0003704 rdfs:label Scapuloperoneal weakness Scapuloperoneale zwakte CANDIDATE -en nl HP:0003707 rdfs:label Calf muscle pseudohypertrophy Kuitspier pseudohypertrofie CANDIDATE -en nl HP:0003707 IAO:0000115 Enlargement of the muscles of the calf due to their replacement by connective tissue or fat Enlargement of the muscles of the calf due to their replacement by connective tissue or fat NOT_TRANSLATED -en nl HP:0003710 rdfs:label Exercise-induced muscle cramps Inspanning-geïnduceerde spierkrampen CANDIDATE -en nl HP:0003710 IAO:0000115 Sudden and involuntary contractions of one or more muscles brought on by physical exertion Sudden and involuntary contractions of one or more muscles brought on by physical exertion NOT_TRANSLATED -en nl HP:0003712 rdfs:label Skeletal muscle hypertrophy Hypertrofie van de skeletspieren CANDIDATE -en nl HP:0003712 IAO:0000115 Abnormal increase in muscle size and mass not due to training Abnormal increase in muscle size and mass not due to training NOT_TRANSLATED -en nl HP:0003713 rdfs:label Muscle fiber necrosis Spiervezel necrose CANDIDATE -en nl HP:0003713 IAO:0000115 Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers NOT_TRANSLATED -en nl HP:0003715 rdfs:label Myofibrillar myopathy Myofibrillaire myopathie CANDIDATE -en nl HP:0003715 IAO:0000115 Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins NOT_TRANSLATED -en nl HP:0003716 rdfs:label Generalized muscular appearance from birth Gegeneraliseerd gespierd uiterlijk vanaf de geboorte CANDIDATE -en nl HP:0003717 rdfs:label Minimal subcutaneous fat Minimaal subcutaan vet CANDIDATE -en nl HP:0003719 rdfs:label Muscle mounding Muscle mounding NOT_TRANSLATED -en nl HP:0003719 IAO:0000115 Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds NOT_TRANSLATED -en nl HP:0003720 rdfs:label Generalized muscle hypertrophy Gegeneraliseerde spier hypertrofie CANDIDATE -en nl HP:0003720 IAO:0000115 Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution NOT_TRANSLATED -en nl HP:0003722 rdfs:label Neck flexor weakness Zwakte van nekflexoren CANDIDATE -en nl HP:0003722 IAO:0000115 Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior) Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior) NOT_TRANSLATED -en nl HP:0003724 rdfs:label Shoulder girdle muscle atrophy Atrofie van de spieren van de schoudergordel CANDIDATE -en nl HP:0003724 IAO:0000115 Amyotrophy affecting the muscles of the shoulder girdle Amyotrophy affecting the muscles of the shoulder girdle NOT_TRANSLATED -en nl HP:0003725 rdfs:label Firm muscles Stevige spieren CANDIDATE -en nl HP:0003729 rdfs:label Enteroviral dermatomyositis syndrome Enteroviraal dermatomyositis syndroom CANDIDATE -en nl HP:0003730 rdfs:label EMG: myotonic runs EMG: myotonic runs NOT_TRANSLATED -en nl HP:0003730 IAO:0000115 Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG) Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG) NOT_TRANSLATED -en nl HP:0003731 rdfs:label Quadriceps muscle weakness Quadriceps spierzwakte CANDIDATE -en nl HP:0003731 IAO:0000115 Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris) Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris) NOT_TRANSLATED -en nl HP:0003733 rdfs:label Thigh hypertrophy Dij hypertrofie CANDIDATE -en nl HP:0003733 IAO:0000115 Muscle hypertrophy affecting the thighs Muscle hypertrophy affecting the thighs NOT_TRANSLATED -en nl HP:0003736 rdfs:label Autophagic vacuoles Autofagische vacuolen CANDIDATE -en nl HP:0003736 IAO:0000115 The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue NOT_TRANSLATED -en nl HP:0003737 rdfs:label Mitochondrial myopathy Mitochondriale myopathie CANDIDATE -en nl HP:0003737 IAO:0000115 A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers NOT_TRANSLATED -en nl HP:0003738 rdfs:label Exercise-induced myalgia Inspanning-geïnduceerde myalgie CANDIDATE -en nl HP:0003738 IAO:0000115 The occurrence of an unusually high amount of muscle pain following exercise The occurrence of an unusually high amount of muscle pain following exercise NOT_TRANSLATED -en nl HP:0003739 rdfs:label Myoclonic spasms Myoclonische spasmen CANDIDATE -en nl HP:0003740 rdfs:label Myotonia with warm-up phenomenon Myotonie met warming-up fenomeen CANDIDATE -en nl HP:0003740 IAO:0000115 Myotonia that occurs after a period of rest and decreases with continuing exercise Myotonia that occurs after a period of rest and decreases with continuing exercise NOT_TRANSLATED -en nl HP:0003741 rdfs:label Congenital muscular dystrophy Congenitale spierdystrofie CANDIDATE -en nl HP:0003743 rdfs:label Genetic anticipation Genetische anticipatie CANDIDATE -en nl HP:0003743 IAO:0000115 A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations NOT_TRANSLATED -en nl HP:0003744 rdfs:label Genetic anticipation with paternal anticipation bias Genetische anticipatie met paternale anticipatie bias CANDIDATE -en nl HP:0003744 IAO:0000115 A type of genetic anticipation observed predominantly upon transmission from affected males A type of genetic anticipation observed predominantly upon transmission from affected males NOT_TRANSLATED -en nl HP:0003745 rdfs:label Sporadic Sporadisch CANDIDATE -en nl HP:0003745 IAO:0000115 Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected NOT_TRANSLATED -en nl HP:0003749 rdfs:label Pelvic girdle muscle weakness Bekkengordel spierzwakte CANDIDATE -en nl HP:0003749 IAO:0000115 Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis NOT_TRANSLATED -en nl HP:0003750 rdfs:label Increased muscle fatiguability Verhoogde spier vermoeidbaarheid CANDIDATE -en nl HP:0003750 IAO:0000115 An abnormal, increased fatiguability of the musculature An abnormal, increased fatiguability of the musculature NOT_TRANSLATED -en nl HP:0003752 rdfs:label Episodic flaccid weakness Episodische zwakke spierzwakte CANDIDATE -en nl HP:0003752 IAO:0000115 Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching NOT_TRANSLATED -en nl HP:0003755 rdfs:label Type 1 fibers relatively smaller than type 2 fibers Type 1 vezels relatief kleiner dan type 2 vezels CANDIDATE -en nl HP:0003755 IAO:0000115 The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers NOT_TRANSLATED -en nl HP:0003756 rdfs:label Skeletal myopathy Skeletale myopathie CANDIDATE -en nl HP:0003758 rdfs:label Reduced subcutaneous adipose tissue Verminderd subcutaan vetweefsel CANDIDATE -en nl HP:0003758 IAO:0000115 A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness NOT_TRANSLATED -en nl HP:0003759 rdfs:label Hypoplasia of lymphatic vessels Hypoplasie van lymfevaten CANDIDATE -en nl HP:0003759 IAO:0000115 Congenital underdevelopment of lymph vessels Congenital underdevelopment of lymph vessels NOT_TRANSLATED -en nl HP:0003760 rdfs:label Percussion-induced rapid rolling muscle contractions Percussion-induced rapid rolling muscle contractions NOT_TRANSLATED -en nl HP:0003760 IAO:0000115 Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle NOT_TRANSLATED -en nl HP:0003761 rdfs:label Calcinosis Calcinose CANDIDATE -en nl HP:0003761 IAO:0000115 Formation of calcium deposits in any soft tissue Formation of calcium deposits in any soft tissue NOT_TRANSLATED -en nl HP:0003762 rdfs:label Uterus didelphys Uterus didelphys CANDIDATE -en nl HP:0003762 IAO:0000115 A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis NOT_TRANSLATED -en nl HP:0003763 rdfs:label Bruxism Bruxisme CANDIDATE -en nl HP:0003763 IAO:0000115 Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake NOT_TRANSLATED -en nl HP:0003764 rdfs:label Nevus Naevus CANDIDATE -en nl HP:0003764 IAO:0000115 A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin NOT_TRANSLATED -en nl HP:0003765 rdfs:label Psoriasiform dermatitis Psoriasiforme dermatitis CANDIDATE -en nl HP:0003765 IAO:0000115 A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales) A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales) NOT_TRANSLATED -en nl HP:0003768 rdfs:label Periodic paralysis Periodieke paralyse CANDIDATE -en nl HP:0003768 IAO:0000115 Episodes of muscle weakness Episodes of muscle weakness NOT_TRANSLATED -en nl HP:0003771 rdfs:label Pulp calcification Pulp calcification NOT_TRANSLATED -en nl HP:0003771 IAO:0000115 Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies NOT_TRANSLATED -en nl HP:0003774 rdfs:label Stage 5 chronic kidney disease Stadium 5 chronische nierziekte CANDIDATE -en nl HP:0003774 IAO:0000115 A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine NOT_TRANSLATED -en nl HP:0003777 rdfs:label Pili torti Pili torti CANDIDATE -en nl HP:0003777 IAO:0000115 Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope NOT_TRANSLATED -en nl HP:0003778 rdfs:label Short mandibular rami Korte ramus mandibulae CANDIDATE -en nl HP:0003779 rdfs:label Antegonial notching of mandible Antegonial notching of mandible NOT_TRANSLATED -en nl HP:0003781 rdfs:label Excessive salivation Overmatige speekselvloed CANDIDATE -en nl HP:0003781 IAO:0000115 Excessive production of saliva Excessive production of saliva NOT_TRANSLATED -en nl HP:0003782 rdfs:label Eunuchoid habitus Eunuchoide habitus CANDIDATE -en nl HP:0003782 IAO:0000115 A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more) A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more) NOT_TRANSLATED -en nl HP:0003784 rdfs:label Type 1 collagen overmodification Type 1 collageen overmodificatie CANDIDATE -en nl HP:0003785 rdfs:label Decreased CSF homovanillic acid concentration Verlaagd liquor homovanille-zuur CANDIDATE -en nl HP:0003785 IAO:0000115 Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine NOT_TRANSLATED -en nl HP:0003787 rdfs:label Type 1 and type 2 muscle fiber minicore regions Type 1 en type 2 spiervezel minicore regio's CANDIDATE -en nl HP:0003787 IAO:0000115 Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers NOT_TRANSLATED -en nl HP:0003789 rdfs:label Minicore myopathy Minicore myopathie CANDIDATE -en nl HP:0003789 IAO:0000115 Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers NOT_TRANSLATED -en nl HP:0003791 rdfs:label Deposits immunoreactive to beta-amyloid protein Deposities immunoreactief tegen beta-amyloïd eiwit CANDIDATE -en nl HP:0003795 rdfs:label Short middle phalanx of toe Korte middelste falanx van teen CANDIDATE -en nl HP:0003795 IAO:0000115 Developmental hypoplasia (shortening) of middle phalanx of toe Developmental hypoplasia (shortening) of middle phalanx of toe NOT_TRANSLATED -en nl HP:0003796 rdfs:label Irregular iliac crest Onregelmatige crista iliaca CANDIDATE -en nl HP:0003796 IAO:0000115 Irregularity of the iliac crest, which is the superior border of the wing of the ilium Irregularity of the iliac crest, which is the superior border of the wing of the ilium NOT_TRANSLATED -en nl HP:0003797 rdfs:label Limb-girdle muscle atrophy Bekkengordel spieratrofie CANDIDATE -en nl HP:0003797 IAO:0000115 Muscular atrophy affecting the muscles of the limb girdle Muscular atrophy affecting the muscles of the limb girdle NOT_TRANSLATED -en nl HP:0003798 rdfs:label Nemaline bodies Nemaline lichamen CANDIDATE -en nl HP:0003798 IAO:0000115 Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces NOT_TRANSLATED -en nl HP:0003799 rdfs:label Marked delay in bone age Duidelijk achterlopende bot leeftijd CANDIDATE -en nl HP:0003800 rdfs:label Muscle abnormality related to mitochondrial dysfunction Spierafwijking vanwege mitochondriale dysfunctie CANDIDATE -en nl HP:0003803 rdfs:label Type 1 muscle fiber predominance Type 1 spiervezel overheersing CANDIDATE -en nl HP:0003803 IAO:0000115 An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy) An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy) NOT_TRANSLATED -en nl HP:0003805 rdfs:label Rimmed vacuoles Omrande vacuolen CANDIDATE -en nl HP:0003805 IAO:0000115 Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions NOT_TRANSLATED -en nl HP:0003808 rdfs:label Abnormal muscle tone Afwijkende spiertonus CANDIDATE -en nl HP:0003809 rdfs:label Reduced intrathoracic adipose tissue Verminderd intrathoracaal vetweefsel CANDIDATE -en nl HP:0003809 IAO:0000115 An abnormally reduced amount of adipose tissue in the thoracic cavity An abnormally reduced amount of adipose tissue in the thoracic cavity NOT_TRANSLATED -en nl HP:0003810 rdfs:label Late-onset distal muscle weakness Late-onset distale spierzwakte CANDIDATE -en nl HP:0003811 rdfs:label Neonatal death Neonatale dood CANDIDATE -en nl HP:0003811 IAO:0000115 Death within the first 28 days of life Death within the first 28 days of life NOT_TRANSLATED -en nl HP:0003812 rdfs:label Phenotypic variability Fenotypische variabiliteit CANDIDATE -en nl HP:0003812 IAO:0000115 A variability of phenotypic features A variability of phenotypic features NOT_TRANSLATED -en nl HP:0003819 rdfs:label Death in childhood Dood in jeugd CANDIDATE -en nl HP:0003819 IAO:0000115 Death in during childhood, defined here as between the ages of 2 and 10 years Death in during childhood, defined here as between the ages of 2 and 10 years NOT_TRANSLATED -en nl HP:0003826 rdfs:label Stillbirth Intra-uteriene vruchtdood CANDIDATE -en nl HP:0003826 IAO:0000115 Death of the fetus in utero after at least 22 weeks of gestation Death of the fetus in utero after at least 22 weeks of gestation NOT_TRANSLATED -en nl HP:0003828 rdfs:label Variable expressivity Variabele expressie CANDIDATE -en nl HP:0003828 IAO:0000115 A variable severity of phenotypic features A variable severity of phenotypic features NOT_TRANSLATED -en nl HP:0003829 rdfs:label Typified by incomplete penetrance Incomplete penetrantie CANDIDATE -en nl HP:0003829 IAO:0000115 Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years NOT_TRANSLATED -en nl HP:0003831 rdfs:label Typified by age-related disease onset Leeftijds-afhankelijke penetrantie CANDIDATE -en nl HP:0003831 IAO:0000115 Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject NOT_TRANSLATED -en nl HP:0003832 rdfs:label Abnormality of the tibial plateaux Afwijking van het plateau van de tibia CANDIDATE -en nl HP:0003833 rdfs:label Laterally deficient tibial plateaux Laterally deficient tibial plateaux NOT_TRANSLATED -en nl HP:0003834 rdfs:label Shoulder dislocation Schouder dislocatie CANDIDATE -en nl HP:0003834 IAO:0000115 A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation NOT_TRANSLATED -en nl HP:0003835 rdfs:label Shoulder subluxation Schouder subluxatie CANDIDATE -en nl HP:0003835 IAO:0000115 A partial dislocation of the shoulder joint A partial dislocation of the shoulder joint NOT_TRANSLATED -en nl HP:0003836 rdfs:label Stippled calcification of the shoulder Gespikkelde verkalking van de schouder CANDIDATE -en nl HP:0003837 rdfs:label Soft-tissue ossification around the shoulders Ossificatie van weke delen rond de schouders CANDIDATE -en nl HP:0003837 IAO:0000115 Formation of calcified tissue in the soft tissues surrounding the shoulder Formation of calcified tissue in the soft tissues surrounding the shoulder NOT_TRANSLATED -en nl HP:0003839 rdfs:label Abnormality of upper limb epiphysis morphology Afwijking van de epifyse van bovenste extremiteit morfologie CANDIDATE -en nl HP:0003840 rdfs:label Delayed upper limb epiphyseal ossification Vertraagde ossificatie van epifysen van bovenste ledematen CANDIDATE -en nl HP:0003840 IAO:0000115 A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs NOT_TRANSLATED -en nl HP:0003841 rdfs:label Fragmented epiphyses of the upper limbs Gefragmenteerde epifysen van de bovenste ledematen CANDIDATE -en nl HP:0003842 rdfs:label Irregular epiphyses of the upper limbs Irregulaire epifysen van bovenste ledematen CANDIDATE -en nl HP:0003843 rdfs:label Round epiphyses of the upper limbs Ronde epifysen van bovenste ledematen CANDIDATE -en nl HP:0003844 rdfs:label Small epiphyses of the upper limbs Small epifysen van bovenste ledematen CANDIDATE -en nl HP:0003846 rdfs:label Wide epiphyseal plates of the upper limbs Brede epifysaire platen van bovenste ledematen CANDIDATE -en nl HP:0003848 rdfs:label Cupped metaphyses of the upper limbs Cupped metaphyses of the upper limbs NOT_TRANSLATED -en nl HP:0003849 rdfs:label Flared upper limb metaphysis Flared upper limb metaphysis NOT_TRANSLATED -en nl HP:0003849 IAO:0000115 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm NOT_TRANSLATED -en nl HP:0003850 rdfs:label Upper-limb metaphyseal irregularity Metafysaire irregulariteit van bovenste ledematen CANDIDATE -en nl HP:0003851 rdfs:label Lytic defects in metaphyses of the upper limbs Lytische defecten in epifysen van bovenste ledematen CANDIDATE -en nl HP:0003852 rdfs:label Normal density transverse bands in metaphyses of the upper limbs Normale dichtheid van transversale banden in de metafysen van de bovenste extremiteiten CANDIDATE -en nl HP:0003853 rdfs:label Sclerosis with transverse striations in metaphyses of the upper limbs Sclerose met transverse strepen in epifysen van bovenste ledematen CANDIDATE -en nl HP:0003854 rdfs:label Sclerosis of metaphyses of the upper limbs Sclerose van metafysen van bovenste ledematen CANDIDATE -en nl HP:0003855 rdfs:label Spurred metaphyses of the upper limbs Spurred metaphyses of the upper limbs NOT_TRANSLATED -en nl HP:0003856 rdfs:label Upper limb metaphyseal widening Metafysaire verbreding in bovenste ledematen CANDIDATE -en nl HP:0003856 IAO:0000115 Increased width (breadth) of metaphyses of the arms Increased width (breadth) of metaphyses of the arms NOT_TRANSLATED -en nl HP:0003858 rdfs:label Cortical diaphyseal irregularity of the upper limbs Corticale diafysaire irregulariteit van bovenste ledematen CANDIDATE -en nl HP:0003859 rdfs:label Cortical diaphyseal thickening of the upper limbs Corticale diafysaire verdikking van bovenste ledematen CANDIDATE -en nl HP:0003860 rdfs:label Diaphyseal sclerosis of the upper limbs Diafysaire sclerose van bovenste ledematen CANDIDATE -en nl HP:0003860 IAO:0000115 An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0003861 rdfs:label Broad diaphyses of the upper limbs Brede diafysen van bovenste ledematen CANDIDATE -en nl HP:0003862 rdfs:label Absent humerus Afwezige humerus CANDIDATE -en nl HP:0003862 IAO:0000115 Missing humerus bone associated with congenital failure of development Missing humerus bone associated with congenital failure of development NOT_TRANSLATED -en nl HP:0003863 rdfs:label Angulated humerus Hoeige humerus CANDIDATE -en nl HP:0003864 rdfs:label Bifid humerus Bifide humerus CANDIDATE -en nl HP:0003864 IAO:0000115 Clefting affecting the humerus Clefting affecting the humerus NOT_TRANSLATED -en nl HP:0003865 rdfs:label Bowed humerus Gebogen humerus CANDIDATE -en nl HP:0003865 IAO:0000115 A bending or abnormal curvature of the humerus A bending or abnormal curvature of the humerus NOT_TRANSLATED -en nl HP:0003866 rdfs:label Coarse humeral trabeculae Grove trabeculae van humerus CANDIDATE -en nl HP:0003867 rdfs:label Humeral cortical irregularity Irregulariteit van cortex van de humerus CANDIDATE -en nl HP:0003868 rdfs:label Humeral cortical thickening Verdikking van cortex van de humerus CANDIDATE -en nl HP:0003869 rdfs:label Humeral cortical thinning Verdunning van cortex van de humerus CANDIDATE -en nl HP:0003870 rdfs:label Crumpled humerus Verfrommelde humerus CANDIDATE -en nl HP:0003871 rdfs:label Deformed humerus Misvormde humerus CANDIDATE -en nl HP:0003872 rdfs:label Humeral exostoses Exostosen van humerus CANDIDATE -en nl HP:0003872 IAO:0000115 Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage NOT_TRANSLATED -en nl HP:0003874 rdfs:label Humerus varus Humerus varus CANDIDATE -en nl HP:0003875 rdfs:label Humeral lytic defects Lytische defecten van humerus CANDIDATE -en nl HP:0003875 IAO:0000115 Destruction of an area of humerus bone due to a disease process, such as cancer Destruction of an area of humerus bone due to a disease process, such as cancer NOT_TRANSLATED -en nl HP:0003876 rdfs:label Osteoporotic humerus Osteoporotische humerus CANDIDATE -en nl HP:0003877 rdfs:label Oval transradiancy of humerus Oval transradiancy of humerus NOT_TRANSLATED -en nl HP:0003878 rdfs:label Periosteal new bone of humerus Periosteaal nieuw bot van humerus CANDIDATE -en nl HP:0003879 rdfs:label Humeral pseudarthrosis Pseudoartrose van humerus CANDIDATE -en nl HP:0003880 rdfs:label Sclerotic foci of the humerus Sclerotische foci van de humerus CANDIDATE -en nl HP:0003881 rdfs:label Humeral sclerosis Sclerose van humerus CANDIDATE -en nl HP:0003882 rdfs:label Slender humerus Slanke humerus CANDIDATE -en nl HP:0003882 IAO:0000115 Reduction in diameter of the humerus Reduction in diameter of the humerus NOT_TRANSLATED -en nl HP:0003883 rdfs:label Tapered humerus Tapered humerus NOT_TRANSLATED -en nl HP:0003884 rdfs:label Triangular humerus Driehoekige humerus CANDIDATE -en nl HP:0003885 rdfs:label Undermodeled humerus Undermodeled humerus NOT_TRANSLATED -en nl HP:0003886 rdfs:label Wide humerus Wijde humerus CANDIDATE -en nl HP:0003887 rdfs:label Abnormal humeral head morphology Afwijking van de humerus koppen CANDIDATE -en nl HP:0003888 rdfs:label Flattened humeral heads Afgevlakte humerus koppen CANDIDATE -en nl HP:0003889 rdfs:label Abnormal deltoid tuberosity morphology Afwijking van de tuberositas deltoidea CANDIDATE -en nl HP:0003890 rdfs:label Prominent deltoid tuberosities Prominente tuberositas deltoidea CANDIDATE -en nl HP:0003891 rdfs:label Abnormality of the humeral epiphysis Afwijking van de epifyse van de humerus CANDIDATE -en nl HP:0003891 IAO:0000115 An anomaly of the humeral epiphysis An anomaly of the humeral epiphysis NOT_TRANSLATED -en nl HP:0003892 rdfs:label Absent humeral epiphyseal ossification Afwezig epifysaire ossificatie van humerus CANDIDATE -en nl HP:0003892 IAO:0000115 Lack of formation of bone in the epiphysis of the humerus Lack of formation of bone in the epiphysis of the humerus NOT_TRANSLATED -en nl HP:0003893 rdfs:label Advanced ossification of the humeral epiphysis Geavanceerde ossificatie van de epifyse van de humerus CANDIDATE -en nl HP:0003893 IAO:0000115 Ossification of the humeral epiphysis at an earlier age than normal Ossification of the humeral epiphysis at an earlier age than normal NOT_TRANSLATED -en nl HP:0003894 rdfs:label Delayed humeral epiphyseal ossification Vertraagde epifysaire ossificatie van humerus CANDIDATE -en nl HP:0003894 IAO:0000115 A delay in the process of formation and maturation of the humeral epiphysis A delay in the process of formation and maturation of the humeral epiphysis NOT_TRANSLATED -en nl HP:0003895 rdfs:label Flattened humeral epiphyses Afgevlakte epifysen van de humerus CANDIDATE -en nl HP:0003896 rdfs:label Irregular humeral epiphyses Irregulaire epifysen van de humerus CANDIDATE -en nl HP:0003897 rdfs:label Irregular ossification of the humeral epiphyses Onregelmatige ossificatie van de epifysen van de humerus CANDIDATE -en nl HP:0003898 rdfs:label Large humeral epiphyses Grote epifysen van de humerus CANDIDATE -en nl HP:0003899 rdfs:label Round humeral epiphyses Ronde epifysen van de humerus CANDIDATE -en nl HP:0003900 rdfs:label Small humeral epiphyses Kleine epifysen van de humerus CANDIDATE -en nl HP:0003901 rdfs:label Stippled calcification of the humeral epiphyses Gespikkelde verkalking van de epifysen van de humerus CANDIDATE -en nl HP:0003902 rdfs:label Epiphyseal stippling of the humerus Epifsyaire vlekkerige calcificaties van de humerus CANDIDATE -en nl HP:0003902 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis NOT_TRANSLATED -en nl HP:0003903 rdfs:label Broad humeral epiphyses Brede epifysen van de humerus CANDIDATE -en nl HP:0003903 IAO:0000115 Increased width of the humeral epiphysis Increased width of the humeral epiphysis NOT_TRANSLATED -en nl HP:0003904 rdfs:label Wide epiphyses of the upper limbs Brede epifysen van de bovenste ledematen CANDIDATE -en nl HP:0003905 rdfs:label Abnormality of the humeral epiphyseal plate Afwijking epifysaire plaat van de humerus CANDIDATE -en nl HP:0003906 rdfs:label Broad humeral epiphyseal plate Brede epifysaire plaat van de humerus CANDIDATE -en nl HP:0003906 IAO:0000115 Increased width of the humeral epiphyseal growth plate Increased width of the humeral epiphyseal growth plate NOT_TRANSLATED -en nl HP:0003907 rdfs:label Abnormal humeral metaphysis morphology Afwijking metaphyses van de humerus CANDIDATE -en nl HP:0003908 rdfs:label Corner fracture of metaphysis Metafysaire hoekfractuur CANDIDATE -en nl HP:0003908 IAO:0000115 Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias NOT_TRANSLATED -en nl HP:0003909 rdfs:label Cortical subperiosteal resorption of humeral metaphyses Corticale subperiosteale resorptie van metafysen van de humerus CANDIDATE -en nl HP:0003910 rdfs:label Enlarged humeral metaphyses Vergrote metafysen van de humerus CANDIDATE -en nl HP:0003911 rdfs:label Flared humeral metaphysis Wijde uitlopende metafyse van de humerus CANDIDATE -en nl HP:0003911 IAO:0000115 Flaring (increase of width with a splayed appearance) of the humeral metaphysis Flaring (increase of width with a splayed appearance) of the humeral metaphysis NOT_TRANSLATED -en nl HP:0003912 rdfs:label Frayed humeral metaphyses Versleten metafysen van de humerus CANDIDATE -en nl HP:0003913 rdfs:label Humeral metaphyseal irregularity Irregulariteit van de metafyse van de humerus CANDIDATE -en nl HP:0003914 rdfs:label Irregular ossification of humeral metaphyses Irregulaire ossificatie van metaphysen van de humerus CANDIDATE -en nl HP:0003915 rdfs:label Lytic defects of the humeral metaphysis Lytische defecten van de metaphyse van de humerus CANDIDATE -en nl HP:0003916 rdfs:label Normal-density transverse humeral bands Normaal-dicht ligamentum transversum humeri CANDIDATE -en nl HP:0003917 rdfs:label Pointed humeral metaphysis Puntige metafyse van de humerus CANDIDATE -en nl HP:0003918 rdfs:label Sclerotic humeral metaphysis Sclerotische metafyse van de humerus CANDIDATE -en nl HP:0003919 rdfs:label Sclerotic humeral metaphysis with longitudinal striations Sclerotische metafyse van humerus met longitudinale strepen CANDIDATE -en nl HP:0003920 rdfs:label Sloping humeral metaphysis Aflopende metafyse van de humerus CANDIDATE -en nl HP:0003921 rdfs:label Laterally sloping humeral metaphysis Lateraal aflopende metafyse van de humerus CANDIDATE -en nl HP:0003922 rdfs:label Spurred humeral metaphysis Spurred humeral metaphysis NOT_TRANSLATED -en nl HP:0003923 rdfs:label Square humeral metaphysis Vierkante metafyse van de humerus CANDIDATE -en nl HP:0003924 rdfs:label Stippled calcification of humeral metaphysis Gespikkelde verkalking van metafyse van de humerus CANDIDATE -en nl HP:0003926 rdfs:label Abnormal humeral diaphysis morphology Afwijking van de diafyse van de humerus CANDIDATE -en nl HP:0003926 IAO:0000115 An anomaly of the humeral diaphysis An anomaly of the humeral diaphysis NOT_TRANSLATED -en nl HP:0003927 rdfs:label Cortical irregularity of humeral diaphysis Corticale irregulariteit van diafyse van de humerus CANDIDATE -en nl HP:0003927 IAO:0000115 An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus NOT_TRANSLATED -en nl HP:0003928 rdfs:label Cortical thickening of humeral diaphysis Corticale verdikking van diafyse van humerus CANDIDATE -en nl HP:0003929 rdfs:label Ground glass opacity of humeral diaphysis Ground glass opacity of humeral diaphysis NOT_TRANSLATED -en nl HP:0003930 rdfs:label Lytic defects of humeral diaphysis Lytische defecten van diafyse van humerus CANDIDATE -en nl HP:0003931 rdfs:label Periosteal new bone of humeral diaphysis Periosteaal nieuw bot van diafyse van humerus CANDIDATE -en nl HP:0003932 rdfs:label Sclerotic foci of humeral diaphysis Sclerotische foci van diafyse van humerus CANDIDATE -en nl HP:0003933 rdfs:label Sclerosis of humeral diaphysis Sclerose van diafyse van humerus CANDIDATE -en nl HP:0003934 rdfs:label Slender humeral diaphysis Slanke diafyse van humerus CANDIDATE -en nl HP:0003935 rdfs:label Wide humeral diaphysis Brede diafyse van humerus CANDIDATE -en nl HP:0003935 IAO:0000115 Increased width of the humeral diaphysis Increased width of the humeral diaphysis NOT_TRANSLATED -en nl HP:0003938 rdfs:label Synostosis involving the elbow Synostose waarbij de elleboog betrokken is CANDIDATE -en nl HP:0003939 rdfs:label Humeroulnar synostosis Humero-ulnaire synostose CANDIDATE -en nl HP:0003939 IAO:0000115 An abnormal osseous union (fusion) between the ulna and the humerus An abnormal osseous union (fusion) between the ulna and the humerus NOT_TRANSLATED -en nl HP:0003940 rdfs:label Osteoarthritis of the elbow Osteoartritis van de elleboog CANDIDATE -en nl HP:0003941 rdfs:label Stippled calcification of the elbow Gespikkelde verkalking van de elleboog CANDIDATE -en nl HP:0003942 rdfs:label Synovial chondromatosis of the elbow Synoviale chondromatose van de elleboog CANDIDATE -en nl HP:0003943 rdfs:label Abnormality of the joint spaces of the elbow Afwijking van het gewrichtsspleten van de elleboog CANDIDATE -en nl HP:0003944 rdfs:label Narrow joint spaces of the elbow Smalle gewrichtsspleten van de elleboog CANDIDATE -en nl HP:0003945 rdfs:label Irregular articular surfaces of the elbow joints Irregulaire gewrichtsoppervlakken van de gewrichten van de elleboog CANDIDATE -en nl HP:0003946 rdfs:label Abnormality of the epiphyses of the elbow Afwijking van de epifysen van de elleboog CANDIDATE -en nl HP:0003947 rdfs:label Delayed elbow epiphyseal ossification Vertraagde ossificatie van epifyse van elleboog CANDIDATE -en nl HP:0003947 IAO:0000115 A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow NOT_TRANSLATED -en nl HP:0003948 rdfs:label Irregular epiphyses of the elbow Irregulaire epifysen van de elleboog CANDIDATE -en nl HP:0003949 rdfs:label Abnormal elbow metaphysis morphology Afwijking van de metafysen van de elleboog CANDIDATE -en nl HP:0003950 rdfs:label Flared elbow metaphyses Wijd uitlopende metafysen van de elleboog CANDIDATE -en nl HP:0003951 rdfs:label Distal humeral metaphyseal irregularity Distale metafyse van humerus onregelmatigheid CANDIDATE -en nl HP:0003951 IAO:0000115 Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow) Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow) NOT_TRANSLATED -en nl HP:0003952 rdfs:label Sclerotic foci of metaphyses of the elbow Sclerotische foci van metaphysen van de elleboog CANDIDATE -en nl HP:0003953 rdfs:label Absent forearm bone Afwezig bot van onderarm CANDIDATE -en nl HP:0003953 IAO:0000115 Absence of one or more forearm bones associated with congenital failure of development Absence of one or more forearm bones associated with congenital failure of development NOT_TRANSLATED -en nl HP:0003954 rdfs:label Angulated forearm bones Hoekige onderarm botten CANDIDATE -en nl HP:0003955 rdfs:label Bone-in-a-bone appearance of forearm Bot-in-bot in onderarm CANDIDATE -en nl HP:0003955 IAO:0000115 A descriptive term for a forearm bone that appears to have an additional bone within it on radiography A descriptive term for a forearm bone that appears to have an additional bone within it on radiography NOT_TRANSLATED -en nl HP:0003956 rdfs:label Bowed forearm bones Gebogen botten van onderarm CANDIDATE -en nl HP:0003956 IAO:0000115 A bending or abnormal curvature affecting either the radius, the ulna, or both A bending or abnormal curvature affecting either the radius, the ulna, or both NOT_TRANSLATED -en nl HP:0003957 rdfs:label Cortical thickening of the forearm bones Corticale verdikking van de botten van onderarm CANDIDATE -en nl HP:0003958 rdfs:label Cross-fusion of the forearm bones Cross-fusie van de onderarm botten CANDIDATE -en nl HP:0003959 rdfs:label Deformed forearm bones Misvormde botten van onderarm CANDIDATE -en nl HP:0003960 rdfs:label Exostoses of the forearm bones Exostosen van botten van onderarm CANDIDATE -en nl HP:0003961 rdfs:label Fractured forearm bones Gebroken botten van onderarm CANDIDATE -en nl HP:0003961 IAO:0000115 Bone fracture in the radius, ulna, or wrist Bone fracture in the radius, ulna, or wrist NOT_TRANSLATED -en nl HP:0003963 rdfs:label Lytic defects of the forearm bones Lytische defecten van botten van ondearm CANDIDATE -en nl HP:0003964 rdfs:label Osteoporotic forearm bones Osteoporotische botten van onderarm CANDIDATE -en nl HP:0003965 rdfs:label Pseudarthrosis of the forearm bones Pseudoartrose van de botten van onderarm CANDIDATE -en nl HP:0003966 rdfs:label Sclerotic foci in forearm bones Sclerotische foci in botten van onderarm CANDIDATE -en nl HP:0003967 rdfs:label Sclerotic forearm bones Sclerotische botten van onderarm CANDIDATE -en nl HP:0003969 rdfs:label Slender forearm bones Slanke botten van onderarm CANDIDATE -en nl HP:0003970 rdfs:label Undermodelled forearm bones Undermodelled forearm bones NOT_TRANSLATED -en nl HP:0003971 rdfs:label Broad forearm bones Brede botten van onderarm CANDIDATE -en nl HP:0003971 IAO:0000115 Abnormally wide bone of the skeleton of forearm Abnormally wide bone of the skeleton of forearm NOT_TRANSLATED -en nl HP:0003973 rdfs:label Wide radioulnar joints Brede radioulnair gewrichten CANDIDATE -en nl HP:0003974 rdfs:label Absent radius Afwezige radius CANDIDATE -en nl HP:0003974 IAO:0000115 Missing radius bone associated with congenital failure of development Missing radius bone associated with congenital failure of development NOT_TRANSLATED -en nl HP:0003976 rdfs:label Constricted radius Vernauwde radius CANDIDATE -en nl HP:0003977 rdfs:label Deformed radius Misvormde radius CANDIDATE -en nl HP:0003978 rdfs:label Fractured radius Gebroken radius CANDIDATE -en nl HP:0003979 rdfs:label Lytic defects of the radius Lytische defecten van de radius CANDIDATE -en nl HP:0003980 rdfs:label Pseudarthrosis of the radius Pseudoartrose van de radius CANDIDATE -en nl HP:0003981 rdfs:label Broad radius Brede radius CANDIDATE -en nl HP:0003981 IAO:0000115 Increased width of the radius Increased width of the radius NOT_TRANSLATED -en nl HP:0003982 rdfs:label Aplasia of the ulna Aplasie van de ulna CANDIDATE -en nl HP:0003982 IAO:0000115 Missing ulna bone associated with congenital failure of development Missing ulna bone associated with congenital failure of development NOT_TRANSLATED -en nl HP:0003984 rdfs:label Posteriorly dislocated ulna Naar posterieur gedisloceerde ulna CANDIDATE -en nl HP:0003985 rdfs:label Exostoses of the ulna Exostosen van de ulna CANDIDATE -en nl HP:0003986 rdfs:label Exostoses of the radius Exostosen van de radius CANDIDATE -en nl HP:0003987 rdfs:label Fractured ulna Gebroken ulna CANDIDATE -en nl HP:0003988 rdfs:label Long ulna Lange ulna CANDIDATE -en nl HP:0003988 IAO:0000115 Increased length of the ulna Increased length of the ulna NOT_TRANSLATED -en nl HP:0003989 rdfs:label Notched ulna Ingekeepte ulna CANDIDATE -en nl HP:0003990 rdfs:label Pointed ulna Puntige ulna CANDIDATE -en nl HP:0003991 rdfs:label Osteosclerosis of the ulna Osteosclerose van de ulna CANDIDATE -en nl HP:0003991 IAO:0000115 Osteosclerosis (increased density related to increased bone mass) of the ulna Osteosclerosis (increased density related to increased bone mass) of the ulna NOT_TRANSLATED -en nl HP:0003992 rdfs:label Slender ulna Slanke ulna CANDIDATE -en nl HP:0003992 IAO:0000115 Reduction in diameter of the ulna Reduction in diameter of the ulna NOT_TRANSLATED -en nl HP:0003993 rdfs:label Broad ulna Brede ulna CANDIDATE -en nl HP:0003993 IAO:0000115 Increased width of the ulna Increased width of the ulna NOT_TRANSLATED -en nl HP:0003994 rdfs:label Dislocated wrist Gedisloceerde pols CANDIDATE -en nl HP:0003994 IAO:0000115 An injury of the wrist with displacement of any of the eight carpal bones An injury of the wrist with displacement of any of the eight carpal bones NOT_TRANSLATED -en nl HP:0003995 rdfs:label Abnormality of the radial head Afwijking van de caput radialis CANDIDATE -en nl HP:0003996 rdfs:label Flattened radial head Afgevlakt caput radialis CANDIDATE -en nl HP:0003997 rdfs:label Hypoplastic radial head Hypoplastisch caput radialis CANDIDATE -en nl HP:0003998 rdfs:label Constricted radial neck Vernauwde adiushals CANDIDATE -en nl HP:0003999 rdfs:label Abnormality of radial epiphyses Afwijking van epifysen van de radius CANDIDATE -en nl HP:0004000 rdfs:label Cone-shaped distal radial epiphysis Kegel-vormige distale epifyse van radius CANDIDATE -en nl HP:0004000 IAO:0000115 The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance NOT_TRANSLATED -en nl HP:0004001 rdfs:label Medially deficient radial epiphyses Mediaal deficiënte epifysen van de radius CANDIDATE -en nl HP:0004002 rdfs:label Flattened radial epiphyses Afgevlakte epifysen van de radius CANDIDATE -en nl HP:0004003 rdfs:label Medially flattened radial epiphyses Mediaal afgevlakte epifysen van de radius CANDIDATE -en nl HP:0004004 rdfs:label Irregular radial epiphyses Irregulaire epifysen van de radius CANDIDATE -en nl HP:0004005 rdfs:label Large radial epiphyses Grote epifysen van de radius CANDIDATE -en nl HP:0004006 rdfs:label Round radial epiphyses Ronde epifysen van de radius CANDIDATE -en nl HP:0004007 rdfs:label Sclerotic radial epiphyses Sclerotische epifysen van de radius CANDIDATE -en nl HP:0004008 rdfs:label Sloping radial epiphyses Sloping radial epiphyses NOT_TRANSLATED -en nl HP:0004009 rdfs:label Medially sloping radial epiphyses Medially sloping radial epiphyses NOT_TRANSLATED -en nl HP:0004010 rdfs:label Small radial epiphyses Kleine epifysen van de radius CANDIDATE -en nl HP:0004012 rdfs:label Premature fusion of the radial epiphyseal plates Prematuur fusie van de epifysaire platen van de radius CANDIDATE -en nl HP:0004012 IAO:0000115 A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone NOT_TRANSLATED -en nl HP:0004013 rdfs:label Medially fused radial epiphyseal plates Mediaal gefuseerde eifysaire platen van de radius CANDIDATE -en nl HP:0004014 rdfs:label Broad radial epiphyseal plate Brede epifysaire plaat van de radius CANDIDATE -en nl HP:0004014 IAO:0000115 Abnormal increase in width of the epiphyseal growth plate of the radius Abnormal increase in width of the epiphyseal growth plate of the radius NOT_TRANSLATED -en nl HP:0004015 rdfs:label Abnormal radial metaphysis morphology Afwijking van metafysen van de radius CANDIDATE -en nl HP:0004016 rdfs:label Cupped radial metaphyses Cupped radial metaphyses NOT_TRANSLATED -en nl HP:0430006 rdfs:label Ectopic cilia of eyelid Ectopische cilia van ooglid CANDIDATE -en nl HP:0430006 IAO:0000115 An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid NOT_TRANSLATED -en nl HP:0004017 rdfs:label Exostoses of the radial metaphysis Exostosen van de metafyse van de radius CANDIDATE -en nl HP:0430007 rdfs:label Symblepharon Symblepharon CANDIDATE -en nl HP:0430007 IAO:0000115 A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball NOT_TRANSLATED -en nl HP:0004018 rdfs:label Flared radial metaphysis Wijd uitlopende metafyse van de radius CANDIDATE -en nl HP:0004018 IAO:0000115 The presence of a splayed (i.e.,flared) metaphyseal segment of the radius The presence of a splayed (i.e.,flared) metaphyseal segment of the radius NOT_TRANSLATED -en nl HP:0430004 rdfs:label Frontomalar faciosynostosis Frontomalaire faciosynostose CANDIDATE -en nl HP:0004019 rdfs:label Radial metaphyseal irregularity Metafysaire onregelmatigheid van de radius CANDIDATE -en nl HP:0004019 IAO:0000115 Irregularity of the normally smooth surface of the metaphysis of the radius Irregularity of the normally smooth surface of the metaphysis of the radius NOT_TRANSLATED -en nl HP:0430005 rdfs:label Abnormal ethmoid bone morphology Afwijking van os ethmoidale CANDIDATE -en nl HP:0430005 IAO:0000115 An abnormality of the ethmoid bone An abnormality of the ethmoid bone NOT_TRANSLATED -en nl HP:0004020 rdfs:label Irregular ossification of the radial metaphysis Irregulaire ossificatie van de metafyse van de radius CANDIDATE -en nl HP:0430002 rdfs:label Abnormal lacrimal bone morphology Afwijking van het os lacrimale CANDIDATE -en nl HP:0430002 IAO:0000115 An abnormality of the lacrimal bone An abnormality of the lacrimal bone NOT_TRANSLATED -en nl HP:0004021 rdfs:label Lytic defects of radial metaphysis Lytische gebreken van metafyse van de radius CANDIDATE -en nl HP:0430003 rdfs:label Abnormal palatine bone morphology Afwijking van het os palatinum CANDIDATE -en nl HP:0430003 IAO:0000115 An abnormality of the palatine bone An abnormality of the palatine bone NOT_TRANSLATED -en nl HP:0004022 rdfs:label Sclerotic radial metaphysis with longitudinal striations Sclerotische metafyse van de radius met longitudinale strepen CANDIDATE -en nl HP:0430000 rdfs:label Abnormal frontal bone morphology Afwijking van os frontale CANDIDATE -en nl HP:0430000 IAO:0000115 An abnormality of the frontal bone An abnormality of the frontal bone NOT_TRANSLATED -en nl HP:0004023 rdfs:label Sloping radial metaphysis Sloping radial metaphysis NOT_TRANSLATED -en nl HP:0004024 rdfs:label Medially sloping radial metaphysis Medially sloping radial metaphysis NOT_TRANSLATED -en nl HP:0430014 rdfs:label Abnormality of musculature of soft palate Afwijking van musculatuur van zachte gehemelte CANDIDATE -en nl HP:0430014 IAO:0000115 An abnormality of one or more of the five muscles of the soft palate An abnormality of one or more of the five muscles of the soft palate NOT_TRANSLATED -en nl HP:0004025 rdfs:label Spurred radial metaphysis Spurred radial metaphysis NOT_TRANSLATED -en nl HP:0430015 rdfs:label Abnormal morphology of musculature of pharynx Afwijking van musculatuur van farynx CANDIDATE -en nl HP:0430015 IAO:0000115 An abnormality of any of the muscles of the pharynx An abnormality of any of the muscles of the pharynx NOT_TRANSLATED -en nl HP:0004026 rdfs:label Broad radial metaphysis Brede metafyse van de radius CANDIDATE -en nl HP:0004026 IAO:0000115 Increase in width (breadth) of the radial metaphysis Increase in width (breadth) of the radial metaphysis NOT_TRANSLATED -en nl HP:0430012 rdfs:label Incomplete ossification of palatine bone Incomplete ossificatie van os palatinum CANDIDATE -en nl HP:0430012 IAO:0000115 Failure to complete ossification (maturation and calcification) of the palatine bone Failure to complete ossification (maturation and calcification) of the palatine bone NOT_TRANSLATED -en nl HP:0004027 rdfs:label Abnormality of radial diaphysis Afwijking van diafyse van de radius CANDIDATE -en nl HP:0004027 IAO:0000115 An anomaly of the radial diaphysis An anomaly of the radial diaphysis NOT_TRANSLATED -en nl HP:0430013 rdfs:label Absent palatine bone ossification Afwezige ossificatie van os palatinum CANDIDATE -en nl HP:0430013 IAO:0000115 Lack of formation of the palatine bone Lack of formation of the palatine bone NOT_TRANSLATED -en nl HP:0004028 rdfs:label Spurs of radial diaphysis Uitlopers van diafyse van de radius CANDIDATE -en nl HP:0430010 rdfs:label Microblepharia Microblefarie CANDIDATE -en nl HP:0430010 IAO:0000115 Abnormal shortness of the vertical dimensions of the eyelids Abnormal shortness of the vertical dimensions of the eyelids NOT_TRANSLATED -en nl HP:0004029 rdfs:label Lytic defects of radial diaphysis Lytische defecten van diafyse van de radius CANDIDATE -en nl HP:0430011 rdfs:label Defect of palpebral conjunctiva Defect van palpebrale conjunctiva CANDIDATE -en nl HP:0430011 IAO:0000115 An abnormality of the palpebral conjunctiva An abnormality of the palpebral conjunctiva NOT_TRANSLATED -en nl HP:0004030 rdfs:label Patchy sclerosis of radial diaphysis Fragmentarische sclerose van diafyse van de radius CANDIDATE -en nl HP:0430008 rdfs:label Accessory eyelid Extra ooglid CANDIDATE -en nl HP:0430008 IAO:0000115 The presence of more than the normal number of eyelids The presence of more than the normal number of eyelids NOT_TRANSLATED -en nl HP:0004031 rdfs:label Broad radial diaphysis Brede diafyse van de radius CANDIDATE -en nl HP:0004031 IAO:0000115 Increase in width of the diaphysis of radius Increase in width of the diaphysis of radius NOT_TRANSLATED -en nl HP:0430009 rdfs:label Hypoplasia of eyelid Hypoplasie van ooglid CANDIDATE -en nl HP:0430009 IAO:0000115 Developmental hypoplasia of the eyelid Developmental hypoplasia of the eyelid NOT_TRANSLATED -en nl HP:0004032 rdfs:label Abnormal olecranon morphology Afwijking van het olecranon CANDIDATE -en nl HP:0004032 IAO:0000115 Any structural abnormality of the olecranon, a bony eminence of the proximal ulna Any structural abnormality of the olecranon, a bony eminence of the proximal ulna NOT_TRANSLATED -en nl HP:0430022 rdfs:label Abnormality of the sphenoid sinus Afwijking van de sinus sphenoidalis CANDIDATE -en nl HP:0430022 IAO:0000115 An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone NOT_TRANSLATED -en nl HP:0004033 rdfs:label Curved olecranon Gebogen olecranon CANDIDATE -en nl HP:0430023 rdfs:label Abnormality of the maxillary sinus Afwijking van de maxillaire sinus CANDIDATE -en nl HP:0430023 IAO:0000115 An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity NOT_TRANSLATED -en nl HP:0004034 rdfs:label Irregular olecranon Irregulair olecranon CANDIDATE -en nl HP:0430020 rdfs:label Abnormality of levator labii superioris alaeque nasi muscle Afwijking van de musculus levator labii superioris alaeque nasi CANDIDATE -en nl HP:0430020 IAO:0000115 An abnormality of the levator labii superioris alaeque nasi muscle An abnormality of the levator labii superioris alaeque nasi muscle NOT_TRANSLATED -en nl HP:0004035 rdfs:label Abnormal ulnar styloid process morphology Afwijking van het processus styloideus van ulna CANDIDATE -en nl HP:0430021 rdfs:label Abnormal common carotid artery morphology Afwijkende ateria carotis communis morfologie CANDIDATE -en nl HP:0430021 IAO:0000115 An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery NOT_TRANSLATED -en nl HP:0004036 rdfs:label Long styloid process of ulna Lang processus styloideus ulnae CANDIDATE -en nl HP:0430018 rdfs:label Abnormality of nasal musculature Afwijking van nasale musculatuur CANDIDATE -en nl HP:0430018 IAO:0000115 An abnormality of the muscles of the structure of the nose An abnormality of the muscles of the structure of the nose NOT_TRANSLATED -en nl HP:0004037 rdfs:label Abnormal ulnar epiphysis morphology Afwijking van de ulnaire epifysen CANDIDATE -en nl HP:0430019 rdfs:label Abnormality of muscle of facial expression Afwijking van spier van gelaatsuitdrukking CANDIDATE -en nl HP:0430019 IAO:0000115 An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression NOT_TRANSLATED -en nl HP:0430016 rdfs:label Abnormality of tensor veli palatini muscle Afwijking van musculus tensor veli palatini CANDIDATE -en nl HP:0430016 IAO:0000115 An abnormality of the tensor veli palatini muscle An abnormality of the tensor veli palatini muscle NOT_TRANSLATED -en nl HP:0004039 rdfs:label Abnormal ulnar metaphysis morphology Afwijking van metafyse van de ulna CANDIDATE -en nl HP:0004039 IAO:0000115 Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis NOT_TRANSLATED -en nl HP:0430017 rdfs:label Abnormality of uvular muscle Afwijking van musculus uvulae CANDIDATE -en nl HP:0430017 IAO:0000115 An abnormality of the uvular muscle An abnormality of the uvular muscle NOT_TRANSLATED -en nl HP:0004040 rdfs:label Corner fragments of ulnar metaphysis Hoek fragmenten van metafyse van ulna CANDIDATE -en nl HP:0004041 rdfs:label Cupped ulnar metaphysis Cupped ulnar metaphysis NOT_TRANSLATED -en nl HP:0004042 rdfs:label Ulnar metaphyseal irregularity Irregulariteit van de metafyse van de ulna CANDIDATE -en nl HP:0004042 IAO:0000115 Irregularity of the normally smooth surface of the metaphysis of the ulna Irregularity of the normally smooth surface of the metaphysis of the ulna NOT_TRANSLATED -en nl HP:0430028 rdfs:label Hyperplasia of the maxilla Hyperplasie van de maxilla CANDIDATE -en nl HP:0430028 IAO:0000115 Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla NOT_TRANSLATED -en nl HP:0004043 rdfs:label Lytic defects of ulnar metaphysis Lytische gebreken van metafyse van de ulna CANDIDATE -en nl HP:0430029 rdfs:label Hyperplasia of the premaxilla Hyperplasie van de premaxilla CANDIDATE -en nl HP:0430029 IAO:0000115 An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures NOT_TRANSLATED -en nl HP:0004044 rdfs:label Pointed ulnar metaphysis Puntige metafyse van de ulna CANDIDATE -en nl HP:0004045 rdfs:label Sloping ulnar metaphysis Sloping ulnar metaphysis NOT_TRANSLATED -en nl HP:0004045 IAO:0000115 A sloped configuration of the metaphysis (shaft) of the ulna A sloped configuration of the metaphysis (shaft) of the ulna NOT_TRANSLATED -en nl HP:0004046 rdfs:label Spurred ulnar metaphysis Spurred ulnar metaphysis NOT_TRANSLATED -en nl HP:0430024 rdfs:label Abnormality of external jugular vein Afwijking van vena jugularis externa CANDIDATE -en nl HP:0430024 IAO:0000115 An abnormality of an external jugular vein of the neck An abnormality of an external jugular vein of the neck NOT_TRANSLATED -en nl HP:0004047 rdfs:label Wide ulnar metaphysis Wijde metafyse van de ulna CANDIDATE -en nl HP:0004047 IAO:0000115 Increase in width (breadth) of the ulnar metaphysis Increase in width (breadth) of the ulnar metaphysis NOT_TRANSLATED -en nl HP:0430025 rdfs:label Bilateral facial palsy Bilaterale facialis parese CANDIDATE -en nl HP:0430025 IAO:0000115 Two-sided or bilateral weakness of the muscles of facial expression and eye closure Two-sided or bilateral weakness of the muscles of facial expression and eye closure NOT_TRANSLATED -en nl HP:0004048 rdfs:label Narrow joint spaces of wrist Smalle gewrichtsspleten van de pols CANDIDATE -en nl HP:0004049 rdfs:label Decreased carpal angles of wrist Decreased carpal angles of wrist NOT_TRANSLATED -en nl HP:0004050 rdfs:label Absent hand Afwezige hand CANDIDATE -en nl HP:0004050 IAO:0000115 The total absence of the hand, with no bony elements distal to the radius or ulna The total absence of the hand, with no bony elements distal to the radius or ulna NOT_TRANSLATED -en nl HP:0004051 rdfs:label Advanced ossification of the hand bones Geavanceerde ossificatie van de botten van de hand CANDIDATE -en nl HP:0004051 IAO:0000115 Ossification of hand bones at an earlier age than normal Ossification of hand bones at an earlier age than normal NOT_TRANSLATED -en nl HP:0004052 rdfs:label Delayed ossification of the hand bones Vertraagde ossificatie van de botten van de hand CANDIDATE -en nl HP:0004052 IAO:0000115 Ossification of hand bones is less advanced than would be expected according to age-adjusted norms Ossification of hand bones is less advanced than would be expected according to age-adjusted norms NOT_TRANSLATED -en nl HP:0004053 rdfs:label Dysharmonic maturation of the hand bones Dysharmonische rijping van de botten van de hand CANDIDATE -en nl HP:0004053 IAO:0000115 Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand NOT_TRANSLATED -en nl HP:0004054 rdfs:label Sclerosis of hand bone Sclerose van hand bot CANDIDATE -en nl HP:0004054 IAO:0000115 Osteosclerosis affecting one or more bones of the hand Osteosclerosis affecting one or more bones of the hand NOT_TRANSLATED -en nl HP:0004057 rdfs:label Mitten deformity Mitten deformity NOT_TRANSLATED -en nl HP:0004057 IAO:0000115 "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a ""mitten"" hand deformity" "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a ""mitten"" hand deformity" NOT_TRANSLATED -en nl HP:0004058 rdfs:label Hand monodactyly Hand monodactylie CANDIDATE -en nl HP:0004059 rdfs:label Radial club hand Radial club hand CANDIDATE -en nl HP:0004059 IAO:0000115 Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius NOT_TRANSLATED -en nl HP:0004060 rdfs:label Trident hand Trident hand NOT_TRANSLATED -en nl HP:0004060 IAO:0000115 A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits NOT_TRANSLATED -en nl HP:0004095 rdfs:label Curved fingers Gebogen vingers CANDIDATE -en nl HP:0004097 rdfs:label Deviation of finger Deviatie van vinger CANDIDATE -en nl HP:0004097 IAO:0000115 Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges NOT_TRANSLATED -en nl HP:0004099 rdfs:label Macrodactyly Macrodactylie CANDIDATE -en nl HP:0004099 IAO:0000115 Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit NOT_TRANSLATED -en nl HP:0004100 rdfs:label Abnormal 2nd finger morphology Afwijking van de 2e vinger CANDIDATE -en nl HP:0004100 IAO:0000115 An anomaly of the second finger, also known as the index finger An anomaly of the second finger, also known as the index finger NOT_TRANSLATED -en nl HP:0004112 rdfs:label Midline nasal groove Nasale groef in de middellijn CANDIDATE -en nl HP:0004112 IAO:0000115 An abnormal groove on the midline of the nose that may extend to the nasal tip An abnormal groove on the midline of the nose that may extend to the nasal tip NOT_TRANSLATED -en nl HP:0004122 rdfs:label Midline defect of the nose Middellijn defect van de neus CANDIDATE -en nl HP:0004122 IAO:0000115 This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip NOT_TRANSLATED -en nl HP:0004132 rdfs:label Dimple on nasal tip Dimpel op neuspunt CANDIDATE -en nl HP:0004132 IAO:0000115 An abnormal indentation of the skin in the region of the nasal tip An abnormal indentation of the skin in the region of the nasal tip NOT_TRANSLATED -en nl HP:0004150 rdfs:label Abnormal 3rd finger morphology Afwijking van de 3e vinger CANDIDATE -en nl HP:0004150 IAO:0000115 An anomaly of the third finger An anomaly of the third finger NOT_TRANSLATED -en nl HP:0004172 rdfs:label Abnormality of the middle phalanx of the 3rd finger Afwijking van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0004180 rdfs:label Short distal phalanx of the 3rd finger Korte distale falanx van de 3e vinger CANDIDATE -en nl HP:0004180 IAO:0000115 Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger NOT_TRANSLATED -en nl HP:0004188 rdfs:label Abnormal 4th finger morphology Afwijking van de 4e vinger CANDIDATE -en nl HP:0004195 rdfs:label Osteolytic defects of the phalanges of the 4th finger Osteolytische defecten van de falangen van de 4e vinger CANDIDATE -en nl HP:0004195 IAO:0000115 Osteolytic defects of the phalanges of the 4th (ring) finger Osteolytic defects of the phalanges of the 4th (ring) finger NOT_TRANSLATED -en nl HP:0004197 rdfs:label Symphalangism of the 4th finger Symfalangisme van de 4e vinger CANDIDATE -en nl HP:0004197 IAO:0000115 Fusion of two or more bones of the 4th finger Fusion of two or more bones of the 4th finger NOT_TRANSLATED -en nl HP:0004207 rdfs:label Abnormal 5th finger morphology Afwijking van de 5e vinger CANDIDATE -en nl HP:0004207 IAO:0000115 An abnormality affecting one or both 5th fingers An abnormality affecting one or both 5th fingers NOT_TRANSLATED -en nl HP:0004209 rdfs:label Clinodactyly of the 5th finger Clinodactylie van de 5e vinger CANDIDATE -en nl HP:0004209 IAO:0000115 Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger) Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger) NOT_TRANSLATED -en nl HP:0004213 rdfs:label Abnormal 5th finger phalanx morphology Afwijking van de falangen van de 5e vinger CANDIDATE -en nl HP:0004213 IAO:0000115 Abnormality of the phalanges of the 5th (little) finger Abnormality of the phalanges of the 5th (little) finger NOT_TRANSLATED -en nl HP:0004214 rdfs:label Curved phalanges of the 5th finger Gebogen falangen van de 5e vinger CANDIDATE -en nl HP:0004214 IAO:0000115 Curved phalanges of the 5th (little) finger Curved phalanges of the 5th (little) finger NOT_TRANSLATED -en nl HP:0004216 rdfs:label Osteolytic defects of the phalanges of the 5th finger Osteolytisch defect van de falangen van de 5e vinger CANDIDATE -en nl HP:0004216 IAO:0000115 Dissolution or degeneration of bone tissue of the phalanges of the 5th finger Dissolution or degeneration of bone tissue of the phalanges of the 5th finger NOT_TRANSLATED -en nl HP:0004218 rdfs:label Symphalangism of the 5th finger Symfalangisme van de 5e vinger CANDIDATE -en nl HP:0004218 IAO:0000115 Fusion of two or more bones of the 5th finger Fusion of two or more bones of the 5th finger NOT_TRANSLATED -en nl HP:0004219 rdfs:label Abnormality of the middle phalanx of the 5th finger Afwijking van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0004220 rdfs:label Short middle phalanx of the 5th finger Korte middelste falanx van de 5e vinger CANDIDATE -en nl HP:0004220 IAO:0000115 Hypoplastic/small middle phalanx of the fifth finger Hypoplastic/small middle phalanx of the fifth finger NOT_TRANSLATED -en nl HP:0004222 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 5th finger Kegel-vormige epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0004222 IAO:0000115 A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0004223 rdfs:label Ivory epiphysis of the distal phalanx of the 5th finger Ivoren epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0004223 IAO:0000115 Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0004224 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 5th finger Afwijking van de epiphysis van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0004224 IAO:0000115 Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED -en nl HP:0004225 rdfs:label Abnormality of the distal phalanx of the 5th finger Afwijking van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0004225 IAO:0000115 Abnormality of the distal phalanx of the 5th (little) finger Abnormality of the distal phalanx of the 5th (little) finger NOT_TRANSLATED -en nl HP:0004226 rdfs:label Curved distal phalanx of the 5th finger Gebogen distale falanx van de 5e vinger CANDIDATE -en nl HP:0004226 IAO:0000115 Curved appearance of the distal phalanx of the 5th (little) finger Curved appearance of the distal phalanx of the 5th (little) finger NOT_TRANSLATED -en nl HP:0004227 rdfs:label Short distal phalanx of the 5th finger Korte distale falanx van de 5e vinger CANDIDATE -en nl HP:0004227 IAO:0000115 Hypoplastic/small distal phalanx of the fifth finger Hypoplastic/small distal phalanx of the fifth finger NOT_TRANSLATED -en nl HP:0004230 rdfs:label Subluxation of the proximal interphalangeal joint of the little finger Subluxatie van het proximale interfalangeale gewricht van de kleine vinger CANDIDATE -en nl HP:0004230 IAO:0000115 A partial dislocation of the proximal interphalangeal joint of the little finger A partial dislocation of the proximal interphalangeal joint of the little finger NOT_TRANSLATED -en nl HP:0004231 rdfs:label Carpal bone aplasia Aplasie van de carpale botten CANDIDATE -en nl HP:0004231 IAO:0000115 Congenital absence of a carpal bone Congenital absence of a carpal bone NOT_TRANSLATED -en nl HP:0004232 rdfs:label Accessory carpal bones Accessoire carpale botten CANDIDATE -en nl HP:0004232 IAO:0000115 The presence of more than the normal number of carpal bones The presence of more than the normal number of carpal bones NOT_TRANSLATED -en nl HP:0004233 rdfs:label Advanced ossification of carpal bones Geavanceerde ossificatie van carpale botten CANDIDATE -en nl HP:0004233 IAO:0000115 Ossification of carpal bones at an abnormally early age Ossification of carpal bones at an abnormally early age NOT_TRANSLATED -en nl HP:0004234 rdfs:label Bone-in-a-bone appearance of carpal bones Bot-in-a-bot uiterlijk van carpale botten CANDIDATE -en nl HP:0004234 IAO:0000115 The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones NOT_TRANSLATED -en nl HP:0004235 rdfs:label Comma-shaped carpal bones Comma-vormige carpale botten CANDIDATE -en nl HP:0004236 rdfs:label Irregular carpal bones Irregulaire carpale botten CANDIDATE -en nl HP:0004236 IAO:0000115 Carpal bones with irregular or fragmented margins Carpal bones with irregular or fragmented margins NOT_TRANSLATED -en nl HP:0004237 rdfs:label Large carpal bones Grote carpale botten CANDIDATE -en nl HP:0004237 IAO:0000115 Increased size of carpal bones Increased size of carpal bones NOT_TRANSLATED -en nl HP:0004238 rdfs:label Lytic defects of carpal bones Lytische defecten van carpale botten CANDIDATE -en nl HP:0004239 rdfs:label Proximally placed carpal bones Proximaal geplaatste carpale botten CANDIDATE -en nl HP:0004240 rdfs:label Sclerotic foci within carpal bones Sclerotische foci in carpale botten CANDIDATE -en nl HP:0004241 rdfs:label Stippled calcification in carpal bones Gespikkelde verkalking van de carpale botten CANDIDATE -en nl HP:0004241 IAO:0000115 Point-shaped (punctate) calcifications affecting the carpal bones Point-shaped (punctate) calcifications affecting the carpal bones NOT_TRANSLATED -en nl HP:0004242 rdfs:label Broad carpal bones Brede carpale botten CANDIDATE -en nl HP:0004243 rdfs:label Abnormality of the scaphoid Afwijking van het scaphoid CANDIDATE -en nl HP:0004244 rdfs:label Accessory scaphoid Extra scafoïd CANDIDATE -en nl HP:0004245 rdfs:label Comma-shaped scaphoid Comma-vormig scafoïd CANDIDATE -en nl HP:0004246 rdfs:label Delayed ossification of the scaphoid Vertraagde ossificatie van het scafoïd CANDIDATE -en nl HP:0004246 IAO:0000115 Formation of bone tissue of scaphoid is less than expected for age Formation of bone tissue of scaphoid is less than expected for age NOT_TRANSLATED -en nl HP:0004247 rdfs:label Small scaphoid Klein scaphoid CANDIDATE -en nl HP:0004247 IAO:0000115 Underdevelopment of the scaphoid Underdevelopment of the scaphoid NOT_TRANSLATED -en nl HP:0004248 rdfs:label Abnormality of the lunate bone Afwijking van het os lunatum CANDIDATE -en nl HP:0004249 rdfs:label Accessory lunate Accessoire os lunatum CANDIDATE -en nl HP:0004250 rdfs:label Proximally placed lunate Proximaal geplaatst os lunatum CANDIDATE -en nl HP:0004251 rdfs:label Lunate-triquetral fusion Lunatum-triquetrum fusie CANDIDATE -en nl HP:0004251 IAO:0000115 Osseous fusion of the lunate and triquetrum Osseous fusion of the lunate and triquetrum NOT_TRANSLATED -en nl HP:0004252 rdfs:label Abnormality of the trapezium Afwijking van het trapezium CANDIDATE -en nl HP:0004252 IAO:0000115 An anomaly of trapezium An anomaly of trapezium NOT_TRANSLATED -en nl HP:0004253 rdfs:label Absent trapezium Afwezig trapezium CANDIDATE -en nl HP:0004254 rdfs:label Delayed ossification of the trapezium Vertraagde ossificatie van het trapezium CANDIDATE -en nl HP:0004254 IAO:0000115 Formation of bone tissue of trapezium is less than expected for age Formation of bone tissue of trapezium is less than expected for age NOT_TRANSLATED -en nl HP:0004255 rdfs:label Small trapezium Klein trapezium CANDIDATE -en nl HP:0004255 IAO:0000115 Underdevelopment of the trapezium Underdevelopment of the trapezium NOT_TRANSLATED -en nl HP:0004256 rdfs:label Abnormality of the trapezoid bone Afwijking van het os trapezium CANDIDATE -en nl HP:0004257 rdfs:label Delayed ossification of the trapezoid bone Vertraagde ossificatie van het os trapezium CANDIDATE -en nl HP:0004257 IAO:0000115 Formation of bone tissue of trapezoid is less than expected for age Formation of bone tissue of trapezoid is less than expected for age NOT_TRANSLATED -en nl HP:0004258 rdfs:label Small trapezoid bone Klein os trapezium CANDIDATE -en nl HP:0004258 IAO:0000115 Underdevelopment of the trapezoid Underdevelopment of the trapezoid NOT_TRANSLATED -en nl HP:0004259 rdfs:label Abnormality of the hamate bone Afwijking van het os hamatum CANDIDATE -en nl HP:0004260 rdfs:label Large hamate bone Groot os hamatum CANDIDATE -en nl HP:0004261 rdfs:label Wide hamate bone Breed os hamatum CANDIDATE -en nl HP:0004262 rdfs:label Abnormality of the capitate bone Afwijking van het os capitatum CANDIDATE -en nl HP:0004263 rdfs:label Large capitate bone Groot os capitatum CANDIDATE -en nl HP:0004264 rdfs:label Narrow carpal joint spaces Smalle carpale gewrichtsspleet CANDIDATE -en nl HP:0004267 rdfs:label Narrow small joints of the hand Smalle kleine gewrichten van de hand CANDIDATE -en nl HP:0004268 rdfs:label Osteoarthritis of the small joints of the hand Osteoartritis van de kleine gewrichten van de hand CANDIDATE -en nl HP:0004269 rdfs:label Subluxation of the small joints of the hand Subluxatie van de kleine gewrichten van de hand CANDIDATE -en nl HP:0004269 IAO:0000115 A partial dislocation of some or all of the small joints of the hand A partial dislocation of some or all of the small joints of the hand NOT_TRANSLATED -en nl HP:0004271 rdfs:label Cortical thickening of hand bones Corticale verdikking van hand botten CANDIDATE -en nl HP:0004272 rdfs:label Cortical thinning of hand bones Corticale verdunning van botten van de hand CANDIDATE -en nl HP:0004273 rdfs:label Cupped metaphyses of hand bones Cupped metaphyses of hand bones NOT_TRANSLATED -en nl HP:0004274 rdfs:label Deficient ossification of hand bones Gebrekkige ossificatie van hand botten CANDIDATE -en nl HP:0004275 rdfs:label Duplication of hand bones Duplicatie van hand botten CANDIDATE -en nl HP:0004276 rdfs:label Exostoses of hand bones Exostosen van hand botten CANDIDATE -en nl HP:0004276 IAO:0000115 Abnormal formation of new bone on the surface of a bone of the hand Abnormal formation of new bone on the surface of a bone of the hand NOT_TRANSLATED -en nl HP:0004277 rdfs:label Fractured hand bones Gebroken hand botten CANDIDATE -en nl HP:0004278 rdfs:label Synostosis involving bones of the hand Synostose waarbij de botten van de voeten betrokken zijn CANDIDATE -en nl HP:0004278 IAO:0000115 An abnormal union between bones or parts of bones of the hand An abnormal union between bones or parts of bones of the hand NOT_TRANSLATED -en nl HP:0004279 rdfs:label Short palm Korte handpalm CANDIDATE -en nl HP:0004279 IAO:0000115 Short palm Short palm NOT_TRANSLATED -en nl HP:0004280 rdfs:label Irregular ossification of hand bones Irregulaire ossificatie van hand botten CANDIDATE -en nl HP:0004281 rdfs:label Irregular sclerosis of hand bones Irregulaire sclerose van hand botten CANDIDATE -en nl HP:0004283 rdfs:label Narrow palm Smalle handpalm CANDIDATE -en nl HP:0004283 IAO:0000115 For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length NOT_TRANSLATED -en nl HP:0004284 rdfs:label Notched hand bones Ingekeepte hand botten CANDIDATE -en nl HP:0004285 rdfs:label Overmodelled hand bones Overmodelled hand bones NOT_TRANSLATED -en nl HP:0004286 rdfs:label Patchy sclerosis of hand bones Fragmentarische sclerose van hand botten CANDIDATE -en nl HP:0004287 rdfs:label Pointed hand bones Puntige hand botten CANDIDATE -en nl HP:0004288 rdfs:label Pseudoepiphyses of hand bones Pseudo-epifysen van hand botten CANDIDATE -en nl HP:0004289 rdfs:label Sclerotic foci in hand bones Sclerotische foci in hand botten CANDIDATE -en nl HP:0004290 rdfs:label Sclerosis of hand bones with transverse striations Sclerose van hand botten met dwarse strepen CANDIDATE -en nl HP:0004291 rdfs:label Stippled calcification of hand bones Gespikkelde verkalking van de botten van de hand CANDIDATE -en nl HP:0004292 rdfs:label Undermodelled hand bones Undermodelled hand bones NOT_TRANSLATED -en nl HP:0004293 rdfs:label Synostosis of second metacarpal-trapezoid Synostose van tweede metacarpaal-os trapezium CANDIDATE -en nl HP:0004293 IAO:0000115 Fusion of the second metacarpal-trapezoid Fusion of the second metacarpal-trapezoid NOT_TRANSLATED -en nl HP:0004294 rdfs:label Subluxation of metacarpal phalangeal joints Subluxatie van metacarpale-falangeale gewrichten CANDIDATE -en nl HP:0004294 IAO:0000115 A partial dislocation affecting some or all of the metacarpophalangeal joints A partial dislocation affecting some or all of the metacarpophalangeal joints NOT_TRANSLATED -en nl HP:0004295 rdfs:label Abnormal gastric mucosa morphology Afwijking van het maagslijmvlies CANDIDATE -en nl HP:0004295 IAO:0000115 An abnormality of the gastric mucous membrane An abnormality of the gastric mucous membrane NOT_TRANSLATED -en nl HP:0004296 rdfs:label Abnormal gastrointestinal vascular morphology Afwijking van gastro-intestinale vasculatuur CANDIDATE -en nl HP:0004297 rdfs:label Abnormality of the biliary system Afwijking van de gal systeem CANDIDATE -en nl HP:0004297 IAO:0000115 An abnormality of the biliary system An abnormality of the biliary system NOT_TRANSLATED -en nl HP:0004298 rdfs:label Abnormality of the abdominal wall Afwijking van de buikwand CANDIDATE -en nl HP:0004298 IAO:0000115 The presence of any abnormality affecting the abdominal wall The presence of any abnormality affecting the abdominal wall NOT_TRANSLATED -en nl HP:0004299 rdfs:label Hernia of the abdominal wall Hernia van de buikwand CANDIDATE -en nl HP:0004299 IAO:0000115 The presence of a hernia in the abdominal wall The presence of a hernia in the abdominal wall NOT_TRANSLATED -en nl HP:0004302 rdfs:label Functional motor deficit Functioneel motorisch tekort CANDIDATE -en nl HP:0004303 rdfs:label Abnormal muscle fiber morphology Afwijking van spiervezels CANDIDATE -en nl HP:0004303 IAO:0000115 Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers NOT_TRANSLATED -en nl HP:0004305 rdfs:label Involuntary movements Onwillekeurige bewegingen CANDIDATE -en nl HP:0004305 IAO:0000115 Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face NOT_TRANSLATED -en nl HP:0004306 rdfs:label Abnormal endocardium morphology Afwijkende endocard morfologie CANDIDATE -en nl HP:0004306 IAO:0000115 An abnormality of the endocardium An abnormality of the endocardium NOT_TRANSLATED -en nl HP:0004307 rdfs:label Abnormal anatomic location of the heart Afwijkende anatomische locatie van het hart CANDIDATE -en nl HP:0004307 IAO:0000115 Developmental defect characterized by an anomalous anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart NOT_TRANSLATED -en nl HP:0004308 rdfs:label Ventricular arrhythmia Ventriculaire aritmie CANDIDATE -en nl HP:0004309 rdfs:label Ventricular preexcitation Ventriculaire pre-excitatie CANDIDATE -en nl HP:0004309 IAO:0000115 An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway NOT_TRANSLATED -en nl HP:0004311 rdfs:label Abnormal macrophage morphology Afwijkende macrofaag morfologie CANDIDATE -en nl HP:0004311 IAO:0000115 An abnormality of macrophages An abnormality of macrophages NOT_TRANSLATED -en nl HP:0004312 rdfs:label Abnormal reticulocyte morphology Afwijking van reticulocyten CANDIDATE -en nl HP:0004312 IAO:0000115 A reticulocyte abnormality A reticulocyte abnormality NOT_TRANSLATED -en nl HP:0004313 rdfs:label Decreased circulating antibody level Verminderd antistoffen niveau in bloed CANDIDATE -en nl HP:0004313 IAO:0000115 An abnormally decreased level of immunoglobulin in blood An abnormally decreased level of immunoglobulin in blood NOT_TRANSLATED -en nl HP:0004315 rdfs:label Decreased circulating IgG level IgG deficiëntie CANDIDATE -en nl HP:0004315 IAO:0000115 An abnormally decreased level of immunoglobulin G (IgG) in blood An abnormally decreased level of immunoglobulin G (IgG) in blood NOT_TRANSLATED -en nl HP:0004319 rdfs:label Decreased circulating aldosterone level Verminderd circulerend aldosteron niveau CANDIDATE -en nl HP:0004319 IAO:0000115 Abnormally reduced levels of aldosterone Abnormally reduced levels of aldosterone NOT_TRANSLATED -en nl HP:0004320 rdfs:label Vaginal fistula Vaginale fistel CANDIDATE -en nl HP:0004320 IAO:0000115 The presence of a fistula of the vagina The presence of a fistula of the vagina NOT_TRANSLATED -en nl HP:0004321 rdfs:label Bladder fistula Blaas fistel CANDIDATE -en nl HP:0004321 IAO:0000115 The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin NOT_TRANSLATED -en nl HP:0004322 rdfs:label Short stature Kleine lengte CANDIDATE -en nl HP:0004322 IAO:0000115 "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to ""short stature"" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)" "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to ""short stature"" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)" NOT_TRANSLATED -en nl HP:0004323 rdfs:label Abnormality of body weight Afwijking van het lichaamsgewicht CANDIDATE -en nl HP:0004323 IAO:0000115 An abnormal increase or decrease of weight or an abnormal distribution of mass in the body An abnormal increase or decrease of weight or an abnormal distribution of mass in the body NOT_TRANSLATED -en nl HP:0004324 rdfs:label Increased body weight Toegenomen lichaamsgewicht CANDIDATE -en nl HP:0004324 IAO:0000115 Abnormally increased body weight Abnormally increased body weight NOT_TRANSLATED -en nl HP:0004325 rdfs:label Decreased body weight Verminderd lichaamsgewicht CANDIDATE -en nl HP:0004325 IAO:0000115 Abnormally low body weight Abnormally low body weight NOT_TRANSLATED -en nl HP:0004326 rdfs:label Cachexia Cachexie CANDIDATE -en nl HP:0004326 IAO:0000115 Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease NOT_TRANSLATED -en nl HP:0004327 rdfs:label Abnormal vitreous humor morphology Afwijkende glasvocht morfologie CANDIDATE -en nl HP:0004327 IAO:0000115 Any structural anomaly of the vitreous body Any structural anomaly of the vitreous body NOT_TRANSLATED -en nl HP:0004328 rdfs:label Abnormal anterior eye segment morphology Afwijking van het anterieure segment van de oogbol CANDIDATE -en nl HP:0004328 IAO:0000115 An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) NOT_TRANSLATED -en nl HP:0004329 rdfs:label Abnormal posterior eye segment morphology Afwijkende morfologie van het achterste segment van de oogbol CANDIDATE -en nl HP:0004330 rdfs:label Increased skull ossification Verhoogde schedel ossificatie CANDIDATE -en nl HP:0004330 IAO:0000115 An increase in the magnitude or amount of ossification of the skull An increase in the magnitude or amount of ossification of the skull NOT_TRANSLATED -en nl HP:0004331 rdfs:label Decreased skull ossification Verminderde schedel ossificatie CANDIDATE -en nl HP:0004331 IAO:0000115 A reduction in the magnitude or amount of ossification of the skull A reduction in the magnitude or amount of ossification of the skull NOT_TRANSLATED -en nl HP:0004332 rdfs:label Abnormal lymphocyte morphology Afwijkende lymfocyten morfologie CANDIDATE -en nl HP:0004332 IAO:0000115 An abnormality of lymphocytes An abnormality of lymphocytes NOT_TRANSLATED -en nl HP:0004333 rdfs:label Bone-marrow foam cells Beenmerg schuimcellen CANDIDATE -en nl HP:0004333 IAO:0000115 The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance NOT_TRANSLATED -en nl HP:0004334 rdfs:label Dermal atrophy Dermale atrofie CANDIDATE -en nl HP:0004334 IAO:0000115 Partial or complete wasting (atrophy) of the skin Partial or complete wasting (atrophy) of the skin NOT_TRANSLATED -en nl HP:0004336 rdfs:label Myelin outfoldings Myelin outfoldings NOT_TRANSLATED -en nl HP:0004336 IAO:0000115 The presence of excessive redundant myelin in the peripheral nerve sheath The presence of excessive redundant myelin in the peripheral nerve sheath NOT_TRANSLATED -en nl HP:0004337 rdfs:label Abnormality of amino acid metabolism Afwijking van het aminozuur metabolisme CANDIDATE -en nl HP:0004337 IAO:0000115 Abnormality of an amino acid metabolic process Abnormality of an amino acid metabolic process NOT_TRANSLATED -en nl HP:0004338 rdfs:label Abnormal circulating aromatic amino acid concentration Afwijking van metabolisme van de aromatische aminozuur familie CANDIDATE -en nl HP:0004338 IAO:0000115 Any deviation from the normal concentration of a aromatic amino acid in the blood circulation Any deviation from the normal concentration of a aromatic amino acid in the blood circulation NOT_TRANSLATED -en nl HP:0004339 rdfs:label Abnormal circulating sulfur amino acid concentration Afwijking van zwavel aminozuur metabolisme CANDIDATE -en nl HP:0004339 IAO:0000115 Any deviation from the normal concentration of a sulfur amino acid in the blood circulation Any deviation from the normal concentration of a sulfur amino acid in the blood circulation NOT_TRANSLATED -en nl HP:0004340 rdfs:label Abnormality of vitamin B metabolism Afwijking van het metabolisme van vitamine B CANDIDATE -en nl HP:0004341 rdfs:label Abnormality of vitamin B12 metabolism Afwijking van het metabolisme van vitamine B12 CANDIDATE -en nl HP:0004342 rdfs:label Abnormality of galactoside metabolism Afwijking van het galactoside metabolisme CANDIDATE -en nl HP:0004342 IAO:0000115 Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose NOT_TRANSLATED -en nl HP:0004343 rdfs:label Abnormal glycosphingolipid metabolism Afwijking van het glycosfingolipide metabolisme CANDIDATE -en nl HP:0004343 IAO:0000115 An abnormality of glycosphingolipid metabolism An abnormality of glycosphingolipid metabolism NOT_TRANSLATED -en nl HP:0004344 rdfs:label Abnormality of cerebrosidase metabolism Afwijking van het cerebrosidase metabolisme CANDIDATE -en nl HP:0004345 rdfs:label Ganglioside accumulation Afwijking van het ganglioside metabolisme CANDIDATE -en nl HP:0004345 IAO:0000115 Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease) Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease) NOT_TRANSLATED -en nl HP:0004347 rdfs:label Weakness of muscles of respiration Zwakte van spieren van de ademhaling CANDIDATE -en nl HP:0004347 IAO:0000115 Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles NOT_TRANSLATED -en nl HP:0004348 rdfs:label Abnormality of bone mineral density Afwijking van de minerale botdichtheid CANDIDATE -en nl HP:0004348 IAO:0000115 This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ NOT_TRANSLATED -en nl HP:0004349 rdfs:label Reduced bone mineral density Verminderde botdichtheid CANDIDATE -en nl HP:0004349 IAO:0000115 A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones NOT_TRANSLATED -en nl HP:0004352 rdfs:label Abnormal circulating purine concentration Afwijking van purine-metabolisme CANDIDATE -en nl HP:0004352 IAO:0000115 Any deviation from the normal concentration of a purine in the blood circulation Any deviation from the normal concentration of a purine in the blood circulation NOT_TRANSLATED -en nl HP:0004353 rdfs:label Abnormal circulating pyrimidine concentration Afwijking van pyrimidine metabolisme CANDIDATE -en nl HP:0004353 IAO:0000115 Any deviation from the normal concentration of a pyrimidine in the blood circulation Any deviation from the normal concentration of a pyrimidine in the blood circulation NOT_TRANSLATED -en nl HP:0004354 rdfs:label Abnormal circulating carboxylic acid concentration Afwijking van carbonzuur metabolisme CANDIDATE -en nl HP:0004354 IAO:0000115 Any deviation from the normal concentration of a carboxylic acid in the blood circulation Any deviation from the normal concentration of a carboxylic acid in the blood circulation NOT_TRANSLATED -en nl HP:0004356 rdfs:label Abnormality of lysosomal metabolism Afwijking van lysosomale metabolisme CANDIDATE -en nl HP:0004357 rdfs:label Abnormal circulating leucine concentration Afwijking van leucine metabolisme CANDIDATE -en nl HP:0004357 IAO:0000115 Any deviation from the normal circulation of leucine in the blood circulation Any deviation from the normal circulation of leucine in the blood circulation NOT_TRANSLATED -en nl HP:0004358 rdfs:label Abnormality of superoxide metabolism Afwijking van superoxide metabolisme CANDIDATE -en nl HP:0004359 rdfs:label Abnormal circulating fatty-acid concentration Afwijking van vetzuur metabolisme CANDIDATE -en nl HP:0004359 IAO:0000115 A deviation from the normal concentration of a fatty acid in the blood circulation A deviation from the normal concentration of a fatty acid in the blood circulation NOT_TRANSLATED -en nl HP:0004360 rdfs:label Abnormality of acid-base homeostasis Afwijking van zuur-base homeostase CANDIDATE -en nl HP:0004360 IAO:0000115 An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH NOT_TRANSLATED -en nl HP:0004361 rdfs:label Abnormal circulating leptin concentration Afwijking van circulerend leptine niveau CANDIDATE -en nl HP:0004361 IAO:0000115 An abnormal concentration of leptin in the blood An abnormal concentration of leptin in the blood NOT_TRANSLATED -en nl HP:0004362 rdfs:label Abnormality of enteric ganglion morphology Afwijking van enterisch ganglion morfologie CANDIDATE -en nl HP:0004362 IAO:0000115 An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow NOT_TRANSLATED -en nl HP:0004363 rdfs:label Abnormal circulating calcium concentration Afwijking van calcium homeostase CANDIDATE -en nl HP:0004363 IAO:0000115 Any deviation from the normal concentration of calcium in the blood circulation Any deviation from the normal concentration of calcium in the blood circulation NOT_TRANSLATED -en nl HP:0004364 rdfs:label Abnormal circulating nitrogen compound concentration Afwijking in stikstof homeostase CANDIDATE -en nl HP:0004364 IAO:0000115 Any deviation from the normal concentration of a nitrogen compound in the blood circulation Any deviation from the normal concentration of a nitrogen compound in the blood circulation NOT_TRANSLATED -en nl HP:0004365 rdfs:label Abnormal circulating tryptophan concentration Afwijking van tryptofaan metabolisme CANDIDATE -en nl HP:0004365 IAO:0000115 Any deviation from the normal concentration of tryptophan in the blood circulation Any deviation from the normal concentration of tryptophan in the blood circulation NOT_TRANSLATED -en nl HP:0004366 rdfs:label Abnormality of glycolysis Afwijking van de glycolyse CANDIDATE -en nl HP:0004366 IAO:0000115 An abnormality of glycolysis An abnormality of glycolysis NOT_TRANSLATED -en nl HP:0004368 rdfs:label Increased circulating purine concentration Verhoogde purine niveaus CANDIDATE -en nl HP:0004368 IAO:0000115 Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring NOT_TRANSLATED -en nl HP:0004369 rdfs:label Decreased circulating purine concentration Verlaagde purine niveaus CANDIDATE -en nl HP:0004369 IAO:0000115 Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring NOT_TRANSLATED -en nl HP:0004370 rdfs:label Abnormality of temperature regulation Afwijking van temperatuurregeling CANDIDATE -en nl HP:0004370 IAO:0000115 An abnormality of temperature homeostasis An abnormality of temperature homeostasis NOT_TRANSLATED -en nl HP:0004371 rdfs:label Abnormality of glycosaminoglycan metabolism Afwijking van het glycosaminoglycaan metabolisme CANDIDATE -en nl HP:0004371 IAO:0000115 Abnormality of glycosaminoglycan metabolism Abnormality of glycosaminoglycan metabolism NOT_TRANSLATED -en nl HP:0004372 rdfs:label Reduced consciousness/confusion Verminderd bewustzijn/verwarring CANDIDATE -en nl HP:0004373 rdfs:label Focal dystonia Focale dystonie CANDIDATE -en nl HP:0004373 IAO:0000115 A type of dystonia that is localized to a specific part of the body A type of dystonia that is localized to a specific part of the body NOT_TRANSLATED -en nl HP:0004374 rdfs:label Hemiplegia/hemiparesis Hemiplegie/hemiparese CANDIDATE -en nl HP:0004374 IAO:0000115 Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength NOT_TRANSLATED -en nl HP:0004375 rdfs:label Neoplasm of the nervous system Neoplasma van het zenuwstelsel CANDIDATE -en nl HP:0004375 IAO:0000115 A tumor (abnormal growth of tissue) of the nervous system A tumor (abnormal growth of tissue) of the nervous system NOT_TRANSLATED -en nl HP:0004376 rdfs:label Neuroblastic tumor Neuroblastische tumoren CANDIDATE -en nl HP:0004376 IAO:0000115 A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma NOT_TRANSLATED -en nl HP:0004377 rdfs:label Hematological neoplasm Hematologisch neoplasma CANDIDATE -en nl HP:0004377 IAO:0000115 Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue) Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue) NOT_TRANSLATED -en nl HP:0004378 rdfs:label Abnormality of the anus Afwijking van de anus CANDIDATE -en nl HP:0004378 IAO:0000115 Abnormality of the anal canal Abnormality of the anal canal NOT_TRANSLATED -en nl HP:0004379 rdfs:label Abnormality of alkaline phosphatase level Verhoogde alkalisch fosfatase activiteit CANDIDATE -en nl HP:0004379 IAO:0000115 An abnormality of alkaline phosphatase level An abnormality of alkaline phosphatase level NOT_TRANSLATED -en nl HP:0004380 rdfs:label Aortic valve calcification Aortaklep calcificatie CANDIDATE -en nl HP:0004380 IAO:0000115 Deposition of calcium salts in the aortic valve Deposition of calcium salts in the aortic valve NOT_TRANSLATED -en nl HP:0004381 rdfs:label Supravalvular aortic stenosis Supravalvulaire aorta stenose CANDIDATE -en nl HP:0004381 IAO:0000115 A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow NOT_TRANSLATED -en nl HP:0004382 rdfs:label Mitral valve calcification Mitralisklep calcificatie CANDIDATE -en nl HP:0004382 IAO:0000115 Abnormal calcification of the mitral valve Abnormal calcification of the mitral valve NOT_TRANSLATED -en nl HP:0004383 rdfs:label Hypoplastic left heart Hypoplastisch linkerhart CANDIDATE -en nl HP:0004383 IAO:0000115 Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta NOT_TRANSLATED -en nl HP:0004384 rdfs:label Type I truncus arteriosus Type 1 truncus arteriosus CANDIDATE -en nl HP:0004384 IAO:0000115 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries NOT_TRANSLATED -en nl HP:0004385 rdfs:label Protracted diarrhea Langdurige diarree CANDIDATE -en nl HP:0004386 rdfs:label Gastrointestinal inflammation Gastro-intestinale inflammatie CANDIDATE -en nl HP:0004386 IAO:0000115 Inflammation of the alimentary part of the gastrointestinal system Inflammation of the alimentary part of the gastrointestinal system NOT_TRANSLATED -en nl HP:0004387 rdfs:label Enterocolitis Enterocolitis CANDIDATE -en nl HP:0004387 IAO:0000115 An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine) An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine) NOT_TRANSLATED -en nl HP:0004388 rdfs:label Microcolon Microcolon CANDIDATE -en nl HP:0004388 IAO:0000115 A colon of abnormally small caliber A colon of abnormally small caliber NOT_TRANSLATED -en nl HP:0004389 rdfs:label Intestinal pseudo-obstruction Intestinale pseudo-obstructie CANDIDATE -en nl HP:0004389 IAO:0000115 A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded NOT_TRANSLATED -en nl HP:0004390 rdfs:label Hamartomatous polyposis Hamarteuze polyposis CANDIDATE -en nl HP:0004390 IAO:0000115 Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture NOT_TRANSLATED -en nl HP:0004392 rdfs:label Prune belly Prune belly CANDIDATE -en nl HP:0004392 IAO:0000115 A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants NOT_TRANSLATED -en nl HP:0004394 rdfs:label Multiple gastric polyps Multipele maagpoliepen CANDIDATE -en nl HP:0004395 rdfs:label Malnutrition Ondervoeding CANDIDATE -en nl HP:0004395 IAO:0000115 A deficiency in the intake of energy and nutrients A deficiency in the intake of energy and nutrients NOT_TRANSLATED -en nl HP:0004396 rdfs:label Poor appetite Slechte eetlust CANDIDATE -en nl HP:0004396 IAO:0000115 A reduced desire to eat A reduced desire to eat NOT_TRANSLATED -en nl HP:0004397 rdfs:label Ectopic anus Ectopische anus CANDIDATE -en nl HP:0004397 IAO:0000115 Abnormal displacement or malposition of the anus Abnormal displacement or malposition of the anus NOT_TRANSLATED -en nl HP:0004398 rdfs:label Peptic ulcer Ulcus pepticum CANDIDATE -en nl HP:0004398 IAO:0000115 The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers NOT_TRANSLATED -en nl HP:0004399 rdfs:label Congenital pyloric atresia Congenitale pylorus atresie CANDIDATE -en nl HP:0004399 IAO:0000115 Congenital atresia of the pylorus Congenital atresia of the pylorus NOT_TRANSLATED -en nl HP:0004400 rdfs:label Abnormality of the pylorus Afwijking van de pylorus CANDIDATE -en nl HP:0004400 IAO:0000115 An abnormality of the pylorus An abnormality of the pylorus NOT_TRANSLATED -en nl HP:0004401 rdfs:label Meconium ileus Meconium ileus CANDIDATE -en nl HP:0004401 IAO:0000115 Obstruction of the intestine due to abnormally thick meconium Obstruction of the intestine due to abnormally thick meconium NOT_TRANSLATED -en nl HP:0004403 rdfs:label Proximal esophageal atresia Proximale oesofagusatresie CANDIDATE -en nl HP:0004404 rdfs:label Abnormal nipple morphology Afwijkende tepel morfologie CANDIDATE -en nl HP:0004404 IAO:0000115 An abnormality of the nipple An abnormality of the nipple NOT_TRANSLATED -en nl HP:0004405 rdfs:label Prominent nipples Prominente tepels CANDIDATE -en nl HP:0004406 rdfs:label Spontaneous, recurrent epistaxis Spontane, recidiverende epistaxis CANDIDATE -en nl HP:0004407 rdfs:label Bony paranasal bossing Bottige, paranasale bossing CANDIDATE -en nl HP:0004408 rdfs:label Abnormality of the sense of smell Afwijking van de reukzin CANDIDATE -en nl HP:0004408 IAO:0000115 An anomaly in the ability to perceive and distinguish scents (odors) An anomaly in the ability to perceive and distinguish scents (odors) NOT_TRANSLATED -en nl HP:0004409 rdfs:label Hyposmia Hyposmie CANDIDATE -en nl HP:0004409 IAO:0000115 A decreased sensitivity to odorants (that is, a decreased ability to perceive odors) A decreased sensitivity to odorants (that is, a decreased ability to perceive odors) NOT_TRANSLATED -en nl HP:0004411 rdfs:label Deviated nasal septum Gedevieerd septum nasi CANDIDATE -en nl HP:0004411 IAO:0000115 Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum NOT_TRANSLATED -en nl HP:0004414 rdfs:label Abnormality of the pulmonary artery Afwijking van de arteria pulmonalis CANDIDATE -en nl HP:0004414 IAO:0000115 An abnormality of the pulmonary artery An abnormality of the pulmonary artery NOT_TRANSLATED -en nl HP:0004415 rdfs:label Pulmonary artery stenosis Arteria pulmonalis stenose CANDIDATE -en nl HP:0004415 IAO:0000115 An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0004416 rdfs:label Precocious atherosclerosis Premature artherosclerose CANDIDATE -en nl HP:0004417 rdfs:label Intermittent claudication Claudicatio intermittens CANDIDATE -en nl HP:0004417 IAO:0000115 Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still NOT_TRANSLATED -en nl HP:0004418 rdfs:label Thrombophlebitis Tromboflebitis CANDIDATE -en nl HP:0004418 IAO:0000115 Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) NOT_TRANSLATED -en nl HP:0004419 rdfs:label Recurrent thrombophlebitis Recidiverende tromboflebitis CANDIDATE -en nl HP:0004419 IAO:0000115 Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) NOT_TRANSLATED -en nl HP:0004420 rdfs:label Arterial thrombosis Arteriële trombose CANDIDATE -en nl HP:0004420 IAO:0000115 The formation of a blood clot inside an artery The formation of a blood clot inside an artery NOT_TRANSLATED -en nl HP:0004421 rdfs:label Elevated systolic blood pressure Verhoogde systolische bloeddruk CANDIDATE -en nl HP:0004421 IAO:0000115 Abnormal increase in systolic blood pressure Abnormal increase in systolic blood pressure NOT_TRANSLATED -en nl HP:0004422 rdfs:label Biparietal narrowing Bipariëtale versmalling CANDIDATE -en nl HP:0004422 IAO:0000115 A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull) A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull) NOT_TRANSLATED -en nl HP:0004423 rdfs:label Cranium bifidum occultum Cranium bifidum occultum CANDIDATE -en nl HP:0004423 IAO:0000115 Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge NOT_TRANSLATED -en nl HP:0004425 rdfs:label Flat forehead Vlak voorhoofd CANDIDATE -en nl HP:0004425 IAO:0000115 A forehead with abnormal flatness A forehead with abnormal flatness NOT_TRANSLATED -en nl HP:0004426 rdfs:label Abnormal cheek morphology Afwijking van de wang CANDIDATE -en nl HP:0004426 IAO:0000115 "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. ""Buccal"" means relating to the cheek. The cheek is part of the midface" "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. ""Buccal"" means relating to the cheek. The cheek is part of the midface" NOT_TRANSLATED -en nl HP:0004428 rdfs:label Elfin facies Elfachtig gelaat CANDIDATE -en nl HP:0004428 IAO:0000115 This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations NOT_TRANSLATED -en nl HP:0004429 rdfs:label Recurrent viral infections Recidiverende virale infecties CANDIDATE -en nl HP:0004429 IAO:0000115 Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection NOT_TRANSLATED -en nl HP:0004430 rdfs:label Severe combined immunodeficiency Severe combined immunodeficiency CANDIDATE -en nl HP:0004430 IAO:0000115 A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems NOT_TRANSLATED -en nl HP:0004431 rdfs:label Complement deficiency Complement deficiëntie CANDIDATE -en nl HP:0004431 IAO:0000115 An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins NOT_TRANSLATED -en nl HP:0004432 rdfs:label Agammaglobulinemia Agammaglobulinemie CANDIDATE -en nl HP:0004432 IAO:0000115 A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured NOT_TRANSLATED -en nl HP:0004433 rdfs:label Secretory IgA deficiency Secratoire IgA-deficiëntie CANDIDATE -en nl HP:0004433 IAO:0000115 Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens NOT_TRANSLATED -en nl HP:0004434 rdfs:label Decreased serum complement C8 C8 deficiëntie CANDIDATE -en nl HP:0004434 IAO:0000115 A reduced level of the complement component C8 in circulation A reduced level of the complement component C8 in circulation NOT_TRANSLATED -en nl HP:0004437 rdfs:label Cranial hyperostosis Craniale hyperostose CANDIDATE -en nl HP:0004437 IAO:0000115 Excessive growth of the bones of cranium, i.e., of the skull Excessive growth of the bones of cranium, i.e., of the skull NOT_TRANSLATED -en nl HP:0004438 rdfs:label Hyperostosis frontalis interna Hyperostose frontalis interna CANDIDATE -en nl HP:0004438 IAO:0000115 Bony overgrowth of the internal (endosteal) surface of the frontal bone Bony overgrowth of the internal (endosteal) surface of the frontal bone NOT_TRANSLATED -en nl HP:0004439 rdfs:label Craniofacial dysostosis Craniofaciale dysostose CANDIDATE -en nl HP:0004439 IAO:0000115 A characteristic appearance resulting from defective ossification of craniofacial bones A characteristic appearance resulting from defective ossification of craniofacial bones NOT_TRANSLATED -en nl HP:0004440 rdfs:label Coronal craniosynostosis Coronale craniosynostose CANDIDATE -en nl HP:0004440 IAO:0000115 Premature closure of the coronal suture of skull Premature closure of the coronal suture of skull NOT_TRANSLATED -en nl HP:0004442 rdfs:label Sagittal craniosynostosis Sagittale craniosynostose CANDIDATE -en nl HP:0004442 IAO:0000115 A kind of craniosynostosis affecting the sagittal suture A kind of craniosynostosis affecting the sagittal suture NOT_TRANSLATED -en nl HP:0004443 rdfs:label Lambdoidal craniosynostosis Lambdoidale craniosynostose CANDIDATE -en nl HP:0004443 IAO:0000115 A kind of craniosynostosis affecting the lambdoidal suture A kind of craniosynostosis affecting the lambdoidal suture NOT_TRANSLATED -en nl HP:0004444 rdfs:label Spherocytosis Sferocytose CANDIDATE -en nl HP:0004444 IAO:0000115 The presence of erythrocytes that are sphere-shaped The presence of erythrocytes that are sphere-shaped NOT_TRANSLATED -en nl HP:0004445 rdfs:label Elliptocytosis Elliptocytose CANDIDATE -en nl HP:0004445 IAO:0000115 The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear NOT_TRANSLATED -en nl HP:0004446 rdfs:label Stomatocytosis Stomatocytose CANDIDATE -en nl HP:0004446 IAO:0000115 The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear NOT_TRANSLATED -en nl HP:0004447 rdfs:label Poikilocytosis Poikilocytose CANDIDATE -en nl HP:0004447 IAO:0000115 The presence of abnormally shaped erythrocytes The presence of abnormally shaped erythrocytes NOT_TRANSLATED -en nl HP:0004448 rdfs:label Fulminant hepatic failure Fulminant chronisch leverfalen CANDIDATE -en nl HP:0004448 IAO:0000115 Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver NOT_TRANSLATED -en nl HP:0004450 rdfs:label Preauricular skin furrow Preauricular skin furrow NOT_TRANSLATED -en nl HP:0004450 IAO:0000115 A groove of the skin immediately in front of the ear A groove of the skin immediately in front of the ear NOT_TRANSLATED -en nl HP:0004451 rdfs:label Postauricular skin tag Postauriculaire skin tag CANDIDATE -en nl HP:0004451 IAO:0000115 A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear) A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear) NOT_TRANSLATED -en nl HP:0004452 rdfs:label Abnormality of the middle ear ossicles Afwijking van de middenoorbeentjes CANDIDATE -en nl HP:0004452 IAO:0000115 An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea) An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea) NOT_TRANSLATED -en nl HP:0004453 rdfs:label Overfolding of the superior helices Overgevouwen superior helices CANDIDATE -en nl HP:0004453 IAO:0000115 A condition in which the superior portion of the helix is folded over to a greater degree than normal A condition in which the superior portion of the helix is folded over to a greater degree than normal NOT_TRANSLATED -en nl HP:0004454 rdfs:label Abnormal middle ear reflexes Afwijkende middenoor reflexen CANDIDATE -en nl HP:0004458 rdfs:label Dilatated internal auditory canal Gedilateerde interne gehoorgang CANDIDATE -en nl HP:0004458 IAO:0000115 The presence of a dilated inner part of external acoustic meatus The presence of a dilated inner part of external acoustic meatus NOT_TRANSLATED -en nl HP:0004459 rdfs:label Exostosis of the external auditory canal Exostose van externe gehoorgang CANDIDATE -en nl HP:0004459 IAO:0000115 A benign bony growth projecting outward from a bone surface within the external auditory canal A benign bony growth projecting outward from a bone surface within the external auditory canal NOT_TRANSLATED -en nl HP:0004461 rdfs:label Congenital earlobe sinuses Congenital earlobe sinuses NOT_TRANSLATED -en nl HP:0004461 IAO:0000115 Pits in the earlobes at the location where ears are typically pierced for earrings Pits in the earlobes at the location where ears are typically pierced for earrings NOT_TRANSLATED -en nl HP:0004463 rdfs:label Absent brainstem auditory responses Afwezige auditieve reacties van hersenstam CANDIDATE -en nl HP:0004463 IAO:0000115 Lack of measurable response to stimulation of auditory evoked potentials Lack of measurable response to stimulation of auditory evoked potentials NOT_TRANSLATED -en nl HP:0004464 rdfs:label Postauricular pit Post-auriculaire pit CANDIDATE -en nl HP:0004464 IAO:0000115 Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit NOT_TRANSLATED -en nl HP:0004466 rdfs:label Prolonged brainstem auditory evoked potentials Prolonged brainstem auditory evoked potentials NOT_TRANSLATED -en nl HP:0004467 rdfs:label Preauricular pit Pre-auriculaire pit CANDIDATE -en nl HP:0004467 IAO:0000115 Small indentation anterior to the insertion of the ear Small indentation anterior to the insertion of the ear NOT_TRANSLATED -en nl HP:0004468 rdfs:label Anomalous tracheal cartilage Abnormaal tracheaal kraakbeen CANDIDATE -en nl HP:0004468 IAO:0000115 An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue) An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue) NOT_TRANSLATED -en nl HP:0004469 rdfs:label Chronic bronchitis Chronische bronchitis CANDIDATE -en nl HP:0004469 IAO:0000115 Chronic inflammation of the bronchi Chronic inflammation of the bronchi NOT_TRANSLATED -en nl HP:0004470 rdfs:label Atretic occipital cephalocele Atretische occipitale cefalocele CANDIDATE -en nl HP:0004470 IAO:0000115 A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues NOT_TRANSLATED -en nl HP:0004471 rdfs:label Aplasia cutis congenita over the scalp vertex Aplasia cutis congenita over the scalp vertex NOT_TRANSLATED -en nl HP:0004471 IAO:0000115 A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline NOT_TRANSLATED -en nl HP:0004472 rdfs:label Mandibular hyperostosis Mandibulaire hyperostose CANDIDATE -en nl HP:0004472 IAO:0000115 Hyperostosis (bony overgrowth) of the mandible Hyperostosis (bony overgrowth) of the mandible NOT_TRANSLATED -en nl HP:0004474 rdfs:label Persistent open anterior fontanelle Persisterende open anterieure fontanel CANDIDATE -en nl HP:0004474 IAO:0000115 The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age NOT_TRANSLATED -en nl HP:0004476 rdfs:label Aplasia cutis congenita over parietal area Aplasia cutis congenita over pariëtale gebied CANDIDATE -en nl HP:0004476 IAO:0000115 A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area NOT_TRANSLATED -en nl HP:0004478 rdfs:label Ethmoidal encephalocele Ethmoïdale encefalocele CANDIDATE -en nl HP:0004481 rdfs:label Progressive macrocephaly Progressieve macrocefalie CANDIDATE -en nl HP:0004481 IAO:0000115 The progressive development of an abnormally large skull The progressive development of an abnormally large skull NOT_TRANSLATED -en nl HP:0004482 rdfs:label Relative macrocephaly Relatieve macrocefalie CANDIDATE -en nl HP:0004482 IAO:0000115 A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account NOT_TRANSLATED -en nl HP:0004484 rdfs:label Craniofacial asymmetry Craniofaciale asymmetrie CANDIDATE -en nl HP:0004484 IAO:0000115 Asymmetry of the bones of the skull and the face Asymmetry of the bones of the skull and the face NOT_TRANSLATED -en nl HP:0004485 rdfs:label Cessation of head growth Stoppen van de hoofdgroei CANDIDATE -en nl HP:0004485 IAO:0000115 Stagnation of head growth seen as flattening of the head circumference curve Stagnation of head growth seen as flattening of the head circumference curve NOT_TRANSLATED -en nl HP:0004487 rdfs:label Acrobrachycephaly Acrobrachycephalie CANDIDATE -en nl HP:0004487 IAO:0000115 An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures NOT_TRANSLATED -en nl HP:0004488 rdfs:label Macrocephaly at birth Macrocefalie bij geboorte CANDIDATE -en nl HP:0004488 IAO:0000115 The presence of an abnormally large skull with onset at birth The presence of an abnormally large skull with onset at birth NOT_TRANSLATED -en nl HP:0004490 rdfs:label Calvarial hyperostosis Exostose van schedeldak CANDIDATE -en nl HP:0004490 IAO:0000115 Excessive growth of the calvaria Excessive growth of the calvaria NOT_TRANSLATED -en nl HP:0004491 rdfs:label Large posterior fontanelle Grote achterste fontanel CANDIDATE -en nl HP:0004491 IAO:0000115 An enlargement of the posterior fontanelle relative to age-dependent norms An enlargement of the posterior fontanelle relative to age-dependent norms NOT_TRANSLATED -en nl HP:0004492 rdfs:label Widely patent fontanelles and sutures Wijde open fontanellen en suturen CANDIDATE -en nl HP:0004492 IAO:0000115 An abnormally increased width of the cranial fontanelles and sutures An abnormally increased width of the cranial fontanelles and sutures NOT_TRANSLATED -en nl HP:0004493 rdfs:label Craniofacial hyperostosis Craniofaciale hyperostose CANDIDATE -en nl HP:0004493 IAO:0000115 Excessive growth of the craniofacial bones Excessive growth of the craniofacial bones NOT_TRANSLATED -en nl HP:0004499 rdfs:label Chronic rhinitis due to narrow nasal airway Chronische rhinitis door nauwe nasale luchtweg CANDIDATE -en nl HP:0004502 rdfs:label Bilateral choanal atresia Bilaterale choane-atresie CANDIDATE -en nl HP:0004502 IAO:0000115 Bilateral absence (atresia) of the posterior nasal aperture (choana) Bilateral absence (atresia) of the posterior nasal aperture (choana) NOT_TRANSLATED -en nl HP:0004510 rdfs:label Pancreatic islet-cell hyperplasia Eilandjes van Langerhans hyperplasie CANDIDATE -en nl HP:0004510 IAO:0000115 Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells NOT_TRANSLATED -en nl HP:0004523 rdfs:label Long eyebrows Lange wenkbrauwen CANDIDATE -en nl HP:0004523 IAO:0000115 Increased length of the hairs of the eyebrows Increased length of the hairs of the eyebrows NOT_TRANSLATED -en nl HP:0004524 rdfs:label Temporal hypotrichosis Temporale hypotrichose CANDIDATE -en nl HP:0004524 IAO:0000115 Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull) Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull) NOT_TRANSLATED -en nl HP:0004527 rdfs:label Large clumps of pigment irregularly distributed along hair shaft Grote klonten pigment onregelmatig verdeeld langs de haarschacht CANDIDATE -en nl HP:0004528 rdfs:label Generalized hypotrichosis Gegeneraliseerde hypotrichose CANDIDATE -en nl HP:0004528 IAO:0000115 Reduced or lacking hair growth in a generalized distribution Reduced or lacking hair growth in a generalized distribution NOT_TRANSLATED -en nl HP:0004529 rdfs:label Atrophic, patchy alopecia Atrofische, onregelmatige alopecia CANDIDATE -en nl HP:0004532 rdfs:label Sacral hypertrichosis Sacrale hypertrichose CANDIDATE -en nl HP:0004532 IAO:0000115 Excessive, increased hair growth located in the sacral region Excessive, increased hair growth located in the sacral region NOT_TRANSLATED -en nl HP:0004535 rdfs:label Anterior cervical hypertrichosis Anterieure cervicale hypertrichose CANDIDATE -en nl HP:0004535 IAO:0000115 Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence NOT_TRANSLATED -en nl HP:0004540 rdfs:label Congenital, generalized hypertrichosis Congenitale, gegeneraliseerde hypertrichose CANDIDATE -en nl HP:0004540 IAO:0000115 A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth NOT_TRANSLATED -en nl HP:0004552 rdfs:label Scarring alopecia of scalp Alopecia van hoofdhuid met littekenvorming CANDIDATE -en nl HP:0004554 rdfs:label Generalized hypertrichosis Gegeneraliseerde hypertrichose CANDIDATE -en nl HP:0004554 IAO:0000115 Generalized excessive, abnormal hairiness Generalized excessive, abnormal hairiness NOT_TRANSLATED -en nl HP:0004557 rdfs:label Anterior vertebral fusion Anterieure wervelfusie CANDIDATE -en nl HP:0004558 rdfs:label Cervical platyspondyly Cervicale platyspondylie CANDIDATE -en nl HP:0004558 IAO:0000115 A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine NOT_TRANSLATED -en nl HP:0004562 rdfs:label Beaking of vertebral bodies T12-L3 Beknelling van wervellichamen T12-L3 CANDIDATE -en nl HP:0004563 rdfs:label Increased spinal bone density Verhoogde dichtheid van spinaal bot CANDIDATE -en nl HP:0004563 IAO:0000115 Increased bone density affecting the bones of the spine (vertebral column) Increased bone density affecting the bones of the spine (vertebral column) NOT_TRANSLATED -en nl HP:0004565 rdfs:label Severe platyspondyly Ernstige platyspondylie CANDIDATE -en nl HP:0004566 rdfs:label Pear-shaped vertebrae Peervormige wervels CANDIDATE -en nl HP:0004566 IAO:0000115 Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours NOT_TRANSLATED -en nl HP:0004568 rdfs:label Beaking of vertebral bodies Beknelling van wervellichamen CANDIDATE -en nl HP:0004568 IAO:0000115 Anterior tongue-like protrusions of the vertebral bodies Anterior tongue-like protrusions of the vertebral bodies NOT_TRANSLATED -en nl HP:0004570 rdfs:label Increased vertebral height Verhoogde wervel hoogte CANDIDATE -en nl HP:0004570 IAO:0000115 Increased top to bottom height of vertebral bodies Increased top to bottom height of vertebral bodies NOT_TRANSLATED -en nl HP:0004571 rdfs:label Widening of cervical spinal canal Verbreding van het cervicale spinale kanaal CANDIDATE -en nl HP:0004573 rdfs:label Anterior wedging of T11 Anterior wedging of T11 NOT_TRANSLATED -en nl HP:0004573 IAO:0000115 An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front) An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED -en nl HP:0004575 rdfs:label Fusion of midcervical facet joints Fusie van midcervicale facetgewrichten CANDIDATE -en nl HP:0004576 rdfs:label Sclerotic vertebral endplates Sclerotische vertebrale eindplaten CANDIDATE -en nl HP:0004576 IAO:0000115 Sclerosis (increased density) affecting vertebral end plates Sclerosis (increased density) affecting vertebral end plates NOT_TRANSLATED -en nl HP:0004580 rdfs:label Anterior scalloping of vertebral bodies Anterieure uitstulping van wervellichamen CANDIDATE -en nl HP:0004580 IAO:0000115 An excessive concavity of the anterior surface of one or more vertebral bodies An excessive concavity of the anterior surface of one or more vertebral bodies NOT_TRANSLATED -en nl HP:0004581 rdfs:label Increased anterior vertebral height Verhoogde anterieure wervel hoogte CANDIDATE -en nl HP:0004582 rdfs:label Irregularity of vertebral bodies Irregulairiteit van wervellichamen CANDIDATE -en nl HP:0004586 rdfs:label Biconcave vertebral bodies Biconcave wervellichamen CANDIDATE -en nl HP:0004586 IAO:0000115 Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward NOT_TRANSLATED -en nl HP:0004589 rdfs:label Dysplasia of second lumbar vertebra Dysplasie van tweede lumbale wervel CANDIDATE -en nl HP:0004590 rdfs:label Hypoplastic sacrum Hypoplastisch sacrum CANDIDATE -en nl HP:0004591 rdfs:label Disc-like vertebral bodies Disc-like vertebral bodies NOT_TRANSLATED -en nl HP:0004592 rdfs:label Thoracic platyspondyly Platyspondylie van thorax CANDIDATE -en nl HP:0004592 IAO:0000115 A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine NOT_TRANSLATED -en nl HP:0004594 rdfs:label Hump-shaped mound of bone in central and posterior portions of vertebral endplate Homp-vormige hoop bot in centrale en posterieure delen van de vertebrale eindplaat CANDIDATE -en nl HP:0004598 rdfs:label Supernumerary vertebral ossification centers Extra centra van vertebrale ossificatie CANDIDATE -en nl HP:0004598 IAO:0000115 Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine NOT_TRANSLATED -en nl HP:0004599 rdfs:label Absent or minimally ossified vertebral bodies Afwezige of minimale ossificatie van wervellichamen CANDIDATE -en nl HP:0004601 rdfs:label Spina bifida occulta at L5 Spina bifida occulta op L5 CANDIDATE -en nl HP:0004601 IAO:0000115 The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin NOT_TRANSLATED -en nl HP:0004602 rdfs:label Cervical C2/C3 vertebral fusion Cervicale C2/C3 wervelfusie CANDIDATE -en nl HP:0004602 IAO:0000115 Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine NOT_TRANSLATED -en nl HP:0004603 rdfs:label Hyperconvex vertebral body endplates Hyperconvexe wervellichaam eindplaten CANDIDATE -en nl HP:0004605 rdfs:label Absent vertebral body mineralization Afwezige wervellichaam mineralisatie CANDIDATE -en nl HP:0004605 IAO:0000115 A lack of bone mineralization of the vertebral bodies A lack of bone mineralization of the vertebral bodies NOT_TRANSLATED -en nl HP:0004606 rdfs:label Unossified vertebral bodies Niet-geossificeerde wervellichamen CANDIDATE -en nl HP:0004606 IAO:0000115 A lack of ossification of the vertebral bodies A lack of ossification of the vertebral bodies NOT_TRANSLATED -en nl HP:0004607 rdfs:label Anterior beaking of lower thoracic vertebrae Anterieure beknelling van lagere thoracale wervels CANDIDATE -en nl HP:0004607 IAO:0000115 Anterior tongue-like protrusions of the lower thoracic vertebral bodies Anterior tongue-like protrusions of the lower thoracic vertebral bodies NOT_TRANSLATED -en nl HP:0004608 rdfs:label Anteriorly placed odontoid process Anterieur geplaatst processus odontoideus CANDIDATE -en nl HP:0004608 IAO:0000115 Anterior mislocalization of the dens of the axis Anterior mislocalization of the dens of the axis NOT_TRANSLATED -en nl HP:0004609 rdfs:label Patchy distortion of vertebrae Fragmentarische vervorming van wervels CANDIDATE -en nl HP:0004610 rdfs:label Lumbar spinal canal stenosis Lumbale wervelkanaalstenose CANDIDATE -en nl HP:0004610 IAO:0000115 An abnormal narrowing of the lumbar spinal canal An abnormal narrowing of the lumbar spinal canal NOT_TRANSLATED -en nl HP:0004611 rdfs:label Anterior concavity of thoracic vertebrae Anterieure holte van thoracale wervels CANDIDATE -en nl HP:0004614 rdfs:label Spina bifida occulta at S1 Spina bifida occulta op S1 CANDIDATE -en nl HP:0004614 IAO:0000115 The closed form of spina bifida with incomplete closure of S1 with intact overlying skin The closed form of spina bifida with incomplete closure of S1 with intact overlying skin NOT_TRANSLATED -en nl HP:0004616 rdfs:label Cleft vertebral arch Gespleten wervelboog CANDIDATE -en nl HP:0004616 IAO:0000115 A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra NOT_TRANSLATED -en nl HP:0004617 rdfs:label Butterfly vertebral arch Butterfly vertebral arch NOT_TRANSLATED -en nl HP:0004617 IAO:0000115 Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends NOT_TRANSLATED -en nl HP:0004618 rdfs:label Sandwich appearance of vertebral bodies Sandwich uiterlijk van wervellichamen CANDIDATE -en nl HP:0004619 rdfs:label Lumbar kyphoscoliosis Lumbale kyphoscoliose CANDIDATE -en nl HP:0004621 rdfs:label Enlarged vertebral pedicles Vergrote vertebrale pedikels CANDIDATE -en nl HP:0004621 IAO:0000115 Increased size of the vertebral pedicle Increased size of the vertebral pedicle NOT_TRANSLATED -en nl HP:0004622 rdfs:label Progressive intervertebral space narrowing Progressieve versmalling van intervertebrale ruimte CANDIDATE -en nl HP:0004622 IAO:0000115 A progressive form of decreased height of the intervertebral disk A progressive form of decreased height of the intervertebral disk NOT_TRANSLATED -en nl HP:0004625 rdfs:label Biconvex vertebral bodies Biconvexe wervellichamen CANDIDATE -en nl HP:0004625 IAO:0000115 Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates NOT_TRANSLATED -en nl HP:0004626 rdfs:label Lumbar scoliosis Lumbale scoliose CANDIDATE -en nl HP:0004629 rdfs:label Small cervical vertebral bodies Kleine cervicale wervellichamen CANDIDATE -en nl HP:0004629 IAO:0000115 Reduced size of cervical vertebrae Reduced size of cervical vertebrae NOT_TRANSLATED -en nl HP:0004630 rdfs:label Anterior beaking of thoracic vertebrae Anterieure beknelling van thoracale wervels CANDIDATE -en nl HP:0004630 IAO:0000115 Anterior tongue-like protrusions of thoracic vertebral bodies Anterior tongue-like protrusions of thoracic vertebral bodies NOT_TRANSLATED -en nl HP:0004631 rdfs:label Decreased cervical spine flexion due to contractures of posterior cervical muscles Verminderde cervicale wervelkolomflexie als gevolg van contracturen van de posterieure cervicale spieren CANDIDATE -en nl HP:0004632 rdfs:label Cervical segmentation defect Cervicaal segmentatie defect CANDIDATE -en nl HP:0004632 IAO:0000115 An abnormality related to a defect of vertebral separation of cervical vertebrae during development An abnormality related to a defect of vertebral separation of cervical vertebrae during development NOT_TRANSLATED -en nl HP:0004633 rdfs:label Lower thoracic kyphosis Lagere thoracle kyfose CANDIDATE -en nl HP:0004633 IAO:0000115 Over curvature of the lower thoracic region, leading to a round back or if sever to a hump Over curvature of the lower thoracic region, leading to a round back or if sever to a hump NOT_TRANSLATED -en nl HP:0004634 rdfs:label Cuboid-shaped vertebral bodies Kubusvormige wervellichamen CANDIDATE -en nl HP:0004635 rdfs:label Cervical C5/C6 vertebrae fusion Cervicale C5/C6 wervelfusie CANDIDATE -en nl HP:0004635 IAO:0000115 Fusion of the C5 and C6 cervical vertebrae Fusion of the C5 and C6 cervical vertebrae NOT_TRANSLATED -en nl HP:0004637 rdfs:label Decreased cervical spine mobility Verminderde mobiliteit cervicale wervelkolom CANDIDATE -en nl HP:0004639 rdfs:label Elevated amniotic fluid alpha-fetoprotein Verhoogde alfafoetoproteïne in vruchtwater CANDIDATE -en nl HP:0004639 IAO:0000115 An elevation of alpha-feto protein measured in the amniotic fluid An elevation of alpha-feto protein measured in the amniotic fluid NOT_TRANSLATED -en nl HP:0004646 rdfs:label Hypoplasia of the nasal bone Hypoplasie van nasale bot CANDIDATE -en nl HP:0004646 IAO:0000115 Underdevelopment of the nasal bone Underdevelopment of the nasal bone NOT_TRANSLATED -en nl HP:0004660 rdfs:label Hypoplasia of facial musculature Hypoplasie van aangezichtsmusculatuur CANDIDATE -en nl HP:0004660 IAO:0000115 Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve) Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED -en nl HP:0004661 rdfs:label Frontalis muscle weakness Zwakte van musculus frontalis CANDIDATE -en nl HP:0004661 IAO:0000115 Reduced strength of the frontalis muscle (which is located on the forehead) Reduced strength of the frontalis muscle (which is located on the forehead) NOT_TRANSLATED -en nl HP:0004664 rdfs:label Facial midline hemangioma Faciaal hemangioom in middellijn CANDIDATE -en nl HP:0004664 IAO:0000115 Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face NOT_TRANSLATED -en nl HP:0004673 rdfs:label Decreased facial expression Verminderde faciale expressie CANDIDATE -en nl HP:0004673 IAO:0000115 A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions NOT_TRANSLATED -en nl HP:0004676 rdfs:label Prominent supraorbital arches in adult Prominent supraorbital arches in adult NOT_TRANSLATED -en nl HP:0004679 rdfs:label Large tarsal bones Grote tarsale botten CANDIDATE -en nl HP:0004681 rdfs:label Deep longitudinal plantar crease Diepe longitudinale plantaire plooien CANDIDATE -en nl HP:0004681 IAO:0000115 Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot NOT_TRANSLATED -en nl HP:0004684 rdfs:label Talipes valgus Talipes valgus CANDIDATE -en nl HP:0004684 IAO:0000115 Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot NOT_TRANSLATED -en nl HP:0004686 rdfs:label Short third metatarsal Korte derde metatarsaal CANDIDATE -en nl HP:0004686 IAO:0000115 Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone NOT_TRANSLATED -en nl HP:0004688 rdfs:label Irregular tarsal bones Irregulaire tarsale botten CANDIDATE -en nl HP:0004689 rdfs:label Short fourth metatarsal Korte vierde metatarsaal CANDIDATE -en nl HP:0004689 IAO:0000115 Short fourth metatarsal bone Short fourth metatarsal bone NOT_TRANSLATED -en nl HP:0004690 rdfs:label Thickened Achilles tendon Verdikte achillespees CANDIDATE -en nl HP:0004690 IAO:0000115 An abnormal thickening of the Achilles tendon An abnormal thickening of the Achilles tendon NOT_TRANSLATED -en nl HP:0004691 rdfs:label 2-3 toe syndactyly 2-3 teen syndactylie CANDIDATE -en nl HP:0004691 IAO:0000115 Syndactyly with fusion of toes two and three Syndactyly with fusion of toes two and three NOT_TRANSLATED -en nl HP:0004692 rdfs:label 4-5 toe syndactyly 4-5 teen syndactylie CANDIDATE -en nl HP:0004692 IAO:0000115 Syndactyly with fusion of toes four and five Syndactyly with fusion of toes four and five NOT_TRANSLATED -en nl HP:0004695 rdfs:label Calcaneal epiphyseal stippling Vlekkerige calcificaties van epifyse van calcaneus CANDIDATE -en nl HP:0004695 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus NOT_TRANSLATED -en nl HP:0004696 rdfs:label Talipes cavus equinovarus Talipes equinovarus CANDIDATE -en nl HP:0004699 rdfs:label Osteoporotic metatarsal Osteoporotische metatarsaal CANDIDATE -en nl HP:0004699 IAO:0000115 Decrease in mass and density of the metatarsal bones Decrease in mass and density of the metatarsal bones NOT_TRANSLATED -en nl HP:0004704 rdfs:label Short fifth metatarsal Korte vijfde metatarsaal CANDIDATE -en nl HP:0004704 IAO:0000115 Short (hypoplastic) fifth metatarsal bone Short (hypoplastic) fifth metatarsal bone NOT_TRANSLATED -en nl HP:0004712 rdfs:label Renal malrotation Renale malrotatie CANDIDATE -en nl HP:0004712 IAO:0000115 An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney NOT_TRANSLATED -en nl HP:0004713 rdfs:label Reversible renal failure Reversibel nierfalen CANDIDATE -en nl HP:0004713 IAO:0000115 Acute renal failure with resolution of manifestations Acute renal failure with resolution of manifestations NOT_TRANSLATED -en nl HP:0004717 rdfs:label Axial malrotation of the kidney Axiale malrotatie van nier CANDIDATE -en nl HP:0004717 IAO:0000115 An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney NOT_TRANSLATED -en nl HP:0004719 rdfs:label Hyperechogenic kidneys Hyperechogene nieren CANDIDATE -en nl HP:0004719 IAO:0000115 An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal NOT_TRANSLATED -en nl HP:0004722 rdfs:label Thickened glomerular basement membrane Verdikking van de glomerulaire basale membraan CANDIDATE -en nl HP:0004722 IAO:0000115 Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney NOT_TRANSLATED -en nl HP:0004724 rdfs:label Calcium nephrolithiasis Calcium nephrolithiasis CANDIDATE -en nl HP:0004724 IAO:0000115 The presence of calcium-containing calculi (stones) in the kidneys The presence of calcium-containing calculi (stones) in the kidneys NOT_TRANSLATED -en nl HP:0004727 rdfs:label Impaired renal concentrating ability Verminderd renaal concentrerend vermogen CANDIDATE -en nl HP:0004727 IAO:0000115 A defect in the ability to concentrate the urine A defect in the ability to concentrate the urine NOT_TRANSLATED -en nl HP:0004729 rdfs:label Acute tubulointerstitial nephritis Acute tubulointerstitiële nefritis CANDIDATE -en nl HP:0004729 IAO:0000115 Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules NOT_TRANSLATED -en nl HP:0004732 rdfs:label Impaired renal uric acid clearance Verminderde renale urinezurr klaring CANDIDATE -en nl HP:0004732 IAO:0000115 A reduction in the ability of the kidneys to remove uric acid from the serum A reduction in the ability of the kidneys to remove uric acid from the serum NOT_TRANSLATED -en nl HP:0004734 rdfs:label Renal cortical microcysts Renale corticale microcysten CANDIDATE -en nl HP:0004734 IAO:0000115 Cysts of microscopic size confined to the cortex of the kidney Cysts of microscopic size confined to the cortex of the kidney NOT_TRANSLATED -en nl HP:0004736 rdfs:label Crossed fused renal ectopia Crossed fused renal ectopia NOT_TRANSLATED -en nl HP:0004736 IAO:0000115 A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys NOT_TRANSLATED -en nl HP:0004737 rdfs:label Global glomerulosclerosis Globale glomerulosclerose CANDIDATE -en nl HP:0004737 IAO:0000115 Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50% Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50% NOT_TRANSLATED -en nl HP:0004742 rdfs:label Abnormal renal collecting system morphology Afwijking van het renale verzamelsysteem CANDIDATE -en nl HP:0004742 IAO:0000115 An abnormality of the renal collecting system An abnormality of the renal collecting system NOT_TRANSLATED -en nl HP:0004743 rdfs:label Chronic tubulointerstitial nephritis Chronische tubulointerstitiële nefritis CANDIDATE -en nl HP:0004743 IAO:0000115 Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules NOT_TRANSLATED -en nl HP:0004746 rdfs:label Glomerular subendothelial electron-dense deposits Glomerulaire subendotheliale elektronen-dichte deposities CANDIDATE -en nl HP:0004746 IAO:0000115 Electron dense deposits at the glomerular basement membrane, Electron dense deposits at the glomerular basement membrane, NOT_TRANSLATED -en nl HP:0004749 rdfs:label Atrial flutter Atriale flutter CANDIDATE -en nl HP:0004749 IAO:0000115 A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit NOT_TRANSLATED -en nl HP:0004751 rdfs:label Paroxysmal ventricular tachycardia Paroxysmale ventriculaire tachycardie CANDIDATE -en nl HP:0004751 IAO:0000115 Episodes of ventricular tachycardia that have a sudden onset and ending Episodes of ventricular tachycardia that have a sudden onset and ending NOT_TRANSLATED -en nl HP:0004752 rdfs:label Congenital atrioventricular dissociation Congenitale atrioventriculaire dissociatie CANDIDATE -en nl HP:0004752 IAO:0000115 A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset NOT_TRANSLATED -en nl HP:0004754 rdfs:label Permanent atrial fibrillation Permanent atriumfibrilleren CANDIDATE -en nl HP:0004754 IAO:0000115 Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent NOT_TRANSLATED -en nl HP:0004755 rdfs:label Supraventricular tachycardia Supraventriculaire tachycardie CANDIDATE -en nl HP:0004755 IAO:0000115 Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles NOT_TRANSLATED -en nl HP:0004756 rdfs:label Ventricular tachycardia Ventriculaire tachycardie CANDIDATE -en nl HP:0004756 IAO:0000115 A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms) A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms) NOT_TRANSLATED -en nl HP:0004757 rdfs:label Paroxysmal atrial fibrillation Paroxysmaal atriumfibrilleren CANDIDATE -en nl HP:0004757 IAO:0000115 Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously NOT_TRANSLATED -en nl HP:0004758 rdfs:label Effort-induced polymorphic ventricular tachycardia Inspannings-geïnduceerde polymorfe ventriculaire tachycardieën CANDIDATE -en nl HP:0004758 IAO:0000115 Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration NOT_TRANSLATED -en nl HP:0004761 rdfs:label Post-angioplasty coronary artery restenosis Post-angioplastie restenose van coronairarterie CANDIDATE -en nl HP:0004762 rdfs:label Hypoplasia of right ventricle Hypoplasie van rechterventrikel CANDIDATE -en nl HP:0004762 IAO:0000115 Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells NOT_TRANSLATED -en nl HP:0004763 rdfs:label Paroxysmal supraventricular tachycardia Paroxysmale supraventriculaire tachycardie CANDIDATE -en nl HP:0004763 IAO:0000115 An episodic form of supraventricular tachycardia with abrupt onset and termination An episodic form of supraventricular tachycardia with abrupt onset and termination NOT_TRANSLATED -en nl HP:0004764 rdfs:label Myxomatous mitral valve degeneration Myxomateuze mitralisklep degeneratie CANDIDATE -en nl HP:0004764 IAO:0000115 Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view NOT_TRANSLATED -en nl HP:0004768 rdfs:label Sparse anterior scalp hair Spaarzaam anterieur hoofdhaar CANDIDATE -en nl HP:0004768 IAO:0000115 Decreased number of head hairs per unit area on the anterior region of the scalp Decreased number of head hairs per unit area on the anterior region of the scalp NOT_TRANSLATED -en nl HP:0004771 rdfs:label Premature graying of body hair Prematuur grijs worden van het lichaamshaar CANDIDATE -en nl HP:0004779 rdfs:label Brittle scalp hair Bros hoofdhaar CANDIDATE -en nl HP:0004779 IAO:0000115 Fragile, easily breakable scalp hair Fragile, easily breakable scalp hair NOT_TRANSLATED -en nl HP:0004780 rdfs:label Elbow hypertrichosis Hypertrichose op elleboog CANDIDATE -en nl HP:0004780 IAO:0000115 Excessive, increased hair growth located in the elbow region Excessive, increased hair growth located in the elbow region NOT_TRANSLATED -en nl HP:0004783 rdfs:label Duodenal polyposis Duodenale polyposis CANDIDATE -en nl HP:0004783 IAO:0000115 Presence of multiple polyps in the duodenum Presence of multiple polyps in the duodenum NOT_TRANSLATED -en nl HP:0004784 rdfs:label Juvenile gastrointestinal polyposis Juveniele gastro-intestinale polyposis CANDIDATE -en nl HP:0004784 IAO:0000115 The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps NOT_TRANSLATED -en nl HP:0004785 rdfs:label Malrotation of colon Malrotatie van colon CANDIDATE -en nl HP:0004785 IAO:0000115 An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis NOT_TRANSLATED -en nl HP:0004786 rdfs:label Jejunal diverticula Divertikels van jejunum CANDIDATE -en nl HP:0004787 rdfs:label Fulminant hepatitis Fulminante hepatitis CANDIDATE -en nl HP:0004787 IAO:0000115 Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice NOT_TRANSLATED -en nl HP:0004788 rdfs:label Intestinal lymphedema Intestinaal lymfoedeem CANDIDATE -en nl HP:0004788 IAO:0000115 Fluid retention and edema in the intestine caused by a compromised lymphatic system Fluid retention and edema in the intestine caused by a compromised lymphatic system NOT_TRANSLATED -en nl HP:0004789 rdfs:label Lactose intolerance Lactose-intolerantie CANDIDATE -en nl HP:0004789 IAO:0000115 An inability to digest lactose An inability to digest lactose NOT_TRANSLATED -en nl HP:0004790 rdfs:label Hypoplasia of the small intestine Hypoplasie van dunne darm CANDIDATE -en nl HP:0004790 IAO:0000115 Underdevelopment of the small intestine Underdevelopment of the small intestine NOT_TRANSLATED -en nl HP:0004791 rdfs:label Esophageal ulceration Oesofageale ulceratie CANDIDATE -en nl HP:0004791 IAO:0000115 Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus NOT_TRANSLATED -en nl HP:0004792 rdfs:label Rectoperineal fistula Rectoperineale fistel CANDIDATE -en nl HP:0004792 IAO:0000115 The presence of a fistula between the perineum and the rectum The presence of a fistula between the perineum and the rectum NOT_TRANSLATED -en nl HP:0004794 rdfs:label Malrotation of small bowel Malrotatie van dunne darm CANDIDATE -en nl HP:0004794 IAO:0000115 A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel NOT_TRANSLATED -en nl HP:0004795 rdfs:label Hamartomatous stomach polyps Hamarteuze maagpoliepen CANDIDATE -en nl HP:0004795 IAO:0000115 Polyp-like protrusions which are histologically hamartomas located in the stomach Polyp-like protrusions which are histologically hamartomas located in the stomach NOT_TRANSLATED -en nl HP:0004796 rdfs:label Gastrointestinal obstruction Gastro-intestinale obstructie CANDIDATE -en nl HP:0004797 rdfs:label Multiple small bowel atresias Multipele dunne darm atresieën CANDIDATE -en nl HP:0004797 IAO:0000115 The presence of multiple areas of atresia affecting the small intestine The presence of multiple areas of atresia affecting the small intestine NOT_TRANSLATED -en nl HP:0004798 rdfs:label Recurrent infection of the gastrointestinal tract Recidiverende infecties van het gastro-instestinale stelsel CANDIDATE -en nl HP:0004798 IAO:0000115 Recurrent infection of the gastrointestinal tract Recurrent infection of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0004799 rdfs:label Jejunoileal diverticula Jejuno-ileale divertikels CANDIDATE -en nl HP:0004800 rdfs:label Duodenal diverticula Duodenale divertikels CANDIDATE -en nl HP:0004802 rdfs:label Episodic hemolytic anemia Episodische hemolytische anemie CANDIDATE -en nl HP:0004802 IAO:0000115 A form of hemolytic anemia that occurs in repeated episodes A form of hemolytic anemia that occurs in repeated episodes NOT_TRANSLATED -en nl HP:0004804 rdfs:label Congenital hemolytic anemia Congenitale hemolytische anemie CANDIDATE -en nl HP:0004804 IAO:0000115 A form of hemolytic anemia with congenital onset A form of hemolytic anemia with congenital onset NOT_TRANSLATED -en nl HP:0004808 rdfs:label Acute myeloid leukemia Acute myeloïde leukemie CANDIDATE -en nl HP:0004808 IAO:0000115 A form of leukemia characterized by overproduction of an early myeloid cell A form of leukemia characterized by overproduction of an early myeloid cell NOT_TRANSLATED -en nl HP:0004809 rdfs:label Neonatal alloimmune thrombocytopenia Neonatale allo-immuun trombocytopenie CANDIDATE -en nl HP:0004809 IAO:0000115 Low platelet count associated with maternal platelet-specific alloantibodies Low platelet count associated with maternal platelet-specific alloantibodies NOT_TRANSLATED -en nl HP:0004810 rdfs:label Congenital hypoplastic anemia Congenitale hypoplastische anemie CANDIDATE -en nl HP:0004810 IAO:0000115 A type of hypoplastic anemia with congenital onset A type of hypoplastic anemia with congenital onset NOT_TRANSLATED -en nl HP:0004812 rdfs:label B Acute Lymphoblastic Leukemia Voorloper-B-Cel acute lymfatische leukemie CANDIDATE -en nl HP:0004812 IAO:0000115 A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood NOT_TRANSLATED -en nl HP:0004813 rdfs:label Post-transfusion thrombocytopenia Post-transfusie trombocytopenie CANDIDATE -en nl HP:0004813 IAO:0000115 Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages NOT_TRANSLATED -en nl HP:0004814 rdfs:label Fava bean-induced hemolytic anemia Tuinboon-geïnduceerde hemolytische anemie CANDIDATE -en nl HP:0004814 IAO:0000115 A kind of hemolytic anemia that is induced by the ingestion of fava beans A kind of hemolytic anemia that is induced by the ingestion of fava beans NOT_TRANSLATED -en nl HP:0004817 rdfs:label Drug-sensitive hemolytic anemia Medicijn-gevoelige hemolytische anemie CANDIDATE -en nl HP:0004817 IAO:0000115 A form of hemolytic anemia that is triggered by ingestion of certain drugs A form of hemolytic anemia that is triggered by ingestion of certain drugs NOT_TRANSLATED -en nl HP:0004818 rdfs:label Paroxysmal nocturnal hemoglobinuria Paroxysmale nachtelijke hemoglobinurie CANDIDATE -en nl HP:0004819 rdfs:label Normocytic hypoplastic anemia Normocytaire hypoplastische anemie CANDIDATE -en nl HP:0004819 IAO:0000115 A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits) A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits) NOT_TRANSLATED -en nl HP:0004820 rdfs:label Acute myelomonocytic leukemia Acute myelomonocytaire leukemie CANDIDATE -en nl HP:0004820 IAO:0000115 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors NOT_TRANSLATED -en nl HP:0004821 rdfs:label Hypersegmentation of neutrophil nuclei Hypersegmentatie van neutrofielkernen CANDIDATE -en nl HP:0004821 IAO:0000115 An excessive division of the lobes of the nucleus of a neutrophil An excessive division of the lobes of the nucleus of a neutrophil NOT_TRANSLATED -en nl HP:0004822 rdfs:label Atypical elliptocytosis Atypische elliptocytose CANDIDATE -en nl HP:0004823 rdfs:label Anisopoikilocytosis Anisopoikilocytose CANDIDATE -en nl HP:0004823 IAO:0000115 A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes NOT_TRANSLATED -en nl HP:0004825 rdfs:label Increased hemoglobin oxygen affinity Verhoogde hemoglobine affiniteit voor zuurstof CANDIDATE -en nl HP:0004825 IAO:0000115 An abnormal increase in the binding affinity of hemoglobin for oxygen An abnormal increase in the binding affinity of hemoglobin for oxygen NOT_TRANSLATED -en nl HP:0004826 rdfs:label Folate-unresponsive megaloblastic anemia Foliumzuur-niet-responsieve megaloblastaire anemie CANDIDATE -en nl HP:0004826 IAO:0000115 A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia NOT_TRANSLATED -en nl HP:0004828 rdfs:label Refractory anemia with ringed sideroblasts Refractoire anemie met geringde sideroblasten CANDIDATE -en nl HP:0004828 IAO:0000115 A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts NOT_TRANSLATED -en nl HP:0004831 rdfs:label Recurrent thromboembolism Recidiverende trombo-embolismen CANDIDATE -en nl HP:0004831 IAO:0000115 Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream NOT_TRANSLATED -en nl HP:0004835 rdfs:label Microspherocytosis Microsferocytose CANDIDATE -en nl HP:0004835 IAO:0000115 The presence of erythrocytes that are sphere-shaped and reduced in size The presence of erythrocytes that are sphere-shaped and reduced in size NOT_TRANSLATED -en nl HP:0004836 rdfs:label Acute promyelocytic leukemia Acute promyelocytenleukemie CANDIDATE -en nl HP:0004836 IAO:0000115 A type of acute myeloid leukemia in which abnormal promyelocytes predominate A type of acute myeloid leukemia in which abnormal promyelocytes predominate NOT_TRANSLATED -en nl HP:0004839 rdfs:label Pyropoikilocytosis Pyropoikilocytose CANDIDATE -en nl HP:0004839 IAO:0000115 A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn NOT_TRANSLATED -en nl HP:0004840 rdfs:label Hypochromic microcytic anemia Hypochrome microcytaire anemie CANDIDATE -en nl HP:0004840 IAO:0000115 A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes NOT_TRANSLATED -en nl HP:0004841 rdfs:label Reduced factor XII activity Verminderde activiteit van factor XII CANDIDATE -en nl HP:0004841 IAO:0000115 Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade NOT_TRANSLATED -en nl HP:0004844 rdfs:label Coombs-positive hemolytic anemia Coombs-positieve hemolytisch anemie CANDIDATE -en nl HP:0004844 IAO:0000115 A type of hemolytic anemia in which the Coombs test is positive A type of hemolytic anemia in which the Coombs test is positive NOT_TRANSLATED -en nl HP:0004845 rdfs:label Acute monocytic leukemia Acute monocytaire leukemie CANDIDATE -en nl HP:0004845 IAO:0000115 The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation NOT_TRANSLATED -en nl HP:0004846 rdfs:label Prolonged bleeding after surgery Langdurig bloeden na chirurgie CANDIDATE -en nl HP:0004846 IAO:0000115 Bleeding that persists longer than the normal time following a surgical procedure Bleeding that persists longer than the normal time following a surgical procedure NOT_TRANSLATED -en nl HP:0004848 rdfs:label Ph-positive acute lymphoblastic leukemia Ph-positieve acute lymfatische leukemie CANDIDATE -en nl HP:0004848 IAO:0000115 A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity NOT_TRANSLATED -en nl HP:0004850 rdfs:label Recurrent deep vein thrombosis Terugkerende diep-veneuze trombose CANDIDATE -en nl HP:0004850 IAO:0000115 Repeated episodes of the formation of a blot clot in a deep vein Repeated episodes of the formation of a blot clot in a deep vein NOT_TRANSLATED -en nl HP:0004851 rdfs:label Folate-responsive megaloblastic anemia Foliumzuur-responsieve megaloblastaire anemie CANDIDATE -en nl HP:0004851 IAO:0000115 A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate NOT_TRANSLATED -en nl HP:0004852 rdfs:label Reduced leukocyte alkaline phosphatase Verminderde alkalisch fosfatase van de leukocyten CANDIDATE -en nl HP:0004852 IAO:0000115 Decreased alkaline phosphatase measured within leukocytes Decreased alkaline phosphatase measured within leukocytes NOT_TRANSLATED -en nl HP:0004854 rdfs:label Intermittent thrombocytopenia Intermitterende trombocytopenie CANDIDATE -en nl HP:0004854 IAO:0000115 Reduced platelet count that occurs sporadically, i.e., it comes and goes Reduced platelet count that occurs sporadically, i.e., it comes and goes NOT_TRANSLATED -en nl HP:0004855 rdfs:label Reduced protein S activity Verminderde proteïne S activiteit CANDIDATE -en nl HP:0004855 IAO:0000115 An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C NOT_TRANSLATED -en nl HP:0004856 rdfs:label Normochromic microcytic anemia Normochrome microcytaire anemie CANDIDATE -en nl HP:0004856 IAO:0000115 A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes NOT_TRANSLATED -en nl HP:0004857 rdfs:label Hyperchromic macrocytic anemia Hyperchrome macrocytaire anemie CANDIDATE -en nl HP:0004857 IAO:0000115 A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin NOT_TRANSLATED -en nl HP:0004859 rdfs:label Amegakaryocytic thrombocytopenia Amegakaryocytische trombocytopenische CANDIDATE -en nl HP:0004859 IAO:0000115 Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes NOT_TRANSLATED -en nl HP:0004860 rdfs:label Thiamine-responsive megaloblastic anemia Thiamine-responsieve megaloblastaire anemie CANDIDATE -en nl HP:0004860 IAO:0000115 A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine NOT_TRANSLATED -en nl HP:0004861 rdfs:label Refractory macrocytic anemia Refractoire macrocytaire anemie CANDIDATE -en nl HP:0004863 rdfs:label Compensated hemolytic anemia Gecompenseerde hemolytische anemie CANDIDATE -en nl HP:0004864 rdfs:label Refractory sideroblastic anemia Refractoire sideroblastaire anemie CANDIDATE -en nl HP:0004864 IAO:0000115 A type of sideroblastic anemia that is not responsive to treatment A type of sideroblastic anemia that is not responsive to treatment NOT_TRANSLATED -en nl HP:0004866 rdfs:label Impaired ADP-induced platelet aggregation Verminderde ADP-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0004866 IAO:0000115 Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP NOT_TRANSLATED -en nl HP:0004870 rdfs:label Chronic hemolytic anemia Chronische hemolytische anemie CANDIDATE -en nl HP:0004870 IAO:0000115 An chronic form of hemolytic anemia An chronic form of hemolytic anemia NOT_TRANSLATED -en nl HP:0004871 rdfs:label Perineal fistula Peri-anale fistel CANDIDATE -en nl HP:0004871 IAO:0000115 The presence of a fistula between the bowel and the perineum The presence of a fistula between the bowel and the perineum NOT_TRANSLATED -en nl HP:0004872 rdfs:label Incisional hernia Littekenbreuk CANDIDATE -en nl HP:0004872 IAO:0000115 An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound NOT_TRANSLATED -en nl HP:0004875 rdfs:label Neonatal inspiratory stridor Neonatale inspiratoire stridor CANDIDATE -en nl HP:0004876 rdfs:label Spontaneous neonatal pneumothorax Spontane neonatale pneumothorax CANDIDATE -en nl HP:0004876 IAO:0000115 Pneumothorax occurring neonatally without traumatic injury to the chest or lung Pneumothorax occurring neonatally without traumatic injury to the chest or lung NOT_TRANSLATED -en nl HP:0004878 rdfs:label Intercostal muscle weakness Intercostale spierzwakte CANDIDATE -en nl HP:0004878 IAO:0000115 Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall NOT_TRANSLATED -en nl HP:0004879 rdfs:label Intermittent hyperventilation Intermitterende hyperventilatie CANDIDATE -en nl HP:0004879 IAO:0000115 Episodic hyperventilation Episodic hyperventilation NOT_TRANSLATED -en nl HP:0004880 rdfs:label Respiratory infections in early life Infecties van de luchtwegen in vroege leven CANDIDATE -en nl HP:0004880 IAO:0000115 Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections NOT_TRANSLATED -en nl HP:0004881 rdfs:label Episodic hypoventilation Episodische hypoventilatie CANDIDATE -en nl HP:0004885 rdfs:label Episodic respiratory distress Episodische respiratoire nood CANDIDATE -en nl HP:0004886 rdfs:label Congenital laryngeal stridor Congenitale laryngeale stridor CANDIDATE -en nl HP:0004887 rdfs:label Respiratory failure requiring assisted ventilation Respiratoir falen, waarvoor ventilatie CANDIDATE -en nl HP:0004887 IAO:0000115 A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation NOT_TRANSLATED -en nl HP:0004889 rdfs:label Intermittent episodes of respiratory insufficiency due to muscle weakness Intermitterende episoden van respiratoire insufficiëntie als gevolg van spierzwakte CANDIDATE -en nl HP:0004890 rdfs:label Elevated pulmonary artery pressure Verhoogde druk in arteria pulmonalis CANDIDATE -en nl HP:0004890 IAO:0000115 An abnormally elevated blood pressure in the circulation of the pulmonary artery An abnormally elevated blood pressure in the circulation of the pulmonary artery NOT_TRANSLATED -en nl HP:0004891 rdfs:label Recurrent infections due to aspiration Recidiverende infecties als gevolg van aspiratie CANDIDATE -en nl HP:0004891 IAO:0000115 Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration NOT_TRANSLATED -en nl HP:0004894 rdfs:label Laryngotracheal stenosis Laryngotracheale stenose CANDIDATE -en nl HP:0004897 rdfs:label Stress/infection-induced lactic acidosis Stress/infectie-geïnduceerde lactaat acidose CANDIDATE -en nl HP:0004897 IAO:0000115 A form of lactic acidemia that occurs in relation to stress or infection A form of lactic acidemia that occurs in relation to stress or infection NOT_TRANSLATED -en nl HP:0004898 rdfs:label Persistent lactic acidosis Persisterende lactaat acidose CANDIDATE -en nl HP:0004898 IAO:0000115 A continuous form of lactic acidemia A continuous form of lactic acidemia NOT_TRANSLATED -en nl HP:0004900 rdfs:label Severe lactic acidosis Ernstige lactaat acidose CANDIDATE -en nl HP:0004900 IAO:0000115 A severe form of lactic acidemia A severe form of lactic acidemia NOT_TRANSLATED -en nl HP:0004901 rdfs:label Exercise-induced lactic acidemia Inspanning-geïnduceerde lactaat acidemie CANDIDATE -en nl HP:0004901 IAO:0000115 A form of lactic acidemia that occurs following exercise or exertion A form of lactic acidemia that occurs following exercise or exertion NOT_TRANSLATED -en nl HP:0004902 rdfs:label Congenital lactic acidosis Congenitale lactaat acidose CANDIDATE -en nl HP:0004902 IAO:0000115 A form of lactic acidemia with congenital onset A form of lactic acidemia with congenital onset NOT_TRANSLATED -en nl HP:0004904 rdfs:label Maturity-onset diabetes of the young Maturity-onset diabetes of the young CANDIDATE -en nl HP:0004904 IAO:0000115 The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells NOT_TRANSLATED -en nl HP:0004905 rdfs:label Low levels of vitamin A Vitamine A-deficiëntie CANDIDATE -en nl HP:0004905 IAO:0000115 A reduced concentration of vitamin A A reduced concentration of vitamin A NOT_TRANSLATED -en nl HP:0004906 rdfs:label Hypernatremic dehydration Hypernatremische dehydratie CANDIDATE -en nl HP:0004909 rdfs:label Hypokalemic hypochloremic metabolic alkalosis Hypokalemische hypochloremische metabole alkalose CANDIDATE -en nl HP:0004910 rdfs:label Bicarbonate-wasting renal tubular acidosis Bicarbonaat-verliezende renale tubulaire acidose CANDIDATE -en nl HP:0004911 rdfs:label Episodic metabolic acidosis Episodische metabole acidose CANDIDATE -en nl HP:0004911 IAO:0000115 Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids NOT_TRANSLATED -en nl HP:0004912 rdfs:label Hypophosphatemic rickets Hypofosfatemische rachitis CANDIDATE -en nl HP:0004913 rdfs:label Intermittent lactic acidemia Intermitterende lactaat acidemie CANDIDATE -en nl HP:0004913 IAO:0000115 An intermittent (discontinuous) form of lactic acidemia An intermittent (discontinuous) form of lactic acidemia NOT_TRANSLATED -en nl HP:0004914 rdfs:label Recurrent infantile hypoglycemia Terugkerende infantiele hypoglykemie CANDIDATE -en nl HP:0004914 IAO:0000115 Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period NOT_TRANSLATED -en nl HP:0004915 rdfs:label Impairment of galactose metabolism Stoornis in galactose metabolisme CANDIDATE -en nl HP:0004915 IAO:0000115 An impairment of galactose metabolism An impairment of galactose metabolism NOT_TRANSLATED -en nl HP:0004916 rdfs:label Generalized distal tubular acidosis Gegeneraliseerde distale tubulaire acidose CANDIDATE -en nl HP:0004918 rdfs:label Hyperchloremic metabolic acidosis Hyperchloremische metabole acidose CANDIDATE -en nl HP:0004918 IAO:0000115 A form of metabolic acidosis with increased serum chloride levels A form of metabolic acidosis with increased serum chloride levels NOT_TRANSLATED -en nl HP:0004919 rdfs:label Galactose intolerance Galactose intolerantie CANDIDATE -en nl HP:0004920 rdfs:label Phenylpyruvic acidemia Fenylpyruvaat acidemie CANDIDATE -en nl HP:0004921 rdfs:label Abnormal magnesium concentration Afwijking van magnesium homeostase CANDIDATE -en nl HP:0004921 IAO:0000115 An abnormality of magnesium ion homeostasis An abnormality of magnesium ion homeostasis NOT_TRANSLATED -en nl HP:0004922 rdfs:label Atypical hyperphenylalaninemia Atypische hyperfenylalaninemie CANDIDATE -en nl HP:0004923 rdfs:label Hyperphenylalaninemia Hyperfenylalaninemie CANDIDATE -en nl HP:0004923 IAO:0000115 An increased concentration of L-phenylalanine in the blood An increased concentration of L-phenylalanine in the blood NOT_TRANSLATED -en nl HP:0004924 rdfs:label Abnormal oral glucose tolerance Gestoorde orale glucose tolerantie CANDIDATE -en nl HP:0004924 IAO:0000115 An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose NOT_TRANSLATED -en nl HP:0004925 rdfs:label Chronic lactic acidosis Chronische lactaat acidose CANDIDATE -en nl HP:0004925 IAO:0000115 A chronic form of lactic acidemia A chronic form of lactic acidemia NOT_TRANSLATED -en nl HP:0004926 rdfs:label Orthostatic hypotension due to autonomic dysfunction Orthostatische hypotensie vanwege autonome dysfunctie CANDIDATE -en nl HP:0004927 rdfs:label Pulmonary artery dilatation Arteria pulmonalis dilatatie CANDIDATE -en nl HP:0004927 IAO:0000115 An abnormal widening of the diameter of the pulmonary artery An abnormal widening of the diameter of the pulmonary artery NOT_TRANSLATED -en nl HP:0004930 rdfs:label Abnormality of the pulmonary vasculature Afwijking van de pulmonale vasculatuur CANDIDATE -en nl HP:0004931 rdfs:label Arteriosclerosis of small cerebral arteries Arteriosclerose van kleine cerebrale arteriën CANDIDATE -en nl HP:0004931 IAO:0000115 Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain NOT_TRANSLATED -en nl HP:0004933 rdfs:label Ascending aortic dissection Aorta ascendens dissectie CANDIDATE -en nl HP:0004933 IAO:0000115 A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space NOT_TRANSLATED -en nl HP:0004934 rdfs:label Vascular calcification Vasculaire calcificatie CANDIDATE -en nl HP:0004934 IAO:0000115 Abnormal calcification of the vasculature Abnormal calcification of the vasculature NOT_TRANSLATED -en nl HP:0004935 rdfs:label Pulmonary artery atresia Arteria pulmonalis atresie CANDIDATE -en nl HP:0004935 IAO:0000115 A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery NOT_TRANSLATED -en nl HP:0004936 rdfs:label Venous thrombosis Veneuze trombose CANDIDATE -en nl HP:0004936 IAO:0000115 Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow NOT_TRANSLATED -en nl HP:0004937 rdfs:label Pulmonary artery aneurysm Arteria pulmonalis aneurysma CANDIDATE -en nl HP:0004937 IAO:0000115 An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery NOT_TRANSLATED -en nl HP:0004938 rdfs:label Tortuous cerebral arteries Kronkelende cerebrale arteriën CANDIDATE -en nl HP:0004938 IAO:0000115 Excessive bending, twisting, and winding of a cerebral artery Excessive bending, twisting, and winding of a cerebral artery NOT_TRANSLATED -en nl HP:0004940 rdfs:label Generalized arterial calcification Gegeneraliseerde arteriële calcificatie CANDIDATE -en nl HP:0004940 IAO:0000115 Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body NOT_TRANSLATED -en nl HP:0004941 rdfs:label Extrahepatic portal hypertension Extrahepatische portale hypertensie CANDIDATE -en nl HP:0004941 IAO:0000115 Increased pressure in the pre-hepatic portal vein Increased pressure in the pre-hepatic portal vein NOT_TRANSLATED -en nl HP:0004942 rdfs:label Aortic aneurysm Aorta-aneurysma CANDIDATE -en nl HP:0004942 IAO:0000115 Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter NOT_TRANSLATED -en nl HP:0004943 rdfs:label Accelerated atherosclerosis Versnelde atherosclerose CANDIDATE -en nl HP:0004943 IAO:0000115 Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors NOT_TRANSLATED -en nl HP:0004944 rdfs:label Dilatation of the cerebral artery Dilatatie van de cerebrale arterie CANDIDATE -en nl HP:0004944 IAO:0000115 The presence of a localized dilatation or ballooning of a cerebral artery The presence of a localized dilatation or ballooning of a cerebral artery NOT_TRANSLATED -en nl HP:0004945 rdfs:label Extracranial internal carotid artery dissection Extracraniale arteria carotis interna dissectie CANDIDATE -en nl HP:0004945 IAO:0000115 A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall NOT_TRANSLATED -en nl HP:0004947 rdfs:label Arteriovenous fistula Arterioveneuze fistel CANDIDATE -en nl HP:0004947 IAO:0000115 An abnormal connection between an artery and vein An abnormal connection between an artery and vein NOT_TRANSLATED -en nl HP:0004948 rdfs:label Vascular tortuosity Vasculaire kronkelingheid CANDIDATE -en nl HP:0004948 IAO:0000115 Abnormal twisting of arteries or veins Abnormal twisting of arteries or veins NOT_TRANSLATED -en nl HP:0004950 rdfs:label Peripheral arterial stenosis Perifere arteriële stenose CANDIDATE -en nl HP:0004950 IAO:0000115 Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication NOT_TRANSLATED -en nl HP:0004952 rdfs:label Pulmonary arteriovenous fistulas Pulmonale arterioveneuze fistels CANDIDATE -en nl HP:0004952 IAO:0000115 A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed NOT_TRANSLATED -en nl HP:0004955 rdfs:label Generalized arterial tortuosity Gegeneraliseerde arteriële kronkeligheid CANDIDATE -en nl HP:0004955 IAO:0000115 Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries NOT_TRANSLATED -en nl HP:0004959 rdfs:label Descending thoracic aorta aneurysm Aneurysma van de thoracale aorta descendens CANDIDATE -en nl HP:0004959 IAO:0000115 An abnormal localized widening (dilatation) of the descending thoracic aorta An abnormal localized widening (dilatation) of the descending thoracic aorta NOT_TRANSLATED -en nl HP:0004960 rdfs:label Absent pulmonary artery Afwezige arteria pulmonalis CANDIDATE -en nl HP:0004960 IAO:0000115 A congenital defect with aplasia (absence) of one of the right or left pulmonary artery A congenital defect with aplasia (absence) of one of the right or left pulmonary artery NOT_TRANSLATED -en nl HP:0004961 rdfs:label Pulmonary artery sling Pulmonary artery sling NOT_TRANSLATED -en nl HP:0004961 IAO:0000115 An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum NOT_TRANSLATED -en nl HP:0004962 rdfs:label Thoracic aorta calcification Thoracale aorta calcificatie CANDIDATE -en nl HP:0004962 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta NOT_TRANSLATED -en nl HP:0004963 rdfs:label Calcification of the aorta Calcificatie van de aorta CANDIDATE -en nl HP:0004963 IAO:0000115 Calcification, that is, pathological deposition of calcium salts in the aorta Calcification, that is, pathological deposition of calcium salts in the aorta NOT_TRANSLATED -en nl HP:0004964 rdfs:label Pulmonary arterial medial hypertrophy Pulmonale arteriële mediale hypertrofie CANDIDATE -en nl HP:0004964 IAO:0000115 Increase in mass of the tunica media of the arteries in the pulmonary circulation Increase in mass of the tunica media of the arteries in the pulmonary circulation NOT_TRANSLATED -en nl HP:0004966 rdfs:label Medial calcification of large arteries Mediale calcificatie van de grote arteriën CANDIDATE -en nl HP:0004966 IAO:0000115 Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries NOT_TRANSLATED -en nl HP:0004968 rdfs:label Recurrent cerebral hemorrhage Recidverende hersenbloeding CANDIDATE -en nl HP:0004968 IAO:0000115 Recurrent bleeding into the parenchyma of the brain Recurrent bleeding into the parenchyma of the brain NOT_TRANSLATED -en nl HP:0004969 rdfs:label Peripheral pulmonary artery stenosis Perifere arteria pulmonalis stenose CANDIDATE -en nl HP:0004969 IAO:0000115 Stenosis of a peripheral branch of the pulmonary artery Stenosis of a peripheral branch of the pulmonary artery NOT_TRANSLATED -en nl HP:0004970 rdfs:label Ascending tubular aorta aneurysm Tubulair aneurysma aorta ascendens CANDIDATE -en nl HP:0004970 IAO:0000115 An abnormal localized widening (dilatation) of the tubular part of the ascending aorta An abnormal localized widening (dilatation) of the tubular part of the ascending aorta NOT_TRANSLATED -en nl HP:0004971 rdfs:label Pulmonary artery hypoplasia Hypoplasie van de arteria pulmonalis CANDIDATE -en nl HP:0004971 IAO:0000115 Underdevelopment of the pulmonary artery Underdevelopment of the pulmonary artery NOT_TRANSLATED -en nl HP:0004972 rdfs:label Elevated mean arterial pressure Verhoogde gemiddelde arteriële druk CANDIDATE -en nl HP:0004972 IAO:0000115 An abnormal increase in the average blood pressure in an individual during a single cardiac cycle An abnormal increase in the average blood pressure in an individual during a single cardiac cycle NOT_TRANSLATED -en nl HP:0004974 rdfs:label Coarctation of abdominal aorta Coarctatie van de abdominale aorta CANDIDATE -en nl HP:0004974 IAO:0000115 Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta NOT_TRANSLATED -en nl HP:0004975 rdfs:label Erlenmeyer flask deformity of the femurs Erlenmeyer flask deformity van de femurs CANDIDATE -en nl HP:0004975 IAO:0000115 Flaring of distal femur Flaring of distal femur NOT_TRANSLATED -en nl HP:0004976 rdfs:label Knee dislocation Knie dislocatie CANDIDATE -en nl HP:0004977 rdfs:label Bilateral radial aplasia Bilaterale aplasie van de radius CANDIDATE -en nl HP:0004977 IAO:0000115 Missing radius bone on both sides associated with congenital failure of development Missing radius bone on both sides associated with congenital failure of development NOT_TRANSLATED -en nl HP:0004979 rdfs:label Metaphyseal sclerosis Metafysaire sclerose CANDIDATE -en nl HP:0004979 IAO:0000115 Abnormally increased density of metaphyseal bone Abnormally increased density of metaphyseal bone NOT_TRANSLATED -en nl HP:0004980 rdfs:label Metaphyseal rarefaction Verdunning van de metafyse CANDIDATE -en nl HP:0004980 IAO:0000115 Reduction in density of metaphyseal bony tissue Reduction in density of metaphyseal bony tissue NOT_TRANSLATED -en nl HP:0004981 rdfs:label Prominent styloid process of ulna Prominent processus styloideus van de ulna CANDIDATE -en nl HP:0004987 rdfs:label Mesomelic leg shortening Mesomelische been verkorting CANDIDATE -en nl HP:0004987 IAO:0000115 Shortening of the middle parts of the leg in relation to the upper and terminal segments Shortening of the middle parts of the leg in relation to the upper and terminal segments NOT_TRANSLATED -en nl HP:0004990 rdfs:label Epiphyseal streaking Epifysaire strepen CANDIDATE -en nl HP:0004991 rdfs:label Rhizomelic arm shortening Rhizomelische arm verkorting CANDIDATE -en nl HP:0004991 IAO:0000115 Disproportionate shortening of the proximal segment of the arm (i.e. the humerus) Disproportionate shortening of the proximal segment of the arm (i.e. the humerus) NOT_TRANSLATED -en nl HP:0004993 rdfs:label Slender long bones with narrow diaphyses Slanke lange botten met smalle diafysen CANDIDATE -en nl HP:0004993 IAO:0000115 Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones NOT_TRANSLATED -en nl HP:0004997 rdfs:label Multicentric ossification of proximal humeral epiphyses Multicentrische ossificatie van proximale epifsyen van humerus CANDIDATE -en nl HP:0005001 rdfs:label Recurrent patellar dislocation Terugkerende patellaire dislocatie CANDIDATE -en nl HP:0005001 IAO:0000115 Patellar dislocation occurring repeated times Patellar dislocation occurring repeated times NOT_TRANSLATED -en nl HP:0005003 rdfs:label Aplasia/Hypoplasia of the capital femoral epiphysis Aplasia/Hypoplasie van de epifyse van de femurkop CANDIDATE -en nl HP:0005003 IAO:0000115 Absence or underdevelopment of the proximal epiphysis of the femur Absence or underdevelopment of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0005004 rdfs:label Flattened proximal radial epiphyses Afgevlakte proximale epifyse van de radius CANDIDATE -en nl HP:0005004 IAO:0000115 An abnormally flat form of the proximal epiphysis of the radius An abnormally flat form of the proximal epiphysis of the radius NOT_TRANSLATED -en nl HP:0005005 rdfs:label Femoral bowing present at birth, straightening with time Bowing van de femur aanwezig tijdens de geboorte, rechttrekkend met de tijd CANDIDATE -en nl HP:0005005 IAO:0000115 Congenital onset bending or abnormal curvature of the femur that normalizes with age Congenital onset bending or abnormal curvature of the femur that normalizes with age NOT_TRANSLATED -en nl HP:0005008 rdfs:label Large joint dislocations Dislocatie groot gewricht CANDIDATE -en nl HP:0005009 rdfs:label Dumbbell-shaped humerus Halter-vormige humerus CANDIDATE -en nl HP:0005009 IAO:0000115 The humerus is shortened and displays flaring (widening) of the metaphyses The humerus is shortened and displays flaring (widening) of the metaphyses NOT_TRANSLATED -en nl HP:0005010 rdfs:label Osteomyelitis leading to amputation due to slow healing fractures Osteomyelitis leidend tot amputatie vanwege langzame genezing fracturen CANDIDATE -en nl HP:0005011 rdfs:label Mesomelic arm shortening Mesomelische arm verkorting CANDIDATE -en nl HP:0005011 IAO:0000115 Shortening of the middle parts of the arm in relation to the upper and terminal segments Shortening of the middle parts of the arm in relation to the upper and terminal segments NOT_TRANSLATED -en nl HP:0005013 rdfs:label Dysplastic distal radial epiphyses Dysplastische distale epifyse van de radius CANDIDATE -en nl HP:0005013 IAO:0000115 Abnormally developed (dysplastic) distal epiphysis of the radius Abnormally developed (dysplastic) distal epiphysis of the radius NOT_TRANSLATED -en nl HP:0005017 rdfs:label Polyarticular chondrocalcinosis Poly-articulaire chondrocalcinose CANDIDATE -en nl HP:0005019 rdfs:label Diaphyseal thickening Diafysaire verdikking CANDIDATE -en nl HP:0005021 rdfs:label Bilateral elbow dislocations Bilaterale elleboog dislocaties CANDIDATE -en nl HP:0005025 rdfs:label Hypoplastic distal humeri Hypoplastische distale humeri CANDIDATE -en nl HP:0005025 IAO:0000115 Underdevelopment of the distal portion of the humerus Underdevelopment of the distal portion of the humerus NOT_TRANSLATED -en nl HP:0005026 rdfs:label Mesomelic/rhizomelic limb shortening Mesomelische/rhizomelische ledemaat verkorting CANDIDATE -en nl HP:0005028 rdfs:label Widened proximal tibial metaphyses Verwijde proximale metafyse van de tibia CANDIDATE -en nl HP:0005033 rdfs:label Distal ulnar hypoplasia Distale ulnaire hypoplasie CANDIDATE -en nl HP:0005033 IAO:0000115 Underdevelopment of the distal portion of the ulna Underdevelopment of the distal portion of the ulna NOT_TRANSLATED -en nl HP:0005035 rdfs:label Shortening of all phalanges of the toes Verkorting van alle falangen van de tenen CANDIDATE -en nl HP:0005035 IAO:0000115 Developmental hypoplasia (shortening) of all phalanges of the foot Developmental hypoplasia (shortening) of all phalanges of the foot NOT_TRANSLATED -en nl HP:0005036 rdfs:label Unilateral ulnar hypoplasia Unilaterale ulnaire hypoplasie CANDIDATE -en nl HP:0005036 IAO:0000115 Underdevelopment of the ulna on only one side Underdevelopment of the ulna on only one side NOT_TRANSLATED -en nl HP:0005037 rdfs:label Proximal radio-ulnar synostosis Proximale radio-ulnaire synostose CANDIDATE -en nl HP:0005037 IAO:0000115 An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna NOT_TRANSLATED -en nl HP:0005039 rdfs:label Multiple long-bone exostoses Multipele lange-bot exostosen CANDIDATE -en nl HP:0005039 IAO:0000115 Multiple exostoses originating in long bones Multiple exostoses originating in long bones NOT_TRANSLATED -en nl HP:0005041 rdfs:label Irregular capital femoral epiphysis Irregulaire epifyse van de femurkop CANDIDATE -en nl HP:0005041 IAO:0000115 Irregular surface of the normally relatively smooth capital femoral epiphysis Irregular surface of the normally relatively smooth capital femoral epiphysis NOT_TRANSLATED -en nl HP:0005042 rdfs:label Irregular, rachitic-like metaphyses Irregulaire, rachitis-like metaphysen CANDIDATE -en nl HP:0005043 rdfs:label Proximal humeral metaphyseal irregularity Proximale onregelmatigheid van de metafyse van de humerus CANDIDATE -en nl HP:0005043 IAO:0000115 Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder) Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder) NOT_TRANSLATED -en nl HP:0005045 rdfs:label Diaphyseal cortical sclerosis Diafysaire corticale sectio caesarea CANDIDATE -en nl HP:0005045 IAO:0000115 An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0005048 rdfs:label Synostosis of carpal bones Synostose van de carpalia CANDIDATE -en nl HP:0005050 rdfs:label Anterolateral radial head dislocation Antero-laterale radiuskop dislocatie CANDIDATE -en nl HP:0005050 IAO:0000115 A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction NOT_TRANSLATED -en nl HP:0005054 rdfs:label Metaphyseal spurs Metafysaire uitlopers CANDIDATE -en nl HP:0005054 IAO:0000115 Bony outgrowths that extend laterally from the margin of the metaphysis Bony outgrowths that extend laterally from the margin of the metaphysis NOT_TRANSLATED -en nl HP:0005059 rdfs:label Arthralgia/arthritis Artralgie/artritis CANDIDATE -en nl HP:0005060 rdfs:label Limited elbow flexion/extension Beperkte elleboog flexie/extensie CANDIDATE -en nl HP:0005063 rdfs:label Fragmented, irregular epiphyses Gefragmenteerde, irregulaire epifysen CANDIDATE -en nl HP:0005066 rdfs:label Cone-shaped epiphyses fused within their metaphyses Kegel-vormige epifysen gefuseerd binnen hun metafysen CANDIDATE -en nl HP:0005067 rdfs:label Proximal fibular overgrowth Proximale fibulaire overgroei CANDIDATE -en nl HP:0005067 IAO:0000115 Overgrowth of the proximal part of the fibula Overgrowth of the proximal part of the fibula NOT_TRANSLATED -en nl HP:0005068 rdfs:label Absent styloid process of ulna Afwezig processus styloideus ulnae CANDIDATE -en nl HP:0005069 rdfs:label Rhizo-meso-acromelic limb shortening Rhizo-meso-acromelische ledemaat verkorting CANDIDATE -en nl HP:0005070 rdfs:label Proximal radial head dislocation Proximale radiuskop dislocatie CANDIDATE -en nl HP:0005070 IAO:0000115 A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction NOT_TRANSLATED -en nl HP:0005072 rdfs:label Hyperextensibility at wrists Hyperextensibiliteit van polsen CANDIDATE -en nl HP:0005072 IAO:0000115 The ability of the wrist joints to move beyond their normal range of motion The ability of the wrist joints to move beyond their normal range of motion NOT_TRANSLATED -en nl HP:0005084 rdfs:label Anterior radial head dislocation Anterieure radiuskop dislocatie CANDIDATE -en nl HP:0005084 IAO:0000115 A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction NOT_TRANSLATED -en nl HP:0005085 rdfs:label Limited knee flexion/extension Beperkte knie flexie/extensie CANDIDATE -en nl HP:0005085 IAO:0000115 A limited ability of the knee joint to perform extension and flexion A limited ability of the knee joint to perform extension and flexion NOT_TRANSLATED -en nl HP:0005086 rdfs:label Knee osteoarthritis Knie osteoartritis CANDIDATE -en nl HP:0005089 rdfs:label Abnormal metaphyseal trabeculation Afwijkende metafysaire trabeculatie CANDIDATE -en nl HP:0005089 IAO:0000115 An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone NOT_TRANSLATED -en nl HP:0005090 rdfs:label Lateral femoral bowing Bowing van laterale femur CANDIDATE -en nl HP:0005090 IAO:0000115 A lateral bending or abnormal curvature of the femur A lateral bending or abnormal curvature of the femur NOT_TRANSLATED -en nl HP:0005092 rdfs:label Streaky metaphyseal sclerosis Streaky metaphyseal sclerosis NOT_TRANSLATED -en nl HP:0005092 IAO:0000115 The presence of streaks (bands) of abnormally increased density of metaphyseal bone The presence of streaks (bands) of abnormally increased density of metaphyseal bone NOT_TRANSLATED -en nl HP:0005093 rdfs:label Absent proximal radial epiphyses Afwezige proximale epifysen van de radius CANDIDATE -en nl HP:0005093 IAO:0000115 Absence of the proximal radial epiphysis Absence of the proximal radial epiphysis NOT_TRANSLATED -en nl HP:0005096 rdfs:label Distal femoral bowing Bowing van distale femur CANDIDATE -en nl HP:0005096 IAO:0000115 A bending or abnormal curvature of the distal portion of the femur A bending or abnormal curvature of the distal portion of the femur NOT_TRANSLATED -en nl HP:0005100 rdfs:label Premature birth following premature rupture of fetal membranes Prematuriteit na prematuur breken van de foetale vliezen CANDIDATE -en nl HP:0005101 rdfs:label High-frequency hearing impairment Hoge-frequentie slechthorendheid CANDIDATE -en nl HP:0005101 IAO:0000115 A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz) A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz) NOT_TRANSLATED -en nl HP:0005102 rdfs:label Cochlear degeneration Cochleaire degeneratie CANDIDATE -en nl HP:0005102 IAO:0000115 Deterioration or loss of the tissues of the cochlea Deterioration or loss of the tissues of the cochlea NOT_TRANSLATED -en nl HP:0005103 rdfs:label Calcification of the auricular cartilage Calcificatie van auriculair kraakbeen CANDIDATE -en nl HP:0005103 IAO:0000115 Ossification affecting the external ear cartilage Ossification affecting the external ear cartilage NOT_TRANSLATED -en nl HP:0005104 rdfs:label Hypoplastic nasal septum Hypoplastisch septum nasi CANDIDATE -en nl HP:0005104 IAO:0000115 Underdevelopment of the nasal septum Underdevelopment of the nasal septum NOT_TRANSLATED -en nl HP:0005105 rdfs:label Abnormal nasal morphology Afwijkende nasale morfologie CANDIDATE -en nl HP:0005106 rdfs:label Abnormality of the vertebral endplates Afwijking van de vertebrale eindplaten CANDIDATE -en nl HP:0005106 IAO:0000115 Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs NOT_TRANSLATED -en nl HP:0005107 rdfs:label Abnormal sacrum morphology Afwijking van het sacrum CANDIDATE -en nl HP:0005107 IAO:0000115 An abnormality of the sacral bone An abnormality of the sacral bone NOT_TRANSLATED -en nl HP:0005108 rdfs:label Abnormal intervertebral disk morphology Afwijking van de intervertebrale schijf CANDIDATE -en nl HP:0005108 IAO:0000115 Any structural abnormality of the intervertebral disk Any structural abnormality of the intervertebral disk NOT_TRANSLATED -en nl HP:0005109 rdfs:label Abnormality of the Achilles tendon Afwijking van de achillespees CANDIDATE -en nl HP:0005109 IAO:0000115 An abnormality of the Achilles tendon An abnormality of the Achilles tendon NOT_TRANSLATED -en nl HP:0005110 rdfs:label Atrial fibrillation Atriumfibrilleren CANDIDATE -en nl HP:0005110 IAO:0000115 An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute NOT_TRANSLATED -en nl HP:0005112 rdfs:label Abdominal aortic aneurysm Abdominaal aorta aneurysma CANDIDATE -en nl HP:0005112 IAO:0000115 An abnormal localized widening (dilatation) of the abdominal aorta An abnormal localized widening (dilatation) of the abdominal aorta NOT_TRANSLATED -en nl HP:0005113 rdfs:label Aortic arch aneurysm Aortaboog aneurysma CANDIDATE -en nl HP:0005113 IAO:0000115 An abnormal localized widening (dilatation) of the aortic arch An abnormal localized widening (dilatation) of the aortic arch NOT_TRANSLATED -en nl HP:0005115 rdfs:label Supraventricular arrhythmia Supraventriculaire aritmie CANDIDATE -en nl HP:0005115 IAO:0000115 A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm NOT_TRANSLATED -en nl HP:0005116 rdfs:label Arterial tortuosity Arteriële kronkeligheid CANDIDATE -en nl HP:0005116 IAO:0000115 Abnormal tortuous (i.e., twisted) form of arteries Abnormal tortuous (i.e., twisted) form of arteries NOT_TRANSLATED -en nl HP:0005117 rdfs:label Elevated diastolic blood pressure Verhoogde diastolische bloeddruk CANDIDATE -en nl HP:0005117 IAO:0000115 Abnormal increase in diastolic blood pressure Abnormal increase in diastolic blood pressure NOT_TRANSLATED -en nl HP:0005120 rdfs:label Abnormal cardiac atrium morphology Abnormale cardiaal atrium morfologie CANDIDATE -en nl HP:0005120 IAO:0000115 Any structural abnormality of a cardiac atrium Any structural abnormality of a cardiac atrium NOT_TRANSLATED -en nl HP:0005121 rdfs:label Posterior scalloping of vertebral bodies Posterieure uitstulping van wervellichamen CANDIDATE -en nl HP:0005121 IAO:0000115 An excessive concavity of the posterior surface of one or more vertebral bodies An excessive concavity of the posterior surface of one or more vertebral bodies NOT_TRANSLATED -en nl HP:0005129 rdfs:label Congenital hypertrophy of left ventricle Congenitale hypertrofie van de linkerventrikel CANDIDATE -en nl HP:0005132 rdfs:label Pericardial constriction Pericardiale constrictie CANDIDATE -en nl HP:0005132 IAO:0000115 Compression of the heart caused by rigid, thickened, or fused pericardial membranes Compression of the heart caused by rigid, thickened, or fused pericardial membranes NOT_TRANSLATED -en nl HP:0005133 rdfs:label Right ventricular dilatation Rechterventrikel dilatatie CANDIDATE -en nl HP:0005133 IAO:0000115 Enlargement of the chamber of the right ventricle Enlargement of the chamber of the right ventricle NOT_TRANSLATED -en nl HP:0005134 rdfs:label Absence of the pulmonary valve Afwezigheid van de pulmonale klep CANDIDATE -en nl HP:0005134 IAO:0000115 Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries NOT_TRANSLATED -en nl HP:0005135 rdfs:label Abnormal T-wave Afwijkende T-golf CANDIDATE -en nl HP:0005135 IAO:0000115 An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles NOT_TRANSLATED -en nl HP:0005136 rdfs:label Mitral annular calcification Mitrale annulaire verkalking CANDIDATE -en nl HP:0005136 IAO:0000115 Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus NOT_TRANSLATED -en nl HP:0005143 rdfs:label Anomalous origin of right pulmonary artery from ascending aorta Afwijkende oorsprong van rechter arteria pulmonalis van aorta ascendens CANDIDATE -en nl HP:0005143 IAO:0000115 The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery NOT_TRANSLATED -en nl HP:0005144 rdfs:label Ventricular septal hypertrophy Linker ventrikel septum hypertrofie CANDIDATE -en nl HP:0005144 IAO:0000115 The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle NOT_TRANSLATED -en nl HP:0005145 rdfs:label Coronary artery stenosis Coronair slagader stenose CANDIDATE -en nl HP:0005145 IAO:0000115 Abnormal narrowing of the coronary artery Abnormal narrowing of the coronary artery NOT_TRANSLATED -en nl HP:0005146 rdfs:label Cardiac valve calcification Verkalking van de hartklep CANDIDATE -en nl HP:0005146 IAO:0000115 Abnormal calcification of a cardiac valve Abnormal calcification of a cardiac valve NOT_TRANSLATED -en nl HP:0005147 rdfs:label Bidirectional ventricular ectopy Bidirectionele ventriculaire ectopie CANDIDATE -en nl HP:0005148 rdfs:label Pulmonary valve defects Pulmonale klep defecten CANDIDATE -en nl HP:0005148 IAO:0000115 Any defect in the valve connecting the heart and the pulmonary artery Any defect in the valve connecting the heart and the pulmonary artery NOT_TRANSLATED -en nl HP:0005150 rdfs:label Abnormal atrioventricular conduction Abnormale atrioventriculaire geleiding CANDIDATE -en nl HP:0005150 IAO:0000115 An impairment of the electrical continuity between the atria and ventricles An impairment of the electrical continuity between the atria and ventricles NOT_TRANSLATED -en nl HP:0005151 rdfs:label Preductal coarctation of the aorta Preductale coarctatie van de aorta CANDIDATE -en nl HP:0005151 IAO:0000115 Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch NOT_TRANSLATED -en nl HP:0005152 rdfs:label Histiocytoid cardiomyopathy Histiocytoïde cardiomyopathie CANDIDATE -en nl HP:0005152 IAO:0000115 A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells NOT_TRANSLATED -en nl HP:0005155 rdfs:label Ventricular escape rhythm Ventriculair escape-ritme CANDIDATE -en nl HP:0005155 IAO:0000115 A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms) A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms) NOT_TRANSLATED -en nl HP:0005156 rdfs:label Hypoplastic left atrium Hypoplastisch linker atrium CANDIDATE -en nl HP:0005156 IAO:0000115 Underdeveloped, small left heart atrium Underdeveloped, small left heart atrium NOT_TRANSLATED -en nl HP:0005157 rdfs:label Concentric hypertrophic cardiomyopathy Concentrische hypertrofische cardiomyopathie CANDIDATE -en nl HP:0005157 IAO:0000115 Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy NOT_TRANSLATED -en nl HP:0005160 rdfs:label Total anomalous pulmonary venous return Geheel afwijkende pulmonale veneuze return CANDIDATE -en nl HP:0005160 IAO:0000115 Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium NOT_TRANSLATED -en nl HP:0005162 rdfs:label Abnormal left ventricular function Linker ventrikel falen CANDIDATE -en nl HP:0005162 IAO:0000115 Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole NOT_TRANSLATED -en nl HP:0005164 rdfs:label Dysplastic pulmonary valve Dysplastische pulmonale klep CANDIDATE -en nl HP:0005164 IAO:0000115 A congenital malformation of the pulmonary valve characterized by leaflet deformation A congenital malformation of the pulmonary valve characterized by leaflet deformation NOT_TRANSLATED -en nl HP:0005165 rdfs:label Shortened PR interval Verkort PR interval CANDIDATE -en nl HP:0005165 IAO:0000115 Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long NOT_TRANSLATED -en nl HP:0005168 rdfs:label Elevated right atrial pressure Verhoogde rechter atriale druk CANDIDATE -en nl HP:0005168 IAO:0000115 An abnormal increase in magnitude of the pressure in the right atrium An abnormal increase in magnitude of the pressure in the right atrium NOT_TRANSLATED -en nl HP:0005170 rdfs:label Complete heart block with broad QRS complexes Volledig AV-blok met brede QRS-complexen CANDIDATE -en nl HP:0005170 IAO:0000115 A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex NOT_TRANSLATED -en nl HP:0005172 rdfs:label Left posterior fascicular block Linker posterior fasciculair blok CANDIDATE -en nl HP:0005172 IAO:0000115 Conduction block in the posterior division of the left bundle branch of the bundle of His Conduction block in the posterior division of the left bundle branch of the bundle of His NOT_TRANSLATED -en nl HP:0005174 rdfs:label Membranous subvalvular aortic stenosis Subvalvulaire membraneuze aortastenose CANDIDATE -en nl HP:0005174 IAO:0000115 Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency NOT_TRANSLATED -en nl HP:0005176 rdfs:label Dysplastic aortic valve Dysplastische aortaklep CANDIDATE -en nl HP:0005176 IAO:0000115 A congenital malformation of the aortic valve characterized by leaflet deformation A congenital malformation of the aortic valve characterized by leaflet deformation NOT_TRANSLATED -en nl HP:0005177 rdfs:label Premature arteriosclerosis Premature arteriosclerose CANDIDATE -en nl HP:0005177 IAO:0000115 Arteriosclerosis occurring at an age that is younger than usual Arteriosclerosis occurring at an age that is younger than usual NOT_TRANSLATED -en nl HP:0005178 rdfs:label Complete heart block with narrow QRS complexes Volledig AV-blok met smalle QRS-complexen CANDIDATE -en nl HP:0005178 IAO:0000115 A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex NOT_TRANSLATED -en nl HP:0005180 rdfs:label Tricuspid regurgitation Tricuspide regurgitatie CANDIDATE -en nl HP:0005180 IAO:0000115 Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium NOT_TRANSLATED -en nl HP:0005181 rdfs:label Premature coronary artery atherosclerosis Premature coronaire atherosclerose CANDIDATE -en nl HP:0005181 IAO:0000115 Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45 Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45 NOT_TRANSLATED -en nl HP:0005182 rdfs:label Bicuspid pulmonary valve Bicuspide pulmonale klep CANDIDATE -en nl HP:0005182 IAO:0000115 The presence of a bicuspid pulmonary valve The presence of a bicuspid pulmonary valve NOT_TRANSLATED -en nl HP:0005183 rdfs:label Pericardial lymphangiectasia Pericardiale lymfangiëctasieën CANDIDATE -en nl HP:0005183 IAO:0000115 An abnormal dilatation of lymph vessels in the pericardium An abnormal dilatation of lymph vessels in the pericardium NOT_TRANSLATED -en nl HP:0005184 rdfs:label Prolonged QTc interval Verlengd QTc-interval CANDIDATE -en nl HP:0005184 IAO:0000115 A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations NOT_TRANSLATED -en nl HP:0005185 rdfs:label Global systolic dysfunction Globale systolische dysfunctie CANDIDATE -en nl HP:0005185 IAO:0000115 A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly NOT_TRANSLATED -en nl HP:0005186 rdfs:label Synovial hypertrophy Synoviale hypertrofie CANDIDATE -en nl HP:0005187 rdfs:label Progressive joint destruction Progressieve gewrichtsdestructie CANDIDATE -en nl HP:0005190 rdfs:label Proximal finger joint hyperextensibility Proximale vinger gewricht hyperextensibiliteit CANDIDATE -en nl HP:0005191 rdfs:label Congenital knee dislocation Congenitale knie dislocatie CANDIDATE -en nl HP:0005193 rdfs:label Restricted large joint movement Beperkte beweging van groot gewricht CANDIDATE -en nl HP:0005194 rdfs:label Flattened metatarsal heads Afgevlakte metatarsale koppen CANDIDATE -en nl HP:0005194 IAO:0000115 Abnormally flat shape of the heads of the metatarsal bones Abnormally flat shape of the heads of the metatarsal bones NOT_TRANSLATED -en nl HP:0005195 rdfs:label Polyarticular arthropathy Polyarticulaire artropathie CANDIDATE -en nl HP:0005197 rdfs:label Generalized morning stiffness Gegeneraliseerde ochtendstijfheid CANDIDATE -en nl HP:0005197 IAO:0000115 A sensation of stiffness in the joints that occurs following waking up in the morning A sensation of stiffness in the joints that occurs following waking up in the morning NOT_TRANSLATED -en nl HP:0005198 rdfs:label Stiff interphalangeal joints Stijve interfalangeale gewrichten CANDIDATE -en nl HP:0005198 IAO:0000115 Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity NOT_TRANSLATED -en nl HP:0005199 rdfs:label Aplasia of the abdominal wall musculature Aplasie van de buikwand musculatuur CANDIDATE -en nl HP:0005199 IAO:0000115 Absence of the abdominal musculature Absence of the abdominal musculature NOT_TRANSLATED -en nl HP:0005200 rdfs:label Retroperitoneal fibrosis Retroperitoneale fibrose CANDIDATE -en nl HP:0005201 rdfs:label Anomalous splenoportal venous system Abnormaal splenoportaal veneus systeem CANDIDATE -en nl HP:0005202 rdfs:label Helicobacter pylori infection Helicobacter pylori infectie CANDIDATE -en nl HP:0005202 IAO:0000115 A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach NOT_TRANSLATED -en nl HP:0005203 rdfs:label Spontaneous esophageal perforation Spontane oesofageale perforatie CANDIDATE -en nl HP:0005203 IAO:0000115 The occurrence of the full-thickness tear (perforation) of the wall of the esophagus The occurrence of the full-thickness tear (perforation) of the wall of the esophagus NOT_TRANSLATED -en nl HP:0005206 rdfs:label Pancreatic pseudocyst Pancreatische pseudocyste CANDIDATE -en nl HP:0005206 IAO:0000115 Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis NOT_TRANSLATED -en nl HP:0005207 rdfs:label Gastric hypertrophy Maag hypertrofie CANDIDATE -en nl HP:0005207 IAO:0000115 Hypertrophy of the stomach Hypertrophy of the stomach NOT_TRANSLATED -en nl HP:0005208 rdfs:label Secretory diarrhea Secretoire diarree CANDIDATE -en nl HP:0005208 IAO:0000115 Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption NOT_TRANSLATED -en nl HP:0005209 rdfs:label Intrahepatic bile duct cysts Intrahepatische galgang cysten CANDIDATE -en nl HP:0005209 IAO:0000115 The presence of cyst of the intrahepatic bile duct The presence of cyst of the intrahepatic bile duct NOT_TRANSLATED -en nl HP:0005210 rdfs:label Hypoplastic colon Hypoplastisch colon CANDIDATE -en nl HP:0005210 IAO:0000115 Underdevelopment of the colon Underdevelopment of the colon NOT_TRANSLATED -en nl HP:0005211 rdfs:label Midgut malrotation Middendarm malrotatie CANDIDATE -en nl HP:0005212 rdfs:label Anal mucosal leukoplakia Anale mucosale leukoplakie CANDIDATE -en nl HP:0005212 IAO:0000115 Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation NOT_TRANSLATED -en nl HP:0005213 rdfs:label Pancreatic calcification Pancreatische calcificatie CANDIDATE -en nl HP:0005213 IAO:0000115 The presence of abnormal calcium deposition lesions in the pancreas The presence of abnormal calcium deposition lesions in the pancreas NOT_TRANSLATED -en nl HP:0005214 rdfs:label Intestinal obstruction Intestinale obstructie CANDIDATE -en nl HP:0005214 IAO:0000115 Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal NOT_TRANSLATED -en nl HP:0005215 rdfs:label Frequent Giardia lamblia infestation Frequente Giardia lamblia besmetting CANDIDATE -en nl HP:0005215 IAO:0000115 Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection NOT_TRANSLATED -en nl HP:0005216 rdfs:label Impaired mastication Problemen met kauwen CANDIDATE -en nl HP:0005216 IAO:0000115 An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing NOT_TRANSLATED -en nl HP:0005217 rdfs:label Duplication of internal organs Duplicatie van inwendige organen CANDIDATE -en nl HP:0005218 rdfs:label Anoperineal fistula Anoperineale fistel CANDIDATE -en nl HP:0005218 IAO:0000115 The presence of a fistula (abnormal tunnel) between the anal canal and the perineum The presence of a fistula (abnormal tunnel) between the anal canal and the perineum NOT_TRANSLATED -en nl HP:0005219 rdfs:label Absence of intrinsic factor Afwezigheid van intrinsic factor CANDIDATE -en nl HP:0005219 IAO:0000115 Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12 Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12 NOT_TRANSLATED -en nl HP:0005220 rdfs:label Multiple intestinal neurofibromatosis Multipele intestinale neurofibromatose CANDIDATE -en nl HP:0005222 rdfs:label Bowel diverticulosis Darm diverticulose CANDIDATE -en nl HP:0005222 IAO:0000115 The presence of multiple diverticula of the intestine The presence of multiple diverticula of the intestine NOT_TRANSLATED -en nl HP:0005223 rdfs:label Duplicated colon Gedupliceerd colon CANDIDATE -en nl HP:0005224 rdfs:label Rectal abscess Rectaal abces CANDIDATE -en nl HP:0005224 IAO:0000115 A collection of pus in the area of the rectum A collection of pus in the area of the rectum NOT_TRANSLATED -en nl HP:0005225 rdfs:label Intestinal edema Intestinaal oedeem CANDIDATE -en nl HP:0005225 IAO:0000115 Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds NOT_TRANSLATED -en nl HP:0005227 rdfs:label Adenomatous colonic polyposis Adenomateuze polyposis van colon CANDIDATE -en nl HP:0005227 IAO:0000115 Presence of multiple adenomatous polyps in the colon Presence of multiple adenomatous polyps in the colon NOT_TRANSLATED -en nl HP:0005229 rdfs:label Jejunoileal ulceration Jejuno-ileale ulceratie CANDIDATE -en nl HP:0005230 rdfs:label Biliary tract obstruction Obstructie van de galwegen CANDIDATE -en nl HP:0005230 IAO:0000115 Obstruction affecting the biliary tree Obstruction affecting the biliary tree NOT_TRANSLATED -en nl HP:0005231 rdfs:label Chronic gastritis Chronische gastritis CANDIDATE -en nl HP:0005231 IAO:0000115 A chronic form of gastritis A chronic form of gastritis NOT_TRANSLATED -en nl HP:0005232 rdfs:label Pancreatic dysplasia Pancreatische dysplasie CANDIDATE -en nl HP:0005232 IAO:0000115 The presence of developmental dysplasia of the pancreas The presence of developmental dysplasia of the pancreas NOT_TRANSLATED -en nl HP:0005233 rdfs:label Hypoplasia of the gallbladder Hypoplasie van de galblaas CANDIDATE -en nl HP:0005233 IAO:0000115 The presence of a hypoplastic gallbladder The presence of a hypoplastic gallbladder NOT_TRANSLATED -en nl HP:0005234 rdfs:label Neonatal intestinal obstruction Neonatale intestinale obstructie CANDIDATE -en nl HP:0005235 rdfs:label Jejunal atresia Jejunale atresie CANDIDATE -en nl HP:0005235 IAO:0000115 A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum NOT_TRANSLATED -en nl HP:0005236 rdfs:label Chronic calcifying pancreatitis Chronische calcifiërende pancreatitis CANDIDATE -en nl HP:0005236 IAO:0000115 A form of chronic pancreatitis that is characterized by calcification A form of chronic pancreatitis that is characterized by calcification NOT_TRANSLATED -en nl HP:0005237 rdfs:label Degenerative liver disease Degeneratieve leverziekten CANDIDATE -en nl HP:0005237 IAO:0000115 The presence of degenerative changes of the liver The presence of degenerative changes of the liver NOT_TRANSLATED -en nl HP:0005238 rdfs:label Discrete intestinal polyps Discrete intestinale poliepen CANDIDATE -en nl HP:0005240 rdfs:label Esophageal obstruction Oesofageale obstructie CANDIDATE -en nl HP:0005241 rdfs:label Total intestinal aganglionosis Totale intestinale aganglionose CANDIDATE -en nl HP:0005241 IAO:0000115 A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel NOT_TRANSLATED -en nl HP:0005242 rdfs:label Extrahepatic biliary duct atresia Extrahepatische galgang atresie CANDIDATE -en nl HP:0005242 IAO:0000115 Atresia in the extrahepatic bile duct Atresia in the extrahepatic bile duct NOT_TRANSLATED -en nl HP:0005243 rdfs:label Partial abdominal muscle agenesis Partiële abdominale spier agenesie CANDIDATE -en nl HP:0005243 IAO:0000115 Failure to form of portions of the abdominal musculature Failure to form of portions of the abdominal musculature NOT_TRANSLATED -en nl HP:0005244 rdfs:label Gastrointestinal infarctions Gastro-intestinale infarcten CANDIDATE -en nl HP:0005245 rdfs:label Intestinal hypoplasia Intestinale hypoplasie CANDIDATE -en nl HP:0005245 IAO:0000115 Developmental hypoplasia of the intestine Developmental hypoplasia of the intestine NOT_TRANSLATED -en nl HP:0005246 rdfs:label Giant hypertrophic gastritis Giant hypertrofische gastritis CANDIDATE -en nl HP:0005246 IAO:0000115 A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds NOT_TRANSLATED -en nl HP:0005247 rdfs:label Hypoplasia of the abdominal wall musculature Hypoplasie van de buikwand musculatuur CANDIDATE -en nl HP:0005247 IAO:0000115 Underdevelopment of the abdominal musculature Underdevelopment of the abdominal musculature NOT_TRANSLATED -en nl HP:0005248 rdfs:label Intrahepatic biliary atresia Intrahepatische biliaire atresie CANDIDATE -en nl HP:0005248 IAO:0000115 Atresia in the intrahepatic bile duct Atresia in the intrahepatic bile duct NOT_TRANSLATED -en nl HP:0005249 rdfs:label Functional intestinal obstruction Functionele intestinale obstructie CANDIDATE -en nl HP:0005250 rdfs:label High intestinal obstruction Hoge intestinale obstructie CANDIDATE -en nl HP:0005253 rdfs:label Increased anterioposterior diameter of thorax Verhoogde anterioposterieure diameter van thorax CANDIDATE -en nl HP:0005254 rdfs:label Unilateral chest hypoplasia Unilaterale borst hypoplasie CANDIDATE -en nl HP:0005255 rdfs:label Absence of pectoralis minor muscle Afwezigheid van pectoralis minor CANDIDATE -en nl HP:0005255 IAO:0000115 Aplasia (congenital absence) of the pectoralis minor Aplasia (congenital absence) of the pectoralis minor NOT_TRANSLATED -en nl HP:0005256 rdfs:label Unilateral absence of pectoralis major muscle Unilaterale afwezigheid van de musculus pectoralis major CANDIDATE -en nl HP:0005256 IAO:0000115 Aplasia (congenital absence) of the pectoralis minor on only one side of the chest Aplasia (congenital absence) of the pectoralis minor on only one side of the chest NOT_TRANSLATED -en nl HP:0005257 rdfs:label Thoracic hypoplasia Thoracale hypoplasie CANDIDATE -en nl HP:0005258 rdfs:label Pectoral muscle hypoplasia/aplasia Musculus pectoralis hypoplasie/aplasie CANDIDATE -en nl HP:0005259 rdfs:label Abnormal facility in opposing the shoulders Abnormal facility in opposing the shoulders NOT_TRANSLATED -en nl HP:0005259 IAO:0000115 Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest NOT_TRANSLATED -en nl HP:0005261 rdfs:label Joint hemorrhage Gewrichtsbloeding CANDIDATE -en nl HP:0005261 IAO:0000115 Hemorrhage occurring within a joint Hemorrhage occurring within a joint NOT_TRANSLATED -en nl HP:0005262 rdfs:label Abnormality of the synovia Afwijking van de synovia CANDIDATE -en nl HP:0005263 rdfs:label Gastritis Gastritis CANDIDATE -en nl HP:0005263 IAO:0000115 The presence of inflammation of the gastric mucous membrane The presence of inflammation of the gastric mucous membrane NOT_TRANSLATED -en nl HP:0005264 rdfs:label Abnormality of the gallbladder Afwijking van de galblaas CANDIDATE -en nl HP:0005264 IAO:0000115 An abnormality of the gallbladder An abnormality of the gallbladder NOT_TRANSLATED -en nl HP:0005265 rdfs:label Abnormal jejunum morphology Afwijking van het jejunum CANDIDATE -en nl HP:0005265 IAO:0000115 An abnormality of the jejunum, i.e., of the middle section of the small intestine An abnormality of the jejunum, i.e., of the middle section of the small intestine NOT_TRANSLATED -en nl HP:0005266 rdfs:label Intestinal polyp Intestinale poliep CANDIDATE -en nl HP:0005266 IAO:0000115 A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base NOT_TRANSLATED -en nl HP:0005267 rdfs:label Premature delivery because of cervical insufficiency or membrane fragility Vroeggeboorte vanwege cervicale insufficiëntie of membraan kwetsbaarheid CANDIDATE -en nl HP:0005268 rdfs:label Miscarriage Spontane abortus CANDIDATE -en nl HP:0005268 IAO:0000115 A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy NOT_TRANSLATED -en nl HP:0005272 rdfs:label Prominent nasolabial fold Prominente nasolabiale plooi CANDIDATE -en nl HP:0005272 IAO:0000115 Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure) Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure) NOT_TRANSLATED -en nl HP:0005273 rdfs:label Absent nasal septal cartilage Afwezig kraakbeen septum nasi CANDIDATE -en nl HP:0005273 IAO:0000115 Lack of the cartilage of the nasal septum Lack of the cartilage of the nasal septum NOT_TRANSLATED -en nl HP:0005274 rdfs:label Prominent nasal tip Prominente neuspunt CANDIDATE -en nl HP:0005275 rdfs:label Cartilaginous ossification of nose Kraakbeenachtige ossificatie van neus CANDIDATE -en nl HP:0005278 rdfs:label Hypoplastic nasal tip Hypoplastische neuspunt CANDIDATE -en nl HP:0005280 rdfs:label Depressed nasal bridge Platte neusbrug CANDIDATE -en nl HP:0005280 IAO:0000115 Posterior positioning of the nasal root in relation to the overall facial profile for age Posterior positioning of the nasal root in relation to the overall facial profile for age NOT_TRANSLATED -en nl HP:0005281 rdfs:label Hypoplastic nasal bridge Hypoplastische neusbrug CANDIDATE -en nl HP:0005285 rdfs:label Absent nasal bridge Afwezige neusbrug CANDIDATE -en nl HP:0005288 rdfs:label Abnormal nostril morphology Afwijking van de neusgaten CANDIDATE -en nl HP:0005288 IAO:0000115 Abnormality of the nostril Abnormality of the nostril NOT_TRANSLATED -en nl HP:0005289 rdfs:label Abnormality of the nasolabial region Afwijking van de nasolabiale regio CANDIDATE -en nl HP:0005290 rdfs:label Internal carotid artery hypoplasia Arteria carotis interna hypoplasie CANDIDATE -en nl HP:0005291 rdfs:label Inflammatory arteriopathy Inflammatoire arteriopathie CANDIDATE -en nl HP:0005292 rdfs:label Intimal thickening in the coronary arteries Verdikking van intima in coronair arteriën CANDIDATE -en nl HP:0005293 rdfs:label Venous insufficiency Veneuze insufficiëntie CANDIDATE -en nl HP:0005294 rdfs:label Arterial dissection Arteriële dissectie CANDIDATE -en nl HP:0005294 IAO:0000115 A separation (dissection) of the layers of an artery A separation (dissection) of the layers of an artery NOT_TRANSLATED -en nl HP:0005295 rdfs:label Pseudocoarctation of the aorta Pseudocoarctatie van de aorta CANDIDATE -en nl HP:0005295 IAO:0000115 Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum NOT_TRANSLATED -en nl HP:0005297 rdfs:label Premature occlusive vascular stenosis Premature occlusieve vasculaire stenose CANDIDATE -en nl HP:0005297 IAO:0000115 Peripheral arterial stenosis with onset before the age of 50 years Peripheral arterial stenosis with onset before the age of 50 years NOT_TRANSLATED -en nl HP:0005300 rdfs:label Nodular inflammatory vasculitis Nodulaire inflammatoire vasculitis CANDIDATE -en nl HP:0005301 rdfs:label Persistent left superior vena cava Persisterende linker vena cava superior CANDIDATE -en nl HP:0005301 IAO:0000115 A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress NOT_TRANSLATED -en nl HP:0005302 rdfs:label Carotid artery tortuosity Tortuositeit van de halsslagader CANDIDATE -en nl HP:0005302 IAO:0000115 Abnormal tortuous (i.e., twisted) form of the carotid arteries Abnormal tortuous (i.e., twisted) form of the carotid arteries NOT_TRANSLATED -en nl HP:0005303 rdfs:label Aortic arch calcification Aortaboog verkalking CANDIDATE -en nl HP:0005303 IAO:0000115 Calcification, that is, pathological deposition of calcium salts in the arch of aorta Calcification, that is, pathological deposition of calcium salts in the arch of aorta NOT_TRANSLATED -en nl HP:0005304 rdfs:label Hypoplastic pulmonary veins Hypoplastische pulmonale aderen CANDIDATE -en nl HP:0005305 rdfs:label Cerebral venous thrombosis Cerebrale veneuze trombose CANDIDATE -en nl HP:0005305 IAO:0000115 Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow NOT_TRANSLATED -en nl HP:0005306 rdfs:label Capillary hemangioma Capillaire hemangiomen CANDIDATE -en nl HP:0005306 IAO:0000115 The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces NOT_TRANSLATED -en nl HP:0005307 rdfs:label Postural hypotension with compensatory tachycardia Posturale hypotensie met compenserende tachycardie CANDIDATE -en nl HP:0005308 rdfs:label Pulmonary artery vasoconstriction Arteria pulmonalis vasoconstrictie CANDIDATE -en nl HP:0005310 rdfs:label Large vessel vasculitis Grote vaten vasculitis CANDIDATE -en nl HP:0005310 IAO:0000115 A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta NOT_TRANSLATED -en nl HP:0005311 rdfs:label Agenesis of pulmonary vessels Agenesie van pulmonale vaten CANDIDATE -en nl HP:0005311 IAO:0000115 A developmental defect characterized by the lack of formation of the pulmonary blood vessels A developmental defect characterized by the lack of formation of the pulmonary blood vessels NOT_TRANSLATED -en nl HP:0005312 rdfs:label Pulmonary aterial intimal fibrosis Fibrose van intima van arteria pulmonalis CANDIDATE -en nl HP:0005312 IAO:0000115 Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation NOT_TRANSLATED -en nl HP:0005313 rdfs:label Arterial fibromuscular dysplasia Arteriële fibromusculaire dysplasie CANDIDATE -en nl HP:0005313 IAO:0000115 An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer NOT_TRANSLATED -en nl HP:0005314 rdfs:label Anomalous branches of internal carotid artery Abnormale aftakkingen van arteria carotis interna CANDIDATE -en nl HP:0005316 rdfs:label Peripheral pulmonary vessel aplasia Perifere pulmonale vaat aplasie CANDIDATE -en nl HP:0005317 rdfs:label Increased pulmonary vascular resistance Verhoogde pulmonale vaatweerstand CANDIDATE -en nl HP:0005317 IAO:0000115 Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units NOT_TRANSLATED -en nl HP:0005318 rdfs:label Cerebral vasculitis Cerebrale vasculitis CANDIDATE -en nl HP:0005318 IAO:0000115 Inflammation of the blood vessels within the brain Inflammation of the blood vessels within the brain NOT_TRANSLATED -en nl HP:0005320 rdfs:label Lack of facial subcutaneous fat Tekort van faciaal subcutaan vet CANDIDATE -en nl HP:0005321 rdfs:label Mandibulofacial dysostosis Mandibulofaciale dysostose CANDIDATE -en nl HP:0005321 IAO:0000115 A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations NOT_TRANSLATED -en nl HP:0005322 rdfs:label Prominent nasal septum Prominent septum nasi CANDIDATE -en nl HP:0005323 rdfs:label Hemifacial hypertrophy Hemifaciale hypertrofie CANDIDATE -en nl HP:0005323 IAO:0000115 Unilateral overgrowth of facial tissues, including muscles, bones and skin Unilateral overgrowth of facial tissues, including muscles, bones and skin NOT_TRANSLATED -en nl HP:0005324 rdfs:label Disturbance of facial expression Verstoorde faciale expressie CANDIDATE -en nl HP:0005324 IAO:0000115 An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed NOT_TRANSLATED -en nl HP:0005325 rdfs:label Extension of hair growth on temples to lateral eyebrow Verlenging van haargroei op slapen tot laterale wenkbrauw CANDIDATE -en nl HP:0005325 IAO:0000115 A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows NOT_TRANSLATED -en nl HP:0005326 rdfs:label Hypoplastic philtrum Hypoplastisch filtrum CANDIDATE -en nl HP:0005326 IAO:0000115 Underdevelopment of the philtrum Underdevelopment of the philtrum NOT_TRANSLATED -en nl HP:0005327 rdfs:label Loss of facial expression Verlies van faciale expressie CANDIDATE -en nl HP:0005328 rdfs:label Progeroid facial appearance Progeroïd faciaal voorkomen CANDIDATE -en nl HP:0005328 IAO:0000115 A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance NOT_TRANSLATED -en nl HP:0005329 rdfs:label Fixed facial expression Gefixeerde faciale expressie CANDIDATE -en nl HP:0005332 rdfs:label Recurrent mandibular subluxations Terugkerende mandibulaire subluxaties CANDIDATE -en nl HP:0005332 IAO:0000115 Recurrent partial dislocations of the mandible Recurrent partial dislocations of the mandible NOT_TRANSLATED -en nl HP:0005335 rdfs:label Sleepy facial expression Slaperige faciale expressie CANDIDATE -en nl HP:0005336 rdfs:label Forehead hyperpigmentation Voorhoofd hyperpigmentatie CANDIDATE -en nl HP:0005338 rdfs:label Sparse lateral eyebrow Spaarzame laterale wenkbrauw CANDIDATE -en nl HP:0005338 IAO:0000115 Decreased density/number and/or decreased diameter of lateral eyebrow hairs Decreased density/number and/or decreased diameter of lateral eyebrow hairs NOT_TRANSLATED -en nl HP:0005339 rdfs:label Abnormality of complement system Afwijking van het complementsysteem CANDIDATE -en nl HP:0005339 IAO:0000115 An abnormality of the complement system An abnormality of the complement system NOT_TRANSLATED -en nl HP:0005340 rdfs:label Spastic/hyperactive bladder Spastische/hyperactieve blaas CANDIDATE -en nl HP:0005341 rdfs:label Autonomic bladder dysfunction Autonome blaas dysfunctie CANDIDATE -en nl HP:0005341 IAO:0000115 Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system NOT_TRANSLATED -en nl HP:0005343 rdfs:label Hypoplasia of the bladder Hypoplasie van de blaas CANDIDATE -en nl HP:0005343 IAO:0000115 Underdevelopment of the urinary bladder Underdevelopment of the urinary bladder NOT_TRANSLATED -en nl HP:0005344 rdfs:label Abnormal carotid artery morphology Afwijkende arteria carotis morfologie CANDIDATE -en nl HP:0005344 IAO:0000115 Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches NOT_TRANSLATED -en nl HP:0005345 rdfs:label Abnormal vena cava morphology Afwijkende vena cava morfologie CANDIDATE -en nl HP:0005345 IAO:0000115 An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava NOT_TRANSLATED -en nl HP:0005346 rdfs:label Abnormal facial expression Afwijkende faciale expressie CANDIDATE -en nl HP:0005347 rdfs:label Tracheal cartilaginous sleeve Cartilagineuze trachea CANDIDATE -en nl HP:0005347 IAO:0000115 Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes NOT_TRANSLATED -en nl HP:0005348 rdfs:label Inspiratory stridor Inspiratoire stridor CANDIDATE -en nl HP:0005348 IAO:0000115 Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities NOT_TRANSLATED -en nl HP:0005349 rdfs:label Hypoplasia of the epiglottis Hypoplasie van de epiglottis CANDIDATE -en nl HP:0005349 IAO:0000115 Hypoplasia of the epiglottis Hypoplasia of the epiglottis NOT_TRANSLATED -en nl HP:0005352 rdfs:label Severe T-cell immunodeficiency Ernstige T-cell immuundeficiëntie CANDIDATE -en nl HP:0005352 IAO:0000115 A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms NOT_TRANSLATED -en nl HP:0005353 rdfs:label Recurrent herpes Gevoeligheid voor herpesvirus CANDIDATE -en nl HP:0005353 IAO:0000115 Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus NOT_TRANSLATED -en nl HP:0005354 rdfs:label Lack of T cell function Gebrek aan T-cel functie CANDIDATE -en nl HP:0005354 IAO:0000115 Complete inability of T cells to perform their functions in cell-mediated immunity Complete inability of T cells to perform their functions in cell-mediated immunity NOT_TRANSLATED -en nl HP:0005356 rdfs:label Decreased serum complement factor I Verminderd serum complement factor I CANDIDATE -en nl HP:0005356 IAO:0000115 A reduced level of the complement component Factor I in circulation A reduced level of the complement component Factor I in circulation NOT_TRANSLATED -en nl HP:0005357 rdfs:label Defective B cell differentiation Defecte B-cel differentiatie CANDIDATE -en nl HP:0005357 IAO:0000115 Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity NOT_TRANSLATED -en nl HP:0005359 rdfs:label Aplasia of the thymus Aplasie van de thymus CANDIDATE -en nl HP:0005359 IAO:0000115 Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination NOT_TRANSLATED -en nl HP:0005360 rdfs:label Susceptibility to chickenpox Gevoeligheid voor waterpokken CANDIDATE -en nl HP:0005360 IAO:0000115 Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox NOT_TRANSLATED -en nl HP:0005363 rdfs:label Humoral immunodeficiency Humorale immuundeficiëntie CANDIDATE -en nl HP:0005363 IAO:0000115 A general term referring to a defect in immunity resulting from impaired antibody production A general term referring to a defect in immunity resulting from impaired antibody production NOT_TRANSLATED -en nl HP:0005365 rdfs:label Severe B lymphocytopenia Ernstige B lymfocytopenie CANDIDATE -en nl HP:0005365 IAO:0000115 A severe form of B lymphocytopenia in which the count of B cells is very low or absent A severe form of B lymphocytopenia in which the count of B cells is very low or absent NOT_TRANSLATED -en nl HP:0005366 rdfs:label Recurrent streptococcus pneumoniae infections Recidverende streptococcus pneumoniae infecties CANDIDATE -en nl HP:0005366 IAO:0000115 Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae NOT_TRANSLATED -en nl HP:0005368 rdfs:label Abnormality of humoral immunity Afwijking van de humorale immuniteit CANDIDATE -en nl HP:0005368 IAO:0000115 An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system NOT_TRANSLATED -en nl HP:0005369 rdfs:label Decreased serum complement factor H Verminderd serum complement factor H CANDIDATE -en nl HP:0005369 IAO:0000115 A reduced level of the complement component Factor H in circulation A reduced level of the complement component Factor H in circulation NOT_TRANSLATED -en nl HP:0005372 rdfs:label Abnormality of B cell physiology Afwijking van B cel fysiologie CANDIDATE -en nl HP:0005372 IAO:0000115 An abnormality of the physiological functioning of B cells An abnormality of the physiological functioning of B cells NOT_TRANSLATED -en nl HP:0005374 rdfs:label Cellular immunodeficiency Cellulaire immuundeficiëntie CANDIDATE -en nl HP:0005374 IAO:0000115 An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity NOT_TRANSLATED -en nl HP:0005376 rdfs:label Recurrent Haemophilus influenzae infections Recidverende Haemophilus influenzae infecties CANDIDATE -en nl HP:0005376 IAO:0000115 Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae NOT_TRANSLATED -en nl HP:0005381 rdfs:label Recurrent meningococcal disease Recidiverende meningokokkenziekte CANDIDATE -en nl HP:0005381 IAO:0000115 Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus NOT_TRANSLATED -en nl HP:0005384 rdfs:label Defective B cell activation Defecte B-cel-activatie CANDIDATE -en nl HP:0005384 IAO:0000115 A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of NOT_TRANSLATED -en nl HP:0005386 rdfs:label Recurrent protozoan infections Recidiverende protozoa infecties CANDIDATE -en nl HP:0005386 IAO:0000115 Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection NOT_TRANSLATED -en nl HP:0005387 rdfs:label Combined immunodeficiency Gecombineerde immunodeficiëntie CANDIDATE -en nl HP:0005387 IAO:0000115 A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications NOT_TRANSLATED -en nl HP:0005389 rdfs:label Depletion of components of the alternative complement pathway Uitputting van de componenten van de alternatieve complement pathway CANDIDATE -en nl HP:0005389 IAO:0000115 An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products NOT_TRANSLATED -en nl HP:0005390 rdfs:label Recurrent opportunistic infections Recidiverende opportunistische infecties CANDIDATE -en nl HP:0005390 IAO:0000115 Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system NOT_TRANSLATED -en nl HP:0005396 rdfs:label Susceptibility to coronavirus 229e Gevoeligheid voor coronavirus 229e CANDIDATE -en nl HP:0005396 IAO:0000115 Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e NOT_TRANSLATED -en nl HP:0005400 rdfs:label Reduction of neutrophil motility Reductie van neutrofiel motiliteit CANDIDATE -en nl HP:0005400 IAO:0000115 An abnormal reduction of the cell motility of neutrophils An abnormal reduction of the cell motility of neutrophils NOT_TRANSLATED -en nl HP:0005401 rdfs:label Recurrent candida infections Recidiverende candida infecties CANDIDATE -en nl HP:0005401 IAO:0000115 An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections NOT_TRANSLATED -en nl HP:0005403 rdfs:label T lymphocytopenia Afname van T cellen CANDIDATE -en nl HP:0005403 IAO:0000115 An abnormally low count of T cells An abnormally low count of T cells NOT_TRANSLATED -en nl HP:0005404 rdfs:label Increased B cell count Toename van B cellen CANDIDATE -en nl HP:0005404 IAO:0000115 An abnormal increase from the normal count of B cells An abnormal increase from the normal count of B cells NOT_TRANSLATED -en nl HP:0005406 rdfs:label Recurrent bacterial skin infections Recidiverende bacteriële huidinfecties CANDIDATE -en nl HP:0005406 IAO:0000115 Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis NOT_TRANSLATED -en nl HP:0005407 rdfs:label Decreased proportion of CD4-positive helper T cells Afgenomen aantal van CD4-positieve T-cellen CANDIDATE -en nl HP:0005407 IAO:0000115 A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count NOT_TRANSLATED -en nl HP:0005411 rdfs:label Chronic intestinal candidiasis Chronische intestinale candidiasis CANDIDATE -en nl HP:0005411 IAO:0000115 Persistent overgrowth of Candida albicans in the gastrointestinal tract Persistent overgrowth of Candida albicans in the gastrointestinal tract NOT_TRANSLATED -en nl HP:0005413 rdfs:label Increased alpha-globulin Verhoogd alfa-globuline CANDIDATE -en nl HP:0005413 IAO:0000115 An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant NOT_TRANSLATED -en nl HP:0005415 rdfs:label Decreased proportion of CD8-positive T cells Afgenomen aantal van CD8-positieve T-cellen CANDIDATE -en nl HP:0005415 IAO:0000115 A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells NOT_TRANSLATED -en nl HP:0005416 rdfs:label Decreased serum complement factor B Verminderd serum complement factor B CANDIDATE -en nl HP:0005416 IAO:0000115 A reduced level of the complement component factor B in circulation A reduced level of the complement component factor B in circulation NOT_TRANSLATED -en nl HP:0005419 rdfs:label Decreased T cell activation Verminderde T-cel activatie CANDIDATE -en nl HP:0005419 IAO:0000115 Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific NOT_TRANSLATED -en nl HP:0005420 rdfs:label Recurrent gram-negative bacterial infections Recidiverende gram-negatieve bacteriële infecties CANDIDATE -en nl HP:0005420 IAO:0000115 Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents NOT_TRANSLATED -en nl HP:0005421 rdfs:label Decreased serum complement C3 Verminderd serum complement C3 CANDIDATE -en nl HP:0005421 IAO:0000115 A reduced level of the complement component C3 in circulation A reduced level of the complement component C3 in circulation NOT_TRANSLATED -en nl HP:0005422 rdfs:label Absence of CD8-positive T cells Afwezigheid van CD8-positieve T-cellen CANDIDATE -en nl HP:0005422 IAO:0000115 Lack of detectible CD8-positive T cells Lack of detectible CD8-positive T cells NOT_TRANSLATED -en nl HP:0005423 rdfs:label Dysfunctional alternative complement pathway Dysfunctionele alternatieve complement pathway CANDIDATE -en nl HP:0005423 IAO:0000115 An abnormality of the functioning of any aspect of the alternative complement pathway An abnormality of the functioning of any aspect of the alternative complement pathway NOT_TRANSLATED -en nl HP:0005424 rdfs:label Absent specific antibody response Afwezige specifieke antistofrespons afwezig CANDIDATE -en nl HP:0005424 IAO:0000115 Absence of specific immunoglobulins directed against a specific antigen or microorganism Absence of specific immunoglobulins directed against a specific antigen or microorganism NOT_TRANSLATED -en nl HP:0005425 rdfs:label Recurrent sinopulmonary infections Recidiverende sinopulmonale infecties CANDIDATE -en nl HP:0005425 IAO:0000115 An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections NOT_TRANSLATED -en nl HP:0005428 rdfs:label Severe recurrent varicella Ernstige recidiverende varicella CANDIDATE -en nl HP:0005429 rdfs:label Recurrent systemic pyogenic infections Recidiverende systemische pyogenische infecties CANDIDATE -en nl HP:0005429 IAO:0000115 Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections NOT_TRANSLATED -en nl HP:0005430 rdfs:label Recurrent Neisserial infections Recidiverende Neisseria infecties CANDIDATE -en nl HP:0005430 IAO:0000115 Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis) Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis) NOT_TRANSLATED -en nl HP:0005432 rdfs:label Transient hypogammaglobulinemia of infancy Voorbijgaande hypogammaglobulinemia van jeugd CANDIDATE -en nl HP:0005432 IAO:0000115 At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia NOT_TRANSLATED -en nl HP:0005435 rdfs:label Impaired T cell function Verminderde T cel functie CANDIDATE -en nl HP:0005435 IAO:0000115 Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity NOT_TRANSLATED -en nl HP:0005437 rdfs:label Recurrent infections in infancy and early childhood Recidiverende infecties in jeugd en vroege kinderjaren CANDIDATE -en nl HP:0005437 IAO:0000115 Recurrent infections at an early age with improvement in later childhood Recurrent infections at an early age with improvement in later childhood NOT_TRANSLATED -en nl HP:0005439 rdfs:label Maxillozygomatic hypoplasia Maxillozygomatische hypoplasie CANDIDATE -en nl HP:0005439 IAO:0000115 Hypoplasia of the maxillozygomatic complex Hypoplasia of the maxillozygomatic complex NOT_TRANSLATED -en nl HP:0005441 rdfs:label Sclerotic cranial sutures Sclerotische craniale suturen CANDIDATE -en nl HP:0005441 IAO:0000115 An increased density in the cranial sutures following obliteration An increased density in the cranial sutures following obliteration NOT_TRANSLATED -en nl HP:0005442 rdfs:label Widely patent coronal suture Wijde open coronale sutuur CANDIDATE -en nl HP:0005442 IAO:0000115 The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed NOT_TRANSLATED -en nl HP:0005445 rdfs:label Enlarged posterior fossa Verwijde posterieure fossa CANDIDATE -en nl HP:0005445 IAO:0000115 Abnormal increased size of the posterior cranial fossa Abnormal increased size of the posterior cranial fossa NOT_TRANSLATED -en nl HP:0005446 rdfs:label Obtuse angle of mandible Obtuse angle of mandible NOT_TRANSLATED -en nl HP:0005446 IAO:0000115 Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal NOT_TRANSLATED -en nl HP:0005449 rdfs:label Bridged sella turcica Gebrugde sella turcica CANDIDATE -en nl HP:0005450 rdfs:label Calvarial osteosclerosis Calvariale osteosclerose CANDIDATE -en nl HP:0005450 IAO:0000115 An increase in bone density affecting the calvaria (roof of the skull) An increase in bone density affecting the calvaria (roof of the skull) NOT_TRANSLATED -en nl HP:0005451 rdfs:label Decreased cranial base ossification Verminderde schedelbasis ossificatie CANDIDATE -en nl HP:0005453 rdfs:label Absent/hypoplastic paranasal sinuses Afwezige/hypoplastische paranasale sinussen CANDIDATE -en nl HP:0005453 IAO:0000115 Aplasia or hypoplasia of the paranasal sinuses Aplasia or hypoplasia of the paranasal sinuses NOT_TRANSLATED -en nl HP:0005456 rdfs:label Absent ethmoidal sinuses Afwezige ethmoïdale sinussen CANDIDATE -en nl HP:0005456 IAO:0000115 Lack (aplasia) of the ethmoidal sinus Lack (aplasia) of the ethmoidal sinus NOT_TRANSLATED -en nl HP:0005458 rdfs:label Premature closure of fontanelles Premature sluiting van fontanellen CANDIDATE -en nl HP:0005458 IAO:0000115 Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point NOT_TRANSLATED -en nl HP:0005461 rdfs:label Craniofacial disproportion Craniofaciale disproportie CANDIDATE -en nl HP:0005462 rdfs:label Calcification of falx cerebri Calcificatie van falx cerebri CANDIDATE -en nl HP:0005462 IAO:0000115 The presence of calcium deposition in the falx cerebri The presence of calcium deposition in the falx cerebri NOT_TRANSLATED -en nl HP:0005463 rdfs:label Elongated sella turcica Verlengde sella turcica CANDIDATE -en nl HP:0005464 rdfs:label Craniofacial osteosclerosis Craniofaciale osteosclerose CANDIDATE -en nl HP:0005464 IAO:0000115 Abnormally increased density of craniofacial bone tissue Abnormally increased density of craniofacial bone tissue NOT_TRANSLATED -en nl HP:0005465 rdfs:label Facial hyperostosis Faciale hyperostose CANDIDATE -en nl HP:0005465 IAO:0000115 Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton NOT_TRANSLATED -en nl HP:0005466 rdfs:label Hypoplasia of the frontal bone Hypoplasie van het os frontalis CANDIDATE -en nl HP:0005466 IAO:0000115 Underdevelopment of the frontal bone Underdevelopment of the frontal bone NOT_TRANSLATED -en nl HP:0005469 rdfs:label Flat occiput Vlak achterhoofd CANDIDATE -en nl HP:0005469 IAO:0000115 Reduced convexity of the occiput (posterior part of skull) Reduced convexity of the occiput (posterior part of skull) NOT_TRANSLATED -en nl HP:0005472 rdfs:label Orbital craniosynostosis Orbitale craniosynostose CANDIDATE -en nl HP:0005473 rdfs:label Fusion of middle ear ossicles Fusie van middenoorbeentjes CANDIDATE -en nl HP:0005473 IAO:0000115 Bony fusion of malleus, incus, and stapes Bony fusion of malleus, incus, and stapes NOT_TRANSLATED -en nl HP:0005474 rdfs:label Decreased calvarial ossification Verminderde calvariale ossificatie CANDIDATE -en nl HP:0005474 IAO:0000115 Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone) Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone) NOT_TRANSLATED -en nl HP:0005476 rdfs:label Widely patent sagittal suture Wijde open sagitale sutuur CANDIDATE -en nl HP:0005476 IAO:0000115 The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed NOT_TRANSLATED -en nl HP:0005477 rdfs:label Progressive sclerosis of skull base Progressieve sclerose van schedelbasis CANDIDATE -en nl HP:0005477 IAO:0000115 Progressively increasing bone density of the skull base without significant changes in bony contour Progressively increasing bone density of the skull base without significant changes in bony contour NOT_TRANSLATED -en nl HP:0005478 rdfs:label Prominent frontal sinuses Prominente frontale sinussen CANDIDATE -en nl HP:0005479 rdfs:label Decreased circulating IgE IgE-deficiëntie CANDIDATE -en nl HP:0005479 IAO:0000115 An abnormally decreased level of immunoglobulin E (IgE) in blood An abnormally decreased level of immunoglobulin E (IgE) in blood NOT_TRANSLATED -en nl HP:0005482 rdfs:label Abnormality of the alternative complement pathway Afwijking van de alternatieve complement pathway CANDIDATE -en nl HP:0005482 IAO:0000115 A deviation in any aspect of the alternative complement pathway A deviation in any aspect of the alternative complement pathway NOT_TRANSLATED -en nl HP:0005483 rdfs:label Abnormal epiglottis morphology Afwijking van de epiglottis CANDIDATE -en nl HP:0005483 IAO:0000115 An abnormality of the epiglottis An abnormality of the epiglottis NOT_TRANSLATED -en nl HP:0005484 rdfs:label Secondary microcephaly Postnatale microcefalie CANDIDATE -en nl HP:0005484 IAO:0000115 Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth Microcefalie (HP:0000252) met een startleeftijd in de postnatale periode, houdt in dat de hoofdomtrek in de normale range valt bij geboorte, maar later in de ontwikkeling achterblijft bij de normale waardes CANDIDATE -en nl HP:0005486 rdfs:label Small fontanelle Kleine fontanel CANDIDATE -en nl HP:0005486 IAO:0000115 A fontanelle that is small for age A fontanelle that is small for age NOT_TRANSLATED -en nl HP:0005487 rdfs:label Prominent metopic ridge Prominente metopische richel CANDIDATE -en nl HP:0005487 IAO:0000115 Vertical bony ridge positioned in the midline of the forehead Vertical bony ridge positioned in the midline of the forehead NOT_TRANSLATED -en nl HP:0005490 rdfs:label Postnatal macrocephaly Postnatale macrocefalie CANDIDATE -en nl HP:0005490 IAO:0000115 The postnatal development of an abnormally large skull (macrocephaly) The postnatal development of an abnormally large skull (macrocephaly) NOT_TRANSLATED -en nl HP:0005494 rdfs:label Premature posterior fontanelle closure Premature posterieure fontanel sluiting CANDIDATE -en nl HP:0005495 rdfs:label Metopic suture patent to nasal root Metopic suture patent to nasal root NOT_TRANSLATED -en nl HP:0005495 IAO:0000115 The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root NOT_TRANSLATED -en nl HP:0005498 rdfs:label Midline skin dimples over anterior/posterior fontanelles Midline skin dimples over anterior/posterior fontanelles NOT_TRANSLATED -en nl HP:0005502 rdfs:label Increased red cell osmotic fragility Verhoogde rode cel osmotische fragiliteit CANDIDATE -en nl HP:0005505 rdfs:label Refractory anemia Refractoire anemie CANDIDATE -en nl HP:0005506 rdfs:label Chronic myelogenous leukemia Chronische myeloïde leukemie CANDIDATE -en nl HP:0005506 IAO:0000115 A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate NOT_TRANSLATED -en nl HP:0005507 rdfs:label Hemoglobin Barts Hb Barts CANDIDATE -en nl HP:0005507 IAO:0000115 Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues NOT_TRANSLATED -en nl HP:0005508 rdfs:label Monoclonal immunoglobulin M proteinemia Monoclonale immunoglobuline M proteinemie CANDIDATE -en nl HP:0005508 IAO:0000115 Presence of a monoclonal immunoglobulin M protein in the serum Presence of a monoclonal immunoglobulin M protein in the serum NOT_TRANSLATED -en nl HP:0005510 rdfs:label Transient erythroblastopenia Tijdelijke erytroblastopenie CANDIDATE -en nl HP:0005510 IAO:0000115 A transient reduction in the number of erythroblasts in the circulation A transient reduction in the number of erythroblasts in the circulation NOT_TRANSLATED -en nl HP:0005511 rdfs:label Heinz body anemia Heinz-lichaampjes anemie CANDIDATE -en nl HP:0005511 IAO:0000115 Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells NOT_TRANSLATED -en nl HP:0005512 rdfs:label Impaired neutrophil killing of staphylococci Verminderde doding van stafylokokken door neutrofielen CANDIDATE -en nl HP:0005512 IAO:0000115 A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph NOT_TRANSLATED -en nl HP:0005513 rdfs:label Increased megakaryocyte count Verhoogd megakaryocyt aantal CANDIDATE -en nl HP:0005513 IAO:0000115 Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow NOT_TRANSLATED -en nl HP:0005517 rdfs:label T-cell lymphoma/leukemia T-cel lymfoom/leukemie CANDIDATE -en nl HP:0005517 IAO:0000115 A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas NOT_TRANSLATED -en nl HP:0005518 rdfs:label Increased mean corpuscular volume Toegenomen MPV CANDIDATE -en nl HP:0005518 IAO:0000115 Larger than normal size of erythrocytes Larger than normal size of erythrocytes NOT_TRANSLATED -en nl HP:0005520 rdfs:label Chronic disseminated intravascular coagulation Chronische diffuse intravasale stolling CANDIDATE -en nl HP:0005520 IAO:0000115 A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced NOT_TRANSLATED -en nl HP:0005521 rdfs:label Disseminated intravascular coagulation Diffuse intravasale stolling CANDIDATE -en nl HP:0005521 IAO:0000115 Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels NOT_TRANSLATED -en nl HP:0005522 rdfs:label Pyridoxine-responsive sideroblastic anemia Pyrixodine-responsieve sideroblastaire anemie CANDIDATE -en nl HP:0005522 IAO:0000115 A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment NOT_TRANSLATED -en nl HP:0005523 rdfs:label Lymphoproliferative disorder Lymfoproliferatieve aandoening CANDIDATE -en nl HP:0005524 rdfs:label Macrocytic hemolytic disease Macrocytaire hemolytische aandoening CANDIDATE -en nl HP:0005525 rdfs:label Spontaneous hemolytic crises Spontane hemolytische crises CANDIDATE -en nl HP:0005526 rdfs:label Lymphoid leukemia Lymfoïde leukemie CANDIDATE -en nl HP:0005526 IAO:0000115 A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias NOT_TRANSLATED -en nl HP:0005527 rdfs:label Reduced kininogen activity Verlaagde kininogeen activiteit CANDIDATE -en nl HP:0005527 IAO:0000115 Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade NOT_TRANSLATED -en nl HP:0005528 rdfs:label Bone marrow hypocellularity Beenmerg hypocellulariteit CANDIDATE -en nl HP:0005528 IAO:0000115 A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat NOT_TRANSLATED -en nl HP:0005531 rdfs:label Biphenotypic acute leukemia Bifenotypische acute leukemie CANDIDATE -en nl HP:0005531 IAO:0000115 A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias NOT_TRANSLATED -en nl HP:0005532 rdfs:label Macrocytic dyserythropoietic anemia Macrocytaire dyserythropoietische anemie CANDIDATE -en nl HP:0005534 rdfs:label Transient myeloproliferative syndrome Voorbijgaand myeloproliferatief syndroom CANDIDATE -en nl HP:0005534 IAO:0000115 A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts NOT_TRANSLATED -en nl HP:0005535 rdfs:label Exercise-induced hemolysis Inspanning-geïnduceerde hemolyse CANDIDATE -en nl HP:0005535 IAO:0000115 A form of hemolytic anemia that can be triggered by exertion A form of hemolytic anemia that can be triggered by exertion NOT_TRANSLATED -en nl HP:0005537 rdfs:label Decreased mean platelet volume Verminderd MPV CANDIDATE -en nl HP:0005537 IAO:0000115 Average platelet volume below the lower limit of the normal reference interval Average platelet volume below the lower limit of the normal reference interval NOT_TRANSLATED -en nl HP:0005539 rdfs:label T cell chronic lymphocytic lymphoma/leukemia T-cel chronische lymfocytaire lymfoom/leukemie CANDIDATE -en nl HP:0005539 IAO:0000115 A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent NOT_TRANSLATED -en nl HP:0005540 rdfs:label Red blood cell keratocytosis Rode bloedcellen keratocytose CANDIDATE -en nl HP:0005540 IAO:0000115 A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns NOT_TRANSLATED -en nl HP:0005541 rdfs:label Congenital agranulocytosis Congenitale agranulocytose CANDIDATE -en nl HP:0005541 IAO:0000115 Congenital onset of a marked decrease in the number of granulocytes Congenital onset of a marked decrease in the number of granulocytes NOT_TRANSLATED -en nl HP:0005542 rdfs:label Prolonged whole-blood clotting time Verlengde gehele-bloed stollingstijd CANDIDATE -en nl HP:0005542 IAO:0000115 An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot NOT_TRANSLATED -en nl HP:0005543 rdfs:label Reduced protein C activity Verminderde proteïne C activiteit CANDIDATE -en nl HP:0005543 IAO:0000115 An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va NOT_TRANSLATED -en nl HP:0005546 rdfs:label Increased red cell osmotic resistance Verhoogde rode cel osmotische resistentie CANDIDATE -en nl HP:0005547 rdfs:label Myeloproliferative disorder Myeloproliferatieve aandoening CANDIDATE -en nl HP:0005547 IAO:0000115 Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential NOT_TRANSLATED -en nl HP:0005548 rdfs:label Megakaryocytopenia Megakaryocytopenie CANDIDATE -en nl HP:0005548 IAO:0000115 A reduced count of megakaryocytes A reduced count of megakaryocytes NOT_TRANSLATED -en nl HP:0005550 rdfs:label Chronic lymphatic leukemia Chronische lymfatische leukemie CANDIDATE -en nl HP:0005550 IAO:0000115 A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias NOT_TRANSLATED -en nl HP:0005556 rdfs:label Abnormality of the metopic suture Afwijking van de metopische sutuur CANDIDATE -en nl HP:0005556 IAO:0000115 "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a ""metopic suture""" "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a ""metopic suture""" NOT_TRANSLATED -en nl HP:0005557 rdfs:label Abnormal zygomatic arch morphology Afwijking van het os zygomaticum CANDIDATE -en nl HP:0005557 IAO:0000115 An abnormality of the zygomatic arch, also known as the cheek bone An abnormality of the zygomatic arch, also known as the cheek bone NOT_TRANSLATED -en nl HP:0005558 rdfs:label Chronic leukemia Chronische leukemie CANDIDATE -en nl HP:0005558 IAO:0000115 A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia NOT_TRANSLATED -en nl HP:0005559 rdfs:label Abnormality of the kinin-kallikrein system Afwijking van het kallikrein-kinine-systeem CANDIDATE -en nl HP:0005560 rdfs:label Imbalanced hemoglobin synthesis Onevenwichtige hemoglobine synthese CANDIDATE -en nl HP:0005560 IAO:0000115 Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia NOT_TRANSLATED -en nl HP:0005561 rdfs:label Abnormality of bone marrow cell morphology Afwijking van de beenmerg cel morfologie CANDIDATE -en nl HP:0005561 IAO:0000115 An anomaly of the form or number of cells in the bone marrow An anomaly of the form or number of cells in the bone marrow NOT_TRANSLATED -en nl HP:0005562 rdfs:label Multiple renal cysts Multipele niercysten CANDIDATE -en nl HP:0005562 IAO:0000115 The presence of many cysts in the kidney The presence of many cysts in the kidney NOT_TRANSLATED -en nl HP:0005563 rdfs:label Decreased numbers of nephrons Verminderd aantal nefronen CANDIDATE -en nl HP:0005563 IAO:0000115 A reduction in the count of nephrons per kidney A reduction in the count of nephrons per kidney NOT_TRANSLATED -en nl HP:0005564 rdfs:label Absence of renal corticomedullary differentiation Afwezigheid van renale corticomedullaire differentiatie CANDIDATE -en nl HP:0005564 IAO:0000115 A lack of differentiation between renal cortex and medulla on diagnostic imaging A lack of differentiation between renal cortex and medulla on diagnostic imaging NOT_TRANSLATED -en nl HP:0005565 rdfs:label Reduced renal corticomedullary differentiation Verminderde renale corticomedullaire differentiatie CANDIDATE -en nl HP:0005565 IAO:0000115 Reduced differentiation between renal cortex and medulla on diagnostic imaging Reduced differentiation between renal cortex and medulla on diagnostic imaging NOT_TRANSLATED -en nl HP:0005567 rdfs:label Renal magnesium wasting Renaal magnesiumverlies CANDIDATE -en nl HP:0005567 IAO:0000115 High urine magnesium in the presence of hypomagnesemia High urine magnesium in the presence of hypomagnesemia NOT_TRANSLATED -en nl HP:0005571 rdfs:label Increased renal tubular phosphate reabsorption Verhoogde renale tubulaire fosfaat reabsorptie CANDIDATE -en nl HP:0005572 rdfs:label Decreased renal tubular phosphate excretion Verminderde renale tubulaire fosfaat excretie CANDIDATE -en nl HP:0005574 rdfs:label Non-acidotic proximal tubulopathy Non-acidotische proximale tubulopathie CANDIDATE -en nl HP:0005574 IAO:0000115 A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss NOT_TRANSLATED -en nl HP:0005575 rdfs:label Hemolytic-uremic syndrome Hemolytisch-uremisch syndroom CANDIDATE -en nl HP:0005575 IAO:0000115 A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease NOT_TRANSLATED -en nl HP:0005576 rdfs:label Tubulointerstitial fibrosis Tubulointerstitiële fibrose CANDIDATE -en nl HP:0005576 IAO:0000115 A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy NOT_TRANSLATED -en nl HP:0005579 rdfs:label Impaired renal ltubular reabsorption of chloride Verminderde reabsorptie van chloride CANDIDATE -en nl HP:0005579 IAO:0000115 Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine NOT_TRANSLATED -en nl HP:0005580 rdfs:label Duplication of renal pelvis Duplicatie van nierbekken CANDIDATE -en nl HP:0005580 IAO:0000115 A duplication of the renal pelvis A duplication of the renal pelvis NOT_TRANSLATED -en nl HP:0005583 rdfs:label Tubular basement membrane disintegration Tubulaire membraan desintegratie CANDIDATE -en nl HP:0005583 IAO:0000115 DIsruption and breaking up of the basement membrane of the tubules of the kidney DIsruption and breaking up of the basement membrane of the tubules of the kidney NOT_TRANSLATED -en nl HP:0005584 rdfs:label Renal cell carcinoma Niercelkanker CANDIDATE -en nl HP:0005584 IAO:0000115 A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule NOT_TRANSLATED -en nl HP:0005585 rdfs:label Spotty hyperpigmentation Vlekkerige hyperpigmentatie CANDIDATE -en nl HP:0005586 rdfs:label Hyperpigmentation in sun-exposed areas Hyperpigmentatie op aan zon blootgestelde gebieden CANDIDATE -en nl HP:0005587 rdfs:label Profuse pigmented skin lesions Overvloedig gepigmenteerde huid laesies CANDIDATE -en nl HP:0005588 rdfs:label Patchy palmoplantar hyperkeratosis Onregelmatige palmoplantaire keratodermie CANDIDATE -en nl HP:0005588 IAO:0000115 A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected NOT_TRANSLATED -en nl HP:0005590 rdfs:label Spotty hypopigmentation Vlekkerige hypopigmentatie CANDIDATE -en nl HP:0005592 rdfs:label Giant melanosomes in melanocytes Gigantische melanosomen in melanocyten CANDIDATE -en nl HP:0005592 IAO:0000115 The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes NOT_TRANSLATED -en nl HP:0005593 rdfs:label Macular hypopigmented whorls, streaks, and patches Macula gehypopigmenteerde slierten, strepen, en patches CANDIDATE -en nl HP:0005595 rdfs:label Generalized hyperkeratosis Gegeneraliseerde hyperkeratose CANDIDATE -en nl HP:0005597 rdfs:label Congenital alopecia totalis Congenitale alopecia totalis CANDIDATE -en nl HP:0005597 IAO:0000115 Loss of all scalp hair with congenital onset Loss of all scalp hair with congenital onset NOT_TRANSLATED -en nl HP:0005598 rdfs:label Facial telangiectasia in butterfly midface distribution Facial telangiectasia in butterfly midface distribution NOT_TRANSLATED -en nl HP:0005598 IAO:0000115 Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution NOT_TRANSLATED -en nl HP:0005599 rdfs:label Hypopigmentation of hair Hypopigmentatie van haar CANDIDATE -en nl HP:0005600 rdfs:label Congenital giant melanocytic nevus Congenitale reus melanocytaire naevus CANDIDATE -en nl HP:0005600 IAO:0000115 The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child NOT_TRANSLATED -en nl HP:0005602 rdfs:label Progressive vitiligo Progressieve vitiligo CANDIDATE -en nl HP:0005603 rdfs:label Numerous congenital melanocytic nevi Tal van congenitale melanocytische naevi CANDIDATE -en nl HP:0005605 rdfs:label Large cafe-au-lait macules with irregular margins Grote café-au-lait maculae met irregulaire marges CANDIDATE -en nl HP:0005605 IAO:0000115 Large hypermelanotic macules with jagged borders Large hypermelanotic macules with jagged borders NOT_TRANSLATED -en nl HP:0005606 rdfs:label Hyperpigmented nevi and streak Gehyperpigmenteerde naevi en strepen CANDIDATE -en nl HP:0005607 rdfs:label Abnormal tracheobronchial morphology Abnormal tracheobronchial morphology NOT_TRANSLATED -en nl HP:0005608 rdfs:label Bilobate gallbladder Bilobate gallbladder NOT_TRANSLATED -en nl HP:0005608 IAO:0000115 The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium NOT_TRANSLATED -en nl HP:0005609 rdfs:label Gallbladder dysfunction Galblaas dysfunctie CANDIDATE -en nl HP:0005612 rdfs:label Arthrogryposis-like hand anomaly Arthrogryposis-achtige hand afwijking CANDIDATE -en nl HP:0005613 rdfs:label Aplasia/hypoplasia of the femur Aplasia/hypoplasie van de femur CANDIDATE -en nl HP:0005613 IAO:0000115 Absence or underdevelopment of the femur Absence or underdevelopment of the femur NOT_TRANSLATED -en nl HP:0005616 rdfs:label Accelerated skeletal maturation Versnelde skeletale maturatie CANDIDATE -en nl HP:0005616 IAO:0000115 An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body NOT_TRANSLATED -en nl HP:0005617 rdfs:label Bilateral camptodactyly Bilaterale camptodactylie CANDIDATE -en nl HP:0005619 rdfs:label Thoracolumbar kyphosis Thoracolumbale kyfose CANDIDATE -en nl HP:0005619 IAO:0000115 Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance NOT_TRANSLATED -en nl HP:0005620 rdfs:label Hypermobility of interphalangeal joints Hypermobiliteit van interfalangeale gewrichten CANDIDATE -en nl HP:0005620 IAO:0000115 The ability of the interphalangeal joints to move beyond their normal range of motion The ability of the interphalangeal joints to move beyond their normal range of motion NOT_TRANSLATED -en nl HP:0005621 rdfs:label Trapezoidal vertebral body Trapezium-vormige wervellichamen CANDIDATE -en nl HP:0005621 IAO:0000115 An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side NOT_TRANSLATED -en nl HP:0005622 rdfs:label Broad long bones Brede lange beenderen CANDIDATE -en nl HP:0005622 IAO:0000115 Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately NOT_TRANSLATED -en nl HP:0005623 rdfs:label Absent ossification of calvaria Absent ossification of calvaria NOT_TRANSLATED -en nl HP:0005623 IAO:0000115 Absent ossification of the calvaria (vault of the skull) Absent ossification of the calvaria (vault of the skull) NOT_TRANSLATED -en nl HP:0005625 rdfs:label Osteoporosis of vertebrae Osteoporose van wervels CANDIDATE -en nl HP:0005625 IAO:0000115 Osteoporosis affecting predominantly the vertebrae Osteoporosis affecting predominantly the vertebrae NOT_TRANSLATED -en nl HP:0005626 rdfs:label Posterior fusion of lumbosacral vertebrae Posterieure fusie van lumbosacrale wervels CANDIDATE -en nl HP:0005626 IAO:0000115 Bony fusion of the posterior part of the L5 vertebral body with the sacrum Bony fusion of the posterior part of the L5 vertebral body with the sacrum NOT_TRANSLATED -en nl HP:0005627 rdfs:label Type D brachydactyly Type D brachydactylie CANDIDATE -en nl HP:0005627 IAO:0000115 This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes NOT_TRANSLATED -en nl HP:0005632 rdfs:label Absent forearm Afwezige onderarm CANDIDATE -en nl HP:0005638 rdfs:label Decreased anterioposterior diameter of lumbar vertebral bodies Verminderde anterioposterieure diameter van lumbale wervellichamen CANDIDATE -en nl HP:0005639 rdfs:label Hyperextensible hand joints Hyperextensibele hand gewrichten CANDIDATE -en nl HP:0005639 IAO:0000115 The ability of the joints of the hand to move beyond their normal range of motion The ability of the joints of the hand to move beyond their normal range of motion NOT_TRANSLATED -en nl HP:0005640 rdfs:label Abnormal vertebral segmentation and fusion Afwijkende vertebrale segmentatie en fusie CANDIDATE -en nl HP:0005643 rdfs:label Short 3rd toe Korte 3e teen CANDIDATE -en nl HP:0005643 IAO:0000115 Underdevelopment (hypoplasia) of the third toe Underdevelopment (hypoplasia) of the third toe NOT_TRANSLATED -en nl HP:0005645 rdfs:label Intervertebral disk calcification Tussenwervelschijf calcificatie CANDIDATE -en nl HP:0005645 IAO:0000115 The presence of abnormal calcium deposition of the intervertebral disk The presence of abnormal calcium deposition of the intervertebral disk NOT_TRANSLATED -en nl HP:0005648 rdfs:label Bilateral ulnar hypoplasia Bilaterale ulnaire hypoplasie CANDIDATE -en nl HP:0005648 IAO:0000115 Underdevelopment of the ulna on both sides Underdevelopment of the ulna on both sides NOT_TRANSLATED -en nl HP:0005650 rdfs:label 2-5 finger cutaneous syndactyly Cutane syndactylie tussen vingers 2 en 5 CANDIDATE -en nl HP:0005650 IAO:0000115 A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints NOT_TRANSLATED -en nl HP:0005652 rdfs:label Cortical sclerosis Corticale sclerose CANDIDATE -en nl HP:0005652 IAO:0000115 Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity NOT_TRANSLATED -en nl HP:0005653 rdfs:label Moderate generalized osteoporosis Matig gegeneraliseerde osteoporose CANDIDATE -en nl HP:0005653 IAO:0000115 Moderate osteoporosis Moderate osteoporosis NOT_TRANSLATED -en nl HP:0005655 rdfs:label Multiple digital exostoses Multipele digitale exostosen CANDIDATE -en nl HP:0005655 IAO:0000115 Multiple exostoses originating in the fingers and toes Multiple exostoses originating in the fingers and toes NOT_TRANSLATED -en nl HP:0005656 rdfs:label Positional foot deformity Vervorming van de positionele voet CANDIDATE -en nl HP:0005656 IAO:0000115 A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies NOT_TRANSLATED -en nl HP:0005659 rdfs:label Thoracic kyphoscoliosis Thoracale kyfoscoliose CANDIDATE -en nl HP:0005661 rdfs:label Salmonella osteomyelitis Salmonella osteomyelitis CANDIDATE -en nl HP:0005661 IAO:0000115 Osteomyelitis caused by infection with the bacteria, salmonella Osteomyelitis caused by infection with the bacteria, salmonella NOT_TRANSLATED -en nl HP:0005665 rdfs:label Massively thickened long bone cortices Masaal verdikte cortices van lang bot CANDIDATE -en nl HP:0005665 IAO:0000115 Extreme thickening of the cortex of long bones Extreme thickening of the cortex of long bones NOT_TRANSLATED -en nl HP:0005667 rdfs:label Os odontoideum Os odontoideum CANDIDATE -en nl HP:0005667 IAO:0000115 Separation of the odontoid process from the body of the axis Separation of the odontoid process from the body of the axis NOT_TRANSLATED -en nl HP:0005671 rdfs:label Bilateral intracerebral calcifications Bilaterale intracraniële calcificaties CANDIDATE -en nl HP:0005671 IAO:0000115 Deposition of calcium salts on both sides of the brain Deposition of calcium salts on both sides of the brain NOT_TRANSLATED -en nl HP:0005676 rdfs:label Rudimentary postaxial polydactyly of hands Rudimentaire postaxiale polydactylie van handen CANDIDATE -en nl HP:0005678 rdfs:label Anterior atlanto-occipital dislocation Anterieure atlanto-occipitale dislocatie CANDIDATE -en nl HP:0005679 rdfs:label Dupuytren contracture Contractuur van Dupuytren CANDIDATE -en nl HP:0005679 IAO:0000115 An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints NOT_TRANSLATED -en nl HP:0005680 rdfs:label Tongue-like lumbar vertebral deformities Tong-achtige lumbale wervel misvormingen CANDIDATE -en nl HP:0005680 IAO:0000115 A tongue-like protusion from the anterior aspect of lumbar vertebral bodies A tongue-like protusion from the anterior aspect of lumbar vertebral bodies NOT_TRANSLATED -en nl HP:0005681 rdfs:label Juvenile rheumatoid arthritis Juveniele reumatoïde artritis CANDIDATE -en nl HP:0005682 rdfs:label Talocalcaneal synostosis Talocalcaneale synostose CANDIDATE -en nl HP:0005684 rdfs:label Distal arthrogryposis Distale arthrogrypose CANDIDATE -en nl HP:0005684 IAO:0000115 An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function NOT_TRANSLATED -en nl HP:0005686 rdfs:label Patchy osteosclerosis Fragmentarische osteosclerose CANDIDATE -en nl HP:0005686 IAO:0000115 Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0005687 rdfs:label Deformed humeral heads Misvormde humerus koppen CANDIDATE -en nl HP:0005688 rdfs:label Dysplastic distal thumb phalanges with a central hole Dysplastische distale duim falangen met een centraal gat CANDIDATE -en nl HP:0005689 rdfs:label Dermatoglyphic ridges abnormal Dermatoglyphic ridges abnormal NOT_TRANSLATED -en nl HP:0005692 rdfs:label Joint hyperflexibility Gewrichtshypermobiliteit CANDIDATE -en nl HP:0005692 IAO:0000115 Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles NOT_TRANSLATED -en nl HP:0005694 rdfs:label Partial fusion of proximal row of carpal bones Partiële fusie van proximale rij van de carpale botten CANDIDATE -en nl HP:0005696 rdfs:label Postaxial polydactyly type A Postaxiale polydactylie type A CANDIDATE -en nl HP:0005696 IAO:0000115 Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal NOT_TRANSLATED -en nl HP:0005700 rdfs:label Increased bone density with cystic changes Verhoogde botdichtheid met cysteuze veranderingen CANDIDATE -en nl HP:0005701 rdfs:label Multiple enchondromatosis Multipele enchondromatose CANDIDATE -en nl HP:0005707 rdfs:label Bilateral triphalangeal thumbs Bilaterale triphalangeale duimen CANDIDATE -en nl HP:0005707 IAO:0000115 A bilateral form of triphalangeal thumb A bilateral form of triphalangeal thumb NOT_TRANSLATED -en nl HP:0005709 rdfs:label 2-3 toe cutaneous syndactyly 2-3 teen cutane syndactylie CANDIDATE -en nl HP:0005715 rdfs:label Flattened knee epiphyses Afgevlakte epifysen van knie CANDIDATE -en nl HP:0005716 rdfs:label Lethal skeletal dysplasia Lethale skelet dysplasie CANDIDATE -en nl HP:0005720 rdfs:label Shortening of all metacarpals Verkorting van alle metacarpalen CANDIDATE -en nl HP:0005720 IAO:0000115 Abnormal reduction in length of all metacarpal bones Abnormal reduction in length of all metacarpal bones NOT_TRANSLATED -en nl HP:0005722 rdfs:label Hyperextensible thumb Hyperextensibele duim CANDIDATE -en nl HP:0005722 IAO:0000115 The ability of the thumb joints to move beyond their normal range of motion The ability of the thumb joints to move beyond their normal range of motion NOT_TRANSLATED -en nl HP:0005723 rdfs:label Shoe-shaped sella turcica Schoen-vormige sella turcica CANDIDATE -en nl HP:0005725 rdfs:label Nonopposable triphalangeal thumb Niet-opponeerbare triphalangeale duim CANDIDATE -en nl HP:0005725 IAO:0000115 A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand NOT_TRANSLATED -en nl HP:0005726 rdfs:label Thumbs hypoplastic with bulbous tips Hypoplastische duimen met bulbeuze punten CANDIDATE -en nl HP:0005731 rdfs:label Cortical irregularity Corticale onregelmatigheid CANDIDATE -en nl HP:0005731 IAO:0000115 An abnormal irregularity of cortical bone An abnormal irregularity of cortical bone NOT_TRANSLATED -en nl HP:0005733 rdfs:label Spinal stenosis with reduced interpedicular distance Spinale stenose met verminderde interpediculaire afstand CANDIDATE -en nl HP:0005733 IAO:0000115 An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging) An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging) NOT_TRANSLATED -en nl HP:0005736 rdfs:label Short tibia Korte tibia CANDIDATE -en nl HP:0005736 IAO:0000115 Underdevelopment (reduced size) of the tibia Underdevelopment (reduced size) of the tibia NOT_TRANSLATED -en nl HP:0005739 rdfs:label Posterior subluxation of radial head Posterieure subluxatie van het radiuskopje CANDIDATE -en nl HP:0005739 IAO:0000115 Partial dislocation of the head of the radius in the posterior direction Partial dislocation of the head of the radius in the posterior direction NOT_TRANSLATED -en nl HP:0005743 rdfs:label Avascular necrosis of the capital femoral epiphysis Avasculaire necrose van de epifyse van femurkop CANDIDATE -en nl HP:0005743 IAO:0000115 Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature NOT_TRANSLATED -en nl HP:0005745 rdfs:label Congenital foot contractures Congenitale voet contracturen CANDIDATE -en nl HP:0005746 rdfs:label Osteosclerosis of the base of the skull Osteosclerose van de schedelbasis CANDIDATE -en nl HP:0005746 IAO:0000115 An increase in bone density affecting the basicranium (base of the skull) An increase in bone density affecting the basicranium (base of the skull) NOT_TRANSLATED -en nl HP:0005747 rdfs:label Easily subluxated first metacarpophalangeal joints Gemakkelijk subluxerende eerste metacarpale-falangeale gewrichten CANDIDATE -en nl HP:0005750 rdfs:label Lower-limb joint contracture Contracturen van de gewrichten van de onderste ledematen CANDIDATE -en nl HP:0005750 IAO:0000115 A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin NOT_TRANSLATED -en nl HP:0005752 rdfs:label Flattened moderately deformed vertebrae Afgevlakte matig misvormde wervels CANDIDATE -en nl HP:0005756 rdfs:label Neonatal epiphyseal stippling Neonatale vlekkerige calcificaties van epifyse CANDIDATE -en nl HP:0005756 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period NOT_TRANSLATED -en nl HP:0005758 rdfs:label Basilar impression Basilar impression NOT_TRANSLATED -en nl HP:0005758 IAO:0000115 Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum NOT_TRANSLATED -en nl HP:0005759 rdfs:label Small flat posterior fossa Kleine vlakke posterieure fossa CANDIDATE -en nl HP:0005759 IAO:0000115 An abnormally small and flat configuration of the posterior cranial fossa An abnormally small and flat configuration of the posterior cranial fossa NOT_TRANSLATED -en nl HP:0005764 rdfs:label Polyarticular arthritis Polyarticulaire artritis CANDIDATE -en nl HP:0005765 rdfs:label Sacral meningocele Sacrale meningocele CANDIDATE -en nl HP:0005766 rdfs:label Disproportionate shortening of the tibia Disproportionele verkorting van de tibia CANDIDATE -en nl HP:0005767 rdfs:label 1-2 toe complete cutaneous syndactyly 1-2 teen complete cutane syndactylie CANDIDATE -en nl HP:0005768 rdfs:label 2-4 toe cutaneous syndactyly 2-4 teen cutane syndactylie CANDIDATE -en nl HP:0005768 IAO:0000115 A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4 A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4 NOT_TRANSLATED -en nl HP:0005769 rdfs:label Fifth finger distal phalanx clinodactyly Vijfde vinger distale falanx clinodactylie CANDIDATE -en nl HP:0005769 IAO:0000115 Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger) Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger) NOT_TRANSLATED -en nl HP:0005772 rdfs:label Aplasia/Hypoplasia of the tibia Aplasia/Hypoplasie van de tibia CANDIDATE -en nl HP:0005772 IAO:0000115 Absence or underdevelopment of the tibia Absence or underdevelopment of the tibia NOT_TRANSLATED -en nl HP:0005773 rdfs:label Short forearm Korte onderarm CANDIDATE -en nl HP:0005773 IAO:0000115 Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm NOT_TRANSLATED -en nl HP:0005775 rdfs:label Multiple skeletal anomalies Multipele skelet anomalieën CANDIDATE -en nl HP:0005776 rdfs:label Carpal bone malsegmentation Carpale botten malsegmentatie CANDIDATE -en nl HP:0005780 rdfs:label Absent fourth finger distal interphalangeal crease Afwezige vierde vinger distale interfalangeale plooi CANDIDATE -en nl HP:0005780 IAO:0000115 Absence of the distal interphalangeal flexion creases of the fourth finger Absence of the distal interphalangeal flexion creases of the fourth finger NOT_TRANSLATED -en nl HP:0005781 rdfs:label Contractures of the large joints Contracturen van de grote gewrichten CANDIDATE -en nl HP:0005787 rdfs:label Lumbar platyspondyly Lumbale platyspondylie CANDIDATE -en nl HP:0005787 IAO:0000115 A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine NOT_TRANSLATED -en nl HP:0005788 rdfs:label Abnormal cervical myelogram Abnormaal cervicaal myelogram CANDIDATE -en nl HP:0005789 rdfs:label Generalized osteosclerosis Gegeneraliseerde osteosclerose CANDIDATE -en nl HP:0005789 IAO:0000115 An abnormal increase of bone mineral density with generalized involvement of the skeleton An abnormal increase of bone mineral density with generalized involvement of the skeleton NOT_TRANSLATED -en nl HP:0005790 rdfs:label Short mandibular condyles Korte mandibulaire condylus CANDIDATE -en nl HP:0005791 rdfs:label Cortical thickening of long bone diaphyses Corticale verdikking van diafysen van lange beenderen CANDIDATE -en nl HP:0005791 IAO:0000115 Abnormal thickening of the cortex of the diaphyseal region of long bones Abnormal thickening of the cortex of the diaphyseal region of long bones NOT_TRANSLATED -en nl HP:0005792 rdfs:label Short humerus Korte humerus CANDIDATE -en nl HP:0005792 IAO:0000115 Underdevelopment of the humerus Underdevelopment of the humerus NOT_TRANSLATED -en nl HP:0005793 rdfs:label Shortening of all distal phalanges of the toes Verkorting van alle distale falangen van de tenen CANDIDATE -en nl HP:0005793 IAO:0000115 Abnormally short distal phalanx of toe of all toes Abnormally short distal phalanx of toe of all toes NOT_TRANSLATED -en nl HP:0005798 rdfs:label Posterior radial head dislocation Posterieure radiuskop dislocatie CANDIDATE -en nl HP:0005798 IAO:0000115 A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction NOT_TRANSLATED -en nl HP:0005802 rdfs:label Coalescence of tarsal bones Tarsale coalitie CANDIDATE -en nl HP:0005807 rdfs:label Absent distal phalanges Afwezige distale falangen CANDIDATE -en nl HP:0005807 IAO:0000115 Aplasia (absence) of the distal phalanges Aplasia (absence) of the distal phalanges NOT_TRANSLATED -en nl HP:0005815 rdfs:label Supernumerary ribs Extra ribben CANDIDATE -en nl HP:0005815 IAO:0000115 The presence of more than 12 rib pairs The presence of more than 12 rib pairs NOT_TRANSLATED -en nl HP:0005817 rdfs:label Postaxial polysyndactyly of foot Postaxiale polysyndactylie van voet CANDIDATE -en nl HP:0005817 IAO:0000115 Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe) Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe) NOT_TRANSLATED -en nl HP:0005819 rdfs:label Short middle phalanx of finger Korte middelste falanx van vinger CANDIDATE -en nl HP:0005819 IAO:0000115 Short (hypoplastic) middle phalanx of finger, affecting one or more fingers Short (hypoplastic) middle phalanx of finger, affecting one or more fingers NOT_TRANSLATED -en nl HP:0005820 rdfs:label Superior rib anomalies Superior rib anomalies NOT_TRANSLATED -en nl HP:0005824 rdfs:label Clinodactyly of the 2nd toe Clinodactylie van de 2e teen CANDIDATE -en nl HP:0005824 IAO:0000115 Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe) Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED -en nl HP:0005825 rdfs:label Mixed sclerosis of humeral metaphyses Gemengde sclerose van metafysen van humerus CANDIDATE -en nl HP:0005828 rdfs:label Transient pulmonary infiltrates Voorbijgaande pulmonale infiltraten CANDIDATE -en nl HP:0005829 rdfs:label Maldevelopment of radioulnar joint Ontwikkelingsstoornis van radioulnaire gewricht CANDIDATE -en nl HP:0005830 rdfs:label Flexion contracture of toe Flexiecontractuur van de teen CANDIDATE -en nl HP:0005830 IAO:0000115 One or more bent (flexed) toe joints that cannot be straightened actively or passively One or more bent (flexed) toe joints that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0005831 rdfs:label Type B brachydactyly Type B brachydactylie CANDIDATE -en nl HP:0005832 rdfs:label Dysharmonic delayed bone age Dysharmonisch vertraaagde bot leeftijd CANDIDATE -en nl HP:0005832 IAO:0000115 A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones NOT_TRANSLATED -en nl HP:0005841 rdfs:label Calcific stippling of infantile cartilaginous skeleton Calcific stippling of infantile cartilaginous skeleton NOT_TRANSLATED -en nl HP:0005844 rdfs:label Rounded middle phalanx of finger Afgeronde middelste falanx van vinger CANDIDATE -en nl HP:0005844 IAO:0000115 An abnormally round shape of the middle phalanx of the finger An abnormally round shape of the middle phalanx of the finger NOT_TRANSLATED -en nl HP:0005849 rdfs:label Diffuse cerebral calcification Diffuse cerebrale calcificatie CANDIDATE -en nl HP:0005849 IAO:0000115 Generalized deposition of calcium salts within the brain Generalized deposition of calcium salts within the brain NOT_TRANSLATED -en nl HP:0005850 rdfs:label Congenital talipes calcaneovalgus Congenitale talipes calcaneovalgus CANDIDATE -en nl HP:0005852 rdfs:label Limited elbow extension and supination Beperkte elleboogextensie en supinatie CANDIDATE -en nl HP:0005853 rdfs:label Congenital foot contraction deformities Congenitale voet contractie deformiteiten CANDIDATE -en nl HP:0005855 rdfs:label Multiple prenatal fractures Multipele prenatale fracturen CANDIDATE -en nl HP:0005855 IAO:0000115 The presence of bone fractures in the prenatal period that are diagnosed at birth or before The presence of bone fractures in the prenatal period that are diagnosed at birth or before NOT_TRANSLATED -en nl HP:0005856 rdfs:label Ulnar radial head dislocation Ulnaire radiuskop dislocatie CANDIDATE -en nl HP:0005856 IAO:0000115 A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction NOT_TRANSLATED -en nl HP:0005857 rdfs:label Cervical spina bifida Cervicale spina bifida CANDIDATE -en nl HP:0005863 rdfs:label Type E brachydactyly Type E brachydactylie CANDIDATE -en nl HP:0005863 IAO:0000115 In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals NOT_TRANSLATED -en nl HP:0005864 rdfs:label Pseudoarthrosis Pseudoartrose CANDIDATE -en nl HP:0005864 IAO:0000115 "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or ""false joint"")" "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or ""false joint"")" NOT_TRANSLATED -en nl HP:0005866 rdfs:label Opposable triphalangeal thumb Opponeerbare triphalangeale duim CANDIDATE -en nl HP:0005866 IAO:0000115 A form of triphalangeal thumb that can be placed opposite the fingers of the same hand A form of triphalangeal thumb that can be placed opposite the fingers of the same hand NOT_TRANSLATED -en nl HP:0005867 rdfs:label 4-5 metacarpal synostosis Gefuseerde vierde en vijfde metacarpalen CANDIDATE -en nl HP:0005868 rdfs:label Metaphyseal enchondromatosis Metafysaire enchondromatose CANDIDATE -en nl HP:0005868 IAO:0000115 An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins NOT_TRANSLATED -en nl HP:0005871 rdfs:label Metaphyseal chondrodysplasia Metafysaire chondrodysplasie CANDIDATE -en nl HP:0005871 IAO:0000115 An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae NOT_TRANSLATED -en nl HP:0005872 rdfs:label Brachytelomesophalangy Brachytelomesofalangie CANDIDATE -en nl HP:0005872 IAO:0000115 Disproportionately short middle and distal phalanges compared to the hand/foot Disproportionately short middle and distal phalanges compared to the hand/foot NOT_TRANSLATED -en nl HP:0005873 rdfs:label Polysyndactyly of hallux Polysyndactylie van de hallux CANDIDATE -en nl HP:0005873 IAO:0000115 Combined syndactyly and polydactyly of the great toe Combined syndactyly and polydactyly of the great toe NOT_TRANSLATED -en nl HP:0005875 rdfs:label Increased dermatoglyphic whorls Increased dermatoglyphic whorls NOT_TRANSLATED -en nl HP:0005876 rdfs:label Progressive flexion contractures Progressieve flexie contracturen CANDIDATE -en nl HP:0005876 IAO:0000115 Progressively worsening joint contractures Progressively worsening joint contractures NOT_TRANSLATED -en nl HP:0005877 rdfs:label Multiple small vertebral fractures Multipele kleine vertebrale fracturen CANDIDATE -en nl HP:0005878 rdfs:label Enlarged sagittal diameter of the cervical canal Vergrote sagittale diameter van cervicale kanaal CANDIDATE -en nl HP:0005879 rdfs:label Congenital finger flexion contractures Congenitale vinger flexie contracturen CANDIDATE -en nl HP:0005879 IAO:0000115 Multiple bent (flexed) finger joints that cannot be straightened actively or passively Multiple bent (flexed) finger joints that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0005880 rdfs:label Metacarpophalangeal synostosis Metacarpofalangeale synostose CANDIDATE -en nl HP:0005880 IAO:0000115 Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint NOT_TRANSLATED -en nl HP:0005881 rdfs:label Spinal instability Spinale instabiliteit CANDIDATE -en nl HP:0005882 rdfs:label Dermatoglyphic variants Dermatoglyfische varianten CANDIDATE -en nl HP:0005885 rdfs:label Absent ossification of cervical vertebral bodies Afwezige ossificatie van cervicale wervellichamen CANDIDATE -en nl HP:0005885 IAO:0000115 A lack of bone mineralization of one or more body of cervical vertebra A lack of bone mineralization of one or more body of cervical vertebra NOT_TRANSLATED -en nl HP:0005886 rdfs:label Aphalangy of the hands Afalangie van de handen CANDIDATE -en nl HP:0005886 IAO:0000115 Absence of a digit or of one or more phalanges of a finger Absence of a digit or of one or more phalanges of a finger NOT_TRANSLATED -en nl HP:0005890 rdfs:label Hyperostosis cranialis interna Hyperostose cranialis interna CANDIDATE -en nl HP:0005890 IAO:0000115 Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull NOT_TRANSLATED -en nl HP:0005891 rdfs:label Progressive forearm bowing Progressieve bowing van onderarm CANDIDATE -en nl HP:0005891 IAO:0000115 Progressive bending or abnormal curvature of the forearm skeleton Progressive bending or abnormal curvature of the forearm skeleton NOT_TRANSLATED -en nl HP:0005892 rdfs:label Proximal tibial and fibular fusion Proximale tibia en fibula fusie CANDIDATE -en nl HP:0005894 rdfs:label Double first metacarpals Dubbele eerste metacarpalen CANDIDATE -en nl HP:0005894 IAO:0000115 Duplication of the metacarpal I bones Duplication of the metacarpal I bones NOT_TRANSLATED -en nl HP:0005895 rdfs:label Radial deviation of thumb terminal phalanx Radiale deviatie van terminale duimfalanx CANDIDATE -en nl HP:0005897 rdfs:label Severe generalized osteoporosis Ernstige gegeneraliseerde osteoporose CANDIDATE -en nl HP:0005897 IAO:0000115 Severe degree of osteoporosis Severe degree of osteoporosis NOT_TRANSLATED -en nl HP:0005900 rdfs:label Fifth metacarpal with ulnar notch Vijfde metacarpaal met ulnaire notch CANDIDATE -en nl HP:0005900 IAO:0000115 Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger) Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger) NOT_TRANSLATED -en nl HP:0005905 rdfs:label Abnormal cervical curvature Afwijkende cervicale curvatuur CANDIDATE -en nl HP:0005905 IAO:0000115 The presence of an abnormal curvature of the cervical vertebral column The presence of an abnormal curvature of the cervical vertebral column NOT_TRANSLATED -en nl HP:0005906 rdfs:label Delayed pneumatization of the mastoid process Vertraagde pneumatisatie van processus mastoideus CANDIDATE -en nl HP:0005906 IAO:0000115 An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0005910 rdfs:label Rhomboid or triangular shaped 5th finger middle phalanx Parallellogram- of driehoekig-vormige middelste falanx van 5e vinger CANDIDATE -en nl HP:0005910 IAO:0000115 Rhomboid or triangular shaped 5th (little) finger middle phalanx Rhomboid or triangular shaped 5th (little) finger middle phalanx NOT_TRANSLATED -en nl HP:0005912 rdfs:label Biliary atresia Biliaire atresie CANDIDATE -en nl HP:0005912 IAO:0000115 Atresia of the biliary tree Atresia of the biliary tree NOT_TRANSLATED -en nl HP:0005913 rdfs:label Abnormal metacarpal epiphysis morphology Afwijking van epifysen van de metacarpalen CANDIDATE -en nl HP:0005914 rdfs:label Aplasia/Hypoplasia involving the metacarpal bones Aplasia/Hypoplasie waarbij de metacarpale botten betrokken zijn CANDIDATE -en nl HP:0005914 IAO:0000115 Aplasia or Hypoplasia affecting the metacarpal bones Aplasia or Hypoplasia affecting the metacarpal bones NOT_TRANSLATED -en nl HP:0005916 rdfs:label Abnormal metacarpal morphology Afwijkende metacarpale morfologie CANDIDATE -en nl HP:0005916 IAO:0000115 Irregularly shaped metacarpal bones of varying degree Irregularly shaped metacarpal bones of varying degree NOT_TRANSLATED -en nl HP:0005917 rdfs:label Supernumerary metacarpal bones Extra metacarpale botten CANDIDATE -en nl HP:0005917 IAO:0000115 The presence of more than the normal number of metacarpal bones The presence of more than the normal number of metacarpal bones NOT_TRANSLATED -en nl HP:0005918 rdfs:label Abnormal finger phalanx morphology Afwijking van falanx van vinger CANDIDATE -en nl HP:0005918 IAO:0000115 Abnormalities affecting the phalanx of finger Abnormalities affecting the phalanx of finger NOT_TRANSLATED -en nl HP:0005920 rdfs:label Abnormal epiphysis morphology of the phalanges of the hand Afwijking van de epifysen van falangen van hand CANDIDATE -en nl HP:0005920 IAO:0000115 Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) NOT_TRANSLATED -en nl HP:0005922 rdfs:label Abnormal hand morphology Afwijkende hand morfologie CANDIDATE -en nl HP:0005922 IAO:0000115 Any structural anomaly of the hand Any structural anomaly of the hand NOT_TRANSLATED -en nl HP:0005923 rdfs:label Abnormal hand metaphysis morphology Afwijkingen van de metafysen van de hand CANDIDATE -en nl HP:0005924 rdfs:label Abnormal hand epiphysis morphology Afwijking van de epifysen van de hand CANDIDATE -en nl HP:0005924 IAO:0000115 Any abnormality of the epiphyses of the phalanges or metacarpal bones Any abnormality of the epiphyses of the phalanges or metacarpal bones NOT_TRANSLATED -en nl HP:0005925 rdfs:label Abnormal hand diaphysis morphology Afwijkingen van de diafysen van de hand CANDIDATE -en nl HP:0005926 rdfs:label Abnormal hand cortical bone morphology Afwijking van het corticaal bot van hand CANDIDATE -en nl HP:0005926 IAO:0000115 An anomaly of the outer shell (cortex) of a hand bone An anomaly of the outer shell (cortex) of a hand bone NOT_TRANSLATED -en nl HP:0005927 rdfs:label Aplasia/hypoplasia involving bones of the hand Aplasia/hypoplasie waarbij botten van de handen betrokken zijn CANDIDATE -en nl HP:0005927 IAO:0000115 Absence (due to failure to form) or underdevelopment of the bones of the hand Absence (due to failure to form) or underdevelopment of the bones of the hand NOT_TRANSLATED -en nl HP:0005928 rdfs:label Synostosis involving the fibula Synostose waarbij de fibula betrokken is CANDIDATE -en nl HP:0005929 rdfs:label Synostosis involving the tibia Synostose waarbij de tibia betrokken is CANDIDATE -en nl HP:0005930 rdfs:label Abnormal epiphysis morphology Afwijking van morfologie van epifyse CANDIDATE -en nl HP:0005930 IAO:0000115 An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk NOT_TRANSLATED -en nl HP:0005932 rdfs:label Abnormal renal corticomedullary differentiation Afwijking van renale corticomedullaire differentiatie CANDIDATE -en nl HP:0005932 IAO:0000115 An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla NOT_TRANSLATED -en nl HP:0005934 rdfs:label Imperfect vocal cord adduction Onvolmaakte adductie van stembanden CANDIDATE -en nl HP:0005938 rdfs:label Abnormal respiratory motile cilium morphology Afwijking van respiratoire trilhaar morfologie CANDIDATE -en nl HP:0005938 IAO:0000115 Abnormal arrangement of the structures of the motile cilium Abnormal arrangement of the structures of the motile cilium NOT_TRANSLATED -en nl HP:0005939 rdfs:label Multiple bilateral pneumothoraces Multipele bilaterale pneumothoraces CANDIDATE -en nl HP:0005941 rdfs:label Intermittent hyperpnea at rest Intermitterende hyperpnoe in rust CANDIDATE -en nl HP:0005942 rdfs:label Desquamative interstitial pneumonitis Desquamatieve interstitiële pneumonitis CANDIDATE -en nl HP:0005942 IAO:0000115 Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present NOT_TRANSLATED -en nl HP:0005943 rdfs:label Respiratory arrest Ademstilstand CANDIDATE -en nl HP:0005944 rdfs:label Bilateral lung agenesis Bilaterale longagenesie CANDIDATE -en nl HP:0005944 IAO:0000115 Bilateral lack of development of the lungs Bilateral lack of development of the lungs NOT_TRANSLATED -en nl HP:0005945 rdfs:label Laryngeal obstruction Laryngeale obstructie CANDIDATE -en nl HP:0005945 IAO:0000115 Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress NOT_TRANSLATED -en nl HP:0005946 rdfs:label Ventilator dependence with inability to wean Ventilatie afhankelijkheid zonder mogelijkheid tot weanen CANDIDATE -en nl HP:0005947 rdfs:label Decreased sensitivity to hypoxemia Verminderde sensitiviteit voor hypoxemie CANDIDATE -en nl HP:0005947 IAO:0000115 Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration NOT_TRANSLATED -en nl HP:0005948 rdfs:label Multiple pulmonary cysts Cysteuze longziekte CANDIDATE -en nl HP:0005948 IAO:0000115 The presence of multiple lung cysts The presence of multiple lung cysts NOT_TRANSLATED -en nl HP:0005949 rdfs:label Apneic episodes in infancy Apneutische episodes tijdens jeugd CANDIDATE -en nl HP:0005949 IAO:0000115 Recurrent episodes of apnea occurring during infancy Recurrent episodes of apnea occurring during infancy NOT_TRANSLATED -en nl HP:0005950 rdfs:label Laryngeal web Laryngeaal web CANDIDATE -en nl HP:0005950 IAO:0000115 A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords NOT_TRANSLATED -en nl HP:0005951 rdfs:label Progressive inspiratory stridor Progressieve inspiratoire stridor CANDIDATE -en nl HP:0005954 rdfs:label Pulmonary capillary hemangiomatosis Pulmonale capillaire hemangiomatose CANDIDATE -en nl HP:0005956 rdfs:label Anteroposteriorly shortened larynx Anteroposterieur verkorte larynx CANDIDATE -en nl HP:0005956 IAO:0000115 Abnormal shortening of the larynx in the anteroposterior (front to back) axis Abnormal shortening of the larynx in the anteroposterior (front to back) axis NOT_TRANSLATED -en nl HP:0005957 rdfs:label Breathing dysregulation Ademdysregulatie CANDIDATE -en nl HP:0005959 rdfs:label Impaired gluconeogenesis Verminderde gluconeogenese CANDIDATE -en nl HP:0005959 IAO:0000115 An impairment of gluconeogenesis An impairment of gluconeogenesis NOT_TRANSLATED -en nl HP:0005961 rdfs:label Hypoargininemia Hypoargininemie CANDIDATE -en nl HP:0005961 IAO:0000115 A decreased concentration of arginine in the blood A decreased concentration of arginine in the blood NOT_TRANSLATED -en nl HP:0005964 rdfs:label Intermittent hypothermia Intermitterende hypothermie CANDIDATE -en nl HP:0005964 IAO:0000115 Episodes of reduced body termperature Episodes of reduced body termperature NOT_TRANSLATED -en nl HP:0005967 rdfs:label Mixed respiratory and metabolic acidosis Gemengde respiratoire en metabole acidose CANDIDATE -en nl HP:0005968 rdfs:label Temperature instability Temperatuur instabiliteit CANDIDATE -en nl HP:0005968 IAO:0000115 Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature NOT_TRANSLATED -en nl HP:0005972 rdfs:label Respiratory acidosis Respiratoire acidose CANDIDATE -en nl HP:0005972 IAO:0000115 Acidosis because of respiratory retention of carbon dioxide Acidosis because of respiratory retention of carbon dioxide NOT_TRANSLATED -en nl HP:0005973 rdfs:label Fructose intolerance Fructose intolerantie CANDIDATE -en nl HP:0005973 IAO:0000115 Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance NOT_TRANSLATED -en nl HP:0005974 rdfs:label Episodic ketoacidosis Episodische ketoacidose CANDIDATE -en nl HP:0005974 IAO:0000115 Intermittent episodes of ketoacidosis Intermittent episodes of ketoacidosis NOT_TRANSLATED -en nl HP:0005976 rdfs:label Hyperkalemic metabolic acidosis Hyperkaliëmische metabole acidose CANDIDATE -en nl HP:0005977 rdfs:label Hypochloremic metabolic alkalosis Hypochloremische metabole alkalose CANDIDATE -en nl HP:0005978 rdfs:label Type II diabetes mellitus Type 2 diabetes mellitus CANDIDATE -en nl HP:0005978 IAO:0000115 A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia NOT_TRANSLATED -en nl HP:0005979 rdfs:label Metabolic ketoacidosis Metabole ketoacidose CANDIDATE -en nl HP:0005979 IAO:0000115 A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake NOT_TRANSLATED -en nl HP:0005982 rdfs:label Reduced phenylalanine hydroxylase level Verminderde fenylalanine hydroxylase activiteit CANDIDATE -en nl HP:0005982 IAO:0000115 A reduction in phenylalanine 4-monooxygenase level A reduction in phenylalanine 4-monooxygenase level NOT_TRANSLATED -en nl HP:0005984 rdfs:label Elevated maternal serum alpha-fetoprotein Verhoogd maternaal serum alfafoetoproteïne CANDIDATE -en nl HP:0005984 IAO:0000115 An elevation of alpha-feto protein in the maternal serum An elevation of alpha-feto protein in the maternal serum NOT_TRANSLATED -en nl HP:0005986 rdfs:label Limitation of neck motion Beperking van nekbeweging CANDIDATE -en nl HP:0005987 rdfs:label Multinodular goiter Multinodulair struma CANDIDATE -en nl HP:0005987 IAO:0000115 Enlargement of the thyroid gland related to multiple nodules in the thyroid gland Enlargement of the thyroid gland related to multiple nodules in the thyroid gland NOT_TRANSLATED -en nl HP:0005988 rdfs:label Congenital muscular torticollis Congenitale musculaire torticollis CANDIDATE -en nl HP:0005988 IAO:0000115 A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending NOT_TRANSLATED -en nl HP:0005989 rdfs:label Redundant neck skin Overtollige nek huid CANDIDATE -en nl HP:0005989 IAO:0000115 Excess skin around the neck, often lying in horizontal folds Excess skin around the neck, often lying in horizontal folds NOT_TRANSLATED -en nl HP:0005990 rdfs:label Thyroid hypoplasia Schildklier hypoplasie CANDIDATE -en nl HP:0005990 IAO:0000115 Developmental hypoplasia of the thyroid gland Developmental hypoplasia of the thyroid gland NOT_TRANSLATED -en nl HP:0005991 rdfs:label Limited neck flexion Beperkte nek flexie CANDIDATE -en nl HP:0005991 IAO:0000115 Reduced abilty to lower the chin towards the chest by bending the neck Reduced abilty to lower the chin towards the chest by bending the neck NOT_TRANSLATED -en nl HP:0005994 rdfs:label Nodular goiter Nodulair struma CANDIDATE -en nl HP:0005994 IAO:0000115 Enlargement of the thyroid gland related to one or more nodules in the thyroid gland Enlargement of the thyroid gland related to one or more nodules in the thyroid gland NOT_TRANSLATED -en nl HP:0005995 rdfs:label Decreased adipose tissue around neck Afgenomen vetweefsel rond de nek CANDIDATE -en nl HP:0005995 IAO:0000115 Reduced amount of adipose tissue in the region of the neck Reduced amount of adipose tissue in the region of the neck NOT_TRANSLATED -en nl HP:0005997 rdfs:label Neck joint contracture Beperkte beweging van nek vanwege contracturen CANDIDATE -en nl HP:0005999 rdfs:label Ureteral atresia Urethrale atresie CANDIDATE -en nl HP:0005999 IAO:0000115 A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter NOT_TRANSLATED -en nl HP:0006000 rdfs:label Ureteral obstruction Obstructie van ureter CANDIDATE -en nl HP:0006000 IAO:0000115 Obstruction of the flow of urine through the ureter Obstruction of the flow of urine through the ureter NOT_TRANSLATED -en nl HP:0006006 rdfs:label Hypotrophy of the small hand muscles Hypoplasie van kleine handspieren CANDIDATE -en nl HP:0006008 rdfs:label Unilateral brachydactyly Unilaterale brachydactylie CANDIDATE -en nl HP:0006009 rdfs:label Broad phalanx Breed falanx CANDIDATE -en nl HP:0006009 IAO:0000115 Increased side-to-side width of one or more phalanges of the fingers or toes Increased side-to-side width of one or more phalanges of the fingers or toes NOT_TRANSLATED -en nl HP:0006011 rdfs:label Cuboidal metacarpal Kubusvormige metacarpaal CANDIDATE -en nl HP:0006011 IAO:0000115 Severely shortened metacarpal with a cuboidal appearance Severely shortened metacarpal with a cuboidal appearance NOT_TRANSLATED -en nl HP:0006012 rdfs:label Widened metacarpal shaft Verwijde metacarpale schaft CANDIDATE -en nl HP:0006014 rdfs:label Abnormally shaped carpal bones Afwijkende vorm van de carpale botten CANDIDATE -en nl HP:0006016 rdfs:label Delayed phalangeal epiphyseal ossification Vertraagde falangeale epifysaire ossificatie CANDIDATE -en nl HP:0006016 IAO:0000115 Delay in the process of formation and maturation of the epiphysis of one or more phalanx Delay in the process of formation and maturation of the epiphysis of one or more phalanx NOT_TRANSLATED -en nl HP:0006019 rdfs:label Reduced proximal interphalangeal joint space Vernauwde proximale interfalangeale gewrichtsspleet CANDIDATE -en nl HP:0006026 rdfs:label Rounded epiphyses Afgeronde epifysen CANDIDATE -en nl HP:0006028 rdfs:label Metaphyseal cupping of metacarpals Metaphyseal cupping of metacarpals NOT_TRANSLATED -en nl HP:0006028 IAO:0000115 Metaphyseal cupping affecting the metacarpal bones Metaphyseal cupping affecting the metacarpal bones NOT_TRANSLATED -en nl HP:0006035 rdfs:label Cone-shaped epiphyses of phalanges 2 to 5 Kegel-vormige epifysen van falangen 2 tot 5 CANDIDATE -en nl HP:0006040 rdfs:label Long second metacarpal Lange tweede metacarpaal CANDIDATE -en nl HP:0006042 rdfs:label Y-shaped metacarpals Y-vormige metacarpalen CANDIDATE -en nl HP:0006042 IAO:0000115 Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly NOT_TRANSLATED -en nl HP:0006045 rdfs:label Short pointed phalanges Korte puntige falangen CANDIDATE -en nl HP:0006048 rdfs:label Distal widening of metacarpals Distale verwijding van metacarpalen CANDIDATE -en nl HP:0006048 IAO:0000115 Abnormal increase in width of the distal region of the metacarpal bones Abnormal increase in width of the distal region of the metacarpal bones NOT_TRANSLATED -en nl HP:0006051 rdfs:label Metacarpal periosteal thickening Metacarpale periosteale verdikking CANDIDATE -en nl HP:0006055 rdfs:label Ulnar deviated club hands Ulnar deviated club hands NOT_TRANSLATED -en nl HP:0006059 rdfs:label Cone-shaped metacarpal epiphyses Kegel-vormige metacarpale epifysen CANDIDATE -en nl HP:0006059 IAO:0000115 A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones NOT_TRANSLATED -en nl HP:0006060 rdfs:label Tombstone-shaped proximal phalanges Grafsteen-vormige proximale falangen CANDIDATE -en nl HP:0006064 rdfs:label Limited interphalangeal movement Beperkte interfalangeale beweging CANDIDATE -en nl HP:0006067 rdfs:label Multiple carpal ossification centers Multipele centra van carpale ossificatie CANDIDATE -en nl HP:0006067 IAO:0000115 A delay in the process of formation and maturation of the epiphysis of one or more long bones A delay in the process of formation and maturation of the epiphysis of one or more long bones NOT_TRANSLATED -en nl HP:0006070 rdfs:label Metacarpophalangeal joint contracture Metacarpofalangeale gewrichtscontractuur CANDIDATE -en nl HP:0006070 IAO:0000115 A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED -en nl HP:0006077 rdfs:label Absent proximal finger flexion creases Afwezige proximale vinger flexie plooien CANDIDATE -en nl HP:0006077 IAO:0000115 Absence of the proximal interphalangeal flexion creases of the fingers Absence of the proximal interphalangeal flexion creases of the fingers NOT_TRANSLATED -en nl HP:0006086 rdfs:label Thin metacarpal cortices Dunne metacarpale cortices CANDIDATE -en nl HP:0006088 rdfs:label 1-5 finger complete cutaneous syndactyly 1-5 vinger complete cutane syndactylie CANDIDATE -en nl HP:0006089 rdfs:label Palmar hyperhidrosis Palmaire hyperhidrose CANDIDATE -en nl HP:0006092 rdfs:label Malaligned carpal bone Verkeerd uitgelijnd carpaal bot CANDIDATE -en nl HP:0006092 IAO:0000115 Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna) Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna) NOT_TRANSLATED -en nl HP:0006094 rdfs:label Finger joint hypermobility Vingergewricht hypermobiliteit CANDIDATE -en nl HP:0006095 rdfs:label Wide tufts of distal phalanges Wide tufts of distal phalanges NOT_TRANSLATED -en nl HP:0006097 rdfs:label 3-4 finger syndactyly 3-4 vinger syndactylie CANDIDATE -en nl HP:0006097 IAO:0000115 Syndactyly with fusion of fingers three and four Syndactyly with fusion of fingers three and four NOT_TRANSLATED -en nl HP:0006099 rdfs:label Metacarpophalangeal joint hyperextensibility Metacarpofalangeale gewricht hyperextensibiliteit CANDIDATE -en nl HP:0006099 IAO:0000115 Increased mobility of one ore more metacarpophalangeal joint Increased mobility of one ore more metacarpophalangeal joint NOT_TRANSLATED -en nl HP:0006101 rdfs:label Finger syndactyly Vingersyndactylie CANDIDATE -en nl HP:0006101 IAO:0000115 "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED -en nl HP:0006106 rdfs:label Absent trapezoid bone Afwezig os trapezium CANDIDATE -en nl HP:0006107 rdfs:label Fingerpad telangiectases Fingerpad telangiectases NOT_TRANSLATED -en nl HP:0006107 IAO:0000115 Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers NOT_TRANSLATED -en nl HP:0006108 rdfs:label Tapered metacarpals Tapered metacarpals NOT_TRANSLATED -en nl HP:0006108 IAO:0000115 Metacarpal that becomes thinner toward the distal end Metacarpal that becomes thinner toward the distal end NOT_TRANSLATED -en nl HP:0006109 rdfs:label Absent phalangeal crease Absent phalangeal crease NOT_TRANSLATED -en nl HP:0006109 IAO:0000115 Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers) Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers) NOT_TRANSLATED -en nl HP:0006110 rdfs:label Shortening of all middle phalanges of the fingers Verkorting van alle middelste falangen van de vingers CANDIDATE -en nl HP:0006110 IAO:0000115 Short, hypoplastic middle phalanx of finger, affecting all fingers Short, hypoplastic middle phalanx of finger, affecting all fingers NOT_TRANSLATED -en nl HP:0006112 rdfs:label Expanded phalanges with widened medullary cavities Uitgebreide falangen met verwijde medullaire holten CANDIDATE -en nl HP:0006114 rdfs:label Multiple palmar creases Multipele handlijnen CANDIDATE -en nl HP:0006114 IAO:0000115 The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease) The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease) NOT_TRANSLATED -en nl HP:0006118 rdfs:label Shortening of all distal phalanges of the fingers Verkorting van alle distale falangen van de vingers CANDIDATE -en nl HP:0006118 IAO:0000115 Hypoplasia of all of the distal phalanx of finger Hypoplasia of all of the distal phalanx of finger NOT_TRANSLATED -en nl HP:0006119 rdfs:label Proximal tapering of metacarpals Proximal tapering of metacarpals NOT_TRANSLATED -en nl HP:0006119 IAO:0000115 Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance NOT_TRANSLATED -en nl HP:0006121 rdfs:label Acral ulceration Acrale ulceratie leidend tot auto-amputatie van vingers CANDIDATE -en nl HP:0006121 IAO:0000115 A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe NOT_TRANSLATED -en nl HP:0006127 rdfs:label Long proximal phalanx of finger Lange proximale falanx van vinger CANDIDATE -en nl HP:0006127 IAO:0000115 Increased length of the proximal phalanx of finger Increased length of the proximal phalanx of finger NOT_TRANSLATED -en nl HP:0006129 rdfs:label Drumstick terminal phalanges Terminale trommelstok falangen CANDIDATE -en nl HP:0006129 IAO:0000115 Rounding and broadening of the tufts of the distal phalanges Rounding and broadening of the tufts of the distal phalanges NOT_TRANSLATED -en nl HP:0006134 rdfs:label Enlarged metacarpal epiphyses Vergrote metacarpale epifysen CANDIDATE -en nl HP:0006134 IAO:0000115 Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges) Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges) NOT_TRANSLATED -en nl HP:0006135 rdfs:label Decreased finger mobility Verminderde vinger mobiliteit CANDIDATE -en nl HP:0006136 rdfs:label Bilateral postaxial polydactyly Bilaterale postaxiale polydactylie CANDIDATE -en nl HP:0006140 rdfs:label Premature fusion of phalangeal epiphyses Prematuur fusie van falangeale epifysen CANDIDATE -en nl HP:0006140 IAO:0000115 Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth NOT_TRANSLATED -en nl HP:0006143 rdfs:label Abnormal finger flexion creases Afwijkende vinger flexie plooien CANDIDATE -en nl HP:0006144 rdfs:label Shortening of all proximal phalanges of the fingers Verkorting van alle proximale falangen van de vingers CANDIDATE -en nl HP:0006144 IAO:0000115 Congenital hypoplasia of proximal phalanx of finger or all fingers Congenital hypoplasia of proximal phalanx of finger or all fingers NOT_TRANSLATED -en nl HP:0006145 rdfs:label Central Y-shaped metacarpal Centrale Y-vormige metacarpaal CANDIDATE -en nl HP:0006145 IAO:0000115 A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal NOT_TRANSLATED -en nl HP:0006146 rdfs:label Broad metacarpal epiphyses Brede metacarpale epifysen CANDIDATE -en nl HP:0006146 IAO:0000115 Increased side-to-side width of the metacarpal epiphyses Increased side-to-side width of the metacarpal epiphyses NOT_TRANSLATED -en nl HP:0006147 rdfs:label Progressive fusion 2nd-5th pip joints Progressieve fusiie 2e-5e pip gewrichten CANDIDATE -en nl HP:0006149 rdfs:label Increased laxity of fingers Verhoogde beweeglijkheid van vingers CANDIDATE -en nl HP:0006150 rdfs:label Swan neck-like deformities of the fingers Zwanenhalsvingers CANDIDATE -en nl HP:0006150 IAO:0000115 A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke NOT_TRANSLATED -en nl HP:0006152 rdfs:label Proximal symphalangism of hands Proximaal symfalangisme van handen CANDIDATE -en nl HP:0006152 IAO:0000115 The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases NOT_TRANSLATED -en nl HP:0006153 rdfs:label Disharmonious carpal bone Disharmonieus carpaal bot CANDIDATE -en nl HP:0006155 rdfs:label Long phalanx of finger Lang falanx van vinger CANDIDATE -en nl HP:0006155 IAO:0000115 Increased length of multiple or a single phalanx of finger Increased length of multiple or a single phalanx of finger NOT_TRANSLATED -en nl HP:0006156 rdfs:label Ulnar deviation of thumb Ulnaire deviatie van de duim CANDIDATE -en nl HP:0006156 IAO:0000115 Bending or curvature of a thumb towards the ulnar side (towards the ring finger) Bending or curvature of a thumb towards the ulnar side (towards the ring finger) NOT_TRANSLATED -en nl HP:0006157 rdfs:label Prominent palmar flexion creases Prominente handlijnen CANDIDATE -en nl HP:0006159 rdfs:label Mesoaxial hand polydactyly Mesoaxiale hand polydactylie CANDIDATE -en nl HP:0006159 IAO:0000115 The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly NOT_TRANSLATED -en nl HP:0006160 rdfs:label Irregular metacarpals Irregulaire metacarpalen CANDIDATE -en nl HP:0006160 IAO:0000115 Irregular morphology of one or more metacarpal bones Irregular morphology of one or more metacarpal bones NOT_TRANSLATED -en nl HP:0006161 rdfs:label Short metacarpals with rounded proximal ends Korte metacarpalen met ronde proximale uiteinden CANDIDATE -en nl HP:0006162 rdfs:label Soft tissue swelling of interphalangeal joints Zwelling van de weke delen van interfalangeale gewrichten CANDIDATE -en nl HP:0006163 rdfs:label Enlarged metacarpophalangeal joints Vergrote metacarpofalangeale gewrichten CANDIDATE -en nl HP:0006165 rdfs:label Proportionate shortening of all digits Proportionele verkorting van alle vingers/tenen CANDIDATE -en nl HP:0006166 rdfs:label Tubular metacarpal bones Tubulaire metacarpalen CANDIDATE -en nl HP:0006167 rdfs:label Prominent proximal interphalangeal joints Prominente proximale interfalangeale gewrichten CANDIDATE -en nl HP:0006169 rdfs:label Decreased mobility 3rd-5th fingers Verminderde mobiliteit 3e-5e vingers CANDIDATE -en nl HP:0006170 rdfs:label Chess-pawn distal phalanges Chess-pawn distal phalanges NOT_TRANSLATED -en nl HP:0006170 IAO:0000115 A morphological abnormality of distal phalanges such that they have the appearance of chess pawns A morphological abnormality of distal phalanges such that they have the appearance of chess pawns NOT_TRANSLATED -en nl HP:0006172 rdfs:label Flattened, squared-off epiphyses of tubular bones Flattened, squared-off epiphyses of tubular bones NOT_TRANSLATED -en nl HP:0006174 rdfs:label Metacarpal diaphyseal endosteal sclerosis Endostale sclerose van diafyse van metacarpaal CANDIDATE -en nl HP:0006174 IAO:0000115 Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone NOT_TRANSLATED -en nl HP:0006175 rdfs:label Proximal phalangeal periosteal thickening Proximale periosteale verdikking van falanx CANDIDATE -en nl HP:0006176 rdfs:label Two carpal ossification centers present at birth Twee centra van carpale ossificatie aanwezig tijdens geboorte CANDIDATE -en nl HP:0006179 rdfs:label Pseudoepiphyses of second metacarpal Pseudo-epifysen van de 2e metacarpaal CANDIDATE -en nl HP:0006180 rdfs:label Crowded carpal bones Overvolle carpale botten CANDIDATE -en nl HP:0006184 rdfs:label Decreased palmar creases Verminderde handlijnen CANDIDATE -en nl HP:0006184 IAO:0000115 Poorly defined or shallow palmar creases Poorly defined or shallow palmar creases NOT_TRANSLATED -en nl HP:0006185 rdfs:label Enlarged proximal interphalangeal joints Vergrote proximale interfalangeale gewrichten CANDIDATE -en nl HP:0006189 rdfs:label Prominent interdigital folds Prominente interdigitale plooien CANDIDATE -en nl HP:0006190 rdfs:label Radially deviated wrists Radiaal gedevieerde polsen CANDIDATE -en nl HP:0006191 rdfs:label Deep palmar crease Diepe handlijn CANDIDATE -en nl HP:0006191 IAO:0000115 Excessively deep creases of the palm Excessively deep creases of the palm NOT_TRANSLATED -en nl HP:0006192 rdfs:label Tapered phalanx of finger Tapered phalanx of finger NOT_TRANSLATED -en nl HP:0006192 IAO:0000115 Phalanges of the fingers becoming thinner toward the distal end Phalanges of the fingers becoming thinner toward the distal end NOT_TRANSLATED -en nl HP:0006193 rdfs:label Thimble-shaped middle phalanges of hand Vingerhoed-vormige middelste falangen van hand CANDIDATE -en nl HP:0006193 IAO:0000115 The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat NOT_TRANSLATED -en nl HP:0006200 rdfs:label Widened distal phalanges Verbrede distale falangen CANDIDATE -en nl HP:0006201 rdfs:label Hypermobility of distal interphalangeal joints Hypermobiliteit van de distale interfalangeale gewrichten CANDIDATE -en nl HP:0006202 rdfs:label Osteolysis of scaphoids Osteolyse van scaphoïden CANDIDATE -en nl HP:0006203 rdfs:label Decreased movement range in interphalangeal joints Verminderd bewegingsbereik in interfalangeale gewrichten CANDIDATE -en nl HP:0006205 rdfs:label Irregular phalanges Irregulaire falangen CANDIDATE -en nl HP:0006205 IAO:0000115 Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance NOT_TRANSLATED -en nl HP:0006206 rdfs:label Hypersegmentation of proximal phalanx of second finger Hypersegmentatie van proximale falanx van tweede vinger CANDIDATE -en nl HP:0006206 IAO:0000115 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger NOT_TRANSLATED -en nl HP:0006207 rdfs:label Partial fusion of carpals Partiële fusie van carpalen CANDIDATE -en nl HP:0006208 rdfs:label Metaphyseal cupping of proximal phalanges Metaphyseal cupping of proximal phalanges NOT_TRANSLATED -en nl HP:0006208 IAO:0000115 Metaphyseal cupping affecting the proximal phalanges Metaphyseal cupping affecting the proximal phalanges NOT_TRANSLATED -en nl HP:0006209 rdfs:label Partial-complete absence of 5th phalanges Partieel-complete afwezigheid van 5e falangen CANDIDATE -en nl HP:0006210 rdfs:label Postaxial oligodactyly Postaxiale oligodactylie CANDIDATE -en nl HP:0006213 rdfs:label Thin proximal phalanges with broad epiphyses of the hand Dunne proximale falangen met brede epifysen van de hand CANDIDATE -en nl HP:0006216 rdfs:label Single interphalangeal crease of fifth finger Enkele interfalangeale plooi van 5e vinger CANDIDATE -en nl HP:0006216 IAO:0000115 Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger NOT_TRANSLATED -en nl HP:0006217 rdfs:label Limited mobility of proximal interphalangeal joint Beperkte mobiliteit van proximale interfalangeale gewricht CANDIDATE -en nl HP:0006224 rdfs:label Tapering pointed ends of distal finger phalanges Tapering pointed ends of distal finger phalanges NOT_TRANSLATED -en nl HP:0006224 IAO:0000115 A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms) A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms) NOT_TRANSLATED -en nl HP:0006226 rdfs:label Osteoarthritis of the first carpometacarpal joint Osteoartritis van 1e carpometacarpale gewricht CANDIDATE -en nl HP:0006228 rdfs:label Valgus hand deformity Valgus hand deformiteit CANDIDATE -en nl HP:0006230 rdfs:label Unilateral oligodactyly Unilaterale oligodactylie CANDIDATE -en nl HP:0006232 rdfs:label Expanded metacarpals with widened medullary cavities Uitgebreide metacarpalen met verwijde medullaire holten CANDIDATE -en nl HP:0006233 rdfs:label Osteoarthritis of the distal interphalangeal joint Osteoartritis van het distale interfalangeale gewricht CANDIDATE -en nl HP:0006234 rdfs:label Osteolysis involving tarsal bones Osteolyse waarbij tarsale botten betrokken zijn CANDIDATE -en nl HP:0006234 IAO:0000115 An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones NOT_TRANSLATED -en nl HP:0006236 rdfs:label Slender metacarpals Slanke metacarpalen CANDIDATE -en nl HP:0006236 IAO:0000115 Decreased width of the metacarpal bones (that is, reduced diameter) Decreased width of the metacarpal bones (that is, reduced diameter) NOT_TRANSLATED -en nl HP:0006237 rdfs:label Prominent interphalangeal joints Prominente interfalangeale gewrichten CANDIDATE -en nl HP:0006239 rdfs:label Shortening of all middle phalanges of the toes Verkorting van alle middelste falangen van de tenen CANDIDATE -en nl HP:0006239 IAO:0000115 Abnormal shortening of all middle phalanges of toes Abnormal shortening of all middle phalanges of toes NOT_TRANSLATED -en nl HP:0006243 rdfs:label Phalangeal dislocation Falangeale dislocatie CANDIDATE -en nl HP:0006247 rdfs:label Enlarged interphalangeal joints Vergrote interfalangeale gewrichten CANDIDATE -en nl HP:0006248 rdfs:label Limited wrist movement Beperkte pols beweging CANDIDATE -en nl HP:0006248 IAO:0000115 An abnormal limitation of the mobility of the wrist An abnormal limitation of the mobility of the wrist NOT_TRANSLATED -en nl HP:0006251 rdfs:label Limited wrist extension Beperkte pols extensie CANDIDATE -en nl HP:0006252 rdfs:label Interphalangeal joint erosions Interfalangeale gewrichtserosies CANDIDATE -en nl HP:0006253 rdfs:label Swelling of proximal interphalangeal joints Zwelling van proximale interfalangeale gewrichten CANDIDATE -en nl HP:0006254 rdfs:label Elevated alpha-fetoprotein Verhoogd alfafoetoproteïne CANDIDATE -en nl HP:0006254 IAO:0000115 An increased concentration of alpha-fetoprotein An increased concentration of alpha-fetoprotein NOT_TRANSLATED -en nl HP:0006256 rdfs:label Abnormality of hand joint mobility Afwijking van het hand gewrichtsmobiliteit CANDIDATE -en nl HP:0006257 rdfs:label Abnormality of carpal bone ossification Afwijking van carpale bot ossificatie CANDIDATE -en nl HP:0006261 rdfs:label Abnormal phalangeal joint morphology of the hand Afwijking van falangeale gewrichten van de hand CANDIDATE -en nl HP:0006262 rdfs:label Aplasia/Hypoplasia of the 5th finger Aplasie/Hypoplasie van 5e vinger CANDIDATE -en nl HP:0006262 IAO:0000115 A small/hypoplastic or absent/aplastic 5th finger A small/hypoplastic or absent/aplastic 5th finger NOT_TRANSLATED -en nl HP:0006263 rdfs:label Abnormality of the epiphyses of the 2nd finger Afwijking van de epifysen van de 2e vinger CANDIDATE -en nl HP:0006263 IAO:0000115 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger NOT_TRANSLATED -en nl HP:0006264 rdfs:label Aplasia/Hypoplasia of the 2nd finger Aplasie/Hypoplasie van 2e vinger CANDIDATE -en nl HP:0006264 IAO:0000115 A small/hypoplastic or absent/aplastic 2nd finger A small/hypoplastic or absent/aplastic 2nd finger NOT_TRANSLATED -en nl HP:0006265 rdfs:label Aplasia/Hypoplasia of fingers Aplasie/Hypoplasie van vingers CANDIDATE -en nl HP:0006265 IAO:0000115 Small/hypoplastic or absent/aplastic fingers Small/hypoplastic or absent/aplastic fingers NOT_TRANSLATED -en nl HP:0006266 rdfs:label Small placenta Kleine placenta CANDIDATE -en nl HP:0006266 IAO:0000115 Reduced size of the placenta Reduced size of the placenta NOT_TRANSLATED -en nl HP:0006267 rdfs:label Large placenta Grote placenta CANDIDATE -en nl HP:0006267 IAO:0000115 Increased size of the placenta Increased size of the placenta NOT_TRANSLATED -en nl HP:0006268 rdfs:label Fluctuating splenomegaly Fluctuerende splenomegalie CANDIDATE -en nl HP:0006268 IAO:0000115 Intermittently increased size of the spleen Intermittently increased size of the spleen NOT_TRANSLATED -en nl HP:0006270 rdfs:label Hypoplastic spleen Hypoplastische milt CANDIDATE -en nl HP:0006270 IAO:0000115 Underdevelopment of the spleen Underdevelopment of the spleen NOT_TRANSLATED -en nl HP:0006273 rdfs:label Pancreatic lymphangiectasis Pancreatische lymfangiectasieën CANDIDATE -en nl HP:0006273 IAO:0000115 The presence of lymphangiectasis in the pancreas The presence of lymphangiectasis in the pancreas NOT_TRANSLATED -en nl HP:0006274 rdfs:label Reduced pancreatic beta cells Verminderde pancreatische beta cellen CANDIDATE -en nl HP:0006274 IAO:0000115 Reduced number of beta cells in the pancreatic islets of Langerhans Reduced number of beta cells in the pancreatic islets of Langerhans NOT_TRANSLATED -en nl HP:0006276 rdfs:label Hyperechogenic pancreas Hyperechogene pancreas CANDIDATE -en nl HP:0006277 rdfs:label Pancreatic hyperplasia Pancreatische hyperplasie CANDIDATE -en nl HP:0006277 IAO:0000115 Hyperplasia of the pancreas Hyperplasia of the pancreas NOT_TRANSLATED -en nl HP:0006278 rdfs:label Ectopic pancreatic tissue Ectopisch pancreatisch weefsel CANDIDATE -en nl HP:0006278 IAO:0000115 The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut NOT_TRANSLATED -en nl HP:0006279 rdfs:label Beta-cell dysfunction Beta-cel dysfunctie CANDIDATE -en nl HP:0006280 rdfs:label Chronic pancreatitis Chronische pancreatitis CANDIDATE -en nl HP:0006280 IAO:0000115 A chronic form of pancreatitis A chronic form of pancreatitis NOT_TRANSLATED -en nl HP:0006282 rdfs:label Generalized hypoplasia of dental enamel Gegeneraliseerde hypoplasie van het glazuur van de tand CANDIDATE -en nl HP:0006282 IAO:0000115 A generalized form of developmental hypoplasia of the dental enamel A generalized form of developmental hypoplasia of the dental enamel NOT_TRANSLATED -en nl HP:0006283 rdfs:label Multiple unerupted teeth Multipele niet-doorgekomen tanden CANDIDATE -en nl HP:0006283 IAO:0000115 The presence of multiple embedded tooth germs which have failed to erupt The presence of multiple embedded tooth germs which have failed to erupt NOT_TRANSLATED -en nl HP:0006285 rdfs:label Enamel hypomineralization Hypomineralizatie van glazuur CANDIDATE -en nl HP:0006285 IAO:0000115 A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect NOT_TRANSLATED -en nl HP:0006286 rdfs:label Yellow-brown discoloration of the teeth Geel-bruine verkleuring van de tanden CANDIDATE -en nl HP:0006288 rdfs:label Advanced eruption of teeth Gevorderd doorkomen van tanden CANDIDATE -en nl HP:0006288 IAO:0000115 Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age NOT_TRANSLATED -en nl HP:0006289 rdfs:label Agenesis of central incisor Agenesie van centrale snijtand CANDIDATE -en nl HP:0006289 IAO:0000115 Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor NOT_TRANSLATED -en nl HP:0006290 rdfs:label Discolored lateral incisors Verkleurde laterale snijtanden CANDIDATE -en nl HP:0006290 IAO:0000115 The presence of discolored lateral incisors The presence of discolored lateral incisors NOT_TRANSLATED -en nl HP:0006291 rdfs:label Marked delay in eruption of permanent teeth Duidelijk vertraagd doorkomen van permanente tanden CANDIDATE -en nl HP:0006292 rdfs:label Abnormality of dental eruption Afwijking van doorkomen van tanden CANDIDATE -en nl HP:0006292 IAO:0000115 An abnormality of tooth eruption An abnormality of tooth eruption NOT_TRANSLATED -en nl HP:0006293 rdfs:label Agenesis of maxillary central incisor Agenesie van maxillaire centrale snijtand CANDIDATE -en nl HP:0006293 IAO:0000115 Agenesis of upper secondary incisor or of upper central primary incisor Agenesis of upper secondary incisor or of upper central primary incisor NOT_TRANSLATED -en nl HP:0006297 rdfs:label Enamel hypoplasia Hypoplasie van het glazuur van de tand CANDIDATE -en nl HP:0006297 IAO:0000115 Developmental hypoplasia of the dental enamel Developmental hypoplasia of the dental enamel NOT_TRANSLATED -en nl HP:0006298 rdfs:label Prolonged bleeding after dental extraction Langdurig bloeden na tandheelkundige extractie CANDIDATE -en nl HP:0006298 IAO:0000115 Prolonged bleeding post dental extraction sufficient to require medical intervention Prolonged bleeding post dental extraction sufficient to require medical intervention NOT_TRANSLATED -en nl HP:0006302 rdfs:label Dagger-shaped pulp calcifications Dagger-shaped pulp calcifications NOT_TRANSLATED -en nl HP:0006302 IAO:0000115 Dagger-shaped calcifications in the dental pulp Dagger-shaped calcifications in the dental pulp NOT_TRANSLATED -en nl HP:0006304 rdfs:label Widely-spaced incisors Ver uit elkaar staande snijtanden CANDIDATE -en nl HP:0006308 rdfs:label Atrophy of alveolar ridges Atrofie van de alveolaire ruggen CANDIDATE -en nl HP:0006311 rdfs:label Generalized microdontia Gegeneraliseerde microdontie CANDIDATE -en nl HP:0006311 IAO:0000115 A generalized form of microdontia A generalized form of microdontia NOT_TRANSLATED -en nl HP:0006313 rdfs:label Widely spaced primary teeth Ver uit elkaar staande primaire tanden CANDIDATE -en nl HP:0006313 IAO:0000115 Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia NOT_TRANSLATED -en nl HP:0006315 rdfs:label Solitary median maxillary central incisor Enkele mediane maxillaire snijtand CANDIDATE -en nl HP:0006315 IAO:0000115 A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors NOT_TRANSLATED -en nl HP:0006316 rdfs:label Irregularly spaced teeth Onregelmatig uit elkaar staande tanden CANDIDATE -en nl HP:0006316 IAO:0000115 Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth NOT_TRANSLATED -en nl HP:0006321 rdfs:label Multiple non-erupting secondary teeth Multipele niet-doorgekomen secundaire tanden CANDIDATE -en nl HP:0006323 rdfs:label Premature loss of primary teeth Premature verlies van primaire tanden CANDIDATE -en nl HP:0006323 IAO:0000115 Loss of the primary (also known as deciduous) teeth before the usual age Loss of the primary (also known as deciduous) teeth before the usual age NOT_TRANSLATED -en nl HP:0006326 rdfs:label Buried teeth encased in mucopolysaccharide Begraven tanden ingekapseld in mucopolysaccharide CANDIDATE -en nl HP:0006329 rdfs:label Alveolar process hypoplasia Processus alveolaris hypoplasie CANDIDATE -en nl HP:0006329 IAO:0000115 Underdevelopment of the alveolar process (also known as alveolar bone) Underdevelopment of the alveolar process (also known as alveolar bone) NOT_TRANSLATED -en nl HP:0006330 rdfs:label Rotated maxillary central incisors Gedraaide maxillaire centrale snijtanden CANDIDATE -en nl HP:0006332 rdfs:label Supernumerary maxillary incisor Extra maxillaire snijtand CANDIDATE -en nl HP:0006332 IAO:0000115 The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor NOT_TRANSLATED -en nl HP:0006333 rdfs:label Crowded maxillary incisors Overvolle maxillaire snijtanden CANDIDATE -en nl HP:0006333 IAO:0000115 A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor NOT_TRANSLATED -en nl HP:0006334 rdfs:label Hypoplasia of the primary teeth Hypoplasie van de primaire tanden CANDIDATE -en nl HP:0006334 IAO:0000115 Developmental hypoplasia of the primary teeth Developmental hypoplasia of the primary teeth NOT_TRANSLATED -en nl HP:0006335 rdfs:label Persistence of primary teeth Persistentie van primaire tanden CANDIDATE -en nl HP:0006335 IAO:0000115 Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth NOT_TRANSLATED -en nl HP:0006336 rdfs:label Short dental root Korte tandheelkundige wortels CANDIDATE -en nl HP:0006336 IAO:0000115 Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length NOT_TRANSLATED -en nl HP:0006337 rdfs:label Premature eruption of permanent teeth Prematuur doorkomen van permanente tanden CANDIDATE -en nl HP:0006337 IAO:0000115 Premature tooth eruption of the permanent dentition Premature tooth eruption of the permanent dentition NOT_TRANSLATED -en nl HP:0006338 rdfs:label Malformation of mandibular premolar Misvorming van mandibulaire premolaar CANDIDATE -en nl HP:0006338 IAO:0000115 An abnormality of the morphology of secondary premolar tooth An abnormality of the morphology of secondary premolar tooth NOT_TRANSLATED -en nl HP:0006339 rdfs:label Conical mandibular incisor Conische mandibulaire snijtand CANDIDATE -en nl HP:0006339 IAO:0000115 An abnormal conical morphology of the primary or permanent mandibular incisors An abnormal conical morphology of the primary or permanent mandibular incisors NOT_TRANSLATED -en nl HP:0006342 rdfs:label Peg-shaped maxillary lateral incisors Pin-vormige maxillaire laterale snijtanden CANDIDATE -en nl HP:0006342 IAO:0000115 A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter NOT_TRANSLATED -en nl HP:0006344 rdfs:label Abnormality of primary molar morphology Afwijking van primaire molaire morfologie CANDIDATE -en nl HP:0006344 IAO:0000115 An abnormality of morphology of primary molar An abnormality of morphology of primary molar NOT_TRANSLATED -en nl HP:0006346 rdfs:label Screwdriver-shaped incisors Schroevendraaier-vormige snijtanden CANDIDATE -en nl HP:0006346 IAO:0000115 An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape NOT_TRANSLATED -en nl HP:0006347 rdfs:label Microdontia of primary teeth Microdontie van primaire tanden CANDIDATE -en nl HP:0006347 IAO:0000115 Decreased size of the primary teeth Decreased size of the primary teeth NOT_TRANSLATED -en nl HP:0006349 rdfs:label Agenesis of permanent teeth Agenesie van permanente tanden CANDIDATE -en nl HP:0006349 IAO:0000115 A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth NOT_TRANSLATED -en nl HP:0006350 rdfs:label Pulp obliteration Vernietiging van de pulpakamer CANDIDATE -en nl HP:0006350 IAO:0000115 Mineralized substance filling the entire dental pulp space Mineralized substance filling the entire dental pulp space NOT_TRANSLATED -en nl HP:0006352 rdfs:label Failure of eruption of permanent teeth Falen van het doorkomen van permanente tanden CANDIDATE -en nl HP:0006352 IAO:0000115 Lack of tooth eruption of the secondary dentition Lack of tooth eruption of the secondary dentition NOT_TRANSLATED -en nl HP:0006353 rdfs:label Hypoplasia of the tooth germ Hypoplasie van de tandkiem CANDIDATE -en nl HP:0006353 IAO:0000115 Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth NOT_TRANSLATED -en nl HP:0006355 rdfs:label Agenesis of mandibular central incisor Agenesie van mandibulaire centrale snijtand CANDIDATE -en nl HP:0006355 IAO:0000115 Agenesis of lower secondary incisor or lower primary incisor Agenesis of lower secondary incisor or lower primary incisor NOT_TRANSLATED -en nl HP:0006357 rdfs:label Premature loss of permanent teeth Prematuur verlies van permanente tanden CANDIDATE -en nl HP:0006357 IAO:0000115 Premature loss of the permanent teeth Premature loss of the permanent teeth NOT_TRANSLATED -en nl HP:0006358 rdfs:label Shovel-shaped maxillary central incisors Schop-vormige maxillaire centrale snijtanden CANDIDATE -en nl HP:0006358 IAO:0000115 A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces NOT_TRANSLATED -en nl HP:0006361 rdfs:label Irregular femoral epiphysis Irregulaire femorale epifyse CANDIDATE -en nl HP:0006362 rdfs:label Varus deformity of humeral neck Varus deformiteit van nek van humerus CANDIDATE -en nl HP:0006366 rdfs:label Adductor longus contractures Adductor longus contracturen CANDIDATE -en nl HP:0006367 rdfs:label Crumpled long bones Verfrommelde lange beenderen CANDIDATE -en nl HP:0006367 IAO:0000115 An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta NOT_TRANSLATED -en nl HP:0006368 rdfs:label Forearm reduction defects Reductiedefecten van onderarm CANDIDATE -en nl HP:0006369 rdfs:label Irregular patellae Irregulaire patellae CANDIDATE -en nl HP:0006369 IAO:0000115 An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour NOT_TRANSLATED -en nl HP:0006370 rdfs:label Distal ulnar epiphyseal stippling Distale ulnaire epifysaire vlekkerige calcificaties CANDIDATE -en nl HP:0006370 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna NOT_TRANSLATED -en nl HP:0006371 rdfs:label Broad long bone diaphyses Brede diafysen van lange botten CANDIDATE -en nl HP:0006371 IAO:0000115 Increased width of the diaphysis of long bones Increased width of the diaphysis of long bones NOT_TRANSLATED -en nl HP:0006375 rdfs:label Dumbbell-shaped femur Halter-vormig femur CANDIDATE -en nl HP:0006375 IAO:0000115 The femur is shortened and displays flaring (widening) of the metaphyses The femur is shortened and displays flaring (widening) of the metaphyses NOT_TRANSLATED -en nl HP:0006376 rdfs:label Limited elbow flexion Verminderde elleboogflexie CANDIDATE -en nl HP:0006378 rdfs:label Osteolysis of patellae Osteolyse van patellae CANDIDATE -en nl HP:0006379 rdfs:label Proximal tibial hypoplasia Proximale hypoplasie van de tibia CANDIDATE -en nl HP:0006380 rdfs:label Knee flexion contracture Knie flexiecontractuur CANDIDATE -en nl HP:0006380 IAO:0000115 A bent (flexed) knee joint that cannot be straightened actively or passively A bent (flexed) knee joint that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0006381 rdfs:label Rudimentary fibula Rudimentaire fibula CANDIDATE -en nl HP:0006381 IAO:0000115 Absent or nearly absent fibula. (Does not include aplastic) Absent or nearly absent fibula. (Does not include aplastic) NOT_TRANSLATED -en nl HP:0006383 rdfs:label Progressive bowing of long bones Progressieve bowing van lange beenderen CANDIDATE -en nl HP:0006383 IAO:0000115 Progressive bending or abnormal curvature of a long bone Progressive bending or abnormal curvature of a long bone NOT_TRANSLATED -en nl HP:0006384 rdfs:label Club-shaped distal femur Club-shaped distal femur NOT_TRANSLATED -en nl HP:0006384 IAO:0000115 An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis NOT_TRANSLATED -en nl HP:0006385 rdfs:label Short lower limbs Korte onderste ledematen CANDIDATE -en nl HP:0006385 IAO:0000115 Shortening of the legs related to developmental hypoplasia of the bones of the leg Shortening of the legs related to developmental hypoplasia of the bones of the leg NOT_TRANSLATED -en nl HP:0006386 rdfs:label Hypoplastic distal radial epiphyses Hypoplastische distale epifysen van radius CANDIDATE -en nl HP:0006386 IAO:0000115 Underdevelopment of the distal epiphysis of the radius Underdevelopment of the distal epiphysis of the radius NOT_TRANSLATED -en nl HP:0006387 rdfs:label Wide distal femoral metaphysis Wijde distale metafyse van femur CANDIDATE -en nl HP:0006387 IAO:0000115 Increased width of the distal part of the shaft (metaphysis) of the femur Increased width of the distal part of the shaft (metaphysis) of the femur NOT_TRANSLATED -en nl HP:0006389 rdfs:label Limited knee flexion Beperkte knie flexie CANDIDATE -en nl HP:0006389 IAO:0000115 Reduced ability to flex (bend) the knee joint Reduced ability to flex (bend) the knee joint NOT_TRANSLATED -en nl HP:0006390 rdfs:label Anterior tibial bowing Buiging van anterieure tibia CANDIDATE -en nl HP:0006390 IAO:0000115 An abnormal anterior bending or curvature of the tibia An abnormal anterior bending or curvature of the tibia NOT_TRANSLATED -en nl HP:0006391 rdfs:label Overtubulated long bones Overtubulated long bones NOT_TRANSLATED -en nl HP:0006391 IAO:0000115 Overconstriction, or narrowness of the diaphysis and metaphysis of long bones Overconstriction, or narrowness of the diaphysis and metaphysis of long bones NOT_TRANSLATED -en nl HP:0006392 rdfs:label Increased density of long bones Verhoogde dichtheid van lange botten CANDIDATE -en nl HP:0006392 IAO:0000115 An abnormal increase in the bone density of the long bones An abnormal increase in the bone density of the long bones NOT_TRANSLATED -en nl HP:0006394 rdfs:label Limited pronation/supination of forearm Vermindere pronatie/supinatie van onderarm CANDIDATE -en nl HP:0006394 IAO:0000115 A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation) A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation) NOT_TRANSLATED -en nl HP:0006397 rdfs:label Lateral displacement of patellae Laterale verplaatsing van de patellae CANDIDATE -en nl HP:0006398 rdfs:label Flat distal femoral epiphysis Vlakke distale epifyse van femur CANDIDATE -en nl HP:0006398 IAO:0000115 An abnormal flattening of the distal epiphysis of femur An abnormal flattening of the distal epiphysis of femur NOT_TRANSLATED -en nl HP:0006400 rdfs:label Absent knee epiphyses Afwezige epifysen van knie CANDIDATE -en nl HP:0006402 rdfs:label Distal shortening of limbs Distale verkorting van ledematen CANDIDATE -en nl HP:0006406 rdfs:label Club-shaped proximal femur Club-shaped proximal femur NOT_TRANSLATED -en nl HP:0006406 IAO:0000115 An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis NOT_TRANSLATED -en nl HP:0006407 rdfs:label Irregular distal femoral epiphysis Irregulaire distale epifyse van femur CANDIDATE -en nl HP:0006407 IAO:0000115 Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular NOT_TRANSLATED -en nl HP:0006408 rdfs:label Distal tapering femur Distal tapering femur NOT_TRANSLATED -en nl HP:0006409 rdfs:label Progressive leg bowing Progressieve bowing van been CANDIDATE -en nl HP:0006409 IAO:0000115 Progressive bending or abnormal curvature of the leg Progressive bending or abnormal curvature of the leg NOT_TRANSLATED -en nl HP:0006413 rdfs:label Broad tibial metaphyses Brede metafysen van tibia CANDIDATE -en nl HP:0006414 rdfs:label Distal tibial bowing Bowing van distale tibia CANDIDATE -en nl HP:0006414 IAO:0000115 A bending or abnormal curvature of the distal portion of the tibia A bending or abnormal curvature of the distal portion of the tibia NOT_TRANSLATED -en nl HP:0006415 rdfs:label Cortically dense long tubular bones Corticaal dichte lange tubulaire botten CANDIDATE -en nl HP:0006415 IAO:0000115 Increased density of the compact bone of long bone Increased density of the compact bone of long bone NOT_TRANSLATED -en nl HP:0006417 rdfs:label Broad femoral metaphyses Brede metafysen van femur CANDIDATE -en nl HP:0006420 rdfs:label Asymmetric radial dysplasia Assymetrische radius dysplasie CANDIDATE -en nl HP:0006420 IAO:0000115 The presence of asymmetric developmental dysplasia of the radius The presence of asymmetric developmental dysplasia of the radius NOT_TRANSLATED -en nl HP:0006423 rdfs:label Peg-like central prominence of distal tibial metaphyses Peg-like central prominence of distal tibial metaphyses NOT_TRANSLATED -en nl HP:0006424 rdfs:label Elongated radius Verlengde radius CANDIDATE -en nl HP:0006424 IAO:0000115 Increased length of the radius Increased length of the radius NOT_TRANSLATED -en nl HP:0006426 rdfs:label Rudimentary to absent tibiae Rudimentaire tot afwezige tibiae CANDIDATE -en nl HP:0006429 rdfs:label Broad femoral neck Breed collum CANDIDATE -en nl HP:0006429 IAO:0000115 An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED -en nl HP:0006431 rdfs:label Proximal femoral metaphyseal abnormality Proximale femorale metafysaire afwijking CANDIDATE -en nl HP:0006431 IAO:0000115 An anomaly of the metaphysis of the proximal femur (close to the hip) An anomaly of the metaphysis of the proximal femur (close to the hip) NOT_TRANSLATED -en nl HP:0006432 rdfs:label Trapezoidal distal femoral condyles Trapezium-vormige distale femurcondylen CANDIDATE -en nl HP:0006433 rdfs:label Radial dysplasia Dysplastische radii CANDIDATE -en nl HP:0006433 IAO:0000115 Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia NOT_TRANSLATED -en nl HP:0006434 rdfs:label Hypoplasia of proximal radius Hypoplasie van proximale radius CANDIDATE -en nl HP:0006434 IAO:0000115 Proximal radial shortening owing to a congenital defect of development Proximal radial shortening owing to a congenital defect of development NOT_TRANSLATED -en nl HP:0006437 rdfs:label Disproportionate prominence of the femoral medial condyle Disproportionele prominentie van de mediale femurcondyl CANDIDATE -en nl HP:0006438 rdfs:label Enlargement of the distal femoral epiphysis Vergroting van de distale epifyse van femur CANDIDATE -en nl HP:0006438 IAO:0000115 An abnormal enlargement of the distal epiphysis of the femur An abnormal enlargement of the distal epiphysis of the femur NOT_TRANSLATED -en nl HP:0006439 rdfs:label Radioulnar dislocation Radio-ulnaire dislocatie CANDIDATE -en nl HP:0006440 rdfs:label Increased density of long bone diaphyses Verhoogde dichtheid diafysen van lange botten CANDIDATE -en nl HP:0006441 rdfs:label Lateral humeral condyle aplasia Laterale humeruscondyl aplasie CANDIDATE -en nl HP:0006442 rdfs:label Hypoplasia of proximal fibula Hypoplasie van proximale fibula CANDIDATE -en nl HP:0006442 IAO:0000115 Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee NOT_TRANSLATED -en nl HP:0006443 rdfs:label Patellar aplasia Patellaire aplasie CANDIDATE -en nl HP:0006443 IAO:0000115 Absence of the patella Absence of the patella NOT_TRANSLATED -en nl HP:0006446 rdfs:label Dysplastic patella Dysplastische patella CANDIDATE -en nl HP:0006449 rdfs:label Distal radial epiphyseal osteolysis Osteolyse van distale epifyse van radius CANDIDATE -en nl HP:0006450 rdfs:label Multicentric ossification of proximal femoral epiphyses Multicentrische ossificatie van proximale epifysen van femur CANDIDATE -en nl HP:0006453 rdfs:label Lateral displacement of the femoral head Laterale verplaatsing van de femurkop CANDIDATE -en nl HP:0006453 IAO:0000115 A developmental anomaly with lateral displacement of the femoral head A developmental anomaly with lateral displacement of the femoral head NOT_TRANSLATED -en nl HP:0006454 rdfs:label Delayed patellar ossification Vertraagde patellaire ossificatie CANDIDATE -en nl HP:0006454 IAO:0000115 Formation of bone in the patella later than normal Formation of bone in the patella later than normal NOT_TRANSLATED -en nl HP:0006456 rdfs:label Irregular proximal tibial epiphyses Irregulaire proximale tibia epifysen CANDIDATE -en nl HP:0006456 IAO:0000115 Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular NOT_TRANSLATED -en nl HP:0006459 rdfs:label Dorsal subluxation of ulna Dorsale subluxatie van ulna CANDIDATE -en nl HP:0006459 IAO:0000115 Partial dislocation of the ulna in the dorsal direction Partial dislocation of the ulna in the dorsal direction NOT_TRANSLATED -en nl HP:0006460 rdfs:label Increased laxity of ankles Verhoogde losheid van enkels CANDIDATE -en nl HP:0006461 rdfs:label Proximal femoral epiphysiolysis Epifysiolyse proximale femur CANDIDATE -en nl HP:0006461 IAO:0000115 Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt NOT_TRANSLATED -en nl HP:0006462 rdfs:label Generalized bone demineralization Gegeneraliseerde bot demineralisatie CANDIDATE -en nl HP:0006462 IAO:0000115 A generalized decrease in bone mineral density A generalized decrease in bone mineral density NOT_TRANSLATED -en nl HP:0006463 rdfs:label Rickets of the lower limbs Rachitis van de onderste ledematen CANDIDATE -en nl HP:0006465 rdfs:label Periosteal thickening of long tubular bones Periosteale verdikking van lange buisvormige botten CANDIDATE -en nl HP:0006465 IAO:0000115 Thickening of the periosteum of long bone Thickening of the periosteum of long bone NOT_TRANSLATED -en nl HP:0006466 rdfs:label Ankle flexion contracture Enkel contractuur CANDIDATE -en nl HP:0006466 IAO:0000115 A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle NOT_TRANSLATED -en nl HP:0006467 rdfs:label Limited shoulder movement Beperkte schouder beweging CANDIDATE -en nl HP:0006467 IAO:0000115 A limitation of the range of movement of the shoulder joint A limitation of the range of movement of the shoulder joint NOT_TRANSLATED -en nl HP:0006470 rdfs:label Thin long bone diaphyses Dun lang bot diaphyses CANDIDATE -en nl HP:0006470 IAO:0000115 Decreased width of the diaphysis of long bones Decreased width of the diaphysis of long bones NOT_TRANSLATED -en nl HP:0006471 rdfs:label Fixed elbow flexion Vaste elleboog flexie CANDIDATE -en nl HP:0006473 rdfs:label Anterior bowing of long bones Anterieure bowing van lange beenderen CANDIDATE -en nl HP:0006473 IAO:0000115 An abnormal anterior curvature of a long bone An abnormal anterior curvature of a long bone NOT_TRANSLATED -en nl HP:0006476 rdfs:label Abnormality of the pancreatic islet cells Afwijking van de eilandjes van Langerhans CANDIDATE -en nl HP:0006476 IAO:0000115 An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin NOT_TRANSLATED -en nl HP:0006477 rdfs:label Abnormality of the alveolar ridges Afwijking van de alveolaire ruggen CANDIDATE -en nl HP:0006477 IAO:0000115 Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth NOT_TRANSLATED -en nl HP:0006479 rdfs:label Abnormal dental pulp morphology Afwijking van het tandmerg CANDIDATE -en nl HP:0006479 IAO:0000115 An abnormality of the dental pulp An abnormality of the dental pulp NOT_TRANSLATED -en nl HP:0006480 rdfs:label Premature loss of teeth Premature verlies van tanden CANDIDATE -en nl HP:0006480 IAO:0000115 Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal NOT_TRANSLATED -en nl HP:0006481 rdfs:label Abnormality of primary teeth Afwijking van primaire tanden CANDIDATE -en nl HP:0006481 IAO:0000115 Any abnormality of the primary tooth Any abnormality of the primary tooth NOT_TRANSLATED -en nl HP:0006482 rdfs:label Abnormality of dental morphology Afwijking van tandheelkundige morfologie CANDIDATE -en nl HP:0006482 IAO:0000115 An abnormality of the morphology of the tooth An abnormality of the morphology of the tooth NOT_TRANSLATED -en nl HP:0006483 rdfs:label Abnormal number of teeth Abnormaal aantal tanden CANDIDATE -en nl HP:0006483 IAO:0000115 The presence of an altered number of of teeth The presence of an altered number of of teeth NOT_TRANSLATED -en nl HP:0006485 rdfs:label Agenesis of incisor Agenesie van snijtand CANDIDATE -en nl HP:0006485 IAO:0000115 Agenesis of incisor Agenesis of incisor NOT_TRANSLATED -en nl HP:0006486 rdfs:label Abnormal dental root morphology Afwijking van de tandheelkundige wortel CANDIDATE -en nl HP:0006486 IAO:0000115 An abnormality of the dental root An abnormality of the dental root NOT_TRANSLATED -en nl HP:0006487 rdfs:label Bowing of the long bones Bowing van de lange beenderen CANDIDATE -en nl HP:0006487 IAO:0000115 A bending or abnormal curvature of a long bone A bending or abnormal curvature of a long bone NOT_TRANSLATED -en nl HP:0006488 rdfs:label Bowing of the arm Bowing van de arm CANDIDATE -en nl HP:0006488 IAO:0000115 A bending or abnormal curvature affecting a long bone of the arm A bending or abnormal curvature affecting a long bone of the arm NOT_TRANSLATED -en nl HP:0006489 rdfs:label Abnormal femoral metaphysis morphology Afwijking van de femorale metafyse CANDIDATE -en nl HP:0006489 IAO:0000115 An anomaly of the femoral metaphysis An anomaly of the femoral metaphysis NOT_TRANSLATED -en nl HP:0006490 rdfs:label Abnormal lower-limb metaphysis morphology Afwijking van metafysen van onderste ledematen CANDIDATE -en nl HP:0006491 rdfs:label Abnormal tibial metaphysis morphology Afwijking van de metafyse van de tibia CANDIDATE -en nl HP:0006492 rdfs:label Aplasia/Hypoplasia of the fibula Aplasia/hypoplasie van de fibula CANDIDATE -en nl HP:0006492 IAO:0000115 Absence or underdevelopment of the fibula Absence or underdevelopment of the fibula NOT_TRANSLATED -en nl HP:0006493 rdfs:label Aplasia/hypoplasia involving bones of the lower limbs Aplasia/hypoplasie waarbij de botten van de onderste ledematen betrokken zijn CANDIDATE -en nl HP:0006493 IAO:0000115 Absence (due to failure to form) or underdevelopment of the bones of the lower limbs Absence (due to failure to form) or underdevelopment of the bones of the lower limbs NOT_TRANSLATED -en nl HP:0006494 rdfs:label Aplasia/Hypoplasia involving bones of the feet Aplasia/hypoplasie waarbij botten van de voeten betrokken zijn CANDIDATE -en nl HP:0006495 rdfs:label Aplasia/Hypoplasia of the ulna Aplasia/hypoplasie van de ulna CANDIDATE -en nl HP:0006495 IAO:0000115 Absence or underdevelopment of the ulna Absence or underdevelopment of the ulna NOT_TRANSLATED -en nl HP:0006496 rdfs:label Aplasia/hypoplasia involving bones of the upper limbs Aplasia/hypoplasie waarbij de beenderen van de bovenste ledematen betrokken zijn CANDIDATE -en nl HP:0006496 IAO:0000115 Absence (due to failure to form) or underdevelopment of the bones of the upper limbs Absence (due to failure to form) or underdevelopment of the bones of the upper limbs NOT_TRANSLATED -en nl HP:0006498 rdfs:label Aplasia/Hypoplasia of the patella Aplasia/hypoplasie van de patella CANDIDATE -en nl HP:0006498 IAO:0000115 Absence or underdevelopment of the patella Absence or underdevelopment of the patella NOT_TRANSLATED -en nl HP:0006499 rdfs:label Abnormality of femoral epiphysis Afwijking van femorale epifyse CANDIDATE -en nl HP:0006499 IAO:0000115 An anomaly of a growth plate of a femur An anomaly of a growth plate of a femur NOT_TRANSLATED -en nl HP:0006500 rdfs:label Abnormality of lower limb epiphysis morphology Afwijking van morfologie van de epifyse van onderste ledematen CANDIDATE -en nl HP:0006500 IAO:0000115 An anomaly of one or more epiphyses of one or both legs An anomaly of one or more epiphyses of one or both legs NOT_TRANSLATED -en nl HP:0006501 rdfs:label Aplasia/Hypoplasia of the radius Aplasia/hypoplasie van de radius CANDIDATE -en nl HP:0006501 IAO:0000115 A small/hypoplastic or absent/aplastic radius A small/hypoplastic or absent/aplastic radius NOT_TRANSLATED -en nl HP:0006502 rdfs:label Aplasia/Hypoplasia involving the carpal bones Aplasia/hypoplasie waarbij de carpale botten betrokken zijn CANDIDATE -en nl HP:0006502 IAO:0000115 Absence or underdevelopment of the carpal bones Absence or underdevelopment of the carpal bones NOT_TRANSLATED -en nl HP:0006503 rdfs:label Aplasia/hypoplasia involving forearm bones Aplasia/hypoplasie waarbij botten van onderarm betrokken zijn CANDIDATE -en nl HP:0006503 IAO:0000115 Absence (due to failure to form) or underdevelopment of one or more forearm bones Absence (due to failure to form) or underdevelopment of one or more forearm bones NOT_TRANSLATED -en nl HP:0006505 rdfs:label Abnormal limb epiphysis morphology Afwijking van morfologie van epifyse van ledemaat CANDIDATE -en nl HP:0006505 IAO:0000115 An anomaly of one or more epiphyses of a limb An anomaly of one or more epiphyses of a limb NOT_TRANSLATED -en nl HP:0006507 rdfs:label Aplasia/hypoplasia of the humerus Aplasia/hypoplasie van de humerus CANDIDATE -en nl HP:0006507 IAO:0000115 Absence (due to failure to form) or underdevelopment of the humerus Absence (due to failure to form) or underdevelopment of the humerus NOT_TRANSLATED -en nl HP:0006508 rdfs:label Abnormality of tibial epiphyses Afwijking van epifysen van de tibia CANDIDATE -en nl HP:0006509 rdfs:label Diverticulosis of trachea Diverticulosis van de trachea CANDIDATE -en nl HP:0006509 IAO:0000115 Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical) Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical) NOT_TRANSLATED -en nl HP:0006510 rdfs:label Chronic pulmonary obstruction Chronische obstructieve longziekte CANDIDATE -en nl HP:0006510 IAO:0000115 An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities NOT_TRANSLATED -en nl HP:0006511 rdfs:label Laryngeal stridor Laryngeale stridor CANDIDATE -en nl HP:0006511 IAO:0000115 An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat NOT_TRANSLATED -en nl HP:0006514 rdfs:label Intraalveolar nodular calcifications Intra-alveolaire nodulaire calcificaties CANDIDATE -en nl HP:0006515 rdfs:label Interstitial pneumonitis Interstitiële pneumonitis CANDIDATE -en nl HP:0006516 rdfs:label Hypersensitivity pneumonitis Hypersensitiviteits pneumonitis CANDIDATE -en nl HP:0006516 IAO:0000115 Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010) Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010) NOT_TRANSLATED -en nl HP:0006517 rdfs:label Intraalveolar phospholipid accumulation Alveolaire proteïnose CANDIDATE -en nl HP:0006517 IAO:0000115 Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis NOT_TRANSLATED -en nl HP:0006518 rdfs:label Pulmonary venous occlusion Pulmonale veneuze occlusie CANDIDATE -en nl HP:0006518 IAO:0000115 Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition NOT_TRANSLATED -en nl HP:0006519 rdfs:label Alveolar cell carcinoma Alveolaire-celcarcinoom CANDIDATE -en nl HP:0006519 IAO:0000115 Adenocarcinoma of the Bronchus Adenocarcinoma of the Bronchus NOT_TRANSLATED -en nl HP:0006520 rdfs:label Progressive pulmonary function impairment Progressieve pulmonale functie vermindering CANDIDATE -en nl HP:0006521 rdfs:label Pulmonary lymphangiectasia Pulmonale lymfangiëctasieën CANDIDATE -en nl HP:0006521 IAO:0000115 Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid NOT_TRANSLATED -en nl HP:0006522 rdfs:label Repeated pneumothoraces Herhaalde pneumothoraces CANDIDATE -en nl HP:0006524 rdfs:label Tracheobronchial leiomyomatosis Tracheobronchiale leiomyomatose CANDIDATE -en nl HP:0006527 rdfs:label Lymphocytic interstitial pneumonia Lymfoïde interstitiële pneumonie CANDIDATE -en nl HP:0006527 IAO:0000115 Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa NOT_TRANSLATED -en nl HP:0006528 rdfs:label Chronic lung disease Chronische longziekte CANDIDATE -en nl HP:0006528 IAO:0000115 According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities NOT_TRANSLATED -en nl HP:0006529 rdfs:label Abnormal pulmonary lymphatics Afwijkende pulmonale lymfevaten CANDIDATE -en nl HP:0006529 IAO:0000115 An abnormality of the pulmonary lymphatic chain An abnormality of the pulmonary lymphatic chain NOT_TRANSLATED -en nl HP:0006530 rdfs:label Abnormal pulmonary interstitial morphology Interstitiële pulmonale afwijking CANDIDATE -en nl HP:0006530 IAO:0000115 Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis NOT_TRANSLATED -en nl HP:0006531 rdfs:label Pleural lymphangiectasia Pleurale lymfangiëctasieën CANDIDATE -en nl HP:0006532 rdfs:label Recurrent pneumonia Recidiverende pneumonieën CANDIDATE -en nl HP:0006532 IAO:0000115 An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia NOT_TRANSLATED -en nl HP:0006533 rdfs:label Bronchodysplasia Bronchodysplasie CANDIDATE -en nl HP:0006535 rdfs:label Recurrent intrapulmonary hemorrhage Recidverende intrapulmonale bloeding CANDIDATE -en nl HP:0006535 IAO:0000115 A recurrent hemorrhage occurring within the lung A recurrent hemorrhage occurring within the lung NOT_TRANSLATED -en nl HP:0006536 rdfs:label Airway obstruction Obstructieve longziekte CANDIDATE -en nl HP:0006536 IAO:0000115 Obstruction of conducting airways of the lung Obstruction of conducting airways of the lung NOT_TRANSLATED -en nl HP:0006538 rdfs:label Recurrent bronchopulmonary infections Recidiverende bronchopulmonale infecties CANDIDATE -en nl HP:0006538 IAO:0000115 An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections NOT_TRANSLATED -en nl HP:0006539 rdfs:label Bronchial cartilage hypoplasia Bronchiaal kraakbeen hypoplasie CANDIDATE -en nl HP:0006543 rdfs:label Cardiorespiratory arrest Hart- en ademstilstand CANDIDATE -en nl HP:0006544 rdfs:label Extrapulmonary sequestrum Extrapulmonaal sequester CANDIDATE -en nl HP:0006544 IAO:0000115 A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree NOT_TRANSLATED -en nl HP:0006548 rdfs:label Pulmonary arteriovenous malformation Pulmonale arterioveneuze malformatie CANDIDATE -en nl HP:0006548 IAO:0000115 Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins NOT_TRANSLATED -en nl HP:0006549 rdfs:label Unilateral primary pulmonary dysgenesis Unilaterale primaire pulmonale dysgenesie CANDIDATE -en nl HP:0006552 rdfs:label Fibrocystic lung disease Fibrocystische longziekte CANDIDATE -en nl HP:0006554 rdfs:label Acute hepatic failure Acuut leverfalen CANDIDATE -en nl HP:0006554 IAO:0000115 Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver NOT_TRANSLATED -en nl HP:0006555 rdfs:label Diffuse hepatic steatosis Diffuse hepatische steatose CANDIDATE -en nl HP:0006555 IAO:0000115 A diffuse form of hepatic steatosis A diffuse form of hepatic steatosis NOT_TRANSLATED -en nl HP:0006557 rdfs:label Polycystic liver disease Polycysteuze leverziekte CANDIDATE -en nl HP:0006558 rdfs:label Decreased mitochondrial complex III activity in liver tissue Verminderde mitochondriaal complex III activiteit in leverweefsel CANDIDATE -en nl HP:0006558 IAO:0000115 Decreased activity of complex III of the mitochondrion in the liver Decreased activity of complex III of the mitochondrion in the liver NOT_TRANSLATED -en nl HP:0006559 rdfs:label Hepatic calcification Hepatische calcificatie CANDIDATE -en nl HP:0006559 IAO:0000115 The presence of abnormal calcium deposition in the liver The presence of abnormal calcium deposition in the liver NOT_TRANSLATED -en nl HP:0006560 rdfs:label Biliary hyperplasia Biliaire hyperplasie CANDIDATE -en nl HP:0006560 IAO:0000115 Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia NOT_TRANSLATED -en nl HP:0006561 rdfs:label Lipid accumulation in hepatocytes Lipide accumulatie in hepatocyten CANDIDATE -en nl HP:0006562 rdfs:label Viral hepatitis Virale hepatitis CANDIDATE -en nl HP:0006562 IAO:0000115 Inflammation of the liver due to infection with a virus Inflammation of the liver due to infection with a virus NOT_TRANSLATED -en nl HP:0006563 rdfs:label Malformation of the hepatic ductal plate Malformatie van de hepatische ductale plaat CANDIDATE -en nl HP:0006564 rdfs:label Fluctuating hepatomegaly Fluctuerende hepatomegalie CANDIDATE -en nl HP:0006564 IAO:0000115 Intermittently increased size of the liver Intermittently increased size of the liver NOT_TRANSLATED -en nl HP:0006565 rdfs:label Increased hepatocellular lipid droplets Verhoogde hepatocellulaire lipide druppels CANDIDATE -en nl HP:0006565 IAO:0000115 An abnormal increase in the amount of intracellular lipid droplets in hepatocytes An abnormal increase in the amount of intracellular lipid droplets in hepatocytes NOT_TRANSLATED -en nl HP:0006566 rdfs:label Neonatal cholestatic liver disease Neonatale cholestatische lever ziekte CANDIDATE -en nl HP:0006568 rdfs:label Increased hepatic glycogen content Verhoogde hepatische glycogeen inhoud CANDIDATE -en nl HP:0006568 IAO:0000115 An increase in the amount of glycogen stored in hepatocytes compared to normal An increase in the amount of glycogen stored in hepatocytes compared to normal NOT_TRANSLATED -en nl HP:0006571 rdfs:label Reduced number of intrahepatic bile ducts Verminderd aantal intrahepatische galggangen CANDIDATE -en nl HP:0006571 IAO:0000115 The presence of reduced numbers of intrahepatic bile duct than normal The presence of reduced numbers of intrahepatic bile duct than normal NOT_TRANSLATED -en nl HP:0006572 rdfs:label Subacute progressive viral hepatitis Subacute progressieve virale hepatitis CANDIDATE -en nl HP:0006573 rdfs:label Acute hepatic steatosis Acute hepatische steatose CANDIDATE -en nl HP:0006573 IAO:0000115 An acute form of hepatic steatosis An acute form of hepatic steatosis NOT_TRANSLATED -en nl HP:0006574 rdfs:label Hepatic arteriovenous malformation Hepatische arterioveneuze malformatie CANDIDATE -en nl HP:0006575 rdfs:label Intrahepatic cholestasis with episodic jaundice Intrahepatische cholestase met episodische icterus CANDIDATE -en nl HP:0006576 rdfs:label Hepatic vascular malformations Hepatische vasculaire malformaties CANDIDATE -en nl HP:0006577 rdfs:label Macronodular cirrhosis Macronodulaire cirrose CANDIDATE -en nl HP:0006577 IAO:0000115 A type of cirrhosis characterized by the presence of large regenerative nodules A type of cirrhosis characterized by the presence of large regenerative nodules NOT_TRANSLATED -en nl HP:0006579 rdfs:label Prolonged neonatal jaundice Verlengde neonatale icterus CANDIDATE -en nl HP:0006579 IAO:0000115 Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants NOT_TRANSLATED -en nl HP:0006580 rdfs:label Portal fibrosis Portale fibrose CANDIDATE -en nl HP:0006580 IAO:0000115 Fibroblast proliferation and fiber expansion from the portal areas to the lobule Fibroblast proliferation and fiber expansion from the portal areas to the lobule NOT_TRANSLATED -en nl HP:0006581 rdfs:label Depletion of mitochondrial DNA in liver Uitputting van mitochondriaal DNA in de lever CANDIDATE -en nl HP:0006581 IAO:0000115 An abnormal reduction in the number of mitochondria in hepatocytes An abnormal reduction in the number of mitochondria in hepatocytes NOT_TRANSLATED -en nl HP:0006582 rdfs:label Reye syndrome-like episodes Reye syndroom-achtige episoden CANDIDATE -en nl HP:0006582 IAO:0000115 Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure NOT_TRANSLATED -en nl HP:0006583 rdfs:label Fatal liver failure in infancy Fataal leverfalen in jeugd CANDIDATE -en nl HP:0006584 rdfs:label Small abnormally formed scapulae Kleine abnormaal gevormde scapulae CANDIDATE -en nl HP:0006585 rdfs:label Congenital pseudoarthrosis of the clavicle Congenitale pseudoartrose van de clavicula CANDIDATE -en nl HP:0006585 IAO:0000115 The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle NOT_TRANSLATED -en nl HP:0006587 rdfs:label Straight clavicles Rechte claviculae CANDIDATE -en nl HP:0006587 IAO:0000115 An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved NOT_TRANSLATED -en nl HP:0006589 rdfs:label Flaring of lower rib cage Flaring of lower rib cage NOT_TRANSLATED -en nl HP:0006590 rdfs:label Premature sternal synostosis Premature sternale synostose CANDIDATE -en nl HP:0006590 IAO:0000115 Prematurely closed sternal sutures Prematurely closed sternal sutures NOT_TRANSLATED -en nl HP:0006591 rdfs:label Absent glenoid fossa Afwezig glenoïde fossa CANDIDATE -en nl HP:0006591 IAO:0000115 Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus NOT_TRANSLATED -en nl HP:0006593 rdfs:label Anomalous rib insertion to vertebrae Abnormale rib insertie aan wervels CANDIDATE -en nl HP:0006595 rdfs:label Scapulohumeral synostosis Scapulohumerale synostose CANDIDATE -en nl HP:0006595 IAO:0000115 Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint NOT_TRANSLATED -en nl HP:0006596 rdfs:label Restricted chest movement Beperkte borstbeweging CANDIDATE -en nl HP:0006597 rdfs:label Diaphragmatic paralysis Diafragmatische paralyse CANDIDATE -en nl HP:0006597 IAO:0000115 The presence of a paralyzed diaphragm The presence of a paralyzed diaphragm NOT_TRANSLATED -en nl HP:0006598 rdfs:label Irregular ossification at anterior rib ends Irregulaire ossificatie aan anterieure uiteinden van rib CANDIDATE -en nl HP:0006599 rdfs:label Medial widening of clavicles Mediale verwijding van claviculae CANDIDATE -en nl HP:0006600 rdfs:label Progressive calcification of costochondral cartilage Progressieve calcificatie van costochondraal kraakbreen CANDIDATE -en nl HP:0006603 rdfs:label Flared, irregular rib ends Flared, irregular rib ends NOT_TRANSLATED -en nl HP:0006606 rdfs:label Irregular chondrocostal junctions Irregulaire chondrocostale overgangen CANDIDATE -en nl HP:0006606 IAO:0000115 Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum NOT_TRANSLATED -en nl HP:0006607 rdfs:label Precocious costochondral ossification Premature costochondrale ossificatie CANDIDATE -en nl HP:0006607 IAO:0000115 Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage NOT_TRANSLATED -en nl HP:0006608 rdfs:label Midclavicular hypoplasia Midclaviculaire hypoplasie CANDIDATE -en nl HP:0006608 IAO:0000115 Underdevelopment of the middle portion of the clavicle Underdevelopment of the middle portion of the clavicle NOT_TRANSLATED -en nl HP:0006610 rdfs:label Wide intermamillary distance Brede intermamillaire afstand CANDIDATE -en nl HP:0006610 IAO:0000115 A larger than usual distance between the left and right nipple A larger than usual distance between the left and right nipple NOT_TRANSLATED -en nl HP:0006611 rdfs:label Decreased number of sternal ossification centers Verminderd aantal centra van sternale ossificatie CANDIDATE -en nl HP:0006611 IAO:0000115 A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms NOT_TRANSLATED -en nl HP:0006615 rdfs:label Absent in utero rib ossification Afwezige rib ossificatie in utero CANDIDATE -en nl HP:0006615 IAO:0000115 Lack of formation and mineralization of the ribs in utero Lack of formation and mineralization of the ribs in utero NOT_TRANSLATED -en nl HP:0006619 rdfs:label Anterior rib punctate calcifications Anterior rib punctate calcifications NOT_TRANSLATED -en nl HP:0006619 IAO:0000115 Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs NOT_TRANSLATED -en nl HP:0006623 rdfs:label Costochondral joint sclerosis Sclerose van costochondraal gewricht CANDIDATE -en nl HP:0006623 IAO:0000115 Abnormal increase in density of the tissue at the costochondral junctions Abnormal increase in density of the tissue at the costochondral junctions NOT_TRANSLATED -en nl HP:0006625 rdfs:label Multifocal breast carcinoma Multifocaal mammacarcinoom CANDIDATE -en nl HP:0006625 IAO:0000115 Breast carcinoma that is bilateral or otherwise multifocal Breast carcinoma that is bilateral or otherwise multifocal NOT_TRANSLATED -en nl HP:0006628 rdfs:label Absent sternal ossification Afwezige sternale ossificatie CANDIDATE -en nl HP:0006628 IAO:0000115 Lack of formation of mineralized bony tissue of the sternum Lack of formation of mineralized bony tissue of the sternum NOT_TRANSLATED -en nl HP:0006631 rdfs:label Hypoplastic distal segments of scapulae Hypoplastische distale segmenten van scapulae CANDIDATE -en nl HP:0006633 rdfs:label Glenoid fossa hypoplasia Glenoïd fossa hypoplasie CANDIDATE -en nl HP:0006633 IAO:0000115 Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus NOT_TRANSLATED -en nl HP:0006634 rdfs:label Osteosclerosis of ribs Osteosclerose van ribben CANDIDATE -en nl HP:0006634 IAO:0000115 Osteosclerosis of ribs (increased density related to increased bone mass) Osteosclerosis of ribs (increased density related to increased bone mass) NOT_TRANSLATED -en nl HP:0006637 rdfs:label Sternal punctate calcifications Sternal punctate calcifications NOT_TRANSLATED -en nl HP:0006638 rdfs:label Midclavicular aplasia Midclaviculaire aplasie CANDIDATE -en nl HP:0006638 IAO:0000115 Developmental defect resulting in congenital absence of the middle portion of the clavicle Developmental defect resulting in congenital absence of the middle portion of the clavicle NOT_TRANSLATED -en nl HP:0006640 rdfs:label Multiple rib fractures Multipele rib fracturen CANDIDATE -en nl HP:0006640 IAO:0000115 More than one fracture of the ribs More than one fracture of the ribs NOT_TRANSLATED -en nl HP:0006641 rdfs:label Prominent floating ribs Prominente floating ribben CANDIDATE -en nl HP:0006642 rdfs:label Large sternal ossification centers Grote centra van sternale ossificatie CANDIDATE -en nl HP:0006643 rdfs:label Fused sternal ossification centers Gefuseerde centra van sternale ossificatie CANDIDATE -en nl HP:0006644 rdfs:label Thoracic dysplasia Thoracale dysplasie CANDIDATE -en nl HP:0006645 rdfs:label Thin clavicles Dunne claviculae CANDIDATE -en nl HP:0006645 IAO:0000115 Abnormally reduced diameter (cross section) of the clavicles Abnormally reduced diameter (cross section) of the clavicles NOT_TRANSLATED -en nl HP:0006646 rdfs:label Costal cartilage calcification Calcificatie van het kraakbeen van de ribben CANDIDATE -en nl HP:0006646 IAO:0000115 Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax NOT_TRANSLATED -en nl HP:0006647 rdfs:label Congenital microthorax Congenitale microthorax CANDIDATE -en nl HP:0006649 rdfs:label Costochondral pain Costochondrale pijn CANDIDATE -en nl HP:0006649 IAO:0000115 Chest wall pain in the area of the costochondral junctions Chest wall pain in the area of the costochondral junctions NOT_TRANSLATED -en nl HP:0006650 rdfs:label Thickening of the lateral border of the scapula Verdikking van de laterale rand van de scapula CANDIDATE -en nl HP:0006655 rdfs:label Rib segmentation abnormalities Rib segmentatie afwijkingen CANDIDATE -en nl HP:0006657 rdfs:label Hypoplasia of first ribs Hypoplasie van eerste ribben CANDIDATE -en nl HP:0006659 rdfs:label Internally rotated shoulders Intern gedraaide schouders CANDIDATE -en nl HP:0006660 rdfs:label Aplastic clavicle Aplastische claviculae CANDIDATE -en nl HP:0006660 IAO:0000115 Absence of the clavicles as a developmental defect Absence of the clavicles as a developmental defect NOT_TRANSLATED -en nl HP:0006665 rdfs:label Coat hanger sign of ribs Coat hanger sign of ribs NOT_TRANSLATED -en nl HP:0006665 IAO:0000115 An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger) An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger) NOT_TRANSLATED -en nl HP:0006668 rdfs:label Twelfth rib hypoplasia Twaalfde rib hypoplasie CANDIDATE -en nl HP:0006670 rdfs:label Impaired myocardial contractility Verminderde myocardiale contractiliteit CANDIDATE -en nl HP:0006671 rdfs:label Paroxysmal atrial tachycardia Paroxysmale atriale tachycardie CANDIDATE -en nl HP:0006673 rdfs:label Reduced systolic function Verminderde systolische functie CANDIDATE -en nl HP:0006677 rdfs:label Prolonged QRS complex Verlengd QRS complex CANDIDATE -en nl HP:0006677 IAO:0000115 Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec NOT_TRANSLATED -en nl HP:0006679 rdfs:label Granulomatous coronary arteritis Granulomateuze coronaire arteritis CANDIDATE -en nl HP:0006679 IAO:0000115 Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells NOT_TRANSLATED -en nl HP:0006681 rdfs:label Absent atrioventricular node Afwezige atrioventriculaire knoop CANDIDATE -en nl HP:0006682 rdfs:label Premature ventricular contraction Ventriculaire extrasystoles CANDIDATE -en nl HP:0006682 IAO:0000115 Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node NOT_TRANSLATED -en nl HP:0006683 rdfs:label Abnormal ventricular filling Afwijkende ventriculaire vulling CANDIDATE -en nl HP:0006683 IAO:0000115 An abnormality of filling of a ventricle with blood during diastole An abnormality of filling of a ventricle with blood during diastole NOT_TRANSLATED -en nl HP:0006684 rdfs:label Ventricular preexcitation with multiple accessory pathways Ventriculaire pre-excitatie met multipele toegangswegen CANDIDATE -en nl HP:0006684 IAO:0000115 A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction NOT_TRANSLATED -en nl HP:0006685 rdfs:label Endocardial fibrosis Endocardiale fibrose CANDIDATE -en nl HP:0006685 IAO:0000115 The presence of excessive connective tissue in the endocardium The presence of excessive connective tissue in the endocardium NOT_TRANSLATED -en nl HP:0006687 rdfs:label Aortic tortuosity Tortuositeit van aorta CANDIDATE -en nl HP:0006687 IAO:0000115 Abnormal tortuous (i.e., twisted) form of the aorta Abnormal tortuous (i.e., twisted) form of the aorta NOT_TRANSLATED -en nl HP:0006688 rdfs:label Paroxysmal tachycardia Paroxysmale tachycardie CANDIDATE -en nl HP:0006689 rdfs:label Bacterial endocarditis Bacteriële endocarditis CANDIDATE -en nl HP:0006689 IAO:0000115 A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves NOT_TRANSLATED -en nl HP:0006690 rdfs:label Myocardial calcification Myocardiale calcificatie CANDIDATE -en nl HP:0006690 IAO:0000115 Calcium deposition in the myocardium Calcium deposition in the myocardium NOT_TRANSLATED -en nl HP:0006691 rdfs:label Pulmonic valve myxoma Pulmonaalklep myxoom CANDIDATE -en nl HP:0006692 rdfs:label Short chordae tendineae of the tricuspid valve Korte chordae tendineae van de tricuspidalisklep CANDIDATE -en nl HP:0006692 IAO:0000115 Abnormally short chordae tendineae of the tricuspid valve Abnormally short chordae tendineae of the tricuspid valve NOT_TRANSLATED -en nl HP:0006693 rdfs:label Myocardial steatosis Myocardiale steatose CANDIDATE -en nl HP:0006693 IAO:0000115 Steatosis in the myocardium Steatosis in the myocardium NOT_TRANSLATED -en nl HP:0006694 rdfs:label Early progressive calcific cardiac valvular disease Vroeg progressieve calcificerende hartklep ziekte CANDIDATE -en nl HP:0006695 rdfs:label Atrioventricular canal defect Atrioventriculair kanaal defect CANDIDATE -en nl HP:0006695 IAO:0000115 A defect of the atrioventricular septum of the heart A defect of the atrioventricular septum of the heart NOT_TRANSLATED -en nl HP:0006696 rdfs:label Polymorphic and polytopic ventricular extrasystoles Polymorfe en polytopische ventriculaire extrasystoles CANDIDATE -en nl HP:0006698 rdfs:label Dilatation of the ventricular cavity Dilatatie van ventriculaire holte CANDIDATE -en nl HP:0006698 IAO:0000115 A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole NOT_TRANSLATED -en nl HP:0006699 rdfs:label Premature atrial contractions Premature atriale contracties CANDIDATE -en nl HP:0006699 IAO:0000115 A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites NOT_TRANSLATED -en nl HP:0006702 rdfs:label Coronary artery dissection Coronary artery dissection CANDIDATE -en nl HP:0006702 IAO:0000115 Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery NOT_TRANSLATED -en nl HP:0006703 rdfs:label Aplasia/Hypoplasia of the lungs Aplasia/hypoplasie van de longen CANDIDATE -en nl HP:0006704 rdfs:label Abnormal coronary artery morphology Afwijkende coronairarterie morfologie CANDIDATE -en nl HP:0006704 IAO:0000115 Any structural abnormality of the coronary arteries Any structural abnormality of the coronary arteries NOT_TRANSLATED -en nl HP:0006705 rdfs:label Abnormal atrioventricular valve morphology Afwijkende atrioventriculaire klep morfologie CANDIDATE -en nl HP:0006705 IAO:0000115 An abnormality of an atrioventricular valve An abnormality of an atrioventricular valve NOT_TRANSLATED -en nl HP:0006706 rdfs:label Cystic liver disease Cysteuze leverziekte CANDIDATE -en nl HP:0006707 rdfs:label Abnormality of the hepatic vasculature Afwijking van de hepatische vasculatuur CANDIDATE -en nl HP:0006707 IAO:0000115 An abnormality of the hepatic vasculature An abnormality of the hepatic vasculature NOT_TRANSLATED -en nl HP:0006709 rdfs:label Aplasia/Hypoplasia of the nipples Aplasia/Hypoplasie van de tepels CANDIDATE -en nl HP:0006710 rdfs:label Aplasia/Hypoplasia of the clavicles Aplasia/Hypoplasie van de claviculae CANDIDATE -en nl HP:0006710 IAO:0000115 Absence or underdevelopment of the clavicles (collar bones) Absence or underdevelopment of the clavicles (collar bones) NOT_TRANSLATED -en nl HP:0006711 rdfs:label Aplasia/Hypoplasia involving bones of the thorax Aplasia/Hypoplasie waarbij botten van de thorax betrokken zijn CANDIDATE -en nl HP:0006712 rdfs:label Aplasia/Hypoplasia of the ribs Aplasia/Hypoplasie van de ribben CANDIDATE -en nl HP:0006713 rdfs:label Aplasia/Hypoplasia of the scapulae Aplasia/Hypoplasie van de scapulae CANDIDATE -en nl HP:0006714 rdfs:label Aplasia/Hypoplasia of the sternum Aplasia/Hypoplasie van het sternum CANDIDATE -en nl HP:0006715 rdfs:label Glomus tympanicum paraganglioma Glomus tympanicum paragangliomen CANDIDATE -en nl HP:0006716 rdfs:label Hereditary nonpolyposis colorectal carcinoma Hereditair nonpolyposis colorectaalcarcinoom CANDIDATE -en nl HP:0006717 rdfs:label Peripheral neuroepithelioma Perifeer neuroepithelioom CANDIDATE -en nl HP:0006719 rdfs:label Benign gastrointestinal tract tumors Benigne gastro-intestinale tumoren CANDIDATE -en nl HP:0006721 rdfs:label Acute lymphoblastic leukemia Acute lymfatische leukemie CANDIDATE -en nl HP:0006721 IAO:0000115 A form of acute leukemia characterized by excess lympoblasts A form of acute leukemia characterized by excess lympoblasts NOT_TRANSLATED -en nl HP:0006722 rdfs:label Small intestine carcinoid Dunne darm carcinoïd CANDIDATE -en nl HP:0006723 rdfs:label Intestinal carcinoid Intestinaal carcinoïd CANDIDATE -en nl HP:0006725 rdfs:label Pancreatic adenocarcinoma Pancreatisch adenocarcinoom CANDIDATE -en nl HP:0006725 IAO:0000115 The presence of an adenocarcinoma of the pancreas The presence of an adenocarcinoma of the pancreas NOT_TRANSLATED -en nl HP:0006727 rdfs:label T-cell acute lymphoblastic leukemias T-cel acute lymfatische leukemie CANDIDATE -en nl HP:0006727 IAO:0000115 Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females NOT_TRANSLATED -en nl HP:0006729 rdfs:label Retroperitoneal chemodectomas Retroperitoneale chemodectomen CANDIDATE -en nl HP:0006731 rdfs:label Follicular thyroid carcinoma Folliculair schildklier carcinoom CANDIDATE -en nl HP:0006731 IAO:0000115 The presence of an follicular adenocarcinoma of the thyroid gland The presence of an follicular adenocarcinoma of the thyroid gland NOT_TRANSLATED -en nl HP:0006732 rdfs:label Papillary renal cell carcinoma type 2 Papillair niercelcarcinoom type 2 CANDIDATE -en nl HP:0006732 IAO:0000115 A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification NOT_TRANSLATED -en nl HP:0006733 rdfs:label Acute megakaryocytic leukemia Acute megakaryocytaire leukemie CANDIDATE -en nl HP:0006733 IAO:0000115 A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts NOT_TRANSLATED -en nl HP:0006735 rdfs:label Renal cortical adenoma Renaal corticaal adenoom CANDIDATE -en nl HP:0006735 IAO:0000115 The presence of an adenoma in the cortex of the kidney The presence of an adenoma in the cortex of the kidney NOT_TRANSLATED -en nl HP:0006737 rdfs:label Extraadrenal pheochromocytoma Extra-adrenaal feochromocytoom CANDIDATE -en nl HP:0006737 IAO:0000115 Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia NOT_TRANSLATED -en nl HP:0006739 rdfs:label Squamous cell carcinoma of the skin Plaveiselcelcarcinoom van de huid CANDIDATE -en nl HP:0006739 IAO:0000115 Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium NOT_TRANSLATED -en nl HP:0006740 rdfs:label Transitional cell carcinoma of the bladder Overgangscelcarcinoom van de blaas CANDIDATE -en nl HP:0006740 IAO:0000115 The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell NOT_TRANSLATED -en nl HP:0006742 rdfs:label Congenital neuroblastoma Congenitaal neuroblastoom CANDIDATE -en nl HP:0006743 rdfs:label Embryonal rhabdomyosarcoma Embryonaal rhabdomyosarcoom CANDIDATE -en nl HP:0006744 rdfs:label Adrenocortical carcinoma Adrenocorticaal carcinoom CANDIDATE -en nl HP:0006744 IAO:0000115 A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone NOT_TRANSLATED -en nl HP:0006747 rdfs:label Ganglioneuroblastoma Ganglioneuroblastoom CANDIDATE -en nl HP:0006748 rdfs:label Adrenal pheochromocytoma Feochromocytoom van de bijnier CANDIDATE -en nl HP:0006748 IAO:0000115 Pheochromocytoma originating from the adrenal medulla Pheochromocytoma originating from the adrenal medulla NOT_TRANSLATED -en nl HP:0006749 rdfs:label Malignant gastrointestinal tract tumors Maligne gastro-intestinale tumoren CANDIDATE -en nl HP:0006751 rdfs:label Paraspinal neurofibromas Paraspinale neurofibromen CANDIDATE -en nl HP:0006753 rdfs:label Neoplasm of the stomach Neoplasma van de maag CANDIDATE -en nl HP:0006753 IAO:0000115 A tumor (abnormal growth of tissue) of the stomach A tumor (abnormal growth of tissue) of the stomach NOT_TRANSLATED -en nl HP:0006755 rdfs:label Cutaneous leiomyosarcoma Cutaan leiomyosarcoom CANDIDATE -en nl HP:0006755 IAO:0000115 The presence of leiomyosarcoma of the skin The presence of leiomyosarcoma of the skin NOT_TRANSLATED -en nl HP:0006756 rdfs:label Diffuse leiomyomatosis Diffuse leiomyomatose CANDIDATE -en nl HP:0006758 rdfs:label Malignant genitourinary tract tumor Maligne urogenitale tumor CANDIDATE -en nl HP:0006758 IAO:0000115 The presence of a malignant neoplasm of the genital system The presence of a malignant neoplasm of the genital system NOT_TRANSLATED -en nl HP:0006762 rdfs:label Renal pelvic carcinoma Renale bekken carcinoom CANDIDATE -en nl HP:0006762 IAO:0000115 The presence of a carcinoma in the renal pelvis The presence of a carcinoma in the renal pelvis NOT_TRANSLATED -en nl HP:0006763 rdfs:label Anal canal squamous carcinoma Plaveiselcelcarcinoom van anale kanaal CANDIDATE -en nl HP:0006765 rdfs:label Chondrosarcoma Chondrosarcoom CANDIDATE -en nl HP:0006765 IAO:0000115 A slowly growing malignant neoplasm derived from cartilage cells A slowly growing malignant neoplasm derived from cartilage cells NOT_TRANSLATED -en nl HP:0006766 rdfs:label Papillary renal cell carcinoma Papillaire niercelcarcinoom CANDIDATE -en nl HP:0006766 IAO:0000115 The presence of renal cell carcinoma in the renal papilla The presence of renal cell carcinoma in the renal papilla NOT_TRANSLATED -en nl HP:0006767 rdfs:label Pituitary prolactin cell adenoma Prolactinoom CANDIDATE -en nl HP:0006767 IAO:0000115 A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women NOT_TRANSLATED -en nl HP:0006768 rdfs:label Localized neuroblastoma Gelokaliseerde neuroblastoom CANDIDATE -en nl HP:0006769 rdfs:label Myxoid subcutaneous tumors Myxoïde subcutane tumoren CANDIDATE -en nl HP:0006770 rdfs:label Clear cell renal cell carcinoma Clear cel niercelcarcinoom CANDIDATE -en nl HP:0006770 IAO:0000115 A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron NOT_TRANSLATED -en nl HP:0006771 rdfs:label Duodenal adenocarcinoma Duodenaal adenocarcinoom CANDIDATE -en nl HP:0006771 IAO:0000115 A malignant epithelial tumor with a glandular organization that originates in the duodenum A malignant epithelial tumor with a glandular organization that originates in the duodenum NOT_TRANSLATED -en nl HP:0006772 rdfs:label Renal angiomyolipoma Renaal angiomyolipoom CANDIDATE -en nl HP:0006772 IAO:0000115 A benign renal neoplasm composed of fat, vascular, and smooth muscle elements A benign renal neoplasm composed of fat, vascular, and smooth muscle elements NOT_TRANSLATED -en nl HP:0006773 rdfs:label Cutaneous angiolipomas Cutane angiolipomen CANDIDATE -en nl HP:0006774 rdfs:label Ovarian papillary adenocarcinoma Ovarieel papillair adenocarcinoom CANDIDATE -en nl HP:0006774 IAO:0000115 The presence of a papillary adenocarcinoma of the ovary The presence of a papillary adenocarcinoma of the ovary NOT_TRANSLATED -en nl HP:0006775 rdfs:label Multiple myeloma Multipel myeloom CANDIDATE -en nl HP:0006775 IAO:0000115 A malignant plasma cell tumor growing within soft tissue or within the skeleton A malignant plasma cell tumor growing within soft tissue or within the skeleton NOT_TRANSLATED -en nl HP:0006778 rdfs:label Benign genitourinary tract neoplasm Goedaardige urogenitale gezwellen CANDIDATE -en nl HP:0006778 IAO:0000115 A non-malignant neoplasm of the genitourinary system A non-malignant neoplasm of the genitourinary system NOT_TRANSLATED -en nl HP:0006779 rdfs:label Alveolar rhabdomyosarcoma Alveolair rhabdomyosarcoom CANDIDATE -en nl HP:0006780 rdfs:label Parathyroid carcinoma Parathyroid carcinoom CANDIDATE -en nl HP:0006780 IAO:0000115 A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism NOT_TRANSLATED -en nl HP:0006781 rdfs:label Hurthle cell thyroid adenoma Hurthle cel schildklier adenoom CANDIDATE -en nl HP:0006781 IAO:0000115 A kind of thyroid adenoma characterized by the presence of oxyphil cells A kind of thyroid adenoma characterized by the presence of oxyphil cells NOT_TRANSLATED -en nl HP:0006782 rdfs:label Malignant eosinophil proliferation Maligne eosinofiele proliferatie CANDIDATE -en nl HP:0006783 rdfs:label Posterior pharyngeal cleft Posterieur gespleten farynx CANDIDATE -en nl HP:0006784 rdfs:label Paranasal sinus hypoplasia Paranasale sinus hypoplasie CANDIDATE -en nl HP:0006784 IAO:0000115 Underdevelopment of the paranasal sinuses Underdevelopment of the paranasal sinuses NOT_TRANSLATED -en nl HP:0006785 rdfs:label Limb-girdle muscular dystrophy Bekkengordel spierdystrofie CANDIDATE -en nl HP:0006785 IAO:0000115 Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders) Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders) NOT_TRANSLATED -en nl HP:0400007 rdfs:label Polymenorrhea Polymenorroe CANDIDATE -en nl HP:0400007 IAO:0000115 Frequent menses; menstrual cycles lasting less than 21 days Frequent menses; menstrual cycles lasting less than 21 days NOT_TRANSLATED -en nl HP:0400004 rdfs:label Long ear Lang oor CANDIDATE -en nl HP:0400004 IAO:0000115 Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear NOT_TRANSLATED -en nl HP:0400005 rdfs:label Short ear Kort oor CANDIDATE -en nl HP:0400005 IAO:0000115 Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear NOT_TRANSLATED -en nl HP:0400002 rdfs:label Extra concha fold Extra concha vouwen CANDIDATE -en nl HP:0400002 IAO:0000115 Folds or ridges within the concha that are distinct from the crus helix Folds or ridges within the concha that are distinct from the crus helix NOT_TRANSLATED -en nl HP:0006789 rdfs:label Mitochondrial encephalopathy Mitochondriale encefalopathie CANDIDATE -en nl HP:0400003 rdfs:label Focal absence of the external ear Focale afwezigheid van het externe oor CANDIDATE -en nl HP:0400003 IAO:0000115 Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe) Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe) NOT_TRANSLATED -en nl HP:0006790 rdfs:label Cerebral cortex with spongiform changes Cerebrale cortex met spongiforme veranderingen CANDIDATE -en nl HP:0400000 rdfs:label Tall chin Lange kin CANDIDATE -en nl HP:0400000 IAO:0000115 Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin NOT_TRANSLATED -en nl HP:0400001 rdfs:label Chin with vertical crease Kin met verticale plooi CANDIDATE -en nl HP:0400001 IAO:0000115 Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest NOT_TRANSLATED -en nl HP:0006794 rdfs:label Loss of ability to walk in first decade Verlies van vermogen om te lopen in eerste decade CANDIDATE -en nl HP:0400008 rdfs:label Menometrorrhagia Menometrorrhagie CANDIDATE -en nl HP:0400008 IAO:0000115 Prolonged/excessive menses and bleeding at irregular intervals Prolonged/excessive menses and bleeding at irregular intervals NOT_TRANSLATED -en nl HP:0006799 rdfs:label Basal ganglia cysts Basale ganglia cysten CANDIDATE -en nl HP:0006801 rdfs:label Hyperactive deep tendon reflexes Hyperactieve diepe peesreflexen CANDIDATE -en nl HP:0006802 rdfs:label Abnormal anterior horn cell morphology Afwijkende voorhoorncel morfologie CANDIDATE -en nl HP:0006802 IAO:0000115 Any anomaly of the anterior horn cell Any anomaly of the anterior horn cell NOT_TRANSLATED -en nl HP:0006803 rdfs:label Vivid hallucinations Levendige hallucinaties CANDIDATE -en nl HP:0006808 rdfs:label Cerebral hypomyelination Cerebrale hypomyelinisatie CANDIDATE -en nl HP:0006808 IAO:0000115 Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system NOT_TRANSLATED -en nl HP:0006812 rdfs:label White mater abnormalities in the posterior periventricular region Witte stof afwijkingen in de posterieure periventriculaire regio CANDIDATE -en nl HP:0006813 rdfs:label Focal hemiclonic seizure Hemiclonische insulten CANDIDATE -en nl HP:0006813 IAO:0000115 A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset NOT_TRANSLATED -en nl HP:0006817 rdfs:label Aplasia/Hypoplasia of the cerebellar vermis Aplasia/Hypoplasie van de vermis CANDIDATE -en nl HP:0006817 IAO:0000115 Absence or underdevelopment of the vermis of cerebellum Absence or underdevelopment of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0006818 rdfs:label 4-layered lissencephaly Type 1 lissencefalie CANDIDATE -en nl HP:0006818 IAO:0000115 A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm NOT_TRANSLATED -en nl HP:0006821 rdfs:label Frontal polymicrogyria Polymicrogyrie, anterieur naar posterieure gradiënt CANDIDATE -en nl HP:0006821 IAO:0000115 A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum NOT_TRANSLATED -en nl HP:0006824 rdfs:label Cranial nerve paralysis Hersenzenuwverlamming CANDIDATE -en nl HP:0006825 rdfs:label Pallor of dorsal columns of the spinal cord Bleekheid van dorsale kolommen van het ruggenmerg CANDIDATE -en nl HP:0006825 IAO:0000115 An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination NOT_TRANSLATED -en nl HP:0006827 rdfs:label Atrophy of the spinal cord Atrofie van het ruggenmerg CANDIDATE -en nl HP:0006829 rdfs:label Severe muscular hypotonia Ernstige musculaire hypotonie CANDIDATE -en nl HP:0006829 IAO:0000115 A severe degree of muscular hypotonia characterized by markedly reduced muscle tone A severe degree of muscular hypotonia characterized by markedly reduced muscle tone NOT_TRANSLATED -en nl HP:0006834 rdfs:label Developmental stagnation at onset of seizures Stagnatie van ontwikkeling bij aanvang insulten CANDIDATE -en nl HP:0006834 IAO:0000115 A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy NOT_TRANSLATED -en nl HP:0006837 rdfs:label Congenital Horner syndrome Congenitaal Horner syndroom CANDIDATE -en nl HP:0006837 IAO:0000115 A type of Horner syndrome with congenital onset A type of Horner syndrome with congenital onset NOT_TRANSLATED -en nl HP:0006844 rdfs:label Absent patellar reflexes Afwezige patellaire reflexen CANDIDATE -en nl HP:0006844 IAO:0000115 Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella NOT_TRANSLATED -en nl HP:0006846 rdfs:label Acute encephalopathy Acute encefalopathie CANDIDATE -en nl HP:0006849 rdfs:label Hypodysplasia of the corpus callosum Hypodysplasie van het corpus callosum CANDIDATE -en nl HP:0006849 IAO:0000115 Developmental defect characterized by a small and malformed corpus callosum Developmental defect characterized by a small and malformed corpus callosum NOT_TRANSLATED -en nl HP:0006850 rdfs:label Hypoplasia of the ventral pons Hypoplasie van de ventrale pons CANDIDATE -en nl HP:0006850 IAO:0000115 Underdevelopment of the ventral portion of the pons Underdevelopment of the ventral portion of the pons NOT_TRANSLATED -en nl HP:0006851 rdfs:label Symmetric spinal nerve root neurofibromas Symmetrische spinale zenuwwortel neurofibromen CANDIDATE -en nl HP:0006851 IAO:0000115 Multiple neurofibromas of the spinal nerve roots with a symmetric distribution Multiple neurofibromas of the spinal nerve roots with a symmetric distribution NOT_TRANSLATED -en nl HP:0006852 rdfs:label Episodic generalized hypotonia Episodische gegeneraliseerde hypotonie CANDIDATE -en nl HP:0006852 IAO:0000115 The occurrence of repeated episodes of generalized muscular hypotonia The occurrence of repeated episodes of generalized muscular hypotonia NOT_TRANSLATED -en nl HP:0006855 rdfs:label Cerebellar vermis atrophy Cerebellaire vermis atrofie CANDIDATE -en nl HP:0006855 IAO:0000115 Wasting (atrophy) of the vermis of cerebellum Wasting (atrophy) of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0006858 rdfs:label Impaired distal proprioception Verminderde distale proprioceptie CANDIDATE -en nl HP:0006858 IAO:0000115 A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints NOT_TRANSLATED -en nl HP:0006859 rdfs:label Posterior leukoencephalopathy Posterieure-leuko-encefalopathie CANDIDATE -en nl HP:0006863 rdfs:label Severe expressive language delay Ernstige expressieve taalachterstand CANDIDATE -en nl HP:0006863 IAO:0000115 A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED -en nl HP:0006865 rdfs:label Sensorimotor polyneuropathy affecting arms more than legs Sensomotore polyneuropathie de armen meer aantastend dan de benen CANDIDATE -en nl HP:0006866 rdfs:label Midline central nervous system lipomas Lipomen van het centrale zenuwstelsel in de middellijn CANDIDATE -en nl HP:0006870 rdfs:label Lobar holoprosencephaly Lobaire holoprosencefalie CANDIDATE -en nl HP:0006870 IAO:0000115 A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally NOT_TRANSLATED -en nl HP:0006872 rdfs:label Cerebral hypoplasia Cerebrale hypoplasie CANDIDATE -en nl HP:0006872 IAO:0000115 Underdevelopment of the cerebrum Underdevelopment of the cerebrum NOT_TRANSLATED -en nl HP:0006873 rdfs:label Symmetrical progressive peripheral demyelination Symmetrische progressieve perifere demyelinisatie CANDIDATE -en nl HP:0006873 IAO:0000115 A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED -en nl HP:0006879 rdfs:label Pontocerebellar atrophy Pontocerebellaire atrofie CANDIDATE -en nl HP:0006879 IAO:0000115 Atrophy affecting the pons and the cerebellum Atrophy affecting the pons and the cerebellum NOT_TRANSLATED -en nl HP:0006880 rdfs:label Cerebellar hemangioblastoma Cerebellair hemangioblastoom CANDIDATE -en nl HP:0006880 IAO:0000115 A hemangioblastoma of the cerebellum A hemangioblastoma of the cerebellum NOT_TRANSLATED -en nl HP:0006881 rdfs:label Diffuse peripheral demyelination Diffuse perifere demyelinisatie CANDIDATE -en nl HP:0006881 IAO:0000115 A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED -en nl HP:0006882 rdfs:label Severe hydrocephalus Ernstige hydrocephalus CANDIDATE -en nl HP:0006886 rdfs:label Impaired distal vibration sensation Verminderde distale tastzin CANDIDATE -en nl HP:0006886 IAO:0000115 A decrease in the ability to perceive vibration in the distal portions of the limbs A decrease in the ability to perceive vibration in the distal portions of the limbs NOT_TRANSLATED -en nl HP:0006887 rdfs:label Intellectual disability, progressive Verstandelijke beperking, progressief CANDIDATE -en nl HP:0006887 IAO:0000115 The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time NOT_TRANSLATED -en nl HP:0006888 rdfs:label Meningoencephalocele Meningoencefalocele CANDIDATE -en nl HP:0006889 rdfs:label Intellectual disability, borderline Verstandelijke beperking, borderline CANDIDATE -en nl HP:0006889 IAO:0000115 Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85 Zwakbegaafd wordt gedefinieerd door een intelligentie quotiënt (IQ) van 70-85 CANDIDATE -en nl HP:0006891 rdfs:label Thick cerebral cortex Dikke cerebrale cortex CANDIDATE -en nl HP:0006892 rdfs:label Frontotemporal cerebral atrophy Frontotemporale cerebrale atrofie CANDIDATE -en nl HP:0006892 IAO:0000115 Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum NOT_TRANSLATED -en nl HP:0006894 rdfs:label Hypoplastic olfactory lobes Hypoplastische olfactorische lobben CANDIDATE -en nl HP:0006895 rdfs:label Lower limb hypertonia Onderste ledematen hypertonie CANDIDATE -en nl HP:0006896 rdfs:label Hypnopompic hallucinations Hypnopompische hallucinaties CANDIDATE -en nl HP:0006896 IAO:0000115 Fleeting perceptual experiences that occur during the transition from sleep to wakefulness Fleeting perceptual experiences that occur during the transition from sleep to wakefulness NOT_TRANSLATED -en nl HP:0006897 rdfs:label Abducens palsy Hersenzenuw VI parese CANDIDATE -en nl HP:0006897 IAO:0000115 Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia NOT_TRANSLATED -en nl HP:0006899 rdfs:label Fusion of the cerebellar hemispheres Fusie van de cerebellaire hemisferen CANDIDATE -en nl HP:0006903 rdfs:label Congenital peripheral neuropathy Congenitale perifere neuropathie CANDIDATE -en nl HP:0006904 rdfs:label Late-onset spinocerebellar degeneration Late-onset spinocerebellaire degeneratie CANDIDATE -en nl HP:0006906 rdfs:label Congenital intracerebral calcification Congenitale intracerebrale verkalking CANDIDATE -en nl HP:0006906 IAO:0000115 The presence of calcium deposition within brain structures that is present already at the time of birth The presence of calcium deposition within brain structures that is present already at the time of birth NOT_TRANSLATED -en nl HP:0006913 rdfs:label Frontal cortical atrophy Frontale corticale atrofie CANDIDATE -en nl HP:0006913 IAO:0000115 Atrophy of the frontal cortex Atrophy of the frontal cortex NOT_TRANSLATED -en nl HP:0006915 rdfs:label Inability to walk by childhood/adolescence Onvermogen om te lopen tijdens jeugd/adolescentie CANDIDATE -en nl HP:0006916 rdfs:label Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Intra-axonale accumulatie van kromlijnig autofluorescent lipopigment opslag materiaal CANDIDATE -en nl HP:0006916 IAO:0000115 Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons NOT_TRANSLATED -en nl HP:0006918 rdfs:label Diffuse cerebral sclerosis Diffuse cerebrale sclerose CANDIDATE -en nl HP:0006919 rdfs:label Abnormal aggressive, impulsive or violent behavior Abnormaal agressief, impulsief of gewelddadig gedrag CANDIDATE -en nl HP:0006921 rdfs:label Axial muscle stiffness Axiale spierstijfheid CANDIDATE -en nl HP:0006921 IAO:0000115 Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature NOT_TRANSLATED -en nl HP:0006926 rdfs:label Metachromatic leukodystrophy variant Metachromatische leukodystrofie variant CANDIDATE -en nl HP:0006927 rdfs:label Unilateral polymicrogyria Unilaterale polymicrogyrie CANDIDATE -en nl HP:0006927 IAO:0000115 Excessive number of small gyri (convolutions) on the surface of one side of the brain Excessive number of small gyri (convolutions) on the surface of one side of the brain NOT_TRANSLATED -en nl HP:0006929 rdfs:label Hypoglycemic encephalopathy Hypoglycemische encefalopathie CANDIDATE -en nl HP:0006929 IAO:0000115 Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage NOT_TRANSLATED -en nl HP:0006930 rdfs:label Frontoparietal cortical dysplasia Frontoparietale corticale dysplasie CANDIDATE -en nl HP:0006930 IAO:0000115 The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe NOT_TRANSLATED -en nl HP:0006931 rdfs:label Pericallosal lipoma Lipoom van corpus callosum CANDIDATE -en nl HP:0006931 IAO:0000115 Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain NOT_TRANSLATED -en nl HP:0006932 rdfs:label Transient psychotic episodes Voorbijgaande psychotische episoden CANDIDATE -en nl HP:0006934 rdfs:label Congenital nystagmus Congenitale nystagmus CANDIDATE -en nl HP:0006934 IAO:0000115 Nystagmus dating from or present at birth Nystagmus dating from or present at birth NOT_TRANSLATED -en nl HP:0006937 rdfs:label Impaired distal tactile sensation Verminderde distale tastzin CANDIDATE -en nl HP:0006937 IAO:0000115 A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus NOT_TRANSLATED -en nl HP:0006938 rdfs:label Impaired vibration sensation at ankles Verminderde vibratiezin bij enkels CANDIDATE -en nl HP:0006938 IAO:0000115 A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles NOT_TRANSLATED -en nl HP:0006943 rdfs:label Diffuse spongiform leukoencephalopathy Diffuse spongiforme leuko-encefalopathie CANDIDATE -en nl HP:0006944 rdfs:label Abolished vibration sense Verdwenen tastzin CANDIDATE -en nl HP:0006944 IAO:0000115 A complete loss of the ability to perceive vibration A complete loss of the ability to perceive vibration NOT_TRANSLATED -en nl HP:0006946 rdfs:label Recurrent meningitis Recidiverende meningitis CANDIDATE -en nl HP:0006946 IAO:0000115 An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis NOT_TRANSLATED -en nl HP:0006949 rdfs:label Episodic peripheral neuropathy Episodische perifere neuropathie CANDIDATE -en nl HP:0006951 rdfs:label Retrocerebellar cyst Retrocerebellaire cyste CANDIDATE -en nl HP:0006955 rdfs:label Olivopontocerebellar hypoplasia Olivopontocerebellaire hypoplasie CANDIDATE -en nl HP:0006955 IAO:0000115 Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus NOT_TRANSLATED -en nl HP:0006956 rdfs:label Lateral ventricle dilatation Dilatatie van laterale ventrikels CANDIDATE -en nl HP:0006958 rdfs:label Abnormal auditory evoked potentials Afwijking van auditieve opgewekte potentialen CANDIDATE -en nl HP:0006958 IAO:0000115 An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex NOT_TRANSLATED -en nl HP:0006959 rdfs:label Proximal spinal muscular atrophy Proximale spinale musculaire atrofie CANDIDATE -en nl HP:0006959 IAO:0000115 Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem NOT_TRANSLATED -en nl HP:0006960 rdfs:label Choroid plexus calcification Choroïde plexus calcificatie CANDIDATE -en nl HP:0006960 IAO:0000115 The presence of calcium deposition in the choroid plexus The presence of calcium deposition in the choroid plexus NOT_TRANSLATED -en nl HP:0006961 rdfs:label Jerky head movements Krampachtige hoofdbewegingen CANDIDATE -en nl HP:0006962 rdfs:label Gait instability, worse in the dark Gang instabiliteit, slechter in het donker CANDIDATE -en nl HP:0006964 rdfs:label Cerebral cortical neurodegeneration Cerebrale corticale neurodegeneratie CANDIDATE -en nl HP:0006965 rdfs:label Acute necrotizing encephalopathy Acute necrotiserende encefalopathie CANDIDATE -en nl HP:0006970 rdfs:label Periventricular leukomalacia Periventriculaire leukomalacie CANDIDATE -en nl HP:0006970 IAO:0000115 Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia NOT_TRANSLATED -en nl HP:0006976 rdfs:label Necrotizing encephalopathy Necrotiserende encefalopathie CANDIDATE -en nl HP:0006976 IAO:0000115 A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue NOT_TRANSLATED -en nl HP:0006977 rdfs:label Grammar-specific speech disorder Grammatica-specifieke spraak aandoening CANDIDATE -en nl HP:0006978 rdfs:label Dysmyelinating leukodystrophy Dysmyeliniserende leukodystrofie CANDIDATE -en nl HP:0006979 rdfs:label Sleep-wake cycle disturbance Slaap-waak cyclus verstoring CANDIDATE -en nl HP:0006979 IAO:0000115 Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake NOT_TRANSLATED -en nl HP:0006980 rdfs:label Progressive leukoencephalopathy Progressieve leuko-encefalopathie CANDIDATE -en nl HP:0006980 IAO:0000115 Leukoencephalopathy that gets more severe with time Leukoencephalopathy that gets more severe with time NOT_TRANSLATED -en nl HP:0006986 rdfs:label Upper limb spasticity Spasticiteit van de bovenste ledematen CANDIDATE -en nl HP:0006988 rdfs:label Alobar holoprosencephaly Alobaire holoprosencefalie CANDIDATE -en nl HP:0006988 IAO:0000115 A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged NOT_TRANSLATED -en nl HP:0006989 rdfs:label Dysplastic corpus callosum Dysplastisch corpus callosum CANDIDATE -en nl HP:0006989 IAO:0000115 Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium NOT_TRANSLATED -en nl HP:0006990 rdfs:label Myelin-dependent gliosis Myeline-afhankelijke gliose CANDIDATE -en nl HP:0006990 IAO:0000115 A type of gliosis that occurs in the vicinity of injured neurons A type of gliosis that occurs in the vicinity of injured neurons NOT_TRANSLATED -en nl HP:0006992 rdfs:label Anterior basal encephalocele Anterieure basale encefalocele CANDIDATE -en nl HP:0006994 rdfs:label Diffuse leukoencephalopathy Diffuse leuko-encefalopathie CANDIDATE -en nl HP:0006999 rdfs:label Basal ganglia gliosis Basale ganglia gliose CANDIDATE -en nl HP:0006999 IAO:0000115 Focal proliferation of glial cells in the basal ganglia Focal proliferation of glial cells in the basal ganglia NOT_TRANSLATED -en nl HP:0007000 rdfs:label Morning myoclonic jerks Myoclonische schokken in de ochtend CANDIDATE -en nl HP:0007001 rdfs:label Loss of Purkinje cells in the cerebellar vermis Verlies van Purkinje cellen in de vermis CANDIDATE -en nl HP:0007002 rdfs:label Motor axonal neuropathy Motore axonale neuropathie CANDIDATE -en nl HP:0007002 IAO:0000115 Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg NOT_TRANSLATED -en nl HP:0007006 rdfs:label Dorsal column degeneration Dorsale kolom degeneratie CANDIDATE -en nl HP:0007007 rdfs:label Cavitation of the basal ganglia Cavitatie van de basale ganglia CANDIDATE -en nl HP:0007007 IAO:0000115 The formation of small cavities in the tissue of the basal ganglia The formation of small cavities in the tissue of the basal ganglia NOT_TRANSLATED -en nl HP:0007009 rdfs:label Central nervous system degeneration Centrale zenuwstelsel degeneratie CANDIDATE -en nl HP:0007010 rdfs:label Poor fine motor coordination Slechte fijne motoriek CANDIDATE -en nl HP:0007010 IAO:0000115 An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes NOT_TRANSLATED -en nl HP:0007011 rdfs:label Fourth cranial nerve palsy Nervus IV parese CANDIDATE -en nl HP:0007011 IAO:0000115 Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly NOT_TRANSLATED -en nl HP:0007015 rdfs:label Poor gross motor coordination Slechte grove motoriek CANDIDATE -en nl HP:0007015 IAO:0000115 An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts NOT_TRANSLATED -en nl HP:0007016 rdfs:label Corticospinal tract hypoplasia Corticospinale baan hypoplasie CANDIDATE -en nl HP:0007017 rdfs:label Progressive forgetfulness Progressieve vergeetachtigheid CANDIDATE -en nl HP:0007018 rdfs:label Attention deficit hyperactivity disorder Aandachtstekort met hyperactiviteit (ADHD) CANDIDATE -en nl HP:0007018 IAO:0000115 Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient NOT_TRANSLATED -en nl HP:0007020 rdfs:label Progressive spastic paraplegia Progressieve spastische paraplegie CANDIDATE -en nl HP:0007021 rdfs:label Pain insensitivity Ongevoeligheid voor pijn CANDIDATE -en nl HP:0007021 IAO:0000115 Inability to perceive painful stimuli Inability to perceive painful stimuli NOT_TRANSLATED -en nl HP:0007023 rdfs:label Antenatal intracerebral hemorrhage Antenatale intracerebrale bloeding CANDIDATE -en nl HP:0007023 IAO:0000115 Cerebral hemorrhage that occurs before birth Cerebral hemorrhage that occurs before birth NOT_TRANSLATED -en nl HP:0007024 rdfs:label Pseudobulbar paralysis Pseudobulbaire paralyse CANDIDATE -en nl HP:0007024 IAO:0000115 Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing NOT_TRANSLATED -en nl HP:0007027 rdfs:label Poorly formed metencephalon Slecht gevormd metencephalon CANDIDATE -en nl HP:0007027 IAO:0000115 A morphological abnormality of the metencephalon A morphological abnormality of the metencephalon NOT_TRANSLATED -en nl HP:0007029 rdfs:label Cerebral berry aneurysm Cerebraal berry aneurysma CANDIDATE -en nl HP:0007029 IAO:0000115 A small, sac-like aneurysm (outpouching) of a cerebral blood vessel A small, sac-like aneurysm (outpouching) of a cerebral blood vessel NOT_TRANSLATED -en nl HP:0007030 rdfs:label Nonprogressive encephalopathy Niet-progressieve encefalopathie CANDIDATE -en nl HP:0007033 rdfs:label Cerebellar dysplasia Cerebellaire dysplasie CANDIDATE -en nl HP:0007033 IAO:0000115 Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts NOT_TRANSLATED -en nl HP:0007034 rdfs:label Generalized hyperreflexia Gegeneraliseerde hyperreflexie CANDIDATE -en nl HP:0007035 rdfs:label Anterior encephalocele Anterieure encefalocele CANDIDATE -en nl HP:0007036 rdfs:label Hypoplasia of olfactory tract Hypoplasie van de tractus olfactorius CANDIDATE -en nl HP:0007039 rdfs:label Symmetric lesions of the basal ganglia Symmetrische leasies van basale ganglia CANDIDATE -en nl HP:0007041 rdfs:label Chronic lymphocytic meningitis Chronische lymfocytaire meningitis CANDIDATE -en nl HP:0007041 IAO:0000115 Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF) Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0007042 rdfs:label Focal white matter lesions Focale wittestofafwijkingen CANDIDATE -en nl HP:0007045 rdfs:label Midline brain calcifications Calcificaties van het brein in de middellijn CANDIDATE -en nl HP:0007047 rdfs:label Atrophy of the dentate nucleus Atrofie van de nucleus dentatus CANDIDATE -en nl HP:0007047 IAO:0000115 Partial or complete wasting (loss) of dentate nucleus Partial or complete wasting (loss) of dentate nucleus NOT_TRANSLATED -en nl HP:0007048 rdfs:label Large basal ganglia Grote basale ganglia CANDIDATE -en nl HP:0007048 IAO:0000115 Increased size of the basal ganglia Increased size of the basal ganglia NOT_TRANSLATED -en nl HP:0007052 rdfs:label Multifocal cerebral white matter abnormalities Multifocale cerebrale wittestofafwijkingen CANDIDATE -en nl HP:0007054 rdfs:label Proximal hyperreflexia Hyperreflexie proximaal CANDIDATE -en nl HP:0007054 IAO:0000115 Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee) Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee) NOT_TRANSLATED -en nl HP:0007057 rdfs:label Poor hand-eye coordination Slechte hand-oog coördinatie CANDIDATE -en nl HP:0007058 rdfs:label Generalized cerebral atrophy/hypoplasia Gegeneraliseerde cerebrale atrofie/hypoplasie CANDIDATE -en nl HP:0007058 IAO:0000115 Generalized atrophy or hypoplasia of the cerebrum Generalized atrophy or hypoplasia of the cerebrum NOT_TRANSLATED -en nl HP:0007063 rdfs:label Aplasia of the inferior half of the cerebellar vermis Aplasie van lagere helft van vermis CANDIDATE -en nl HP:0007064 rdfs:label Progressive language deterioration Progressieve taal achteruitgang CANDIDATE -en nl HP:0007064 IAO:0000115 Progressive loss of previously present language abilities Progressive loss of previously present language abilities NOT_TRANSLATED -en nl HP:0007065 rdfs:label Disorganization of the anterior cerebellar vermis Disorganisatie van de anterieure vermis CANDIDATE -en nl HP:0007066 rdfs:label Proximal limb muscle stiffness Proximale ledemaat spierstijfheid CANDIDATE -en nl HP:0007066 IAO:0000115 Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle NOT_TRANSLATED -en nl HP:0007067 rdfs:label Distal peripheral sensory neuropathy Distale perifere sensorische neuropathie CANDIDATE -en nl HP:0007067 IAO:0000115 Peripheral sensory neuropathy affecting primarily distal sensation Peripheral sensory neuropathy affecting primarily distal sensation NOT_TRANSLATED -en nl HP:0007068 rdfs:label Inferior cerebellar vermis hypoplasia Lagere vermis hypoplasie CANDIDATE -en nl HP:0007068 IAO:0000115 Underdevelopment of the inferior portion of the vermis of cerebellum Underdevelopment of the inferior portion of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0007069 rdfs:label Profound static encephalopathy Diepe statische encefalopathie CANDIDATE -en nl HP:0007074 rdfs:label Thick corpus callosum Dik corpus callosum CANDIDATE -en nl HP:0007074 IAO:0000115 Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain NOT_TRANSLATED -en nl HP:0007076 rdfs:label Extrapyramidal muscular rigidity Extrapyramidale musculaire rigiditeit CANDIDATE -en nl HP:0007076 IAO:0000115 Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) NOT_TRANSLATED -en nl HP:0007078 rdfs:label Decreased amplitude of sensory action potentials Verlaagde amplitude van sensorische actiepotentialen CANDIDATE -en nl HP:0007078 IAO:0000115 A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies NOT_TRANSLATED -en nl HP:0007081 rdfs:label Late-onset muscular dystrophy Late-onset musculaire dystrofie CANDIDATE -en nl HP:0007082 rdfs:label Dilated third ventricle Gedilateerd derde ventrikel CANDIDATE -en nl HP:0007082 IAO:0000115 An increase in size of the third ventricle An increase in size of the third ventricle NOT_TRANSLATED -en nl HP:0007083 rdfs:label Hyperactive patellar reflex Hyperactieve patellaire reflex CANDIDATE -en nl HP:0007086 rdfs:label Social and occupational deterioration Sociale en professionele achteruitgang CANDIDATE -en nl HP:0007089 rdfs:label Facial-lingual fasciculations Faciale-linguale fasciculaties CANDIDATE -en nl HP:0007089 IAO:0000115 Fasciculations affecting the tongue muscle and the musculature of the face Fasciculations affecting the tongue muscle and the musculature of the face NOT_TRANSLATED -en nl HP:0007096 rdfs:label Hypoplasia of the optic tract Hypoplasie van de tractus opticus CANDIDATE -en nl HP:0007097 rdfs:label Cranial nerve motor loss Motorische hersenzenuwverlamming CANDIDATE -en nl HP:0007098 rdfs:label Paroxysmal choreoathetosis Paroxysmale choreoathetose CANDIDATE -en nl HP:0007098 IAO:0000115 Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements NOT_TRANSLATED -en nl HP:0007099 rdfs:label Chiari type I malformation Arnold-Chiari type 1 malformatie CANDIDATE -en nl HP:0007099 IAO:0000115 Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) NOT_TRANSLATED -en nl HP:0007100 rdfs:label Progressive ventriculomegaly Progressieve ventriculomegalie CANDIDATE -en nl HP:0007103 rdfs:label Hypointensity of cerebral white matter on MRI Hypointensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0007103 IAO:0000115 A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter NOT_TRANSLATED -en nl HP:0007104 rdfs:label Prolonged somatosensory evoked potentials Verlengde somatosensorische opgewekte potentialen CANDIDATE -en nl HP:0007105 rdfs:label Infantile encephalopathy Infantiele encefalopathie CANDIDATE -en nl HP:0007105 IAO:0000115 Encephalopathy with onset in the infantile period Encephalopathy with onset in the infantile period NOT_TRANSLATED -en nl HP:0007107 rdfs:label Segmental peripheral demyelination Segmentale perifere demyelinisatie CANDIDATE -en nl HP:0007107 IAO:0000115 A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system NOT_TRANSLATED -en nl HP:0007108 rdfs:label Demyelinating peripheral neuropathy Demyeliniserende perifere neuropathie CANDIDATE -en nl HP:0007108 IAO:0000115 Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies NOT_TRANSLATED -en nl HP:0007109 rdfs:label Periventricular cysts Periventriculaire cysten CANDIDATE -en nl HP:0007110 rdfs:label Central hypoventilation Centrale hypoventilatie CANDIDATE -en nl HP:0007111 rdfs:label Chronic hepatic encephalopathy Chronische hepatische encefalopathie CANDIDATE -en nl HP:0007112 rdfs:label Temporal cortical atrophy Temporale corticale atrofie CANDIDATE -en nl HP:0007112 IAO:0000115 Atrophy of the temporal cortex Atrophy of the temporal cortex NOT_TRANSLATED -en nl HP:0007115 rdfs:label Orbital encephalocele Orbitale encefalocele CANDIDATE -en nl HP:0007117 rdfs:label Corticospinal tract atrophy Corticospinale baan atrofie CANDIDATE -en nl HP:0007123 rdfs:label Subcortical dementia Subcorticale dementie CANDIDATE -en nl HP:0007123 IAO:0000115 A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change NOT_TRANSLATED -en nl HP:0007126 rdfs:label Proximal amyotrophy Proximale amyotrofie CANDIDATE -en nl HP:0007126 IAO:0000115 Amyotrophy (muscular atrophy) affecting the proximal musculature Amyotrophy (muscular atrophy) affecting the proximal musculature NOT_TRANSLATED -en nl HP:0007129 rdfs:label Cerebellar medulloblastoma Cerebellair medulloblastoom CANDIDATE -en nl HP:0007131 rdfs:label Acute demyelinating polyneuropathy Acute demyeliniserende polyneuropathie CANDIDATE -en nl HP:0007131 IAO:0000115 Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration NOT_TRANSLATED -en nl HP:0007132 rdfs:label Pallidal degeneration Pallidus degeneratie CANDIDATE -en nl HP:0007132 IAO:0000115 Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement NOT_TRANSLATED -en nl HP:0007133 rdfs:label Progressive peripheral neuropathy Progressieve perifere neuropathie CANDIDATE -en nl HP:0007141 rdfs:label Sensorimotor neuropathy Sensomotorische neuropathie CANDIDATE -en nl HP:0007146 rdfs:label Bilateral basal ganglia lesions Bilaterale basale ganglia laesies CANDIDATE -en nl HP:0007149 rdfs:label Distal upper limb amyotrophy Distale bovenste extremiteit amyotrofie CANDIDATE -en nl HP:0007149 IAO:0000115 Muscular atrophy of distal arm muscles Muscular atrophy of distal arm muscles NOT_TRANSLATED -en nl HP:0007153 rdfs:label Progressive extrapyramidal movement disorder Progressieve extrapiramidale bewegingsstoornis CANDIDATE -en nl HP:0007156 rdfs:label Asymmetric limb muscle stiffness Asymmetrische spierstijfheid in ledemaat CANDIDATE -en nl HP:0007156 IAO:0000115 Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern NOT_TRANSLATED -en nl HP:0007158 rdfs:label Progressive extrapyramidal muscular rigidity Progressieve extrapiramidale musculaire rigiditeit CANDIDATE -en nl HP:0007158 IAO:0000115 A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) NOT_TRANSLATED -en nl HP:0007159 rdfs:label Fluctuations in consciousness Fluctuaties in bewustzijn CANDIDATE -en nl HP:0007162 rdfs:label Diffuse demyelination of the cerebral white matter Diffuse demyelinisatie van de cerebrale witte stof CANDIDATE -en nl HP:0007162 IAO:0000115 A diffuse loss of myelin from nerve fibers in the central nervous system A diffuse loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED -en nl HP:0007164 rdfs:label Slowed slurred speech Vertraagde onduidelijke spraak CANDIDATE -en nl HP:0007165 rdfs:label Periventricular heterotopia Periventriculaire grijze stof heterotopie CANDIDATE -en nl HP:0007165 IAO:0000115 A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass NOT_TRANSLATED -en nl HP:0007166 rdfs:label Paroxysmal dyskinesia Paroxysmale dyskinesie CANDIDATE -en nl HP:0007166 IAO:0000115 Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks NOT_TRANSLATED -en nl HP:0007178 rdfs:label Motor polyneuropathy Motore polyneuropathie CANDIDATE -en nl HP:0007179 rdfs:label Absent smooth pursuit Afwezigheid van soepele volging CANDIDATE -en nl HP:0007179 IAO:0000115 A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion NOT_TRANSLATED -en nl HP:0007181 rdfs:label Interosseus muscle atrophy Interossalepieratrofie CANDIDATE -en nl HP:0007181 IAO:0000115 Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones NOT_TRANSLATED -en nl HP:0007182 rdfs:label Peripheral hypomyelination Perifere hypomyelinisatie CANDIDATE -en nl HP:0007182 IAO:0000115 Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system NOT_TRANSLATED -en nl HP:0007183 rdfs:label Focal T2 hyperintense basal ganglia lesion Focale T2 hyperintense basale ganglia laesie CANDIDATE -en nl HP:0007183 IAO:0000115 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia NOT_TRANSLATED -en nl HP:0007185 rdfs:label Loss of consciousness Verlies van bewustzijn CANDIDATE -en nl HP:0007187 rdfs:label Focal lissencephaly Focale lissencefalie CANDIDATE -en nl HP:0007187 IAO:0000115 A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex NOT_TRANSLATED -en nl HP:0007188 rdfs:label Congenital facial diplegia Moebius syndroom CANDIDATE -en nl HP:0007188 IAO:0000115 Facial diplegia (that is, bilateral facial palsy) with congenital onset Facial diplegia (that is, bilateral facial palsy) with congenital onset NOT_TRANSLATED -en nl HP:0007190 rdfs:label Neuronal loss in the cerebral cortex Neuronaal verlies in de cerebrale cortex CANDIDATE -en nl HP:0007193 rdfs:label Bilateral tonic-clonic seizure on awakening Gegeneraliseerde tonisch-clonische aanvallen bij ontwaken CANDIDATE -en nl HP:0007193 IAO:0000115 Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day) Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day) NOT_TRANSLATED -en nl HP:0007199 rdfs:label Progressive spastic paraparesis Progressieve spastische paraparese CANDIDATE -en nl HP:0007200 rdfs:label Episodic hypersomnia Episodische hypersomnie CANDIDATE -en nl HP:0007201 rdfs:label Cerebral artery atherosclerosis Cerebrale arterie atherosclerose CANDIDATE -en nl HP:0007201 IAO:0000115 The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain NOT_TRANSLATED -en nl HP:0007204 rdfs:label Diffuse white matter abnormalities Diffuse witte stof afwijkingen CANDIDATE -en nl HP:0007206 rdfs:label Hemimegalencephaly Hemimegalencefalie CANDIDATE -en nl HP:0007206 IAO:0000115 Enlargement of all or parts of one cerebral hemisphere Enlargement of all or parts of one cerebral hemisphere NOT_TRANSLATED -en nl HP:0007207 rdfs:label Photosensitive tonic-clonic seizure Fotosensitieve tonisch-clonische insulten CANDIDATE -en nl HP:0007207 IAO:0000115 Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light NOT_TRANSLATED -en nl HP:0007208 rdfs:label Irregular myelin loops Irregulaire myeline lussen CANDIDATE -en nl HP:0007208 IAO:0000115 Presence of irregular redundant loops of focally folded myelin in a peripheral nerve Presence of irregular redundant loops of focally folded myelin in a peripheral nerve NOT_TRANSLATED -en nl HP:0007209 rdfs:label Facial paralysis Faciale paralyse CANDIDATE -en nl HP:0007209 IAO:0000115 Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve) Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve) NOT_TRANSLATED -en nl HP:0007210 rdfs:label Lower limb amyotrophy Amyotrofie van onderste ledemaat CANDIDATE -en nl HP:0007210 IAO:0000115 Muscular atrophy affecting the lower limb Muscular atrophy affecting the lower limb NOT_TRANSLATED -en nl HP:0007215 rdfs:label Periodic hyperkalemic paralysis Periodieke hyperkalemische paralyse CANDIDATE -en nl HP:0007215 IAO:0000115 Episodes of muscle weakness associated with elevated levels of potassium in the blood Episodes of muscle weakness associated with elevated levels of potassium in the blood NOT_TRANSLATED -en nl HP:0007220 rdfs:label Demyelinating motor neuropathy Demyeliniserende motorische neuropathie CANDIDATE -en nl HP:0007220 IAO:0000115 Demyelination of peripheral motor nerves Demyelination of peripheral motor nerves NOT_TRANSLATED -en nl HP:0007221 rdfs:label Progressive truncal ataxia Progressieve truncale ataxie CANDIDATE -en nl HP:0007227 rdfs:label Macrogyria Macrogyrie CANDIDATE -en nl HP:0007227 IAO:0000115 Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum NOT_TRANSLATED -en nl HP:0007229 rdfs:label Intracerebral periventricular calcifications Intracerebrale periventriculaire calcificaties CANDIDATE -en nl HP:0007229 IAO:0000115 The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles NOT_TRANSLATED -en nl HP:0007230 rdfs:label Decreased distal sensory nerve action potential Verminderd actiepotentiaal van distale sensorische zenuw CANDIDATE -en nl HP:0007230 IAO:0000115 A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies NOT_TRANSLATED -en nl HP:0007232 rdfs:label Spinocerebellar tract disease in lower limbs Spinocerebellaire baan ziekte in de onderste ledematen CANDIDATE -en nl HP:0007233 rdfs:label Clusters of axonal regeneration Clusters van axonale regeneratie CANDIDATE -en nl HP:0007233 IAO:0000115 Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration NOT_TRANSLATED -en nl HP:0007236 rdfs:label Recurrent subcortical infarcts Recidiverende subcorticale infarcten CANDIDATE -en nl HP:0040004 rdfs:label Abnormality of corneal shape Afwijking van corneale vorm CANDIDATE -en nl HP:0007238 rdfs:label Nonarteriosclerotic cerebral calcification Non-arteriosclerotische cerebrale calcificatie CANDIDATE -en nl HP:0040006 rdfs:label Mortality/Aging Mortaliteit/veroudering CANDIDATE -en nl HP:0007239 rdfs:label Congenital encephalopathy Congenitale encefalopathie CANDIDATE -en nl HP:0040007 rdfs:label Absent pigmentation of chest Afwezigheid van pigmentatie van borst CANDIDATE -en nl HP:0040007 IAO:0000115 Lack of skin pigmentation (coloring) of the chest Lack of skin pigmentation (coloring) of the chest NOT_TRANSLATED -en nl HP:0007240 rdfs:label Progressive gait ataxia Progressieve gang ataxie CANDIDATE -en nl HP:0007240 IAO:0000115 A type of gait ataxia displaying progression of clinical severity A type of gait ataxia displaying progression of clinical severity NOT_TRANSLATED -en nl HP:0040008 rdfs:label Aplasia of facial bones Aplasie van faciale botten CANDIDATE -en nl HP:0040009 rdfs:label Hyperparakeratosis Hyperparakeratose CANDIDATE -en nl HP:0040009 IAO:0000115 Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum NOT_TRANSLATED -en nl HP:0040010 rdfs:label Small posterior fossa Kleine posterieure fossa CANDIDATE -en nl HP:0040011 rdfs:label Flat posterior fossa Platte posterieure fossa CANDIDATE -en nl HP:0040012 rdfs:label Chromosome breakage Chromosomen breuk CANDIDATE -en nl HP:0040012 IAO:0000115 Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents NOT_TRANSLATED -en nl HP:0040013 rdfs:label Decreased mitochondrial number Verminderd aantal mitochondriën CANDIDATE -en nl HP:0040014 rdfs:label Increased mitochondrial number Verhoogd aantal mitochondriën CANDIDATE -en nl HP:0040015 rdfs:label Increased activity of mitochondrial respiratory chain Toegenomen activiteit van mitochondriale ademhalingsketen CANDIDATE -en nl HP:0040016 rdfs:label Prominent coccyx Prominent coccyx CANDIDATE -en nl HP:0007249 rdfs:label Decreased number of small peripheral myelinated nerve fibers Verminderd aantal kleine perifere gemyeliniseerde zenuwvezels CANDIDATE -en nl HP:0040017 rdfs:label Protruding coccyx Uitstekend coccyx CANDIDATE -en nl HP:0007250 rdfs:label Recurrent external ophthalmoplegia Recidverende externe oftalmoplegie CANDIDATE -en nl HP:0007250 IAO:0000115 Alternating and recurrent weakness of the external ocular muscles Alternating and recurrent weakness of the external ocular muscles NOT_TRANSLATED -en nl HP:0040018 rdfs:label Clinodactyly of hallux Clinodactylie van de hallux CANDIDATE -en nl HP:0040019 rdfs:label Finger clinodactyly Vinger clinodactylie CANDIDATE -en nl HP:0040020 rdfs:label Radial deviation of the 5th finger Radiale deviatie van de 5e vinger CANDIDATE -en nl HP:0040022 rdfs:label Clinodactyly of the 2nd finger Clinodactylie van de 2e vinger CANDIDATE -en nl HP:0040023 rdfs:label Clinodactyly of the thumb Clinodactylie van de duim CANDIDATE -en nl HP:0007256 rdfs:label Abnormal pyramidal sign Afwijkende piramidale tekenen CANDIDATE -en nl HP:0007256 IAO:0000115 Functional neurological abnormalities related to dysfunction of the pyramidal tract Functional neurological abnormalities related to dysfunction of the pyramidal tract NOT_TRANSLATED -en nl HP:0040024 rdfs:label Clinodactyly of the 3rd finger Clinodactylie van de 3e vinger CANDIDATE -en nl HP:0040025 rdfs:label Clinodactyly of the 4th finger Clinodactylie van de 4e vinger CANDIDATE -en nl HP:0007258 rdfs:label Severe demyelination of the white matter Ernstige demyelinisatie van de witte stof CANDIDATE -en nl HP:0007258 IAO:0000115 A severe loss of myelin from nerve fibers in the central nervous system A severe loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED -en nl HP:0007260 rdfs:label Type II lissencephaly Type II lissencefalie CANDIDATE -en nl HP:0007260 IAO:0000115 A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers NOT_TRANSLATED -en nl HP:0007262 rdfs:label Symmetric peripheral demyelination Symmetrische perifere demyelinisatie CANDIDATE -en nl HP:0007262 IAO:0000115 A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED -en nl HP:0040030 rdfs:label Chorioretinal hypopigmentation Chorioretinale hypopigmentatie CANDIDATE -en nl HP:0007263 rdfs:label Spinocerebellar atrophy Spinocerebellaire atrofie CANDIDATE -en nl HP:0007263 IAO:0000115 Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord NOT_TRANSLATED -en nl HP:0040031 rdfs:label Chorioretinal hyperpigmentation Chorioretinale hyperpigmentatie CANDIDATE -en nl HP:0040032 rdfs:label Hypoplasia of the upper eyelids Hypoplasie van de bovenste oogleden CANDIDATE -en nl HP:0007265 rdfs:label Absent mesencephalon Afwezig mesencephalon CANDIDATE -en nl HP:0007265 IAO:0000115 Agenesis of the midbrain Agenesis of the midbrain NOT_TRANSLATED -en nl HP:0040033 rdfs:label Aplasia/Hypoplasia of the fifth metatarsal bone Aplasia/Hypoplasie van het vijfde metatarsale bot CANDIDATE -en nl HP:0007266 rdfs:label Cerebral dysmyelination Cerebrale dysmyelinisatie CANDIDATE -en nl HP:0007266 IAO:0000115 Defective structure and function of myelin sheaths of the white matter of the brain Defective structure and function of myelin sheaths of the white matter of the brain NOT_TRANSLATED -en nl HP:0040034 rdfs:label Abnormality of the second metatarsal bone Afwijking van het tweede metatarsale bot CANDIDATE -en nl HP:0007267 rdfs:label Chronic axonal neuropathy Chronische axonale neuropathie CANDIDATE -en nl HP:0007267 IAO:0000115 An abnormality characterized by chronic impairment of the normal functioning of the axons An abnormality characterized by chronic impairment of the normal functioning of the axons NOT_TRANSLATED -en nl HP:0040035 rdfs:label Abnormality of the fourth metatarsal bone Afwijking van het vierde metatarsale bot CANDIDATE -en nl HP:0007268 rdfs:label Aprosencephaly Aprosencefalie CANDIDATE -en nl HP:0040036 rdfs:label Onychogryposis of fingernail Onychogrypose van vingernagel CANDIDATE -en nl HP:0040036 IAO:0000115 Thickened fingernails Thickened fingernails NOT_TRANSLATED -en nl HP:0007269 rdfs:label Spinal muscular atrophy Spinale musculaire atrofie CANDIDATE -en nl HP:0007269 IAO:0000115 Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem NOT_TRANSLATED -en nl HP:0007270 rdfs:label Atypical absence seizure Atypische absence aanvallen CANDIDATE -en nl HP:0007270 IAO:0000115 An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity NOT_TRANSLATED -en nl HP:0007271 rdfs:label Occipital myelomeningocele Occipitale myelomeningocele CANDIDATE -en nl HP:0040039 rdfs:label Onycholysis of fingernails Onycholyse van vingernagels CANDIDATE -en nl HP:0007272 rdfs:label Progressive psychomotor deterioration Progressieve psychomotorische achteruitgang CANDIDATE -en nl HP:0040040 rdfs:label Toenail onycholysis Onycholyse van teennagels CANDIDATE -en nl HP:0040040 IAO:0000115 Painless and spontaneous separation of a toenail from the nail bed Painless and spontaneous separation of a toenail from the nail bed NOT_TRANSLATED -en nl HP:0007274 rdfs:label Recurrent bacterial meningitis Recidiverende bacteriële meningitis CANDIDATE -en nl HP:0007274 IAO:0000115 An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis NOT_TRANSLATED -en nl HP:0040042 rdfs:label Aplasia of the eccrine sweat glands Aplasie van de eccriene zweetklieren CANDIDATE -en nl HP:0040043 rdfs:label Hypoplasia of the eccrine sweat glands Hypoplasie van de eccriene zweetklieren CANDIDATE -en nl HP:0040044 rdfs:label Hypoplasia of the diaphragm Hypoplasie van het diafragma CANDIDATE -en nl HP:0007277 rdfs:label Paucity of anterior horn motor neurons Gebrek aan motorische neuronen van de voorhoorn CANDIDATE -en nl HP:0040045 rdfs:label Abnormal hemidiaphragm morphology Afwijking van de hemidiafragma's CANDIDATE -en nl HP:0040046 rdfs:label Abnormal left hemidiaphragm morphology Afwijking van het linker hemidiafragma CANDIDATE -en nl HP:0040047 rdfs:label Abnormal right hemidiaphragm morphology Afwijking van het rechter hemidiafragma CANDIDATE -en nl HP:0007280 rdfs:label Acute infantile spinal muscular atrophy Acute infantiele spinale musculaire atrofie CANDIDATE -en nl HP:0007281 rdfs:label Developmental stagnation Stagnatie van ontwikkeling CANDIDATE -en nl HP:0007281 IAO:0000115 A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills NOT_TRANSLATED -en nl HP:0040049 rdfs:label Macular edema Macula oedeem CANDIDATE -en nl HP:0040049 IAO:0000115 Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease NOT_TRANSLATED -en nl HP:0040050 rdfs:label Sparse upper eyelashes Spaarzame bovenste wimpers CANDIDATE -en nl HP:0040051 rdfs:label Abnormality of upper eyelashes Afwijking van de bovenste wimpers CANDIDATE -en nl HP:0040052 rdfs:label Abnormality of lower eyelashes Afwijking van de onderste wimpers CANDIDATE -en nl HP:0007285 rdfs:label Facial palsy secondary to cranial hyperostosis Faciale parese secundair aan craniale hyperostose CANDIDATE -en nl HP:0007285 IAO:0000115 Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve NOT_TRANSLATED -en nl HP:0040053 rdfs:label Long lower eyelashes Lange onderste wimpers CANDIDATE -en nl HP:0007286 rdfs:label Horizontal jerk nystagmus Horizontal jerk nystagmus NOT_TRANSLATED -en nl HP:0007286 IAO:0000115 Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other NOT_TRANSLATED -en nl HP:0040054 rdfs:label Short upper eyelashes Korte bovenste wimpers CANDIDATE -en nl HP:0040055 rdfs:label Short lower eyelashes Korte onderste wimpers CANDIDATE -en nl HP:0040056 rdfs:label Absent upper eyelashes Afwezige bovenste wimpers CANDIDATE -en nl HP:0007289 rdfs:label Limb fasciculations Fasciculaties van de ledematen CANDIDATE -en nl HP:0007289 IAO:0000115 Fasciculations affecting the musculature of the arms and legs Fasciculations affecting the musculature of the arms and legs NOT_TRANSLATED -en nl HP:0040057 rdfs:label Abnormality of nasal hair Afwijking van nasale haar CANDIDATE -en nl HP:0007291 rdfs:label Posterior fossa cyst Posterieure fossa cyste CANDIDATE -en nl HP:0007291 IAO:0000115 A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle NOT_TRANSLATED -en nl HP:0040059 rdfs:label Calcification of ribs Calcificaties van de ribben CANDIDATE -en nl HP:0007293 rdfs:label Anterior sacral meningocele Anterieure sacrale meningocele CANDIDATE -en nl HP:0040061 rdfs:label Osteosclerosis of the radius Osteosclerose van de radius CANDIDATE -en nl HP:0040062 rdfs:label Slender radius Slanke radius CANDIDATE -en nl HP:0007295 rdfs:label Chaotic rapid conjugate ocular movements Chaotische snelle geconjugeerde oogbewegingen CANDIDATE -en nl HP:0040063 rdfs:label Decreased adipose tissue Verminderd vetweefsel CANDIDATE -en nl HP:0040064 rdfs:label Abnormality of limbs Afwijking van ledematen CANDIDATE -en nl HP:0007299 rdfs:label Dysfunction of lateral corticospinal tracts Dsyfunctie van laterale corticospinale banen CANDIDATE -en nl HP:0040068 rdfs:label Abnormality of limb bone Afwijking van bot van ledemaat CANDIDATE -en nl HP:0007301 rdfs:label Oromotor apraxia Oromotorische apraxie CANDIDATE -en nl HP:0007301 IAO:0000115 Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control NOT_TRANSLATED -en nl HP:0040069 rdfs:label Abnormal lower limb bone morphology Afwijking van bot van onderste ledemaat CANDIDATE -en nl HP:0007302 rdfs:label Bipolar affective disorder Bipolaire stoornis CANDIDATE -en nl HP:0040070 rdfs:label Abnormal upper limb bone morphology Afwijking van bot van bovenste ledemaat CANDIDATE -en nl HP:0040071 rdfs:label Abnormal morphology of ulna Afwijkende morfologie van ulna CANDIDATE -en nl HP:0040071 IAO:0000115 Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger NOT_TRANSLATED -en nl HP:0040072 rdfs:label Abnormal forearm bone morphology Afwijking van bot van onderarm CANDIDATE -en nl HP:0007305 rdfs:label CNS demyelination CZS demyelinisatie CANDIDATE -en nl HP:0007305 IAO:0000115 A loss of myelin from nerve fibers in the central nervous system A loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED -en nl HP:0007307 rdfs:label Rapid neurologic deterioration Snelle neurologische achteruitgang CANDIDATE -en nl HP:0040075 rdfs:label Hypopituitarism Hypopituïtarisme CANDIDATE -en nl HP:0007308 rdfs:label Extrapyramidal dyskinesia Extrapyramidale dyskinesie CANDIDATE -en nl HP:0040078 rdfs:label Axonal degeneration Axonale degeneratie CANDIDATE -en nl HP:0007311 rdfs:label Short stepped shuffling gait Schuifelende gang met kleine stappen CANDIDATE -en nl HP:0040079 rdfs:label Irregular dentition Irregulair dentitie CANDIDATE -en nl HP:0040080 rdfs:label Anteverted ears Anteverted ears NOT_TRANSLATED -en nl HP:0007313 rdfs:label Cerebral degeneration Cerebrale degeneratie CANDIDATE -en nl HP:0040081 rdfs:label Abnormal circulating creatine kinase concentration Afwijkende concentratie van creatine kinase in bloed CANDIDATE -en nl HP:0040081 IAO:0000115 Any deviation from the normal circulating creatine kinase concentration Any deviation from the normal circulating creatine kinase concentration NOT_TRANSLATED -en nl HP:0040082 rdfs:label Happy demeanor Gelukkig gedrag CANDIDATE -en nl HP:0040082 IAO:0000115 A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context NOT_TRANSLATED -en nl HP:0040084 rdfs:label Abnormal circulating renin Afwijking van circulerend renine niveau CANDIDATE -en nl HP:0040084 IAO:0000115 A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions NOT_TRANSLATED -en nl HP:0040085 rdfs:label Abnormal circulating aldosterone Afwijking van circulerend aldosteron niveau CANDIDATE -en nl HP:0040086 rdfs:label Abnormal prolactin level Afwijking van prolactine niveau CANDIDATE -en nl HP:0040087 rdfs:label Abnormal blood folate concentration Afwijking van foliumzuur in bloed CANDIDATE -en nl HP:0040087 IAO:0000115 Any deviation from the normal concentration of folate in the blood circulation Any deviation from the normal concentration of folate in the blood circulation NOT_TRANSLATED -en nl HP:0040088 rdfs:label Abnormal lymphocyte count Afwijkend lymfocyten aantal CANDIDATE -en nl HP:0040088 IAO:0000115 Any abnormality in the total number of lymphocytes in the blood Any abnormality in the total number of lymphocytes in the blood NOT_TRANSLATED -en nl HP:0007321 rdfs:label Deep white matter hypodensities Diepe witte stof hypodensiteiten CANDIDATE -en nl HP:0007321 IAO:0000115 Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter NOT_TRANSLATED -en nl HP:0040089 rdfs:label Abnormal natural killer cell count Afwijkend aantal natural killer cellen CANDIDATE -en nl HP:0040089 IAO:0000115 Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes NOT_TRANSLATED -en nl HP:0040090 rdfs:label Abnormality of the tympanic membrane Afwijking van het trommelvlies CANDIDATE -en nl HP:0040090 IAO:0000115 An abnormality of the tympanic membrane An abnormality of the tympanic membrane NOT_TRANSLATED -en nl HP:0040091 rdfs:label Asymmetry of the size of ears Asymmetrie van de grootte van de oren CANDIDATE -en nl HP:0040092 rdfs:label Asymmetry of the shape of the ears Asymmetrie van de vorm van de oren CANDIDATE -en nl HP:0007325 rdfs:label Generalized dystonia Gegeneraliseerde dystonie CANDIDATE -en nl HP:0007325 IAO:0000115 A type of dystonia that affects all or most of the body A type of dystonia that affects all or most of the body NOT_TRANSLATED -en nl HP:0040093 rdfs:label Asymmetry of the position of the ears Asymmetrie van de positie van de oren CANDIDATE -en nl HP:0007326 rdfs:label Progressive choreoathetosis Progressieve choreoathetose CANDIDATE -en nl HP:0007327 rdfs:label Mixed demyelinating and axonal polyneuropathy Gemengde demyeliniserende- en axonale polyneuropathie CANDIDATE -en nl HP:0040095 rdfs:label Neoplasm of the outer ear Neoplasma van het uitwendige oor CANDIDATE -en nl HP:0040095 IAO:0000115 A tumor (abnormal growth of tissue) of the outer ear A tumor (abnormal growth of tissue) of the outer ear NOT_TRANSLATED -en nl HP:0007328 rdfs:label Impaired pain sensation Verminderde pijn sensatie CANDIDATE -en nl HP:0007328 IAO:0000115 Reduced ability to perceive painful stimuli Reduced ability to perceive painful stimuli NOT_TRANSLATED -en nl HP:0040096 rdfs:label Neoplasm of the inner ear Neoplasma van het binnenoor CANDIDATE -en nl HP:0040096 IAO:0000115 A tumor (abnormal growth of tissue) of the inner ear A tumor (abnormal growth of tissue) of the inner ear NOT_TRANSLATED -en nl HP:0040097 rdfs:label Neoplasm of the ceruminal gland Neoplasma van de oorsmeerklier CANDIDATE -en nl HP:0040097 IAO:0000115 A tumor (abnormal growth of tissue) of the ceruminal gland A tumor (abnormal growth of tissue) of the ceruminal gland NOT_TRANSLATED -en nl HP:0007330 rdfs:label Frontal encephalocele Frontale encefalocele CANDIDATE -en nl HP:0040098 rdfs:label Basalioma of the outer ear Basalioom van het uitwendige oor CANDIDATE -en nl HP:0040099 rdfs:label Abnormality of the round window Afwijking van het ronde venster CANDIDATE -en nl HP:0007332 rdfs:label Focal hemifacial clonic seizure Hemifaciale spasmen CANDIDATE -en nl HP:0007332 IAO:0000115 Focal seizure characterized at onset by clonic movements affecting half of the face Focal seizure characterized at onset by clonic movements affecting half of the face NOT_TRANSLATED -en nl HP:0040100 rdfs:label Abnormality of the vestibular window Afwijking van het vestibulair venster CANDIDATE -en nl HP:0007333 rdfs:label Hypoplasia of the frontal lobes Hypoplasie van de frontale kwabben CANDIDATE -en nl HP:0007333 IAO:0000115 Underdevelopment of the frontal lobe of the cerebrum Underdevelopment of the frontal lobe of the cerebrum NOT_TRANSLATED -en nl HP:0040101 rdfs:label Cutaneous atresia of the external auditory canal Cutane atresie van de externe gehoorgang CANDIDATE -en nl HP:0007334 rdfs:label Bilateral tonic-clonic seizure with focal onset Gegeneraliseerde tonisch-clonische aanvallen met focaal begin CANDIDATE -en nl HP:0007334 IAO:0000115 A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase NOT_TRANSLATED -en nl HP:0040102 rdfs:label Osseous atresia of the external auditory canal Ossale atresie van externe gehoorgang CANDIDATE -en nl HP:0007335 rdfs:label Recurrent encephalopathy Recidiverende encefalopathie CANDIDATE -en nl HP:0007335 IAO:0000115 Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections NOT_TRANSLATED -en nl HP:0040103 rdfs:label Cutaneous stenosis of the external auditory canal Cutane stenose van de externe gehoorgang CANDIDATE -en nl HP:0040104 rdfs:label Osseous stenosis of the external auditory canal Ossale stenose van de externe gehoorgang CANDIDATE -en nl HP:0007338 rdfs:label Hypermetric saccades Hypermetrische saccades CANDIDATE -en nl HP:0007338 IAO:0000115 A saccade that overshoots the target with the dynamic saccade A saccade that overshoots the target with the dynamic saccade NOT_TRANSLATED -en nl HP:0040106 rdfs:label Morphological abnormality of the lateral semicircular canal Morfologische afwijkingen van het laterale semicirculaire kanaal CANDIDATE -en nl HP:0040107 rdfs:label Morphological abnormality of the posterior semicircular canal Morfologische afwijkingen van het posterieure semicirculaire kanaal CANDIDATE -en nl HP:0007340 rdfs:label Lower limb muscle weakness Spierzwakte van onderste ledemaat CANDIDATE -en nl HP:0007340 IAO:0000115 Weakness of the muscles of the legs Weakness of the muscles of the legs NOT_TRANSLATED -en nl HP:0040108 rdfs:label Morphological abnormality of the anterior semicircular canal Morfologische afwijking van het anterieure semicirculaire kanaal CANDIDATE -en nl HP:0007341 rdfs:label Diffuse swelling of cerebral white matter Diffuse zwelling van de cerebrale witte stof CANDIDATE -en nl HP:0040109 rdfs:label Morphological abnormality of the utricle Morfologische afwijkingen van de utriculus CANDIDATE -en nl HP:0040110 rdfs:label Morphological abnormality of the saccule Morfologische afwijking van de sacculus CANDIDATE -en nl HP:0007343 rdfs:label Abnormal morphology of the limbic system Afwijkende morfologie van het limbisch systeem CANDIDATE -en nl HP:0007343 IAO:0000115 Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex] Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex] NOT_TRANSLATED -en nl HP:0007344 rdfs:label Atrophy/Degeneration involving the spinal cord Atrofie/Degeneratie waarbij het ruggenmerg betrokken is CANDIDATE -en nl HP:0040112 rdfs:label Abnormal number of tubercles Afwijkend aantal tuberkels CANDIDATE -en nl HP:0040113 rdfs:label Old-aged sensorineural hearing impairment Perceptieve slechthorendheid horend bij oude leeftijd CANDIDATE -en nl HP:0007346 rdfs:label Subcortical white matter calcifications Subcorticale witte stof calcificaties CANDIDATE -en nl HP:0040114 rdfs:label Absence of the reflex of the tensor tympani muscle Afwezige reflex van de musculus tensor tympani CANDIDATE -en nl HP:0040115 rdfs:label Abnormal Eustachian tube morphology Afwijking van de buis van Eustachius CANDIDATE -en nl HP:0040115 IAO:0000115 A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders NOT_TRANSLATED -en nl HP:0007348 rdfs:label Hypoplasia of the pyramidal tract Hypoplasie van de pyramidebaan CANDIDATE -en nl HP:0040116 rdfs:label Aplasia of the Eustachian tube Aplasie van de buis van Eustachius CANDIDATE -en nl HP:0040117 rdfs:label Atresia of the Eustachian tube Atresie van de buis van Eustachius CANDIDATE -en nl HP:0007350 rdfs:label Hyperreflexia in upper limbs Hyperreflexie van bovenste ledematen CANDIDATE -en nl HP:0040118 rdfs:label Stenosis of the Eustachian tube Stenose van de buis van Eustachius CANDIDATE -en nl HP:0007351 rdfs:label Upper limb postural tremor Posturale tremor van bovenste ledemaat CANDIDATE -en nl HP:0007351 IAO:0000115 A type of tremors that is triggered by holding an arm in a fixed position A type of tremors that is triggered by holding an arm in a fixed position NOT_TRANSLATED -en nl HP:0040119 rdfs:label Unilateral conductive hearing impairment Unilateraal conductief gehoorverlies CANDIDATE -en nl HP:0007352 rdfs:label Cerebellar calcifications Cerebellaire calcificaties CANDIDATE -en nl HP:0040120 rdfs:label Abnormality of the reflex of the tensor tympani muscle Afwijkende reflex van de musculus tensor tympani CANDIDATE -en nl HP:0040121 rdfs:label Abnormality of the acoustic reflex Afwijking van de akoestische reflex CANDIDATE -en nl HP:0040121 IAO:0000115 An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation NOT_TRANSLATED -en nl HP:0007354 rdfs:label Amyotrophic lateral sclerosis Amyotrofische laterale sclerose CANDIDATE -en nl HP:0040122 rdfs:label Impairment of the the acoustic reflex Verslechtering van de akoestische reflex CANDIDATE -en nl HP:0040123 rdfs:label Impairment of the reflex of the tensor tympani muscle Aantasting van de reflex van de musculus tensor tympani CANDIDATE -en nl HP:0040126 rdfs:label Abnormal vitamin B12 level Afwijkend vitamine B12 niveau CANDIDATE -en nl HP:0040126 IAO:0000115 A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins NOT_TRANSLATED -en nl HP:0007359 rdfs:label Focal-onset seizure Focale insulten CANDIDATE -en nl HP:0007359 IAO:0000115 A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures NOT_TRANSLATED -en nl HP:0040127 rdfs:label Abnormal sweat homeostasis Afwijkende zweet homeostase CANDIDATE -en nl HP:0040127 IAO:0000115 An abnormality of the composition of sweat or the levels of its components An abnormality of the composition of sweat or the levels of its components NOT_TRANSLATED -en nl HP:0007360 rdfs:label Aplasia/Hypoplasia of the cerebellum Aplasia/hypoplasie van het cerebellum CANDIDATE -en nl HP:0040128 rdfs:label Abnormal sweat electrolytes Afwijkende zweet elektrolyten CANDIDATE -en nl HP:0007361 rdfs:label Abnormal pons morphology Afwijking van de pons CANDIDATE -en nl HP:0007361 IAO:0000115 A structural abnormality of the pons A structural abnormality of the pons NOT_TRANSLATED -en nl HP:0040129 rdfs:label Abnormal nerve conduction velocity Afwijkende zenuwgeleidingssnelheid CANDIDATE -en nl HP:0007362 rdfs:label Aplasia/Hypoplasia of the brainstem Aplasia/hypoplasie van de hersenstam CANDIDATE -en nl HP:0040130 rdfs:label Abnormal serum iron concentration Afwijkend serum ijzer CANDIDATE -en nl HP:0007363 rdfs:label Aplasia/Hypoplasia of the pyramidal tract Aplasie/hypoplasie van de pyramidebaan CANDIDATE -en nl HP:0040131 rdfs:label Abnormal motor nerve conduction velocity Afwijkende motorische zenuwgeleidingssnelheid CANDIDATE -en nl HP:0007364 rdfs:label Aplasia/Hypoplasia of the cerebrum Aplasia/hypoplasie van het cerebrum CANDIDATE -en nl HP:0040132 rdfs:label Abnormal sensory nerve conduction velocity Afwijkende sensorische zenuwgeleidingssnelheid CANDIDATE -en nl HP:0007365 rdfs:label Aplasia/Hypoplasia involving the corticospinal tracts Aplasia/hypoplasie waarbij de corticospinale banen betrokken zijn CANDIDATE -en nl HP:0040133 rdfs:label Abnormal circulating ferritin concentration Afwijkend serum ferritine CANDIDATE -en nl HP:0040133 IAO:0000115 A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma NOT_TRANSLATED -en nl HP:0007366 rdfs:label Atrophy/Degeneration affecting the brainstem Atrofie/degeneratie van de hersenstam CANDIDATE -en nl HP:0040134 rdfs:label Abnormal hepatic iron concentration Afwijkende concentratie van hepatisch ijzer CANDIDATE -en nl HP:0007367 rdfs:label Atrophy/Degeneration affecting the central nervous system Atrofie/degeneratie van het centrale zenuwstelsel CANDIDATE -en nl HP:0040135 rdfs:label Abnormal transferrin saturation Afwijkende transferrine saturatie CANDIDATE -en nl HP:0040135 IAO:0000115 Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity NOT_TRANSLATED -en nl HP:0007369 rdfs:label Atrophy/Degeneration affecting the cerebrum Atrofie/degeneratie van het cerebrum CANDIDATE -en nl HP:0007369 IAO:0000115 The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain NOT_TRANSLATED -en nl HP:0040137 rdfs:label Comedonal acne Acné comedonica CANDIDATE -en nl HP:0040137 IAO:0000115 A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules NOT_TRANSLATED -en nl HP:0007370 rdfs:label Aplasia/Hypoplasia of the corpus callosum Aplasie/Hypoplasie van het corpus callosum CANDIDATE -en nl HP:0007370 IAO:0000115 Absence or underdevelopment of the corpus callosum Absence or underdevelopment of the corpus callosum NOT_TRANSLATED -en nl HP:0040138 rdfs:label Mucinous histiocytosis Mucineuze histiocytose CANDIDATE -en nl HP:0040138 IAO:0000115 Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone NOT_TRANSLATED -en nl HP:0007371 rdfs:label Corpus callosum atrophy Corpus callosum atrofie CANDIDATE -en nl HP:0007371 IAO:0000115 The presence of atrophy (wasting) of the corpus callosum The presence of atrophy (wasting) of the corpus callosum NOT_TRANSLATED -en nl HP:0040139 rdfs:label Lipogranulomatosis Lipogranulomatose CANDIDATE -en nl HP:0040139 IAO:0000115 Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions NOT_TRANSLATED -en nl HP:0007372 rdfs:label Atrophy/Degeneration involving the corticospinal tracts Atrofie/degeneratie waarbij de corticospinale banen betrokken zijn CANDIDATE -en nl HP:0040140 rdfs:label Degeneration of the striatum Degeneratie van het striatum CANDIDATE -en nl HP:0007373 rdfs:label Motor neuron atrophy Motor neuron atrofie CANDIDATE -en nl HP:0007373 IAO:0000115 Wasting involving the motor neuron Wasting involving the motor neuron NOT_TRANSLATED -en nl HP:0040141 rdfs:label Tardive dyskinesia Tardieve dyskinesie CANDIDATE -en nl HP:0007374 rdfs:label Atrophy/Degeneration involving the caudate nucleus Atrofie/Degeneratie waarbij de nucleus caudatus betrokken is CANDIDATE -en nl HP:0040142 rdfs:label Reduced 5-oxoprolinase level 5-oxoprolinase deficiëntie CANDIDATE -en nl HP:0040142 IAO:0000115 Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate NOT_TRANSLATED -en nl HP:0007375 rdfs:label Abnormal septum pellucidum morphology Afwijking van het septum pellucidum CANDIDATE -en nl HP:0007375 IAO:0000115 An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain NOT_TRANSLATED -en nl HP:0040143 rdfs:label Dystopic os odontoideum Dystopisch os odontoideum CANDIDATE -en nl HP:0040143 IAO:0000115 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus NOT_TRANSLATED -en nl HP:0007376 rdfs:label Abnormal choroid plexus morphology Afwijking van de plexus choroideus CANDIDATE -en nl HP:0007376 IAO:0000115 An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells NOT_TRANSLATED -en nl HP:0040144 rdfs:label L-2-hydroxyglutaric aciduria L-2-hydroxyglutaarzuuracidurie CANDIDATE -en nl HP:0040144 IAO:0000115 An increase in the level of L-2-hydroxyglutaric acid in the urine An increase in the level of L-2-hydroxyglutaric acid in the urine NOT_TRANSLATED -en nl HP:0007377 rdfs:label Abnormality of somatosensory evoked potentials Afwijking van somatosensorische opgewekte potentialen CANDIDATE -en nl HP:0007377 IAO:0000115 An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex NOT_TRANSLATED -en nl HP:0040145 rdfs:label Dicarboxylic acidemia Dicarboxylische acidemie CANDIDATE -en nl HP:0007378 rdfs:label Neoplasm of the gastrointestinal tract Neoplasma van het gastro-instestinale stelsel CANDIDATE -en nl HP:0007378 IAO:0000115 A tumor (abnormal growth of tissue) of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0040146 rdfs:label D-2-hydroxyglutaric acidemia D-2-hydroxyglutaarzuuracidemie CANDIDATE -en nl HP:0007379 rdfs:label Neoplasm of the genitourinary tract Neoplasma van het urogenitale stelsel CANDIDATE -en nl HP:0007379 IAO:0000115 A tumor (abnormal growth of tissue) of the genitourinary system A tumor (abnormal growth of tissue) of the genitourinary system NOT_TRANSLATED -en nl HP:0040147 rdfs:label L-2-hydroxyglutaric acidemia L-2-hydroxyglutaarzuuracidemie CANDIDATE -en nl HP:0007380 rdfs:label Facial telangiectasia Faciale teleangiëctasieën CANDIDATE -en nl HP:0007380 IAO:0000115 Telangiectases (small dilated blood vessels) located near the surface of the skin of the face Telangiectases (small dilated blood vessels) located near the surface of the skin of the face NOT_TRANSLATED -en nl HP:0040148 rdfs:label Cortical myoclonus Corticale myoclonus CANDIDATE -en nl HP:0040148 IAO:0000115 Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic) Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic) NOT_TRANSLATED -en nl HP:0007381 rdfs:label Congenital exfoliative erythroderma Congenitale exfoliatieve erytrodermie CANDIDATE -en nl HP:0040149 rdfs:label Woolly scalp hair Wollig hoofdhaar CANDIDATE -en nl HP:0040149 IAO:0000115 The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED -en nl HP:0040150 rdfs:label Epiblepharon of upper lid Epiblepharon van bovenste ooglid CANDIDATE -en nl HP:0007383 rdfs:label Congenital localized absence of skin Congenitale lokale afwezigheid van huid CANDIDATE -en nl HP:0040151 rdfs:label Epiblepharon of lower lid Epiblepharon van onderste ooglid CANDIDATE -en nl HP:0007384 rdfs:label Aberrant melanosome maturation Aberrante melanosoom maturatie CANDIDATE -en nl HP:0007385 rdfs:label Aplasia cutis congenita of scalp Aplasia cutis congenita van hoofdhuid CANDIDATE -en nl HP:0007385 IAO:0000115 A developmental defect resulting in the congenital absence of skin on the scalp A developmental defect resulting in the congenital absence of skin on the scalp NOT_TRANSLATED -en nl HP:0040154 rdfs:label Acne inversa Acne inversa CANDIDATE -en nl HP:0040154 IAO:0000115 A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses NOT_TRANSLATED -en nl HP:0007387 rdfs:label Hypoplastic sweat glands Hypoplastische zweetklieren CANDIDATE -en nl HP:0007387 IAO:0000115 Underdevelopment of the sweat glands Underdevelopment of the sweat glands NOT_TRANSLATED -en nl HP:0040155 rdfs:label Elevated urinary 3-hydroxybutyric acid Verhoogd urine 3-hydroxybutyraat zuur CANDIDATE -en nl HP:0040155 IAO:0000115 An increased amount of 3-hydroxybutyric acid in the urine An increased amount of 3-hydroxybutyric acid in the urine NOT_TRANSLATED -en nl HP:0040156 rdfs:label Elevated urinary carboxylic acid Verhoogd carbonzuur in urine CANDIDATE -en nl HP:0040156 IAO:0000115 An increased amount of carboxylic acid in the urine An increased amount of carboxylic acid in the urine NOT_TRANSLATED -en nl HP:0040157 rdfs:label Abnormal intermamillary distance Afwijkende intermamillaire afstand CANDIDATE -en nl HP:0007390 rdfs:label Hyperkeratosis with erythema Hyperkeratose met erytheem CANDIDATE -en nl HP:0040158 rdfs:label Short intermamillary distance Korte intermamillaire afstand CANDIDATE -en nl HP:0040159 rdfs:label Abnormal spaced incisors Abnormaal uit elkaar geplaatste snijtanden CANDIDATE -en nl HP:0007392 rdfs:label Excessive wrinkled skin Overmatige gerimpelde huid CANDIDATE -en nl HP:0040160 rdfs:label Generalized osteoporosis Gegeneraliseerde osteoporose CANDIDATE -en nl HP:0040161 rdfs:label Localized osteoporosis Gelokaliseerde osteoporose CANDIDATE -en nl HP:0007394 rdfs:label Prominent superficial blood vessels Prominente oppervlakkige bloedvaten CANDIDATE -en nl HP:0040162 rdfs:label Orthokeratosis Orthokeratose CANDIDATE -en nl HP:0040162 IAO:0000115 Formation of an anuclear keratin layer Formation of an anuclear keratin layer NOT_TRANSLATED -en nl HP:0007395 rdfs:label Postnatal-onset ichthyosiform erythroderma Postnatale-onset ichthyosiforme erytrodermie CANDIDATE -en nl HP:0007395 IAO:0000115 A type of ichthyosiform erythroderma with postnatal onset A type of ichthyosiform erythroderma with postnatal onset NOT_TRANSLATED -en nl HP:0040163 rdfs:label Abnormal pelvis bone morphology Afwijkende bekkenbot morfologie CANDIDATE -en nl HP:0007396 rdfs:label Early cutaneous photosensitivity Vroege cutane fotosensitiviteit CANDIDATE -en nl HP:0007396 IAO:0000115 Photosensitivity of the skin occurring early in life Photosensitivity of the skin occurring early in life NOT_TRANSLATED -en nl HP:0040164 rdfs:label Lipomas of eyelids Lipomen van bovenste oogleden CANDIDATE -en nl HP:0040164 IAO:0000115 Fatty tumors on the eyelids Fatty tumors on the eyelids NOT_TRANSLATED -en nl HP:0007397 rdfs:label Axillary apocrine gland hypoplasia Hypoplasie van de axillaire apocrine klier CANDIDATE -en nl HP:0007397 IAO:0000115 Developmental hypoplasia of the apocrine sweat glands in the region of the axilla Developmental hypoplasia of the apocrine sweat glands in the region of the axilla NOT_TRANSLATED -en nl HP:0040165 rdfs:label Periostitis Periostitis CANDIDATE -en nl HP:0040165 IAO:0000115 Inflammation of the periosteum Inflammation of the periosteum NOT_TRANSLATED -en nl HP:0007398 rdfs:label Asymmetric, linear skin defects Asymmetrische, lineaire huid defecten CANDIDATE -en nl HP:0040167 rdfs:label Facial papilloma Facial papilloom CANDIDATE -en nl HP:0007400 rdfs:label Irregular hyperpigmentation Irregulaire hyperpigmentatie CANDIDATE -en nl HP:0007401 rdfs:label Macular atrophy Atrofie van de macula CANDIDATE -en nl HP:0007401 IAO:0000115 Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss NOT_TRANSLATED -en nl HP:0040169 rdfs:label Loose anagen hair Loose anagen hair CANDIDATE -en nl HP:0007402 rdfs:label Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Gebieden van hypopigmentatie en hyperpigmentatie die geen Blaschko lijnen volgen CANDIDATE -en nl HP:0040170 rdfs:label Abnormality of hair growth Afwijkening van haargroei CANDIDATE -en nl HP:0007403 rdfs:label Hypertrophy of skin of soles Hypertrofie van huid van zolen CANDIDATE -en nl HP:0040171 rdfs:label Decreased serum testosterone concentration Verminderd serum testosteron niveau CANDIDATE -en nl HP:0007404 rdfs:label Nonepidermolytic palmoplantar hyperkeratosis Non-epidermolytische palmoplantaire keratodermie CANDIDATE -en nl HP:0007404 IAO:0000115 Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis NOT_TRANSLATED -en nl HP:0040172 rdfs:label Abnormality of occipitofrontalis muscle Afwijking van musculus occipitofrontalis CANDIDATE -en nl HP:0040173 rdfs:label Abnormality of the tongue muscle Afwijking van de tong-spier CANDIDATE -en nl HP:0007406 rdfs:label Hyperpigmentation of eyelids Hyperpigmentatie van oogleden CANDIDATE -en nl HP:0040174 rdfs:label Abnormality of extrinsic muscle of tongue Afwijking van de extrinsieke tongspieren CANDIDATE -en nl HP:0007407 rdfs:label Excessive skin wrinkling on dorsum of hands and fingers Buitensporige rimpels van de huid op dorsum van handen en vingers CANDIDATE -en nl HP:0040175 rdfs:label Platelet-activating factor acetylhydrolase deficiency Platelet-activating factor acetylhydrolase deficiëntie CANDIDATE -en nl HP:0040175 IAO:0000115 Reduced level of platelet-activating factor acetylhydrolase Reduced level of platelet-activating factor acetylhydrolase NOT_TRANSLATED -en nl HP:0007408 rdfs:label Tegumentary leishmaniasis susceptibility Gevoeligheid voor tegumentary leishmaniasis CANDIDATE -en nl HP:0007408 IAO:0000115 Increased susceptibility to infection by the protozan parasite of the genus Leishmania Increased susceptibility to infection by the protozan parasite of the genus Leishmania NOT_TRANSLATED -en nl HP:0040176 rdfs:label Abnormal circulating phospholipid concentration Afwijkend niveau van fosfolipiden CANDIDATE -en nl HP:0040176 IAO:0000115 Any deviation from the normal concentration of a phospholipid in the blood circulation Any deviation from the normal concentration of a phospholipid in the blood circulation NOT_TRANSLATED -en nl HP:0040177 rdfs:label Abnormal level of platelet-activating factor Afwijkend niveau van platelet-activating factor CANDIDATE -en nl HP:0007410 rdfs:label Palmoplantar hyperhidrosis Palmoplantaire hyperhidrosis CANDIDATE -en nl HP:0007410 IAO:0000115 An abnormally increased perspiration on palms and soles An abnormally increased perspiration on palms and soles NOT_TRANSLATED -en nl HP:0040178 rdfs:label Increased level of platelet-activating factor Toegenomen niveau van platelet-activating factor CANDIDATE -en nl HP:0007411 rdfs:label Hypoplastic-absent sebaceous glands Hypoplastische-afwezige talgklieren CANDIDATE -en nl HP:0040179 rdfs:label Decreased level of platelet-activating factor Verminderd niveau van platelet-activating factor CANDIDATE -en nl HP:0007412 rdfs:label Macular hyperpigmented dermopathy Gehyperpigmenteerde dermopathie van macula CANDIDATE -en nl HP:0007413 rdfs:label Nevus flammeus of the forehead Naevus flammeus van het voorhoofd CANDIDATE -en nl HP:0007413 IAO:0000115 Naevus flammeus localised in the skin of the forehead Naevus flammeus localised in the skin of the forehead NOT_TRANSLATED -en nl HP:0040181 rdfs:label Chapped lip Schrale lip CANDIDATE -en nl HP:0040181 IAO:0000115 Cracking, fissuring, and peeling of the skin of the lips Cracking, fissuring, and peeling of the skin of the lips NOT_TRANSLATED -en nl HP:0007414 rdfs:label Neonatal wrinkled skin of hands and feet Neonatale gerimpelde huid van handen en voeten CANDIDATE -en nl HP:0040182 rdfs:label Inappropriate sinus tachycardia Ongepaste sinus tachycardie CANDIDATE -en nl HP:0040182 IAO:0000115 Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands NOT_TRANSLATED -en nl HP:0040183 rdfs:label Encopresis Encoprese CANDIDATE -en nl HP:0040184 rdfs:label Oral bleeding Orale bloeding CANDIDATE -en nl HP:0007417 rdfs:label Discoid lupus rash Discoïde lupusuitslag CANDIDATE -en nl HP:0007417 IAO:0000115 Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy NOT_TRANSLATED -en nl HP:0040185 rdfs:label Macrothrombocytopenia Macrotrombocytopenie CANDIDATE -en nl HP:0007418 rdfs:label Alopecia totalis Alopecia totalis CANDIDATE -en nl HP:0007418 IAO:0000115 Loss of all scalp hair Loss of all scalp hair NOT_TRANSLATED -en nl HP:0040186 rdfs:label Maculopapular exanthema Maculopapuleus exantheem CANDIDATE -en nl HP:0040186 IAO:0000115 A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear NOT_TRANSLATED -en nl HP:0040187 rdfs:label Neonatal sepsis Neonatale sepsis CANDIDATE -en nl HP:0040187 IAO:0000115 Systemic inflammatory response to infection in newborn babies Systemic inflammatory response to infection in newborn babies NOT_TRANSLATED -en nl HP:0007420 rdfs:label Spontaneous hematomas Spontane hematomen CANDIDATE -en nl HP:0007420 IAO:0000115 Spontaneous development of hematomas (hematoma) or bruises without significant trauma Spontaneous development of hematomas (hematoma) or bruises without significant trauma NOT_TRANSLATED -en nl HP:0040188 rdfs:label Osteochondrosis Osteochondrose CANDIDATE -en nl HP:0040188 IAO:0000115 Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification NOT_TRANSLATED -en nl HP:0007421 rdfs:label Telangiectases of the cheeks Teleangiëctasieën van de wangen CANDIDATE -en nl HP:0007421 IAO:0000115 Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks NOT_TRANSLATED -en nl HP:0040189 rdfs:label Scaling skin Schilferige huid CANDIDATE -en nl HP:0040189 IAO:0000115 Refers to the loss of the outer layer of the epidermis in large, scale-like flakes Refers to the loss of the outer layer of the epidermis in large, scale-like flakes NOT_TRANSLATED -en nl HP:0040190 rdfs:label White scaling skin Witte schilferige huid CANDIDATE -en nl HP:0040191 rdfs:label Rectus femoris muscle atrophy Musculus rectus femoris spieratrofie CANDIDATE -en nl HP:0040192 rdfs:label APUdoma APUdoom CANDIDATE -en nl HP:0040192 IAO:0000115 An endocrine tumor arising from an APUD cell An endocrine tumor arising from an APUD cell NOT_TRANSLATED -en nl HP:0007425 rdfs:label Hyperextensible skin of face Hyperextensibiliteit van huid van het gezicht CANDIDATE -en nl HP:0040194 rdfs:label Increased head circumference Verhoogde hoofdomtrek CANDIDATE -en nl HP:0040194 IAO:0000115 An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart NOT_TRANSLATED -en nl HP:0007427 rdfs:label Reticulated skin pigmentation Gereticuleerde huidpigmentatie CANDIDATE -en nl HP:0040195 rdfs:label Decreased head circumference Verminderde hoofdomtrek CANDIDATE -en nl HP:0040195 IAO:0000115 An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean NOT_TRANSLATED -en nl HP:0007428 rdfs:label Telangiectasia of the oral mucosa Teleangiëctasie van de orale mucosa CANDIDATE -en nl HP:0007428 IAO:0000115 Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa NOT_TRANSLATED -en nl HP:0040196 rdfs:label Mild microcephaly Milde microcefalie CANDIDATE -en nl HP:0040196 IAO:0000115 Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD) Verminderde occipito-frontale (hoofd) circumferentie (OFC). Voor microcefalie moet de OFC tussen -3 SD en -2 SD zijn vergeleken met geschikte, leeftijd gecorrigeerde, normaalwaarden (m.a.w. -3 SD &lft;= OFC &lft; -2 SD) CANDIDATE -en nl HP:0007429 rdfs:label Few cafe-au-lait spots Enige café-au-lait vlekken CANDIDATE -en nl HP:0007429 IAO:0000115 The presence of two to five cafe-au-lait macules The presence of two to five cafe-au-lait macules NOT_TRANSLATED -en nl HP:0040197 rdfs:label Encephalomalacia Encefalomalacie CANDIDATE -en nl HP:0040197 IAO:0000115 Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury NOT_TRANSLATED -en nl HP:0007430 rdfs:label Generalized edema Gegeneraliseerd oedeem CANDIDATE -en nl HP:0007430 IAO:0000115 Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body NOT_TRANSLATED -en nl HP:0040198 rdfs:label Non-medullary thyroid carcinoma Non-medullair schildklier carcinoom CANDIDATE -en nl HP:0007431 rdfs:label Congenital ichthyosiform erythroderma Congenitale ichthyosiforme erytrodermie CANDIDATE -en nl HP:0007431 IAO:0000115 An ichthyosiform abnormality of the skin with congenital onset An ichthyosiform abnormality of the skin with congenital onset NOT_TRANSLATED -en nl HP:0007432 rdfs:label Intermittent generalized erythematous papular rash Intermitterend gegeneraliseerd erythemateus papuleus exantheem CANDIDATE -en nl HP:0040200 rdfs:label Motor impersistence Motor impersistence NOT_TRANSLATED -en nl HP:0040200 IAO:0000115 The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts NOT_TRANSLATED -en nl HP:0040201 rdfs:label Simultanapraxia Simultanapraxia NOT_TRANSLATED -en nl HP:0040201 IAO:0000115 A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue NOT_TRANSLATED -en nl HP:0007434 rdfs:label Plaque-like facial hemangioma Plaque-achtige faciaal hemangioom CANDIDATE -en nl HP:0007434 IAO:0000115 Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology NOT_TRANSLATED -en nl HP:0040202 rdfs:label Abnormal consumption behavior Afwijkend consumptie gedrag CANDIDATE -en nl HP:0040203 rdfs:label Abnormal CSF neopterin concentration Afwijkend liquor neopterine niveau CANDIDATE -en nl HP:0040203 IAO:0000115 Abnormal concentration of neopterin in the cerebrospinal fluid (CSF) Abnormal concentration of neopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0007436 rdfs:label Hair-nail ectodermal dysplasia Haar-nagel ectodermale dysplasie CANDIDATE -en nl HP:0040204 rdfs:label Elevated CSF neopterin level Verhoogd liquor neopterine niveau CANDIDATE -en nl HP:0040204 IAO:0000115 Increased concentration of neopterin in the cerebrospinal fluid (CSF) Increased concentration of neopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0007437 rdfs:label Multiple cutaneous leiomyomas Multipele cutane leiomyomen CANDIDATE -en nl HP:0007437 IAO:0000115 The presence of multiple leiomyomas of the skin The presence of multiple leiomyomas of the skin NOT_TRANSLATED -en nl HP:0040205 rdfs:label Decreased CSF neopterin level Verminderd liquor neopterine niveau CANDIDATE -en nl HP:0040205 IAO:0000115 Decreased concentration of neopterin in the cerebrospinal fluid (CSF) Decreased concentration of neopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0007438 rdfs:label Mottled pigmentation of the trunk and proximal extremities Gevlekte pigmentatie van de romp en proximale ledematen CANDIDATE -en nl HP:0040206 rdfs:label Abnormal circulating neopterin concentration Afwijkend niveau van neopterine CANDIDATE -en nl HP:0040206 IAO:0000115 Any deviation from the normal concentration of neopterin in the blood circulation Any deviation from the normal concentration of neopterin in the blood circulation NOT_TRANSLATED -en nl HP:0007439 rdfs:label Generalized keratosis follicularis Gegeneraliseerde keratosis follicularis CANDIDATE -en nl HP:0040207 rdfs:label Abnormal CSF biopterin concentration Afwijkend liquor biopterine niveau CANDIDATE -en nl HP:0040207 IAO:0000115 Abnormal concentration of biopterin in the cerebrospinal fluid (CSF) Abnormal concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0007440 rdfs:label Generalized hyperpigmentation Gegeneraliseerde hyperpigmentatie CANDIDATE -en nl HP:0040208 rdfs:label Elevated CSF biopterin level Verhoogd liquor biopterine niveau CANDIDATE -en nl HP:0040208 IAO:0000115 Increased concentration of biopterin in the cerebrospinal fluid (CSF) Increased concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0007441 rdfs:label Hyperpigmented/hypopigmented macules Gehyperpigmenteerde/gehypopigmenteerde maculae CANDIDATE -en nl HP:0040209 rdfs:label Decreased CSF biopterin level Verminderd liquor biopterine niveau CANDIDATE -en nl HP:0040209 IAO:0000115 Decreased concentration of biopterin in the cerebrospinal fluid (CSF) Decreased concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0040210 rdfs:label Abnormal circulating biopterin concentration Afwijkend niveau van biopterine CANDIDATE -en nl HP:0040210 IAO:0000115 A deviation from the normal concentration of biopterin in the blood circulation A deviation from the normal concentration of biopterin in the blood circulation NOT_TRANSLATED -en nl HP:0007443 rdfs:label Partial albinism Partieel albinisme CANDIDATE -en nl HP:0007443 IAO:0000115 Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs NOT_TRANSLATED -en nl HP:0040211 rdfs:label Abnormal skin morphology of the palm Afwijking van de huid van de palm CANDIDATE -en nl HP:0040211 IAO:0000115 An abnormality of the skin of the palm, that is, the skin of the front of the hand An abnormality of the skin of the palm, that is, the skin of the front of the hand NOT_TRANSLATED -en nl HP:0040212 rdfs:label Risus sardonicus Risus sardonicus CANDIDATE -en nl HP:0040212 IAO:0000115 Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles NOT_TRANSLATED -en nl HP:0040213 rdfs:label Hypopnea Hypopnoe CANDIDATE -en nl HP:0040213 IAO:0000115 Hypopnea is referring to breathing that is abnormally shallow Hypopnea is referring to breathing that is abnormally shallow NOT_TRANSLATED -en nl HP:0007446 rdfs:label Palmoplantar blistering Palmoplantaire blaarvorming CANDIDATE -en nl HP:0007446 IAO:0000115 A type of blistering that affects the skin of the palms of the hands and the soles of the feet A type of blistering that affects the skin of the palms of the hands and the soles of the feet NOT_TRANSLATED -en nl HP:0040214 rdfs:label Abnormal circulating insulin concentration Afwijkend insuline niveau CANDIDATE -en nl HP:0040214 IAO:0000115 An abnormal concentration of insulin in the body An abnormal concentration of insulin in the body NOT_TRANSLATED -en nl HP:0007447 rdfs:label Diffuse palmoplantar hyperkeratosis Diffuse palmoplantaire hyperkeratose CANDIDATE -en nl HP:0007447 IAO:0000115 Diffuse abnormal thickening of the skin on the palms and soles Diffuse abnormal thickening of the skin on the palms and soles NOT_TRANSLATED -en nl HP:0007448 rdfs:label Hyperkeratosis over edematous areas Hyperkeratose over oedemateuze gebieden CANDIDATE -en nl HP:0040216 rdfs:label Hypoinsulinemia Hypoinsulinemie CANDIDATE -en nl HP:0040216 IAO:0000115 A decreased concentration of insulin in the blood A decreased concentration of insulin in the blood NOT_TRANSLATED -en nl HP:0007449 rdfs:label Confetti-like hypopigmented macules Confetti-achtige gehypopigmenteerde maculae CANDIDATE -en nl HP:0040217 rdfs:label Elevated hemoglobin A1c Verhoogd hemoglobine A1c CANDIDATE -en nl HP:0040217 IAO:0000115 An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements NOT_TRANSLATED -en nl HP:0007450 rdfs:label Increased groin pigmentation with raindrop depigmentation Increased groin pigmentation with raindrop depigmentation NOT_TRANSLATED -en nl HP:0040218 rdfs:label Reduced natural killer cell count Verminderd aantal natural killer cellen CANDIDATE -en nl HP:0040218 IAO:0000115 Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor NOT_TRANSLATED -en nl HP:0007451 rdfs:label Ipsilateral lack of facial sweating Ipsilateraal gebrek van faciaal zweten CANDIDATE -en nl HP:0007451 IAO:0000115 Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome NOT_TRANSLATED -en nl HP:0040219 rdfs:label Absent natural killer cells Afwezige natural killer cellen CANDIDATE -en nl HP:0040219 IAO:0000115 Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis NOT_TRANSLATED -en nl HP:0007452 rdfs:label Midface capillary hemangioma Midfaciaal capillair hemangioom CANDIDATE -en nl HP:0040220 rdfs:label Abnormal size of the dental root Afwijkende grootte van de tandheelkundige wortel CANDIDATE -en nl HP:0007453 rdfs:label Flexural lichenification Flexurale lichenificatie CANDIDATE -en nl HP:0007453 IAO:0000115 Lichenification affecting primarily flexural areas of the skin Lichenification affecting primarily flexural areas of the skin NOT_TRANSLATED -en nl HP:0040221 rdfs:label Hypoplasia of the dental root Hypoplasie van de tandheelkundige wortel CANDIDATE -en nl HP:0040222 rdfs:label Maternal thrombophilia Maternale trombofilie CANDIDATE -en nl HP:0040222 IAO:0000115 An increased tendency towards thrombosis in the mother during a pregnancy An increased tendency towards thrombosis in the mother during a pregnancy NOT_TRANSLATED -en nl HP:0007455 rdfs:label Adermatoglyphia Adermatoglyfie CANDIDATE -en nl HP:0040223 rdfs:label Pulmonary hemorrhage Pulmonale bloeding CANDIDATE -en nl HP:0040223 IAO:0000115 Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease NOT_TRANSLATED -en nl HP:0007456 rdfs:label Progressive reticulate hyperpigmentation Progressieve reticulaire hyperpigmentatie CANDIDATE -en nl HP:0040224 rdfs:label Abnormality of fibrinolysis Afwijking van fibrinolyse CANDIDATE -en nl HP:0040224 IAO:0000115 Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) NOT_TRANSLATED -en nl HP:0007457 rdfs:label Prominent veins on trunk Prominente aderen op romp CANDIDATE -en nl HP:0007457 IAO:0000115 Prominent thoracic and abdominal veins Prominent thoracic and abdominal veins NOT_TRANSLATED -en nl HP:0040225 rdfs:label Decrease in high molecular weight von Willebrand factor Multimers Afname van hoog moleculair gewicht van von Willebrand factor multimeren CANDIDATE -en nl HP:0040225 IAO:0000115 A decrease in high molecular weight von Willebrand factor multimers A decrease in high molecular weight von Willebrand factor multimers NOT_TRANSLATED -en nl HP:0007458 rdfs:label Focal hyperextensible skin Focale hyperextensibele huid CANDIDATE -en nl HP:0040226 rdfs:label Decreased level of heparin co-factor II Verminderd niveau van heparine co-factor II CANDIDATE -en nl HP:0040226 IAO:0000115 An abnormality of coagulation related to a decreased concentration of heparin co-factor II An abnormality of coagulation related to a decreased concentration of heparin co-factor II NOT_TRANSLATED -en nl HP:0007459 rdfs:label Generalized anhidrosis Gegeneraliseerde anhidrose CANDIDATE -en nl HP:0040227 rdfs:label Decreased level of histidine-rich glycoprotein Verminderd niveau van histidine-rijke glycoproteïne CANDIDATE -en nl HP:0040227 IAO:0000115 Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation NOT_TRANSLATED -en nl HP:0007460 rdfs:label Autoamputation of digits Auto-amputatie van vingers/tenen CANDIDATE -en nl HP:0040228 rdfs:label Decreased level of plasminogen Verminderd niveau van plasminogeen CANDIDATE -en nl HP:0040228 IAO:0000115 A decreased level of Plasminogen A decreased level of Plasminogen NOT_TRANSLATED -en nl HP:0007461 rdfs:label Hemangiomatosis Hemangiomatose CANDIDATE -en nl HP:0040229 rdfs:label Decreased level of thrombomodulin Verminderd niveau van trombomoduline CANDIDATE -en nl HP:0040229 IAO:0000115 Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot NOT_TRANSLATED -en nl HP:0007462 rdfs:label Bitot spots of the conjunctiva Bitot-vlekken van de conconjunctiva CANDIDATE -en nl HP:0007462 IAO:0000115 Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot NOT_TRANSLATED -en nl HP:0040230 rdfs:label Decreased level of tissue plasminogen activator Verminderd niveau van weefselplasminogeenactivator CANDIDATE -en nl HP:0040230 IAO:0000115 The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis NOT_TRANSLATED -en nl HP:0040231 rdfs:label Abnormal onset of bleeding Afwijkende aanvang van bloeding CANDIDATE -en nl HP:0007464 rdfs:label Sparse facial hair Spaarzaam gezichtshaar CANDIDATE -en nl HP:0007464 IAO:0000115 Reduced number or density of facial hair Reduced number or density of facial hair NOT_TRANSLATED -en nl HP:0040232 rdfs:label Delayed onset bleeding Vertraagde aanvang van bloeding CANDIDATE -en nl HP:0040232 IAO:0000115 Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours NOT_TRANSLATED -en nl HP:0007465 rdfs:label Honeycomb palmoplantar hyperkeratosis Honeycomb palmoplantar hyperkeratosis NOT_TRANSLATED -en nl HP:0007465 IAO:0000115 Abnormal thickening of the skin on the palms and soles with an honeycomb pattern Abnormal thickening of the skin on the palms and soles with an honeycomb pattern NOT_TRANSLATED -en nl HP:0040233 rdfs:label Factor XIII subunit A deficiency Factor XIII subunit A deficiëntie CANDIDATE -en nl HP:0040233 IAO:0000115 Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot NOT_TRANSLATED -en nl HP:0007466 rdfs:label Midfrontal capillary hemangioma Midfrontaal capillair hemangioom CANDIDATE -en nl HP:0040234 rdfs:label Factor XIII subunit B deficiency Factor XIII subunit B deficiëntie CANDIDATE -en nl HP:0040234 IAO:0000115 Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot NOT_TRANSLATED -en nl HP:0040235 rdfs:label Leukocyte inclusion bodies Leukocyt inclusielichaampjes CANDIDATE -en nl HP:0040235 IAO:0000115 The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes NOT_TRANSLATED -en nl HP:0007468 rdfs:label Perifollicular hyperkeratosis Perifolliculaire hyperkeratose CANDIDATE -en nl HP:0007468 IAO:0000115 Increased amount of keratin (visible as white scales) surrounding hair follicles Increased amount of keratin (visible as white scales) surrounding hair follicles NOT_TRANSLATED -en nl HP:0040236 rdfs:label Hyperfibrinolysis Hyperfibrinolyse CANDIDATE -en nl HP:0040236 IAO:0000115 Increased degradation of fibrin, associated with clot instability and bleeding Increased degradation of fibrin, associated with clot instability and bleeding NOT_TRANSLATED -en nl HP:0007469 rdfs:label Palmoplantar cutis gyrata Palmoplantaire cutis gyrata CANDIDATE -en nl HP:0007469 IAO:0000115 Cutis gyrata of palms and soles Cutis gyrata of palms and soles NOT_TRANSLATED -en nl HP:0040237 rdfs:label Impaired binding of factor VIII to VWF Verminderde binding van factor VIII aan VWF CANDIDATE -en nl HP:0040237 IAO:0000115 Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay NOT_TRANSLATED -en nl HP:0007470 rdfs:label Periarticular subcutaneous nodules Periarticulaire subcutane noduli CANDIDATE -en nl HP:0007470 IAO:0000115 Subcutaneous nodules that are located in the vicinity of joints Subcutaneous nodules that are located in the vicinity of joints NOT_TRANSLATED -en nl HP:0040238 rdfs:label Impaired neutrophil chemotaxis Verminderde neutrofiele chemotaxis CANDIDATE -en nl HP:0040238 IAO:0000115 An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response NOT_TRANSLATED -en nl HP:0007471 rdfs:label Axillary and groin hyperpigmentation and hypopigmentation Axillaire en lies hyperpigmentatie en hypopigmentatie CANDIDATE -en nl HP:0040239 rdfs:label Increased plasma vitamin K epoxide after vitamin K supplementation Verhoogd plasma vitamine K epoxide na vitamine K supplementie CANDIDATE -en nl HP:0040239 IAO:0000115 Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1 Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1 NOT_TRANSLATED -en nl HP:0040240 rdfs:label Increased ratio of VWF propeptide to VWF antigen Verhoogde ratio van VWF propetide tot VWF antigeen CANDIDATE -en nl HP:0040240 IAO:0000115 An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA NOT_TRANSLATED -en nl HP:0007473 rdfs:label Crusting erythematous dermatitis Crusting erythematous dermatitis NOT_TRANSLATED -en nl HP:0040241 rdfs:label Increased RIPA Verhoogd RIPA CANDIDATE -en nl HP:0040241 IAO:0000115 Increased platelet agglutination in response to low-dose ristocetin Increased platelet agglutination in response to low-dose ristocetin NOT_TRANSLATED -en nl HP:0040242 rdfs:label Muscle hemorrhage Spierbloeding CANDIDATE -en nl HP:0040242 IAO:0000115 Bleeding occuring within a muscle Bleeding occuring within a muscle NOT_TRANSLATED -en nl HP:0007475 rdfs:label Congenital bullous ichthyosiform erythroderma Congenitale bulleuze ichthyosiforme erytrodermie CANDIDATE -en nl HP:0007475 IAO:0000115 An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet NOT_TRANSLATED -en nl HP:0040243 rdfs:label Prolonged euglobulin clot lysis time Prolonged euglobulin clot lysis time NOT_TRANSLATED -en nl HP:0040243 IAO:0000115 Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored NOT_TRANSLATED -en nl HP:0007476 rdfs:label Anhidrotic ectodermal dysplasia Anhidrotische ectodermale dysplasie CANDIDATE -en nl HP:0040244 rdfs:label Prolonged Russell's viper venom time Prolonged Russell's viper venom time NOT_TRANSLATED -en nl HP:0040244 IAO:0000115 Increased time to coagulation in the Russell's viper venom assay Increased time to coagulation in the Russell's viper venom assay NOT_TRANSLATED -en nl HP:0007477 rdfs:label Abnormal dermatoglyphics Afwijkende dermatoglyfen CANDIDATE -en nl HP:0007477 IAO:0000115 An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles NOT_TRANSLATED -en nl HP:0040245 rdfs:label Reduced alpha-2-antiplasmin activity Verminderd alfa-2-antiplasmine activiteit CANDIDATE -en nl HP:0040245 IAO:0000115 Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis NOT_TRANSLATED -en nl HP:0040246 rdfs:label Reduced antithrombin antigen Verminderd antitrombine antigeen CANDIDATE -en nl HP:0040246 IAO:0000115 Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation NOT_TRANSLATED -en nl HP:0007479 rdfs:label Congenital nonbullous ichthyosiform erythroderma Congenitale non-bulleuze ichthyosiforme erytrodermie CANDIDATE -en nl HP:0007479 IAO:0000115 The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales NOT_TRANSLATED -en nl HP:0040247 rdfs:label Reduced euglobulin clot lysis time Reduced euglobulin clot lysis time NOT_TRANSLATED -en nl HP:0040247 IAO:0000115 Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored NOT_TRANSLATED -en nl HP:0007480 rdfs:label Decreased sweating due to autonomic dysfunction Verminderd zweten vanwege autonome dysfunctie CANDIDATE -en nl HP:0040248 rdfs:label Reduced plasminogen activator inhibitor 1 activity Verminderde plasminogeenactivator-inhibitor type 1 activiteit CANDIDATE -en nl HP:0040248 IAO:0000115 Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator NOT_TRANSLATED -en nl HP:0007481 rdfs:label Hyperpigmented nevi Gehyperpigmenteerde naevi CANDIDATE -en nl HP:0040249 rdfs:label Reduced plasminogen activator inhibitor 1 antigen Verminderde plasminogeenactivator-inhibitor type 1 antigeen CANDIDATE -en nl HP:0040249 IAO:0000115 Reduced level of plasminogen activator inhibitor 1 antigen Reduced level of plasminogen activator inhibitor 1 antigen NOT_TRANSLATED -en nl HP:0007482 rdfs:label Generalized papillary lesions Gegeneraliseerde papillaire laesies CANDIDATE -en nl HP:0040250 rdfs:label Reduced prothrombin antigen Verminderd protrombine antigeen CANDIDATE -en nl HP:0040250 IAO:0000115 Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin NOT_TRANSLATED -en nl HP:0007483 rdfs:label Depigmentation/hyperpigmentation of skin Depigmentatie/hyperpigmentatie van huid CANDIDATE -en nl HP:0040251 rdfs:label Hand dimple Dimples van de hand CANDIDATE -en nl HP:0040251 IAO:0000115 A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand NOT_TRANSLATED -en nl HP:0040252 rdfs:label Abnormal size of the clitoris Afwijkende grootte van de clitoris CANDIDATE -en nl HP:0007485 rdfs:label Absence of subcutaneous fat Afwezigheid van subcutaan vet CANDIDATE -en nl HP:0007485 IAO:0000115 Lack of subcutaneous adipose tissue Lack of subcutaneous adipose tissue NOT_TRANSLATED -en nl HP:0040253 rdfs:label Increased size of the clitoris Toegenomen grootte van de clitoris CANDIDATE -en nl HP:0007486 rdfs:label Cavernous hemangioma of the face Caverneus hemangioom van het gezicht CANDIDATE -en nl HP:0040254 rdfs:label Decreased size of the clitoris Afgenomen grootte van de clitoris CANDIDATE -en nl HP:0040255 rdfs:label Aplasia/Hypoplasia of the clitoris Aplasia/Hypoplasie van de clitoris CANDIDATE -en nl HP:0007488 rdfs:label Diffuse skin atrophy Diffuse huid atrofie CANDIDATE -en nl HP:0040256 rdfs:label Aplastic/Hypoplastic nasopharyngeal adenoids Aplastische/Hypoplastische nasofaryngeale adenoïden CANDIDATE -en nl HP:0040256 IAO:0000115 Absence or underdevelopment of the nasopharyngeal adenoids Absence or underdevelopment of the nasopharyngeal adenoids NOT_TRANSLATED -en nl HP:0007489 rdfs:label Diffuse telangiectasia Diffuse teleangiëctasieën CANDIDATE -en nl HP:0007489 IAO:0000115 Telangiectases (small dilated blood vessels) with a diffuse localization Telangiectases (small dilated blood vessels) with a diffuse localization NOT_TRANSLATED -en nl HP:0040257 rdfs:label Abnormal size of nasopharyngeal adenoids Afwijkende grootte van nasofaryngeale adenoïden CANDIDATE -en nl HP:0040257 IAO:0000115 A deviation in the size of nasopharyngeal adenoids A deviation in the size of nasopharyngeal adenoids NOT_TRANSLATED -en nl HP:0007490 rdfs:label Linear arrays of macular hyperkeratoses in flexural areas Linear arrays of macular hyperkeratoses in flexural areas NOT_TRANSLATED -en nl HP:0040258 rdfs:label Hypoplastic nasopharyngeal adenoids Hypoplastische nasofaryngeale adenoïden CANDIDATE -en nl HP:0040258 IAO:0000115 Underdevelopment of the nasopharyngeal adenoids Underdevelopment of the nasopharyngeal adenoids NOT_TRANSLATED -en nl HP:0040259 rdfs:label Aplastic nasopharyngeal adenoids Aplastische nasofaryngeale adenoïden CANDIDATE -en nl HP:0040259 IAO:0000115 Absence of the nasopharyngeal adenoids as a developmental defect Absence of the nasopharyngeal adenoids as a developmental defect NOT_TRANSLATED -en nl HP:0040260 rdfs:label Decreased size of nasopharyngeal adenoids Afgenomen grootte van nasofaryngeale adenoïden CANDIDATE -en nl HP:0040260 IAO:0000115 An abnormal decrease in the size of nasopharyngeal adenoids An abnormal decrease in the size of nasopharyngeal adenoids NOT_TRANSLATED -en nl HP:0040261 rdfs:label Increased size of nasopharyngeal adenoids Toegenomen grootte van nasofaryngeale adenoïden CANDIDATE -en nl HP:0040261 IAO:0000115 An abnormal increase in the size of nasopharyngeal adenoids An abnormal increase in the size of nasopharyngeal adenoids NOT_TRANSLATED -en nl HP:0007494 rdfs:label Discrete 2 to 5-mm hyper- and hypopigmented macules Discrete 2-5 mm gehyper- en hypopigmenteerde maculae CANDIDATE -en nl HP:0040262 rdfs:label Glue ear Lijmoor CANDIDATE -en nl HP:0040262 IAO:0000115 Middle ear is filled with glue-like fluid instead of air Middle ear is filled with glue-like fluid instead of air NOT_TRANSLATED -en nl HP:0007495 rdfs:label Prematurely aged appearance Prematuur oud uiterlijk CANDIDATE -en nl HP:0040263 rdfs:label Jaw ankylosis Ankylose van de kaak CANDIDATE -en nl HP:0040264 rdfs:label Jaw pain Kaakpijn CANDIDATE -en nl HP:0040264 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw NOT_TRANSLATED -en nl HP:0007497 rdfs:label Focal friction-related palmoplantar hyperkeratosis Focale frictie-gerelateerde palmoplantaire hyperkeratose CANDIDATE -en nl HP:0007497 IAO:0000115 Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction NOT_TRANSLATED -en nl HP:0040265 rdfs:label Upper limb muscle hypertrophy Bovenste extremiteit spier hypertrofie CANDIDATE -en nl HP:0040265 IAO:0000115 Abnormal increase in muscle size and mass of one or both arms not due to training Abnormal increase in muscle size and mass of one or both arms not due to training NOT_TRANSLATED -en nl HP:0040266 rdfs:label Proximal upper limb muscle hypertrophy Proximale bovenste extremiteit spier hypertrofie CANDIDATE -en nl HP:0007499 rdfs:label Recurrent staphylococcal infections Recidiverende stafylokokkeninfecties CANDIDATE -en nl HP:0007499 IAO:0000115 Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections NOT_TRANSLATED -en nl HP:0040267 rdfs:label Distal upper limb muscle hypertrophy Distale bovenste extremiteit hypertrofie CANDIDATE -en nl HP:0007500 rdfs:label Decreased number of sweat glands Verminderd aantal zweetklieren CANDIDATE -en nl HP:0007500 IAO:0000115 The presence of fewer than normal sweat glands The presence of fewer than normal sweat glands NOT_TRANSLATED -en nl HP:0040268 rdfs:label Recurrent infections of the middle ear Recidiverende infecties van het middenoor CANDIDATE -en nl HP:0040268 IAO:0000115 Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections NOT_TRANSLATED -en nl HP:0007501 rdfs:label Streaks of hyperkeratosis along each finger onto the palm Stroken van hyperkeratose langs elke vinger op de palm CANDIDATE -en nl HP:0040269 rdfs:label Blocked Eustachian tube Geblokkeerde buis van Eustachius CANDIDATE -en nl HP:0007502 rdfs:label Follicular hyperkeratosis Folliculaire hyperkeratose CANDIDATE -en nl HP:0007502 IAO:0000115 A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum NOT_TRANSLATED -en nl HP:0040270 rdfs:label Impaired glucose tolerance Verminderde glucose tolerantie CANDIDATE -en nl HP:0040270 IAO:0000115 An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose NOT_TRANSLATED -en nl HP:0007503 rdfs:label Generalized ichthyosis Gegeneraliseerde ichthyosis CANDIDATE -en nl HP:0007504 rdfs:label Diffuse slow skin atrophy Diffuse trage huid atrofie CANDIDATE -en nl HP:0040272 rdfs:label Hyperintensity of MRI T2 signal of the spinal cord Hyperintensiteit van MRI T2 signaal van ruggenmerg CANDIDATE -en nl HP:0040272 IAO:0000115 A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord NOT_TRANSLATED -en nl HP:0007505 rdfs:label Progressive hyperpigmentation Progressieve hyperpigmentatie CANDIDATE -en nl HP:0040273 rdfs:label Adenocarcinoma of the intestines Adenocarcinoom van de darmen CANDIDATE -en nl HP:0040273 IAO:0000115 A malignant epithelial tumor with a glandular organization that originates in the intestines A malignant epithelial tumor with a glandular organization that originates in the intestines NOT_TRANSLATED -en nl HP:0007506 rdfs:label Congenital absence of skin of limbs Congenitale afwezigheid van huid van ledematen CANDIDATE -en nl HP:0040274 rdfs:label Adenocarcinoma of the small intestine Adenocarcinoom van de dunne darm CANDIDATE -en nl HP:0040274 IAO:0000115 A malignant epithelial tumor with a glandular organization that originates in the small intestine A malignant epithelial tumor with a glandular organization that originates in the small intestine NOT_TRANSLATED -en nl HP:0040275 rdfs:label Adenocarcinoma of the large intestine Adenocarcinoom van de dikke darm CANDIDATE -en nl HP:0040275 IAO:0000115 A malignant epithelial tumor with a glandular organization that originates in the large intestine A malignant epithelial tumor with a glandular organization that originates in the large intestine NOT_TRANSLATED -en nl HP:0007508 rdfs:label Punctate palmar hyperkeratosis Punctate palmar hyperkeratosis NOT_TRANSLATED -en nl HP:0007508 IAO:0000115 Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands NOT_TRANSLATED -en nl HP:0040276 rdfs:label Adenocarcinoma of the colon Adenocarcinoom van het colon CANDIDATE -en nl HP:0007509 rdfs:label Patchy hypo- and hyperpigmentation Fragmentarische hypo- en hyperpigmentatie CANDIDATE -en nl HP:0040277 rdfs:label Neoplasm of the pituitary gland Neoplasma van de hypofyse CANDIDATE -en nl HP:0007510 rdfs:label Focal dermal aplasia/hypoplasia Focale dermale aplasie/hypoplasie CANDIDATE -en nl HP:0040278 rdfs:label Prolactinoma Prolactinoom CANDIDATE -en nl HP:0040278 IAO:0000115 A benign tumor (adenoma) of the pituitary gland A benign tumor (adenoma) of the pituitary gland NOT_TRANSLATED -en nl HP:0007511 rdfs:label Mottled pigmentation of photoexposed areas Gevlekte pigmentatie van de aan zon blootgestelde gebieden CANDIDATE -en nl HP:0040279 rdfs:label Frequency Frequentie CANDIDATE -en nl HP:0040279 IAO:0000115 Class to represent frequency of phenotypic abnormalities within a patient cohort Class to represent frequency of phenotypic abnormalities within a patient cohort NOT_TRANSLATED -en nl HP:0040280 rdfs:label Obligate Verplicht CANDIDATE -en nl HP:0040280 IAO:0000115 Always present, i.e. in 100% of the cases Always present, i.e. in 100% of the cases NOT_TRANSLATED -en nl HP:0007513 rdfs:label Generalized hypopigmentation Gegeneraliseerde hypopigmentatie CANDIDATE -en nl HP:0040281 rdfs:label Very frequent Zeer frequent CANDIDATE -en nl HP:0040281 IAO:0000115 Present in 80% to 99% of the cases Present in 80% to 99% of the cases NOT_TRANSLATED -en nl HP:0007514 rdfs:label Edema of the dorsum of hands Oedeem van de dorsum van handen CANDIDATE -en nl HP:0007514 IAO:0000115 An abnormal accumulation of fluid beneath the skin on the back of the hands An abnormal accumulation of fluid beneath the skin on the back of the hands NOT_TRANSLATED -en nl HP:0040282 rdfs:label Frequent Frequent CANDIDATE -en nl HP:0040282 IAO:0000115 Present in 30% to 79% of the cases Present in 30% to 79% of the cases NOT_TRANSLATED -en nl HP:0007515 rdfs:label Hypoplastic pilosebaceous units Hypoplastische pilosebaceous eenheden CANDIDATE -en nl HP:0040283 rdfs:label Occasional Af en toe CANDIDATE -en nl HP:0040283 IAO:0000115 Present in 5% to 29% of the cases Present in 5% to 29% of the cases NOT_TRANSLATED -en nl HP:0007516 rdfs:label Redundant skin on fingers Overtollige huid van vingers CANDIDATE -en nl HP:0007516 IAO:0000115 Loose and sagging skin of the fingers Loose and sagging skin of the fingers NOT_TRANSLATED -en nl HP:0040284 rdfs:label Very rare Zeer zeldzaam CANDIDATE -en nl HP:0040284 IAO:0000115 Present in 1% to 4% of the cases Present in 1% to 4% of the cases NOT_TRANSLATED -en nl HP:0007517 rdfs:label Palmoplantar cutis laxa Palmoplantaire cutis laxa CANDIDATE -en nl HP:0007517 IAO:0000115 Loose, wrinkled skin of hands and feet Loose, wrinkled skin of hands and feet NOT_TRANSLATED -en nl HP:0040285 rdfs:label Excluded Uitgesloten CANDIDATE -en nl HP:0040285 IAO:0000115 Present in 0% of the cases Present in 0% of the cases NOT_TRANSLATED -en nl HP:0040286 rdfs:label Abnormal axial muscle morphology Afwijking van axiale spieren CANDIDATE -en nl HP:0040286 IAO:0000115 A structural anomaly of the muscles of the trunk and head A structural anomaly of the muscles of the trunk and head NOT_TRANSLATED -en nl HP:0040287 rdfs:label Axial muscle atrophy Axiale spieratrofie CANDIDATE -en nl HP:0040288 rdfs:label Nasogastric tube feeding Nasogastrische sondevoeding CANDIDATE -en nl HP:0040288 IAO:0000115 The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food NOT_TRANSLATED -en nl HP:0007521 rdfs:label Irregular hyperpigmentation of back Irregulaire hyperpigmentatie van rug CANDIDATE -en nl HP:0040289 rdfs:label Cyclic neutropenia Cyclische neutropenie CANDIDATE -en nl HP:0040289 IAO:0000115 Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia) Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia) NOT_TRANSLATED -en nl HP:0007522 rdfs:label Increased number of skin folds Verhoogd aantal huidplooien CANDIDATE -en nl HP:0040291 rdfs:label Skeletal muscle steatosis Skeletspier steatose CANDIDATE -en nl HP:0007524 rdfs:label Atypical neurofibromatosis Atypische neurofibromatose CANDIDATE -en nl HP:0040292 rdfs:label Left hemiplegia Linker hemiplegie CANDIDATE -en nl HP:0007525 rdfs:label Yellow subcutaneous tissue covered by thin, scaly skin Geel subcutaan weefsel bedekt met een dunne, geschubde huid CANDIDATE -en nl HP:0040293 rdfs:label Right hemiplegia Rechter hemiplegie CANDIDATE -en nl HP:0007526 rdfs:label Hypopigmented skin patches on arms Hypogepigmenteerde huidvlekken op armen CANDIDATE -en nl HP:0040294 rdfs:label Duplicated tongue Gedupliceerde tong CANDIDATE -en nl HP:0040295 rdfs:label Duplication of the upper lip Duplicatie van de bovenlip CANDIDATE -en nl HP:0040296 rdfs:label Abnormal location of the eyebrow Afwijkende locatie van de wenkbrauw CANDIDATE -en nl HP:0040296 IAO:0000115 Anomalous anatomical placement of the eyebrow Anomalous anatomical placement of the eyebrow NOT_TRANSLATED -en nl HP:0007529 rdfs:label Hidrotic ectodermal dysplasia Hidrotische ectodermale dysplasie CANDIDATE -en nl HP:0040297 rdfs:label Preauricular cyst Pre-auriculaire cyste CANDIDATE -en nl HP:0040297 IAO:0000115 Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix NOT_TRANSLATED -en nl HP:0007530 rdfs:label Punctate palmoplantar hyperkeratosis Punctate palmoplantar hyperkeratosis NOT_TRANSLATED -en nl HP:0040298 rdfs:label Hyperplasia of the endometrium Hyperplasie van het endometrium CANDIDATE -en nl HP:0040299 rdfs:label Decreased circulating free fatty acid level Afgenomen circulerend vrije vetzuur niveau CANDIDATE -en nl HP:0040300 rdfs:label Abnormal circulating free fatty acid concentration Afwijkend circulerend vrije vetzuur niveau CANDIDATE -en nl HP:0040300 IAO:0000115 Any deviation from the normal concentration of a free fatty acid in the blood circulation Any deviation from the normal concentration of a free fatty acid in the blood circulation NOT_TRANSLATED -en nl HP:0040301 rdfs:label Increased urinary glycerol Verhoogd urine glycerol CANDIDATE -en nl HP:0040301 IAO:0000115 An increased concentration of glycerol in the urine An increased concentration of glycerol in the urine NOT_TRANSLATED -en nl HP:0007534 rdfs:label Congenital posterior occipital alopecia Congenitale posterieure occipitale alopecia CANDIDATE -en nl HP:0007534 IAO:0000115 Loss of hair in the occipital region of the scalp with congenital onset Loss of hair in the occipital region of the scalp with congenital onset NOT_TRANSLATED -en nl HP:0040302 rdfs:label Hyperglycerolemia Hyperglycerolemie CANDIDATE -en nl HP:0040302 IAO:0000115 Increased concentration of glycerol in the blood Increased concentration of glycerol in the blood NOT_TRANSLATED -en nl HP:0007535 rdfs:label Hypopigmented streaks Gehypopigmenteerde strepen CANDIDATE -en nl HP:0040303 rdfs:label Decreased serum iron Verminderd serum ijzer CANDIDATE -en nl HP:0007536 rdfs:label Aplasia cutis congenita of midline scalp vertex Aplasia cutis congenita of midline scalp vertex NOT_TRANSLATED -en nl HP:0040304 rdfs:label Duplication of the sella turcica Duplicatie van de sella turcica CANDIDATE -en nl HP:0007537 rdfs:label Severe photosensitivity Ernstige fotosensitiviteit CANDIDATE -en nl HP:0007537 IAO:0000115 A severe degree of photosensitivity of the skin A severe degree of photosensitivity of the skin NOT_TRANSLATED -en nl HP:0040305 rdfs:label Increased male libido Verhoogd mannelijk libido CANDIDATE -en nl HP:0040305 IAO:0000115 Increased desire for sexual activity on the part of a male Increased desire for sexual activity on the part of a male NOT_TRANSLATED -en nl HP:0040306 rdfs:label Decreased male libido Afgenomen mannelijk libido CANDIDATE -en nl HP:0040306 IAO:0000115 Reduced desire for sexual activity on the part of a male Reduced desire for sexual activity on the part of a male NOT_TRANSLATED -en nl HP:0040307 rdfs:label Male sexual dysfunction Mannelijke seksuele disfunctie CANDIDATE -en nl HP:0040307 IAO:0000115 A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity NOT_TRANSLATED -en nl HP:0040308 rdfs:label Male anorgasmia Mannelijke anorgasmie CANDIDATE -en nl HP:0040308 IAO:0000115 Inability of a male to reach orgasm Inability of a male to reach orgasm NOT_TRANSLATED -en nl HP:0007541 rdfs:label Frontal cutaneous lipoma Frontaal cutaan lipoom CANDIDATE -en nl HP:0007541 IAO:0000115 Presence of a cutaneous lipoma on the forehead Presence of a cutaneous lipoma on the forehead NOT_TRANSLATED -en nl HP:0040309 rdfs:label Increased size of the mandible Toegenomen omvang van de onderkaak CANDIDATE -en nl HP:0007542 rdfs:label Absent pigmentation of the ventral chest Afwezige pigmentatie van de ventrale borst CANDIDATE -en nl HP:0007542 IAO:0000115 Lack of skin pigmentation (coloring) of the anterior chest Lack of skin pigmentation (coloring) of the anterior chest NOT_TRANSLATED -en nl HP:0040310 rdfs:label Sterile arthritis Steriele artritis CANDIDATE -en nl HP:0040310 IAO:0000115 An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures NOT_TRANSLATED -en nl HP:0007543 rdfs:label Epidermal hyperkeratosis Epidermale hyperkeratose CANDIDATE -en nl HP:0040311 rdfs:label Symmetric polyarthritis Symmetrische distale artritis CANDIDATE -en nl HP:0040311 IAO:0000115 Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion NOT_TRANSLATED -en nl HP:0007544 rdfs:label Piebaldism Piebaldisme CANDIDATE -en nl HP:0007544 IAO:0000115 Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution NOT_TRANSLATED -en nl HP:0040312 rdfs:label Temporomandibular arthritis Temporo-mandibulaire autosomaal recessief CANDIDATE -en nl HP:0007545 rdfs:label Congenital palmoplantar hyperkeratosis Congenitale palmoplantaire keratose CANDIDATE -en nl HP:0007545 IAO:0000115 Abnormal thickening of the skin on the palms and soles that is present at birth Abnormal thickening of the skin on the palms and soles that is present at birth NOT_TRANSLATED -en nl HP:0040313 rdfs:label Oligoarthritis Oligoartritis CANDIDATE -en nl HP:0040313 IAO:0000115 A type of arthritis that affects up to four joints in the first six months of disease A type of arthritis that affects up to four joints in the first six months of disease NOT_TRANSLATED -en nl HP:0007546 rdfs:label Linear hyperpigmentation Lineaire hyperpigmentatie CANDIDATE -en nl HP:0040314 rdfs:label Blind vagina Blinde vagina CANDIDATE -en nl HP:0040314 IAO:0000115 The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia NOT_TRANSLATED -en nl HP:0040315 rdfs:label Tongue edema Tong oedeem CANDIDATE -en nl HP:0040315 IAO:0000115 An abnormal accumulation of fluid and swelling in the tongue An abnormal accumulation of fluid and swelling in the tongue NOT_TRANSLATED -en nl HP:0007549 rdfs:label Desquamation of skin soon after birth Desquamatie van de huid kort na de geboorte CANDIDATE -en nl HP:0040317 rdfs:label Blue urine Blauwe urine CANDIDATE -en nl HP:0040317 IAO:0000115 An abnormal blue color of the urine An abnormal blue color of the urine NOT_TRANSLATED -en nl HP:0007550 rdfs:label Hypohidrosis or hyperhidrosis Hypohidrose of hyperhidrose CANDIDATE -en nl HP:0040318 rdfs:label Red urine Rode urine CANDIDATE -en nl HP:0040318 IAO:0000115 An abnormal red color of the urine An abnormal red color of the urine NOT_TRANSLATED -en nl HP:0040319 rdfs:label Dark urine Donkere urine CANDIDATE -en nl HP:0040319 IAO:0000115 An abnormal dark color of the urine An abnormal dark color of the urine NOT_TRANSLATED -en nl HP:0007552 rdfs:label Abnormal subcutaneous fat tissue distribution Afwijkende verdeling van subcutaan vetweefsel CANDIDATE -en nl HP:0040320 rdfs:label Red-brown urine Rood-bruine urine CANDIDATE -en nl HP:0040320 IAO:0000115 An abnormal red-brown color of the urine An abnormal red-brown color of the urine NOT_TRANSLATED -en nl HP:0007553 rdfs:label Congenital symmetrical palmoplantar keratosis Congenitale symmetrische palmoplantaire keratose CANDIDATE -en nl HP:0040321 rdfs:label Dark yellow urine Donkergele urine CANDIDATE -en nl HP:0040321 IAO:0000115 An abnormal dark-yellow color of the urine An abnormal dark-yellow color of the urine NOT_TRANSLATED -en nl HP:0007554 rdfs:label Confetti hypopigmentation pattern of lower leg skin Confetti-patroon van hypopigmentatie van huid van onderben CANDIDATE -en nl HP:0040322 rdfs:label Purple urine Paarse urine CANDIDATE -en nl HP:0040322 IAO:0000115 An abnormal purple color of the urine An abnormal purple color of the urine NOT_TRANSLATED -en nl HP:0040323 rdfs:label Erythema of the eyelids Erytheem van de oogleden CANDIDATE -en nl HP:0040323 IAO:0000115 Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED -en nl HP:0007556 rdfs:label Plantar hyperkeratosis Plantaire hyperkeratose CANDIDATE -en nl HP:0007556 IAO:0000115 Hyperkeratosis affecting the sole of the foot Hyperkeratosis affecting the sole of the foot NOT_TRANSLATED -en nl HP:0040324 rdfs:label Heliotrope rash Heliotrope huiduitslag CANDIDATE -en nl HP:0040324 IAO:0000115 In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower NOT_TRANSLATED -en nl HP:0040325 rdfs:label Bull's eye rash Bull's eye huiduitslag CANDIDATE -en nl HP:0040325 IAO:0000115 A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings NOT_TRANSLATED -en nl HP:0040326 rdfs:label Hypoplasia of the olfactory bulb Hypoplasie van de bulbus olfactorius CANDIDATE -en nl HP:0040326 IAO:0000115 Underdevelopment of the olfactory bulb Underdevelopment of the olfactory bulb NOT_TRANSLATED -en nl HP:0007559 rdfs:label Localized epidermolytic hyperkeratosis Gelokaliseerde epidermolytische hyperkeratose CANDIDATE -en nl HP:0040327 rdfs:label Abnormal morphology of the olfactory bulb Afwijkende morfologie van de bulbus olfactorius CANDIDATE -en nl HP:0040327 IAO:0000115 An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell NOT_TRANSLATED -en nl HP:0007560 rdfs:label Unusual dermatoglyphics Ongebruikelijke dermatoglyfen CANDIDATE -en nl HP:0040328 rdfs:label Focal hyperintensity of cerebral white matter on MRI Focale hyperintensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0040328 IAO:0000115 An abnormal area of increased brightness (hyperintensity) that is limited to one particular area An abnormal area of increased brightness (hyperintensity) that is limited to one particular area NOT_TRANSLATED -en nl HP:0040329 rdfs:label Multifocal hyperintensity of cerebral white matter on MRI Multifocale hyperintensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0040329 IAO:0000115 An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas NOT_TRANSLATED -en nl HP:0040330 rdfs:label Confluent hyperintensity of cerebral white matter on MRI Confluerende hyperintensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0040330 IAO:0000115 Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together NOT_TRANSLATED -en nl HP:0040331 rdfs:label Focal hypointensity of cerebral white matter on MRI Focale hypointensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0040332 rdfs:label Multifocal hypointensity of cerebral white matter on MRI Multifocale hypointensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0007565 rdfs:label Multiple cafe-au-lait spots Multipele café-au-lait vlekken CANDIDATE -en nl HP:0007565 IAO:0000115 The presence of six or more cafe-au-lait spots The presence of six or more cafe-au-lait spots NOT_TRANSLATED -en nl HP:0040333 rdfs:label Confluent hypointensity of cerebral white matter on MRI Confluerende hypointensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0007566 rdfs:label Index finger dermatoglyphic radial loop Index finger dermatoglyphic radial loop NOT_TRANSLATED -en nl HP:0040334 rdfs:label Purulent rhinitis Purulent rhinitis NOT_TRANSLATED -en nl HP:0040334 IAO:0000115 Chronic rhinitis accompanied by pus formation Chronic rhinitis accompanied by pus formation NOT_TRANSLATED -en nl HP:0007569 rdfs:label Generalized seborrheic dermatitis Gegeneraliseerde seborroïsche dermatitis CANDIDATE -en nl HP:0007569 IAO:0000115 Seborrheic dermatitis that is not localized to any one particular region Seborrheic dermatitis that is not localized to any one particular region NOT_TRANSLATED -en nl HP:0007570 rdfs:label Hyperkeratosis lenticularis perstans Hyperkeratose lenticularis perstans CANDIDATE -en nl HP:0007570 IAO:0000115 Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa NOT_TRANSLATED -en nl HP:0007572 rdfs:label Hyperpigmented streaks Gehyperpigmenteerde strepen CANDIDATE -en nl HP:0007573 rdfs:label Late onset atopic dermatitis Late onset atopische dermatitis CANDIDATE -en nl HP:0007573 IAO:0000115 A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis NOT_TRANSLATED -en nl HP:0007574 rdfs:label Generalized bronze hyperpigmentation Gegeneraliseerde bronzen hyperpigmentatie CANDIDATE -en nl HP:0007576 rdfs:label Palmar neurofibromas Palmaire neurofibromen CANDIDATE -en nl HP:0007581 rdfs:label Mediosternal, longitudinal streak of hypopigmentation Mediosternale, longitudinale streep van hypopigmentatie CANDIDATE -en nl HP:0007583 rdfs:label Telangiectasia macularis eruptiva perstans Telangiectasia macularis eruptiva perstans CANDIDATE -en nl HP:0007585 rdfs:label Skin fragility with non-scarring blistering Fragiliteit van huid met blaarvorming zonder littekens CANDIDATE -en nl HP:0007586 rdfs:label Telangiectases producing 'marbled' skin Telangiectases producing 'marbled' skin NOT_TRANSLATED -en nl HP:0007587 rdfs:label Numerous pigmented freckles Talrijke gepigmenteerde sproeten CANDIDATE -en nl HP:0007588 rdfs:label Reticular hyperpigmentation Reticulaire hyperpigmentatie CANDIDATE -en nl HP:0007588 IAO:0000115 Increased pigmentation of the skin with a netlike (reticular) pattern Increased pigmentation of the skin with a netlike (reticular) pattern NOT_TRANSLATED -en nl HP:0007589 rdfs:label Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita op romp of ledematen CANDIDATE -en nl HP:0007589 IAO:0000115 A developmental defect resulting in the congenital absence of skin on the trunk or the limbs A developmental defect resulting in the congenital absence of skin on the trunk or the limbs NOT_TRANSLATED -en nl HP:0007590 rdfs:label Aplasia cutis congenita over posterior parietal area Aplasia cutis congenita over posterieur pariëtaal gebied CANDIDATE -en nl HP:0007592 rdfs:label Aplasia/Hypoplastia of the eccrine sweat glands Aplasie/Hypoplasie van de eccriene zweetklieren CANDIDATE -en nl HP:0007592 IAO:0000115 Absence or developmental hypoplasia of the eccrine sweat glands Absence or developmental hypoplasia of the eccrine sweat glands NOT_TRANSLATED -en nl HP:0007595 rdfs:label Redundant skin in infancy Overtollige huid in zuigelingenperiode CANDIDATE -en nl HP:0007596 rdfs:label Painful subcutaneous lipomas Pijnlijke subcutane lipomen CANDIDATE -en nl HP:0007596 IAO:0000115 The presence of multiple subcutaneous lipoma that cause pain The presence of multiple subcutaneous lipoma that cause pain NOT_TRANSLATED -en nl HP:0007598 rdfs:label Bilateral single transverse palmar creases Bilaterale enkele handlijn CANDIDATE -en nl HP:0007598 IAO:0000115 The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands NOT_TRANSLATED -en nl HP:0007599 rdfs:label Generalized reticulate brown pigmentation Gegeneraliseerde, reticulaire bruine huidpigmentatie CANDIDATE -en nl HP:0007601 rdfs:label Midline facial capillary hemangioma Faciaal capillair hemangioom in de middellijn CANDIDATE -en nl HP:0007602 rdfs:label Complex palmar dermatoglyphic pattern Complex palmair dermatoglyfisch patroon CANDIDATE -en nl HP:0007603 rdfs:label Freckles in sun-exposed areas Sproeten in aan zon blootgestelde gebieden CANDIDATE -en nl HP:0007605 rdfs:label Excessive wrinkling of palmar skin Overmatige gerimpelde palmaire huid CANDIDATE -en nl HP:0007606 rdfs:label Multiple cutaneous malignancies Multipele cutane maligniteiten CANDIDATE -en nl HP:0007607 rdfs:label Hypohidrotic ectodermal dysplasia Hypohidrotische ectodermale dysplasie CANDIDATE -en nl HP:0007608 rdfs:label Abnormal palmar dermal ridges Abnormal palmar dermal ridges NOT_TRANSLATED -en nl HP:0007609 rdfs:label Hypoproteinemic edema Hypoproteinemisch oedeem CANDIDATE -en nl HP:0007609 IAO:0000115 An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia) An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia) NOT_TRANSLATED -en nl HP:0007610 rdfs:label Blotching pigmentation of the skin Vlekkerige pigmentatie van de huid CANDIDATE -en nl HP:0007613 rdfs:label Spinous keratoses of palms and soles Spineuse keratose van palmen en zolen CANDIDATE -en nl HP:0007616 rdfs:label Nevus flammeus nuchae Naevus flammeus nuchae CANDIDATE -en nl HP:0007616 IAO:0000115 Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns NOT_TRANSLATED -en nl HP:0007617 rdfs:label Fine, reticulate skin pigmentation Fijne, reticulaire huidpigmentatie CANDIDATE -en nl HP:0007618 rdfs:label Subcutaneous calcification Subcutane calcificatie CANDIDATE -en nl HP:0007618 IAO:0000115 Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument) Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument) NOT_TRANSLATED -en nl HP:0007620 rdfs:label Cutaneous leiomyoma Cutaan leiomoyoom CANDIDATE -en nl HP:0007620 IAO:0000115 The presence of leiomyoma of the skin The presence of leiomyoma of the skin NOT_TRANSLATED -en nl HP:0007621 rdfs:label Telangiectasia of extensor surfaces Teleangiëctasie van de extensor oppervlakten CANDIDATE -en nl HP:0007623 rdfs:label Pigmentation anomalies of sun-exposed skin Pigmentatie afwijkingen van aan zon-blootgestelde huid CANDIDATE -en nl HP:0007626 rdfs:label Mandibular osteomyelitis Mandibulaire osteomyelitis CANDIDATE -en nl HP:0007626 IAO:0000115 Osteomyelitis of the lower jaw Osteomyelitis of the lower jaw NOT_TRANSLATED -en nl HP:0007627 rdfs:label Mandibular condyle aplasia Aplasie van de condyl van de mandibula CANDIDATE -en nl HP:0007628 rdfs:label Mandibular condyle hypoplasia Hypoplasie van de condyl van de mandibula CANDIDATE -en nl HP:0007633 rdfs:label Bilateral microphthalmos Bilaterale microftalmie CANDIDATE -en nl HP:0007633 IAO:0000115 A developmental anomaly characterized by abnormal smallness of both eyes A developmental anomaly characterized by abnormal smallness of both eyes NOT_TRANSLATED -en nl HP:0007634 rdfs:label Nonarteritic anterior ischemic optic neuropathy Niet-arteritische anterieure ischemische opticusneuropathie CANDIDATE -en nl HP:0007634 IAO:0000115 An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates NOT_TRANSLATED -en nl HP:0007641 rdfs:label Dyschromatopsia Dyschromatopsie CANDIDATE -en nl HP:0007641 IAO:0000115 A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments NOT_TRANSLATED -en nl HP:0007642 rdfs:label Congenital stationary night blindness Congenitale stationaire nachtblindheid CANDIDATE -en nl HP:0007642 IAO:0000115 A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset NOT_TRANSLATED -en nl HP:0007643 rdfs:label Peripheral tractional retinal detachment Perifere tractionele netvliesloslating CANDIDATE -en nl HP:0007643 IAO:0000115 Tractional retinal detachment at the periphery of the retina Tractional retinal detachment at the periphery of the retina NOT_TRANSLATED -en nl HP:0007646 rdfs:label Absent lower eyelashes Afwezige onderste wimpers CANDIDATE -en nl HP:0007646 IAO:0000115 Lack of eyelashes on the lower lid Lack of eyelashes on the lower lid NOT_TRANSLATED -en nl HP:0007647 rdfs:label Congenital extraocular muscle anomaly Congenitale extra-oculaire spier afwijking CANDIDATE -en nl HP:0007647 IAO:0000115 Congenital abnormality of the extraocular muscles Congenital abnormality of the extraocular muscles NOT_TRANSLATED -en nl HP:0007648 rdfs:label Punctate cataract Punctate cataract NOT_TRANSLATED -en nl HP:0007648 IAO:0000115 A type of cataract with punctate opacities of the lens A type of cataract with punctate opacities of the lens NOT_TRANSLATED -en nl HP:0007649 rdfs:label Congenital hypertrophy of retinal pigment epithelium Congenitale hypertrofie van retina pigment epitheel CANDIDATE -en nl HP:0007649 IAO:0000115 Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0007650 rdfs:label Progressive ophthalmoplegia Progressieve oftalmoplegie CANDIDATE -en nl HP:0007651 rdfs:label Ectropion of lower eyelids Ectropion van de onderste wimpers CANDIDATE -en nl HP:0007655 rdfs:label Eversion of lateral third of lower eyelids Eversie van laterale 1/3 van onderste oogleden CANDIDATE -en nl HP:0007656 rdfs:label Lacrimal gland aplasia Aplasie van de traanklier CANDIDATE -en nl HP:0007656 IAO:0000115 A congenital defect of development characterized by absence of the lacrimal gland A congenital defect of development characterized by absence of the lacrimal gland NOT_TRANSLATED -en nl HP:0007657 rdfs:label Diffuse nuclear cataract Diffuus nucleair cataract CANDIDATE -en nl HP:0007657 IAO:0000115 Opacity of the entire lens nucleus Opacity of the entire lens nucleus NOT_TRANSLATED -en nl HP:0007658 rdfs:label Large hyperpigmented retinal spots Grote gehyperpigmenteerde retina vlekken CANDIDATE -en nl HP:0007661 rdfs:label Abnormality of chorioretinal pigmentation Afwijkende chorioretinale pigmentatie CANDIDATE -en nl HP:0007663 rdfs:label Reduced visual acuity Verminderde visus CANDIDATE -en nl HP:0007665 rdfs:label Curly eyelashes Krullende wimpers CANDIDATE -en nl HP:0007665 IAO:0000115 Abnormally curly or curved eyelashes Abnormally curly or curved eyelashes NOT_TRANSLATED -en nl HP:0007667 rdfs:label Peripheral cystoid retinal degeneration Perifere cystoïde retina degeneratie CANDIDATE -en nl HP:0007667 IAO:0000115 Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly NOT_TRANSLATED -en nl HP:0007668 rdfs:label Impaired pursuit initiation and maintenance Verminderde volg initiatie en volhouden CANDIDATE -en nl HP:0007670 rdfs:label Abnormal vestibulo-ocular reflex Afwijkende vestibulo-oculaire reflex CANDIDATE -en nl HP:0007670 IAO:0000115 An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude NOT_TRANSLATED -en nl HP:0007675 rdfs:label Progressive night blindness Progressieve nachtblindheid CANDIDATE -en nl HP:0007676 rdfs:label Hypoplasia of the iris Hypoplasie van de iris CANDIDATE -en nl HP:0007676 IAO:0000115 Congenital underdevelopment of the iris Congenital underdevelopment of the iris NOT_TRANSLATED -en nl HP:0007677 rdfs:label Vitelliform-like macular lesions Vitelliform-achtige macula laesies CANDIDATE -en nl HP:0007677 IAO:0000115 Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula NOT_TRANSLATED -en nl HP:0007678 rdfs:label Lacrimal duct stenosis Stenose van de traanbuis CANDIDATE -en nl HP:0007678 IAO:0000115 Narrowing of a tear duct (lacrimal duct) Narrowing of a tear duct (lacrimal duct) NOT_TRANSLATED -en nl HP:0007680 rdfs:label Depigmented fundus Gedepigmenteerde fundus CANDIDATE -en nl HP:0007685 rdfs:label Peripheral retinal avascularization Perifere retina avascularisatie CANDIDATE -en nl HP:0007686 rdfs:label Abnormal pupillary function Afwijkende pupil functie CANDIDATE -en nl HP:0007686 IAO:0000115 A functional abnormality of the pupil A functional abnormality of the pupil NOT_TRANSLATED -en nl HP:0007687 rdfs:label Unilateral ptosis Unilaterale ptosis CANDIDATE -en nl HP:0007687 IAO:0000115 A unilateral form of ptosis A unilateral form of ptosis NOT_TRANSLATED -en nl HP:0007688 rdfs:label Undetectable light- and dark-adapted electroretinogram Niet detecteerbaar licht- en donker-aangepast elektroretinogram CANDIDATE -en nl HP:0007688 IAO:0000115 Absence of the combined rod-and-cone response on electroretinogram Absence of the combined rod-and-cone response on electroretinogram NOT_TRANSLATED -en nl HP:0007690 rdfs:label Map-dot-fingerprint corneal dystrophy Map-dot-fingerprint corneal dystrophy NOT_TRANSLATED -en nl HP:0007695 rdfs:label Abnormal pupillary light reflex Afwijkende pupilreflex CANDIDATE -en nl HP:0007695 IAO:0000115 An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye NOT_TRANSLATED -en nl HP:0007697 rdfs:label Hypoplasia of the lower eyelids Hypoplasie van de onderste oogleden CANDIDATE -en nl HP:0007697 IAO:0000115 Underdevelopment of the lower eyelid Underdevelopment of the lower eyelid NOT_TRANSLATED -en nl HP:0007700 rdfs:label Ocular anterior segment dysgenesis Anterieure segment dysgenesie CANDIDATE -en nl HP:0007700 IAO:0000115 Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin NOT_TRANSLATED -en nl HP:0007703 rdfs:label Abnormality of retinal pigmentation Afwijking van retinale pigmentatie CANDIDATE -en nl HP:0007704 rdfs:label Paroxysmal involuntary eye movements Paroxysmale onwillekeurige oogbewegingen CANDIDATE -en nl HP:0007704 IAO:0000115 Sudden-onset episode of abnormal, involuntary eye movements Sudden-onset episode of abnormal, involuntary eye movements NOT_TRANSLATED -en nl HP:0007705 rdfs:label Corneal degeneration Corneale degeneratie CANDIDATE -en nl HP:0007707 rdfs:label Congenital aphakia Afakie CANDIDATE -en nl HP:0007707 IAO:0000115 Absence of the crystalline lens of the eye as a result of a developmental defect Absence of the crystalline lens of the eye as a result of a developmental defect NOT_TRANSLATED -en nl HP:0007708 rdfs:label Absent inner eyelashes Afwezige binnenste wimpers CANDIDATE -en nl HP:0007709 rdfs:label Band-shaped corneal dystrophy Band-vormige cornea dystrofie CANDIDATE -en nl HP:0007709 IAO:0000115 A type of genetically determined disease of the cornea with corneal lesions with a band-like shape A type of genetically determined disease of the cornea with corneal lesions with a band-like shape NOT_TRANSLATED -en nl HP:0007710 rdfs:label Peripheral vitreous opacities Perifere glasvocht opaciteiten CANDIDATE -en nl HP:0007715 rdfs:label Weak extraocular muscles Zwakke extraoculaire spieren CANDIDATE -en nl HP:0007716 rdfs:label Uveal melanoma Intraoculair melanoom CANDIDATE -en nl HP:0007716 IAO:0000115 A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid) A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid) NOT_TRANSLATED -en nl HP:0007717 rdfs:label Chronic irritative conjunctivitis Chronische irritatieve conjunctivitis CANDIDATE -en nl HP:0007717 IAO:0000115 A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes NOT_TRANSLATED -en nl HP:0007720 rdfs:label Flat cornea Vlakke cornea CANDIDATE -en nl HP:0007720 IAO:0000115 Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age NOT_TRANSLATED -en nl HP:0007721 rdfs:label Saccular conjunctival dilatations Sacculaire conjunctivale dilataties CANDIDATE -en nl HP:0007721 IAO:0000115 Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva NOT_TRANSLATED -en nl HP:0007722 rdfs:label Retinal pigment epithelial atrophy Retina pigment epitheel atrofie CANDIDATE -en nl HP:0007722 IAO:0000115 Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging NOT_TRANSLATED -en nl HP:0007727 rdfs:label Opacification of the corneal epithelium Opacificatie van corneaal epitheel CANDIDATE -en nl HP:0007727 IAO:0000115 Lack of transparency of the corneal epithelium Lack of transparency of the corneal epithelium NOT_TRANSLATED -en nl HP:0007728 rdfs:label Congenital miosis Congenitale miosis CANDIDATE -en nl HP:0007728 IAO:0000115 Abnormal (non-physiological) constriction of the pupil of congenital onset Abnormal (non-physiological) constriction of the pupil of congenital onset NOT_TRANSLATED -en nl HP:0007730 rdfs:label Iris hypopigmentation Iris hypopigmentatie CANDIDATE -en nl HP:0007730 IAO:0000115 An abnormal reduction in the amount of pigmentation of the iris An abnormal reduction in the amount of pigmentation of the iris NOT_TRANSLATED -en nl HP:0007731 rdfs:label Chorioretinal dysplasia Chorioretinale dysplasie CANDIDATE -en nl HP:0007731 IAO:0000115 Abnormal development of the choroid and retina Abnormal development of the choroid and retina NOT_TRANSLATED -en nl HP:0007732 rdfs:label Lacrimal gland hypoplasia Hypoplasie van de traanklier CANDIDATE -en nl HP:0007732 IAO:0000115 Underdevelopment of the lacrimal gland Underdevelopment of the lacrimal gland NOT_TRANSLATED -en nl HP:0007733 rdfs:label Laterally curved eyebrow Lateraal gebogen wenkbrauw CANDIDATE -en nl HP:0007734 rdfs:label Enlarged lacrimal glands Vergrote traanklieren CANDIDATE -en nl HP:0007734 IAO:0000115 Abnormally big lacrimal glands Abnormally big lacrimal glands NOT_TRANSLATED -en nl HP:0007737 rdfs:label Bone spicule pigmentation of the retina Bone spicule pigmentation of the retina NOT_TRANSLATED -en nl HP:0007737 IAO:0000115 Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone) Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone) NOT_TRANSLATED -en nl HP:0007738 rdfs:label Uncontrolled eye movements Ongecontroleerde oogbewegingen CANDIDATE -en nl HP:0007740 rdfs:label Long eyelashes in irregular rows Lange wimpers in onregelmatige rijen CANDIDATE -en nl HP:0007747 rdfs:label Monocular horizontal nystagmus Monoculaire horizontale nystagmus CANDIDATE -en nl HP:0007750 rdfs:label Hypoplasia of the fovea Hypoplasie van de fovea CANDIDATE -en nl HP:0007750 IAO:0000115 Underdevelopment of the fovea centralis Underdevelopment of the fovea centralis NOT_TRANSLATED -en nl HP:0007754 rdfs:label Macular dystrophy Macula dystrofie CANDIDATE -en nl HP:0007754 IAO:0000115 Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident NOT_TRANSLATED -en nl HP:0007755 rdfs:label Juvenile epithelial corneal dystrophy Juveniele epitheliale corneadystrofie CANDIDATE -en nl HP:0007759 rdfs:label Opacification of the corneal stroma Opacificatie van cornea stroma CANDIDATE -en nl HP:0007759 IAO:0000115 Reduced transparency of the stroma of cornea Reduced transparency of the stroma of cornea NOT_TRANSLATED -en nl HP:0007760 rdfs:label Crystalline corneal dystrophy Kristallijn corneadystrofie CANDIDATE -en nl HP:0007761 rdfs:label Pericentral scotoma Pericentraal scotoom CANDIDATE -en nl HP:0007761 IAO:0000115 A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point NOT_TRANSLATED -en nl HP:0007763 rdfs:label Retinal telangiectasia Retinale telangiëctasiën CANDIDATE -en nl HP:0007763 IAO:0000115 Dilatation of small blood vessels of the retina Dilatation of small blood vessels of the retina NOT_TRANSLATED -en nl HP:0007765 rdfs:label Deep anterior chamber Diepe voorste kamer CANDIDATE -en nl HP:0007765 IAO:0000115 Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased NOT_TRANSLATED -en nl HP:0007766 rdfs:label Optic disc hypoplasia Optische schijf hypoplasie CANDIDATE -en nl HP:0007766 IAO:0000115 Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve NOT_TRANSLATED -en nl HP:0007768 rdfs:label Central retinal vessel vascular tortuosity Centrale retinale vasculaire kronkeligheid CANDIDATE -en nl HP:0007768 IAO:0000115 The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules) The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules) NOT_TRANSLATED -en nl HP:0007769 rdfs:label Peripheral retinal degeneration Perifere retina degeneratie CANDIDATE -en nl HP:0007770 rdfs:label Hypoplasia of the retina Hypoplasie van de retina CANDIDATE -en nl HP:0007772 rdfs:label Impaired smooth pursuit Verminderde soepele volgbewegingen CANDIDATE -en nl HP:0007772 IAO:0000115 An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion NOT_TRANSLATED -en nl HP:0007773 rdfs:label Vitreoretinopathy Vitreoretinopathie CANDIDATE -en nl HP:0007773 IAO:0000115 Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment NOT_TRANSLATED -en nl HP:0007774 rdfs:label Hypoplasia of the ciliary body Hypoplasie van het straalvormig lichaam CANDIDATE -en nl HP:0007774 IAO:0000115 Underdevelopment of the ciliary body Underdevelopment of the ciliary body NOT_TRANSLATED -en nl HP:0007776 rdfs:label Sparse lower eyelashes Spaarzame onderste wimpers CANDIDATE -en nl HP:0007777 rdfs:label Chorioretinal scar Chorioretinaal litteken CANDIDATE -en nl HP:0007777 IAO:0000115 Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye NOT_TRANSLATED -en nl HP:0007778 rdfs:label Posterior retinal neovascularization Posterieure retinale neovascularisatie CANDIDATE -en nl HP:0007778 IAO:0000115 A type of retinal neovascularization that affects the posterior pole of the retina A type of retinal neovascularization that affects the posterior pole of the retina NOT_TRANSLATED -en nl HP:0007779 rdfs:label Anterior segment of eye aplasia Anterieur segment van oog aplasie CANDIDATE -en nl HP:0007780 rdfs:label Cortical pulverulent cataract Corticaal pulverachtige cataract CANDIDATE -en nl HP:0007780 IAO:0000115 A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens NOT_TRANSLATED -en nl HP:0007787 rdfs:label Posterior subcapsular cataract Posterieur subcapsulair cataract CANDIDATE -en nl HP:0007787 IAO:0000115 A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule NOT_TRANSLATED -en nl HP:0007791 rdfs:label Patchy atrophy of the retinal pigment epithelium Fragmentarische atrofie van het retina pigment epitheel CANDIDATE -en nl HP:0007791 IAO:0000115 Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas NOT_TRANSLATED -en nl HP:0007792 rdfs:label Microsaccadic pursuit Microsaccadische volgbeweging CANDIDATE -en nl HP:0007793 rdfs:label Granular macular appearance Granulaire macula verschijning CANDIDATE -en nl HP:0007793 IAO:0000115 Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea NOT_TRANSLATED -en nl HP:0007795 rdfs:label Anterior cortical cataract Anterieur corticaal cataract CANDIDATE -en nl HP:0007795 IAO:0000115 A cataract that affects the anterior part of the cortex of the lens A cataract that affects the anterior part of the cortex of the lens NOT_TRANSLATED -en nl HP:0007797 rdfs:label Retinal vascular malformation Retinale vasculaire malformatie CANDIDATE -en nl HP:0007799 rdfs:label Conjunctival whitish salt-like deposits Conjunctivale witachtige zout-achtige deposities CANDIDATE -en nl HP:0007799 IAO:0000115 The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis NOT_TRANSLATED -en nl HP:0007800 rdfs:label Increased axial length of the globe Toegenomen axiale lengte van de oogbol CANDIDATE -en nl HP:0007800 IAO:0000115 Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean NOT_TRANSLATED -en nl HP:0007802 rdfs:label Granular corneal dystrophy Granulaire cornea dystrofie CANDIDATE -en nl HP:0007802 IAO:0000115 The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material NOT_TRANSLATED -en nl HP:0007803 rdfs:label Monochromacy Monochromacy CANDIDATE -en nl HP:0007803 IAO:0000115 Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray NOT_TRANSLATED -en nl HP:0007807 rdfs:label Optic nerve compression Nervus opticus compressie CANDIDATE -en nl HP:0007809 rdfs:label Punctate corneal dystrophy Punctate corneal dystrophy NOT_TRANSLATED -en nl HP:0007811 rdfs:label Horizontal pendular nystagmus Horizontale pendulaire nystagmus CANDIDATE -en nl HP:0007811 IAO:0000115 Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity NOT_TRANSLATED -en nl HP:0007812 rdfs:label Herpetiform corneal ulceration Herpetiforme corneale ulceratie CANDIDATE -en nl HP:0007812 IAO:0000115 The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining NOT_TRANSLATED -en nl HP:0007813 rdfs:label Nongranulomatous uveitis Niet-granulomateuze uveïtis CANDIDATE -en nl HP:0007813 IAO:0000115 A form of uveitis that is not associated with the formation of granulomas A form of uveitis that is not associated with the formation of granulomas NOT_TRANSLATED -en nl HP:0007814 rdfs:label Retinal pigment epithelial mottling Retina pigment epitheel vlekken CANDIDATE -en nl HP:0007814 IAO:0000115 Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0007815 rdfs:label Abnormal distribution of retinal arterioles and venules Afwijkende verdeling van retinale arterioles en venules CANDIDATE -en nl HP:0007817 rdfs:label Horizontal supranuclear gaze palsy Horizontale supranucleaire blik parese CANDIDATE -en nl HP:0007817 IAO:0000115 A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal NOT_TRANSLATED -en nl HP:0007818 rdfs:label Central heterochromia Centrale heterochromie CANDIDATE -en nl HP:0007818 IAO:0000115 The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone NOT_TRANSLATED -en nl HP:0007819 rdfs:label Presenile cataracts Preseniele cataract CANDIDATE -en nl HP:0007819 IAO:0000115 Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual NOT_TRANSLATED -en nl HP:0007820 rdfs:label Lacrimal punctal atresia Punctum lacrimale atresie CANDIDATE -en nl HP:0007820 IAO:0000115 Congenital absence or closure of the opening of the lacrimal punctum Congenital absence or closure of the opening of the lacrimal punctum NOT_TRANSLATED -en nl HP:0007822 rdfs:label Central retinal exudate Centraal retinaal exsudaat CANDIDATE -en nl HP:0007824 rdfs:label Total ophthalmoplegia Totale oftalmoplegie CANDIDATE -en nl HP:0007824 IAO:0000115 Paralysis of both the extrinsic and intrinsic ocular muscles Paralysis of both the extrinsic and intrinsic ocular muscles NOT_TRANSLATED -en nl HP:0007827 rdfs:label Nodular corneal dystrophy Nodulaire cornea dystrofie CANDIDATE -en nl HP:0007830 rdfs:label Adult-onset night blindness Adult-onset nachtblindheid CANDIDATE -en nl HP:0007830 IAO:0000115 Inability to see well at night or in poor light with onset in adulthood Inability to see well at night or in poor light with onset in adulthood NOT_TRANSLATED -en nl HP:0007831 rdfs:label Nonprogressive restrictive external ophthalmoplegia Niet-progressieve restrictieve externe oftalmoplegie CANDIDATE -en nl HP:0007831 IAO:0000115 Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited NOT_TRANSLATED -en nl HP:0007832 rdfs:label Pigmentation of the sclera Pigmentatie van de sclera CANDIDATE -en nl HP:0007833 rdfs:label Anterior chamber synechiae Voorste oogkamer synechiae CANDIDATE -en nl HP:0007834 rdfs:label Progressive cataract Progressief cataract CANDIDATE -en nl HP:0007834 IAO:0000115 A kind of cataract that progresses with age A kind of cataract that progresses with age NOT_TRANSLATED -en nl HP:0007835 rdfs:label S-shaped palpebral fissures S-vormige ooglidspleten CANDIDATE -en nl HP:0007836 rdfs:label Mosaic corneal dystrophy Mozaïek cornea dystrofie CANDIDATE -en nl HP:0007838 rdfs:label Progressive ptosis Progressieve ptosis CANDIDATE -en nl HP:0007838 IAO:0000115 A progressive form of ptosis A progressive form of ptosis NOT_TRANSLATED -en nl HP:0007840 rdfs:label Long upper eyelashes Lange bovenste wimpers CANDIDATE -en nl HP:0007840 IAO:0000115 Increased length of the upper eyelashes Increased length of the upper eyelashes NOT_TRANSLATED -en nl HP:0007841 rdfs:label Amyloid deposition in the vitreous humor Amyloïd depositie in glasachtig lichaam CANDIDATE -en nl HP:0007841 IAO:0000115 Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity NOT_TRANSLATED -en nl HP:0007843 rdfs:label Attenuation of retinal blood vessels Verzwakking van retinale bloedvaten CANDIDATE -en nl HP:0007850 rdfs:label Retinal vascular proliferation Retinale vasculaire proliferatie CANDIDATE -en nl HP:0007854 rdfs:label Glaucomatous visual field defect Glaucomateus gezichtsvelddefect CANDIDATE -en nl HP:0007856 rdfs:label Punctate opacification of the cornea Punctate opacification of the cornea NOT_TRANSLATED -en nl HP:0007856 IAO:0000115 Punctate opacification (reduced transparency) of the corneal stroma Punctate opacification (reduced transparency) of the corneal stroma NOT_TRANSLATED -en nl HP:0007858 rdfs:label Chorioretinal lacunae Chorioretinale lacunae CANDIDATE -en nl HP:0007858 IAO:0000115 Punched out lesions in the pigmented layer of the retina Punched out lesions in the pigmented layer of the retina NOT_TRANSLATED -en nl HP:0007859 rdfs:label Congenital horizontal nystagmus Congenitale horizontale nystagmus CANDIDATE -en nl HP:0007859 IAO:0000115 Horizontal nystagmus dating from or present at birth Horizontal nystagmus dating from or present at birth NOT_TRANSLATED -en nl HP:0007862 rdfs:label Retinal calcification Retinale calcificatie CANDIDATE -en nl HP:0007862 IAO:0000115 Deposition of calcium salts in the retina Deposition of calcium salts in the retina NOT_TRANSLATED -en nl HP:0007866 rdfs:label Retinal infarction Retina-infarct CANDIDATE -en nl HP:0007867 rdfs:label Restrictive partial external ophthalmoplegia Restrictieve partiële externe oftalmoplegie CANDIDATE -en nl HP:0007867 IAO:0000115 Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position NOT_TRANSLATED -en nl HP:0007872 rdfs:label Choroidal hemangioma Choroïdaal hemangioom CANDIDATE -en nl HP:0007872 IAO:0000115 The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas NOT_TRANSLATED -en nl HP:0007873 rdfs:label Abnormally prominent line of Schwalbe Abnormaal prominente lijn van Schwalbe CANDIDATE -en nl HP:0007874 rdfs:label Almond-shaped palpebral fissure Amandelvormige ooglidspleet CANDIDATE -en nl HP:0007874 IAO:0000115 A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point NOT_TRANSLATED -en nl HP:0007875 rdfs:label Congenital blindness Congenitale blindheid CANDIDATE -en nl HP:0007875 IAO:0000115 Blindness with onset at birth Blindness with onset at birth NOT_TRANSLATED -en nl HP:0007879 rdfs:label Allergic conjunctivitis Allergische conjunctivitis CANDIDATE -en nl HP:0007879 IAO:0000115 Allergic Conjunctivitis is an allergic inflammation of the conjunctiva Allergic Conjunctivitis is an allergic inflammation of the conjunctiva NOT_TRANSLATED -en nl HP:0007880 rdfs:label Marginal corneal dystrophy Marginale cornea dystrofie CANDIDATE -en nl HP:0007881 rdfs:label Central corneal dystrophy Centrale cornea dystrofie CANDIDATE -en nl HP:0007885 rdfs:label Slowed horizontal saccades Vertraagde horizontale saccades CANDIDATE -en nl HP:0007885 IAO:0000115 An abnormally slow velocity of horizontal saccadic eye movements An abnormally slow velocity of horizontal saccadic eye movements NOT_TRANSLATED -en nl HP:0007886 rdfs:label Absent extraocular muscles Afwezige extra-oculaire spieren CANDIDATE -en nl HP:0007886 IAO:0000115 Congenital absence of the extraocular muscles Congenital absence of the extraocular muscles NOT_TRANSLATED -en nl HP:0007889 rdfs:label Iridescent posterior subcapsular cataract Iriserend posterieur subcapsulair staar CANDIDATE -en nl HP:0007889 IAO:0000115 A type of posterior subcapsular cataract characterized by an iridescent color A type of posterior subcapsular cataract characterized by an iridescent color NOT_TRANSLATED -en nl HP:0007892 rdfs:label Hypoplasia of the lacrimal punctum Hypoplasie van het punctum lacrimale CANDIDATE -en nl HP:0007892 IAO:0000115 Underdevelopment of the lacrimal puncta Underdevelopment of the lacrimal puncta NOT_TRANSLATED -en nl HP:0007894 rdfs:label Hypopigmentation of the fundus Hypopigmentatie van de fundus CANDIDATE -en nl HP:0007894 IAO:0000115 Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) NOT_TRANSLATED -en nl HP:0007898 rdfs:label Exudative retinopathy Exsudatieve retinopathie CANDIDATE -en nl HP:0007899 rdfs:label Retinal nonattachment Retinale niet-hechting CANDIDATE -en nl HP:0007899 IAO:0000115 Failure of attachment of the retina during development Failure of attachment of the retina during development NOT_TRANSLATED -en nl HP:0007900 rdfs:label Hypoplastic lacrimal duct Hypoplastisch traanbuis CANDIDATE -en nl HP:0007902 rdfs:label Vitreous hemorrhage Glasvocht bloeding CANDIDATE -en nl HP:0007902 IAO:0000115 Bleeding within the vitreous compartment of the eye Bleeding within the vitreous compartment of the eye NOT_TRANSLATED -en nl HP:0007903 rdfs:label Paravenous chorioretinal atrophy Paraveneuze chorioretinale atrofie CANDIDATE -en nl HP:0007903 IAO:0000115 Chorioretinal atrophy along the retinal veins Chorioretinal atrophy along the retinal veins NOT_TRANSLATED -en nl HP:0007905 rdfs:label Abnormal iris vasculature Afwijkende iris vasculatuur CANDIDATE -en nl HP:0007906 rdfs:label Ocular hypertension Verhoogde intra-oculaire druk CANDIDATE -en nl HP:0007906 IAO:0000115 Intraocular pressure that is 2 standard deviations above the population mean Intraocular pressure that is 2 standard deviations above the population mean NOT_TRANSLATED -en nl HP:0007911 rdfs:label Congenital bilateral ptosis Congenitale bilaterale ptosis CANDIDATE -en nl HP:0007913 rdfs:label Reticular retinal dystrophy Reticulaire retinale dystrofie CANDIDATE -en nl HP:0007913 IAO:0000115 A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation NOT_TRANSLATED -en nl HP:0007915 rdfs:label Polymorphous posterior corneal dystrophy Polymorfe posterieure cornea dystrofie CANDIDATE -en nl HP:0007915 IAO:0000115 This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma NOT_TRANSLATED -en nl HP:0007917 rdfs:label Tractional retinal detachment Tractionele netvliesloslating CANDIDATE -en nl HP:0007917 IAO:0000115 A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes NOT_TRANSLATED -en nl HP:0007922 rdfs:label Hypermyelinated retinal nerve fibers Gehypermyeliniseerde retinale zenuwvezels CANDIDATE -en nl HP:0007924 rdfs:label Slow decrease in visual acuity Langzame vermindering van visus CANDIDATE -en nl HP:0007925 rdfs:label Lacrimal duct aplasia Aplasie van de traanbuis CANDIDATE -en nl HP:0007925 IAO:0000115 A congenital defect resulting in absence of the lacrimal duct A congenital defect resulting in absence of the lacrimal duct NOT_TRANSLATED -en nl HP:0007928 rdfs:label Abnormal flash visual evoked potentials Abnormal flash visual evoked potentials NOT_TRANSLATED -en nl HP:0007928 IAO:0000115 Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room NOT_TRANSLATED -en nl HP:0007929 rdfs:label Peripheral retinal detachment Perifere netvliesloslating CANDIDATE -en nl HP:0007929 IAO:0000115 Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina NOT_TRANSLATED -en nl HP:0007932 rdfs:label Bilateral congenital mydriasis Bilaterale congenitale mydriasis CANDIDATE -en nl HP:0007932 IAO:0000115 Congenital abnormal dilation of the pupil on both sides Congenital abnormal dilation of the pupil on both sides NOT_TRANSLATED -en nl HP:0007933 rdfs:label Broad lateral eyebrow Brede laterale wenkbrauw CANDIDATE -en nl HP:0007933 IAO:0000115 Regional increase in the width (height) of the lateral eyebrow Regional increase in the width (height) of the lateral eyebrow NOT_TRANSLATED -en nl HP:0007935 rdfs:label Juvenile posterior subcapsular lenticular opacities Juveniele posterieure subcapsulaire lenticulaire opaciteiten CANDIDATE -en nl HP:0007936 rdfs:label Restrictive external ophthalmoplegia Restrictieve externe oftalmoplegie CANDIDATE -en nl HP:0007936 IAO:0000115 Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited NOT_TRANSLATED -en nl HP:0007937 rdfs:label Reticular pigmentary degeneration Reticulaire pigment degeneratie CANDIDATE -en nl HP:0007937 IAO:0000115 A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus NOT_TRANSLATED -en nl HP:0007939 rdfs:label Blue cone monochromacy Blauwe kegel monochromasie CANDIDATE -en nl HP:0007939 IAO:0000115 A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors NOT_TRANSLATED -en nl HP:0007941 rdfs:label Limited extraocular movements Beperkte extra-oculaire bewegingen CANDIDATE -en nl HP:0007941 IAO:0000115 Limited mobility of the eye within its socket Limited mobility of the eye within its socket NOT_TRANSLATED -en nl HP:0007942 rdfs:label Internal ophthalmoplegia Interne oftalmoplegie CANDIDATE -en nl HP:0007942 IAO:0000115 Paralysis of the iris and ciliary apparatus Paralysis of the iris and ciliary apparatus NOT_TRANSLATED -en nl HP:0007943 rdfs:label Congenital stapes ankylosis Congenitale stapes ankylose CANDIDATE -en nl HP:0007943 IAO:0000115 A form of stapes ankylosis with congenital onset A form of stapes ankylosis with congenital onset NOT_TRANSLATED -en nl HP:0007944 rdfs:label Intermittent microsaccadic pursuits Intermitterende microsaccadische volgbewegingen CANDIDATE -en nl HP:0007946 rdfs:label Unilateral narrow palpebral fissure Unilaterale smalle ooglidspleet CANDIDATE -en nl HP:0007946 IAO:0000115 A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only NOT_TRANSLATED -en nl HP:0007947 rdfs:label Pericentral retinitis pigmentosa Pericentrale retinitis pigmentosa CANDIDATE -en nl HP:0007947 IAO:0000115 A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery NOT_TRANSLATED -en nl HP:0007948 rdfs:label Dense posterior cortical cataract Dicht posterieur corticaal cataract CANDIDATE -en nl HP:0007948 IAO:0000115 A type of posterior cortical cataract characterized by dense lenticular opacities A type of posterior cortical cataract characterized by dense lenticular opacities NOT_TRANSLATED -en nl HP:0007950 rdfs:label Peripapillary chorioretinal atrophy Peripapillaire chorioretinale atrofie CANDIDATE -en nl HP:0007950 IAO:0000115 Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head) Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head) NOT_TRANSLATED -en nl HP:0007957 rdfs:label Corneal opacity Corneale opaciteit CANDIDATE -en nl HP:0007957 IAO:0000115 A reduction of corneal clarity A reduction of corneal clarity NOT_TRANSLATED -en nl HP:0007958 rdfs:label Optic atrophy from cranial nerve compression Optische atrofie van craniale zenuw compressie CANDIDATE -en nl HP:0007962 rdfs:label Speckled corneal dystrophy Gespikkelde cornea dystrofie CANDIDATE -en nl HP:0007963 rdfs:label Pattern dystrophy of the retina Patroon dystrofie van de retina CANDIDATE -en nl HP:0007963 IAO:0000115 A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation) A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation) NOT_TRANSLATED -en nl HP:0007964 rdfs:label Degenerative vitreoretinopathy Degeneratieve vitreoretinopathie CANDIDATE -en nl HP:0007965 rdfs:label Undetectable visual evoked potentials Ondetecteerbare visueel opgewerkte potentialen CANDIDATE -en nl HP:0007968 rdfs:label Remnants of the hyaloid vascular system Restanten van het hyaloïd-vasculair systeem CANDIDATE -en nl HP:0007968 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract NOT_TRANSLATED -en nl HP:0007970 rdfs:label Congenital ptosis Congenitale ptosis CANDIDATE -en nl HP:0007971 rdfs:label Lamellar cataract Lamellair catarac CANDIDATE -en nl HP:0007971 IAO:0000115 A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens NOT_TRANSLATED -en nl HP:0007973 rdfs:label Retinal dysplasia Retinale dysplasie CANDIDATE -en nl HP:0007973 IAO:0000115 The presence of developmental dysplasia of the retina The presence of developmental dysplasia of the retina NOT_TRANSLATED -en nl HP:0007975 rdfs:label Hypometric horizontal saccades Hypometrische horizontale saccades CANDIDATE -en nl HP:0007975 IAO:0000115 Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object NOT_TRANSLATED -en nl HP:0007976 rdfs:label Cerulean cataract Cataracta caerulea CANDIDATE -en nl HP:0007976 IAO:0000115 Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary NOT_TRANSLATED -en nl HP:0007979 rdfs:label Gaze-evoked horizontal nystagmus Door oogbeweging uitgelokte horizontale nystagmus CANDIDATE -en nl HP:0007979 IAO:0000115 Horizontal nystagmus made apparent by looking to the right or to the left Horizontal nystagmus made apparent by looking to the right or to the left NOT_TRANSLATED -en nl HP:0007980 rdfs:label Absent retinal pigment epithelium Afwezig retina pigment epitheel CANDIDATE -en nl HP:0007984 rdfs:label Electronegative electroretinogram Elektronegatief electroretinogram CANDIDATE -en nl HP:0007984 IAO:0000115 A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3) A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3) NOT_TRANSLATED -en nl HP:0007985 rdfs:label Retinal arteriolar occlusion Retinale arteriolaire occlusie CANDIDATE -en nl HP:0007985 IAO:0000115 Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina NOT_TRANSLATED -en nl HP:0007986 rdfs:label Increased retinal vascularity Toegenomen retinale vasculariteit CANDIDATE -en nl HP:0007987 rdfs:label Progressive visual field defects Pogressieve gezichtsveld defecten CANDIDATE -en nl HP:0007988 rdfs:label Macular hypopigmentation Macula hypopigmentatie CANDIDATE -en nl HP:0007988 IAO:0000115 Decreased amount of pigmentation in the macula lutea Decreased amount of pigmentation in the macula lutea NOT_TRANSLATED -en nl HP:0007989 rdfs:label Intraretinal exudate Intraretinaal exsudaat CANDIDATE -en nl HP:0007989 IAO:0000115 Retinal exudate within the retinal tissue itself Retinal exudate within the retinal tissue itself NOT_TRANSLATED -en nl HP:0007990 rdfs:label Hypoplastic iris stroma Hypoplastisch iris stroma CANDIDATE -en nl HP:0007990 IAO:0000115 Underdevelopment of the stroma of iris Underdevelopment of the stroma of iris NOT_TRANSLATED -en nl HP:0007992 rdfs:label Lattice retinal degeneration Lattice retinale degeneratie CANDIDATE -en nl HP:0007993 rdfs:label Malformed lacrimal duct Misvormde traanbuizen CANDIDATE -en nl HP:0007993 IAO:0000115 Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies NOT_TRANSLATED -en nl HP:0007994 rdfs:label Peripheral visual field loss Perifeer gezichtsveld verlies CANDIDATE -en nl HP:0007994 IAO:0000115 Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision NOT_TRANSLATED -en nl HP:0008000 rdfs:label Decreased corneal reflex Verminderde corneareflex CANDIDATE -en nl HP:0008000 IAO:0000115 An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids NOT_TRANSLATED -en nl HP:0008001 rdfs:label Foveal hyperpigmentation Foveale hyperpigmentatie CANDIDATE -en nl HP:0008001 IAO:0000115 Increased amount of pigmentation in the fovea centralis Increased amount of pigmentation in the fovea centralis NOT_TRANSLATED -en nl HP:0008002 rdfs:label Abnormality of macular pigmentation Afwijking van macula pigmentatie CANDIDATE -en nl HP:0008002 IAO:0000115 Abnormality of macular or foveal pigmentation Abnormality of macular or foveal pigmentation NOT_TRANSLATED -en nl HP:0008003 rdfs:label Jerky ocular pursuit movements Krampachtige oogvolgbewegingen CANDIDATE -en nl HP:0008007 rdfs:label Primary congenital glaucoma Primair congenitaal glaucoom CANDIDATE -en nl HP:0008009 rdfs:label Three rows of eyelashes Drie rijen van wimpers CANDIDATE -en nl HP:0008011 rdfs:label Peripheral opacification of the cornea Perifere opacificatie van de cornea CANDIDATE -en nl HP:0008011 IAO:0000115 Reduced transparency of the peripheral region of the cornea Reduced transparency of the peripheral region of the cornea NOT_TRANSLATED -en nl HP:0008014 rdfs:label Central fundal arteriolar microaneurysms Centrale fundus arteriolaire microaneurysmas CANDIDATE -en nl HP:0008014 IAO:0000115 Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc NOT_TRANSLATED -en nl HP:0008019 rdfs:label Superior lens subluxation Superior lens subluxation NOT_TRANSLATED -en nl HP:0008019 IAO:0000115 Partial dislocation of the lens in a superior direction Partial dislocation of the lens in a superior direction NOT_TRANSLATED -en nl HP:0008020 rdfs:label Cone dystrophy Progressieve kegel degeneratie CANDIDATE -en nl HP:0008020 IAO:0000115 Inherited progressive cone degeneration Inherited progressive cone degeneration NOT_TRANSLATED -en nl HP:0008026 rdfs:label Horizontal opticokinetic nystagmus Horizontale optokinetische nystagmus CANDIDATE -en nl HP:0008028 rdfs:label Cystoid macular degeneration Cystoid macula-oedeem CANDIDATE -en nl HP:0008028 IAO:0000115 A form of macular degeneration characterized by the presence of multiple cysts in the macula A form of macular degeneration characterized by the presence of multiple cysts in the macula NOT_TRANSLATED -en nl HP:0008030 rdfs:label Retinal arteritis Retinale arteritis CANDIDATE -en nl HP:0008031 rdfs:label Posterior Y-sutural cataract Posterior Y-sutural cataract NOT_TRANSLATED -en nl HP:0008031 IAO:0000115 A type of sutural cataract in which the opacity follows the posterior Y suture A type of sutural cataract in which the opacity follows the posterior Y suture NOT_TRANSLATED -en nl HP:0008034 rdfs:label Abnormal iris pigmentation Afwijkende iris pigmentatie CANDIDATE -en nl HP:0008034 IAO:0000115 Abnormal pigmentation of the iris Abnormal pigmentation of the iris NOT_TRANSLATED -en nl HP:0008035 rdfs:label Retinitis pigmentosa inversa Retinitis pigmentosa inversa CANDIDATE -en nl HP:0008035 IAO:0000115 Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery) Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery) NOT_TRANSLATED -en nl HP:0008037 rdfs:label Absent anterior chamber of the eye Afwezige voorste oogkamer CANDIDATE -en nl HP:0008037 IAO:0000115 Absence of the anterior chamber of the eye owing to a developmental defect Absence of the anterior chamber of the eye owing to a developmental defect NOT_TRANSLATED -en nl HP:0008038 rdfs:label Aplastic/hypoplastic lacrimal glands Aplastische/hypoplastische traanklieren CANDIDATE -en nl HP:0008038 IAO:0000115 Absence or underdevelopment of the lacrimal gland Absence or underdevelopment of the lacrimal gland NOT_TRANSLATED -en nl HP:0008039 rdfs:label Subepithelial corneal opacities Subepitheliale corneale opaciteiten CANDIDATE -en nl HP:0008041 rdfs:label Late onset congenital glaucoma Late-onset congenitaal glaucoom CANDIDATE -en nl HP:0008043 rdfs:label Retinal arteriolar constriction Retinale arteriolaire constrictie CANDIDATE -en nl HP:0008043 IAO:0000115 Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina NOT_TRANSLATED -en nl HP:0008045 rdfs:label Enlarged flash visual evoked potentials Enlarged flash visual evoked potentials NOT_TRANSLATED -en nl HP:0008046 rdfs:label Abnormal retinal vascular morphology Afwijking van de retina vasculatuur CANDIDATE -en nl HP:0008046 IAO:0000115 A structural abnormality of retinal vasculature A structural abnormality of retinal vasculature NOT_TRANSLATED -en nl HP:0008047 rdfs:label Abnormality of the vasculature of the eye Afwijking van het vasculatuur van het oog CANDIDATE -en nl HP:0008048 rdfs:label Abnormal line of Schwalbe morphology Afwijking van lijn van Schwalbe CANDIDATE -en nl HP:0008048 IAO:0000115 An abnormality of the line of Schwalbe An abnormality of the line of Schwalbe NOT_TRANSLATED -en nl HP:0008049 rdfs:label Abnormality of the extraocular muscles Afwijking van extra-oculaire spieren CANDIDATE -en nl HP:0008049 IAO:0000115 An abnormality of an extraocular muscle An abnormality of an extraocular muscle NOT_TRANSLATED -en nl HP:0008050 rdfs:label Abnormality of the palpebral fissures Afwijking van de ooglidspleten CANDIDATE -en nl HP:0008050 IAO:0000115 An anomaly of the space between the medial and lateral canthi of the two open eyelids An anomaly of the space between the medial and lateral canthi of the two open eyelids NOT_TRANSLATED -en nl HP:0008052 rdfs:label Retinal fold Retina plooi CANDIDATE -en nl HP:0008052 IAO:0000115 A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy NOT_TRANSLATED -en nl HP:0008053 rdfs:label Aplasia/Hypoplasia of the iris Aplasia/Hypoplasie van de iris CANDIDATE -en nl HP:0008053 IAO:0000115 Absence or underdevelopment of the iris Absence or underdevelopment of the iris NOT_TRANSLATED -en nl HP:0008054 rdfs:label Abnormal morphology of the conjunctival vasculature Afwijkende morfologie van de vasculatuur van de conjunctiva CANDIDATE -en nl HP:0008054 IAO:0000115 Any abnormality of the blood vessels of the conjunctiva Any abnormality of the blood vessels of the conjunctiva NOT_TRANSLATED -en nl HP:0008055 rdfs:label Aplasia/Hypoplasia affecting the uvea Aplasia/Hypoplasie van de uvea CANDIDATE -en nl HP:0008055 IAO:0000115 Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid NOT_TRANSLATED -en nl HP:0008056 rdfs:label Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasie van het oog CANDIDATE -en nl HP:0008057 rdfs:label Aplasia/Hypoplasia affecting the fundus Aplasia/Hypoplasie van de fundus CANDIDATE -en nl HP:0008058 rdfs:label Aplasia/Hypoplasia of the optic nerve Aplasia/Hypoplasie van de nervus opticus CANDIDATE -en nl HP:0008059 rdfs:label Aplasia/Hypoplasia of the macula Aplasia/Hypoplasie van de macula CANDIDATE -en nl HP:0008060 rdfs:label Aplasia/Hypoplasia of the fovea Aplasia/Hypoplasie van de fovea CANDIDATE -en nl HP:0008060 IAO:0000115 Congenital absence or underdevelopment of the fovea centralis Congenital absence or underdevelopment of the fovea centralis NOT_TRANSLATED -en nl HP:0008061 rdfs:label Aplasia/Hypoplasia of the retina Aplasia/Hypoplasie van de retina CANDIDATE -en nl HP:0008062 rdfs:label Aplasia/Hypoplasia affecting the anterior segment of the eye Aplasia/Hypoplasie van het anterieure segment van het oog CANDIDATE -en nl HP:0008062 IAO:0000115 Absence or underdevelopment of the anterior segment of the eye Absence or underdevelopment of the anterior segment of the eye NOT_TRANSLATED -en nl HP:0008063 rdfs:label Aplasia/Hypoplasia of the lens Aplasia/Hypoplasie van de lens CANDIDATE -en nl HP:0008063 IAO:0000115 Absence or underdevelopment of the lens Absence or underdevelopment of the lens NOT_TRANSLATED -en nl HP:0008064 rdfs:label Ichthyosis Ichthyosis CANDIDATE -en nl HP:0008064 IAO:0000115 An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization NOT_TRANSLATED -en nl HP:0008065 rdfs:label Aplasia/Hypoplasia of the skin Aplasia/Hypoplasie van de huid CANDIDATE -en nl HP:0008066 rdfs:label Abnormal blistering of the skin Afwijkende blaarvorming van de huid CANDIDATE -en nl HP:0008066 IAO:0000115 The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls NOT_TRANSLATED -en nl HP:0008067 rdfs:label Abnormally lax or hyperextensible skin Abnormaal slappe of hyperextensibele huid CANDIDATE -en nl HP:0008069 rdfs:label Neoplasm of the skin Neoplasma van de huid CANDIDATE -en nl HP:0008069 IAO:0000115 A tumor (abnormal growth of tissue) of the skin A tumor (abnormal growth of tissue) of the skin NOT_TRANSLATED -en nl HP:0008070 rdfs:label Sparse hair Spaarzaam haar CANDIDATE -en nl HP:0008070 IAO:0000115 Reduced density of hairs Reduced density of hairs NOT_TRANSLATED -en nl HP:0008071 rdfs:label Maternal hypertension Maternale hypertensie CANDIDATE -en nl HP:0008071 IAO:0000115 Increased blood pressure during a pregnancy Increased blood pressure during a pregnancy NOT_TRANSLATED -en nl HP:0008072 rdfs:label Maternal virilization in pregnancy Maternale virilisatie tijdens de zwangerschap CANDIDATE -en nl HP:0008072 IAO:0000115 Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum NOT_TRANSLATED -en nl HP:0008073 rdfs:label Low maternal circulating estriol concentration Laag maternaal serum estriol CANDIDATE -en nl HP:0008073 IAO:0000115 An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age NOT_TRANSLATED -en nl HP:0008074 rdfs:label Metatarsal periosteal thickening Metatarsale periosteale verdikking CANDIDATE -en nl HP:0008075 rdfs:label Progressive pes cavus Progressieve pes cavus CANDIDATE -en nl HP:0008075 IAO:0000115 The development of Pes cavus that is progressive with age The development of Pes cavus that is progressive with age NOT_TRANSLATED -en nl HP:0008076 rdfs:label Osteoporotic tarsals Osteoporotische tarsalen CANDIDATE -en nl HP:0008076 IAO:0000115 Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED -en nl HP:0008078 rdfs:label Thin metatarsal cortices Dikke metatarsale cortices CANDIDATE -en nl HP:0008079 rdfs:label Absent fifth metatarsal Afwezige vijfde metatarsaal CANDIDATE -en nl HP:0008079 IAO:0000115 A developmental abnormality characterized by the absence of the fifth metatarsal bone A developmental abnormality characterized by the absence of the fifth metatarsal bone NOT_TRANSLATED -en nl HP:0008080 rdfs:label Hallux varus Hallux varus CANDIDATE -en nl HP:0008080 IAO:0000115 Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially NOT_TRANSLATED -en nl HP:0008081 rdfs:label Pes valgus Pes valgus CANDIDATE -en nl HP:0008081 IAO:0000115 An outward deviation of the foot at the talocalcaneal or subtalar joint An outward deviation of the foot at the talocalcaneal or subtalar joint NOT_TRANSLATED -en nl HP:0008082 rdfs:label Medial deviation of the foot Mediale deviatie van de voet CANDIDATE -en nl HP:0008083 rdfs:label 2nd-5th toe middle phalangeal hypoplasia 2e-5e teen middelste falangeale hypoplasie CANDIDATE -en nl HP:0008087 rdfs:label Nonossified fifth metatarsal Niet-geossificeerde vijfde metatarsaal CANDIDATE -en nl HP:0008087 IAO:0000115 The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible NOT_TRANSLATED -en nl HP:0008089 rdfs:label Abnormality of the fifth metatarsal bone Afwijking van het vijfde metatarsale bot CANDIDATE -en nl HP:0008089 IAO:0000115 An anomaly of the fifth metatarsal bone An anomaly of the fifth metatarsal bone NOT_TRANSLATED -en nl HP:0008090 rdfs:label Ankylosis of feet small joints Ankylose van kleine gewrichten in voet CANDIDATE -en nl HP:0008093 rdfs:label Short 4th toe Korte 4e teen CANDIDATE -en nl HP:0008093 IAO:0000115 Underdevelopment (hypoplasia) of the fourth toe Underdevelopment (hypoplasia) of the fourth toe NOT_TRANSLATED -en nl HP:0008094 rdfs:label Widely spaced toes Ver uit elkaar staande tenen CANDIDATE -en nl HP:0008094 IAO:0000115 An overall widening of the spaces between the digits An overall widening of the spaces between the digits NOT_TRANSLATED -en nl HP:0008095 rdfs:label Osteolysis of talus Osteolyse van talus CANDIDATE -en nl HP:0008095 IAO:0000115 Osteolysis affecting the talus Osteolysis affecting the talus NOT_TRANSLATED -en nl HP:0008096 rdfs:label Medially deviated second toe Mediaal gedevieerde tweede teen CANDIDATE -en nl HP:0008096 IAO:0000115 Medial deviation of the second toe Medial deviation of the second toe NOT_TRANSLATED -en nl HP:0008097 rdfs:label Partial fusion of tarsals Partiële fusie van tarsalen CANDIDATE -en nl HP:0008102 rdfs:label Expanded metatarsals with widened medullary cavities Uitgebreide metatarsalen met verwijde medullaire holten CANDIDATE -en nl HP:0008103 rdfs:label Delayed tarsal ossification Vertraagde tarsale ossificatie CANDIDATE -en nl HP:0008103 IAO:0000115 Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED -en nl HP:0008107 rdfs:label Plantar crease between first and second toes Plantar crease between first and second toes NOT_TRANSLATED -en nl HP:0008107 IAO:0000115 The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe NOT_TRANSLATED -en nl HP:0008108 rdfs:label Advanced tarsal ossification Vergevorderde tarsale ossificatie CANDIDATE -en nl HP:0008108 IAO:0000115 Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED -en nl HP:0008110 rdfs:label Equinovarus deformity Equinovarus deformiteit CANDIDATE -en nl HP:0008111 rdfs:label Broad distal hallux Brede distale hallux CANDIDATE -en nl HP:0008112 rdfs:label Plantar flexion contractures Plantaire flexiecontracturen CANDIDATE -en nl HP:0008113 rdfs:label Multiple plantar creases Multipele voetlijnen CANDIDATE -en nl HP:0008114 rdfs:label Metatarsal diaphyseal endosteal sclerosis Endostale sclerose van diafyse van metatarsaal CANDIDATE -en nl HP:0008114 IAO:0000115 Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones NOT_TRANSLATED -en nl HP:0008115 rdfs:label Clinodactyly of the 3rd toe Clinodactylie van de 3e teen CANDIDATE -en nl HP:0008115 IAO:0000115 Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe) Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED -en nl HP:0008116 rdfs:label Flexion limitation of toes Flexie beperking van tenen CANDIDATE -en nl HP:0008116 IAO:0000115 Limitation of the ability to bend the toes Limitation of the ability to bend the toes NOT_TRANSLATED -en nl HP:0008117 rdfs:label Shortening of the talar neck Verkorting van de nek van de talus CANDIDATE -en nl HP:0008119 rdfs:label Deformed tarsal bones Misvormde tarsale botten CANDIDATE -en nl HP:0008122 rdfs:label Calcaneonavicular fusion Calcaneonaviculaire fusie CANDIDATE -en nl HP:0008122 IAO:0000115 Synostosis of the calcaneus with the navicular bone Synostosis of the calcaneus with the navicular bone NOT_TRANSLATED -en nl HP:0008124 rdfs:label Talipes calcaneovarus Talipes calcaneovarus CANDIDATE -en nl HP:0008124 IAO:0000115 A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus NOT_TRANSLATED -en nl HP:0008125 rdfs:label Second metatarsal posteriorly placed Second metatarsal posteriorly placed NOT_TRANSLATED -en nl HP:0008127 rdfs:label Bipartite calcaneus Calcaneus bipartita CANDIDATE -en nl HP:0008127 IAO:0000115 A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification NOT_TRANSLATED -en nl HP:0008131 rdfs:label Tarsal stippling Tarsale vlekkerige calcificatie CANDIDATE -en nl HP:0008131 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones NOT_TRANSLATED -en nl HP:0008132 rdfs:label Medial rotation of the medial malleolus Mediale rotatie van de mediale malleolus CANDIDATE -en nl HP:0008133 rdfs:label Distal tapering of metatarsals Distal tapering of metatarsals NOT_TRANSLATED -en nl HP:0008134 rdfs:label Irregular tarsal ossification Irregulaire tarsale ossificatie CANDIDATE -en nl HP:0008134 IAO:0000115 Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED -en nl HP:0008138 rdfs:label Equinus calcaneus Equinus calcaneus CANDIDATE -en nl HP:0008138 IAO:0000115 Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees NOT_TRANSLATED -en nl HP:0008141 rdfs:label Dislocation of toes Dislocatie van tenen CANDIDATE -en nl HP:0008142 rdfs:label Delayed calcaneal ossification Vertraagde calcaneale ossificatie CANDIDATE -en nl HP:0008142 IAO:0000115 Delayed maturation and calcification of the calcaneus Delayed maturation and calcification of the calcaneus NOT_TRANSLATED -en nl HP:0008144 rdfs:label Flattening of the talar dome Flattening of the talar dome NOT_TRANSLATED -en nl HP:0008148 rdfs:label Impaired epinephrine-induced platelet aggregation Verminderde epinefrine-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0008148 IAO:0000115 Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine NOT_TRANSLATED -en nl HP:0008150 rdfs:label Elevated serum transaminases during infections Verhoogde serum transaminases tijdens infecties CANDIDATE -en nl HP:0008150 IAO:0000115 Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections NOT_TRANSLATED -en nl HP:0008151 rdfs:label Prolonged prothrombin time Verlengde protrombine tijd CANDIDATE -en nl HP:0008151 IAO:0000115 Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT NOT_TRANSLATED -en nl HP:0008153 rdfs:label Periodic hypokalemic paresis Periodieke hypokalemische paralyse CANDIDATE -en nl HP:0008153 IAO:0000115 Episodes of muscle weakness associated with reduced levels of potassium in the blood Episodes of muscle weakness associated with reduced levels of potassium in the blood NOT_TRANSLATED -en nl HP:0008155 rdfs:label Mucopolysacchariduria Mucopolysaccharidurie CANDIDATE -en nl HP:0008155 IAO:0000115 Excessive amounts of mucopolysaccharide in the urine Excessive amounts of mucopolysaccharide in the urine NOT_TRANSLATED -en nl HP:0008158 rdfs:label Hyperapobetalipoproteinemia Hyper-apo-beta-lipoproteïnemie CANDIDATE -en nl HP:0008158 IAO:0000115 Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein NOT_TRANSLATED -en nl HP:0008160 rdfs:label 3-hydroxydicarboxylic aciduria 3-hydroxy-dicarboxylische acidurie CANDIDATE -en nl HP:0008160 IAO:0000115 An increase in the level of 3-hydroxydicarboxylic acid in the urine An increase in the level of 3-hydroxydicarboxylic acid in the urine NOT_TRANSLATED -en nl HP:0008161 rdfs:label Absent leukocyte alkaline phosphatase Afwezig alkalisch fosfatase van de leukocyten CANDIDATE -en nl HP:0008161 IAO:0000115 Alkaline phosphatase levels measured within leukocytes is below detectable levels Alkaline phosphatase levels measured within leukocytes is below detectable levels NOT_TRANSLATED -en nl HP:0008162 rdfs:label Asymptomatic hyperammonemia Asymptomatische hyperammoniëmie CANDIDATE -en nl HP:0008162 IAO:0000115 An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy NOT_TRANSLATED -en nl HP:0008163 rdfs:label Decreased circulating cortisol level Afgenomen circulerend cortisol niveau CANDIDATE -en nl HP:0008163 IAO:0000115 Abnormally reduced concentration of cortisol in the blood Abnormally reduced concentration of cortisol in the blood NOT_TRANSLATED -en nl HP:0008165 rdfs:label Decreased helper T cell proportion Afgenomen proportie van circulerende T-helpercellen CANDIDATE -en nl HP:0008165 IAO:0000115 Reduced proportion of helper T cells relative to the total number of T cells Reduced proportion of helper T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0008166 rdfs:label Decreased beta-galactosidase activity Verminderde beta-galactosidase activiteit CANDIDATE -en nl HP:0008166 IAO:0000115 Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma NOT_TRANSLATED -en nl HP:0008167 rdfs:label Very long chain fatty acid accumulation Zeer lange keten vetzuur accumulatie CANDIDATE -en nl HP:0008169 rdfs:label Reduced factor VII activity Verminderde activiteit van factor VII CANDIDATE -en nl HP:0008169 IAO:0000115 Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X NOT_TRANSLATED -en nl HP:0008176 rdfs:label Neonatal unconjugated hyperbilirubinemia Neonatale ongeconjugeerde hyperbilirubinemie CANDIDATE -en nl HP:0008178 rdfs:label Abnormal cartilage matrix Afwijkende kraakbeen matrix CANDIDATE -en nl HP:0008179 rdfs:label Decreased Arden ratio of electrooculogram Afwijkende Arden ratio van electro-oculogram CANDIDATE -en nl HP:0008179 IAO:0000115 An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record NOT_TRANSLATED -en nl HP:0008180 rdfs:label Mildly elevated creatine kinase Licht verhoogd serum creatinefosfokinase CANDIDATE -en nl HP:0008181 rdfs:label Abetalipoproteinemia Abetalipoproteïnemie CANDIDATE -en nl HP:0008181 IAO:0000115 An absence of low-density lipoprotein cholesterol in the blood An absence of low-density lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0008182 rdfs:label Adrenocortical hypoplasia Bijnierschors hypoplasie CANDIDATE -en nl HP:0008185 rdfs:label Precocious puberty in males Pubertas praecox bij mannen CANDIDATE -en nl HP:0008185 IAO:0000115 The onset of puberty before the age of 9 years in boys The onset of puberty before the age of 9 years in boys NOT_TRANSLATED -en nl HP:0008186 rdfs:label Adrenocortical cytomegaly Cytomegalie van de bijnierschors CANDIDATE -en nl HP:0008186 IAO:0000115 The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex NOT_TRANSLATED -en nl HP:0008187 rdfs:label Absence of secondary sex characteristics Afwezigheid van secundaire geslachtskenmerken CANDIDATE -en nl HP:0008187 IAO:0000115 No secondary sexual characteristics are present at puberty No secondary sexual characteristics are present at puberty NOT_TRANSLATED -en nl HP:0008188 rdfs:label Thyroid dysgenesis Schildklier dysgenesie CANDIDATE -en nl HP:0008189 rdfs:label Insulin insensitivity Insuline ongevoeligheid CANDIDATE -en nl HP:0008189 IAO:0000115 Decreased sensitivity toward insulin Decreased sensitivity toward insulin NOT_TRANSLATED -en nl HP:0008191 rdfs:label Thyroid agenesis Schildklier agenesie CANDIDATE -en nl HP:0008191 IAO:0000115 The congenital absence of the thyroid gland The congenital absence of the thyroid gland NOT_TRANSLATED -en nl HP:0008193 rdfs:label Primary gonadal insufficiency Primaire gonadale insufficiëntie CANDIDATE -en nl HP:0008194 rdfs:label Multiple pancreatic beta-cell adenomas Multipele pancreatische beta-cell adenomen CANDIDATE -en nl HP:0008194 IAO:0000115 The presence of multiple pancreatic islet cell adenomas The presence of multiple pancreatic islet cell adenomas NOT_TRANSLATED -en nl HP:0008197 rdfs:label Absence of pubertal development Afwezigheid van puberale ontwikkeling CANDIDATE -en nl HP:0008198 rdfs:label Congenital hypoparathyroidism Congenitaal hypoparathyroïdisme CANDIDATE -en nl HP:0008198 IAO:0000115 Deficiency of parathyroid hormone with congenital onset Deficiency of parathyroid hormone with congenital onset NOT_TRANSLATED -en nl HP:0008200 rdfs:label Primary hyperparathyroidism Primaire hyperparathyreoïdie CANDIDATE -en nl HP:0008200 IAO:0000115 A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia NOT_TRANSLATED -en nl HP:0008202 rdfs:label Reduced circulating prolactin concentration Prolactine-deficiëntie CANDIDATE -en nl HP:0008202 IAO:0000115 A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production NOT_TRANSLATED -en nl HP:0008204 rdfs:label Precocious puberty with Sertoli cell tumor Pubertas praecox met Sertoli-cel tumor CANDIDATE -en nl HP:0008205 rdfs:label Insulin-dependent but ketosis-resistant diabetes Insuline-afhankelijke maar ketose-resistente diabetes CANDIDATE -en nl HP:0008205 IAO:0000115 Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin NOT_TRANSLATED -en nl HP:0008207 rdfs:label Primary adrenal insufficiency Primaire bijnier insufficiëntie CANDIDATE -en nl HP:0008207 IAO:0000115 Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves NOT_TRANSLATED -en nl HP:0008208 rdfs:label Parathyroid hyperplasia Bijschildklier hyperplasie CANDIDATE -en nl HP:0008208 IAO:0000115 Hyperplasia of the parathyroid gland Hyperplasia of the parathyroid gland NOT_TRANSLATED -en nl HP:0008209 rdfs:label Premature ovarian insufficiency Premature ovariële insufficiëntie CANDIDATE -en nl HP:0008209 IAO:0000115 Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea NOT_TRANSLATED -en nl HP:0008211 rdfs:label Parathyroid agenesis Bijschildklier agenesie CANDIDATE -en nl HP:0008211 IAO:0000115 Aplasia of the parathyroid gland Aplasia of the parathyroid gland NOT_TRANSLATED -en nl HP:0008213 rdfs:label Gonadotropin deficiency Gonadotrofine deficiëntie CANDIDATE -en nl HP:0008213 IAO:0000115 A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH) A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH) NOT_TRANSLATED -en nl HP:0008214 rdfs:label Decreased serum estradiol Verminderd serum estradiol CANDIDATE -en nl HP:0008214 IAO:0000115 A reduction below normal concentration of estradiol in the circulation A reduction below normal concentration of estradiol in the circulation NOT_TRANSLATED -en nl HP:0008216 rdfs:label Adrenal gland dysgenesis Bijnier dysgenesie CANDIDATE -en nl HP:0008216 IAO:0000115 Abnormal development of the adrenal gland Abnormal development of the adrenal gland NOT_TRANSLATED -en nl HP:0008221 rdfs:label Adrenal hyperplasia Bijnier hyperplasie CANDIDATE -en nl HP:0008221 IAO:0000115 Enlargement of the adrenal gland Enlargement of the adrenal gland NOT_TRANSLATED -en nl HP:0008222 rdfs:label Female infertility Vrouwelijke infertiliteit CANDIDATE -en nl HP:0008223 rdfs:label Compensated hypothyroidism Gecompenseerde hypothyreoïdie CANDIDATE -en nl HP:0008223 IAO:0000115 Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4) Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4) NOT_TRANSLATED -en nl HP:0008225 rdfs:label Thyroid follicular hyperplasia Folliculaire schildklier hyperplasie CANDIDATE -en nl HP:0008226 rdfs:label Androgen insufficiency Androgeen insufficiëntie CANDIDATE -en nl HP:0008226 IAO:0000115 Insufficient amount of androgenic activity Insufficient amount of androgenic activity NOT_TRANSLATED -en nl HP:0008227 rdfs:label Pituitary resistance to thyroid hormone Hypofyse weerstand tegen schildklierhormoon CANDIDATE -en nl HP:0008227 IAO:0000115 A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal NOT_TRANSLATED -en nl HP:0008229 rdfs:label Thyroid lymphangiectasia Schildklier lymfangiëctasieën CANDIDATE -en nl HP:0008229 IAO:0000115 The presence of lymphangiectasis of the thyroid gland The presence of lymphangiectasis of the thyroid gland NOT_TRANSLATED -en nl HP:0008231 rdfs:label Macronodular adrenal hyperplasia Macronodulaire bijnier hyperplasie CANDIDATE -en nl HP:0008232 rdfs:label Elevated circulating follicle stimulating hormone level Verhoogd circulerend follikelstimulerend hormoon niveau CANDIDATE -en nl HP:0008232 IAO:0000115 An elevated concentration of follicle-stimulating hormone in the blood An elevated concentration of follicle-stimulating hormone in the blood NOT_TRANSLATED -en nl HP:0008233 rdfs:label Decreased circulating progesterone Verminderd circulerend progesteron CANDIDATE -en nl HP:0008233 IAO:0000115 An reduced concentration of progesterone in the blood An reduced concentration of progesterone in the blood NOT_TRANSLATED -en nl HP:0008236 rdfs:label Isosexual precocious puberty Isoseksuele pubertas praecox CANDIDATE -en nl HP:0008237 rdfs:label Hypothalamic hypothyroidism Hypothalame hypothyreoïdie CANDIDATE -en nl HP:0008237 IAO:0000115 A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity NOT_TRANSLATED -en nl HP:0008239 rdfs:label Adrenal medullary hypoplasia Bijniermerg hypoplasie CANDIDATE -en nl HP:0008239 IAO:0000115 Developmental hypoplasia of the adrenal medulla Developmental hypoplasia of the adrenal medulla NOT_TRANSLATED -en nl HP:0008240 rdfs:label Secondary growth hormone deficiency Secundaire groeihormoon deficiëntie CANDIDATE -en nl HP:0008242 rdfs:label Pseudohypoaldosteronism Pseudohypoaldosteronisme CANDIDATE -en nl HP:0008242 IAO:0000115 A state of renal tubular unresponsiveness or resistance to the action of aldosterone A state of renal tubular unresponsiveness or resistance to the action of aldosterone NOT_TRANSLATED -en nl HP:0008244 rdfs:label Congenital adrenal hypoplasia Congenitale bijnier hypoplasie CANDIDATE -en nl HP:0008244 IAO:0000115 A type of adrenal hypoplasia with congenital onset A type of adrenal hypoplasia with congenital onset NOT_TRANSLATED -en nl HP:0008245 rdfs:label Pituitary hypothyroidism Hypofysaire hypothyreoïdie CANDIDATE -en nl HP:0008245 IAO:0000115 A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion NOT_TRANSLATED -en nl HP:0008247 rdfs:label Euthyroid hyperthyroxinemia Euthyroïde hyperthyroxinemie CANDIDATE -en nl HP:0008247 IAO:0000115 Increased levels of thyroxine without evidence of clinical thyroid disease Increased levels of thyroxine without evidence of clinical thyroid disease NOT_TRANSLATED -en nl HP:0008249 rdfs:label Thyroid hyperplasia Schildklier hyperplasie CANDIDATE -en nl HP:0008249 IAO:0000115 Hyperplasia of the thyroid gland Hyperplasia of the thyroid gland NOT_TRANSLATED -en nl HP:0008250 rdfs:label Infantile hypercalcemia Infantiele hypercalciëmie CANDIDATE -en nl HP:0008251 rdfs:label Congenital goiter Congenitaal struma CANDIDATE -en nl HP:0008251 IAO:0000115 An enlargement of the thyroid gland with congenital onset An enlargement of the thyroid gland with congenital onset NOT_TRANSLATED -en nl HP:0008255 rdfs:label Transient neonatal diabetes mellitus Voorbijgaande neonatale diabetes mellitus CANDIDATE -en nl HP:0008256 rdfs:label Adrenocortical adenoma Adrenocorticaal adenoom CANDIDATE -en nl HP:0008256 IAO:0000115 Adrenocortical adenomas are benign tumors of the adrenal cortex Adrenocortical adenomas are benign tumors of the adrenal cortex NOT_TRANSLATED -en nl HP:0008258 rdfs:label Congenital adrenal hyperplasia Congenitale bijnier hyperplasie CANDIDATE -en nl HP:0008258 IAO:0000115 A type of adrenal hyperplasia with congenital onset A type of adrenal hyperplasia with congenital onset NOT_TRANSLATED -en nl HP:0008259 rdfs:label Adrenocorticotropin receptor defect Adrenocorticotropine receptor defect CANDIDATE -en nl HP:0008259 IAO:0000115 Adrenal insufficiency secondary to a defect in the ACTH receptor Adrenal insufficiency secondary to a defect in the ACTH receptor NOT_TRANSLATED -en nl HP:0008261 rdfs:label Pancreatic islet cell adenoma Eilandjes van Langerhans adenoom CANDIDATE -en nl HP:0008261 IAO:0000115 The presence of an adenoma of the pancreas with origin in a pancreatic B cell The presence of an adenoma of the pancreas with origin in a pancreatic B cell NOT_TRANSLATED -en nl HP:0008263 rdfs:label Thyroid defect in oxidation and organification of iodide Schildklier defect in oxidatie en organificatie van jood CANDIDATE -en nl HP:0008264 rdfs:label Neutrophil inclusion bodies Neutrofiele inclusielichaampjes CANDIDATE -en nl HP:0008264 IAO:0000115 The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies NOT_TRANSLATED -en nl HP:0008265 rdfs:label Mitochondrial lysine transport defect Mitochondriaal lysine transport defect CANDIDATE -en nl HP:0008269 rdfs:label Increased red cell hemolysis by shear stress Verhoogde erytrocyt hemolyse door schuifspanning CANDIDATE -en nl HP:0008271 rdfs:label Abnormal cartilage collagen Afwijkend kraakbeen collageen CANDIDATE -en nl HP:0008271 IAO:0000115 Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix NOT_TRANSLATED -en nl HP:0008272 rdfs:label Renal tubular lysine transport defect Renaal tubulair lysine transport defect CANDIDATE -en nl HP:0008273 rdfs:label Transient aminoaciduria Voorbijgaande aminoacidurie CANDIDATE -en nl HP:0041042 rdfs:label Absent neutrophil lactoferrin Absent neutrophil lactoferrin NOT_TRANSLATED -en nl HP:0041042 IAO:0000115 The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production NOT_TRANSLATED -en nl HP:0008275 rdfs:label Abnormal light-adapted electroretinogram Afwijkend licht-aangepast elektroretinogram CANDIDATE -en nl HP:0041043 rdfs:label Neutrophil nuclear clefts Neutrophil nuclear clefts NOT_TRANSLATED -en nl HP:0041043 IAO:0000115 An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation NOT_TRANSLATED -en nl HP:0041044 rdfs:label Low neutrophil alkaline phosphatase Low neutrophil alkaline phosphatase NOT_TRANSLATED -en nl HP:0041044 IAO:0000115 An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme NOT_TRANSLATED -en nl HP:0008277 rdfs:label Abnormal blood zinc concentration Afwijking van zink homeostase CANDIDATE -en nl HP:0008277 IAO:0000115 An abnormality of zinc ion homeostasis An abnormality of zinc ion homeostasis NOT_TRANSLATED -en nl HP:0041045 rdfs:label Increased neutrophil mitochondria Increased neutrophil mitochondria NOT_TRANSLATED -en nl HP:0041045 IAO:0000115 An increased number of mitochondria detected in neutrophils An increased number of mitochondria detected in neutrophils NOT_TRANSLATED -en nl HP:0008278 rdfs:label Cerebellar cortical atrophy Cerebellaire corticale atrofie CANDIDATE -en nl HP:0008278 IAO:0000115 Atrophy (wasting) of the cerebellar cortex Atrophy (wasting) of the cerebellar cortex NOT_TRANSLATED -en nl HP:0041046 rdfs:label Increased neutrophil ribosomes Increased neutrophil ribosomes NOT_TRANSLATED -en nl HP:0041046 IAO:0000115 An increased number of ribosomes detected in neutrophils An increased number of ribosomes detected in neutrophils NOT_TRANSLATED -en nl HP:0008279 rdfs:label Transient hyperlipidemia Voorbijgaande hyperlipidemie CANDIDATE -en nl HP:0041047 rdfs:label Bladder outlet obstruction Bladder outlet obstruction NOT_TRANSLATED -en nl HP:0041047 IAO:0000115 A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS) A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS) NOT_TRANSLATED -en nl HP:0041048 rdfs:label Decreased expression of GPI-anchored proteins on the cell surface Decreased expression of GPI-anchored proteins on the cell surface NOT_TRANSLATED -en nl HP:0041048 IAO:0000115 A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis NOT_TRANSLATED -en nl HP:0008281 rdfs:label Acute hyperammonemia Acute hyperammoniëmie CANDIDATE -en nl HP:0008281 IAO:0000115 An increased concentration of ammonia in the blood with sudden onset An increased concentration of ammonia in the blood with sudden onset NOT_TRANSLATED -en nl HP:0041049 rdfs:label Starch intolerance Starch intolerance NOT_TRANSLATED -en nl HP:0041049 IAO:0000115 An inability to digest starch An inability to digest starch NOT_TRANSLATED -en nl HP:0008282 rdfs:label Unconjugated hyperbilirubinemia Ongeconjugeerde hyperbilirubinemie CANDIDATE -en nl HP:0008282 IAO:0000115 An increased amount of unconjugated (indirect) bilurubin in the blood An increased amount of unconjugated (indirect) bilurubin in the blood NOT_TRANSLATED -en nl HP:0041050 rdfs:label Renal tubular cyst Renal tubular cyst NOT_TRANSLATED -en nl HP:0041050 IAO:0000115 Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells NOT_TRANSLATED -en nl HP:0008283 rdfs:label Fasting hyperinsulinemia Hyperinsulinemie bij vasten CANDIDATE -en nl HP:0008283 IAO:0000115 An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake NOT_TRANSLATED -en nl HP:0041051 rdfs:label Ageusia Ageusia NOT_TRANSLATED -en nl HP:0041051 IAO:0000115 A rare condition that is characterized by a complete loss of taste function of the tongue A rare condition that is characterized by a complete loss of taste function of the tongue NOT_TRANSLATED -en nl HP:0041052 rdfs:label Agenesis of putamen Agenesis of putamen NOT_TRANSLATED -en nl HP:0041052 IAO:0000115 A developmental defect characterized by the absence of the putamen owing to its failure to develop A developmental defect characterized by the absence of the putamen owing to its failure to develop NOT_TRANSLATED -en nl HP:0008285 rdfs:label Transient hypophosphatemia Voorbijgaande hypofosfatemie CANDIDATE -en nl HP:0041055 rdfs:label Fractured humerus Fractured humerus NOT_TRANSLATED -en nl HP:0041055 IAO:0000115 A partial or complete breakage of the humerus A partial or complete breakage of the humerus NOT_TRANSLATED -en nl HP:0008288 rdfs:label Nonketotic hyperglycinemia Nonketotische hyperglycinemie CANDIDATE -en nl HP:0041056 rdfs:label Hot cross bun sign Hot cross bun sign NOT_TRANSLATED -en nl HP:0041056 IAO:0000115 A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI) A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI) NOT_TRANSLATED -en nl HP:0041057 rdfs:label Transient decreased circulating IgG4 Transient decreased circulating IgG4 NOT_TRANSLATED -en nl HP:0041057 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation NOT_TRANSLATED -en nl HP:0008290 rdfs:label Partial complement factor H deficiency Partiële complement factor H deficiëntie CANDIDATE -en nl HP:0008290 IAO:0000115 A partial reduction in level of the complement component Factor H in circulation A partial reduction in level of the complement component Factor H in circulation NOT_TRANSLATED -en nl HP:0041058 rdfs:label Chronic decreased circulating IgG4 Chronic decreased circulating IgG4 NOT_TRANSLATED -en nl HP:0041058 IAO:0000115 A lasting decrease of immunoglobulin G4 (IgG4) in the blood A lasting decrease of immunoglobulin G4 (IgG4) in the blood NOT_TRANSLATED -en nl HP:0008291 rdfs:label Pituitary corticotropic cell adenoma Hypofyse corticotropische cel adenoom CANDIDATE -en nl HP:0008291 IAO:0000115 A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH) A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH) NOT_TRANSLATED -en nl HP:0041059 rdfs:label Chronic (near) absent circulating IgG4 Chronic (near) absent circulating IgG4 NOT_TRANSLATED -en nl HP:0041059 IAO:0000115 A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured NOT_TRANSLATED -en nl HP:0041060 rdfs:label Chronic partially decreased circulating IgG4 Chronic partially decreased circulating IgG4 NOT_TRANSLATED -en nl HP:0041060 IAO:0000115 A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood NOT_TRANSLATED -en nl HP:0008293 rdfs:label Long-chain dicarboxylic aciduria Lange-keten dicarboxylische acidurie CANDIDATE -en nl HP:0008293 IAO:0000115 An increase in the level of long-chain dicarboxylic acid in the urine An increase in the level of long-chain dicarboxylic acid in the urine NOT_TRANSLATED -en nl HP:0041061 rdfs:label Fractured calcaneus Fractured calcaneus NOT_TRANSLATED -en nl HP:0041061 IAO:0000115 A partial or complete breakage of the calcaneus A partial or complete breakage of the calcaneus NOT_TRANSLATED -en nl HP:0041062 rdfs:label Transient decreased circulating IgG2 Transient decreased circulating IgG2 NOT_TRANSLATED -en nl HP:0041062 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation NOT_TRANSLATED -en nl HP:0041063 rdfs:label Chronic decreased cirulating IgG2 Chronic decreased cirulating IgG2 NOT_TRANSLATED -en nl HP:0041063 IAO:0000115 A lasting decrease of immunoglobulin G2 (IgG2) in the blood A lasting decrease of immunoglobulin G2 (IgG2) in the blood NOT_TRANSLATED -en nl HP:0041064 rdfs:label Fractured knee Fractured knee NOT_TRANSLATED -en nl HP:0041064 IAO:0000115 A partial or complete breakage of the knee A partial or complete breakage of the knee NOT_TRANSLATED -en nl HP:0008297 rdfs:label Transient hyperphenylalaninemia Voorbijgaande hyperfenylalaninemie CANDIDATE -en nl HP:0008297 IAO:0000115 A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine) A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine) NOT_TRANSLATED -en nl HP:0041065 rdfs:label Chronic (near) absent circulating IgG2 Chronic (near) absent circulating IgG2 NOT_TRANSLATED -en nl HP:0041065 IAO:0000115 A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured NOT_TRANSLATED -en nl HP:0041066 rdfs:label Chronic partially decreased circulating IgG2 Chronic partially decreased circulating IgG2 NOT_TRANSLATED -en nl HP:0041066 IAO:0000115 A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood NOT_TRANSLATED -en nl HP:0041067 rdfs:label Transient decreased circulating IgG1 Transient decreased circulating IgG1 NOT_TRANSLATED -en nl HP:0041067 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation NOT_TRANSLATED -en nl HP:0041068 rdfs:label Chronic decreased circulating IgG1 Chronic decreased circulating IgG1 NOT_TRANSLATED -en nl HP:0041068 IAO:0000115 A lasting decrease of immunoglobulin G1 (IgG1) in the blood A lasting decrease of immunoglobulin G1 (IgG1) in the blood NOT_TRANSLATED -en nl HP:0008301 rdfs:label Dermatan sulfate excretion in urine Dermataansulfaat excretie in urine CANDIDATE -en nl HP:0008301 IAO:0000115 An increased concentration of dermatan sulfate in the urine An increased concentration of dermatan sulfate in the urine NOT_TRANSLATED -en nl HP:0041069 rdfs:label Chronic (near) absent circulating IgG1 Chronic (near) absent circulating IgG1 NOT_TRANSLATED -en nl HP:0041069 IAO:0000115 A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured NOT_TRANSLATED -en nl HP:0041070 rdfs:label Chronic partially decreased circulating IgG1 Chronic partially decreased circulating IgG1 NOT_TRANSLATED -en nl HP:0041070 IAO:0000115 A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood NOT_TRANSLATED -en nl HP:0008303 rdfs:label Olivary degeneration Olivaire degeneratie CANDIDATE -en nl HP:0008303 IAO:0000115 Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata NOT_TRANSLATED -en nl HP:0041071 rdfs:label Transient decreased circulating IgG3 Transient decreased circulating IgG3 NOT_TRANSLATED -en nl HP:0041071 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation NOT_TRANSLATED -en nl HP:0041072 rdfs:label Chronic decreased circulating IgG3 Chronic decreased circulating IgG3 NOT_TRANSLATED -en nl HP:0041072 IAO:0000115 A lasting decrease of immunoglobulin G3 (IgG3) in the blood A lasting decrease of immunoglobulin G3 (IgG3) in the blood NOT_TRANSLATED -en nl HP:0008305 rdfs:label Exercise-induced myoglobinuria Inspanning-geïnduceerde myoglobinurie CANDIDATE -en nl HP:0008305 IAO:0000115 Presence of myoglobin in the urine following exercise Presence of myoglobin in the urine following exercise NOT_TRANSLATED -en nl HP:0041073 rdfs:label Fractured thoracic vertebra Fractured thoracic vertebra NOT_TRANSLATED -en nl HP:0041073 IAO:0000115 A partial or complete breakage of the thoracic vertebra A partial or complete breakage of the thoracic vertebra NOT_TRANSLATED -en nl HP:0008306 rdfs:label Abnormal iron deposition in mitochondria Afwijkende ijzer depositie in mitochondriën CANDIDATE -en nl HP:0041074 rdfs:label Chronic (near) absent circulating IgG3 Chronic (near) absent circulating IgG3 NOT_TRANSLATED -en nl HP:0041074 IAO:0000115 A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured NOT_TRANSLATED -en nl HP:0041075 rdfs:label Chronic partially decreased circulating IgG3 Chronic partially decreased circulating IgG3 NOT_TRANSLATED -en nl HP:0041075 IAO:0000115 A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood NOT_TRANSLATED -en nl HP:0041076 rdfs:label Abnormal immunoglobulin level in body fluid Abnormal immunoglobulin level in body fluid NOT_TRANSLATED -en nl HP:0041076 IAO:0000115 An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous NOT_TRANSLATED -en nl HP:0008309 rdfs:label Medium chain dicarboxylic aciduria Medium-keten dicarboxylische acidurie CANDIDATE -en nl HP:0008309 IAO:0000115 An increase in the level of medium chain dicarboxylic acid in the urine An increase in the level of medium chain dicarboxylic acid in the urine NOT_TRANSLATED -en nl HP:0041077 rdfs:label Increased immunoglobulin level in body fluid Increased immunoglobulin level in body fluid NOT_TRANSLATED -en nl HP:0041077 IAO:0000115 An elevation from normal levels of immunoglobulins in body fluids, such as mucous An elevation from normal levels of immunoglobulins in body fluids, such as mucous NOT_TRANSLATED -en nl HP:0041078 rdfs:label Decreased immunoglobulin level in body fluid Decreased immunoglobulin level in body fluid NOT_TRANSLATED -en nl HP:0041078 IAO:0000115 An reduction from normal levels of immunoglobulins in body fluids, such as mucous An reduction from normal levels of immunoglobulins in body fluids, such as mucous NOT_TRANSLATED -en nl HP:0008311 rdfs:label Spinal cord posterior columns myelin loss Ruggenmerg posterieure kolommen myeline verlies CANDIDATE -en nl HP:0041079 rdfs:label Decreased body fat percentage Decreased body fat percentage NOT_TRANSLATED -en nl HP:0041079 IAO:0000115 The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males NOT_TRANSLATED -en nl HP:0041080 rdfs:label Abnormal proportion of exhausted T cells Abnormal proportion of exhausted T cells NOT_TRANSLATED -en nl HP:0041080 IAO:0000115 A deviation from the normal proportion of exhausted T cell relative to T cell in the blood A deviation from the normal proportion of exhausted T cell relative to T cell in the blood NOT_TRANSLATED -en nl HP:0041081 rdfs:label Fractured lower leg Fractured lower leg NOT_TRANSLATED -en nl HP:0041081 IAO:0000115 Bone fracture anywhere in the tibia, fibula, or ankle Bone fracture anywhere in the tibia, fibula, or ankle NOT_TRANSLATED -en nl HP:0008314 rdfs:label Decreased activity of mitochondrial complex II Afgenomen activiteit van mitochondriale complex II CANDIDATE -en nl HP:0008314 IAO:0000115 A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria NOT_TRANSLATED -en nl HP:0041082 rdfs:label Fractured skull Fractured skull NOT_TRANSLATED -en nl HP:0041082 IAO:0000115 A partial or complete breakage of the skull A partial or complete breakage of the skull NOT_TRANSLATED -en nl HP:0008315 rdfs:label Decreased plasma free carnitine Verminderd plasma vrij carnitine CANDIDATE -en nl HP:0008315 IAO:0000115 A decreased concentration of free (unbound) carnitine in the blood A decreased concentration of free (unbound) carnitine in the blood NOT_TRANSLATED -en nl HP:0041083 rdfs:label Fractured phalanx Fractured phalanx NOT_TRANSLATED -en nl HP:0041083 IAO:0000115 A partial or complete breakage of the phalanx A partial or complete breakage of the phalanx NOT_TRANSLATED -en nl HP:0008316 rdfs:label Abnormal mitochondria in muscle tissue Afwijkende mitochondriën in spierweefsel CANDIDATE -en nl HP:0008316 IAO:0000115 An abnormality of the mitochondria in muscle tissue An abnormality of the mitochondria in muscle tissue NOT_TRANSLATED -en nl HP:0041084 rdfs:label Compression-fractured thoracic vertebra Compression-fractured thoracic vertebra NOT_TRANSLATED -en nl HP:0041084 IAO:0000115 A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED -en nl HP:0041085 rdfs:label Compression-fractured vertebra Compression-fractured vertebra NOT_TRANSLATED -en nl HP:0041085 IAO:0000115 A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED -en nl HP:0008318 rdfs:label Elevated leukocyte alkaline phosphatase Verhoogd alkalisch fosfatase van de leukocyten CANDIDATE -en nl HP:0008318 IAO:0000115 Increased alkaline phosphatase measured within leukocytes Increased alkaline phosphatase measured within leukocytes NOT_TRANSLATED -en nl HP:0041086 rdfs:label Compression-fractured cervical vertebra Compression-fractured cervical vertebra NOT_TRANSLATED -en nl HP:0041086 IAO:0000115 A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED -en nl HP:0041087 rdfs:label Compression-fractured lumbar vertebra Compression-fractured lumbar vertebra NOT_TRANSLATED -en nl HP:0041087 IAO:0000115 A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED -en nl HP:0008320 rdfs:label Impaired collagen-induced platelet aggregation Verminderde collageen-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0008320 IAO:0000115 Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics NOT_TRANSLATED -en nl HP:0041088 rdfs:label Avulsion fractured humerus Avulsion fractured humerus NOT_TRANSLATED -en nl HP:0041088 IAO:0000115 A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma NOT_TRANSLATED -en nl HP:0008321 rdfs:label Reduced factor X activity Verminderde activiteit van factor X CANDIDATE -en nl HP:0008321 IAO:0000115 Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa) Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa) NOT_TRANSLATED -en nl HP:0041089 rdfs:label Avulsion fractured tibia Avulsion fractured tibia NOT_TRANSLATED -en nl HP:0041089 IAO:0000115 A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma NOT_TRANSLATED -en nl HP:0008322 rdfs:label Abnormal mitochondrial morphology Afwijkende mitochondriale morfologie CANDIDATE -en nl HP:0008322 IAO:0000115 Any structural anomaly of the mitochondria Any structural anomaly of the mitochondria NOT_TRANSLATED -en nl HP:0008323 rdfs:label Abnormal light- and dark-adapted electroretinogram Afwijkend licht- en donker-aangepast elektroretinogram CANDIDATE -en nl HP:0008323 IAO:0000115 An abnormality of the combined rod-and-cone response on electroretinogram An abnormality of the combined rod-and-cone response on electroretinogram NOT_TRANSLATED -en nl HP:0041091 rdfs:label Avulsion fractured epiphysis of femur Avulsion fractured epiphysis of femur NOT_TRANSLATED -en nl HP:0041091 IAO:0000115 A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma NOT_TRANSLATED -en nl HP:0041092 rdfs:label Emotional hypersensitivity Emotional hypersensitivity NOT_TRANSLATED -en nl HP:0041092 IAO:0000115 Heightened emotional reactivity to environmental stimuli, including emotions of others Heightened emotional reactivity to environmental stimuli, including emotions of others NOT_TRANSLATED -en nl HP:0041093 rdfs:label Beau's lines Beau's lines NOT_TRANSLATED -en nl HP:0041093 IAO:0000115 A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease NOT_TRANSLATED -en nl HP:0008326 rdfs:label Reduced circulating vitamin B6 level Vitamine B6 deficiëntie CANDIDATE -en nl HP:0008326 IAO:0000115 An abnormally decreased concentration of vitamin B6 in the blood circulation An abnormally decreased concentration of vitamin B6 in the blood circulation NOT_TRANSLATED -en nl HP:0041094 rdfs:label Complete tracheal ring Complete tracheal ring NOT_TRANSLATED -en nl HP:0041094 IAO:0000115 Continuous or nearly continuous configuration of the cartilaginous tracheal ring Continuous or nearly continuous configuration of the cartilaginous tracheal ring NOT_TRANSLATED -en nl HP:0008327 rdfs:label Microscopic nephrocalcinosis Microscopische nefrocalcinose CANDIDATE -en nl HP:0008327 IAO:0000115 The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma NOT_TRANSLATED -en nl HP:0041095 rdfs:label Decreased middle cerebral artery pulsatility index Decreased middle cerebral artery pulsatility index NOT_TRANSLATED -en nl HP:0041095 IAO:0000115 Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity NOT_TRANSLATED -en nl HP:0008330 rdfs:label Reduced von Willebrand factor activity Verminderde von Willebrand factor activiteit CANDIDATE -en nl HP:0008330 IAO:0000115 Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces NOT_TRANSLATED -en nl HP:0008331 rdfs:label Elevated creatine kinase after exercise Verhoogd creatine kinase na het sporten CANDIDATE -en nl HP:0008336 rdfs:label Complex organic aciduria Complexe organische acidurie CANDIDATE -en nl HP:0008338 rdfs:label Partial functional complement factor D deficiency Partiële functioneel complement factor D deficiëntie CANDIDATE -en nl HP:0008338 IAO:0000115 A partial reduction in level of the complement component Factor D in circulation A partial reduction in level of the complement component Factor D in circulation NOT_TRANSLATED -en nl HP:0008339 rdfs:label Diaminoaciduria Diaminoacidurie CANDIDATE -en nl HP:0008339 IAO:0000115 An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine) An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine) NOT_TRANSLATED -en nl HP:0008341 rdfs:label Distal renal tubular acidosis Distale renale tubulaire acidose CANDIDATE -en nl HP:0008341 IAO:0000115 A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia NOT_TRANSLATED -en nl HP:0008344 rdfs:label Elevated plasma branched chain amino acids Verhoogde plasma vertakte keten aminozuren CANDIDATE -en nl HP:0008344 IAO:0000115 An increased concentration of a branched chain amino acid in the blood An increased concentration of a branched chain amino acid in the blood NOT_TRANSLATED -en nl HP:0008345 rdfs:label Hypoplasia of the iris dilator muscle Hypoplasie van de musculus dilatator pupillae CANDIDATE -en nl HP:0008345 IAO:0000115 Underdevelopment of the dilatator pupillae Underdevelopment of the dilatator pupillae NOT_TRANSLATED -en nl HP:0008346 rdfs:label Increased red cell sickling tendency Verhoogde erytrocyt sickling neiging CANDIDATE -en nl HP:0041114 rdfs:label Fractured metaphysis of femur Fractured metaphysis of femur NOT_TRANSLATED -en nl HP:0041114 IAO:0000115 A partial or complete breakage of the metaphysis of femur A partial or complete breakage of the metaphysis of femur NOT_TRANSLATED -en nl HP:0008347 rdfs:label Decreased activity of mitochondrial complex IV Afgenomen activiteit van mitochondriale complex IV CANDIDATE -en nl HP:0008347 IAO:0000115 A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria NOT_TRANSLATED -en nl HP:0041115 rdfs:label Fractured right clavicle Fractured right clavicle NOT_TRANSLATED -en nl HP:0041115 IAO:0000115 A partial or complete breakage of the right clavicle A partial or complete breakage of the right clavicle NOT_TRANSLATED -en nl HP:0008348 rdfs:label Decreased circulating IgG2 level Immunoglobuline IgG2 deficiëntie CANDIDATE -en nl HP:0008348 IAO:0000115 A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation NOT_TRANSLATED -en nl HP:0041116 rdfs:label Fractured left clavicle Fractured left clavicle NOT_TRANSLATED -en nl HP:0041116 IAO:0000115 A partial or complete breakage of the left clavicle A partial or complete breakage of the left clavicle NOT_TRANSLATED -en nl HP:0041117 rdfs:label Fractured lower limb segment Fractured lower limb segment NOT_TRANSLATED -en nl HP:0041117 IAO:0000115 A partial or complete breakage of the lower limb segment A partial or complete breakage of the lower limb segment NOT_TRANSLATED -en nl HP:0041118 rdfs:label Fractured upper limb segment Fractured upper limb segment NOT_TRANSLATED -en nl HP:0041118 IAO:0000115 A partial or complete breakage of the upper limb segment A partial or complete breakage of the upper limb segment NOT_TRANSLATED -en nl HP:0041119 rdfs:label Fractured metacarpus skeleton Fractured metacarpus skeleton NOT_TRANSLATED -en nl HP:0041119 IAO:0000115 A partial or complete breakage of the metacarpus skeleton A partial or complete breakage of the metacarpus skeleton NOT_TRANSLATED -en nl HP:0008352 rdfs:label Impaired platelet adhesion Verminderde bloedplaatjes hechting CANDIDATE -en nl HP:0008352 IAO:0000115 An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation NOT_TRANSLATED -en nl HP:0008353 rdfs:label Neutral hyperaminoaciduria Neutrale hyperaminoacidurie CANDIDATE -en nl HP:0008353 IAO:0000115 The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine NOT_TRANSLATED -en nl HP:0041121 rdfs:label Fractured epiphysis of fifth metacarpal bone Fractured epiphysis of fifth metacarpal bone NOT_TRANSLATED -en nl HP:0041121 IAO:0000115 A partial or complete breakage of the epiphysis of fifth metacarpal bone A partial or complete breakage of the epiphysis of fifth metacarpal bone NOT_TRANSLATED -en nl HP:0008354 rdfs:label Factor X activation deficiency Factor X activatie deficiëntie CANDIDATE -en nl HP:0008354 IAO:0000115 Reduced ability to transform factor X into its activated form factor Xa Reduced ability to transform factor X into its activated form factor Xa NOT_TRANSLATED -en nl HP:0008357 rdfs:label Reduced factor XIII activity Verminderde activiteit van factor XIII CANDIDATE -en nl HP:0008357 IAO:0000115 Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot NOT_TRANSLATED -en nl HP:0008358 rdfs:label Hyperprolinemia Hyperprolinemie CANDIDATE -en nl HP:0008358 IAO:0000115 An increased concentration of proline in the blood An increased concentration of proline in the blood NOT_TRANSLATED -en nl HP:0008360 rdfs:label Neonatal hypoproteinemia Neonatale hypoproteinemie CANDIDATE -en nl HP:0008360 IAO:0000115 A neonatal decreased concentration of proteins in the blood A neonatal decreased concentration of proteins in the blood NOT_TRANSLATED -en nl HP:0008361 rdfs:label Corticospinal tract pallor Corticospinale baan bleekheid CANDIDATE -en nl HP:0008362 rdfs:label Aplasia/Hypoplasia of the hallux Aplasia/Hypoplasie van de hallux CANDIDATE -en nl HP:0008362 IAO:0000115 Absence or underdevelopment of the big toe Absence or underdevelopment of the big toe NOT_TRANSLATED -en nl HP:0008363 rdfs:label Aplasia/Hypoplasia of the tarsal bones Aplasia/Hypoplasie van de tarsale botten CANDIDATE -en nl HP:0008363 IAO:0000115 Absence or underdevelopment of the tarsal bones Absence or underdevelopment of the tarsal bones NOT_TRANSLATED -en nl HP:0008364 rdfs:label Abnormality of the calcaneus Afwijking van de calcaneus CANDIDATE -en nl HP:0008364 IAO:0000115 An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel NOT_TRANSLATED -en nl HP:0008365 rdfs:label Abnormal talus morphology Afwijking van de talus CANDIDATE -en nl HP:0008365 IAO:0000115 An abnormality of the talus An abnormality of the talus NOT_TRANSLATED -en nl HP:0008366 rdfs:label Foot joint contracture Contracturen waarbij de gewrichten van de voeten betrokken zijn CANDIDATE -en nl HP:0008366 IAO:0000115 Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0008368 rdfs:label Tarsal synostosis Tarsale synostose CANDIDATE -en nl HP:0008368 IAO:0000115 Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones) Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones) NOT_TRANSLATED -en nl HP:0008369 rdfs:label Abnormal tarsal ossification Afwijkende tarsale ossificatie CANDIDATE -en nl HP:0008369 IAO:0000115 An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED -en nl HP:0008371 rdfs:label Abnormal metatarsal ossification Afwijkende metatarsale ossificatie CANDIDATE -en nl HP:0008371 IAO:0000115 Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years NOT_TRANSLATED -en nl HP:0008372 rdfs:label Abnormality of vitamin A metabolism Afwijking van vitamine A metabolisme CANDIDATE -en nl HP:0008373 rdfs:label Puberty and gonadal disorders Puberteit en gonadale stoornissen CANDIDATE -en nl HP:0041143 rdfs:label Fractured tibia Fractured tibia NOT_TRANSLATED -en nl HP:0041143 IAO:0000115 A partial or complete breakage of the tibia A partial or complete breakage of the tibia NOT_TRANSLATED -en nl HP:0008376 rdfs:label Nasal, dysarthic speech Nasale, dysartrische spraak CANDIDATE -en nl HP:0041144 rdfs:label Fractured clavicle bone Fractured clavicle bone NOT_TRANSLATED -en nl HP:0041144 IAO:0000115 A partial or complete breakage of the clavicle bone A partial or complete breakage of the clavicle bone NOT_TRANSLATED -en nl HP:0041145 rdfs:label Fractured acetabular part of hip bone Fractured acetabular part of hip bone NOT_TRANSLATED -en nl HP:0041145 IAO:0000115 A partial or complete breakage of the acetabular part of hip bone A partial or complete breakage of the acetabular part of hip bone NOT_TRANSLATED -en nl HP:0041146 rdfs:label Fractured coccyx Fractured coccyx NOT_TRANSLATED -en nl HP:0041146 IAO:0000115 A partial or complete breakage of the coccyx A partial or complete breakage of the coccyx NOT_TRANSLATED -en nl HP:0041147 rdfs:label Fractured epiphysis Fractured epiphysis NOT_TRANSLATED -en nl HP:0041147 IAO:0000115 A partial or complete breakage of the epiphysis A partial or complete breakage of the epiphysis NOT_TRANSLATED -en nl HP:0041149 rdfs:label Fractured navicular bone of pes Fractured navicular bone of pes NOT_TRANSLATED -en nl HP:0041149 IAO:0000115 A partial or complete breakage of the navicular bone of pes A partial or complete breakage of the navicular bone of pes NOT_TRANSLATED -en nl HP:0041150 rdfs:label Fractured cuboid bone Fractured cuboid bone NOT_TRANSLATED -en nl HP:0041150 IAO:0000115 A partial or complete breakage of the cuboid bone A partial or complete breakage of the cuboid bone NOT_TRANSLATED -en nl HP:0008383 rdfs:label Slow-growing nails Langzaam groeiende nagels CANDIDATE -en nl HP:0008383 IAO:0000115 Nails whose growth is slower than normal Nails whose growth is slower than normal NOT_TRANSLATED -en nl HP:0041152 rdfs:label Fractured sternoclavicular joint Fractured sternoclavicular joint NOT_TRANSLATED -en nl HP:0041152 IAO:0000115 A partial or complete breakage of the sternoclavicular joint A partial or complete breakage of the sternoclavicular joint NOT_TRANSLATED -en nl HP:0041153 rdfs:label Fractured ankle Fractured ankle NOT_TRANSLATED -en nl HP:0041153 IAO:0000115 A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot) A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot) NOT_TRANSLATED -en nl HP:0008386 rdfs:label Aplasia/Hypoplasia of the nails Aplasia/Hypoplasie van de nagels CANDIDATE -en nl HP:0008386 IAO:0000115 Aplasia or developmental hypoplasia of the nail Aplasia or developmental hypoplasia of the nail NOT_TRANSLATED -en nl HP:0041154 rdfs:label Fractured elbow joint Fractured elbow joint NOT_TRANSLATED -en nl HP:0041154 IAO:0000115 A partial or complete breakage of the elbow joint A partial or complete breakage of the elbow joint NOT_TRANSLATED -en nl HP:0041155 rdfs:label Fractured mandible Fractured mandible NOT_TRANSLATED -en nl HP:0041155 IAO:0000115 A partial or complete breakage of the mandible A partial or complete breakage of the mandible NOT_TRANSLATED -en nl HP:0008388 rdfs:label Abnormal toenail morphology Afwijkende teennagel morfologie CANDIDATE -en nl HP:0008388 IAO:0000115 An anomaly of the toenail An anomaly of the toenail NOT_TRANSLATED -en nl HP:0041156 rdfs:label Fractured orbit of skull Fractured orbit of skull NOT_TRANSLATED -en nl HP:0041156 IAO:0000115 A partial or complete breakage of the orbit of skull A partial or complete breakage of the orbit of skull NOT_TRANSLATED -en nl HP:0041157 rdfs:label Fractured larynx Fractured larynx NOT_TRANSLATED -en nl HP:0041157 IAO:0000115 A partial or complete breakage of the larynx A partial or complete breakage of the larynx NOT_TRANSLATED -en nl HP:0008390 rdfs:label Recurrent loss of toenails and fingernails Recidiverend verlies van teen- en vingernagels CANDIDATE -en nl HP:0008390 IAO:0000115 Repeated loss, or shedding, of the nails of the fingers and toes Repeated loss, or shedding, of the nails of the fingers and toes NOT_TRANSLATED -en nl HP:0008391 rdfs:label Dystrophic fingernails Dystrofische vingernagels CANDIDATE -en nl HP:0008391 IAO:0000115 The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate NOT_TRANSLATED -en nl HP:0041159 rdfs:label Fractured rib Fractured rib NOT_TRANSLATED -en nl HP:0041159 IAO:0000115 A partial or complete breakage of the rib A partial or complete breakage of the rib NOT_TRANSLATED -en nl HP:0008392 rdfs:label Subungual hyperkeratosis Subunguale hyperkeratose CANDIDATE -en nl HP:0008392 IAO:0000115 A thickening of the stratum corneum in the region beneath the nails A thickening of the stratum corneum in the region beneath the nails NOT_TRANSLATED -en nl HP:0008393 rdfs:label Congenital curved nail of fourth toe Congenitale gebogen nagel van vierde teen CANDIDATE -en nl HP:0008394 rdfs:label Congenital onychodystrophy Congenitale onychodystrofie CANDIDATE -en nl HP:0041162 rdfs:label Fractured foot bone Fractured foot bone NOT_TRANSLATED -en nl HP:0041162 IAO:0000115 A partial or complete breakage of the foot bone, such as the metatarsal or toe A partial or complete breakage of the foot bone, such as the metatarsal or toe NOT_TRANSLATED -en nl HP:0041163 rdfs:label Fractured manual digit Fractured manual digit NOT_TRANSLATED -en nl HP:0041163 IAO:0000115 A partial or complete breakage of the manual digit A partial or complete breakage of the manual digit NOT_TRANSLATED -en nl HP:0008396 rdfs:label Chronic monilial nail infection Chronische moniliale nagel infectie CANDIDATE -en nl HP:0008396 IAO:0000115 Chronic infection of the nails by Candida species Chronic infection of the nails by Candida species NOT_TRANSLATED -en nl HP:0041164 rdfs:label Fractured talus Fractured talus NOT_TRANSLATED -en nl HP:0041164 IAO:0000115 A partial or complete breakage of the talus A partial or complete breakage of the talus NOT_TRANSLATED -en nl HP:0041165 rdfs:label Fractured maxilla Fractured maxilla NOT_TRANSLATED -en nl HP:0041165 IAO:0000115 A partial or complete breakage of the maxilla A partial or complete breakage of the maxilla NOT_TRANSLATED -en nl HP:0008398 rdfs:label Hypoplastic fifth fingernail Hypoplastische vijfde vingernagel CANDIDATE -en nl HP:0008398 IAO:0000115 A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger NOT_TRANSLATED -en nl HP:0041166 rdfs:label Fractured vertebra Fractured vertebra NOT_TRANSLATED -en nl HP:0041166 IAO:0000115 A partial or complete breakage of the vertebra A partial or complete breakage of the vertebra NOT_TRANSLATED -en nl HP:0008399 rdfs:label Circumungual hyperkeratosis Circumunguale hyperkeratose CANDIDATE -en nl HP:0008399 IAO:0000115 A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails NOT_TRANSLATED -en nl HP:0041167 rdfs:label Fractured cervical vertebra Fractured cervical vertebra NOT_TRANSLATED -en nl HP:0041167 IAO:0000115 A partial or complete breakage of the cervical vertebra A partial or complete breakage of the cervical vertebra NOT_TRANSLATED -en nl HP:0008400 rdfs:label Onycholysis of distal fingernails Onycholyse van distale vingernagels CANDIDATE -en nl HP:0008400 IAO:0000115 Detachment of the distal fingernails from the nail bed Detachment of the distal fingernails from the nail bed NOT_TRANSLATED -en nl HP:0041168 rdfs:label Fractured lumbar vertebra Fractured lumbar vertebra NOT_TRANSLATED -en nl HP:0041168 IAO:0000115 A partial or complete breakage of the lumbar vertebra A partial or complete breakage of the lumbar vertebra NOT_TRANSLATED -en nl HP:0008401 rdfs:label Onychogryposis of toenails Onychogrypose van teennagels CANDIDATE -en nl HP:0008401 IAO:0000115 Thickened toenails Thickened toenails NOT_TRANSLATED -en nl HP:0008402 rdfs:label Ridged fingernail Geribbelde vingernagel CANDIDATE -en nl HP:0008402 IAO:0000115 Longitudinal, linear prominences in the fingernail plate Longitudinal, linear prominences in the fingernail plate NOT_TRANSLATED -en nl HP:0008404 rdfs:label Nail dystrophy Nagel dystrofie CANDIDATE -en nl HP:0008404 IAO:0000115 Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate NOT_TRANSLATED -en nl HP:0041172 rdfs:label Fractured fused sacrum Fractured fused sacrum NOT_TRANSLATED -en nl HP:0041172 IAO:0000115 A partial or complete breakage of the fused sacrum A partial or complete breakage of the fused sacrum NOT_TRANSLATED -en nl HP:0041173 rdfs:label Fractured metacarpophalangeal joint Fractured metacarpophalangeal joint NOT_TRANSLATED -en nl HP:0041173 IAO:0000115 A partial or complete breakage of the metacarpophalangeal joint A partial or complete breakage of the metacarpophalangeal joint NOT_TRANSLATED -en nl HP:0041174 rdfs:label Fractured distal phalanx of manus Fractured distal phalanx of manus NOT_TRANSLATED -en nl HP:0041174 IAO:0000115 A partial or complete breakage of the distal phalanx of manus A partial or complete breakage of the distal phalanx of manus NOT_TRANSLATED -en nl HP:0008407 rdfs:label Hyperconvex thumb nails Hyperconvexe duim nagels CANDIDATE -en nl HP:0041175 rdfs:label Fractured middle phalanx of pes Fractured middle phalanx of pes NOT_TRANSLATED -en nl HP:0041175 IAO:0000115 A partial or complete breakage of the middle phalanx of pes A partial or complete breakage of the middle phalanx of pes NOT_TRANSLATED -en nl HP:0041176 rdfs:label Fractured distal phalanx of manual digit 2 Fractured distal phalanx of manual digit 2 NOT_TRANSLATED -en nl HP:0041176 IAO:0000115 A partial or complete breakage of the distal phalanx of manual digit 2 A partial or complete breakage of the distal phalanx of manual digit 2 NOT_TRANSLATED -en nl HP:0041177 rdfs:label Fractured distal phalanx of manual digit 3 Fractured distal phalanx of manual digit 3 NOT_TRANSLATED -en nl HP:0041177 IAO:0000115 A partial or complete breakage of the distal phalanx of manual digit 3 A partial or complete breakage of the distal phalanx of manual digit 3 NOT_TRANSLATED -en nl HP:0008410 rdfs:label Subungual hyperkeratotic fragments Subunguale hyperkeratotische fragmenten CANDIDATE -en nl HP:0041178 rdfs:label Fractured distal phalanx of manual digit 4 Fractured distal phalanx of manual digit 4 NOT_TRANSLATED -en nl HP:0041178 IAO:0000115 A partial or complete breakage of the distal phalanx of manual digit 4 A partial or complete breakage of the distal phalanx of manual digit 4 NOT_TRANSLATED -en nl HP:0041179 rdfs:label Fractured distal phalanx of manual digit 5 Fractured distal phalanx of manual digit 5 NOT_TRANSLATED -en nl HP:0041179 IAO:0000115 A partial or complete breakage of the distal phalanx of manual digit 5 A partial or complete breakage of the distal phalanx of manual digit 5 NOT_TRANSLATED -en nl HP:0041180 rdfs:label Fractured distal phalanx of pedal digit 1 Fractured distal phalanx of pedal digit 1 NOT_TRANSLATED -en nl HP:0041180 IAO:0000115 A partial or complete breakage of the distal phalanx of pedal digit 1 A partial or complete breakage of the distal phalanx of pedal digit 1 NOT_TRANSLATED -en nl HP:0041181 rdfs:label Fractured distal phalanx of pedal digit 3 Fractured distal phalanx of pedal digit 3 NOT_TRANSLATED -en nl HP:0041181 IAO:0000115 A partial or complete breakage of the distal phalanx of pedal digit 3 A partial or complete breakage of the distal phalanx of pedal digit 3 NOT_TRANSLATED -en nl HP:0008414 rdfs:label Lumbar kyphosis in infancy Lumbale kyfose in zuigelingenperiode CANDIDATE -en nl HP:0041182 rdfs:label Fractured middle phalanx of manual digit 2 Fractured middle phalanx of manual digit 2 NOT_TRANSLATED -en nl HP:0041182 IAO:0000115 A partial or complete breakage of the middle phalanx of manual digit 2 A partial or complete breakage of the middle phalanx of manual digit 2 NOT_TRANSLATED -en nl HP:0041183 rdfs:label Fractured middle phalanx of manual digit 3 Fractured middle phalanx of manual digit 3 NOT_TRANSLATED -en nl HP:0041183 IAO:0000115 A partial or complete breakage of the middle phalanx of manual digit 3 A partial or complete breakage of the middle phalanx of manual digit 3 NOT_TRANSLATED -en nl HP:0008416 rdfs:label Six lumbar vertebrae Zes lumbale wervels CANDIDATE -en nl HP:0041184 rdfs:label Fractured middle phalanx of manual digit 4 Fractured middle phalanx of manual digit 4 NOT_TRANSLATED -en nl HP:0041184 IAO:0000115 A partial or complete breakage of the middle phalanx of manual digit 4 A partial or complete breakage of the middle phalanx of manual digit 4 NOT_TRANSLATED -en nl HP:0008417 rdfs:label Vertebral hypoplasia Vertebrale hypoplasie CANDIDATE -en nl HP:0008417 IAO:0000115 Small, underdeveloped vertebral bodies Small, underdeveloped vertebral bodies NOT_TRANSLATED -en nl HP:0041185 rdfs:label Fractured middle phalanx of manual digit 5 Fractured middle phalanx of manual digit 5 NOT_TRANSLATED -en nl HP:0041185 IAO:0000115 A partial or complete breakage of the middle phalanx of manual digit 5 A partial or complete breakage of the middle phalanx of manual digit 5 NOT_TRANSLATED -en nl HP:0008418 rdfs:label Squared-off platyspondyly Squared-off platyspondyly NOT_TRANSLATED -en nl HP:0041186 rdfs:label Fractured middle phalanx of pedal digit 3 Fractured middle phalanx of pedal digit 3 NOT_TRANSLATED -en nl HP:0041186 IAO:0000115 A partial or complete breakage of the middle phalanx of pedal digit 3 A partial or complete breakage of the middle phalanx of pedal digit 3 NOT_TRANSLATED -en nl HP:0008419 rdfs:label Intervertebral disc degeneration Degeneratie van de tussenwervelschijf CANDIDATE -en nl HP:0008419 IAO:0000115 The presence of degenerative changes of intervertebral disk The presence of degenerative changes of intervertebral disk NOT_TRANSLATED -en nl HP:0041187 rdfs:label Fractured proximal phalanx of pedal digit 1 Fractured proximal phalanx of pedal digit 1 NOT_TRANSLATED -en nl HP:0041187 IAO:0000115 A partial or complete breakage of the proximal phalanx of pedal digit 1 A partial or complete breakage of the proximal phalanx of pedal digit 1 NOT_TRANSLATED -en nl HP:0008420 rdfs:label Punctate vertebral calcifications Punctate vertebral calcifications NOT_TRANSLATED -en nl HP:0008420 IAO:0000115 The presence of punctiform calcification of the bone of the vertebral bodies The presence of punctiform calcification of the bone of the vertebral bodies NOT_TRANSLATED -en nl HP:0041188 rdfs:label Fractured proximal phalanx of manual digit 1 Fractured proximal phalanx of manual digit 1 NOT_TRANSLATED -en nl HP:0041188 IAO:0000115 A partial or complete breakage of the proximal phalanx of manual digit 1 A partial or complete breakage of the proximal phalanx of manual digit 1 NOT_TRANSLATED -en nl HP:0008421 rdfs:label Tall lumbar vertebral bodies Hoge lumbale wervellichamen CANDIDATE -en nl HP:0041189 rdfs:label Fractured epiphysis of femur Fractured epiphysis of femur NOT_TRANSLATED -en nl HP:0041189 IAO:0000115 A partial or complete breakage of the epiphysis of femur A partial or complete breakage of the epiphysis of femur NOT_TRANSLATED -en nl HP:0008422 rdfs:label Vertebral wedging Vertebral wedging NOT_TRANSLATED -en nl HP:0008422 IAO:0000115 An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other NOT_TRANSLATED -en nl HP:0041190 rdfs:label Fractured epiphysis of second metacarpal bone Fractured epiphysis of second metacarpal bone NOT_TRANSLATED -en nl HP:0041190 IAO:0000115 A partial or complete breakage of the epiphysis of second metacarpal bone A partial or complete breakage of the epiphysis of second metacarpal bone NOT_TRANSLATED -en nl HP:0008423 rdfs:label Spinal dysplasia Spinale dysplasie CANDIDATE -en nl HP:0008423 IAO:0000115 The presence of developmental dysplasia of the vertebral column The presence of developmental dysplasia of the vertebral column NOT_TRANSLATED -en nl HP:0041191 rdfs:label Fractured epiphysis of third metacarpal bone Fractured epiphysis of third metacarpal bone NOT_TRANSLATED -en nl HP:0041191 IAO:0000115 A partial or complete breakage of the epiphysis of third metacarpal bone A partial or complete breakage of the epiphysis of third metacarpal bone NOT_TRANSLATED -en nl HP:0008424 rdfs:label Hypoplastic 5th lumbar vertebrae Hypoplastische 5e lumbale wervel CANDIDATE -en nl HP:0041192 rdfs:label Fractured epiphysis of fourth metacarpal bone Fractured epiphysis of fourth metacarpal bone NOT_TRANSLATED -en nl HP:0041192 IAO:0000115 A partial or complete breakage of the epiphysis of fourth metacarpal bone A partial or complete breakage of the epiphysis of fourth metacarpal bone NOT_TRANSLATED -en nl HP:0008425 rdfs:label Cuboid-shaped thoracolumbar vertebral bodies Kubusvormige thoracolumbale wervellichamen CANDIDATE -en nl HP:0041193 rdfs:label Fractured epiphysis of first metatarsal bone Fractured epiphysis of first metatarsal bone NOT_TRANSLATED -en nl HP:0041193 IAO:0000115 A partial or complete breakage of the epiphysis of first metatarsal bone A partial or complete breakage of the epiphysis of first metatarsal bone NOT_TRANSLATED -en nl HP:0041194 rdfs:label Fractured epiphysis of second metatarsal bone Fractured epiphysis of second metatarsal bone NOT_TRANSLATED -en nl HP:0041194 IAO:0000115 A partial or complete breakage of the epiphysis of second metatarsal bone A partial or complete breakage of the epiphysis of second metatarsal bone NOT_TRANSLATED -en nl HP:0041195 rdfs:label Fractured epiphysis of third metatarsal bone Fractured epiphysis of third metatarsal bone NOT_TRANSLATED -en nl HP:0041195 IAO:0000115 A partial or complete breakage of the epiphysis of third metatarsal bone A partial or complete breakage of the epiphysis of third metatarsal bone NOT_TRANSLATED -en nl HP:0008428 rdfs:label Vertebral clefting Vertebrale schisis CANDIDATE -en nl HP:0008428 IAO:0000115 Schisis (cleft or cleavage) of vertebral bodies Schisis (cleft or cleavage) of vertebral bodies NOT_TRANSLATED -en nl HP:0041196 rdfs:label Fractured distal epiphysis of radius Fractured distal epiphysis of radius NOT_TRANSLATED -en nl HP:0041196 IAO:0000115 A partial or complete breakage of the distal epiphysis of radius A partial or complete breakage of the distal epiphysis of radius NOT_TRANSLATED -en nl HP:0041197 rdfs:label Fractured proximal epiphysis of first metacarpal bone Fractured proximal epiphysis of first metacarpal bone NOT_TRANSLATED -en nl HP:0041197 IAO:0000115 A partial or complete breakage of the proximal epiphysis of first metacarpal bone A partial or complete breakage of the proximal epiphysis of first metacarpal bone NOT_TRANSLATED -en nl HP:0008430 rdfs:label Anterior beaking of lumbar vertebrae Anterieure beknelling van lumbale wervels CANDIDATE -en nl HP:0008430 IAO:0000115 Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine NOT_TRANSLATED -en nl HP:0041198 rdfs:label Fractured proximal epiphysis of middle phalanx of manual digit 3 Fractured proximal epiphysis of middle phalanx of manual digit 3 NOT_TRANSLATED -en nl HP:0041198 IAO:0000115 A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3 A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3 NOT_TRANSLATED -en nl HP:0041199 rdfs:label Fractured interphalangeal joint Fractured interphalangeal joint NOT_TRANSLATED -en nl HP:0041199 IAO:0000115 A partial or complete breakage of the interphalangeal joint A partial or complete breakage of the interphalangeal joint NOT_TRANSLATED -en nl HP:0008432 rdfs:label Anterior wedging of L1 Anterior wedging of L1 NOT_TRANSLATED -en nl HP:0008432 IAO:0000115 An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front) An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED -en nl HP:0041200 rdfs:label Fractured sternal end of clavicle Fractured sternal end of clavicle NOT_TRANSLATED -en nl HP:0041200 IAO:0000115 A partial or complete breakage of the sternal end of clavicle A partial or complete breakage of the sternal end of clavicle NOT_TRANSLATED -en nl HP:0008433 rdfs:label Reversed usual vertebral column curves Reversed usual vertebral column curves NOT_TRANSLATED -en nl HP:0008434 rdfs:label Hypoplastic cervical vertebrae Hypoplastische cervicale wervels CANDIDATE -en nl HP:0008435 rdfs:label Absent in utero ossification of vertebral bodies Afwezige ossificatie van wervellichamen in utero CANDIDATE -en nl HP:0008436 rdfs:label Absent/hypoplastic coccyx Afwezig/hypoplastisch coccyx CANDIDATE -en nl HP:0008437 rdfs:label Bifid thoracic vertebrae Bifide thoracale wervels CANDIDATE -en nl HP:0008438 rdfs:label Vertebral arch anomaly Vertebrale boog anomalie CANDIDATE -en nl HP:0008438 IAO:0000115 A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra NOT_TRANSLATED -en nl HP:0008439 rdfs:label Lumbar hemivertebrae Lumbale hemivertebrae CANDIDATE -en nl HP:0008439 IAO:0000115 Absence of one half of the vertebral body in the lumbar spine Absence of one half of the vertebral body in the lumbar spine NOT_TRANSLATED -en nl HP:0008440 rdfs:label C1-C2 vertebral abnormality C1-C2 vertebrale afwijking CANDIDATE -en nl HP:0008440 IAO:0000115 Any abnormality of the atlas and the axis Any abnormality of the atlas and the axis NOT_TRANSLATED -en nl HP:0008441 rdfs:label Herniation of intervertebral nuclei Herniatie van intervertebrale nuclei CANDIDATE -en nl HP:0008441 IAO:0000115 The presence of one or more herniated nucleus pulposus of intervertebral disk The presence of one or more herniated nucleus pulposus of intervertebral disk NOT_TRANSLATED -en nl HP:0041209 rdfs:label Fractured epiphysis of middle phalanx of manus Fractured epiphysis of middle phalanx of manus NOT_TRANSLATED -en nl HP:0041209 IAO:0000115 A partial or complete breakage of the epiphysis of middle phalanx of manus A partial or complete breakage of the epiphysis of middle phalanx of manus NOT_TRANSLATED -en nl HP:0008442 rdfs:label Vertebral hyperostosis Vertebrale hyperostose CANDIDATE -en nl HP:0008442 IAO:0000115 Excessive growth of the bones of the vertebral bodies Excessive growth of the bones of the vertebral bodies NOT_TRANSLATED -en nl HP:0041210 rdfs:label Fractured lateral malleolus of fibula Fractured lateral malleolus of fibula NOT_TRANSLATED -en nl HP:0041210 IAO:0000115 A partial or complete breakage of the lateral malleolus of fibula A partial or complete breakage of the lateral malleolus of fibula NOT_TRANSLATED -en nl HP:0008443 rdfs:label Neuropathic spinal arthropathy Spinale deformiteiten CANDIDATE -en nl HP:0008443 IAO:0000115 A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures NOT_TRANSLATED -en nl HP:0041211 rdfs:label Fractured proximal phalanx of digit 2 Fractured proximal phalanx of digit 2 NOT_TRANSLATED -en nl HP:0041211 IAO:0000115 A partial or complete breakage of the proximal phalanx of digit 2 A partial or complete breakage of the proximal phalanx of digit 2 NOT_TRANSLATED -en nl HP:0008444 rdfs:label Posterior wedging of vertebral bodies Posterior wedging of vertebral bodies NOT_TRANSLATED -en nl HP:0008444 IAO:0000115 An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back) An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back) NOT_TRANSLATED -en nl HP:0041212 rdfs:label Fractured proximal phalanx of digit 3 Fractured proximal phalanx of digit 3 NOT_TRANSLATED -en nl HP:0041212 IAO:0000115 A partial or complete breakage of the proximal phalanx of digit 3 A partial or complete breakage of the proximal phalanx of digit 3 NOT_TRANSLATED -en nl HP:0008445 rdfs:label Cervical spinal canal stenosis Cervicale wervelkanaalstenose CANDIDATE -en nl HP:0008445 IAO:0000115 An abnormal narrowing of the cervical spinal canal An abnormal narrowing of the cervical spinal canal NOT_TRANSLATED -en nl HP:0041213 rdfs:label Fractured proximal phalanx of digit 4 Fractured proximal phalanx of digit 4 NOT_TRANSLATED -en nl HP:0041213 IAO:0000115 A partial or complete breakage of the proximal phalanx of digit 4 A partial or complete breakage of the proximal phalanx of digit 4 NOT_TRANSLATED -en nl HP:0041214 rdfs:label Fractured proximal phalanx of digit 5 Fractured proximal phalanx of digit 5 NOT_TRANSLATED -en nl HP:0041214 IAO:0000115 A partial or complete breakage of the proximal phalanx of digit 5 A partial or complete breakage of the proximal phalanx of digit 5 NOT_TRANSLATED -en nl HP:0008447 rdfs:label Hypoplastic coccygeal vertebrae Hypoplastische coccygeale wervels CANDIDATE -en nl HP:0041215 rdfs:label Fractured fused metatarsal bones 2-4 Fractured fused metatarsal bones 2-4 NOT_TRANSLATED -en nl HP:0041215 IAO:0000115 A partial or complete breakage of the fused metatarsal bones 2-4 A partial or complete breakage of the fused metatarsal bones 2-4 NOT_TRANSLATED -en nl HP:0041216 rdfs:label Fractured distal epiphysis of distal phalanx of manual digit 1 Fractured distal epiphysis of distal phalanx of manual digit 1 NOT_TRANSLATED -en nl HP:0041216 IAO:0000115 A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1 A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1 NOT_TRANSLATED -en nl HP:0008449 rdfs:label Progressive cervical vertebral spine fusion Progressieve cervicale wervelkolomfusie CANDIDATE -en nl HP:0041217 rdfs:label Fractured shoulder Fractured shoulder NOT_TRANSLATED -en nl HP:0041217 IAO:0000115 A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint NOT_TRANSLATED -en nl HP:0008450 rdfs:label Narrow vertebral interpedicular distance Smalle vertebrale interpediculaire afstand CANDIDATE -en nl HP:0008450 IAO:0000115 A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces NOT_TRANSLATED -en nl HP:0041218 rdfs:label Fractured distal phalanx Fractured distal phalanx NOT_TRANSLATED -en nl HP:0041218 IAO:0000115 A partial or complete breakage of the distal phalanx A partial or complete breakage of the distal phalanx NOT_TRANSLATED -en nl HP:0008451 rdfs:label Posterior vertebral hypoplasia Posterieure wervel hypoplasie CANDIDATE -en nl HP:0041219 rdfs:label Fractured elbow Fractured elbow NOT_TRANSLATED -en nl HP:0041219 IAO:0000115 A partial or complete breakage of the elbow A partial or complete breakage of the elbow NOT_TRANSLATED -en nl HP:0008452 rdfs:label Wafer-thin platyspondyly Flinterdunne platyspondylie CANDIDATE -en nl HP:0041220 rdfs:label Fractured facial bone Fractured facial bone NOT_TRANSLATED -en nl HP:0041220 IAO:0000115 A partial or complete breakage of the facial bone A partial or complete breakage of the facial bone NOT_TRANSLATED -en nl HP:0008453 rdfs:label Congenital kyphoscoliosis Congenitale kyfoscoliose CANDIDATE -en nl HP:0041221 rdfs:label Fractured head of femur Fractured head of femur NOT_TRANSLATED -en nl HP:0041221 IAO:0000115 A partial or complete breakage of the head of femur A partial or complete breakage of the head of femur NOT_TRANSLATED -en nl HP:0008454 rdfs:label Lumbar kyphosis Lumbale kyfose CANDIDATE -en nl HP:0008454 IAO:0000115 Over curvature of the lumbar region Over curvature of the lumbar region NOT_TRANSLATED -en nl HP:0041222 rdfs:label Fractured fibula Fractured fibula NOT_TRANSLATED -en nl HP:0041222 IAO:0000115 A partial or complete breakage of the fibula A partial or complete breakage of the fibula NOT_TRANSLATED -en nl HP:0008455 rdfs:label Dysplastic sacrum Dysplastisch sacrum CANDIDATE -en nl HP:0008455 IAO:0000115 A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally NOT_TRANSLATED -en nl HP:0041223 rdfs:label Fractured metatarsal bone of digit 5 Fractured metatarsal bone of digit 5 NOT_TRANSLATED -en nl HP:0041223 IAO:0000115 A partial or complete breakage of the metatarsal bone of digit 5 A partial or complete breakage of the metatarsal bone of digit 5 NOT_TRANSLATED -en nl HP:0008456 rdfs:label C2-C3 subluxation C2-C3 subluxatie CANDIDATE -en nl HP:0008456 IAO:0000115 A partial dislocation of the intervertebral joint between the second and third cervical vertebrae A partial dislocation of the intervertebral joint between the second and third cervical vertebrae NOT_TRANSLATED -en nl HP:0041224 rdfs:label Fractured manual digit bone Fractured manual digit bone NOT_TRANSLATED -en nl HP:0041224 IAO:0000115 A partial or complete breakage of the manual digit bone A partial or complete breakage of the manual digit bone NOT_TRANSLATED -en nl HP:0008457 rdfs:label Caudal interpedicular narrowing Caudale interpediculaire vernauwing CANDIDATE -en nl HP:0008457 IAO:0000115 Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine NOT_TRANSLATED -en nl HP:0041225 rdfs:label Fractured metacarpal bone of digit 1 Fractured metacarpal bone of digit 1 NOT_TRANSLATED -en nl HP:0041225 IAO:0000115 A partial or complete breakage of the metacarpal bone of digit 1 A partial or complete breakage of the metacarpal bone of digit 1 NOT_TRANSLATED -en nl HP:0008458 rdfs:label Progressive congenital scoliosis Progressieve congenitale scoliose CANDIDATE -en nl HP:0008458 IAO:0000115 A progressive form of scoliosis with congenital onset A progressive form of scoliosis with congenital onset NOT_TRANSLATED -en nl HP:0041226 rdfs:label Fractured distal tarsal bone Fractured distal tarsal bone NOT_TRANSLATED -en nl HP:0041226 IAO:0000115 A partial or complete breakage of the distal tarsal bone A partial or complete breakage of the distal tarsal bone NOT_TRANSLATED -en nl HP:0008459 rdfs:label Cervical vertebral agenesis Cervicale vertebrale agenesie CANDIDATE -en nl HP:0008459 IAO:0000115 Agenesis of one or more vertebrae of the cervical vertebral column Agenesis of one or more vertebrae of the cervical vertebral column NOT_TRANSLATED -en nl HP:0041227 rdfs:label Fractured distal tarsal bone 2 Fractured distal tarsal bone 2 NOT_TRANSLATED -en nl HP:0041227 IAO:0000115 A partial or complete breakage of the distal tarsal bone 2 A partial or complete breakage of the distal tarsal bone 2 NOT_TRANSLATED -en nl HP:0008460 rdfs:label Hypoplastic spinal processes Hypoplastische processus spinosus CANDIDATE -en nl HP:0041228 rdfs:label Fractured distal tarsal bone 3 Fractured distal tarsal bone 3 NOT_TRANSLATED -en nl HP:0041228 IAO:0000115 A partial or complete breakage of the distal tarsal bone 3 A partial or complete breakage of the distal tarsal bone 3 NOT_TRANSLATED -en nl HP:0008461 rdfs:label Cervical vertebral facet hypoplasia Cervicale wervel facet hypoplasie CANDIDATE -en nl HP:0008462 rdfs:label Cervical instability Cervicale instabiliteit CANDIDATE -en nl HP:0041230 rdfs:label Fractured metatarsal bone of digit 4 Fractured metatarsal bone of digit 4 NOT_TRANSLATED -en nl HP:0041230 IAO:0000115 A partial or complete breakage of the metatarsal bone of digit 4 A partial or complete breakage of the metatarsal bone of digit 4 NOT_TRANSLATED -en nl HP:0008463 rdfs:label Central vertebral hypoplasia Centrale vertebrale hypoplasie CANDIDATE -en nl HP:0041231 rdfs:label Fractured metatarsal bone of digit 1 Fractured metatarsal bone of digit 1 NOT_TRANSLATED -en nl HP:0041231 IAO:0000115 A partial or complete breakage of the metatarsal bone of digit 1 A partial or complete breakage of the metatarsal bone of digit 1 NOT_TRANSLATED -en nl HP:0008464 rdfs:label Absent spinous processes of lower thoracic and lumbar vertebrae Afwezige processus spinosus van lagere thoracale en lumbale wervels CANDIDATE -en nl HP:0008465 rdfs:label Absent vertebra Afwezige wervel CANDIDATE -en nl HP:0008465 IAO:0000115 A developmental defect characterized by agenesis of one or more vertebral bodies A developmental defect characterized by agenesis of one or more vertebral bodies NOT_TRANSLATED -en nl HP:0041233 rdfs:label Fractured ilium Fractured ilium NOT_TRANSLATED -en nl HP:0041233 IAO:0000115 A partial or complete breakage of the ilium A partial or complete breakage of the ilium NOT_TRANSLATED -en nl HP:0041234 rdfs:label Fractured bone of jaw Fractured bone of jaw NOT_TRANSLATED -en nl HP:0041234 IAO:0000115 A partial or complete breakage of the bone of jaw A partial or complete breakage of the bone of jaw NOT_TRANSLATED -en nl HP:0008467 rdfs:label Thoracic hemivertebrae Thoracale hemivertebrae CANDIDATE -en nl HP:0008467 IAO:0000115 Absence of one half of the vertebral body in the thoracic spine Absence of one half of the vertebral body in the thoracic spine NOT_TRANSLATED -en nl HP:0041235 rdfs:label Fractured hindlimb bone Fractured hindlimb bone NOT_TRANSLATED -en nl HP:0041235 IAO:0000115 A partial or complete breakage of the hindlimb bone A partial or complete breakage of the hindlimb bone NOT_TRANSLATED -en nl HP:0008468 rdfs:label Abnormal sacral segmentation Afwijkende sacrale segmentatie CANDIDATE -en nl HP:0008468 IAO:0000115 An abnormality related to a defect of vertebral separation of sacral vertebrae during development An abnormality related to a defect of vertebral separation of sacral vertebrae during development NOT_TRANSLATED -en nl HP:0041236 rdfs:label Fractured middle phalanx of manus Fractured middle phalanx of manus NOT_TRANSLATED -en nl HP:0041236 IAO:0000115 A partial or complete breakage of the middle phalanx of manus A partial or complete breakage of the middle phalanx of manus NOT_TRANSLATED -en nl HP:0008469 rdfs:label Cervical vertebral dysplasia Cervicale vertebrale dysplasie CANDIDATE -en nl HP:0008469 IAO:0000115 Dysplasia of the cervical vertebral column Dysplasia of the cervical vertebral column NOT_TRANSLATED -en nl HP:0041237 rdfs:label Fractured patella Fractured patella NOT_TRANSLATED -en nl HP:0041237 IAO:0000115 A partial or complete breakage of the patella A partial or complete breakage of the patella NOT_TRANSLATED -en nl HP:0008470 rdfs:label Lower thoracic interpediculate narrowness Lower thoracic interpediculate narrowness NOT_TRANSLATED -en nl HP:0008470 IAO:0000115 A reduction of the distance between the lower thoracic vertebral pedicles A reduction of the distance between the lower thoracic vertebral pedicles NOT_TRANSLATED -en nl HP:0041239 rdfs:label Fractured manual digit 1 phalanx Fractured manual digit 1 phalanx NOT_TRANSLATED -en nl HP:0041239 IAO:0000115 A partial or complete breakage of the manual digit 1 phalanx A partial or complete breakage of the manual digit 1 phalanx NOT_TRANSLATED -en nl HP:0008472 rdfs:label Prominent protruding coccyx Prominent uitstekend coccyx CANDIDATE -en nl HP:0041240 rdfs:label Fractured phalanx of pes Fractured phalanx of pes NOT_TRANSLATED -en nl HP:0041240 IAO:0000115 A partial or complete breakage of the phalanx of pes A partial or complete breakage of the phalanx of pes NOT_TRANSLATED -en nl HP:0008473 rdfs:label Narrow anterio-posterior vertebral body diameter Smalle anterio-posterieure wervellichaam diameter CANDIDATE -en nl HP:0008473 IAO:0000115 An abnormal reduction of the anterioposterior diameter of the vertebral body An abnormal reduction of the anterioposterior diameter of the vertebral body NOT_TRANSLATED -en nl HP:0041241 rdfs:label Fractured phalanx of manus Fractured phalanx of manus NOT_TRANSLATED -en nl HP:0041241 IAO:0000115 A partial or complete breakage of the phalanx of manus A partial or complete breakage of the phalanx of manus NOT_TRANSLATED -en nl HP:0008475 rdfs:label Hypoplastic sacral vertebrae Hypoplastische sacrale wervels CANDIDATE -en nl HP:0041243 rdfs:label Fractured proximal phalanx of manus Fractured proximal phalanx of manus NOT_TRANSLATED -en nl HP:0041243 IAO:0000115 A partial or complete breakage of the proximal phalanx of manus A partial or complete breakage of the proximal phalanx of manus NOT_TRANSLATED -en nl HP:0008476 rdfs:label Irregular sclerotic endplates Irregulaire sclerotische eindplaten CANDIDATE -en nl HP:0041244 rdfs:label Fractured scapula Fractured scapula NOT_TRANSLATED -en nl HP:0041244 IAO:0000115 A partial or complete breakage of the scapula A partial or complete breakage of the scapula NOT_TRANSLATED -en nl HP:0008477 rdfs:label Poorly ossified cervical vertebrae Slecht geossificeerde cervicale wervels CANDIDATE -en nl HP:0008477 IAO:0000115 Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set NOT_TRANSLATED -en nl HP:0041245 rdfs:label Fractured shoulder bone Fractured shoulder bone NOT_TRANSLATED -en nl HP:0041245 IAO:0000115 A partial or complete breakage of a shoulder bone A partial or complete breakage of a shoulder bone NOT_TRANSLATED -en nl HP:0008478 rdfs:label Scheuermann-like vertebral changes Scheuermann-achtige vertebrale veranderingen CANDIDATE -en nl HP:0041246 rdfs:label Fractured sternum Fractured sternum NOT_TRANSLATED -en nl HP:0041246 IAO:0000115 A partial or complete breakage of the sternum A partial or complete breakage of the sternum NOT_TRANSLATED -en nl HP:0008479 rdfs:label Hypoplastic vertebral bodies Hypoplastische wervellichamen CANDIDATE -en nl HP:0041247 rdfs:label Fractured tarsal bone Fractured tarsal bone NOT_TRANSLATED -en nl HP:0041247 IAO:0000115 A partial or complete breakage of the tarsal bone A partial or complete breakage of the tarsal bone NOT_TRANSLATED -en nl HP:0008480 rdfs:label Cervical spondylosis Cervicale spondylose CANDIDATE -en nl HP:0008480 IAO:0000115 The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column NOT_TRANSLATED -en nl HP:0041248 rdfs:label Fractured carpal bone Fractured carpal bone NOT_TRANSLATED -en nl HP:0041248 IAO:0000115 A partial or complete breakage of the carpal bone A partial or complete breakage of the carpal bone NOT_TRANSLATED -en nl HP:0500007 rdfs:label Iris flocculi Iris flocculi CANDIDATE -en nl HP:0500007 IAO:0000115 Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris NOT_TRANSLATED -en nl HP:0041249 rdfs:label Fractured nose Fractured nose NOT_TRANSLATED -en nl HP:0041249 IAO:0000115 A partial or complete breakage of the nose A partial or complete breakage of the nose NOT_TRANSLATED -en nl HP:0500006 rdfs:label Urethritis Urethritis CANDIDATE -en nl HP:0500006 IAO:0000115 Inflammation of the urethra Inflammation of the urethra NOT_TRANSLATED -en nl HP:0008482 rdfs:label Asymmetry of spinal facet joints Asymmetrie van spinale facetgewrichten CANDIDATE -en nl HP:0500005 rdfs:label Anal pain Anale pijn CANDIDATE -en nl HP:0500005 IAO:0000115 Pain in and around the anus or rectum (perianal region) Pain in and around the anus or rectum (perianal region) NOT_TRANSLATED -en nl HP:0008483 rdfs:label Cervical vertebral bodies with decreased anteroposterior diameter Cervicale wervellichamen met verminderde anterio-posterieure diameter CANDIDATE -en nl HP:0008484 rdfs:label Thoracolumbar interpediculate narrowness Thoracolumbar interpediculate narrowness NOT_TRANSLATED -en nl HP:0008484 IAO:0000115 A reduction of the distance between thoracolumbar vertebral pedicles A reduction of the distance between thoracolumbar vertebral pedicles NOT_TRANSLATED -en nl HP:0008486 rdfs:label Lumbar interpedicular narrowing Lumbale interpediculaire vernauwing CANDIDATE -en nl HP:0008486 IAO:0000115 Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column NOT_TRANSLATED -en nl HP:0500001 rdfs:label Body odor Lichaamsgeur CANDIDATE -en nl HP:0500001 IAO:0000115 A perceived unpleasant smell given off by the body A perceived unpleasant smell given off by the body NOT_TRANSLATED -en nl HP:0008488 rdfs:label Anterior rounding of vertebral bodies Anterieure afronding van wervellichamen CANDIDATE -en nl HP:0500015 rdfs:label Abnormal cardiac test Afwijkende cardiale test CANDIDATE -en nl HP:0500015 IAO:0000115 Abnormal test result of cardiovascular physiology Abnormal test result of cardiovascular physiology NOT_TRANSLATED -en nl HP:0008489 rdfs:label Spondylolisthesis at L5-S1 Spondylolisthesis op L5-S1 CANDIDATE -en nl HP:0008489 IAO:0000115 Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1) Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1) NOT_TRANSLATED -en nl HP:0008490 rdfs:label Sacral segmentation defect Sacraal segmentatie defect CANDIDATE -en nl HP:0500013 rdfs:label Lack of gonadotropin-releasing hormone pulsatility Gebrek aan gonadotropin-releasing hormoon pulsatiliteit CANDIDATE -en nl HP:0500013 IAO:0000115 Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion NOT_TRANSLATED -en nl HP:0008491 rdfs:label Premature anterior fontanel closure Premature voorste fontanel sluiting CANDIDATE -en nl HP:0008491 IAO:0000115 Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life NOT_TRANSLATED -en nl HP:0500012 rdfs:label Abnormal gonadotropin-releasing hormone concentration Afwijking van gonadotropin-releasing hormoon niveau CANDIDATE -en nl HP:0500012 IAO:0000115 A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) NOT_TRANSLATED -en nl HP:0500011 rdfs:label Moon facies Maangezicht CANDIDATE -en nl HP:0500011 IAO:0000115 A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin NOT_TRANSLATED -en nl HP:0008494 rdfs:label Inferior lens subluxation Inferior lens subluxation NOT_TRANSLATED -en nl HP:0008494 IAO:0000115 Partial displacement of the lens in the inferior direction Partial displacement of the lens in the inferior direction NOT_TRANSLATED -en nl HP:0500009 rdfs:label Dysplastic gangliocytoma of the cerebellum Dysplastisch gangliocytoom van het cerebellum CANDIDATE -en nl HP:0500009 IAO:0000115 It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum NOT_TRANSLATED -en nl HP:0500008 rdfs:label Cornea verticillata Cornea verticillata CANDIDATE -en nl HP:0500008 IAO:0000115 Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea NOT_TRANSLATED -en nl HP:0008496 rdfs:label Multiple rows of eyelashes Multipele rijen van wimpers CANDIDATE -en nl HP:0500023 rdfs:label Shoulder muscle aplasia Schouder spieren aplasie CANDIDATE -en nl HP:0500023 IAO:0000115 Absence of shoulder muscles Absence of shoulder muscles NOT_TRANSLATED -en nl HP:0008497 rdfs:label Congenital craniofacial dysostosis Congenitale craniofaciale dysostose CANDIDATE -en nl HP:0500022 rdfs:label Abnormal circulating dehydroepiandrosterone concentration Afwijkend serum dehydroepiandrosteron niveau CANDIDATE -en nl HP:0500022 IAO:0000115 A deviation from the normal concentration of dehydroepiandrosterone in the circulation A deviation from the normal concentration of dehydroepiandrosterone in the circulation NOT_TRANSLATED -en nl HP:0008498 rdfs:label No permanent dentition Geen permanente dentitie CANDIDATE -en nl HP:0500021 rdfs:label Reduced brain gamma-aminobutyric acid level by MRS Afgenomen brein gamma-aminoboterzuur niveau met MRS CANDIDATE -en nl HP:0500021 IAO:0000115 An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS) An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0008499 rdfs:label High hypermetropia Hoge hypermetropie CANDIDATE -en nl HP:0008499 IAO:0000115 A severe form of hypermetropia with over +5.00 diopters A severe form of hypermetropia with over +5.00 diopters NOT_TRANSLATED -en nl HP:0500020 rdfs:label Abnormal cardiac biomarker test Afwijkende cardiale biomarker test CANDIDATE -en nl HP:0500020 IAO:0000115 Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes NOT_TRANSLATED -en nl HP:0500019 rdfs:label Abnormal resting energy expenditure from metabolic cart test Abnormal resting energy expenditure from metabolic cart test NOT_TRANSLATED -en nl HP:0500019 IAO:0000115 Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2) Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2) NOT_TRANSLATED -en nl HP:0008501 rdfs:label Median cleft lip and palate Mediaan gespleten lip en gehemelte CANDIDATE -en nl HP:0008501 IAO:0000115 Cleft lip or palate affecting the midline region of the palate Cleft lip or palate affecting the midline region of the palate NOT_TRANSLATED -en nl HP:0500018 rdfs:label Abnormal cardiac exercise stress test Afwijkende cardiale inspannings stresstest CANDIDATE -en nl HP:0500018 IAO:0000115 Abnormal results of exercise on heart function Abnormal results of exercise on heart function NOT_TRANSLATED -en nl HP:0500017 rdfs:label Abnormal cardiac catheterization Afwijkende hart catheterisatie CANDIDATE -en nl HP:0500017 IAO:0000115 Abnormal results from the diagnostic tests resulting from cardiac catheterization Abnormal results from the diagnostic tests resulting from cardiac catheterization NOT_TRANSLATED -en nl HP:0500016 rdfs:label Abnormal cardiac MRI Afwijkende cardiale MRI CANDIDATE -en nl HP:0500016 IAO:0000115 Abnormal results of a MRI for the heart Abnormal results of a MRI for the heart NOT_TRANSLATED -en nl HP:0008504 rdfs:label Moderate sensorineural hearing impairment Matig perceptieve slechthorendheid CANDIDATE -en nl HP:0008504 IAO:0000115 The presence of a moderate form of sensorineural hearing impairment The presence of a moderate form of sensorineural hearing impairment NOT_TRANSLATED -en nl HP:0500031 rdfs:label Sclerosis of the carpal bones Sclerose van de carpale botten CANDIDATE -en nl HP:0500031 IAO:0000115 An elevation in bone density in one or more carpal bones of the hand An elevation in bone density in one or more carpal bones of the hand NOT_TRANSLATED -en nl HP:0500030 rdfs:label Abnormal hepatic glycogen storage Afwijkende hepatische glycogeen opslag CANDIDATE -en nl HP:0500030 IAO:0000115 Change in normal glycogen storage content Change in normal glycogen storage content NOT_TRANSLATED -en nl HP:0008507 rdfs:label Static ophthalmoparesis Statische oftalmoparese CANDIDATE -en nl HP:0500028 rdfs:label Cotton wool plaques Cotton wool plaques NOT_TRANSLATED -en nl HP:0500028 IAO:0000115 Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes NOT_TRANSLATED -en nl HP:0500027 rdfs:label Aplastic colon Aplastisch colon CANDIDATE -en nl HP:0500027 IAO:0000115 Congenital absence of the colon Congenital absence of the colon NOT_TRANSLATED -en nl HP:0008509 rdfs:label Aged leonine appearance Aged leonine appearance NOT_TRANSLATED -en nl HP:0500026 rdfs:label Hypoplasia of the musculature of the pelvis Hypoplasie van de musculatuur van het bekken CANDIDATE -en nl HP:0500026 IAO:0000115 Underdevelopment of the musculature of the pelvis Underdevelopment of the musculature of the pelvis NOT_TRANSLATED -en nl HP:0008511 rdfs:label Central posterior corneal opacity Centrale posterieure corneale opaciteit CANDIDATE -en nl HP:0008511 IAO:0000115 Reduced transparency of the central posterior portion of the corneal stroma Reduced transparency of the central posterior portion of the corneal stroma NOT_TRANSLATED -en nl HP:0500024 rdfs:label Aplasia of the musculature of the pelvis Aplasie van de musculatuur van het bekken CANDIDATE -en nl HP:0500024 IAO:0000115 Absence of the musculature of the pelvis Absence of the musculature of the pelvis NOT_TRANSLATED -en nl HP:0500039 rdfs:label Conjunctival cicatrization Conjunctival cicatrization NOT_TRANSLATED -en nl HP:0500039 IAO:0000115 An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring NOT_TRANSLATED -en nl HP:0008513 rdfs:label Bilateral conductive hearing impairment Bilaterale conductieve slechthorendheid CANDIDATE -en nl HP:0008513 IAO:0000115 A bilateral type of conductive hearing impairment A bilateral type of conductive hearing impairment NOT_TRANSLATED -en nl HP:0500037 rdfs:label Nasolacrimal sac epithelial papillary carcinoma Nasolacrimal sac epithelial papillary carcinoma NOT_TRANSLATED -en nl HP:0500037 IAO:0000115 The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac NOT_TRANSLATED -en nl HP:0008515 rdfs:label Aplasia/Hypoplasia of the vertebrae Aplasia/Hypoplasie van de wervels CANDIDATE -en nl HP:0500036 rdfs:label Nasolacrimal sac papilloma Nasolacrimal sac papilloma NOT_TRANSLATED -en nl HP:0500036 IAO:0000115 Benign tumor of the nasolacrimal sac Benign tumor of the nasolacrimal sac NOT_TRANSLATED -en nl HP:0008516 rdfs:label Abnormality of the vertebral spinous processes Afwijking van de vertebrale processus spinosus CANDIDATE -en nl HP:0500035 rdfs:label Nasolacrimal sac granuloma Nasolacrimal sac granuloma NOT_TRANSLATED -en nl HP:0500035 IAO:0000115 A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac NOT_TRANSLATED -en nl HP:0008517 rdfs:label Aplasia/Hypoplasia of the sacrum Aplasia/Hypoplasie van het sacrum CANDIDATE -en nl HP:0008517 IAO:0000115 Aplasia or developmental hypoplasia of the sacral bone Aplasia or developmental hypoplasia of the sacral bone NOT_TRANSLATED -en nl HP:0500034 rdfs:label Nasolacrimal sac obstruction Nasolacrimal sac obstruction NOT_TRANSLATED -en nl HP:0500034 IAO:0000115 Blockage of the nasolacrimal sac Blockage of the nasolacrimal sac NOT_TRANSLATED -en nl HP:0008518 rdfs:label Aplasia/Hypoplasia involving the vertebral column Aplasia/Hypoplasie waarbij de wervelkolom betrokken is CANDIDATE -en nl HP:0500033 rdfs:label Abnormal natural killer subset distribution Afwijkende natural killer subset distributie CANDIDATE -en nl HP:0500033 IAO:0000115 Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells NOT_TRANSLATED -en nl HP:0008519 rdfs:label Abnormal coccyx morphology Afwijking van het coccyx CANDIDATE -en nl HP:0008519 IAO:0000115 Any structural abnormality of the coccyx Any structural abnormality of the coccyx NOT_TRANSLATED -en nl HP:0500032 rdfs:label Abnormal neuron branching Afwijkende neuron vertakking CANDIDATE -en nl HP:0500032 IAO:0000115 Abnormality of the structure and branching of the dendrites of a neuron Abnormality of the structure and branching of the dendrites of a neuron NOT_TRANSLATED -en nl HP:0500047 rdfs:label Nasolacrimal sac lymphoma Nasolacrimal sac lymphoma NOT_TRANSLATED -en nl HP:0500047 IAO:0000115 A type of lymphoma that involves the nasolacrimal sac A type of lymphoma that involves the nasolacrimal sac NOT_TRANSLATED -en nl HP:0500046 rdfs:label Seborrhoeic blepharitis Seborrhoeic blepharitis NOT_TRANSLATED -en nl HP:0500046 IAO:0000115 Inflamation of the eyelid due to overactivity of the sebaceous gland Inflamation of the eyelid due to overactivity of the sebaceous gland NOT_TRANSLATED -en nl HP:0500045 rdfs:label Collier's sign Collier's sign NOT_TRANSLATED -en nl HP:0500045 IAO:0000115 A unilateral or bilateral eyelid retraction due to midbrain lesions A unilateral or bilateral eyelid retraction due to midbrain lesions NOT_TRANSLATED -en nl HP:0008523 rdfs:label Posterior helix pit Posterieure helix pit CANDIDATE -en nl HP:0008523 IAO:0000115 Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated NOT_TRANSLATED -en nl HP:0500044 rdfs:label Upper eyelid retraction Upper eyelid retraction NOT_TRANSLATED -en nl HP:0500044 IAO:0000115 An elevation of the eyelid above the normal level in the primary position An elevation of the eyelid above the normal level in the primary position NOT_TRANSLATED -en nl HP:0500043 rdfs:label Eyelid retraction Eyelid retraction NOT_TRANSLATED -en nl HP:0500043 IAO:0000115 With the eyes in primary position, the sclera is visible above the superior corneal limbus With the eyes in primary position, the sclera is visible above the superior corneal limbus NOT_TRANSLATED -en nl HP:0500042 rdfs:label Latent hypermetropia Latent hypermetropia NOT_TRANSLATED -en nl HP:0500042 IAO:0000115 A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye NOT_TRANSLATED -en nl HP:0500041 rdfs:label Myopic astigmatism Myopic astigmatism NOT_TRANSLATED -en nl HP:0500041 IAO:0000115 A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest NOT_TRANSLATED -en nl HP:0008527 rdfs:label Congenital sensorineural hearing impairment Congenitale perceptieve slechthorendheid CANDIDATE -en nl HP:0008527 IAO:0000115 A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset NOT_TRANSLATED -en nl HP:0500040 rdfs:label Dermolipoma of the conjunctiva Dermolipoma of the conjunctiva NOT_TRANSLATED -en nl HP:0500040 IAO:0000115 A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix NOT_TRANSLATED -en nl HP:0008528 rdfs:label Long hairs growing from helix of pinna Long hairs growing from helix of pinna NOT_TRANSLATED -en nl HP:0500055 rdfs:label Retinopathy of prematurity stage 4b Retinopathy of prematurity stage 4b NOT_TRANSLATED -en nl HP:0500055 IAO:0000115 A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well NOT_TRANSLATED -en nl HP:0008529 rdfs:label Absence of acoustic reflex Afwezigheid van akoestische reflex CANDIDATE -en nl HP:0008529 IAO:0000115 Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli NOT_TRANSLATED -en nl HP:0500054 rdfs:label Retinopathy of prematurity stage 4a Retinopathy of prematurity stage 4a NOT_TRANSLATED -en nl HP:0500054 IAO:0000115 A detachment that involves the peripheral retina that does not extend into the macula A detachment that involves the peripheral retina that does not extend into the macula NOT_TRANSLATED -en nl HP:0500053 rdfs:label Retinopathy of prematurity stage 4 Retinopathy of prematurity stage 4 NOT_TRANSLATED -en nl HP:0500053 IAO:0000115 Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment NOT_TRANSLATED -en nl HP:0500052 rdfs:label Retinopathy of prematurity stage 3 Retinopathy of prematurity stage 3 NOT_TRANSLATED -en nl HP:0500052 IAO:0000115 The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina NOT_TRANSLATED -en nl HP:0500051 rdfs:label Retinopathy of prematurity stage 2 Retinopathy of prematurity stage 2 NOT_TRANSLATED -en nl HP:0500051 IAO:0000115 The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous NOT_TRANSLATED -en nl HP:0500050 rdfs:label Retinopathy of prematurity stage 1 Retinopathy of prematurity stage 1 NOT_TRANSLATED -en nl HP:0500050 IAO:0000115 The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina NOT_TRANSLATED -en nl HP:0500049 rdfs:label Retinopathy of prematurity Retinopathy of prematurity NOT_TRANSLATED -en nl HP:0500049 IAO:0000115 An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness NOT_TRANSLATED -en nl HP:0500048 rdfs:label Delayed canalization of nasolacrimal duct Delayed canalization of nasolacrimal duct NOT_TRANSLATED -en nl HP:0500048 IAO:0000115 A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period NOT_TRANSLATED -en nl HP:0500063 rdfs:label Retinopathy of prematurity pre-plus Retinopathy of prematurity pre-plus NOT_TRANSLATED -en nl HP:0500063 IAO:0000115 As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal NOT_TRANSLATED -en nl HP:0008537 rdfs:label Cleft at the superior portion of the pinna Cleft at the superior portion of the pinna NOT_TRANSLATED -en nl HP:0500062 rdfs:label Retinopathy of prematurity plus Retinopathy of prematurity plus NOT_TRANSLATED -en nl HP:0500062 IAO:0000115 Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye NOT_TRANSLATED -en nl HP:0500061 rdfs:label Retinopathy of prematurity zone III Retinopathy of prematurity zone III NOT_TRANSLATED -en nl HP:0500061 IAO:0000115 Retinopathy which is a residual crescent of retina anterior to zone II Retinopathy which is a residual crescent of retina anterior to zone II NOT_TRANSLATED -en nl HP:0500060 rdfs:label Retinopathy of prematurity zone II Retinopathy of prematurity zone II NOT_TRANSLATED -en nl HP:0500060 IAO:0000115 Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata NOT_TRANSLATED -en nl HP:0500059 rdfs:label Retinopathy of prematurity zone I Retinopathy of prematurity zone I NOT_TRANSLATED -en nl HP:0500059 IAO:0000115 Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula NOT_TRANSLATED -en nl HP:0008541 rdfs:label Superiorly displaced ears Superiorly displaced ears NOT_TRANSLATED -en nl HP:0500058 rdfs:label Retinopathy of prematurity stage 5b Retinopathy of prematurity stage 5b NOT_TRANSLATED -en nl HP:0500058 IAO:0000115 A closed funnel detachment of the retina with generally traction in all four quadrants A closed funnel detachment of the retina with generally traction in all four quadrants NOT_TRANSLATED -en nl HP:0008542 rdfs:label Low-frequency hearing loss Laag-frequentie gehoorverlies CANDIDATE -en nl HP:0008542 IAO:0000115 A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz) A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz) NOT_TRANSLATED -en nl HP:0500057 rdfs:label Retinopathy of prematurity stage 5a Retinopathy of prematurity stage 5a NOT_TRANSLATED -en nl HP:0500057 IAO:0000115 An open funnel detachment of the retina with generally traction in all four quadrants An open funnel detachment of the retina with generally traction in all four quadrants NOT_TRANSLATED -en nl HP:0500056 rdfs:label Retinopathy of prematurity stage 5 Retinopathy of prematurity stage 5 NOT_TRANSLATED -en nl HP:0500056 IAO:0000115 Funnel detachment from the retina with generally traction in all four quadrants Funnel detachment from the retina with generally traction in all four quadrants NOT_TRANSLATED -en nl HP:0008544 rdfs:label Abnormally folded helix Afwijkend gevouwen helix CANDIDATE -en nl HP:0008544 IAO:0000115 Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape NOT_TRANSLATED -en nl HP:0500070 rdfs:label Conjunctival dermolipoma Conjunctival dermolipoma NOT_TRANSLATED -en nl HP:0500070 IAO:0000115 A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus NOT_TRANSLATED -en nl HP:0500069 rdfs:label Paralytic ectropion Paralytic ectropion NOT_TRANSLATED -en nl HP:0500069 IAO:0000115 A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy NOT_TRANSLATED -en nl HP:0500066 rdfs:label Latent myopia Latent myopia NOT_TRANSLATED -en nl HP:0500066 IAO:0000115 The difference between total and manifest myopia The difference between total and manifest myopia NOT_TRANSLATED -en nl HP:0500065 rdfs:label Retinopathy of prematurity prethreshold Retinopathy of prematurity prethreshold NOT_TRANSLATED -en nl HP:0500065 IAO:0000115 High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both NOT_TRANSLATED -en nl HP:0008551 rdfs:label Microtia Microtie CANDIDATE -en nl HP:0008551 IAO:0000115 Underdevelopment of the external ear Underdevelopment of the external ear NOT_TRANSLATED -en nl HP:0500064 rdfs:label Retinopathy of prematurity threshold Retinopathy of prematurity threshold NOT_TRANSLATED -en nl HP:0500064 IAO:0000115 A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease NOT_TRANSLATED -en nl HP:0500079 rdfs:label Alternating hypophoria Alternating hypophoria NOT_TRANSLATED -en nl HP:0500079 IAO:0000115 A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards NOT_TRANSLATED -en nl HP:0500078 rdfs:label Alternating hypotropia Alternating hypotropia NOT_TRANSLATED -en nl HP:0500078 IAO:0000115 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards NOT_TRANSLATED -en nl HP:0008554 rdfs:label Cochlear malformation Cochleaire malformatie CANDIDATE -en nl HP:0008554 IAO:0000115 The presence of a malformed cochlea The presence of a malformed cochlea NOT_TRANSLATED -en nl HP:0500077 rdfs:label Alternating hyperphoria Alternating hyperphoria NOT_TRANSLATED -en nl HP:0500077 IAO:0000115 A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards NOT_TRANSLATED -en nl HP:0008555 rdfs:label Absent vestibular function Afwezig vestibulaire functie CANDIDATE -en nl HP:0008555 IAO:0000115 Complete lack of functioning of the vestibular apparatus Complete lack of functioning of the vestibular apparatus NOT_TRANSLATED -en nl HP:0500076 rdfs:label Alternating hypertropia Alternating hypertropia NOT_TRANSLATED -en nl HP:0500076 IAO:0000115 A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards NOT_TRANSLATED -en nl HP:0500075 rdfs:label Dissociated horizontal deviation Dissociated horizontal deviation NOT_TRANSLATED -en nl HP:0500075 IAO:0000115 A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes NOT_TRANSLATED -en nl HP:0500074 rdfs:label Dissociated vertical deviation Dissociated vertical deviation NOT_TRANSLATED -en nl HP:0500074 IAO:0000115 An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering NOT_TRANSLATED -en nl HP:0500073 rdfs:label Abnormal ocular alignment Abnormal ocular alignment NOT_TRANSLATED -en nl HP:0500073 IAO:0000115 Any deviation from the normal ocular alignment Any deviation from the normal ocular alignment NOT_TRANSLATED -en nl HP:0008559 rdfs:label Hypoplastic superior helix Hypoplastic superior helix NOT_TRANSLATED -en nl HP:0500072 rdfs:label Absolute eccentric fixation Absolute eccentric fixation NOT_TRANSLATED -en nl HP:0500072 IAO:0000115 Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation NOT_TRANSLATED -en nl HP:0500087 rdfs:label Peripapillary atrophy Peripapillary atrophy NOT_TRANSLATED -en nl HP:0500087 IAO:0000115 Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve NOT_TRANSLATED -en nl HP:0500086 rdfs:label Optic nerve gray crescent Optic nerve gray crescent NOT_TRANSLATED -en nl HP:0500086 IAO:0000115 Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas NOT_TRANSLATED -en nl HP:0500081 rdfs:label Pseudophakia Pseudophakia NOT_TRANSLATED -en nl HP:0500081 IAO:0000115 The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL) The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL) NOT_TRANSLATED -en nl HP:0008568 rdfs:label Vestibular areflexia Vestibulaire areflexie CANDIDATE -en nl HP:0008568 IAO:0000115 Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography NOT_TRANSLATED -en nl HP:0500095 rdfs:label Food-induced anaphylaxis Food-induced anaphylaxis NOT_TRANSLATED -en nl HP:0500095 IAO:0000115 Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food NOT_TRANSLATED -en nl HP:0008569 rdfs:label Microtia, second degree Microtie, tweedegraads CANDIDATE -en nl HP:0008569 IAO:0000115 Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear NOT_TRANSLATED -en nl HP:0500094 rdfs:label Latex allergy Latex allergy NOT_TRANSLATED -en nl HP:0500094 IAO:0000115 Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis NOT_TRANSLATED -en nl HP:0500093 rdfs:label Food allergy Food allergy NOT_TRANSLATED -en nl HP:0500093 IAO:0000115 Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods NOT_TRANSLATED -en nl HP:0500092 rdfs:label Orbital rhabdomyosarcoma Orbital rhabdomyosarcoma NOT_TRANSLATED -en nl HP:0500092 IAO:0000115 A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit NOT_TRANSLATED -en nl HP:0008572 rdfs:label External ear malformation Externe oor malformatie CANDIDATE -en nl HP:0008572 IAO:0000115 A malformation of the auricle of the ear A malformation of the auricle of the ear NOT_TRANSLATED -en nl HP:0500091 rdfs:label Lymphangioma of the orbit Lymphangioma of the orbit NOT_TRANSLATED -en nl HP:0500091 IAO:0000115 A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage NOT_TRANSLATED -en nl HP:0008573 rdfs:label Low-frequency sensorineural hearing impairment Laag-frequente perceptieve slechthorendheid CANDIDATE -en nl HP:0008573 IAO:0000115 A form of sensorineural hearing impairment that affects primarily the lower frequencies A form of sensorineural hearing impairment that affects primarily the lower frequencies NOT_TRANSLATED -en nl HP:0500090 rdfs:label Periocular capillary hemangioma Periocular capillary hemangioma NOT_TRANSLATED -en nl HP:0500090 IAO:0000115 A capillary hemangioma surrounding the eyeball but within the orbit A capillary hemangioma surrounding the eyeball but within the orbit NOT_TRANSLATED -en nl HP:0500089 rdfs:label Optic nerve sheath meningioma Optic nerve sheath meningioma NOT_TRANSLATED -en nl HP:0500089 IAO:0000115 A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 NOT_TRANSLATED -en nl HP:0500088 rdfs:label Foveal depigmentation Foveal depigmentation NOT_TRANSLATED -en nl HP:0500088 IAO:0000115 Loss of pigment in the fovea centralis Loss of pigment in the fovea centralis NOT_TRANSLATED -en nl HP:0008577 rdfs:label Underfolded helix Ondergevouwen helix CANDIDATE -en nl HP:0008577 IAO:0000115 Underdevelopment of the helix that either affects the entire helix, or is localized Underdevelopment of the helix that either affects the entire helix, or is localized NOT_TRANSLATED -en nl HP:0500101 rdfs:label Gastric fluid xenobiotic Gastric fluid xenobiotic NOT_TRANSLATED -en nl HP:0500101 IAO:0000115 Presence of a xenobiotic in gastric fluid Presence of a xenobiotic in gastric fluid NOT_TRANSLATED -en nl HP:0500100 rdfs:label Plasma/serum xenobiotic Plasma/serum xenobiotic NOT_TRANSLATED -en nl HP:0500100 IAO:0000115 Presence of a xenobiotic in plasma and/or serum Presence of a xenobiotic in plasma and/or serum NOT_TRANSLATED -en nl HP:0500099 rdfs:label Hair xenobiotic Hair xenobiotic NOT_TRANSLATED -en nl HP:0500099 IAO:0000115 Presence of xenobiotic in hair Presence of xenobiotic in hair NOT_TRANSLATED -en nl HP:0500098 rdfs:label Meconium xenobiotic Meconium xenobiotic NOT_TRANSLATED -en nl HP:0500098 IAO:0000115 Presence of a xenobiotic in meconium Presence of a xenobiotic in meconium NOT_TRANSLATED -en nl HP:0500097 rdfs:label Stool xenobiotic Stool xenobiotic NOT_TRANSLATED -en nl HP:0500097 IAO:0000115 Presence of xenobiotic in stool Presence of xenobiotic in stool NOT_TRANSLATED -en nl HP:0008583 rdfs:label Underfolded superior helices Ondergevouwen superior helices CANDIDATE -en nl HP:0008583 IAO:0000115 A condition in which the superior portion of the helix is folded over to a lesser degree than normal A condition in which the superior portion of the helix is folded over to a lesser degree than normal NOT_TRANSLATED -en nl HP:0500096 rdfs:label Venom-induced anaphylaxis Venom-induced anaphylaxis NOT_TRANSLATED -en nl HP:0500096 IAO:0000115 A form of anaphylaxis that is triggered by exposure to venom A form of anaphylaxis that is triggered by exposure to venom NOT_TRANSLATED -en nl HP:0500111 rdfs:label Positive urine benzodiazepines test Positive urine benzodiazepines test NOT_TRANSLATED -en nl HP:0500111 IAO:0000115 Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine NOT_TRANSLATED -en nl HP:0500110 rdfs:label Positive urine cannabinoid test Positive urine cannabinoid test NOT_TRANSLATED -en nl HP:0500110 IAO:0000115 Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine NOT_TRANSLATED -en nl HP:0008586 rdfs:label Hypoplasia of the cochlea Hypoplasie van de cochlea CANDIDATE -en nl HP:0008586 IAO:0000115 Developmental hypoplasia of the cochlea Developmental hypoplasia of the cochlea NOT_TRANSLATED -en nl HP:0500109 rdfs:label Positive urine barbiturate test Positive urine barbiturate test NOT_TRANSLATED -en nl HP:0500109 IAO:0000115 Detection of barbiturate metabolites such as Phenobarbital in urine Detection of barbiturate metabolites such as Phenobarbital in urine NOT_TRANSLATED -en nl HP:0008587 rdfs:label Mild neurosensory hearing impairment Milde perceptieve slechthorendheid CANDIDATE -en nl HP:0008587 IAO:0000115 The presence of a mild form of sensorineural hearing impairment The presence of a mild form of sensorineural hearing impairment NOT_TRANSLATED -en nl HP:0500108 rdfs:label Positive urine cocaine test Positive urine cocaine test NOT_TRANSLATED -en nl HP:0500108 IAO:0000115 Detection of cocaine or its major metabolite, benzoylecgonine, in urine Detection of cocaine or its major metabolite, benzoylecgonine, in urine NOT_TRANSLATED -en nl HP:0008588 rdfs:label Slit-like opening of the exterior auditory meatus Gleuf-achtige opening van de externe gehoorgang CANDIDATE -en nl HP:0008588 IAO:0000115 A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit NOT_TRANSLATED -en nl HP:0500107 rdfs:label Isolated diastolic hypotension Isolated diastolic hypotension NOT_TRANSLATED -en nl HP:0500107 IAO:0000115 A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg) A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg) NOT_TRANSLATED -en nl HP:0008589 rdfs:label Hypoplastic helices Hypoplastische helices CANDIDATE -en nl HP:0008589 IAO:0000115 Underdevelopment of the helix, i.e., of the outer rim of the pinna Underdevelopment of the helix, i.e., of the outer rim of the pinna NOT_TRANSLATED -en nl HP:0500106 rdfs:label Isolated systolic hypertension Isolated systolic hypertension NOT_TRANSLATED -en nl HP:0500106 IAO:0000115 Elevated systolic blood pressure without an elevated blood pressure Elevated systolic blood pressure without an elevated blood pressure NOT_TRANSLATED -en nl HP:0500105 rdfs:label Decreased systolic blood pressure Decreased systolic blood pressure NOT_TRANSLATED -en nl HP:0500105 IAO:0000115 Abnormal decrease in systolic blood pressure Abnormal decrease in systolic blood pressure NOT_TRANSLATED -en nl HP:0008591 rdfs:label Congenital conductive hearing impairment Congenitale conductieve slechthorendheid CANDIDATE -en nl HP:0008591 IAO:0000115 A type of conductive deafness with congenital onset A type of conductive deafness with congenital onset NOT_TRANSLATED -en nl HP:0500104 rdfs:label Decreased diastolic blood pressure Decreased diastolic blood pressure NOT_TRANSLATED -en nl HP:0500104 IAO:0000115 Abnormal decrease in diastolic blood pressure Abnormal decrease in diastolic blood pressure NOT_TRANSLATED -en nl HP:0008593 rdfs:label Prominent antitragus Prominente antitragus CANDIDATE -en nl HP:0008593 IAO:0000115 Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix NOT_TRANSLATED -en nl HP:0500117 rdfs:label Abnormal CSF urate concentration Abnormal CSF urate concentration NOT_TRANSLATED -en nl HP:0500117 IAO:0000115 Abnormal concentration of urate in the cerebrospinal fluid (CSF) Abnormal concentration of urate in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0500116 rdfs:label Positive blood barbiturate test Positive blood barbiturate test NOT_TRANSLATED -en nl HP:0500116 IAO:0000115 Detection of barbiturate metabolites such as Phenobarbital in blood Detection of barbiturate metabolites such as Phenobarbital in blood NOT_TRANSLATED -en nl HP:0008596 rdfs:label Postlingual sensorineural hearing impairment Postlinguale perceptief slechthorendheid CANDIDATE -en nl HP:0008596 IAO:0000115 A form of sensorineural hearing impairment with onset after the acquisition of speech A form of sensorineural hearing impairment with onset after the acquisition of speech NOT_TRANSLATED -en nl HP:0500115 rdfs:label Increased stool urobilinogen concentration Increased stool urobilinogen concentration NOT_TRANSLATED -en nl HP:0500115 IAO:0000115 An increased amount of urobilinogen present in the stool An increased amount of urobilinogen present in the stool NOT_TRANSLATED -en nl HP:0500114 rdfs:label Abnormal stool urobilinogen concentration Abnormal stool urobilinogen concentration NOT_TRANSLATED -en nl HP:0500114 IAO:0000115 Abnormal concentration of urobilinogen present in the stool Abnormal concentration of urobilinogen present in the stool NOT_TRANSLATED -en nl HP:0008598 rdfs:label Mild conductive hearing impairment Milde conductieve slechthorendheid CANDIDATE -en nl HP:0008598 IAO:0000115 A mild form of conductive hearing impairment A mild form of conductive hearing impairment NOT_TRANSLATED -en nl HP:0500113 rdfs:label Positive urine opioid test Positive urine opioid test NOT_TRANSLATED -en nl HP:0500113 IAO:0000115 Detection of opioids or opioid metabolites in urine Detection of opioids or opioid metabolites in urine NOT_TRANSLATED -en nl HP:0500112 rdfs:label Positive urine amphetamine test Positive urine amphetamine test NOT_TRANSLATED -en nl HP:0500112 IAO:0000115 Detection of amphetamine or its metabolites in urine Detection of amphetamine or its metabolites in urine NOT_TRANSLATED -en nl HP:0008605 rdfs:label Unilateral external ear deformity Unilaterale vervorming van externe oor CANDIDATE -en nl HP:0008606 rdfs:label Supraauricular pit Supraauricular pit NOT_TRANSLATED -en nl HP:0008606 IAO:0000115 Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit NOT_TRANSLATED -en nl HP:0008607 rdfs:label Progressive conductive hearing impairment Progressieve conductieve slechthorendheid CANDIDATE -en nl HP:0008607 IAO:0000115 A progressive type of conductive deafness A progressive type of conductive deafness NOT_TRANSLATED -en nl HP:0008608 rdfs:label Hypertrophic auricular cartilage Hypertrophic auricular cartilage NOT_TRANSLATED -en nl HP:0500135 rdfs:label Hypotryptophanemia Hypotryptophanemia NOT_TRANSLATED -en nl HP:0500135 IAO:0000115 A decreased amount of tryptophan in the blood A decreased amount of tryptophan in the blood NOT_TRANSLATED -en nl HP:0008609 rdfs:label Morphological abnormality of the middle ear Morfologische afwijking van het middenoor CANDIDATE -en nl HP:0008609 IAO:0000115 An abnormality of the morphology or structure of the middle ear An abnormality of the morphology or structure of the middle ear NOT_TRANSLATED -en nl HP:0500134 rdfs:label Hypertryptophanemia Hypertryptophanemia NOT_TRANSLATED -en nl HP:0500134 IAO:0000115 An increased amount of tryptophan in the blood An increased amount of tryptophan in the blood NOT_TRANSLATED -en nl HP:0008610 rdfs:label Infantile sensorineural hearing impairment Infantiele perceptieve slechthorendheid CANDIDATE -en nl HP:0008610 IAO:0000115 A form of sensorineural hearing impairment with infantile onset A form of sensorineural hearing impairment with infantile onset NOT_TRANSLATED -en nl HP:0500133 rdfs:label Hypotyrosinemia Hypotyrosinemia NOT_TRANSLATED -en nl HP:0500133 IAO:0000115 An decreased concentration of tyrosine in the blood An decreased concentration of tyrosine in the blood NOT_TRANSLATED -en nl HP:0500132 rdfs:label Hypovalinemia Hypovalinemia NOT_TRANSLATED -en nl HP:0500132 IAO:0000115 A decreased amount of valine in the blood A decreased amount of valine in the blood NOT_TRANSLATED -en nl HP:0008615 rdfs:label Adult onset sensorineural hearing impairment Adult onset van perceptieve slechthorendheid CANDIDATE -en nl HP:0008615 IAO:0000115 The presence of sensorineural deafness with late onset The presence of sensorineural deafness with late onset NOT_TRANSLATED -en nl HP:0500143 rdfs:label Hypoleucinemia Hypoleucinemia NOT_TRANSLATED -en nl HP:0500143 IAO:0000115 Decreased amount of leucine in the blood Decreased amount of leucine in the blood NOT_TRANSLATED -en nl HP:0500142 rdfs:label Hypolysinemia Hypolysinemia NOT_TRANSLATED -en nl HP:0500142 IAO:0000115 A decreased amount of lysine in the blood A decreased amount of lysine in the blood NOT_TRANSLATED -en nl HP:0500141 rdfs:label Hypophenylalaninemia Hypophenylalaninemia NOT_TRANSLATED -en nl HP:0500141 IAO:0000115 A decreased amount of phenylalanine in the blood A decreased amount of phenylalanine in the blood NOT_TRANSLATED -en nl HP:0008619 rdfs:label Bilateral sensorineural hearing impairment Bilaterale perceptieve slechthorendheid CANDIDATE -en nl HP:0008619 IAO:0000115 A bilateral form of sensorineural hearing impairment A bilateral form of sensorineural hearing impairment NOT_TRANSLATED -en nl HP:0500140 rdfs:label Decreased circulating hydroxyproline concentration Decreased circulating hydroxyproline concentration NOT_TRANSLATED -en nl HP:0500140 IAO:0000115 A decreased amount of hydroxyproline in the blood A decreased amount of hydroxyproline in the blood NOT_TRANSLATED -en nl HP:0500139 rdfs:label Hypoprolinemia Hypoprolinemia NOT_TRANSLATED -en nl HP:0500139 IAO:0000115 A decreased amount of proline in the blood A decreased amount of proline in the blood NOT_TRANSLATED -en nl HP:0500138 rdfs:label Hyperserinemia Hyperserinemia NOT_TRANSLATED -en nl HP:0500138 IAO:0000115 An increased amount of serine in the blood An increased amount of serine in the blood NOT_TRANSLATED -en nl HP:0500136 rdfs:label Hypothreoninemia Hypothreoninemia NOT_TRANSLATED -en nl HP:0500136 IAO:0000115 A decreased amount of threonine in the blood A decreased amount of threonine in the blood NOT_TRANSLATED -en nl HP:0500151 rdfs:label Hypercystinemia Hypercystinemia NOT_TRANSLATED -en nl HP:0500151 IAO:0000115 An increased amount of cystine in the blood An increased amount of cystine in the blood NOT_TRANSLATED -en nl HP:0008625 rdfs:label Severe sensorineural hearing impairment Ernstige perceptieve slechthorendheid CANDIDATE -en nl HP:0008625 IAO:0000115 A severe form of sensorineural hearing impairment A severe form of sensorineural hearing impairment NOT_TRANSLATED -en nl HP:0500150 rdfs:label Hypoglutamatemia Hypoglutamatemia NOT_TRANSLATED -en nl HP:0500150 IAO:0000115 A decreased amount of glutamate in the blood A decreased amount of glutamate in the blood NOT_TRANSLATED -en nl HP:0500149 rdfs:label Hyperglutamatemia Hyperglutamatemia NOT_TRANSLATED -en nl HP:0500149 IAO:0000115 An increased amount of glutamate in the blood An increased amount of glutamate in the blood NOT_TRANSLATED -en nl HP:0500148 rdfs:label Abnormal circulating glutamate concentration Abnormal circulating glutamate concentration NOT_TRANSLATED -en nl HP:0500148 IAO:0000115 Any deviation from the normal concentration of glutamate in the blood circulation Any deviation from the normal concentration of glutamate in the blood circulation NOT_TRANSLATED -en nl HP:0008628 rdfs:label Abnormality of the stapes Afwijking van de stapes CANDIDATE -en nl HP:0008628 IAO:0000115 An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear NOT_TRANSLATED -en nl HP:0500147 rdfs:label Hypoglutaminemia Hypoglutaminemia NOT_TRANSLATED -en nl HP:0500147 IAO:0000115 Decreased amount of glutamine in the blood Decreased amount of glutamine in the blood NOT_TRANSLATED -en nl HP:0008629 rdfs:label Pulsatile tinnitus Pulsatiele tinnitus CANDIDATE -en nl HP:0008629 IAO:0000115 Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation NOT_TRANSLATED -en nl HP:0500145 rdfs:label Hypohistidinemia Hypohistidinemia NOT_TRANSLATED -en nl HP:0500145 IAO:0000115 A decreased amount of histidine in the blood A decreased amount of histidine in the blood NOT_TRANSLATED -en nl HP:0008631 rdfs:label Ureteral dysgenesis Ureterale dysgenesie CANDIDATE -en nl HP:0008631 IAO:0000115 A developmental anomaly of the ureter A developmental anomaly of the ureter NOT_TRANSLATED -en nl HP:0500144 rdfs:label Hypoisoleucinemia Hypoisoleucinemia NOT_TRANSLATED -en nl HP:0500144 IAO:0000115 A decreased amount of isoleucine in the blood A decreased amount of isoleucine in the blood NOT_TRANSLATED -en nl HP:0500159 rdfs:label Increased circulating aspartic acid concentration Increased circulating aspartic acid concentration NOT_TRANSLATED -en nl HP:0500159 IAO:0000115 An increased concentration of aspartic acid in the blood circulation An increased concentration of aspartic acid in the blood circulation NOT_TRANSLATED -en nl HP:0008633 rdfs:label Agonadism Afwezig gonadaal weefsel CANDIDATE -en nl HP:0008633 IAO:0000115 Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females) Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females) NOT_TRANSLATED -en nl HP:0500158 rdfs:label Abnormal circulating aspartic acid concentration Abnormal circulating aspartic acid concentration NOT_TRANSLATED -en nl HP:0500158 IAO:0000115 Any deviation from the normal concentration of aspartate in the blood circulation Any deviation from the normal concentration of aspartate in the blood circulation NOT_TRANSLATED -en nl HP:0500157 rdfs:label Hypoasparaginemia Hypoasparaginemia NOT_TRANSLATED -en nl HP:0500157 IAO:0000115 A decreased amount of asparagine in the blood A decreased amount of asparagine in the blood NOT_TRANSLATED -en nl HP:0008635 rdfs:label Hypertrophy of the urinary bladder Hypertrofie van de blaas CANDIDATE -en nl HP:0008635 IAO:0000115 Abnormal enlargement of the urinary bladder Abnormal enlargement of the urinary bladder NOT_TRANSLATED -en nl HP:0500156 rdfs:label Hyperasparaginemia Hyperasparaginemia NOT_TRANSLATED -en nl HP:0500156 IAO:0000115 An increased amount of asparagine in the blood An increased amount of asparagine in the blood NOT_TRANSLATED -en nl HP:0008636 rdfs:label Lobular glomerulopathy Lobulaire glomerulopathie CANDIDATE -en nl HP:0500155 rdfs:label Abnormal circulating asparagine concentration Abnormal circulating asparagine concentration NOT_TRANSLATED -en nl HP:0500155 IAO:0000115 Any deviation from the normal concentration of asparagine in the blood circulation Any deviation from the normal concentration of asparagine in the blood circulation NOT_TRANSLATED -en nl HP:0500154 rdfs:label Hypoalaninemia Hypoalaninemia NOT_TRANSLATED -en nl HP:0500154 IAO:0000115 A decreased amount of alanine in the blood A decreased amount of alanine in the blood NOT_TRANSLATED -en nl HP:0500153 rdfs:label Hyperargininemia Hyperargininemia NOT_TRANSLATED -en nl HP:0500153 IAO:0000115 An increased amount of arginine levels in the blood An increased amount of arginine levels in the blood NOT_TRANSLATED -en nl HP:0008639 rdfs:label Gonadal hypoplasia Gonadale hypoplasie CANDIDATE -en nl HP:0500152 rdfs:label Hypocystinemia Hypocystinemia NOT_TRANSLATED -en nl HP:0500152 IAO:0000115 A decreased amount of cystine in the blood A decreased amount of cystine in the blood NOT_TRANSLATED -en nl HP:0008640 rdfs:label Congenital macroorchidism Congenitaal macroorchidisme CANDIDATE -en nl HP:0500167 rdfs:label Hypergastrinemia Hypergastrinemia NOT_TRANSLATED -en nl HP:0500167 IAO:0000115 An elevated amount of gastrin in the blood An elevated amount of gastrin in the blood NOT_TRANSLATED -en nl HP:0500166 rdfs:label Abnormal circulating gastrin concentration Abnormal circulating gastrin concentration NOT_TRANSLATED -en nl HP:0500166 IAO:0000115 An abnormal concentration of gastrin in the blood An abnormal concentration of gastrin in the blood NOT_TRANSLATED -en nl HP:0500165 rdfs:label Abnormal blood oxygen level Abnormal blood oxygen level NOT_TRANSLATED -en nl HP:0500165 IAO:0000115 An abnormality of the partial pressure of oxygen in the arterial blood An abnormality of the partial pressure of oxygen in the arterial blood NOT_TRANSLATED -en nl HP:0008643 rdfs:label Nephroblastomatosis Nefroblastomatose CANDIDATE -en nl HP:0008643 IAO:0000115 Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood NOT_TRANSLATED -en nl HP:0500164 rdfs:label Abnormal blood carbon dioxide level Abnormal blood carbon dioxide level NOT_TRANSLATED -en nl HP:0500164 IAO:0000115 An abnormality of carbon dioxide (CO2) in the arterial blood An abnormality of carbon dioxide (CO2) in the arterial blood NOT_TRANSLATED -en nl HP:0500163 rdfs:label Hypoornithinemia Hypoornithinemia NOT_TRANSLATED -en nl HP:0500163 IAO:0000115 An abnormal decrease in ornithine in the blood An abnormal decrease in ornithine in the blood NOT_TRANSLATED -en nl HP:0500162 rdfs:label Decreased level of carnosine in blood Decreased level of carnosine in blood NOT_TRANSLATED -en nl HP:0500162 IAO:0000115 A decreased amount of carnosine in bood A decreased amount of carnosine in bood NOT_TRANSLATED -en nl HP:0500161 rdfs:label Increased level of carnosine in blood Increased level of carnosine in blood NOT_TRANSLATED -en nl HP:0500161 IAO:0000115 An increased amount of carnosine in the blood An increased amount of carnosine in the blood NOT_TRANSLATED -en nl HP:0008647 rdfs:label Pubertal developmental failure in females Falen van puberale ontwikkeling in vrouwen CANDIDATE -en nl HP:0500160 rdfs:label Abnormal circulating carnosine concentration Abnormal circulating carnosine concentration NOT_TRANSLATED -en nl HP:0500160 IAO:0000115 Any deviation from the normal concentration of carnosine in the blood circulation Any deviation from the normal concentration of carnosine in the blood circulation NOT_TRANSLATED -en nl HP:0008648 rdfs:label Anteriorly displaced urethral meatus Anterieur misplaatste urethrale meatus CANDIDATE -en nl HP:0500173 rdfs:label Reflex asystolic syncope Reflex asystolic syncope NOT_TRANSLATED -en nl HP:0500173 IAO:0000115 A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure NOT_TRANSLATED -en nl HP:0008651 rdfs:label Uric acid urolithiasis independent of gout Uric acid urolithiasis independent of gout NOT_TRANSLATED -en nl HP:0008652 rdfs:label Autonomic erectile dysfunction Autonome erectiestoornissen CANDIDATE -en nl HP:0008652 IAO:0000115 Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system NOT_TRANSLATED -en nl HP:0008653 rdfs:label Crescentic glomerulonephritis Crescentische glomerulonefritis CANDIDATE -en nl HP:0008653 IAO:0000115 A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation NOT_TRANSLATED -en nl HP:0500170 rdfs:label Abnormal concentration of acylcarnitine in the urine Abnormal concentration of acylcarnitine in the urine NOT_TRANSLATED -en nl HP:0500170 IAO:0000115 An abnormal amount of acylcarnitine in the urine An abnormal amount of acylcarnitine in the urine NOT_TRANSLATED -en nl HP:0008655 rdfs:label Aplasia/Hypoplasia of the fallopian tube Aplasia/Hypoplasie van de eileider CANDIDATE -en nl HP:0008655 IAO:0000115 Aplasia or developmental hypoplasia of the fallopian tube Aplasia or developmental hypoplasia of the fallopian tube NOT_TRANSLATED -en nl HP:0008656 rdfs:label Incomplete male pseudohermaphroditism Onvolledig mannelijk pseudohermafroditisme CANDIDATE -en nl HP:0500183 rdfs:label Abnormal CSF carboxylic acid concentration Abnormal CSF carboxylic acid concentration NOT_TRANSLATED -en nl HP:0500183 IAO:0000115 Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500182 rdfs:label Hypotaurinemia Hypotaurinemia NOT_TRANSLATED -en nl HP:0500182 IAO:0000115 A decreased amount of taurine in the blood A decreased amount of taurine in the blood NOT_TRANSLATED -en nl HP:0500181 rdfs:label Hypertaurinemia Hypertaurinemia NOT_TRANSLATED -en nl HP:0500181 IAO:0000115 An increased amount of taurine in the blood An increased amount of taurine in the blood NOT_TRANSLATED -en nl HP:0008659 rdfs:label Multiple small medullary renal cysts Multipele kleine medullaire niercysten CANDIDATE -en nl HP:0008659 IAO:0000115 The presence of many cysts in the medulla of the kidney The presence of many cysts in the medulla of the kidney NOT_TRANSLATED -en nl HP:0500180 rdfs:label Abnormal circulating amino sulfonic acid concentration Abnormal circulating amino sulfonic acid concentration NOT_TRANSLATED -en nl HP:0008660 rdfs:label Renotubular dysgenesis Renotubulaire dysgenesie CANDIDATE -en nl HP:0008660 IAO:0000115 A developmental defect characterized by absence or poor development of proximal renal tubules A developmental defect characterized by absence or poor development of proximal renal tubules NOT_TRANSLATED -en nl HP:0008661 rdfs:label Urethral stenosis Urethrale stenose CANDIDATE -en nl HP:0008661 IAO:0000115 Abnormal narrowing of the urethra Abnormal narrowing of the urethra NOT_TRANSLATED -en nl HP:0008663 rdfs:label Renal sarcoma Renaal sarcoom CANDIDATE -en nl HP:0008663 IAO:0000115 A sarcoma of the kidney A sarcoma of the kidney NOT_TRANSLATED -en nl HP:0008664 rdfs:label Urethral sphincter sclerosis Urethrale sfincter sclerose CANDIDATE -en nl HP:0500191 rdfs:label Increased CSF leucine concentration Increased CSF leucine concentration NOT_TRANSLATED -en nl HP:0500191 IAO:0000115 Abnormally increased levels of leucine in cerebrospinal fluid Abnormally increased levels of leucine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008665 rdfs:label Clitoral hypertrophy Clitoris hypertrofie CANDIDATE -en nl HP:0008665 IAO:0000115 Hypertrophy of the clitoris Hypertrophy of the clitoris NOT_TRANSLATED -en nl HP:0500190 rdfs:label Decreased CSF leucine concentration Decreased CSF leucine concentration NOT_TRANSLATED -en nl HP:0500190 IAO:0000115 Abnormally decreased levels of leucine in the cerebrospinal fluid Abnormally decreased levels of leucine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008666 rdfs:label Impaired histidine renal tubular absorption Verstoorde renale tubulaire absorptie van histidine CANDIDATE -en nl HP:0500189 rdfs:label Abnormal CSF leucine concentration Abnormal CSF leucine concentration NOT_TRANSLATED -en nl HP:0500189 IAO:0000115 Any deviation from the normal concentration of leucine in the cerebrospinal fluid Any deviation from the normal concentration of leucine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500188 rdfs:label Decreased CSF valine concentration Decreased CSF valine concentration NOT_TRANSLATED -en nl HP:0500188 IAO:0000115 Any decreased amount from normal of valine in the cerebrospinal fluid Any decreased amount from normal of valine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008668 rdfs:label Gonadal dysgenesis, male Gonadale dysgenesie, mannelijk CANDIDATE -en nl HP:0008668 IAO:0000115 Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation NOT_TRANSLATED -en nl HP:0500187 rdfs:label Increased CSF valine concentration Increased CSF valine concentration NOT_TRANSLATED -en nl HP:0500187 IAO:0000115 Any increased amount from normal of valine in the cerebrospinal fluid Any increased amount from normal of valine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008669 rdfs:label Abnormal spermatogenesis Afwijkende spermatogenese CANDIDATE -en nl HP:0008669 IAO:0000115 Incomplete maturation or aberrant formation of the male gametes Incomplete maturation or aberrant formation of the male gametes NOT_TRANSLATED -en nl HP:0500186 rdfs:label Abnormal CSF valine concentration Abnormal CSF valine concentration NOT_TRANSLATED -en nl HP:0500186 IAO:0000115 Any deviation from the normal concentration of valine in the cerebrospinal fluid Any deviation from the normal concentration of valine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008670 rdfs:label Partial vaginal septum Gedeeltelijk vaginaal septum CANDIDATE -en nl HP:0500185 rdfs:label Abnormal CSF branched chain amino acid concentration Abnormal CSF branched chain amino acid concentration NOT_TRANSLATED -en nl HP:0500185 IAO:0000115 Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500184 rdfs:label Abnormal CSF amino acid concentration Abnormal CSF amino acid concentration NOT_TRANSLATED -en nl HP:0500184 IAO:0000115 Any deviation from the normal concentration of amino acids in the cerebrospinal fluid Any deviation from the normal concentration of amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008672 rdfs:label Calcium oxalate nephrolithiasis Calciumoxalaat nefrolithiase CANDIDATE -en nl HP:0008672 IAO:0000115 The presence of calcium- and oxalate-containing calculi (stones) in the kidneys The presence of calcium- and oxalate-containing calculi (stones) in the kidneys NOT_TRANSLATED -en nl HP:0500199 rdfs:label Abnormal CSF glutamate concentration Abnormal CSF glutamate concentration NOT_TRANSLATED -en nl HP:0500199 IAO:0000115 Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500198 rdfs:label Decreased CSF glutamine concentration Decreased CSF glutamine concentration NOT_TRANSLATED -en nl HP:0500198 IAO:0000115 Abnormally decreased levels of glutamine in cerebrospinal fluid Abnormally decreased levels of glutamine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500197 rdfs:label Increased CSF glutamine concentration Increased CSF glutamine concentration NOT_TRANSLATED -en nl HP:0500197 IAO:0000115 Abnormally increased levels of glutamine in cerebrospinal fluid Abnormally increased levels of glutamine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008675 rdfs:label Enlarged polycystic ovaries Vergrote polycysteuze ovaria CANDIDATE -en nl HP:0500196 rdfs:label Abnormal CSF glutamine concentration Abnormal CSF glutamine concentration NOT_TRANSLATED -en nl HP:0500196 IAO:0000115 Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008676 rdfs:label Congenital megaureter Congenitaal megaureter CANDIDATE -en nl HP:0008676 IAO:0000115 A developmental disturbance with extreme ureteral dilatation A developmental disturbance with extreme ureteral dilatation NOT_TRANSLATED -en nl HP:0500195 rdfs:label Abnormal CSF glutamine family amino acid concentration Abnormal CSF glutamine family amino acid concentration NOT_TRANSLATED -en nl HP:0500195 IAO:0000115 Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008677 rdfs:label Congenital nephrotic syndrome Congenitaal nefrotisch syndroom CANDIDATE -en nl HP:0008677 IAO:0000115 Nephrotic syndrome with onset within the first three months of life Nephrotic syndrome with onset within the first three months of life NOT_TRANSLATED -en nl HP:0500194 rdfs:label Decreased CSF isoleucine concentration Decreased CSF isoleucine concentration NOT_TRANSLATED -en nl HP:0500194 IAO:0000115 Abnormally decreased levels of isoleucine in cerebrospinal fluid Abnormally decreased levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008678 rdfs:label Renal hypoplasia/aplasia Renale hypoplasie/aplasie CANDIDATE -en nl HP:0008678 IAO:0000115 Absence or underdevelopment of the kidney Absence or underdevelopment of the kidney NOT_TRANSLATED -en nl HP:0500193 rdfs:label Increased CSF isoleucine concentration Increased CSF isoleucine concentration NOT_TRANSLATED -en nl HP:0500193 IAO:0000115 Abnormally increased levels of isoleucine in cerebrospinal fluid Abnormally increased levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500192 rdfs:label Abnormal CSF isoleucine concentration Abnormal CSF isoleucine concentration NOT_TRANSLATED -en nl HP:0500192 IAO:0000115 Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500207 rdfs:label Decreased CSF lysine concentration Decreased CSF lysine concentration NOT_TRANSLATED -en nl HP:0500207 IAO:0000115 Abnormally decreased levels of lysine in cerebrospinal fluid Abnormally decreased levels of lysine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500206 rdfs:label Abnormal CSF lysine concentration Abnormal CSF lysine concentration NOT_TRANSLATED -en nl HP:0500206 IAO:0000115 Any deviation from the normal concentration of lysine in the cerebrospinal fluid Any deviation from the normal concentration of lysine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008682 rdfs:label Renal tubular epithelial necrosis Acute tubulaire necrose CANDIDATE -en nl HP:0008682 IAO:0000115 Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%) Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%) NOT_TRANSLATED -en nl HP:0500205 rdfs:label Abnormal CSF aspartate family amino acid concentration Abnormal CSF aspartate family amino acid concentration NOT_TRANSLATED -en nl HP:0500205 IAO:0000115 Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008683 rdfs:label Enlarged labia minora Vergrote labia minora CANDIDATE -en nl HP:0008683 IAO:0000115 Increase in size of the folds of skin between the outer labia Increase in size of the folds of skin between the outer labia NOT_TRANSLATED -en nl HP:0500204 rdfs:label Decreased CSF arginine concentration Decreased CSF arginine concentration NOT_TRANSLATED -en nl HP:0500204 IAO:0000115 Abnormally decreased levels of arginine in cerebrospinal fluid Abnormally decreased levels of arginine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008684 rdfs:label Aplasia/hypoplasia of the uterus Aplasia/hypoplasie van de uterus CANDIDATE -en nl HP:0008684 IAO:0000115 Absence or developmental hypoplasia of the uterus Absence or developmental hypoplasia of the uterus NOT_TRANSLATED -en nl HP:0500203 rdfs:label Increased CSF arginine concentration Increased CSF arginine concentration NOT_TRANSLATED -en nl HP:0500203 IAO:0000115 Abnormally increased levels of arginine in cerebrospinal fluid Abnormally increased levels of arginine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500202 rdfs:label Abnormal CSF arginine concentration Abnormal CSF arginine concentration NOT_TRANSLATED -en nl HP:0500202 IAO:0000115 Any deviation from the normal concentration of arginine in the cerebrospinal fluid Any deviation from the normal concentration of arginine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500201 rdfs:label Decreased CSF glutamate concentration Decreased CSF glutamate concentration NOT_TRANSLATED -en nl HP:0500201 IAO:0000115 Abnormally decreased levels of glutamic acid in cerebrospinal fluid Abnormally decreased levels of glutamic acid in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008687 rdfs:label Hypoplasia of the prostate Hypoplasie van de prostaat CANDIDATE -en nl HP:0500200 rdfs:label Increased CSF glutamate concentration Increased CSF glutamate concentration NOT_TRANSLATED -en nl HP:0500200 IAO:0000115 Abnormally increased levels of glutamic acid in cerebrospinal fluid Abnormally increased levels of glutamic acid in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500215 rdfs:label Abnormal CSF phenylalanine concentration Abnormal CSF phenylalanine concentration NOT_TRANSLATED -en nl HP:0500215 IAO:0000115 Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008689 rdfs:label Bilateral cryptorchidism Bilateraal cryptorchisme CANDIDATE -en nl HP:0008689 IAO:0000115 Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum NOT_TRANSLATED -en nl HP:0500214 rdfs:label Abnormal CSF aromatic amino acid concentration Abnormal CSF aromatic amino acid concentration NOT_TRANSLATED -en nl HP:0500214 IAO:0000115 Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500213 rdfs:label Decreased CSF threonine concentration Decreased CSF threonine concentration NOT_TRANSLATED -en nl HP:0500213 IAO:0000115 Abnormally decreased levels of threonine in cerebrospinal fluid Abnormally decreased levels of threonine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008691 rdfs:label Solitary bladder diverticulum Enkele blaas divertikel CANDIDATE -en nl HP:0008691 IAO:0000115 Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder NOT_TRANSLATED -en nl HP:0500212 rdfs:label Increased CSF threonine concentration Increased CSF threonine concentration NOT_TRANSLATED -en nl HP:0500212 IAO:0000115 Abnormally increased levels of threonine in cerebrospinal fluid Abnormally increased levels of threonine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500211 rdfs:label Abnormal CSF threonine concentration Abnormal CSF threonine concentration NOT_TRANSLATED -en nl HP:0500211 IAO:0000115 Any deviation from the normal concentration of threonine in the cerebrospinal fluid Any deviation from the normal concentration of threonine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500210 rdfs:label Increased CSF methionine concentration Increased CSF methionine concentration NOT_TRANSLATED -en nl HP:0500210 IAO:0000115 Abnormally increased levels of methionine in cerebrospinal fluid Abnormally increased levels of methionine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500209 rdfs:label Abnormal CSF methionine concentration Abnormal CSF methionine concentration NOT_TRANSLATED -en nl HP:0500209 IAO:0000115 Any deviation from the normal concentration of methionine in the cerebrospinal fluid Any deviation from the normal concentration of methionine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008695 rdfs:label Transient nephrotic syndrome Voorbijgaand nefrotisch syndroom CANDIDATE -en nl HP:0500208 rdfs:label Increased CSF lysine concentration Increased CSF lysine concentration NOT_TRANSLATED -en nl HP:0500208 IAO:0000115 Abnormally increased levels of lysine in cerebrospinal fluid Abnormally increased levels of lysine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008696 rdfs:label Renal hamartoma Renaal hamartoom CANDIDATE -en nl HP:0008696 IAO:0000115 A disordered proliferation of mature tissues that are native to the kidneys A disordered proliferation of mature tissues that are native to the kidneys NOT_TRANSLATED -en nl HP:0500223 rdfs:label Increased CSF phenylalanine concentration Increased CSF phenylalanine concentration NOT_TRANSLATED -en nl HP:0500223 IAO:0000115 Abnormally increased levels of phenylalanine in cerebrospinal fluid Abnormally increased levels of phenylalanine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008697 rdfs:label Hypoplasia of the fallopian tube Hypoplasie van de eileider CANDIDATE -en nl HP:0008697 IAO:0000115 Developmental hypoplasia of the fallopian tube Developmental hypoplasia of the fallopian tube NOT_TRANSLATED -en nl HP:0500222 rdfs:label Increased CSF tryptophan concentration Increased CSF tryptophan concentration NOT_TRANSLATED -en nl HP:0500222 IAO:0000115 Abnormally increased levels of tryptophan in cerebrospinal fluid Abnormally increased levels of tryptophan in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500221 rdfs:label Decreased CSF tyrosine concentration Decreased CSF tyrosine concentration NOT_TRANSLATED -en nl HP:0500221 IAO:0000115 Abnormally decreased levels of tyrosine in cerebrospinal fluid Abnormally decreased levels of tyrosine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500220 rdfs:label Increased CSF tyrosine concentration Increased CSF tyrosine concentration NOT_TRANSLATED -en nl HP:0500220 IAO:0000115 Abnormally increased levels of tyrosine in cerebrospinal fluid Abnormally increased levels of tyrosine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500219 rdfs:label Abnormal CSF tyrosine concentration Abnormal CSF tyrosine concentration NOT_TRANSLATED -en nl HP:0500219 IAO:0000115 Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500218 rdfs:label Abnormal CSF tryptophan concentration Abnormal CSF tryptophan concentration NOT_TRANSLATED -en nl HP:0500218 IAO:0000115 Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008702 rdfs:label Absent internal genitalia Afwezige interne genitaliën CANDIDATE -en nl HP:0500217 rdfs:label Increased CSF aspartate concentration Increased CSF aspartate concentration NOT_TRANSLATED -en nl HP:0500217 IAO:0000115 Abnormally increased levels of aspartic acid in cerebrospinal fluid Abnormally increased levels of aspartic acid in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008703 rdfs:label Gonadal calcification Gonadale calcificatie CANDIDATE -en nl HP:0008703 IAO:0000115 Deposition of calcium salts in gonadal tissue Deposition of calcium salts in gonadal tissue NOT_TRANSLATED -en nl HP:0500216 rdfs:label Abnormal CSF aspartate concentration Abnormal CSF aspartate concentration NOT_TRANSLATED -en nl HP:0500216 IAO:0000115 Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500231 rdfs:label Abnormal CSF pyruvate family amino acid concentration Abnormal CSF pyruvate family amino acid concentration NOT_TRANSLATED -en nl HP:0500231 IAO:0000115 Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008705 rdfs:label Ureteral triplication Ureterale triplicatie CANDIDATE -en nl HP:0500230 rdfs:label Increased CSF glycine concentration Increased CSF glycine concentration NOT_TRANSLATED -en nl HP:0500230 IAO:0000115 Abnormally increased levels of glycine in cerebrospinal fluid Abnormally increased levels of glycine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008706 rdfs:label Distal urethral duplication Distale urethrale duplicatie CANDIDATE -en nl HP:0500229 rdfs:label Abnormal CSF glycine concentration Abnormal CSF glycine concentration NOT_TRANSLATED -en nl HP:0500229 IAO:0000115 Any deviation from the normal concentration of glycine in the cerebrospinal fluid Any deviation from the normal concentration of glycine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008707 rdfs:label Absent scrotum Afwezig scrotum CANDIDATE -en nl HP:0008707 IAO:0000115 Congenital absence of the scrotum Congenital absence of the scrotum NOT_TRANSLATED -en nl HP:0500228 rdfs:label Decreased CSF serine concentration Decreased CSF serine concentration NOT_TRANSLATED -en nl HP:0500228 IAO:0000115 Abnormally decreased levels of serine in cerebrospinal fluid Abnormally decreased levels of serine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008708 rdfs:label Partial development of the penile shaft Partiële ontwikkeling van de schaft van de penis CANDIDATE -en nl HP:0500227 rdfs:label Increased CSF serine concentration Increased CSF serine concentration NOT_TRANSLATED -en nl HP:0500227 IAO:0000115 Abnormally increased levels of serine in cerebrospinal fluid Abnormally increased levels of serine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500226 rdfs:label Abnormal CSF serine concentration Abnormal CSF serine concentration NOT_TRANSLATED -en nl HP:0500226 IAO:0000115 Any deviation from the normal concentration of serine in the cerebrospinal fluid Any deviation from the normal concentration of serine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500225 rdfs:label Abnormal CSF serine family amino acid concentration Abnormal CSF serine family amino acid concentration NOT_TRANSLATED -en nl HP:0500225 IAO:0000115 Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008711 rdfs:label Benign prostatic hyperplasia Benigne prostaat hyperplasia CANDIDATE -en nl HP:0008711 IAO:0000115 The presence of non-malignant hyperplasia of the prostate The presence of non-malignant hyperplasia of the prostate NOT_TRANSLATED -en nl HP:0500224 rdfs:label Decreased CSF phenylalanine concentration Decreased CSF phenylalanine concentration NOT_TRANSLATED -en nl HP:0500224 IAO:0000115 Abnormally decreased levels of phenylalanine in cerebrospinal fluid Abnormally decreased levels of phenylalanine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500239 rdfs:label Increased CSF albumin concentration Increased CSF albumin concentration NOT_TRANSLATED -en nl HP:0500238 rdfs:label Abnormal CSF albumin concentration Abnormal CSF albumin concentration NOT_TRANSLATED -en nl HP:0500238 IAO:0000115 Any deviation from the normal concentration of albumin in the cerebrospinal fluid Any deviation from the normal concentration of albumin in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008714 rdfs:label Ureterovesical stenosis Ureterovesicale stenose CANDIDATE -en nl HP:0500237 rdfs:label Decreased CSF histidine concentration Decreased CSF histidine concentration NOT_TRANSLATED -en nl HP:0500237 IAO:0000115 Abnormally decreased levels of histidine in cerebrospinal fluid Abnormally decreased levels of histidine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008715 rdfs:label Testicular dysgenesis Testiculaire dysgenesie CANDIDATE -en nl HP:0500236 rdfs:label Increased CSF histidine concentration Increased CSF histidine concentration NOT_TRANSLATED -en nl HP:0500236 IAO:0000115 Abnormally increased levels of histidine in cerebrospinal fluid Abnormally increased levels of histidine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008716 rdfs:label Urethrovaginal fistula Urethrovaginale fistel CANDIDATE -en nl HP:0008716 IAO:0000115 The presence of a fistula between the vagina and the urethra The presence of a fistula between the vagina and the urethra NOT_TRANSLATED -en nl HP:0500235 rdfs:label Abnormal CSF histidine concentration Abnormal CSF histidine concentration NOT_TRANSLATED -en nl HP:0500235 IAO:0000115 Any deviation from the normal concentration of histidine in the cerebrospinal fluid Any deviation from the normal concentration of histidine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008717 rdfs:label Unilateral renal atrophy Unilaterale renale atrofie CANDIDATE -en nl HP:0008717 IAO:0000115 A unilateral form of atrophy of the kidney A unilateral form of atrophy of the kidney NOT_TRANSLATED -en nl HP:0500234 rdfs:label Decreased CSF alanine concentration Decreased CSF alanine concentration NOT_TRANSLATED -en nl HP:0500234 IAO:0000115 Abnormally decreased levels of alanine in cerebrospinal fluid Abnormally decreased levels of alanine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008718 rdfs:label Unilateral renal dysplasia Unilaterale renale dysplasie CANDIDATE -en nl HP:0008718 IAO:0000115 A unilateral form of developmental dysplasia of the kidney A unilateral form of developmental dysplasia of the kidney NOT_TRANSLATED -en nl HP:0500233 rdfs:label Increased CSF alanine concentration Increased CSF alanine concentration NOT_TRANSLATED -en nl HP:0500233 IAO:0000115 Abnormally increased levels of alanine in cerebrospinal fluid Abnormally increased levels of alanine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500232 rdfs:label Abnormal CSF alanine concentration Abnormal CSF alanine concentration NOT_TRANSLATED -en nl HP:0500232 IAO:0000115 Any deviation from the normal concentration of alanine in the cerebrospinal fluid Any deviation from the normal concentration of alanine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008720 rdfs:label Primary testicular failure Primair testiculair falen CANDIDATE -en nl HP:0500247 rdfs:label Abnormal CSF alpha-aminobutyrate concentration Abnormal CSF alpha-aminobutyrate concentration NOT_TRANSLATED -en nl HP:0500247 IAO:0000115 Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500246 rdfs:label Increased CSF citrulline concentration Increased CSF citrulline concentration NOT_TRANSLATED -en nl HP:0500246 IAO:0000115 Abnormally increased levels of citrulline in cerebrospinal fluid Abnormally increased levels of citrulline in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008722 rdfs:label Urethral diverticulum Urethra divertikel CANDIDATE -en nl HP:0008722 IAO:0000115 The presence of a diverticulum (sac or pouch) in the wall of the urethra The presence of a diverticulum (sac or pouch) in the wall of the urethra NOT_TRANSLATED -en nl HP:0500245 rdfs:label Abnormal CSF citrulline concentration Abnormal CSF citrulline concentration NOT_TRANSLATED -en nl HP:0500245 IAO:0000115 Any deviation from the normal concentration of citrulline in the cerebrospinal fluid Any deviation from the normal concentration of citrulline in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008723 rdfs:label Gonadal dysgenesis with female appearance, male Gonadale dysgenesie met vrouwelijk uiterlijk, mannelijk CANDIDATE -en nl HP:0008723 IAO:0000115 Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation NOT_TRANSLATED -en nl HP:0500244 rdfs:label Increased CSF ornithine concentration Increased CSF ornithine concentration NOT_TRANSLATED -en nl HP:0500244 IAO:0000115 Abnormally increased levels of ornithine in cerebrospinal fluid Abnormally increased levels of ornithine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008724 rdfs:label Hypoplasia of the ovary Hypoplasie van het ovarium CANDIDATE -en nl HP:0008724 IAO:0000115 Developmental hypoplasia of the ovary Developmental hypoplasia of the ovary NOT_TRANSLATED -en nl HP:0500243 rdfs:label Abnormal CSF ornithine concentration Abnormal CSF ornithine concentration NOT_TRANSLATED -en nl HP:0500243 IAO:0000115 Any deviation from the normal concentration of ornithine in the cerebrospinal fluid Any deviation from the normal concentration of ornithine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500242 rdfs:label Increased CSF homocarnosine concentration Increased CSF homocarnosine concentration NOT_TRANSLATED -en nl HP:0500242 IAO:0000115 Abnormally increased levels of homocarnosine in cerebrospinal fluid Abnormally increased levels of homocarnosine in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008726 rdfs:label Hypoplasia of the vagina Hypoplasie van de vagina CANDIDATE -en nl HP:0008726 IAO:0000115 Developmental hypoplasia of the vagina Developmental hypoplasia of the vagina NOT_TRANSLATED -en nl HP:0500241 rdfs:label Abnormal CSF homocarnosine concentration Abnormal CSF homocarnosine concentration NOT_TRANSLATED -en nl HP:0500241 IAO:0000115 Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500240 rdfs:label Abnormal CSF carnosine concentration Abnormal CSF carnosine concentration NOT_TRANSLATED -en nl HP:0500240 IAO:0000115 Any deviation from the normal concentration of carnosine in the cerebrospinal fluid Any deviation from the normal concentration of carnosine in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0500255 rdfs:label Increased level of hexanoylglycine in urine Increased level of hexanoylglycine in urine NOT_TRANSLATED -en nl HP:0500255 IAO:0000115 Elevated concentration of hexanoylglycine in the urine Elevated concentration of hexanoylglycine in the urine NOT_TRANSLATED -en nl HP:0008729 rdfs:label Absence of labia majora Afwezige labia majora CANDIDATE -en nl HP:0500254 rdfs:label Abnormal urine hexanoylglycine concentration Abnormal urine hexanoylglycine concentration NOT_TRANSLATED -en nl HP:0500254 IAO:0000115 Abnormal concentration of hexanoylglycine in the urine Abnormal concentration of hexanoylglycine in the urine NOT_TRANSLATED -en nl HP:0008730 rdfs:label Female external genitalia in individual with 46,XY karyotype Vrouwelijke externe genitaliën in individue met 46,XY karyotype CANDIDATE -en nl HP:0008730 IAO:0000115 The presence of female external genitalia in a person with a male karyotype The presence of female external genitalia in a person with a male karyotype NOT_TRANSLATED -en nl HP:0500253 rdfs:label Increased level of gamma-aminobutyric acid in urine Increased level of gamma-aminobutyric acid in urine NOT_TRANSLATED -en nl HP:0500253 IAO:0000115 Elevated concentration of gamma-aminobutyric acid in the urine Elevated concentration of gamma-aminobutyric acid in the urine NOT_TRANSLATED -en nl HP:0500252 rdfs:label Increased urine sebacic acid concentration Increased urine sebacic acid concentration NOT_TRANSLATED -en nl HP:0500252 IAO:0000115 Elevated concentration of sebacic acid in the urine Elevated concentration of sebacic acid in the urine NOT_TRANSLATED -en nl HP:0008732 rdfs:label Renal hypophosphatemia Renale hypofosfatemie CANDIDATE -en nl HP:0008732 IAO:0000115 Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion NOT_TRANSLATED -en nl HP:0500251 rdfs:label Abnormal urine sebacic acid concentration Abnormal urine sebacic acid concentration NOT_TRANSLATED -en nl HP:0500251 IAO:0000115 Abnormal concentration of sebacic acid in the urine Abnormal concentration of sebacic acid in the urine NOT_TRANSLATED -en nl HP:0008733 rdfs:label Dysplastic testes Dysplastische testes CANDIDATE -en nl HP:0500250 rdfs:label Increased circulating ethanolamine concentration Increased circulating ethanolamine concentration NOT_TRANSLATED -en nl HP:0500250 IAO:0000115 Abnormally increased levels of ethanolamine in circulation Abnormally increased levels of ethanolamine in circulation NOT_TRANSLATED -en nl HP:0008734 rdfs:label Decreased testicular size Verminderde testis grootte CANDIDATE -en nl HP:0008734 IAO:0000115 Reduced volume of the testicle (the male gonad) Reduced volume of the testicle (the male gonad) NOT_TRANSLATED -en nl HP:0500249 rdfs:label Abnormal circulating ethanolamine concentration Abnormal circulating ethanolamine concentration NOT_TRANSLATED -en nl HP:0500249 IAO:0000115 Any deviation from the normal concentration of ethanolamine in circulation Any deviation from the normal concentration of ethanolamine in circulation NOT_TRANSLATED -en nl HP:0500248 rdfs:label Increased CSF alpha-aminobutyrate concentration Increased CSF alpha-aminobutyrate concentration NOT_TRANSLATED -en nl HP:0500248 IAO:0000115 Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0008736 rdfs:label Hypoplasia of penis Hypoplasie van penis CANDIDATE -en nl HP:0500263 rdfs:label Abnormal helper T cell proportion Abnormal helper T cell proportion NOT_TRANSLATED -en nl HP:0500263 IAO:0000115 Abnormal proportion of helper T cells relative to the total number of T cells Abnormal proportion of helper T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0500262 rdfs:label Atrichia Atrichia NOT_TRANSLATED -en nl HP:0500262 IAO:0000115 The most dramatic and severe form of hair loss characterized by an absence of hair follicles The most dramatic and severe form of hair loss characterized by an absence of hair follicles NOT_TRANSLATED -en nl HP:0008738 rdfs:label Partially duplicated kidney Partieel gedupliceerde nier CANDIDATE -en nl HP:0008738 IAO:0000115 The presence of a partially duplicated kidney The presence of a partially duplicated kidney NOT_TRANSLATED -en nl HP:0500261 rdfs:label Triggered by anesthetics Triggered by anesthetics NOT_TRANSLATED -en nl HP:0500261 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics NOT_TRANSLATED -en nl HP:0008739 rdfs:label Labial pseudohypertrophy Labiale pseudohypertrofie CANDIDATE -en nl HP:0500260 rdfs:label Triggered by head trauma Triggered by head trauma NOT_TRANSLATED -en nl HP:0500260 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma NOT_TRANSLATED -en nl HP:0008740 rdfs:label Longitudinal vaginal septum Longitudinaal vaginaal septum CANDIDATE -en nl HP:0008740 IAO:0000115 The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication NOT_TRANSLATED -en nl HP:0500259 rdfs:label Abnormal oxygen level in cord blood Abnormal oxygen level in cord blood NOT_TRANSLATED -en nl HP:0500259 IAO:0000115 An abnormal level of blood oxygen in the cord blood An abnormal level of blood oxygen in the cord blood NOT_TRANSLATED -en nl HP:0500258 rdfs:label Abnormal carbon dioxide level in cord blood Abnormal carbon dioxide level in cord blood NOT_TRANSLATED -en nl HP:0500258 IAO:0000115 Abnormal amount of carbon dioxide in umbilical cord blood Abnormal amount of carbon dioxide in umbilical cord blood NOT_TRANSLATED -en nl HP:0008742 rdfs:label Prominent prostate median bar Prominent prostate median bar NOT_TRANSLATED -en nl HP:0500257 rdfs:label Increased urine isobutyrylglycine concentration Increased urine isobutyrylglycine concentration NOT_TRANSLATED -en nl HP:0500257 IAO:0000115 Elevated concentration of isobutyrylglycine in the urine Elevated concentration of isobutyrylglycine in the urine NOT_TRANSLATED -en nl HP:0008743 rdfs:label Coronal hypospadias Coronale hypospadieën CANDIDATE -en nl HP:0008743 IAO:0000115 A mild form of hypospadias in which the urethra opens just under the corona glandis A mild form of hypospadias in which the urethra opens just under the corona glandis NOT_TRANSLATED -en nl HP:0500256 rdfs:label Abnormal urine isobutyrylglycine concentration Abnormal urine isobutyrylglycine concentration NOT_TRANSLATED -en nl HP:0500256 IAO:0000115 Abnormal concentration of isobutyrylglycine in the urine Abnormal concentration of isobutyrylglycine in the urine NOT_TRANSLATED -en nl HP:0008744 rdfs:label Abnormal aryepiglottic fold morphology Afwijking van de aryepiglottische plooi CANDIDATE -en nl HP:0008744 IAO:0000115 An abnormality of the aryepiglottic fold An abnormality of the aryepiglottic fold NOT_TRANSLATED -en nl HP:0500271 rdfs:label Decreased proportion of gamma-delta T cells Decreased proportion of gamma-delta T cells NOT_TRANSLATED -en nl HP:0500271 IAO:0000115 Decreased proportion of gamma-delta T cells relative to the total number of T cells Decreased proportion of gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0500270 rdfs:label Increased proportion of gamma-delta T cells Increased proportion of gamma-delta T cells NOT_TRANSLATED -en nl HP:0500270 IAO:0000115 Increased proportion of gamma-delta T cells relative to the total number of T cells Increased proportion of gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0500269 rdfs:label Abnormal proportion of gamma-delta T cells Abnormal proportion of gamma-delta T cells NOT_TRANSLATED -en nl HP:0500269 IAO:0000115 Abnormal proportion of gamma-delta T cells relative to the total number of T cells Abnormal proportion of gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0008747 rdfs:label Cartilaginous ossification of larynx Kraakbeenachtige ossificatie van larynx CANDIDATE -en nl HP:0008747 IAO:0000115 Ossification affecting the set of cartilages of larynx Ossification affecting the set of cartilages of larynx NOT_TRANSLATED -en nl HP:0500267 rdfs:label Abnormal proportion of CD4-positive helper T cells Abnormal proportion of CD4-positive helper T cells NOT_TRANSLATED -en nl HP:0500267 IAO:0000115 An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count NOT_TRANSLATED -en nl HP:0008749 rdfs:label Laryngeal hypoplasia Laryngeale hypoplasie CANDIDATE -en nl HP:0008749 IAO:0000115 Underdevelopment of the larynx Underdevelopment of the larynx NOT_TRANSLATED -en nl HP:0500266 rdfs:label Decreased proportion of CD8-positive, alpha-beta TEMRA T cells Decreased proportion of CD8-positive, alpha-beta TEMRA T cells NOT_TRANSLATED -en nl HP:0500266 IAO:0000115 An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative NOT_TRANSLATED -en nl HP:0008750 rdfs:label Laryngeal atresia Laryngeale atresie CANDIDATE -en nl HP:0008750 IAO:0000115 Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present NOT_TRANSLATED -en nl HP:0500265 rdfs:label Increased proportion of CD8-positive, alpha-beta TEMRA T cells Increased proportion of CD8-positive, alpha-beta TEMRA T cells NOT_TRANSLATED -en nl HP:0500265 IAO:0000115 An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative NOT_TRANSLATED -en nl HP:0008751 rdfs:label Laryngeal cleft Laryngeale schisis CANDIDATE -en nl HP:0008751 IAO:0000115 Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus NOT_TRANSLATED -en nl HP:0500264 rdfs:label Increased helper T cell proportion Increased helper T cell proportion NOT_TRANSLATED -en nl HP:0500264 IAO:0000115 Increased proportion of helper T cells relative to the total number of T cells Increased proportion of helper T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0008752 rdfs:label Laryngeal cartilage malformation Laryngeaal kraakbeen malformatie CANDIDATE -en nl HP:0008752 IAO:0000115 A malformation of the laryngeal cartilage A malformation of the laryngeal cartilage NOT_TRANSLATED -en nl HP:0008753 rdfs:label Aplasia of the epiglottis Aplasie van de epiglottis CANDIDATE -en nl HP:0008753 IAO:0000115 Absence of the epiglottis Absence of the epiglottis NOT_TRANSLATED -en nl HP:0008754 rdfs:label Laryngeal calcification Laryngeale calcificatie CANDIDATE -en nl HP:0008754 IAO:0000115 Calcification (abnormal deposits of calcium) in the laryngeal tissues Calcification (abnormal deposits of calcium) in the laryngeal tissues NOT_TRANSLATED -en nl HP:0008755 rdfs:label Laryngotracheomalacia Laryngotracheomalacie CANDIDATE -en nl HP:0008756 rdfs:label Bowing of the vocal cords Bowing van de stembanden CANDIDATE -en nl HP:0008756 IAO:0000115 Bowing (abnormal curvature) of the vocal folds Bowing (abnormal curvature) of the vocal folds NOT_TRANSLATED -en nl HP:0008757 rdfs:label Unilateral vocal cord paralysis Unilaterale stembandverlamming CANDIDATE -en nl HP:0008757 IAO:0000115 A loss of the ability to move the vocal fold on one side A loss of the ability to move the vocal fold on one side NOT_TRANSLATED -en nl HP:0500274 rdfs:label Decreased proportion of immature gamma-delta T cells Decreased proportion of immature gamma-delta T cells NOT_TRANSLATED -en nl HP:0500274 IAO:0000115 Decreased proportion of immature gamma-delta T cells relative to the total number of T cells Decreased proportion of immature gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0500273 rdfs:label Increased proportion of immature gamma-delta T cells Increased proportion of immature gamma-delta T cells NOT_TRANSLATED -en nl HP:0500273 IAO:0000115 Increased proportion of immature gamma-delta T cells relative to the total number of T cells Increased proportion of immature gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0500272 rdfs:label Abnormal proportion of immature gamma-delta T cells Abnormal proportion of immature gamma-delta T cells NOT_TRANSLATED -en nl HP:0500272 IAO:0000115 Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0008760 rdfs:label Violent behavior Gewelddadig gedrag CANDIDATE -en nl HP:0008762 rdfs:label Repetitive compulsive behavior Repetitief compulsief gedrag CANDIDATE -en nl HP:0008763 rdfs:label No social interaction Geen sociale interactie CANDIDATE -en nl HP:0008765 rdfs:label Auditory hallucinations Auditieve hallucinaties CANDIDATE -en nl HP:0008765 IAO:0000115 The false perception of sound The false perception of sound NOT_TRANSLATED -en nl HP:0008767 rdfs:label Self-mutilation of tongue and lips due to involuntary movements Auto-mutilatie van tong en lippen vanwege onvrijwillige bewegingen CANDIDATE -en nl HP:0008768 rdfs:label Inappropriate sexual behavior Ongepast seksueelgedrag CANDIDATE -en nl HP:0008770 rdfs:label Obsessive-compulsive trait Obsessief-compulsief karaktertrek CANDIDATE -en nl HP:0008770 IAO:0000115 The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant NOT_TRANSLATED -en nl HP:0008771 rdfs:label Aplasia/Hypoplasia of the ear Aplasia/Hypoplasie van het oor CANDIDATE -en nl HP:0008771 IAO:0000115 The presence of aplasia or developmental hypoplasia of the ear The presence of aplasia or developmental hypoplasia of the ear NOT_TRANSLATED -en nl HP:0008772 rdfs:label Aplasia/Hypoplasia of the external ear Aplasia/Hypoplasie van de externe gehoorgang CANDIDATE -en nl HP:0008772 IAO:0000115 The presence of aplasia or developmental hypoplasia of all or part of the external ear The presence of aplasia or developmental hypoplasia of all or part of the external ear NOT_TRANSLATED -en nl HP:0008773 rdfs:label Aplasia/Hypoplasia of the middle ear Aplasia/Hypoplasie van het middenoor CANDIDATE -en nl HP:0008773 IAO:0000115 Aplasia or developmental hypoplasia of all or part of the middle ear Aplasia or developmental hypoplasia of all or part of the middle ear NOT_TRANSLATED -en nl HP:0008774 rdfs:label Aplasia/Hypoplasia of the inner ear Aplasia/Hypoplasie van het binnenoor CANDIDATE -en nl HP:0008774 IAO:0000115 Aplasia or developmental hypoplasia of the inner ear Aplasia or developmental hypoplasia of the inner ear NOT_TRANSLATED -en nl HP:0008775 rdfs:label Abnormal prostate morphology Afwijking van de prostaat CANDIDATE -en nl HP:0008775 IAO:0000115 An abnormality of the prostate An abnormality of the prostate NOT_TRANSLATED -en nl HP:0008776 rdfs:label Abnormal renal artery morphology Afwijkende arteria renalis morfologie CANDIDATE -en nl HP:0008776 IAO:0000115 Any structural abnormality of the renal artery Any structural abnormality of the renal artery NOT_TRANSLATED -en nl HP:0008777 rdfs:label Abnormal vocal cord morphology Afwijking van de stembanden CANDIDATE -en nl HP:0008777 IAO:0000115 An abnormality of the vocal cord An abnormality of the vocal cord NOT_TRANSLATED -en nl HP:0008780 rdfs:label Congenital bilateral hip dislocation Congenitale bilaterale hip dislocatie CANDIDATE -en nl HP:0008783 rdfs:label Wide proximal femoral metaphysis Wijde proximale metafyse van femur CANDIDATE -en nl HP:0008783 IAO:0000115 Increased width of the proximal part of the shaft (metaphysis) of the femur Increased width of the proximal part of the shaft (metaphysis) of the femur NOT_TRANSLATED -en nl HP:0008784 rdfs:label Wide capital femoral epiphyses Wijde epifysen van de femurkop CANDIDATE -en nl HP:0008784 IAO:0000115 Abnormally wide morphology of the proximal epiphysis of the femur Abnormally wide morphology of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0008785 rdfs:label Delayed ossification of pubic rami Vertraagde ossificatie van ramus pubis CANDIDATE -en nl HP:0008785 IAO:0000115 Delayed maturation and calcification of the rami (branches) of the pubic bone Delayed maturation and calcification of the rami (branches) of the pubic bone NOT_TRANSLATED -en nl HP:0008786 rdfs:label Iliac crest serration Crista iliaca serratie CANDIDATE -en nl HP:0008786 IAO:0000115 Irregularities of the iliac crest that produce the appearance of a lace border around it Irregularities of the iliac crest that produce the appearance of a lace border around it NOT_TRANSLATED -en nl HP:0008788 rdfs:label Delayed pubic bone ossification Vertraagde ossificatie os pubis CANDIDATE -en nl HP:0008788 IAO:0000115 Delayed maturation and calcification of the pubic bone Delayed maturation and calcification of the pubic bone NOT_TRANSLATED -en nl HP:0008789 rdfs:label Cone-shaped capital femoral epiphysis Kegel-vormige epifyse van de femurkop CANDIDATE -en nl HP:0008789 IAO:0000115 A cone-shaped deformity of the proximal epiphysis of the femur A cone-shaped deformity of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0008794 rdfs:label Dysplastic iliac wing Dysplastische alae ossis ilium CANDIDATE -en nl HP:0008794 IAO:0000115 A general term that describes a congenital defect in the iliac wing resulting from abnormal development A general term that describes a congenital defect in the iliac wing resulting from abnormal development NOT_TRANSLATED -en nl HP:0008796 rdfs:label Femoral retroversion Extern gedraaide heupen CANDIDATE -en nl HP:0008796 IAO:0000115 An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing) An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing) NOT_TRANSLATED -en nl HP:0008797 rdfs:label Early ossification of capital femoral epiphyses Vroege ossificatie van proximale epifysen van femurkop CANDIDATE -en nl HP:0008797 IAO:0000115 Developmental acceleration of ossification of the proximal epiphysis of the femur Developmental acceleration of ossification of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0008798 rdfs:label Widened greater sciatic notch Verbrede incisura ischiadica CANDIDATE -en nl HP:0008798 IAO:0000115 The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch NOT_TRANSLATED -en nl HP:0008800 rdfs:label Limited hip movement Beperkte heup beweging CANDIDATE -en nl HP:0008800 IAO:0000115 A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip NOT_TRANSLATED -en nl HP:0008801 rdfs:label Hypoplasia of the lesser trochanter Hyperplasie van de trochanter minor CANDIDATE -en nl HP:0008801 IAO:0000115 Underdevelopment of the lesser trochanter Underdevelopment of the lesser trochanter NOT_TRANSLATED -en nl HP:0008802 rdfs:label Hypoplasia of the femoral head Hypoplasie van de femurkop CANDIDATE -en nl HP:0008802 IAO:0000115 Underdevelopment of the femoral head Underdevelopment of the femoral head NOT_TRANSLATED -en nl HP:0008804 rdfs:label Broad femoral head Brede femurkop CANDIDATE -en nl HP:0008804 IAO:0000115 Increased width of the femoral head Increased width of the femoral head NOT_TRANSLATED -en nl HP:0008807 rdfs:label Acetabular dysplasia Acetabulaire dysplasie CANDIDATE -en nl HP:0008807 IAO:0000115 A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain NOT_TRANSLATED -en nl HP:0008808 rdfs:label High iliac wing Hoge alae ossis ilium CANDIDATE -en nl HP:0008808 IAO:0000115 Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) NOT_TRANSLATED -en nl HP:0008812 rdfs:label Flattened femoral head Afgevlakte femurkop CANDIDATE -en nl HP:0008812 IAO:0000115 An abnormally flattened femoral head An abnormally flattened femoral head NOT_TRANSLATED -en nl HP:0008817 rdfs:label Aplastic pubic bones Aplastisch os pubis CANDIDATE -en nl HP:0008818 rdfs:label Large iliac wing Grote alae ossis ilium CANDIDATE -en nl HP:0008818 IAO:0000115 Increased size of the ilium ala Increased size of the ilium ala NOT_TRANSLATED -en nl HP:0008819 rdfs:label Narrow femoral neck Small collum CANDIDATE -en nl HP:0008819 IAO:0000115 An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED -en nl HP:0008820 rdfs:label Absent ossification of capital femoral epiphysis Afwezige ossificatie van proximale epifyse van femurkop CANDIDATE -en nl HP:0008820 IAO:0000115 Lack of ossification of the proximal epiphysis of the femur Lack of ossification of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0008821 rdfs:label Hypoplastic inferior ilia Hypoplastic inferior ilia NOT_TRANSLATED -en nl HP:0008822 rdfs:label Hypoplastic ischiopubic rami Hypoplastisch ramus ischiopubicus CANDIDATE -en nl HP:0008822 IAO:0000115 Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium NOT_TRANSLATED -en nl HP:0008823 rdfs:label Hypoplastic inferior pubic rami Hypoplastisch ramus inferior ossis pubis CANDIDATE -en nl HP:0008824 rdfs:label Hypoplastic iliac body Hypoplastic iliac body NOT_TRANSLATED -en nl HP:0008824 IAO:0000115 Underdevelopment of the body of ilium Underdevelopment of the body of ilium NOT_TRANSLATED -en nl HP:0008826 rdfs:label Dislocation of the femoral head Dislocatie femurkop CANDIDATE -en nl HP:0008826 IAO:0000115 Joint dislocation of the femoral head Joint dislocation of the femoral head NOT_TRANSLATED -en nl HP:0008828 rdfs:label Delayed proximal femoral epiphyseal ossification Vertraagde ossificatie van proximale epifyse van femur CANDIDATE -en nl HP:0008828 IAO:0000115 Developmental delay of ossification of the proximal epiphysis of the femur Developmental delay of ossification of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0008829 rdfs:label Delayed femoral head ossification Vertraagde femurkop ossificatie CANDIDATE -en nl HP:0008829 IAO:0000115 Delayed ossification of the femoral head Delayed ossification of the femoral head NOT_TRANSLATED -en nl HP:0008830 rdfs:label Hypoplastic pubic rami Hypoplastisch ramus ossis pubis CANDIDATE -en nl HP:0008833 rdfs:label Irregular acetabular roof Irregulair acetabulair dak CANDIDATE -en nl HP:0008835 rdfs:label Multicentric femoral head ossification Multicentrische femurkop ossificatie CANDIDATE -en nl HP:0008835 IAO:0000115 There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers NOT_TRANSLATED -en nl HP:0008838 rdfs:label Stippled calcification proximal humeral epiphyses Gespikkelde verkalking van de proximale epifysen van de humerus CANDIDATE -en nl HP:0008839 rdfs:label Hypoplastic pelvis Hypoplastisch bekken CANDIDATE -en nl HP:0008839 IAO:0000115 Underdevelopment of the bony pelvis Underdevelopment of the bony pelvis NOT_TRANSLATED -en nl HP:0008843 rdfs:label Hip osteoarthritis Heup osteoartritis CANDIDATE -en nl HP:0008845 rdfs:label Mesomelic short stature Mesomelische kleine lengte CANDIDATE -en nl HP:0008845 IAO:0000115 A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg) A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg) NOT_TRANSLATED -en nl HP:0008846 rdfs:label Severe intrauterine growth retardation Ernstige intra-uteriene groeiretardatie CANDIDATE -en nl HP:0008846 IAO:0000115 Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age NOT_TRANSLATED -en nl HP:0008848 rdfs:label Moderately short stature Matig kleine lengte CANDIDATE -en nl HP:0008848 IAO:0000115 A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex NOT_TRANSLATED -en nl HP:0008850 rdfs:label Severe postnatal growth retardation Ernstige postnatale groeiretardatie CANDIDATE -en nl HP:0008850 IAO:0000115 Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms NOT_TRANSLATED -en nl HP:0008855 rdfs:label Moderate postnatal growth retardation Matige postnatale groeiretardatie CANDIDATE -en nl HP:0008855 IAO:0000115 A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms NOT_TRANSLATED -en nl HP:0008857 rdfs:label Neonatal short-trunk short stature Neonatale korte-romp kleine lengte CANDIDATE -en nl HP:0008857 IAO:0000115 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth NOT_TRANSLATED -en nl HP:0008866 rdfs:label Failure to thrive secondary to recurrent infections Failure to thrive secundair aan recidiverende infecties CANDIDATE -en nl HP:0008866 IAO:0000115 Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections NOT_TRANSLATED -en nl HP:0008872 rdfs:label Feeding difficulties in infancy Voedingsproblemen in de kindertijd CANDIDATE -en nl HP:0008872 IAO:0000115 Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention NOT_TRANSLATED -en nl HP:0008873 rdfs:label Disproportionate short-limb short stature Disproportionele korte-ledemaat kleine lengte CANDIDATE -en nl HP:0008873 IAO:0000115 A type of disproportionate short stature characterized by a short limbs but an average-sized trunk A type of disproportionate short stature characterized by a short limbs but an average-sized trunk NOT_TRANSLATED -en nl HP:0008883 rdfs:label Mild intrauterine growth retardation Milde intra-uteriene groeiretardatie CANDIDATE -en nl HP:0008883 IAO:0000115 Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age NOT_TRANSLATED -en nl HP:0008887 rdfs:label Adipose tissue loss Vetweefsel verlies CANDIDATE -en nl HP:0008887 IAO:0000115 A loss of adipose tissue A loss of adipose tissue NOT_TRANSLATED -en nl HP:0008890 rdfs:label Severe short-limb dwarfism Ernstige korte-ledemaat dwerggroei CANDIDATE -en nl HP:0008897 rdfs:label Postnatal growth retardation Postnatale groeiretardatie CANDIDATE -en nl HP:0008897 IAO:0000115 Slow or limited growth after birth Slow or limited growth after birth NOT_TRANSLATED -en nl HP:0008905 rdfs:label Rhizomelia Rhizomelie CANDIDATE -en nl HP:0008905 IAO:0000115 Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus) Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus) NOT_TRANSLATED -en nl HP:0008909 rdfs:label Lethal short-limbed short stature Lethale korte-ledemaat kleine lengte CANDIDATE -en nl HP:0008915 rdfs:label Childhood-onset truncal obesity Childhood-onset van truncale obesitas CANDIDATE -en nl HP:0008915 IAO:0000115 Truncal obesity with onset during childhood, defined as between 2 and 10 years of age Truncal obesity with onset during childhood, defined as between 2 and 10 years of age NOT_TRANSLATED -en nl HP:0008921 rdfs:label Neonatal short-limb short stature Neonatale korte-ledemaat kleine lengte CANDIDATE -en nl HP:0008921 IAO:0000115 A type of short-limbed dwarfism that is manifest beginning in the neonatal period A type of short-limbed dwarfism that is manifest beginning in the neonatal period NOT_TRANSLATED -en nl HP:0008922 rdfs:label Childhood-onset short-trunk short stature Childhood-onset van korte-romp kleine lengte CANDIDATE -en nl HP:0008922 IAO:0000115 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood NOT_TRANSLATED -en nl HP:0008929 rdfs:label Asymmetric short stature Asymmetrische korte lengte CANDIDATE -en nl HP:0008935 rdfs:label Generalized neonatal hypotonia Gegeneraliseerde neonatale hypotonie CANDIDATE -en nl HP:0008935 IAO:0000115 Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature NOT_TRANSLATED -en nl HP:0008936 rdfs:label Axial hypotonia Musculaire hypotonie van de romp CANDIDATE -en nl HP:0008936 IAO:0000115 Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk NOT_TRANSLATED -en nl HP:0008940 rdfs:label Generalized lymphadenopathy Gegeneraliseerde lymfadenopathie CANDIDATE -en nl HP:0008940 IAO:0000115 A generalized form of lymphadenopathy A generalized form of lymphadenopathy NOT_TRANSLATED -en nl HP:0008942 rdfs:label Acute rhabdomyolysis Acute rabdomyolyse CANDIDATE -en nl HP:0008942 IAO:0000115 An acute form of rhabdomyolysis An acute form of rhabdomyolysis NOT_TRANSLATED -en nl HP:0008944 rdfs:label Distal lower limb amyotrophy Distale onderste extremiteit amyotrofie CANDIDATE -en nl HP:0008944 IAO:0000115 Muscular atrophy of distal leg muscles Muscular atrophy of distal leg muscles NOT_TRANSLATED -en nl HP:0008945 rdfs:label Loss of ability to walk in early childhood Verlies van vermogen om te lopen in de vroege kindertijd CANDIDATE -en nl HP:0008946 rdfs:label Pelvic girdle amyotrophy Bekkengordel amyotrofie CANDIDATE -en nl HP:0008946 IAO:0000115 Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle NOT_TRANSLATED -en nl HP:0008947 rdfs:label Infantile muscular hypotonia Infantiele musculaire hypotonie CANDIDATE -en nl HP:0008947 IAO:0000115 Muscular hypotonia (abnormally low muscle tone) manifesting in infancy Muscular hypotonia (abnormally low muscle tone) manifesting in infancy NOT_TRANSLATED -en nl HP:0008948 rdfs:label Proximal upper limb amyotrophy Proximale bovenste extremiteit amyotrofie CANDIDATE -en nl HP:0008948 IAO:0000115 Muscular atrophy affecting proximally located muscles of the arms Muscular atrophy affecting proximally located muscles of the arms NOT_TRANSLATED -en nl HP:0008952 rdfs:label Shoulder muscle hypoplasia Schouder spieren hypoplasie CANDIDATE -en nl HP:0008952 IAO:0000115 Underdevelopment of muscles of the shoulder Underdevelopment of muscles of the shoulder NOT_TRANSLATED -en nl HP:0008953 rdfs:label Pectoralis major hypoplasia Pectoralis major hypoplasie CANDIDATE -en nl HP:0008953 IAO:0000115 Underdevelopment of the pectoralis major Underdevelopment of the pectoralis major NOT_TRANSLATED -en nl HP:0008954 rdfs:label Intrinsic hand muscle atrophy Intrinsieke handspier atrofie CANDIDATE -en nl HP:0008954 IAO:0000115 Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles NOT_TRANSLATED -en nl HP:0008955 rdfs:label Progressive distal muscular atrophy Progressieve distale musculaire atrofie CANDIDATE -en nl HP:0008955 IAO:0000115 Progressive muscular atrophy affecting muscles in the distal portions of the extremities Progressive muscular atrophy affecting muscles in the distal portions of the extremities NOT_TRANSLATED -en nl HP:0008956 rdfs:label Proximal lower limb amyotrophy Proximale onderste extremiteit amyotrofie CANDIDATE -en nl HP:0008956 IAO:0000115 Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh NOT_TRANSLATED -en nl HP:0008959 rdfs:label Distal upper limb muscle weakness Spierzwakte van de distale bovenste extremiteit CANDIDATE -en nl HP:0008959 IAO:0000115 Reduced strength of the distal musculature of the arms Reduced strength of the distal musculature of the arms NOT_TRANSLATED -en nl HP:0008962 rdfs:label Calf muscle hypoplasia Kuitspier hypoplasie CANDIDATE -en nl HP:0008962 IAO:0000115 Underdevelopment of the muscuklature of the calf Underdevelopment of the muscuklature of the calf NOT_TRANSLATED -en nl HP:0008963 rdfs:label Tibialis muscle weakness Musculus tibialis zwakte CANDIDATE -en nl HP:0008963 IAO:0000115 Muscle weakness affecting the tibialis anterior muscle Muscle weakness affecting the tibialis anterior muscle NOT_TRANSLATED -en nl HP:0008964 rdfs:label Nonprogressive muscular atrophy Non-progressieve spieratrofie CANDIDATE -en nl HP:0008964 IAO:0000115 Muscular atrophy that does not display a progression in severity with time Muscular atrophy that does not display a progression in severity with time NOT_TRANSLATED -en nl HP:0008967 rdfs:label Exercise-induced muscle stiffness Inspanning-geïnduceerde spierstijfheid CANDIDATE -en nl HP:0008967 IAO:0000115 A type of muscle stiffness that occurs following physical exertion A type of muscle stiffness that occurs following physical exertion NOT_TRANSLATED -en nl HP:0008968 rdfs:label Muscle hypertrophy of the lower extremities Spier hypertrofie van de onderste extremiteiten CANDIDATE -en nl HP:0008968 IAO:0000115 Muscle hypertrophy primarily affecting the legs Muscle hypertrophy primarily affecting the legs NOT_TRANSLATED -en nl HP:0008969 rdfs:label Leg muscle stiffness Been spierstijfheid CANDIDATE -en nl HP:0008970 rdfs:label Scapulohumeral muscular dystrophy Scapulohumerale spierdystrofie CANDIDATE -en nl HP:0008972 rdfs:label Decreased activity of mitochondrial respiratory chain Afgenomen activiteit van mitochondriale ademhalingsketen CANDIDATE -en nl HP:0008972 IAO:0000115 Decreased activity of the mitochondrial respiratory chain Decreased activity of the mitochondrial respiratory chain NOT_TRANSLATED -en nl HP:0008978 rdfs:label Necrotizing myopathy Necrotiserende myopathie CANDIDATE -en nl HP:0008981 rdfs:label Calf muscle hypertrophy Kuitspier hypertrofie CANDIDATE -en nl HP:0008981 IAO:0000115 Muscle hypertrophy affecting the calf muscles Muscle hypertrophy affecting the calf muscles NOT_TRANSLATED -en nl HP:0008984 rdfs:label Neck muscle hypoplasia Nekspier hypoplasie CANDIDATE -en nl HP:0008984 IAO:0000115 Underdevelopment of muscles of the neck Underdevelopment of muscles of the neck NOT_TRANSLATED -en nl HP:0008985 rdfs:label Increased intramuscular fat Verhoogd intramusculair vet CANDIDATE -en nl HP:0008985 IAO:0000115 An abnormal increase in the amount of intramuscular fat tissue An abnormal increase in the amount of intramuscular fat tissue NOT_TRANSLATED -en nl HP:0008986 rdfs:label Agenesis of the diaphragm Agenesie van het diafragma CANDIDATE -en nl HP:0008986 IAO:0000115 Congenital lack, i.e., aplasia of the diaphragm Congenital lack, i.e., aplasia of the diaphragm NOT_TRANSLATED -en nl HP:0008988 rdfs:label Pelvic girdle muscle atrophy Bekkengordel spieratrofie CANDIDATE -en nl HP:0008988 IAO:0000115 Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles) Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles) NOT_TRANSLATED -en nl HP:0008991 rdfs:label Exercise-induced leg cramps Inspanning-geïnduceerde been krampen CANDIDATE -en nl HP:0008991 IAO:0000115 Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion NOT_TRANSLATED -en nl HP:0008993 rdfs:label Increased intraabdominal fat Verhoogd intra-abdominaal vet CANDIDATE -en nl HP:0008993 IAO:0000115 An abnormal increase in the amount of intraabdominal fat tissue An abnormal increase in the amount of intraabdominal fat tissue NOT_TRANSLATED -en nl HP:0008994 rdfs:label Proximal muscle weakness in lower limbs Proximale spierzwakte in onderste extremiteiten CANDIDATE -en nl HP:0008994 IAO:0000115 A lack of strength of the proximal muscles of the legs A lack of strength of the proximal muscles of the legs NOT_TRANSLATED -en nl HP:0008997 rdfs:label Proximal muscle weakness in upper limbs Proximale spierzwakte in bovenste extremiteiten CANDIDATE -en nl HP:0008997 IAO:0000115 A lack of strength of the proximal muscles of the arms A lack of strength of the proximal muscles of the arms NOT_TRANSLATED -en nl HP:0008998 rdfs:label Pectoralis hypoplasia Pectoralis hypoplasie CANDIDATE -en nl HP:0008998 IAO:0000115 Underdevelopment of the pectoral muscle Underdevelopment of the pectoral muscle NOT_TRANSLATED -en nl HP:0009002 rdfs:label Loss of truncal subcutaneous adipose tissue Verlies van truncaal subcutaan vetweefsel CANDIDATE -en nl HP:0009002 IAO:0000115 Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk NOT_TRANSLATED -en nl HP:0009003 rdfs:label Increased subcutaneous truncal adipose tissue Toegenomen truncaal subcutaan vetweefsel CANDIDATE -en nl HP:0009003 IAO:0000115 The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body NOT_TRANSLATED -en nl HP:0009004 rdfs:label Hypoplasia of the musculature Hypoplasie van de musculatuur CANDIDATE -en nl HP:0009004 IAO:0000115 Underdevelopment of the musculature Underdevelopment of the musculature NOT_TRANSLATED -en nl HP:0009005 rdfs:label Weakness of the intrinsic hand muscles Zwakte van de intrinsieke handspieren CANDIDATE -en nl HP:0009007 rdfs:label Biceps hypoplasia Biceps hypoplasie CANDIDATE -en nl HP:0009007 IAO:0000115 Underdevelopment of the biceps muscle Underdevelopment of the biceps muscle NOT_TRANSLATED -en nl HP:0009011 rdfs:label Hypoplasia of serratus anterior muscle Hypoplasie van de musculus serratus anterior CANDIDATE -en nl HP:0009011 IAO:0000115 Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula NOT_TRANSLATED -en nl HP:0009013 rdfs:label Congenital absence of gluteal muscles Congenitale afwezigheid van gluteusspieren CANDIDATE -en nl HP:0009016 rdfs:label Upper limb muscle hypoplasia Hypoplasie van spier van de bovenste extremiteit CANDIDATE -en nl HP:0009016 IAO:0000115 Underdevelopment of muscles of the arm Underdevelopment of muscles of the arm NOT_TRANSLATED -en nl HP:0009017 rdfs:label Loss of gluteal subcutaneous adipose tissue Verlies van gluteus subcutaan vetweefsel CANDIDATE -en nl HP:0009017 IAO:0000115 Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region NOT_TRANSLATED -en nl HP:0009019 rdfs:label Progressive loss of facial adipose tissue Progressief verlies van faciaal vetweefsel CANDIDATE -en nl HP:0009020 rdfs:label Exercise-induced muscle fatigue Inspanning-geïnduceerde spierpijn CANDIDATE -en nl HP:0009020 IAO:0000115 An abnormally increased tendency towards muscle fatigue induced by physical exercise An abnormally increased tendency towards muscle fatigue induced by physical exercise NOT_TRANSLATED -en nl HP:0009023 rdfs:label Abdominal wall muscle weakness Buikwand spierzwakte CANDIDATE -en nl HP:0009023 IAO:0000115 Decreased strength of the abdominal musculature Decreased strength of the abdominal musculature NOT_TRANSLATED -en nl HP:0009025 rdfs:label Increased connective tissue Toegenomen bindweefsel CANDIDATE -en nl HP:0009025 IAO:0000115 The presence of an abnormally increased amount of connective tissue The presence of an abnormally increased amount of connective tissue NOT_TRANSLATED -en nl HP:0009026 rdfs:label Hypoplasia of latissimus dorsi muscle Hypoplasie van de musculus latissimus dorsi CANDIDATE -en nl HP:0009026 IAO:0000115 Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula NOT_TRANSLATED -en nl HP:0009027 rdfs:label Foot dorsiflexor weakness Voet dorsiflexor zwakte CANDIDATE -en nl HP:0009027 IAO:0000115 Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles NOT_TRANSLATED -en nl HP:0009028 rdfs:label Generalized weakness of limb muscles Gegeneraliseerde zwakte van de spieren van de ledematen CANDIDATE -en nl HP:0009028 IAO:0000115 Generalized weakness of the muscles of the arms and legs Generalized weakness of the muscles of the arms and legs NOT_TRANSLATED -en nl HP:0009031 rdfs:label Amyotrophy of ankle musculature Amyotrofie van enkel musculatuur CANDIDATE -en nl HP:0009031 IAO:0000115 Atrophy of the muscles of the ankle Atrophy of the muscles of the ankle NOT_TRANSLATED -en nl HP:0009037 rdfs:label Segmental spinal muscular atrophy Segmentale spinale musculaire atrofie CANDIDATE -en nl HP:0009045 rdfs:label Exercise-induced rhabdomyolysis Inspanning-geïnduceerde rhabdomyolyse CANDIDATE -en nl HP:0009045 IAO:0000115 Rhabdomyolysis induced by exercise Rhabdomyolysis induced by exercise NOT_TRANSLATED -en nl HP:0009046 rdfs:label Difficulty running Moeite met rennen CANDIDATE -en nl HP:0009046 IAO:0000115 Reduced ability to run Reduced ability to run NOT_TRANSLATED -en nl HP:0009049 rdfs:label Peroneal muscle atrophy Peroneale spieratrofie CANDIDATE -en nl HP:0009049 IAO:0000115 Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius) Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius) NOT_TRANSLATED -en nl HP:0009050 rdfs:label Quadriceps muscle atrophy Quadriceps spieratrofie CANDIDATE -en nl HP:0009050 IAO:0000115 Muscular atrophy involving the quadriceps muscle Muscular atrophy involving the quadriceps muscle NOT_TRANSLATED -en nl HP:0009051 rdfs:label Increased muscle glycogen content Verhoogde spier glycogeen inhoud CANDIDATE -en nl HP:0009051 IAO:0000115 An increased amount of glycogen in muscle tissue An increased amount of glycogen in muscle tissue NOT_TRANSLATED -en nl HP:0009053 rdfs:label Distal lower limb muscle weakness Spierzwakte van de distale onderste extremiteit CANDIDATE -en nl HP:0009053 IAO:0000115 Reduced strength of the distal musculature of the legs Reduced strength of the distal musculature of the legs NOT_TRANSLATED -en nl HP:0009054 rdfs:label Scapuloperoneal myopathy Scapuloperoneale myopathie CANDIDATE -en nl HP:0009055 rdfs:label Generalized limb muscle atrophy Gegeneraliseerde extremiteit spieratrofie CANDIDATE -en nl HP:0009055 IAO:0000115 Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations NOT_TRANSLATED -en nl HP:0009056 rdfs:label Loss of subcutaneous adipose tissue from upper limbs Verlies van subcutaan vetweefsel in bovenste extremiteiten CANDIDATE -en nl HP:0009058 rdfs:label Increased muscle lipid content Verhoogde spier lipide inhoud CANDIDATE -en nl HP:0009058 IAO:0000115 An abnormal accumulation of lipids in skeletal muscle An abnormal accumulation of lipids in skeletal muscle NOT_TRANSLATED -en nl HP:0009059 rdfs:label Congenital generalized lipodystrophy Congenitale gegeneraliseerde lipodystrofie CANDIDATE -en nl HP:0009060 rdfs:label Scapular muscle atrophy Scapula spieratrofie CANDIDATE -en nl HP:0009060 IAO:0000115 Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle NOT_TRANSLATED -en nl HP:0009062 rdfs:label Infantile axial hypotonia Infantiele axiale hypotonie CANDIDATE -en nl HP:0009062 IAO:0000115 Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy NOT_TRANSLATED -en nl HP:0009063 rdfs:label Progressive distal muscle weakness Progressieve distale spierzwakte CANDIDATE -en nl HP:0009063 IAO:0000115 Progressively reduced strength of the distal musculature Progressively reduced strength of the distal musculature NOT_TRANSLATED -en nl HP:0009064 rdfs:label Generalized lipodystrophy Gegeneraliseerde lipodystrofie CANDIDATE -en nl HP:0009064 IAO:0000115 Generalized degenerative changes of the fat tissue Generalized degenerative changes of the fat tissue NOT_TRANSLATED -en nl HP:0009067 rdfs:label Progressive spinal muscular atrophy Progressieve spinale musculaire atrofie CANDIDATE -en nl HP:0009067 IAO:0000115 Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem NOT_TRANSLATED -en nl HP:0009069 rdfs:label Lethal infantile mitochondrial myopathy Lethale infantiele mitochondriale myopathie CANDIDATE -en nl HP:0009071 rdfs:label Inflammatory myopathy Inflammatoire myopathie CANDIDATE -en nl HP:0009071 IAO:0000115 Chronic muscle inflammation accompanied by muscle weakness Chronic muscle inflammation accompanied by muscle weakness NOT_TRANSLATED -en nl HP:0009072 rdfs:label Decreased Achilles reflex Verminderde Achillespees reflex CANDIDATE -en nl HP:0009072 IAO:0000115 Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed NOT_TRANSLATED -en nl HP:0009073 rdfs:label Progressive proximal muscle weakness Progressieve proximale spierzwakte CANDIDATE -en nl HP:0009073 IAO:0000115 Lack of strength of the proximal muscles that becomes progressively more severe Lack of strength of the proximal muscles that becomes progressively more severe NOT_TRANSLATED -en nl HP:0009077 rdfs:label Weakness of long finger extensor muscles Zwakte van de extensoren van lange vinger CANDIDATE -en nl HP:0009084 rdfs:label Midline notch of upper alveolar ridge Midline notch of upper alveolar ridge NOT_TRANSLATED -en nl HP:0009085 rdfs:label Alveolar ridge overgrowth Alveolar ridge overgrowth NOT_TRANSLATED -en nl HP:0009085 IAO:0000115 Increased width of the alveolar ridges Increased width of the alveolar ridges NOT_TRANSLATED -en nl HP:0009087 rdfs:label Posteriorly placed tongue Posterieur geplaatste tong CANDIDATE -en nl HP:0009088 rdfs:label Speech articulation difficulties Spraak articulatie problemen CANDIDATE -en nl HP:0009088 IAO:0000115 Impairment in the physical production of speech sounds Impairment in the physical production of speech sounds NOT_TRANSLATED -en nl HP:0009092 rdfs:label Progressive alveolar ridge hypertropy Progressive alveolar ridge hypertropy NOT_TRANSLATED -en nl HP:0009094 rdfs:label Cleft lower alveolar ridge Cleft lower alveolar ridge NOT_TRANSLATED -en nl HP:0009098 rdfs:label Chronic oral candidiasis Chronische orale candidiasis CANDIDATE -en nl HP:0009098 IAO:0000115 Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx NOT_TRANSLATED -en nl HP:0009099 rdfs:label Median cleft palate Mediaan gespleten gehemelte CANDIDATE -en nl HP:0009099 IAO:0000115 Cleft palate of the midline of the palate Cleft palate of the midline of the palate NOT_TRANSLATED -en nl HP:0009100 rdfs:label Thick anterior alveolar ridges Thick anterior alveolar ridges NOT_TRANSLATED -en nl HP:0009101 rdfs:label Submucous cleft lip Submuceus gespleten lip CANDIDATE -en nl HP:0009101 IAO:0000115 A cleft of the lip with overlying mucous membrane A cleft of the lip with overlying mucous membrane NOT_TRANSLATED -en nl HP:0009102 rdfs:label Anterior open-bite malocclusion Anterieure open beet malocclusie CANDIDATE -en nl HP:0009102 IAO:0000115 Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion NOT_TRANSLATED -en nl HP:0009103 rdfs:label Aplasia/Hypoplasia involving the pelvis Aplasia/Hypoplasie waarbij het bekken betrokken is CANDIDATE -en nl HP:0009104 rdfs:label Aplasia/Hypoplasia of the pubic bone Aplasia/Hypoplasie van het os pubis CANDIDATE -en nl HP:0009104 IAO:0000115 Absence or underdevelopment of the pubic bone Absence or underdevelopment of the pubic bone NOT_TRANSLATED -en nl HP:0009105 rdfs:label Abnormal ossification of the pubic bone Afwijkende ossificatie van het os pubis CANDIDATE -en nl HP:0009105 IAO:0000115 Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis NOT_TRANSLATED -en nl HP:0009106 rdfs:label Abnormal pelvis bone ossification Abnormale bekkenbot ossificatie CANDIDATE -en nl HP:0009106 IAO:0000115 An abnormality of the formation and mineralization of any bone of the bony pelvis An abnormality of the formation and mineralization of any bone of the bony pelvis NOT_TRANSLATED -en nl HP:0009107 rdfs:label Abnormal ossification involving the femoral head and neck Afwijkende ossificatie waarbij de femurkop en collum betrokken zijn CANDIDATE -en nl HP:0009108 rdfs:label Aplasia/Hypoplasia involving the femoral head and neck Aplasia/Hypoplasie waarbij de femurkop en collum betrokken zijn CANDIDATE -en nl HP:0009109 rdfs:label Denervation of the diaphragm Denervatie van het diafragma CANDIDATE -en nl HP:0009109 IAO:0000115 Interruption of the innervation of the diaphragm Interruption of the innervation of the diaphragm NOT_TRANSLATED -en nl HP:0009110 rdfs:label Diaphragmatic eventration Diafragmatische eventratie CANDIDATE -en nl HP:0009110 IAO:0000115 A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development NOT_TRANSLATED -en nl HP:0009112 rdfs:label Aplasia of the left hemidiaphragm Afwezig linker hemidiafragma CANDIDATE -en nl HP:0009112 IAO:0000115 Congenital absence of the left half of the diaphragm Congenital absence of the left half of the diaphragm NOT_TRANSLATED -en nl HP:0009113 rdfs:label Diaphragmatic weakness Diafragmatische zwakte CANDIDATE -en nl HP:0009113 IAO:0000115 A decrease in the strength of the diaphragm A decrease in the strength of the diaphragm NOT_TRANSLATED -en nl HP:0009115 rdfs:label Aplasia/hypoplasia involving the skeleton Aplasia/hypoplasie waarbij het skelet betrokken is CANDIDATE -en nl HP:0009115 IAO:0000115 Absence (due to failure to form) or underdevelopment of one or more components of the skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton NOT_TRANSLATED -en nl HP:0009116 rdfs:label Aplasia/Hypoplasia involving bones of the skull Aplasia/Hypoplasie waarbij botten van de schedel betrokken zijn CANDIDATE -en nl HP:0009117 rdfs:label Aplasia/Hypoplasia of the maxilla Aplasia/Hypoplasie van de maxilla CANDIDATE -en nl HP:0009117 IAO:0000115 Absence or underdevelopment of the maxilla Absence or underdevelopment of the maxilla NOT_TRANSLATED -en nl HP:0009118 rdfs:label Aplasia/Hypoplasia of the mandible Aplasia/Hypoplasie van de mandibula CANDIDATE -en nl HP:0009118 IAO:0000115 Absence or underdevelopment of the mandible Absence or underdevelopment of the mandible NOT_TRANSLATED -en nl HP:0009119 rdfs:label Aplasia/Hypoplasia of the frontal sinuses Aplasia/Hypoplasie van de frontale sinussen CANDIDATE -en nl HP:0009119 IAO:0000115 Absence or underdevelopment of frontal sinus Absence or underdevelopment of frontal sinus NOT_TRANSLATED -en nl HP:0009120 rdfs:label Aplasia/Hypoplasia involving the sinuses Aplasia/Hypoplasie waarbij de sinussen betrokken zijn CANDIDATE -en nl HP:0009120 IAO:0000115 Absence or underdevelopment of a cranial sinus or sinuses Absence or underdevelopment of a cranial sinus or sinuses NOT_TRANSLATED -en nl HP:0009121 rdfs:label Abnormal axial skeleton morphology Afwijkende axiale skelet morfologie CANDIDATE -en nl HP:0009121 IAO:0000115 An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum NOT_TRANSLATED -en nl HP:0009122 rdfs:label Aplasia/hypoplasia affecting bones of the axial skeleton Aplasie/hypoplasie die botten van het axiale skelet beïnvloedt CANDIDATE -en nl HP:0009122 IAO:0000115 Absence (due to failure to form) or underdevelopment of bones of the axial skeleton Absence (due to failure to form) or underdevelopment of bones of the axial skeleton NOT_TRANSLATED -en nl HP:0009123 rdfs:label Mixed hypo- and hyperpigmentation of the skin Gemengde hypo- en hyperpigmentatie van de huid CANDIDATE -en nl HP:0009124 rdfs:label Abnormal adipose tissue morphology Afwijkende vetweefsel morfologie CANDIDATE -en nl HP:0009124 IAO:0000115 An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes NOT_TRANSLATED -en nl HP:0009125 rdfs:label Lipodystrophy Lipodystrofie CANDIDATE -en nl HP:0009125 IAO:0000115 Degenerative changes of the fat tissue Degenerative changes of the fat tissue NOT_TRANSLATED -en nl HP:0009126 rdfs:label Increased adipose tissue Toegenomen vetweefsel CANDIDATE -en nl HP:0009126 IAO:0000115 An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell) An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell) NOT_TRANSLATED -en nl HP:0009127 rdfs:label Abnormality of the musculature of the limbs Afwijking van musculatuur van de extremiteiten CANDIDATE -en nl HP:0009128 rdfs:label Aplasia/Hypoplasia involving the musculature of the extremities Aplasie/Hypoplasie waarbij de musculatuur van de extremiteiten betrokken is CANDIDATE -en nl HP:0009129 rdfs:label Upper limb amyotrophy Amyotrofie van bovenste extremiteit CANDIDATE -en nl HP:0009129 IAO:0000115 Muscular atrophy involving the muscles of the upper limbs Muscular atrophy involving the muscles of the upper limbs NOT_TRANSLATED -en nl HP:0009130 rdfs:label Hand muscle atrophy Hand spieratrofie CANDIDATE -en nl HP:0009130 IAO:0000115 Muscular atrophy involving the muscles of the hand Muscular atrophy involving the muscles of the hand NOT_TRANSLATED -en nl HP:0009131 rdfs:label Abnormality of the musculature of the thorax Afwijking van de musculatuur van de thorax CANDIDATE -en nl HP:0009131 IAO:0000115 A disease or lesion affecting the muscles of the thorax A disease or lesion affecting the muscles of the thorax NOT_TRANSLATED -en nl HP:0009132 rdfs:label Abnormal tarsal bone mineral density Afwijkende tarsale bot mineraal dichtheid CANDIDATE -en nl HP:0009132 IAO:0000115 This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone NOT_TRANSLATED -en nl HP:0009134 rdfs:label Osteolysis involving bones of the feet Osteolyse waarbij de botten van de voeten betrokken zijn CANDIDATE -en nl HP:0009136 rdfs:label Duplication involving bones of the feet Duplicatie waarbij de botten van de voeten betrokken zijn CANDIDATE -en nl HP:0009138 rdfs:label Synostosis involving bones of the lower limbs Synostose waarbij de botten van de onderste ledematen betrokken zijn CANDIDATE -en nl HP:0009138 IAO:0000115 An abnormal union between bones or parts of bones lower limbs An abnormal union between bones or parts of bones lower limbs NOT_TRANSLATED -en nl HP:0009139 rdfs:label Osteolysis involving bones of the lower limbs Osteolyse waarbij de botten van de onderste ledematen betrokken zijn CANDIDATE -en nl HP:0009140 rdfs:label Synostosis involving bones of the feet Synostose waarbij de botten van de voeten betrokken zijn CANDIDATE -en nl HP:0009141 rdfs:label Depletion of mitochondrial DNA in muscle tissue Uitputting van mitochondriaal DNA in spierweefsel CANDIDATE -en nl HP:0009142 rdfs:label Duplication of bones involving the upper extremities Duplicatie van botten waarbij de bovenste extremiteiten betrokken zijn CANDIDATE -en nl HP:0009144 rdfs:label Supernumerary bones of the axial skeleton Extra botten van het axiale skelet CANDIDATE -en nl HP:0009145 rdfs:label Abnormal cerebral artery morphology Afwijkende cerebrale arterie morfologie CANDIDATE -en nl HP:0009145 IAO:0000115 Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery NOT_TRANSLATED -en nl HP:0009147 rdfs:label Enlarged epiphysis of the distal phalanx of the 5th finger Vergrote epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009147 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009148 rdfs:label Small epiphysis of the distal phalanx of the 5th finger Kleine epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009148 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009149 rdfs:label Triangular epiphysis of the distal phalanx of the 5th finger Driehoekige epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009149 IAO:0000115 A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009150 rdfs:label Abnormality of the proximal phalanx of the 5th finger Afwijking van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009150 IAO:0000115 Abnormality of the proximal phalanx of the little (5th) finger Abnormality of the proximal phalanx of the little (5th) finger NOT_TRANSLATED -en nl HP:0009152 rdfs:label Abnormality of the epiphyses of the 5th finger Afwijking van de epifysen van de 5e vinger CANDIDATE -en nl HP:0009152 IAO:0000115 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger NOT_TRANSLATED -en nl HP:0009153 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 5th finger Afwijking van de epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009153 IAO:0000115 Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED -en nl HP:0009154 rdfs:label Triangular epiphysis of the proximal phalanx of the 5th finger Driehoekige epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009154 IAO:0000115 A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009155 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 5th finger Kegel-vormige epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009155 IAO:0000115 A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009157 rdfs:label Ivory epiphysis of the proximal phalanx of the 5th finger Ivoren epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009157 IAO:0000115 Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009158 rdfs:label Enlarged epiphysis of the proximal phalanx of the 5th finger Vergrote epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009158 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009159 rdfs:label Small epiphysis of the proximal phalanx of the 5th finger Kleine epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009159 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009160 rdfs:label Absent epiphysis of the proximal phalanx of the 5th finger Afwezig epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009160 IAO:0000115 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009161 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 5th finger Aplasie/hypoplasie van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009161 IAO:0000115 Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger NOT_TRANSLATED -en nl HP:0009162 rdfs:label Absent middle phalanx of 5th finger Afwezige middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009162 IAO:0000115 Absence of the middle phalanx of the little (5th) finger Absence of the middle phalanx of the little (5th) finger NOT_TRANSLATED -en nl HP:0009164 rdfs:label Abnormal calcification of the carpal bones Afwijkende calcificatie van de carpale botten CANDIDATE -en nl HP:0009165 rdfs:label Stippling of the epiphysis of the distal phalanx of the 5th finger Vlekkerige calcificaties van de epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009165 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009166 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 5th finger Fragmentatie van de epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009166 IAO:0000115 Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009167 rdfs:label Irregular epiphysis of the distal phalanx of the 5th finger Irregulaire epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009167 IAO:0000115 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009168 rdfs:label Bullet-shaped middle phalanx of the 5th finger Kogel-vormige middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009168 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected NOT_TRANSLATED -en nl HP:0009169 rdfs:label Broad middle phalanx of the 5th finger Brede middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009169 IAO:0000115 Increased width of the middle phalanx of the 5th finger Increased width of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009170 rdfs:label Osteolytic defects of the middle phalanx of the 5th finger Osteolytische defecten van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009170 IAO:0000115 Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009171 rdfs:label Triangular epiphyses of the metacarpals Driehoekige epifysen van de metacarpalen CANDIDATE -en nl HP:0009171 IAO:0000115 A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals NOT_TRANSLATED -en nl HP:0009172 rdfs:label Abnormal 4th finger phalanx morphology Afwijking van de falangen van de 4e vinger CANDIDATE -en nl HP:0009172 IAO:0000115 Abnormality of the phalanges of the 4th (ring) finger Abnormality of the phalanges of the 4th (ring) finger NOT_TRANSLATED -en nl HP:0009173 rdfs:label Curved middle phalanx of the 5th finger Gebogen middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009173 IAO:0000115 Curved appearance of the middle phalanx of the 5th finger Curved appearance of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009174 rdfs:label Abnormality of the epiphyses of the 4th finger Afwijking van de epifysen van de 4e vinger CANDIDATE -en nl HP:0009174 IAO:0000115 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger NOT_TRANSLATED -en nl HP:0009175 rdfs:label Patchy sclerosis of the middle phalanx of the 5th finger Fragmentarische sclerose van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009175 IAO:0000115 Patchy increase in bone density of the middle phalanx of the 5th finger Patchy increase in bone density of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009177 rdfs:label Proximal/middle symphalangism of 5th finger Symfalangisme van het proximale/middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009177 IAO:0000115 Fusion of the proximal and middle phalanges of the 5th finger Fusion of the proximal and middle phalanges of the 5th finger NOT_TRANSLATED -en nl HP:0009178 rdfs:label Symphalangism of middle phalanx of 5th finger Symfalangisme van middelste falanx van 5e vinger CANDIDATE -en nl HP:0009178 IAO:0000115 Fusion of the middle phalanx of the 5th finger with another bone Fusion of the middle phalanx of the 5th finger with another bone NOT_TRANSLATED -en nl HP:0009179 rdfs:label Deviation of the 5th finger Deviatie van de 5e vinger CANDIDATE -en nl HP:0009179 IAO:0000115 Displacement of the 5th finger from its normal position Displacement of the 5th finger from its normal position NOT_TRANSLATED -en nl HP:0009180 rdfs:label Ulnar deviation of the 5th finger Ulnaire deviatie van de 5e vinger CANDIDATE -en nl HP:0009180 IAO:0000115 Displacement of the 5th finger towards the ulnar side Displacement of the 5th finger towards the ulnar side NOT_TRANSLATED -en nl HP:0009182 rdfs:label Triangular shaped middle phalanx of the 5th finger Driehoekige middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009182 IAO:0000115 Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009183 rdfs:label Joint contracture of the 5th finger Gewrichtscontractuur van de 5e vinger CANDIDATE -en nl HP:0009183 IAO:0000115 Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED -en nl HP:0009184 rdfs:label Contracture of the distal interphalangeal joint of the 5th finger Contractuur van het distale interfalangeale gewricht van de 5e vinger CANDIDATE -en nl HP:0009184 IAO:0000115 Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009185 rdfs:label Contracture of the proximal interphalangeal joint of the 5th finger Contractuur van het proximale interfalangeale gewricht van de 5e vinger CANDIDATE -en nl HP:0009185 IAO:0000115 Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED -en nl HP:0009186 rdfs:label Contracture of the metacarpophalangeal joint of the 5th finger Contractuur van het metacarpofalangeale gewricht van de 5e vinger CANDIDATE -en nl HP:0009186 IAO:0000115 Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009187 rdfs:label Bracket epiphysis of the distal phalanx of the 5th finger Haakvormige epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009187 IAO:0000115 An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009188 rdfs:label Pseudoepiphysis of the distal phalanx of the 5th finger Pseudo-epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009188 IAO:0000115 A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009189 rdfs:label Fragmentation of the metacarpal epiphyses Fragmentatie van de epifysen van de metacarpalen CANDIDATE -en nl HP:0009189 IAO:0000115 Fragmented appearance of the epiphyses of the metacarpals Fragmented appearance of the epiphyses of the metacarpals NOT_TRANSLATED -en nl HP:0009190 rdfs:label Irregular epiphyses of the metacarpals Irregulaire epifysen van de metacarpalen CANDIDATE -en nl HP:0009190 IAO:0000115 Irregular radiographic opacity of the epiphyses of the metacarpals Irregular radiographic opacity of the epiphyses of the metacarpals NOT_TRANSLATED -en nl HP:0009191 rdfs:label Ivory epiphyses of the metacarpals Ivoren epifysen van de metacarpalen CANDIDATE -en nl HP:0009191 IAO:0000115 Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009192 rdfs:label Aplasia/Hypoplasia of the proximal phalanx of the 5th finger Aplasie/Hypoplasie van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009192 IAO:0000115 Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger NOT_TRANSLATED -en nl HP:0009193 rdfs:label Pseudoepiphyses of the metacarpals Pseudo-epifysen van de metacarpalen CANDIDATE -en nl HP:0009193 IAO:0000115 A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone NOT_TRANSLATED -en nl HP:0009194 rdfs:label Small epiphyses of the metacarpals Kleine epifysen van de metacarpalen CANDIDATE -en nl HP:0009194 IAO:0000115 Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009195 rdfs:label Epiphyseal stippling of the metacarpals Epifsyaire vlekkerige calcificaties van metacarpalen CANDIDATE -en nl HP:0009195 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals NOT_TRANSLATED -en nl HP:0009196 rdfs:label Absent metacarpal epiphyses Afwezige epifysen van de metacarpalen CANDIDATE -en nl HP:0009196 IAO:0000115 Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals NOT_TRANSLATED -en nl HP:0009197 rdfs:label Bracket epiphysis of the proximal phalanx of the 5th finger Haakvormige epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009197 IAO:0000115 An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009198 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 5th finger Afwijking van de epifyse van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009198 IAO:0000115 Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED -en nl HP:0009199 rdfs:label Irregular epiphysis of the proximal phalanx of the 5th finger Onregelmatige epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009199 IAO:0000115 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009200 rdfs:label Pseudoepiphysis of the proximal phalanx of the 5th finger Pseudo-epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009200 IAO:0000115 A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009201 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 5th finger Vlekkerige calcificaties van de epifyse van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009201 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009202 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 5th finger Fragmentatie van de epifyse van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0009202 IAO:0000115 Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009203 rdfs:label Absent epiphysis of the middle phalanx of the 5th finger Afwezige epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009203 IAO:0000115 Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009204 rdfs:label Bracket epiphysis of the middle phalanx of the 5th finger Haakvormige epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009204 IAO:0000115 An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009205 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 5th finger Kegel-vormige epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009205 IAO:0000115 A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009206 rdfs:label Enlarged epiphysis of the middle phalanx of the 5th finger Vergrote epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009206 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009207 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 5th finger Fragmentatie van de epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009207 IAO:0000115 Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009208 rdfs:label Irregular epiphysis of the middle phalanx of the 5th finger Onregelmatige epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009208 IAO:0000115 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009209 rdfs:label Ivory epiphysis of the middle phalanx of the 5th finger Ivoren epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009209 IAO:0000115 Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009210 rdfs:label Pseudoepiphysis of the middle phalanx of the 5th finger Pseudo-epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009210 IAO:0000115 A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009211 rdfs:label Small epiphysis of the middle phalanx of the 5th finger Kleine epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009211 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009212 rdfs:label Stippling of the epiphysis of the middle phalanx of the 5th finger Vlekkerige calcificaties van de epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009212 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009213 rdfs:label Triangular epiphysis of the middle phalanx of the 5th finger Driehoekige epifyse van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009213 IAO:0000115 A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009214 rdfs:label Absent epiphysis of the middle phalanx of the 4th finger Afwezige epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009214 IAO:0000115 Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009215 rdfs:label Bracket epiphysis of the middle phalanx of the 4th finger Haakvormige epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009215 IAO:0000115 An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009216 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 4th finger Kegel-vormige epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009216 IAO:0000115 A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009217 rdfs:label Enlarged epiphysis of the middle phalanx of the 4th finger Vergrote epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009217 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009218 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 4th finger Fragmentatie van de epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009218 IAO:0000115 Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009219 rdfs:label Irregular epiphysis of the middle phalanx of the 4th finger Onregelmatige epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009219 IAO:0000115 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009220 rdfs:label Ivory epiphysis of the middle phalanx of the 4th finger Ivoren epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009220 IAO:0000115 Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009221 rdfs:label Pseudoepiphysis of the middle phalanx of the 4th finger Pseudo-epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009221 IAO:0000115 A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009222 rdfs:label Small epiphysis of the middle phalanx of the 4th finger Kleine epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009222 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009223 rdfs:label Stippling of the epiphysis of the middle phalanx of the 4th finger Vlekkerige calcificaties van de epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009223 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009224 rdfs:label Triangular epiphysis of the middle phalanx of the 4th finger Driehoekige epifyse van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009224 IAO:0000115 A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009225 rdfs:label Aplasia of the proximal phalanx of the 5th finger Aplasie van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009225 IAO:0000115 Absence of the proximal phalanx of the little (5th) finger Absence of the proximal phalanx of the little (5th) finger NOT_TRANSLATED -en nl HP:0009226 rdfs:label Short proximal phalanx of the 5th finger Korte proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009226 IAO:0000115 Hypoplastic/small proximal phalanx of the fifth finger Hypoplastic/small proximal phalanx of the fifth finger NOT_TRANSLATED -en nl HP:0009227 rdfs:label Broad proximal phalanx of the 5th finger Breed proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009227 IAO:0000115 Increased width of the proximal phalanx of the 5th finger Increased width of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009228 rdfs:label Bullet-shaped proximal phalanx of the 5th finger Kogel-vormige proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009228 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected NOT_TRANSLATED -en nl HP:0009229 rdfs:label Curved proximal phalanx of the 5th finger Breed proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009229 IAO:0000115 Curved appearance of the proximal phalanx of the 5th finger Curved appearance of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009230 rdfs:label Osteolytic defects of the proximal phalanx of the 5th finger Osteolytische defecten van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009230 IAO:0000115 Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009231 rdfs:label Patchy sclerosis of the proximal phalanx of the 5th finger Fragmentarische sclerose van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009231 IAO:0000115 Patchy increase in bone density of the proximal phalanx of the 5th finger Patchy increase in bone density of the proximal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009232 rdfs:label Symphalangism affecting the proximal phalanx of the 5th finger Symfalangisme van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009232 IAO:0000115 Fusion of the proximal phalanx of the 5th finger with another bone Fusion of the proximal phalanx of the 5th finger with another bone NOT_TRANSLATED -en nl HP:0009233 rdfs:label Triangular shaped proximal phalanx of the 5th finger Driehoekige proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009233 IAO:0000115 Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009234 rdfs:label Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal Symfalangisme van de proximale falanx van de 5e vinger met de 5e metacarpaal CANDIDATE -en nl HP:0009234 IAO:0000115 Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal NOT_TRANSLATED -en nl HP:0009236 rdfs:label Rhomboid or triangular shaped 5th finger proximal phalanx Parallellogram- of driehoekig-vormige proximale falanx van 5e vinger CANDIDATE -en nl HP:0009236 IAO:0000115 Rhomboid or triangular shaped 5th (little) finger proximal phalanx Rhomboid or triangular shaped 5th (little) finger proximal phalanx NOT_TRANSLATED -en nl HP:0009237 rdfs:label Short 5th finger Korte 5e vinger CANDIDATE -en nl HP:0009237 IAO:0000115 Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger NOT_TRANSLATED -en nl HP:0009238 rdfs:label Aplasia of the 5th finger Aplasie van 5e vinger CANDIDATE -en nl HP:0009238 IAO:0000115 Absent 5th (little) finger Absent 5th (little) finger NOT_TRANSLATED -en nl HP:0009239 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 5th finger Aplasie/hypoplasie van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009240 rdfs:label Broad distal phalanx of the 5th finger Brede distale falanx van de 5e vinger CANDIDATE -en nl HP:0009240 IAO:0000115 Increased width of the distal phalanx of the 5th finger Increased width of the distal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009241 rdfs:label Bullet-shaped distal phalanx of the 5th finger Kogel-vormige distale falanx van de 5e vinger CANDIDATE -en nl HP:0009241 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected NOT_TRANSLATED -en nl HP:0009242 rdfs:label Osteolytic defects of the distal phalanx of the 5th finger Osteolytische defecten van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009242 IAO:0000115 Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009243 rdfs:label Patchy sclerosis of the distal phalanx of the 5th finger Fragmentarische sclerose van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009243 IAO:0000115 Patchy increase in bone density of the distal phalanx of the 5th finger Patchy increase in bone density of the distal phalanx of the 5th finger NOT_TRANSLATED -en nl HP:0009244 rdfs:label Distal/middle symphalangism of 5th finger Symfalangisme van het distale/middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009244 IAO:0000115 Fusion of the terminal/distal and middle phalanges of the 5th finger Fusion of the terminal/distal and middle phalanges of the 5th finger NOT_TRANSLATED -en nl HP:0009245 rdfs:label Triangular shaped distal phalanx of the 5th finger Driehoekige distale falanx van de 5e vinger CANDIDATE -en nl HP:0009245 IAO:0000115 Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009246 rdfs:label Aplasia of the distal phalanx of the 5th finger Aplasie van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009246 IAO:0000115 Absence of the distal phalanx of the little (5th) finger Absence of the distal phalanx of the little (5th) finger NOT_TRANSLATED -en nl HP:0009247 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 4th finger Afwijking van de epiphysis van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009248 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 4th finger Afwijking van de epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009249 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 4th finger Afwijking van de epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009250 rdfs:label Absent epiphysis of the distal phalanx of the 4th finger Afwezige epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009250 IAO:0000115 Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009251 rdfs:label Bracket epiphysis of the distal phalanx of the 4th finger Haakvormige epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009251 IAO:0000115 An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009252 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 4th finger Kegel-vormige epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009252 IAO:0000115 A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009253 rdfs:label Enlarged epiphysis of the distal phalanx of the 4th finger Vergrote epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009253 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009254 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 4th finger Fragmentatie van de epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009254 IAO:0000115 Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009255 rdfs:label Irregular epiphysis of the distal phalanx of the 4th finger Irregulaire epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009255 IAO:0000115 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009256 rdfs:label Ivory epiphysis of the distal phalanx of the 4th finger Ivoren epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009256 IAO:0000115 Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009257 rdfs:label Pseudoepiphysis of the distal phalanx of the 4th finger Pseudo-epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009257 IAO:0000115 A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009258 rdfs:label Small epiphysis of the distal phalanx of the 4th finger Kleine epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009258 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009259 rdfs:label Stippling of the epiphysis of the distal phalanx of the 4th finger Vlekkerige calcificaties van de epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009259 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009260 rdfs:label Triangular epiphysis of the distal phalanx of the 4th finger Driehoekige epifyse van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009260 IAO:0000115 A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009261 rdfs:label Absent epiphysis of the proximal phalanx of the 4th finger Afwezig epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009261 IAO:0000115 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009262 rdfs:label Bracket epiphysis of the proximal phalanx of the 4th finger Haakvormige epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009262 IAO:0000115 An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009263 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 4th finger Kegel-vormige epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009263 IAO:0000115 A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009264 rdfs:label Enlarged epiphysis of the proximal phalanx of the 4th finger Vergrote epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009264 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009265 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 4th finger Fragmentatie van de epifyse van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0009265 IAO:0000115 Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009266 rdfs:label Irregular epiphysis of the proximal phalanx of the 4th finger Onregelmatige epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009266 IAO:0000115 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009267 rdfs:label Ivory epiphysis of the proximal phalanx of the 4th finger Ivoren epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009267 IAO:0000115 Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009268 rdfs:label Pseudoepiphysis of the proximal phalanx of the 4th finger Pseudo-epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009268 IAO:0000115 A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009269 rdfs:label Small epiphysis of the proximal phalanx of the 4th finger Kleine epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009269 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009270 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 4th finger Vlekkerige calcificaties van de epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009270 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009271 rdfs:label Triangular epiphysis of the proximal phalanx of the 4th finger Driehoekige epifyse van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009271 IAO:0000115 A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009272 rdfs:label Aplasia/Hypoplasia of the 4th finger Aplasie/Hypoplasie van 4e vinger CANDIDATE -en nl HP:0009272 IAO:0000115 A small/hypoplastic or absent/aplastic 4th (ring) finger A small/hypoplastic or absent/aplastic 4th (ring) finger NOT_TRANSLATED -en nl HP:0009273 rdfs:label Deviation of the 4th finger Deviatie van de 4e teen CANDIDATE -en nl HP:0009273 IAO:0000115 Displacement of the 4th finger from its normal position Displacement of the 4th finger from its normal position NOT_TRANSLATED -en nl HP:0009274 rdfs:label Joint contracture of the 4th finger Gewrichtscontractuur van de 4e vinger CANDIDATE -en nl HP:0009274 IAO:0000115 Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED -en nl HP:0009275 rdfs:label Contracture of the distal interphalangeal joint of the 4th finger Contractuur van het distale interfalangeale gewricht van de 4e vinger CANDIDATE -en nl HP:0009275 IAO:0000115 Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009276 rdfs:label Contracture of the proximal interphalangeal joint of the 4th finger Contractuur van het proximale interfalangeale gewricht van de 4e vinger CANDIDATE -en nl HP:0009276 IAO:0000115 Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED -en nl HP:0009277 rdfs:label Contracture of the metacarpophalangeal joint of the 4th finger Contractuur van het metacarpofalangeale gewricht van de 4e vinger CANDIDATE -en nl HP:0009277 IAO:0000115 Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009278 rdfs:label Ulnar deviation of the 4th finger Ulnaire deviatie van de 4e vinger CANDIDATE -en nl HP:0009278 IAO:0000115 Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger) Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger) NOT_TRANSLATED -en nl HP:0009279 rdfs:label Radial deviation of the 4th finger Radiale deviatie van de 4e vinger CANDIDATE -en nl HP:0009279 IAO:0000115 Displacement of the 4th finger towards the radial side (i.e., towards the thumb) Displacement of the 4th finger towards the radial side (i.e., towards the thumb) NOT_TRANSLATED -en nl HP:0009280 rdfs:label Short 4th finger Korte 4e vinger CANDIDATE -en nl HP:0009280 IAO:0000115 Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger NOT_TRANSLATED -en nl HP:0009281 rdfs:label Aplasia of the 4th finger Aplasie van 4e vinger CANDIDATE -en nl HP:0009281 IAO:0000115 Absent 4th finger Absent 4th finger NOT_TRANSLATED -en nl HP:0009282 rdfs:label Abnormality of the distal phalanx of the 4th finger Afwijking van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009283 rdfs:label Abnormality of the middle phalanx of the 4th finger Afwijking van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009284 rdfs:label Abnormality of the proximal phalanx of the 4th finger Afwijking van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009285 rdfs:label Curved phalanges of the 4th finger Gebogen falangen van de 4e vinger CANDIDATE -en nl HP:0009285 IAO:0000115 Curved appearance of the phalanges of the 4th (ring) finger Curved appearance of the phalanges of the 4th (ring) finger NOT_TRANSLATED -en nl HP:0009286 rdfs:label Curved distal phalanx of the 4th finger Gebogen distale falanx van de 4e vinger CANDIDATE -en nl HP:0009286 IAO:0000115 Curved appearance of the distal phalanx of the 4th (ring) finger Curved appearance of the distal phalanx of the 4th (ring) finger NOT_TRANSLATED -en nl HP:0009287 rdfs:label Curved middle phalanx of the 4th finger Gebogen middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009287 IAO:0000115 Curved appearance of the middle phalanx of the 4th (ring) finger Curved appearance of the middle phalanx of the 4th (ring) finger NOT_TRANSLATED -en nl HP:0009288 rdfs:label Curved proximal phalanx of the 4th finger Breed proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009289 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 4th finger Aplasie/hypoplasie van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009290 rdfs:label Short distal phalanx of the 4th finger Korte distale falanx van de 4e vinger CANDIDATE -en nl HP:0009290 IAO:0000115 Hypoplastic/small distal phalanx of the fourth finger Hypoplastic/small distal phalanx of the fourth finger NOT_TRANSLATED -en nl HP:0009291 rdfs:label Aplasia of the distal phalanx of the 4th finger Aplasie van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009291 IAO:0000115 Absence of the distal phalanx of the ring (4th) finger Absence of the distal phalanx of the ring (4th) finger NOT_TRANSLATED -en nl HP:0009292 rdfs:label Broad distal phalanx of the 4th finger Brede distale falanx van de 4e vinger CANDIDATE -en nl HP:0009292 IAO:0000115 Increased width of the distal phalanx of the 4th finger Increased width of the distal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009293 rdfs:label Broad middle phalanx of the 4th finger Brede middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009293 IAO:0000115 Increased width of the middle phalanx of the 4th finger Increased width of the middle phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009294 rdfs:label Absent middle phalanx of 4th finger Afwezige middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009294 IAO:0000115 Absence of the middle phalanx of the ring (4th) finger Absence of the middle phalanx of the ring (4th) finger NOT_TRANSLATED -en nl HP:0009295 rdfs:label Short middle phalanx of the 4th finger Korte middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009295 IAO:0000115 Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger NOT_TRANSLATED -en nl HP:0009296 rdfs:label Bullet-shaped middle phalanx of the 4th finger Kogel-vormige middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009296 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected NOT_TRANSLATED -en nl HP:0009297 rdfs:label Osteolytic defects of the middle phalanx of the 4th finger Osteolytisch defect van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009297 IAO:0000115 Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009298 rdfs:label Aplasia of the proximal phalanx of the 4th finger Aplasie van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009298 IAO:0000115 Absence of the proximal phalanx of the ring (4th) finger Absence of the proximal phalanx of the ring (4th) finger NOT_TRANSLATED -en nl HP:0009299 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 4th finger Aplasie/hypoplasie van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009300 rdfs:label Aplasia/Hypoplasia of the proximal phalanx of the 4th finger Aplasie/Hypoplasie van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009301 rdfs:label Short proximal phalanx of the 4th finger Korte proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009301 IAO:0000115 Hypoplastic/small proximal phalanx of the fourth finger Hypoplastic/small proximal phalanx of the fourth finger NOT_TRANSLATED -en nl HP:0009302 rdfs:label Bullet-shaped distal phalanx of the 4th finger Kogel-vormige distale falanx van de 4e vinger CANDIDATE -en nl HP:0009302 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected NOT_TRANSLATED -en nl HP:0009303 rdfs:label Osteolytic defects of the distal phalanx of the 4th finger Osteolytisch defect van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009303 IAO:0000115 Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009304 rdfs:label Patchy sclerosis of the distal phalanx of the 4th finger Fragmentarische sclerose van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009304 IAO:0000115 Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger NOT_TRANSLATED -en nl HP:0009305 rdfs:label Distal/middle symphalangism of 4th finger Symfalangisme van het distale/middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009305 IAO:0000115 Fusion of the terminal/distal and middle phalanges of the 4th finger Fusion of the terminal/distal and middle phalanges of the 4th finger NOT_TRANSLATED -en nl HP:0009306 rdfs:label Triangular shaped distal phalanx of the 4th finger Driehoekige distale falanx van de 4e vinger CANDIDATE -en nl HP:0009306 IAO:0000115 Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009307 rdfs:label Patchy sclerosis of the middle phalanx of the 4th finger Fragmentarische sclerose van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009307 IAO:0000115 Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger NOT_TRANSLATED -en nl HP:0009308 rdfs:label Symphalangism of middle phalanx of 4th finger Symfalangisme van middelste falanx van 4e vinger CANDIDATE -en nl HP:0009308 IAO:0000115 Fusion of the middle phalanx of the 4th finger with another bone Fusion of the middle phalanx of the 4th finger with another bone NOT_TRANSLATED -en nl HP:0009309 rdfs:label Triangular shaped middle phalanx of the 4th finger Driehoekige middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009309 IAO:0000115 Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009310 rdfs:label Broad proximal phalanx of the 4th finger Breed proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009310 IAO:0000115 Increased width of the proximal phalanx of the 4th finger Increased width of the proximal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009311 rdfs:label Bullet-shaped proximal phalanx of the 4th finger Kogel-vormige proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009311 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected NOT_TRANSLATED -en nl HP:0009312 rdfs:label Osteolytic defects of the proximal phalanx of the 4th finger Osteolytische defecten van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009312 IAO:0000115 Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger NOT_TRANSLATED -en nl HP:0009313 rdfs:label Patchy sclerosis of the proximal phalanx of the 4th finger Fragmentarische sclerose van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009313 IAO:0000115 Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger NOT_TRANSLATED -en nl HP:0009314 rdfs:label Symphalangism affecting the proximal phalanx of the 4th finger Symfalangisme van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009314 IAO:0000115 Fusion of the proximal phalanx of the 4th finger with another bone Fusion of the proximal phalanx of the 4th finger with another bone NOT_TRANSLATED -en nl HP:0009315 rdfs:label Triangular shaped proximal phalanx of the 4th finger Driehoekige proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009315 IAO:0000115 Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009316 rdfs:label Abnormal 3rd finger phalanx morphology Afwijking van de falangen van de 3e vinger CANDIDATE -en nl HP:0009316 IAO:0000115 Abnormality of the phalanges of the 3rd (middle) finger Abnormality of the phalanges of the 3rd (middle) finger NOT_TRANSLATED -en nl HP:0009317 rdfs:label Deviation of the 3rd finger Deviatie van de 3e vinger CANDIDATE -en nl HP:0009317 IAO:0000115 Displacement of the 3rd finger from its normal position Displacement of the 3rd finger from its normal position NOT_TRANSLATED -en nl HP:0009318 rdfs:label Aplasia/Hypoplasia of the 3rd finger Aplasie/Hypoplasie van 3e vinger CANDIDATE -en nl HP:0009318 IAO:0000115 A small/hypoplastic or absent/aplastic 3rd (middle) finger A small/hypoplastic or absent/aplastic 3rd (middle) finger NOT_TRANSLATED -en nl HP:0009319 rdfs:label Joint contracture of the 3rd finger Gewrichtscontractuur van de 3e vinger CANDIDATE -en nl HP:0009319 IAO:0000115 Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED -en nl HP:0009320 rdfs:label Abnormality of the epiphyses of the 3rd finger Afwijking van de epifysen van de 3e vinger CANDIDATE -en nl HP:0009320 IAO:0000115 Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger NOT_TRANSLATED -en nl HP:0009321 rdfs:label Absent epiphysis of the middle phalanx of the 3rd finger Afwezige epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009321 IAO:0000115 Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009322 rdfs:label Bracket epiphysis of the middle phalanx of the 3rd finger Haakvormige epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009322 IAO:0000115 An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009323 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 3rd finger Kegel-vormige epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009323 IAO:0000115 A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009324 rdfs:label Enlarged epiphysis of the middle phalanx of the 3rd finger Vergrote epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009324 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009325 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 3rd finger Fragmentatie van de epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009325 IAO:0000115 Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009326 rdfs:label Irregular epiphysis of the middle phalanx of the 3rd finger Onregelmatige epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009326 IAO:0000115 Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009327 rdfs:label Ivory epiphysis of the middle phalanx of the 3rd finger Ivoren epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009327 IAO:0000115 Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009328 rdfs:label Pseudoepiphysis of the middle phalanx of the 3rd finger Pseudo-epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009328 IAO:0000115 A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009329 rdfs:label Small epiphysis of the middle phalanx of the 3rd finger Kleine epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009329 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009330 rdfs:label Stippling of the epiphysis of the middle phalanx of the 3rd finger Vlekkerige calcificaties van de epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009330 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009331 rdfs:label Triangular epiphysis of the middle phalanx of the 3rd finger Driehoekige epifyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009331 IAO:0000115 A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009332 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 3rd finger Afwijking van de epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009333 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 3rd finger Afwijking van de epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009334 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 3rd finger Afwijking van de epiphyse van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009335 rdfs:label Absent epiphysis of the distal phalanx of the 3rd finger Afwezige epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009335 IAO:0000115 Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009336 rdfs:label Bracket epiphysis of the distal phalanx of the 3rd finger Haakvormige epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009336 IAO:0000115 An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009337 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 3rd finger Kegel-vormige epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009337 IAO:0000115 A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009338 rdfs:label Enlarged epiphysis of the distal phalanx of the 3rd finger Vergrote epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009338 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009339 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 3rd finger Fragmentatie van de epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009339 IAO:0000115 Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009340 rdfs:label Irregular epiphysis of the distal phalanx of the 3rd finger Irregulaire epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009340 IAO:0000115 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009341 rdfs:label Ivory epiphysis of the distal phalanx of the 3rd finger Ivoren epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009341 IAO:0000115 Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009342 rdfs:label Pseudoepiphysis of the distal phalanx of the 3rd finger Pseudo-epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009342 IAO:0000115 A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009343 rdfs:label Small epiphysis of the distal phalanx of the 3rd finger Kleine epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009343 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009344 rdfs:label Stippling of the epiphysis of the distal phalanx of the 3rd finger Vlekkerige calcificaties van de epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009344 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009345 rdfs:label Triangular epiphysis of the distal phalanx of the 3rd finger Driehoekige epifyse van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009345 IAO:0000115 A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009346 rdfs:label Absent epiphysis of the proximal phalanx of the 3rd finger Afwezig epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009346 IAO:0000115 Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009347 rdfs:label Bracket epiphysis of the proximal phalanx of the 3rd finger Haakvormige epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009347 IAO:0000115 An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009348 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 3rd finger Kegel-vormige epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009348 IAO:0000115 A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009349 rdfs:label Enlarged epiphysis of the proximal phalanx of the 3rd finger Vergrote epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009349 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009350 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger Fragmentatie van de epifyse van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0009350 IAO:0000115 Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009351 rdfs:label Irregular epiphysis of the proximal phalanx of the 3rd finger Onregelmatige epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009351 IAO:0000115 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009352 rdfs:label Ivory epiphysis of the proximal phalanx of the 3rd finger Ivoren epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009352 IAO:0000115 Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009353 rdfs:label Pseudoepiphysis of the proximal phalanx of the 3rd finger Pseudo-epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009353 IAO:0000115 A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009354 rdfs:label Small epiphysis of the proximal phalanx of the 3rd finger Kleine epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009354 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009355 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 3rd finger Vlekkerige calcificaties van de epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009355 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009356 rdfs:label Triangular epiphysis of the proximal phalanx of the 3rd finger Driehoekige epifyse van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009356 IAO:0000115 A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009357 rdfs:label Abnormality of the distal phalanx of the 3rd finger Afwijking van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009358 rdfs:label Abnormality of the proximal phalanx of the 3rd finger Afwijking van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009370 rdfs:label Type A brachydactyly Type A brachydactylie CANDIDATE -en nl HP:0009371 rdfs:label Type A1 brachydactyly Type A1 brachydactylie CANDIDATE -en nl HP:0009372 rdfs:label Type A2 brachydactyly Type A2 brachydactylie CANDIDATE -en nl HP:0009373 rdfs:label Type C brachydactyly Type C brachydactylie CANDIDATE -en nl HP:0009374 rdfs:label Broad phalanges of the 5th finger Brede falangen van de 5e vinger CANDIDATE -en nl HP:0009374 IAO:0000115 Increased width of the phalanges of the 5th finger Increased width of the phalanges of the 5th finger NOT_TRANSLATED -en nl HP:0009375 rdfs:label Bullet-shaped phalanges of the 5th finger Kogel-vormige falangen van de 5e vinger CANDIDATE -en nl HP:0009375 IAO:0000115 A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009376 rdfs:label Aplasia/Hypoplasia of the phalanges of the 5th finger Aplasie/Hypoplasie van de falangen van de 5e vinger CANDIDATE -en nl HP:0009376 IAO:0000115 Aplasia/Hypoplasia of the phalanges of the 5th finger Aplasia/Hypoplasia of the phalanges of the 5th finger NOT_TRANSLATED -en nl HP:0009377 rdfs:label Patchy sclerosis of 5th finger phalanx Fragmentarische sclerose van falanx van de 5e vinger CANDIDATE -en nl HP:0009377 IAO:0000115 Uneven increase in bone density of one or more of the phalanges of the 5th finger Uneven increase in bone density of one or more of the phalanges of the 5th finger NOT_TRANSLATED -en nl HP:0009378 rdfs:label Triangular shaped phalanges of the 5th finger Driehoekige falangen van de 5e vinger CANDIDATE -en nl HP:0009378 IAO:0000115 Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009379 rdfs:label Rhomboid or triangular shaped 5th finger distal phalanx Parallellogram- of driehoekig-vormige distale falanx van 5e vinger CANDIDATE -en nl HP:0009379 IAO:0000115 Rhomboid or triangular shaped 5th (little) finger distal phalanx Rhomboid or triangular shaped 5th (little) finger distal phalanx NOT_TRANSLATED -en nl HP:0009380 rdfs:label Aplasia of the fingers Aplasie van de vingers CANDIDATE -en nl HP:0009380 IAO:0000115 Aplasia of one or more fingers Aplasia of one or more fingers NOT_TRANSLATED -en nl HP:0009381 rdfs:label Short finger Korte vinger CANDIDATE -en nl HP:0009381 IAO:0000115 Abnormally short finger associated with developmental hypoplasia Abnormally short finger associated with developmental hypoplasia NOT_TRANSLATED -en nl HP:0009382 rdfs:label Absent epiphyses of the 5th finger Afwezig epifyses van de 5e vinger CANDIDATE -en nl HP:0009382 IAO:0000115 Absence of one or more epiphyses of the 5th finger Absence of one or more epiphyses of the 5th finger NOT_TRANSLATED -en nl HP:0009383 rdfs:label Bracket epiphyses of the 5th finger Haakvormige epifysen van de 5e vinger CANDIDATE -en nl HP:0009383 IAO:0000115 An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009384 rdfs:label Cone-shaped epiphyses of the 5th finger Kegel-vormige epifyses van de 5e vinger CANDIDATE -en nl HP:0009384 IAO:0000115 A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED -en nl HP:0009385 rdfs:label Enlarged epiphyses of the 5th finger Vergrote epifysen van de 5e vinger CANDIDATE -en nl HP:0009385 IAO:0000115 Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009386 rdfs:label Fragmentation of the epiphyses of the 5th finger Fragmentatie van de epifysen van de 5e vinger CANDIDATE -en nl HP:0009386 IAO:0000115 Fragmented appearance of the epiphyses of the 5th finger Fragmented appearance of the epiphyses of the 5th finger NOT_TRANSLATED -en nl HP:0009387 rdfs:label Irregular epiphyses of the 5th finger Irregulaire epifysen van de 5e vinger CANDIDATE -en nl HP:0009387 IAO:0000115 Irregular radiographic opacity of the epiphyses of the 5th finger Irregular radiographic opacity of the epiphyses of the 5th finger NOT_TRANSLATED -en nl HP:0009388 rdfs:label Ivory epiphyses of the 5th finger Ivoren epifysen van de 5e vinger CANDIDATE -en nl HP:0009388 IAO:0000115 Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009389 rdfs:label Pseudoepiphyses of the 5th finger Pseudo-epifysen van de 5e vinger CANDIDATE -en nl HP:0009389 IAO:0000115 A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009390 rdfs:label Small epiphyses of the 5th finger Kleine epifysen van de 5e vinger CANDIDATE -en nl HP:0009390 IAO:0000115 Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009391 rdfs:label Stippling of the epiphyses of the 5th finger Vlekkerige calcificaties van de epifysen van de 5e vinger CANDIDATE -en nl HP:0009391 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger NOT_TRANSLATED -en nl HP:0009392 rdfs:label Triangular epiphyses of the 5th finger Driehoekige epifysen van de 5e vinger CANDIDATE -en nl HP:0009392 IAO:0000115 A triangular appearance of the epiphyses of the 5th finger of the hand A triangular appearance of the epiphyses of the 5th finger of the hand NOT_TRANSLATED -en nl HP:0009393 rdfs:label Absent epiphyses of the 4th finger Afwezig epifysen van de 4e vinger CANDIDATE -en nl HP:0009393 IAO:0000115 Absence of one or more epiphyses of the 4th finger Absence of one or more epiphyses of the 4th finger NOT_TRANSLATED -en nl HP:0009394 rdfs:label Bracket epiphyses of the 4th finger Haakvormige epifysen van de 4e vinger CANDIDATE -en nl HP:0009394 IAO:0000115 An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009395 rdfs:label Cone-shaped epiphyses of the 4th finger Kegel-vormige epifyses van de 4e vinger CANDIDATE -en nl HP:0009395 IAO:0000115 A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED -en nl HP:0009396 rdfs:label Enlarged epiphyses of the 4th finger Vergrote epifysen van de 4e vinger CANDIDATE -en nl HP:0009396 IAO:0000115 Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009397 rdfs:label Fragmentation of the epiphyses of the 4th finger Fragmentatie van de epifysen van de 4e vinger CANDIDATE -en nl HP:0009397 IAO:0000115 Fragmented appearance of the epiphyses of the 4th finger Fragmented appearance of the epiphyses of the 4th finger NOT_TRANSLATED -en nl HP:0009398 rdfs:label Irregular epiphyses of the 4th finger Irregulaire epifysen van de 4e vinger CANDIDATE -en nl HP:0009398 IAO:0000115 Irregular radiographic opacity of the epiphyses of the 4th finger Irregular radiographic opacity of the epiphyses of the 4th finger NOT_TRANSLATED -en nl HP:0009399 rdfs:label Ivory epiphyses of the 4th finger Ivoren epifysen van de 4e vinger CANDIDATE -en nl HP:0009399 IAO:0000115 Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009400 rdfs:label Pseudoepiphyses of the 4th finger Pseudo-epifysen van de 4e vinger CANDIDATE -en nl HP:0009400 IAO:0000115 A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009401 rdfs:label Small epiphyses of the 4th finger Kleine epifysen van de 4e vinger CANDIDATE -en nl HP:0009401 IAO:0000115 Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009402 rdfs:label Stippling of the epiphyses of the 4th finger Vlekkerige calcificaties van de epifysen van de 4e vinger CANDIDATE -en nl HP:0009402 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger NOT_TRANSLATED -en nl HP:0009403 rdfs:label Triangular epiphyses of the 4th finger Driehoekige epifysen van de 4e vinger CANDIDATE -en nl HP:0009403 IAO:0000115 A triangular appearance of the epiphyses of the 4th finger of the hand A triangular appearance of the epiphyses of the 4th finger of the hand NOT_TRANSLATED -en nl HP:0009404 rdfs:label Broad phalanges of the 4th finger Brede falangen van de 4e vinger CANDIDATE -en nl HP:0009404 IAO:0000115 Increased width of the phalanges of the 4th finger Increased width of the phalanges of the 4th finger NOT_TRANSLATED -en nl HP:0009405 rdfs:label Bullet-shaped phalanges of the 4th finger Kogel-vormige falangen van de 4e vinger CANDIDATE -en nl HP:0009405 IAO:0000115 A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009406 rdfs:label Patchy sclerosis of 4th finger phalanx Fragmentarische sclerose van falanx van de 4e vinger CANDIDATE -en nl HP:0009406 IAO:0000115 Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger NOT_TRANSLATED -en nl HP:0009407 rdfs:label Triangular shaped phalanges of the 4th finger Driehoekige falangen van de 4e vinger CANDIDATE -en nl HP:0009407 IAO:0000115 Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009408 rdfs:label Aplasia/Hypoplasia of the phalanges of the 4th finger Aplasie/Hypoplasie van de falangen van de 4e vinger CANDIDATE -en nl HP:0009410 rdfs:label Absent epiphyses of the 3rd finger Afwezig epifyses van de 3e vinger CANDIDATE -en nl HP:0009410 IAO:0000115 Absence of the epiphyses of the 3rd finger Absence of the epiphyses of the 3rd finger NOT_TRANSLATED -en nl HP:0009411 rdfs:label Bracket epiphyses of the 3rd finger Haakvormige epifysen van de 3e vinger CANDIDATE -en nl HP:0009411 IAO:0000115 An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009412 rdfs:label Cone-shaped epiphyses of the 3rd finger Kegel-vormige epifyses van de 3e vinger CANDIDATE -en nl HP:0009412 IAO:0000115 A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED -en nl HP:0009413 rdfs:label Enlarged epiphyses of the 3rd finger Vergrote epifysen van de 3e vinger CANDIDATE -en nl HP:0009413 IAO:0000115 Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009414 rdfs:label Fragmentation of the epiphyses of the 3rd finger Fragmentatie van de epifysen van de 3e vinger CANDIDATE -en nl HP:0009414 IAO:0000115 Fragmented appearance of the epiphyses of the 3rd finger Fragmented appearance of the epiphyses of the 3rd finger NOT_TRANSLATED -en nl HP:0009415 rdfs:label Irregular epiphyses of the 3rd finger Irregulaire epifysen van de 3e vinger CANDIDATE -en nl HP:0009415 IAO:0000115 Irregular radiographic opacity of the epiphyses of the 3rd finger Irregular radiographic opacity of the epiphyses of the 3rd finger NOT_TRANSLATED -en nl HP:0009416 rdfs:label Ivory epiphyses of the 3rd finger Ivoren epifysen van de 3e vinger CANDIDATE -en nl HP:0009416 IAO:0000115 Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009417 rdfs:label Pseudoepiphyses of the 3rd finger Pseudo-epifysen van de 3e vinger CANDIDATE -en nl HP:0009417 IAO:0000115 A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009418 rdfs:label Small epiphyses of the 3rd finger Kleine epifysen van de 3e vinger CANDIDATE -en nl HP:0009418 IAO:0000115 Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009419 rdfs:label Stippling of the epiphyses of the 3rd finger Vlekkerige calcificaties van de epifysen van de 3e vinger CANDIDATE -en nl HP:0009419 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger NOT_TRANSLATED -en nl HP:0009420 rdfs:label Triangular epiphyses of the 3rd finger Driehoekige epifysen van de 3e vinger CANDIDATE -en nl HP:0009420 IAO:0000115 A triangular appearance of the epiphyses of the 3rd finger of the hand A triangular appearance of the epiphyses of the 3rd finger of the hand NOT_TRANSLATED -en nl HP:0009421 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 3rd finger Aplasie/hypoplasie van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009422 rdfs:label Broad distal phalanx of the 3rd finger Brede distale falanx van de 3e vinger CANDIDATE -en nl HP:0009422 IAO:0000115 Increased width of the distal phalanx of the 3rd finger Increased width of the distal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009423 rdfs:label Bullet-shaped distal phalanx of the 3rd finger Kogel-vormige distale falanx van de 3e vinger CANDIDATE -en nl HP:0009423 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected NOT_TRANSLATED -en nl HP:0009424 rdfs:label Osteolytic defects of the distal phalanx of the 3rd finger Osteolytisch defect van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009424 IAO:0000115 Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009425 rdfs:label Patchy sclerosis of the distal phalanx of the 3rd finger Fragmentarische sclerose van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009425 IAO:0000115 Uneven (irregular) increase in bone density of the distal phalanx of the third finger Uneven (irregular) increase in bone density of the distal phalanx of the third finger NOT_TRANSLATED -en nl HP:0009426 rdfs:label Distal/middle symphalangism of 3rd finger Symfalangisme van het distale/middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009426 IAO:0000115 Fusion of the terminal/distal and middle phalanges of the 3rd finger Fusion of the terminal/distal and middle phalanges of the 3rd finger NOT_TRANSLATED -en nl HP:0009427 rdfs:label Triangular shaped distal phalanx of the 3rd finger Driehoekige distale falanx van de 3e vinger CANDIDATE -en nl HP:0009427 IAO:0000115 Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009428 rdfs:label Curved distal phalanx of the 3rd finger Gebogen distale falanx van de 3e vinger CANDIDATE -en nl HP:0009428 IAO:0000115 Curved appearance of the distal phalanx of the 3rd finger Curved appearance of the distal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009429 rdfs:label Aplasia of the distal phalanx of the 3rd finger Aplasie van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009429 IAO:0000115 Absence of the distal phalanx of the middle (3rd) finger Absence of the distal phalanx of the middle (3rd) finger NOT_TRANSLATED -en nl HP:0009430 rdfs:label Broad middle phalanx of the 3rd finger Brede middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009430 IAO:0000115 Increased width of the middle phalanx of the 3rd finger Increased width of the middle phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009431 rdfs:label Bullet-shaped middle phalanx of the 3rd finger Kogel-vormige middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009431 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected NOT_TRANSLATED -en nl HP:0009432 rdfs:label Curved middle phalanx of the 3rd finger Gebogen middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009432 IAO:0000115 Curved appearance of the middle phalanx of the 3rd (middle) finger Curved appearance of the middle phalanx of the 3rd (middle) finger NOT_TRANSLATED -en nl HP:0009433 rdfs:label Osteolytic defects of the middle phalanx of the 3rd finger Osteolytische defecten van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009433 IAO:0000115 Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009434 rdfs:label Patchy sclerosis of the middle phalanx of the 3rd finger Fragmentarische sclerose van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009434 IAO:0000115 Uneven (irregular) increase in bone density of the middle phalanx of the third finger Uneven (irregular) increase in bone density of the middle phalanx of the third finger NOT_TRANSLATED -en nl HP:0009435 rdfs:label Symphalangism of middle phalanx of 3rd finger Symfalangisme van middelste falanx van 3e vinger CANDIDATE -en nl HP:0009435 IAO:0000115 Fusion of the middle phalanx of the 3rd finger with another bone Fusion of the middle phalanx of the 3rd finger with another bone NOT_TRANSLATED -en nl HP:0009436 rdfs:label Triangular shaped middle phalanx of the 3rd finger Driehoekige middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009436 IAO:0000115 Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009437 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 3rd finger Aplasie/hypoplasie van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009438 rdfs:label Absent middle phalanx of 3rd finger Afwezige middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009438 IAO:0000115 Absence of the middle phalanx of the middle (3rd) finger Absence of the middle phalanx of the middle (3rd) finger NOT_TRANSLATED -en nl HP:0009439 rdfs:label Short middle phalanx of the 3rd finger Korte middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009439 IAO:0000115 Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger NOT_TRANSLATED -en nl HP:0009440 rdfs:label Broad phalanges of the 3rd finger Brede falangen van de 3e vinger CANDIDATE -en nl HP:0009440 IAO:0000115 Increased width of the phalanges of the 3rd finger Increased width of the phalanges of the 3rd finger NOT_TRANSLATED -en nl HP:0009441 rdfs:label Bullet-shaped phalanges of the 3rd finger Kogel-vormige falangen van de 3e vinger CANDIDATE -en nl HP:0009441 IAO:0000115 A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009442 rdfs:label Curved phalanges of the 3rd finger Gebogen falangen van de 3e vinger CANDIDATE -en nl HP:0009442 IAO:0000115 Curved appearance of the phalanges of the 3rd finger Curved appearance of the phalanges of the 3rd finger NOT_TRANSLATED -en nl HP:0009443 rdfs:label Osteolytic defects of the phalanges of the 3rd finger Osteolytische defecten van de falangen van de 3e vinger CANDIDATE -en nl HP:0009443 IAO:0000115 Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger NOT_TRANSLATED -en nl HP:0009444 rdfs:label Patchy sclerosis of 3rd finger phalanx Fragmentarische sclerose van falanx van de 3e vinger CANDIDATE -en nl HP:0009444 IAO:0000115 Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger NOT_TRANSLATED -en nl HP:0009445 rdfs:label Symphalangism of the 3rd finger Symfalangisme van de 3e vinger CANDIDATE -en nl HP:0009445 IAO:0000115 Fusion of two or more bones of the 3rd finger Fusion of two or more bones of the 3rd finger NOT_TRANSLATED -en nl HP:0009446 rdfs:label Triangular shaped phalanges of the 3rd finger Driehoekige falangen van de 3e vinger CANDIDATE -en nl HP:0009446 IAO:0000115 Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009447 rdfs:label Aplasia/Hypoplasia of the phalanges of the 3rd finger Aplasie/Hypoplasie van de falangen van de 3e vinger CANDIDATE -en nl HP:0009450 rdfs:label Broad proximal phalanx of the 3rd finger Breed proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009450 IAO:0000115 Increased width of the proximal phalanx of the 3rd finger Increased width of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009451 rdfs:label Bullet-shaped proximal phalanx of the 3rd finger Kogel-vormige proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009451 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected NOT_TRANSLATED -en nl HP:0009452 rdfs:label Curved proximal phalanx of the 3rd finger Breed proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009452 IAO:0000115 Curved appearance of the proximal phalanx of the 3rd finger Curved appearance of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009453 rdfs:label Osteolytic defects of the proximal phalanx of the 3rd finger Osteolytische defecten van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009453 IAO:0000115 Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009454 rdfs:label Patchy sclerosis of the proximal phalanx of the 3rd finger Fragmentarische sclerose van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009454 IAO:0000115 Uneven (irregular) increase in bone density of the proximal phalanx of the third finger Uneven (irregular) increase in bone density of the proximal phalanx of the third finger NOT_TRANSLATED -en nl HP:0009455 rdfs:label Symphalangism affecting the proximal phalanx of the 3rd finger Symfalangisme van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009455 IAO:0000115 Fusion of the proximal phalanx of the 3rd finger with another bone Fusion of the proximal phalanx of the 3rd finger with another bone NOT_TRANSLATED -en nl HP:0009456 rdfs:label Triangular shaped proximal phalanx of the 3rd finger Driehoekige proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009456 IAO:0000115 Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009457 rdfs:label Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger Aplasie/Hypoplasie van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009458 rdfs:label Aplasia of the proximal phalanx of the 3rd finger Aplasie van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009458 IAO:0000115 Absence of the proximal phalanx of the 3rd finger Absence of the proximal phalanx of the 3rd finger NOT_TRANSLATED -en nl HP:0009459 rdfs:label Short proximal phalanx of the 3rd finger Korte proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009459 IAO:0000115 Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger NOT_TRANSLATED -en nl HP:0009460 rdfs:label Aplasia of the 3rd finger Aplasie van 3e vinger CANDIDATE -en nl HP:0009460 IAO:0000115 Absent 3rd finger Absent 3rd finger NOT_TRANSLATED -en nl HP:0009461 rdfs:label Short 3rd finger Korte 3e vinger CANDIDATE -en nl HP:0009461 IAO:0000115 Hypoplastic/small 3rd (middle) finger Hypoplastic/small 3rd (middle) finger NOT_TRANSLATED -en nl HP:0009462 rdfs:label Radial deviation of the 3rd finger Radiale deviatie van de 3e vinger CANDIDATE -en nl HP:0009462 IAO:0000115 Displacement of the 3rd finger towards the radial side (i.e., towards the thumb) Displacement of the 3rd finger towards the radial side (i.e., towards the thumb) NOT_TRANSLATED -en nl HP:0009463 rdfs:label Ulnar deviation of the 3rd finger Ulnaire deviatie van de 3e vinger CANDIDATE -en nl HP:0009463 IAO:0000115 Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger) Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger) NOT_TRANSLATED -en nl HP:0009464 rdfs:label Ulnar deviation of the 2nd finger Ulnaire deviatie van de 2e vinger CANDIDATE -en nl HP:0009464 IAO:0000115 Displacement of the 2nd (index) finger towards the ulnar side Displacement of the 2nd (index) finger towards the ulnar side NOT_TRANSLATED -en nl HP:0009465 rdfs:label Ulnar deviation of finger Ulnaire deviatie van vinger CANDIDATE -en nl HP:0009465 IAO:0000115 Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly NOT_TRANSLATED -en nl HP:0009466 rdfs:label Radial deviation of finger Radiale deviatie van vinger CANDIDATE -en nl HP:0009466 IAO:0000115 Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly NOT_TRANSLATED -en nl HP:0009467 rdfs:label Radial deviation of the 2nd finger Radiale deviatie van de 2e vinger CANDIDATE -en nl HP:0009467 IAO:0000115 Displacement of the 2nd finger towards the radial side Displacement of the 2nd finger towards the radial side NOT_TRANSLATED -en nl HP:0009468 rdfs:label Deviation of the 2nd finger Deviatie van de 2e vinger CANDIDATE -en nl HP:0009468 IAO:0000115 Displacement of the 2nd finger from its normal position Displacement of the 2nd finger from its normal position NOT_TRANSLATED -en nl HP:0009469 rdfs:label Contracture of the distal interphalangeal joint of the 3rd finger Contractuur van het distale interfalangeale gewricht van de 3e vinger CANDIDATE -en nl HP:0009469 IAO:0000115 Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009470 rdfs:label Contracture of the metacarpophalangeal joint of the 3rd finger Contractuur van het metacarpofalangeale gewricht van de 3e vinger CANDIDATE -en nl HP:0009470 IAO:0000115 Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009471 rdfs:label Contracture of the proximal interphalangeal joint of the 3rd finger Contractuur van het proximale interfalangeale gewricht van de 3e vinger CANDIDATE -en nl HP:0009471 IAO:0000115 Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009473 rdfs:label Joint contracture of the hand Gewrichtscontractuur van de hand CANDIDATE -en nl HP:0009473 IAO:0000115 Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009477 rdfs:label Proximal/middle symphalangism of 4th finger Symfalangisme van het proximale/middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009477 IAO:0000115 Fusion of the proximal and middle phalanges of the 4th finger Fusion of the proximal and middle phalanges of the 4th finger NOT_TRANSLATED -en nl HP:0009478 rdfs:label Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal Symfalangisme van de proximale falanx van de 4e vinger met de 4e metacarpaal CANDIDATE -en nl HP:0009478 IAO:0000115 Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal NOT_TRANSLATED -en nl HP:0009482 rdfs:label Proximal/middle symphalangism of 3rd finger Symfalangisme van het proximale/middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009482 IAO:0000115 Fusion of the proximal and middle phalanges of the 3rd finger Fusion of the proximal and middle phalanges of the 3rd finger NOT_TRANSLATED -en nl HP:0009483 rdfs:label Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal Symfalangisme van de proximale falanx van de 3e vinger met de 3e metacarpaal CANDIDATE -en nl HP:0009483 IAO:0000115 Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal NOT_TRANSLATED -en nl HP:0009484 rdfs:label Deviation of the hand or of fingers of the hand Deviatie van de hand of vingers van de hand CANDIDATE -en nl HP:0009484 IAO:0000115 Displacement of the hand or of fingers of the hand from their normal position Displacement of the hand or of fingers of the hand from their normal position NOT_TRANSLATED -en nl HP:0009485 rdfs:label Radial deviation of the hand or of fingers of the hand Radiale deviatie van de hand of vingers van de hand CANDIDATE -en nl HP:0009486 rdfs:label Radial deviation of the hand Radiale deviatie van de hand CANDIDATE -en nl HP:0009486 IAO:0000115 An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb) An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb) NOT_TRANSLATED -en nl HP:0009487 rdfs:label Ulnar deviation of the hand Ulnaire deviatie van de hand CANDIDATE -en nl HP:0009487 IAO:0000115 Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger) Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger) NOT_TRANSLATED -en nl HP:0009488 rdfs:label Absent epiphyses of the 2nd finger Afwezige epifysen van de 2e vinger CANDIDATE -en nl HP:0009488 IAO:0000115 Absence of the epiphyses of the 2nd finger Absence of the epiphyses of the 2nd finger NOT_TRANSLATED -en nl HP:0009489 rdfs:label Bracket epiphyses of the 2nd finger Haakvormige epifysen van de 2e vinger CANDIDATE -en nl HP:0009489 IAO:0000115 An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009490 rdfs:label Cone-shaped epiphyses of the 2nd finger Kegel-vormige epifyses van de 2e vinger CANDIDATE -en nl HP:0009490 IAO:0000115 A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED -en nl HP:0009491 rdfs:label Enlarged epiphyses of the 2nd finger Vergrote epifysen van de 2e vinger CANDIDATE -en nl HP:0009491 IAO:0000115 Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009492 rdfs:label Fragmentation of the epiphyses of the 2nd finger Fragmentatie van de epifysen van de 2e vinger CANDIDATE -en nl HP:0009492 IAO:0000115 Fragmented appearance of the epiphyses of the 2nd finger Fragmented appearance of the epiphyses of the 2nd finger NOT_TRANSLATED -en nl HP:0009493 rdfs:label Irregular epiphyses of the 2nd finger Irregulaire epifysen van de 2e vinger CANDIDATE -en nl HP:0009493 IAO:0000115 Irregular radiographic opacity of the epiphyses of the 2nd finger Irregular radiographic opacity of the epiphyses of the 2nd finger NOT_TRANSLATED -en nl HP:0009494 rdfs:label Ivory epiphyses of the 2nd finger Ivoren epifysen van de 2e vinger CANDIDATE -en nl HP:0009494 IAO:0000115 Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009495 rdfs:label Pseudoepiphysis of the 2nd finger Pseudo-epifysen van de 2e vinger CANDIDATE -en nl HP:0009495 IAO:0000115 A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009496 rdfs:label Small epiphyses of the 2nd finger Kleine epifysen van de 2e vinger CANDIDATE -en nl HP:0009496 IAO:0000115 Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009497 rdfs:label Stippling of the epiphyses of the 2nd finger Vlekkerige calcificaties van de epifysen van de 2e vinger CANDIDATE -en nl HP:0009497 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger NOT_TRANSLATED -en nl HP:0009498 rdfs:label Triangular epiphyses of the 2nd finger Driehoekige epifysen van de 2e vinger CANDIDATE -en nl HP:0009498 IAO:0000115 A triangular appearance of the epiphyses of the 2nd finger of the hand A triangular appearance of the epiphyses of the 2nd finger of the hand NOT_TRANSLATED -en nl HP:0009499 rdfs:label Abnormality of the epiphysis of the distal phalanx of the 2nd finger Afwijking van de epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009500 rdfs:label Abnormality of the epiphysis of the middle phalanx of the 2nd finger Afwijking van de epiphyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009501 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the 2nd finger Afwijking van de epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009502 rdfs:label Absent epiphysis of the distal phalanx of the 2nd finger Afwezige epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009502 IAO:0000115 Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009503 rdfs:label Bracket epiphysis of the distal phalanx of the 2nd finger Haakvormige epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009503 IAO:0000115 An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009504 rdfs:label Cone-shaped epiphysis of the distal phalanx of the 2nd finger Kegel-vormige epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009504 IAO:0000115 A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009505 rdfs:label Enlarged epiphysis of the distal phalanx of the 2nd finger Vergrote epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009505 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009506 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the 2nd finger Fragmentatie van de epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009506 IAO:0000115 Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009507 rdfs:label Irregular epiphysis of the distal phalanx of the 2nd finger Irregulaire epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009507 IAO:0000115 Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009508 rdfs:label Ivory epiphysis of the distal phalanx of the 2nd finger Ivoren epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009508 IAO:0000115 Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009509 rdfs:label Pseudoepiphysis of the distal phalanx of the 2nd finger Pseudo-epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009509 IAO:0000115 A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009510 rdfs:label Small epiphysis of the distal phalanx of the 2nd finger Kleine epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009510 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009511 rdfs:label Stippling of the epiphysis of the distal phalanx of the 2nd finger Vlekkerige calcificaties van de epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009511 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009512 rdfs:label Triangular epiphysis of the distal phalanx of the 2nd finger Driehoekige epifyse van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009512 IAO:0000115 A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009513 rdfs:label Absent epiphysis of the middle phalanx of the 2nd finger Afwezige epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009514 rdfs:label Bracket epiphysis of the middle phalanx of the 2nd finger Haakvormige epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009514 IAO:0000115 An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009515 rdfs:label Cone-shaped epiphysis of the middle phalanx of the 2nd finger Kegel-vormige epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009516 rdfs:label Enlarged epiphysis of the middle phalanx of the 2nd finger Vergrote epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009517 rdfs:label Fragmentation of the epiphysis of the middle phalanx of the 2nd finger Fragmentatie van de epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009518 rdfs:label Irregular epiphysis of the middle phalanx of the 2nd finger Onregelmatige epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009519 rdfs:label Ivory epiphysis of the middle phalanx of the 2nd finger Ivoren epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009520 rdfs:label Pseudoepiphysis of the middle phalanx of the 2nd finger Pseudo-epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009520 IAO:0000115 A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009521 rdfs:label Small epiphysis of the middle phalanx of the 2nd finger Kleine epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009522 rdfs:label Stippling of the epiphysis of the middle phalanx of the 2nd finger Vlekkerige calcificaties van de epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009523 rdfs:label Triangular epiphysis of the middle phalanx of the 2nd finger Driehoekige epifyse van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009524 rdfs:label Absent epiphysis of the proximal phalanx of the 2nd finger Afwezig epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009525 rdfs:label Bracket epiphysis of the proximal phalanx of the 2nd finger Haakvormige epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009525 IAO:0000115 An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009526 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the 2nd finger Kegel-vormige epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009527 rdfs:label Enlarged epiphysis of the proximal phalanx of the 2nd finger Vergrote epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009528 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger Fragmentatie van de epifyse van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0009529 rdfs:label Irregular epiphysis of the proximal phalanx of the 2nd finger Onregelmatige epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009530 rdfs:label Ivory epiphysis of the proximal phalanx of the 2nd finger Ivoren epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009531 rdfs:label Pseudoepiphysis of the proximal phalanx of the 2nd finger Pseudo-epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009531 IAO:0000115 A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0009532 rdfs:label Small epiphysis of the proximal phalanx of the 2nd finger Kleine epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009533 rdfs:label Stippling of the epiphysis of the proximal phalanx of the 2nd finger Vlekkerige calcificaties van de epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009534 rdfs:label Triangular epiphysis of the proximal phalanx of the 2nd finger Driehoekige epifyse van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009535 rdfs:label Aplasia of the 2nd finger Aplasie van 2e vinger CANDIDATE -en nl HP:0009535 IAO:0000115 Absent 2nd (index) finger Absent 2nd (index) finger NOT_TRANSLATED -en nl HP:0009536 rdfs:label Short 2nd finger Korte tweede vinger CANDIDATE -en nl HP:0009536 IAO:0000115 Hypoplasia of the second finger, also known as the index finger Hypoplasia of the second finger, also known as the index finger NOT_TRANSLATED -en nl HP:0009537 rdfs:label Flexion contracture of the 2nd finger Flexiecontractuur van de 2e vinger CANDIDATE -en nl HP:0009537 IAO:0000115 Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED -en nl HP:0009538 rdfs:label Contracture of the distal interphalangeal joint of the 2nd finger Contractuur van het distale interfalangeale gewricht van de 2e vinger CANDIDATE -en nl HP:0009538 IAO:0000115 Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009539 rdfs:label Contracture of the metacarpophalangeal joint of the 2nd finger Contractuur van het metacarpofalangeale gewricht van de 2e vinger CANDIDATE -en nl HP:0009539 IAO:0000115 Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009540 rdfs:label Contracture of the proximal interphalangeal joint of the 2nd finger Contractuur van het proximale interfalangeale gewricht van de 2e vinger CANDIDATE -en nl HP:0009540 IAO:0000115 Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0009541 rdfs:label Abnormality of the phalanges of the 2nd finger Afwijking van de falangen van de 2e vinger CANDIDATE -en nl HP:0009541 IAO:0000115 Abnormality of the phalanges of the 2nd (index) finger Abnormality of the phalanges of the 2nd (index) finger NOT_TRANSLATED -en nl HP:0009542 rdfs:label Abnormality of the distal phalanx of the 2nd finger Afwijking van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009543 rdfs:label Abnormality of the middle phalanx of the 2nd finger Afwijking van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009544 rdfs:label Abnormality of the proximal phalanx of the 2nd finger Afwijking van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009545 rdfs:label Symphalangism of the 2nd finger Symfalangisme van de 2e vinger CANDIDATE -en nl HP:0009546 rdfs:label Triangular shaped phalanges of the 2nd finger Driehoekige falangen van de 2e vinger CANDIDATE -en nl HP:0009546 IAO:0000115 Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009547 rdfs:label Broad phalanges of the 2nd finger Brede falangen van de 2e vinger CANDIDATE -en nl HP:0009548 rdfs:label Bullet-shaped phalanges of the 2nd finger Kogel-vormige falangen van de 2e vinger CANDIDATE -en nl HP:0009548 IAO:0000115 A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009549 rdfs:label Curved phalanges of the 2nd finger Gebogen falangen van de 2e vinger CANDIDATE -en nl HP:0009550 rdfs:label Osteolytic defects of the phalanges of the 2nd finger Osteolytische defecten van de falangen van de 2e vinger CANDIDATE -en nl HP:0009551 rdfs:label Patchy sclerosis of 2nd finger phalanx Fragmentarische sclerose van falanx van de 2e vinger CANDIDATE -en nl HP:0009551 IAO:0000115 Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger NOT_TRANSLATED -en nl HP:0009552 rdfs:label Aplasia/Hypoplasia of the phalanges of the 2nd finger Aplasie/Hypoplasie van de falangen van de 2e vinger CANDIDATE -en nl HP:0009553 rdfs:label Abnormality of the hairline Afwijking van de haarlijn CANDIDATE -en nl HP:0009553 IAO:0000115 The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair NOT_TRANSLATED -en nl HP:0009554 rdfs:label Preauricular hair displacement Projectie van hoofdhaar op de laterale wang CANDIDATE -en nl HP:0009554 IAO:0000115 An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones NOT_TRANSLATED -en nl HP:0009555 rdfs:label Hypoplasia of the pharynx Hypoplasie van de farynx CANDIDATE -en nl HP:0009555 IAO:0000115 Underdevelopment of the pharynx Underdevelopment of the pharynx NOT_TRANSLATED -en nl HP:0009556 rdfs:label Absent tibia Afwezige tibia CANDIDATE -en nl HP:0009556 IAO:0000115 Absence of the tibia Absence of the tibia NOT_TRANSLATED -en nl HP:0009557 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 2nd finger Aplasie/hypoplasie van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009558 rdfs:label Broad distal phalanx of the 2nd finger Brede distale falanx van de 2e vinger CANDIDATE -en nl HP:0009558 IAO:0000115 Increased width of the distal phalanx of the 2nd finger Increased width of the distal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009559 rdfs:label Bullet-shaped distal phalanx of the 2nd finger Kogel-vormige distale falanx van de 2e vinger CANDIDATE -en nl HP:0009559 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected NOT_TRANSLATED -en nl HP:0009560 rdfs:label Curved distal phalanx of the 2nd finger Gebogen distale falanx van de 2e vinger CANDIDATE -en nl HP:0009560 IAO:0000115 Curved appearance of the distal phalanx of the 2nd finger Curved appearance of the distal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009561 rdfs:label Osteolytic defects of the distal phalanx of the 2nd finger Osteolytische defecten van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009561 IAO:0000115 Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009562 rdfs:label Patchy sclerosis of the distal phalanx of the 2nd finger Fragmentarische sclerose van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009562 IAO:0000115 Uneven (irregular) increase in bone density of the distal phalanx of the second finger Uneven (irregular) increase in bone density of the distal phalanx of the second finger NOT_TRANSLATED -en nl HP:0009563 rdfs:label Distal/middle symphalangism of 2nd finger Symfalangisme van het distale/middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009563 IAO:0000115 Fusion of the terminal/distal and middle phalanges of the 2nd finger Fusion of the terminal/distal and middle phalanges of the 2nd finger NOT_TRANSLATED -en nl HP:0009564 rdfs:label Triangular shaped distal phalanx of the 2nd finger Driehoekige distale falanx van de 2e vinger CANDIDATE -en nl HP:0009564 IAO:0000115 Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009565 rdfs:label Aplasia of the distal phalanx of the 2nd finger Aplasie van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009566 rdfs:label Short distal phalanx of the 2nd finger Korte distale falanx van de 2e vinger CANDIDATE -en nl HP:0009566 IAO:0000115 Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger NOT_TRANSLATED -en nl HP:0009568 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Aplasie/hypoplasie van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009569 rdfs:label Broad middle phalanx of the 2nd finger Brede middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009569 IAO:0000115 Increased width of the middle phalanx of the second finger Increased width of the middle phalanx of the second finger NOT_TRANSLATED -en nl HP:0009570 rdfs:label Bullet-shaped middle phalanx of the 2nd finger Kogel-vormige middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009570 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected NOT_TRANSLATED -en nl HP:0009571 rdfs:label Curved middle phalanx of the 2nd finger Gebogen middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009571 IAO:0000115 Curved appearance of the middle phalanx of the 2nd finger Curved appearance of the middle phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009572 rdfs:label Osteolytic defects of the middle phalanx of the 2nd finger Osteolytische defecten van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009572 IAO:0000115 Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009573 rdfs:label Patchy sclerosis of the middle phalanx of the 2nd finger Fragmentarische sclerose van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009573 IAO:0000115 Uneven (irregular) increase in bone density of the middle phalanx of the second finger Uneven (irregular) increase in bone density of the middle phalanx of the second finger NOT_TRANSLATED -en nl HP:0009574 rdfs:label Symphalangism of middle phalanx of 2nd finger Symfalangisme van middelste falanx van 2e vinger CANDIDATE -en nl HP:0009574 IAO:0000115 Fusion of the middle phalanx of the 2nd finger with another bone Fusion of the middle phalanx of the 2nd finger with another bone NOT_TRANSLATED -en nl HP:0009575 rdfs:label Triangular shaped middle phalanx of the 2nd finger Driehoekige middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009575 IAO:0000115 Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009576 rdfs:label Absent middle phalanx of 2nd finger Afwezige middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009576 IAO:0000115 Absence of the middle phalanx of the index (2nd) finger Absence of the middle phalanx of the index (2nd) finger NOT_TRANSLATED -en nl HP:0009577 rdfs:label Short middle phalanx of the 2nd finger Korte middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009577 IAO:0000115 Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger NOT_TRANSLATED -en nl HP:0009579 rdfs:label Proximal/middle symphalangism of the 2nd finger Symfalangisme van het proximale/middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009579 IAO:0000115 Fusion of the proximal and middle phalanges of the 2nd finger Fusion of the proximal and middle phalanges of the 2nd finger NOT_TRANSLATED -en nl HP:0009580 rdfs:label Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger Aplasie/Hypoplasie van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009581 rdfs:label Broad proximal phalanx of the 2nd finger Breed proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009581 IAO:0000115 Increased width of the proximal phalanx of the 2nd finger Increased width of the proximal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009582 rdfs:label Bullet-shaped proximal phalanx of the 2nd finger Kogel-vormige proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009582 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected NOT_TRANSLATED -en nl HP:0009583 rdfs:label Curved proximal phalanx of the 2nd finger Breed proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009583 IAO:0000115 Curved appearance of the proximal phalanx of the 2nd finger Curved appearance of the proximal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009584 rdfs:label Osteolytic defects of the proximal phalanx of the 2nd finger Osteolytische defecten van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009584 IAO:0000115 Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009585 rdfs:label Patchy sclerosis of the proximal phalanx of the 2nd finger Fragmentarische sclerose van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009585 IAO:0000115 Uneven (irregular) increase in bone density of the proximal phalanx of the second finger Uneven (irregular) increase in bone density of the proximal phalanx of the second finger NOT_TRANSLATED -en nl HP:0009586 rdfs:label Symphalangism affecting the proximal phalanx of the 2nd finger Symfalangisme van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009586 IAO:0000115 Fusion of the proximal phalanx of the 2nd finger with another bone Fusion of the proximal phalanx of the 2nd finger with another bone NOT_TRANSLATED -en nl HP:0009587 rdfs:label Triangular shaped proximal phalanx of the 2nd finger Driehoekige proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009587 IAO:0000115 Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009588 rdfs:label Vestibular schwannoma Vestibulair schwannoom CANDIDATE -en nl HP:0009588 IAO:0000115 A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear NOT_TRANSLATED -en nl HP:0009589 rdfs:label Bilateral vestibular schwannoma Bilateraal vestibulair schwannoom CANDIDATE -en nl HP:0009589 IAO:0000115 A bilateral vestibular Schwannoma (acoustic neurinoma) A bilateral vestibular Schwannoma (acoustic neurinoma) NOT_TRANSLATED -en nl HP:0009590 rdfs:label Unilateral vestibular schwannoma Unilateraal vestibulair schwannoom CANDIDATE -en nl HP:0009590 IAO:0000115 A unilateral vestibular Schwannoma (acoustic neurinoma) A unilateral vestibular Schwannoma (acoustic neurinoma) NOT_TRANSLATED -en nl HP:0009591 rdfs:label Abnormality of the vestibulocochlear nerve Afwijking van de nervus vestibulocochlearis CANDIDATE -en nl HP:0009591 IAO:0000115 Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain NOT_TRANSLATED -en nl HP:0009592 rdfs:label Astrocytoma Astrocytoom CANDIDATE -en nl HP:0009592 IAO:0000115 Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma NOT_TRANSLATED -en nl HP:0009593 rdfs:label Peripheral Schwannoma Perifeer schwannoom CANDIDATE -en nl HP:0009593 IAO:0000115 The presence of a peripheral schwannoma The presence of a peripheral schwannoma NOT_TRANSLATED -en nl HP:0009594 rdfs:label Retinal hamartoma Retinaal hamartoom CANDIDATE -en nl HP:0009594 IAO:0000115 A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina NOT_TRANSLATED -en nl HP:0009595 rdfs:label Occasional neurofibromas Occasionele neurofibromen CANDIDATE -en nl HP:0009595 IAO:0000115 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 NOT_TRANSLATED -en nl HP:0009596 rdfs:label Aplasia of the proximal phalanx of the 2nd finger Aplasie van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009596 IAO:0000115 Absence of the proximal phalanx of the 2nd finger Absence of the proximal phalanx of the 2nd finger NOT_TRANSLATED -en nl HP:0009597 rdfs:label Short proximal phalanx of the 2nd finger Korte proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009597 IAO:0000115 Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger NOT_TRANSLATED -en nl HP:0009598 rdfs:label Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal Symfalangisme van de proximale falanx van de 2e vinger met de 2e metacarpaal CANDIDATE -en nl HP:0009598 IAO:0000115 Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal NOT_TRANSLATED -en nl HP:0009599 rdfs:label Abnormality of thumb epiphysis Afwijking van de epifyse van de duim CANDIDATE -en nl HP:0009599 IAO:0000115 Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal NOT_TRANSLATED -en nl HP:0009600 rdfs:label Flexion contracture of thumb Flexiecontractuur van de duim CANDIDATE -en nl HP:0009600 IAO:0000115 Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED -en nl HP:0009601 rdfs:label Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasie van de duim CANDIDATE -en nl HP:0009601 IAO:0000115 Hypoplastic/small or absent thumb Hypoplastic/small or absent thumb NOT_TRANSLATED -en nl HP:0009602 rdfs:label Abnormality of thumb phalanx Afwijking van falanx van duim CANDIDATE -en nl HP:0009602 IAO:0000115 A structural anomaly of one or more phalanges of the thumb A structural anomaly of one or more phalanges of the thumb NOT_TRANSLATED -en nl HP:0009603 rdfs:label Deviation of the thumb Deviatie van de duim CANDIDATE -en nl HP:0009603 IAO:0000115 Displacement of the thumb from its normal position Displacement of the thumb from its normal position NOT_TRANSLATED -en nl HP:0009606 rdfs:label Complete duplication of distal phalanx of the thumb Complete duplicatie van distale falanx van de duim CANDIDATE -en nl HP:0009606 IAO:0000115 Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side NOT_TRANSLATED -en nl HP:0009608 rdfs:label Complete duplication of proximal phalanx of the thumb Complete duplicatie van proximale falanx van de duim CANDIDATE -en nl HP:0009608 IAO:0000115 Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009609 rdfs:label Duplication of the 1st metacarpal Duplicatie van de 1e metacarpaal CANDIDATE -en nl HP:0009609 IAO:0000115 Partail or complete duplication of the first metacarpal bone Partail or complete duplication of the first metacarpal bone NOT_TRANSLATED -en nl HP:0009611 rdfs:label Bifid distal phalanx of the thumb Bifide distale falanx van de duim CANDIDATE -en nl HP:0009611 IAO:0000115 Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones NOT_TRANSLATED -en nl HP:0009612 rdfs:label Duplication of the distal phalanx of the thumb Duplicatie van de distale falanx van de duim CANDIDATE -en nl HP:0009612 IAO:0000115 Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side NOT_TRANSLATED -en nl HP:0009613 rdfs:label Duplication of the proximal phalanx of the thumb Duplicatie van de proximale falanx van de duim CANDIDATE -en nl HP:0009613 IAO:0000115 Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009614 rdfs:label Bifid proximal phalanx of the thumb Bifide proximale falanx van de duim CANDIDATE -en nl HP:0009614 IAO:0000115 This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009615 rdfs:label Complete duplication of the first metacarpal Complete duplicatie van de 1e metacarpaal CANDIDATE -en nl HP:0009615 IAO:0000115 Complete duplication of the first metacarpal bone Complete duplication of the first metacarpal bone NOT_TRANSLATED -en nl HP:0009616 rdfs:label Bifid first metacarpal Bifide eerste metacarpaal CANDIDATE -en nl HP:0009616 IAO:0000115 Partial duplication of the first metacarpal bone Partial duplication of the first metacarpal bone NOT_TRANSLATED -en nl HP:0009617 rdfs:label Abnormality of the distal phalanx of the thumb Afwijking van de distale falanx van de duim CANDIDATE -en nl HP:0009617 IAO:0000115 Any anomaly of the distal phalanx of thumb Any anomaly of the distal phalanx of thumb NOT_TRANSLATED -en nl HP:0009618 rdfs:label Abnormality of the proximal phalanx of the thumb Afwijking van de proximale falanx van de duim CANDIDATE -en nl HP:0009618 IAO:0000115 An anomaly of the shape or form of the proximal phalanx of the thumb An anomaly of the shape or form of the proximal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009622 rdfs:label Distally placed thumb Distaal geplaatste duim CANDIDATE -en nl HP:0009622 IAO:0000115 Insertion of thumb at a more distal location than normal Insertion of thumb at a more distal location than normal NOT_TRANSLATED -en nl HP:0009623 rdfs:label Proximal placement of thumb Proximaal geplaatste duim CANDIDATE -en nl HP:0009623 IAO:0000115 Proximal mislocalization of the thumb Proximal mislocalization of the thumb NOT_TRANSLATED -en nl HP:0009624 rdfs:label Contractures of the carpometacarpal joint of the thumb Contracturen van het carpometacarpale gewricht van de duim CANDIDATE -en nl HP:0009624 IAO:0000115 Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint NOT_TRANSLATED -en nl HP:0009625 rdfs:label Contractures of the metacarpophalangeal joint of the thumb Contracturen van het metacarpofalangeale gewricht van de duim CANDIDATE -en nl HP:0009625 IAO:0000115 Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis NOT_TRANSLATED -en nl HP:0009626 rdfs:label Contractures of the interphalangeal joint of the thumb Contracturen van het interfalangeale gewricht van de duim CANDIDATE -en nl HP:0009626 IAO:0000115 Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis NOT_TRANSLATED -en nl HP:0009629 rdfs:label Aplasia/Hypoplasia of the proximal phalanx of the thumb Aplasie/Hypoplasie van de proximale falanx van de duim CANDIDATE -en nl HP:0009629 IAO:0000115 This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009630 rdfs:label Broad proximal phalanx of the thumb Brede proximale falanx van de duim CANDIDATE -en nl HP:0009630 IAO:0000115 Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009631 rdfs:label Bullet-shaped proximal phalanx of the thumb Kogel-vormige proximale falanx van de duim CANDIDATE -en nl HP:0009631 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected NOT_TRANSLATED -en nl HP:0009632 rdfs:label Curved proximal phalanx of the thumb Gebogen proximale falanx van de duim CANDIDATE -en nl HP:0009632 IAO:0000115 A deviation from the normal straight shape of the proximal phalanx of the thumb A deviation from the normal straight shape of the proximal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009633 rdfs:label Osteolytic defect of the proximal phalanx of the thumb Osteolytisch defect van de proximale falanx van de duim CANDIDATE -en nl HP:0009633 IAO:0000115 Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009634 rdfs:label Patchy sclerosis of the proximal phalanx of the thumb Fragmentele sclerose van de proximale falanx van de duim CANDIDATE -en nl HP:0009634 IAO:0000115 An uneven increase in bone density of the proximal phalanx of the thumb An uneven increase in bone density of the proximal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009635 rdfs:label Synostosis of thumb phalanx Synose van duim falanx CANDIDATE -en nl HP:0009635 IAO:0000115 Fusion of a phalanx of the thumb with another bone Fusion of a phalanx of the thumb with another bone NOT_TRANSLATED -en nl HP:0009636 rdfs:label Triangular shaped proximal phalanx of the thumb Driehoekige proximale falanx van de duim CANDIDATE -en nl HP:0009636 IAO:0000115 Triangular shaped proximal phalanx of the thumb Triangular shaped proximal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009637 rdfs:label Absent proximal phalanx of thumb Afwezige proximale falanx van de duim CANDIDATE -en nl HP:0009637 IAO:0000115 Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009638 rdfs:label Short proximal phalanx of thumb Korte proximale falanx van de duim CANDIDATE -en nl HP:0009638 IAO:0000115 Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009640 rdfs:label Synostosis of the proximal phalanx of the thumb with the 1st metacarpal Synostose van de proximale falanx van de duim met de 1e metacarpaal CANDIDATE -en nl HP:0009640 IAO:0000115 Fusion of the proximal phalanx of the thumb with the 1st metacarpal Fusion of the proximal phalanx of the thumb with the 1st metacarpal NOT_TRANSLATED -en nl HP:0009641 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the thumb Aplasie/Hypoplasie van de distale falanx van de duim CANDIDATE -en nl HP:0009642 rdfs:label Broad distal phalanx of the thumb Brede distale falanx van de duim CANDIDATE -en nl HP:0009642 IAO:0000115 Increased width of the distal phalanx of thumb Increased width of the distal phalanx of thumb NOT_TRANSLATED -en nl HP:0009643 rdfs:label Bullet-shaped distal phalanx of the thumb Kogel-vormige distale falanx van de duim CANDIDATE -en nl HP:0009643 IAO:0000115 Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected NOT_TRANSLATED -en nl HP:0009644 rdfs:label Curved distal phalanx of the thumb Gebogen distale falanx van de duim CANDIDATE -en nl HP:0009644 IAO:0000115 A deviation from the normal straight shape of the distal phalanx of the thumb A deviation from the normal straight shape of the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009645 rdfs:label Osteolytic defect of the distal phalanx of the thumb Osteolytisch defect van de distale falanx van de duim CANDIDATE -en nl HP:0009645 IAO:0000115 Dissolution or degeneration of bone tissue of the distal phalanx of the thumb Dissolution or degeneration of bone tissue of the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009646 rdfs:label Patchy sclerosis of the distal phalanx of the thumb Fragmentarische sclerose van de distale falanx van de duim CANDIDATE -en nl HP:0009646 IAO:0000115 An uneven increase in bone density of the distal phalanx of the thumb An uneven increase in bone density of the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009648 rdfs:label Triangular shaped distal phalanx of the thumb Driehoekige distale falanx van de duim CANDIDATE -en nl HP:0009648 IAO:0000115 Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED -en nl HP:0009649 rdfs:label Aplasia of the distal phalanx of the thumb Aplasie van de distale falanx van de duim CANDIDATE -en nl HP:0009649 IAO:0000115 Absence of the distal/terminal phalanx of the thumb Absence of the distal/terminal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009650 rdfs:label Short distal phalanx of the thumb Korte distale falanx van de duim CANDIDATE -en nl HP:0009650 IAO:0000115 Hypoplastic (short) distal phalanx of the thumb Hypoplastic (short) distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009652 rdfs:label Bullet-shaped thumb phalanx Kogel-vormig falanx van de duim CANDIDATE -en nl HP:0009652 IAO:0000115 An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009653 rdfs:label Curved thumb phalanx Gebogen falanx van de duim CANDIDATE -en nl HP:0009653 IAO:0000115 A deviation from the normal straight shape of a thumb phalanx A deviation from the normal straight shape of a thumb phalanx NOT_TRANSLATED -en nl HP:0009654 rdfs:label Osteolytic defect of thumb phalanx Osteolytisch defect van falanx van de duim CANDIDATE -en nl HP:0009654 IAO:0000115 Dissolution or degeneration of bone tissue of one or more phalanges of the thumb Dissolution or degeneration of bone tissue of one or more phalanges of the thumb NOT_TRANSLATED -en nl HP:0009655 rdfs:label Patchy sclerosis of thumb phalanx Fragmentarische sclerose van falanx van de duim CANDIDATE -en nl HP:0009655 IAO:0000115 An uneven increase in bone density of one or more of the phalanges of the thumb An uneven increase in bone density of one or more of the phalanges of the thumb NOT_TRANSLATED -en nl HP:0009656 rdfs:label Symphalangism of the thumb Symfalangisme van de duim CANDIDATE -en nl HP:0009656 IAO:0000115 Congenital fusion (ankylosis) of the interphalangeal joint of the thumb Congenital fusion (ankylosis) of the interphalangeal joint of the thumb NOT_TRANSLATED -en nl HP:0009657 rdfs:label Triangular shaped thumb phalanx Driehoekig falanx van de duim CANDIDATE -en nl HP:0009657 IAO:0000115 Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle NOT_TRANSLATED -en nl HP:0009658 rdfs:label Aplasia/Hypoplasia of the phalanges of the thumb Aplasie/Hypoplasie van de falangen van de duim CANDIDATE -en nl HP:0009659 rdfs:label Partial absence of thumb Partiële afwezigheid van de duim CANDIDATE -en nl HP:0009659 IAO:0000115 The absence of a phalangeal segment of a thumb The absence of a phalangeal segment of a thumb NOT_TRANSLATED -en nl HP:0009660 rdfs:label Short phalanx of the thumb Kort falanx van de duim CANDIDATE -en nl HP:0009660 IAO:0000115 Hypoplastic (short) thumb phalanx Hypoplastic (short) thumb phalanx NOT_TRANSLATED -en nl HP:0009662 rdfs:label Abnormality of the epiphysis of the distal phalanx of the thumb Afwijking van de epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009662 IAO:0000115 Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED -en nl HP:0009663 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the thumb Afwijking van de epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009663 IAO:0000115 This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009664 rdfs:label Absent epiphysis of the proximal phalanx of the thumb Afwezig epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009664 IAO:0000115 Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009665 rdfs:label Bracket epiphysis of the proximal phalanx of the thumb Haakvormige epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009665 IAO:0000115 An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009666 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the thumb Kegel-vormige epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009666 IAO:0000115 A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009667 rdfs:label Enlarged epiphysis of the proximal phalanx of the thumb Vergrote epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009667 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009668 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the thumb Fragmentatie van de epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009668 IAO:0000115 Epiphysis of the proximal phalanx of the thumb having multiple bony fragments Epiphysis of the proximal phalanx of the thumb having multiple bony fragments NOT_TRANSLATED -en nl HP:0009669 rdfs:label Irregular epiphysis of the proximal phalanx of the thumb Onregelmatige epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009669 IAO:0000115 Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009670 rdfs:label Ivory epiphysis of the proximal phalanx of the thumb Ivoren epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009670 IAO:0000115 Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009671 rdfs:label Pseudoepiphysis of the proximal phalanx of the thumb Pseudo-epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009671 IAO:0000115 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009672 rdfs:label Small epiphysis of the proximal phalanx of the thumb Kleine epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009672 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009673 rdfs:label Stippling of the epiphysis of the proximal phalanx of the thumb Vlekkerige calcificaties van de epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009673 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009674 rdfs:label Triangular epiphysis of the proximal phalanx of the thumb Driehoekige epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009674 IAO:0000115 A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009675 rdfs:label Absent epiphysis of the distal phalanx of the thumb Afwezige epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009675 IAO:0000115 Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009676 rdfs:label Bracket epiphysis of the distal phalanx of the thumb Haakvormige epifyse van de proximale falanx van de duim CANDIDATE -en nl HP:0009676 IAO:0000115 An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009677 rdfs:label Cone-shaped epiphysis of the distal phalanx of the thumb Kegel-vormige epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009677 IAO:0000115 A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED -en nl HP:0009678 rdfs:label Enlarged epiphysis of the distal phalanx of the thumb Vergrote epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009678 IAO:0000115 Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009679 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the thumb Fragmentatie van de epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009679 IAO:0000115 Epiphysis of the distal phalanx of the thumb having multiple bony fragments Epiphysis of the distal phalanx of the thumb having multiple bony fragments NOT_TRANSLATED -en nl HP:0009680 rdfs:label Irregular epiphysis of the distal phalanx of the thumb Onregelmatige epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009680 IAO:0000115 Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009681 rdfs:label Ivory epiphysis of the distal phalanx of the thumb Ivoren epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009681 IAO:0000115 Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009682 rdfs:label Pseudoepiphysis of the distal phalanx of the thumb Pseudo-epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009682 IAO:0000115 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009683 rdfs:label Small epiphysis of the distal phalanx of the thumb Kleine epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009683 IAO:0000115 Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009684 rdfs:label Stippling of the epiphysis of the distal phalanx of the thumb Vlekkerige calcificaties van de epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009684 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb NOT_TRANSLATED -en nl HP:0009685 rdfs:label Triangular epiphysis of the distal phalanx of the thumb Driehoekige epifyse van de distale falanx van de duim CANDIDATE -en nl HP:0009685 IAO:0000115 A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED -en nl HP:0009686 rdfs:label Absent epiphyses of the thumb Afwezige epifysen van de duim CANDIDATE -en nl HP:0009686 IAO:0000115 Absence of one or more epiphyses of the thumb Absence of one or more epiphyses of the thumb NOT_TRANSLATED -en nl HP:0009687 rdfs:label Bracket epiphyses of the thumb Haakvormige epifysen van de duim CANDIDATE -en nl HP:0009687 IAO:0000115 An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0009688 rdfs:label Cone-shaped epiphysis of the thumb Kegel-vormige epifyses van de duim CANDIDATE -en nl HP:0009688 IAO:0000115 A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED -en nl HP:0009689 rdfs:label Enlarged thumb epiphysis Vergrote epifyse van de duim CANDIDATE -en nl HP:0009689 IAO:0000115 Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009690 rdfs:label Fragmentation of thumb epiphysis Fragmentatie van de epifyse van de duim CANDIDATE -en nl HP:0009690 IAO:0000115 Epiphysis of the thumb having multiple bony fragments Epiphysis of the thumb having multiple bony fragments NOT_TRANSLATED -en nl HP:0009691 rdfs:label Irregular thumb epiphysis Irregulaire duim epifyse CANDIDATE -en nl HP:0009691 IAO:0000115 Uneven radiographic opacity of the one or more epiphyses of the thumb Uneven radiographic opacity of the one or more epiphyses of the thumb NOT_TRANSLATED -en nl HP:0009692 rdfs:label Ivory epiphysis of the thumb Ivoren epifyse van de duim CANDIDATE -en nl HP:0009692 IAO:0000115 Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0009693 rdfs:label Pseudoepiphysis of the thumb Pseudo-epifyse van de duim CANDIDATE -en nl HP:0009693 IAO:0000115 A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb NOT_TRANSLATED -en nl HP:0009694 rdfs:label Small thumb epiphysis Kleine epifyse van de duim CANDIDATE -en nl HP:0009694 IAO:0000115 Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0009695 rdfs:label Stippling of thumb epiphysis Vlekkerige calcificaties van epifyse van de duim CANDIDATE -en nl HP:0009695 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb NOT_TRANSLATED -en nl HP:0009696 rdfs:label Triangular epiphyses of the thumb Driehoekige epifysen van de duim CANDIDATE -en nl HP:0009697 rdfs:label Contracture of the distal interphalangeal joint of the fingers Contractuur van het distale interfalangeale gewricht van de vingers CANDIDATE -en nl HP:0009697 IAO:0000115 Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers NOT_TRANSLATED -en nl HP:0009699 rdfs:label Osteolytic defects of the hand bones Osteolytische defecten van de hand botten CANDIDATE -en nl HP:0009700 rdfs:label Finger symphalangism Vinger symfalangisme CANDIDATE -en nl HP:0009700 IAO:0000115 "An abnormal union between bones or parts of bones of the fingers. The synonymous term ""symphalangism of the hand"" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as ""Symphalangism"" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as ""bony"" Syndactyly" "An abnormal union between bones or parts of bones of the fingers. The synonymous term ""symphalangism of the hand"" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as ""Symphalangism"" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as ""bony"" Syndactyly" NOT_TRANSLATED -en nl HP:0009701 rdfs:label Metacarpal synostosis Metacarpale synostose CANDIDATE -en nl HP:0009701 IAO:0000115 Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx) Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx) NOT_TRANSLATED -en nl HP:0009702 rdfs:label Carpal synostosis Carpale synostose CANDIDATE -en nl HP:0009702 IAO:0000115 Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform) Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform) NOT_TRANSLATED -en nl HP:0009703 rdfs:label Synostosis involving the 1st metacarpal Synostose waarbij de 1e metacarpaal betrokken is CANDIDATE -en nl HP:0009703 IAO:0000115 Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009704 rdfs:label Chronic CSF lymphocytosis Chronische liquor lymfocytose CANDIDATE -en nl HP:0009704 IAO:0000115 Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter NOT_TRANSLATED -en nl HP:0009705 rdfs:label Synostosis involving the 2nd metacarpal Synostose waarbij de 2e metacarpaal betrokken is CANDIDATE -en nl HP:0009706 rdfs:label Synostosis involving the 3rd metacarpal Synostose waarbij de 3e metacarpaal betrokken is CANDIDATE -en nl HP:0009707 rdfs:label Synostosis involving the 4th metacarpal Synostose waarbij de 4e metacarpaal betrokken is CANDIDATE -en nl HP:0009708 rdfs:label Synostosis involving the 5th metacarpal Synostose waarbij de 5e metacarpaal betrokken is CANDIDATE -en nl HP:0009709 rdfs:label Increased CSF interferon alpha Verhoogd liquor interferon-alfa CANDIDATE -en nl HP:0009709 IAO:0000115 Increased concentration of interferon alpha in the cerebrospinal fluid (CSF) Increased concentration of interferon alpha in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0009710 rdfs:label Chilblains Chilblain laesies CANDIDATE -en nl HP:0009710 IAO:0000115 Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks NOT_TRANSLATED -en nl HP:0009711 rdfs:label Retinal capillary hemangioma Retinaal capillair hemangioom CANDIDATE -en nl HP:0009711 IAO:0000115 A benign vascular tumor of the retina without any neoplastic characteristics A benign vascular tumor of the retina without any neoplastic characteristics NOT_TRANSLATED -en nl HP:0009713 rdfs:label Spinal hemangioblastoma Spinaal hemangioblastoom CANDIDATE -en nl HP:0009713 IAO:0000115 A hemangioblastoma of the spinal cord A hemangioblastoma of the spinal cord NOT_TRANSLATED -en nl HP:0009714 rdfs:label Abnormal epididymis morphology Afwijking van de epididymis CANDIDATE -en nl HP:0009714 IAO:0000115 An abnormality of the epididymis An abnormality of the epididymis NOT_TRANSLATED -en nl HP:0009715 rdfs:label Papillary cystadenoma of the epididymis Papillair cystadenoom van de epididymis CANDIDATE -en nl HP:0009715 IAO:0000115 A cystadenoma, an epithelial tumor, that originates within the head of the epididymis A cystadenoma, an epithelial tumor, that originates within the head of the epididymis NOT_TRANSLATED -en nl HP:0009716 rdfs:label Subependymal nodules Subependymale noduli CANDIDATE -en nl HP:0009716 IAO:0000115 Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis NOT_TRANSLATED -en nl HP:0009717 rdfs:label Cortical tubers Corticale tubers CANDIDATE -en nl HP:0009717 IAO:0000115 Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients NOT_TRANSLATED -en nl HP:0009718 rdfs:label Subependymal giant-cell astrocytoma Subependymaal reuscelastrocytoom CANDIDATE -en nl HP:0009718 IAO:0000115 A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis NOT_TRANSLATED -en nl HP:0009719 rdfs:label Hypomelanotic macule Hypomelanotische macula CANDIDATE -en nl HP:0009719 IAO:0000115 "Hypomelanotic macules (""ash leaf spots"") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis" "Hypomelanotic macules (""ash leaf spots"") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis" NOT_TRANSLATED -en nl HP:0009720 rdfs:label Adenoma sebaceum Adenoma sebaceum CANDIDATE -en nl HP:0009720 IAO:0000115 The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin NOT_TRANSLATED -en nl HP:0009721 rdfs:label Shagreen patch Shagreen patch CANDIDATE -en nl HP:0009721 IAO:0000115 A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather NOT_TRANSLATED -en nl HP:0009722 rdfs:label Dental enamel pits Glazuur pits CANDIDATE -en nl HP:0009722 IAO:0000115 The presence of small depressions in the dental enamel The presence of small depressions in the dental enamel NOT_TRANSLATED -en nl HP:0009723 rdfs:label Abnormality of the subungual region Afwijking van de subunguale regio CANDIDATE -en nl HP:0009723 IAO:0000115 A lesion located beneath a fingernail or toenail A lesion located beneath a fingernail or toenail NOT_TRANSLATED -en nl HP:0009724 rdfs:label Subungual fibromas Subunguale fibromen CANDIDATE -en nl HP:0009724 IAO:0000115 The presence of fibromata beneath finger or toenails The presence of fibromata beneath finger or toenails NOT_TRANSLATED -en nl HP:0009725 rdfs:label Bladder neoplasm Blaas neoplasma CANDIDATE -en nl HP:0009725 IAO:0000115 The presence of a neoplasm of the urinary bladder The presence of a neoplasm of the urinary bladder NOT_TRANSLATED -en nl HP:0009726 rdfs:label Renal neoplasm Renaal neoplasma CANDIDATE -en nl HP:0009726 IAO:0000115 The presence of a neoplasm of the kidney The presence of a neoplasm of the kidney NOT_TRANSLATED -en nl HP:0009727 rdfs:label Achromatic retinal patches Retinale achromatische spots CANDIDATE -en nl HP:0009727 IAO:0000115 Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina NOT_TRANSLATED -en nl HP:0009728 rdfs:label Neoplasm of striated muscle Neoplasma van dwarsgestreept spierweefsel CANDIDATE -en nl HP:0009728 IAO:0000115 A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle NOT_TRANSLATED -en nl HP:0009729 rdfs:label Cardiac rhabdomyoma Cardiaal rhabdomyoom CANDIDATE -en nl HP:0009729 IAO:0000115 A benign tumor of cardiac striated muscle A benign tumor of cardiac striated muscle NOT_TRANSLATED -en nl HP:0009730 rdfs:label Rhabdomyoma Rhabdomyoom CANDIDATE -en nl HP:0009730 IAO:0000115 A benign tumor of striated muscle A benign tumor of striated muscle NOT_TRANSLATED -en nl HP:0009731 rdfs:label Cerebral hamartoma Cerebrale hamartomen CANDIDATE -en nl HP:0009731 IAO:0000115 The presence of a hamartoma of the cerebrum The presence of a hamartoma of the cerebrum NOT_TRANSLATED -en nl HP:0009732 rdfs:label Plexiform neurofibroma Plexiforme neurofibromen CANDIDATE -en nl HP:0009732 IAO:0000115 A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure NOT_TRANSLATED -en nl HP:0009733 rdfs:label Glioma Glioom CANDIDATE -en nl HP:0009733 IAO:0000115 The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes) The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes) NOT_TRANSLATED -en nl HP:0009734 rdfs:label Optic nerve glioma Oogzenuw glioom CANDIDATE -en nl HP:0009734 IAO:0000115 A glioma originating in the optic nerve or optic chiasm A glioma originating in the optic nerve or optic chiasm NOT_TRANSLATED -en nl HP:0009735 rdfs:label Spinal neurofibromas Spinale neurofibromen CANDIDATE -en nl HP:0009735 IAO:0000115 Neurofibromas originating in the spine Neurofibromas originating in the spine NOT_TRANSLATED -en nl HP:0009736 rdfs:label Tibial pseudarthrosis Pseudoartrose van de tibia CANDIDATE -en nl HP:0009736 IAO:0000115 "Pseudarthrosis, or ""false joint"" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life" "Pseudarthrosis, or ""false joint"" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life" NOT_TRANSLATED -en nl HP:0009737 rdfs:label Lisch nodules Lisch noduli CANDIDATE -en nl HP:0009737 IAO:0000115 The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris. The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris. NOT_TRANSLATED -en nl HP:0009738 rdfs:label Abnormal antihelix morphology Afwijking van de antihelix CANDIDATE -en nl HP:0009738 IAO:0000115 An abnormality of the antihelix An abnormality of the antihelix NOT_TRANSLATED -en nl HP:0009739 rdfs:label Hypoplasia of the antihelix Hypoplasie van de antihelix CANDIDATE -en nl HP:0009739 IAO:0000115 Developmental hypoplasia of the antihelix Developmental hypoplasia of the antihelix NOT_TRANSLATED -en nl HP:0009740 rdfs:label Aplasia of the parotid gland Aplasie van de glandula parotis CANDIDATE -en nl HP:0009740 IAO:0000115 Absence of the parotid gland Absence of the parotid gland NOT_TRANSLATED -en nl HP:0009741 rdfs:label Nephrosclerosis Nefrosclerose CANDIDATE -en nl HP:0009741 IAO:0000115 "Nephrosclerosis refers to thickening or scarring (""sclerosis"") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries" "Nephrosclerosis refers to thickening or scarring (""sclerosis"") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries" NOT_TRANSLATED -en nl HP:0009742 rdfs:label Stiff shoulders Stijve schouders CANDIDATE -en nl HP:0009742 IAO:0000115 Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity NOT_TRANSLATED -en nl HP:0009743 rdfs:label Distichiasis Distichiasis CANDIDATE -en nl HP:0009743 IAO:0000115 Double rows of eyelashes Double rows of eyelashes NOT_TRANSLATED -en nl HP:0009744 rdfs:label Abnormal spinal dura mater morphology Afwijking van de spinale dura mater CANDIDATE -en nl HP:0009744 IAO:0000115 An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord NOT_TRANSLATED -en nl HP:0009745 rdfs:label Spinal arachnoid cyst Spinale arachnoïdale cyste CANDIDATE -en nl HP:0009745 IAO:0000115 Presence of arachnoid cysts of the spinal canal extradurally in the epidural space Presence of arachnoid cysts of the spinal canal extradurally in the epidural space NOT_TRANSLATED -en nl HP:0009746 rdfs:label Thick nasal septum Dik septum nasi CANDIDATE -en nl HP:0009746 IAO:0000115 Abnormally increased thickness of the nasal septum Abnormally increased thickness of the nasal septum NOT_TRANSLATED -en nl HP:0009747 rdfs:label Lumbosacral hirsutism Lumbosacraal hirsutisme CANDIDATE -en nl HP:0009747 IAO:0000115 Abnormally increased hair growth in the lumbosacral region Abnormally increased hair growth in the lumbosacral region NOT_TRANSLATED -en nl HP:0009748 rdfs:label Large earlobe Grote oorlel CANDIDATE -en nl HP:0009748 IAO:0000115 Increased volume of the earlobe, that is, abnormally prominent ear lobules Increased volume of the earlobe, that is, abnormally prominent ear lobules NOT_TRANSLATED -en nl HP:0009751 rdfs:label Aplasia of the pectoralis major muscle Aplasie van pectoralis major CANDIDATE -en nl HP:0009751 IAO:0000115 Absence of the pectoralis major muscle Absence of the pectoralis major muscle NOT_TRANSLATED -en nl HP:0009752 rdfs:label Cleft in skull base Gespleten schedelbasis CANDIDATE -en nl HP:0009752 IAO:0000115 A bony defect in the skull base A bony defect in the skull base NOT_TRANSLATED -en nl HP:0009754 rdfs:label Fibrous syngnathia Fibreuze syngnathie CANDIDATE -en nl HP:0009754 IAO:0000115 Complete or nearly complete soft tissue fusion of the alveolar ridges Complete or nearly complete soft tissue fusion of the alveolar ridges NOT_TRANSLATED -en nl HP:0009755 rdfs:label Ankyloblepharon Ankyloblepharon CANDIDATE -en nl HP:0009755 IAO:0000115 Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue NOT_TRANSLATED -en nl HP:0009756 rdfs:label Popliteal pterygium Popliteaal pterygium CANDIDATE -en nl HP:0009756 IAO:0000115 A pterygium (or pterygia) occurring in the popliteal region (the back of the knee) A pterygium (or pterygia) occurring in the popliteal region (the back of the knee) NOT_TRANSLATED -en nl HP:0009757 rdfs:label Intercrural pterygium Intercruraal pterygium CANDIDATE -en nl HP:0009757 IAO:0000115 A pterygium (or pterygia) in the intercrural (groin) region A pterygium (or pterygia) in the intercrural (groin) region NOT_TRANSLATED -en nl HP:0009758 rdfs:label Pyramidal skinfold extending from the base to the top of the nails Pyramidal skinfold extending from the base to the top of the nails NOT_TRANSLATED -en nl HP:0009758 IAO:0000115 Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome NOT_TRANSLATED -en nl HP:0009759 rdfs:label Neck pterygia Nek pterygia CANDIDATE -en nl HP:0009759 IAO:0000115 Pterygia affecting the neck Pterygia affecting the neck NOT_TRANSLATED -en nl HP:0009760 rdfs:label Antecubital pterygium Antecubitaal pterygium CANDIDATE -en nl HP:0009760 IAO:0000115 Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric NOT_TRANSLATED -en nl HP:0009761 rdfs:label Anterior clefting of vertebral bodies Anterieur gespleten wervellichamen CANDIDATE -en nl HP:0009761 IAO:0000115 Anterior schisis (cleft or cleavage) of vertebral bodies Anterior schisis (cleft or cleavage) of vertebral bodies NOT_TRANSLATED -en nl HP:0009762 rdfs:label Facial wrinkling Faciale rimpelvorming CANDIDATE -en nl HP:0009762 IAO:0000115 Excessive wrinkling of the skin of the face Excessive wrinkling of the skin of the face NOT_TRANSLATED -en nl HP:0009763 rdfs:label Limb pain Ledemaat pijn CANDIDATE -en nl HP:0009763 IAO:0000115 Chronic pain in the limbs with no clear focal etiology Chronic pain in the limbs with no clear focal etiology NOT_TRANSLATED -en nl HP:0009765 rdfs:label Low hanging columella Laaghangende columella CANDIDATE -en nl HP:0009765 IAO:0000115 Columella extending inferior to the level of the nasal base, when viewed from the side Columella extending inferior to the level of the nasal base, when viewed from the side NOT_TRANSLATED -en nl HP:0009767 rdfs:label Aplasia/Hypoplasia of the phalanges of the hand Aplasie/Hypoplasie van de falangen van de hand CANDIDATE -en nl HP:0009767 IAO:0000115 Small or missing phalangeal bones of the fingers of the hand Small or missing phalangeal bones of the fingers of the hand NOT_TRANSLATED -en nl HP:0009768 rdfs:label Broad phalanges of the hand Brede falangen van de hand CANDIDATE -en nl HP:0009768 IAO:0000115 Increased width of the phalanges of the hand Increased width of the phalanges of the hand NOT_TRANSLATED -en nl HP:0009769 rdfs:label Bullet-shaped phalanges of the hand Kogel-vormige falangen van de hand CANDIDATE -en nl HP:0009769 IAO:0000115 "The presence of short and wide phalanges which taper distally (""bullet shaped"")" "The presence of short and wide phalanges which taper distally (""bullet shaped"")" NOT_TRANSLATED -en nl HP:0009770 rdfs:label Curved phalanges of the hand Gebogen falangen van de hand CANDIDATE -en nl HP:0009771 rdfs:label Osteolytic defects of the phalanges of the hand Osteolytische defecten van de falangen van de hand CANDIDATE -en nl HP:0009771 IAO:0000115 Dissolution or degeneration of bone tissue of the phalanges of the hand Dissolution or degeneration of bone tissue of the phalanges of the hand NOT_TRANSLATED -en nl HP:0009772 rdfs:label Patchy sclerosis of finger phalanx Fragmentarische sclerose van falanx van vinger CANDIDATE -en nl HP:0009772 IAO:0000115 Uneven (irregular) increase in bone density of one or more of the phalanges of the hand Uneven (irregular) increase in bone density of one or more of the phalanges of the hand NOT_TRANSLATED -en nl HP:0009773 rdfs:label Symphalangism affecting the phalanges of the hand Symfalangisme van de falangen van de hand CANDIDATE -en nl HP:0009773 IAO:0000115 Fusion of two or more phalangeal bones of the hand Fusion of two or more phalangeal bones of the hand NOT_TRANSLATED -en nl HP:0009774 rdfs:label Triangular shaped phalanges of the hand Driehoekige falangen van de hand CANDIDATE -en nl HP:0009775 rdfs:label Amniotic constriction ring Amniotic constriction ring NOT_TRANSLATED -en nl HP:0009775 IAO:0000115 Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands NOT_TRANSLATED -en nl HP:0009776 rdfs:label Adactyly Adactylie CANDIDATE -en nl HP:0009776 IAO:0000115 The absence of all phalanges of all the digits of a limb and the associated soft tissues The absence of all phalanges of all the digits of a limb and the associated soft tissues NOT_TRANSLATED -en nl HP:0009777 rdfs:label Absent thumb Afwezige duim CANDIDATE -en nl HP:0009777 IAO:0000115 Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues NOT_TRANSLATED -en nl HP:0009778 rdfs:label Short thumb Korte duim CANDIDATE -en nl HP:0009778 IAO:0000115 Hypoplasia (congenital reduction in size) of the thumb Hypoplasia (congenital reduction in size) of the thumb NOT_TRANSLATED -en nl HP:0009779 rdfs:label 3-4 toe syndactyly 3-4 teen syndactylie CANDIDATE -en nl HP:0009779 IAO:0000115 Syndactyly with fusion of toes three and four Syndactyly with fusion of toes three and four NOT_TRANSLATED -en nl HP:0009780 rdfs:label Iliac horns Bekkenhoorntjes CANDIDATE -en nl HP:0009780 IAO:0000115 Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic NOT_TRANSLATED -en nl HP:0009781 rdfs:label Lester's sign Lester's sign NOT_TRANSLATED -en nl HP:0009781 IAO:0000115 A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape NOT_TRANSLATED -en nl HP:0009782 rdfs:label Aplasia/Hypoplasia of the biceps Aplasia/Hypoplasie van de biceps CANDIDATE -en nl HP:0009782 IAO:0000115 Absence or underdevelopment of the biceps muscle Absence or underdevelopment of the biceps muscle NOT_TRANSLATED -en nl HP:0009783 rdfs:label Biceps aplasia Biceps aplasie CANDIDATE -en nl HP:0009783 IAO:0000115 Absence of the biceps muscle Absence of the biceps muscle NOT_TRANSLATED -en nl HP:0009784 rdfs:label Aplasia/Hypoplasia of the triceps Aplasia/Hypoplasie van de triceps CANDIDATE -en nl HP:0009784 IAO:0000115 Absence or underdevelopment of the triceps muscle Absence or underdevelopment of the triceps muscle NOT_TRANSLATED -en nl HP:0009785 rdfs:label Triceps aplasia Triceps aplasie CANDIDATE -en nl HP:0009785 IAO:0000115 Absence of the triceps muscle Absence of the triceps muscle NOT_TRANSLATED -en nl HP:0009786 rdfs:label Aplasia/Hypoplasia of the musculature of the thigh Aplasie/Hypoplasie van de musculatuur van de dij CANDIDATE -en nl HP:0009786 IAO:0000115 Absence or underdevelopment involving the musculature of the thigh Absence or underdevelopment involving the musculature of the thigh NOT_TRANSLATED -en nl HP:0009787 rdfs:label Aplasia/Hypoplasia of the quadriceps Aplasia/Hypoplasie van de quadriceps CANDIDATE -en nl HP:0009787 IAO:0000115 Absence or underdevelopment of the quadriceps muscle Absence or underdevelopment of the quadriceps muscle NOT_TRANSLATED -en nl HP:0009788 rdfs:label Quadriceps aplasia Quadriceps aplasie CANDIDATE -en nl HP:0009788 IAO:0000115 Absence of the quadriceps muscle Absence of the quadriceps muscle NOT_TRANSLATED -en nl HP:0009789 rdfs:label Perianal abscess Perianaal abces CANDIDATE -en nl HP:0009789 IAO:0000115 The presence of an abscess located around the anus The presence of an abscess located around the anus NOT_TRANSLATED -en nl HP:0009790 rdfs:label Hemisacrum Hemisacrum CANDIDATE -en nl HP:0009790 IAO:0000115 A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5 A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5 NOT_TRANSLATED -en nl HP:0009791 rdfs:label Bifid sacrum Bifide sacrum CANDIDATE -en nl HP:0009791 IAO:0000115 Presence of a bifid sacral bone Presence of a bifid sacral bone NOT_TRANSLATED -en nl HP:0009792 rdfs:label Teratoma Teratoom CANDIDATE -en nl HP:0009792 IAO:0000115 The presence of a teratoma The presence of a teratoma NOT_TRANSLATED -en nl HP:0009793 rdfs:label Presacral teratoma Presacraal teratoom CANDIDATE -en nl HP:0009793 IAO:0000115 A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV) A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV) NOT_TRANSLATED -en nl HP:0009794 rdfs:label Branchial anomaly Kieuwboog anomalie CANDIDATE -en nl HP:0009794 IAO:0000115 Congenital developmental defect arising from the primitive branchial apparatus Congenital developmental defect arising from the primitive branchial apparatus NOT_TRANSLATED -en nl HP:0009795 rdfs:label Branchial fistula Kieuwboog fistel CANDIDATE -en nl HP:0009795 IAO:0000115 A congenital fistula in the neck resulting from incomplete closure of a branchial cleft A congenital fistula in the neck resulting from incomplete closure of a branchial cleft NOT_TRANSLATED -en nl HP:0009796 rdfs:label Branchial cyst Kieuwboog cyste CANDIDATE -en nl HP:0009796 IAO:0000115 A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region NOT_TRANSLATED -en nl HP:0009797 rdfs:label Cholesteatoma Cholesteatoom CANDIDATE -en nl HP:0009797 IAO:0000115 Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear NOT_TRANSLATED -en nl HP:0009798 rdfs:label Euthyroid goiter Euthyreoot struma CANDIDATE -en nl HP:0009798 IAO:0000115 A goiter that is not associated with functional thyroid abnormalities A goiter that is not associated with functional thyroid abnormalities NOT_TRANSLATED -en nl HP:0009799 rdfs:label Supernumerary spleens Extra milten CANDIDATE -en nl HP:0009799 IAO:0000115 The presence of two or more accessory spleens The presence of two or more accessory spleens NOT_TRANSLATED -en nl HP:0009800 rdfs:label Maternal diabetes Maternale diabetes CANDIDATE -en nl HP:0009800 IAO:0000115 Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes NOT_TRANSLATED -en nl HP:0009802 rdfs:label Aplasia of the phalanges of the hand Aplasie van de falangen van de hand CANDIDATE -en nl HP:0009802 IAO:0000115 Absence of one or more of the phalanges of the hand Absence of one or more of the phalanges of the hand NOT_TRANSLATED -en nl HP:0009803 rdfs:label Short phalanx of finger Kort falanx van vinger CANDIDATE -en nl HP:0009803 IAO:0000115 Short (hypoplastic) phalanx of finger, affecting one or more phalanges Short (hypoplastic) phalanx of finger, affecting one or more phalanges NOT_TRANSLATED -en nl HP:0009804 rdfs:label Tooth agenesis Verminderd aantal tanden CANDIDATE -en nl HP:0009804 IAO:0000115 The absence of one or more teeth from the normal series by a failurento develop The absence of one or more teeth from the normal series by a failurento develop NOT_TRANSLATED -en nl HP:0009805 rdfs:label Low-output congestive heart failure Low-output congestief hartfalen CANDIDATE -en nl HP:0009805 IAO:0000115 A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes NOT_TRANSLATED -en nl HP:0009806 rdfs:label Nephrogenic diabetes insipidus Nefrogene diabetes insipidus CANDIDATE -en nl HP:0009806 IAO:0000115 A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP) A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP) NOT_TRANSLATED -en nl HP:0009808 rdfs:label Anomaly of the upper limb diaphyses Anomalie van de diafysen van de bovenste extremiteit CANDIDATE -en nl HP:0009808 IAO:0000115 A structural abnormality of a diaphysis of the arm A structural abnormality of a diaphysis of the arm NOT_TRANSLATED -en nl HP:0009809 rdfs:label Abnormal upper limb metaphysis morphology Afwijking van metafyse van bovenste ledematen CANDIDATE -en nl HP:0009809 IAO:0000115 An anomaly of one or more metaphyses of the arms An anomaly of one or more metaphyses of the arms NOT_TRANSLATED -en nl HP:0009810 rdfs:label Abnormality of upper limb joint Afwijking van gewricht van bovenste extremiteit CANDIDATE -en nl HP:0009811 rdfs:label Abnormality of the elbow Afwijking van de elleboog CANDIDATE -en nl HP:0009811 IAO:0000115 An anomaly of the joint that connects the upper and the lower arm An anomaly of the joint that connects the upper and the lower arm NOT_TRANSLATED -en nl HP:0009812 rdfs:label Amelia involving the upper limbs Amelie waarbij de bovenste ledematen betrokken zijn CANDIDATE -en nl HP:0009812 IAO:0000115 Amelia of one or both upper limbs Amelia of one or both upper limbs NOT_TRANSLATED -en nl HP:0009813 rdfs:label Upper limb phocomelia Bovenste ledematen focomelie CANDIDATE -en nl HP:0009813 IAO:0000115 Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) NOT_TRANSLATED -en nl HP:0009814 rdfs:label Upper limb peromelia Bovenste ledematen peromelie CANDIDATE -en nl HP:0009814 IAO:0000115 Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation NOT_TRANSLATED -en nl HP:0009815 rdfs:label Aplasia/hypoplasia of the extremities Aplasia/hypoplasie van de extremiteiten CANDIDATE -en nl HP:0009815 IAO:0000115 Absence (due to failure to form) or underdevelopment of the extremities Absence (due to failure to form) or underdevelopment of the extremities NOT_TRANSLATED -en nl HP:0009816 rdfs:label Lower limb undergrowth Onderste ledemaat ondergroei CANDIDATE -en nl HP:0009816 IAO:0000115 Leg shortening because of underdevelopment of one or more bones of the lower extremity Leg shortening because of underdevelopment of one or more bones of the lower extremity NOT_TRANSLATED -en nl HP:0009817 rdfs:label Aplasia involving bones of the lower limbs Aplasie waarbij de botten van onderste ledematen betrokken zijn CANDIDATE -en nl HP:0009818 rdfs:label Amelia involving the lower limbs Amelie waarbij de onderste ledematen betrokken zijn CANDIDATE -en nl HP:0009818 IAO:0000115 Amelia of one or both legs Amelia of one or both legs NOT_TRANSLATED -en nl HP:0009819 rdfs:label Lower limb phocomelia Onderste ledematen focomelie CANDIDATE -en nl HP:0009819 IAO:0000115 Phocomelia affecting only the lower limbs Phocomelia affecting only the lower limbs NOT_TRANSLATED -en nl HP:0009820 rdfs:label Lower limb peromelia Onderste ledematen peromelie CANDIDATE -en nl HP:0009820 IAO:0000115 Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation NOT_TRANSLATED -en nl HP:0009821 rdfs:label Forearm undergrowth Onderarm ondergroei CANDIDATE -en nl HP:0009821 IAO:0000115 Forearm shortening because of underdevelopment of one or more bones of the forearm Forearm shortening because of underdevelopment of one or more bones of the forearm NOT_TRANSLATED -en nl HP:0009822 rdfs:label Aplasia involving forearm bones Aplasia waarbij botten van onderarm betrokken zijn CANDIDATE -en nl HP:0009823 rdfs:label Aplasia involving bones of the upper limbs Aplasie waarbij de botten van bovenste ledematen betrokken zijn CANDIDATE -en nl HP:0009824 rdfs:label Upper limb undergrowth Bovenste ledemaat ondergroei CANDIDATE -en nl HP:0009824 IAO:0000115 Arm shortening because of underdevelopment of one or more bones of the upper extremity Arm shortening because of underdevelopment of one or more bones of the upper extremity NOT_TRANSLATED -en nl HP:0009825 rdfs:label Aplasia involving bones of the extremities Aplasie waarbij de botten van de extremiteiten betrokken zijn CANDIDATE -en nl HP:0009826 rdfs:label Limb undergrowth Ledemaat ondergroei CANDIDATE -en nl HP:0009826 IAO:0000115 Limb shortening because of underdevelopment of one or more bones of the extremities Limb shortening because of underdevelopment of one or more bones of the extremities NOT_TRANSLATED -en nl HP:0009827 rdfs:label Amelia Amelie CANDIDATE -en nl HP:0009827 IAO:0000115 Congenital absence (aplasia) of one or more limbs Congenital absence (aplasia) of one or more limbs NOT_TRANSLATED -en nl HP:0009828 rdfs:label Peromelia Peromelie CANDIDATE -en nl HP:0009828 IAO:0000115 The distal parts of the limbs are missing leading to a stump formation The distal parts of the limbs are missing leading to a stump formation NOT_TRANSLATED -en nl HP:0009829 rdfs:label Phocomelia Focomelie CANDIDATE -en nl HP:0009829 IAO:0000115 Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) NOT_TRANSLATED -en nl HP:0009830 rdfs:label Peripheral neuropathy Perifere neuropathie CANDIDATE -en nl HP:0009830 IAO:0000115 Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course NOT_TRANSLATED -en nl HP:0009831 rdfs:label Mononeuropathy Mononeuropathie CANDIDATE -en nl HP:0009831 IAO:0000115 A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution NOT_TRANSLATED -en nl HP:0009832 rdfs:label Abnormal distal phalanx morphology of finger Afwijking van de distale falanx van vinger CANDIDATE -en nl HP:0009832 IAO:0000115 Any anomaly of distal phalanx of finger Any anomaly of distal phalanx of finger NOT_TRANSLATED -en nl HP:0009833 rdfs:label Abnormal middle phalanx morphology of the hand Afwijking van de middelste falangen van de handen CANDIDATE -en nl HP:0009833 IAO:0000115 An anomaly of middle phalanx of finger An anomaly of middle phalanx of finger NOT_TRANSLATED -en nl HP:0009834 rdfs:label Abnormal proximal phalanx morphology of the hand Afwijking van de proximale falangen van de handen CANDIDATE -en nl HP:0009835 rdfs:label Aplasia/Hypoplasia of the distal phalanges of the hand Aplasie/Hypoplasie van de distale falangen van de handen CANDIDATE -en nl HP:0009835 IAO:0000115 Absence or underdevelopment of the distal phalanges Absence or underdevelopment of the distal phalanges NOT_TRANSLATED -en nl HP:0009836 rdfs:label Broad distal phalanx of finger Brede distale falanx van de vinger CANDIDATE -en nl HP:0009836 IAO:0000115 Abnormally wide (broad) distal phalanx of finger Abnormally wide (broad) distal phalanx of finger NOT_TRANSLATED -en nl HP:0009837 rdfs:label Bullet-shaped distal phalanges of the hand Kogel-vormige distal falangen van de hand CANDIDATE -en nl HP:0009837 IAO:0000115 Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009838 rdfs:label Curved distal phalanges of the hand Gebogen distale falangen van de hand CANDIDATE -en nl HP:0009839 rdfs:label Osteolytic defects of the distal phalanges of the hand Osteolytische defecten van de distale falangen van de hand CANDIDATE -en nl HP:0009840 rdfs:label Patchy sclerosis of distal phalanx of finger Fragmentarische sclerose van distale falanx van vinger CANDIDATE -en nl HP:0009840 IAO:0000115 Uneven (irregular) increase in bone density of the distal phalanges of the hand Uneven (irregular) increase in bone density of the distal phalanges of the hand NOT_TRANSLATED -en nl HP:0009843 rdfs:label Aplasia/Hypoplasia of the middle phalanges of the hand Aplasie/Hypoplasie van de middelste falangen van de handen CANDIDATE -en nl HP:0009844 rdfs:label Broad middle phalanx of finger Brede middelste falanx van vinger CANDIDATE -en nl HP:0009844 IAO:0000115 Increased width of the middle phalanx of finger Increased width of the middle phalanx of finger NOT_TRANSLATED -en nl HP:0009845 rdfs:label Bullet-shaped middle phalanges of the hand Kogel-vormige middelste falangen van de hand CANDIDATE -en nl HP:0009845 IAO:0000115 Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009846 rdfs:label Curved middle phalanges of the hand Gebogen middelste falangen van de hand CANDIDATE -en nl HP:0009847 rdfs:label Osteolytic defects of the middle phalanges of the hand Osteolytische defecten van de middelste falangen van de hand CANDIDATE -en nl HP:0009848 rdfs:label Patchy sclerosis of middle phalanx of finger Fragmentarische sclerose van middelste falanx van vinger CANDIDATE -en nl HP:0009848 IAO:0000115 Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand NOT_TRANSLATED -en nl HP:0009849 rdfs:label Symphalangism of middle phalanx of finger Symfalangisme van middelste falanx van vinger CANDIDATE -en nl HP:0009849 IAO:0000115 Fusion of a middle phalanx of a finger with another bone Fusion of a middle phalanx of a finger with another bone NOT_TRANSLATED -en nl HP:0009850 rdfs:label Triangular shaped middle phalanges of the hand Driehoekige middelste falangen van de hand CANDIDATE -en nl HP:0009851 rdfs:label Aplasia/Hypoplasia of the proximal phalanges of the hand Aplasie/Hypoplasie van de proximale falangen van de handen CANDIDATE -en nl HP:0009852 rdfs:label Broad proximal phalanges of the hand Brede proximale falangen van de hand CANDIDATE -en nl HP:0009852 IAO:0000115 Increased width of the proximal phalanges of the finger Increased width of the proximal phalanges of the finger NOT_TRANSLATED -en nl HP:0009853 rdfs:label Bullet-shaped proximal phalanges of the hand Kogel-vormige proximale falangen van de hand CANDIDATE -en nl HP:0009853 IAO:0000115 Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0009854 rdfs:label Curved proximal phalanges of the hand Gebogen proximale falangen van de hand CANDIDATE -en nl HP:0009855 rdfs:label Osteolytic defects of the proximal phalanges of the hand Osteolytische defecten van de proximale falangen van de hand CANDIDATE -en nl HP:0009856 rdfs:label Patchy sclerosis of proximal phalanx of finger Fragmentarische sclerose van proximale falanx van vinger CANDIDATE -en nl HP:0009856 IAO:0000115 Uneven increase in bone density of the proximal phalanges of the hand Uneven increase in bone density of the proximal phalanges of the hand NOT_TRANSLATED -en nl HP:0009857 rdfs:label Symphalangism affecting the proximal phalanges of the hand Symfalangisme van de proximale falangen van hand CANDIDATE -en nl HP:0009858 rdfs:label Triangular shaped proximal phalanges of the hand Driehoekige proximale falangen van de hand CANDIDATE -en nl HP:0009875 rdfs:label Triangular shaped distal phalanges of the hand Driehoekige distale falangen van de hand CANDIDATE -en nl HP:0009878 rdfs:label Cerebellar ataxia associated with quadrupedal gait Cerebellaire ataxie geassocieerd met quadrupedale gang CANDIDATE -en nl HP:0009878 IAO:0000115 The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight) The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight) NOT_TRANSLATED -en nl HP:0009879 rdfs:label Simplified gyral pattern Corticale gyrale simplificatie CANDIDATE -en nl HP:0009879 IAO:0000115 An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly NOT_TRANSLATED -en nl HP:0009880 rdfs:label Broad distal phalanges of all fingers Brede distale falangen van alle vingers CANDIDATE -en nl HP:0009880 IAO:0000115 Abnormally wide (broad) distal phalanx of finger of all fingers Abnormally wide (broad) distal phalanx of finger of all fingers NOT_TRANSLATED -en nl HP:0009881 rdfs:label Aplasia of the distal phalanges of the hand Aplasie van distale falangen van de hand CANDIDATE -en nl HP:0009882 rdfs:label Short distal phalanx of finger Korte distale falanx van de vinger CANDIDATE -en nl HP:0009882 IAO:0000115 Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger NOT_TRANSLATED -en nl HP:0009883 rdfs:label Duplication of the distal phalanx of hand Duplicatie van de distale falanx van hand CANDIDATE -en nl HP:0009883 IAO:0000115 This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0009884 rdfs:label Tapered distal phalanges of finger Tapered distal phalanges of finger NOT_TRANSLATED -en nl HP:0009884 IAO:0000115 A reduction in diameter of the distal phalanx of finger towards the distal end A reduction in diameter of the distal phalanx of finger towards the distal end NOT_TRANSLATED -en nl HP:0009886 rdfs:label Trichorrhexis nodosa Trichorrhexis nodosa CANDIDATE -en nl HP:0009886 IAO:0000115 Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair NOT_TRANSLATED -en nl HP:0009887 rdfs:label Abnormality of hair pigmentation Afwijking van haar pigmentatie CANDIDATE -en nl HP:0009887 IAO:0000115 An abnormality of hair pigmentation (color) An abnormality of hair pigmentation (color) NOT_TRANSLATED -en nl HP:0009888 rdfs:label Abnormality of secondary sexual hair Afwijking van secundaire geslachtsbeharing CANDIDATE -en nl HP:0009888 IAO:0000115 Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair NOT_TRANSLATED -en nl HP:0009889 rdfs:label Localized hirsutism Gelokaliseerde hirsutisme CANDIDATE -en nl HP:0009889 IAO:0000115 Abnormally increased hair growth with a localized distribution Abnormally increased hair growth with a localized distribution NOT_TRANSLATED -en nl HP:0009890 rdfs:label High anterior hairline Hoge voorste haarlijn CANDIDATE -en nl HP:0009890 IAO:0000115 Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella NOT_TRANSLATED -en nl HP:0009891 rdfs:label Underdeveloped supraorbital ridges Onderontwikkelde supraorbitale plooien CANDIDATE -en nl HP:0009891 IAO:0000115 Flatness of the supraorbital portion of the frontal bones Flatness of the supraorbital portion of the frontal bones NOT_TRANSLATED -en nl HP:0009892 rdfs:label Anotia Anotie CANDIDATE -en nl HP:0009892 IAO:0000115 Complete absence of any auricular structures Complete absence of any auricular structures NOT_TRANSLATED -en nl HP:0009893 rdfs:label Telangiectasia of the ear Teleangiëctasie van het oor CANDIDATE -en nl HP:0009893 IAO:0000115 The presence of telangiectasia of the ear The presence of telangiectasia of the ear NOT_TRANSLATED -en nl HP:0009894 rdfs:label Thickened ears Verdikte oren CANDIDATE -en nl HP:0009894 IAO:0000115 Increased thickness of the external ear Increased thickness of the external ear NOT_TRANSLATED -en nl HP:0009895 rdfs:label Abnormality of the crus of the helix Afwijking van de crus helicis CANDIDATE -en nl HP:0009895 IAO:0000115 An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear NOT_TRANSLATED -en nl HP:0009896 rdfs:label Abnormal antitragus morphology Afwijking van de anti-tragus CANDIDATE -en nl HP:0009896 IAO:0000115 An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch NOT_TRANSLATED -en nl HP:0009897 rdfs:label Horizontal crus of helix Horizontale crus helicis CANDIDATE -en nl HP:0009897 IAO:0000115 An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly NOT_TRANSLATED -en nl HP:0009898 rdfs:label Underdeveloped crus of the helix Onderontwikkelde crus helicis CANDIDATE -en nl HP:0009898 IAO:0000115 Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average NOT_TRANSLATED -en nl HP:0009899 rdfs:label Prominent crus of helix Prominente crus helicis CANDIDATE -en nl HP:0009899 IAO:0000115 The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix NOT_TRANSLATED -en nl HP:0009900 rdfs:label Unilateral deafness Unilaterale doofheid CANDIDATE -en nl HP:0009900 IAO:0000115 A unilateral absence of sensory perception of sound A unilateral absence of sensory perception of sound NOT_TRANSLATED -en nl HP:0009901 rdfs:label Crumpled ear Verfrommeld oor CANDIDATE -en nl HP:0009901 IAO:0000115 Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds NOT_TRANSLATED -en nl HP:0009902 rdfs:label Cleft helix Gespleten helix CANDIDATE -en nl HP:0009902 IAO:0000115 A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length NOT_TRANSLATED -en nl HP:0009903 rdfs:label Conjunctival nodule Conjunctivale nodulus CANDIDATE -en nl HP:0009903 IAO:0000115 Presence of nodules in the conjunctiva of the eye Presence of nodules in the conjunctiva of the eye NOT_TRANSLATED -en nl HP:0009904 rdfs:label Prominent ear helix Prominente helix CANDIDATE -en nl HP:0009904 IAO:0000115 Abnormally prominent ear helix Abnormally prominent ear helix NOT_TRANSLATED -en nl HP:0009905 rdfs:label Thin ear helix Dunne helix CANDIDATE -en nl HP:0009905 IAO:0000115 Decreased thickness of the helix of the ear Decreased thickness of the helix of the ear NOT_TRANSLATED -en nl HP:0009906 rdfs:label Aplasia/Hypoplasia of the earlobes Aplasia/hypoplasie van de oorlellen CANDIDATE -en nl HP:0009906 IAO:0000115 Absence or underdevelopment of the ear lobes Absence or underdevelopment of the ear lobes NOT_TRANSLATED -en nl HP:0009907 rdfs:label Attached earlobe Aangesloten oorlel CANDIDATE -en nl HP:0009907 IAO:0000115 Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward NOT_TRANSLATED -en nl HP:0009908 rdfs:label Anterior creases of earlobe Anterieure plooien van oorlel CANDIDATE -en nl HP:0009908 IAO:0000115 Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe NOT_TRANSLATED -en nl HP:0009909 rdfs:label Uplifted earlobe Verheven oorlel CANDIDATE -en nl HP:0009909 IAO:0000115 An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly NOT_TRANSLATED -en nl HP:0009910 rdfs:label Aplasia of the middle ear ossicles Aplasie van de middenoorbeentjes CANDIDATE -en nl HP:0009910 IAO:0000115 Absence of the middle ear ossicles, malleus, incus, and stapes Absence of the middle ear ossicles, malleus, incus, and stapes NOT_TRANSLATED -en nl HP:0009911 rdfs:label Abnormal temporal bone morphology Afwijking van os temporale CANDIDATE -en nl HP:0009911 IAO:0000115 Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple NOT_TRANSLATED -en nl HP:0009912 rdfs:label Abnormal tragus morphology Afwijking van de tragus CANDIDATE -en nl HP:0009912 IAO:0000115 An abnormality of the tragus An abnormality of the tragus NOT_TRANSLATED -en nl HP:0009913 rdfs:label Aplasia/Hypoplasia of the tragus Aplasia/hypoplasie van de tragus CANDIDATE -en nl HP:0009913 IAO:0000115 Aplasia or developmental hypoplasia of the tragus Aplasia or developmental hypoplasia of the tragus NOT_TRANSLATED -en nl HP:0009914 rdfs:label Cyclopia Cyclopie CANDIDATE -en nl HP:0009914 IAO:0000115 Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose NOT_TRANSLATED -en nl HP:0009915 rdfs:label Corneal asymmetry Corneale asymmetrie CANDIDATE -en nl HP:0009915 IAO:0000115 The presence of a size difference between the left and right cornea The presence of a size difference between the left and right cornea NOT_TRANSLATED -en nl HP:0009916 rdfs:label Anisocoria Anisocorie CANDIDATE -en nl HP:0009916 IAO:0000115 Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease NOT_TRANSLATED -en nl HP:0009917 rdfs:label Persistent pupillary membrane Persisterende pupillaire membranen CANDIDATE -en nl HP:0009917 IAO:0000115 The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil NOT_TRANSLATED -en nl HP:0009918 rdfs:label Ectopia pupillae Ectopia pupillae CANDIDATE -en nl HP:0009918 IAO:0000115 A malposition of the pupil owing to a developmental defect of the iris A malposition of the pupil owing to a developmental defect of the iris NOT_TRANSLATED -en nl HP:0009919 rdfs:label Retinoblastoma Retinoblastoom CANDIDATE -en nl HP:0009919 IAO:0000115 A tumor of the eye originating from cells of the retina A tumor of the eye originating from cells of the retina NOT_TRANSLATED -en nl HP:0009920 rdfs:label Nevus of Ota Naevus van Ota CANDIDATE -en nl HP:0009920 IAO:0000115 A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera NOT_TRANSLATED -en nl HP:0009921 rdfs:label Duane anomaly Duane syndroom CANDIDATE -en nl HP:0009921 IAO:0000115 A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction NOT_TRANSLATED -en nl HP:0009922 rdfs:label Vascular remnant arising from the disc Vascular remnant arising from the disc NOT_TRANSLATED -en nl HP:0009922 IAO:0000115 Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth NOT_TRANSLATED -en nl HP:0009924 rdfs:label Aplasia/Hypoplasia involving the nose Aplasia/Hypoplasie waarbij neus betrokken is CANDIDATE -en nl HP:0009924 IAO:0000115 Underdevelopment or absence of the nose or parts thereof Underdevelopment or absence of the nose or parts thereof NOT_TRANSLATED -en nl HP:0009926 rdfs:label Epiphora Epiphora CANDIDATE -en nl HP:0009926 IAO:0000115 Abnormally increased lacrimation, that is, excessive tearing (watering eye) Abnormally increased lacrimation, that is, excessive tearing (watering eye) NOT_TRANSLATED -en nl HP:0009927 rdfs:label Aplasia of the nose Aplasie van de neus CANDIDATE -en nl HP:0009927 IAO:0000115 Complete absence of all nasal structures Complete absence of all nasal structures NOT_TRANSLATED -en nl HP:0009928 rdfs:label Thick nasal alae Dikke alae nasi CANDIDATE -en nl HP:0009928 IAO:0000115 Increase in bulk of the ala nasi Increase in bulk of the ala nasi NOT_TRANSLATED -en nl HP:0009929 rdfs:label Abnormal columella morphology Afwijking van de columella CANDIDATE -en nl HP:0009929 IAO:0000115 A structural abnormality of the columella A structural abnormality of the columella NOT_TRANSLATED -en nl HP:0009930 rdfs:label Asymmetry of the nares Asymmetrie van de neusgaten CANDIDATE -en nl HP:0009930 IAO:0000115 Asymmetry or size difference between the left and right nostril Asymmetry or size difference between the left and right nostril NOT_TRANSLATED -en nl HP:0009931 rdfs:label Enlarged naris Vergrote neusgaten CANDIDATE -en nl HP:0009931 IAO:0000115 Increased aperture of the nostril Increased aperture of the nostril NOT_TRANSLATED -en nl HP:0009932 rdfs:label Single naris Enkel neusgat CANDIDATE -en nl HP:0009932 IAO:0000115 The presence of only a single nostril The presence of only a single nostril NOT_TRANSLATED -en nl HP:0009933 rdfs:label Narrow naris Smal neusgat CANDIDATE -en nl HP:0009933 IAO:0000115 Slender, slit-like aperture of the nostril Slender, slit-like aperture of the nostril NOT_TRANSLATED -en nl HP:0009934 rdfs:label Supernumerary naris Extra neusgat CANDIDATE -en nl HP:0009934 IAO:0000115 The presence of more than two nostrils The presence of more than two nostrils NOT_TRANSLATED -en nl HP:0009935 rdfs:label Aplasia/Hypoplasia of the nasal septum Aplasia/hypoplasie van het septum nasi CANDIDATE -en nl HP:0009935 IAO:0000115 Absence or underdevelopment of the nasal septum Absence or underdevelopment of the nasal septum NOT_TRANSLATED -en nl HP:0009936 rdfs:label Narrow nasal septum Smal septum nasi CANDIDATE -en nl HP:0009936 IAO:0000115 Abnormally narrow nasal septum Abnormally narrow nasal septum NOT_TRANSLATED -en nl HP:0009937 rdfs:label Facial hirsutism Faciaal hirsutisme CANDIDATE -en nl HP:0009937 IAO:0000115 Excess facial hair Excess facial hair NOT_TRANSLATED -en nl HP:0009938 rdfs:label Sunken cheeks Diepliggende wangen CANDIDATE -en nl HP:0009938 IAO:0000115 Lack or loss of the soft tissues between the zygomata and mandible Lack or loss of the soft tissues between the zygomata and mandible NOT_TRANSLATED -en nl HP:0009939 rdfs:label Mandibular aplasia Mandibulaire aplasie CANDIDATE -en nl HP:0009939 IAO:0000115 Absence of the mandible Absence of the mandible NOT_TRANSLATED -en nl HP:0009940 rdfs:label Asymmetry of the mandible Asymmetrie van de mandibula CANDIDATE -en nl HP:0009940 IAO:0000115 Lack of symmetry between the left and right mandible Lack of symmetry between the left and right mandible NOT_TRANSLATED -en nl HP:0009941 rdfs:label Asymmetry of the mouth Asymmetrie van de mond CANDIDATE -en nl HP:0009941 IAO:0000115 The presence of an asymmetric mouth The presence of an asymmetric mouth NOT_TRANSLATED -en nl HP:0009942 rdfs:label Duplication of thumb phalanx Duplicatie van duim falanx CANDIDATE -en nl HP:0009942 IAO:0000115 Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0009943 rdfs:label Complete duplication of thumb phalanx Complete duplicatie van falanx van duim CANDIDATE -en nl HP:0009943 IAO:0000115 A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED -en nl HP:0009944 rdfs:label Partial duplication of thumb phalanx Partiële duplicatie van falanx van duim CANDIDATE -en nl HP:0009944 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0009945 rdfs:label Duplication of phalanx of 2nd finger Duplicatie van falanx van 2e vinger CANDIDATE -en nl HP:0009945 IAO:0000115 This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0009946 rdfs:label Polydactyly affecting the 2nd finger Polydactylie van de 2e vinger CANDIDATE -en nl HP:0009947 rdfs:label Duplication of the proximal phalanx of the 2nd finger Duplicatie van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009947 IAO:0000115 Partial or complete duplication of the second proximal phalanx of hand Partial or complete duplication of the second proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009948 rdfs:label Duplication of the distal phalanx of the 2nd finger Duplicatie van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009948 IAO:0000115 Partial or complete duplication of the distal phalanx of index finger Partial or complete duplication of the distal phalanx of index finger NOT_TRANSLATED -en nl HP:0009949 rdfs:label Duplication of the middle phalanx of the 2nd finger Duplicatie van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009949 IAO:0000115 Partial or complete duplication of the middle phalanx of index finger Partial or complete duplication of the middle phalanx of index finger NOT_TRANSLATED -en nl HP:0009950 rdfs:label Complete duplication of the distal phalanx of the 2nd finger Complete duplicatie van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009950 IAO:0000115 Complete duplication of the distal phalanx of index finger Complete duplication of the distal phalanx of index finger NOT_TRANSLATED -en nl HP:0009951 rdfs:label Partial duplication of the distal phalanx of the 2nd finger Partiële duplicatie van de distale falanx van de 2e vinger CANDIDATE -en nl HP:0009951 IAO:0000115 Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009952 rdfs:label Complete duplication of the middle phalanx of the 2nd finger Complete duplicatie van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009952 IAO:0000115 Complete duplication of the middle phalanx of index finger Complete duplication of the middle phalanx of index finger NOT_TRANSLATED -en nl HP:0009953 rdfs:label Partial duplication of the middle phalanx of the 2nd finger Partiële duplicatie van de middelste falanx van de 2e vinger CANDIDATE -en nl HP:0009953 IAO:0000115 Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009954 rdfs:label Complete duplication of the proximal phalanx of the 2nd finger Complete duplicatie van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009954 IAO:0000115 Complete duplication of the second proximal phalanx of hand Complete duplication of the second proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009955 rdfs:label Partial duplication of the proximal phalanx of the 2nd finger Partiële duplicatie van de proximale falanx van de 2e vinger CANDIDATE -en nl HP:0009955 IAO:0000115 Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009956 rdfs:label Partial duplication of the phalanges of the 2nd finger Partiële duplicatie van de falangen van de 2e vinger CANDIDATE -en nl HP:0009956 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0009957 rdfs:label Complete duplication of the phalanges of the 2nd finger Complete duplicatie van de falangen van de 2e vinger CANDIDATE -en nl HP:0009957 IAO:0000115 A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED -en nl HP:0009958 rdfs:label Polydactyly affecting the 3rd finger Polydactylie van de 3e vinger CANDIDATE -en nl HP:0009959 rdfs:label Duplication of phalanx of 3rd finger Duplicatie van falanx van 3e vinger CANDIDATE -en nl HP:0009959 IAO:0000115 This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0009960 rdfs:label Complete duplication of the phalanges of the 3rd finger Complete duplicatie van de falangen van de 3e vinger CANDIDATE -en nl HP:0009960 IAO:0000115 A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED -en nl HP:0009961 rdfs:label Partial duplication of the phalanges of the 3rd finger Partiële duplicatie van de falangen van de 3e vinger CANDIDATE -en nl HP:0009961 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0009962 rdfs:label Duplication of the distal phalanx of the 3rd finger Duplicatie van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009962 IAO:0000115 Partial or complete duplication of the distal phalanx of middle finger Partial or complete duplication of the distal phalanx of middle finger NOT_TRANSLATED -en nl HP:0009963 rdfs:label Duplication of the middle phalanx of the 3rd finger Duplicatie van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009963 IAO:0000115 Partial or complete duplication of the middle phalanx of middle finger Partial or complete duplication of the middle phalanx of middle finger NOT_TRANSLATED -en nl HP:0009964 rdfs:label Duplication of the proximal phalanx of the 3rd finger Duplicatie van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009964 IAO:0000115 Partial or complete duplication of the third proximal phalanx of hand Partial or complete duplication of the third proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009965 rdfs:label Complete duplication of the distal phalanx of the 3rd finger Complete duplicatie van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009965 IAO:0000115 Complete duplication of the distal phalanx of middle finger Complete duplication of the distal phalanx of middle finger NOT_TRANSLATED -en nl HP:0009966 rdfs:label Complete duplication of the middle phalanx of the 3rd finger Complete duplicatie van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009966 IAO:0000115 Complete duplication of the middle phalanx of middle finger Complete duplication of the middle phalanx of middle finger NOT_TRANSLATED -en nl HP:0009967 rdfs:label Complete duplication of the proximal phalanx of the 3rd finger Complete duplicatie van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009967 IAO:0000115 Complete duplication of the third proximal phalanx of hand Complete duplication of the third proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009968 rdfs:label Partial duplication of the distal phalanx of the 3rd finger Partiële duplicatie van de distale falanx van de 3e vinger CANDIDATE -en nl HP:0009968 IAO:0000115 Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009969 rdfs:label Partial duplication of the middle phalanx of the 3rd finger Partiële duplicatie van de middelste falanx van de 3e vinger CANDIDATE -en nl HP:0009969 IAO:0000115 Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009970 rdfs:label Partial duplication of the proximal phalanx of the 3rd finger Partiële duplicatie van de proximale falanx van de 3e vinger CANDIDATE -en nl HP:0009970 IAO:0000115 Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009971 rdfs:label Polydactyly affecting the 4th finger Polydactylie van de 4e vinger CANDIDATE -en nl HP:0009972 rdfs:label Duplication of phalanx of 4th finger Duplicatie van falanx van 4e vinger CANDIDATE -en nl HP:0009972 IAO:0000115 This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0009973 rdfs:label Complete duplication of the phalanges of the 4th finger Complete duplicatie van de falangen van de 4e vinger CANDIDATE -en nl HP:0009973 IAO:0000115 A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED -en nl HP:0009974 rdfs:label Partial duplication of the phalanges of the 4th finger Partiële duplicatie van de falangen van de 4e vinger CANDIDATE -en nl HP:0009974 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0009975 rdfs:label Duplication of the distal phalanx of the 4th finger Duplicatie van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009975 IAO:0000115 Partial or complete duplication of the distal phalanx of ring finger Partial or complete duplication of the distal phalanx of ring finger NOT_TRANSLATED -en nl HP:0009976 rdfs:label Duplication of the middle phalanx of the 4th finger Duplicatie van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009976 IAO:0000115 Partial or complete duplication of the middle phalanx of ring finger Partial or complete duplication of the middle phalanx of ring finger NOT_TRANSLATED -en nl HP:0009977 rdfs:label Duplication of the proximal phalanx of the 4th finger Duplicatie van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009977 IAO:0000115 Partial or complete duplication of the fourth proximal phalanx of hand Partial or complete duplication of the fourth proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009978 rdfs:label Complete duplication of the distal phalanx of the 4th finger Complete duplicatie van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009978 IAO:0000115 Complete duplication of the distal phalanx of ring finger Complete duplication of the distal phalanx of ring finger NOT_TRANSLATED -en nl HP:0009979 rdfs:label Complete duplication of the middle phalanx of the 4th finger Complete duplicatie van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009979 IAO:0000115 Complete duplication of the middle phalanx of ring finger Complete duplication of the middle phalanx of ring finger NOT_TRANSLATED -en nl HP:0009980 rdfs:label Complete duplication of the proximal phalanx of the 4th finger Complete duplicatie van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009980 IAO:0000115 Complete duplication of the fourth proximal phalanx of hand Complete duplication of the fourth proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009981 rdfs:label Partial duplication of the distal phalanx of the 4th finger Partiële duplicatie van de distale falanx van de 4e vinger CANDIDATE -en nl HP:0009981 IAO:0000115 Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009982 rdfs:label Partial duplication of the middle phalanx of the 4th finger Partiële duplicatie van de middelste falanx van de 4e vinger CANDIDATE -en nl HP:0009982 IAO:0000115 Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009983 rdfs:label Partial duplication of the proximal phalanx of the 4th finger Partiële duplicatie van de proximale falanx van de 4e vinger CANDIDATE -en nl HP:0009983 IAO:0000115 Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009985 rdfs:label Duplication of phalanx of 5th finger Duplicatie van falanx van 5e vinger CANDIDATE -en nl HP:0009985 IAO:0000115 This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0009986 rdfs:label Complete duplication of the phalanges of the 5th finger Complete duplicatie van de falangen van de 5e vinger CANDIDATE -en nl HP:0009986 IAO:0000115 A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED -en nl HP:0009987 rdfs:label Partial duplication of the phalanges of the 5th finger Partiële duplicatie van de falangen van de 5e vinger CANDIDATE -en nl HP:0009987 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0009988 rdfs:label Duplication of the distal phalanx of the 5th finger Duplicatie van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009988 IAO:0000115 Partial or complete duplication of the distal phalanx of little finger Partial or complete duplication of the distal phalanx of little finger NOT_TRANSLATED -en nl HP:0009989 rdfs:label Duplication of the middle phalanx of the 5th finger Duplicatie van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009989 IAO:0000115 Partial or complete duplication of the fifth middle phalanx of hand Partial or complete duplication of the fifth middle phalanx of hand NOT_TRANSLATED -en nl HP:0009990 rdfs:label Duplication of the proximal phalanx of the 5th finger Duplicatie van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009990 IAO:0000115 Partial or complete duplication of the fifth proximal phalanx of hand Partial or complete duplication of the fifth proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009991 rdfs:label Complete duplication of the distal phalanx of the 5th finger Complete duplicatie van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009991 IAO:0000115 Complete duplication of the distal phalanx of little finger Complete duplication of the distal phalanx of little finger NOT_TRANSLATED -en nl HP:0009992 rdfs:label Complete duplication of the middle phalanx of the 5th finger Complete duplicatie van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009992 IAO:0000115 Complete duplication of the fifth middle phalanx of hand Complete duplication of the fifth middle phalanx of hand NOT_TRANSLATED -en nl HP:0009993 rdfs:label Complete duplication of the proximal phalanx of the 5th finger Complete duplicatie van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009993 IAO:0000115 Complete duplication of the fifth proximal phalanx of hand Complete duplication of the fifth proximal phalanx of hand NOT_TRANSLATED -en nl HP:0009994 rdfs:label Partial duplication of the distal phalanx of the 5th finger Partiële duplicatie van de distale falanx van de 5e vinger CANDIDATE -en nl HP:0009994 IAO:0000115 Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009995 rdfs:label Partial duplication of the middle phalanx of the 5th finger Partiële duplicatie van de middelste falanx van de 5e vinger CANDIDATE -en nl HP:0009995 IAO:0000115 Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009996 rdfs:label Partial duplication of the proximal phalanx of the 5th finger Partiële duplicatie van de proximale falanx van de 5e vinger CANDIDATE -en nl HP:0009996 IAO:0000115 Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED -en nl HP:0009997 rdfs:label Duplication of phalanx of hand Duplicatie van falanx van hand CANDIDATE -en nl HP:0009997 IAO:0000115 This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0009998 rdfs:label Complete duplication of phalanx of hand Complete duplicatie van falanx van hand CANDIDATE -en nl HP:0009998 IAO:0000115 A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED -en nl HP:0009999 rdfs:label Partial duplication of the phalanx of hand Partiële duplicatie van falanx van hand CANDIDATE -en nl HP:0009999 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0010000 rdfs:label Complete duplication of the proximal phalanges of the hand Complete duplicatie van de proximale falangen van de hand CANDIDATE -en nl HP:0010000 IAO:0000115 A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED -en nl HP:0010001 rdfs:label Complete duplication of the distal phalanges of the hand Complete duplicatie van de distale falangen van de hand CANDIDATE -en nl HP:0010001 IAO:0000115 A complete duplication affecting one or more of the distal phalanges of the hand A complete duplication affecting one or more of the distal phalanges of the hand NOT_TRANSLATED -en nl HP:0010002 rdfs:label Complete duplication of the middle phalanges of the hand Complete duplicatie van de middelste falangen van de hand CANDIDATE -en nl HP:0010002 IAO:0000115 A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism NOT_TRANSLATED -en nl HP:0010003 rdfs:label Partial duplication of the proximal phalanges of the hand Partiële duplicatie van de proximale falangen van de hand CANDIDATE -en nl HP:0010003 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0010004 rdfs:label Partial duplication of the distal phalanges of the hand Partiële duplicatie van de distale falangen van de hand CANDIDATE -en nl HP:0010004 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0010005 rdfs:label Partial duplication of the middle phalanges of the hand Partiële duplicatie van de middelste falangen van de hand CANDIDATE -en nl HP:0010005 IAO:0000115 A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED -en nl HP:0010006 rdfs:label Duplication of the proximal phalanx of hand Duplicatie van de proximale falanx van hand CANDIDATE -en nl HP:0010006 IAO:0000115 This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0010008 rdfs:label Duplication of the middle phalanx of hand Duplicatie van de middelste falanx van hand CANDIDATE -en nl HP:0010008 IAO:0000115 This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED -en nl HP:0010009 rdfs:label Abnormal 1st metacarpal morphology Afwijking van de 1 metacarpaal CANDIDATE -en nl HP:0010009 IAO:0000115 A structural anomaly of the first metacarpal A structural anomaly of the first metacarpal NOT_TRANSLATED -en nl HP:0010010 rdfs:label Abnormal 2nd metacarpal morphology Afwijking van de 2e metacarpaal CANDIDATE -en nl HP:0010010 IAO:0000115 Any abnormality of the second metacarpal bone Any abnormality of the second metacarpal bone NOT_TRANSLATED -en nl HP:0010011 rdfs:label Abnormal 3rd metacarpal morphology Afwijking van de 3e metacarpaal CANDIDATE -en nl HP:0010011 IAO:0000115 Any abnormality of the third metacarpal bone Any abnormality of the third metacarpal bone NOT_TRANSLATED -en nl HP:0010012 rdfs:label Abnormal 4th metacarpal morphology Afwijking van de 4 metacarpaal CANDIDATE -en nl HP:0010012 IAO:0000115 Any abnormality of the fourth metacarpal bone Any abnormality of the fourth metacarpal bone NOT_TRANSLATED -en nl HP:0010013 rdfs:label Abnormal 5th metacarpal morphology Afwijking van de 5e metacarpaal CANDIDATE -en nl HP:0010013 IAO:0000115 Any abnormality of the fifth metacarpal bone Any abnormality of the fifth metacarpal bone NOT_TRANSLATED -en nl HP:0010014 rdfs:label Abnormality of the epiphysis of the 1st metacarpal Afwijking van de epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010014 IAO:0000115 In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays NOT_TRANSLATED -en nl HP:0010015 rdfs:label Absent epiphysis of the 1st metacarpal Afwezige epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010016 rdfs:label Bracket epiphysis of the 1st metacarpal Haakvormige epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010016 IAO:0000115 An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate NOT_TRANSLATED -en nl HP:0010017 rdfs:label Cone-shaped epiphysis of the 1st metacarpal Kegel-vormige epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010017 IAO:0000115 A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance NOT_TRANSLATED -en nl HP:0010018 rdfs:label Enlarged epiphysis of the 1st metacarpal Vergrote epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010018 IAO:0000115 Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0010019 rdfs:label Fragmentation of the epiphysis of the 1st metacarpal Fragmentatie van de epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010019 IAO:0000115 Epiphysis of the 1st metacarpal having multiple bony fragments Epiphysis of the 1st metacarpal having multiple bony fragments NOT_TRANSLATED -en nl HP:0010020 rdfs:label Irregular epiphysis of the 1st metacarpal Irregulaire epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010020 IAO:0000115 Uneven radiographic opacity of the epiphysis of the 1st metacarpal Uneven radiographic opacity of the epiphysis of the 1st metacarpal NOT_TRANSLATED -en nl HP:0010021 rdfs:label Ivory epiphysis of the 1st metacarpal Ivoren epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010021 IAO:0000115 The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0010022 rdfs:label Pseudoepiphysis of the 1st metacarpal Pseudo-epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010022 IAO:0000115 The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal NOT_TRANSLATED -en nl HP:0010023 rdfs:label Small epiphysis of the 1st metacarpal Kleine epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010023 IAO:0000115 Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0010024 rdfs:label Epiphyseal stippling of the first metacarpal Epifsyaire vlekkerige calcificaties van eerste metacarpaal CANDIDATE -en nl HP:0010024 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone NOT_TRANSLATED -en nl HP:0010025 rdfs:label Triangular epiphysis of the 1st metacarpal Driehoekige epifyse van de 1e metacarpaal CANDIDATE -en nl HP:0010026 rdfs:label Aplasia/Hypoplasia of the 1st metacarpal Aplasia/Hypoplasie van de 1e metacarpaal CANDIDATE -en nl HP:0010026 IAO:0000115 Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) NOT_TRANSLATED -en nl HP:0010027 rdfs:label Broad 1st metacarpal Brede 1e metacarpaal CANDIDATE -en nl HP:0010027 IAO:0000115 Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED -en nl HP:0010028 rdfs:label Bullet-shaped 1st metacarpal Kogel-vormige 1e metacarpaal CANDIDATE -en nl HP:0010028 IAO:0000115 "The presence of short and wide 1st metacarpal which tapers distally (""bullet shaped"")" "The presence of short and wide 1st metacarpal which tapers distally (""bullet shaped"")" NOT_TRANSLATED -en nl HP:0010029 rdfs:label Curved 1st metacarpal Gebogen 1e metacarpaal CANDIDATE -en nl HP:0010029 IAO:0000115 A deviation from the normal straight shape of the first metacarpal A deviation from the normal straight shape of the first metacarpal NOT_TRANSLATED -en nl HP:0010030 rdfs:label Osteolytic defects of the 1st metacarpal Osteolytische defecten van de 1e metacarpaal CANDIDATE -en nl HP:0010030 IAO:0000115 Dissolution or degeneration of bone tissue of the 1st metacarpal Dissolution or degeneration of bone tissue of the 1st metacarpal NOT_TRANSLATED -en nl HP:0010031 rdfs:label Patchy sclerosis of the 1st metacarpal Fragementarische sclerose van de 1e metacarpaal CANDIDATE -en nl HP:0010031 IAO:0000115 Uneven increase in bone density within the 1st metacarpal Uneven increase in bone density within the 1st metacarpal NOT_TRANSLATED -en nl HP:0010033 rdfs:label Triangular shaped 1st metacarpal Driehoekige 1e metacarpaal CANDIDATE -en nl HP:0010033 IAO:0000115 This term applies to a triangular shaped 1st metacarpal This term applies to a triangular shaped 1st metacarpal NOT_TRANSLATED -en nl HP:0010034 rdfs:label Short 1st metacarpal Korte 1e metacarpaal CANDIDATE -en nl HP:0010034 IAO:0000115 A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand NOT_TRANSLATED -en nl HP:0010035 rdfs:label Aplasia of the 1st metacarpal Aplasie van de 1e metacarpaal CANDIDATE -en nl HP:0010035 IAO:0000115 Absent first metacarpal (long bone) of the hand Absent first metacarpal (long bone) of the hand NOT_TRANSLATED -en nl HP:0010036 rdfs:label Aplasia/Hypoplasia of the 2nd metacarpal Aplasia/Hypoplasie van de 2e metacarpaal CANDIDATE -en nl HP:0010036 IAO:0000115 Aplasia or Hypoplasia affecting the 2nd metacarpal Aplasia or Hypoplasia affecting the 2nd metacarpal NOT_TRANSLATED -en nl HP:0010037 rdfs:label Aplasia of the 2nd metacarpal Aplasie van de 2e metacarpaal CANDIDATE -en nl HP:0010037 IAO:0000115 Absence of the second long bone of the hand Absence of the second long bone of the hand NOT_TRANSLATED -en nl HP:0010038 rdfs:label Short 2nd metacarpal Korte 2e metacarpaal CANDIDATE -en nl HP:0010038 IAO:0000115 Short second metacarpal bone because of developmental hypoplasia Short second metacarpal bone because of developmental hypoplasia NOT_TRANSLATED -en nl HP:0010039 rdfs:label Aplasia/Hypoplasia of the 3rd metacarpal Aplasia/Hypoplasie van de 3e metacarpaal CANDIDATE -en nl HP:0010039 IAO:0000115 Aplasia or Hypoplasia affecting the 3rd metacarpal Aplasia or Hypoplasia affecting the 3rd metacarpal NOT_TRANSLATED -en nl HP:0010040 rdfs:label Aplasia of the 3rd metacarpal Aplasie van de 3e metacarpaal CANDIDATE -en nl HP:0010040 IAO:0000115 Absence of the third long bone of the hand Absence of the third long bone of the hand NOT_TRANSLATED -en nl HP:0010041 rdfs:label Short 3rd metacarpal Korte 3e metacarpaal CANDIDATE -en nl HP:0010041 IAO:0000115 Short third metacarpal bone Short third metacarpal bone NOT_TRANSLATED -en nl HP:0010042 rdfs:label Aplasia/Hypoplasia of the 4th metacarpal Aplasia/Hypoplasie van de 4e metacarpaal CANDIDATE -en nl HP:0010042 IAO:0000115 Aplasia or Hypoplasia affecting the 4th metacarpal Aplasia or Hypoplasia affecting the 4th metacarpal NOT_TRANSLATED -en nl HP:0010043 rdfs:label Aplasia of the 4th metacarpal Aplasie van de 4e metacarpaal CANDIDATE -en nl HP:0010043 IAO:0000115 Absence of the fourth long bone of the hand Absence of the fourth long bone of the hand NOT_TRANSLATED -en nl HP:0010044 rdfs:label Short 4th metacarpal Korte 4e metacarpaal CANDIDATE -en nl HP:0010044 IAO:0000115 Short fourth metacarpal bone Short fourth metacarpal bone NOT_TRANSLATED -en nl HP:0010045 rdfs:label Aplasia/Hypoplasia of the 5th metacarpal Aplasia/Hypoplasie van de 5e metacarpaal CANDIDATE -en nl HP:0010045 IAO:0000115 Aplasia or Hypoplasia affecting the 5th metacarpal Aplasia or Hypoplasia affecting the 5th metacarpal NOT_TRANSLATED -en nl HP:0010046 rdfs:label Aplasia of the 5th metacarpal Aplasie van de 5e metacarpaal CANDIDATE -en nl HP:0010046 IAO:0000115 Absence of the fifth long bone of the hand Absence of the fifth long bone of the hand NOT_TRANSLATED -en nl HP:0010047 rdfs:label Short 5th metacarpal Korte 5e metacarpaal CANDIDATE -en nl HP:0010047 IAO:0000115 Short fifth metacarpal bone Short fifth metacarpal bone NOT_TRANSLATED -en nl HP:0010048 rdfs:label Aplasia of metacarpal bones Aplasie van metacarpale botten CANDIDATE -en nl HP:0010048 IAO:0000115 Developmental defect associated with absence of one or more metacarpal bones Developmental defect associated with absence of one or more metacarpal bones NOT_TRANSLATED -en nl HP:0010049 rdfs:label Short metacarpal Korte metacarpaal CANDIDATE -en nl HP:0010049 IAO:0000115 Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal NOT_TRANSLATED -en nl HP:0010051 rdfs:label Deviation of the hallux Deviatie van de hallux CANDIDATE -en nl HP:0010051 IAO:0000115 Displacement of the big toe from its normal position Displacement of the big toe from its normal position NOT_TRANSLATED -en nl HP:0010052 rdfs:label Abnormal morphology of the proximal phalanx of the hallux Afwijking van de proximale falanx van de hallux CANDIDATE -en nl HP:0010052 IAO:0000115 An abnormal shape or form of the proximal phalanx of the big toe An abnormal shape or form of the proximal phalanx of the big toe NOT_TRANSLATED -en nl HP:0010053 rdfs:label Abnormality of the distal phalanx of the hallux Afwijking van de distale falanx van de hallux CANDIDATE -en nl HP:0010054 rdfs:label Abnormality of the first metatarsal bone Afwijking van het eerste metatarsale bot CANDIDATE -en nl HP:0010054 IAO:0000115 An anomaly of the first metatarsal bone An anomaly of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010055 rdfs:label Broad hallux Brede hallux CANDIDATE -en nl HP:0010055 IAO:0000115 Visible increase in width of the hallux without an increase in the dorso-ventral dimension Visible increase in width of the hallux without an increase in the dorso-ventral dimension NOT_TRANSLATED -en nl HP:0010056 rdfs:label Abnormality of the epiphyses of the hallux Afwijking van de epifysen van de hallux CANDIDATE -en nl HP:0010057 rdfs:label Abnormal hallux phalanx morphology Afwijking van de falangen van de hallux CANDIDATE -en nl HP:0010058 rdfs:label Aplasia/Hypoplasia of the phalanges of the hallux Aplasie/Hypoplasie van de falangen van de hallux CANDIDATE -en nl HP:0010059 rdfs:label Broad hallux phalanx Breed falanx van hallux CANDIDATE -en nl HP:0010059 IAO:0000115 An increase in width in one or more phalanges of the big toe An increase in width in one or more phalanges of the big toe NOT_TRANSLATED -en nl HP:0010060 rdfs:label Bullet-shaped hallux phalanx Kogel-vormig falanx van de hallux CANDIDATE -en nl HP:0010060 IAO:0000115 An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010061 rdfs:label Curved hallux phalanx Gebogen falanx van hallux CANDIDATE -en nl HP:0010061 IAO:0000115 A deviation from the normal straight form of one or more phalanges of the big toe A deviation from the normal straight form of one or more phalanges of the big toe NOT_TRANSLATED -en nl HP:0010062 rdfs:label Osteolytic defects of the phalanges of the hallux Osteolytische defecten van de falangen van de hallux CANDIDATE -en nl HP:0010063 rdfs:label Patchy sclerosis of hallux phalanx Fragmentarische sclerose van falanx van hallux CANDIDATE -en nl HP:0010063 IAO:0000115 Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010064 rdfs:label Symphalangism affecting the phalanges of the hallux Symfalangisme van de falangen van de hallux CANDIDATE -en nl HP:0010065 rdfs:label Triangular shaped phalanges of the hallux Driehoekige falangen van de hallux CANDIDATE -en nl HP:0010066 rdfs:label Duplication of phalanx of hallux Duplicatie van falanx van hallux CANDIDATE -en nl HP:0010066 IAO:0000115 Partial or complete duplication of one or more phalanx of big toe Partial or complete duplication of one or more phalanx of big toe NOT_TRANSLATED -en nl HP:0010067 rdfs:label Aplasia/hypoplasia of the 1st metatarsal Aplasia/hypoplasie van de 1e metatarsaal CANDIDATE -en nl HP:0010067 IAO:0000115 Absence or underdevelopment of the first metatarsal bone Absence or underdevelopment of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010068 rdfs:label Broad first metatarsal Brede eerste metatarsaal CANDIDATE -en nl HP:0010068 IAO:0000115 Increased side-to-side width of the first metatarsal bone Increased side-to-side width of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010069 rdfs:label Bullet-shaped 1st metatarsal Kogel-vormige 1e metatarsaal CANDIDATE -en nl HP:0010069 IAO:0000115 An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010070 rdfs:label Curved 1st metatarsal Gebogen 1e metatarsaal CANDIDATE -en nl HP:0010070 IAO:0000115 A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone NOT_TRANSLATED -en nl HP:0010071 rdfs:label Osteolytic defects of the 1st metatarsal Osteolytische defecten van de 1e metatarsaal CANDIDATE -en nl HP:0010071 IAO:0000115 Dissolution or degeneration of bone tissue of the first metatarsal Dissolution or degeneration of bone tissue of the first metatarsal NOT_TRANSLATED -en nl HP:0010072 rdfs:label Patchy sclerosis of the 1st metatarsal Fragementarische sclerose van de 1e metatarsaal CANDIDATE -en nl HP:0010073 rdfs:label Synostosis involving the 1st metatarsal Synostose waarbij de 1e metatarsaal betrokken is CANDIDATE -en nl HP:0010074 rdfs:label Triangular shaped 1st metatarsal Driehoekige 1e metatarsaal CANDIDATE -en nl HP:0010075 rdfs:label Duplication of the 1st metatarsal Duplicatie van de 1e metatarsaal CANDIDATE -en nl HP:0010075 IAO:0000115 A developmental defect consisting in the duplication of the first metatarsal bone A developmental defect consisting in the duplication of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010076 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the hallux Aplasie/Hypoplasie van de distale falanx van de hallux CANDIDATE -en nl HP:0010077 rdfs:label Broad distal phalanx of the hallux Brede distale falanx van de hallux CANDIDATE -en nl HP:0010077 IAO:0000115 An increase in width of the distal phalanx of the big toe An increase in width of the distal phalanx of the big toe NOT_TRANSLATED -en nl HP:0010078 rdfs:label Bullet-shaped distal phalanx of the hallux Kogel-vormige distale falanx van de hallux CANDIDATE -en nl HP:0010078 IAO:0000115 An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010079 rdfs:label Curved distal phalanx of the hallux Gebogen distale falanx van de hallux CANDIDATE -en nl HP:0010079 IAO:0000115 A deviation from the normal straight form of the distal phalanx of the big toe A deviation from the normal straight form of the distal phalanx of the big toe NOT_TRANSLATED -en nl HP:0010080 rdfs:label Osteolytic defects of the distal phalanx of the hallux Osteolytisch defect van de distale falanx van de hallux CANDIDATE -en nl HP:0010081 rdfs:label Patchy sclerosis of the distal phalanx of the hallux Fragmentarische sclerose van de distale falanx van de hallux CANDIDATE -en nl HP:0010082 rdfs:label Symphalangism affecting the distal phalanx of the hallux Symfalangisme van de distale falanx van de hallux CANDIDATE -en nl HP:0010083 rdfs:label Triangular shaped distal phalanx of the hallux Driehoekige distale falanx van de hallux CANDIDATE -en nl HP:0010084 rdfs:label Duplication of the distal phalanx of the hallux Duplicatie van de distale falanx van de hallux CANDIDATE -en nl HP:0010085 rdfs:label Aplasia/Hypoplasia of the proximal phalanx of the hallux Aplasie/Hypoplasie van de proximale falanx van de hallux CANDIDATE -en nl HP:0010086 rdfs:label Broad proximal phalanx of the hallux Brede proximale falanx van de hallux CANDIDATE -en nl HP:0010086 IAO:0000115 Increased width of proximal phalanx of big toe Increased width of proximal phalanx of big toe NOT_TRANSLATED -en nl HP:0010087 rdfs:label Bullet-shaped proximal phalanx of the hallux Kogel-vormige proximale falanx van de hallux CANDIDATE -en nl HP:0010087 IAO:0000115 An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010088 rdfs:label Curved proximal phalanx of the hallux Gebogen proximale falanx van de hallux CANDIDATE -en nl HP:0010088 IAO:0000115 A deviation from the normal straight form of the proximal phalanx of the big toe A deviation from the normal straight form of the proximal phalanx of the big toe NOT_TRANSLATED -en nl HP:0010089 rdfs:label Osteolytic defects of the proximal phalanx of the hallux Osteolytische defecten van de proximale falanx van de hallux CANDIDATE -en nl HP:0010090 rdfs:label Patchy sclerosis of the proximal phalanx of the hallux Fragmentarische sclerose van de proximale falanx van de hallux CANDIDATE -en nl HP:0010091 rdfs:label Symphalangism affecting the proximal phalanx of the hallux Symfalangisme van de proximale falanx van de hallux CANDIDATE -en nl HP:0010092 rdfs:label Triangular shaped proximal phalanx of the hallux Driehoekige proximale falanx van de hallux CANDIDATE -en nl HP:0010093 rdfs:label Duplication of the proximal phalanx of the hallux Duplicatie van de proximale falanx van de hallux CANDIDATE -en nl HP:0010093 IAO:0000115 Partial or complete duplication of the proximal phalanx of big toe Partial or complete duplication of the proximal phalanx of big toe NOT_TRANSLATED -en nl HP:0010094 rdfs:label Complete duplication of the proximal phalanx of the hallux Complete duplicatie van de proximale falanx van de hallux CANDIDATE -en nl HP:0010094 IAO:0000115 Complete duplication of the proximal phalanx of big toe Complete duplication of the proximal phalanx of big toe NOT_TRANSLATED -en nl HP:0010095 rdfs:label Partial duplication of the proximal phalanx of the hallux Partiële duplicatie van de proximale falanx van de hallux CANDIDATE -en nl HP:0010095 IAO:0000115 Partial duplication of the proximal phalanx of big toe Partial duplication of the proximal phalanx of big toe NOT_TRANSLATED -en nl HP:0010096 rdfs:label Complete duplication of the distal phalanx of the hallux Complete duplicatie van de distale falanx van de hallux CANDIDATE -en nl HP:0010097 rdfs:label Partial duplication of the distal phalanx of the hallux Partiële duplicatie van de distale falanx van de hallux CANDIDATE -en nl HP:0010098 rdfs:label Complete duplication of the 1st metatarsal Complete duplicatie van de 1e metatarsaal CANDIDATE -en nl HP:0010098 IAO:0000115 A developmental defect consisting in the complete duplication of the first metatarsal bone A developmental defect consisting in the complete duplication of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010099 rdfs:label Partial duplication of the 1st metatarsal Partiële duplicatie van de 1e metatarsaal CANDIDATE -en nl HP:0010099 IAO:0000115 A developmental defect consisting in the duplication of part of the first metatarsal bone A developmental defect consisting in the duplication of part of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010100 rdfs:label Complete duplication of hallux phalanx Complete duplicatie van falanx van hallux CANDIDATE -en nl HP:0010100 IAO:0000115 Complete duplication of one or more phalanx of big toe Complete duplication of one or more phalanx of big toe NOT_TRANSLATED -en nl HP:0010101 rdfs:label Partial duplication of the phalanges of the hallux Partiële duplicatie van de falangen van de hallux CANDIDATE -en nl HP:0010102 rdfs:label Aplasia of the distal phalanx of the hallux Aplasie van de distale falanx van de hallux CANDIDATE -en nl HP:0010103 rdfs:label Short distal phalanx of hallux Korte distale falanx van hallux CANDIDATE -en nl HP:0010103 IAO:0000115 Underdevelopment (hypoplasia) of the distal phalanx of big toe Underdevelopment (hypoplasia) of the distal phalanx of big toe NOT_TRANSLATED -en nl HP:0010104 rdfs:label Absent first metatarsal Afwezige eerste metatarsaal CANDIDATE -en nl HP:0010104 IAO:0000115 A developmental defect characterized by the absence of the first metatarsal bone A developmental defect characterized by the absence of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010105 rdfs:label Short first metatarsal Korte eerste metatarsaal CANDIDATE -en nl HP:0010105 IAO:0000115 Short first metatarsal bone Short first metatarsal bone NOT_TRANSLATED -en nl HP:0010106 rdfs:label Aplasia of the proximal phalanx of the hallux Aplasie van de proximale falanx van de hallux CANDIDATE -en nl HP:0010107 rdfs:label Short proximal phalanx of hallux Korte proximale falanx van hallux CANDIDATE -en nl HP:0010107 IAO:0000115 Underdevelopment (hypoplasia) of the proximal phalanx of big toe Underdevelopment (hypoplasia) of the proximal phalanx of big toe NOT_TRANSLATED -en nl HP:0010109 rdfs:label Short hallux Korte hallux CANDIDATE -en nl HP:0010109 IAO:0000115 Underdevelopment (hypoplasia) of the big toe Underdevelopment (hypoplasia) of the big toe NOT_TRANSLATED -en nl HP:0010110 rdfs:label Aplasia of the phalanges of the hallux Aplasie van de falangen van de hallux CANDIDATE -en nl HP:0010111 rdfs:label Short phalanx of hallux Kort falanx van hallux CANDIDATE -en nl HP:0010111 IAO:0000115 Underdevelopment (hypoplasia) of a phalanx of big toe Underdevelopment (hypoplasia) of a phalanx of big toe NOT_TRANSLATED -en nl HP:0010112 rdfs:label Mesoaxial foot polydactyly Meso-axiale polydactylie van de voet CANDIDATE -en nl HP:0010112 IAO:0000115 The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly NOT_TRANSLATED -en nl HP:0010113 rdfs:label Absent hallux epiphysis Afwezige epifysen van hallux CANDIDATE -en nl HP:0010113 IAO:0000115 Failure to form (agenesis) of one or more epiphyses of the big toe Failure to form (agenesis) of one or more epiphyses of the big toe NOT_TRANSLATED -en nl HP:0010114 rdfs:label Bracket epiphyses of the hallux Haakvormige epifysen van de hallux CANDIDATE -en nl HP:0010115 rdfs:label Cone-shaped epiphyses of the hallux Kegel-vormige epifysen van de hallux CANDIDATE -en nl HP:0010116 rdfs:label Enlarged epiphyses of the hallux Vergrote epifysen van de hallux CANDIDATE -en nl HP:0010117 rdfs:label Fragmentation of the epiphyses of the hallux Fragmentatie van de epifysen van de hallux CANDIDATE -en nl HP:0010118 rdfs:label Irregular epiphyses of the hallux Irregulaire epifysen van de hallux CANDIDATE -en nl HP:0010119 rdfs:label Ivory epiphyses of the hallux Ivoren epifysen van de hallux CANDIDATE -en nl HP:0010120 rdfs:label Pseudoepiphyses of the hallux Pseudo-epifysen van de hallux CANDIDATE -en nl HP:0010121 rdfs:label Small epiphyses of the hallux Kleine epifysen van de hallux CANDIDATE -en nl HP:0010122 rdfs:label Stippling of the epiphyses of the hallux Vlekkerige calcificaties van de epifysen van de hallux CANDIDATE -en nl HP:0010122 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux NOT_TRANSLATED -en nl HP:0010123 rdfs:label Triangular epiphyses of the hallux Driehoekige epifysen van de hallux CANDIDATE -en nl HP:0010124 rdfs:label Abnormality of the epiphysis of the distal phalanx of the hallux Afwijking van de epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010125 rdfs:label Abnormality of the epiphysis of the 1st metatarsal Afwijking van de epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010125 IAO:0000115 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone NOT_TRANSLATED -en nl HP:0010126 rdfs:label Abnormality of the epiphysis of the proximal phalanx of the hallux Afwijking van de epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010126 IAO:0000115 In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux NOT_TRANSLATED -en nl HP:0010127 rdfs:label Absent epiphysis of the proximal phalanx of the hallux Afwezig epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010127 IAO:0000115 Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux NOT_TRANSLATED -en nl HP:0010128 rdfs:label Bracket epiphysis of the proximal phalanx of the hallux Haakvormige epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010128 IAO:0000115 The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form NOT_TRANSLATED -en nl HP:0010129 rdfs:label Cone-shaped epiphysis of the proximal phalanx of the hallux Kegel-vormige epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010130 rdfs:label Enlarged epiphysis of the proximal phalanx of the hallux Vergrote epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010131 rdfs:label Fragmentation of the epiphysis of the proximal phalanx of the hallux Fragmentatie van de epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010132 rdfs:label Irregular epiphysis of the proximal phalanx of the hallux Onregelmatige epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010133 rdfs:label Ivory epiphysis of the proximal phalanx of the hallux Ivoren epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010134 rdfs:label Pseudoepiphysis of the proximal phalanx of the hallux Pseudo-epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010134 IAO:0000115 A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe NOT_TRANSLATED -en nl HP:0010135 rdfs:label Small epiphysis of the proximal phalanx of the hallux Kleine epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010136 rdfs:label Stippling of the epiphysis of the proximal phalanx of the hallux Vlekkerige calcificaties van de epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010136 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux NOT_TRANSLATED -en nl HP:0010137 rdfs:label Triangular epiphysis of the proximal phalanx of the hallux Driehoekige epifyse van de proximale falanx van de hallux CANDIDATE -en nl HP:0010138 rdfs:label Absent epiphysis of the distal phalanx of the hallux Afwezig epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010138 IAO:0000115 Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux NOT_TRANSLATED -en nl HP:0010139 rdfs:label Bracket epiphysis of the distal phalanx of the hallux Haakvormige epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010139 IAO:0000115 The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form NOT_TRANSLATED -en nl HP:0010140 rdfs:label Cone-shaped epiphysis of the distal phalanx of the hallux Kegel-vormige epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010141 rdfs:label Enlarged epiphysis of the distal phalanx of the hallux Vergrote epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010142 rdfs:label Fragmentation of the epiphysis of the distal phalanx of the hallux Fragmentatie van de epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010143 rdfs:label Irregular epiphysis of the distal phalanx of the hallux Onregelmatige epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010144 rdfs:label Ivory epiphysis of the distal phalanx of the hallux Ivoren epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010145 rdfs:label Pseudoepiphysis of the distal phalanx of the hallux Pseudo-epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010146 rdfs:label Small epiphysis of the distal phalanx of the hallux Kleine epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010147 rdfs:label Stippling of the epiphysis of the distal phalanx of the hallux Vlekkerige calcificaties van de epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010147 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux NOT_TRANSLATED -en nl HP:0010148 rdfs:label Triangular epiphysis of the distal phalanx of the hallux Driehoekige epifyse van de distale falanx van de hallux CANDIDATE -en nl HP:0010149 rdfs:label Absent epiphysis of the 1st metatarsal Afwezige epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010149 IAO:0000115 Failure to form (agenesis) of the epiphysis of the 1st metatarsal Failure to form (agenesis) of the epiphysis of the 1st metatarsal NOT_TRANSLATED -en nl HP:0010150 rdfs:label Bracket epiphysis of the 1st metatarsal Haakvormige epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010150 IAO:0000115 The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form NOT_TRANSLATED -en nl HP:0010151 rdfs:label Cone-shaped epiphysis of the 1st metatarsal Kegel-vormige epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010151 IAO:0000115 A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot NOT_TRANSLATED -en nl HP:0010152 rdfs:label Enlarged epiphysis of the 1st metatarsal Vergrote epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010153 rdfs:label Fragmentation of the epiphysis of the 1st metatarsal Fragmentatie van de epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010154 rdfs:label Irregular epiphysis of the 1st metatarsal Irregulaire epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010155 rdfs:label Ivory epiphysis of the 1st metatarsal Ivoren epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010155 IAO:0000115 The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0010156 rdfs:label Pseudoepiphysis of the 1st metatarsal Pseudo-epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010157 rdfs:label Small epiphysis of the 1st metatarsal Kleine epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010158 rdfs:label Stippling of the epiphysis of the 1st metatarsal Vlekkerige calcificaties van de epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010159 rdfs:label Triangular epiphysis of the 1st metatarsal Driehoekige epifyse van de 1e metatarsaal CANDIDATE -en nl HP:0010160 rdfs:label Abnormality of the epiphyses of the toes Afwijking van de epifysen van de tenen CANDIDATE -en nl HP:0010161 rdfs:label Abnormality of the phalanges of the toes Afwijking van de falangen van de tenen CANDIDATE -en nl HP:0010162 rdfs:label Absent epiphyses of the toes Afwezig epifysen van de tenen CANDIDATE -en nl HP:0010162 IAO:0000115 Absence of the epiphyses of the phalanges of the toes Absence of the epiphyses of the phalanges of the toes NOT_TRANSLATED -en nl HP:0010163 rdfs:label Bracket epiphyses of the toes Haakvormige epifysen van de tenen CANDIDATE -en nl HP:0010164 rdfs:label Cone-shaped epiphyses of the toes Kegel-vormige epifysen van de tenen CANDIDATE -en nl HP:0010165 rdfs:label Enlarged epiphyses of the toes Vergrote epifysen van de tenen CANDIDATE -en nl HP:0010166 rdfs:label Fragmentation of the epiphyses of the toes Fragmentatie van de epifysen van de tenen CANDIDATE -en nl HP:0010167 rdfs:label Irregular epiphyses of the toes Onregelmatige epifyses van de tenen CANDIDATE -en nl HP:0010168 rdfs:label Ivory epiphyses of the toes Ivoren epifysen van de tenen CANDIDATE -en nl HP:0010169 rdfs:label Pseudoepiphyses of the toes Pseudo-epifyses van de tenen CANDIDATE -en nl HP:0010170 rdfs:label Small epiphyses of the toes Kleine epifyses van de tenen CANDIDATE -en nl HP:0010171 rdfs:label Epiphyseal stippling of toe phalanges Epifsyaire vlekkerige calcificaties van teenfalangen CANDIDATE -en nl HP:0010171 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes NOT_TRANSLATED -en nl HP:0010172 rdfs:label Triangular epiphyses of the toes Driehoekige epifyses van de tenen CANDIDATE -en nl HP:0010173 rdfs:label Aplasia/Hypoplasia of the phalanges of the toes Aplasie/Hypoplasie van de falangen van de tenen CANDIDATE -en nl HP:0010174 rdfs:label Broad phalanx of the toes Brede falangen van de tenen CANDIDATE -en nl HP:0010174 IAO:0000115 Increased width of phalanx of one or more toes Increased width of phalanx of one or more toes NOT_TRANSLATED -en nl HP:0010175 rdfs:label Bullet-shaped toe phalanx Kogel-vormig falanx van teen CANDIDATE -en nl HP:0010175 IAO:0000115 An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010176 rdfs:label Curved toe phalanx Gebogen falanx van teen CANDIDATE -en nl HP:0010176 IAO:0000115 A deviation from the normal straight form of one or more toe phalanges A deviation from the normal straight form of one or more toe phalanges NOT_TRANSLATED -en nl HP:0010177 rdfs:label Osteolytic defects of the phalanges of the toes Osteolytische defecten van de falangen van de tenen CANDIDATE -en nl HP:0010178 rdfs:label Patchy sclerosis of toe phalanx Fragmentarische sclerose van falanx van teen CANDIDATE -en nl HP:0010178 IAO:0000115 Uneven (irregular) increase in bone density of one or more of the phalanges of the foot Uneven (irregular) increase in bone density of one or more of the phalanges of the foot NOT_TRANSLATED -en nl HP:0010179 rdfs:label Symphalangism affecting the phalanges of the toes Symfalangisme van de teenfalangen CANDIDATE -en nl HP:0010180 rdfs:label Triangular shaped phalanges of the toes Driehoekige teenfalangen CANDIDATE -en nl HP:0010181 rdfs:label Duplication of phalanx of toe Duplicatie van falanx van teen CANDIDATE -en nl HP:0010181 IAO:0000115 Partial/complete duplication of one or more phalanx of toe Partial/complete duplication of one or more phalanx of toe NOT_TRANSLATED -en nl HP:0010182 rdfs:label Abnormality of the distal phalanges of the toes Afwijking van de distale falangen van de tenen CANDIDATE -en nl HP:0010183 rdfs:label Abnormality of the middle phalanges of the toes Afwijking van de middelste falangen van de tenen CANDIDATE -en nl HP:0010184 rdfs:label Abnormality of toe proximal phalanx Afwijking van het proximale falanx van teen CANDIDATE -en nl HP:0010184 IAO:0000115 A morphological anomaly of one or more proximal phalanges of one or more toes A morphological anomaly of one or more proximal phalanges of one or more toes NOT_TRANSLATED -en nl HP:0010185 rdfs:label Aplasia/Hypoplasia of the distal phalanges of the toes Aplasie/Hypoplasie van de distale falangen van de tenen CANDIDATE -en nl HP:0010185 IAO:0000115 Absence or underdevelopment of the distal phalanges of the toes Absence or underdevelopment of the distal phalanges of the toes NOT_TRANSLATED -en nl HP:0010186 rdfs:label Broad distal phalanx of the toes Brede distale falanx van de tenen CANDIDATE -en nl HP:0010186 IAO:0000115 Increased width of the distal phalanx of toe of one or more toes Increased width of the distal phalanx of toe of one or more toes NOT_TRANSLATED -en nl HP:0010187 rdfs:label Bullet-shaped distal toe phalanx Kogel-vormige distale falanx van teen CANDIDATE -en nl HP:0010187 IAO:0000115 An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010188 rdfs:label Curved distal toe phalanx Gebogen distale falanx van teen CANDIDATE -en nl HP:0010188 IAO:0000115 A deviation from the normal straight form of one or more distal toe phalanges A deviation from the normal straight form of one or more distal toe phalanges NOT_TRANSLATED -en nl HP:0010189 rdfs:label Osteolytic defects of the distal phalanges of the toes Osteolytische defecten van de distale falangen van de tenen CANDIDATE -en nl HP:0010190 rdfs:label Patchy sclerosis of distal toe phalanx Fragmentarische sclerose van distale falanx van teen CANDIDATE -en nl HP:0010190 IAO:0000115 Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010191 rdfs:label Symphalangism affecting the distal phalanges of the toes Symfalangisme van de distale teenfalangen CANDIDATE -en nl HP:0010192 rdfs:label Triangular shaped distal phalanges of the toes Driehoekige distale falangen van de tenen CANDIDATE -en nl HP:0010193 rdfs:label Duplication of distal phalanx of toe Duplicatie van distale falanx van teen CANDIDATE -en nl HP:0010193 IAO:0000115 A partial or complete duplication of one or more distal phalanx of toe A partial or complete duplication of one or more distal phalanx of toe NOT_TRANSLATED -en nl HP:0010194 rdfs:label Aplasia/Hypoplasia of the middle phalanges of the toes Aplasie/Hypoplasie van de middelste falangen van de tenen CANDIDATE -en nl HP:0010195 rdfs:label Broad middle phalanges of the toes Brede middelste falangen van de tenen CANDIDATE -en nl HP:0010196 rdfs:label Bullet-shaped middle toe phalanx Kogel-vormig falanx van de middelste teen CANDIDATE -en nl HP:0010196 IAO:0000115 An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010197 rdfs:label Curved middle toe phalanx Gebogen middelste falanx van teen CANDIDATE -en nl HP:0010197 IAO:0000115 A deviation from the normal straight form of one or more middle toe phalanges A deviation from the normal straight form of one or more middle toe phalanges NOT_TRANSLATED -en nl HP:0010198 rdfs:label Osteolytic defects of the middle phalanges of the toes Osteolytische defecten van de middelste falangen van de tenen CANDIDATE -en nl HP:0010199 rdfs:label Patchy sclerosis of middle toe phalanx Fragmentarische sclerose van middelste falanx van teen CANDIDATE -en nl HP:0010199 IAO:0000115 Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010200 rdfs:label Symphalangism affecting the middle phalanges of the toes Symfalangisme van de middelste teenfalangen CANDIDATE -en nl HP:0010201 rdfs:label Triangular shaped middle phalanges of the toes Driehoekige middelste falangen van de tenen CANDIDATE -en nl HP:0010202 rdfs:label Duplication of middle phalanx of toe Duplicatie van middelste falanx van teen CANDIDATE -en nl HP:0010202 IAO:0000115 Partial or complete duplication of a middle phalanx of toe Partial or complete duplication of a middle phalanx of toe NOT_TRANSLATED -en nl HP:0010203 rdfs:label Aplasia/hypoplasia of proximal toe phalanx Aplasie/hypoplasie van proximale teen falanx CANDIDATE -en nl HP:0010203 IAO:0000115 Absence (agenesis) or underdevelopment of the proximal phalanx of the toe Absence (agenesis) or underdevelopment of the proximal phalanx of the toe NOT_TRANSLATED -en nl HP:0010204 rdfs:label Broad proximal phalanx of toe Brede proximale falanx van de teen CANDIDATE -en nl HP:0010204 IAO:0000115 An increase in width of one ore more proximal toe phalanges An increase in width of one ore more proximal toe phalanges NOT_TRANSLATED -en nl HP:0010205 rdfs:label Bullet-shaped proximal toe phalanx Kogel-vormige proximale falanx van teen CANDIDATE -en nl HP:0010205 IAO:0000115 An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010206 rdfs:label Curved proximal toe phalanx Gebogen proximale falanx van teen CANDIDATE -en nl HP:0010206 IAO:0000115 A deviation from the normal straight shape of a proximal phalanx of one or more toes A deviation from the normal straight shape of a proximal phalanx of one or more toes NOT_TRANSLATED -en nl HP:0010207 rdfs:label Osteolytic defect of the proximal toe phalanx Osteolytisch defect van de proximale falanx van teen CANDIDATE -en nl HP:0010207 IAO:0000115 Dissolution or degeneration of bone tissue of the proximal toe phalanx Dissolution or degeneration of bone tissue of the proximal toe phalanx NOT_TRANSLATED -en nl HP:0010208 rdfs:label Patchy sclerosis of proximal toe phalanx Fragmentarische sclerose van proximale falanx van teen CANDIDATE -en nl HP:0010208 IAO:0000115 Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010209 rdfs:label Symphalangism affecting the proximal phalanges of the toes Symfalangisme van de proximale falangen van tenen CANDIDATE -en nl HP:0010210 rdfs:label Triangular shaped proximal phalanges of the toes Driehoekige proximale falangen van de tenen CANDIDATE -en nl HP:0010211 rdfs:label Duplication of proximal phalanx of toe Duplicatie van proximale falanx van teen CANDIDATE -en nl HP:0010211 IAO:0000115 Partial/complete duplication of a proximal phalanx of toe Partial/complete duplication of a proximal phalanx of toe NOT_TRANSLATED -en nl HP:0010212 rdfs:label Flexion contracture of the hallux Flexiecontractuur van de hallux CANDIDATE -en nl HP:0010212 IAO:0000115 One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0010213 rdfs:label Contracture of the tarsometatarsal joint of the hallux Contractuur van het tarsometatarsale gewricht van de hallux CANDIDATE -en nl HP:0010213 IAO:0000115 Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints NOT_TRANSLATED -en nl HP:0010214 rdfs:label Contracture of the interphalangeal joint of the hallux Contractuur van het interfalangeale gewricht van de hallux CANDIDATE -en nl HP:0010214 IAO:0000115 The interphalangeal joint of the big toe cannot be straightened actively or passively The interphalangeal joint of the big toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0010215 rdfs:label Contractures of the metatarsophalangeal joint of the hallux Contracturen van het metatarsofalangeale gewricht van de hallux CANDIDATE -en nl HP:0010215 IAO:0000115 The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0010219 rdfs:label Structural foot deformity Structurele voet deformiteit CANDIDATE -en nl HP:0010219 IAO:0000115 A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies NOT_TRANSLATED -en nl HP:0010220 rdfs:label Abnormality of the epiphysis of the 2nd metacarpal Afwijking van de epifyse van de 2e metacarpaal CANDIDATE -en nl HP:0010220 IAO:0000115 Any abnormality of the epiphysis of the second metacarpal bone Any abnormality of the epiphysis of the second metacarpal bone NOT_TRANSLATED -en nl HP:0010222 rdfs:label Abnormality of the epiphysis of the 3rd metacarpal Afwijking van de epifyse van de 3e metacarpaal CANDIDATE -en nl HP:0010222 IAO:0000115 Any abnormality of the epiphysis of the third metacarpal bone Any abnormality of the epiphysis of the third metacarpal bone NOT_TRANSLATED -en nl HP:0010223 rdfs:label Pseudoepiphysis of the 3rd metacarpal Pseudo-epifyse van de 3e metacarpaal CANDIDATE -en nl HP:0010223 IAO:0000115 The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED -en nl HP:0010224 rdfs:label Abnormality of the epiphysis of the 4th metacarpal Afwijking van de epifyse van de 4e metacarpaal CANDIDATE -en nl HP:0010224 IAO:0000115 Any abnormality of the epiphysis of the 4th metacarpal bone Any abnormality of the epiphysis of the 4th metacarpal bone NOT_TRANSLATED -en nl HP:0010225 rdfs:label Pseudoepiphysis of the 4th metacarpal Pseudo-epifyse van de 4e metacarpaal CANDIDATE -en nl HP:0010225 IAO:0000115 The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED -en nl HP:0010226 rdfs:label Abnormality of the epiphysis of the 5th metacarpal Afwijking van de epifyse van de 5e metacarpaal CANDIDATE -en nl HP:0010226 IAO:0000115 Any abnormality of the epiphysis of the fifth metacarpal bone Any abnormality of the epiphysis of the fifth metacarpal bone NOT_TRANSLATED -en nl HP:0010227 rdfs:label Pseudoepiphysis of the 5th metacarpal Pseudo-epifyse van de 5e metacarpaal CANDIDATE -en nl HP:0010227 IAO:0000115 The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED -en nl HP:0010228 rdfs:label Absent epiphyses of the phalanges of the hand Afwezige epifysen van falangen van hand CANDIDATE -en nl HP:0010228 IAO:0000115 Absence of one or more epiphyses of the phalanges of the fingers Absence of one or more epiphyses of the phalanges of the fingers NOT_TRANSLATED -en nl HP:0010229 rdfs:label Bracket epiphyses of the phalanges of the hand Haakvormige epifysen van falangen van hand CANDIDATE -en nl HP:0010229 IAO:0000115 Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0010230 rdfs:label Cone-shaped epiphyses of the phalanges of the hand Kegel-vormige epifysen van falangen van hand CANDIDATE -en nl HP:0010230 IAO:0000115 A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED -en nl HP:0010231 rdfs:label Enlarged epiphyses of the phalanges of the hand Vergrote epifysen van falangen van hand CANDIDATE -en nl HP:0010231 IAO:0000115 Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0010232 rdfs:label Fragmentation of the epiphyses of the phalanges of the hand Fragementatie van de epifysen van falangen van hand CANDIDATE -en nl HP:0010232 IAO:0000115 Fragmented appearance of the epiphyses of the phalanges of the fingers Fragmented appearance of the epiphyses of the phalanges of the fingers NOT_TRANSLATED -en nl HP:0010233 rdfs:label Irregular epiphyses of the phalanges of the hand Irregulaire epifysen van falangen van hand CANDIDATE -en nl HP:0010233 IAO:0000115 Irregular radiographic opacity of the epiphyses of the phalanges of the fingers Irregular radiographic opacity of the epiphyses of the phalanges of the fingers NOT_TRANSLATED -en nl HP:0010234 rdfs:label Ivory epiphyses of the phalanges of the hand Ivoren epifysen van falangen van hand CANDIDATE -en nl HP:0010234 IAO:0000115 Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0010235 rdfs:label Pseudoepiphyses of the phalanges of the hand Pseudo-epifysen van falangen van hand CANDIDATE -en nl HP:0010235 IAO:0000115 A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0010236 rdfs:label Small epiphyses of the phalanges of the hand Kleine epifysen van falangen van hand CANDIDATE -en nl HP:0010236 IAO:0000115 Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0010237 rdfs:label Epiphyseal stippling of finger phalanges Epifsyaire vlekkerige calcificaties van falangen van hand CANDIDATE -en nl HP:0010237 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers NOT_TRANSLATED -en nl HP:0010238 rdfs:label Triangular epiphyses of the phalanges of the hand Driehoekige epifysen van falangen van de hand CANDIDATE -en nl HP:0010238 IAO:0000115 A triangular appearance of the epiphyses of the phalanges of the fingers of the hand A triangular appearance of the epiphyses of the phalanges of the fingers of the hand NOT_TRANSLATED -en nl HP:0010239 rdfs:label Aplasia of the middle phalanx of the hand Aplasie van de middelste falanx van de hand CANDIDATE -en nl HP:0010239 IAO:0000115 Absence of one or more middle phalanx of a finger Absence of one or more middle phalanx of a finger NOT_TRANSLATED -en nl HP:0010241 rdfs:label Short proximal phalanx of finger Korte proximale falanx van vinger CANDIDATE -en nl HP:0010241 IAO:0000115 Congenital hypoplasia of one or more proximal phalanx of finger Congenital hypoplasia of one or more proximal phalanx of finger NOT_TRANSLATED -en nl HP:0010242 rdfs:label Aplasia of the proximal phalanges of the hand Aplasie van proximale falangen van hand CANDIDATE -en nl HP:0010243 rdfs:label Abnormality of the epiphyses of the distal phalanx of finger Afwijking van de epifysen van distale falanx van vinger CANDIDATE -en nl HP:0010243 IAO:0000115 Any anomaly of distal epiphysis of phalanx of finger Any anomaly of distal epiphysis of phalanx of finger NOT_TRANSLATED -en nl HP:0010244 rdfs:label Abnormality of the epiphyses of the middle phalanges of the hand Afwijking van de epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010245 rdfs:label Abnormality of the epiphyses of the proximal phalanges of the hand Afwijking van de epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010246 rdfs:label Absent epiphyses of the distal phalanges of the hand Afwezige epifysen van distale falangen van hand CANDIDATE -en nl HP:0010247 rdfs:label Bracket epiphyses of the distal phalanges of the hand Haakvormige epifysen van distale falangen van hand CANDIDATE -en nl HP:0010247 IAO:0000115 An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0010248 rdfs:label Cone-shaped epiphyses of the distal phalanges of the hand Kegel-vormige epifysen van distale falangen van hand CANDIDATE -en nl HP:0010249 rdfs:label Enlarged epiphyses of the distal phalanges of the hand Vergrote epifysen van distale falangen van hand CANDIDATE -en nl HP:0010250 rdfs:label Fragmentation of the epiphyses of the distal phalanges of the hand Fragementatie van de epifysen van distale falangen van hand CANDIDATE -en nl HP:0010251 rdfs:label Irregular epiphyses of the distal phalanges of the hand Irregulaire epifysen van distale falangen van hand CANDIDATE -en nl HP:0010252 rdfs:label Ivory epiphyses of the distal phalanges of the hand Ivoren epifysen van distale falangen van hand CANDIDATE -en nl HP:0010252 IAO:0000115 Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0010253 rdfs:label Pseudoepiphyses of the distal phalanges of the hand Pseudo-epifysen van distale falangen van hand CANDIDATE -en nl HP:0010253 IAO:0000115 A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0010254 rdfs:label Small epiphyses of the distal phalanges of the hand Kleine epifysen van distale falangen van hand CANDIDATE -en nl HP:0010255 rdfs:label Stippling of the epiphyses of the distal phalanges of the hand Vlekkerige calcificaties van de epifysen van distale falangen van hand CANDIDATE -en nl HP:0010256 rdfs:label Triangular epiphyses of the distal phalanges of the hand Driehoekige epifysen van distale falangen van hand CANDIDATE -en nl HP:0010257 rdfs:label Absent epiphyses of the middle phalanges of the hand Afwezige epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010258 rdfs:label Bracket epiphyses of the middle phalanges of the hand Haakvormige epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010258 IAO:0000115 An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0010259 rdfs:label Cone-shaped epiphyses of the middle phalanges of the hand Kegel-vormige epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010260 rdfs:label Enlarged epiphyses of the middle phalanges of the hand Vergrote epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010261 rdfs:label Fragmentation of the epiphyses of the middle phalanges of the hand Fragementatie van de epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010261 IAO:0000115 Fragmented appearance of the epiphyses of the middle phalanges of the hand Fragmented appearance of the epiphyses of the middle phalanges of the hand NOT_TRANSLATED -en nl HP:0010262 rdfs:label Irregular epiphyses of the middle phalanges of the hand Irregulaire epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010263 rdfs:label Ivory epiphyses of the middle phalanges of the hand Ivoren epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010263 IAO:0000115 Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0010264 rdfs:label Pseudoepiphyses of the middle phalanges of the hand Pseudo-epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010264 IAO:0000115 A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0010265 rdfs:label Small epiphyses of the middle phalanges of the hand Kleine epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010266 rdfs:label Stippling of the epiphyses of the middle phalanges of the hand Vlekkerige calcificaties van de epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010267 rdfs:label Triangular epiphyses of the middle phalanges of the hand Driehoekige epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010268 rdfs:label Absent epiphyses of the proximal phalanges of the hand Afwezige epifysen van middelste falangen van hand CANDIDATE -en nl HP:0010269 rdfs:label Bracket epiphyses of the proximal phalanges of the hand Haakvormige epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010269 IAO:0000115 An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED -en nl HP:0010270 rdfs:label Cone-shaped epiphyses of the proximal phalanges of the hand Kegel-vormige epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010271 rdfs:label Enlarged epiphyses of the proximal phalanges of the hand Vergrote epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010272 rdfs:label Fragmentation of the epiphyses of the proximal phalanges of the hand Fragementatie van de epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010273 rdfs:label Irregular epiphyses of the proximal phalanges of the hand Irregulaire epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010274 rdfs:label Ivory epiphyses of the proximal phalanges of the hand Ivoren epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010274 IAO:0000115 Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED -en nl HP:0010275 rdfs:label Pseudoepiphyses of the proximal phalanges of the hand Pseudo-epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010275 IAO:0000115 A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED -en nl HP:0010276 rdfs:label Small epiphyses of the proximal phalanges of the hand Kleine epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010277 rdfs:label Stippling of the epiphyses of the proximal phalanges of the hand Vlekkerige calcificaties van de epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010278 rdfs:label Triangular epiphyses of the proximal phalanges of the hand Driehoekige epifysen van proximale falangen van hand CANDIDATE -en nl HP:0010280 rdfs:label Stomatitis Stomatitis CANDIDATE -en nl HP:0010280 IAO:0000115 Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth NOT_TRANSLATED -en nl HP:0010281 rdfs:label Cleft lower lip Gespleten onderlip CANDIDATE -en nl HP:0010281 IAO:0000115 A gap in the lower lip A gap in the lower lip NOT_TRANSLATED -en nl HP:0010282 rdfs:label Thin lower lip vermilion Dun onderliprood CANDIDATE -en nl HP:0010282 IAO:0000115 Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective) Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective) NOT_TRANSLATED -en nl HP:0010284 rdfs:label Intra-oral hyperpigmentation Intra-orale hyperpigmentatie CANDIDATE -en nl HP:0010284 IAO:0000115 Increased pigmentation, either focal or generalized, of the mucosa of the mouth Increased pigmentation, either focal or generalized, of the mucosa of the mouth NOT_TRANSLATED -en nl HP:0010285 rdfs:label Oral synechia Orale synechie CANDIDATE -en nl HP:0010285 IAO:0000115 Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges NOT_TRANSLATED -en nl HP:0010286 rdfs:label Abnormal salivary gland morphology Afwijkende speekselklier morfologie CANDIDATE -en nl HP:0010286 IAO:0000115 Any abnormality of the salivary glands, the exocrine glands that produce saliva Any abnormality of the salivary glands, the exocrine glands that produce saliva NOT_TRANSLATED -en nl HP:0010287 rdfs:label Abnormality of the submandibular glands Afwijking van de submandibulaire klieren CANDIDATE -en nl HP:0010287 IAO:0000115 Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles NOT_TRANSLATED -en nl HP:0010288 rdfs:label Abnormality of the sublingual glands Afwijking van de sublinguale klieren CANDIDATE -en nl HP:0010288 IAO:0000115 Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands NOT_TRANSLATED -en nl HP:0010289 rdfs:label Cleft of alveolar ridge of maxilla Cleft of alveolar ridge of maxilla NOT_TRANSLATED -en nl HP:0010289 IAO:0000115 A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth NOT_TRANSLATED -en nl HP:0010290 rdfs:label Short hard palate Kort hard palatum CANDIDATE -en nl HP:0010290 IAO:0000115 Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective) Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective) NOT_TRANSLATED -en nl HP:0010291 rdfs:label Prominent palatine ridges Prominent palatine ridges NOT_TRANSLATED -en nl HP:0010291 IAO:0000115 Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge NOT_TRANSLATED -en nl HP:0010292 rdfs:label Absent uvula Afwezige uvula CANDIDATE -en nl HP:0010292 IAO:0000115 Lack of the uvula Lack of the uvula NOT_TRANSLATED -en nl HP:0010293 rdfs:label Aplasia/Hypoplasia of the uvula Aplasia/Hypoplasie van de uvula CANDIDATE -en nl HP:0010293 IAO:0000115 Underdevelopment or absence of the uvula Underdevelopment or absence of the uvula NOT_TRANSLATED -en nl HP:0010294 rdfs:label Palate fistula Fistel van palatum CANDIDATE -en nl HP:0010294 IAO:0000115 A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate NOT_TRANSLATED -en nl HP:0010295 rdfs:label Aplasia/Hypoplasia of the tongue Aplasia/Hypoplasie van de tong CANDIDATE -en nl HP:0010295 IAO:0000115 Absence or underdevelopment of the tongue Absence or underdevelopment of the tongue NOT_TRANSLATED -en nl HP:0010296 rdfs:label Ankyloglossia Ankyloglossie CANDIDATE -en nl HP:0010296 IAO:0000115 Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue NOT_TRANSLATED -en nl HP:0010297 rdfs:label Bifid tongue Bifide tong CANDIDATE -en nl HP:0010297 IAO:0000115 Tongue with a median apical indentation or fork Tongue with a median apical indentation or fork NOT_TRANSLATED -en nl HP:0010298 rdfs:label Smooth tongue Gladde tong CANDIDATE -en nl HP:0010298 IAO:0000115 Glossy appearance of the entire tongue surface Glossy appearance of the entire tongue surface NOT_TRANSLATED -en nl HP:0010299 rdfs:label Abnormal dentin morphology Afwijking van dentine CANDIDATE -en nl HP:0010299 IAO:0000115 Any abnormality of dentin Any abnormality of dentin NOT_TRANSLATED -en nl HP:0010300 rdfs:label Abnormally low-pitched voice Afwijkende lage stem CANDIDATE -en nl HP:0010300 IAO:0000115 An abnormally low-pitched voice An abnormally low-pitched voice NOT_TRANSLATED -en nl HP:0010301 rdfs:label Spinal dysraphism Spinaal dysraphisme CANDIDATE -en nl HP:0010301 IAO:0000115 A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life NOT_TRANSLATED -en nl HP:0010302 rdfs:label Spinal cord tumor Spinaal neoplasma CANDIDATE -en nl HP:0010302 IAO:0000115 A neoplasm affecting the spinal cord A neoplasm affecting the spinal cord NOT_TRANSLATED -en nl HP:0010303 rdfs:label Abnormal spinal meningeal morphology Afwijking van de spinale meningen CANDIDATE -en nl HP:0010303 IAO:0000115 Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord NOT_TRANSLATED -en nl HP:0010304 rdfs:label Spinal meningeal diverticulum Spinaal meningeaal divertikel CANDIDATE -en nl HP:0010304 IAO:0000115 An outpouching of the spinal meninges An outpouching of the spinal meninges NOT_TRANSLATED -en nl HP:0010305 rdfs:label Absence of the sacrum Afwezigheid van het sacrum CANDIDATE -en nl HP:0010305 IAO:0000115 Absence (aplasia) of the sacrum Absence (aplasia) of the sacrum NOT_TRANSLATED -en nl HP:0010306 rdfs:label Short thorax Korte thorax CANDIDATE -en nl HP:0010306 IAO:0000115 Reduced inferior to superior extent of the thorax Reduced inferior to superior extent of the thorax NOT_TRANSLATED -en nl HP:0010307 rdfs:label Stridor Stridor CANDIDATE -en nl HP:0010307 IAO:0000115 Stridor is a high pitched sound resulting from turbulent air flow in the upper airway Stridor is a high pitched sound resulting from turbulent air flow in the upper airway NOT_TRANSLATED -en nl HP:0010308 rdfs:label Asternia Asternie CANDIDATE -en nl HP:0010308 IAO:0000115 The congenital absence of the sternum The congenital absence of the sternum NOT_TRANSLATED -en nl HP:0010309 rdfs:label Bifid sternum Bifide sternum CANDIDATE -en nl HP:0010309 IAO:0000115 The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum NOT_TRANSLATED -en nl HP:0010310 rdfs:label Chylothorax Chylothorax CANDIDATE -en nl HP:0010310 IAO:0000115 Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity NOT_TRANSLATED -en nl HP:0010311 rdfs:label Aplasia/Hypoplasia of the breasts Aplasia/Hypoplasie van de borsten CANDIDATE -en nl HP:0010311 IAO:0000115 Absence or underdevelopment of the breasts Absence or underdevelopment of the breasts NOT_TRANSLATED -en nl HP:0010312 rdfs:label Asymmetry of the breasts Asymmetrie van de borsten CANDIDATE -en nl HP:0010312 IAO:0000115 The presence of asymmetrical breasts The presence of asymmetrical breasts NOT_TRANSLATED -en nl HP:0010313 rdfs:label Breast hypertrophy Borst hypertrofie CANDIDATE -en nl HP:0010313 IAO:0000115 The presence of hypertrophy of the breast The presence of hypertrophy of the breast NOT_TRANSLATED -en nl HP:0010314 rdfs:label Premature thelarche Premature thelarche CANDIDATE -en nl HP:0010314 IAO:0000115 Premature development of the breasts Premature development of the breasts NOT_TRANSLATED -en nl HP:0010315 rdfs:label Aplasia/Hypoplasia of the diaphragm Aplasia/Hypoplasie van het diafragma CANDIDATE -en nl HP:0010315 IAO:0000115 Absence or underdevelopment of the diaphragm Absence or underdevelopment of the diaphragm NOT_TRANSLATED -en nl HP:0010316 rdfs:label Ebstein anomaly of the tricuspid valve Anomalie van Ebstein van tricuspidalisklep CANDIDATE -en nl HP:0010316 IAO:0000115 Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet NOT_TRANSLATED -en nl HP:0010317 rdfs:label Scapular aplasia Scapulaire aplasie CANDIDATE -en nl HP:0010317 IAO:0000115 Absence of the scapulae Absence of the scapulae NOT_TRANSLATED -en nl HP:0010318 rdfs:label Aplasia/Hypoplasia of the abdominal wall musculature Aplasie/Hypoplasie van de buikwand musculatuur CANDIDATE -en nl HP:0010318 IAO:0000115 Absence or underdevelopment of the abdominal musculature Absence or underdevelopment of the abdominal musculature NOT_TRANSLATED -en nl HP:0010319 rdfs:label Abnormality of the 2nd toe Afwijking van de 2e teen CANDIDATE -en nl HP:0010319 IAO:0000115 An anomaly of the second toe An anomaly of the second toe NOT_TRANSLATED -en nl HP:0010320 rdfs:label Abnormality of the 3rd toe Afwijking van de 3e teen CANDIDATE -en nl HP:0010320 IAO:0000115 An anomaly of the third toe An anomaly of the third toe NOT_TRANSLATED -en nl HP:0010321 rdfs:label Abnormality of the 4th toe Afwijking van de 4e teen CANDIDATE -en nl HP:0010321 IAO:0000115 An anomaly of the fourth toe An anomaly of the fourth toe NOT_TRANSLATED -en nl HP:0010322 rdfs:label Abnormality of the 5th toe Afwijking van de 5e teen CANDIDATE -en nl HP:0010322 IAO:0000115 An anomaly of the little toe An anomaly of the little toe NOT_TRANSLATED -en nl HP:0010323 rdfs:label Abnormality of the epiphyses of the 2nd toe Afwijking van de epifysen van de 2e teen CANDIDATE -en nl HP:0010324 rdfs:label Abnormal morphology of phalanx of the 2nd toe Afwijking van falanx van de 2e teen CANDIDATE -en nl HP:0010324 IAO:0000115 An anomaly of a phalanx of second toe An anomaly of a phalanx of second toe NOT_TRANSLATED -en nl HP:0010325 rdfs:label Aplasia/Hypoplasia of the 2nd toe Aplasie/Hypoplasie van 2e teen CANDIDATE -en nl HP:0010326 rdfs:label Deviation of the 2nd toe Deviatie van de 2e teen CANDIDATE -en nl HP:0010327 rdfs:label Flexion contracture of the 2nd toe Flexiecontractuur van de 2e teen CANDIDATE -en nl HP:0010327 IAO:0000115 One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0010328 rdfs:label Polydactyly affecting the 2nd toe Polydactylie van de 2e teen CANDIDATE -en nl HP:0010329 rdfs:label Abnormality of the epiphyses of the 3rd toe Afwijking van de epifysen van de 3e teen CANDIDATE -en nl HP:0010330 rdfs:label Abnormality of the phalanges of the 3rd toe Afwijking van de falangen van de 3e teen CANDIDATE -en nl HP:0010331 rdfs:label Aplasia/Hypoplasia of the 3rd toe Aplasie/Hypoplasie van 3e teen CANDIDATE -en nl HP:0010332 rdfs:label Deviation of the 3rd toe Deviatie van de 3e teen CANDIDATE -en nl HP:0010333 rdfs:label Flexion contracture of 3rd toe Flexiecontractuur van de 3e teen CANDIDATE -en nl HP:0010333 IAO:0000115 One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0010334 rdfs:label Polydactyly affecting the 3rd toe Polydactylie van de 3e teen CANDIDATE -en nl HP:0010335 rdfs:label Abnormality of the epiphyses of the 4th toe Afwijking van de epifysen van de 4e teen CANDIDATE -en nl HP:0010336 rdfs:label Abnormality of the phalanges of the 4th toe Afwijking van de falangen van de 4e teen CANDIDATE -en nl HP:0010337 rdfs:label Aplasia/Hypoplasia of the 4th toe Aplasie/Hypoplasie van 4e teen CANDIDATE -en nl HP:0010338 rdfs:label Deviation of the 4th toe Deviatie van de 4e teen CANDIDATE -en nl HP:0010339 rdfs:label Flexion contracture of the 4th toe Flexiecontractuur van de 4e teen CANDIDATE -en nl HP:0010339 IAO:0000115 One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0010340 rdfs:label Polydactyly affecting the 4th toe Polydactylie van de 4e teen CANDIDATE -en nl HP:0010341 rdfs:label Abnormality of the epiphyses of the 5th toe Afwijking van de epifysen van de 5e teen CANDIDATE -en nl HP:0010342 rdfs:label Abnormality of the phalanges of the 5th toe Afwijking van de falangen van de 5e teen CANDIDATE -en nl HP:0010343 rdfs:label Aplasia/Hypoplasia of the 5th toe Aplasie/Hypoplasie van 5e teen CANDIDATE -en nl HP:0010344 rdfs:label Deviation of the 5th toe Deviatie van de 5e teen CANDIDATE -en nl HP:0010345 rdfs:label Flexion contracture of the 5th toe Flexiecontractuur van de 5e teen CANDIDATE -en nl HP:0010345 IAO:0000115 One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively NOT_TRANSLATED -en nl HP:0010347 rdfs:label Aplasia/Hypoplasia of the phalanges of the 2nd toe Aplasie/Hypoplasie van de falangen van de 2e teen CANDIDATE -en nl HP:0010348 rdfs:label Broad phalanges of the 2nd toe Brede falangen van de 2e teen CANDIDATE -en nl HP:0010349 rdfs:label Bullet-shaped 2nd toe phalanx Kogel-vormig falanx van de 2e teen CANDIDATE -en nl HP:0010349 IAO:0000115 An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010350 rdfs:label Curved 2nd toe phalanx Gebogen falanx van de 2e teen CANDIDATE -en nl HP:0010350 IAO:0000115 A deviation from the normal straight form of one or more phalanges of the second toe A deviation from the normal straight form of one or more phalanges of the second toe NOT_TRANSLATED -en nl HP:0010351 rdfs:label Osteolytic defects of the phalanges of the 2nd toe Osteolytische defecten van de falangen van de 2e teen CANDIDATE -en nl HP:0010352 rdfs:label Patchy sclerosis of 2nd toe phalanx Fragmentarische sclerose van falanx van de 2e teen CANDIDATE -en nl HP:0010352 IAO:0000115 Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010353 rdfs:label Second toe symphalangism Symfalangisme van de falangen van de 2e teen CANDIDATE -en nl HP:0010353 IAO:0000115 Fusion of the interphalangeal joints of the 2nd toe Fusion of the interphalangeal joints of the 2nd toe NOT_TRANSLATED -en nl HP:0010354 rdfs:label Triangular shaped phalanges of the 2nd toe Driehoekige falangen van de 2e teen CANDIDATE -en nl HP:0010355 rdfs:label Duplication of the phalanges of the 2nd toe Duplicatie van de falangen van de 2e teen CANDIDATE -en nl HP:0010355 IAO:0000115 Partial or complete duplication of a phalanx of second toe Partial or complete duplication of a phalanx of second toe NOT_TRANSLATED -en nl HP:0010356 rdfs:label Abnormality of the distal phalanx of the 2nd toe Afwijking van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010357 rdfs:label Abnormality of the middle phalanx of the 2nd toe Afwijking van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010358 rdfs:label Abnormal morphology of the proximal phalanx of the 2nd toe Afwijking van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010359 rdfs:label Aplasia/Hypoplasia of the phalanges of the 3rd toe Aplasie/Hypoplasie van de falangen van de 3e teen CANDIDATE -en nl HP:0010360 rdfs:label Broad phalanges of the 3rd toe Brede falangen van de 3e teen CANDIDATE -en nl HP:0010361 rdfs:label Bullet-shaped 3rd toe phalanx Kogel-vormig falanx van de 3e teen CANDIDATE -en nl HP:0010361 IAO:0000115 An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010362 rdfs:label Curved 3rd toe phalanx Gebogen falanx van de 3e teen CANDIDATE -en nl HP:0010362 IAO:0000115 A deviation from the normal straight form of one or more phalanges of the third toe A deviation from the normal straight form of one or more phalanges of the third toe NOT_TRANSLATED -en nl HP:0010363 rdfs:label Osteolytic defects of the phalanges of the 3rd toe Osteolytische defecten van de falangen van de 3e teen CANDIDATE -en nl HP:0010364 rdfs:label Patchy sclerosis of 3rd toe phalanx Fragmentarische sclerose van falanx van de 3e teen CANDIDATE -en nl HP:0010364 IAO:0000115 Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010365 rdfs:label Symphalangism affecting the phalanges of the 3rd toe Symfalangisme van de falangen van de 3e teen CANDIDATE -en nl HP:0010366 rdfs:label Triangular shaped phalanges of the 3rd toe Driehoekige falangen van de 3e teen CANDIDATE -en nl HP:0010367 rdfs:label Duplication of phalanx of the 3rd toe Duplicatie van falanx van de 3e teen CANDIDATE -en nl HP:0010367 IAO:0000115 Partial or complete duplication of phalanx of third toe Partial or complete duplication of phalanx of third toe NOT_TRANSLATED -en nl HP:0010368 rdfs:label Abnormality of the distal phalanx of the 3rd toe Afwijking van de distale falanx van de 3e teen CANDIDATE -en nl HP:0010369 rdfs:label Abnormality of the middle phalanx of the 3rd toe Afwijking van de middelste falanx van de 3e teen CANDIDATE -en nl HP:0010370 rdfs:label Abnormal morphology of the proximal phalanx of the 3rd toe Afwijking van de proximale falanx van de 3e teen CANDIDATE -en nl HP:0010370 IAO:0000115 An anomaly of the proximal phalanx of third toe An anomaly of the proximal phalanx of third toe NOT_TRANSLATED -en nl HP:0010371 rdfs:label Aplasia/Hypoplasia of the phalanges of the 4th toe Aplasie/Hypoplasie van de falangen van de 4e teen CANDIDATE -en nl HP:0010372 rdfs:label Broad phalanges of the 4th toe Brede falangen van de 4e teen CANDIDATE -en nl HP:0010373 rdfs:label Bullet-shaped 4th toe phalanx Kogel-vormig falanx van de 4e teen CANDIDATE -en nl HP:0010373 IAO:0000115 An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010374 rdfs:label Curved 4th toe phalanx Gebogen falanx van de 4e teen CANDIDATE -en nl HP:0010374 IAO:0000115 A deviation from the normal straight form of one or more phalanges of the fourth toe A deviation from the normal straight form of one or more phalanges of the fourth toe NOT_TRANSLATED -en nl HP:0010375 rdfs:label Osteolytic defects of the phalanges of the 4th toe Osteolytische defecten van de falangen van de 4e teen CANDIDATE -en nl HP:0010376 rdfs:label Patchy sclerosis of 4th toe phalanx Fragmentarische sclerose van falanx van de 4e teen CANDIDATE -en nl HP:0010376 IAO:0000115 Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010377 rdfs:label Symphalangism affecting the phalanges of the 4th toe Symfalangisme van de falangen van de 4e teen CANDIDATE -en nl HP:0010378 rdfs:label Triangular shaped phalanges of the 4th toe Driehoekige falangen van de 4e teen CANDIDATE -en nl HP:0010379 rdfs:label Duplication of phalanx of the 4th toe Duplicatie van falanx van de 4e teen CANDIDATE -en nl HP:0010379 IAO:0000115 Partial or complete duplication of phalanx of fourth toe Partial or complete duplication of phalanx of fourth toe NOT_TRANSLATED -en nl HP:0010380 rdfs:label Abnormality of the distal phalanx of the 4th toe Afwijking van de distale falanx van de 4e teen CANDIDATE -en nl HP:0010381 rdfs:label Abnormality of the middle phalanx of the 4th toe Afwijking van de middelste falanx van de 4e teen CANDIDATE -en nl HP:0010382 rdfs:label Abnormal morphology of the proximal phalanx of the 4th toe Afwijking van de proximale falanx van de 4e teen CANDIDATE -en nl HP:0010383 rdfs:label Aplasia/Hypoplasia of the phalanges of the 5th toe Aplasie/Hypoplasie van de falangen van de 5e teen CANDIDATE -en nl HP:0010384 rdfs:label Broad phalanges of the 5th toe Brede falangen van de 5e teen CANDIDATE -en nl HP:0010385 rdfs:label Bullet-shaped 5th toe phalanx Kogel-vormig falanx van de 5e teen CANDIDATE -en nl HP:0010385 IAO:0000115 An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010386 rdfs:label Curved 5th toe phalanx Gebogen falanx van de 5e teen CANDIDATE -en nl HP:0010386 IAO:0000115 A deviation from the normal straight form of one or more phalanges of the fifth toe A deviation from the normal straight form of one or more phalanges of the fifth toe NOT_TRANSLATED -en nl HP:0010387 rdfs:label Osteolytic defects of the phalanges of the 5th toe Osteolytische defecten van de falangen van de 5e teen CANDIDATE -en nl HP:0010388 rdfs:label Patchy sclerosis of 5th toe phalanx Fragmentarische sclerose van falanx van de 5e teen CANDIDATE -en nl HP:0010388 IAO:0000115 Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010389 rdfs:label Symphalangism affecting the phalanges of the 5th toe Symfalangisme van de falangen van de 5e teen CANDIDATE -en nl HP:0010390 rdfs:label Triangular shaped phalanges of the 5th toe Driehoekige falangen van de 5e teen CANDIDATE -en nl HP:0010391 rdfs:label Duplication of the phalanges of the 5th toe Duplicatie van de falangen van de 5e teen CANDIDATE -en nl HP:0010391 IAO:0000115 Partial or complete duplication of one or more phalanx of little toe Partial or complete duplication of one or more phalanx of little toe NOT_TRANSLATED -en nl HP:0010392 rdfs:label Abnormality of the distal phalanx of the 5th toe Afwijking van de distale falanx van de 5e teen CANDIDATE -en nl HP:0010393 rdfs:label Abnormality of the middle phalanx of the 5th toe Afwijking van de middelste falanx van de 5e teen CANDIDATE -en nl HP:0010394 rdfs:label Abnormal morphology of the proximal phalanx of the 5th toe Afwijking van de proximale falanx van de 5e teen CANDIDATE -en nl HP:0010395 rdfs:label Aplasia/hypoplasia of the proximal phalanx of the 2nd toe Aplasie/hypoplasie van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010395 IAO:0000115 Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe NOT_TRANSLATED -en nl HP:0010396 rdfs:label Broad proximal phalanx of the 2nd toe Breed proximale falanx van de 2e teen CANDIDATE -en nl HP:0010397 rdfs:label Bullet-shaped proximal phalanx of the 2nd toe Kogel-vormige proximale falanx van de 2e teen CANDIDATE -en nl HP:0010397 IAO:0000115 An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010398 rdfs:label Curved proximal phalanx of the 2nd toe Breed proximale falanx van de 2e teen CANDIDATE -en nl HP:0010398 IAO:0000115 A deviation from the normal straight form of the proximal phalanx of the 2nd toe A deviation from the normal straight form of the proximal phalanx of the 2nd toe NOT_TRANSLATED -en nl HP:0010399 rdfs:label Osteolytic defects of the proximal phalanx of the 2nd toe Osteolytische defecten van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010400 rdfs:label Patchy sclerosis of the proximal phalanx of the 2nd toe Fragmentarische sclerose van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010401 rdfs:label Symphalangism affecting the proximal phalanx of the 2nd toe Symfalangisme van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010402 rdfs:label Triangular shaped proximal phalanx of the 2nd toe Driehoekige proximale falanx van de 2e vinger CANDIDATE -en nl HP:0010403 rdfs:label Duplication of the proximal phalanx of the 2nd toe Duplicatie van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010403 IAO:0000115 Partial or complete duplication of proximal phalanx of second toe Partial or complete duplication of proximal phalanx of second toe NOT_TRANSLATED -en nl HP:0010404 rdfs:label Aplasia/Hypoplasia of the middle phalanx of the 2nd toe Aplasie/hypoplasie van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010405 rdfs:label Broad middle phalanx of the 2nd toe Brede middelste falanx van de 2e teen CANDIDATE -en nl HP:0010406 rdfs:label Bullet-shaped middle phalanx of the 2nd toe Kogel-vormige middelste falanx van de 2e teen CANDIDATE -en nl HP:0010406 IAO:0000115 An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010407 rdfs:label Curved middle phalanx of the 2nd toe Gebogen middelste falanx van de 2e teen CANDIDATE -en nl HP:0010407 IAO:0000115 A deviation from the normal straight form of the middle phalanx of the 2nd toe A deviation from the normal straight form of the middle phalanx of the 2nd toe NOT_TRANSLATED -en nl HP:0010408 rdfs:label Osteolytic defects of the middle phalanx of the 2nd toe Osteolytisch defecten van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010409 rdfs:label Patchy sclerosis of the middle phalanx of the 2nd toe Fragmentarische sclerose van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010410 rdfs:label Symphalangism affecting the middle phalanx of the 2nd toe Symfalangisme van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010411 rdfs:label Triangular shaped middle phalanx of the 2nd toe Driehoekige middelste falanx van de 2e vinger CANDIDATE -en nl HP:0010412 rdfs:label Duplication of the middle phalanx of the 2nd toe Duplicatie van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010412 IAO:0000115 Partial or complete duplication of middle phalanx of second toe Partial or complete duplication of middle phalanx of second toe NOT_TRANSLATED -en nl HP:0010413 rdfs:label Aplasia/Hypoplasia of the distal phalanx of the 2nd toe Aplasie/hypoplasie van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010414 rdfs:label Broad distal phalanx of the 2nd toe Brede distale falanx van de 2e teen CANDIDATE -en nl HP:0010415 rdfs:label Bullet-shaped distal phalanx of the 2nd toe Kogel-vormige distale falanx van de 2e teen CANDIDATE -en nl HP:0010415 IAO:0000115 An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED -en nl HP:0010416 rdfs:label Curved distal phalanx of the 2nd toe Gebogen distale falanx van de 2e teen CANDIDATE -en nl HP:0010416 IAO:0000115 A deviation from the normal straight form of the distal phalanx of the 2nd toe A deviation from the normal straight form of the distal phalanx of the 2nd toe NOT_TRANSLATED -en nl HP:0010417 rdfs:label Osteolytic defects of the distal phalanx of the 2nd toe Osteolytisch defecten van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010418 rdfs:label Patchy sclerosis of the distal phalanx of the 2nd toe Fragmentarische sclerose van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010419 rdfs:label Symphalangism affecting the distal phalanx of the 2nd toe Symfalangisme van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010420 rdfs:label Triangular shaped distal phalanx of the 2nd toe Driehoekige distale falanx van de 2e teen CANDIDATE -en nl HP:0010421 rdfs:label Duplication of the distal phalanx of the 2nd toe Duplicatie van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010421 IAO:0000115 Partial or complete duplication of the distal phalanx of second toe Partial or complete duplication of the distal phalanx of second toe NOT_TRANSLATED -en nl HP:0010422 rdfs:label Complete duplication of the proximal phalanx of the 2nd toe Complete duplicatie van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010422 IAO:0000115 Complete duplication of proximal phalanx of second toe Complete duplication of proximal phalanx of second toe NOT_TRANSLATED -en nl HP:0010423 rdfs:label Partial duplication of the proximal phalanx of the 2nd toe Partiële duplicatie van het proximalee falanx van de 2e teen CANDIDATE -en nl HP:0010423 IAO:0000115 Partial duplication of proximal phalanx of second toe Partial duplication of proximal phalanx of second toe NOT_TRANSLATED -en nl HP:0010424 rdfs:label Complete duplication of the distal phalanx of the 2nd toe Complete duplicatie van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010424 IAO:0000115 Complete duplication of the distal phalanx of second toe Complete duplication of the distal phalanx of second toe NOT_TRANSLATED -en nl HP:0010425 rdfs:label Partial duplication of the distal phalanx of the 2nd toe Partiële duplicatie van de distale falanx van de 2e teen CANDIDATE -en nl HP:0010425 IAO:0000115 Partial duplication of the distal phalanx of second toe Partial duplication of the distal phalanx of second toe NOT_TRANSLATED -en nl HP:0010426 rdfs:label Complete duplication of the middle phalanx of the 2nd toe Complete duplicatie van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010426 IAO:0000115 Complete duplication of middle phalanx of second toe Complete duplication of middle phalanx of second toe NOT_TRANSLATED -en nl HP:0010427 rdfs:label Partial duplication of the middle phalanx of the 2nd toe Partiële duplicatie van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010427 IAO:0000115 Partial duplication of middle phalanx of second toe Partial duplication of middle phalanx of second toe NOT_TRANSLATED -en nl HP:0010428 rdfs:label Partial duplication of phalanx of the 2nd toe Partiële duplicatie van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010428 IAO:0000115 Partial duplication of a phalanx of second toe Partial duplication of a phalanx of second toe NOT_TRANSLATED -en nl HP:0010429 rdfs:label Complete duplication of the phalanges of the 2nd toe Complete duplicatie van de falangen van de 2e vinger CANDIDATE -en nl HP:0010429 IAO:0000115 Complete duplication of a phalanx of second toe Complete duplication of a phalanx of second toe NOT_TRANSLATED -en nl HP:0010430 rdfs:label Aplasia of the phalanges of the 2nd toe Aplasie van de falangen van de 2e teen CANDIDATE -en nl HP:0010431 rdfs:label Short phalanx of the 2nd toe Korte falanx van de 2e teen CANDIDATE -en nl HP:0010431 IAO:0000115 Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia NOT_TRANSLATED -en nl HP:0010432 rdfs:label Absent distal phalanx of the 2nd toe Afwezige distale falanx van de 2e teen CANDIDATE -en nl HP:0010432 IAO:0000115 Absence of distal phalanx of the second toe as a result of developmental aplasia Absence of distal phalanx of the second toe as a result of developmental aplasia NOT_TRANSLATED -en nl HP:0010433 rdfs:label Short distal phalanx of the 2nd toe Korte distale falanx van de 2e teen CANDIDATE -en nl HP:0010433 IAO:0000115 Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia NOT_TRANSLATED -en nl HP:0010434 rdfs:label Aplasia of the middle phalanx of the 2nd toe Aplasie van de middelste falanx van de 2e teen CANDIDATE -en nl HP:0010435 rdfs:label Short middle phalanx of the 2nd toe Korte middelste falanx van de 2e teen CANDIDATE -en nl HP:0010435 IAO:0000115 Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia NOT_TRANSLATED -en nl HP:0010436 rdfs:label Aplasia of the proximal phalanx of the 2nd toe Aplasie van de proximale falanx van de 2e teen CANDIDATE -en nl HP:0010437 rdfs:label Short proximal phalanx of the 2nd toe Korte proximale falanx van de 2e teen CANDIDATE -en nl HP:0010437 IAO:0000115 Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia NOT_TRANSLATED -en nl HP:0010438 rdfs:label Abnormal ventricular septum morphology Afwijkende ventriculair septum morfologie CANDIDATE -en nl HP:0010438 IAO:0000115 A structural abnormality of the interventricular septum A structural abnormality of the interventricular septum NOT_TRANSLATED -en nl HP:0010440 rdfs:label Ectopic accesory toe-like appendage Ectopisch extra teen-achtig aanhangsel CANDIDATE -en nl HP:0010440 IAO:0000115 In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) NOT_TRANSLATED -en nl HP:0010441 rdfs:label Ectopic accessory finger-like appendage Ectopisch extra vinger-achtig aanhangsel CANDIDATE -en nl HP:0010441 IAO:0000115 In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) NOT_TRANSLATED -en nl HP:0010442 rdfs:label Polydactyly Polydactylie CANDIDATE -en nl HP:0010442 IAO:0000115 A congenital anomaly characterized by the presence of supernumerary fingers or toes A congenital anomaly characterized by the presence of supernumerary fingers or toes NOT_TRANSLATED -en nl HP:0010443 rdfs:label Bifid femur Bifide femur CANDIDATE -en nl HP:0010443 IAO:0000115 A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side NOT_TRANSLATED -en nl HP:0010444 rdfs:label Pulmonary insufficiency Pulmonaalklepinsufficiëntie CANDIDATE -en nl HP:0010444 IAO:0000115 The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole NOT_TRANSLATED -en nl HP:0010445 rdfs:label Primum atrial septal defect Primum atriumseptumdefect CANDIDATE -en nl HP:0010445 IAO:0000115 An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum NOT_TRANSLATED -en nl HP:0010446 rdfs:label Tricuspid stenosis Tricuspidalisstenose CANDIDATE -en nl HP:0010446 IAO:0000115 A narrowing of the orifice of the tricuspid valve of the heart A narrowing of the orifice of the tricuspid valve of the heart NOT_TRANSLATED -en nl HP:0010447 rdfs:label Anal fistula Anale fistel CANDIDATE -en nl HP:0010447 IAO:0000115 An abnormal connection between the epithelialised surface of the anal canal and the perianal skin An abnormal connection between the epithelialised surface of the anal canal and the perianal skin NOT_TRANSLATED -en nl HP:0010448 rdfs:label Colonic atresia Colon atresie CANDIDATE -en nl HP:0010448 IAO:0000115 A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon NOT_TRANSLATED -en nl HP:0010450 rdfs:label Esophageal stenosis Oesofagusstenose CANDIDATE -en nl HP:0010450 IAO:0000115 An abnormal narrowing of the lumen of the esophagus An abnormal narrowing of the lumen of the esophagus NOT_TRANSLATED -en nl HP:0010451 rdfs:label Aplasia/Hypoplasia of the spleen Aplasia/Hypoplasie van de milt CANDIDATE -en nl HP:0010451 IAO:0000115 Absence or underdevelopment of the spleen Absence or underdevelopment of the spleen NOT_TRANSLATED -en nl HP:0010452 rdfs:label Ectopia of the spleen Ectopische milt CANDIDATE -en nl HP:0010452 IAO:0000115 An abnormal (non-anatomic) location of the spleen An abnormal (non-anatomic) location of the spleen NOT_TRANSLATED -en nl HP:0010453 rdfs:label Pelvic bone asymmetry Bekkenbeen asymmetrie CANDIDATE -en nl HP:0010453 IAO:0000115 Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology NOT_TRANSLATED -en nl HP:0010454 rdfs:label Acetabular spurs Acetabulaire uitlopers CANDIDATE -en nl HP:0010454 IAO:0000115 The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum NOT_TRANSLATED -en nl HP:0010455 rdfs:label Steep acetabular roof Steil dak van acetabulum CANDIDATE -en nl HP:0010455 IAO:0000115 An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance NOT_TRANSLATED -en nl HP:0010456 rdfs:label Abnormal greater sciatic notch morphology Afwijking van de incisura ischiadica major CANDIDATE -en nl HP:0010456 IAO:0000115 An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium NOT_TRANSLATED -en nl HP:0010458 rdfs:label Female pseudohermaphroditism Vrouwelijk pseudohermafroditisme CANDIDATE -en nl HP:0010458 IAO:0000115 Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized NOT_TRANSLATED -en nl HP:0010459 rdfs:label True hermaphroditism Echt hermafroditisme CANDIDATE -en nl HP:0010459 IAO:0000115 The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism NOT_TRANSLATED -en nl HP:0010460 rdfs:label Abnormality of the female genitalia Afwijking van de vrouwelijke geslachtsorganen CANDIDATE -en nl HP:0010460 IAO:0000115 Abnormality of the female genital system Abnormality of the female genital system NOT_TRANSLATED -en nl HP:0010461 rdfs:label Abnormality of the male genitalia Afwijking van de mannelijke genitaliën CANDIDATE -en nl HP:0010461 IAO:0000115 Abnormality of the male genital system Abnormality of the male genital system NOT_TRANSLATED -en nl HP:0010462 rdfs:label Aplasia/Hypoplasia of the ovary Aplasia/Hypoplasie van het ovarium CANDIDATE -en nl HP:0010462 IAO:0000115 Aplasia or developmental hypoplasia of the ovary Aplasia or developmental hypoplasia of the ovary NOT_TRANSLATED -en nl HP:0010463 rdfs:label Aplasia of the ovary Aplasie van het ovarium CANDIDATE -en nl HP:0010463 IAO:0000115 Aplasia, that is failure to develop, of the ovary Aplasia, that is failure to develop, of the ovary NOT_TRANSLATED -en nl HP:0010464 rdfs:label Streak ovary Streak ovary NOT_TRANSLATED -en nl HP:0010464 IAO:0000115 A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells NOT_TRANSLATED -en nl HP:0010465 rdfs:label Precocious puberty in females Pubertas praecox bij vrouwen CANDIDATE -en nl HP:0010465 IAO:0000115 The onset of puberty before the age of 8 years in girls The onset of puberty before the age of 8 years in girls NOT_TRANSLATED -en nl HP:0010468 rdfs:label Aplasia/Hypoplasia of the testes Aplasia/Hypoplasie van de testes CANDIDATE -en nl HP:0010468 IAO:0000115 Absence or underdevelopment of the testes Absence or underdevelopment of the testes NOT_TRANSLATED -en nl HP:0010469 rdfs:label Absent testis Afwezige testis CANDIDATE -en nl HP:0010469 IAO:0000115 Testis not palpable in the scrotum or inguinal canal Testis not palpable in the scrotum or inguinal canal NOT_TRANSLATED -en nl HP:0010470 rdfs:label Supernumerary testes Extra testes CANDIDATE -en nl HP:0010470 IAO:0000115 The presence of more than two testes The presence of more than two testes NOT_TRANSLATED -en nl HP:0010471 rdfs:label Oligosacchariduria Oligosaccharidurie CANDIDATE -en nl HP:0010471 IAO:0000115 Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins NOT_TRANSLATED -en nl HP:0010472 rdfs:label Abnormal circulating porphyrin concentration Afwijking in de heem biosynthetische pathway CANDIDATE -en nl HP:0010472 IAO:0000115 An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes NOT_TRANSLATED -en nl HP:0010473 rdfs:label Porphyrinuria Porfyrinurie CANDIDATE -en nl HP:0010473 IAO:0000115 Abnormally increased excretion of porphyrins in the urine Abnormally increased excretion of porphyrins in the urine NOT_TRANSLATED -en nl HP:0010474 rdfs:label Bladder stones Blaas stenen CANDIDATE -en nl HP:0010474 IAO:0000115 Buildups of minerals that form in the urinary bladder Buildups of minerals that form in the urinary bladder NOT_TRANSLATED -en nl HP:0010475 rdfs:label Cloacal exstrophy Cloaca extrofie CANDIDATE -en nl HP:0010475 IAO:0000115 Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus NOT_TRANSLATED -en nl HP:0010476 rdfs:label Aplasia/Hypoplasia of the bladder Aplasia/Hypoplasie van de blaas CANDIDATE -en nl HP:0010476 IAO:0000115 Absence or underdevelopment of the urinary bladder Absence or underdevelopment of the urinary bladder NOT_TRANSLATED -en nl HP:0010477 rdfs:label Aplasia of the bladder Aplasie van de blaas CANDIDATE -en nl HP:0010477 IAO:0000115 Aplasia (absence) of the urinary bladder Aplasia (absence) of the urinary bladder NOT_TRANSLATED -en nl HP:0010478 rdfs:label Abnormality of the urachus Afwijking van de urachus CANDIDATE -en nl HP:0010478 IAO:0000115 Abnormality of the urachus Abnormality of the urachus NOT_TRANSLATED -en nl HP:0010479 rdfs:label Patent urachus Open urachus CANDIDATE -en nl HP:0010479 IAO:0000115 Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus NOT_TRANSLATED -en nl HP:0010480 rdfs:label Urethral fistula Urethrale fistel CANDIDATE -en nl HP:0010480 IAO:0000115 The presence of an abnormal connection between the urethra and another organ or the skin The presence of an abnormal connection between the urethra and another organ or the skin NOT_TRANSLATED -en nl HP:0010481 rdfs:label Urethral valve Urethrale klep CANDIDATE -en nl HP:0010481 IAO:0000115 The presence of an abnormal membrane obstructing the urethra The presence of an abnormal membrane obstructing the urethra NOT_TRANSLATED -en nl HP:0010482 rdfs:label Acromelia of the upper limbs Acromelie van de bovenste ledematen CANDIDATE -en nl HP:0010482 IAO:0000115 Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments NOT_TRANSLATED -en nl HP:0010483 rdfs:label Amniotic constriction rings of arms Amniotic constriction rings of arms NOT_TRANSLATED -en nl HP:0010483 IAO:0000115 Amniotic constriction rings affecting the arms Amniotic constriction rings affecting the arms NOT_TRANSLATED -en nl HP:0010484 rdfs:label Hypertrophy of the upper limb Hypertrofie van de bovenste ledemaat CANDIDATE -en nl HP:0010484 IAO:0000115 Abnormal increase in size of the upper limbs (due to an increase of the size of cells) Abnormal increase in size of the upper limbs (due to an increase of the size of cells) NOT_TRANSLATED -en nl HP:0010485 rdfs:label Hyperextensibility at elbow Hyperextensibiliteit van elleboog CANDIDATE -en nl HP:0010485 IAO:0000115 The ability of the elbow joint to move beyond its normal range of motion The ability of the elbow joint to move beyond its normal range of motion NOT_TRANSLATED -en nl HP:0010486 rdfs:label Abnormality of the hypothenar eminence Afwijking van de pinkmuis CANDIDATE -en nl HP:0010486 IAO:0000115 An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger) An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger) NOT_TRANSLATED -en nl HP:0010487 rdfs:label Small hypothenar eminence Kleine pinkmuis CANDIDATE -en nl HP:0010487 IAO:0000115 Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence NOT_TRANSLATED -en nl HP:0010488 rdfs:label Aplasia/Hypoplasia of the palmar creases Aplasia/Hypoplasie van de handlijnen CANDIDATE -en nl HP:0010488 IAO:0000115 Absence or underdevelopment of the palmar creases Absence or underdevelopment of the palmar creases NOT_TRANSLATED -en nl HP:0010489 rdfs:label Absent palmar crease Afwezige handlijn CANDIDATE -en nl HP:0010489 IAO:0000115 The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease) The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease) NOT_TRANSLATED -en nl HP:0010490 rdfs:label Abnormality of the palmar creases Afwijking van de handlijnen CANDIDATE -en nl HP:0010490 IAO:0000115 An abnormality of the creases of the skin of palm of hand An abnormality of the creases of the skin of palm of hand NOT_TRANSLATED -en nl HP:0010491 rdfs:label Digital constriction ring Digital constriction ring NOT_TRANSLATED -en nl HP:0010491 IAO:0000115 A narrow segment of significantly reduced circumference of a digit A narrow segment of significantly reduced circumference of a digit NOT_TRANSLATED -en nl HP:0010492 rdfs:label Osseous finger syndactyly Ossale vinger syndactylie CANDIDATE -en nl HP:0010492 IAO:0000115 "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED -en nl HP:0010493 rdfs:label Long metacarpals Lange metacarpalen CANDIDATE -en nl HP:0010493 IAO:0000115 An abnormally increased length of the metacarpal bones An abnormally increased length of the metacarpal bones NOT_TRANSLATED -en nl HP:0010494 rdfs:label Acromelia of the lower limbs Acromelie van de onderste ledematen CANDIDATE -en nl HP:0010494 IAO:0000115 Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments NOT_TRANSLATED -en nl HP:0010495 rdfs:label Amniotic constriction rings of legs Amniotic constriction rings of legs NOT_TRANSLATED -en nl HP:0010495 IAO:0000115 Amniotic constriction rings affecting the legs Amniotic constriction rings affecting the legs NOT_TRANSLATED -en nl HP:0010496 rdfs:label Hypertrophy of the lower limb Hypertrofie van onderste ledemaat CANDIDATE -en nl HP:0010496 IAO:0000115 Abnormal increase in size of the lower limbs (due to an increase of the size of cells) Abnormal increase in size of the lower limbs (due to an increase of the size of cells) NOT_TRANSLATED -en nl HP:0010497 rdfs:label Sirenomelia Sirenomelie CANDIDATE -en nl HP:0010497 IAO:0000115 A developmental defect in which the legs are fused together A developmental defect in which the legs are fused together NOT_TRANSLATED -en nl HP:0010498 rdfs:label Bipartite patella Patella bipartita CANDIDATE -en nl HP:0010498 IAO:0000115 A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood NOT_TRANSLATED -en nl HP:0010499 rdfs:label Patellar subluxation Patellaire subluxatie CANDIDATE -en nl HP:0010499 IAO:0000115 The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella NOT_TRANSLATED -en nl HP:0010500 rdfs:label Hyperextensibility of the knee Hyperextensibiliteit van de knie CANDIDATE -en nl HP:0010500 IAO:0000115 The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh) The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh) NOT_TRANSLATED -en nl HP:0010501 rdfs:label Limitation of knee mobility Beperking van de mobiliteit van de knie CANDIDATE -en nl HP:0010501 IAO:0000115 An abnormal limitation of knee joint mobility An abnormal limitation of knee joint mobility NOT_TRANSLATED -en nl HP:0010502 rdfs:label Fibular bowing Bowing van fibula CANDIDATE -en nl HP:0010502 IAO:0000115 A bending or abnormal curvature of the fibula A bending or abnormal curvature of the fibula NOT_TRANSLATED -en nl HP:0010503 rdfs:label Fibular duplication Fibulaire duplicatie CANDIDATE -en nl HP:0010503 IAO:0000115 Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition NOT_TRANSLATED -en nl HP:0010504 rdfs:label Increased length of the tibia Toegenomen lengte van de tibia CANDIDATE -en nl HP:0010504 IAO:0000115 An abnormal increase in the length of the tibia An abnormal increase in the length of the tibia NOT_TRANSLATED -en nl HP:0010505 rdfs:label Limitation of movement at ankles Beperking van beweging van de enkels CANDIDATE -en nl HP:0010505 IAO:0000115 An abnormal limitation of the mobility of the ankle joint An abnormal limitation of the mobility of the ankle joint NOT_TRANSLATED -en nl HP:0010506 rdfs:label Abnormal plantar dermatoglyphics Afwijkende palmaire dermatoglyfen CANDIDATE -en nl HP:0010506 IAO:0000115 An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot NOT_TRANSLATED -en nl HP:0010507 rdfs:label Foot asymmetry Voet asymmetrie CANDIDATE -en nl HP:0010507 IAO:0000115 A difference in size or shape between the left and right foot A difference in size or shape between the left and right foot NOT_TRANSLATED -en nl HP:0010508 rdfs:label Metatarsus valgus Metatarsus valgus CANDIDATE -en nl HP:0010508 IAO:0000115 A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight NOT_TRANSLATED -en nl HP:0010509 rdfs:label Aplasia of the tarsal bones Aplasie van de tarsale botten CANDIDATE -en nl HP:0010509 IAO:0000115 Absence of the tarsal bones Absence of the tarsal bones NOT_TRANSLATED -en nl HP:0010510 rdfs:label Hypermobility of toe joints Hypermobiliteit van teengewrichten CANDIDATE -en nl HP:0010510 IAO:0000115 An ability of the toe joints to move beyond their normal range of motion An ability of the toe joints to move beyond their normal range of motion NOT_TRANSLATED -en nl HP:0010511 rdfs:label Long toe Lange teen CANDIDATE -en nl HP:0010511 IAO:0000115 Toes that appear disproportionately long compared to the foot Toes that appear disproportionately long compared to the foot NOT_TRANSLATED -en nl HP:0010512 rdfs:label Adrenal calcification Bijnier calcificatie CANDIDATE -en nl HP:0010512 IAO:0000115 Calcification within the adrenal glands Calcification within the adrenal glands NOT_TRANSLATED -en nl HP:0010513 rdfs:label Pituitary calcification Hypofyse verkalking CANDIDATE -en nl HP:0010513 IAO:0000115 Deposition of calcium salts in the pituitary gland Deposition of calcium salts in the pituitary gland NOT_TRANSLATED -en nl HP:0010514 rdfs:label Hyperpituitarism Hyperpituitarisme CANDIDATE -en nl HP:0010514 IAO:0000115 Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma NOT_TRANSLATED -en nl HP:0010515 rdfs:label Aplasia/Hypoplasia of the thymus Aplasia/hypoplasie van de thymus CANDIDATE -en nl HP:0010515 IAO:0000115 Absence or underdevelopment of the thymus Absence or underdevelopment of the thymus NOT_TRANSLATED -en nl HP:0010516 rdfs:label Thymus hyperplasia Thymus hyperplasie CANDIDATE -en nl HP:0010516 IAO:0000115 Enlargement of the thymus Enlargement of the thymus NOT_TRANSLATED -en nl HP:0010517 rdfs:label Ectopic thymus tissue Ectopisch thymus weefsel CANDIDATE -en nl HP:0010517 IAO:0000115 The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend NOT_TRANSLATED -en nl HP:0010518 rdfs:label Thyroglossal cyst Thyroglossale cyste CANDIDATE -en nl HP:0010518 IAO:0000115 An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct NOT_TRANSLATED -en nl HP:0010519 rdfs:label Increased fetal movement Toegenomen foetale bewegingen CANDIDATE -en nl HP:0010519 IAO:0000115 An abnormal increase in quantity or strength of fetal movements An abnormal increase in quantity or strength of fetal movements NOT_TRANSLATED -en nl HP:0010521 rdfs:label Gait apraxia Gait apraxia NOT_TRANSLATED -en nl HP:0010521 IAO:0000115 Gait apraxia affecting the ability to make walking movements with the legs Gait apraxia affecting the ability to make walking movements with the legs NOT_TRANSLATED -en nl HP:0010522 rdfs:label Dyslexia Dyslexie CANDIDATE -en nl HP:0010522 IAO:0000115 A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent) A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent) NOT_TRANSLATED -en nl HP:0010523 rdfs:label Alexia Alexie CANDIDATE -en nl HP:0010523 IAO:0000115 An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read NOT_TRANSLATED -en nl HP:0010524 rdfs:label Agnosia Agnosie CANDIDATE -en nl HP:0010524 IAO:0000115 Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions NOT_TRANSLATED -en nl HP:0010525 rdfs:label Finger agnosia Vinger-agnosie CANDIDATE -en nl HP:0010525 IAO:0000115 An inability or difficulty differentiating among the fingers of either hand as well as the hands of others An inability or difficulty differentiating among the fingers of either hand as well as the hands of others NOT_TRANSLATED -en nl HP:0010526 rdfs:label Dysgraphia Dysgrafie CANDIDATE -en nl HP:0010526 IAO:0000115 A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment NOT_TRANSLATED -en nl HP:0010527 rdfs:label Astereognosia Astereognosie CANDIDATE -en nl HP:0010527 IAO:0000115 Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit NOT_TRANSLATED -en nl HP:0010528 rdfs:label Prosopagnosia Prosopagnosie CANDIDATE -en nl HP:0010528 IAO:0000115 Inability to recognize faces of familiar persons Inability to recognize faces of familiar persons NOT_TRANSLATED -en nl HP:0010529 rdfs:label Echolalia Echolalie CANDIDATE -en nl HP:0010529 IAO:0000115 The tendency to repeat vocalizations made by another person The tendency to repeat vocalizations made by another person NOT_TRANSLATED -en nl HP:0010530 rdfs:label Palatal tremor Myoclonus van gehemelte CANDIDATE -en nl HP:0010530 IAO:0000115 Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral NOT_TRANSLATED -en nl HP:0010531 rdfs:label Spinal myoclonus Spinale myoclonus CANDIDATE -en nl HP:0010531 IAO:0000115 Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia NOT_TRANSLATED -en nl HP:0010532 rdfs:label Paroxysmal vertigo Paroxysmale vertigo CANDIDATE -en nl HP:0010532 IAO:0000115 Paroxysmal episodes of vertigo Paroxysmal episodes of vertigo NOT_TRANSLATED -en nl HP:0010533 rdfs:label Spasmus nutans Spasmus nutans CANDIDATE -en nl HP:0010533 IAO:0000115 The combination of pendular nystagmus, head nodding, and torticollis The combination of pendular nystagmus, head nodding, and torticollis NOT_TRANSLATED -en nl HP:0010534 rdfs:label Transient global amnesia Transient global amnesia CANDIDATE -en nl HP:0010534 IAO:0000115 A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information NOT_TRANSLATED -en nl HP:0010535 rdfs:label Sleep apnea Slaap-apneu CANDIDATE -en nl HP:0010535 IAO:0000115 An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep NOT_TRANSLATED -en nl HP:0010536 rdfs:label Central sleep apnea Centrale slaap-apneu CANDIDATE -en nl HP:0010536 IAO:0000115 Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles NOT_TRANSLATED -en nl HP:0010537 rdfs:label Wide cranial sutures Brede craniale suturen CANDIDATE -en nl HP:0010537 IAO:0000115 An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure) An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure) NOT_TRANSLATED -en nl HP:0010538 rdfs:label Small sella turcica Kleine sella turcica CANDIDATE -en nl HP:0010538 IAO:0000115 An abnormally small sella turcica An abnormally small sella turcica NOT_TRANSLATED -en nl HP:0010539 rdfs:label Thin calvarium Dun schedeldak CANDIDATE -en nl HP:0010539 IAO:0000115 The presence of an abnormally thin calvarium The presence of an abnormally thin calvarium NOT_TRANSLATED -en nl HP:0010540 rdfs:label Advanced pneumatization of cranial sinuses Geavanceerde pneumatisatie van craniale sinussen CANDIDATE -en nl HP:0010540 IAO:0000115 A degree of pneumatization that is increased compared to age-related norms A degree of pneumatization that is increased compared to age-related norms NOT_TRANSLATED -en nl HP:0010541 rdfs:label Cutis gyrata of scalp Cutis gyrata van de hoofdhuid CANDIDATE -en nl HP:0010541 IAO:0000115 The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction NOT_TRANSLATED -en nl HP:0010542 rdfs:label Vestibular nystagmus Vestibulaire nystagmus CANDIDATE -en nl HP:0010542 IAO:0000115 Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components NOT_TRANSLATED -en nl HP:0010543 rdfs:label Opsoclonus Opsoclonus CANDIDATE -en nl HP:0010543 IAO:0000115 Bursts of large-amplitude multidirectional saccades without intersaccadic interval Bursts of large-amplitude multidirectional saccades without intersaccadic interval NOT_TRANSLATED -en nl HP:0010544 rdfs:label Vertical nystagmus Verticale nystagmus CANDIDATE -en nl HP:0010544 IAO:0000115 Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus NOT_TRANSLATED -en nl HP:0010545 rdfs:label Downbeat nystagmus Downbeat nystagmus NOT_TRANSLATED -en nl HP:0010545 IAO:0000115 Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone NOT_TRANSLATED -en nl HP:0010546 rdfs:label Muscle fibrillation Spier fibrillatie CANDIDATE -en nl HP:0010546 IAO:0000115 Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG NOT_TRANSLATED -en nl HP:0010547 rdfs:label Muscle flaccidity Spier slapheid CANDIDATE -en nl HP:0010547 IAO:0000115 A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation NOT_TRANSLATED -en nl HP:0010548 rdfs:label Percussion myotonia Percussie myotonie CANDIDATE -en nl HP:0010548 IAO:0000115 A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object) A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object) NOT_TRANSLATED -en nl HP:0010549 rdfs:label Weakness due to upper motor neuron dysfunction Zwakte ten gevolg van bovenste motor neuron dysfunctie CANDIDATE -en nl HP:0010549 IAO:0000115 Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons NOT_TRANSLATED -en nl HP:0010550 rdfs:label Paraplegia Paraplegie CANDIDATE -en nl HP:0010550 IAO:0000115 Severe or complete weakness of both lower extremities with sparing of the upper extremities Severe or complete weakness of both lower extremities with sparing of the upper extremities NOT_TRANSLATED -en nl HP:0010551 rdfs:label Paraplegia/paraparesis Paraplegie/paraparese CANDIDATE -en nl HP:0010551 IAO:0000115 Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength NOT_TRANSLATED -en nl HP:0010553 rdfs:label Oculogyric crisis Oculogyrische crisis CANDIDATE -en nl HP:0010553 IAO:0000115 An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications NOT_TRANSLATED -en nl HP:0010554 rdfs:label Cutaneous finger syndactyly Cutane vinger syndactylie CANDIDATE -en nl HP:0010554 IAO:0000115 A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers NOT_TRANSLATED -en nl HP:0010557 rdfs:label Overlapping fingers Overlappende vingers CANDIDATE -en nl HP:0010557 IAO:0000115 A finger resting on the dorsal surface of an adjacent digit when the hand is at rest A finger resting on the dorsal surface of an adjacent digit when the hand is at rest NOT_TRANSLATED -en nl HP:0010558 rdfs:label Abnormality of the clivus Afwijking van de clivus CANDIDATE -en nl HP:0010558 IAO:0000115 An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum NOT_TRANSLATED -en nl HP:0010559 rdfs:label Vertical clivus Verticale clivus CANDIDATE -en nl HP:0010559 IAO:0000115 An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum) An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum) NOT_TRANSLATED -en nl HP:0010560 rdfs:label Undulate clavicles Undulate clavicles NOT_TRANSLATED -en nl HP:0010560 IAO:0000115 An abnormally wavy surface or edge of the clavicles An abnormally wavy surface or edge of the clavicles NOT_TRANSLATED -en nl HP:0010561 rdfs:label Undulate ribs Undulate ribs NOT_TRANSLATED -en nl HP:0010561 IAO:0000115 An abnormally wavy surface or edge of the ribs An abnormally wavy surface or edge of the ribs NOT_TRANSLATED -en nl HP:0010562 rdfs:label Keloids Keloïden CANDIDATE -en nl HP:0010564 rdfs:label Bifid epiglottis Bifide epiglottis CANDIDATE -en nl HP:0010564 IAO:0000115 A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation NOT_TRANSLATED -en nl HP:0010565 rdfs:label Aplasia/Hypoplasia of the Epiglottis Aplasia/Hypoplasie van het epiglottis CANDIDATE -en nl HP:0010565 IAO:0000115 This term applies if the Epiglottis is absent or hypoplastic This term applies if the Epiglottis is absent or hypoplastic NOT_TRANSLATED -en nl HP:0010566 rdfs:label Hamartoma Hamartoom CANDIDATE -en nl HP:0010566 IAO:0000115 A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma NOT_TRANSLATED -en nl HP:0010567 rdfs:label Y-shaped metatarsals Y-vormige metatarsalen CANDIDATE -en nl HP:0010567 IAO:0000115 Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly NOT_TRANSLATED -en nl HP:0010568 rdfs:label Hamartoma of the eye Hamartoom van het oog CANDIDATE -en nl HP:0010568 IAO:0000115 A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye NOT_TRANSLATED -en nl HP:0010569 rdfs:label Elevated 7-dehydrocholesterol Verhoogd 7-dehydrocholesterol CANDIDATE -en nl HP:0010569 IAO:0000115 Elevated 7-dehydrocholesterol levels Elevated 7-dehydrocholesterol levels NOT_TRANSLATED -en nl HP:0010570 rdfs:label Low maternal circulating alpha-fetoprotein concentration Laag maternaal serum alfafoetoproteïne CANDIDATE -en nl HP:0010570 IAO:0000115 An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age NOT_TRANSLATED -en nl HP:0010571 rdfs:label Elevated circulating phytanic acid concentration Verhoogde niveaus van fytaanzuur CANDIDATE -en nl HP:0010571 IAO:0000115 An abnormal elevation of phytanic acid An abnormal elevation of phytanic acid NOT_TRANSLATED -en nl HP:0010574 rdfs:label Abnormality of the epiphysis of the femoral head Afwijking van de epifyse van de femurkop CANDIDATE -en nl HP:0010574 IAO:0000115 Any abnormality of the proximal epiphysis of the femur Any abnormality of the proximal epiphysis of the femur NOT_TRANSLATED -en nl HP:0010575 rdfs:label Dysplasia of the femoral head Dysplasie van de femurkop CANDIDATE -en nl HP:0010575 IAO:0000115 The presence of developmental dysplasia of the femoral head The presence of developmental dysplasia of the femoral head NOT_TRANSLATED -en nl HP:0010576 rdfs:label Intracranial cystic lesion Intracraniële cysteuze lesie CANDIDATE -en nl HP:0010576 IAO:0000115 A cystic lesion originating within the brain A cystic lesion originating within the brain NOT_TRANSLATED -en nl HP:0010577 rdfs:label Absent epiphyses Afwezige epifysen CANDIDATE -en nl HP:0010578 rdfs:label Bracket epiphyses Haakvormige epifysen CANDIDATE -en nl HP:0010579 rdfs:label Cone-shaped epiphysis Kegel-vormige epifyse CANDIDATE -en nl HP:0010579 IAO:0000115 Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery NOT_TRANSLATED -en nl HP:0010580 rdfs:label Enlarged epiphyses Vergrote epifysen CANDIDATE -en nl HP:0010580 IAO:0000115 Increased size of epiphyses Increased size of epiphyses NOT_TRANSLATED -en nl HP:0010582 rdfs:label Irregular epiphyses Irregulaire epifysen CANDIDATE -en nl HP:0010582 IAO:0000115 An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance NOT_TRANSLATED -en nl HP:0010583 rdfs:label Ivory epiphyses Ivoren epifysen CANDIDATE -en nl HP:0010583 IAO:0000115 Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED -en nl HP:0010584 rdfs:label Pseudoepiphyses Pseudo-epifysen CANDIDATE -en nl HP:0010585 rdfs:label Small epiphyses Kleine epifysen CANDIDATE -en nl HP:0010585 IAO:0000115 Reduction in the size or volume of epiphyses Reduction in the size or volume of epiphyses NOT_TRANSLATED -en nl HP:0010587 rdfs:label Triangular epiphyses Driehoekige epifysen CANDIDATE -en nl HP:0010588 rdfs:label Premature epimetaphyseal fusion Premature epimetafysaire fusie CANDIDATE -en nl HP:0010588 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED -en nl HP:0010590 rdfs:label Abnormality of the distal femoral epiphysis Afwijking van de distale epifyse van femur CANDIDATE -en nl HP:0010590 IAO:0000115 Any abnormality of the distal epiphysis of the femur Any abnormality of the distal epiphysis of the femur NOT_TRANSLATED -en nl HP:0010591 rdfs:label Abnormality of the proximal tibial epiphysis Afwijking van de proximale epifyse van de tibia CANDIDATE -en nl HP:0010591 IAO:0000115 Any abnormality of the proximal epiphysis of the tibia Any abnormality of the proximal epiphysis of the tibia NOT_TRANSLATED -en nl HP:0010592 rdfs:label Abnormality of the distal tibial epiphysis Afwijking van de distale epifyse van de tibia CANDIDATE -en nl HP:0010593 rdfs:label Abnormality of fibular epiphyses Afwijking van epifysen van de fibula CANDIDATE -en nl HP:0010594 rdfs:label Abnormality of the proximal fibular epiphysis Afwijking van de proximale epifyse van de fibula CANDIDATE -en nl HP:0010594 IAO:0000115 Any abnormality of the proximal epiphysis of the fibula Any abnormality of the proximal epiphysis of the fibula NOT_TRANSLATED -en nl HP:0010595 rdfs:label Abnormality of the distal fibular epiphysis Afwijking van de distale epifyse van de fibula CANDIDATE -en nl HP:0010595 IAO:0000115 Any abnormality of the distal epiphysis of the fibula Any abnormality of the distal epiphysis of the fibula NOT_TRANSLATED -en nl HP:0010596 rdfs:label Abnormality of the proximal radial epiphysis Afwijking van de proximale epifyse van de radius CANDIDATE -en nl HP:0010596 IAO:0000115 Any abnormality of the proximal epiphysis of the radius Any abnormality of the proximal epiphysis of the radius NOT_TRANSLATED -en nl HP:0010597 rdfs:label Abnormality of the distal radial epiphysis Afwijking van de distale epifyse van de radius CANDIDATE -en nl HP:0010597 IAO:0000115 Any abnormality of the distal epiphysis of the radius Any abnormality of the distal epiphysis of the radius NOT_TRANSLATED -en nl HP:0010598 rdfs:label Abnormality of the proximal humeral epiphysis Afwijking van de proximale epifyse van de humerus CANDIDATE -en nl HP:0010598 IAO:0000115 Any abnormality of the proximal epiphysis of the humerus Any abnormality of the proximal epiphysis of the humerus NOT_TRANSLATED -en nl HP:0010599 rdfs:label Abnormality of the distal humeral epiphysis Afwijking van de distale epifyse van humerus CANDIDATE -en nl HP:0010599 IAO:0000115 Any abnormality of the distal epiphysis of the humerus Any abnormality of the distal epiphysis of the humerus NOT_TRANSLATED -en nl HP:0010600 rdfs:label Abnormal distal ulnar epiphysis morphology Afwijking van de distale epifyse van de ulna CANDIDATE -en nl HP:0010600 IAO:0000115 Any abnormality of the distal epiphysis of the ulna Any abnormality of the distal epiphysis of the ulna NOT_TRANSLATED -en nl HP:0010601 rdfs:label Abnormal proximal ulnar epiphysis morphology Afwijking van de proximale epifyse van de ulna CANDIDATE -en nl HP:0010601 IAO:0000115 Any abnormality of the proximal epiphysis of the ulna Any abnormality of the proximal epiphysis of the ulna NOT_TRANSLATED -en nl HP:0010602 rdfs:label Type 2 muscle fiber predominance Overheersing van type 2 spiervezel CANDIDATE -en nl HP:0010602 IAO:0000115 An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy) An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy) NOT_TRANSLATED -en nl HP:0010603 rdfs:label Odontogenic keratocysts of the jaw Odontogenische keratocysten van de kaak CANDIDATE -en nl HP:0010603 IAO:0000115 A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour NOT_TRANSLATED -en nl HP:0010604 rdfs:label Cyst of the eyelid Cyste van het ooglid CANDIDATE -en nl HP:0010605 rdfs:label Chalazion Chalazion CANDIDATE -en nl HP:0010605 IAO:0000115 A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes NOT_TRANSLATED -en nl HP:0010606 rdfs:label Hordeolum Hordeolum CANDIDATE -en nl HP:0010606 IAO:0000115 An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling NOT_TRANSLATED -en nl HP:0010607 rdfs:label Hordeolum externum Hordeolum externum CANDIDATE -en nl HP:0010607 IAO:0000115 Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling NOT_TRANSLATED -en nl HP:0010608 rdfs:label Hordeolum internum Hordeolum internum CANDIDATE -en nl HP:0010608 IAO:0000115 Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling NOT_TRANSLATED -en nl HP:0010609 rdfs:label Skin tags Skin tags CANDIDATE -en nl HP:0010609 IAO:0000115 Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region NOT_TRANSLATED -en nl HP:0010610 rdfs:label Palmar pits Palmaire pits CANDIDATE -en nl HP:0010612 rdfs:label Plantar pits Plantaire pits CANDIDATE -en nl HP:0010612 IAO:0000115 The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot NOT_TRANSLATED -en nl HP:0010614 rdfs:label Fibroma Fibroom CANDIDATE -en nl HP:0010614 IAO:0000115 "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term ""fibroblastic"" or ""fibromatous"" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors" "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term ""fibroblastic"" or ""fibromatous"" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors" NOT_TRANSLATED -en nl HP:0010615 rdfs:label Angiofibromas Angiofibromen CANDIDATE -en nl HP:0010615 IAO:0000115 Angiofibroma consist of many often dilated vessels Angiofibroma consist of many often dilated vessels NOT_TRANSLATED -en nl HP:0010616 rdfs:label Lung fibroma Long fibroom CANDIDATE -en nl HP:0010616 IAO:0000115 The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule NOT_TRANSLATED -en nl HP:0010617 rdfs:label Cardiac fibroma Cardial fibroom CANDIDATE -en nl HP:0010617 IAO:0000115 A fibroma of the heart A fibroma of the heart NOT_TRANSLATED -en nl HP:0010618 rdfs:label Ovarian fibroma Ovarieel fibroom CANDIDATE -en nl HP:0010618 IAO:0000115 The presence of a fibroma of the ovary The presence of a fibroma of the ovary NOT_TRANSLATED -en nl HP:0010619 rdfs:label Fibroadenoma of the breast Fibroadenoom van de borst CANDIDATE -en nl HP:0010619 IAO:0000115 A benign biphasic tumor of the breast with epithelial and stromal components A benign biphasic tumor of the breast with epithelial and stromal components NOT_TRANSLATED -en nl HP:0010620 rdfs:label Malar prominence Malar prominence NOT_TRANSLATED -en nl HP:0010620 IAO:0000115 Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face NOT_TRANSLATED -en nl HP:0010621 rdfs:label Cutaneous syndactyly of toes Cutane syndactylie van tenen CANDIDATE -en nl HP:0010621 IAO:0000115 A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria NOT_TRANSLATED -en nl HP:0010622 rdfs:label Neoplasm of the skeletal system Neoplasma van het skeletsysteem CANDIDATE -en nl HP:0010622 IAO:0000115 A tumor (abnormal growth of tissue) of the skeleton A tumor (abnormal growth of tissue) of the skeleton NOT_TRANSLATED -en nl HP:0010624 rdfs:label Aplastic/hypoplastic toenail Aplastische/hypoplastische teennagel CANDIDATE -en nl HP:0010624 IAO:0000115 Absence or underdevelopment of the toenail Absence or underdevelopment of the toenail NOT_TRANSLATED -en nl HP:0010625 rdfs:label Anterior pituitary dysgenesis Anterieure hypofyse dysgenesie CANDIDATE -en nl HP:0010625 IAO:0000115 Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis NOT_TRANSLATED -en nl HP:0010626 rdfs:label Anterior pituitary agenesis Anterieure hypofyse agenesie CANDIDATE -en nl HP:0010626 IAO:0000115 Absence of the anterior pituitary gland resulting from a developmental defect Absence of the anterior pituitary gland resulting from a developmental defect NOT_TRANSLATED -en nl HP:0010627 rdfs:label Anterior pituitary hypoplasia Anterieure hypofyse hypoplasie CANDIDATE -en nl HP:0010627 IAO:0000115 Underdevelopment of the anterior pituitary gland Underdevelopment of the anterior pituitary gland NOT_TRANSLATED -en nl HP:0010628 rdfs:label Facial palsy Bellse parese CANDIDATE -en nl HP:0010628 IAO:0000115 Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form NOT_TRANSLATED -en nl HP:0010629 rdfs:label Abnormal morphology of the cortex of the humerus Afwijkende morfologie van de cortex van de humerus CANDIDATE -en nl HP:0010629 IAO:0000115 Any abnormality affecting the cortex of the humerus Any abnormality affecting the cortex of the humerus NOT_TRANSLATED -en nl HP:0010630 rdfs:label Abnormality of metatarsal epiphysis Afwijking van metatarsale epifyse CANDIDATE -en nl HP:0010630 IAO:0000115 Any abnormality of a metatarsal bone epiphysis Any abnormality of a metatarsal bone epiphysis NOT_TRANSLATED -en nl HP:0010631 rdfs:label Abnormality of the epiphyses of the feet Afwijking van de epifysen van de voeten CANDIDATE -en nl HP:0010631 IAO:0000115 Any abnormality of the epiphyses of the feet Any abnormality of the epiphyses of the feet NOT_TRANSLATED -en nl HP:0010632 rdfs:label Total anosmia Totale anosmie CANDIDATE -en nl HP:0010632 IAO:0000115 Inability to detect any qualitative olfactory sensation Inability to detect any qualitative olfactory sensation NOT_TRANSLATED -en nl HP:0010633 rdfs:label Partial anosmia Partiële anosmie CANDIDATE -en nl HP:0010633 IAO:0000115 Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) NOT_TRANSLATED -en nl HP:0010634 rdfs:label Total hyposmia Totale hyposmie CANDIDATE -en nl HP:0010634 IAO:0000115 Reduced ability to detect any qualitative olfactory sensation Reduced ability to detect any qualitative olfactory sensation NOT_TRANSLATED -en nl HP:0010635 rdfs:label Partial hyposmia Partiële hyposmie CANDIDATE -en nl HP:0010635 IAO:0000115 Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) NOT_TRANSLATED -en nl HP:0010636 rdfs:label Schizencephaly Schizencephalie CANDIDATE -en nl HP:0010636 IAO:0000115 The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area NOT_TRANSLATED -en nl HP:0010637 rdfs:label Conjunctival amyloidosis Conjunctivale amyloïdose CANDIDATE -en nl HP:0010637 IAO:0000115 A form of amyloidosis that affects the conjunctiva A form of amyloidosis that affects the conjunctiva NOT_TRANSLATED -en nl HP:0010638 rdfs:label Elevated alkaline phosphatase of hepatic origin Verhoogd alkalisch fosfatase van hepatische oorsprong CANDIDATE -en nl HP:0010638 IAO:0000115 An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED -en nl HP:0010639 rdfs:label Elevated alkaline phosphatase of bone origin Verhoogd alkalisch fosfatase met oorsprong van bot CANDIDATE -en nl HP:0010639 IAO:0000115 An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED -en nl HP:0010640 rdfs:label Abnormality of the nasal cavity Afwijking van de neusholte CANDIDATE -en nl HP:0010640 IAO:0000115 Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures) Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures) NOT_TRANSLATED -en nl HP:0010641 rdfs:label Abnormality of the midnasal cavity Afwijking van de midnasale holte CANDIDATE -en nl HP:0010641 IAO:0000115 Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae NOT_TRANSLATED -en nl HP:0010643 rdfs:label Midnasal atresia Midnasale atresie CANDIDATE -en nl HP:0010643 IAO:0000115 Absence or abnormal closure of the midnasal cavity Absence or abnormal closure of the midnasal cavity NOT_TRANSLATED -en nl HP:0010644 rdfs:label Midnasal stenosis Midnasale stenose CANDIDATE -en nl HP:0010644 IAO:0000115 Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress NOT_TRANSLATED -en nl HP:0010645 rdfs:label Aplasia of the distal phalanges of the toes Aplasie van de distale falangen van de tenen CANDIDATE -en nl HP:0010645 IAO:0000115 Absence of the distal phalanges of the toes Absence of the distal phalanges of the toes NOT_TRANSLATED -en nl HP:0010646 rdfs:label Cervical spine instability Instabiliteit van de cervicale wervelkolom CANDIDATE -en nl HP:0010646 IAO:0000115 An abnormal lack of stability of the cervical spine An abnormal lack of stability of the cervical spine NOT_TRANSLATED -en nl HP:0010647 rdfs:label Abnormal elasticity of skin Abnormale elasticiteit van de huid CANDIDATE -en nl HP:0010647 IAO:0000115 Any abnormal increase or reduction in skin elasticity Any abnormal increase or reduction in skin elasticity NOT_TRANSLATED -en nl HP:0010648 rdfs:label Dermal translucency Dermale translucentie CANDIDATE -en nl HP:0010648 IAO:0000115 An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility NOT_TRANSLATED -en nl HP:0010649 rdfs:label Flat nasal alae Vlakke alea nasi CANDIDATE -en nl HP:0010649 IAO:0000115 An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae) An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae) NOT_TRANSLATED -en nl HP:0010650 rdfs:label Hypoplasia of the premaxilla Hypoplasie van de premaxilla CANDIDATE -en nl HP:0010650 IAO:0000115 An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures NOT_TRANSLATED -en nl HP:0010651 rdfs:label Abnormal meningeal morphology Afwijking van de meningen CANDIDATE -en nl HP:0010651 IAO:0000115 An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater NOT_TRANSLATED -en nl HP:0010652 rdfs:label Abnormal dura mater morphology Afwijking van de dura mater CANDIDATE -en nl HP:0010652 IAO:0000115 An abnormality of the Dura mater An abnormality of the Dura mater NOT_TRANSLATED -en nl HP:0010653 rdfs:label Abnormality of the falx cerebri Afwijking van de falx cerebri CANDIDATE -en nl HP:0010653 IAO:0000115 An abnormality of the Falx cerebri An abnormality of the Falx cerebri NOT_TRANSLATED -en nl HP:0010654 rdfs:label Aplasia of the falx cerebri Aplasie van de falx cerebri CANDIDATE -en nl HP:0010654 IAO:0000115 A developmental defect characterized by aplasia of the Falx cerebri A developmental defect characterized by aplasia of the Falx cerebri NOT_TRANSLATED -en nl HP:0010655 rdfs:label Epiphyseal stippling Epifysaire vlekkerige calcificatie CANDIDATE -en nl HP:0010655 IAO:0000115 The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses NOT_TRANSLATED -en nl HP:0010656 rdfs:label Abnormal epiphyseal ossification Afwijkende epifysaire ossificatie CANDIDATE -en nl HP:0010656 IAO:0000115 An abnormality of the formation and mineralization of an epiphysis An abnormality of the formation and mineralization of an epiphysis NOT_TRANSLATED -en nl HP:0010657 rdfs:label Patchy reduction of bone mineral density Fragmentarische vermindering van de botmineraaldichtheid CANDIDATE -en nl HP:0010657 IAO:0000115 Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED -en nl HP:0010658 rdfs:label Patchy changes of bone mineral density Fragmentarische veranderingen van de botmineraaldichtheid CANDIDATE -en nl HP:0010658 IAO:0000115 Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density) Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density) NOT_TRANSLATED -en nl HP:0010659 rdfs:label Patchy variation in bone mineral density Fragmentarische variatie van de botmineraaldichtheid CANDIDATE -en nl HP:0010659 IAO:0000115 Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays NOT_TRANSLATED -en nl HP:0010660 rdfs:label Abnormal hand bone ossification Abnormale hand bot ossificatie CANDIDATE -en nl HP:0010660 IAO:0000115 An abnormality of the formation and mineralization of any bone of the skeleton of hand An abnormality of the formation and mineralization of any bone of the skeleton of hand NOT_TRANSLATED -en nl HP:0010661 rdfs:label Absence of the third cerebral ventricle Afwezigheid van de derde cerebrale ventrikel CANDIDATE -en nl HP:0010661 IAO:0000115 A developmental defect characterized by the absence of the third ventricle A developmental defect characterized by the absence of the third ventricle NOT_TRANSLATED -en nl HP:0010662 rdfs:label Abnormality of the diencephalon Afwijking van het diencephalon CANDIDATE -en nl HP:0010662 IAO:0000115 An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain NOT_TRANSLATED -en nl HP:0010663 rdfs:label Abnormality of thalamus morphology Afwijking van de thalamus morfologie CANDIDATE -en nl HP:0010663 IAO:0000115 An abnormality of the thalamus An abnormality of the thalamus NOT_TRANSLATED -en nl HP:0010664 rdfs:label Fusion of the left and right thalami Fusie van de linker en rechter thalamus CANDIDATE -en nl HP:0010664 IAO:0000115 A developmental defect characterized by fusion of the left and right halves of the thalamus A developmental defect characterized by fusion of the left and right halves of the thalamus NOT_TRANSLATED -en nl HP:0010665 rdfs:label Bilateral coxa valga Bilaterale coxa valga CANDIDATE -en nl HP:0010665 IAO:0000115 The presence of bilateral coxa valga The presence of bilateral coxa valga NOT_TRANSLATED -en nl HP:0010666 rdfs:label Hypoplasia of the anterior nasal spine Hypoplasie van de anterieure spina nasalis CANDIDATE -en nl HP:0010666 IAO:0000115 Underdevelopment of the anterior nasal spine of maxilla Underdevelopment of the anterior nasal spine of maxilla NOT_TRANSLATED -en nl HP:0010667 rdfs:label Aplasia of the maxilla Aplasie van de maxilla CANDIDATE -en nl HP:0010667 IAO:0000115 A congenital defect characterized by absence of the Maxilla A congenital defect characterized by absence of the Maxilla NOT_TRANSLATED -en nl HP:0010668 rdfs:label Abnormal zygomatic bone morphology Afwijking van het os zygomaticum CANDIDATE -en nl HP:0010668 IAO:0000115 An abnormality of the zygomatic bone An abnormality of the zygomatic bone NOT_TRANSLATED -en nl HP:0010669 rdfs:label Hypoplasia of the zygomatic bone Hypoplasie van het os zygomaticum CANDIDATE -en nl HP:0010669 IAO:0000115 Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch NOT_TRANSLATED -en nl HP:0010672 rdfs:label Abnormality of the third metatarsal bone Afwijking van het derde metatarsale bot CANDIDATE -en nl HP:0010672 IAO:0000115 An abnormality of the third metatarsal bone An abnormality of the third metatarsal bone NOT_TRANSLATED -en nl HP:0010674 rdfs:label Abnormality of the curvature of the vertebral column Afwijking van de kromming van de wervelkolom CANDIDATE -en nl HP:0010674 IAO:0000115 The presence of an abnormal curvature of the vertebral column The presence of an abnormal curvature of the vertebral column NOT_TRANSLATED -en nl HP:0010675 rdfs:label Abnormal foot bone ossification Abnormale voet bot ossificatie CANDIDATE -en nl HP:0010675 IAO:0000115 An abnormality of the formation and mineralization of any bone of the skeleton of foot An abnormality of the formation and mineralization of any bone of the skeleton of foot NOT_TRANSLATED -en nl HP:0010676 rdfs:label Mechanical ileus Mechanische ileus CANDIDATE -en nl HP:0010677 rdfs:label Enuresis nocturna Enuresis nocturna CANDIDATE -en nl HP:0010677 IAO:0000115 Enuresis occurring during sleeping hours Enuresis occurring during sleeping hours NOT_TRANSLATED -en nl HP:0010678 rdfs:label Enuresis diurna Enuresis diurna CANDIDATE -en nl HP:0010678 IAO:0000115 Enuresis occurring during waking hours of the day Enuresis occurring during waking hours of the day NOT_TRANSLATED -en nl HP:0010679 rdfs:label Elevated tissue non-specific alkaline phosphatase Verhoogd weefsel aspecifiek alkalisch fosfatase CANDIDATE -en nl HP:0010679 IAO:0000115 An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED -en nl HP:0010680 rdfs:label Elevated alkaline phosphatase of renal origin Verhoogd alkalisch fosfatase van renale oorsprong CANDIDATE -en nl HP:0010680 IAO:0000115 An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED -en nl HP:0010681 rdfs:label Elevated intestinal alkaline phosphatase Verhoogde intestinaal alkalisch fosfatase CANDIDATE -en nl HP:0010681 IAO:0000115 An abnormally increased level of alkaline phosphatase, intestinal type in the blood An abnormally increased level of alkaline phosphatase, intestinal type in the blood NOT_TRANSLATED -en nl HP:0010682 rdfs:label Elevated placental alkaline phosphatase Verhoogd placenta alkalisch fosfatase CANDIDATE -en nl HP:0010682 IAO:0000115 An abnormally increased level of alkaline phosphatase, placental type in the blood An abnormally increased level of alkaline phosphatase, placental type in the blood NOT_TRANSLATED -en nl HP:0010683 rdfs:label Low tissue non-specific alkaline phosphatase Laag weefsel-aspecifiek alkalisch fosfatase CANDIDATE -en nl HP:0010683 IAO:0000115 An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED -en nl HP:0010684 rdfs:label Low alkaline phosphatase of bone origin Laag alkalisch fosfatase oorspronkelijk van bot CANDIDATE -en nl HP:0010684 IAO:0000115 An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood NOT_TRANSLATED -en nl HP:0010685 rdfs:label Low alkaline phosphatase of renal origin Laag alkalisch fosfatase van renale oorsprong CANDIDATE -en nl HP:0010685 IAO:0000115 An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood NOT_TRANSLATED -en nl HP:0010686 rdfs:label Low alkaline phosphatase of hepatic origin Laag alkalisch fosfatase van hepatische oorsprong CANDIDATE -en nl HP:0010686 IAO:0000115 An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood NOT_TRANSLATED -en nl HP:0010687 rdfs:label Low intestinal alkaline phosphatase Verlaagd intestinaal alkalisch fosfatase CANDIDATE -en nl HP:0010687 IAO:0000115 An abnormally reduced level of alkaline phosphatase, intestinal type in the blood An abnormally reduced level of alkaline phosphatase, intestinal type in the blood NOT_TRANSLATED -en nl HP:0010688 rdfs:label Low placental alkaline phosphatase Laag placenta alkalisch fosfatase CANDIDATE -en nl HP:0010688 IAO:0000115 An abnormally reduced level of alkaline phosphatase, placental type in the blood An abnormally reduced level of alkaline phosphatase, placental type in the blood NOT_TRANSLATED -en nl HP:0010689 rdfs:label Mirror image polydactyly Spiegelbeeld polydactylie CANDIDATE -en nl HP:0010689 IAO:0000115 A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes NOT_TRANSLATED -en nl HP:0010690 rdfs:label Mirror image hand polydactyly Spiegelbeeld hand polydactylie CANDIDATE -en nl HP:0010690 IAO:0000115 Mirror image duplication of digits affecting the hands only Mirror image duplication of digits affecting the hands only NOT_TRANSLATED -en nl HP:0010691 rdfs:label Mirror image foot polydactyly Spiegelbeeld voet polydactylie CANDIDATE -en nl HP:0010691 IAO:0000115 Mirror image duplication of digits affecting the feet Mirror image duplication of digits affecting the feet NOT_TRANSLATED -en nl HP:0010692 rdfs:label 2-5 finger syndactyly 2-5 vinger syndactylie CANDIDATE -en nl HP:0010692 IAO:0000115 Syndactyly with fusion of fingers two to five Syndactyly with fusion of fingers two to five NOT_TRANSLATED -en nl HP:0010693 rdfs:label Pulverulent cataract Pulverachtige cataract CANDIDATE -en nl HP:0010693 IAO:0000115 A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally NOT_TRANSLATED -en nl HP:0010694 rdfs:label Lamellar pulverulent cataract Lamellair pulverachtige cataract CANDIDATE -en nl HP:0010694 IAO:0000115 "A Lamellar cataract with a pulverulent (punctate, ""dust-like"" opacities) appearance" "A Lamellar cataract with a pulverulent (punctate, ""dust-like"" opacities) appearance" NOT_TRANSLATED -en nl HP:0010695 rdfs:label Sutural cataract Suturaal cataract CANDIDATE -en nl HP:0010695 IAO:0000115 A type of congenital cataract in which the opacity follows the anterior or posterior Y suture A type of congenital cataract in which the opacity follows the anterior or posterior Y suture NOT_TRANSLATED -en nl HP:0010696 rdfs:label Polar cataract Polair cataract CANDIDATE -en nl HP:0010696 IAO:0000115 A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens NOT_TRANSLATED -en nl HP:0010697 rdfs:label Anterior pyramidal cataract Anterior pyramidal cataract NOT_TRANSLATED -en nl HP:0010697 IAO:0000115 A type of anterior polar cataract which projects as a conical opacity into the anterior chamber A type of anterior polar cataract which projects as a conical opacity into the anterior chamber NOT_TRANSLATED -en nl HP:0010698 rdfs:label Nuclear pulverulent cataract Nucleair pulverachtige cataract CANDIDATE -en nl HP:0010698 IAO:0000115 A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus NOT_TRANSLATED -en nl HP:0010699 rdfs:label Triangular nuclear cataract Driehoekig nucleair cataract CANDIDATE -en nl HP:0010699 IAO:0000115 A nuclear cataract with a triangular form A nuclear cataract with a triangular form NOT_TRANSLATED -en nl HP:0010701 rdfs:label Abnormal immunoglobulin level Afwijkend immunoglobuline niveau CANDIDATE -en nl HP:0010701 IAO:0000115 An abnormal deviation from normal levels of immunoglobulins in blood An abnormal deviation from normal levels of immunoglobulins in blood NOT_TRANSLATED -en nl HP:0010702 rdfs:label Increased circulating antibody level Verhoogd antistoffen niveau in bloed CANDIDATE -en nl HP:0010702 IAO:0000115 An increased level of gamma globulin (immunoglobulin) in the blood An increased level of gamma globulin (immunoglobulin) in the blood NOT_TRANSLATED -en nl HP:0010704 rdfs:label 1-2 finger syndactyly 1-2 vingersyndactylie CANDIDATE -en nl HP:0010704 IAO:0000115 Syndactyly with fusion of fingers one and two Syndactyly with fusion of fingers one and two NOT_TRANSLATED -en nl HP:0010705 rdfs:label 4-5 finger syndactyly 4-5 vinger syndactylie CANDIDATE -en nl HP:0010705 IAO:0000115 Syndactyly with fusion of fingers four and five Syndactyly with fusion of fingers four and five NOT_TRANSLATED -en nl HP:0010706 rdfs:label 1-3 finger syndactyly 1-3 vingersyndactylie CANDIDATE -en nl HP:0010706 IAO:0000115 Syndactyly with fusion of fingers one to three Syndactyly with fusion of fingers one to three NOT_TRANSLATED -en nl HP:0010707 rdfs:label 1-4 finger syndactyly 1-4 vinger syndactylie CANDIDATE -en nl HP:0010707 IAO:0000115 Syndactyly with fusion of fingers one to four Syndactyly with fusion of fingers one to four NOT_TRANSLATED -en nl HP:0010708 rdfs:label 1-5 finger syndactyly 1-5 vinger syndactylie CANDIDATE -en nl HP:0010708 IAO:0000115 Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand) Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand) NOT_TRANSLATED -en nl HP:0010709 rdfs:label 2-4 finger syndactyly 2-4 vinger syndactylie CANDIDATE -en nl HP:0010709 IAO:0000115 Syndactyly with fusion of the fingers two to four Syndactyly with fusion of the fingers two to four NOT_TRANSLATED -en nl HP:0010710 rdfs:label 3-5 finger syndactyly 3-5 vinger syndactylie CANDIDATE -en nl HP:0010710 IAO:0000115 Syndactyly with fusion of fingers three to five Syndactyly with fusion of fingers three to five NOT_TRANSLATED -en nl HP:0010711 rdfs:label 1-2 toe syndactyly 1-2 teen syndactylie CANDIDATE -en nl HP:0010711 IAO:0000115 Syndactyly with fusion of toes one and two Syndactyly with fusion of toes one and two NOT_TRANSLATED -en nl HP:0010712 rdfs:label 1-4 toe syndactyly 1-4 teen syndactylie CANDIDATE -en nl HP:0010712 IAO:0000115 Syndactyly with fusion of toes one to four Syndactyly with fusion of toes one to four NOT_TRANSLATED -en nl HP:0010713 rdfs:label 1-5 toe syndactyly 1-5 teen syndactylie CANDIDATE -en nl HP:0010713 IAO:0000115 Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot) Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot) NOT_TRANSLATED -en nl HP:0010714 rdfs:label 2-4 toe syndactyly 2-4 teen syndactylie CANDIDATE -en nl HP:0010714 IAO:0000115 Syndactyly with fusion of toes two to four Syndactyly with fusion of toes two to four NOT_TRANSLATED -en nl HP:0010715 rdfs:label 2-5 toe syndactyly 2-5 teen syndactylie CANDIDATE -en nl HP:0010715 IAO:0000115 Syndactyly with fusion of toes two to five Syndactyly with fusion of toes two to five NOT_TRANSLATED -en nl HP:0010716 rdfs:label 3-5 toe syndactyly 3-5 teen syndactylie CANDIDATE -en nl HP:0010716 IAO:0000115 Syndactyly with fusion of toes three to five Syndactyly with fusion of toes three to five NOT_TRANSLATED -en nl HP:0010717 rdfs:label Osseous syndactyly of toes Osseuze syndactylie van tenen CANDIDATE -en nl HP:0010717 IAO:0000115 "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED -en nl HP:0010719 rdfs:label Abnormality of hair texture Afwijking van haar textuur CANDIDATE -en nl HP:0010719 IAO:0000115 An abnormality of the texture of the hair An abnormality of the texture of the hair NOT_TRANSLATED -en nl HP:0010720 rdfs:label Abnormal hair pattern Afwijkend haarpatroon CANDIDATE -en nl HP:0010720 IAO:0000115 An abnormality of the distribution of hair growth An abnormality of the distribution of hair growth NOT_TRANSLATED -en nl HP:0010721 rdfs:label Abnormal hair whorl Abnormal hair whorl NOT_TRANSLATED -en nl HP:0010721 IAO:0000115 An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair) An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair) NOT_TRANSLATED -en nl HP:0010722 rdfs:label Asymmetry of the ears Asymmetrie van de oren CANDIDATE -en nl HP:0010722 IAO:0000115 An asymmetriy, i.e., difference in size, shape or position between the left and right ear An asymmetriy, i.e., difference in size, shape or position between the left and right ear NOT_TRANSLATED -en nl HP:0010723 rdfs:label Cystic lesions of the pinnae Cysteuze laesies van de pinnae CANDIDATE -en nl HP:0010724 rdfs:label Advanced pneumatization of the mastoid process Vergevorderde pneumatisatie van processus mastoideus CANDIDATE -en nl HP:0010724 IAO:0000115 An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms NOT_TRANSLATED -en nl HP:0010726 rdfs:label Prominent corneal nerve fibers Prominente corneale zenuwvezels CANDIDATE -en nl HP:0010726 IAO:0000115 Abnormal prominence of the corneal nerve fibers Abnormal prominence of the corneal nerve fibers NOT_TRANSLATED -en nl HP:0010727 rdfs:label Spontaneous rupture of the globe Spontane ruptuur van de oogbal CANDIDATE -en nl HP:0010727 IAO:0000115 Rupture of the eyeball not due to trauma Rupture of the eyeball not due to trauma NOT_TRANSLATED -en nl HP:0010728 rdfs:label Aplasia of the retina Aplasie van de retina CANDIDATE -en nl HP:0010728 IAO:0000115 A developmental defect characterized by absence of the retina A developmental defect characterized by absence of the retina NOT_TRANSLATED -en nl HP:0010729 rdfs:label Cherry red spot of the macula Kersrode macula CANDIDATE -en nl HP:0010729 IAO:0000115 Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula NOT_TRANSLATED -en nl HP:0010730 rdfs:label Double eyebrow Dubbele wenkbrauw CANDIDATE -en nl HP:0010730 IAO:0000115 This may present as a partial or complete duplication of the eyebrows This may present as a partial or complete duplication of the eyebrows NOT_TRANSLATED -en nl HP:0010731 rdfs:label Extension of eyebrows towards upper eyelid Verlenging van wenkbrauwen richting bovenste ooglid CANDIDATE -en nl HP:0010731 IAO:0000115 The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid NOT_TRANSLATED -en nl HP:0010732 rdfs:label Nodular changes affecting the eyelids Nodulaire veranderingen die de oogleden beïnvloeden CANDIDATE -en nl HP:0010732 IAO:0000115 Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more NOT_TRANSLATED -en nl HP:0010733 rdfs:label Naevus flammeus of the eyelid Naevus flammeus van het ooglid CANDIDATE -en nl HP:0010733 IAO:0000115 Naevus flammeus localised in the skin of the eyelid Naevus flammeus localised in the skin of the eyelid NOT_TRANSLATED -en nl HP:0010734 rdfs:label Fibrous dysplasia of the bones Fibreuze dysplasie van de botten CANDIDATE -en nl HP:0010734 IAO:0000115 Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia) Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia) NOT_TRANSLATED -en nl HP:0010735 rdfs:label Polyostotic fibrous dysplasia Polyostotische fibreuze dysplasie CANDIDATE -en nl HP:0010735 IAO:0000115 Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome NOT_TRANSLATED -en nl HP:0010736 rdfs:label Monostotic fibrous dysplasia Monostotische fibreuze dysplasie CANDIDATE -en nl HP:0010736 IAO:0000115 Fibrous dysplasia of the bones were lesions are localized in only one bone Fibrous dysplasia of the bones were lesions are localized in only one bone NOT_TRANSLATED -en nl HP:0010739 rdfs:label Osteopoikilosis Osteopoikilose CANDIDATE -en nl HP:0010739 IAO:0000115 Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake NOT_TRANSLATED -en nl HP:0010740 rdfs:label Osteopathia striata Osteopathia striata CANDIDATE -en nl HP:0010740 IAO:0000115 A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance NOT_TRANSLATED -en nl HP:0010741 rdfs:label Pedal edema Oedeem van onderste ledematen CANDIDATE -en nl HP:0010741 IAO:0000115 An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg NOT_TRANSLATED -en nl HP:0010742 rdfs:label Edema of the upper limbs Oedeem van bovenste ledematen CANDIDATE -en nl HP:0010742 IAO:0000115 An abnormal accumulation of fluid beneath the skin of the arms An abnormal accumulation of fluid beneath the skin of the arms NOT_TRANSLATED -en nl HP:0010743 rdfs:label Short metatarsal Korte metatarsaal CANDIDATE -en nl HP:0010743 IAO:0000115 Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe NOT_TRANSLATED -en nl HP:0010744 rdfs:label Absent metatarsal bone Afwezig metatarsaal bot CANDIDATE -en nl HP:0010744 IAO:0000115 A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone NOT_TRANSLATED -en nl HP:0010745 rdfs:label Aplasia of the phalanges of the toes Aplasie van de falangen van de tenen CANDIDATE -en nl HP:0010745 IAO:0000115 Absence of a digit or of one or more phalanges of a toe Absence of a digit or of one or more phalanges of a toe NOT_TRANSLATED -en nl HP:0010746 rdfs:label Hypoplasia of the phalanges of the toes Hypoplasie van de falangen van de tenen CANDIDATE -en nl HP:0010747 rdfs:label Medial flaring of the eyebrow Medial flaring of the eyebrow NOT_TRANSLATED -en nl HP:0010747 IAO:0000115 An abnormal distribution of eyebrow hair growth in the medial direction An abnormal distribution of eyebrow hair growth in the medial direction NOT_TRANSLATED -en nl HP:0010748 rdfs:label Ectopic lacrimal punctum Ectopisch punctum lacrimale CANDIDATE -en nl HP:0010748 IAO:0000115 Positioning of a lacrimal punctum other than at the medial margins of the eyelid Positioning of a lacrimal punctum other than at the medial margins of the eyelid NOT_TRANSLATED -en nl HP:0010749 rdfs:label Blepharochalasis Blepharochalasis CANDIDATE -en nl HP:0010749 IAO:0000115 Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads NOT_TRANSLATED -en nl HP:0010750 rdfs:label Dermatochalasis Dermatochalasis CANDIDATE -en nl HP:0010750 IAO:0000115 Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge NOT_TRANSLATED -en nl HP:0010751 rdfs:label Dimple chin Dimple chin NOT_TRANSLATED -en nl HP:0010751 IAO:0000115 A persistent midline depression of the skin over the fat pad of the chin A persistent midline depression of the skin over the fat pad of the chin NOT_TRANSLATED -en nl HP:0010752 rdfs:label Cleft mandible Gespleten onderkaak CANDIDATE -en nl HP:0010752 IAO:0000115 Midline deficiency of the mandible and some or all overlying tissues Midline deficiency of the mandible and some or all overlying tissues NOT_TRANSLATED -en nl HP:0010753 rdfs:label Midline defect of mandible Middellijn defect van de onderkaak CANDIDATE -en nl HP:0010754 rdfs:label Abnormality of the temporomandibular joint Afwijking van het temporomandibulaire gewricht CANDIDATE -en nl HP:0010754 IAO:0000115 An anomaly of the temporomandibular joint An anomaly of the temporomandibular joint NOT_TRANSLATED -en nl HP:0010755 rdfs:label Asymmetry of the maxilla Asymmetrie van de maxilla CANDIDATE -en nl HP:0010755 IAO:0000115 Asymmetry between the left and right sides of the maxilla Asymmetry between the left and right sides of the maxilla NOT_TRANSLATED -en nl HP:0010756 rdfs:label Aplasia/Hypoplasia of the premaxilla Aplasia/Hypoplasie van de premaxilla CANDIDATE -en nl HP:0010756 IAO:0000115 Absence or underdevelopment of the premaxilla Absence or underdevelopment of the premaxilla NOT_TRANSLATED -en nl HP:0010757 rdfs:label Aplasia of the premaxilla Aplasie van de premaxilla CANDIDATE -en nl HP:0010757 IAO:0000115 Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla NOT_TRANSLATED -en nl HP:0010758 rdfs:label Abnormality of the premaxilla Afwijking van de premaxilla CANDIDATE -en nl HP:0010758 IAO:0000115 An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate NOT_TRANSLATED -en nl HP:0010759 rdfs:label Prominence of the premaxilla Prominentie van de premaxilla CANDIDATE -en nl HP:0010759 IAO:0000115 Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla NOT_TRANSLATED -en nl HP:0010760 rdfs:label Absent toe Afwezige teen CANDIDATE -en nl HP:0010760 IAO:0000115 Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues NOT_TRANSLATED -en nl HP:0010761 rdfs:label Broad columella Brede columella CANDIDATE -en nl HP:0010761 IAO:0000115 Increased width of the columella Increased width of the columella NOT_TRANSLATED -en nl HP:0010762 rdfs:label Chordoma Chordoom CANDIDATE -en nl HP:0010762 IAO:0000115 A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis NOT_TRANSLATED -en nl HP:0010763 rdfs:label Low insertion of columella Lage insertie van columella CANDIDATE -en nl HP:0010763 IAO:0000115 Insertion of the posterior columella below the nasal base Insertion of the posterior columella below the nasal base NOT_TRANSLATED -en nl HP:0010764 rdfs:label Short eyelashes Korte wimpers CANDIDATE -en nl HP:0010764 IAO:0000115 Decreased length of the eyelashes (subjective) Decreased length of the eyelashes (subjective) NOT_TRANSLATED -en nl HP:0010765 rdfs:label Palmar hyperkeratosis Palmaire hyperkeratose CANDIDATE -en nl HP:0010765 IAO:0000115 Abnormal thickening of the skin localized to the palm of the hand Abnormal thickening of the skin localized to the palm of the hand NOT_TRANSLATED -en nl HP:0010766 rdfs:label Ectopic calcification Ectopische calcificatie CANDIDATE -en nl HP:0010766 IAO:0000115 Deposition of calcium salts in a tissue or location in which calcification does not normally occur Deposition of calcium salts in a tissue or location in which calcification does not normally occur NOT_TRANSLATED -en nl HP:0010767 rdfs:label Sacrococcygeal pilonidal abnormality Sacrococcygeale pilonidale afwijking CANDIDATE -en nl HP:0010767 IAO:0000115 The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds NOT_TRANSLATED -en nl HP:0010769 rdfs:label Pilonidal sinus Pilonidale sinus CANDIDATE -en nl HP:0010769 IAO:0000115 A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris NOT_TRANSLATED -en nl HP:0010770 rdfs:label Pilonidal fistula Pilonidale fistel CANDIDATE -en nl HP:0010771 rdfs:label Pilonidal abscess Pilonidaal abces CANDIDATE -en nl HP:0010771 IAO:0000115 A hair-containing cyst or sinus usually in the coccygeal region A hair-containing cyst or sinus usually in the coccygeal region NOT_TRANSLATED -en nl HP:0010772 rdfs:label Anomalous pulmonary venous return Abnormale pulmonale veneuze return CANDIDATE -en nl HP:0010772 IAO:0000115 A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood NOT_TRANSLATED -en nl HP:0010773 rdfs:label Partial anomalous pulmonary venous return Partieel abnormale pulmonale veneuze return CANDIDATE -en nl HP:0010773 IAO:0000115 A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung NOT_TRANSLATED -en nl HP:0010774 rdfs:label Cor triatriatum Cor triatriatum CANDIDATE -en nl HP:0010774 IAO:0000115 The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name) The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name) NOT_TRANSLATED -en nl HP:0010775 rdfs:label Vascular ring Vasculaire ring CANDIDATE -en nl HP:0010775 IAO:0000115 A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails NOT_TRANSLATED -en nl HP:0010776 rdfs:label Tracheobronchmegaly Tracheobronchomegalie CANDIDATE -en nl HP:0010776 IAO:0000115 Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection NOT_TRANSLATED -en nl HP:0010777 rdfs:label Bronchomegaly Bronchomegalie CANDIDATE -en nl HP:0010777 IAO:0000115 Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection NOT_TRANSLATED -en nl HP:0010778 rdfs:label Tracheomegaly Tracheomegalie CANDIDATE -en nl HP:0010778 IAO:0000115 Marked widening of the trachea Marked widening of the trachea NOT_TRANSLATED -en nl HP:0010779 rdfs:label Large pelvis bone Groot bekken bot CANDIDATE -en nl HP:0010779 IAO:0000115 The presence of an abnormally large pelvis The presence of an abnormally large pelvis NOT_TRANSLATED -en nl HP:0010780 rdfs:label Hyperacusis Hyperacusis CANDIDATE -en nl HP:0010780 IAO:0000115 Over-sensitivity to certain frequency ranges of sound Over-sensitivity to certain frequency ranges of sound NOT_TRANSLATED -en nl HP:0010781 rdfs:label Skin dimple Dimples van de huid CANDIDATE -en nl HP:0010781 IAO:0000115 Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation NOT_TRANSLATED -en nl HP:0010782 rdfs:label Shoulder dimple Schouder dimples CANDIDATE -en nl HP:0010782 IAO:0000115 A subtype of skin dimples occurring in the shoulder region A subtype of skin dimples occurring in the shoulder region NOT_TRANSLATED -en nl HP:0010783 rdfs:label Erythema Erytheem CANDIDATE -en nl HP:0010783 IAO:0000115 Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED -en nl HP:0010784 rdfs:label Uterine neoplasm Uterien neoplasma CANDIDATE -en nl HP:0010784 IAO:0000115 A tumor (abnormal growth of tissue) of the uterus A tumor (abnormal growth of tissue) of the uterus NOT_TRANSLATED -en nl HP:0010785 rdfs:label Gonadal neoplasm Gonadaal neoplasma CANDIDATE -en nl HP:0010785 IAO:0000115 A tumor (abnormal growth of tissue) of a gonad A tumor (abnormal growth of tissue) of a gonad NOT_TRANSLATED -en nl HP:0010786 rdfs:label Urinary tract neoplasm Urineweg neoplasma CANDIDATE -en nl HP:0010786 IAO:0000115 The presence of a neoplasm of the urinary system The presence of a neoplasm of the urinary system NOT_TRANSLATED -en nl HP:0010787 rdfs:label Genital neoplasm Genitaal neoplasma CANDIDATE -en nl HP:0010787 IAO:0000115 A tumor (abnormal growth of tissue) of the genital system A tumor (abnormal growth of tissue) of the genital system NOT_TRANSLATED -en nl HP:0010788 rdfs:label Testicular neoplasm Testiculair neoplasma CANDIDATE -en nl HP:0010788 IAO:0000115 The presence of a neoplasm of the testis The presence of a neoplasm of the testis NOT_TRANSLATED -en nl HP:0010789 rdfs:label Abnormality of the Leydig cells Afwijking van de Leydig cellen CANDIDATE -en nl HP:0010790 rdfs:label Hyoplasia of the Leydig cells Hyoplasia van de Leydig cellen CANDIDATE -en nl HP:0010790 IAO:0000115 Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone NOT_TRANSLATED -en nl HP:0010791 rdfs:label Hyperplasia of the Leydig cells Hyperplasie van de Leydig cellen CANDIDATE -en nl HP:0010791 IAO:0000115 Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone NOT_TRANSLATED -en nl HP:0010793 rdfs:label Bifid nail Bifide nagel CANDIDATE -en nl HP:0010793 IAO:0000115 A digit with two nails, with at least some soft tissue between them A digit with two nails, with at least some soft tissue between them NOT_TRANSLATED -en nl HP:0010794 rdfs:label Impaired visuospatial constructive cognition Verminderde visueel-spatiële constructieve cognitie CANDIDATE -en nl HP:0010794 IAO:0000115 Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities) Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities) NOT_TRANSLATED -en nl HP:0010795 rdfs:label Cerebellar glioma Cerebellair glioom CANDIDATE -en nl HP:0010795 IAO:0000115 A glioma affecting the cerebellum A glioma affecting the cerebellum NOT_TRANSLATED -en nl HP:0010796 rdfs:label Brainstem glioma Hersenstam glioom CANDIDATE -en nl HP:0010796 IAO:0000115 A glioma affecting the brainstem A glioma affecting the brainstem NOT_TRANSLATED -en nl HP:0010797 rdfs:label Hemangioblastoma Hemangioblastoom CANDIDATE -en nl HP:0010797 IAO:0000115 A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter NOT_TRANSLATED -en nl HP:0010798 rdfs:label Lip freckle Lip sproet CANDIDATE -en nl HP:0010798 IAO:0000115 Increased focal pigmentation of the vermilion of the lips Increased focal pigmentation of the vermilion of the lips NOT_TRANSLATED -en nl HP:0010799 rdfs:label Pinealoma Pinealoom CANDIDATE -en nl HP:0010799 IAO:0000115 A neoplasm of the pineal gland A neoplasm of the pineal gland NOT_TRANSLATED -en nl HP:0010800 rdfs:label Absent cupid's bow Afwezige cupidoboog CANDIDATE -en nl HP:0010800 IAO:0000115 Lack of paramedian peaks and median notch of the upper lip vermilion Lack of paramedian peaks and median notch of the upper lip vermilion NOT_TRANSLATED -en nl HP:0010801 rdfs:label Underdeveloped nasolabial fold Onderontwikkelde nasolabiale plooi CANDIDATE -en nl HP:0010801 IAO:0000115 Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure) Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure) NOT_TRANSLATED -en nl HP:0010802 rdfs:label Perioral hyperpigmentation Periorale hyperpigmentatie CANDIDATE -en nl HP:0010802 IAO:0000115 Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips NOT_TRANSLATED -en nl HP:0010803 rdfs:label Everted upper lip vermilion Naar buiten gekeerd bovenste lip vermiljoen CANDIDATE -en nl HP:0010803 IAO:0000115 Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip NOT_TRANSLATED -en nl HP:0010804 rdfs:label Tented upper lip vermilion Tented upper lip vermilion NOT_TRANSLATED -en nl HP:0010804 IAO:0000115 Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base NOT_TRANSLATED -en nl HP:0010805 rdfs:label Upturned corners of mouth Upturned mondhoeken CANDIDATE -en nl HP:0010805 IAO:0000115 Oral commissures positioned superior to the midline labial fissure Oral commissures positioned superior to the midline labial fissure NOT_TRANSLATED -en nl HP:0010806 rdfs:label U-Shaped upper lip vermilion U-vormig bovenste lip vermiljoen CANDIDATE -en nl HP:0010806 IAO:0000115 Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures NOT_TRANSLATED -en nl HP:0010807 rdfs:label Open bite Open beet CANDIDATE -en nl HP:0010807 IAO:0000115 Visible space between the dental arches in occlusion Visible space between the dental arches in occlusion NOT_TRANSLATED -en nl HP:0010808 rdfs:label Protruding tongue Uitstekende tong CANDIDATE -en nl HP:0010808 IAO:0000115 Tongue extending beyond the alveolar ridges or teeth at rest Tongue extending beyond the alveolar ridges or teeth at rest NOT_TRANSLATED -en nl HP:0010809 rdfs:label Broad uvula Brede uvula CANDIDATE -en nl HP:0010809 IAO:0000115 Increased width of the uvula (subjective finding) Increased width of the uvula (subjective finding) NOT_TRANSLATED -en nl HP:0010810 rdfs:label Long uvula Lange uvula CANDIDATE -en nl HP:0010810 IAO:0000115 Increased length of the uvula Increased length of the uvula NOT_TRANSLATED -en nl HP:0010811 rdfs:label Narrow uvula Smalle uvula CANDIDATE -en nl HP:0010811 IAO:0000115 Decreased width of the uvula Decreased width of the uvula NOT_TRANSLATED -en nl HP:0010812 rdfs:label Short uvula Korte uvula CANDIDATE -en nl HP:0010812 IAO:0000115 Decreased length of the uvula Decreased length of the uvula NOT_TRANSLATED -en nl HP:0010813 rdfs:label Abnormal number of hair whorls Abnormal number of hair whorls NOT_TRANSLATED -en nl HP:0010813 IAO:0000115 More than two clockwise hair whorls More than two clockwise hair whorls NOT_TRANSLATED -en nl HP:0010814 rdfs:label Abnormal position of hair whorl Abnormal position of hair whorl NOT_TRANSLATED -en nl HP:0010814 IAO:0000115 Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull NOT_TRANSLATED -en nl HP:0010815 rdfs:label Nevus sebaceous Naevus sebaceous CANDIDATE -en nl HP:0010815 IAO:0000115 A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly NOT_TRANSLATED -en nl HP:0010816 rdfs:label Epidermal nevus Epidermale naevus CANDIDATE -en nl HP:0010816 IAO:0000115 Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood NOT_TRANSLATED -en nl HP:0010817 rdfs:label Linear nevus sebaceous Lineaire naevus sebaceous CANDIDATE -en nl HP:0010817 IAO:0000115 A type of nevus sebaceous with a linear form, raised borders and yellowish color A type of nevus sebaceous with a linear form, raised borders and yellowish color NOT_TRANSLATED -en nl HP:0010818 rdfs:label Generalized tonic seizure Gegeneraliseerde tonische aanvallen CANDIDATE -en nl HP:0010818 IAO:0000115 A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities NOT_TRANSLATED -en nl HP:0010819 rdfs:label Atonic seizure Atonische aanvallen CANDIDATE -en nl HP:0010819 IAO:0000115 Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature NOT_TRANSLATED -en nl HP:0010820 rdfs:label Focal emotional seizure with crying Dacrystische aanvallen CANDIDATE -en nl HP:0010820 IAO:0000115 Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present NOT_TRANSLATED -en nl HP:0010821 rdfs:label Focal emotional seizure with laughing Gelastische aanvallen CANDIDATE -en nl HP:0010821 IAO:0000115 Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless' Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless' NOT_TRANSLATED -en nl HP:0010822 rdfs:label Scintillating scotoma Scintillerend scotoom CANDIDATE -en nl HP:0010822 IAO:0000115 A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights NOT_TRANSLATED -en nl HP:0010823 rdfs:label Ridged cranial sutures Gerichelde craniale suturen CANDIDATE -en nl HP:0010823 IAO:0000115 An overlap of the bony plates of the skull in an infant, with or without early closure An overlap of the bony plates of the skull in an infant, with or without early closure NOT_TRANSLATED -en nl HP:0010824 rdfs:label Abnormal fifth cranial nerve morphology Afwijking van de vijfde hersenzenuw CANDIDATE -en nl HP:0010824 IAO:0000115 Any structural abormality of the fifth cranial nerve Een afwijking van de vijfde hersenzenuw CANDIDATE -en nl HP:0010825 rdfs:label Abnormality of the eleventh cranial nerve Afwijking van de elfde hersenzenuw CANDIDATE -en nl HP:0010825 IAO:0000115 Abnormality of the eleventh cranial nerve Afwijking van de elfde hersenzenuw CANDIDATE -en nl HP:0010826 rdfs:label Abnormality of the twelfth cranial nerve Afwijking van de twaalfde hersenzenuw CANDIDATE -en nl HP:0010826 IAO:0000115 Abnormality of the twelfth cranial nerve Afwijking van de twaalfde hersenzenuw CANDIDATE -en nl HP:0010827 rdfs:label Abnormality of the seventh cranial nerve Afwijking van de zevende hersenzenuw CANDIDATE -en nl HP:0010827 IAO:0000115 Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve NOT_TRANSLATED -en nl HP:0010828 rdfs:label Hemifacial spasm Hemifaciale spasme CANDIDATE -en nl HP:0010828 IAO:0000115 Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions NOT_TRANSLATED -en nl HP:0010829 rdfs:label Impaired temperature sensation Verminderde temperatuur sensatie CANDIDATE -en nl HP:0010829 IAO:0000115 A reduced ability to discriminate between different temperatures A reduced ability to discriminate between different temperatures NOT_TRANSLATED -en nl HP:0010830 rdfs:label Impaired tactile sensation Verminderde tastzin CANDIDATE -en nl HP:0010830 IAO:0000115 A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus NOT_TRANSLATED -en nl HP:0010831 rdfs:label Impaired proprioception Verminderde proprioceptie CANDIDATE -en nl HP:0010831 IAO:0000115 A loss or impairment of the sensation of the relative position of parts of the body and joint position A loss or impairment of the sensation of the relative position of parts of the body and joint position NOT_TRANSLATED -en nl HP:0010832 rdfs:label Abnormality of pain sensation Afwijking van pijnsensatie CANDIDATE -en nl HP:0010832 IAO:0000115 Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain NOT_TRANSLATED -en nl HP:0010833 rdfs:label Spontaneous pain sensation Spontane pijn sensatie CANDIDATE -en nl HP:0010833 IAO:0000115 Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger NOT_TRANSLATED -en nl HP:0010834 rdfs:label Trophic changes related to pain Trofische veranderingen gerelateerd aan pijn CANDIDATE -en nl HP:0010834 IAO:0000115 Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails NOT_TRANSLATED -en nl HP:0010835 rdfs:label Dissociated sensory loss Gedissocieerd sensorisch verlies CANDIDATE -en nl HP:0010835 IAO:0000115 A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa NOT_TRANSLATED -en nl HP:0010836 rdfs:label Abnormal circulating copper concentration Afwijking van koper homeostase CANDIDATE -en nl HP:0010836 IAO:0000115 An abnormal concentration of copper An abnormal concentration of copper NOT_TRANSLATED -en nl HP:0010837 rdfs:label Decreased circulating ceruloplasmin concentration Verminderd serum ceruloplasmine CANDIDATE -en nl HP:0010837 IAO:0000115 Decreased concentration of ceruloplasmin in the blood Decreased concentration of ceruloplasmin in the blood NOT_TRANSLATED -en nl HP:0010838 rdfs:label High nonceruloplasmin-bound serum copper Hoog niet-ceruloplasmine-gebonden serum koper CANDIDATE -en nl HP:0010838 IAO:0000115 An increased concentration of non ceruloplasmin bound copper in the blood An increased concentration of non ceruloplasmin bound copper in the blood NOT_TRANSLATED -en nl HP:0010839 rdfs:label Increased urinary copper concentration Toegenomen urine koper concentratie CANDIDATE -en nl HP:0010839 IAO:0000115 An increased concentration of copper in the urine An increased concentration of copper in the urine NOT_TRANSLATED -en nl HP:0010841 rdfs:label Multifocal epileptiform discharges Multifocale epileptiforme ontladingen CANDIDATE -en nl HP:0010841 IAO:0000115 An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci) An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci) NOT_TRANSLATED -en nl HP:0010843 rdfs:label EEG with focal slow activity EEG met focale trage activiteit CANDIDATE -en nl HP:0010843 IAO:0000115 Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy) Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy) NOT_TRANSLATED -en nl HP:0010844 rdfs:label EEG with multifocal slow activity EEG met multifocale trage activiteit CANDIDATE -en nl HP:0010844 IAO:0000115 Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010845 rdfs:label EEG with generalized slow activity EEG met gegeneraliseerde trage activiteit CANDIDATE -en nl HP:0010845 IAO:0000115 Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010846 rdfs:label EEG with persistent abnormal rhythmic activity EEG met persisterende afwijkende ritmische activiteit CANDIDATE -en nl HP:0010847 rdfs:label EEG with spike-wave complexes (<2.5 Hz) EEG met piekgolfcomplexen (2,5 Hz) CANDIDATE -en nl HP:0010847 IAO:0000115 The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG) The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010848 rdfs:label EEG with spike-wave complexes (2.5-3.5 Hz) EEG met piekgolfcomplexen (2,5-3,5 Hz) CANDIDATE -en nl HP:0010848 IAO:0000115 The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG) The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010849 rdfs:label EEG with spike-wave complexes (>3.5 Hz) EEG met piekgolfcomplexen (3,5 Hz) CANDIDATE -en nl HP:0010849 IAO:0000115 The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG) The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010850 rdfs:label EEG with spike-wave complexes EEG met piekgolfcomplexen CANDIDATE -en nl HP:0010850 IAO:0000115 Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010851 rdfs:label EEG with burst suppression EEG met burst-supressie CANDIDATE -en nl HP:0010851 IAO:0000115 The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes NOT_TRANSLATED -en nl HP:0010852 rdfs:label EEG with photoparoxysmal response EEG met fotoparoxysmale respons CANDIDATE -en nl HP:0010852 IAO:0000115 EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns NOT_TRANSLATED -en nl HP:0010853 rdfs:label EEG with periodic lateralized epileptiform discharges EEG met periodieke gelateraliseerde epileptiforme ontladingen CANDIDATE -en nl HP:0010853 IAO:0000115 Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds) Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds) NOT_TRANSLATED -en nl HP:0010854 rdfs:label EEG with generalized low amplitude activity EEG met gegeneraliseerde lage amplitude activiteit CANDIDATE -en nl HP:0010854 IAO:0000115 An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010855 rdfs:label EEG with localized low amplitude activity EEG met gelokaliseerde lage amplitude activiteit CANDIDATE -en nl HP:0010855 IAO:0000115 An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010856 rdfs:label EEG with periodic complexes EEG met periodieke complexen CANDIDATE -en nl HP:0010856 IAO:0000115 Periodically occurring generalized periodic complexes Periodically occurring generalized periodic complexes NOT_TRANSLATED -en nl HP:0010857 rdfs:label EEG with periodic abnormalities EEG met periodieke afwijkingen CANDIDATE -en nl HP:0010857 IAO:0000115 Periodically recurring abnormalities in the EEG Periodically recurring abnormalities in the EEG NOT_TRANSLATED -en nl HP:0010858 rdfs:label EEG with hyperventilation-induced epileptiform discharges EEG met hyperventilatie-geïnduceerde epileptiforme ontladingen CANDIDATE -en nl HP:0010858 IAO:0000115 Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0010859 rdfs:label Frank breech presentation Onvolkomen stuitligging presentatie CANDIDATE -en nl HP:0010859 IAO:0000115 A kind of breech presentation in which the hips are flexed and the knees are extended A kind of breech presentation in which the hips are flexed and the knees are extended NOT_TRANSLATED -en nl HP:0010860 rdfs:label Complete breech presentation Volledige stuitligging presentatie CANDIDATE -en nl HP:0010860 IAO:0000115 A kind of breech presentation in which the hips are flexed and the knees are flexed A kind of breech presentation in which the hips are flexed and the knees are flexed NOT_TRANSLATED -en nl HP:0010861 rdfs:label Incomplete breech presentation Half onvolkomen stuitligging presentatie CANDIDATE -en nl HP:0010861 IAO:0000115 A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal NOT_TRANSLATED -en nl HP:0010862 rdfs:label Delayed fine motor development Vertraagde fijn motorische ontwikkeling CANDIDATE -en nl HP:0010862 IAO:0000115 A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands NOT_TRANSLATED -en nl HP:0010863 rdfs:label Receptive language delay Receptieve taalachterstand CANDIDATE -en nl HP:0010863 IAO:0000115 A delay in the acquisition of the ability to understand the speech of others A delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED -en nl HP:0010864 rdfs:label Intellectual disability, severe Verstandelijke beperking, ernstig CANDIDATE -en nl HP:0010864 IAO:0000115 Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34 Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34 NOT_TRANSLATED -en nl HP:0010865 rdfs:label Oppositional defiant disorder Oppositioneel-opstandige gedragsstoornis CANDIDATE -en nl HP:0010865 IAO:0000115 An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents NOT_TRANSLATED -en nl HP:0010866 rdfs:label Abdominal wall defect Buikwand defect CANDIDATE -en nl HP:0010866 IAO:0000115 An incomplete closure of the abdominal wall An incomplete closure of the abdominal wall NOT_TRANSLATED -en nl HP:0010867 rdfs:label Dyssynergia Dyssynergie CANDIDATE -en nl HP:0010867 IAO:0000115 A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts NOT_TRANSLATED -en nl HP:0010868 rdfs:label Ocular dyssynergia Oculaire dyssynergie CANDIDATE -en nl HP:0010868 IAO:0000115 A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field NOT_TRANSLATED -en nl HP:0010869 rdfs:label Asynergia Asynergie CANDIDATE -en nl HP:0010869 IAO:0000115 A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed NOT_TRANSLATED -en nl HP:0010871 rdfs:label Sensory ataxia Sensorische ataxie CANDIDATE -en nl HP:0010871 IAO:0000115 Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms NOT_TRANSLATED -en nl HP:0010872 rdfs:label T-wave inversion Inversie van de T-golf CANDIDATE -en nl HP:0010872 IAO:0000115 An inversion of the T-wave (which is normally positive) An inversion of the T-wave (which is normally positive) NOT_TRANSLATED -en nl HP:0010873 rdfs:label Cervical spinal cord atrophy Atrofie van het cervicale ruggenmerg CANDIDATE -en nl HP:0010873 IAO:0000115 Atrophy of the cervical segment of the spinal cord Atrophy of the cervical segment of the spinal cord NOT_TRANSLATED -en nl HP:0010874 rdfs:label Tendon xanthomatosis Pees xanthomatose CANDIDATE -en nl HP:0010874 IAO:0000115 The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows) The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows) NOT_TRANSLATED -en nl HP:0010875 rdfs:label Chaddock reflex Chaddock reflex CANDIDATE -en nl HP:0010875 IAO:0000115 A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract NOT_TRANSLATED -en nl HP:0010876 rdfs:label Abnormal circulating protein concentration Afwijking van circulerend eiwit niveau CANDIDATE -en nl HP:0010876 IAO:0000115 An abnormal level of a circulating protein in the blood An abnormal level of a circulating protein in the blood NOT_TRANSLATED -en nl HP:0010877 rdfs:label Monocular strabismus Unilateraal strabismus CANDIDATE -en nl HP:0010877 IAO:0000115 A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times NOT_TRANSLATED -en nl HP:0010878 rdfs:label Fetal cystic hygroma Foetaal cysteus hygroom CANDIDATE -en nl HP:0010878 IAO:0000115 The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas NOT_TRANSLATED -en nl HP:0010879 rdfs:label Postnatal cystic hygroma Postnataal cysteus hygroom CANDIDATE -en nl HP:0010880 rdfs:label Increased nuchal translucency Verhoogde nuchale translucentie CANDIDATE -en nl HP:0010880 IAO:0000115 Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy) Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy) NOT_TRANSLATED -en nl HP:0010881 rdfs:label Abnormality of the umbilical cord Afwijking van de navelstreng CANDIDATE -en nl HP:0010881 IAO:0000115 An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta NOT_TRANSLATED -en nl HP:0010882 rdfs:label Pulmonary valve atresia Pulmonaalklep atresie CANDIDATE -en nl HP:0010882 IAO:0000115 A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop NOT_TRANSLATED -en nl HP:0010883 rdfs:label Aortic valve atresia Aortaklep atresie CANDIDATE -en nl HP:0010883 IAO:0000115 A congenital disorder of the aortic valve in which the orifice of the valve fails to develop A congenital disorder of the aortic valve in which the orifice of the valve fails to develop NOT_TRANSLATED -en nl HP:0010884 rdfs:label Acromelia Acromelie CANDIDATE -en nl HP:0010884 IAO:0000115 Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs NOT_TRANSLATED -en nl HP:0010885 rdfs:label Avascular necrosis Aseptische necrose CANDIDATE -en nl HP:0010885 IAO:0000115 A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply NOT_TRANSLATED -en nl HP:0010886 rdfs:label Osteochondritis dissecans Osteochondritis Dissecans CANDIDATE -en nl HP:0010886 IAO:0000115 A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage NOT_TRANSLATED -en nl HP:0010888 rdfs:label Morbus Koehler Morbus Köhler CANDIDATE -en nl HP:0010888 IAO:0000115 Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis NOT_TRANSLATED -en nl HP:0010889 rdfs:label Morbus Kienboeck Morbus Kienbock CANDIDATE -en nl HP:0010889 IAO:0000115 Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum NOT_TRANSLATED -en nl HP:0010890 rdfs:label Morbus Osgood-Schlatter Morbus Osgood-Schlatter CANDIDATE -en nl HP:0010890 IAO:0000115 Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae NOT_TRANSLATED -en nl HP:0010891 rdfs:label Morbus Scheuermann Morbus Scheuermann CANDIDATE -en nl HP:0010891 IAO:0000115 A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays) A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays) NOT_TRANSLATED -en nl HP:0010892 rdfs:label Abnormal circulating branched chain amino acid concentration Afwijking van vertakte keten aminozuur familie metabolisme CANDIDATE -en nl HP:0010892 IAO:0000115 Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation NOT_TRANSLATED -en nl HP:0010893 rdfs:label Abnormal circulating phenylalanine concentration Afwijking van fenylalanine metabolisme CANDIDATE -en nl HP:0010893 IAO:0000115 Any deviation from the normal concentration of phenylalanine in the blood circulation Any deviation from the normal concentration of phenylalanine in the blood circulation NOT_TRANSLATED -en nl HP:0010894 rdfs:label Abnormal circulating serine family amino acid concentration Afwijking van serine familie aminozuur metabolisme CANDIDATE -en nl HP:0010894 IAO:0000115 Any deviation from the normal concentration of a serine family amino acid in the blood circulation Any deviation from the normal concentration of a serine family amino acid in the blood circulation NOT_TRANSLATED -en nl HP:0010895 rdfs:label Abnormal circulating glycine concentration Afwijking van glycine metabolisme CANDIDATE -en nl HP:0010895 IAO:0000115 Any deviation from the normal concentration of glycine in the blood circulation Any deviation from the normal concentration of glycine in the blood circulation NOT_TRANSLATED -en nl HP:0010896 rdfs:label Hypersarcosinemia Hypersarcosinemie CANDIDATE -en nl HP:0010896 IAO:0000115 An elevated plasma concentration of sarcosine An elevated plasma concentration of sarcosine NOT_TRANSLATED -en nl HP:0010897 rdfs:label Hypersarcosinuria Hypersarcosinurie CANDIDATE -en nl HP:0010897 IAO:0000115 An elevated urinary concentration of sarcosine An elevated urinary concentration of sarcosine NOT_TRANSLATED -en nl HP:0010898 rdfs:label Abnormal circulating sarcosine concentration Afwijking van sarcosine metabolisme CANDIDATE -en nl HP:0010898 IAO:0000115 An deviation from the normal concentration of sarcosine in the blood circulation An deviation from the normal concentration of sarcosine in the blood circulation NOT_TRANSLATED -en nl HP:0010899 rdfs:label Abnormal circulating aspartate family amino acid concentration Afwijking van aspartaat familie aminozuur metabolisme CANDIDATE -en nl HP:0010899 IAO:0000115 Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation NOT_TRANSLATED -en nl HP:0010900 rdfs:label Abnormal circulating threonine concentration Afwijking van threonine metabolisme CANDIDATE -en nl HP:0010900 IAO:0000115 Any deviation from the normal concentration of threonine in the blood circulation Any deviation from the normal concentration of threonine in the blood circulation NOT_TRANSLATED -en nl HP:0010901 rdfs:label Abnormal circulating methionine concentration Afwijking van methionine metabolisme CANDIDATE -en nl HP:0010901 IAO:0000115 Any deviation from the normal concentration of methionine in the blood circulation Any deviation from the normal concentration of methionine in the blood circulation NOT_TRANSLATED -en nl HP:0010902 rdfs:label Abnormal circulating glutamine family amino acid concentration Afwijking van glutamine aminozuur familie metabolisme CANDIDATE -en nl HP:0010902 IAO:0000115 Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation NOT_TRANSLATED -en nl HP:0010903 rdfs:label Abnormal circulating glutamine concentration Afwijking van glutamine metabolisme CANDIDATE -en nl HP:0010903 IAO:0000115 Any deviation from the normal concentration of glutamine in the blood circulation Any deviation from the normal concentration of glutamine in the blood circulation NOT_TRANSLATED -en nl HP:0010904 rdfs:label Abnormal circulating histidine concentration Afwijking van histidine metabolisme CANDIDATE -en nl HP:0010904 IAO:0000115 An abnormality of a histidine metabolic process An abnormality of a histidine metabolic process NOT_TRANSLATED -en nl HP:0010906 rdfs:label Hyperhistidinemia Hyperhistidinemie CANDIDATE -en nl HP:0010906 IAO:0000115 An increased concentration of histidine in the blood An increased concentration of histidine in the blood NOT_TRANSLATED -en nl HP:0010907 rdfs:label Abnormal circulating proline concentration Afwijking van proline metabolisme CANDIDATE -en nl HP:0010907 IAO:0000115 Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation NOT_TRANSLATED -en nl HP:0010908 rdfs:label Abnormal circulating lysine concentration Afwijking van lysine metabolisme CANDIDATE -en nl HP:0010908 IAO:0000115 Any deviation from the normal concentration of lysine in the blood circulation Any deviation from the normal concentration of lysine in the blood circulation NOT_TRANSLATED -en nl HP:0010909 rdfs:label Abnormal circulating arginine concentration Afwijking van arginine metabolisme CANDIDATE -en nl HP:0010909 IAO:0000115 Any deviation from the normal concentration of arginine in the blood circulation Any deviation from the normal concentration of arginine in the blood circulation NOT_TRANSLATED -en nl HP:0010910 rdfs:label Hypervalinemia Hypervalinemie CANDIDATE -en nl HP:0010910 IAO:0000115 An increased concentration of valine in the blood An increased concentration of valine in the blood NOT_TRANSLATED -en nl HP:0010911 rdfs:label Hyperleucinemia Hyperleucinemie CANDIDATE -en nl HP:0010911 IAO:0000115 An increased concentration of leucine in the blood An increased concentration of leucine in the blood NOT_TRANSLATED -en nl HP:0010912 rdfs:label Abnormal circulating isoleucine concentration Afwijking van isoleucine metabolisme CANDIDATE -en nl HP:0010912 IAO:0000115 Any deviation from the normal concentration of isoleucine in the blood circulation Any deviation from the normal concentration of isoleucine in the blood circulation NOT_TRANSLATED -en nl HP:0010913 rdfs:label Hyperisoleucinemia Hyperisoleucinemie CANDIDATE -en nl HP:0010913 IAO:0000115 An increased concentration of isoleucine in the blood An increased concentration of isoleucine in the blood NOT_TRANSLATED -en nl HP:0010914 rdfs:label Abnormal circulating valine concentration Afwijking van valine metabolisme CANDIDATE -en nl HP:0010914 IAO:0000115 Any deviation from the normal circulation of valine in the blood circulation Any deviation from the normal circulation of valine in the blood circulation NOT_TRANSLATED -en nl HP:0010915 rdfs:label Abnormal circulating pyruvate family amino acid concentration Afwijking van pyruvaat aminozuur familie metabolisme CANDIDATE -en nl HP:0010915 IAO:0000115 An abnormality of a pyruvate family amino acid metabolic process An abnormality of a pyruvate family amino acid metabolic process NOT_TRANSLATED -en nl HP:0010916 rdfs:label Abnormal circulating alanine concentration Afwijking van alanine metabolisme CANDIDATE -en nl HP:0010916 IAO:0000115 An abnormality of an alanine metabolic process An abnormality of an alanine metabolic process NOT_TRANSLATED -en nl HP:0010917 rdfs:label Abnormal circulating tyrosine concentration Afwijking van het metabolisme van tyrosine CANDIDATE -en nl HP:0010917 IAO:0000115 Any deviation from the normal concentration of tyrosine in the blood circulation Any deviation from the normal concentration of tyrosine in the blood circulation NOT_TRANSLATED -en nl HP:0010918 rdfs:label Abnormal circulating cysteine concentration Afwijking van cysteïne metabolisme CANDIDATE -en nl HP:0010918 IAO:0000115 An abnormality of a cysteine metabolic process An abnormality of a cysteine metabolic process NOT_TRANSLATED -en nl HP:0010919 rdfs:label Abnormal circulating homocysteine concentration Afwijking van het metabolisme van homocysteïne CANDIDATE -en nl HP:0010919 IAO:0000115 An abnormality of a homocysteine metabolic process An abnormality of a homocysteine metabolic process NOT_TRANSLATED -en nl HP:0010920 rdfs:label Zonular cataract Zonulair cataract CANDIDATE -en nl HP:0010920 IAO:0000115 Zonular cataracts are defined to be cataracts that affect specific regions of the lens Zonular cataracts are defined to be cataracts that affect specific regions of the lens NOT_TRANSLATED -en nl HP:0010921 rdfs:label Coralliform cataract Coralliform cataract CANDIDATE -en nl HP:0010921 IAO:0000115 A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form NOT_TRANSLATED -en nl HP:0010922 rdfs:label Membranous cataract Membraneuze cataract CANDIDATE -en nl HP:0010922 IAO:0000115 A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens NOT_TRANSLATED -en nl HP:0010923 rdfs:label Anterior subcapsular cataract Anterieur subcapsulair cataract CANDIDATE -en nl HP:0010923 IAO:0000115 A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule NOT_TRANSLATED -en nl HP:0010924 rdfs:label Posterior cortical cataract Posterieur corticaal cataract CANDIDATE -en nl HP:0010924 IAO:0000115 A cataract that affects the posterior part of the cortex of the lens A cataract that affects the posterior part of the cortex of the lens NOT_TRANSLATED -en nl HP:0010925 rdfs:label Nuclear punctate cataract Nuclear punctate cataract NOT_TRANSLATED -en nl HP:0010926 rdfs:label Aculeiform cataract Aculeiform cataract CANDIDATE -en nl HP:0010926 IAO:0000115 A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens NOT_TRANSLATED -en nl HP:0010927 rdfs:label Abnormal blood inorganic cation concentration Afwijking van divalente anorganische kation homeostase CANDIDATE -en nl HP:0010927 IAO:0000115 An abnormality of divalent inorganic cation homeostasis An abnormality of divalent inorganic cation homeostasis NOT_TRANSLATED -en nl HP:0010929 rdfs:label Abnormal blood cation concentration Afwijking van kation homeostase CANDIDATE -en nl HP:0010929 IAO:0000115 An abnormality of cation homeostasis An abnormality of cation homeostasis NOT_TRANSLATED -en nl HP:0010930 rdfs:label Abnormal blood monovalent inorganic cation concentration Afwijking van monovalente anorganische kation homeostase CANDIDATE -en nl HP:0010930 IAO:0000115 An abnormality of monovalent inorganic cation homeostasis An abnormality of monovalent inorganic cation homeostasis NOT_TRANSLATED -en nl HP:0010931 rdfs:label Abnormal blood sodium concentration Afwijking van natrium homeostase CANDIDATE -en nl HP:0010931 IAO:0000115 An abnormal concentration of sodium An abnormal concentration of sodium NOT_TRANSLATED -en nl HP:0010932 rdfs:label Abnormal circulating nucleobase concentration Afwijking van het nucleobase metabolisme CANDIDATE -en nl HP:0010932 IAO:0000115 An abnormality of a nucleobase metabolic process An abnormality of a nucleobase metabolic process NOT_TRANSLATED -en nl HP:0010933 rdfs:label Hyperxanthinemia Afwijking van xanthine metabolisme CANDIDATE -en nl HP:0010933 IAO:0000115 An increased level of xanthine in the blood circulation An increased level of xanthine in the blood circulation NOT_TRANSLATED -en nl HP:0010934 rdfs:label Xanthinuria Xanthinurie CANDIDATE -en nl HP:0010934 IAO:0000115 An increased concentration of xanthine in the urine An increased concentration of xanthine in the urine NOT_TRANSLATED -en nl HP:0010935 rdfs:label Abnormality of the upper urinary tract Afwijking van de hogere urinewegen CANDIDATE -en nl HP:0010935 IAO:0000115 An abnormality of the upper urinary tract An abnormality of the upper urinary tract NOT_TRANSLATED -en nl HP:0010936 rdfs:label Abnormality of the lower urinary tract Afwijking van de lagere urinewegen CANDIDATE -en nl HP:0010936 IAO:0000115 An abnormality of the lower urinary tract An abnormality of the lower urinary tract NOT_TRANSLATED -en nl HP:0010937 rdfs:label Abnormal nasal skeleton morphology Afwijking van nasale skelet CANDIDATE -en nl HP:0010937 IAO:0000115 An abnormality of the nasal skeleton An abnormality of the nasal skeleton NOT_TRANSLATED -en nl HP:0010938 rdfs:label Abnormal external nose morphology Afwijking van de externe neus CANDIDATE -en nl HP:0010938 IAO:0000115 An abnormality of the external nose An abnormality of the external nose NOT_TRANSLATED -en nl HP:0010939 rdfs:label Abnormal nasal bone morphology Afwijking van het nasale bot CANDIDATE -en nl HP:0010939 IAO:0000115 An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone NOT_TRANSLATED -en nl HP:0010940 rdfs:label Aplasia/Hypoplasia of the nasal bone Aplasia/Hypoplasie van de nasale botten CANDIDATE -en nl HP:0010940 IAO:0000115 Absence or underdevelopment of the nasal bone Absence or underdevelopment of the nasal bone NOT_TRANSLATED -en nl HP:0010941 rdfs:label Aplasia of the nasal bone Aplasie van het nasale bot CANDIDATE -en nl HP:0010941 IAO:0000115 Absence of the nasal bone Absence of the nasal bone NOT_TRANSLATED -en nl HP:0010942 rdfs:label Echogenic intracardiac focus Echodens intracardiaal focus CANDIDATE -en nl HP:0010942 IAO:0000115 A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart NOT_TRANSLATED -en nl HP:0010943 rdfs:label Echogenic fetal bowel Echodense foetale darmen CANDIDATE -en nl HP:0010943 IAO:0000115 Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone NOT_TRANSLATED -en nl HP:0010944 rdfs:label Abnormal renal pelvis morphology Afwijking van het nierbekken CANDIDATE -en nl HP:0010944 IAO:0000115 An abnormality of the renal pelvis An abnormality of the renal pelvis NOT_TRANSLATED -en nl HP:0010945 rdfs:label Fetal pyelectasis Foetale pyelectase CANDIDATE -en nl HP:0010945 IAO:0000115 Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement NOT_TRANSLATED -en nl HP:0010946 rdfs:label Dilatation of the renal pelvis Dilatatie van het nierbekken CANDIDATE -en nl HP:0010946 IAO:0000115 The presence of dilatation of the renal pelvis The presence of dilatation of the renal pelvis NOT_TRANSLATED -en nl HP:0010947 rdfs:label Abnormality of ductus venosus blood flow Afwijking van ductus venosus doorbloeding CANDIDATE -en nl HP:0010947 IAO:0000115 A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus NOT_TRANSLATED -en nl HP:0010948 rdfs:label Abnormal fetal cardiovascular morphology Afwijking van het foetale cardiovasculaire systeem CANDIDATE -en nl HP:0010948 IAO:0000115 A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0010949 rdfs:label Abnormality of umbilical vein blood flow Afwijking van vena umbilicalis doorbloeding CANDIDATE -en nl HP:0010949 IAO:0000115 A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein NOT_TRANSLATED -en nl HP:0010950 rdfs:label Abnormal fourth ventricle morphology Afwijking van het vierde ventrikel CANDIDATE -en nl HP:0010950 IAO:0000115 An abnormality of the fourth ventricle An abnormality of the fourth ventricle NOT_TRANSLATED -en nl HP:0010951 rdfs:label Abnormal third ventricle morphology Afwijking van het derde ventrikel CANDIDATE -en nl HP:0010951 IAO:0000115 An abnormality of the third ventricle An abnormality of the third ventricle NOT_TRANSLATED -en nl HP:0010952 rdfs:label Mild fetal ventriculomegaly Milde foetale ventriculomegalie CANDIDATE -en nl HP:0010952 IAO:0000115 A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637) A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637) NOT_TRANSLATED -en nl HP:0010953 rdfs:label Noncommunicating hydrocephalus Niet-communicerende hydrocefalie CANDIDATE -en nl HP:0010953 IAO:0000115 A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed NOT_TRANSLATED -en nl HP:0010954 rdfs:label Hypoplastic right heart Hypoplastisch rechterhart CANDIDATE -en nl HP:0010954 IAO:0000115 Underdevelopment of the right-sided structures of the heart Underdevelopment of the right-sided structures of the heart NOT_TRANSLATED -en nl HP:0010955 rdfs:label Dilatation of the bladder Dilatatie van de blaas CANDIDATE -en nl HP:0010955 IAO:0000115 The presence of a dilated urinary bladder The presence of a dilated urinary bladder NOT_TRANSLATED -en nl HP:0010956 rdfs:label Fetal megacystis Foetale megacystis CANDIDATE -en nl HP:0010956 IAO:0000115 Fetal megacystis is an abnormally enlarged bladder identified at any gestational age Fetal megacystis is an abnormally enlarged bladder identified at any gestational age NOT_TRANSLATED -en nl HP:0010957 rdfs:label Congenital posterior urethral valve Congenitale urethraklep CANDIDATE -en nl HP:0010957 IAO:0000115 A developmental defect resulting in an obstructing membrane in the posterior male urethra A developmental defect resulting in an obstructing membrane in the posterior male urethra NOT_TRANSLATED -en nl HP:0010958 rdfs:label Bilateral renal agenesis Bilaterale nieragenesie CANDIDATE -en nl HP:0010958 IAO:0000115 A bilateral form of agenesis of the kidney A bilateral form of agenesis of the kidney NOT_TRANSLATED -en nl HP:0010959 rdfs:label Congenital pulmonary airway malformation Congenitale cysteuze adenomatoïde malformatie van de long CANDIDATE -en nl HP:0010959 IAO:0000115 Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles NOT_TRANSLATED -en nl HP:0010960 rdfs:label Bronchopulmonary sequestration Bronchopulmonale sequestratie CANDIDATE -en nl HP:0010960 IAO:0000115 The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree NOT_TRANSLATED -en nl HP:0010961 rdfs:label Intralobar sequestration Intralobaire sequestratie CANDIDATE -en nl HP:0010961 IAO:0000115 A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung NOT_TRANSLATED -en nl HP:0010962 rdfs:label Extralobar sequestration Extralobaire sequestratie CANDIDATE -en nl HP:0010962 IAO:0000115 A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura NOT_TRANSLATED -en nl HP:0010963 rdfs:label Absence of stomach bubble on fetal sonography Afwezig maagbubbel op foetale echografie CANDIDATE -en nl HP:0010963 IAO:0000115 By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation NOT_TRANSLATED -en nl HP:0010964 rdfs:label Abnormal circulating long-chain fatty-acid concentration Afwijking van lange-keten vetzuur metabolisme CANDIDATE -en nl HP:0010964 IAO:0000115 Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation NOT_TRANSLATED -en nl HP:0010965 rdfs:label Abnormal circulating phytanic acid concentration Afwijking van fytaanzuur metabolisme CANDIDATE -en nl HP:0010965 IAO:0000115 Any deviation from the normal concentration of phytanic acid in the blood circulation Any deviation from the normal concentration of phytanic acid in the blood circulation NOT_TRANSLATED -en nl HP:0010966 rdfs:label Abnormal circulating fatty-acid anion concentration Afwijking van vetzuuranion metabolisme CANDIDATE -en nl HP:0010966 IAO:0000115 Any deviation from the normal concentration of a fatty acid anion in the blood circulation Any deviation from the normal concentration of a fatty acid anion in the blood circulation NOT_TRANSLATED -en nl HP:0010967 rdfs:label Abnormal circulating carnitine concentration Afwijking van carnitine metabolisme CANDIDATE -en nl HP:0010967 IAO:0000115 Any deviation from the normal concentration of carnitine in the blood circulation Any deviation from the normal concentration of carnitine in the blood circulation NOT_TRANSLATED -en nl HP:0010968 rdfs:label Abnormality of liposaccharide metabolism Afwijking van liposaccharide metabolisme CANDIDATE -en nl HP:0010968 IAO:0000115 An abnormality of liposaccharide metabolism An abnormality of liposaccharide metabolism NOT_TRANSLATED -en nl HP:0010969 rdfs:label Abnormality of glycolipid metabolism Afwijking van glycolipide metabolisme CANDIDATE -en nl HP:0010969 IAO:0000115 An abnormality of glycolipid metabolism An abnormality of glycolipid metabolism NOT_TRANSLATED -en nl HP:0010970 rdfs:label Blood group antigen abnormality Bloed groep antigeen afwijking CANDIDATE -en nl HP:0010970 IAO:0000115 An abnormality of an erythrocyte cell surface molecule An abnormality of an erythrocyte cell surface molecule NOT_TRANSLATED -en nl HP:0010971 rdfs:label Absence of Lutheran antigen on erythrocytes Afwezig Lutheran antigeen op erytrocyten CANDIDATE -en nl HP:0010971 IAO:0000115 Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells NOT_TRANSLATED -en nl HP:0010972 rdfs:label Anemia of inadequate production Anemie van inadequate productie CANDIDATE -en nl HP:0010972 IAO:0000115 A kind of anemia characterized by inadequate production of erythrocytes A kind of anemia characterized by inadequate production of erythrocytes NOT_TRANSLATED -en nl HP:0010974 rdfs:label Abnormal myeloid leukocyte morphology Afwijking van myeloïde leukocyten CANDIDATE -en nl HP:0010974 IAO:0000115 An abnormality of myeloid leukocytes An abnormality of myeloid leukocytes NOT_TRANSLATED -en nl HP:0010975 rdfs:label Abnormal B cell count Afwijkend aantal B-cellen CANDIDATE -en nl HP:0010975 IAO:0000115 A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells NOT_TRANSLATED -en nl HP:0010976 rdfs:label B lymphocytopenia B lymfocytopenie CANDIDATE -en nl HP:0010976 IAO:0000115 An abnormal decrease from the normal count of B cells An abnormal decrease from the normal count of B cells NOT_TRANSLATED -en nl HP:0010977 rdfs:label Abnormal phagocytosis Afwijking van de fagocyten CANDIDATE -en nl HP:0010977 IAO:0000115 An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation NOT_TRANSLATED -en nl HP:0010978 rdfs:label Abnormality of immune system physiology Afwijking van immuunsysteem fysiologie CANDIDATE -en nl HP:0010978 IAO:0000115 A functional abnormality of the immune system A functional abnormality of the immune system NOT_TRANSLATED -en nl HP:0010979 rdfs:label Abnormality of lipoprotein cholesterol concentration Afwijking van niveau van lipoproteïne cholesterol CANDIDATE -en nl HP:0010979 IAO:0000115 An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0010980 rdfs:label Hyperlipoproteinemia Hyperlipoproteinemie CANDIDATE -en nl HP:0010980 IAO:0000115 An abnormal increase in the level of lipoprotein cholesterol in the blood An abnormal increase in the level of lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0010981 rdfs:label Hypolipoproteinemia Hypolipoproteinemie CANDIDATE -en nl HP:0010981 IAO:0000115 An abnormal decrease in the level of lipoprotein cholesterol in the blood An abnormal decrease in the level of lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0010982 rdfs:label Polygenic inheritance Polygenetische overerving CANDIDATE -en nl HP:0010982 IAO:0000115 A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci NOT_TRANSLATED -en nl HP:0010983 rdfs:label Oligogenic inheritance Oligogenetische overerving CANDIDATE -en nl HP:0010983 IAO:0000115 A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform NOT_TRANSLATED -en nl HP:0010984 rdfs:label Digenic inheritance Digenetische overerving CANDIDATE -en nl HP:0010984 IAO:0000115 A type of multifactorial inheritance governed by the simultaneous action of two gene loci A type of multifactorial inheritance governed by the simultaneous action of two gene loci NOT_TRANSLATED -en nl HP:0010987 rdfs:label Abnormal cellular immune system morphology Afwijking van het cellulaire immuunsysteem CANDIDATE -en nl HP:0010987 IAO:0000115 An abnormality of the morphology or counts of the cells that make up the immune system An abnormality of the morphology or counts of the cells that make up the immune system NOT_TRANSLATED -en nl HP:0010988 rdfs:label Abnormality of the extrinsic pathway Afwijking in de extrinsieke pathway CANDIDATE -en nl HP:0010988 IAO:0000115 An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade NOT_TRANSLATED -en nl HP:0010989 rdfs:label Abnormality of the intrinsic pathway Afwijking in de intrinsieke pathway CANDIDATE -en nl HP:0010989 IAO:0000115 An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade NOT_TRANSLATED -en nl HP:0010990 rdfs:label Abnormality of the common coagulation pathway Afwijking van de gemeenschappelijke stollingsroute CANDIDATE -en nl HP:0010990 IAO:0000115 An abnormality of blood coagulation, common pathway An abnormality of blood coagulation, common pathway NOT_TRANSLATED -en nl HP:0010991 rdfs:label Abnormal morphology of the abdominal musculature Afwijking van de abdominale musculatuur CANDIDATE -en nl HP:0010991 IAO:0000115 An abnormality of the abdominal musculature An abnormality of the abdominal musculature NOT_TRANSLATED -en nl HP:0010992 rdfs:label Stress urinary incontinence Stressincontinentie CANDIDATE -en nl HP:0010992 IAO:0000115 Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing NOT_TRANSLATED -en nl HP:0010993 rdfs:label Abnormal cerebral subcortex morphology Afwijking van de cerebrale subcortex CANDIDATE -en nl HP:0010993 IAO:0000115 An abnormality of the cerebral subcortex An abnormality of the cerebral subcortex NOT_TRANSLATED -en nl HP:0010994 rdfs:label Abnormal corpus striatum morphology Afwijking van het striatum CANDIDATE -en nl HP:0010994 IAO:0000115 Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens NOT_TRANSLATED -en nl HP:0010995 rdfs:label Abnormal circulating dicarboxylic acid concentration Afwijking van dicarboxylic zuur metabolisme CANDIDATE -en nl HP:0010995 IAO:0000115 Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation NOT_TRANSLATED -en nl HP:0010996 rdfs:label Abnormal circulating monocarboxylic acid concentration Afwijking van monocarboxylic zuur metabolisme CANDIDATE -en nl HP:0010996 IAO:0000115 Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation NOT_TRANSLATED -en nl HP:0010997 rdfs:label Chromosomal breakage induced by ionizing radiation Chromosomen breuk geïndiceerd door ioniserende straling CANDIDATE -en nl HP:0010997 IAO:0000115 Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation NOT_TRANSLATED -en nl HP:0010998 rdfs:label Increased susceptibility to spontaneous sister chromatid exchange Verhoogde gevoeligheid spontane zuster chromatide uitwisseling CANDIDATE -en nl HP:0010998 IAO:0000115 An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells NOT_TRANSLATED -en nl HP:0010999 rdfs:label Aplasia of the optic tract Aplasie van de tractus opticus CANDIDATE -en nl HP:0011000 rdfs:label Aplasia/Hypoplasia of the optic tract Aplasia/Hypoplasie van de tractus opticus CANDIDATE -en nl HP:0011001 rdfs:label Increased bone mineral density Toegenomen botdichtheid CANDIDATE -en nl HP:0011001 IAO:0000115 An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones NOT_TRANSLATED -en nl HP:0011002 rdfs:label Osteopetrosis Osteopetrose CANDIDATE -en nl HP:0011002 IAO:0000115 Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal NOT_TRANSLATED -en nl HP:0011003 rdfs:label High myopia Hoge myopie CANDIDATE -en nl HP:0011003 IAO:0000115 A severe form of myopia with greater than -6.00 diopters A severe form of myopia with greater than -6.00 diopters NOT_TRANSLATED -en nl HP:0011004 rdfs:label Abnormal systemic arterial morphology Abnormale systemische arteriële morfologie CANDIDATE -en nl HP:0011004 IAO:0000115 An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries NOT_TRANSLATED -en nl HP:0011005 rdfs:label Mixed cirrhosis Gemengde cirrose CANDIDATE -en nl HP:0011005 IAO:0000115 A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes NOT_TRANSLATED -en nl HP:0011006 rdfs:label Abnormal morphology of the musculature of the neck Afwijking van de spieren van de nek CANDIDATE -en nl HP:0011006 IAO:0000115 An abnormality of the neck musculature An abnormality of the neck musculature NOT_TRANSLATED -en nl HP:0011008 rdfs:label Temporal pattern Temporaal patroon CANDIDATE -en nl HP:0011008 IAO:0000115 The speed at which disease manifestations appear and develop The speed at which disease manifestations appear and develop NOT_TRANSLATED -en nl HP:0011009 rdfs:label Acute Acuut CANDIDATE -en nl HP:0011009 IAO:0000115 Sudden appearance of disease manifestations over a short period of time Sudden appearance of disease manifestations over a short period of time NOT_TRANSLATED -en nl HP:0011010 rdfs:label Chronic Chronisch CANDIDATE -en nl HP:0011010 IAO:0000115 Slow, creeping onset, slow progress and long continuance of disease manifestations Slow, creeping onset, slow progress and long continuance of disease manifestations NOT_TRANSLATED -en nl HP:0011011 rdfs:label Subacute Subacuut CANDIDATE -en nl HP:0011011 IAO:0000115 Somewhat rapid onset and change of disease manifestations Somewhat rapid onset and change of disease manifestations NOT_TRANSLATED -en nl HP:0011012 rdfs:label Abnormal circulating polysaccharide concentration Afwijking van polysaccharide metabolisme CANDIDATE -en nl HP:0011012 IAO:0000115 A deviation from the normal concentration of a polysaccharide in the blood circulation A deviation from the normal concentration of a polysaccharide in the blood circulation NOT_TRANSLATED -en nl HP:0011013 rdfs:label Abnormal circulating carbohydrate concentration Afwijking van het koolhydraat metabolisme/homeostase CANDIDATE -en nl HP:0011013 IAO:0000115 A deviation from the normal concentration of a carbohydrate in the blood circulation A deviation from the normal concentration of a carbohydrate in the blood circulation NOT_TRANSLATED -en nl HP:0011014 rdfs:label Abnormal glucose homeostasis Afwijkende glucose homeostase CANDIDATE -en nl HP:0011014 IAO:0000115 Abnormality of glucose homeostasis Abnormality of glucose homeostasis NOT_TRANSLATED -en nl HP:0011015 rdfs:label Abnormal blood glucose concentration Afwijkende bloed glucose concentratie CANDIDATE -en nl HP:0011015 IAO:0000115 An abnormality of the concentration of glucose in the blood An abnormality of the concentration of glucose in the blood NOT_TRANSLATED -en nl HP:0011017 rdfs:label Abnormal cellular physiology Afwijking van cel fysiologie CANDIDATE -en nl HP:0011017 IAO:0000115 An abnormality in a cellular process An abnormality in a cellular process NOT_TRANSLATED -en nl HP:0011018 rdfs:label Abnormality of the cell cycle Afwijking van de cel cyclus CANDIDATE -en nl HP:0011018 IAO:0000115 An abnormality of the cell cycle An abnormality of the cell cycle NOT_TRANSLATED -en nl HP:0011019 rdfs:label Abnormality of chromosome condensation Afwijking van chromosoom condensatie CANDIDATE -en nl HP:0011019 IAO:0000115 An abnormality of chromosome condensation An abnormality of chromosome condensation NOT_TRANSLATED -en nl HP:0011020 rdfs:label Abnormality of mucopolysaccharide metabolism Afwijking van mucopolysaccharide metabolisme CANDIDATE -en nl HP:0011020 IAO:0000115 An abnormality of the metabolism of mucopolysaccharide An abnormality of the metabolism of mucopolysaccharide NOT_TRANSLATED -en nl HP:0011021 rdfs:label Abnormality of circulating enzyme level Afwijking van circulerend enzym niveau CANDIDATE -en nl HP:0011022 rdfs:label Abnormal circulating unsaturated fatty acid concentration Afwijking van onverzadigd vetzuur metabolisme CANDIDATE -en nl HP:0011022 IAO:0000115 A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation NOT_TRANSLATED -en nl HP:0011023 rdfs:label Abnormal circulating prostaglandin circulation Afwijking van prostaglandine metabolisme CANDIDATE -en nl HP:0011023 IAO:0000115 Any deviation from the normal concentration of a prostaglandin in the blood circulation Any deviation from the normal concentration of a prostaglandin in the blood circulation NOT_TRANSLATED -en nl HP:0011024 rdfs:label Abnormality of the gastrointestinal tract Afwijking van het gastro-instestinale stelsel CANDIDATE -en nl HP:0011024 IAO:0000115 An abnormality of the gastrointestinal tract An abnormality of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0011025 rdfs:label Abnormal cardiovascular system physiology Afwijking van fysiologie cardiovasculaire systeem CANDIDATE -en nl HP:0011025 IAO:0000115 Abnormal functionality of the cardiovascular system Abnormal functionality of the cardiovascular system NOT_TRANSLATED -en nl HP:0011026 rdfs:label Aplasia/Hypoplasia of the vagina Aplasia/Hypoplasie van de vagina CANDIDATE -en nl HP:0011026 IAO:0000115 Aplasia or developmental hypoplasia of the vagina Aplasia or developmental hypoplasia of the vagina NOT_TRANSLATED -en nl HP:0011027 rdfs:label Abnormal fallopian tube morphology Afwijking van de tuba uterina CANDIDATE -en nl HP:0011027 IAO:0000115 An abnormality of the fallopian tube An abnormality of the fallopian tube NOT_TRANSLATED -en nl HP:0011028 rdfs:label Abnormality of blood circulation Afwijking van bloed circulatie CANDIDATE -en nl HP:0011028 IAO:0000115 An abnormality of blood circulation An abnormality of blood circulation NOT_TRANSLATED -en nl HP:0011029 rdfs:label Internal hemorrhage Interne bloeding CANDIDATE -en nl HP:0011029 IAO:0000115 The presence of hemorrhage within the body The presence of hemorrhage within the body NOT_TRANSLATED -en nl HP:0011030 rdfs:label Abnormal blood transition element cation concentration Afwijking van overgangselement kation homeostase CANDIDATE -en nl HP:0011030 IAO:0000115 An abnormality of the homeostasis (concentration) of transition element cation An abnormality of the homeostasis (concentration) of transition element cation NOT_TRANSLATED -en nl HP:0011031 rdfs:label Abnormality of iron homeostasis Afwijking van ijzer homeostase CANDIDATE -en nl HP:0011031 IAO:0000115 An abnormality of the homeostasis (concentration) of iron cation An abnormality of the homeostasis (concentration) of iron cation NOT_TRANSLATED -en nl HP:0011032 rdfs:label Abnormality of fluid regulation Afwijking van vloeistofregulatie CANDIDATE -en nl HP:0011032 IAO:0000115 An abnormality of the regulation of body fluids An abnormality of the regulation of body fluids NOT_TRANSLATED -en nl HP:0011033 rdfs:label Impairment of fructose metabolism Stoornis in fructose metabolisme CANDIDATE -en nl HP:0011033 IAO:0000115 An impairment of a fructose metabolic process An impairment of a fructose metabolic process NOT_TRANSLATED -en nl HP:0011034 rdfs:label Amyloidosis Amyloidose CANDIDATE -en nl HP:0011034 IAO:0000115 The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body NOT_TRANSLATED -en nl HP:0011035 rdfs:label Abnormal renal cortex morphology Afwijking van de morfologie van de renale cortex CANDIDATE -en nl HP:0011035 IAO:0000115 An abnormality of the cortex of the kidney An abnormality of the cortex of the kidney NOT_TRANSLATED -en nl HP:0011036 rdfs:label Abnormality of renal excretion Afwijking van de renale excretie CANDIDATE -en nl HP:0011036 IAO:0000115 An altered ability of the kidneys to void urine and/or specific substances An altered ability of the kidneys to void urine and/or specific substances NOT_TRANSLATED -en nl HP:0011037 rdfs:label Decreased urine output Verminderde urineproductie CANDIDATE -en nl HP:0011037 IAO:0000115 A decreased rate of urine production A decreased rate of urine production NOT_TRANSLATED -en nl HP:0011038 rdfs:label Abnormal renal tubular resorption Afwijking van renale resorptie CANDIDATE -en nl HP:0011038 IAO:0000115 An abnormality of renal absorption An abnormality of renal absorption NOT_TRANSLATED -en nl HP:0011039 rdfs:label Abnormal helix morphology Afwijking van de helix CANDIDATE -en nl HP:0011039 IAO:0000115 An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe NOT_TRANSLATED -en nl HP:0011040 rdfs:label Abnormal intrahepatic bile duct morphology Afwijking van de intrahepatische galgang CANDIDATE -en nl HP:0011040 IAO:0000115 An abnormality of the intrahepatic bile duct An abnormality of the intrahepatic bile duct NOT_TRANSLATED -en nl HP:0011041 rdfs:label Aplasia/Hypoplasia of the cervical spine Aplasia/Hypoplasie van de cervicale wervelkolom CANDIDATE -en nl HP:0011041 IAO:0000115 Aplasia or developmental hypoplasia of the cervical vertebral column Aplasia or developmental hypoplasia of the cervical vertebral column NOT_TRANSLATED -en nl HP:0011042 rdfs:label Abnormal blood potassium concentration Afwijking van kalium homeostase CANDIDATE -en nl HP:0011042 IAO:0000115 An abnormal concentration of potassium An abnormal concentration of potassium NOT_TRANSLATED -en nl HP:0011043 rdfs:label Abnormal circulating adrenocorticotropin concentration Afwijking van circulerend corticotropine niveau CANDIDATE -en nl HP:0011043 IAO:0000115 An abnormal concentration of corticotropin in the blood An abnormal concentration of corticotropin in the blood NOT_TRANSLATED -en nl HP:0011044 rdfs:label Abnormal number of permanent teeth Abnormaal aantal permanente tanden CANDIDATE -en nl HP:0011044 IAO:0000115 The presence of an altered number of of permanent teeth The presence of an altered number of of permanent teeth NOT_TRANSLATED -en nl HP:0011045 rdfs:label Agenesis of permanent maxillary central incisor Agenesie van permanente maxillaire centrale snijtand CANDIDATE -en nl HP:0011045 IAO:0000115 Agenesis of upper secondary incisor Agenesis of upper secondary incisor NOT_TRANSLATED -en nl HP:0011046 rdfs:label Agenesis of primary maxillary central incisor Agenesie van primaire maxillaire centrale snijtand CANDIDATE -en nl HP:0011046 IAO:0000115 Agenesis of upper central primary incisor Agenesis of upper central primary incisor NOT_TRANSLATED -en nl HP:0011047 rdfs:label Agenesis of primary mandibular central incisor Agenesie van primaire mandibulaire centrale snijtand CANDIDATE -en nl HP:0011047 IAO:0000115 Agenesis of lower primary incisor Agenesis of lower primary incisor NOT_TRANSLATED -en nl HP:0011048 rdfs:label Agenesis of permanent mandibular central incisor Agenesie van permanente mandibulaire centrale snijtand CANDIDATE -en nl HP:0011048 IAO:0000115 Agenesis of lower secondary incisor Agenesis of lower secondary incisor NOT_TRANSLATED -en nl HP:0011049 rdfs:label Agenesis of primary maxillary lateral incisor Agenesie van primaire maxillaire laterale snijtand CANDIDATE -en nl HP:0011049 IAO:0000115 Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor NOT_TRANSLATED -en nl HP:0011050 rdfs:label Agenesis of permanent maxillary lateral incisor Agenesie van permanente maxillaire laterale snijtand CANDIDATE -en nl HP:0011050 IAO:0000115 Agenesis of one or more upper lateral secondary incisor Agenesis of one or more upper lateral secondary incisor NOT_TRANSLATED -en nl HP:0011051 rdfs:label Agenesis of premolar Agenesie van premolaar CANDIDATE -en nl HP:0011051 IAO:0000115 Agenesis of premolar tooth Agenesis of premolar tooth NOT_TRANSLATED -en nl HP:0011052 rdfs:label Agenesis of maxillary premolar Agenesie van maxillaire premolaar CANDIDATE -en nl HP:0011052 IAO:0000115 Agenesis of maxillary premolar Agenesis of maxillary premolar NOT_TRANSLATED -en nl HP:0011053 rdfs:label Agenesis of mandibular premolar Agenesie van mandibulaire premolaar CANDIDATE -en nl HP:0011053 IAO:0000115 Agenesis of mandibular premolar Agenesis of mandibular premolar NOT_TRANSLATED -en nl HP:0011054 rdfs:label Agenesis of molar Agenesie van molaar CANDIDATE -en nl HP:0011054 IAO:0000115 Agenesis of molar tooth Agenesis of molar tooth NOT_TRANSLATED -en nl HP:0011055 rdfs:label Agenesis of permanent molar Agenesie van permanente molaar CANDIDATE -en nl HP:0011055 IAO:0000115 Agenesis of secondary molar tooth Agenesis of secondary molar tooth NOT_TRANSLATED -en nl HP:0011056 rdfs:label Agenesis of first permanent molar tooth Agenesie van eerste permanente molaire tand CANDIDATE -en nl HP:0011056 IAO:0000115 Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both NOT_TRANSLATED -en nl HP:0011057 rdfs:label Agenesis of second permanent molar Agenesie van tweede permanente molaar CANDIDATE -en nl HP:0011057 IAO:0000115 Agenesis of either mandibular second permanent molar or maxillary second permanent molar Agenesis of either mandibular second permanent molar or maxillary second permanent molar NOT_TRANSLATED -en nl HP:0011058 rdfs:label Generalized periodontitis Gegeneraliseerde parodontitis CANDIDATE -en nl HP:0011058 IAO:0000115 A generalized form of periodontitis A generalized form of periodontitis NOT_TRANSLATED -en nl HP:0011059 rdfs:label Localized periodontitis Gelokaliseerde parodontitis CANDIDATE -en nl HP:0011059 IAO:0000115 A localized form of periodontitis A localized form of periodontitis NOT_TRANSLATED -en nl HP:0011060 rdfs:label Dentinogenesis imperfecta limited to primary teeth Dentinogenesis imperfecta beperkt tot primaire tanden CANDIDATE -en nl HP:0011060 IAO:0000115 Developmental dysplasia of dentin affecting only the primary dentition Developmental dysplasia of dentin affecting only the primary dentition NOT_TRANSLATED -en nl HP:0011061 rdfs:label Abnormality of dental structure Afwijking van tandheelkundige structuur CANDIDATE -en nl HP:0011061 IAO:0000115 An abnormality of the structure or composition of the teeth An abnormality of the structure or composition of the teeth NOT_TRANSLATED -en nl HP:0011062 rdfs:label Misalignment of incisors Verkeerde uitlijning van snijtanden CANDIDATE -en nl HP:0011062 IAO:0000115 Misaligned incisor Misaligned incisor NOT_TRANSLATED -en nl HP:0011063 rdfs:label Abnormal incisor morphology Afwijking van snijtand morfologie CANDIDATE -en nl HP:0011063 IAO:0000115 An abnormality of morphology of the incisor tooth An abnormality of morphology of the incisor tooth NOT_TRANSLATED -en nl HP:0011064 rdfs:label Abnormal number of incisors Abnormaal aantal snijtanden CANDIDATE -en nl HP:0011064 IAO:0000115 The presence of an altered number of the incisor teeth The presence of an altered number of the incisor teeth NOT_TRANSLATED -en nl HP:0011065 rdfs:label Conical incisor Conische snijtand CANDIDATE -en nl HP:0011065 IAO:0000115 An abnormal conical morphology of the incisor tooth An abnormal conical morphology of the incisor tooth NOT_TRANSLATED -en nl HP:0011067 rdfs:label Mesiodens Mesiodens CANDIDATE -en nl HP:0011067 IAO:0000115 A supernumerary tooth in the midline between the maxillary central incisors A supernumerary tooth in the midline between the maxillary central incisors NOT_TRANSLATED -en nl HP:0011068 rdfs:label Odontoma Odontoom CANDIDATE -en nl HP:0011068 IAO:0000115 The presence of an odontoma The presence of an odontoma NOT_TRANSLATED -en nl HP:0011069 rdfs:label Supernumerary tooth Verhoogd aantal tanden CANDIDATE -en nl HP:0011069 IAO:0000115 The presence of one or more teeth additional to the normal number The presence of one or more teeth additional to the normal number NOT_TRANSLATED -en nl HP:0011070 rdfs:label Abnormal molar morphology Afwijking van molaire morfologie CANDIDATE -en nl HP:0011070 IAO:0000115 An abnormality of morphology of molar tooth An abnormality of morphology of molar tooth NOT_TRANSLATED -en nl HP:0011071 rdfs:label Abnormality of permanent molar morphology Afwijking van permanente molaire morfologie CANDIDATE -en nl HP:0011071 IAO:0000115 An abnormality of morphology of permanent molar An abnormality of morphology of permanent molar NOT_TRANSLATED -en nl HP:0011072 rdfs:label Rootless teeth Wortelloze tanden CANDIDATE -en nl HP:0011073 rdfs:label Abnormality of dental color Afwijking van tandkleur CANDIDATE -en nl HP:0011073 IAO:0000115 A developmental defect of tooth color A developmental defect of tooth color NOT_TRANSLATED -en nl HP:0011074 rdfs:label Localized hypoplasia of dental enamel Gelokaliseerde hypoplasie van het glazuur van de tand CANDIDATE -en nl HP:0011074 IAO:0000115 A localized form of developmental hypoplasia of the dental enamel A localized form of developmental hypoplasia of the dental enamel NOT_TRANSLATED -en nl HP:0011075 rdfs:label Green teeth Groene tanden CANDIDATE -en nl HP:0011075 IAO:0000115 A green staining of teeth A green staining of teeth NOT_TRANSLATED -en nl HP:0011076 rdfs:label Abnormality of premolar Afwijking van premolaar CANDIDATE -en nl HP:0011076 IAO:0000115 An abnormality of premolar tooth An abnormality of premolar tooth NOT_TRANSLATED -en nl HP:0011077 rdfs:label Abnormality of molar Afwijking van molaar CANDIDATE -en nl HP:0011077 IAO:0000115 An abnormality of molar tooth An abnormality of molar tooth NOT_TRANSLATED -en nl HP:0011078 rdfs:label Abnormality of canine Afwijking van hoektand CANDIDATE -en nl HP:0011078 IAO:0000115 An abnormality of canine tooth An abnormality of canine tooth NOT_TRANSLATED -en nl HP:0011079 rdfs:label Impacted tooth Geïmpacteerde tand CANDIDATE -en nl HP:0011079 IAO:0000115 A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth) A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth) NOT_TRANSLATED -en nl HP:0011080 rdfs:label Abnormal premolar morphology Afwijking van premolaar morfologie CANDIDATE -en nl HP:0011080 IAO:0000115 An abnormality of morphology of premolar tooth An abnormality of morphology of premolar tooth NOT_TRANSLATED -en nl HP:0011081 rdfs:label Incisor macrodontia Macrodontie van snijtand CANDIDATE -en nl HP:0011081 IAO:0000115 Increased size of the incisor tooth Increased size of the incisor tooth NOT_TRANSLATED -en nl HP:0011082 rdfs:label Conical primary incisor Conische primaire snijtand CANDIDATE -en nl HP:0011082 IAO:0000115 An abnormal conical morphology of the primary incisor An abnormal conical morphology of the primary incisor NOT_TRANSLATED -en nl HP:0011083 rdfs:label Conical maxillary incisor Conische maxillaire snijtand CANDIDATE -en nl HP:0011083 IAO:0000115 An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both NOT_TRANSLATED -en nl HP:0011084 rdfs:label Hypocalcification of dental enamel Hypocalcificatie van het glazuur van de tand CANDIDATE -en nl HP:0011084 IAO:0000115 A form of hypomineralization of enamel characterized by reduced calcification A form of hypomineralization of enamel characterized by reduced calcification NOT_TRANSLATED -en nl HP:0011085 rdfs:label Hypomature dental enamel Hypomatuur glazuur van de tand CANDIDATE -en nl HP:0011085 IAO:0000115 A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color NOT_TRANSLATED -en nl HP:0011086 rdfs:label Dentinogenesis imperfecta of primary and permanent teeth Dentinogenesis imperfecta van primaire en permanente tanden CANDIDATE -en nl HP:0011086 IAO:0000115 Developmental dysplasia of dentin or both the primary dentition and the permanent dentition Developmental dysplasia of dentin or both the primary dentition and the permanent dentition NOT_TRANSLATED -en nl HP:0011087 rdfs:label Talon cusp Talon cusp CANDIDATE -en nl HP:0011087 IAO:0000115 Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown) Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown) NOT_TRANSLATED -en nl HP:0011088 rdfs:label Dens in dente Dens invaginatus CANDIDATE -en nl HP:0011088 IAO:0000115 An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth NOT_TRANSLATED -en nl HP:0011089 rdfs:label Double tooth Dubbele tand CANDIDATE -en nl HP:0011089 IAO:0000115 Fusion of two adjacent teeth Fusion of two adjacent teeth NOT_TRANSLATED -en nl HP:0011090 rdfs:label Fused teeth Gefuseerde tanden CANDIDATE -en nl HP:0011090 IAO:0000115 The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch NOT_TRANSLATED -en nl HP:0011091 rdfs:label Gemination Geminatie CANDIDATE -en nl HP:0011091 IAO:0000115 The development of two teeth from a single tooth bud, leading to a larger fused tooth The development of two teeth from a single tooth bud, leading to a larger fused tooth NOT_TRANSLATED -en nl HP:0011092 rdfs:label Mulberry molar Mulberry molaar CANDIDATE -en nl HP:0011092 IAO:0000115 Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry NOT_TRANSLATED -en nl HP:0011093 rdfs:label Molarization of premolar Molarisatie van premolaar CANDIDATE -en nl HP:0011093 IAO:0000115 Increased size and molar morphology of premolar tooth Increased size and molar morphology of premolar tooth NOT_TRANSLATED -en nl HP:0011094 rdfs:label Increased overbite Overbeet CANDIDATE -en nl HP:0011094 IAO:0000115 Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm NOT_TRANSLATED -en nl HP:0011095 rdfs:label Overjet Overjet CANDIDATE -en nl HP:0011095 IAO:0000115 An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure NOT_TRANSLATED -en nl HP:0011096 rdfs:label Peripheral demyelination Perifere demyelinisatie CANDIDATE -en nl HP:0011096 IAO:0000115 A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED -en nl HP:0011097 rdfs:label Epileptic spasm Epileptische spasmen CANDIDATE -en nl HP:0011097 IAO:0000115 A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages NOT_TRANSLATED -en nl HP:0011098 rdfs:label Speech apraxia Spraak apraxie CANDIDATE -en nl HP:0011098 IAO:0000115 A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur NOT_TRANSLATED -en nl HP:0011099 rdfs:label Spastic hemiparesis Spastische hemiparese CANDIDATE -en nl HP:0011099 IAO:0000115 Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes NOT_TRANSLATED -en nl HP:0011100 rdfs:label Intestinal atresia Intestinale atresie CANDIDATE -en nl HP:0011100 IAO:0000115 An abnormal closure, or atresia of the tubular structure of the intestine An abnormal closure, or atresia of the tubular structure of the intestine NOT_TRANSLATED -en nl HP:0011102 rdfs:label Ileal atresia Ileale atresie CANDIDATE -en nl HP:0011102 IAO:0000115 An abnormal closure, or atresia of the tubular structure of the ileum An abnormal closure, or atresia of the tubular structure of the ileum NOT_TRANSLATED -en nl HP:0011103 rdfs:label Abnormal left ventricular outflow tract morphology Abnormal left ventricular outflow tract morphology NOT_TRANSLATED -en nl HP:0011103 IAO:0000115 An abnormality of the outflow tract of the left ventricle An abnormality of the outflow tract of the left ventricle NOT_TRANSLATED -en nl HP:0011104 rdfs:label Abnormality of blood volume homeostasis Afwijking in bloedvolume homeostase CANDIDATE -en nl HP:0011104 IAO:0000115 An abnormality in the amount of volume occupied by intravascular blood An abnormality in the amount of volume occupied by intravascular blood NOT_TRANSLATED -en nl HP:0011105 rdfs:label Hypervolemia Hypervolemie CANDIDATE -en nl HP:0011105 IAO:0000115 An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood NOT_TRANSLATED -en nl HP:0011106 rdfs:label Hypovolemia Hypovolemie CANDIDATE -en nl HP:0011106 IAO:0000115 An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood NOT_TRANSLATED -en nl HP:0011107 rdfs:label Recurrent aphthous stomatitis Recidiverende afteuze stomatitis CANDIDATE -en nl HP:0011107 IAO:0000115 Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border NOT_TRANSLATED -en nl HP:0011108 rdfs:label Recurrent sinusitis Recidiverende sinusitis CANDIDATE -en nl HP:0011108 IAO:0000115 A recurrent form of sinusitis A recurrent form of sinusitis NOT_TRANSLATED -en nl HP:0011109 rdfs:label Chronic sinusitis Chronische sinusitis CANDIDATE -en nl HP:0011109 IAO:0000115 A chronic form of sinusitis A chronic form of sinusitis NOT_TRANSLATED -en nl HP:0011110 rdfs:label Recurrent tonsillitis Tonsillitis CANDIDATE -en nl HP:0011110 IAO:0000115 Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis NOT_TRANSLATED -en nl HP:0011111 rdfs:label Abnormality of immune serum protein physiology Afwijking van immuun serum eiwit fysiologie CANDIDATE -en nl HP:0011111 IAO:0000115 An abnormality of the concentration or function of circulating immune proteins An abnormality of the concentration or function of circulating immune proteins NOT_TRANSLATED -en nl HP:0011112 rdfs:label Abnormality of serum cytokine level Afwijking in serum cytokine niveau CANDIDATE -en nl HP:0011112 IAO:0000115 Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells NOT_TRANSLATED -en nl HP:0011113 rdfs:label Abnormality of cytokine secretion Afwijking van cytokine secretie CANDIDATE -en nl HP:0011113 IAO:0000115 An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells) An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells) NOT_TRANSLATED -en nl HP:0011114 rdfs:label Defective production of NFKB1-dependent cytokines Defecte productie van NFKB1-afhankelijke cytokines CANDIDATE -en nl HP:0011114 IAO:0000115 An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha NOT_TRANSLATED -en nl HP:0011115 rdfs:label Abnormality of chemokine secretion Afwijking van chemokine secretie CANDIDATE -en nl HP:0011115 IAO:0000115 An abnormality in the production or cellular release of a chemokine (a class of cytokines) An abnormality in the production or cellular release of a chemokine (a class of cytokines) NOT_TRANSLATED -en nl HP:0011116 rdfs:label Abnormality of interferon secretion Afwijking van interferon secretie CANDIDATE -en nl HP:0011116 IAO:0000115 An abnormality in the production or cellular release of interferons (a class of cytokines) An abnormality in the production or cellular release of interferons (a class of cytokines) NOT_TRANSLATED -en nl HP:0011117 rdfs:label Abnormality of interleukin secretion Afwijking van interleukine secretie CANDIDATE -en nl HP:0011117 IAO:0000115 An abnormality in the production or cellular release of interleukins (a class of cytokines) An abnormality in the production or cellular release of interleukins (a class of cytokines) NOT_TRANSLATED -en nl HP:0011118 rdfs:label Abnormality of tumor necrosis factor secretion Afwijking van tumor necrose factor secretie CANDIDATE -en nl HP:0011118 IAO:0000115 An abnormality in the production or cellular release of tumor necrosis factor An abnormality in the production or cellular release of tumor necrosis factor NOT_TRANSLATED -en nl HP:0011119 rdfs:label Abnormal nasal dorsum morphology Afwijking van de neusrug CANDIDATE -en nl HP:0011119 IAO:0000115 An abnormality of the nasal dorsum, also known as the nasal ridge An abnormality of the nasal dorsum, also known as the nasal ridge NOT_TRANSLATED -en nl HP:0011120 rdfs:label Concave nasal ridge Concave neusrug CANDIDATE -en nl HP:0011120 IAO:0000115 Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip NOT_TRANSLATED -en nl HP:0011121 rdfs:label Abnormality of skin morphology Afwijking van huid morfologie CANDIDATE -en nl HP:0011121 IAO:0000115 Any morphological abnormality of the skin Any morphological abnormality of the skin NOT_TRANSLATED -en nl HP:0011122 rdfs:label Abnormality of skin physiology Afwijking van huid fysiologie CANDIDATE -en nl HP:0011122 IAO:0000115 Any abnormality of the physiological function of the skin Any abnormality of the physiological function of the skin NOT_TRANSLATED -en nl HP:0011123 rdfs:label Inflammatory abnormality of the skin Infectieuze afwijking van de huid CANDIDATE -en nl HP:0011123 IAO:0000115 The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes NOT_TRANSLATED -en nl HP:0011124 rdfs:label Abnormal epidermal morphology Afwijking van epidermale morfologie CANDIDATE -en nl HP:0011124 IAO:0000115 An abnormality of the morphology of the epidermis An abnormality of the morphology of the epidermis NOT_TRANSLATED -en nl HP:0011125 rdfs:label Abnormality of dermal melanosomes Afwijking van dermale melanosomen CANDIDATE -en nl HP:0011125 IAO:0000115 An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis) An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis) NOT_TRANSLATED -en nl HP:0011126 rdfs:label Nephroptosis Nefroptosis CANDIDATE -en nl HP:0011126 IAO:0000115 A significant descent of the kidney as the patient moves from the supine to the erect position A significant descent of the kidney as the patient moves from the supine to the erect position NOT_TRANSLATED -en nl HP:0011127 rdfs:label Perioral eczema Perioraal eczeem CANDIDATE -en nl HP:0011127 IAO:0000115 A type of eczema that occurs in the lips and perioral area A type of eczema that occurs in the lips and perioral area NOT_TRANSLATED -en nl HP:0011128 rdfs:label Acute esophageal necrosis Acute oesofageale necrose CANDIDATE -en nl HP:0011128 IAO:0000115 A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction NOT_TRANSLATED -en nl HP:0011129 rdfs:label Bilateral fetal pyelectasis Bilaterale foetale pyelectasie CANDIDATE -en nl HP:0011129 IAO:0000115 A bilateral form of fetal pyelectasis A bilateral form of fetal pyelectasis NOT_TRANSLATED -en nl HP:0011130 rdfs:label Abnormal renal calyx morphology Afwijking van renale kelk morfologie CANDIDATE -en nl HP:0011130 IAO:0000115 Any abnormality of the morphology of the major calices or minor calices of the kidney Any abnormality of the morphology of the major calices or minor calices of the kidney NOT_TRANSLATED -en nl HP:0011131 rdfs:label Perianal dermatitis Perianale uitslag CANDIDATE -en nl HP:0011131 IAO:0000115 The presence of a rash (change of color and texture) of the perianal skin The presence of a rash (change of color and texture) of the perianal skin NOT_TRANSLATED -en nl HP:0011132 rdfs:label Chronic furunculosis Chronische furunculose CANDIDATE -en nl HP:0011132 IAO:0000115 A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection NOT_TRANSLATED -en nl HP:0011133 rdfs:label Increased sensitivity to ionizing radiation Verhoogde gevoeligheid voor ioniserende straling CANDIDATE -en nl HP:0011133 IAO:0000115 An abnormally increased sensitivity to the effects of ionizing radiation An abnormally increased sensitivity to the effects of ionizing radiation NOT_TRANSLATED -en nl HP:0011134 rdfs:label Low-grade fever Lichte koorts CANDIDATE -en nl HP:0011134 IAO:0000115 Mild fever that does not exceed 38.5 degrees centigrade Mild fever that does not exceed 38.5 degrees centigrade NOT_TRANSLATED -en nl HP:0011135 rdfs:label Aplasia/Hypoplasia of the sweat glands Aplasia/Hypoplasie van de zweetklieren CANDIDATE -en nl HP:0011135 IAO:0000115 Absence or developmental hypoplasia of the sweat glands Absence or developmental hypoplasia of the sweat glands NOT_TRANSLATED -en nl HP:0011136 rdfs:label Aplasia of the sweat glands Aplasie van de zweetklieren CANDIDATE -en nl HP:0011136 IAO:0000115 Absence of the sweat glands Absence of the sweat glands NOT_TRANSLATED -en nl HP:0011137 rdfs:label Non-pruritic urticaria Niet-pruritische urticaria CANDIDATE -en nl HP:0011137 IAO:0000115 Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus NOT_TRANSLATED -en nl HP:0011138 rdfs:label Abnormality of skin adnexa morphology Afwijking van huidadnexen morfologie CANDIDATE -en nl HP:0011138 IAO:0000115 An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands NOT_TRANSLATED -en nl HP:0011139 rdfs:label Gastric duplication Maag duplicatie CANDIDATE -en nl HP:0011139 IAO:0000115 Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach NOT_TRANSLATED -en nl HP:0011140 rdfs:label Gastrointestinal duplication Gastro-intestinale duplicatie CANDIDATE -en nl HP:0011140 IAO:0000115 A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus NOT_TRANSLATED -en nl HP:0011141 rdfs:label Age-related cataract Leeftijdsgebonden cataract CANDIDATE -en nl HP:0011141 IAO:0000115 A type of cataract (opacification of the lens) that forms during the course of aging A type of cataract (opacification of the lens) that forms during the course of aging NOT_TRANSLATED -en nl HP:0011142 rdfs:label Age-related nuclear cataract Leeftijdsgebonden nucleair cataract CANDIDATE -en nl HP:0011142 IAO:0000115 A type of age-related cataract that primarily affects the nucleus of the lens A type of age-related cataract that primarily affects the nucleus of the lens NOT_TRANSLATED -en nl HP:0011143 rdfs:label Age-related cortical cataract Leeftijdsgebonden corticaal cataract CANDIDATE -en nl HP:0011143 IAO:0000115 A type of age-related cataract that primarily affects the cortex of the lens A type of age-related cataract that primarily affects the cortex of the lens NOT_TRANSLATED -en nl HP:0011144 rdfs:label Age-related posterior subcapsular cataract Leeftijdsgebonden posterieur subcapsulair cataract CANDIDATE -en nl HP:0011144 IAO:0000115 A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule NOT_TRANSLATED -en nl HP:0011145 rdfs:label Symptomatic seizures Symptomatische insulten CANDIDATE -en nl HP:0011145 IAO:0000115 A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed NOT_TRANSLATED -en nl HP:0011146 rdfs:label Dialeptic seizure Dialeptic seizure NOT_TRANSLATED -en nl HP:0011146 IAO:0000115 A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event NOT_TRANSLATED -en nl HP:0011147 rdfs:label Typical absence seizure Typische absence aanvallen CANDIDATE -en nl HP:0011147 IAO:0000115 A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event NOT_TRANSLATED -en nl HP:0011149 rdfs:label Absence seizure with eyelid myoclonia Absence met ooglid myoclonie CANDIDATE -en nl HP:0011149 IAO:0000115 An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure NOT_TRANSLATED -en nl HP:0011150 rdfs:label Myoclonic absence seizure Myoclonische absences CANDIDATE -en nl HP:0011150 IAO:0000115 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 NOT_TRANSLATED -en nl HP:0011151 rdfs:label Atypical absence status epilepticus Obtundatie status CANDIDATE -en nl HP:0011151 IAO:0000115 Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure NOT_TRANSLATED -en nl HP:0011152 rdfs:label Early onset absence seizures Early onset van absence aanvallen CANDIDATE -en nl HP:0011152 IAO:0000115 Typical absence seizures starting before the age of 4 years Typical absence seizures starting before the age of 4 years NOT_TRANSLATED -en nl HP:0011153 rdfs:label Focal motor seizure Focale motorische insulten CANDIDATE -en nl HP:0011153 IAO:0000115 A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation NOT_TRANSLATED -en nl HP:0011154 rdfs:label Focal autonomic seizure Focale autonome insulten CANDIDATE -en nl HP:0011154 IAO:0000115 An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature NOT_TRANSLATED -en nl HP:0011157 rdfs:label Focal sensory seizure Auras CANDIDATE -en nl HP:0011157 IAO:0000115 A focal sensory seizure is a type seizure beginning with a subjective sensation A focal sensory seizure is a type seizure beginning with a subjective sensation NOT_TRANSLATED -en nl HP:0011158 rdfs:label Focal sensory seizure with auditory features Auditieve auras CANDIDATE -en nl HP:0011158 IAO:0000115 A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation NOT_TRANSLATED -en nl HP:0011159 rdfs:label Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena Epigastrische auras CANDIDATE -en nl HP:0011159 IAO:0000115 A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature NOT_TRANSLATED -en nl HP:0011160 rdfs:label Focal sensory seizure with gustatory features Smaak auras CANDIDATE -en nl HP:0011160 IAO:0000115 A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation NOT_TRANSLATED -en nl HP:0011161 rdfs:label Focal sensory seizure with olfactory features Reuk auras CANDIDATE -en nl HP:0011161 IAO:0000115 Seizures characterized by olfactory phenomena as its first clinical manifestation Seizures characterized by olfactory phenomena as its first clinical manifestation NOT_TRANSLATED -en nl HP:0011163 rdfs:label Focal sensory seizure with somatosensory features Somatosensore auras CANDIDATE -en nl HP:0011163 IAO:0000115 A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation NOT_TRANSLATED -en nl HP:0011165 rdfs:label Focal sensory seizure with visual features Visuele auras CANDIDATE -en nl HP:0011165 IAO:0000115 A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation NOT_TRANSLATED -en nl HP:0011166 rdfs:label Focal myoclonic seizure Focale myoclonische aanvallen CANDIDATE -en nl HP:0011166 IAO:0000115 A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED -en nl HP:0011167 rdfs:label Focal tonic seizure Focale tonische aanvallen CANDIDATE -en nl HP:0011167 IAO:0000115 A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes NOT_TRANSLATED -en nl HP:0011168 rdfs:label Focal seizure with eyelid myoclonia Ooglid myoclonieën CANDIDATE -en nl HP:0011168 IAO:0000115 Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures NOT_TRANSLATED -en nl HP:0011169 rdfs:label Generalized clonic seizure Gegeneraliseerde clonische aanvallen CANDIDATE -en nl HP:0011169 IAO:0000115 Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups NOT_TRANSLATED -en nl HP:0011170 rdfs:label Generalized myoclonic-atonic seizure Myoclonische atonische aanvallen CANDIDATE -en nl HP:0011170 IAO:0000115 A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component NOT_TRANSLATED -en nl HP:0011171 rdfs:label Simple febrile seizure Simpele koortstuipen CANDIDATE -en nl HP:0011171 IAO:0000115 A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance NOT_TRANSLATED -en nl HP:0011172 rdfs:label Complex febrile seizure Complexe koortstuipen CANDIDATE -en nl HP:0011172 IAO:0000115 A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period NOT_TRANSLATED -en nl HP:0011173 rdfs:label Focal behavior arrest seizure Hypokinetische aanvallen CANDIDATE -en nl HP:0011173 IAO:0000115 A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure NOT_TRANSLATED -en nl HP:0011174 rdfs:label Focal hyperkinetic seizure Hyperkinetische aanvallen CANDIDATE -en nl HP:0011174 IAO:0000115 A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements NOT_TRANSLATED -en nl HP:0011175 rdfs:label Focal motor seizure with version Versieve aanvallen CANDIDATE -en nl HP:0011175 IAO:0000115 A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0011176 rdfs:label EEG with constitutional variants EEG with constitutional variants NOT_TRANSLATED -en nl HP:0011176 IAO:0000115 An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic NOT_TRANSLATED -en nl HP:0011177 rdfs:label EEG with 4-5/second background activity EEG met 4-5/seconde achtergrondactiviteit CANDIDATE -en nl HP:0011177 IAO:0000115 EEG background activity at 4-5/second EEG background activity at 4-5/second NOT_TRANSLATED -en nl HP:0011178 rdfs:label Alpha-EEG Alfa-EEG CANDIDATE -en nl HP:0011178 IAO:0000115 EEG dominated by diffuse alpha-waves (8-13Hz) EEG dominated by diffuse alpha-waves (8-13Hz) NOT_TRANSLATED -en nl HP:0011179 rdfs:label Beta-EEG Beta-EEG CANDIDATE -en nl HP:0011179 IAO:0000115 EEG dominated by diffuse beta-waves (>13 Hz) EEG dominated by diffuse beta-waves (>13 Hz) NOT_TRANSLATED -en nl HP:0011180 rdfs:label Partial beta-EEG Partieel beta-EEG CANDIDATE -en nl HP:0011180 IAO:0000115 EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz) EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz) NOT_TRANSLATED -en nl HP:0011181 rdfs:label Low voltage EEG Laag-voltage EEG CANDIDATE -en nl HP:0011181 IAO:0000115 EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz) EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz) NOT_TRANSLATED -en nl HP:0011182 rdfs:label Interictal epileptiform activity Epileptiforme EEG-ontladingen CANDIDATE -en nl HP:0011182 IAO:0000115 Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure NOT_TRANSLATED -en nl HP:0011183 rdfs:label EEG with hyperventilation-induced focal epileptiform discharges EEG met hyperventilatie-geïnduceerde focale epileptiforme ontladingen CANDIDATE -en nl HP:0011183 IAO:0000115 Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0011184 rdfs:label EEG with hyperventilation-induced generalized epileptiform discharges EEG met hyperventilatie-geïnduceerde gegeneraliseerde epileptiforme ontladingen CANDIDATE -en nl HP:0011184 IAO:0000115 Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0011185 rdfs:label EEG with focal epileptiform discharges EEG met focale epileptiforme ontladingen CANDIDATE -en nl HP:0011185 IAO:0000115 EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED -en nl HP:0011186 rdfs:label Focal epileptiform discharges with limited propagation to contralateral hemisphere Focale epileptiforme ontladingen met beperkte verspreiding naar contralaterale hemisfeer CANDIDATE -en nl HP:0011186 IAO:0000115 Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization NOT_TRANSLATED -en nl HP:0011187 rdfs:label Focal EEG discharges with propagation to ipsilateral hemisphere Focale EEG ontladingen met verspreiding naar ipsilaterale hemisfeer CANDIDATE -en nl HP:0011187 IAO:0000115 Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain NOT_TRANSLATED -en nl HP:0011188 rdfs:label Focal EEG discharges with secondary generalization Focale EEG ontladingen met secundaire generalisatie CANDIDATE -en nl HP:0011188 IAO:0000115 Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp NOT_TRANSLATED -en nl HP:0011189 rdfs:label Bilateral multifocal epileptiform discharges Bilaterale multifocale epileptiforme ontladingen CANDIDATE -en nl HP:0011189 IAO:0000115 Epileptiform discharges being identified at multiple locations in both hemispheres Epileptiform discharges being identified at multiple locations in both hemispheres NOT_TRANSLATED -en nl HP:0011190 rdfs:label Uni- and bilateral multifocal epileptiform discharges Uni- en bilaterale multifocale epileptiforme ontladingen CANDIDATE -en nl HP:0011190 IAO:0000115 Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere NOT_TRANSLATED -en nl HP:0011191 rdfs:label Unilateral multifocal epileptiform discharges Unilaterale multifocale epileptiforme ontladingen CANDIDATE -en nl HP:0011191 IAO:0000115 Epileptiform discharges being identified at multiple locations in one hemisphere Epileptiform discharges being identified at multiple locations in one hemisphere NOT_TRANSLATED -en nl HP:0011192 rdfs:label Polymorphic focal epileptiform discharges Polymorfe focale epileptiforme ontladingen CANDIDATE -en nl HP:0011192 IAO:0000115 Focal epileptiform discharges of different shapes and frequencies Focal epileptiform discharges of different shapes and frequencies NOT_TRANSLATED -en nl HP:0011193 rdfs:label EEG with focal spikes EEG met focale piekgolven CANDIDATE -en nl HP:0011193 IAO:0000115 EEG with focal sharp transient waves of a duration less than 80 msec EEG with focal sharp transient waves of a duration less than 80 msec NOT_TRANSLATED -en nl HP:0011194 rdfs:label EEG with series of focal spikes EEG with series of focal spikes NOT_TRANSLATED -en nl HP:0011194 IAO:0000115 Focal spikes occurring for several seconds Focal spikes occurring for several seconds NOT_TRANSLATED -en nl HP:0011195 rdfs:label EEG with focal sharp slow waves EEG with focal sharp slow waves NOT_TRANSLATED -en nl HP:0011195 IAO:0000115 EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011196 rdfs:label EEG with focal sharp waves EEG with focal sharp waves NOT_TRANSLATED -en nl HP:0011196 IAO:0000115 EEG with focal sharp transient waves of a duration between 80 and 200 msec EEG with focal sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED -en nl HP:0011197 rdfs:label EEG with focal spike waves EEG with focal spike waves NOT_TRANSLATED -en nl HP:0011197 IAO:0000115 EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011198 rdfs:label EEG with generalized epileptiform discharges EEG met gegeneraliseerde epileptiforme ontladingen CANDIDATE -en nl HP:0011198 IAO:0000115 EEG discharges recorded on the entire scalp typically seen in persons with epilepsy EEG discharges recorded on the entire scalp typically seen in persons with epilepsy NOT_TRANSLATED -en nl HP:0011199 rdfs:label EEG with generalized sharp slow waves EEG with generalized sharp slow waves NOT_TRANSLATED -en nl HP:0011199 IAO:0000115 EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011200 rdfs:label EEG with generalized polymorphic epileptiform discharges EEG met gegeneraliseerde polymorfe epileptiforme ontladingen CANDIDATE -en nl HP:0011200 IAO:0000115 Generalized epileptiform discharges of different shapes and frequencies Generalized epileptiform discharges of different shapes and frequencies NOT_TRANSLATED -en nl HP:0011201 rdfs:label EEG with changes in voltage EEG met veranderingen in voltage CANDIDATE -en nl HP:0011201 IAO:0000115 EEG with abnormal amplitude EEG with abnormal amplitude NOT_TRANSLATED -en nl HP:0011202 rdfs:label EEG with diffuse acceleration EEG with diffuse acceleration NOT_TRANSLATED -en nl HP:0011202 IAO:0000115 EEG frequency is abnormally increased EEG frequency is abnormally increased NOT_TRANSLATED -en nl HP:0011203 rdfs:label EEG with abnormally slow frequencies EEG with abnormally slow frequencies NOT_TRANSLATED -en nl HP:0011203 IAO:0000115 EEG with abnormally slow frequencies EEG with abnormally slow frequencies NOT_TRANSLATED -en nl HP:0011204 rdfs:label EEG with continuous slow activity EEG with continuous slow activity NOT_TRANSLATED -en nl HP:0011204 IAO:0000115 EEG showing diffuse slowing without interruption EEG showing diffuse slowing without interruption NOT_TRANSLATED -en nl HP:0011205 rdfs:label EEG with intermittent slow activity EEG with intermittent slow activity NOT_TRANSLATED -en nl HP:0011205 IAO:0000115 Non-continuous diffuse slowing of electroencephalographic patterns Non-continuous diffuse slowing of electroencephalographic patterns NOT_TRANSLATED -en nl HP:0011206 rdfs:label EEG with generalized slow activity grade 1 EEG with generalized slow activity grade 1 NOT_TRANSLATED -en nl HP:0011206 IAO:0000115 Slowing at frequencies between 7.5 and 8.5 Hz Slowing at frequencies between 7.5 and 8.5 Hz NOT_TRANSLATED -en nl HP:0011207 rdfs:label EEG with generalized slow activity grade 2 EEG with generalized slow activity grade 2 NOT_TRANSLATED -en nl HP:0011207 IAO:0000115 Generalized slowing of EEG activity at frequencies between 4-7 Hz Generalized slowing of EEG activity at frequencies between 4-7 Hz NOT_TRANSLATED -en nl HP:0011208 rdfs:label EEG with generalized slow activity grade 3 EEG with generalized slow activity grade 3 NOT_TRANSLATED -en nl HP:0011208 IAO:0000115 Generalized slowing of EEG activity at frequencies between 0.5-3 Hz Generalized slowing of EEG activity at frequencies between 0.5-3 Hz NOT_TRANSLATED -en nl HP:0011209 rdfs:label EEG with generalized slow activity grade 4 EEG with generalized slow activity grade 4 NOT_TRANSLATED -en nl HP:0011209 IAO:0000115 EEG without electrical activity EEG without electrical activity NOT_TRANSLATED -en nl HP:0011210 rdfs:label EEG with occipital slowing EEG with occipital slowing NOT_TRANSLATED -en nl HP:0011210 IAO:0000115 Slowing in occipital areas of the scalp EEG Slowing in occipital areas of the scalp EEG NOT_TRANSLATED -en nl HP:0011211 rdfs:label EEG with photoparoxysmal response grade I EEG met fotoparoxysmale respons graad I CANDIDATE -en nl HP:0011211 IAO:0000115 Occurrence of epileptiform discharges in occipital regions during photic stimulation Occurrence of epileptiform discharges in occipital regions during photic stimulation NOT_TRANSLATED -en nl HP:0011212 rdfs:label EEG with photoparoxysmal response grade II EEG met fotoparoxysmale respons graad II CANDIDATE -en nl HP:0011212 IAO:0000115 Occurence of epileptiform discharges in occipital and central regions during photic stimulation Occurence of epileptiform discharges in occipital and central regions during photic stimulation NOT_TRANSLATED -en nl HP:0011213 rdfs:label EEG with photoparoxysmal response grade III EEG met fotoparoxysmale respons graad III CANDIDATE -en nl HP:0011213 IAO:0000115 Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation NOT_TRANSLATED -en nl HP:0011214 rdfs:label EEG with photoparoxysmal response grade IV EEG met fotoparoxysmale respons graad IV CANDIDATE -en nl HP:0011214 IAO:0000115 Occurrence of generalized epileptiform discharges during photic stimulation Occurrence of generalized epileptiform discharges during photic stimulation NOT_TRANSLATED -en nl HP:0011215 rdfs:label Hemihypsarrhythmia Hemihypsarrhythmie CANDIDATE -en nl HP:0011215 IAO:0000115 Hypsarrhythmia occurring in one hemisphere Hypsarrhythmia occurring in one hemisphere NOT_TRANSLATED -en nl HP:0011217 rdfs:label Abnormal shape of the occiput Afwijkende vorm het achterhoofd CANDIDATE -en nl HP:0011217 IAO:0000115 An abnormal shape of occiput An abnormal shape of occiput NOT_TRANSLATED -en nl HP:0011218 rdfs:label Abnormal shape of the frontal region Afwijkende vorm van de frontale regio CANDIDATE -en nl HP:0011218 IAO:0000115 An abnormal shape of the frontal part of the head An abnormal shape of the frontal part of the head NOT_TRANSLATED -en nl HP:0011219 rdfs:label Short face Kort gezicht CANDIDATE -en nl HP:0011219 IAO:0000115 Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective) Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective) NOT_TRANSLATED -en nl HP:0011220 rdfs:label Prominent forehead Prominent voorhoofd CANDIDATE -en nl HP:0011220 IAO:0000115 Forward prominence of the entire forehead, due to protrusion of the frontal bone Forward prominence of the entire forehead, due to protrusion of the frontal bone NOT_TRANSLATED -en nl HP:0011221 rdfs:label Vertical forehead creases Verticale voorhoofd plooien CANDIDATE -en nl HP:0011221 IAO:0000115 Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest NOT_TRANSLATED -en nl HP:0011222 rdfs:label Depressed glabella Depressed glabella NOT_TRANSLATED -en nl HP:0011222 IAO:0000115 Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges NOT_TRANSLATED -en nl HP:0011223 rdfs:label Metopic depression Metopische depressie CANDIDATE -en nl HP:0011223 IAO:0000115 Linear vertical groove in the midline of the forehead, extending from hairline to glabella Linear vertical groove in the midline of the forehead, extending from hairline to glabella NOT_TRANSLATED -en nl HP:0011224 rdfs:label Ablepharon Ablefaron CANDIDATE -en nl HP:0011224 IAO:0000115 Absent eyelids Absent eyelids NOT_TRANSLATED -en nl HP:0011225 rdfs:label Epiblepharon Epiblefaron CANDIDATE -en nl HP:0011225 IAO:0000115 Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva NOT_TRANSLATED -en nl HP:0011226 rdfs:label Aplasia/Hypoplasia of the eyelid Aplasia/Hypoplasie van de ooglid CANDIDATE -en nl HP:0011226 IAO:0000115 Absence or underdevelopment of the eyelid Absence or underdevelopment of the eyelid NOT_TRANSLATED -en nl HP:0011227 rdfs:label Elevated circulating C-reactive protein concentration Verhoogd C-reactief proteïne niveau CANDIDATE -en nl HP:0011227 IAO:0000115 An abnormal elevation of the C-reactive protein level in the blood circulation An abnormal elevation of the C-reactive protein level in the blood circulation NOT_TRANSLATED -en nl HP:0011228 rdfs:label Horizontal eyebrow Horizontale wenkbrauw CANDIDATE -en nl HP:0011228 IAO:0000115 An eyebrow that extends straight across the brow, without curve An eyebrow that extends straight across the brow, without curve NOT_TRANSLATED -en nl HP:0011229 rdfs:label Broad eyebrow Brede wenkbrauw CANDIDATE -en nl HP:0011229 IAO:0000115 Regional increase in the width (height) of the eyebrow Regional increase in the width (height) of the eyebrow NOT_TRANSLATED -en nl HP:0011230 rdfs:label Laterally extended eyebrow Lateraal verlengde wenkbrauw CANDIDATE -en nl HP:0011230 IAO:0000115 An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location NOT_TRANSLATED -en nl HP:0011231 rdfs:label Prominent eyelashes Prominente wimpers CANDIDATE -en nl HP:0011231 IAO:0000115 Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly NOT_TRANSLATED -en nl HP:0011232 rdfs:label Infra-orbital fold Infra-orbitale vouw CANDIDATE -en nl HP:0011232 IAO:0000115 Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge NOT_TRANSLATED -en nl HP:0011233 rdfs:label Antihelical shelf Antihelical shelf NOT_TRANSLATED -en nl HP:0011233 IAO:0000115 Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha NOT_TRANSLATED -en nl HP:0011234 rdfs:label Absent antihelix Afwezige antihelix CANDIDATE -en nl HP:0011234 IAO:0000115 No discernible ridge between concha and triangular fossa and helix No discernible ridge between concha and triangular fossa and helix NOT_TRANSLATED -en nl HP:0011235 rdfs:label Additional crus of antihelix Extra crus anthelicis CANDIDATE -en nl HP:0011235 IAO:0000115 Supernumerary ridge or crus of the ear arising from the antihelix Supernumerary ridge or crus of the ear arising from the antihelix NOT_TRANSLATED -en nl HP:0011236 rdfs:label Angulated antihelix Angulated antihelix NOT_TRANSLATED -en nl HP:0011236 IAO:0000115 Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc NOT_TRANSLATED -en nl HP:0011237 rdfs:label Broad inferior crus of antihelix Brede inferieure crus anthelicis CANDIDATE -en nl HP:0011237 IAO:0000115 Increased width of the inferred cross-section of the inferior crus Increased width of the inferred cross-section of the inferior crus NOT_TRANSLATED -en nl HP:0011238 rdfs:label Prominent inferior crus of antihelix Prominente inferieure crus anthelicis CANDIDATE -en nl HP:0011238 IAO:0000115 Increased protrusion of the inferior crus relative to the prominence of the antihelix stem Increased protrusion of the inferior crus relative to the prominence of the antihelix stem NOT_TRANSLATED -en nl HP:0011239 rdfs:label Underdeveloped inferior crus of antihelix Onderontwikkelde inferieure crus anthelicis CANDIDATE -en nl HP:0011239 IAO:0000115 Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem NOT_TRANSLATED -en nl HP:0011240 rdfs:label Prominent stem of antihelix Prominente stam van antihelix CANDIDATE -en nl HP:0011240 IAO:0000115 Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix NOT_TRANSLATED -en nl HP:0011241 rdfs:label Serpiginous stem of antihelix Serpigineuze stam van antihelix CANDIDATE -en nl HP:0011241 IAO:0000115 Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha NOT_TRANSLATED -en nl HP:0011242 rdfs:label Underdeveloped stem of antihelix Onderontwikkelde stam van antihelix CANDIDATE -en nl HP:0011242 IAO:0000115 Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix NOT_TRANSLATED -en nl HP:0011243 rdfs:label Abnormality of inferior crus of antihelix Afwijkende inferieure crus anthelicis CANDIDATE -en nl HP:0011243 IAO:0000115 An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa NOT_TRANSLATED -en nl HP:0011244 rdfs:label Abnormality of stem of antihelix Afwijking van stam van antihelix CANDIDATE -en nl HP:0011244 IAO:0000115 An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura NOT_TRANSLATED -en nl HP:0011245 rdfs:label Abnormality of superior crus of antihelix Afwijkende superieure crus anthelicis CANDIDATE -en nl HP:0011245 IAO:0000115 An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa NOT_TRANSLATED -en nl HP:0011246 rdfs:label Underdeveloped superior crus of antihelix Onderontwikkelde superieure crus anthelicis CANDIDATE -en nl HP:0011246 IAO:0000115 Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem NOT_TRANSLATED -en nl HP:0011247 rdfs:label Prominent superior crus of antihelix Prominente superieure crus anthelicis CANDIDATE -en nl HP:0011247 IAO:0000115 Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem NOT_TRANSLATED -en nl HP:0011248 rdfs:label Everted antitragus Everted antitragus NOT_TRANSLATED -en nl HP:0011248 IAO:0000115 Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear) Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear) NOT_TRANSLATED -en nl HP:0011249 rdfs:label Absent antitragus Afwezige antitragus CANDIDATE -en nl HP:0011249 IAO:0000115 Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix NOT_TRANSLATED -en nl HP:0011250 rdfs:label Bifid antitragus Bifide antitragus CANDIDATE -en nl HP:0011250 IAO:0000115 Double rather than single peak of the antitragus Double rather than single peak of the antitragus NOT_TRANSLATED -en nl HP:0011251 rdfs:label Underdeveloped antitragus Onderontwikkelde antitragus CANDIDATE -en nl HP:0011251 IAO:0000115 Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix NOT_TRANSLATED -en nl HP:0011252 rdfs:label Cryptotia Cryptotie CANDIDATE -en nl HP:0011252 IAO:0000115 Invagination of the superior part of the auricle under a fold of temporal skin Invagination of the superior part of the auricle under a fold of temporal skin NOT_TRANSLATED -en nl HP:0011253 rdfs:label Type I cryptotia Type I cryptotie CANDIDATE -en nl HP:0011253 IAO:0000115 A type of cryptotia associated with reduction in size of the antihelix and superior crus A type of cryptotia associated with reduction in size of the antihelix and superior crus NOT_TRANSLATED -en nl HP:0011254 rdfs:label Type II cryptotia Type II cryptotie CANDIDATE -en nl HP:0011254 IAO:0000115 A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected NOT_TRANSLATED -en nl HP:0011255 rdfs:label Absent crus of helix Afwezige crus helicis CANDIDATE -en nl HP:0011255 IAO:0000115 Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha NOT_TRANSLATED -en nl HP:0011256 rdfs:label Crus of helix connected to antihelix Crus helices verbonden met antihelix CANDIDATE -en nl HP:0011256 IAO:0000115 Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix NOT_TRANSLATED -en nl HP:0011257 rdfs:label Serpiginous crus of helix Serpigineuze crus helicis CANDIDATE -en nl HP:0011257 IAO:0000115 Curving course of the crus of the helix, approaching or joining the antitragus Curving course of the crus of the helix, approaching or joining the antitragus NOT_TRANSLATED -en nl HP:0011258 rdfs:label Tragal bridge of crus of helix Tragal bridge of crus of helix NOT_TRANSLATED -en nl HP:0011258 IAO:0000115 The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix NOT_TRANSLATED -en nl HP:0011259 rdfs:label Expanded terminal portion of crus of helix Expanded terminal portion of crus of helix NOT_TRANSLATED -en nl HP:0011259 IAO:0000115 Widening, rather than tapering, of the crus at its posterior border near the antihelix Widening, rather than tapering, of the crus at its posterior border near the antihelix NOT_TRANSLATED -en nl HP:0011260 rdfs:label Darwin notch of helix Darwin notch of helix NOT_TRANSLATED -en nl HP:0011260 IAO:0000115 Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix NOT_TRANSLATED -en nl HP:0011261 rdfs:label Darwin tubercle of helix Darwin tubercle of helix NOT_TRANSLATED -en nl HP:0011261 IAO:0000115 Small expansion of the helical fold at the junction of the superior and descending portions of the helix Small expansion of the helical fold at the junction of the superior and descending portions of the helix NOT_TRANSLATED -en nl HP:0011262 rdfs:label Crimped helix Crimped helix NOT_TRANSLATED -en nl HP:0011262 IAO:0000115 Linear, circumferential indentation in the convexity of the outer surface of the helix Linear, circumferential indentation in the convexity of the outer surface of the helix NOT_TRANSLATED -en nl HP:0011263 rdfs:label Forward facing earlobe Forward facing earlobe NOT_TRANSLATED -en nl HP:0011263 IAO:0000115 Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear NOT_TRANSLATED -en nl HP:0011264 rdfs:label Discontinuous ascending root of helix Discontinuous ascending root of helix NOT_TRANSLATED -en nl HP:0011264 IAO:0000115 Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid NOT_TRANSLATED -en nl HP:0011265 rdfs:label Cleft earlobe Gespleten oorlel CANDIDATE -en nl HP:0011265 IAO:0000115 Discontinuity in the convexity of the inferior margin of the lobe Discontinuity in the convexity of the inferior margin of the lobe NOT_TRANSLATED -en nl HP:0011266 rdfs:label Microtia, first degree Microtie, eerstegraads CANDIDATE -en nl HP:0011266 IAO:0000115 Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean NOT_TRANSLATED -en nl HP:0011267 rdfs:label Microtia, third degree Microtie, derdegraads CANDIDATE -en nl HP:0011267 IAO:0000115 Presence of some auricular structures, but none of these structures conform to recognized ear components Presence of some auricular structures, but none of these structures conform to recognized ear components NOT_TRANSLATED -en nl HP:0011268 rdfs:label Absent tragus Afwezige tragus CANDIDATE -en nl HP:0011268 IAO:0000115 Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix NOT_TRANSLATED -en nl HP:0011269 rdfs:label Bifid tragus Bifide tragus CANDIDATE -en nl HP:0011269 IAO:0000115 Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak NOT_TRANSLATED -en nl HP:0011270 rdfs:label Duplicated tragus Gedupliceerde tragus CANDIDATE -en nl HP:0011270 IAO:0000115 A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus NOT_TRANSLATED -en nl HP:0011271 rdfs:label Prominent tragus Prominente tragus CANDIDATE -en nl HP:0011271 IAO:0000115 Increase posterolateral protrusion of the tragus Increase posterolateral protrusion of the tragus NOT_TRANSLATED -en nl HP:0011272 rdfs:label Underdeveloped tragus Onderontwikkelde tragus CANDIDATE -en nl HP:0011272 IAO:0000115 Decreased posterolateral protrusion of the tragus Decreased posterolateral protrusion of the tragus NOT_TRANSLATED -en nl HP:0011273 rdfs:label Anisocytosis Anisocytose CANDIDATE -en nl HP:0011273 IAO:0000115 Abnormally increased variability in the size of erythrocytes Abnormally increased variability in the size of erythrocytes NOT_TRANSLATED -en nl HP:0011274 rdfs:label Recurrent mycobacterial infections Recidiverende mycobacteriële infecties CANDIDATE -en nl HP:0011274 IAO:0000115 Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection NOT_TRANSLATED -en nl HP:0011275 rdfs:label Recurrent mycobacterium avium complex infections Recidiverende mycobacterium avium complex infecties CANDIDATE -en nl HP:0011275 IAO:0000115 Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection NOT_TRANSLATED -en nl HP:0011276 rdfs:label Vascular skin abnormality Vasculaire huid afwijking CANDIDATE -en nl HP:0011277 rdfs:label Abnormality of the urinary system physiology Afwijking van de urologische systeem fysiologie CANDIDATE -en nl HP:0011278 rdfs:label Intrapulmonary sequestration Intrapulmonale sequestratie CANDIDATE -en nl HP:0011278 IAO:0000115 A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree NOT_TRANSLATED -en nl HP:0011279 rdfs:label Abnormality of urine bicarbonate level Afwijkende urine bicarbonaat concentratie CANDIDATE -en nl HP:0011279 IAO:0000115 An abnormal amount of hydrogencarbonate in the urine An abnormal amount of hydrogencarbonate in the urine NOT_TRANSLATED -en nl HP:0011280 rdfs:label Abnormality of urine calcium concentration Afwijkende urine calcium concentratie CANDIDATE -en nl HP:0011280 IAO:0000115 An abnormality of calcium concentration in the urine An abnormality of calcium concentration in the urine NOT_TRANSLATED -en nl HP:0011281 rdfs:label Abnormality of urine catecholamine level Afwijkende urine catecholamine concentratie CANDIDATE -en nl HP:0011281 IAO:0000115 An abnormal amount of urinary catecholamine concentration An abnormal amount of urinary catecholamine concentration NOT_TRANSLATED -en nl HP:0011282 rdfs:label Abnormal hindbrain morphology Afwijking van de morfologie van het rhombencephalon CANDIDATE -en nl HP:0011282 IAO:0000115 An abnormality of the hindbrain, also known as the rhombencephalon An abnormality of the hindbrain, also known as the rhombencephalon NOT_TRANSLATED -en nl HP:0011283 rdfs:label Abnormal metencephalon morphology Afwijking van het metencephalon CANDIDATE -en nl HP:0011283 IAO:0000115 An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum NOT_TRANSLATED -en nl HP:0011284 rdfs:label Short-segment aganglionic megacolon Kort-segment agangliotisch megacolon CANDIDATE -en nl HP:0011284 IAO:0000115 A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid NOT_TRANSLATED -en nl HP:0011285 rdfs:label Long-segment aganglionic megacolon Lang-segment agangliotisch megacolon CANDIDATE -en nl HP:0011285 IAO:0000115 A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid NOT_TRANSLATED -en nl HP:0011286 rdfs:label Total colonic aganglionosis Totale colonische aganglionose CANDIDATE -en nl HP:0011286 IAO:0000115 A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon NOT_TRANSLATED -en nl HP:0011287 rdfs:label EEG with occipital sharp slow waves EEG with occipital sharp slow waves NOT_TRANSLATED -en nl HP:0011287 IAO:0000115 EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011288 rdfs:label EEG with parietal sharp slow waves EEG with parietal sharp slow waves NOT_TRANSLATED -en nl HP:0011288 IAO:0000115 EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011289 rdfs:label EEG with temporal sharp slow waves EEG with temporal sharp slow waves NOT_TRANSLATED -en nl HP:0011289 IAO:0000115 EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011290 rdfs:label EEG with frontal sharp slow waves EEG with frontal sharp slow waves NOT_TRANSLATED -en nl HP:0011290 IAO:0000115 EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011291 rdfs:label EEG with central sharp slow waves EEG with central sharp slow waves NOT_TRANSLATED -en nl HP:0011291 IAO:0000115 EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0011292 rdfs:label EEG with occipital sharp waves EEG with occipital sharp waves NOT_TRANSLATED -en nl HP:0011292 IAO:0000115 EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED -en nl HP:0011293 rdfs:label EEG with central sharp waves EEG with central sharp waves NOT_TRANSLATED -en nl HP:0011293 IAO:0000115 EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED -en nl HP:0011294 rdfs:label EEG with frontal sharp waves EEG with frontal sharp waves NOT_TRANSLATED -en nl HP:0011294 IAO:0000115 EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED -en nl HP:0011295 rdfs:label EEG with parietal sharp waves EEG with parietal sharp waves NOT_TRANSLATED -en nl HP:0011295 IAO:0000115 EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED -en nl HP:0011296 rdfs:label EEG with temporal sharp waves EEG with temporal sharp waves NOT_TRANSLATED -en nl HP:0011296 IAO:0000115 EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED -en nl HP:0011297 rdfs:label Abnormal digit morphology Afwijking van vinger/teen CANDIDATE -en nl HP:0011297 IAO:0000115 A morphological abnormality of a digit, i.e., of a finger or toe A morphological abnormality of a digit, i.e., of a finger or toe NOT_TRANSLATED -en nl HP:0011298 rdfs:label Prominent digit pad Prominent digit pad NOT_TRANSLATED -en nl HP:0011298 IAO:0000115 A soft tissue prominence of the ventral aspects of the fingertips or toe tips A soft tissue prominence of the ventral aspects of the fingertips or toe tips NOT_TRANSLATED -en nl HP:0011299 rdfs:label Partial absence of finger Partiële afwezigheid van vinger CANDIDATE -en nl HP:0011299 IAO:0000115 The absence of a phalangeal segment of a finger The absence of a phalangeal segment of a finger NOT_TRANSLATED -en nl HP:0011300 rdfs:label Broad fingertip Brede vingertop CANDIDATE -en nl HP:0011300 IAO:0000115 Increased width of the distal segment of a finger Increased width of the distal segment of a finger NOT_TRANSLATED -en nl HP:0011301 rdfs:label Absent foot Afwezige voet CANDIDATE -en nl HP:0011301 IAO:0000115 The total absence of the foot, with no bony elements distal to the tibia or fibula The total absence of the foot, with no bony elements distal to the tibia or fibula NOT_TRANSLATED -en nl HP:0011302 rdfs:label Long palm Lange palm CANDIDATE -en nl HP:0011302 IAO:0000115 For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length NOT_TRANSLATED -en nl HP:0011303 rdfs:label Convex contour of sole Convexe contour van zool CANDIDATE -en nl HP:0011303 IAO:0000115 The contour of the foot in lateral profile has a convex shape The contour of the foot in lateral profile has a convex shape NOT_TRANSLATED -en nl HP:0011304 rdfs:label Broad thumb Brede duim CANDIDATE -en nl HP:0011304 IAO:0000115 Increased thumb width without increased dorso-ventral dimension Increased thumb width without increased dorso-ventral dimension NOT_TRANSLATED -en nl HP:0011305 rdfs:label Partial absence of toe Partiële afwezigheid van teen CANDIDATE -en nl HP:0011305 IAO:0000115 The absence of a phalangeal segment of a toe or hallux The absence of a phalangeal segment of a toe or hallux NOT_TRANSLATED -en nl HP:0011307 rdfs:label Splayed toes Gespreide tenen CANDIDATE -en nl HP:0011307 IAO:0000115 Divergence of digits along the anteroposterior axis (in the plane of the sole) Divergence of digits along the anteroposterior axis (in the plane of the sole) NOT_TRANSLATED -en nl HP:0011308 rdfs:label Slender toe Slanke teen CANDIDATE -en nl HP:0011308 IAO:0000115 Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual NOT_TRANSLATED -en nl HP:0011309 rdfs:label Tapered toe Taps toelopende teen CANDIDATE -en nl HP:0011309 IAO:0000115 The gradual reduction in girth of the toe from proximal to distal The gradual reduction in girth of the toe from proximal to distal NOT_TRANSLATED -en nl HP:0011310 rdfs:label Bridged palmar crease Gebrugde handlijn CANDIDATE -en nl HP:0011310 IAO:0000115 A crease that connects the proximal and distal transverse palmar creases A crease that connects the proximal and distal transverse palmar creases NOT_TRANSLATED -en nl HP:0011311 rdfs:label Sydney crease Sydney lijn CANDIDATE -en nl HP:0011311 IAO:0000115 Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm NOT_TRANSLATED -en nl HP:0011312 rdfs:label Fused nails Gefuseerde nagels CANDIDATE -en nl HP:0011312 IAO:0000115 A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature NOT_TRANSLATED -en nl HP:0011313 rdfs:label Narrow nail Smalle nagel CANDIDATE -en nl HP:0011313 IAO:0000115 Decreased width of nail Decreased width of nail NOT_TRANSLATED -en nl HP:0011314 rdfs:label Abnormal long bone morphology Afwijking van lange bot morfologie CANDIDATE -en nl HP:0011314 IAO:0000115 An abnormality of size or shape of the long bones An abnormality of size or shape of the long bones NOT_TRANSLATED -en nl HP:0011315 rdfs:label Unicoronal synostosis Unicoronale synostose CANDIDATE -en nl HP:0011315 IAO:0000115 Synostosis affecting only one of the coronal sutures Synostosis affecting only one of the coronal sutures NOT_TRANSLATED -en nl HP:0011316 rdfs:label Left unicoronal synostosis Linker unicoronale synostose CANDIDATE -en nl HP:0011316 IAO:0000115 Synostosis affecting only the left coronal suture Synostosis affecting only the left coronal suture NOT_TRANSLATED -en nl HP:0011317 rdfs:label Right unicoronal synostosis Rechter unicoronale synostose CANDIDATE -en nl HP:0011317 IAO:0000115 Unicoronal synostosis affecting only the right coronal suture Unicoronal synostosis affecting only the right coronal suture NOT_TRANSLATED -en nl HP:0011318 rdfs:label Bicoronal synostosis Bicoronale synostose CANDIDATE -en nl HP:0011318 IAO:0000115 Synostosis affecting the right and the left coronal suture Synostosis affecting the right and the left coronal suture NOT_TRANSLATED -en nl HP:0011319 rdfs:label Bilambdoid synostosis Bilambdoid synostosis NOT_TRANSLATED -en nl HP:0011319 IAO:0000115 Premature synostosis of both lambdoid sutures Premature synostosis of both lambdoid sutures NOT_TRANSLATED -en nl HP:0011320 rdfs:label Unilambdoid synostosis Unilambdoid synostosis NOT_TRANSLATED -en nl HP:0011320 IAO:0000115 Premature synostosis of only one lambdoid suture Premature synostosis of only one lambdoid suture NOT_TRANSLATED -en nl HP:0011321 rdfs:label Left unilambdoid synostosis Left unilambdoid synostosis NOT_TRANSLATED -en nl HP:0011321 IAO:0000115 Premature synostosis of only the left lambdoid suture Premature synostosis of only the left lambdoid suture NOT_TRANSLATED -en nl HP:0011322 rdfs:label Right unilambdoid synostosis Right unilambdoid synostosis NOT_TRANSLATED -en nl HP:0011322 IAO:0000115 Premature synostosis of only the right lambdoid suture Premature synostosis of only the right lambdoid suture NOT_TRANSLATED -en nl HP:0011323 rdfs:label Cleft of chin Gespleten kin CANDIDATE -en nl HP:0011323 IAO:0000115 Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin NOT_TRANSLATED -en nl HP:0011324 rdfs:label Multiple suture craniosynostosis Craniosynostose van multipele suturen CANDIDATE -en nl HP:0011324 IAO:0000115 Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified NOT_TRANSLATED -en nl HP:0011325 rdfs:label Pansynostosis Pansynostose CANDIDATE -en nl HP:0011325 IAO:0000115 Craniosynostosis of all calvarial sutures Craniosynostosis of all calvarial sutures NOT_TRANSLATED -en nl HP:0011326 rdfs:label Anterior plagiocephaly Anterieure plagiocefalie CANDIDATE -en nl HP:0011326 IAO:0000115 Asymmetry of the anterior part of the skull Asymmetry of the anterior part of the skull NOT_TRANSLATED -en nl HP:0011327 rdfs:label Posterior plagiocephaly Posterieure plagiocefalie CANDIDATE -en nl HP:0011327 IAO:0000115 Asymmetry of the posterior part of the skull Asymmetry of the posterior part of the skull NOT_TRANSLATED -en nl HP:0011328 rdfs:label Abnormality of fontanelles Afwijking van fontanellen CANDIDATE -en nl HP:0011328 IAO:0000115 An abnormality of the fontanelle An abnormality of the fontanelle NOT_TRANSLATED -en nl HP:0011329 rdfs:label Abnormality of cranial sutures Afwijking van de craniale suturen CANDIDATE -en nl HP:0011329 IAO:0000115 Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant NOT_TRANSLATED -en nl HP:0011330 rdfs:label Metopic synostosis Metopische synostose CANDIDATE -en nl HP:0011330 IAO:0000115 Premature fusion of the metopic suture Premature fusion of the metopic suture NOT_TRANSLATED -en nl HP:0011331 rdfs:label Hemifacial atrophy Hemifaciale atrofie CANDIDATE -en nl HP:0011331 IAO:0000115 Unilateral atrophy of facial tissues, including muscles, bones and skin Unilateral atrophy of facial tissues, including muscles, bones and skin NOT_TRANSLATED -en nl HP:0011332 rdfs:label Hemifacial hypoplasia Hemifaciale hypoplasie CANDIDATE -en nl HP:0011332 IAO:0000115 Unilateral underdevelopment of the facial tissues, including muscles and bones Unilateral underdevelopment of the facial tissues, including muscles and bones NOT_TRANSLATED -en nl HP:0011333 rdfs:label Asymmetric crying face Asymmetrisch huilend gezicht CANDIDATE -en nl HP:0011333 IAO:0000115 Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side NOT_TRANSLATED -en nl HP:0011334 rdfs:label Facial shape deformation Misvorming van de vorm van het gezicht CANDIDATE -en nl HP:0011335 rdfs:label Frontal hirsutism Frontaal hirsutisme CANDIDATE -en nl HP:0011335 IAO:0000115 Excessive amount of hair growth on forehead Excessive amount of hair growth on forehead NOT_TRANSLATED -en nl HP:0011336 rdfs:label Bitemporal forceps marks Bitemporal forceps marks NOT_TRANSLATED -en nl HP:0011336 IAO:0000115 Bilateral temporal scarlike defects, which are said to resemble forceps marks Bilateral temporal scarlike defects, which are said to resemble forceps marks NOT_TRANSLATED -en nl HP:0011337 rdfs:label Abnormality of mouth size Afwijking van de grootte van de mond CANDIDATE -en nl HP:0011338 rdfs:label Abnormality of mouth shape Afwijking van vorm van de mond CANDIDATE -en nl HP:0011338 IAO:0000115 An abnormality of the outline, configuration, or contour of the mouth An abnormality of the outline, configuration, or contour of the mouth NOT_TRANSLATED -en nl HP:0011339 rdfs:label Abnormality of upper lip vermillion Afwijking van bovenlip vermiljoen CANDIDATE -en nl HP:0011339 IAO:0000115 An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin NOT_TRANSLATED -en nl HP:0011340 rdfs:label Incomplete cleft of the upper lip Incomplete schisis van bovenlip CANDIDATE -en nl HP:0011340 IAO:0000115 A subtle unilateral cleft of the upper lip, which may appear as a small indentation A subtle unilateral cleft of the upper lip, which may appear as a small indentation NOT_TRANSLATED -en nl HP:0011341 rdfs:label Long upper lip Lange bovenlip CANDIDATE -en nl HP:0011341 IAO:0000115 Increased width of the upper lip Increased width of the upper lip NOT_TRANSLATED -en nl HP:0011342 rdfs:label Mild global developmental delay Milde globale vertraging in de ontwikkeling CANDIDATE -en nl HP:0011342 IAO:0000115 A mild delay in the achievement of motor or mental milestones in the domains of development of a child A mild delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED -en nl HP:0011343 rdfs:label Moderate global developmental delay Matige globale vertraging in de ontwikkeling CANDIDATE -en nl HP:0011343 IAO:0000115 A moderate delay in the achievement of motor or mental milestones in the domains of development of a child A moderate delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED -en nl HP:0011344 rdfs:label Severe global developmental delay Ernstige globale vertraging in de ontwikkeling CANDIDATE -en nl HP:0011344 IAO:0000115 A severe delay in the achievement of motor or mental milestones in the domains of development of a child A severe delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED -en nl HP:0011345 rdfs:label Moderate expressive language delay Matige expressieve taalachterstand CANDIDATE -en nl HP:0011345 IAO:0000115 A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED -en nl HP:0011346 rdfs:label Mild expressive language delay Milde expressieve taalachterstand CANDIDATE -en nl HP:0011346 IAO:0000115 A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED -en nl HP:0011347 rdfs:label Abnormality of ocular abduction Afwijking van oculaire abductie CANDIDATE -en nl HP:0011347 IAO:0000115 An abnormality involving the movement of the eye outwards An abnormality involving the movement of the eye outwards NOT_TRANSLATED -en nl HP:0011348 rdfs:label Abnormal sixth cranial nerve morphology Afwijking van de zesde hersenzenuw CANDIDATE -en nl HP:0011348 IAO:0000115 Any structural abnormality of the abducens nerve Een afwijking van de nervus abducens CANDIDATE -en nl HP:0011350 rdfs:label Mild receptive language delay Milde receptieve taalachterstand CANDIDATE -en nl HP:0011350 IAO:0000115 A mild delay in the acquisition of the ability to understand the speech of others A mild delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED -en nl HP:0011351 rdfs:label Moderate receptive language delay Matige receptieve taalachterstand CANDIDATE -en nl HP:0011351 IAO:0000115 A moderate delay in the acquisition of the ability to understand the speech of others A moderate delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED -en nl HP:0011352 rdfs:label Severe receptive language delay Ernstige receptieve taalachterstand CANDIDATE -en nl HP:0011352 IAO:0000115 A severe delay in the acquisition of the ability to understand the speech of others A severe delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED -en nl HP:0011353 rdfs:label Arterial intimal fibrosis Fibrose van arteriële intima CANDIDATE -en nl HP:0011353 IAO:0000115 Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries NOT_TRANSLATED -en nl HP:0011354 rdfs:label Generalized abnormality of skin Gegeneraliseerde afwijking van huid CANDIDATE -en nl HP:0011354 IAO:0000115 An abnormality of the skin that is not localized to any one particular region An abnormality of the skin that is not localized to any one particular region NOT_TRANSLATED -en nl HP:0011355 rdfs:label Localized skin lesion Gelokaliseerde huid lesie CANDIDATE -en nl HP:0011355 IAO:0000115 A lesion of the skin that is located in a specific region rather than being generalized A lesion of the skin that is located in a specific region rather than being generalized NOT_TRANSLATED -en nl HP:0011356 rdfs:label Regional abnormality of skin Regionale afwijking van huid CANDIDATE -en nl HP:0011356 IAO:0000115 An abnormality of the skin that is restricted to a particular body region An abnormality of the skin that is restricted to a particular body region NOT_TRANSLATED -en nl HP:0011358 rdfs:label Generalized hypopigmentation of hair Gegeneraliseerde hypopigmentatie van haar CANDIDATE -en nl HP:0011358 IAO:0000115 Reduced pigmentation of hair diffusely Reduced pigmentation of hair diffusely NOT_TRANSLATED -en nl HP:0011359 rdfs:label Dry hair Droog haar CANDIDATE -en nl HP:0011359 IAO:0000115 Hair that lacks the lustre (shine or gleam) of normal hair Hair that lacks the lustre (shine or gleam) of normal hair NOT_TRANSLATED -en nl HP:0011360 rdfs:label Acquired abnormal hair pattern Verworven afwijkend haar patroon CANDIDATE -en nl HP:0011360 IAO:0000115 An abnormality of the distribution of hair growth that is acquired during the course of life An abnormality of the distribution of hair growth that is acquired during the course of life NOT_TRANSLATED -en nl HP:0011361 rdfs:label Congenital abnormal hair pattern Congenitaal afwijkend haar patroon CANDIDATE -en nl HP:0011361 IAO:0000115 A congenital abnormality of the distribution of hair growth A congenital abnormality of the distribution of hair growth NOT_TRANSLATED -en nl HP:0011362 rdfs:label Abnormal hair quantity Afwijkende haar hoeveelheid CANDIDATE -en nl HP:0011362 IAO:0000115 An abnormal amount of hair An abnormal amount of hair NOT_TRANSLATED -en nl HP:0011363 rdfs:label Abnormality of hair growth rate Afwijkende snelheid van haargroei CANDIDATE -en nl HP:0011363 IAO:0000115 Hair whose growth rate deviates from the norm Hair whose growth rate deviates from the norm NOT_TRANSLATED -en nl HP:0011364 rdfs:label White hair Wit haar CANDIDATE -en nl HP:0011364 IAO:0000115 Hypopigmented hair that appears white Hypopigmented hair that appears white NOT_TRANSLATED -en nl HP:0011365 rdfs:label Patchy hypopigmentation of hair Fragmentarische hypopigmentatie van haar CANDIDATE -en nl HP:0011365 IAO:0000115 Reduced pigmentation of hair in patches Reduced pigmentation of hair in patches NOT_TRANSLATED -en nl HP:0011367 rdfs:label Yellow nails Gele nagels CANDIDATE -en nl HP:0011367 IAO:0000115 Yellowish discoloration of the nails Yellowish discoloration of the nails NOT_TRANSLATED -en nl HP:0011368 rdfs:label Epidermal thickening Epidermale verdikking CANDIDATE -en nl HP:0011368 IAO:0000115 Thickening of the epidermal layer of the skin Thickening of the epidermal layer of the skin NOT_TRANSLATED -en nl HP:0011369 rdfs:label Mongolian blue spot Mongolenvlek CANDIDATE -en nl HP:0011369 IAO:0000115 Congenital deep dermal melanosis in the sacral area Congenital deep dermal melanosis in the sacral area NOT_TRANSLATED -en nl HP:0011370 rdfs:label Recurrent cutaneous fungal infections Recidiverende cutane schimmel-infecties CANDIDATE -en nl HP:0011370 IAO:0000115 Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections NOT_TRANSLATED -en nl HP:0011371 rdfs:label Recurrent viral skin infections Recidiverende virale huidinfecties CANDIDATE -en nl HP:0011371 IAO:0000115 Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections NOT_TRANSLATED -en nl HP:0011372 rdfs:label Aplasia of the inner ear Aplasie van het binnenoor CANDIDATE -en nl HP:0011372 IAO:0000115 Absence of the inner ear due to a developmental defect Absence of the inner ear due to a developmental defect NOT_TRANSLATED -en nl HP:0011373 rdfs:label Incomplete partition of the cochlea Onvolledige partitie van het slakkenhuis CANDIDATE -en nl HP:0011373 IAO:0000115 Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema NOT_TRANSLATED -en nl HP:0011374 rdfs:label Incomplete partition of the cochlea type I Onvolledige partitie van het slakkenhuis type I CANDIDATE -en nl HP:0011374 IAO:0000115 Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation NOT_TRANSLATED -en nl HP:0011375 rdfs:label Cochlear aplasia Cochleaire aplasie CANDIDATE -en nl HP:0011375 IAO:0000115 Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect NOT_TRANSLATED -en nl HP:0011376 rdfs:label Morphological abnormality of the vestibule of the inner ear Morfologische afwijking van het vestibulum van het binnenoor CANDIDATE -en nl HP:0011376 IAO:0000115 A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals NOT_TRANSLATED -en nl HP:0011377 rdfs:label Aplasia of the vestibule Aplasie van het vestibulum CANDIDATE -en nl HP:0011377 IAO:0000115 Complete absence of the vestibule of the inner ear Complete absence of the vestibule of the inner ear NOT_TRANSLATED -en nl HP:0011378 rdfs:label Hypoplasia of the vestibule of the inner ear Hypoplasie van het vestibulum van het binnenoor CANDIDATE -en nl HP:0011378 IAO:0000115 Underdevelopment of the vestibule of the inner ear Underdevelopment of the vestibule of the inner ear NOT_TRANSLATED -en nl HP:0011379 rdfs:label Dilated vestibule of the inner ear Verwijd vestibulum van het binnenoor CANDIDATE -en nl HP:0011379 IAO:0000115 Dilatation of the vestibule of the inner ear Dilatation of the vestibule of the inner ear NOT_TRANSLATED -en nl HP:0011380 rdfs:label Morphological abnormality of the semicircular canal Morfologische afwijkingen van het semicirculaire kanaal CANDIDATE -en nl HP:0011380 IAO:0000115 An abnormality of the morphology of the semicircular canal An abnormality of the morphology of the semicircular canal NOT_TRANSLATED -en nl HP:0011381 rdfs:label Aplasia of the semicircular canal Aplasie van de semicirculaire kanaal CANDIDATE -en nl HP:0011381 IAO:0000115 Absence of the semicircular canal Absence of the semicircular canal NOT_TRANSLATED -en nl HP:0011382 rdfs:label Hypoplasia of the semicircular canal Hypoplasie van de semicirculaire kanaal CANDIDATE -en nl HP:0011382 IAO:0000115 Underdevelopment of the semicircular canal Underdevelopment of the semicircular canal NOT_TRANSLATED -en nl HP:0011383 rdfs:label Enlarged semicircular canal Vergroot van de semicirculaire kanaal CANDIDATE -en nl HP:0011383 IAO:0000115 Increased size of the semicircular canal Increased size of the semicircular canal NOT_TRANSLATED -en nl HP:0011384 rdfs:label Abnormality of the internal auditory canal Afwijking van de interne gehoorgang CANDIDATE -en nl HP:0011384 IAO:0000115 An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse NOT_TRANSLATED -en nl HP:0011385 rdfs:label Absent internal auditory canal Afwezige interne gehoorgang CANDIDATE -en nl HP:0011385 IAO:0000115 Aplasia of the internal auditory canal Aplasia of the internal auditory canal NOT_TRANSLATED -en nl HP:0011386 rdfs:label Narrow internal auditory canal Smalle interne gehoorgang CANDIDATE -en nl HP:0011386 IAO:0000115 Reduction in diameter of the internal auditory canal Reduction in diameter of the internal auditory canal NOT_TRANSLATED -en nl HP:0011387 rdfs:label Enlarged vestibular aqueduct Vergroot vestibulair aquaduct CANDIDATE -en nl HP:0011387 IAO:0000115 Increased size of the vestibular aqueduct Increased size of the vestibular aqueduct NOT_TRANSLATED -en nl HP:0011388 rdfs:label Enlarged cochlear aqueduct Vergroot cochleair aquaduct CANDIDATE -en nl HP:0011388 IAO:0000115 Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular NOT_TRANSLATED -en nl HP:0011389 rdfs:label Functional abnormality of the inner ear Functionele afwijking van het binnenoor CANDIDATE -en nl HP:0011389 IAO:0000115 An abnormality of the function of the inner ear An abnormality of the function of the inner ear NOT_TRANSLATED -en nl HP:0011390 rdfs:label Morphological abnormality of the inner ear Morfologische afwijkingen van het binnenoor CANDIDATE -en nl HP:0011390 IAO:0000115 A structural anomaly of the internal part of the ear A structural anomaly of the internal part of the ear NOT_TRANSLATED -en nl HP:0011391 rdfs:label Morphological abnormality of the nerves of the inner ear Morfologische afwijking van de zenuwen van het binnenoor CANDIDATE -en nl HP:0011392 rdfs:label Abnormality of the vestibular nerve Afwijking van de nervus vestibularis CANDIDATE -en nl HP:0011393 rdfs:label Aplasia of the vestibular nerve Aplasie van de nervus vestibularis CANDIDATE -en nl HP:0011393 IAO:0000115 Absence of the vestibular nerve Absence of the vestibular nerve NOT_TRANSLATED -en nl HP:0011394 rdfs:label Hypoplasia of the vestibular nerve Hypoplasie van de nervus vestibularis CANDIDATE -en nl HP:0011394 IAO:0000115 Underdevelopment of the vestibular nerve Underdevelopment of the vestibular nerve NOT_TRANSLATED -en nl HP:0011395 rdfs:label Aplasia/Hypoplasia of the cochlea Aplasia/Hypoplasie van de cochlea CANDIDATE -en nl HP:0011395 IAO:0000115 Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect NOT_TRANSLATED -en nl HP:0011396 rdfs:label Abnormality of the cochlear nerve Afwijking van de nervus cochlearis CANDIDATE -en nl HP:0011397 rdfs:label Abnormality of the dorsal column of the spinal cord Afwijking van de dorsale kolom van het ruggenmerg CANDIDATE -en nl HP:0011397 IAO:0000115 An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus NOT_TRANSLATED -en nl HP:0011399 rdfs:label Tibialis anterior muscle atrophy Tibialis atrofie CANDIDATE -en nl HP:0011399 IAO:0000115 Wasting of the tibialis anterior muscle Wasting of the tibialis anterior muscle NOT_TRANSLATED -en nl HP:0011400 rdfs:label Abnormal CNS myelination Afwijkende CNZ myelinisering CANDIDATE -en nl HP:0011400 IAO:0000115 An abnormality of myelination of nerves in the central nervous system An abnormality of myelination of nerves in the central nervous system NOT_TRANSLATED -en nl HP:0011401 rdfs:label Delayed peripheral myelination Vertraagde perifere myelinisatie CANDIDATE -en nl HP:0011401 IAO:0000115 Delayed myelination in the peripheral nervous system Delayed myelination in the peripheral nervous system NOT_TRANSLATED -en nl HP:0011402 rdfs:label Demyelinating sensory neuropathy Demyeliniserende sensorische neuropathie CANDIDATE -en nl HP:0011402 IAO:0000115 Demyelination of peripheral sensory nerves Demyelination of peripheral sensory nerves NOT_TRANSLATED -en nl HP:0011403 rdfs:label Abnormal umbilical cord blood vessel morphology Afwijkende navelstreng bloedvaten CANDIDATE -en nl HP:0011404 rdfs:label Lethal short-trunk short stature Lethale korte-romp kleine lengte CANDIDATE -en nl HP:0011404 IAO:0000115 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth NOT_TRANSLATED -en nl HP:0011405 rdfs:label Childhood onset short-limb short stature Childhood-onset van korte-ledemaat kleine lengte CANDIDATE -en nl HP:0011406 rdfs:label Infancy onset short-trunk short stature Infancy onset van korte-romp kleine lengte CANDIDATE -en nl HP:0011406 IAO:0000115 A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy NOT_TRANSLATED -en nl HP:0011407 rdfs:label Proportionate tall stature Geproportionele lange lengte CANDIDATE -en nl HP:0011408 rdfs:label Moderate intrauterine growth retardation Matige intra-uteriene groeiretardatie CANDIDATE -en nl HP:0011408 IAO:0000115 Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age NOT_TRANSLATED -en nl HP:0011409 rdfs:label Abnormal placental membrane morphology Afwijking van placenta membranen CANDIDATE -en nl HP:0011409 IAO:0000115 Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix NOT_TRANSLATED -en nl HP:0011410 rdfs:label Caesarian section Sectio caesarea CANDIDATE -en nl HP:0011410 IAO:0000115 Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy) Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy) NOT_TRANSLATED -en nl HP:0011411 rdfs:label Forceps delivery Forceps bevalling CANDIDATE -en nl HP:0011412 rdfs:label Ventouse delivery Vacuümextractie CANDIDATE -en nl HP:0011412 IAO:0000115 Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately NOT_TRANSLATED -en nl HP:0011413 rdfs:label Shoulder dystocia Schouderdystocie CANDIDATE -en nl HP:0011413 IAO:0000115 Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex NOT_TRANSLATED -en nl HP:0011414 rdfs:label Hydropic placenta Hydropische placenta CANDIDATE -en nl HP:0011414 IAO:0000115 An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement NOT_TRANSLATED -en nl HP:0011415 rdfs:label Calcified placenta Gecalcificeerde placenta CANDIDATE -en nl HP:0011416 rdfs:label Placental infarction Placenta-infarct CANDIDATE -en nl HP:0011417 rdfs:label Long umbilical cord Lange navelstreng CANDIDATE -en nl HP:0011417 IAO:0000115 Increased length of the umbilical cord Increased length of the umbilical cord NOT_TRANSLATED -en nl HP:0011418 rdfs:label Abnormal insertion of umbilical cord Afwijkende insertie van de navelstreng CANDIDATE -en nl HP:0011418 IAO:0000115 Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta NOT_TRANSLATED -en nl HP:0011419 rdfs:label Placental abruption Placentaloslating CANDIDATE -en nl HP:0011419 IAO:0000115 Separation of the placenta from the uterus wall before delivery Separation of the placenta from the uterus wall before delivery NOT_TRANSLATED -en nl HP:0011420 rdfs:label Age of death Leeftijd van overlijden CANDIDATE -en nl HP:0011420 IAO:0000115 The age group when the cessation of life happens The age group when the cessation of life happens NOT_TRANSLATED -en nl HP:0011421 rdfs:label Death in adolescence Dood in adolescentie CANDIDATE -en nl HP:0011421 IAO:0000115 Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years) Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years) NOT_TRANSLATED -en nl HP:0011422 rdfs:label Abnormal blood chloride concentration Afwijking van chloride homeostase CANDIDATE -en nl HP:0011422 IAO:0000115 An abnormality of chloride homeostasis or concentration in the body An abnormality of chloride homeostasis or concentration in the body NOT_TRANSLATED -en nl HP:0011423 rdfs:label Hyperchloremia Hyperchloremie CANDIDATE -en nl HP:0011423 IAO:0000115 An abnormally increased chloride concentration in the blood An abnormally increased chloride concentration in the blood NOT_TRANSLATED -en nl HP:0011424 rdfs:label Increased serum zinc Verhoogd serum zink CANDIDATE -en nl HP:0011424 IAO:0000115 An increased consentration of zinc in the blood An increased consentration of zinc in the blood NOT_TRANSLATED -en nl HP:0011425 rdfs:label Fetal ultrasound soft marker Foetale echo zachte marker CANDIDATE -en nl HP:0011425 IAO:0000115 An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders NOT_TRANSLATED -en nl HP:0011426 rdfs:label Fetal choroid plexus cysts Foetale choroid plexus cyste CANDIDATE -en nl HP:0011426 IAO:0000115 Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637) Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637) NOT_TRANSLATED -en nl HP:0011427 rdfs:label Enlarged fetal cisterna magna Vergrote foetale cisterna magna CANDIDATE -en nl HP:0011427 IAO:0000115 The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637) The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637) NOT_TRANSLATED -en nl HP:0011428 rdfs:label Short fetal femur length Korte foetale femur lengte CANDIDATE -en nl HP:0011428 IAO:0000115 A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) NOT_TRANSLATED -en nl HP:0011429 rdfs:label Short fetal humerus length Korte foetale humerus lengte CANDIDATE -en nl HP:0011429 IAO:0000115 A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) NOT_TRANSLATED -en nl HP:0011430 rdfs:label Hypoplasia of fetal nasal bone Hypoplasia of fetal nasal bone NOT_TRANSLATED -en nl HP:0011430 IAO:0000115 On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637) On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637) NOT_TRANSLATED -en nl HP:0011431 rdfs:label Fetal fifth finger clinodactyly Foetale vijfde vinger clinodactylie CANDIDATE -en nl HP:0011431 IAO:0000115 Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637) Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637) NOT_TRANSLATED -en nl HP:0011432 rdfs:label High maternal circulating alpha-fetoprotein concentration Hoog maternaal serum alfafoetoproteïne CANDIDATE -en nl HP:0011432 IAO:0000115 Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy NOT_TRANSLATED -en nl HP:0011433 rdfs:label High maternal circulating chorionic gonadotropin concentration Hoog maternaal serum choriongonadotrofine CANDIDATE -en nl HP:0011433 IAO:0000115 An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age NOT_TRANSLATED -en nl HP:0011434 rdfs:label Low maternal circulating chorionic gonadotropin concentration Laag maternaal serum choriongonadotrofine CANDIDATE -en nl HP:0011434 IAO:0000115 An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age NOT_TRANSLATED -en nl HP:0011435 rdfs:label Low maternal circulating PAPP-A concentration Laag maternaal serum PAPP-A CANDIDATE -en nl HP:0011435 IAO:0000115 An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age NOT_TRANSLATED -en nl HP:0011436 rdfs:label Abnormal maternal serum screening Afwijkende maternale serum screening CANDIDATE -en nl HP:0011436 IAO:0000115 An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy NOT_TRANSLATED -en nl HP:0011437 rdfs:label Maternal autoimmune disease Maternale auto-immuunziekte CANDIDATE -en nl HP:0011437 IAO:0000115 A medical history of a fetus or child born to a mother with an autoimmune disease A medical history of a fetus or child born to a mother with an autoimmune disease NOT_TRANSLATED -en nl HP:0011438 rdfs:label Maternal teratogenic exposure Maternale teratogene blootstelling CANDIDATE -en nl HP:0011438 IAO:0000115 A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy NOT_TRANSLATED -en nl HP:0011439 rdfs:label Anesthetic-induced rhabdomylosis Door anesthetica geïnduceerde rhabdomyolyse CANDIDATE -en nl HP:0011439 IAO:0000115 Rhabdomyolysis induced by anesthesia Rhabdomyolysis induced by anesthesia NOT_TRANSLATED -en nl HP:0011440 rdfs:label Alcohol-induced rhabdomyolysis Door alcohol geïnduceerde rhabdomyolyse CANDIDATE -en nl HP:0011440 IAO:0000115 Rhabdomyolysis induced by intake of alcohol Rhabdomyolysis induced by intake of alcohol NOT_TRANSLATED -en nl HP:0011441 rdfs:label Abnormal medulla oblongata morphology Afwijking van de medulla oblongata CANDIDATE -en nl HP:0011441 IAO:0000115 An abnormality of the medulla oblongata, the lower half of the brainstem An abnormality of the medulla oblongata, the lower half of the brainstem NOT_TRANSLATED -en nl HP:0011442 rdfs:label Abnormal central motor function Afwijking van de centrale motorische functie CANDIDATE -en nl HP:0011442 IAO:0000115 An anomaly of the control or production of movement in the central nervous system An anomaly of the control or production of movement in the central nervous system NOT_TRANSLATED -en nl HP:0011443 rdfs:label Abnormality of coordination Afwijking van coördinatie CANDIDATE -en nl HP:0011444 rdfs:label Decorticate rigidity Decorticate rigidity NOT_TRANSLATED -en nl HP:0011444 IAO:0000115 A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus NOT_TRANSLATED -en nl HP:0011445 rdfs:label Athetoid cerebral palsy Athetoïde cerebrale parese CANDIDATE -en nl HP:0011445 IAO:0000115 A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone NOT_TRANSLATED -en nl HP:0011446 rdfs:label Abnormality of higher mental function Afwijking van hogere mentale functie CANDIDATE -en nl HP:0011446 IAO:0000115 Cognitive, psychiatric or memory anomaly Cognitive, psychiatric or memory anomaly NOT_TRANSLATED -en nl HP:0011447 rdfs:label Hyposegmentation of neutrophil nuclei Hyposegmentatie van neutrofielkernen CANDIDATE -en nl HP:0011447 IAO:0000115 Hyposegmented (hypolobulated) or bilobed neutrophil nuclei Hyposegmented (hypolobulated) or bilobed neutrophil nuclei NOT_TRANSLATED -en nl HP:0011448 rdfs:label Ankle clonus Enkel clonus CANDIDATE -en nl HP:0011448 IAO:0000115 Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward NOT_TRANSLATED -en nl HP:0011449 rdfs:label Knee clonus Knie clonus CANDIDATE -en nl HP:0011449 IAO:0000115 Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes NOT_TRANSLATED -en nl HP:0011450 rdfs:label Unusual CNS infection CNZ infectie CANDIDATE -en nl HP:0011450 IAO:0000115 A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection NOT_TRANSLATED -en nl HP:0011451 rdfs:label Primary microcephaly Congenitale microcefalie CANDIDATE -en nl HP:0011451 IAO:0000115 Head circumference below 2 standard deviations below the mean for age and gender at birth Microcefalie (HP:0000252) die reeds aanwezig is bij geboorte CANDIDATE -en nl HP:0011452 rdfs:label Functional abnormality of the middle ear Functionele afwijking van het middenoor CANDIDATE -en nl HP:0011452 IAO:0000115 An abnormality of the function of the middle ear An abnormality of the function of the middle ear NOT_TRANSLATED -en nl HP:0011453 rdfs:label Abnormality of the incus Afwijking van de incus CANDIDATE -en nl HP:0011453 IAO:0000115 An abnormality of the incus, an ossicle in the middle ear An abnormality of the incus, an ossicle in the middle ear NOT_TRANSLATED -en nl HP:0011454 rdfs:label Abnormality of the malleus Afwijking van de malleus CANDIDATE -en nl HP:0011454 IAO:0000115 An abnormality of the malleus, an ossicle in the middle ear An abnormality of the malleus, an ossicle in the middle ear NOT_TRANSLATED -en nl HP:0011455 rdfs:label Absent malleus Afwezige malleus CANDIDATE -en nl HP:0011455 IAO:0000115 Aplasia of the malleus Aplasia of the malleus NOT_TRANSLATED -en nl HP:0011456 rdfs:label Absent stapes Afwezig stapes CANDIDATE -en nl HP:0011456 IAO:0000115 Aplasia of the stapes Aplasia of the stapes NOT_TRANSLATED -en nl HP:0011457 rdfs:label Loss of eyelashes Verlies van wimpers CANDIDATE -en nl HP:0011457 IAO:0000115 This term refers to the loss of eyelashes that were previously present This term refers to the loss of eyelashes that were previously present NOT_TRANSLATED -en nl HP:0011458 rdfs:label Abdominal symptom Abdominale symptomen CANDIDATE -en nl HP:0011458 IAO:0000115 A subjective manifestation of disease localized to the abdomen A subjective manifestation of disease localized to the abdomen NOT_TRANSLATED -en nl HP:0011459 rdfs:label Esophageal carcinoma Oesofageaal carcinoom CANDIDATE -en nl HP:0011459 IAO:0000115 The presence of a carcinoma of the esophagus The presence of a carcinoma of the esophagus NOT_TRANSLATED -en nl HP:0011460 rdfs:label Embryonal onset Embryonale onset CANDIDATE -en nl HP:0011460 IAO:0000115 Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation) Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation) NOT_TRANSLATED -en nl HP:0011461 rdfs:label Fetal onset Foetale onset CANDIDATE -en nl HP:0011461 IAO:0000115 Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks) Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks) NOT_TRANSLATED -en nl HP:0011462 rdfs:label Young adult onset Young adult onset CANDIDATE -en nl HP:0011462 IAO:0000115 Onset of disease at the age of between 16 and 40 years Onset of disease at the age of between 16 and 40 years NOT_TRANSLATED -en nl HP:0011463 rdfs:label Childhood onset Childhood onset CANDIDATE -en nl HP:0011463 IAO:0000115 Onset of disease at the age of between 1 and 5 years Onset of disease at the age of between 1 and 5 years NOT_TRANSLATED -en nl HP:0011464 rdfs:label Aganglionosis of the small intestine Aganglionose van de dunne darm CANDIDATE -en nl HP:0011464 IAO:0000115 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine NOT_TRANSLATED -en nl HP:0011465 rdfs:label Duodenal aganglionosis Duodenale aganglionose CANDIDATE -en nl HP:0011465 IAO:0000115 A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum NOT_TRANSLATED -en nl HP:0011466 rdfs:label Aplasia/Hypoplasia of the gallbladder Aplasia/Hypoplasie van de galblaas CANDIDATE -en nl HP:0011466 IAO:0000115 Absence or underdevelopment of the gallbladder Absence or underdevelopment of the gallbladder NOT_TRANSLATED -en nl HP:0011467 rdfs:label Absent gallbladder Afwezige galblaas CANDIDATE -en nl HP:0011467 IAO:0000115 A developmental defect in which the gallbladder fails to form A developmental defect in which the gallbladder fails to form NOT_TRANSLATED -en nl HP:0011468 rdfs:label Facial tics Faciale tics CANDIDATE -en nl HP:0011468 IAO:0000115 Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face NOT_TRANSLATED -en nl HP:0011469 rdfs:label Nasal regurgitation Nasale regurgitatie CANDIDATE -en nl HP:0011469 IAO:0000115 Regurgitation of milk through the nose Regurgitation of milk through the nose NOT_TRANSLATED -en nl HP:0011470 rdfs:label Nasogastric tube feeding in infancy Nasogastrische sondevoeding in zuigelingenperiode CANDIDATE -en nl HP:0011470 IAO:0000115 Feeding problem necessitating nasogastric tube feeding Feeding problem necessitating nasogastric tube feeding NOT_TRANSLATED -en nl HP:0011471 rdfs:label Gastrostomy tube feeding in infancy Gastrostomie sondevoeding in zuigelingenperiode CANDIDATE -en nl HP:0011471 IAO:0000115 Feeding problem necessitating gastrostomy tube feeding Feeding problem necessitating gastrostomy tube feeding NOT_TRANSLATED -en nl HP:0011472 rdfs:label Abnormality of small intestinal villus morphology Afwijking van dunne darm villi morfologie CANDIDATE -en nl HP:0011473 rdfs:label Villous atrophy Villeuze atrofie CANDIDATE -en nl HP:0011473 IAO:0000115 The enteric villi are atrophic or absent The enteric villi are atrophic or absent NOT_TRANSLATED -en nl HP:0011474 rdfs:label Childhood onset sensorineural hearing impairment Childhood onset perceptieve slechthorendheid CANDIDATE -en nl HP:0011474 IAO:0000115 Sensorineural hearing impairment with childhood onset Sensorineural hearing impairment with childhood onset NOT_TRANSLATED -en nl HP:0011475 rdfs:label Persistent stapedial artery Persistent stapedial artery NOT_TRANSLATED -en nl HP:0011475 IAO:0000115 Persistence of the stapedial artery, which normally regresses during embryonic life Persistence of the stapedial artery, which normally regresses during embryonic life NOT_TRANSLATED -en nl HP:0011476 rdfs:label Profound sensorineural hearing impairment Ernstige perceptieve slechthorendheid CANDIDATE -en nl HP:0011476 IAO:0000115 Complete loss of hearing related to a sensorineural defect Complete loss of hearing related to a sensorineural defect NOT_TRANSLATED -en nl HP:0011477 rdfs:label Upbeat nystagmus Upbeat nystagmus NOT_TRANSLATED -en nl HP:0011477 IAO:0000115 In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient NOT_TRANSLATED -en nl HP:0011478 rdfs:label True anophthalmia Ware anoftalmie CANDIDATE -en nl HP:0011478 IAO:0000115 Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination NOT_TRANSLATED -en nl HP:0011479 rdfs:label Abnormal lacrimal punctum morphology Afwijkende punctum lacrimale morfologie CANDIDATE -en nl HP:0011479 IAO:0000115 An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid NOT_TRANSLATED -en nl HP:0011480 rdfs:label Unilateral microphthalmos Unilaterale microftalmie CANDIDATE -en nl HP:0011480 IAO:0000115 A developmental anomaly characterized by abnormal smallness of one eye A developmental anomaly characterized by abnormal smallness of one eye NOT_TRANSLATED -en nl HP:0011481 rdfs:label Abnormal lacrimal duct morphology Afwijkende traanbuis morfologie CANDIDATE -en nl HP:0011481 IAO:0000115 An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac NOT_TRANSLATED -en nl HP:0011482 rdfs:label Abnormal lacrimal gland morphology Afwijkende traanklier morfologie CANDIDATE -en nl HP:0011482 IAO:0000115 Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye NOT_TRANSLATED -en nl HP:0011483 rdfs:label Anterior synechiae of the anterior chamber Anterior synechiae of the anterior chamber NOT_TRANSLATED -en nl HP:0011483 IAO:0000115 Adhesions between the iris and the cornea Adhesions between the iris and the cornea NOT_TRANSLATED -en nl HP:0011484 rdfs:label Posterior synechiae of the anterior chamber Posterior synechiae of the anterior chamber NOT_TRANSLATED -en nl HP:0011484 IAO:0000115 Adhesions between the iris and the lens Adhesions between the iris and the lens NOT_TRANSLATED -en nl HP:0011485 rdfs:label Corneolenticular adhesion Corneolenticulaire adhesie CANDIDATE -en nl HP:0011485 IAO:0000115 Developmental abnormality in which the lens and cornea are not separated Developmental abnormality in which the lens and cornea are not separated NOT_TRANSLATED -en nl HP:0011486 rdfs:label Abnormality of corneal thickness Afwijking van de corneale dikte CANDIDATE -en nl HP:0011486 IAO:0000115 An abnormal anteroposterior thickness of the cornea An abnormal anteroposterior thickness of the cornea NOT_TRANSLATED -en nl HP:0011487 rdfs:label Increased corneal thickness Toegenomen corneale dikte CANDIDATE -en nl HP:0011487 IAO:0000115 A increased anteroposterior thickness of the cornea A increased anteroposterior thickness of the cornea NOT_TRANSLATED -en nl HP:0011488 rdfs:label Abnormal corneal endothelium morphology Afwijking van corneaal endotheel CANDIDATE -en nl HP:0011488 IAO:0000115 Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea NOT_TRANSLATED -en nl HP:0011489 rdfs:label Abnormal migration of corneal endothelium Afwijkende migratie van corneaal endotheel CANDIDATE -en nl HP:0011489 IAO:0000115 Abnormal migration of corneal endothelium Abnormal migration of corneal endothelium NOT_TRANSLATED -en nl HP:0011490 rdfs:label Abnormal Descemet membrane morphology Afwijking van de membraan van Descemet CANDIDATE -en nl HP:0011490 IAO:0000115 Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium NOT_TRANSLATED -en nl HP:0011491 rdfs:label Reduced number of corneal endothelial cells Verminderd aantal corneale endotheliale cellen CANDIDATE -en nl HP:0011491 IAO:0000115 A reduction in the number of corneal endothelial cells A reduction in the number of corneal endothelial cells NOT_TRANSLATED -en nl HP:0011492 rdfs:label Abnormal corneal stroma morphology Afwijking van corneale stroma CANDIDATE -en nl HP:0011492 IAO:0000115 An abnormality of the stroma of cornea, also known as the substantia propria of cornea An abnormality of the stroma of cornea, also known as the substantia propria of cornea NOT_TRANSLATED -en nl HP:0011493 rdfs:label Central opacification of the cornea Centrale opacificatie van de cornea CANDIDATE -en nl HP:0011493 IAO:0000115 Reduced transparency of the central portion of the corneal stroma Reduced transparency of the central portion of the corneal stroma NOT_TRANSLATED -en nl HP:0011494 rdfs:label Generalized opacification of the cornea Gegeneraliseerde opacificatie van de cornea CANDIDATE -en nl HP:0011494 IAO:0000115 Generalized reduced transparency of the stroma of the cornea Generalized reduced transparency of the stroma of the cornea NOT_TRANSLATED -en nl HP:0011495 rdfs:label Abnormal corneal epithelium morphology Afwijking van corneaal epitheel CANDIDATE -en nl HP:0011495 IAO:0000115 Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea NOT_TRANSLATED -en nl HP:0011496 rdfs:label Corneal neovascularization Corneale neovascularisatie CANDIDATE -en nl HP:0011496 IAO:0000115 Ingrowth of new blood vessels into the cornea Ingrowth of new blood vessels into the cornea NOT_TRANSLATED -en nl HP:0011497 rdfs:label Iris neovascularization Iris neovascularisatie CANDIDATE -en nl HP:0011497 IAO:0000115 New growth of vessels on the surface of the iris New growth of vessels on the surface of the iris NOT_TRANSLATED -en nl HP:0011499 rdfs:label Mydriasis Mydriasis CANDIDATE -en nl HP:0011499 IAO:0000115 Abnormal dilatation of the iris Abnormal dilatation of the iris NOT_TRANSLATED -en nl HP:0011500 rdfs:label Polycoria Polycorie CANDIDATE -en nl HP:0011500 IAO:0000115 Multiple pupils Multiple pupils NOT_TRANSLATED -en nl HP:0011501 rdfs:label Anterior lenticonus Anterieure lenticonus CANDIDATE -en nl HP:0011501 IAO:0000115 A conical projection of the anterior surface of the lens, occurring as a developmental anomaly A conical projection of the anterior surface of the lens, occurring as a developmental anomaly NOT_TRANSLATED -en nl HP:0011502 rdfs:label Posterior lenticonus Posterieure lenticonus CANDIDATE -en nl HP:0011502 IAO:0000115 A conical projection of the posterior surface of the lens, occurring as a developmental anomaly A conical projection of the posterior surface of the lens, occurring as a developmental anomaly NOT_TRANSLATED -en nl HP:0011503 rdfs:label Aplasia of the fovea Aplasie van de fovea CANDIDATE -en nl HP:0011503 IAO:0000115 Congenital absence of the fovea Congenital absence of the fovea NOT_TRANSLATED -en nl HP:0011504 rdfs:label Bull's eye maculopathy Bull's eye maculopathie CANDIDATE -en nl HP:0011504 IAO:0000115 Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation NOT_TRANSLATED -en nl HP:0011505 rdfs:label Cystoid macular edema Cystoïd macula oedeem CANDIDATE -en nl HP:0011505 IAO:0000115 Cystoid macular edema (CME) is any type of macular edema that involves cyst formation Cystoid macular edema (CME) is any type of macular edema that involves cyst formation NOT_TRANSLATED -en nl HP:0011506 rdfs:label Choroidal neovascularization Choroïdale neovascularisatie CANDIDATE -en nl HP:0011506 IAO:0000115 Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye NOT_TRANSLATED -en nl HP:0011507 rdfs:label Macular flecks Macular flecks NOT_TRANSLATED -en nl HP:0011507 IAO:0000115 Pale often indistinct lesions of the macula Pale often indistinct lesions of the macula NOT_TRANSLATED -en nl HP:0011508 rdfs:label Macular hole Maculagat CANDIDATE -en nl HP:0011508 IAO:0000115 A macular hole is a small break in the macula, located in the center of the retina A macular hole is a small break in the macula, located in the center of the retina NOT_TRANSLATED -en nl HP:0011509 rdfs:label Macular hyperpigmentation Macula hyperpigmentatie CANDIDATE -en nl HP:0011509 IAO:0000115 Increased amount of pigmentation in the macula lutea Increased amount of pigmentation in the macula lutea NOT_TRANSLATED -en nl HP:0011510 rdfs:label Drusen Drusen CANDIDATE -en nl HP:0011510 IAO:0000115 Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye NOT_TRANSLATED -en nl HP:0011511 rdfs:label Macular schisis Maculaire schisis CANDIDATE -en nl HP:0011511 IAO:0000115 Splitting of the retina in the macular region Splitting of the retina in the macular region NOT_TRANSLATED -en nl HP:0011512 rdfs:label Hyperpigmentation of the fundus Hyperpigmentatie van de fundus CANDIDATE -en nl HP:0011512 IAO:0000115 Increased pigmentation of the fundus Increased pigmentation of the fundus NOT_TRANSLATED -en nl HP:0011513 rdfs:label Retinal cavernous angioma Retinaal caverneus angioom CANDIDATE -en nl HP:0011513 IAO:0000115 A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance NOT_TRANSLATED -en nl HP:0011514 rdfs:label Abnormality of binocular vision Afwijking van binoculair zien CANDIDATE -en nl HP:0011514 IAO:0000115 An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth NOT_TRANSLATED -en nl HP:0011515 rdfs:label Abnormal stereopsis Afwijkende binoculaire dispariteit CANDIDATE -en nl HP:0011515 IAO:0000115 Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head NOT_TRANSLATED -en nl HP:0011516 rdfs:label Achromatopsia Achromatopsie CANDIDATE -en nl HP:0011516 IAO:0000115 A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult NOT_TRANSLATED -en nl HP:0011517 rdfs:label Cone monochromacy Kegel monochromasie CANDIDATE -en nl HP:0011517 IAO:0000115 The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors NOT_TRANSLATED -en nl HP:0011518 rdfs:label Dichromacy Dichromasie CANDIDATE -en nl HP:0011518 IAO:0000115 Individuals affected by dichromacy possess only two types of cones, instead of three Individuals affected by dichromacy possess only two types of cones, instead of three NOT_TRANSLATED -en nl HP:0011519 rdfs:label Anomalous trichromacy Abnormale trichromasie CANDIDATE -en nl HP:0011519 IAO:0000115 Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones NOT_TRANSLATED -en nl HP:0011520 rdfs:label Deuteranomaly Deuteranomalie CANDIDATE -en nl HP:0011520 IAO:0000115 A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green NOT_TRANSLATED -en nl HP:0011521 rdfs:label Deuteranopia Deuteranopie CANDIDATE -en nl HP:0011521 IAO:0000115 Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green NOT_TRANSLATED -en nl HP:0011522 rdfs:label Protanopia Protanopie CANDIDATE -en nl HP:0011522 IAO:0000115 Blue and green cones only; no functional red cones Blue and green cones only; no functional red cones NOT_TRANSLATED -en nl HP:0011523 rdfs:label Iris cyst Iris cyste CANDIDATE -en nl HP:0011523 IAO:0000115 An iris cyst is composed of a single cell layer of epithelium and is filled with fluid An iris cyst is composed of a single cell layer of epithelium and is filled with fluid NOT_TRANSLATED -en nl HP:0011524 rdfs:label Iris melanoma Iris melanoom CANDIDATE -en nl HP:0011524 IAO:0000115 Malignant tumor of melanocytes affecting the iris Malignant tumor of melanocytes affecting the iris NOT_TRANSLATED -en nl HP:0011525 rdfs:label Iris nevus Iris naevus CANDIDATE -en nl HP:0011525 IAO:0000115 A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated NOT_TRANSLATED -en nl HP:0011526 rdfs:label Abnormality of lens shape Afwijking van vorm van lens CANDIDATE -en nl HP:0011526 IAO:0000115 An abnormal shape of the lens An abnormal shape of the lens NOT_TRANSLATED -en nl HP:0011527 rdfs:label Lentiglobus Lentiglobus CANDIDATE -en nl HP:0011527 IAO:0000115 Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging NOT_TRANSLATED -en nl HP:0011528 rdfs:label Solitary congenital hypertrophy of retinal pigment epithelium Solitaire congenitale hypertrofie van retina pigment epitheel CANDIDATE -en nl HP:0011528 IAO:0000115 Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance NOT_TRANSLATED -en nl HP:0011529 rdfs:label Multiple bilateral congenital hypertrophy of retinal pigment epithelium Multipele bilaterale congenitale hypertrofie van retina pigment epitheel CANDIDATE -en nl HP:0011529 IAO:0000115 Sharply demarcated hyperpigmentation which is congenital Sharply demarcated hyperpigmentation which is congenital NOT_TRANSLATED -en nl HP:0011530 rdfs:label Retinal hole Retinaal gat CANDIDATE -en nl HP:0011530 IAO:0000115 A small break in the retina A small break in the retina NOT_TRANSLATED -en nl HP:0011531 rdfs:label Vitritis Vitritis CANDIDATE -en nl HP:0011531 IAO:0000115 Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity NOT_TRANSLATED -en nl HP:0011532 rdfs:label Subretinal exudate Subretinaal exsudaat CANDIDATE -en nl HP:0011532 IAO:0000115 A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0011533 rdfs:label Snowflake vitreoretinal degeneration Snowflake vitreoretinal degeneration NOT_TRANSLATED -en nl HP:0011533 IAO:0000115 The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous NOT_TRANSLATED -en nl HP:0011534 rdfs:label Abnormal spatial orientation of the cardiac segments Abnormal spatial orientation of the cardiac segments NOT_TRANSLATED -en nl HP:0011534 IAO:0000115 Abnormality of the spatial relationship of the cardiac segments to other components of the heart Abnormality of the spatial relationship of the cardiac segments to other components of the heart NOT_TRANSLATED -en nl HP:0011535 rdfs:label Abnormal atrial arrangement Afwijkende atriale configuratie CANDIDATE -en nl HP:0011535 IAO:0000115 Abnormality of the spatial relationship of the atria to other components of the heart Abnormality of the spatial relationship of the atria to other components of the heart NOT_TRANSLATED -en nl HP:0011536 rdfs:label Right atrial isomerism Rechter atrium isomerisme CANDIDATE -en nl HP:0011536 IAO:0000115 Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest NOT_TRANSLATED -en nl HP:0011537 rdfs:label Left atrial isomerism Linker atrium isomerisme CANDIDATE -en nl HP:0011537 IAO:0000115 In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest NOT_TRANSLATED -en nl HP:0011538 rdfs:label Atrial situs inversus Atriale situs inversus CANDIDATE -en nl HP:0011538 IAO:0000115 Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side NOT_TRANSLATED -en nl HP:0011539 rdfs:label Atrial situs ambiguous Atriale situs ambiguus CANDIDATE -en nl HP:0011539 IAO:0000115 Common atrium without defining morphologic features Common atrium without defining morphologic features NOT_TRANSLATED -en nl HP:0011540 rdfs:label Congenitally corrected transposition of the great arteries Congenitale gecorrigeerde transpositie van de grote vaten CANDIDATE -en nl HP:0011540 IAO:0000115 The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta NOT_TRANSLATED -en nl HP:0011541 rdfs:label Criss-cross atrioventricular valves Criss-cross atrioventricular valves NOT_TRANSLATED -en nl HP:0011541 IAO:0000115 Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis NOT_TRANSLATED -en nl HP:0011542 rdfs:label Criss-cross atrioventricular valves with superior-inferior ventricles Criss-cross atrioventricular valves with superior-inferior ventricles NOT_TRANSLATED -en nl HP:0011542 IAO:0000115 Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side NOT_TRANSLATED -en nl HP:0011543 rdfs:label Superior-inferior ventricles without criss-cross atrioventricular valves Superior-inferior ventricles without criss-cross atrioventricular valves NOT_TRANSLATED -en nl HP:0011544 rdfs:label L-looping of the right ventricle L-looping of the right ventricle NOT_TRANSLATED -en nl HP:0011545 rdfs:label Abnormal connection of the cardiac segments Afwijkende verbinding van de cardiale segmenten CANDIDATE -en nl HP:0011545 IAO:0000115 A deviance in the normal connections between two cardiac segements A deviance in the normal connections between two cardiac segements NOT_TRANSLATED -en nl HP:0011546 rdfs:label Abnormal atrioventricular connection Afwjkende atrioventriculaire verbinding CANDIDATE -en nl HP:0011546 IAO:0000115 An abnormality of the circulatory connection between atria and ventricles An abnormality of the circulatory connection between atria and ventricles NOT_TRANSLATED -en nl HP:0011547 rdfs:label Absent left sided atrioventricular connection Afwezige linkszijdige atrioventriculaire verbinding CANDIDATE -en nl HP:0011547 IAO:0000115 A defect where there is no connection between the left atrium and left ventricle A defect where there is no connection between the left atrium and left ventricle NOT_TRANSLATED -en nl HP:0011548 rdfs:label Absent right sided atrioventricular connection Afwezige rechtszijdige atrioventriculaire verbinding CANDIDATE -en nl HP:0011548 IAO:0000115 A defect where there is no connection between the right atrium and right ventricle A defect where there is no connection between the right atrium and right ventricle NOT_TRANSLATED -en nl HP:0011549 rdfs:label Univentricular heart with absent left sided atrioventricular connection Univentriculair hart met afwezige linkszijdige atrioventriculaire verbinding CANDIDATE -en nl HP:0011550 rdfs:label Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection NOT_TRANSLATED -en nl HP:0011551 rdfs:label Right sided atrium to left ventricle and absent left sided atrioventricular connection Right sided atrium to left ventricle and absent left sided atrioventricular connection NOT_TRANSLATED -en nl HP:0011552 rdfs:label Ambiguous atrioventricular connection Dubbelzinnige atrioventriculaire verbinding CANDIDATE -en nl HP:0011552 IAO:0000115 With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle) With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle) NOT_TRANSLATED -en nl HP:0011553 rdfs:label Discordant atrioventricular connection Discordante atrioventriculaire verbinding CANDIDATE -en nl HP:0011553 IAO:0000115 Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart NOT_TRANSLATED -en nl HP:0011554 rdfs:label Double inlet atrioventricular connection Doulbe inlet atrioventriculaire verbinding CANDIDATE -en nl HP:0011554 IAO:0000115 The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve NOT_TRANSLATED -en nl HP:0011555 rdfs:label Double inlet left ventricle Double inlet-linkerventrikel CANDIDATE -en nl HP:0011555 IAO:0000115 The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual NOT_TRANSLATED -en nl HP:0011556 rdfs:label Double inlet right ventricle Double inlet rechterventrikel CANDIDATE -en nl HP:0011556 IAO:0000115 The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic NOT_TRANSLATED -en nl HP:0011557 rdfs:label Double inlet to single ventricle of indeterminate morphology Double outlet naar enkel ventrikel van onbepaalde morfologie CANDIDATE -en nl HP:0011557 IAO:0000115 The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle NOT_TRANSLATED -en nl HP:0011558 rdfs:label Double inlet to single ventricle with common atrioventricular orifice Double outlet naar enkel ventrikel met gemeenschappelijke atrioventriculaire opening CANDIDATE -en nl HP:0011559 rdfs:label Double inlet to single ventricle with two atrioventricular valves Double outlet naar enkel ventrikel met twee atrioventriculaire kleppen CANDIDATE -en nl HP:0011560 rdfs:label Mitral atresia Mitralisklep atresie CANDIDATE -en nl HP:0011560 IAO:0000115 A congenital defect with failure to open of the mitral valve orifice A congenital defect with failure to open of the mitral valve orifice NOT_TRANSLATED -en nl HP:0011561 rdfs:label Overriding atrioventricular valve Overrijdende atrioventriculaire klep CANDIDATE -en nl HP:0011561 IAO:0000115 An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect NOT_TRANSLATED -en nl HP:0011562 rdfs:label Straddling atrioventricular valve Straddling atrioventricular valve NOT_TRANSLATED -en nl HP:0011562 IAO:0000115 Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect NOT_TRANSLATED -en nl HP:0011563 rdfs:label Abnormal ventriculoarterial connection Afwijkende ventriculaire-arteriële verbinding CANDIDATE -en nl HP:0011563 IAO:0000115 An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta NOT_TRANSLATED -en nl HP:0011564 rdfs:label Mitral valve arcade Mitral valve arcade NOT_TRANSLATED -en nl HP:0011564 IAO:0000115 Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle NOT_TRANSLATED -en nl HP:0011565 rdfs:label Common atrium Gemeenschappelijk atrium CANDIDATE -en nl HP:0011565 IAO:0000115 Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections NOT_TRANSLATED -en nl HP:0011566 rdfs:label Cor triatriatum dexter Cor triatriatum dexter CANDIDATE -en nl HP:0011566 IAO:0000115 A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue NOT_TRANSLATED -en nl HP:0011567 rdfs:label Sinus venosus atrial septal defect Sinus venosus atriumseptumdefect CANDIDATE -en nl HP:0011567 IAO:0000115 An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting NOT_TRANSLATED -en nl HP:0011568 rdfs:label Double orifice mitral valve Dubbele opening mitralisklep CANDIDATE -en nl HP:0011568 IAO:0000115 The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue NOT_TRANSLATED -en nl HP:0011569 rdfs:label Cleft anterior mitral valve leaflet Cleft anterior mitral valve leaflet NOT_TRANSLATED -en nl HP:0011569 IAO:0000115 Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect NOT_TRANSLATED -en nl HP:0011570 rdfs:label Congenital mitral stenosis Congenitale mitralisstenose CANDIDATE -en nl HP:0011570 IAO:0000115 Mitral stenosis with congenital onset Mitral stenosis with congenital onset NOT_TRANSLATED -en nl HP:0011571 rdfs:label Parachute mitral valve Parachute mitral valve NOT_TRANSLATED -en nl HP:0011571 IAO:0000115 Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles NOT_TRANSLATED -en nl HP:0011572 rdfs:label Supramitral ring Supramitral ring NOT_TRANSLATED -en nl HP:0011572 IAO:0000115 A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve NOT_TRANSLATED -en nl HP:0011573 rdfs:label Hypoplastic tricuspid valve Hypoplastische tricuspidalisklep CANDIDATE -en nl HP:0011573 IAO:0000115 Congenital defect characterized by underdevelopment of the tricuspid valve Congenital defect characterized by underdevelopment of the tricuspid valve NOT_TRANSLATED -en nl HP:0011574 rdfs:label Imperforate atrioventricular valve Imperforate atrioventricular valve NOT_TRANSLATED -en nl HP:0011574 IAO:0000115 An atrioventricular valve that has failed to open (atretic) An atrioventricular valve that has failed to open (atretic) NOT_TRANSLATED -en nl HP:0011575 rdfs:label Imperforate tricuspid valve Imperforate tricuspid valve NOT_TRANSLATED -en nl HP:0011575 IAO:0000115 A tricuspid valve that has failed to open A tricuspid valve that has failed to open NOT_TRANSLATED -en nl HP:0011576 rdfs:label Intermediate atrioventricular canal defect Intermediair atrioventriculair kanaaldefect CANDIDATE -en nl HP:0011576 IAO:0000115 A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices NOT_TRANSLATED -en nl HP:0011577 rdfs:label Partial atrioventricular canal defect Partieel atrioventriculair kanaaldefect CANDIDATE -en nl HP:0011577 IAO:0000115 A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices NOT_TRANSLATED -en nl HP:0011578 rdfs:label Transitional atrioventricular canal defect Tranistioneel atrioventriculair kanaaldefect CANDIDATE -en nl HP:0011578 IAO:0000115 A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices NOT_TRANSLATED -en nl HP:0011579 rdfs:label Unbalanced atrioventricular canal defect Ongebalanceerd atrioventriculair kanaaldefect CANDIDATE -en nl HP:0011579 IAO:0000115 Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced) Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced) NOT_TRANSLATED -en nl HP:0011580 rdfs:label Short chordae tendineae of the mitral valve Korte chordae tendineae van de mitralisklep CANDIDATE -en nl HP:0011580 IAO:0000115 Abnormally short chordae tendineae of the mitral valve Abnormally short chordae tendineae of the mitral valve NOT_TRANSLATED -en nl HP:0011581 rdfs:label Double outlet left ventricle Double outlet-linkerventrikel CANDIDATE -en nl HP:0011581 IAO:0000115 A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle NOT_TRANSLATED -en nl HP:0011582 rdfs:label Abdominal ectopia cordis Abdominale ectopia cordis CANDIDATE -en nl HP:0011582 IAO:0000115 Displacement of the heart outside the thoracic cavity and into the abdomen Displacement of the heart outside the thoracic cavity and into the abdomen NOT_TRANSLATED -en nl HP:0011583 rdfs:label Cervical ectopia cordis Cervicale ectopia cordis CANDIDATE -en nl HP:0011583 IAO:0000115 A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum NOT_TRANSLATED -en nl HP:0011584 rdfs:label Thoracocervical ectopia cordis Thoracocervicale ectopia cordis CANDIDATE -en nl HP:0011584 IAO:0000115 A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum NOT_TRANSLATED -en nl HP:0011585 rdfs:label Thoracic ectopia cordis Thoracale ectopia cordis CANDIDATE -en nl HP:0011585 IAO:0000115 Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum NOT_TRANSLATED -en nl HP:0011586 rdfs:label Thoracoabdominal ectopia cordis Thoracoabdominale ectopia cordis CANDIDATE -en nl HP:0011586 IAO:0000115 Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity NOT_TRANSLATED -en nl HP:0011587 rdfs:label Abnormal branching pattern of the aortic arch Afwijkend vertakkingspatroon van aortaboog CANDIDATE -en nl HP:0011587 IAO:0000115 A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries NOT_TRANSLATED -en nl HP:0011588 rdfs:label Cervical aortic arch Cervicale aortaboog CANDIDATE -en nl HP:0011588 IAO:0000115 The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta NOT_TRANSLATED -en nl HP:0011589 rdfs:label Common origin of the right brachiocephalic artery and left common carotid artery Gemeenschappelijke oorsprong van de rechter truncus brachiocephalicus en linker arteria carotis communis CANDIDATE -en nl HP:0011589 IAO:0000115 The left common carotid artery has a common origin with the innominate artery The left common carotid artery has a common origin with the innominate artery NOT_TRANSLATED -en nl HP:0011590 rdfs:label Double aortic arch Dubbele aortaboog CANDIDATE -en nl HP:0011590 IAO:0000115 A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor) A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor) NOT_TRANSLATED -en nl HP:0011591 rdfs:label Left aortic arch with cervical origin of the right subclavian artery Linker aortaboog met cervicale oorsprong van de rechter arteria subclavia CANDIDATE -en nl HP:0011592 rdfs:label Left aortic arch with isolated subclavian artery Linker aortaboog met geïsoleerde arteria subclavia CANDIDATE -en nl HP:0011592 IAO:0000115 The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis NOT_TRANSLATED -en nl HP:0011593 rdfs:label Left aortic arch with retroesophageal diverticulum of Kommerell Linker aortaboog met retro-oesofageaal divertikel van Kommerell CANDIDATE -en nl HP:0011593 IAO:0000115 A patent ductus arteriosus or ductal ligament completes the ring A patent ductus arteriosus or ductal ligament completes the ring NOT_TRANSLATED -en nl HP:0011594 rdfs:label Right aortic arch with retroesophageal diverticulum of Kommerell Rechter aortaboog met retro-oesofageaal divertikel van Kommerell CANDIDATE -en nl HP:0011594 IAO:0000115 Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch NOT_TRANSLATED -en nl HP:0011595 rdfs:label Left aortic arch with retroesophageal right subclavian artery Linker aortaboog met retro-oesofageale rechter arteria subclavia CANDIDATE -en nl HP:0011595 IAO:0000115 Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body NOT_TRANSLATED -en nl HP:0011596 rdfs:label Left aortic arch with right descending aorta and right ductus arteriosus Linker aortaboog met rechts descenderende aorta en rechter ductus arteriosus CANDIDATE -en nl HP:0011596 IAO:0000115 The ring may be completed by the ductal ligament The ring may be completed by the ductal ligament NOT_TRANSLATED -en nl HP:0011597 rdfs:label Right aortic arch with left descending aorta and left ductus arteriosus Rechter aortaboog met links descenderende aorta en linker ductus arteriosus CANDIDATE -en nl HP:0011598 rdfs:label Right aortic arch with retroesophageal left subclavian artery Rechter aortaboog met retro-oesofageale linker arteria subclavia CANDIDATE -en nl HP:0011599 rdfs:label Mesocardia Mesocardie CANDIDATE -en nl HP:0011599 IAO:0000115 Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane NOT_TRANSLATED -en nl HP:0011600 rdfs:label Abnormal direction of ventricular apex Afwijkende richting van ventriculaire apex CANDIDATE -en nl HP:0011600 IAO:0000115 Abnormal plane of direction of the heart from the base to the apex. Left sided is normal Abnormal plane of direction of the heart from the base to the apex. Left sided is normal NOT_TRANSLATED -en nl HP:0011601 rdfs:label Rightward direction of ventricular apex Rechter richting van ventriculaire apex CANDIDATE -en nl HP:0011601 IAO:0000115 Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal NOT_TRANSLATED -en nl HP:0011602 rdfs:label Midline direction of ventricular apex Middellijn richting van ventriculaire apex CANDIDATE -en nl HP:0011602 IAO:0000115 Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal NOT_TRANSLATED -en nl HP:0011603 rdfs:label Congenital malformation of the great arteries Congenitale misvorming van de grote slagaders CANDIDATE -en nl HP:0011603 IAO:0000115 Defect or defects of the morphogenesis of the aorta and pulmonary arteries Defect or defects of the morphogenesis of the aorta and pulmonary arteries NOT_TRANSLATED -en nl HP:0011604 rdfs:label Aortopulmonary window Aortopulmonale venster CANDIDATE -en nl HP:0011604 IAO:0000115 A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt NOT_TRANSLATED -en nl HP:0011605 rdfs:label Congenitally corrected transposition of the great arteries with ventricular septal defect Congenitaal gecorrigeerde transpositie van de grote slagaders met ventriculair septal defect CANDIDATE -en nl HP:0011605 IAO:0000115 A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum NOT_TRANSLATED -en nl HP:0011608 rdfs:label Type II truncus arteriosus Type II truncus arteriosus CANDIDATE -en nl HP:0011608 IAO:0000115 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus NOT_TRANSLATED -en nl HP:0011609 rdfs:label Type III truncus arteriosus Type III truncus arteriosus CANDIDATE -en nl HP:0011609 IAO:0000115 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta NOT_TRANSLATED -en nl HP:0011610 rdfs:label Type IV truncus arteriosus Type IV truncus arteriosus CANDIDATE -en nl HP:0011610 IAO:0000115 Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present NOT_TRANSLATED -en nl HP:0011611 rdfs:label Interrupted aortic arch Onderbroken aortaboog CANDIDATE -en nl HP:0011611 IAO:0000115 Non-continuity of the arch of aorta with an atretic point or absent segment Non-continuity of the arch of aorta with an atretic point or absent segment NOT_TRANSLATED -en nl HP:0011612 rdfs:label Interrupted aortic arch type A Onderbroken aortaboog type A CANDIDATE -en nl HP:0011612 IAO:0000115 Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus NOT_TRANSLATED -en nl HP:0011613 rdfs:label Interrupted aortic arch type B Onderbroken aortaboog typeB CANDIDATE -en nl HP:0011613 IAO:0000115 Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries NOT_TRANSLATED -en nl HP:0011614 rdfs:label Interrupted aortic arch type C Onderbroken aortaboog type C CANDIDATE -en nl HP:0011614 IAO:0000115 Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries NOT_TRANSLATED -en nl HP:0011615 rdfs:label Abnormal pulmonary situs morphology Abnormale pulmonale situs morfologie CANDIDATE -en nl HP:0011615 IAO:0000115 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi NOT_TRANSLATED -en nl HP:0011616 rdfs:label Pulmonary situs inversus Pulmonale situs inversus CANDIDATE -en nl HP:0011616 IAO:0000115 Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus NOT_TRANSLATED -en nl HP:0011617 rdfs:label Pulmonary situs ambiguus Pulmonale situs ambiguus CANDIDATE -en nl HP:0011617 IAO:0000115 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same NOT_TRANSLATED -en nl HP:0011618 rdfs:label Pulmonary situs ambiguus with bilateral morphologic right lungs Pulmonale situs ambiguus met bilaterale morfologische rechter longen CANDIDATE -en nl HP:0011618 IAO:0000115 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung NOT_TRANSLATED -en nl HP:0011619 rdfs:label Pulmonary situs ambiguus with bilateral morphologic left lungs Pulmonale situs ambiguus met bilaterale morfologische linker longen CANDIDATE -en nl HP:0011619 IAO:0000115 An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung NOT_TRANSLATED -en nl HP:0011620 rdfs:label Abnormality of abdominal situs Afwijking van de abdominale situs CANDIDATE -en nl HP:0011620 IAO:0000115 An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs NOT_TRANSLATED -en nl HP:0011621 rdfs:label Gerbode ventricular septal defect Gerbode ventrikelseptumdefect CANDIDATE -en nl HP:0011621 IAO:0000115 A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve NOT_TRANSLATED -en nl HP:0011622 rdfs:label Inlet ventricular septal defect Inlet ventrikelseptumdefect CANDIDATE -en nl HP:0011622 IAO:0000115 A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus NOT_TRANSLATED -en nl HP:0011623 rdfs:label Muscular ventricular septal defect Musculair ventrikelseptumdefect CANDIDATE -en nl HP:0011623 IAO:0000115 The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle NOT_TRANSLATED -en nl HP:0011624 rdfs:label Apical muscular ventricular septal defect Apicaal musculair ventrikelseptumdefect CANDIDATE -en nl HP:0011624 IAO:0000115 A muscular ventricular septal defect located at the apex of the heart A muscular ventricular septal defect located at the apex of the heart NOT_TRANSLATED -en nl HP:0011625 rdfs:label Multiple muscular ventricular septal defects Multipele musculaire ventrikelseptumdefecten CANDIDATE -en nl HP:0011625 IAO:0000115 A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum NOT_TRANSLATED -en nl HP:0011626 rdfs:label Scimitar anomaly Scimitar anomalie CANDIDATE -en nl HP:0011626 IAO:0000115 Right pulmonary venous return to the inferior vena cava Right pulmonary venous return to the inferior vena cava NOT_TRANSLATED -en nl HP:0011627 rdfs:label Aorto-ventricular tunnel Aorto-ventriculaire tunnel CANDIDATE -en nl HP:0011627 IAO:0000115 Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle NOT_TRANSLATED -en nl HP:0011628 rdfs:label Congenital defect of the pericardium Congenitaal defect van het pericardium CANDIDATE -en nl HP:0011628 IAO:0000115 A developmental defect of the pericardium with congenital onset A developmental defect of the pericardium with congenital onset NOT_TRANSLATED -en nl HP:0011629 rdfs:label Total absence of the pericardium Totale afwezigheid van het pericardium CANDIDATE -en nl HP:0011629 IAO:0000115 No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy NOT_TRANSLATED -en nl HP:0011630 rdfs:label Complete diaphragmatic absence of pericardium Totale diafragmatische afwezigheid van het pericardium CANDIDATE -en nl HP:0011630 IAO:0000115 No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart NOT_TRANSLATED -en nl HP:0011631 rdfs:label Complete right sided absence of pericardium Totale rechtszijdige afwezigheid van het pericardium CANDIDATE -en nl HP:0011631 IAO:0000115 No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy NOT_TRANSLATED -en nl HP:0011632 rdfs:label Partial right sided absence of pericardium Partiële rechtszijdige afwezigheid van het pericardium CANDIDATE -en nl HP:0011632 IAO:0000115 A congenital anomaly with lack of part of the pericardium on the righthand side of the heart A congenital anomaly with lack of part of the pericardium on the righthand side of the heart NOT_TRANSLATED -en nl HP:0011633 rdfs:label Complete left sided absence of pericardium Totale linkszijdige afwezigheid van het pericardium CANDIDATE -en nl HP:0011633 IAO:0000115 A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart NOT_TRANSLATED -en nl HP:0011634 rdfs:label Partial left sided absence of pericardium Partiële linkszijdige afwezigheid van het pericardium CANDIDATE -en nl HP:0011634 IAO:0000115 A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart NOT_TRANSLATED -en nl HP:0011635 rdfs:label Partial diaphragmatic absence of pericardium Partiële diafragmatische afwezigheid van het pericardium CANDIDATE -en nl HP:0011635 IAO:0000115 Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart NOT_TRANSLATED -en nl HP:0011636 rdfs:label Abnormal coronary artery origin Afwijkende oorsprong van coronairarterie CANDIDATE -en nl HP:0011636 IAO:0000115 Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries NOT_TRANSLATED -en nl HP:0011637 rdfs:label Anomalous origin of coronary artery from the pulmonary artery Afwijkende oorsprong van coronairarterie van de arteria pulmonalis CANDIDATE -en nl HP:0011637 IAO:0000115 A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta NOT_TRANSLATED -en nl HP:0011638 rdfs:label Anomalous origin of left coronary artery from the pulmonary artery Afwijkende oorsprong van linker coronairarterie van de arteria pulmonalis CANDIDATE -en nl HP:0011638 IAO:0000115 Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve NOT_TRANSLATED -en nl HP:0011639 rdfs:label Anomalous origin of right coronary artery from the pulmonary artery Afwijkende oorsprong van rechter coronairarterie van de arteria pulmonalis CANDIDATE -en nl HP:0011639 IAO:0000115 Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve NOT_TRANSLATED -en nl HP:0011640 rdfs:label Single coronary artery origin Enkele oorsprong van coronairarterie CANDIDATE -en nl HP:0011640 IAO:0000115 The presence of a single coronary artery ostium from which both coronary arteries arise The presence of a single coronary artery ostium from which both coronary arteries arise NOT_TRANSLATED -en nl HP:0011641 rdfs:label Coronary artery fistula Coronairarterie fistel CANDIDATE -en nl HP:0011641 IAO:0000115 A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel NOT_TRANSLATED -en nl HP:0011642 rdfs:label Abnormal coronary sinus morphology Afwijkende sinus coronarius morfologie CANDIDATE -en nl HP:0011642 IAO:0000115 An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium NOT_TRANSLATED -en nl HP:0011643 rdfs:label Coronary sinus atrial septal defect Sinus coronarius atriumseptumdefect CANDIDATE -en nl HP:0011643 IAO:0000115 An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus NOT_TRANSLATED -en nl HP:0011644 rdfs:label Coronary sinus diverticulum Sinus coronarius divertikel CANDIDATE -en nl HP:0011644 IAO:0000115 A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus NOT_TRANSLATED -en nl HP:0011645 rdfs:label Dilatation of the sinus of Valsalva Dilatatie van de sinus van Valsalva CANDIDATE -en nl HP:0011645 IAO:0000115 Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve NOT_TRANSLATED -en nl HP:0011646 rdfs:label Juxtaductal coarctation of the aorta Juxtaductale coarctatie van de aorta CANDIDATE -en nl HP:0011646 IAO:0000115 Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch NOT_TRANSLATED -en nl HP:0011647 rdfs:label Postductal coarctation of the aorta Postductale coarctatie van de aorta CANDIDATE -en nl HP:0011647 IAO:0000115 Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch NOT_TRANSLATED -en nl HP:0011648 rdfs:label Patent ductus arteriosus after birth at term Patente ductus arteriosus na à terme geboorte CANDIDATE -en nl HP:0011648 IAO:0000115 Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater NOT_TRANSLATED -en nl HP:0011649 rdfs:label Patent ductus arteriosus after premature birth Patente ductus arteriosus na premature geboorte CANDIDATE -en nl HP:0011649 IAO:0000115 Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation NOT_TRANSLATED -en nl HP:0011650 rdfs:label Bilateral ductus arteriosus Bilaterale ductus arteriosus CANDIDATE -en nl HP:0011650 IAO:0000115 The presence of both a left and a right ductus arteriosus The presence of both a left and a right ductus arteriosus NOT_TRANSLATED -en nl HP:0011651 rdfs:label Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis Double outlet rechterventrikel met doubly-commited ventrikelseptumdefect en pulmonale stenose CANDIDATE -en nl HP:0011651 IAO:0000115 A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011652 rdfs:label Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis Double outlet rechterventrikel met doubly-commited ventrikelseptumdefect zonder pulmonale stenose CANDIDATE -en nl HP:0011652 IAO:0000115 A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011653 rdfs:label Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis Double outlet rechterventrikel met niet-doubly-commited ventrikelseptumdefect en pulmonale stenose CANDIDATE -en nl HP:0011653 IAO:0000115 A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011654 rdfs:label Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis Double outlet rechterventrikel met niet-doubly-commited ventrikelseptumdefect zonder pulmonale stenose CANDIDATE -en nl HP:0011654 IAO:0000115 A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011655 rdfs:label Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis Double outlet rechterventrikel met subaortisch ventrikelseptumdefect en pulmonale stenose CANDIDATE -en nl HP:0011655 IAO:0000115 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011656 rdfs:label Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis Double outlet rechterventrikel met subaortisch ventrikelseptumdefect zonder pulmonale stenose CANDIDATE -en nl HP:0011656 IAO:0000115 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011657 rdfs:label Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis Double outlet rechterventrikel met subpulmonaal ventrikelseptumdefect en pulmonale stenose CANDIDATE -en nl HP:0011657 IAO:0000115 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011658 rdfs:label Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Double outlet rechterventrikel met subpulmonaal ventrikelseptumdefect zonder pulmonale stenose CANDIDATE -en nl HP:0011658 IAO:0000115 A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED -en nl HP:0011659 rdfs:label Tetralogy of Fallot with absent pulmonary valve Tetralogie van Fallot met afwezige pulmonalisklep CANDIDATE -en nl HP:0011659 IAO:0000115 Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue NOT_TRANSLATED -en nl HP:0011660 rdfs:label Anomalous origin of one pulmonary artery from ascending aorta Afwijkende oorsprong van één arteria pulmonalis van aorta ascendens CANDIDATE -en nl HP:0011660 IAO:0000115 Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle NOT_TRANSLATED -en nl HP:0011661 rdfs:label Anomalous origin of left pulmonary artery from ascending aorta Afwijkende oorsprong van linker arteria pulmonalis van aorta ascendens CANDIDATE -en nl HP:0011661 IAO:0000115 The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery NOT_TRANSLATED -en nl HP:0011662 rdfs:label Tricuspid atresia Tricuspidalis atresie CANDIDATE -en nl HP:0011662 IAO:0000115 Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle NOT_TRANSLATED -en nl HP:0011663 rdfs:label Right ventricular cardiomyopathy Rechter ventrikel cardiomyopathie CANDIDATE -en nl HP:0011663 IAO:0000115 Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease NOT_TRANSLATED -en nl HP:0011664 rdfs:label Left ventricular noncompaction cardiomyopathy Linker ventrikel non-compactie cardiomyopathie CANDIDATE -en nl HP:0011664 IAO:0000115 Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates NOT_TRANSLATED -en nl HP:0011665 rdfs:label Takotsubo cardiomyopathy Takotsubo cardiomyopathie CANDIDATE -en nl HP:0011665 IAO:0000115 Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation NOT_TRANSLATED -en nl HP:0011666 rdfs:label Absent right superior vena cava Afwijkende rechter vena cava superior CANDIDATE -en nl HP:0011666 IAO:0000115 Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium NOT_TRANSLATED -en nl HP:0011667 rdfs:label Bilateral superior vena cava with bridging vein Bilateral superior vena cava with bridging vein NOT_TRANSLATED -en nl HP:0011668 rdfs:label Bilateral superior vena cava with no bridging vein Bilateral superior vena cava with no bridging vein NOT_TRANSLATED -en nl HP:0011669 rdfs:label Left superior vena cava draining directly to the left atrium Linker vena cava superior drainerend direct op het linker atrium CANDIDATE -en nl HP:0011669 IAO:0000115 A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt NOT_TRANSLATED -en nl HP:0011670 rdfs:label Left superior vena cava draining to coronary sinus Linker vena cava superior drainerend direct de sinus coronarius CANDIDATE -en nl HP:0011670 IAO:0000115 A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence NOT_TRANSLATED -en nl HP:0011671 rdfs:label Interrupted inferior vena cava with azygous continuation Interrupted inferior vena cava with azygous continuation NOT_TRANSLATED -en nl HP:0011671 IAO:0000115 Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava NOT_TRANSLATED -en nl HP:0011672 rdfs:label Cardiac myxoma Cardiaal myxoom CANDIDATE -en nl HP:0011672 IAO:0000115 A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber NOT_TRANSLATED -en nl HP:0011673 rdfs:label Cardiac hemangioma Cardiaal hemangioom CANDIDATE -en nl HP:0011673 IAO:0000115 Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium NOT_TRANSLATED -en nl HP:0011674 rdfs:label Cardiac teratoma Cardiaal teratoom CANDIDATE -en nl HP:0011674 IAO:0000115 A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone NOT_TRANSLATED -en nl HP:0011675 rdfs:label Arrhythmia Arrhythmie CANDIDATE -en nl HP:0011675 IAO:0000115 Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both NOT_TRANSLATED -en nl HP:0011676 rdfs:label Tetralogy of Fallot with absent subarterial conus Tetralogie van Fallot met afwezige subarteriële conus CANDIDATE -en nl HP:0011677 rdfs:label Tetralogy of Fallot with atrioventricular canal defect Tetralogie van Fallot met atrioventriculair kanaaldefect CANDIDATE -en nl HP:0011678 rdfs:label Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries Tetralogie van Fallot met pulmonale atresie en grote aortopulmonale collaterale slagaders CANDIDATE -en nl HP:0011678 IAO:0000115 A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA) A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA) NOT_TRANSLATED -en nl HP:0011679 rdfs:label Tetralogy of Fallot with pulmonary stenosis Tetralogie van Fallot met pulmonalisstenose CANDIDATE -en nl HP:0011679 IAO:0000115 The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus NOT_TRANSLATED -en nl HP:0011680 rdfs:label Single ventricle of indeterminate morphology Één ventrikel van onbepaalde morfologie CANDIDATE -en nl HP:0011681 rdfs:label Subarterial ventricular septal defect Subarterieel ventrikelseptumdefect CANDIDATE -en nl HP:0011681 IAO:0000115 A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum NOT_TRANSLATED -en nl HP:0011682 rdfs:label Perimembranous ventricular septal defect Perimembraneus ventrikelseptumdefect CANDIDATE -en nl HP:0011682 IAO:0000115 A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs NOT_TRANSLATED -en nl HP:0011683 rdfs:label Restrictive ventricular septal defect Restrictief ventrikelseptumdefect CANDIDATE -en nl HP:0011683 IAO:0000115 Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD NOT_TRANSLATED -en nl HP:0011684 rdfs:label Non-restrictive ventricular septal defect Niet-restrictief ventrikelseptumdefect CANDIDATE -en nl HP:0011684 IAO:0000115 Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD NOT_TRANSLATED -en nl HP:0011685 rdfs:label Infra-aortic superior vena cava Infra-aorta vena cava superior CANDIDATE -en nl HP:0011685 IAO:0000115 The superior vena cava passes below the aortic arch The superior vena cava passes below the aortic arch NOT_TRANSLATED -en nl HP:0011686 rdfs:label Abnormal coronary artery course Afwijkend verloop van coronairarterie CANDIDATE -en nl HP:0011686 IAO:0000115 An abnormal path of a coronary artery An abnormal path of a coronary artery NOT_TRANSLATED -en nl HP:0011687 rdfs:label AV nodal tachycardia AV-knoop tachycardie CANDIDATE -en nl HP:0011687 IAO:0000115 A type of supraventricular tachycardia that originates in the atrioventricular node A type of supraventricular tachycardia that originates in the atrioventricular node NOT_TRANSLATED -en nl HP:0011688 rdfs:label Supraventricular tachycardia with an accessory connection mediated pathway Supraventricular tachycardia with an accessory connection mediated pathway NOT_TRANSLATED -en nl HP:0011688 IAO:0000115 Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism NOT_TRANSLATED -en nl HP:0011689 rdfs:label Supraventricular tachycardia with a concealed accessory connection Supraventricular tachycardia with a concealed accessory connection NOT_TRANSLATED -en nl HP:0011689 IAO:0000115 Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm NOT_TRANSLATED -en nl HP:0011690 rdfs:label Permanent junctional reciprocating tachycardia Permanent junctional reciprocating tachycardia NOT_TRANSLATED -en nl HP:0011690 IAO:0000115 An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction NOT_TRANSLATED -en nl HP:0011691 rdfs:label Supraventricular tachycardia with a concealed accessory pathway on the left free wall Supraventricular tachycardia with a concealed accessory pathway on the left free wall NOT_TRANSLATED -en nl HP:0011692 rdfs:label Supraventricular tachycardia with a concealed accessory pathway on the right free wall Supraventricular tachycardia with a concealed accessory pathway on the right free wall NOT_TRANSLATED -en nl HP:0011693 rdfs:label Supraventricular tachycardia with a concealed accessory pathway on the septum Supraventricular tachycardia with a concealed accessory pathway on the septum NOT_TRANSLATED -en nl HP:0011694 rdfs:label Supraventricular tachycardia with a manifest accessory pathway Supraventricular tachycardia with a manifest accessory pathway NOT_TRANSLATED -en nl HP:0011695 rdfs:label Cerebellar hemorrhage Cerebellaire bloeding CANDIDATE -en nl HP:0011695 IAO:0000115 Hemorrhage into the parenchyma of the cerebellum Hemorrhage into the parenchyma of the cerebellum NOT_TRANSLATED -en nl HP:0011696 rdfs:label Supraventricular tachycardia with a manifest accessory pathway on the left free wall Supraventricular tachycardia with a manifest accessory pathway on the left free wall NOT_TRANSLATED -en nl HP:0011697 rdfs:label Supraventricular tachycardia with a manifest accessory pathway on the right free wall Supraventricular tachycardia with a manifest accessory pathway on the right free wall NOT_TRANSLATED -en nl HP:0011698 rdfs:label Supraventricular tachycardia with a manifest accessory pathway on the septum Supraventricular tachycardia with a manifest accessory pathway on the septum NOT_TRANSLATED -en nl HP:0011699 rdfs:label Atrial reentry tachycardia Atriale re-entry tachycardie CANDIDATE -en nl HP:0011700 rdfs:label Automatic atrial tachycardia Automatische atriale tachycardie CANDIDATE -en nl HP:0011700 IAO:0000115 Chronic supraventricular tachycardia predominantly seen in childhood Chronic supraventricular tachycardia predominantly seen in childhood NOT_TRANSLATED -en nl HP:0011701 rdfs:label Multifocal atrial tachycardia Multifocale atriale tachycardie CANDIDATE -en nl HP:0011701 IAO:0000115 Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic NOT_TRANSLATED -en nl HP:0011702 rdfs:label Abnormal electrophysiology of sinoatrial node origin Afwijkende electrofysiologie van sinoatriale knoop oorsprong CANDIDATE -en nl HP:0011702 IAO:0000115 An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart NOT_TRANSLATED -en nl HP:0011703 rdfs:label Sinus tachycardia Sinus tachycardie CANDIDATE -en nl HP:0011703 IAO:0000115 Heart rate of greater than 100 beats per minute Heart rate of greater than 100 beats per minute NOT_TRANSLATED -en nl HP:0011704 rdfs:label Sick sinus syndrome Sick sinus syndroom CANDIDATE -en nl HP:0011704 IAO:0000115 An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress NOT_TRANSLATED -en nl HP:0011705 rdfs:label First degree atrioventricular block Eerstegraads atrioventriculair blok CANDIDATE -en nl HP:0011705 IAO:0000115 Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles NOT_TRANSLATED -en nl HP:0011706 rdfs:label Second degree atrioventricular block Tweedegraads atrioventriculair blok CANDIDATE -en nl HP:0011706 IAO:0000115 An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction NOT_TRANSLATED -en nl HP:0011707 rdfs:label Mobitz I atrioventricular block Mobitz I atrioventriculair blok CANDIDATE -en nl HP:0011707 IAO:0000115 Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals) Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals) NOT_TRANSLATED -en nl HP:0011708 rdfs:label Mobitz II atrioventricular block Mobitz II atrioventriculair blok CANDIDATE -en nl HP:0011708 IAO:0000115 A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval NOT_TRANSLATED -en nl HP:0011709 rdfs:label Atrioventricular dissociation Atrioventriculaire dissociatie CANDIDATE -en nl HP:0011709 IAO:0000115 Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance NOT_TRANSLATED -en nl HP:0011710 rdfs:label Bundle branch block Bundeltak blok CANDIDATE -en nl HP:0011710 IAO:0000115 Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches NOT_TRANSLATED -en nl HP:0011711 rdfs:label Left anterior fascicular block Linker anterior fasciculair blok CANDIDATE -en nl HP:0011711 IAO:0000115 Conduction block in the anterior division of the left bundle branch of the bundle of His Conduction block in the anterior division of the left bundle branch of the bundle of His NOT_TRANSLATED -en nl HP:0011712 rdfs:label Right bundle branch block Rechterbundeltakblok CANDIDATE -en nl HP:0011712 IAO:0000115 A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG NOT_TRANSLATED -en nl HP:0011713 rdfs:label Left bundle branch block Linkerbundeltakblok CANDIDATE -en nl HP:0011713 IAO:0000115 A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG NOT_TRANSLATED -en nl HP:0011714 rdfs:label Libman-Sacks lesions Libman-Sacks laesies CANDIDATE -en nl HP:0011714 IAO:0000115 Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve NOT_TRANSLATED -en nl HP:0011715 rdfs:label Trifascicular block Trifasciculair blok CANDIDATE -en nl HP:0011715 IAO:0000115 Abnormal conduction in all three divisions of the intraventricular conducting tissue Abnormal conduction in all three divisions of the intraventricular conducting tissue NOT_TRANSLATED -en nl HP:0011716 rdfs:label Junctional ectopic tachycardia Junctionele ectopische tachycardie CANDIDATE -en nl HP:0011716 IAO:0000115 Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern NOT_TRANSLATED -en nl HP:0011717 rdfs:label Atrioventricular reentrant tachycardia Atrioventriculaire re-entry tachycardie CANDIDATE -en nl HP:0011717 IAO:0000115 Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove NOT_TRANSLATED -en nl HP:0011718 rdfs:label Abnormality of the pulmonary veins Afwijking van de pulmonale venen CANDIDATE -en nl HP:0011718 IAO:0000115 An abnormality of the pulmonary veins An abnormality of the pulmonary veins NOT_TRANSLATED -en nl HP:0011719 rdfs:label Supracardiac total anomalous pulmonary venous connection Supracardiac total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011719 IAO:0000115 Type 1 total anomalous pulmonary venous connection Type 1 total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011720 rdfs:label Cardiac total anomalous pulmonary venous connection Cardiac total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011720 IAO:0000115 Type 2 total anomalous pulmonary venous connection Type 2 total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011721 rdfs:label Infracardiac total anomalous pulmonary venous connection Infracardiac total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011721 IAO:0000115 Type 3 total anomalous pulmonary venous connection Type 3 total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011722 rdfs:label Mixed total anomalous pulmonary venous connection Mixed total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011722 IAO:0000115 Type 4 total anomalous pulmonary venous connection Type 4 total anomalous pulmonary venous connection NOT_TRANSLATED -en nl HP:0011723 rdfs:label Congenital malformation of the right heart Congenitale malformatie van het rechter hart CANDIDATE -en nl HP:0011723 IAO:0000115 Defect or defects of the morphogenesis of the right heart identifiable at birth Defect or defects of the morphogenesis of the right heart identifiable at birth NOT_TRANSLATED -en nl HP:0011724 rdfs:label Uhl's anomaly Uhl-anomalie CANDIDATE -en nl HP:0011724 IAO:0000115 Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium NOT_TRANSLATED -en nl HP:0011725 rdfs:label Chaotic multifocal atrial tachycardia Chaotische multifocale atriale tachycardie CANDIDATE -en nl HP:0011726 rdfs:label Persistent fetal circulation Persisterende foetale circulatie CANDIDATE -en nl HP:0011726 IAO:0000115 Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course NOT_TRANSLATED -en nl HP:0011727 rdfs:label Peroneal muscle weakness Peroneale spierzwakte CANDIDATE -en nl HP:0011727 IAO:0000115 Weakness of the peroneal muscles Weakness of the peroneal muscles NOT_TRANSLATED -en nl HP:0011728 rdfs:label Elbow clonus Elleboog clonus CANDIDATE -en nl HP:0011728 IAO:0000115 Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint NOT_TRANSLATED -en nl HP:0011729 rdfs:label Abnormality of joint mobility Afwijking van het gewrichtsmobiliteit CANDIDATE -en nl HP:0011729 IAO:0000115 An abnormality in the range and ease of motion of joints across their normal range An abnormality in the range and ease of motion of joints across their normal range NOT_TRANSLATED -en nl HP:0011730 rdfs:label Abnormal central sensory function Afwijking van de centrale sensorische functie CANDIDATE -en nl HP:0011730 IAO:0000115 An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord NOT_TRANSLATED -en nl HP:0011731 rdfs:label Abnormality of circulating cortisol level Afwijking van circulerend cortisol-niveau CANDIDATE -en nl HP:0011731 IAO:0000115 An abnormality of the concentration of cortisol in the blood An abnormality of the concentration of cortisol in the blood NOT_TRANSLATED -en nl HP:0011732 rdfs:label Abnormality of adrenal morphology Afwijking van de bijnier morfologie CANDIDATE -en nl HP:0011732 IAO:0000115 Any structural anomaly of the adrenal glands Any structural anomaly of the adrenal glands NOT_TRANSLATED -en nl HP:0011733 rdfs:label Abnormality of adrenal physiology Afwijking van de bijnier fysiologie CANDIDATE -en nl HP:0011733 IAO:0000115 A functional abnormality of the adrenal glands A functional abnormality of the adrenal glands NOT_TRANSLATED -en nl HP:0011734 rdfs:label Central adrenal insufficiency Centrale bijnierinsufficiëntie CANDIDATE -en nl HP:0011734 IAO:0000115 A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected NOT_TRANSLATED -en nl HP:0011735 rdfs:label Adrenocorticotropin deficient adrenal insufficiency Bijnierinsufficiëntie vanwege adrenocorticotropine tekort CANDIDATE -en nl HP:0011735 IAO:0000115 Adrenal insufficiency secondary to a defect in ACTH production Adrenal insufficiency secondary to a defect in ACTH production NOT_TRANSLATED -en nl HP:0011736 rdfs:label Primary hyperaldosteronism Primair hyperaldosteronisme CANDIDATE -en nl HP:0011736 IAO:0000115 A form of hyperaldosteronism caused by a defect within the adrenal gland A form of hyperaldosteronism caused by a defect within the adrenal gland NOT_TRANSLATED -en nl HP:0011737 rdfs:label Corticotropin-releasing hormone deficient adrenal insufficiency Corticotropine-releasing-hormoon deficiënte bijnier insufficiëntie CANDIDATE -en nl HP:0011737 IAO:0000115 Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production NOT_TRANSLATED -en nl HP:0011738 rdfs:label Corticotropin-releasing hormone receptor defect Corticotropine-releasing hormoon receptor defect CANDIDATE -en nl HP:0011738 IAO:0000115 Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor NOT_TRANSLATED -en nl HP:0011739 rdfs:label Dexamethasone-suppressible primary hyperaldosteronism Dexamethason-onderdrukbaar primair hyperaldosteronisme CANDIDATE -en nl HP:0011739 IAO:0000115 A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone NOT_TRANSLATED -en nl HP:0011740 rdfs:label Glucocortocoid-insensitive primary hyperaldosteronism Glucocortocoïd-ongevoelig primair hyperaldosteronisme CANDIDATE -en nl HP:0011740 IAO:0000115 A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids NOT_TRANSLATED -en nl HP:0011741 rdfs:label Secondary hyperaldosteronism Secundair hyperaldosteronisme CANDIDATE -en nl HP:0011741 IAO:0000115 A form of hyperaldosteronism caused by abnormally increased renin levels A form of hyperaldosteronism caused by abnormally increased renin levels NOT_TRANSLATED -en nl HP:0011742 rdfs:label Ectopic adrenal gland Ectopische bijnier CANDIDATE -en nl HP:0011742 IAO:0000115 Abnormal anatomical location of the adrenal gland Abnormal anatomical location of the adrenal gland NOT_TRANSLATED -en nl HP:0011743 rdfs:label Adrenal gland agenesis Bijnier agenesie CANDIDATE -en nl HP:0011743 IAO:0000115 Absent development of the adrenal gland Absent development of the adrenal gland NOT_TRANSLATED -en nl HP:0011744 rdfs:label Secondary hypercortisolism Secundair hypercortisolisme CANDIDATE -en nl HP:0011744 IAO:0000115 Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol NOT_TRANSLATED -en nl HP:0011745 rdfs:label Non-secretory adrenocortical adenoma Non-secretoir adrenocorticaal adenoom CANDIDATE -en nl HP:0011745 IAO:0000115 An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones NOT_TRANSLATED -en nl HP:0011746 rdfs:label Secretory adrenocortical adenoma Secretoir adrenocorticaal adenoom CANDIDATE -en nl HP:0011746 IAO:0000115 An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones NOT_TRANSLATED -en nl HP:0011747 rdfs:label Abnormality of the anterior pituitary Afwijking van de anterieure hypofyse CANDIDATE -en nl HP:0011747 IAO:0000115 An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland NOT_TRANSLATED -en nl HP:0011748 rdfs:label Adrenocorticotropic hormone deficiency Adrenocorticotropisch hormoon deficiëntie CANDIDATE -en nl HP:0011748 IAO:0000115 A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol NOT_TRANSLATED -en nl HP:0011749 rdfs:label Adrenocorticotropic hormone excess Adrenocorticotropisch hormoon overschot CANDIDATE -en nl HP:0011749 IAO:0000115 Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex NOT_TRANSLATED -en nl HP:0011750 rdfs:label Neoplasm of the anterior pituitary Neoplasma van de anterieure hypofyse CANDIDATE -en nl HP:0011750 IAO:0000115 A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland NOT_TRANSLATED -en nl HP:0011751 rdfs:label Abnormality of the posterior pituitary Afwijking van de posterieure hypofyse CANDIDATE -en nl HP:0011751 IAO:0000115 An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis NOT_TRANSLATED -en nl HP:0011752 rdfs:label Neoplasm of the posterior pituitary Neoplasma van de posterieure hypofyse CANDIDATE -en nl HP:0011752 IAO:0000115 The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis NOT_TRANSLATED -en nl HP:0011753 rdfs:label Posterior pituitary dysgenesis Posterieure hypofyse dysgenesie CANDIDATE -en nl HP:0011753 IAO:0000115 Abnormal development of the neurohypophysis during embryonic growth and development Abnormal development of the neurohypophysis during embryonic growth and development NOT_TRANSLATED -en nl HP:0011754 rdfs:label Pituicytoma Pituicytoom CANDIDATE -en nl HP:0011754 IAO:0000115 A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern NOT_TRANSLATED -en nl HP:0011755 rdfs:label Ectopic posterior pituitary Ectopische posterieure hypofyse CANDIDATE -en nl HP:0011755 IAO:0000115 An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis NOT_TRANSLATED -en nl HP:0011756 rdfs:label Posterior pituitary agenesis Posterieure hypofyse agenesie CANDIDATE -en nl HP:0011756 IAO:0000115 Absence of the neurohypophysis owing to a developmental defect Absence of the neurohypophysis owing to a developmental defect NOT_TRANSLATED -en nl HP:0011757 rdfs:label Posterior pituitary hypoplasia Posterieure hypofyse hypoplasie CANDIDATE -en nl HP:0011757 IAO:0000115 Underdevelopment of the neurohypophysis Underdevelopment of the neurohypophysis NOT_TRANSLATED -en nl HP:0011758 rdfs:label Pituitary acidophilic stem cell adenoma Pituitary acidophilic stem cell adenoma NOT_TRANSLATED -en nl HP:0011759 rdfs:label Pituitary gonadotropic cell adenoma Hypofysair gonadotroop adenoom CANDIDATE -en nl HP:0011759 IAO:0000115 A type of pituitary adenoma that produces gonadotropins A type of pituitary adenoma that produces gonadotropins NOT_TRANSLATED -en nl HP:0011760 rdfs:label Pituitary growth hormone cell adenoma Hypofysair somatotroof adenoom CANDIDATE -en nl HP:0011760 IAO:0000115 A type of pituitary adenoma that produces growth hormone A type of pituitary adenoma that produces growth hormone NOT_TRANSLATED -en nl HP:0011761 rdfs:label Pituitary null cell adenoma Hypofysair niet-secreterend adenoom CANDIDATE -en nl HP:0011761 IAO:0000115 A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess NOT_TRANSLATED -en nl HP:0011762 rdfs:label Pituitary thyrotropic cell adenoma Hypofysair TSH-producerend adenoom CANDIDATE -en nl HP:0011762 IAO:0000115 A type of pituitary adenoma that produces thyroid stimulating hormone (TSH) A type of pituitary adenoma that produces thyroid stimulating hormone (TSH) NOT_TRANSLATED -en nl HP:0011763 rdfs:label Pituitary carcinoma Hypofyse carcinoom CANDIDATE -en nl HP:0011763 IAO:0000115 A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS NOT_TRANSLATED -en nl HP:0011764 rdfs:label Pituitary spindle cell oncocytoma Pituitary spindle cell oncocytoma NOT_TRANSLATED -en nl HP:0011764 IAO:0000115 A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular NOT_TRANSLATED -en nl HP:0011766 rdfs:label Abnormality of the parathyroid morphology Afwijking van de bijschildklier morfologie CANDIDATE -en nl HP:0011766 IAO:0000115 A structural abnormality of the parathyroid gland A structural abnormality of the parathyroid gland NOT_TRANSLATED -en nl HP:0011767 rdfs:label Abnormality of the parathyroid physiology Afwijking van de bijschildklier fysiologie CANDIDATE -en nl HP:0011767 IAO:0000115 A functional abnormality of the parathyroid gland A functional abnormality of the parathyroid gland NOT_TRANSLATED -en nl HP:0011768 rdfs:label Parathyroid dysgenesis Bijschildklier dysgenesie CANDIDATE -en nl HP:0011768 IAO:0000115 Abnormal embryonic development of the parathyroid gland Abnormal embryonic development of the parathyroid gland NOT_TRANSLATED -en nl HP:0011769 rdfs:label Ectopic parathyroid Ectopische bijschildklier CANDIDATE -en nl HP:0011769 IAO:0000115 An abnormal anatomical location of the parathyroid gland An abnormal anatomical location of the parathyroid gland NOT_TRANSLATED -en nl HP:0011770 rdfs:label Tertiary hyperparathyroidism Tertiaire hyperparathyreoïdie CANDIDATE -en nl HP:0011770 IAO:0000115 A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism NOT_TRANSLATED -en nl HP:0011771 rdfs:label Autoimmune hypoparathyroidism Auto-immune hypoparathyreoïdie CANDIDATE -en nl HP:0011771 IAO:0000115 A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity NOT_TRANSLATED -en nl HP:0011772 rdfs:label Abnormal thyroid morphology Afwijking van de schildklier morfologie CANDIDATE -en nl HP:0011772 IAO:0000115 A structural abnormality of the thyroid gland A structural abnormality of the thyroid gland NOT_TRANSLATED -en nl HP:0011773 rdfs:label Uninodular goiter Uninodulair struma CANDIDATE -en nl HP:0011773 IAO:0000115 Enlargement of the thyroid gland related to a singular nodule in the thyroid gland Enlargement of the thyroid gland related to a singular nodule in the thyroid gland NOT_TRANSLATED -en nl HP:0011774 rdfs:label Thyroid follicular adenoma Folliculair schildklieradenoom CANDIDATE -en nl HP:0011775 rdfs:label Thyroid macrofollicular adenoma Macrofolliculair schildklieradenoom CANDIDATE -en nl HP:0011776 rdfs:label Thyroid microfollicular adenoma Microfolliculair schildklieradenoom CANDIDATE -en nl HP:0011777 rdfs:label Thyroid papillary adenoma Papillair schildklieradenoom CANDIDATE -en nl HP:0011778 rdfs:label Thyroid atypical adenoma Atypisch schildklieradenoom CANDIDATE -en nl HP:0011779 rdfs:label Anaplastic thyroid carcinoma Anaplastisch schildkliercarcinoom CANDIDATE -en nl HP:0011780 rdfs:label Thyroid hemiagenesis Schildklier hemiagenesis CANDIDATE -en nl HP:0011780 IAO:0000115 Absence of a lobe of the thyroid gland related to a failure of its embryologic development Absence of a lobe of the thyroid gland related to a failure of its embryologic development NOT_TRANSLATED -en nl HP:0011781 rdfs:label Thyroid C cell hyperplasia Schildklier C cel hyperplasie CANDIDATE -en nl HP:0011781 IAO:0000115 An abnormal growth of parafollicular (C-cells) cells An abnormal growth of parafollicular (C-cells) cells NOT_TRANSLATED -en nl HP:0011782 rdfs:label Thyroid crisis Schildklier crisis CANDIDATE -en nl HP:0011783 rdfs:label Thyrotoxicosis from ectopic thyroid tissue Thyrotoxicose van ectopisch schildklierweefsel CANDIDATE -en nl HP:0011784 rdfs:label Thyrotoxicosis with diffuse goiter Thyrotoxicose van diffuus stroma CANDIDATE -en nl HP:0011785 rdfs:label Thyrotoxicosis with toxic multinodular goiter Thyrotoxicose met toxisch multinodulair struma CANDIDATE -en nl HP:0011786 rdfs:label Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicose met uninodulaire toxische struma CANDIDATE -en nl HP:0011787 rdfs:label Central hypothyroidism Centrale hypothyreoïdie CANDIDATE -en nl HP:0011787 IAO:0000115 A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects NOT_TRANSLATED -en nl HP:0011788 rdfs:label Increased circulating free T3 Verhoogd serum vrij triiodothyronine CANDIDATE -en nl HP:0011788 IAO:0000115 An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation NOT_TRANSLATED -en nl HP:0011789 rdfs:label Impaired sensitivity to thyroid stimulating hormone Thyreoïdstimulerend hormoon receptor defect CANDIDATE -en nl HP:0011789 IAO:0000115 Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH) Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH) NOT_TRANSLATED -en nl HP:0011790 rdfs:label Activating thyroid-stimulating hormone receptor defect Geactiveerd thyreoïdstimulerend hormoon receptor defect CANDIDATE -en nl HP:0011790 IAO:0000115 Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect NOT_TRANSLATED -en nl HP:0011791 rdfs:label Inactivating thyroid-stimulating hormone receptor defect Geinactiveerd thyreoïdstimulerend hormoon receptor defect CANDIDATE -en nl HP:0011791 IAO:0000115 Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect NOT_TRANSLATED -en nl HP:0011792 rdfs:label Neoplasm by histology Neoplasma op histologie CANDIDATE -en nl HP:0011792 IAO:0000115 Neoplasm categorized according to type of histological abnormality Neoplasm categorized according to type of histological abnormality NOT_TRANSLATED -en nl HP:0011793 rdfs:label Neoplasm by anatomical site Neoplasma op anatomische plek CANDIDATE -en nl HP:0011793 IAO:0000115 Neoplasm categorized according to the anatomical site of origin of the neoplasm Neoplasm categorized according to the anatomical site of origin of the neoplasm NOT_TRANSLATED -en nl HP:0011794 rdfs:label Embryonal renal neoplasm Embryonaal renaal neoplasma CANDIDATE -en nl HP:0011794 IAO:0000115 The presence of an embryonal neoplasm of the kidney that primarily affects children The presence of an embryonal neoplasm of the kidney that primarily affects children NOT_TRANSLATED -en nl HP:0011795 rdfs:label Intralobar nephroblastomatosis Intralobaire nefroblastomatose CANDIDATE -en nl HP:0011795 IAO:0000115 Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it) Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it) NOT_TRANSLATED -en nl HP:0011796 rdfs:label Perilobar nephroblastomatosis Perilobaire nefroblastomatose CANDIDATE -en nl HP:0011796 IAO:0000115 Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar) Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar) NOT_TRANSLATED -en nl HP:0011797 rdfs:label Papillary renal cell carcinoma type 1 Papillair niercelcarcinoom type 1 CANDIDATE -en nl HP:0011797 IAO:0000115 A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli NOT_TRANSLATED -en nl HP:0011798 rdfs:label Renal oncocytoma Renaal oncocytoom CANDIDATE -en nl HP:0011798 IAO:0000115 A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm NOT_TRANSLATED -en nl HP:0011799 rdfs:label Abnormality of facial soft tissue Afwijking van faciaal zacht weefsel CANDIDATE -en nl HP:0011800 rdfs:label Midface retrusion Midfaciale retrusie CANDIDATE -en nl HP:0011800 IAO:0000115 Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle NOT_TRANSLATED -en nl HP:0011801 rdfs:label Enlargement of parotid gland Vergroting van de glandula parotis CANDIDATE -en nl HP:0011801 IAO:0000115 Increased size of the parotid gland Increased size of the parotid gland NOT_TRANSLATED -en nl HP:0011802 rdfs:label Hamartoma of tongue Hamartoom van tong CANDIDATE -en nl HP:0011802 IAO:0000115 A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue NOT_TRANSLATED -en nl HP:0011803 rdfs:label Bifid nose Bifide neus CANDIDATE -en nl HP:0011803 IAO:0000115 Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip NOT_TRANSLATED -en nl HP:0011804 rdfs:label Abnormal muscle physiology Afwijking van spier fysiologie CANDIDATE -en nl HP:0011804 IAO:0000115 A functional abnormality of a skeletal muscle A functional abnormality of a skeletal muscle NOT_TRANSLATED -en nl HP:0011805 rdfs:label Abnormal skeletal muscle morphology Afwijking van spier morfologie CANDIDATE -en nl HP:0011805 IAO:0000115 A structural abnormality of a skeletal muscle A structural abnormality of a skeletal muscle NOT_TRANSLATED -en nl HP:0011807 rdfs:label Type 1 muscle fiber atrophy Type 1 spiervezelatrofie CANDIDATE -en nl HP:0011807 IAO:0000115 Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy NOT_TRANSLATED -en nl HP:0011808 rdfs:label Decreased patellar reflex Verminderde patellaire reflex CANDIDATE -en nl HP:0011808 IAO:0000115 Decreased intensity of the patellar reflex (also known as the knee jerk reflex) Decreased intensity of the patellar reflex (also known as the knee jerk reflex) NOT_TRANSLATED -en nl HP:0011809 rdfs:label Paradoxical myotonia Paradoxale myotonie CANDIDATE -en nl HP:0011809 IAO:0000115 A type of myotonia that worsens with repeated muscle contractions A type of myotonia that worsens with repeated muscle contractions NOT_TRANSLATED -en nl HP:0011810 rdfs:label Impaired two-point discrimination Verstoorde twee-puntsdiscriminatie CANDIDATE -en nl HP:0011810 IAO:0000115 A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart NOT_TRANSLATED -en nl HP:0011811 rdfs:label Impaired touch localization Verstoorde lokalisatie van aanraking CANDIDATE -en nl HP:0011811 IAO:0000115 A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip NOT_TRANSLATED -en nl HP:0011812 rdfs:label Agraphesthesia Agrafesthesie CANDIDATE -en nl HP:0011812 IAO:0000115 Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination) Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination) NOT_TRANSLATED -en nl HP:0011813 rdfs:label Increased cerebral lipofuscin Toegenomen cerebraal lipofuscine CANDIDATE -en nl HP:0011813 IAO:0000115 Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient NOT_TRANSLATED -en nl HP:0011814 rdfs:label Increased urinary hypoxanthine Verhoogd urine hypoxanthine CANDIDATE -en nl HP:0011814 IAO:0000115 An increased level of hypoxanthine in the urine An increased level of hypoxanthine in the urine NOT_TRANSLATED -en nl HP:0011815 rdfs:label Cephalocele Cefalocele CANDIDATE -en nl HP:0011815 IAO:0000115 A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect NOT_TRANSLATED -en nl HP:0011816 rdfs:label Parietal encephalocele Pariëtale encefalocele CANDIDATE -en nl HP:0011816 IAO:0000115 An encephalocele located between bregma and lambda An encephalocele located between bregma and lambda NOT_TRANSLATED -en nl HP:0011817 rdfs:label Basal encephalocele Basale encefalocele CANDIDATE -en nl HP:0011817 IAO:0000115 Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares NOT_TRANSLATED -en nl HP:0011818 rdfs:label Nasofrontal encephalocele Nasofrontale encefalocele CANDIDATE -en nl HP:0011819 rdfs:label Submucous cleft soft palate Submuceus gespleten zacht gehemelte CANDIDATE -en nl HP:0011819 IAO:0000115 A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue NOT_TRANSLATED -en nl HP:0011820 rdfs:label Membranous choanal atresia Membraneuze choane atresie CANDIDATE -en nl HP:0011820 IAO:0000115 Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike NOT_TRANSLATED -en nl HP:0011821 rdfs:label Abnormal facial skeleton morphology Afwijking van faciaal skelet CANDIDATE -en nl HP:0011821 IAO:0000115 An abnormality of one or more of the set of bones that make up the facial skeleton An abnormality of one or more of the set of bones that make up the facial skeleton NOT_TRANSLATED -en nl HP:0011822 rdfs:label Broad chin Brede kin CANDIDATE -en nl HP:0011822 IAO:0000115 Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue NOT_TRANSLATED -en nl HP:0011823 rdfs:label Chin with horizontal crease Kin met horizontale plooi CANDIDATE -en nl HP:0011823 IAO:0000115 Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest NOT_TRANSLATED -en nl HP:0011824 rdfs:label Chin with H-shaped crease Kin met H-vormige plooi CANDIDATE -en nl HP:0011824 IAO:0000115 H-shaped crease in the fat pad of the chin H-shaped crease in the fat pad of the chin NOT_TRANSLATED -en nl HP:0011825 rdfs:label Tented philtrum Tenten filtrum CANDIDATE -en nl HP:0011825 IAO:0000115 Prominence of a triangular soft tissue area of the philtrum with the apex to the columella Prominence of a triangular soft tissue area of the philtrum with the apex to the columella NOT_TRANSLATED -en nl HP:0011826 rdfs:label Philtrum with midline raphe Filtrum met middellijn raphe CANDIDATE -en nl HP:0011826 IAO:0000115 Narrow ridge in the midline of the philtral groove Narrow ridge in the midline of the philtral groove NOT_TRANSLATED -en nl HP:0011827 rdfs:label Malaligned philtral ridges Malaligned philtral ridges NOT_TRANSLATED -en nl HP:0011827 IAO:0000115 Absence of the usual parallel position of philtral ridges Absence of the usual parallel position of philtral ridges NOT_TRANSLATED -en nl HP:0011828 rdfs:label Midline sinus of philtrum Midline sinus of philtrum NOT_TRANSLATED -en nl HP:0011828 IAO:0000115 Pit in the midline of the philtral groove Pit in the midline of the philtral groove NOT_TRANSLATED -en nl HP:0011829 rdfs:label Narrow philtrum Smal filtrum CANDIDATE -en nl HP:0011829 IAO:0000115 Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum NOT_TRANSLATED -en nl HP:0011830 rdfs:label Abnormal oral mucosa morphology Afwijking van orale mucosa CANDIDATE -en nl HP:0011830 IAO:0000115 Abnormality of the oral mucosa Abnormality of the oral mucosa NOT_TRANSLATED -en nl HP:0011831 rdfs:label Deviated nasal tip Gedevieerde neuspunt CANDIDATE -en nl HP:0011831 IAO:0000115 Nasal tip positioned to one side of the midline Nasal tip positioned to one side of the midline NOT_TRANSLATED -en nl HP:0011832 rdfs:label Narrow nasal tip Smalle neuspunt CANDIDATE -en nl HP:0011832 IAO:0000115 Decrease in width of the nasal tip Decrease in width of the nasal tip NOT_TRANSLATED -en nl HP:0011833 rdfs:label Overhanging nasal tip Overhangende neuspunt CANDIDATE -en nl HP:0011833 IAO:0000115 Positioning of the nasal tip inferior to the nasal base Positioning of the nasal tip inferior to the nasal base NOT_TRANSLATED -en nl HP:0011834 rdfs:label Moyamoya phenomenon Moyamoya syndroom CANDIDATE -en nl HP:0011834 IAO:0000115 A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis NOT_TRANSLATED -en nl HP:0011835 rdfs:label Absent scaphoid Afwezig scaphoid CANDIDATE -en nl HP:0011835 IAO:0000115 Congenital absence of the scaphoid. Congenital absence of the scaphoid. NOT_TRANSLATED -en nl HP:0011836 rdfs:label Delayed talus ossification Vertraagde talus ossificatie CANDIDATE -en nl HP:0011836 IAO:0000115 Delayed maturation and calcification of the talus Delayed maturation and calcification of the talus NOT_TRANSLATED -en nl HP:0011837 rdfs:label Partial IgA deficiency Partiële IgA-deficiëntie CANDIDATE -en nl HP:0011837 IAO:0000115 Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means NOT_TRANSLATED -en nl HP:0011838 rdfs:label Sclerodactyly Sclerodactylie CANDIDATE -en nl HP:0011838 IAO:0000115 Localized thickening and tightness of the skin of the fingers or toes Localized thickening and tightness of the skin of the fingers or toes NOT_TRANSLATED -en nl HP:0011839 rdfs:label Abnormal T cell count Afwijkend aantal T-cellen CANDIDATE -en nl HP:0011839 IAO:0000115 A deviation from the normal count of T cells A deviation from the normal count of T cells NOT_TRANSLATED -en nl HP:0011840 rdfs:label Abnormality of T cell physiology Afwijking van T cel fysiologie CANDIDATE -en nl HP:0011840 IAO:0000115 A functional anomaly of T cells A functional anomaly of T cells NOT_TRANSLATED -en nl HP:0011841 rdfs:label Ventricular flutter Ventriculaire flutter CANDIDATE -en nl HP:0011841 IAO:0000115 A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance NOT_TRANSLATED -en nl HP:0011842 rdfs:label Abnormal skeletal morphology Afwijking van skelet morfologie CANDIDATE -en nl HP:0011842 IAO:0000115 An abnormality of the form, structure, or size of the skeletal system An abnormality of the form, structure, or size of the skeletal system NOT_TRANSLATED -en nl HP:0011843 rdfs:label Abnormal musculoskeletal physiology Afwijking van de skelet fysiologie CANDIDATE -en nl HP:0011843 IAO:0000115 An abnormality of the function of the skeletal system An abnormality of the function of the skeletal system NOT_TRANSLATED -en nl HP:0011844 rdfs:label Abnormal appendicular skeleton morphology Afwijkende appendiculair skelet morfologie CANDIDATE -en nl HP:0011844 IAO:0000115 An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles NOT_TRANSLATED -en nl HP:0011845 rdfs:label Short second metatarsal Korte tweede metatarsaal CANDIDATE -en nl HP:0011845 IAO:0000115 Short (hypoplastic) second metatarsal bone Short (hypoplastic) second metatarsal bone NOT_TRANSLATED -en nl HP:0011846 rdfs:label Osteoblastoma Osteoblastoom CANDIDATE -en nl HP:0011846 IAO:0000115 A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue NOT_TRANSLATED -en nl HP:0011847 rdfs:label Giant cell tumor of bone Reusceltumor van bot CANDIDATE -en nl HP:0011847 IAO:0000115 A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts NOT_TRANSLATED -en nl HP:0011848 rdfs:label Abdominal colic Abdominale koliekpijnen CANDIDATE -en nl HP:0011848 IAO:0000115 A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity NOT_TRANSLATED -en nl HP:0011849 rdfs:label Abnormal bone ossification Afwijkende bot ossificatie CANDIDATE -en nl HP:0011849 IAO:0000115 Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance NOT_TRANSLATED -en nl HP:0011850 rdfs:label Parotitis Parotitis CANDIDATE -en nl HP:0011850 IAO:0000115 Inflammation of the parotid gland Inflammation of the parotid gland NOT_TRANSLATED -en nl HP:0011851 rdfs:label Hemopericardium Hemopericard CANDIDATE -en nl HP:0011851 IAO:0000115 Accumulation of blood within the pericardial sac Accumulation of blood within the pericardial sac NOT_TRANSLATED -en nl HP:0011852 rdfs:label Chylopericardium Chylopericard CANDIDATE -en nl HP:0011852 IAO:0000115 Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct NOT_TRANSLATED -en nl HP:0011853 rdfs:label Serous pericardial effusion Sereuze pericardiale effusie CANDIDATE -en nl HP:0011853 IAO:0000115 Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac NOT_TRANSLATED -en nl HP:0011854 rdfs:label Hemoperitoneum Hemoperitoneum CANDIDATE -en nl HP:0011854 IAO:0000115 Accumulation of blood in the peritoneal cavity owing to internal hemorrhage Accumulation of blood in the peritoneal cavity owing to internal hemorrhage NOT_TRANSLATED -en nl HP:0011855 rdfs:label Pharyngeal edema Faryngeaal oedeem CANDIDATE -en nl HP:0011855 IAO:0000115 Abnormal accumulation of fluid leading to swelling of the pharynx Abnormal accumulation of fluid leading to swelling of the pharynx NOT_TRANSLATED -en nl HP:0011856 rdfs:label Pica Pica CANDIDATE -en nl HP:0011856 IAO:0000115 An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month NOT_TRANSLATED -en nl HP:0011857 rdfs:label Plasmacytoma Plasmacytoom CANDIDATE -en nl HP:0011857 IAO:0000115 A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location NOT_TRANSLATED -en nl HP:0011858 rdfs:label Reduced factor IX activity Verminderde activiteit van factor IX CANDIDATE -en nl HP:0011858 IAO:0000115 Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa NOT_TRANSLATED -en nl HP:0011859 rdfs:label Punctate keratitis Punctate keratitis NOT_TRANSLATED -en nl HP:0011859 IAO:0000115 A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium NOT_TRANSLATED -en nl HP:0011860 rdfs:label Metaphyseal dappling Metaphyseal dappling NOT_TRANSLATED -en nl HP:0011860 IAO:0000115 The presence of spots or rounded patches of abnormally increased density of metaphyseal bone The presence of spots or rounded patches of abnormally increased density of metaphyseal bone NOT_TRANSLATED -en nl HP:0011861 rdfs:label Bilateral trilobed lung Bilaterale drielobbige longen CANDIDATE -en nl HP:0011861 IAO:0000115 Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes NOT_TRANSLATED -en nl HP:0011862 rdfs:label Abnormal bone collagen fibril morphology Afwijkende bot collageen fibril morfologie CANDIDATE -en nl HP:0011862 IAO:0000115 Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity NOT_TRANSLATED -en nl HP:0011863 rdfs:label Abnormal sternal ossification Afwijkende sternale ossificatie CANDIDATE -en nl HP:0011863 IAO:0000115 Any anomaly in the formation of the bony substance of the sternum Any anomaly in the formation of the bony substance of the sternum NOT_TRANSLATED -en nl HP:0011864 rdfs:label Elevated plasma pyrophosphate Verhoogd plasma pyrofosfaat CANDIDATE -en nl HP:0011864 IAO:0000115 An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate NOT_TRANSLATED -en nl HP:0011867 rdfs:label Abnormal iliac wing morphology Abnormal iliac wing morphology NOT_TRANSLATED -en nl HP:0011867 IAO:0000115 An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally NOT_TRANSLATED -en nl HP:0011868 rdfs:label Sciatica Sciatica CANDIDATE -en nl HP:0011868 IAO:0000115 Pain in the lower back and hip radiating in the distribution of the sciatic nerve Pain in the lower back and hip radiating in the distribution of the sciatic nerve NOT_TRANSLATED -en nl HP:0011869 rdfs:label Abnormal platelet function Afwijkende bloedplaatjes functie CANDIDATE -en nl HP:0011869 IAO:0000115 Any anomaly in the function of thrombocytes Any anomaly in the function of thrombocytes NOT_TRANSLATED -en nl HP:0011870 rdfs:label Impaired arachidonic acid-induced platelet aggregation Verminderde arachidonzuur-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0011870 IAO:0000115 Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid NOT_TRANSLATED -en nl HP:0011871 rdfs:label Impaired ristocetin-induced platelet aggregation Verminderde ristocetine-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0011871 IAO:0000115 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin NOT_TRANSLATED -en nl HP:0011872 rdfs:label Impaired thrombin-induced platelet aggregation Verminderde trombine-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0011872 IAO:0000115 Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics) Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics) NOT_TRANSLATED -en nl HP:0011873 rdfs:label Abnormal platelet count Afwijkend aantal van bloedplaatjes CANDIDATE -en nl HP:0011873 IAO:0000115 Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood NOT_TRANSLATED -en nl HP:0011874 rdfs:label Heparin-induced thrombocytopenia Heparine-geïnduceerde trombocytopenie CANDIDATE -en nl HP:0011874 IAO:0000115 Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin NOT_TRANSLATED -en nl HP:0011875 rdfs:label Abnormal platelet morphology Afwijkende bloedplaatjes morfologie CANDIDATE -en nl HP:0011875 IAO:0000115 An anomaly in platelet form, ultrastructure, or intracellular organelles An anomaly in platelet form, ultrastructure, or intracellular organelles NOT_TRANSLATED -en nl HP:0011876 rdfs:label Abnormal platelet volume Afwijkend bloedplaatjes volume CANDIDATE -en nl HP:0011876 IAO:0000115 Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers NOT_TRANSLATED -en nl HP:0011877 rdfs:label Increased mean platelet volume Toegenomen MPV CANDIDATE -en nl HP:0011877 IAO:0000115 Average platelet volume above the upper limit of the normal reference interval Average platelet volume above the upper limit of the normal reference interval NOT_TRANSLATED -en nl HP:0011878 rdfs:label Abnormal platelet membrane protein expression Afwijkende bloedplaatjes membraan eiwit expressie CANDIDATE -en nl HP:0011878 IAO:0000115 Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry NOT_TRANSLATED -en nl HP:0011879 rdfs:label Decreased platelet glycoprotein Ib-IX-V Verminderde bloedplaatje glycoproteïne Ib-IX-V CANDIDATE -en nl HP:0011879 IAO:0000115 Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V NOT_TRANSLATED -en nl HP:0011880 rdfs:label Acute disseminated intravascular coagulation Acute diffuse intravasale stolling CANDIDATE -en nl HP:0011880 IAO:0000115 An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed NOT_TRANSLATED -en nl HP:0011881 rdfs:label Decreased platelet glycoprotein VI Verminderde bloedplaatje glycoproteïne VI CANDIDATE -en nl HP:0011881 IAO:0000115 Decreased cell membrane concentration of glycoprotein VI Decreased cell membrane concentration of glycoprotein VI NOT_TRANSLATED -en nl HP:0011882 rdfs:label Decreased platelet P2Y12 receptor Verminderd bloedplaatje P2Y12 receptor CANDIDATE -en nl HP:0011882 IAO:0000115 Decreased cell membrane concentration of P2Y12 receptor Decreased cell membrane concentration of P2Y12 receptor NOT_TRANSLATED -en nl HP:0011883 rdfs:label Abnormal platelet granules Afwijkende bloedplaatjes granules CANDIDATE -en nl HP:0011883 IAO:0000115 An anomaly of alpha or dense granules or platelet lysosomes An anomaly of alpha or dense granules or platelet lysosomes NOT_TRANSLATED -en nl HP:0011884 rdfs:label Abnormal umbilical stump bleeding Abnormal umbilical stump bleeding NOT_TRANSLATED -en nl HP:0011884 IAO:0000115 Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth NOT_TRANSLATED -en nl HP:0011885 rdfs:label Hemorrhage of the eye Bloeding van het oog CANDIDATE -en nl HP:0011885 IAO:0000115 Bleeding from vessels of the various tissues of the eye Bleeding from vessels of the various tissues of the eye NOT_TRANSLATED -en nl HP:0011886 rdfs:label Hyphema Hypheem CANDIDATE -en nl HP:0011886 IAO:0000115 Bleeding in the anterior chamber of the eye Bleeding in the anterior chamber of the eye NOT_TRANSLATED -en nl HP:0011887 rdfs:label Choroid hemorrhage Choroïdale bloeding CANDIDATE -en nl HP:0011887 IAO:0000115 Hemorrhage from the vessels of the choroid Hemorrhage from the vessels of the choroid NOT_TRANSLATED -en nl HP:0011888 rdfs:label Bleeding requiring red cell transfusion Bloeding die erytrocytentransfusie vereist CANDIDATE -en nl HP:0011888 IAO:0000115 Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4) Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4) NOT_TRANSLATED -en nl HP:0011889 rdfs:label Bleeding with minor or no trauma Bloeding met klein of geen trauma CANDIDATE -en nl HP:0011889 IAO:0000115 Significant bleeding or hemorrhage without significant precipitating factor Significant bleeding or hemorrhage without significant precipitating factor NOT_TRANSLATED -en nl HP:0011890 rdfs:label Prolonged bleeding following procedure Langdurig bloeden na ingreep CANDIDATE -en nl HP:0011890 IAO:0000115 Prolonged or protracted bleeding following an invasive procedure or intervention Prolonged or protracted bleeding following an invasive procedure or intervention NOT_TRANSLATED -en nl HP:0011891 rdfs:label Post-partum hemorrhage Post-partum bloeding CANDIDATE -en nl HP:0011891 IAO:0000115 Significant maternal haemorrhage/blood loss following deilvery of a child Significant maternal haemorrhage/blood loss following deilvery of a child NOT_TRANSLATED -en nl HP:0011892 rdfs:label Low levels of vitamin K Vitamine K-deficiëntie CANDIDATE -en nl HP:0011892 IAO:0000115 A reduced concentration of vitamin K A reduced concentration of vitamin K NOT_TRANSLATED -en nl HP:0011893 rdfs:label Abnormal leukocyte count Afwijkend aantal leukocyten CANDIDATE -en nl HP:0011893 IAO:0000115 Number of leukocytes per volume of blood beyond normal limits Number of leukocytes per volume of blood beyond normal limits NOT_TRANSLATED -en nl HP:0011894 rdfs:label Impaired thromboxane A2 agonist-induced platelet aggregation Verminderde tromboxaan A2-agonist-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0011894 IAO:0000115 Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists NOT_TRANSLATED -en nl HP:0011895 rdfs:label Anemia due to reduced life span of red cells Anemie als gevolg van verminderde levensduur van erytrocyten CANDIDATE -en nl HP:0011895 IAO:0000115 A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days NOT_TRANSLATED -en nl HP:0011896 rdfs:label Subconjunctival hemorrhage Subconjunctivale bloeding CANDIDATE -en nl HP:0011896 IAO:0000115 Bleeding beneath the mucous membrane that lines the inner surface of the eyelid Bleeding beneath the mucous membrane that lines the inner surface of the eyelid NOT_TRANSLATED -en nl HP:0011897 rdfs:label Neutrophilia Neutrofilie CANDIDATE -en nl HP:0011897 IAO:0000115 Increased number of neutrophils circulating in blood Increased number of neutrophils circulating in blood NOT_TRANSLATED -en nl HP:0011898 rdfs:label Abnormality of circulating fibrinogen Afwijking van circulerend fibrinogeen CANDIDATE -en nl HP:0011898 IAO:0000115 An abnormality of the level of activity of circulating fibrinogen An abnormality of the level of activity of circulating fibrinogen NOT_TRANSLATED -en nl HP:0011899 rdfs:label Hyperfibrinogenemia Hyperfibrinogenemie CANDIDATE -en nl HP:0011899 IAO:0000115 Increased concentration of fibrinogen in the blood Increased concentration of fibrinogen in the blood NOT_TRANSLATED -en nl HP:0011900 rdfs:label Hypofibrinogenemia Hypofibrinogenemie CANDIDATE -en nl HP:0011900 IAO:0000115 Decreased concentration of fibrinogen in the blood Decreased concentration of fibrinogen in the blood NOT_TRANSLATED -en nl HP:0011901 rdfs:label Dysfibrinogenemia Dysfibrinogenemie CANDIDATE -en nl HP:0011901 IAO:0000115 Qualitatively abnormal fibrinogen Qualitatively abnormal fibrinogen NOT_TRANSLATED -en nl HP:0011902 rdfs:label Abnormal hemoglobin Afwijkend hemoglobine CANDIDATE -en nl HP:0011902 IAO:0000115 Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes NOT_TRANSLATED -en nl HP:0011903 rdfs:label HbH hemoglobin Hemoglobine H CANDIDATE -en nl HP:0011903 IAO:0000115 Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia NOT_TRANSLATED -en nl HP:0011904 rdfs:label Persistence of hemoglobin F Persistentie van hemoglobine F CANDIDATE -en nl HP:0011904 IAO:0000115 Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent NOT_TRANSLATED -en nl HP:0011905 rdfs:label Reduced hemoglobin A Verlaagd hemoglobine A CANDIDATE -en nl HP:0011905 IAO:0000115 Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia NOT_TRANSLATED -en nl HP:0011906 rdfs:label Reduced beta/alpha synthesis ratio Verminderde beta/alfa synthese ratio CANDIDATE -en nl HP:0011906 IAO:0000115 A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia NOT_TRANSLATED -en nl HP:0011907 rdfs:label Reduced alpha/beta synthesis ratio Verminderde alfa/beta synthese ratio CANDIDATE -en nl HP:0011907 IAO:0000115 A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia NOT_TRANSLATED -en nl HP:0011908 rdfs:label Unilateral radial aplasia Unilaterale radius aplasie CANDIDATE -en nl HP:0011908 IAO:0000115 Missing radius bone on one side only associated with congenital failure of development Missing radius bone on one side only associated with congenital failure of development NOT_TRANSLATED -en nl HP:0011909 rdfs:label Flattened metacarpal heads Afgevlakte metacarpale koppen CANDIDATE -en nl HP:0011909 IAO:0000115 Abnormally flat shape of the heads of the metacarpal bones Abnormally flat shape of the heads of the metacarpal bones NOT_TRANSLATED -en nl HP:0011910 rdfs:label Shortening of all phalanges of fingers Verkorting van alle falangen van de vingers CANDIDATE -en nl HP:0011910 IAO:0000115 Abnormal reduction in length affecting all phalanges Abnormal reduction in length affecting all phalanges NOT_TRANSLATED -en nl HP:0011911 rdfs:label Abnormal metacarpophalangeal joint morphology Afwijking van het metacarpofalangeale gewricht CANDIDATE -en nl HP:0011911 IAO:0000115 An anomaly of a metacarpophalangeal joint An anomaly of a metacarpophalangeal joint NOT_TRANSLATED -en nl HP:0011912 rdfs:label Abnormality of the glenoid fossa Afwijking van de fossa glenoidalis CANDIDATE -en nl HP:0011912 IAO:0000115 An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus NOT_TRANSLATED -en nl HP:0011913 rdfs:label Lumbar hypertrichosis Lumbale hypertrichose CANDIDATE -en nl HP:0011913 IAO:0000115 Excessive, increased hair growth located in the lumbar region Excessive, increased hair growth located in the lumbar region NOT_TRANSLATED -en nl HP:0011914 rdfs:label Thoracic hypertrichosis Thoracle hypertrichose CANDIDATE -en nl HP:0011914 IAO:0000115 Excessive, increased hair growth located in the thoracic region Excessive, increased hair growth located in the thoracic region NOT_TRANSLATED -en nl HP:0011915 rdfs:label Cardiovascular calcification Cardiovasculaire calcificatie CANDIDATE -en nl HP:0011915 IAO:0000115 Abnormal calcification in the cardiovascular system Abnormal calcification in the cardiovascular system NOT_TRANSLATED -en nl HP:0011916 rdfs:label Toe extensor amyotrophy Teen extensor amyotrofie CANDIDATE -en nl HP:0011916 IAO:0000115 Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes NOT_TRANSLATED -en nl HP:0011917 rdfs:label Short 5th toe Korte 5e teen CANDIDATE -en nl HP:0011917 IAO:0000115 Underdevelopment (hypoplasia) of the fifth toe Underdevelopment (hypoplasia) of the fifth toe NOT_TRANSLATED -en nl HP:0011918 rdfs:label Clinodactyly of the 4th toe Clinodactylie van de 4e teen CANDIDATE -en nl HP:0011918 IAO:0000115 Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe) Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED -en nl HP:0011919 rdfs:label Pleural empyema Pleuraal empyeem CANDIDATE -en nl HP:0011919 IAO:0000115 Accumulation of pus in the pleural cavity Accumulation of pus in the pleural cavity NOT_TRANSLATED -en nl HP:0011920 rdfs:label Transudative pleural effusion Transudatieve pleurale effusie CANDIDATE -en nl HP:0011920 IAO:0000115 A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH NOT_TRANSLATED -en nl HP:0011921 rdfs:label Exudative pleural effusion Exsudatieve pleurale effusie CANDIDATE -en nl HP:0011921 IAO:0000115 A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH NOT_TRANSLATED -en nl HP:0011922 rdfs:label Abnormal activity of mitochondrial respiratory chain Afwijkende activiteit van mitochondriale ademhalingsketen CANDIDATE -en nl HP:0011922 IAO:0000115 An increased or decreased activity of the mitochondrial respiratory chain An increased or decreased activity of the mitochondrial respiratory chain NOT_TRANSLATED -en nl HP:0011923 rdfs:label Decreased activity of mitochondrial complex I Afgenomen activiteit van mitochondriale complex I CANDIDATE -en nl HP:0011923 IAO:0000115 A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria NOT_TRANSLATED -en nl HP:0011924 rdfs:label Decreased activity of mitochondrial complex III Afgenomen activiteit van mitochondriale complex III CANDIDATE -en nl HP:0011924 IAO:0000115 A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria NOT_TRANSLATED -en nl HP:0011925 rdfs:label Decreased activity of mitochondrial ATP synthase complex Afgenomen activiteit van mitochondriale ATP synthase complex CANDIDATE -en nl HP:0011925 IAO:0000115 A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain NOT_TRANSLATED -en nl HP:0011926 rdfs:label Proximal placement of hallux Proximaal geplaatste hallux CANDIDATE -en nl HP:0011926 IAO:0000115 Proximal mislocalization of the big toe from its normal position Proximal mislocalization of the big toe from its normal position NOT_TRANSLATED -en nl HP:0011927 rdfs:label Short digit Korte vinger/teen CANDIDATE -en nl HP:0011927 IAO:0000115 One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened NOT_TRANSLATED -en nl HP:0011928 rdfs:label Short proximal phalanx of toe Korte proximale falanx van de teen CANDIDATE -en nl HP:0011928 IAO:0000115 Developmental hypoplasia (shortening) of proximal phalanx of toe Developmental hypoplasia (shortening) of proximal phalanx of toe NOT_TRANSLATED -en nl HP:0011929 rdfs:label Hypersegmentation of proximal phalanx of third finger Hypersegmentatie van proximale falanx van derde vinger CANDIDATE -en nl HP:0011929 IAO:0000115 Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger NOT_TRANSLATED -en nl HP:0011930 rdfs:label Hyperextensible skin of chest Hyperextensibiliteit van huid van de borst CANDIDATE -en nl HP:0011931 rdfs:label Abnormal cerebellar peduncle morphology Afwijking van de cerebellaire peduncle CANDIDATE -en nl HP:0011931 IAO:0000115 An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum NOT_TRANSLATED -en nl HP:0011932 rdfs:label Abnormal superior cerebellar peduncle morphology Afwijking van de superieure cerebellaire peduncle CANDIDATE -en nl HP:0011932 IAO:0000115 An anomaly of the superior cerebellar peduncle An anomaly of the superior cerebellar peduncle NOT_TRANSLATED -en nl HP:0011933 rdfs:label Elongated superior cerebellar peduncle Verlengde superieure cerebellaire peduncle CANDIDATE -en nl HP:0011933 IAO:0000115 Increased length of the superior cerebellar peduncle Increased length of the superior cerebellar peduncle NOT_TRANSLATED -en nl HP:0011934 rdfs:label Dilatation of mesenteric artery Dilatatie van arteria mesenterica CANDIDATE -en nl HP:0011934 IAO:0000115 Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery NOT_TRANSLATED -en nl HP:0011935 rdfs:label Decreased urinary urate Verlaagde uraten in urine CANDIDATE -en nl HP:0011935 IAO:0000115 Decreased concentration of urate in the urine Decreased concentration of urate in the urine NOT_TRANSLATED -en nl HP:0011936 rdfs:label Decreased plasma total carnitine Verminderd plasma totaal carnitine CANDIDATE -en nl HP:0011936 IAO:0000115 A decreased concentration of total carnitine in the blood A decreased concentration of total carnitine in the blood NOT_TRANSLATED -en nl HP:0011937 rdfs:label Hypoplastic fifth toenail Hypoplastische vijfde teennagel CANDIDATE -en nl HP:0011937 IAO:0000115 Underdeveloped nails of the fifth toes Underdeveloped nails of the fifth toes NOT_TRANSLATED -en nl HP:0011939 rdfs:label 3-4 finger cutaneous syndactyly 3-4 vinger cutane syndactylie CANDIDATE -en nl HP:0011939 IAO:0000115 A soft tissue continuity in the A/P axis between fingers 3 and 4 A soft tissue continuity in the A/P axis between fingers 3 and 4 NOT_TRANSLATED -en nl HP:0011940 rdfs:label Anterior wedging of T12 Anterior wedging of T12 NOT_TRANSLATED -en nl HP:0011940 IAO:0000115 An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front) An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED -en nl HP:0011941 rdfs:label Anterior wedging of L2 Anterior wedging of L2 NOT_TRANSLATED -en nl HP:0011941 IAO:0000115 An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front) An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED -en nl HP:0011942 rdfs:label Increased urinary sulfite Verhoogd urine sulfiet CANDIDATE -en nl HP:0011942 IAO:0000115 Increased concentration of SO3(2-), i.e., sulfite, in the urine Increased concentration of SO3(2-), i.e., sulfite, in the urine NOT_TRANSLATED -en nl HP:0011943 rdfs:label Increased urinary thiosulfate Verhoogd urine thiosulfaat CANDIDATE -en nl HP:0011943 IAO:0000115 Increased concentration of thiosulfate(2-) in the urine Increased concentration of thiosulfate(2-) in the urine NOT_TRANSLATED -en nl HP:0011944 rdfs:label Small vessel vasculitis Kleine vaten vasculitis CANDIDATE -en nl HP:0011944 IAO:0000115 A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries NOT_TRANSLATED -en nl HP:0011945 rdfs:label Bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans met organiserende pneumonie CANDIDATE -en nl HP:0011945 IAO:0000115 Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss NOT_TRANSLATED -en nl HP:0011946 rdfs:label Bronchiolitis obliterans Bronchiolitis obliterans CANDIDATE -en nl HP:0011946 IAO:0000115 Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways NOT_TRANSLATED -en nl HP:0011947 rdfs:label Respiratory tract infection Luchtweginfectie CANDIDATE -en nl HP:0011947 IAO:0000115 An infection of the upper or lower respiratory tract An infection of the upper or lower respiratory tract NOT_TRANSLATED -en nl HP:0011948 rdfs:label Recurrent acute respiratory tract infection Acute luchtweginfectie CANDIDATE -en nl HP:0011948 IAO:0000115 A history of repeated acute infections of the upper or lower respiratory tract A history of repeated acute infections of the upper or lower respiratory tract NOT_TRANSLATED -en nl HP:0011949 rdfs:label Acute infectious pneumonia Acute infectieuze pneumonie CANDIDATE -en nl HP:0011949 IAO:0000115 Acute inflammation of the lung due to an infection Acute inflammation of the lung due to an infection NOT_TRANSLATED -en nl HP:0011950 rdfs:label Bronchiolitis Bronchiolitis CANDIDATE -en nl HP:0011950 IAO:0000115 Inflammation of the bronchioles Inflammation of the bronchioles NOT_TRANSLATED -en nl HP:0011951 rdfs:label Aspiration pneumonia Aspiratiepneumonie CANDIDATE -en nl HP:0011951 IAO:0000115 Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract NOT_TRANSLATED -en nl HP:0011952 rdfs:label Acute aspiration pneumonia Acute aspiratiepneumonie CANDIDATE -en nl HP:0011952 IAO:0000115 An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract NOT_TRANSLATED -en nl HP:0011953 rdfs:label Pulmonary lymphoma Pulmonaal lymfoom CANDIDATE -en nl HP:0011953 IAO:0000115 Lung parenchymal involvement with lymphoma Lung parenchymal involvement with lymphoma NOT_TRANSLATED -en nl HP:0011954 rdfs:label Nodular regenerative hyperplasia of liver Nodulaire regeneratieve hyperplasie van lever CANDIDATE -en nl HP:0011954 IAO:0000115 Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis NOT_TRANSLATED -en nl HP:0011955 rdfs:label Hepatic granulomatosis Hepatische granulomatose CANDIDATE -en nl HP:0011955 IAO:0000115 The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes NOT_TRANSLATED -en nl HP:0011956 rdfs:label Intestinal lymphoid nodular hyperplasia Intestinale lymfoïde nodulaire hyperplasie CANDIDATE -en nl HP:0011956 IAO:0000115 A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine NOT_TRANSLATED -en nl HP:0011957 rdfs:label Abnormal pectoral muscle morphology Afwijking van de musculus pectoralis CANDIDATE -en nl HP:0011957 IAO:0000115 An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major NOT_TRANSLATED -en nl HP:0011958 rdfs:label Retinal perforation Retinale perforatie CANDIDATE -en nl HP:0011958 IAO:0000115 A small hole through the whole thickness of the retina A small hole through the whole thickness of the retina NOT_TRANSLATED -en nl HP:0011959 rdfs:label Unilateral hypoplasia of pectoralis major muscle Unilaterale hypoplasie van de musculus pectoralis major CANDIDATE -en nl HP:0011959 IAO:0000115 Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest NOT_TRANSLATED -en nl HP:0011960 rdfs:label Substantia nigra gliosis Substantia nigra gliose CANDIDATE -en nl HP:0011960 IAO:0000115 Focal proliferation of glial cells in the substantia nigra Focal proliferation of glial cells in the substantia nigra NOT_TRANSLATED -en nl HP:0011961 rdfs:label Non-obstructive azoospermia Niet-obstructieve azoospermie CANDIDATE -en nl HP:0011961 IAO:0000115 Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy NOT_TRANSLATED -en nl HP:0011962 rdfs:label Obstructive azoospermia Obstructieve azoospermie CANDIDATE -en nl HP:0011962 IAO:0000115 Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy NOT_TRANSLATED -en nl HP:0011963 rdfs:label Pretesticular azoospermia Pre-testiculaire azoospermie CANDIDATE -en nl HP:0011963 IAO:0000115 Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels NOT_TRANSLATED -en nl HP:0011964 rdfs:label Intermittent painful muscle spasms Intermitterende pijnlijke spier spasmen CANDIDATE -en nl HP:0011964 IAO:0000115 History of repeated intermittent involuntary muscle contractions that were painful History of repeated intermittent involuntary muscle contractions that were painful NOT_TRANSLATED -en nl HP:0011965 rdfs:label Abnormal circulating citrulline concentration Afwijking van citrulline metabolisme CANDIDATE -en nl HP:0011965 IAO:0000115 Any deviation from the normal concentration of citrulline in the blood circulation Any deviation from the normal concentration of citrulline in the blood circulation NOT_TRANSLATED -en nl HP:0011966 rdfs:label Elevated plasma citrulline Verhoogd plasma citrulline CANDIDATE -en nl HP:0011966 IAO:0000115 An increased concentration of citrulline in the blood An increased concentration of citrulline in the blood NOT_TRANSLATED -en nl HP:0011967 rdfs:label Decreased circulating copper concentration Hypocupremie CANDIDATE -en nl HP:0011967 IAO:0000115 A reduced concentration of copper in the blood A reduced concentration of copper in the blood NOT_TRANSLATED -en nl HP:0011968 rdfs:label Feeding difficulties Voedingsproblemen CANDIDATE -en nl HP:0011968 IAO:0000115 Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it NOT_TRANSLATED -en nl HP:0011969 rdfs:label Elevated circulating luteinizing hormone level Afgenomen circulerend niveau van het luteïniserend hormoon CANDIDATE -en nl HP:0011969 IAO:0000115 An elevated concentration of luteinizing hormone in the blood An elevated concentration of luteinizing hormone in the blood NOT_TRANSLATED -en nl HP:0011970 rdfs:label Cerebral amyloid angiopathy Cerebrale amyloid angiopathie CANDIDATE -en nl HP:0011970 IAO:0000115 Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system NOT_TRANSLATED -en nl HP:0011971 rdfs:label Dermatographic urticaria Dermatografische urticaria CANDIDATE -en nl HP:0011971 IAO:0000115 An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor) An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor) NOT_TRANSLATED -en nl HP:0011972 rdfs:label Hypoglycorrhachia Hypoglycorrhachie CANDIDATE -en nl HP:0011972 IAO:0000115 Abnormally low glucose concentration in the cerebrospinal fluid Abnormally low glucose concentration in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0011973 rdfs:label Paroxysmal lethargy Paroxysmale lethargie CANDIDATE -en nl HP:0011973 IAO:0000115 Repeated episodes of sudden-onset and transient lethargy Repeated episodes of sudden-onset and transient lethargy NOT_TRANSLATED -en nl HP:0011974 rdfs:label Myelofibrosis Myelofibrose CANDIDATE -en nl HP:0011974 IAO:0000115 Replacement of bone marrow by fibrous tissue Replacement of bone marrow by fibrous tissue NOT_TRANSLATED -en nl HP:0011975 rdfs:label Aminoglycoside-induced hearing loss Aminoglycoside-geïnduceerd gehoorverlies CANDIDATE -en nl HP:0011975 IAO:0000115 Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics NOT_TRANSLATED -en nl HP:0011976 rdfs:label Elevated urinary catecholamines Verhoogde urine catecholamines CANDIDATE -en nl HP:0011976 IAO:0000115 An increased concentration of catecholamine in the urine An increased concentration of catecholamine in the urine NOT_TRANSLATED -en nl HP:0011977 rdfs:label Elevated urinary homovanillic acid Verhoogd urine homovanille-zuur CANDIDATE -en nl HP:0011977 IAO:0000115 An increased concentration of homovanillic acid in the urine An increased concentration of homovanillic acid in the urine NOT_TRANSLATED -en nl HP:0011978 rdfs:label Elevated urinary vanillylmandelic acid Verhoogd urine vanillylmandelic zuur CANDIDATE -en nl HP:0011978 IAO:0000115 An increased concentration of vanillylmandelic acid in the urine An increased concentration of vanillylmandelic acid in the urine NOT_TRANSLATED -en nl HP:0011979 rdfs:label Elevated urinary dopamine Verhoogde urine dopamine CANDIDATE -en nl HP:0011979 IAO:0000115 An increased concentration of dopamine in the urine An increased concentration of dopamine in the urine NOT_TRANSLATED -en nl HP:0011980 rdfs:label Cholesterol gallstones Cholesterol galstenen CANDIDATE -en nl HP:0011980 IAO:0000115 Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color NOT_TRANSLATED -en nl HP:0011981 rdfs:label Pigment gallstones Pigment galstenen CANDIDATE -en nl HP:0011981 IAO:0000115 Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration NOT_TRANSLATED -en nl HP:0011982 rdfs:label Black pigment gallstones Zwart pigment galstenen CANDIDATE -en nl HP:0011982 IAO:0000115 A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates NOT_TRANSLATED -en nl HP:0011983 rdfs:label Brown pigment gallstones Bruin pigment galstenen CANDIDATE -en nl HP:0011983 IAO:0000115 A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones NOT_TRANSLATED -en nl HP:0011984 rdfs:label Atretic gallbladder Atretische galblaas CANDIDATE -en nl HP:0011984 IAO:0000115 Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia NOT_TRANSLATED -en nl HP:0011985 rdfs:label Acholic stools Acholische faeces CANDIDATE -en nl HP:0011985 IAO:0000115 Clay colored stools lacking bile pigment Clay colored stools lacking bile pigment NOT_TRANSLATED -en nl HP:0011986 rdfs:label Ectopic ossification Ectopische ossificatie CANDIDATE -en nl HP:0011986 IAO:0000115 Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist NOT_TRANSLATED -en nl HP:0011987 rdfs:label Ectopic ossification in muscle tissue Ectopische ossificatie in spierweefsel CANDIDATE -en nl HP:0011987 IAO:0000115 Formation of abnormal bony tissue within muscle tissue Formation of abnormal bony tissue within muscle tissue NOT_TRANSLATED -en nl HP:0011988 rdfs:label Ectopic ossification in tendon tissue Ectopische ossificatie in pees weefsel CANDIDATE -en nl HP:0011988 IAO:0000115 Formation of abnormal bony tissue within tendon tissue Formation of abnormal bony tissue within tendon tissue NOT_TRANSLATED -en nl HP:0011989 rdfs:label Ectopic ossification in ligament tissue Ectopische ossificatie in ligament weefsel CANDIDATE -en nl HP:0011989 IAO:0000115 Formation of abnormal bony tissue within ligament tissue Formation of abnormal bony tissue within ligament tissue NOT_TRANSLATED -en nl HP:0011990 rdfs:label Abnormality of neutrophil physiology Afwijking van neutrofiel fysiologie CANDIDATE -en nl HP:0011990 IAO:0000115 A functional abnormality of neutrophils A functional abnormality of neutrophils NOT_TRANSLATED -en nl HP:0011991 rdfs:label Abnormal neutrophil count Afwijkend aantal neutrofielen CANDIDATE -en nl HP:0011991 IAO:0000115 A deviation from the normal range of neutrophil cell counts in the circulation A deviation from the normal range of neutrophil cell counts in the circulation NOT_TRANSLATED -en nl HP:0011992 rdfs:label Abnormality of neutrophil morphology Afwijking van de neutrofiel morfologie CANDIDATE -en nl HP:0011992 IAO:0000115 An abnormal form or size of neutrophils An abnormal form or size of neutrophils NOT_TRANSLATED -en nl HP:0011993 rdfs:label Impaired neutrophil bactericidal activity Verminderde neutrofiele bactericide activiteit CANDIDATE -en nl HP:0011993 IAO:0000115 A reduction in the ability of neutrophils to kill bacteria A reduction in the ability of neutrophils to kill bacteria NOT_TRANSLATED -en nl HP:0011994 rdfs:label Abnormal atrial septum morphology Afwijkende atriale septum morfologie CANDIDATE -en nl HP:0011994 IAO:0000115 An abnormality of the interatrial septum An abnormality of the interatrial septum NOT_TRANSLATED -en nl HP:0011995 rdfs:label Atrial septal dilatation Atriale septale dilatatie CANDIDATE -en nl HP:0011995 IAO:0000115 A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography NOT_TRANSLATED -en nl HP:0011996 rdfs:label Elevated coagulation factor V activity Verhoogde factor V activiteit CANDIDATE -en nl HP:0011996 IAO:0000115 Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex NOT_TRANSLATED -en nl HP:0011997 rdfs:label Postprandial hyperlactemia Postprandiale hyperlactemie CANDIDATE -en nl HP:0011997 IAO:0000115 Abnormally increased level of blood lactate following a meal Abnormally increased level of blood lactate following a meal NOT_TRANSLATED -en nl HP:0011998 rdfs:label Postprandial hyperglycemia Postprandiale hyperglykemie CANDIDATE -en nl HP:0011998 IAO:0000115 An increased concentration of glucose in the blood following a meal An increased concentration of glucose in the blood following a meal NOT_TRANSLATED -en nl HP:0011999 rdfs:label Paranoia Paranoia CANDIDATE -en nl HP:0011999 IAO:0000115 A persecutory delusion of supposed hostility of others A persecutory delusion of supposed hostility of others NOT_TRANSLATED -en nl HP:0012000 rdfs:label EEG with generalized spikes EEG met gegeneraliseerde piekgolven CANDIDATE -en nl HP:0012000 IAO:0000115 EEG with generalized sharp transient waves of a duration less than 80 msec EEG with generalized sharp transient waves of a duration less than 80 msec NOT_TRANSLATED -en nl HP:0012001 rdfs:label EEG with generalized polyspikes EEG met gegeneraliseerde polypiekgolven CANDIDATE -en nl HP:0012001 IAO:0000115 EEG with repetitive generalized sharp transient waves of a duration less than 80 msec EEG with repetitive generalized sharp transient waves of a duration less than 80 msec NOT_TRANSLATED -en nl HP:0012002 rdfs:label Experiential epileptic aura Experiëntele auras CANDIDATE -en nl HP:0012002 IAO:0000115 Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context NOT_TRANSLATED -en nl HP:0012003 rdfs:label Affective epileptic aura Affectieve auras CANDIDATE -en nl HP:0012003 IAO:0000115 Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context NOT_TRANSLATED -en nl HP:0012004 rdfs:label Focal cognitive seizure with deja vu/jamais vu Mnemonische auras CANDIDATE -en nl HP:0012004 IAO:0000115 A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0012005 rdfs:label Deja vu aura Deja vu CANDIDATE -en nl HP:0012005 IAO:0000115 A subjective feeling that an experience which is occurring for the first time has been experienced before A subjective feeling that an experience which is occurring for the first time has been experienced before NOT_TRANSLATED -en nl HP:0012006 rdfs:label Jamais vu aura Jamais vu CANDIDATE -en nl HP:0012006 IAO:0000115 A subjective feeling that an experience which has occurred before is being experienced for the first time A subjective feeling that an experience which has occurred before is being experienced for the first time NOT_TRANSLATED -en nl HP:0012007 rdfs:label Focal cognitive seizure with hallucination Hallucinerende auras CANDIDATE -en nl HP:0012007 IAO:0000115 A focal cognitive seizure characterized by hallucination as the initial semiological manifestation A focal cognitive seizure characterized by hallucination as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0012008 rdfs:label Focal cognitive seizure with illusion Focal cognitive seizure with illusion NOT_TRANSLATED -en nl HP:0012008 IAO:0000115 A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0012009 rdfs:label EEG with central focal spike waves EEG met centrale focale piekgolven CANDIDATE -en nl HP:0012009 IAO:0000115 EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0012010 rdfs:label EEG with frontal focal spike waves EEG met frontale focale piekgolven CANDIDATE -en nl HP:0012010 IAO:0000115 EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0012011 rdfs:label EEG with occipital focal spike waves EEG met occipitale focale piekgolven CANDIDATE -en nl HP:0012011 IAO:0000115 EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0012012 rdfs:label EEG with parietal focal spike waves EEG met pariëtale focale piekgolven CANDIDATE -en nl HP:0012012 IAO:0000115 EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0012013 rdfs:label EEG with temporal focal spike waves EEG met temporale focale piekgolven CANDIDATE -en nl HP:0012013 IAO:0000115 EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0012014 rdfs:label EEG with central focal spikes EEG with central focal spikes NOT_TRANSLATED -en nl HP:0012014 IAO:0000115 EEG with focal sharp transient waves of a duration less than 80 msec in the central region EEG with focal sharp transient waves of a duration less than 80 msec in the central region NOT_TRANSLATED -en nl HP:0012015 rdfs:label EEG with frontal focal spikes EEG with frontal focal spikes NOT_TRANSLATED -en nl HP:0012015 IAO:0000115 EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region NOT_TRANSLATED -en nl HP:0012016 rdfs:label EEG with occipital focal spikes EEG with occipital focal spikes NOT_TRANSLATED -en nl HP:0012016 IAO:0000115 EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region NOT_TRANSLATED -en nl HP:0012017 rdfs:label EEG with parietal focal spikes EEG with parietal focal spikes NOT_TRANSLATED -en nl HP:0012017 IAO:0000115 EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region NOT_TRANSLATED -en nl HP:0012018 rdfs:label EEG with temporal focal spikes EEG with temporal focal spikes NOT_TRANSLATED -en nl HP:0012018 IAO:0000115 EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region NOT_TRANSLATED -en nl HP:0012019 rdfs:label Lens luxation Lens luxatie CANDIDATE -en nl HP:0012019 IAO:0000115 Complete dislocation of the lens of the eye Complete dislocation of the lens of the eye NOT_TRANSLATED -en nl HP:0012020 rdfs:label Right aortic arch Rechter aortaboog CANDIDATE -en nl HP:0012020 IAO:0000115 Aorta descends on right instead of on the left Aorta descends on right instead of on the left NOT_TRANSLATED -en nl HP:0012021 rdfs:label Persistent patent ductus venosus Persisterende patente ductus venosus CANDIDATE -en nl HP:0012021 IAO:0000115 Persistence of blood flow through the ductus venosus for longer than the normal time after birth Persistence of blood flow through the ductus venosus for longer than the normal time after birth NOT_TRANSLATED -en nl HP:0012022 rdfs:label Congenital portosystemic venous shunt Congenital portosystemic venous shunt NOT_TRANSLATED -en nl HP:0012022 IAO:0000115 A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver) A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver) NOT_TRANSLATED -en nl HP:0012023 rdfs:label Galactosuria Galactosurie CANDIDATE -en nl HP:0012023 IAO:0000115 Elevated concentration of galactose in the urine Elevated concentration of galactose in the urine NOT_TRANSLATED -en nl HP:0012024 rdfs:label Hypergalactosemia Hypergalactosemie CANDIDATE -en nl HP:0012024 IAO:0000115 Elevated concentration of galactose in the blood Elevated concentration of galactose in the blood NOT_TRANSLATED -en nl HP:0012025 rdfs:label Abnormal circulating ornithine concentration Afwijking van ornithine metabolisme CANDIDATE -en nl HP:0012025 IAO:0000115 Deviation from the normal concentration of ornithine in the blood circulation Deviation from the normal concentration of ornithine in the blood circulation NOT_TRANSLATED -en nl HP:0012026 rdfs:label Hyperornithinemia Hyperornithinemie CANDIDATE -en nl HP:0012026 IAO:0000115 Increased concentration of ornithine in the blood Increased concentration of ornithine in the blood NOT_TRANSLATED -en nl HP:0012027 rdfs:label Laryngeal edema Laryngeaal oedeem CANDIDATE -en nl HP:0012027 IAO:0000115 An abnormal accumulation of fluid and swelling in the tissues of the larynx An abnormal accumulation of fluid and swelling in the tissues of the larynx NOT_TRANSLATED -en nl HP:0012028 rdfs:label Hepatocellular adenoma Hepatocellulair adenoom CANDIDATE -en nl HP:0012028 IAO:0000115 A benign tumor of the liver of presumably epithelial origin A benign tumor of the liver of presumably epithelial origin NOT_TRANSLATED -en nl HP:0012029 rdfs:label Abnormal urine hormone level Afwijking van urine hormoon niveau CANDIDATE -en nl HP:0012029 IAO:0000115 An abnormal concentration of a hormone in the urine An abnormal concentration of a hormone in the urine NOT_TRANSLATED -en nl HP:0012030 rdfs:label Increased urinary cortisol level Toegenomen urine cortisol-niveau CANDIDATE -en nl HP:0012030 IAO:0000115 Abnormally increased concentration of cortisol in the urine Abnormally increased concentration of cortisol in the urine NOT_TRANSLATED -en nl HP:0012031 rdfs:label Lipomatous tumor Lipomateuze tumor CANDIDATE -en nl HP:0012032 rdfs:label Lipoma Lipoom CANDIDATE -en nl HP:0012032 IAO:0000115 Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous NOT_TRANSLATED -en nl HP:0012033 rdfs:label Sacral lipoma Sacraal lipoom CANDIDATE -en nl HP:0012033 IAO:0000115 Presence of a lipoma in the region of the sacrum Presence of a lipoma in the region of the sacrum NOT_TRANSLATED -en nl HP:0012034 rdfs:label Liposarcoma Liposarcoom CANDIDATE -en nl HP:0012034 IAO:0000115 Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway NOT_TRANSLATED -en nl HP:0012035 rdfs:label Steatocystoma multiplex Steatocystoma multiplex CANDIDATE -en nl HP:0012035 IAO:0000115 Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities) Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities) NOT_TRANSLATED -en nl HP:0012036 rdfs:label Sternocleidomastoid amyotrophy Sternocleidomastoideus amyotrofie CANDIDATE -en nl HP:0012036 IAO:0000115 Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head NOT_TRANSLATED -en nl HP:0012037 rdfs:label Pectoralis amyotrophy Pectoralis amyotrofie CANDIDATE -en nl HP:0012037 IAO:0000115 Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor NOT_TRANSLATED -en nl HP:0012038 rdfs:label Corneal guttata Cornea guttata CANDIDATE -en nl HP:0012038 IAO:0000115 Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible NOT_TRANSLATED -en nl HP:0012039 rdfs:label Descemet Membrane Folds Descemet Membrane Folds NOT_TRANSLATED -en nl HP:0012039 IAO:0000115 Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea NOT_TRANSLATED -en nl HP:0012040 rdfs:label Corneal stromal edema Corneal stromal edema NOT_TRANSLATED -en nl HP:0012040 IAO:0000115 Abnormal accumulation of fluid and swelling of the stroma of cornea Abnormal accumulation of fluid and swelling of the stroma of cornea NOT_TRANSLATED -en nl HP:0012041 rdfs:label Decreased fertility in males Verminderde vruchtbaarheid in mannen CANDIDATE -en nl HP:0012042 rdfs:label Aspirin-induced asthma Aspirine-geïnduceerde astma CANDIDATE -en nl HP:0012042 IAO:0000115 A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction NOT_TRANSLATED -en nl HP:0012043 rdfs:label Pendular nystagmus Pendulaire nystagmus CANDIDATE -en nl HP:0012043 IAO:0000115 Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction NOT_TRANSLATED -en nl HP:0012044 rdfs:label Seesaw nystagmus Seesaw nystagmus NOT_TRANSLATED -en nl HP:0012044 IAO:0000115 Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements NOT_TRANSLATED -en nl HP:0012045 rdfs:label Retinal flecks Retinal flecks NOT_TRANSLATED -en nl HP:0012045 IAO:0000115 Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions NOT_TRANSLATED -en nl HP:0012046 rdfs:label Areflexia of upper limbs Areflexie van bovenste extremiteiten CANDIDATE -en nl HP:0012046 IAO:0000115 Inability to elicit tendon reflexes in the upper limbs Inability to elicit tendon reflexes in the upper limbs NOT_TRANSLATED -en nl HP:0012047 rdfs:label Hemeralopia Hemeralopie CANDIDATE -en nl HP:0012047 IAO:0000115 A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness NOT_TRANSLATED -en nl HP:0012048 rdfs:label Oromandibular dystonia Oromandibulaire dystonie CANDIDATE -en nl HP:0012048 IAO:0000115 A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech NOT_TRANSLATED -en nl HP:0012049 rdfs:label Laryngeal dystonia Laryngeale dystonie CANDIDATE -en nl HP:0012049 IAO:0000115 A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech NOT_TRANSLATED -en nl HP:0012050 rdfs:label Anasarca Anasarca CANDIDATE -en nl HP:0012050 IAO:0000115 An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space NOT_TRANSLATED -en nl HP:0012051 rdfs:label Reactive hypoglycemia Reactieve hypoglykemie CANDIDATE -en nl HP:0012051 IAO:0000115 Hypoglycermia following a meal (or more generally, after intake of glucose) Hypoglycermia following a meal (or more generally, after intake of glucose) NOT_TRANSLATED -en nl HP:0012052 rdfs:label Low serum calcitriol Laag serum calcitriol CANDIDATE -en nl HP:0012052 IAO:0000115 A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 NOT_TRANSLATED -en nl HP:0012053 rdfs:label Decreased circulating calcifediol concentration Laag serum calcifediol CANDIDATE -en nl HP:0012053 IAO:0000115 A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3 A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3 NOT_TRANSLATED -en nl HP:0012054 rdfs:label Choroidal melanoma Choroïdaal melanoom CANDIDATE -en nl HP:0012054 IAO:0000115 Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented) Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented) NOT_TRANSLATED -en nl HP:0012055 rdfs:label Ciliary body melanoma Straalvormig lichaam melanoom CANDIDATE -en nl HP:0012055 IAO:0000115 Malignant tumor of melanocytes of the ciliary body Malignant tumor of melanocytes of the ciliary body NOT_TRANSLATED -en nl HP:0012056 rdfs:label Cutaneous melanoma Cutaan melanoom CANDIDATE -en nl HP:0012056 IAO:0000115 The presence of a melanoma of the skin The presence of a melanoma of the skin NOT_TRANSLATED -en nl HP:0012057 rdfs:label Superficial spreading melanoma Superficieel verspreidend melanoom CANDIDATE -en nl HP:0012057 IAO:0000115 A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown NOT_TRANSLATED -en nl HP:0012058 rdfs:label Nodular melanoma Nodulair melanoom CANDIDATE -en nl HP:0012058 IAO:0000115 A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color NOT_TRANSLATED -en nl HP:0012059 rdfs:label Lentigo maligna melanoma Lentigo maligna melanoma CANDIDATE -en nl HP:0012059 IAO:0000115 A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging NOT_TRANSLATED -en nl HP:0012060 rdfs:label Acral lentiginous melanoma Acraal lentigineus melanoom CANDIDATE -en nl HP:0012060 IAO:0000115 A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed NOT_TRANSLATED -en nl HP:0012061 rdfs:label Urinary excretion of sialylated oligosaccharides Urine excretie van gesialyseerde oligosaccharides CANDIDATE -en nl HP:0012061 IAO:0000115 Excretion of oligosaccharides conjugated to sialic acid in the urine Excretion of oligosaccharides conjugated to sialic acid in the urine NOT_TRANSLATED -en nl HP:0012062 rdfs:label Bone cyst Bot cyste CANDIDATE -en nl HP:0012062 IAO:0000115 A fluid filled cavity that develops with a bone A fluid filled cavity that develops with a bone NOT_TRANSLATED -en nl HP:0012063 rdfs:label Aneurysmal bone cyst Aneurysmale bot cyste CANDIDATE -en nl HP:0012063 IAO:0000115 Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging NOT_TRANSLATED -en nl HP:0012064 rdfs:label Unicameral bone cyst Unicamerale botcyste CANDIDATE -en nl HP:0012064 IAO:0000115 A benign fluid filled simple cyst of bone filled with serous fluid A benign fluid filled simple cyst of bone filled with serous fluid NOT_TRANSLATED -en nl HP:0012065 rdfs:label Multiple bony cystic lesions Multipele benige cysteuze laesies CANDIDATE -en nl HP:0012065 IAO:0000115 Presence of multiple cystic changes in multiple areas or multiple bones Presence of multiple cystic changes in multiple areas or multiple bones NOT_TRANSLATED -en nl HP:0012066 rdfs:label Increased urinary disaccharide excretion Verhoogde urine excretie disaccharide CANDIDATE -en nl HP:0012066 IAO:0000115 Increased concentration of disaccharide in the urine Increased concentration of disaccharide in the urine NOT_TRANSLATED -en nl HP:0012067 rdfs:label Glycopeptiduria Glycopeptidurie CANDIDATE -en nl HP:0012067 IAO:0000115 Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues NOT_TRANSLATED -en nl HP:0012068 rdfs:label Aspartylglucosaminuria Aspartylglucosaminurie CANDIDATE -en nl HP:0012068 IAO:0000115 Excretion of excess amounts of aspartylglucosamine in the urine Excretion of excess amounts of aspartylglucosamine in the urine NOT_TRANSLATED -en nl HP:0012069 rdfs:label Keratan sulfate excretion in urine Kerataan sulfaat excretie in urine CANDIDATE -en nl HP:0012069 IAO:0000115 An increased concentration of keratan sulfate in the urine An increased concentration of keratan sulfate in the urine NOT_TRANSLATED -en nl HP:0012070 rdfs:label Chondroitin sulfate excretion in urine Chondroïtinesulfaat excretie in de urine CANDIDATE -en nl HP:0012070 IAO:0000115 An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine NOT_TRANSLATED -en nl HP:0012071 rdfs:label Abnormal circulating acetylcarnitine concentration Afwijking van het acetyl-l-carnitine metabolisme CANDIDATE -en nl HP:0012071 IAO:0000115 Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED -en nl HP:0012072 rdfs:label Aciduria Acidurie CANDIDATE -en nl HP:0012072 IAO:0000115 Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration NOT_TRANSLATED -en nl HP:0012073 rdfs:label Abnormal urinary acylglycine profile Afwijkend urine acylglycine profiel CANDIDATE -en nl HP:0012073 IAO:0000115 An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution NOT_TRANSLATED -en nl HP:0012074 rdfs:label Tonic pupil Tonische pupil CANDIDATE -en nl HP:0012074 IAO:0000115 An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation NOT_TRANSLATED -en nl HP:0012075 rdfs:label Personality disorder Persoonlijkheidsstoornis CANDIDATE -en nl HP:0012075 IAO:0000115 An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder NOT_TRANSLATED -en nl HP:0012076 rdfs:label Borderline personality disorder Borderline persoonlijkheidsstoornis CANDIDATE -en nl HP:0012076 IAO:0000115 A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions NOT_TRANSLATED -en nl HP:0012077 rdfs:label Histrionic personality disorder Theatrale persoonlijkheidsstoornis CANDIDATE -en nl HP:0012077 IAO:0000115 A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention NOT_TRANSLATED -en nl HP:0012078 rdfs:label Motor conduction block Motor conduction block NOT_TRANSLATED -en nl HP:0012078 IAO:0000115 Blockade of impulses at a focal site along the course of a motor axon Blockade of impulses at a focal site along the course of a motor axon NOT_TRANSLATED -en nl HP:0012079 rdfs:label Abnormality of central motor conduction Afwijking van de centrale motorische geleiding CANDIDATE -en nl HP:0012079 IAO:0000115 Any anomaly of the conduction of motor nerve impulses in the central nervous system Any anomaly of the conduction of motor nerve impulses in the central nervous system NOT_TRANSLATED -en nl HP:0012080 rdfs:label Cerebellar granular layer atrophy Cerebellar granular layer atrophy NOT_TRANSLATED -en nl HP:0012080 IAO:0000115 Atrophy of the cerebellum affecting primarily the granular cell layer Atrophy of the cerebellum affecting primarily the granular cell layer NOT_TRANSLATED -en nl HP:0012081 rdfs:label Enlarged cerebellum Vergroot cerebellum CANDIDATE -en nl HP:0012081 IAO:0000115 An abnormally increased size of the cerebellum compared to other brain structures An abnormally increased size of the cerebellum compared to other brain structures NOT_TRANSLATED -en nl HP:0012082 rdfs:label Cerebellar Purkinje layer atrophy Atrofie laag van Purkinje in cerebellum CANDIDATE -en nl HP:0012082 IAO:0000115 Atrophy of the cerebellum affecting primarily the Purkinje cell layer Atrophy of the cerebellum affecting primarily the Purkinje cell layer NOT_TRANSLATED -en nl HP:0012083 rdfs:label Ubiquitin-positive cerebral inclusion bodies Ubiquitine-positieve cerebrale inclusielichaampjes CANDIDATE -en nl HP:0012083 IAO:0000115 Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain NOT_TRANSLATED -en nl HP:0012084 rdfs:label Abnormality of skeletal muscle fiber size Afwijking van skeletspier vezel grootte CANDIDATE -en nl HP:0012084 IAO:0000115 Any abnormality of the size of the skeletal muscle cell Any abnormality of the size of the skeletal muscle cell NOT_TRANSLATED -en nl HP:0012085 rdfs:label Pyuria Pyurie CANDIDATE -en nl HP:0012085 IAO:0000115 The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase NOT_TRANSLATED -en nl HP:0012086 rdfs:label Abnormal urinary color Afwijkende urine kleur CANDIDATE -en nl HP:0012086 IAO:0000115 An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color NOT_TRANSLATED -en nl HP:0012087 rdfs:label Abnormal mitochondrial shape Afwijkende mitochondriale vorm CANDIDATE -en nl HP:0012087 IAO:0000115 An anomaly in the surface contour of mitochondria An anomaly in the surface contour of mitochondria NOT_TRANSLATED -en nl HP:0012088 rdfs:label Abnormal urinary odor Afwijkende urine geur CANDIDATE -en nl HP:0012088 IAO:0000115 A deviation from the normal odor of the urine A deviation from the normal odor of the urine NOT_TRANSLATED -en nl HP:0012089 rdfs:label Arteritis Arteritis CANDIDATE -en nl HP:0012089 IAO:0000115 Arterial inflammation Arterial inflammation NOT_TRANSLATED -en nl HP:0012090 rdfs:label Abnormal pancreas morphology Afwijking van pancreas morfologie CANDIDATE -en nl HP:0012091 rdfs:label Abnormality of pancreas physiology Afwijking van de pancreas fysiologie CANDIDATE -en nl HP:0012091 IAO:0000115 An anomaly of the function of the pancreas An anomaly of the function of the pancreas NOT_TRANSLATED -en nl HP:0012092 rdfs:label Abnormality of exocrine pancreas physiology Afwijking van de exocriene pancreas fysiologie CANDIDATE -en nl HP:0012092 IAO:0000115 A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes NOT_TRANSLATED -en nl HP:0012093 rdfs:label Abnormality of endocrine pancreas physiology Afwijking van de endocriene pancreas fysiologie CANDIDATE -en nl HP:0012093 IAO:0000115 A function abnormality of the endocrine pancreas A function abnormality of the endocrine pancreas NOT_TRANSLATED -en nl HP:0012094 rdfs:label Abnormal pancreas size Afwijkende pancreas grootte CANDIDATE -en nl HP:0012094 IAO:0000115 A deviation from the normal size of the pancreas A deviation from the normal size of the pancreas NOT_TRANSLATED -en nl HP:0012095 rdfs:label Multiple joint dislocation Multipele gewrichts dislocatie CANDIDATE -en nl HP:0012095 IAO:0000115 Dislocation of many joints Dislocation of many joints NOT_TRANSLATED -en nl HP:0012096 rdfs:label Intracranial epidermoid cyst Intracraniële epidermoid cyste CANDIDATE -en nl HP:0012096 IAO:0000115 A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development NOT_TRANSLATED -en nl HP:0012097 rdfs:label Intracranial dermoid cyst Intracraniële dermoidcyste CANDIDATE -en nl HP:0012097 IAO:0000115 A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands NOT_TRANSLATED -en nl HP:0012098 rdfs:label Edema of the dorsum of feet Oedeem van de dorsum van voeten CANDIDATE -en nl HP:0012098 IAO:0000115 An abnormal accumulation of fluid beneath the skin on the back of the feet An abnormal accumulation of fluid beneath the skin on the back of the feet NOT_TRANSLATED -en nl HP:0012099 rdfs:label Abnormality of circulating catecholamine level Afwijking van circulerend catecholamine niveau CANDIDATE -en nl HP:0012099 IAO:0000115 An abnormal catecholamine concentration in the blood An abnormal catecholamine concentration in the blood NOT_TRANSLATED -en nl HP:0012100 rdfs:label Abnormal circulating creatinine concentration Afwijkend circulerend niveau van creatinine CANDIDATE -en nl HP:0012100 IAO:0000115 An abnormal concentration of creatinine in the blood An abnormal concentration of creatinine in the blood NOT_TRANSLATED -en nl HP:0012101 rdfs:label Decreased serum creatinine Verlaagd serum creatinine CANDIDATE -en nl HP:0012101 IAO:0000115 An abnormally reduced amount of creatinine in the blood An abnormally reduced amount of creatinine in the blood NOT_TRANSLATED -en nl HP:0012102 rdfs:label Abnormal mitochondrial number Afwijkend aantal van mitochondriën CANDIDATE -en nl HP:0012102 IAO:0000115 A deviation from the normal number of mitochondria per cell A deviation from the normal number of mitochondria per cell NOT_TRANSLATED -en nl HP:0012103 rdfs:label Abnormality of the mitochondrion Afwijking van het mitochondrion CANDIDATE -en nl HP:0012103 IAO:0000115 An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration NOT_TRANSLATED -en nl HP:0012104 rdfs:label Parietal cortical atrophy Pariëtale corticale atrofie CANDIDATE -en nl HP:0012104 IAO:0000115 Atrophy of the parietal cortex Atrophy of the parietal cortex NOT_TRANSLATED -en nl HP:0012105 rdfs:label Occipital cortical atrophy Occipitale corticale atrofie CANDIDATE -en nl HP:0012105 IAO:0000115 Atrophy of the occipital cortex Atrophy of the occipital cortex NOT_TRANSLATED -en nl HP:0012106 rdfs:label Rhizomelic leg shortening Rhizomelische been verkorting CANDIDATE -en nl HP:0012106 IAO:0000115 Disproportionate shortening of the proximal segment of the leg (i.e. the femur) Disproportionate shortening of the proximal segment of the leg (i.e. the femur) NOT_TRANSLATED -en nl HP:0012107 rdfs:label Increased fibular diameter Verhoogde fibulaire diameter CANDIDATE -en nl HP:0012107 IAO:0000115 Increased width of the cross sectional diameter of the fibula Increased width of the cross sectional diameter of the fibula NOT_TRANSLATED -en nl HP:0012108 rdfs:label Open angle glaucoma Open kamerhoek glaucoom CANDIDATE -en nl HP:0012108 IAO:0000115 A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, NOT_TRANSLATED -en nl HP:0012109 rdfs:label Angle closure glaucoma Angle closure glaucoma NOT_TRANSLATED -en nl HP:0012109 IAO:0000115 A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact) A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact) NOT_TRANSLATED -en nl HP:0012110 rdfs:label Hypoplasia of the pons Hypoplasie van de pons CANDIDATE -en nl HP:0012110 IAO:0000115 Underdevelopment of the pons Underdevelopment of the pons NOT_TRANSLATED -en nl HP:0012111 rdfs:label Abnormality of circulating glucocorticoid level Afwijking van circulerend glucocorticoïd-niveau CANDIDATE -en nl HP:0012111 IAO:0000115 An abnormality of the concentration of a glucocorticoid in the blood An abnormality of the concentration of a glucocorticoid in the blood NOT_TRANSLATED -en nl HP:0012112 rdfs:label Abnormal circulating corticosterone level Afwijking van circulerend corticosteron-niveau CANDIDATE -en nl HP:0012112 IAO:0000115 An abnormality of the concentration of corticosterone in the blood An abnormality of the concentration of corticosterone in the blood NOT_TRANSLATED -en nl HP:0012113 rdfs:label Abnormal circulating creatine concentration Afwijking van creatine metabolisme CANDIDATE -en nl HP:0012113 IAO:0000115 A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells NOT_TRANSLATED -en nl HP:0012114 rdfs:label Endometrial carcinoma Endometriumcarcinoom CANDIDATE -en nl HP:0012114 IAO:0000115 A carcinoma of the endometrium, the mucous lining of the uterus A carcinoma of the endometrium, the mucous lining of the uterus NOT_TRANSLATED -en nl HP:0012115 rdfs:label Hepatitis Hepatitis CANDIDATE -en nl HP:0012115 IAO:0000115 Inflammation of the liver Inflammation of the liver NOT_TRANSLATED -en nl HP:0012116 rdfs:label Abnormal circulating albumin concentration Afwijkend albumine niveau CANDIDATE -en nl HP:0012116 IAO:0000115 Deviation from normal concentration of albumin in the blood Deviation from normal concentration of albumin in the blood NOT_TRANSLATED -en nl HP:0012117 rdfs:label Hyperalbuminemia Hyperalbuminemie CANDIDATE -en nl HP:0012117 IAO:0000115 Elevation in the concentration of albumin in the blood Elevation in the concentration of albumin in the blood NOT_TRANSLATED -en nl HP:0012118 rdfs:label Laryngeal carcinoma Larynxcarcinoom CANDIDATE -en nl HP:0012118 IAO:0000115 A carcinoma of the larynx A carcinoma of the larynx NOT_TRANSLATED -en nl HP:0012119 rdfs:label Methemoglobinemia Methemoglobinemie CANDIDATE -en nl HP:0012119 IAO:0000115 Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues NOT_TRANSLATED -en nl HP:0012120 rdfs:label Methylmalonic aciduria Methylmalonacidurie CANDIDATE -en nl HP:0012120 IAO:0000115 Increased concentration of methylmalonic acid in the urine Increased concentration of methylmalonic acid in the urine NOT_TRANSLATED -en nl HP:0012121 rdfs:label Panuveitis Panuveïtis CANDIDATE -en nl HP:0012121 IAO:0000115 Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid NOT_TRANSLATED -en nl HP:0012122 rdfs:label Anterior uveitis Anterieure uveïtis CANDIDATE -en nl HP:0012122 IAO:0000115 Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber NOT_TRANSLATED -en nl HP:0012123 rdfs:label Posterior uveitis Posterieure uveïtis CANDIDATE -en nl HP:0012123 IAO:0000115 Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid NOT_TRANSLATED -en nl HP:0012124 rdfs:label Intermediate uveitis Intermediaire uveïtis CANDIDATE -en nl HP:0012124 IAO:0000115 Inflammation of the uveal tract in which the primary site of inflammation is the vitreous Inflammation of the uveal tract in which the primary site of inflammation is the vitreous NOT_TRANSLATED -en nl HP:0012125 rdfs:label Prostate cancer Prostaatkanker CANDIDATE -en nl HP:0012125 IAO:0000115 A cancer of the prostate A cancer of the prostate NOT_TRANSLATED -en nl HP:0012126 rdfs:label Stomach cancer Maagkanker CANDIDATE -en nl HP:0012126 IAO:0000115 A cancer arising in any part of the stomach A cancer arising in any part of the stomach NOT_TRANSLATED -en nl HP:0012127 rdfs:label Uraciluria Uracilurie CANDIDATE -en nl HP:0012127 IAO:0000115 Increased concentration of uracil in the urine Increased concentration of uracil in the urine NOT_TRANSLATED -en nl HP:0012128 rdfs:label Basal ganglia necrosis Basale ganglia necrose CANDIDATE -en nl HP:0012128 IAO:0000115 Death of cells in the basal ganglia Death of cells in the basal ganglia NOT_TRANSLATED -en nl HP:0012129 rdfs:label Abnormality of bone marrow stromal cells Afwijking van de beenmerg stromale cellen CANDIDATE -en nl HP:0012130 rdfs:label Abnormal erythroid lineage cell morphology Afwijkende erytroïde cellijn morfologie CANDIDATE -en nl HP:0012130 IAO:0000115 An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes NOT_TRANSLATED -en nl HP:0012131 rdfs:label Abnormal number of erythroid precursors Afwijkend aantal van erytroïde voorlopers CANDIDATE -en nl HP:0012131 IAO:0000115 A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow NOT_TRANSLATED -en nl HP:0012132 rdfs:label Erythroid hyperplasia Erytroïde hyperplasie CANDIDATE -en nl HP:0012132 IAO:0000115 Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow NOT_TRANSLATED -en nl HP:0012133 rdfs:label Erythroid hypoplasia Erytroïde hypoplasie CANDIDATE -en nl HP:0012133 IAO:0000115 Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow NOT_TRANSLATED -en nl HP:0012134 rdfs:label Dysplastic erythropoesis Dysplastische erytropoëse CANDIDATE -en nl HP:0012135 rdfs:label Abnormal granulocytopoietic cell morphology Afwijkende granulocytopoietische cel morfologie CANDIDATE -en nl HP:0012135 IAO:0000115 An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell NOT_TRANSLATED -en nl HP:0012136 rdfs:label Dysplastic granulopoesis Dysplastische granulopoese CANDIDATE -en nl HP:0012137 rdfs:label Abnormal number of granulocyte precursors Afwijkend aantal van granulocyten voorlopers CANDIDATE -en nl HP:0012138 rdfs:label Granulocytic hyperplasia Granulocytische hyperplasie CANDIDATE -en nl HP:0012139 rdfs:label Granulocytic hypoplasia Granulocytische hypoplasie CANDIDATE -en nl HP:0012139 IAO:0000115 Decreased number of granulocyte precursors in the bone marrow Decreased number of granulocyte precursors in the bone marrow NOT_TRANSLATED -en nl HP:0012142 rdfs:label Pancreatic squamous cell carcinoma Pancreas plaveiselcelcarcinoom CANDIDATE -en nl HP:0012142 IAO:0000115 A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium NOT_TRANSLATED -en nl HP:0012143 rdfs:label Abnormal megakaryocyte morphology Afwijkende megakaryocyt morfologie CANDIDATE -en nl HP:0012143 IAO:0000115 Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells NOT_TRANSLATED -en nl HP:0012144 rdfs:label Abnormal monocyte morphology Afwijkende monocyt morfologie CANDIDATE -en nl HP:0012144 IAO:0000115 Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells NOT_TRANSLATED -en nl HP:0012145 rdfs:label Abnormality of multiple cell lineages in the bone marrow Afwijking van multipele cellijnen in beenmerg CANDIDATE -en nl HP:0012146 rdfs:label Abnormality of von Willebrand factor Afwijking van de von Willebrand-factor CANDIDATE -en nl HP:0012146 IAO:0000115 Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces NOT_TRANSLATED -en nl HP:0012147 rdfs:label Reduced quantity of Von Willebrand factor Verminderde hoeveelheid Von Willebrand-factor CANDIDATE -en nl HP:0012147 IAO:0000115 Decreased quantity of von Willebrand factor Decreased quantity of von Willebrand factor NOT_TRANSLATED -en nl HP:0012148 rdfs:label Multiple lineage myelodysplasia Myelodysplasie van multipele cellijnen CANDIDATE -en nl HP:0012148 IAO:0000115 Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic NOT_TRANSLATED -en nl HP:0012149 rdfs:label Bilineage myelodysplasia Myelodysplasie van twee cellijnen CANDIDATE -en nl HP:0012149 IAO:0000115 Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic NOT_TRANSLATED -en nl HP:0012150 rdfs:label Single lineage myelodysplasia Myelodysplasie van één cellijn CANDIDATE -en nl HP:0012150 IAO:0000115 Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic) Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic) NOT_TRANSLATED -en nl HP:0012151 rdfs:label Hemothorax Hemothorax CANDIDATE -en nl HP:0012151 IAO:0000115 The presence of blood in the pleural space The presence of blood in the pleural space NOT_TRANSLATED -en nl HP:0012152 rdfs:label Foveoschisis Foveoschisis CANDIDATE -en nl HP:0012152 IAO:0000115 Splitting of the retinal layers in the macula Splitting of the retinal layers in the macula NOT_TRANSLATED -en nl HP:0012153 rdfs:label Hypotriglyceridemia Hypotriglyceridemie CANDIDATE -en nl HP:0012153 IAO:0000115 An decrease in the level of triglycerides in the blood An decrease in the level of triglycerides in the blood NOT_TRANSLATED -en nl HP:0012154 rdfs:label Anhedonia Anhedonie CANDIDATE -en nl HP:0012154 IAO:0000115 Inability to experience pleasure activities usually found enjoyable Inability to experience pleasure activities usually found enjoyable NOT_TRANSLATED -en nl HP:0012155 rdfs:label Decreased corneal sensation Verminderde corneale sensatie CANDIDATE -en nl HP:0012155 IAO:0000115 Reduced ability of the cornea to respond to stimulation Reduced ability of the cornea to respond to stimulation NOT_TRANSLATED -en nl HP:0012156 rdfs:label Hemophagocytosis Hemofagocytose CANDIDATE -en nl HP:0012156 IAO:0000115 Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues NOT_TRANSLATED -en nl HP:0012157 rdfs:label Subcortical cerebral atrophy Subcorticale cerebrale atrofie CANDIDATE -en nl HP:0012157 IAO:0000115 Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter NOT_TRANSLATED -en nl HP:0012158 rdfs:label Carotid artery dissection Arteria carotis dissectie CANDIDATE -en nl HP:0012158 IAO:0000115 A separation (dissection) of the layers of the carotid artery wall A separation (dissection) of the layers of the carotid artery wall NOT_TRANSLATED -en nl HP:0012159 rdfs:label Internal carotid artery dissection Arteria carotis interna dissectie CANDIDATE -en nl HP:0012159 IAO:0000115 A separation (dissection) of the layers of the internal carotid artery wall A separation (dissection) of the layers of the internal carotid artery wall NOT_TRANSLATED -en nl HP:0012160 rdfs:label Intracranial internal carotid artery dissection Intracraniale arteria carotis interna dissectie CANDIDATE -en nl HP:0012160 IAO:0000115 A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall NOT_TRANSLATED -en nl HP:0012161 rdfs:label External carotid artery dissection Arteria carotis externa dissectie CANDIDATE -en nl HP:0012161 IAO:0000115 A separation (dissection) of the layers of the external carotid artery wall A separation (dissection) of the layers of the external carotid artery wall NOT_TRANSLATED -en nl HP:0012162 rdfs:label Common carotid artery dissection Arteria carotis communis dissectie CANDIDATE -en nl HP:0012162 IAO:0000115 A separation (dissection) of the layers of the common carotid artery wall A separation (dissection) of the layers of the common carotid artery wall NOT_TRANSLATED -en nl HP:0012163 rdfs:label Carotid artery dilatation Arteria carotis dilatatie CANDIDATE -en nl HP:0012163 IAO:0000115 A dilatation (balooning or bulging out of the vessel wall) of a carotid artery A dilatation (balooning or bulging out of the vessel wall) of a carotid artery NOT_TRANSLATED -en nl HP:0012164 rdfs:label Asterixis Asterixis CANDIDATE -en nl HP:0012164 IAO:0000115 A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints NOT_TRANSLATED -en nl HP:0012165 rdfs:label Oligodactyly Oligodactylie CANDIDATE -en nl HP:0012165 IAO:0000115 A developmental defect resulting in the presence of fewer than the normal number of digits A developmental defect resulting in the presence of fewer than the normal number of digits NOT_TRANSLATED -en nl HP:0012166 rdfs:label Skin-picking Skin-picking CANDIDATE -en nl HP:0012166 IAO:0000115 Repetitive and compulsive picking of skin which results in tissue damage Repetitive and compulsive picking of skin which results in tissue damage NOT_TRANSLATED -en nl HP:0012167 rdfs:label Hair-pulling Haren trekken CANDIDATE -en nl HP:0012167 IAO:0000115 A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss NOT_TRANSLATED -en nl HP:0012168 rdfs:label Head-banging Head-banging CANDIDATE -en nl HP:0012168 IAO:0000115 Habitual striking of one's own head against a surface such as a mattress or wall of a crib Habitual striking of one's own head against a surface such as a mattress or wall of a crib NOT_TRANSLATED -en nl HP:0012169 rdfs:label Self-biting Zelf bijten CANDIDATE -en nl HP:0012169 IAO:0000115 Habitual biting of one's own body Habitual biting of one's own body NOT_TRANSLATED -en nl HP:0012170 rdfs:label Nail-biting Nagel bijten CANDIDATE -en nl HP:0012170 IAO:0000115 Habitual biting of one's own fingernails Habitual biting of one's own fingernails NOT_TRANSLATED -en nl HP:0012171 rdfs:label Stereotypical hand wringing Stereotypisch hand wrijven CANDIDATE -en nl HP:0012171 IAO:0000115 Habitual clasping and squeezing of the hands Habitual clasping and squeezing of the hands NOT_TRANSLATED -en nl HP:0012172 rdfs:label Stereotypical body rocking Stereotypical body rocking NOT_TRANSLATED -en nl HP:0012172 IAO:0000115 Habitual repetitive movement of the body Habitual repetitive movement of the body NOT_TRANSLATED -en nl HP:0012173 rdfs:label Orthostatic tachycardia Orthostatische tachycardie CANDIDATE -en nl HP:0012173 IAO:0000115 An increase in heart rate with standing of 30 beats per minute or more An increase in heart rate with standing of 30 beats per minute or more NOT_TRANSLATED -en nl HP:0012174 rdfs:label Glioblastoma multiforme Glioblastoma multiforme CANDIDATE -en nl HP:0012174 IAO:0000115 A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation NOT_TRANSLATED -en nl HP:0012175 rdfs:label Resistance to activated protein C Weerstand tegen geactiveerd proteïne C CANDIDATE -en nl HP:0012175 IAO:0000115 Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay NOT_TRANSLATED -en nl HP:0012176 rdfs:label Abnormal natural killer cell morphology Afwijkende natural killer cel morfologie CANDIDATE -en nl HP:0012176 IAO:0000115 An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells NOT_TRANSLATED -en nl HP:0012177 rdfs:label Abnormal natural killer cell physiology Afwijkende natural killer cel fysiologie CANDIDATE -en nl HP:0012177 IAO:0000115 A functional anomaly of the natural killer cell A functional anomaly of the natural killer cell NOT_TRANSLATED -en nl HP:0012178 rdfs:label Reduced natural killer cell activity Verminderde natural killer cel activiteit CANDIDATE -en nl HP:0012178 IAO:0000115 Reduced ability of the natural killer cell to function in the adaptive immune response Reduced ability of the natural killer cell to function in the adaptive immune response NOT_TRANSLATED -en nl HP:0012179 rdfs:label Craniofacial dystonia Craniofaciale dystonie CANDIDATE -en nl HP:0012179 IAO:0000115 A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia NOT_TRANSLATED -en nl HP:0012180 rdfs:label Cystic medial necrosis Cysteuze mediale necrose CANDIDATE -en nl HP:0012180 IAO:0000115 A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells NOT_TRANSLATED -en nl HP:0012181 rdfs:label Entrapment neuropathy Entrapment neuropathie CANDIDATE -en nl HP:0012181 IAO:0000115 Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss NOT_TRANSLATED -en nl HP:0012182 rdfs:label Oropharyngeal squamous cell carcinoma Orofaryngeaal plaveiselcelcarcinoom CANDIDATE -en nl HP:0012182 IAO:0000115 A squamous cell carcinoma that originates in the oropharnyx A squamous cell carcinoma that originates in the oropharnyx NOT_TRANSLATED -en nl HP:0012183 rdfs:label Hyperplastic colonic polyposis Hyperplastische colonische polyposis CANDIDATE -en nl HP:0012183 IAO:0000115 Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation NOT_TRANSLATED -en nl HP:0012184 rdfs:label Increased HDL cholesterol concentration Toegenomen niveau van circulerende high-density-lipoproteïnen CANDIDATE -en nl HP:0012184 IAO:0000115 An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood NOT_TRANSLATED -en nl HP:0012185 rdfs:label Constrictive median neuropathy Constrictieve mediane neuropathie CANDIDATE -en nl HP:0012185 IAO:0000115 Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand NOT_TRANSLATED -en nl HP:0012186 rdfs:label Entrapment neuropathy of the ulnar nerve at elbow Entrapment neuropathie van de nervus ulnaris bij de elleboog CANDIDATE -en nl HP:0012186 IAO:0000115 An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand NOT_TRANSLATED -en nl HP:0012187 rdfs:label Increased erythrocyte protoporphyrin concentration Toegenomen erytrocyt protoporfyrine concentratie CANDIDATE -en nl HP:0012187 IAO:0000115 An increased concentration of protoporphyrins in erythrocytes An increased concentration of protoporphyrins in erythrocytes NOT_TRANSLATED -en nl HP:0012188 rdfs:label Hyperemesis gravidarum Hyperemesis gravidarum CANDIDATE -en nl HP:0012188 IAO:0000115 Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight NOT_TRANSLATED -en nl HP:0012189 rdfs:label Hodgkin lymphoma Hodgkin lymfoom CANDIDATE -en nl HP:0012189 IAO:0000115 A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells NOT_TRANSLATED -en nl HP:0012190 rdfs:label T-cell lymphoma T-cell lymfoom CANDIDATE -en nl HP:0012190 IAO:0000115 A type of lymphoma that originates in T-cells A type of lymphoma that originates in T-cells NOT_TRANSLATED -en nl HP:0012191 rdfs:label B-cell lymphoma B-cell lymfoom CANDIDATE -en nl HP:0012191 IAO:0000115 A type of lymphoma that originates in B-cells A type of lymphoma that originates in B-cells NOT_TRANSLATED -en nl HP:0012192 rdfs:label Cutaneous T-cell lymphoma Cutaan T-cel lymfoom CANDIDATE -en nl HP:0012192 IAO:0000115 A type of T-cell lymphoma that exhibits malignant infiltration of the skin A type of T-cell lymphoma that exhibits malignant infiltration of the skin NOT_TRANSLATED -en nl HP:0012193 rdfs:label Anaplastic large-cell lymphoma Anaplastisch grootcellig T-cel lymfoom CANDIDATE -en nl HP:0012193 IAO:0000115 A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei NOT_TRANSLATED -en nl HP:0012194 rdfs:label Episodic hemiplegia Episodische hemiplegie CANDIDATE -en nl HP:0012194 IAO:0000115 Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body NOT_TRANSLATED -en nl HP:0012195 rdfs:label Irregular respiration Irregulaire ademhaling CANDIDATE -en nl HP:0012195 IAO:0000115 Uneven rhythm of breathing Uneven rhythm of breathing NOT_TRANSLATED -en nl HP:0012196 rdfs:label Cheyne-Stokes respiration Cheyne-Stokes ademhaling CANDIDATE -en nl HP:0012196 IAO:0000115 An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes NOT_TRANSLATED -en nl HP:0012197 rdfs:label Insulinoma Insulinoom CANDIDATE -en nl HP:0012197 IAO:0000115 A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia NOT_TRANSLATED -en nl HP:0012198 rdfs:label Juvenile colonic polyposis Juveniele polyposis van colon CANDIDATE -en nl HP:0012198 IAO:0000115 The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands NOT_TRANSLATED -en nl HP:0012199 rdfs:label Cluster headache Clusterhoofdpijn CANDIDATE -en nl HP:0012199 IAO:0000115 A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs NOT_TRANSLATED -en nl HP:0012200 rdfs:label Abnormality of prothrombin Afwijking van protrombine CANDIDATE -en nl HP:0012200 IAO:0000115 An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade NOT_TRANSLATED -en nl HP:0012202 rdfs:label Increased serum bile acid concentration Toegenomen concentratie serum galzuur CANDIDATE -en nl HP:0012202 IAO:0000115 An increase in the concentration of bile acid in the blood An increase in the concentration of bile acid in the blood NOT_TRANSLATED -en nl HP:0012203 rdfs:label Onychomycosis Onychomycosis CANDIDATE -en nl HP:0012203 IAO:0000115 A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split NOT_TRANSLATED -en nl HP:0012204 rdfs:label Recurrent vulvovaginal candidiasis Recidiverende vulvovaginale candidiasis CANDIDATE -en nl HP:0012204 IAO:0000115 Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida NOT_TRANSLATED -en nl HP:0012205 rdfs:label Globozoospermia Globozoospermie CANDIDATE -en nl HP:0012205 IAO:0000115 Any structural anomaly of the acrosome resulting in a round sperm head Any structural anomaly of the acrosome resulting in a round sperm head NOT_TRANSLATED -en nl HP:0012206 rdfs:label Abnormal sperm motility Afwijkende sperma motiliteit CANDIDATE -en nl HP:0012206 IAO:0000115 An anomaly of the mobility of ejaculated sperm An anomaly of the mobility of ejaculated sperm NOT_TRANSLATED -en nl HP:0012207 rdfs:label Reduced sperm motility Verminderde sperma motiliteit CANDIDATE -en nl HP:0012207 IAO:0000115 An abnormal reduction in the mobility of ejaculated sperm An abnormal reduction in the mobility of ejaculated sperm NOT_TRANSLATED -en nl HP:0012208 rdfs:label Immotile sperm Niet motiel sperma CANDIDATE -en nl HP:0012208 IAO:0000115 A lack of mobility of ejaculated sperm A lack of mobility of ejaculated sperm NOT_TRANSLATED -en nl HP:0012209 rdfs:label Juvenile myelomonocytic leukemia Juveniele myelomonocytaire leukemie CANDIDATE -en nl HP:0012209 IAO:0000115 Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor NOT_TRANSLATED -en nl HP:0012210 rdfs:label Abnormal renal morphology Afwijkende renale morfologie CANDIDATE -en nl HP:0012210 IAO:0000115 Any structural anomaly of the kidney Any structural anomaly of the kidney NOT_TRANSLATED -en nl HP:0012211 rdfs:label Abnormal renal physiology Afwijkende renale fysiologie CANDIDATE -en nl HP:0012211 IAO:0000115 An abnormal functionality of the kidney An abnormal functionality of the kidney NOT_TRANSLATED -en nl HP:0012212 rdfs:label Abnormal glomerular filtration rate Afwijkende glomerulaire filtratiesnelheid CANDIDATE -en nl HP:0012212 IAO:0000115 An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time NOT_TRANSLATED -en nl HP:0012213 rdfs:label Decreased glomerular filtration rate Afgenomen glomerulaire filtratiesnelheid CANDIDATE -en nl HP:0012213 IAO:0000115 An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time NOT_TRANSLATED -en nl HP:0012214 rdfs:label Increased glomerular filtration rate Toegenomen glomerulaire filtratiesnelheid CANDIDATE -en nl HP:0012214 IAO:0000115 An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time NOT_TRANSLATED -en nl HP:0012215 rdfs:label Testicular microlithiasis Testiculaire microlithiasis CANDIDATE -en nl HP:0012215 IAO:0000115 The deposition of calcium phosphate microliths within the seminiferous tubules The deposition of calcium phosphate microliths within the seminiferous tubules NOT_TRANSLATED -en nl HP:0012216 rdfs:label Entrapment neuropathy of suprascapular nerve Entrapment neuropathie van de nervus suprascapularis CANDIDATE -en nl HP:0012216 IAO:0000115 An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region NOT_TRANSLATED -en nl HP:0012217 rdfs:label Increased urinary porphobilinogen Verhoogd urine porfobilinogeen CANDIDATE -en nl HP:0012217 IAO:0000115 Increased concentration of porphobilinogen in the urine Increased concentration of porphobilinogen in the urine NOT_TRANSLATED -en nl HP:0012218 rdfs:label Alveolar soft part sarcoma Alveolaire zachte deel sarcoom CANDIDATE -en nl HP:0012218 IAO:0000115 A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue NOT_TRANSLATED -en nl HP:0012219 rdfs:label Erythema nodosum Erythema nodosum CANDIDATE -en nl HP:0012219 IAO:0000115 An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral NOT_TRANSLATED -en nl HP:0012220 rdfs:label Non-caseating epithelioid cell granulomatosis Non-caseating epithelioid cell granulomatosis NOT_TRANSLATED -en nl HP:0012220 IAO:0000115 The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese) The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese) NOT_TRANSLATED -en nl HP:0012221 rdfs:label Pretibial blistering Pretibiale blaarvorming CANDIDATE -en nl HP:0012221 IAO:0000115 A type of blistering that affects the skin of the tibial region A type of blistering that affects the skin of the tibial region NOT_TRANSLATED -en nl HP:0012222 rdfs:label Arachnoid hemangiomatosis Arachnoïdale hemangiomatose CANDIDATE -en nl HP:0012222 IAO:0000115 The presence of multiple hemangiomas in the arachnoid The presence of multiple hemangiomas in the arachnoid NOT_TRANSLATED -en nl HP:0012223 rdfs:label Splenic rupture Miltruptuur CANDIDATE -en nl HP:0012223 IAO:0000115 A breach of the capsule of the spleen A breach of the capsule of the spleen NOT_TRANSLATED -en nl HP:0012224 rdfs:label Circulating immune complexes Circulerende immuuncomplexen CANDIDATE -en nl HP:0012224 IAO:0000115 Persistence of immune complexes in the blood circulation Persistence of immune complexes in the blood circulation NOT_TRANSLATED -en nl HP:0012225 rdfs:label Oligodontia of primary teeth Oligodontie van primaire tanden CANDIDATE -en nl HP:0012225 IAO:0000115 Reduced number of primary teeth Reduced number of primary teeth NOT_TRANSLATED -en nl HP:0012226 rdfs:label Ovarian teratoma Ovarieel teratoom CANDIDATE -en nl HP:0012226 IAO:0000115 The presence of a teratoma in the ovary The presence of a teratoma in the ovary NOT_TRANSLATED -en nl HP:0012227 rdfs:label Urethral stricture Urethral stricture NOT_TRANSLATED -en nl HP:0012227 IAO:0000115 Narrowing of the urethra associated with inflammation or scar tissue Narrowing of the urethra associated with inflammation or scar tissue NOT_TRANSLATED -en nl HP:0012228 rdfs:label Tension-type headache Spanningshoofdpijn CANDIDATE -en nl HP:0012228 IAO:0000115 A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs NOT_TRANSLATED -en nl HP:0012229 rdfs:label CSF pleocytosis Liquor pleiocytose CANDIDATE -en nl HP:0012229 IAO:0000115 An increased white blood cell count in the cerebrospinal fluid An increased white blood cell count in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0012230 rdfs:label Rhegmatogenous retinal detachment Rhegmatogene netvliesloslating CANDIDATE -en nl HP:0012230 IAO:0000115 A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0012231 rdfs:label Exudative retinal detachment Exsudatieve netvliesloslating CANDIDATE -en nl HP:0012231 IAO:0000115 A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0012232 rdfs:label Shortened QT interval Verkort QT interval CANDIDATE -en nl HP:0012232 IAO:0000115 Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) NOT_TRANSLATED -en nl HP:0012233 rdfs:label Intramuscular hematoma Intramusculair hematoom CANDIDATE -en nl HP:0012233 IAO:0000115 Blood clot formed within muscle tissue following leakage of blood into the tissue Blood clot formed within muscle tissue following leakage of blood into the tissue NOT_TRANSLATED -en nl HP:0045001 rdfs:label Abnormal ossification of the trapezium Afwijkende ossificatie van het trapezium CANDIDATE -en nl HP:0012234 rdfs:label Agranulocytosis Agranulocytose CANDIDATE -en nl HP:0012234 IAO:0000115 Marked decrease in the number of granulocytes Marked decrease in the number of granulocytes NOT_TRANSLATED -en nl HP:0045002 rdfs:label Absent ossification of the trapezium Afwezige ossificatie van het trapezium CANDIDATE -en nl HP:0012235 rdfs:label Drug-induced agranulocytosis Medicijn-geïnduceerde agranulocytose CANDIDATE -en nl HP:0012235 IAO:0000115 A type of agranulocytosis related to ingestion of a specific medication A type of agranulocytosis related to ingestion of a specific medication NOT_TRANSLATED -en nl HP:0045003 rdfs:label Abnormal ossification of the scaphoid Afwijkende ossificatie van het os scaphoideum CANDIDATE -en nl HP:0012236 rdfs:label Elevated sweat chloride Verhoogd zweet chloride CANDIDATE -en nl HP:0012236 IAO:0000115 An increased concentration of chloride in the sweat An increased concentration of chloride in the sweat NOT_TRANSLATED -en nl HP:0045004 rdfs:label Abnormal ossification of the trapezoid bone Afwijkende ossificatie van het os trapezium CANDIDATE -en nl HP:0012237 rdfs:label Urocanic aciduria Urocaanzuuracidurie CANDIDATE -en nl HP:0012237 IAO:0000115 An increased concentration of urocanic acid in the urine An increased concentration of urocanic acid in the urine NOT_TRANSLATED -en nl HP:0045005 rdfs:label Neural tube defect Neurale buis defect CANDIDATE -en nl HP:0045005 IAO:0000115 A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine NOT_TRANSLATED -en nl HP:0012238 rdfs:label Increased circulating chylomicron concentration Toegenomen circulerende chylomicronen niveaus CANDIDATE -en nl HP:0012238 IAO:0000115 Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins NOT_TRANSLATED -en nl HP:0045006 rdfs:label Aplasia of lymphatic vessels Aplasie van lymfevaten CANDIDATE -en nl HP:0045006 IAO:0000115 Aplasia (absence) of the lymphatic vessels Aplasia (absence) of the lymphatic vessels NOT_TRANSLATED -en nl HP:0012239 rdfs:label Atransferrinemia Atransferrinemie CANDIDATE -en nl HP:0012239 IAO:0000115 Absence of transferrin, a protein that transports iron, in the blood Absence of transferrin, a protein that transports iron, in the blood NOT_TRANSLATED -en nl HP:0045007 rdfs:label Abnormal substantia nigra morphology Afwijking van de substantia nigra CANDIDATE -en nl HP:0045007 IAO:0000115 A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry NOT_TRANSLATED -en nl HP:0012240 rdfs:label Increased intramyocellular lipid droplets Increased intramyocellular lipid droplets NOT_TRANSLATED -en nl HP:0012240 IAO:0000115 An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images NOT_TRANSLATED -en nl HP:0045008 rdfs:label Abnormal shape of the radius Afwijkende vorm van de radius CANDIDATE -en nl HP:0012241 rdfs:label Levator palpebrae superioris atrophy Musculus levator palpebrae superioris atrofie CANDIDATE -en nl HP:0012241 IAO:0000115 Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid NOT_TRANSLATED -en nl HP:0012242 rdfs:label Superior rectus atrophy Atrofie van de musculus rectus superior bulbi CANDIDATE -en nl HP:0012242 IAO:0000115 Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe NOT_TRANSLATED -en nl HP:0045010 rdfs:label Abnormality of peripheral nerves Afwijking van perifere zenuwen CANDIDATE -en nl HP:0012243 rdfs:label Abnormal reproductive system morphology Afwijking van reproductieve systeem morfologie CANDIDATE -en nl HP:0012243 IAO:0000115 A structural or developmental anomaly of any of the tissues involved in the genital system A structural or developmental anomaly of any of the tissues involved in the genital system NOT_TRANSLATED -en nl HP:0045011 rdfs:label Decreased urine bicarbonate concentration Verminderde urine bicarbonaat concentratie CANDIDATE -en nl HP:0045011 IAO:0000115 Abnormally decreased concentration of hydrogencarbonate in the urine Abnormally decreased concentration of hydrogencarbonate in the urine NOT_TRANSLATED -en nl HP:0012244 rdfs:label Abnormal sex determination Afwijkende geslachtsbepaling CANDIDATE -en nl HP:0012244 IAO:0000115 Anomaly of primary or secondary sexual development or characteristics Anomaly of primary or secondary sexual development or characteristics NOT_TRANSLATED -en nl HP:0045012 rdfs:label Decreased urinary catecholamine concentration Verminderde urine catecholamine concentratie CANDIDATE -en nl HP:0012245 rdfs:label Sex reversal Geslachtsomkering CANDIDATE -en nl HP:0012245 IAO:0000115 Development of the reproductive system is inconsistent with the chromosomal sex Development of the reproductive system is inconsistent with the chromosomal sex NOT_TRANSLATED -en nl HP:0012246 rdfs:label Oculomotor nerve palsy Nervus oculomotorius parese CANDIDATE -en nl HP:0012246 IAO:0000115 Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve) Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve) NOT_TRANSLATED -en nl HP:0045014 rdfs:label Hypolipidemia Hypolipidemie CANDIDATE -en nl HP:0012247 rdfs:label Specific anosmia Specifieke anosmie CANDIDATE -en nl HP:0012247 IAO:0000115 Anosmia for one particular odor Anosmia for one particular odor NOT_TRANSLATED -en nl HP:0012248 rdfs:label Prolonged PR interval Verlengd PR-interval CANDIDATE -en nl HP:0012248 IAO:0000115 Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex) Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex) NOT_TRANSLATED -en nl HP:0012249 rdfs:label Abnormal ST segment Afwijkend ST-segment CANDIDATE -en nl HP:0012249 IAO:0000115 An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment NOT_TRANSLATED -en nl HP:0045017 rdfs:label Congenital malformation of the left heart Congenitale malformatie van het linker hart CANDIDATE -en nl HP:0045017 IAO:0000115 Defect or defects of the morphogenesis of the left heart identifiable at birth Defect or defects of the morphogenesis of the left heart identifiable at birth NOT_TRANSLATED -en nl HP:0012250 rdfs:label ST segment depression ST-segment depressie CANDIDATE -en nl HP:0012250 IAO:0000115 An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line NOT_TRANSLATED -en nl HP:0045018 rdfs:label Partial duplication of eyebrows Partiële duplicatie van wenkbrauwen CANDIDATE -en nl HP:0012251 rdfs:label ST segment elevation ST-segment elevatie CANDIDATE -en nl HP:0012251 IAO:0000115 An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line NOT_TRANSLATED -en nl HP:0012252 rdfs:label Abnormal respiratory system morphology Afwijking van respiratoire systeem morfologie CANDIDATE -en nl HP:0012252 IAO:0000115 A structural anomaly of the respiratory system A structural anomaly of the respiratory system NOT_TRANSLATED -en nl HP:0012253 rdfs:label Abnormal respiratory epithelium morphology Afwijking van respiratoire epitheel morfologie CANDIDATE -en nl HP:0012253 IAO:0000115 Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi NOT_TRANSLATED -en nl HP:0012254 rdfs:label Ewing sarcoma Ewing-sarcoom CANDIDATE -en nl HP:0012254 IAO:0000115 A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones NOT_TRANSLATED -en nl HP:0012255 rdfs:label Dynein arm defect of respiratory motile cilia Dyneïne arm defect van respiratoire trilhaar CANDIDATE -en nl HP:0012255 IAO:0000115 An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED -en nl HP:0012256 rdfs:label Absent outer dynein arms Afwezige buitenste dyneïne-armen CANDIDATE -en nl HP:0012256 IAO:0000115 Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED -en nl HP:0012257 rdfs:label Absent inner dynein arms Afwezige binnenste dyneïne-armen CANDIDATE -en nl HP:0012257 IAO:0000115 Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED -en nl HP:0045025 rdfs:label Narrow palpebral fissure Smalle ooglidspleet CANDIDATE -en nl HP:0045025 IAO:0000115 Reduction in the vertical distance between the upper and lower eyelids Reduction in the vertical distance between the upper and lower eyelids NOT_TRANSLATED -en nl HP:0012258 rdfs:label Abnormal axonemal organization of respiratory motile cilia Abnormal axonemal organization of respiratory motile cilia NOT_TRANSLATED -en nl HP:0012258 IAO:0000115 Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms NOT_TRANSLATED -en nl HP:0045026 rdfs:label Abnormal mediastinum morphology Afwijking van het mediastinum CANDIDATE -en nl HP:0045026 IAO:0000115 Any structural anomaly of the central compartment of the thoracic cavity Any structural anomaly of the central compartment of the thoracic cavity NOT_TRANSLATED -en nl HP:0012259 rdfs:label Absent inner and outer dynein arms Afwezige binnenste en buitenste dyneïne-armen CANDIDATE -en nl HP:0012259 IAO:0000115 Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED -en nl HP:0045027 rdfs:label Abnormality of the thoracic cavity Afwijking van de thoraxholte CANDIDATE -en nl HP:0012260 rdfs:label Abnormal central microtubular pair morphology of respiratory motile cilia Abnormal central microtubular pair morphology of respiratory motile cilia NOT_TRANSLATED -en nl HP:0012260 IAO:0000115 A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration NOT_TRANSLATED -en nl HP:0045028 rdfs:label Microlissencephaly Type III lissencefalie CANDIDATE -en nl HP:0045028 IAO:0000115 Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements NOT_TRANSLATED -en nl HP:0012261 rdfs:label Abnormal respiratory motile cilium physiology Afwijking van respiratoire trilhaar fysiologie CANDIDATE -en nl HP:0012261 IAO:0000115 Any functional anomaly of the respiratory motile cilia Any functional anomaly of the respiratory motile cilia NOT_TRANSLATED -en nl HP:0045029 rdfs:label Eosinophilic fasciitis Eosinofiele fasciitis CANDIDATE -en nl HP:0045029 IAO:0000115 Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues NOT_TRANSLATED -en nl HP:0012262 rdfs:label Abnormal ciliary motility Afwijkende trilhaar beweeglijkheid CANDIDATE -en nl HP:0012262 IAO:0000115 Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions NOT_TRANSLATED -en nl HP:0012263 rdfs:label Immotile cilia Immotiele cilia CANDIDATE -en nl HP:0012264 rdfs:label Absent central microtubular pair morphology of respiratory motile cilia Absent central microtubular pair morphology of respiratory motile cilia NOT_TRANSLATED -en nl HP:0012264 IAO:0000115 Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration NOT_TRANSLATED -en nl HP:0012265 rdfs:label Ciliary dyskinesia Ciliaire dyskinesie CANDIDATE -en nl HP:0012265 IAO:0000115 A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia NOT_TRANSLATED -en nl HP:0012266 rdfs:label T-wave alternans T-wave alternans NOT_TRANSLATED -en nl HP:0012266 IAO:0000115 A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG NOT_TRANSLATED -en nl HP:0045034 rdfs:label Elevated urinary aminoisobutyric acid Verhoogd urine aminoisobutyric-zuur CANDIDATE -en nl HP:0045034 IAO:0000115 An increased amount of 3-aminoisobutyric acid in the urine An increased amount of 3-aminoisobutyric acid in the urine NOT_TRANSLATED -en nl HP:0012267 rdfs:label Absent respiratory ciliary axoneme radial spokes Absent respiratory ciliary axoneme radial spokes NOT_TRANSLATED -en nl HP:0012267 IAO:0000115 Absence of the radial spokes of the axoneme of the respiratory cilium Absence of the radial spokes of the axoneme of the respiratory cilium NOT_TRANSLATED -en nl HP:0045035 rdfs:label Decreased urinary copper concentration Verminderde urine koper concentratie CANDIDATE -en nl HP:0012268 rdfs:label Myxoid liposarcoma Myxoid liposarcoom CANDIDATE -en nl HP:0012268 IAO:0000115 A liposarcoma that contains myxomatous tissue A liposarcoma that contains myxomatous tissue NOT_TRANSLATED -en nl HP:0045036 rdfs:label Abnormal urinary copper concentration Afwijkende urine koper concentratie CANDIDATE -en nl HP:0012269 rdfs:label Abnormal muscle glycogen content Afwijkende spier glycogeen inhoud CANDIDATE -en nl HP:0012269 IAO:0000115 Any anomaly in the amount of glycogen in muscle tissue Any anomaly in the amount of glycogen in muscle tissue NOT_TRANSLATED -en nl HP:0045037 rdfs:label Abnormality of jaw muscles Afwijking van kaakspieren CANDIDATE -en nl HP:0012270 rdfs:label Decreased muscle glycogen content Afgenomen spier glycogeen inhoud CANDIDATE -en nl HP:0012270 IAO:0000115 A decreased amount of glycogen in muscle tissue A decreased amount of glycogen in muscle tissue NOT_TRANSLATED -en nl HP:0045038 rdfs:label Gastric lymphoma Gastrisch lymfoom CANDIDATE -en nl HP:0045038 IAO:0000115 Lymphoma that originates in the stomach itself Lymphoma that originates in the stomach itself NOT_TRANSLATED -en nl HP:0012271 rdfs:label Episodic upper airway obstruction Episodische bovenste luchtweg obstructie CANDIDATE -en nl HP:0012271 IAO:0000115 Intermittent episodes of increased resistance to the passage of air in the upper airway Intermittent episodes of increased resistance to the passage of air in the upper airway NOT_TRANSLATED -en nl HP:0045039 rdfs:label Osteolysis involving bones of the upper limbs Osteolyse waarbij de botten van de bovenste ledematen betrokken zijn CANDIDATE -en nl HP:0012272 rdfs:label J wave J-golf CANDIDATE -en nl HP:0012272 IAO:0000115 The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point NOT_TRANSLATED -en nl HP:0045040 rdfs:label Abnormal lactate dehydrogenase level Afwijkend lactaatdehydrogenase activiteit CANDIDATE -en nl HP:0045040 IAO:0000115 A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate NOT_TRANSLATED -en nl HP:0012273 rdfs:label Increased carotid artery intimal medial thickness Verhoogde arteria carotis intima media dikte CANDIDATE -en nl HP:0012273 IAO:0000115 An increase in the combined thickness of the intima and media of the carotid artery An increase in the combined thickness of the intima and media of the carotid artery NOT_TRANSLATED -en nl HP:0045041 rdfs:label Reduced lactate dehydrogenase B level Verminderde lactaatdehydrogenase B activiteit CANDIDATE -en nl HP:0045041 IAO:0000115 A decreased or reduced level of the enzyme lactate dehydrogenase in serum A decreased or reduced level of the enzyme lactate dehydrogenase in serum NOT_TRANSLATED -en nl HP:0012274 rdfs:label Autosomal dominant inheritance with paternal imprinting Autosomaal dominante overerving met paternale imprinting CANDIDATE -en nl HP:0012274 IAO:0000115 A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing NOT_TRANSLATED -en nl HP:0045042 rdfs:label Decreased serum complement C4 Verminderd serum complement C4 CANDIDATE -en nl HP:0045042 IAO:0000115 A reduced level of the complement component C4 in the circulation A reduced level of the complement component C4 in the circulation NOT_TRANSLATED -en nl HP:0012275 rdfs:label Autosomal dominant inheritance with maternal imprinting Autosomaal dominante overerving met maternale imprinting CANDIDATE -en nl HP:0012275 IAO:0000115 A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing NOT_TRANSLATED -en nl HP:0045043 rdfs:label Decreased serum complement C4a Verminderd serum complement C4a CANDIDATE -en nl HP:0045043 IAO:0000115 A reduced level of the complement component C4a in circulation A reduced level of the complement component C4a in circulation NOT_TRANSLATED -en nl HP:0012276 rdfs:label Digital flexor tenosynovitis Vinger flexor tenosynovitis CANDIDATE -en nl HP:0012276 IAO:0000115 Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit NOT_TRANSLATED -en nl HP:0045044 rdfs:label Decreased serum complement C4b Verminderd serum complement C4b CANDIDATE -en nl HP:0045044 IAO:0000115 A reduced level of the complement component C4b in circulation A reduced level of the complement component C4b in circulation NOT_TRANSLATED -en nl HP:0012277 rdfs:label Hypoglycinemia Hypoglycinemie CANDIDATE -en nl HP:0012277 IAO:0000115 An abnormally reduced concentration of glycine in the blood An abnormally reduced concentration of glycine in the blood NOT_TRANSLATED -en nl HP:0045045 rdfs:label Elevated circulating acylcarnitine concentration Verhoogde plasma acylcarnitine niveaus CANDIDATE -en nl HP:0045045 IAO:0000115 An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED -en nl HP:0012278 rdfs:label Abnormal circulating serine concentration Afwijking van serine metabolisme CANDIDATE -en nl HP:0012278 IAO:0000115 Any deviation from the normal concentration of serine in the blood circulation Any deviation from the normal concentration of serine in the blood circulation NOT_TRANSLATED -en nl HP:0045046 rdfs:label Reduced insulin like growth factor binding protein acid labile subunit concentration Reduced insulin like growth factor binding protein acid labile subunit concentration NOT_TRANSLATED -en nl HP:0045046 IAO:0000115 An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation NOT_TRANSLATED -en nl HP:0012279 rdfs:label Hyposerinemia Hyposerinemie CANDIDATE -en nl HP:0012279 IAO:0000115 Reduced concentration of serine in the blood Reduced concentration of serine in the blood NOT_TRANSLATED -en nl HP:0045047 rdfs:label HbS hemoglobin HbS hemoglobine CANDIDATE -en nl HP:0045047 IAO:0000115 Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography NOT_TRANSLATED -en nl HP:0012280 rdfs:label Hepatic amyloidosis Hepatische amyloidose CANDIDATE -en nl HP:0012280 IAO:0000115 A form of amyloidosis that affects the liver A form of amyloidosis that affects the liver NOT_TRANSLATED -en nl HP:0045048 rdfs:label Increased HbA2 hemoglobin Verhoogd HbA2 hemoglobine CANDIDATE -en nl HP:0045048 IAO:0000115 An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia NOT_TRANSLATED -en nl HP:0012281 rdfs:label Chylous ascites Chyleuze ascites CANDIDATE -en nl HP:0012281 IAO:0000115 Extravasation of chyle into the peritoneal cavity Extravasation of chyle into the peritoneal cavity NOT_TRANSLATED -en nl HP:0045049 rdfs:label Abnormal DLCO Afwijkende DLCO CANDIDATE -en nl HP:0045049 IAO:0000115 An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs NOT_TRANSLATED -en nl HP:0012282 rdfs:label Morbilliform rash Morbilliforme uitslag CANDIDATE -en nl HP:0012282 IAO:0000115 An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days NOT_TRANSLATED -en nl HP:0045050 rdfs:label Increased DLCO Toegenomen DLCO CANDIDATE -en nl HP:0045050 IAO:0000115 Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test NOT_TRANSLATED -en nl HP:0012283 rdfs:label Small distal femoral epiphysis Kleine distale epifyse van femur CANDIDATE -en nl HP:0012283 IAO:0000115 Reduced size of the Distal epiphysis of femur Reduced size of the Distal epiphysis of femur NOT_TRANSLATED -en nl HP:0045051 rdfs:label Decreased DLCO Afgenomen DLCO CANDIDATE -en nl HP:0045051 IAO:0000115 Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test NOT_TRANSLATED -en nl HP:0012284 rdfs:label Small proximal tibial epiphyses Kleine proximale tibia epifysen CANDIDATE -en nl HP:0012284 IAO:0000115 Reduced size of the proximal epiphysis of the tibia Reduced size of the proximal epiphysis of the tibia NOT_TRANSLATED -en nl HP:0045052 rdfs:label Abnormality of the brachial nerve plexus Afwijking van de plexus brachialis zenuwen CANDIDATE -en nl HP:0045052 IAO:0000115 Any abnormality of the brachial nerve plexus Any abnormality of the brachial nerve plexus NOT_TRANSLATED -en nl HP:0012285 rdfs:label Abnormal hypothalamus physiology Afwijkende hypothalamus fysiologie CANDIDATE -en nl HP:0012285 IAO:0000115 An abnormal functionality of the hypothalamus An abnormal functionality of the hypothalamus NOT_TRANSLATED -en nl HP:0045053 rdfs:label Abnormality of the lumbosacral nerve plexus Afwijking van de lumbosacrale zenuw plexus CANDIDATE -en nl HP:0045053 IAO:0000115 Any abnormality of the lumbosacral nerve plexus Any abnormality of the lumbosacral nerve plexus NOT_TRANSLATED -en nl HP:0012286 rdfs:label Abnormal hypothalamus morphology Afwijkende hypothalamus morfologie CANDIDATE -en nl HP:0012286 IAO:0000115 Any structural anomaly of the hypothalamus Any structural anomaly of the hypothalamus NOT_TRANSLATED -en nl HP:0045054 rdfs:label Brachial plexus neuropathy Plexus brachialis neuropathie CANDIDATE -en nl HP:0012287 rdfs:label Hypothalamic luteinizing hormone-releasing hormone deficiency Hypothalame luteïniserend hormoon-releasing hormoon deficiëntie CANDIDATE -en nl HP:0012287 IAO:0000115 Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus NOT_TRANSLATED -en nl HP:0045055 rdfs:label Tiger tail banding Tiger tail banding CANDIDATE -en nl HP:0045055 IAO:0000115 An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding NOT_TRANSLATED -en nl HP:0012288 rdfs:label Neoplasm of head and neck Neoplasma van hoofd en nek CANDIDATE -en nl HP:0012288 IAO:0000115 A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx NOT_TRANSLATED -en nl HP:0045056 rdfs:label Abnormal levels of alpha-fetoprotein Afwijkende niveaus van alfafoetoproteïne CANDIDATE -en nl HP:0012289 rdfs:label Facial neoplasm Faciaal neoplasma CANDIDATE -en nl HP:0012289 IAO:0000115 A tumor (abnormal growth of tissue) of the face A tumor (abnormal growth of tissue) of the face NOT_TRANSLATED -en nl HP:0045057 rdfs:label Decreased levels of alpha-fetoprotein Afgenomen niveaus van alfafoetoproteïne CANDIDATE -en nl HP:0045057 IAO:0000115 A decrease in the concentration of alpha-fetoprotein in the blood circulation A decrease in the concentration of alpha-fetoprotein in the blood circulation NOT_TRANSLATED -en nl HP:0045058 rdfs:label Abnormality of the testis size Afwijking van de grootte van testis CANDIDATE -en nl HP:0045058 IAO:0000115 An anomaly of the size of the testicle (the male gonad) An anomaly of the size of the testicle (the male gonad) NOT_TRANSLATED -en nl HP:0045059 rdfs:label Hyperkeratotic papule Hyperkeratotische papel CANDIDATE -en nl HP:0045059 IAO:0000115 A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically) A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically) NOT_TRANSLATED -en nl HP:0012292 rdfs:label Fusion of gums Fusie van tandvlees CANDIDATE -en nl HP:0012292 IAO:0000115 A congenital defect with an abnormal joining of the gums of the upper and lower jaw A congenital defect with an abnormal joining of the gums of the upper and lower jaw NOT_TRANSLATED -en nl HP:0045060 rdfs:label Aplasia/hypoplasia involving bones of the extremities Aplasia/Hypoplasie waarbij de beenderen van de extremiteiten betrokken zijn CANDIDATE -en nl HP:0012293 rdfs:label Abnormal genital pigmentation Afwijkende genitale pigmentatie CANDIDATE -en nl HP:0012293 IAO:0000115 An abnormal pigmentation pattern of the external genitalia An abnormal pigmentation pattern of the external genitalia NOT_TRANSLATED -en nl HP:0045061 rdfs:label Decreased carnitine level in liver Verminderd carnitine niveau in lever CANDIDATE -en nl HP:0012294 rdfs:label Abnormal occipital bone morphology Afwijking van het os occipitale CANDIDATE -en nl HP:0012294 IAO:0000115 Abnormality of the occipital bone of the skull Abnormality of the occipital bone of the skull NOT_TRANSLATED -en nl HP:0012295 rdfs:label Slender middle phalanx of finger Slank middelste falanx van vinger CANDIDATE -en nl HP:0012295 IAO:0000115 Reduced diameter of the middle phalanx of finger Reduced diameter of the middle phalanx of finger NOT_TRANSLATED -en nl HP:0045063 rdfs:label Increased PIVKA-II Verhoogd PIVKA-II CANDIDATE -en nl HP:0045063 IAO:0000115 Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells NOT_TRANSLATED -en nl HP:0012296 rdfs:label Slender distal phalanx of finger Slanke distale falanx van vinger CANDIDATE -en nl HP:0012296 IAO:0000115 Reduced diameter of the distal phalanx of finger Reduced diameter of the distal phalanx of finger NOT_TRANSLATED -en nl HP:0012297 rdfs:label Slender proximal phalanx of finger Slanke proximale falanx van vinger CANDIDATE -en nl HP:0012297 IAO:0000115 Reduced diameter of the proximal phalanx of finger Reduced diameter of the proximal phalanx of finger NOT_TRANSLATED -en nl HP:0012298 rdfs:label Long middle phalanx of finger Lange middelste falanx van vinger CANDIDATE -en nl HP:0012298 IAO:0000115 Increased length of the middle phalanx of finger Increased length of the middle phalanx of finger NOT_TRANSLATED -en nl HP:0012299 rdfs:label Long distal phalanx of finger Lange distale falanx van de vinger CANDIDATE -en nl HP:0012299 IAO:0000115 Increased length of the distal phalanx of finger Increased length of the distal phalanx of finger NOT_TRANSLATED -en nl HP:0012300 rdfs:label Ureteral agenesis Ureterale agenesie CANDIDATE -en nl HP:0012300 IAO:0000115 Failure of the ureter to undergo development Failure of the ureter to undergo development NOT_TRANSLATED -en nl HP:0012301 rdfs:label Type II transferrin isoform profile Type 2 transferrine isoform profiel CANDIDATE -en nl HP:0012301 IAO:0000115 Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation NOT_TRANSLATED -en nl HP:0012302 rdfs:label Herpes simplex encephalitis Herpes simplex encefalitis CANDIDATE -en nl HP:0012302 IAO:0000115 Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction NOT_TRANSLATED -en nl HP:0012303 rdfs:label Abnormal aortic arch morphology Afwijkende aortaboog morfologie CANDIDATE -en nl HP:0012303 IAO:0000115 An anomaly of the arch of aorta An anomaly of the arch of aorta NOT_TRANSLATED -en nl HP:0012304 rdfs:label Hypoplastic aortic arch Hypoplastische aortaboog CANDIDATE -en nl HP:0012304 IAO:0000115 Underdevelopment of the arch of aorta Underdevelopment of the arch of aorta NOT_TRANSLATED -en nl HP:0012305 rdfs:label Coarctation of the descending aortic arch Coarctatie van de descenderende aortaboog CANDIDATE -en nl HP:0012305 IAO:0000115 Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta NOT_TRANSLATED -en nl HP:0045073 rdfs:label Serositis Serositis CANDIDATE -en nl HP:0045073 IAO:0000115 Inflammation in any serous cavity Inflammation in any serous cavity NOT_TRANSLATED -en nl HP:0012306 rdfs:label Abnormal rib ossification Afwijkende rib ossificatie CANDIDATE -en nl HP:0012306 IAO:0000115 An anomaly of the process of rib bone formation An anomaly of the process of rib bone formation NOT_TRANSLATED -en nl HP:0045074 rdfs:label Thin eyebrow Dunne wenbrauw CANDIDATE -en nl HP:0045074 IAO:0000115 Decreased diameter of eyebrow hairs Decreased diameter of eyebrow hairs NOT_TRANSLATED -en nl HP:0012307 rdfs:label Spatulate ribs Spatelvormige ribben CANDIDATE -en nl HP:0012307 IAO:0000115 Ribs that are increased in width and taper to the posterior ends Ribs that are increased in width and taper to the posterior ends NOT_TRANSLATED -en nl HP:0045075 rdfs:label Sparse eyebrow Spaarzame wenkbrauw CANDIDATE -en nl HP:0045075 IAO:0000115 Decreased density/number of eyebrow hairs Decreased density/number of eyebrow hairs NOT_TRANSLATED -en nl HP:0012308 rdfs:label Decreased serum complement C9 Verminderd serum complement C9 CANDIDATE -en nl HP:0012308 IAO:0000115 A reduced level of the complement component C9 in circulation A reduced level of the complement component C9 in circulation NOT_TRANSLATED -en nl HP:0012309 rdfs:label Cutaneous amyloidosis Cutane amyloidose CANDIDATE -en nl HP:0012309 IAO:0000115 The presence of amyloid deposition in the superficial dermis The presence of amyloid deposition in the superficial dermis NOT_TRANSLATED -en nl HP:0012310 rdfs:label Abnormal monocyte count Afwijkend monocyten aantal CANDIDATE -en nl HP:0012310 IAO:0000115 An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells NOT_TRANSLATED -en nl HP:0012311 rdfs:label Monocytosis Monocytose CANDIDATE -en nl HP:0012311 IAO:0000115 An increased number of circulating monocytes An increased number of circulating monocytes NOT_TRANSLATED -en nl HP:0045079 rdfs:label Distal femoral metaphyseal irregularity Distale metafyse van femur onregelmatigheid CANDIDATE -en nl HP:0045079 IAO:0000115 Irregularity of the normally smooth surface of the distal metaphysis of the femur Irregularity of the normally smooth surface of the distal metaphysis of the femur NOT_TRANSLATED -en nl HP:0012312 rdfs:label Monocytopenia Monocytopenie CANDIDATE -en nl HP:0012312 IAO:0000115 An decreased number of circulating monocytes An decreased number of circulating monocytes NOT_TRANSLATED -en nl HP:0045080 rdfs:label Decreased proportion of CD3-positive T cells Afgenomen aantal van CD3-positieve T-cellen CANDIDATE -en nl HP:0045080 IAO:0000115 Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0012313 rdfs:label Heberden's node Nodulus van Heberden CANDIDATE -en nl HP:0012313 IAO:0000115 Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically NOT_TRANSLATED -en nl HP:0045081 rdfs:label Abnormality of body mass index Afwijking van de body mass index CANDIDATE -en nl HP:0045081 IAO:0000115 Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages NOT_TRANSLATED -en nl HP:0012314 rdfs:label Bouchard's node Nodulus van Bouchard CANDIDATE -en nl HP:0012314 IAO:0000115 Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically NOT_TRANSLATED -en nl HP:0045082 rdfs:label Decreased body mass index Afgenomen body mass index CANDIDATE -en nl HP:0045082 IAO:0000115 Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages NOT_TRANSLATED -en nl HP:0012315 rdfs:label Histiocytoma Histiocytoom CANDIDATE -en nl HP:0012315 IAO:0000115 A neoplasm containing histiocytes A neoplasm containing histiocytes NOT_TRANSLATED -en nl HP:0012316 rdfs:label Fibrous tissue neoplasm Fibreus weefsel neoplasma CANDIDATE -en nl HP:0012316 IAO:0000115 Any neoplasm composed of fibrous tissue Any neoplasm composed of fibrous tissue NOT_TRANSLATED -en nl HP:0045084 rdfs:label Limb myoclonus Ledemaat myoclonus CANDIDATE -en nl HP:0012317 rdfs:label Sacroiliac arthritis Sacro-iliacale artritis CANDIDATE -en nl HP:0012317 IAO:0000115 Inflammation of the sacroiliac joint, generally accompanied by lower back pain Inflammation of the sacroiliac joint, generally accompanied by lower back pain NOT_TRANSLATED -en nl HP:0045085 rdfs:label Atrophy of masseter muscle Atrofie van musculus masseter CANDIDATE -en nl HP:0012318 rdfs:label Occipital neuralgia Occipitale neuralgie CANDIDATE -en nl HP:0012318 IAO:0000115 A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side NOT_TRANSLATED -en nl HP:0045086 rdfs:label Knee joint hypermobility Kniegewricht hypermobiliteit CANDIDATE -en nl HP:0045086 IAO:0000115 The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees) The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees) NOT_TRANSLATED -en nl HP:0012319 rdfs:label Absent pigmentation of the abdomen Afwezige pigmentatie van de buik CANDIDATE -en nl HP:0012319 IAO:0000115 Lack of skin pigmentation (coloring) of the abdomen Lack of skin pigmentation (coloring) of the abdomen NOT_TRANSLATED -en nl HP:0045087 rdfs:label Hip joint hypermobility Heupgewricht hypermobiliteit CANDIDATE -en nl HP:0012320 rdfs:label Absent pigmentation of the limbs Afwezige pigmentatie van de ledematen CANDIDATE -en nl HP:0012320 IAO:0000115 Lack of skin pigmentation (coloring) of the arms and legs Lack of skin pigmentation (coloring) of the arms and legs NOT_TRANSLATED -en nl HP:0045088 rdfs:label Clinical relevance Clinical relevance NOT_TRANSLATED -en nl HP:0045088 IAO:0000115 Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis NOT_TRANSLATED -en nl HP:0012321 rdfs:label D-2-hydroxyglutaric aciduria D-2-hydroxyglutaarzuuracidurie CANDIDATE -en nl HP:0012321 IAO:0000115 An increased concentration of 2-hydroxyglutaric acid in the urine An increased concentration of 2-hydroxyglutaric acid in the urine NOT_TRANSLATED -en nl HP:0045089 rdfs:label Distinctive finding Distinctive finding NOT_TRANSLATED -en nl HP:0045089 IAO:0000115 In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential NOT_TRANSLATED -en nl HP:0012322 rdfs:label Perifolliculitis Perifolliculitis CANDIDATE -en nl HP:0012322 IAO:0000115 Inflammation surrounding hair follicles Inflammation surrounding hair follicles NOT_TRANSLATED -en nl HP:0045090 rdfs:label Minor finding Minor finding NOT_TRANSLATED -en nl HP:0045090 IAO:0000115 In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential NOT_TRANSLATED -en nl HP:0012323 rdfs:label Sleep myoclonus Slaapmyoclonus CANDIDATE -en nl HP:0012323 IAO:0000115 Myoclonus that occurs during the initial phases of sleep Myoclonus that occurs during the initial phases of sleep NOT_TRANSLATED -en nl HP:0012324 rdfs:label Myeloid leukemia Myeloïde leukemie CANDIDATE -en nl HP:0012324 IAO:0000115 A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow NOT_TRANSLATED -en nl HP:0012325 rdfs:label Chronic myelomonocytic leukemia Chronische myelomonocytaire leukemie CANDIDATE -en nl HP:0012325 IAO:0000115 A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement NOT_TRANSLATED -en nl HP:0012326 rdfs:label Abnormal celiac artery morphology Afwijkende truncus coeliacus morfologie CANDIDATE -en nl HP:0012326 IAO:0000115 An anomaly of the celiac artery An anomaly of the celiac artery NOT_TRANSLATED -en nl HP:0012327 rdfs:label Celiac artery compression Truncus coeliacus compressie CANDIDATE -en nl HP:0012327 IAO:0000115 Compression of the celiac artery Compression of the celiac artery NOT_TRANSLATED -en nl HP:0012328 rdfs:label Cementoma Cementoom CANDIDATE -en nl HP:0012328 IAO:0000115 An odontogenic tumor of the cementum of tooth An odontogenic tumor of the cementum of tooth NOT_TRANSLATED -en nl HP:0012329 rdfs:label Tufted angioma Getuft angioom CANDIDATE -en nl HP:0012329 IAO:0000115 A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation NOT_TRANSLATED -en nl HP:0012330 rdfs:label Pyelonephritis Pyelonefritis CANDIDATE -en nl HP:0012330 IAO:0000115 An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices NOT_TRANSLATED -en nl HP:0012331 rdfs:label Abnormal autonomic nervous system morphology Afwijking van autonome zenuwstelsel morfologie CANDIDATE -en nl HP:0012331 IAO:0000115 A structural abnormality of the autonomic nervous system A structural abnormality of the autonomic nervous system NOT_TRANSLATED -en nl HP:0012332 rdfs:label Abnormal autonomic nervous system physiology Afwijking van autonome zenuwstelsel fysiologie CANDIDATE -en nl HP:0012332 IAO:0000115 A functional abnormality of the autonomic nervous system A functional abnormality of the autonomic nervous system NOT_TRANSLATED -en nl HP:0012333 rdfs:label Abnormal sudomotor regulation Afwijkende sudomotore regulatie CANDIDATE -en nl HP:0012333 IAO:0000115 An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration NOT_TRANSLATED -en nl HP:0012334 rdfs:label Extrahepatic cholestasis Extrahepatische cholestase CANDIDATE -en nl HP:0012334 IAO:0000115 Impairment of bile flow due to obstruction in large bile ducts outside the liver Impairment of bile flow due to obstruction in large bile ducts outside the liver NOT_TRANSLATED -en nl HP:0012335 rdfs:label Abnormality of folate metabolism Afwijking van folaat metabolisme CANDIDATE -en nl HP:0012335 IAO:0000115 An abnormality of the metabolism of folic acid, which is also known as vitamin B9 An abnormality of the metabolism of folic acid, which is also known as vitamin B9 NOT_TRANSLATED -en nl HP:0012337 rdfs:label Abnormal homeostasis Afwijkende homeostase CANDIDATE -en nl HP:0012337 IAO:0000115 An anomaly in the processes involved in the maintenance of an internal equilibrium An anomaly in the processes involved in the maintenance of an internal equilibrium NOT_TRANSLATED -en nl HP:0012338 rdfs:label Abnormal energy expenditure Afwijkend energieverbruik CANDIDATE -en nl HP:0012338 IAO:0000115 Any anomaly in the utilization of energy (calories) Any anomaly in the utilization of energy (calories) NOT_TRANSLATED -en nl HP:0012339 rdfs:label Increased resting energy expenditure Verhoogd energieverbruik in rust CANDIDATE -en nl HP:0012339 IAO:0000115 An increase in the number of calories used per unit time An increase in the number of calories used per unit time NOT_TRANSLATED -en nl HP:0012340 rdfs:label Decreased resting energy expenditure Verlaagd energieverbruik in rust CANDIDATE -en nl HP:0012340 IAO:0000115 A reduction in the number of calories used per unit time A reduction in the number of calories used per unit time NOT_TRANSLATED -en nl HP:0012341 rdfs:label Microprolactinoma Microprolactinoom CANDIDATE -en nl HP:0012341 IAO:0000115 A pituitary prolactin cell adenoma of less than 10 mm diameter A pituitary prolactin cell adenoma of less than 10 mm diameter NOT_TRANSLATED -en nl HP:0012342 rdfs:label Macroprolactinoma Macroprolactinoom CANDIDATE -en nl HP:0012342 IAO:0000115 A pituitary prolactin cell adenoma of more than 10 mm diameter A pituitary prolactin cell adenoma of more than 10 mm diameter NOT_TRANSLATED -en nl HP:0012343 rdfs:label Decreased circulating ferritin concentration Verlaagd serum ferritine CANDIDATE -en nl HP:0012343 IAO:0000115 Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood NOT_TRANSLATED -en nl HP:0012344 rdfs:label Morphea Morfea CANDIDATE -en nl HP:0012344 IAO:0000115 Isolated patches of hardened skin (scleroderma) Isolated patches of hardened skin (scleroderma) NOT_TRANSLATED -en nl HP:0012345 rdfs:label Abnormal glycosylation Afwijkende glycosylatie CANDIDATE -en nl HP:0012345 IAO:0000115 An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule NOT_TRANSLATED -en nl HP:0012346 rdfs:label Abnormal protein glycosylation Afwijkende eiwit glycosylatie CANDIDATE -en nl HP:0012346 IAO:0000115 An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins NOT_TRANSLATED -en nl HP:0012347 rdfs:label Abnormal protein N-linked glycosylation Afwijkende eiwit N-glycosylatie CANDIDATE -en nl HP:0012347 IAO:0000115 An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein NOT_TRANSLATED -en nl HP:0012348 rdfs:label Decreased galactosylation of N-linked protein glycosylation Verminderde galactosylatie van N-glycosylatie CANDIDATE -en nl HP:0012348 IAO:0000115 A reduction in the amount of galactose residues of N-glycans A reduction in the amount of galactose residues of N-glycans NOT_TRANSLATED -en nl HP:0012349 rdfs:label Abnormal sialylation of N-linked protein glycosylation Afwijkende sialysatie van N-glycosylatie CANDIDATE -en nl HP:0012349 IAO:0000115 An anomaly of the addition of sialic acids to N-linked glycans An anomaly of the addition of sialic acids to N-linked glycans NOT_TRANSLATED -en nl HP:0012350 rdfs:label Decreased sialylation of N-linked protein glycosylation Verminderde sialysatie van N-glycosylatie CANDIDATE -en nl HP:0012350 IAO:0000115 Decreased addition of sialic acids to N-linked glycans Decreased addition of sialic acids to N-linked glycans NOT_TRANSLATED -en nl HP:0012351 rdfs:label Increased sialylation of N-linked protein glycosylation Verhoogde sialysatie van N-glycosylatie CANDIDATE -en nl HP:0012351 IAO:0000115 Increased addition of sialic acids to N-linked glycans Increased addition of sialic acids to N-linked glycans NOT_TRANSLATED -en nl HP:0012352 rdfs:label Abnormal fucosylation of protein N-linked glycosylation Afwijkende fucosylatie van N-glycosylatie CANDIDATE -en nl HP:0012352 IAO:0000115 An anomaly of the addition of fucose sugar units to N-linked glycans An anomaly of the addition of fucose sugar units to N-linked glycans NOT_TRANSLATED -en nl HP:0012353 rdfs:label Decreased fucosylation of N-linked protein glycosylation Verminderde fucosylatie van N-glycosylatie CANDIDATE -en nl HP:0012353 IAO:0000115 Decreased addition of fucose sugar units to N-linked glycans Decreased addition of fucose sugar units to N-linked glycans NOT_TRANSLATED -en nl HP:0012354 rdfs:label Increased fucosylation of N-linked protein glycosylation Verhoogde fucosylatie van N-glycosylatie CANDIDATE -en nl HP:0012354 IAO:0000115 Increased addition of fucose sugar units to N-linked glycans Increased addition of fucose sugar units to N-linked glycans NOT_TRANSLATED -en nl HP:0012355 rdfs:label Abnormal mannosylation of N-linked protein glycosylation Afwijkende mannosylatie van N-glycosylatie CANDIDATE -en nl HP:0012355 IAO:0000115 An anomaly of the addition of mannose to N-linked glycans An anomaly of the addition of mannose to N-linked glycans NOT_TRANSLATED -en nl HP:0012356 rdfs:label Decreased mannosylation of N-linked protein glycosylation Verminderde mannosylatie van N-glycosylatie CANDIDATE -en nl HP:0012356 IAO:0000115 Reduced addition of mannose to N-linked glycans Reduced addition of mannose to N-linked glycans NOT_TRANSLATED -en nl HP:0012357 rdfs:label Increased mannosylation of N-linked protein glycosylation Verhoogde mannosylatie van N-glycosylatie CANDIDATE -en nl HP:0012357 IAO:0000115 Increased addition of mannose to N-linked glycans Increased addition of mannose to N-linked glycans NOT_TRANSLATED -en nl HP:0012358 rdfs:label Abnormal protein O-linked glycosylation Afwijkende eiwit O-glycosylatie CANDIDATE -en nl HP:0012358 IAO:0000115 An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue NOT_TRANSLATED -en nl HP:0012359 rdfs:label Abnormal fucosylation of O-linked protein glycosylation Afwijkende fucosylatie van O-glycosylatie CANDIDATE -en nl HP:0012359 IAO:0000115 An anomaly of the addition of fucose sugar units to O-linked glycans An anomaly of the addition of fucose sugar units to O-linked glycans NOT_TRANSLATED -en nl HP:0012360 rdfs:label Decreased fucosylation of O-linked protein glycosylation Verminderde fucosylatie van O-glycosylatie CANDIDATE -en nl HP:0012360 IAO:0000115 A reduction of the addition of fucose sugar units to O-linked glycans A reduction of the addition of fucose sugar units to O-linked glycans NOT_TRANSLATED -en nl HP:0012361 rdfs:label Increased fucosylation of O-linked protein glycosylation Verhoogde fucosylatie van O-glycosylatie CANDIDATE -en nl HP:0012361 IAO:0000115 Increased addition of fucose sugar units to O-linked glycans Increased addition of fucose sugar units to O-linked glycans NOT_TRANSLATED -en nl HP:0012362 rdfs:label Abnormal sialylation of O-linked protein glycosylation Afwijkende sialysatie van O-glycosylatie CANDIDATE -en nl HP:0012362 IAO:0000115 An anomaly of the addition of sialic acids to O-linked glycans An anomaly of the addition of sialic acids to O-linked glycans NOT_TRANSLATED -en nl HP:0012363 rdfs:label Decreased sialylation of O-linked protein glycosylation Verminderde sialysatie van O-glycosylatie CANDIDATE -en nl HP:0012363 IAO:0000115 An reduced addition of sialic acids to O-linked glycans An reduced addition of sialic acids to O-linked glycans NOT_TRANSLATED -en nl HP:0012364 rdfs:label Decreased urinary potassium Verminderd urine kalium CANDIDATE -en nl HP:0012364 IAO:0000115 A decreased concentration of potassium(1+) in the urine A decreased concentration of potassium(1+) in the urine NOT_TRANSLATED -en nl HP:0012365 rdfs:label Hypophosphaturia Hypofosfaturie CANDIDATE -en nl HP:0012365 IAO:0000115 An abnormally decreased phosphate concentration in the urine An abnormally decreased phosphate concentration in the urine NOT_TRANSLATED -en nl HP:0012366 rdfs:label Basilar invagination Basilaire invaginatie CANDIDATE -en nl HP:0012366 IAO:0000115 Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama) Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama) NOT_TRANSLATED -en nl HP:0012367 rdfs:label Extra fontanelles Extra fontanellen CANDIDATE -en nl HP:0012367 IAO:0000115 Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull NOT_TRANSLATED -en nl HP:0012368 rdfs:label Flat face Vlak gelaat CANDIDATE -en nl HP:0012368 IAO:0000115 Absence of concavity or convexity of the face when viewed in profile Absence of concavity or convexity of the face when viewed in profile NOT_TRANSLATED -en nl HP:0012370 rdfs:label Prominence of the zygomatic bone Prominentie van het os zygomaticum CANDIDATE -en nl HP:0012370 IAO:0000115 Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones' Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones' NOT_TRANSLATED -en nl HP:0012371 rdfs:label Hyperplasia of midface Hyperplasia of midface NOT_TRANSLATED -en nl HP:0012371 IAO:0000115 Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face NOT_TRANSLATED -en nl HP:0012372 rdfs:label Abnormal eye morphology Afwijkende oog morfologie CANDIDATE -en nl HP:0012372 IAO:0000115 A structural anomaly of the globe of the eye, or bulbus oculi A structural anomaly of the globe of the eye, or bulbus oculi NOT_TRANSLATED -en nl HP:0012373 rdfs:label Abnormal eye physiology Afwijkinde oog fysiologie CANDIDATE -en nl HP:0012373 IAO:0000115 A functional anomaly of the eye A functional anomaly of the eye NOT_TRANSLATED -en nl HP:0012375 rdfs:label Chemosis Chemose CANDIDATE -en nl HP:0012375 IAO:0000115 Edema (swelling) of the bulbar conjunctiva Edema (swelling) of the bulbar conjunctiva NOT_TRANSLATED -en nl HP:0012376 rdfs:label Microphakia Microfakie CANDIDATE -en nl HP:0012376 IAO:0000115 Abnormal smallness of the lens Abnormal smallness of the lens NOT_TRANSLATED -en nl HP:0012377 rdfs:label Hemianopia Hemianopsie CANDIDATE -en nl HP:0012377 IAO:0000115 Partial or complete loss of vision in one half of the visual field of one or both eyes Partial or complete loss of vision in one half of the visual field of one or both eyes NOT_TRANSLATED -en nl HP:0012378 rdfs:label Fatigue Vermoeidheid CANDIDATE -en nl HP:0012378 IAO:0000115 A subjective feeling of tiredness characterized by a lack of energy and motivation A subjective feeling of tiredness characterized by a lack of energy and motivation NOT_TRANSLATED -en nl HP:0012379 rdfs:label Abnormal enzyme/coenzyme activity Abnormale enzym/coenzym activiteit CANDIDATE -en nl HP:0012379 IAO:0000115 An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme NOT_TRANSLATED -en nl HP:0012380 rdfs:label Reduced carnitine O-palmitoyltransferase level Reduced carnitine O-palmitoyltransferase level NOT_TRANSLATED -en nl HP:0012380 IAO:0000115 Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine NOT_TRANSLATED -en nl HP:0012381 rdfs:label Delayed self-feeding during toddler years Vertraagde zelf-voeding tijdens peuterjaren CANDIDATE -en nl HP:0012381 IAO:0000115 A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age) A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age) NOT_TRANSLATED -en nl HP:0012382 rdfs:label Left-to-right shunt Links naar rechts shunt CANDIDATE -en nl HP:0012382 IAO:0000115 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right NOT_TRANSLATED -en nl HP:0012383 rdfs:label Bidirectional shunt Bidirectionele shunt CANDIDATE -en nl HP:0012383 IAO:0000115 Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa NOT_TRANSLATED -en nl HP:0012384 rdfs:label Rhinitis Rhinitis CANDIDATE -en nl HP:0012384 IAO:0000115 Inflammation of the nasal mucosa with nasal congestion Inflammation of the nasal mucosa with nasal congestion NOT_TRANSLATED -en nl HP:0012385 rdfs:label Camptodactyly Camptodactylie CANDIDATE -en nl HP:0012385 IAO:0000115 The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension NOT_TRANSLATED -en nl HP:0012386 rdfs:label Absent hallux Afwezig hallux CANDIDATE -en nl HP:0012386 IAO:0000115 Aplasia of the hallux, that is, a development defect such that the big toe does not develop Aplasia of the hallux, that is, a development defect such that the big toe does not develop NOT_TRANSLATED -en nl HP:0012387 rdfs:label Bronchitis Bronchitis CANDIDATE -en nl HP:0012387 IAO:0000115 Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi NOT_TRANSLATED -en nl HP:0012388 rdfs:label Acute bronchitis Acute bronchitis CANDIDATE -en nl HP:0012388 IAO:0000115 Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness NOT_TRANSLATED -en nl HP:0012389 rdfs:label Appendicular hypotonia Appendiculaire hypotonie CANDIDATE -en nl HP:0012389 IAO:0000115 Muscular hypotonia of one or more limbs Muscular hypotonia of one or more limbs NOT_TRANSLATED -en nl HP:0012390 rdfs:label Anal fissure Anale fissuur CANDIDATE -en nl HP:0012390 IAO:0000115 A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus NOT_TRANSLATED -en nl HP:0012391 rdfs:label Hyporeflexia of upper limbs Hyporeflexie van bovenste ledematen CANDIDATE -en nl HP:0012391 IAO:0000115 Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping NOT_TRANSLATED -en nl HP:0012392 rdfs:label Jaw hyporeflexia Kaak hyporeflexie CANDIDATE -en nl HP:0012392 IAO:0000115 Reduced intensity of muscle tendon reflexes in jaw Reduced intensity of muscle tendon reflexes in jaw NOT_TRANSLATED -en nl HP:0012393 rdfs:label Allergy Allergie CANDIDATE -en nl HP:0012393 IAO:0000115 An allergy is an immune response or reaction to substances that are usually not harmful An allergy is an immune response or reaction to substances that are usually not harmful NOT_TRANSLATED -en nl HP:0012394 rdfs:label Iodine contrast allergy Allergie voor jodiumhoudende contrastmiddelen CANDIDATE -en nl HP:0012394 IAO:0000115 Allergy to iodine contrast media used in radiological studies Allergy to iodine contrast media used in radiological studies NOT_TRANSLATED -en nl HP:0012395 rdfs:label Seasonal allergy Seizoensgebonden allergie CANDIDATE -en nl HP:0012395 IAO:0000115 An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction NOT_TRANSLATED -en nl HP:0012396 rdfs:label Biliary dyskinesia Biliaire dyskinesie CANDIDATE -en nl HP:0012396 IAO:0000115 A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction NOT_TRANSLATED -en nl HP:0012397 rdfs:label Aortic atherosclerotic lesion Aorta atherosclerose CANDIDATE -en nl HP:0012397 IAO:0000115 The presence of atheromas or atherosclerotic plaques in the aorta The presence of atheromas or atherosclerotic plaques in the aorta NOT_TRANSLATED -en nl HP:0012398 rdfs:label Peripheral edema Perifeer oedeem CANDIDATE -en nl HP:0012398 IAO:0000115 An abnormal accumulation of interstitial fluid in the soft tissues of the limbs An abnormal accumulation of interstitial fluid in the soft tissues of the limbs NOT_TRANSLATED -en nl HP:0012399 rdfs:label Pressure ulcer Drukulcus CANDIDATE -en nl HP:0012399 IAO:0000115 A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips NOT_TRANSLATED -en nl HP:0012400 rdfs:label Abnormal aldolase level Afwijking van aldolase niveau CANDIDATE -en nl HP:0012400 IAO:0000115 An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate NOT_TRANSLATED -en nl HP:0012401 rdfs:label Abnormal urine alpha-ketoglutarate concentration Abnormal urine alpha-ketoglutarate concentration NOT_TRANSLATED -en nl HP:0012401 IAO:0000115 A deviation from normal of the concentration of 2-oxoglutaric acid in the urine A deviation from normal of the concentration of 2-oxoglutaric acid in the urine NOT_TRANSLATED -en nl HP:0012402 rdfs:label Increased urine alpha-ketoglutarate concentration Increased urine alpha-ketoglutarate concentration NOT_TRANSLATED -en nl HP:0012402 IAO:0000115 A greater than normal concentration of 2-oxoglutaric acid in the urine A greater than normal concentration of 2-oxoglutaric acid in the urine NOT_TRANSLATED -en nl HP:0012403 rdfs:label Decreased urine alpha-ketoglutarate concentration Decreased urine alpha-ketoglutarate concentration NOT_TRANSLATED -en nl HP:0012403 IAO:0000115 A lower than normal concentration of 2-oxoglutaric acid in the urine A lower than normal concentration of 2-oxoglutaric acid in the urine NOT_TRANSLATED -en nl HP:0012404 rdfs:label Abnormal urine citrate concentration Abnormal urine citrate concentration NOT_TRANSLATED -en nl HP:0012404 IAO:0000115 A deviation from normal of the concentration of citrate(3-) in the urine A deviation from normal of the concentration of citrate(3-) in the urine NOT_TRANSLATED -en nl HP:0012405 rdfs:label Hypocitraturia Hypocitraturie CANDIDATE -en nl HP:0012405 IAO:0000115 A lower than normal concentration of citrate(3-) in the urine A lower than normal concentration of citrate(3-) in the urine NOT_TRANSLATED -en nl HP:0012406 rdfs:label Hypercitraturia Hypercitraturie CANDIDATE -en nl HP:0012406 IAO:0000115 A greater than normal concentration of citrate(3-) in the urine A greater than normal concentration of citrate(3-) in the urine NOT_TRANSLATED -en nl HP:0012407 rdfs:label Scissor gait Scissor gait NOT_TRANSLATED -en nl HP:0012407 IAO:0000115 A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use NOT_TRANSLATED -en nl HP:0012408 rdfs:label Medullary nephrocalcinosis Medullaire nefrocalcinose CANDIDATE -en nl HP:0012408 IAO:0000115 The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney) The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney) NOT_TRANSLATED -en nl HP:0012409 rdfs:label Cortical nephrocalcinosis Corticale nefrocalcinose CANDIDATE -en nl HP:0012409 IAO:0000115 The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla) The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla) NOT_TRANSLATED -en nl HP:0012410 rdfs:label Pure red cell aplasia Pure red cell aplasia CANDIDATE -en nl HP:0012410 IAO:0000115 A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction NOT_TRANSLATED -en nl HP:0012411 rdfs:label Premature pubarche Premature pubarche CANDIDATE -en nl HP:0012411 IAO:0000115 The onset of growth of pubic hair at an earlier age than normal The onset of growth of pubic hair at an earlier age than normal NOT_TRANSLATED -en nl HP:0012412 rdfs:label Premature adrenarche Premature adrenarche CANDIDATE -en nl HP:0012412 IAO:0000115 Onset of adrenarche at an earlier age than usual Onset of adrenarche at an earlier age than usual NOT_TRANSLATED -en nl HP:0012413 rdfs:label Notched primary central incisor Notched primary central incisor NOT_TRANSLATED -en nl HP:0012413 IAO:0000115 The presence of a V-shaped indentation (notch) in the primary central incisor The presence of a V-shaped indentation (notch) in the primary central incisor NOT_TRANSLATED -en nl HP:0012414 rdfs:label Duodenal atrophy Duodenale atrofie CANDIDATE -en nl HP:0012414 IAO:0000115 Wasting or decrease in size of all or part of the duodenum Wasting or decrease in size of all or part of the duodenum NOT_TRANSLATED -en nl HP:0012415 rdfs:label Abnormal blood gas level Afwijkend bloedgas CANDIDATE -en nl HP:0012415 IAO:0000115 An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood NOT_TRANSLATED -en nl HP:0012416 rdfs:label Hypercapnia Hypercapnie CANDIDATE -en nl HP:0012416 IAO:0000115 Abnormally elevated blood carbon dioxide (CO2) level Abnormally elevated blood carbon dioxide (CO2) level NOT_TRANSLATED -en nl HP:0012417 rdfs:label Hypocapnia Hypocapnie CANDIDATE -en nl HP:0012417 IAO:0000115 Abnormally reduced blood carbon dioxide (CO2) level Abnormally reduced blood carbon dioxide (CO2) level NOT_TRANSLATED -en nl HP:0012418 rdfs:label Hypoxemia Hypoxemie CANDIDATE -en nl HP:0012418 IAO:0000115 An abnormally low level of blood oxygen An abnormally low level of blood oxygen NOT_TRANSLATED -en nl HP:0012419 rdfs:label Hyperoxemia Hyperoxemie CANDIDATE -en nl HP:0012419 IAO:0000115 An abnormally high level of blood oxygen An abnormally high level of blood oxygen NOT_TRANSLATED -en nl HP:0012420 rdfs:label Meconium stained amniotic fluid Meconium stained amniotic fluid NOT_TRANSLATED -en nl HP:0012420 IAO:0000115 Amniotic fluid containing the earliest stools of a mammalian infant Amniotic fluid containing the earliest stools of a mammalian infant NOT_TRANSLATED -en nl HP:0012421 rdfs:label Congenital absence of foreskin Congenitale afwezigheid van voorhuid CANDIDATE -en nl HP:0012421 IAO:0000115 Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis NOT_TRANSLATED -en nl HP:0012422 rdfs:label Villous hypertrophy of choroid plexus Villeuze hypertrofie van de plexus choroideus CANDIDATE -en nl HP:0012422 IAO:0000115 Overgrowth of the choroid plexus Overgrowth of the choroid plexus NOT_TRANSLATED -en nl HP:0012423 rdfs:label Colonic inertia Colonische traagheid CANDIDATE -en nl HP:0012423 IAO:0000115 The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days NOT_TRANSLATED -en nl HP:0012424 rdfs:label Chorioretinitis Chorioretinitis CANDIDATE -en nl HP:0012424 IAO:0000115 An inflammation of the choroid and retina An inflammation of the choroid and retina NOT_TRANSLATED -en nl HP:0012425 rdfs:label Stercoral ulcer Stercoral ulcer NOT_TRANSLATED -en nl HP:0012425 IAO:0000115 An ulcer of the colon due to pressure and irritation from retained fecal masses An ulcer of the colon due to pressure and irritation from retained fecal masses NOT_TRANSLATED -en nl HP:0012426 rdfs:label Optic disc drusen Optic disc drusen NOT_TRANSLATED -en nl HP:0012426 IAO:0000115 Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve NOT_TRANSLATED -en nl HP:0012427 rdfs:label Increased femoral anteversion Increased femoral anteversion NOT_TRANSLATED -en nl HP:0012427 IAO:0000115 An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward NOT_TRANSLATED -en nl HP:0012428 rdfs:label Prominent calcaneus Prominente calcaneus CANDIDATE -en nl HP:0012428 IAO:0000115 Protruding heel bone, or calcaneus Protruding heel bone, or calcaneus NOT_TRANSLATED -en nl HP:0012429 rdfs:label Aplasia/Hypoplasia of the cerebral white matter Aplasia/Hypoplasie van cerebrale witte stof CANDIDATE -en nl HP:0012429 IAO:0000115 Absence or underdevelopment of the cerebral white matter Absence or underdevelopment of the cerebral white matter NOT_TRANSLATED -en nl HP:0012430 rdfs:label Cerebral white matter hypoplasia Hypoplasie van de cerebrale witte stof CANDIDATE -en nl HP:0012430 IAO:0000115 Underdevelopment of the cerebral white matter Underdevelopment of the cerebral white matter NOT_TRANSLATED -en nl HP:0012431 rdfs:label Episodic fatigue Episodische vermoeidheid CANDIDATE -en nl HP:0012431 IAO:0000115 Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation NOT_TRANSLATED -en nl HP:0012432 rdfs:label Chronic fatigue Chronische vermoeidheid CANDIDATE -en nl HP:0012432 IAO:0000115 Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer NOT_TRANSLATED -en nl HP:0012433 rdfs:label Abnormal social behavior Afwijkend sociaal gedrag CANDIDATE -en nl HP:0012433 IAO:0000115 An abnormality of actions or reactions of a person taking place during interactions with others An abnormality of actions or reactions of a person taking place during interactions with others NOT_TRANSLATED -en nl HP:0012434 rdfs:label Delayed social development Vertraagde sociale ontwikkeling CANDIDATE -en nl HP:0012434 IAO:0000115 A failure to meet one or more age-related milestones of social behavior A failure to meet one or more age-related milestones of social behavior NOT_TRANSLATED -en nl HP:0012435 rdfs:label Ventral shortening of foreskin Ventrale verkorting van voorhuid CANDIDATE -en nl HP:0012435 IAO:0000115 Reduction in length of the ventral (lower) skin of prepuce of penis Reduction in length of the ventral (lower) skin of prepuce of penis NOT_TRANSLATED -en nl HP:0012436 rdfs:label Nonocclusive coronary artery atherosclerosis Niet-occlusieve coronaire atherosclerose CANDIDATE -en nl HP:0012436 IAO:0000115 Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries NOT_TRANSLATED -en nl HP:0012437 rdfs:label Abnormal gallbladder morphology Afwijkende galblaas morfologie CANDIDATE -en nl HP:0012437 IAO:0000115 A structural anomaly of the gallbladder A structural anomaly of the gallbladder NOT_TRANSLATED -en nl HP:0012438 rdfs:label Abnormal gallbladder physiology Afwijkende galblaas fysiologie CANDIDATE -en nl HP:0012438 IAO:0000115 A functional anomaly of the gallbladder A functional anomaly of the gallbladder NOT_TRANSLATED -en nl HP:0012439 rdfs:label Abnormal biliary tract physiology Afwijkende galwegen fysiologie CANDIDATE -en nl HP:0012439 IAO:0000115 A functional abnormality of the biliary tree A functional abnormality of the biliary tree NOT_TRANSLATED -en nl HP:0012440 rdfs:label Abnormal biliary tract morphology Afwijkende galwegen morfologie CANDIDATE -en nl HP:0012440 IAO:0000115 A structural abnormality of the biliary tree A structural abnormality of the biliary tree NOT_TRANSLATED -en nl HP:0012441 rdfs:label Sphincter of Oddi dyskinesia Sfincter van Oddi dyskinesie CANDIDATE -en nl HP:0012441 IAO:0000115 Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum NOT_TRANSLATED -en nl HP:0012442 rdfs:label Gallbladder dyskinesia Galblaas dyskinesie CANDIDATE -en nl HP:0012442 IAO:0000115 Reduced motility of the gallbladder with reduced emptying fraction Reduced motility of the gallbladder with reduced emptying fraction NOT_TRANSLATED -en nl HP:0012443 rdfs:label Abnormality of brain morphology Afwijkende hersenen morfologie CANDIDATE -en nl HP:0012443 IAO:0000115 A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain NOT_TRANSLATED -en nl HP:0012444 rdfs:label Brain atrophy Atrofie van de hersenen CANDIDATE -en nl HP:0012444 IAO:0000115 Partial or complete wasting (loss) of brain tissue that was once present Partial or complete wasting (loss) of brain tissue that was once present NOT_TRANSLATED -en nl HP:0012446 rdfs:label Decreased CSF 5-methyltetrahydrofolate concentration Laag liquor 5-methyltetrahydrofolaat CANDIDATE -en nl HP:0012446 IAO:0000115 A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite NOT_TRANSLATED -en nl HP:0012447 rdfs:label Abnormal myelination Abnormale myelinisering CANDIDATE -en nl HP:0012447 IAO:0000115 Any anomaly in the process by which myelin sheaths are formed and maintained around neurons Any anomaly in the process by which myelin sheaths are formed and maintained around neurons NOT_TRANSLATED -en nl HP:0012448 rdfs:label Delayed myelination Vertraagde myelinisatie CANDIDATE -en nl HP:0012448 IAO:0000115 Delayed myelination Delayed myelination NOT_TRANSLATED -en nl HP:0012449 rdfs:label Sacroiliac joint synovitis Sacro-iliacale gewricht synovitis CANDIDATE -en nl HP:0012449 IAO:0000115 Inflammation of the synovial membrane of the sacroiliac joint Inflammation of the synovial membrane of the sacroiliac joint NOT_TRANSLATED -en nl HP:0012450 rdfs:label Chronic constipation Chronische constipatie CANDIDATE -en nl HP:0012450 IAO:0000115 Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation NOT_TRANSLATED -en nl HP:0012451 rdfs:label Acute constipation Acute constipatie CANDIDATE -en nl HP:0012451 IAO:0000115 Constipation of sudden onset and lasting for less than three months Constipation of sudden onset and lasting for less than three months NOT_TRANSLATED -en nl HP:0012452 rdfs:label Restless legs Rusteloze benen CANDIDATE -en nl HP:0012452 IAO:0000115 A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) NOT_TRANSLATED -en nl HP:0012453 rdfs:label Bilateral wrist flexion contracture Bilaterale pols flexiecontractuur CANDIDATE -en nl HP:0012453 IAO:0000115 A chronic loss of wrist joint motion on the right and left sides A chronic loss of wrist joint motion on the right and left sides NOT_TRANSLATED -en nl HP:0012454 rdfs:label Unilateral wrist flexion contracture Unilaterale pols flexiecontractuur CANDIDATE -en nl HP:0012454 IAO:0000115 A chronic loss of wrist joint motion on one side only A chronic loss of wrist joint motion on one side only NOT_TRANSLATED -en nl HP:0012456 rdfs:label Medial arterial calcification Mediale arteriële calcificatie CANDIDATE -en nl HP:0012456 IAO:0000115 Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries NOT_TRANSLATED -en nl HP:0012457 rdfs:label Medial calcification of medium-sized arteries Mediale calcificatie van middelgrote arteriën CANDIDATE -en nl HP:0012457 IAO:0000115 Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries NOT_TRANSLATED -en nl HP:0012458 rdfs:label Medial calcification of small arteries Mediale verkalking van de kleine arteriën CANDIDATE -en nl HP:0012458 IAO:0000115 Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries NOT_TRANSLATED -en nl HP:0012459 rdfs:label Hypnic headache Hypnagoge hoofdpijn CANDIDATE -en nl HP:0012459 IAO:0000115 A headache disorder that occurs exclusively at night, waking the affected individual from sleep A headache disorder that occurs exclusively at night, waking the affected individual from sleep NOT_TRANSLATED -en nl HP:0012460 rdfs:label Dysmorphic inferior cerebellar vermis Dysmorfe inferieure vermis CANDIDATE -en nl HP:0012460 IAO:0000115 A structural anomaly of the inferior portion of the vermis of cerebellum A structural anomaly of the inferior portion of the vermis of cerebellum NOT_TRANSLATED -en nl HP:0012461 rdfs:label Bacteriuria Bacteriurie CANDIDATE -en nl HP:0012461 IAO:0000115 The presence of bacteria in the urine The presence of bacteria in the urine NOT_TRANSLATED -en nl HP:0012462 rdfs:label Chin myoclonus Kin myoclonus CANDIDATE -en nl HP:0012462 IAO:0000115 Involuntary and irregular twitches of the chin Involuntary and irregular twitches of the chin NOT_TRANSLATED -en nl HP:0012463 rdfs:label Elevated transferrin saturation Verhoogde transferrine saturatie CANDIDATE -en nl HP:0012463 IAO:0000115 An above normal level of saturation of serum transferrin with iron An above normal level of saturation of serum transferrin with iron NOT_TRANSLATED -en nl HP:0012464 rdfs:label Decreased transferrin saturation Verminderde transferrine saturatie CANDIDATE -en nl HP:0012464 IAO:0000115 A below normal level of saturation of serum transferrin with iron A below normal level of saturation of serum transferrin with iron NOT_TRANSLATED -en nl HP:0012465 rdfs:label Elevated hepatic iron concentration Verhoogde hepatische ijzer-concentratie CANDIDATE -en nl HP:0012465 IAO:0000115 An increased level of iron in liver tissues An increased level of iron in liver tissues NOT_TRANSLATED -en nl HP:0012466 rdfs:label Chronic respiratory acidosis Chronische respiratoire acidose CANDIDATE -en nl HP:0012466 IAO:0000115 Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L) Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L) NOT_TRANSLATED -en nl HP:0012467 rdfs:label Acute respiratory acidosis Acute respiratoire acidose CANDIDATE -en nl HP:0012467 IAO:0000115 Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35) Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35) NOT_TRANSLATED -en nl HP:0012468 rdfs:label Chronic acidosis Chronische acidose CANDIDATE -en nl HP:0012468 IAO:0000115 Longstanding abnormal acid accumulation or depletion of base Longstanding abnormal acid accumulation or depletion of base NOT_TRANSLATED -en nl HP:0012469 rdfs:label Infantile spasms Infantiele spasmen CANDIDATE -en nl HP:0012469 IAO:0000115 "Infantile spasms represent a subset of ""epileptic spasms"". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)" "Infantile spasms represent a subset of ""epileptic spasms"". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)" NOT_TRANSLATED -en nl HP:0012470 rdfs:label Setting-sun eye phenomenon Ondergaande zonfenomeen CANDIDATE -en nl HP:0012470 IAO:0000115 An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid NOT_TRANSLATED -en nl HP:0012471 rdfs:label Thick vermilion border Thick vermilion border NOT_TRANSLATED -en nl HP:0012471 IAO:0000115 Increased width of the skin of vermilion border region of upper lip Increased width of the skin of vermilion border region of upper lip NOT_TRANSLATED -en nl HP:0012472 rdfs:label Eclabion Eclabion CANDIDATE -en nl HP:0012472 IAO:0000115 A turning outward of the lip or lips, that is, eversion of the lips A turning outward of the lip or lips, that is, eversion of the lips NOT_TRANSLATED -en nl HP:0012473 rdfs:label Tongue atrophy Tong atrofie CANDIDATE -en nl HP:0012473 IAO:0000115 Wasting of the tongue Wasting of the tongue NOT_TRANSLATED -en nl HP:0012474 rdfs:label Carotid artery occlusion Arteria carotis occlusie CANDIDATE -en nl HP:0012474 IAO:0000115 Complete obstruction of a carotid artery Complete obstruction of a carotid artery NOT_TRANSLATED -en nl HP:0012475 rdfs:label Decreased circulating level of specific antibody Specifieke antistof deficiëntie CANDIDATE -en nl HP:0012475 IAO:0000115 The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism NOT_TRANSLATED -en nl HP:0012476 rdfs:label Decreased specific pneumococcal antibody level Specifieke pneumokokken antistoffen deficiëntie CANDIDATE -en nl HP:0012476 IAO:0000115 The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci NOT_TRANSLATED -en nl HP:0012477 rdfs:label Vocal tremor Vocale tremor CANDIDATE -en nl HP:0012477 IAO:0000115 A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability NOT_TRANSLATED -en nl HP:0012478 rdfs:label Temporomandibular joint ankylosis Temporo-mandibulaire ankylose CANDIDATE -en nl HP:0012478 IAO:0000115 Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening NOT_TRANSLATED -en nl HP:0012479 rdfs:label Temporomandibular joint crepitus Temporo-mandibulaire gewricht crepitus CANDIDATE -en nl HP:0012479 IAO:0000115 Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound NOT_TRANSLATED -en nl HP:0012480 rdfs:label Abnormal cerebral vein morphology Afwijking van cerebrale aderen CANDIDATE -en nl HP:0012480 IAO:0000115 An anomaly of cerebral veins An anomaly of cerebral veins NOT_TRANSLATED -en nl HP:0012481 rdfs:label Cerebral venous angioma Cerebraal veneus angioom CANDIDATE -en nl HP:0012481 IAO:0000115 A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system NOT_TRANSLATED -en nl HP:0012482 rdfs:label Frontal venous angioma Frontaal veneus angioom CANDIDATE -en nl HP:0012482 IAO:0000115 A venous angioma of the frontal lobe of the brain A venous angioma of the frontal lobe of the brain NOT_TRANSLATED -en nl HP:0012483 rdfs:label Abnormal alpha granules Afwijkende alfa-granules CANDIDATE -en nl HP:0012483 IAO:0000115 Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury NOT_TRANSLATED -en nl HP:0012484 rdfs:label Abnormal dense granules Abnormal dense granules NOT_TRANSLATED -en nl HP:0012484 IAO:0000115 Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin NOT_TRANSLATED -en nl HP:0012485 rdfs:label Abnormal surface-connected open canalicular system Abnormal surface-connected open canalicular system NOT_TRANSLATED -en nl HP:0012485 IAO:0000115 An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction NOT_TRANSLATED -en nl HP:0012486 rdfs:label Myelitis Myelitis CANDIDATE -en nl HP:0012486 IAO:0000115 Inflammation of the spinal cord Inflammation of the spinal cord NOT_TRANSLATED -en nl HP:0012487 rdfs:label Cerebellopontine angle arachnoid cyst Cerebellopontine angle arachnoid cyst NOT_TRANSLATED -en nl HP:0012487 IAO:0000115 An arachnoid cyst located at the margin of the cerebellum and pons An arachnoid cyst located at the margin of the cerebellum and pons NOT_TRANSLATED -en nl HP:0012488 rdfs:label Intraventricular arachnoid cyst Intraventriculaire arachnoïdale cyste CANDIDATE -en nl HP:0012488 IAO:0000115 An arachnoid cyst located within the ventricular system An arachnoid cyst located within the ventricular system NOT_TRANSLATED -en nl HP:0012489 rdfs:label Suprasellar arachnoid cyst Suprasellaire arachnoïdale cyste CANDIDATE -en nl HP:0012489 IAO:0000115 An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards NOT_TRANSLATED -en nl HP:0012490 rdfs:label Panniculitis Panniculitis CANDIDATE -en nl HP:0012490 IAO:0000115 Inflammation of adipose tissue Inflammation of adipose tissue NOT_TRANSLATED -en nl HP:0012491 rdfs:label Abnormal dense tubular system Afwijkend dense tubular system CANDIDATE -en nl HP:0012491 IAO:0000115 An anomaly of the intracellular membrane complexes known as the dense tubular system An anomaly of the intracellular membrane complexes known as the dense tubular system NOT_TRANSLATED -en nl HP:0012492 rdfs:label Cerebral artery stenosis Cerebrale arterie stenose CANDIDATE -en nl HP:0012492 IAO:0000115 Narrowing or constriction of the inner surface (lumen) of a cerebral artery Narrowing or constriction of the inner surface (lumen) of a cerebral artery NOT_TRANSLATED -en nl HP:0012493 rdfs:label Middle cerebral artery stenosis Arteria cerebri media stenose CANDIDATE -en nl HP:0012493 IAO:0000115 Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery NOT_TRANSLATED -en nl HP:0012494 rdfs:label Anterior cerebral artery stenosis Arteria cerebri anterior stenose CANDIDATE -en nl HP:0012494 IAO:0000115 Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery NOT_TRANSLATED -en nl HP:0012495 rdfs:label Posterior cerebral artery stenosis Arteria cerebri posterior stenose CANDIDATE -en nl HP:0012495 IAO:0000115 Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery NOT_TRANSLATED -en nl HP:0012496 rdfs:label Reduced maximal inspiratory pressure Verminderde maximale inspiratoire druk CANDIDATE -en nl HP:0012496 IAO:0000115 A decrease in the maximum amount of negative pressure a person can generate during an inhalation A decrease in the maximum amount of negative pressure a person can generate during an inhalation NOT_TRANSLATED -en nl HP:0012497 rdfs:label Reduced maximal expiratory pressure Verminderde maximale expiratoire druk CANDIDATE -en nl HP:0012497 IAO:0000115 A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration NOT_TRANSLATED -en nl HP:0012498 rdfs:label Nuchal cord Nuchal koord CANDIDATE -en nl HP:0012498 IAO:0000115 A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times NOT_TRANSLATED -en nl HP:0012499 rdfs:label Descending aortic dissection Aorta descendens dissectie CANDIDATE -en nl HP:0012499 IAO:0000115 A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space NOT_TRANSLATED -en nl HP:0012500 rdfs:label Verrucous papule Verruceuze papel CANDIDATE -en nl HP:0012500 IAO:0000115 A wartlike (with multiple small elevated projections) papule A wartlike (with multiple small elevated projections) papule NOT_TRANSLATED -en nl HP:0012501 rdfs:label Abnormal brainstem white matter morphology Afwijking van de hersenstam witte stof CANDIDATE -en nl HP:0012501 IAO:0000115 An anomaly of the white matter of brainstem An anomaly of the white matter of brainstem NOT_TRANSLATED -en nl HP:0012502 rdfs:label Abnormality of the internal capsule Afwijking van de capsula interna CANDIDATE -en nl HP:0012502 IAO:0000115 An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus NOT_TRANSLATED -en nl HP:0012503 rdfs:label Abnormality of the pituitary gland Afwijking van de hypofyse CANDIDATE -en nl HP:0012503 IAO:0000115 An anomaly of the pituitary gland An anomaly of the pituitary gland NOT_TRANSLATED -en nl HP:0012504 rdfs:label Abnormal size of pituitary gland Afwijkende grootte van hypofyse CANDIDATE -en nl HP:0012504 IAO:0000115 A deviation from the normal size of the pituitary gland A deviation from the normal size of the pituitary gland NOT_TRANSLATED -en nl HP:0012505 rdfs:label Enlarged pituitary gland Vergrote hypofyse CANDIDATE -en nl HP:0012505 IAO:0000115 An abnormally increased size of the pituitary gland An abnormally increased size of the pituitary gland NOT_TRANSLATED -en nl HP:0012506 rdfs:label Small pituitary gland Kleine hypofyse CANDIDATE -en nl HP:0012506 IAO:0000115 An abnormally decreased size of the pituitary gland An abnormally decreased size of the pituitary gland NOT_TRANSLATED -en nl HP:0012507 rdfs:label Weakness of orbicularis oculi muscle Zwakte van de musculus orbicularis oculi CANDIDATE -en nl HP:0012507 IAO:0000115 Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid NOT_TRANSLATED -en nl HP:0012508 rdfs:label Metamorphopsia Metamorfopsie CANDIDATE -en nl HP:0012508 IAO:0000115 A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank NOT_TRANSLATED -en nl HP:0012509 rdfs:label Reduced thyroxin-binding globulin Verminderd thyroxine bindend globuline CANDIDATE -en nl HP:0012509 IAO:0000115 An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream NOT_TRANSLATED -en nl HP:0012510 rdfs:label Extra-axial cerebrospinal fluid accumulation Extra axiale liquor ophoping CANDIDATE -en nl HP:0012510 IAO:0000115 An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space NOT_TRANSLATED -en nl HP:0012511 rdfs:label Temporal optic disc pallor Bleekheid van temporale optische schijf CANDIDATE -en nl HP:0012511 IAO:0000115 A pale yellow discoloration of the temporal (lateral) portion of the optic disc A pale yellow discoloration of the temporal (lateral) portion of the optic disc NOT_TRANSLATED -en nl HP:0012512 rdfs:label Diffuse optic disc pallor Diffuse bleekheid van optische schijf CANDIDATE -en nl HP:0012512 IAO:0000115 A pale yellow discoloration of the entire optic disc A pale yellow discoloration of the entire optic disc NOT_TRANSLATED -en nl HP:0012513 rdfs:label Upper limb pain Pijn in bovenste extremiteit CANDIDATE -en nl HP:0012513 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm NOT_TRANSLATED -en nl HP:0012514 rdfs:label Lower limb pain Pijn in onderste extremiteit CANDIDATE -en nl HP:0012514 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg NOT_TRANSLATED -en nl HP:0012515 rdfs:label Hip flexor weakness Heupflexor zwakte CANDIDATE -en nl HP:0012515 IAO:0000115 Reduced ability to flex the femur, that is, to pull the knee upward Reduced ability to flex the femur, that is, to pull the knee upward NOT_TRANSLATED -en nl HP:0012516 rdfs:label Tetralogy of Fallot with pulmonary atresia Tetralogie van Fallot met pulmonale atresie CANDIDATE -en nl HP:0012516 IAO:0000115 An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries NOT_TRANSLATED -en nl HP:0012517 rdfs:label Reduced catalase level Verminderde katalase activiteit CANDIDATE -en nl HP:0012517 IAO:0000115 An abnormally decreased amount of catalase level An abnormally decreased amount of catalase level NOT_TRANSLATED -en nl HP:0012518 rdfs:label Abnormal circle of Willis morphology Afwijking van de cirkel van Willis CANDIDATE -en nl HP:0012518 IAO:0000115 An anomaly of the circle of Willis, also known as the cerebral arterial circle An anomaly of the circle of Willis, also known as the cerebral arterial circle NOT_TRANSLATED -en nl HP:0012519 rdfs:label Hypoplastic posterior communicating artery Hypoplastische arteria communicans posterior CANDIDATE -en nl HP:0012519 IAO:0000115 Underdeveloped posterior communicating artery Underdeveloped posterior communicating artery NOT_TRANSLATED -en nl HP:0012520 rdfs:label Dilation of Virchow-Robin spaces Perivasculaire ruimten CANDIDATE -en nl HP:0012520 IAO:0000115 Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery NOT_TRANSLATED -en nl HP:0012521 rdfs:label Optic nerve aplasia Nervus opticus aplasie CANDIDATE -en nl HP:0012521 IAO:0000115 Congenital absence of the optic nerve Congenital absence of the optic nerve NOT_TRANSLATED -en nl HP:0012522 rdfs:label Spider hemangioma Spider naevus CANDIDATE -en nl HP:0012522 IAO:0000115 A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released NOT_TRANSLATED -en nl HP:0012523 rdfs:label Oral aversion Orale aversie CANDIDATE -en nl HP:0012523 IAO:0000115 Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing) Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing) NOT_TRANSLATED -en nl HP:0012524 rdfs:label Abnormal platelet shape Afwijkende vorm van bloedplaatjes CANDIDATE -en nl HP:0012524 IAO:0000115 A deviation from the normal discoid platelet shape A deviation from the normal discoid platelet shape NOT_TRANSLATED -en nl HP:0012525 rdfs:label Abnormal alpha granule distribution Afwijkende alfa-granules distributie CANDIDATE -en nl HP:0012525 IAO:0000115 An anomalous location and arrangement of platelet alpha granules An anomalous location and arrangement of platelet alpha granules NOT_TRANSLATED -en nl HP:0012526 rdfs:label Absence of alpha granules Afwezigheid van alfa-granules CANDIDATE -en nl HP:0012526 IAO:0000115 A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears NOT_TRANSLATED -en nl HP:0012527 rdfs:label Abnormal alpha granule content Afwijkende inhoud van alfa-granules CANDIDATE -en nl HP:0012527 IAO:0000115 A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor NOT_TRANSLATED -en nl HP:0012528 rdfs:label Abnormal number of alpha granules Afwijkend aantal alfa-granules CANDIDATE -en nl HP:0012528 IAO:0000115 A deviation from the normal count of alpha granules per thrombocyte A deviation from the normal count of alpha granules per thrombocyte NOT_TRANSLATED -en nl HP:0012529 rdfs:label Abnormal dense granule content Abnormal dense granule content NOT_TRANSLATED -en nl HP:0012529 IAO:0000115 A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated NOT_TRANSLATED -en nl HP:0012530 rdfs:label Abnormal number of dense granules Abnormal number of dense granules NOT_TRANSLATED -en nl HP:0012530 IAO:0000115 A deviation from the normal count of dense granules per thrombocyte A deviation from the normal count of dense granules per thrombocyte NOT_TRANSLATED -en nl HP:0012531 rdfs:label Pain Pijn CANDIDATE -en nl HP:0012531 IAO:0000115 An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage NOT_TRANSLATED -en nl HP:0012532 rdfs:label Chronic pain Chronische pijn CANDIDATE -en nl HP:0012532 IAO:0000115 Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months NOT_TRANSLATED -en nl HP:0012533 rdfs:label Allodynia Allodynie CANDIDATE -en nl HP:0012533 IAO:0000115 Pain due to a stimulus that does not normally provoke pain Pain due to a stimulus that does not normally provoke pain NOT_TRANSLATED -en nl HP:0012534 rdfs:label Dysesthesia Dysesthesie CANDIDATE -en nl HP:0012534 IAO:0000115 Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds NOT_TRANSLATED -en nl HP:0012535 rdfs:label Abnormal synaptic transmission Afwijkende synaptische transmissie CANDIDATE -en nl HP:0012535 IAO:0000115 An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process NOT_TRANSLATED -en nl HP:0012536 rdfs:label Maternal anticardiolipin antibody positive Maternale anticardiolipine antilichaam positiviteit CANDIDATE -en nl HP:0012536 IAO:0000115 The presence of circulating autoantibodies to anticardiolipin in the mother The presence of circulating autoantibodies to anticardiolipin in the mother NOT_TRANSLATED -en nl HP:0012537 rdfs:label Food intolerance Voedselintolerantie CANDIDATE -en nl HP:0012537 IAO:0000115 A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction NOT_TRANSLATED -en nl HP:0012538 rdfs:label Gluten intolerance Glutenintolerantie CANDIDATE -en nl HP:0012538 IAO:0000115 A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease NOT_TRANSLATED -en nl HP:0012539 rdfs:label Non-Hodgkin lymphoma Non-Hodgkin lymfoom CANDIDATE -en nl HP:0012539 IAO:0000115 A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells NOT_TRANSLATED -en nl HP:0012540 rdfs:label Axillary epidermoid cyst Axillaire epidermoïde cyste CANDIDATE -en nl HP:0012540 IAO:0000115 An epidermoid cyst in the armpit An epidermoid cyst in the armpit NOT_TRANSLATED -en nl HP:0012541 rdfs:label Cephalohematoma Cefaal hematoom CANDIDATE -en nl HP:0012541 IAO:0000115 Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum NOT_TRANSLATED -en nl HP:0012542 rdfs:label Onychauxis Onychauxis CANDIDATE -en nl HP:0012542 IAO:0000115 Thickened nails without deformity Thickened nails without deformity NOT_TRANSLATED -en nl HP:0012543 rdfs:label Hemosiderinuria Hemosiderinurie CANDIDATE -en nl HP:0012543 IAO:0000115 The presence of hemosiderin in the urine The presence of hemosiderin in the urine NOT_TRANSLATED -en nl HP:0012544 rdfs:label Elevated aldolase level Verhoogd aldolase niveau CANDIDATE -en nl HP:0012544 IAO:0000115 An increased concentration of fructose 1,6-bisphosphate aldolase in the serum An increased concentration of fructose 1,6-bisphosphate aldolase in the serum NOT_TRANSLATED -en nl HP:0012545 rdfs:label Reduced aldolase level Verlaagd aldolase niveau CANDIDATE -en nl HP:0012545 IAO:0000115 An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum NOT_TRANSLATED -en nl HP:0012546 rdfs:label Skewed maternal X inactivation Geskewde maternale X inactivatie CANDIDATE -en nl HP:0012546 IAO:0000115 A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells NOT_TRANSLATED -en nl HP:0012547 rdfs:label Abnormal involuntary eye movements Afwijkende onvrijwillige oogbewegingen CANDIDATE -en nl HP:0012547 IAO:0000115 Anomalous movements of the eyes that occur without the subject wanting them to happen Anomalous movements of the eyes that occur without the subject wanting them to happen NOT_TRANSLATED -en nl HP:0012548 rdfs:label Fatty replacement of skeletal muscle Vetvervanging van skeletspier CANDIDATE -en nl HP:0012548 IAO:0000115 Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers NOT_TRANSLATED -en nl HP:0012549 rdfs:label Conjunctival lipoma Conjunctivaal lipoom CANDIDATE -en nl HP:0012549 IAO:0000115 A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva NOT_TRANSLATED -en nl HP:0012550 rdfs:label Colonic varices Colonische varices CANDIDATE -en nl HP:0012550 IAO:0000115 The presence of varices (enlarged and convoluted blood vessels) in the colon The presence of varices (enlarged and convoluted blood vessels) in the colon NOT_TRANSLATED -en nl HP:0012551 rdfs:label Absent neutrophil specific granules Afwezig van neutrofiel specifieke granules CANDIDATE -en nl HP:0012551 IAO:0000115 Lack of specific granules in neutrophils Lack of specific granules in neutrophils NOT_TRANSLATED -en nl HP:0012552 rdfs:label Increased neutrophil nuclear projections Increased neutrophil nuclear projections NOT_TRANSLATED -en nl HP:0012552 IAO:0000115 Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs NOT_TRANSLATED -en nl HP:0012553 rdfs:label Hypoplastic thumbnail Hypoplastische duimnagel CANDIDATE -en nl HP:0012553 IAO:0000115 A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail NOT_TRANSLATED -en nl HP:0012554 rdfs:label Absent thumbnail Afwezige duimnagel CANDIDATE -en nl HP:0012554 IAO:0000115 Absence of thumb nail Absence of thumb nail NOT_TRANSLATED -en nl HP:0012555 rdfs:label Absent nail of hallux Afwezige nagel van hallux CANDIDATE -en nl HP:0012555 IAO:0000115 Absent nail of big toe Absent nail of big toe NOT_TRANSLATED -en nl HP:0012556 rdfs:label Hyperbeta-alaninemia Hyper-bèta-alaninemie CANDIDATE -en nl HP:0012556 IAO:0000115 Increased concentration of beta-alanine in the blood Increased concentration of beta-alanine in the blood NOT_TRANSLATED -en nl HP:0012557 rdfs:label EEG with centrotemporal focal spike waves EEG met centrotemporale focale piekgolven CANDIDATE -en nl HP:0012557 IAO:0000115 EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED -en nl HP:0012558 rdfs:label Abnormal T3/T4 ratio Afwijkende T3/T4 verhouding CANDIDATE -en nl HP:0012558 IAO:0000115 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal NOT_TRANSLATED -en nl HP:0012559 rdfs:label Increased T3/T4 ratio Verhoogde T3/T4 verhouding CANDIDATE -en nl HP:0012559 IAO:0000115 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal NOT_TRANSLATED -en nl HP:0012560 rdfs:label Decreased T3/T4 ratio Verlaagde T3/T4 verhouding CANDIDATE -en nl HP:0012560 IAO:0000115 A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal NOT_TRANSLATED -en nl HP:0012561 rdfs:label Unicuspid aortic valve Unicuspide aortaklep CANDIDATE -en nl HP:0012561 IAO:0000115 The presence of an aortic valve with one instead of the normal three cusps (flaps) The presence of an aortic valve with one instead of the normal three cusps (flaps) NOT_TRANSLATED -en nl HP:0012562 rdfs:label Premature epimetaphyseal fusion in hand Premature epimetafysaire fusie in hand CANDIDATE -en nl HP:0012562 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED -en nl HP:0012563 rdfs:label Premature epimetaphyseal fusion in foot Premature epimetafysaire fusie in voet CANDIDATE -en nl HP:0012563 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED -en nl HP:0012564 rdfs:label Premature epimetaphyseal fusion in tibia Premature epimetafysaire fusie in tibia CANDIDATE -en nl HP:0012564 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED -en nl HP:0012565 rdfs:label Premature epimetaphyseal fusion in fibula Premature epimetafysaire fusie in fibula CANDIDATE -en nl HP:0012565 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED -en nl HP:0012566 rdfs:label Premature epimetaphyseal fusion in radius Premature epimetafysaire fusie in radius CANDIDATE -en nl HP:0012566 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED -en nl HP:0012567 rdfs:label Premature epimetaphyseal fusion in ulna Premature epimetaphyseal fusion in ulna CANDIDATE -en nl HP:0012567 IAO:0000115 Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED -en nl HP:0012568 rdfs:label Lower eyelid edema Onderste ooglid oedeem CANDIDATE -en nl HP:0012568 IAO:0000115 Edema in the region of the Lower eyelid Edema in the region of the Lower eyelid NOT_TRANSLATED -en nl HP:0012569 rdfs:label Delayed menarche Vertraagde menarche CANDIDATE -en nl HP:0012569 IAO:0000115 First period after the age of 15 years First period after the age of 15 years NOT_TRANSLATED -en nl HP:0012570 rdfs:label Synovial sarcoma Synoviaal sarcoom CANDIDATE -en nl HP:0012570 IAO:0000115 A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities NOT_TRANSLATED -en nl HP:0012571 rdfs:label Ureter fissus Ureter fissus NOT_TRANSLATED -en nl HP:0012571 IAO:0000115 A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder NOT_TRANSLATED -en nl HP:0012572 rdfs:label Ureter duplex Ureter duplex NOT_TRANSLATED -en nl HP:0012572 IAO:0000115 A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder NOT_TRANSLATED -en nl HP:0012573 rdfs:label Global proximal tubulopathy Globale proximale tubulopathie CANDIDATE -en nl HP:0012573 IAO:0000115 A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis NOT_TRANSLATED -en nl HP:0012574 rdfs:label Mesangial hypercellularity Mesangiale hypercellulariteit CANDIDATE -en nl HP:0012574 IAO:0000115 Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain NOT_TRANSLATED -en nl HP:0012575 rdfs:label Abnormal nephron morphology Afwijking van het nefron CANDIDATE -en nl HP:0012575 IAO:0000115 A structural anomaly of the nephron A structural anomaly of the nephron NOT_TRANSLATED -en nl HP:0012576 rdfs:label Glomerular C3 deposition Glomerulaire C3 depositie CANDIDATE -en nl HP:0012576 IAO:0000115 The presence of complement 3 deposits in the glomerulus The presence of complement 3 deposits in the glomerulus NOT_TRANSLATED -en nl HP:0012577 rdfs:label Thin glomerular basement membrane Dunne glomerulaire basaalmembraan CANDIDATE -en nl HP:0012577 IAO:0000115 Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs NOT_TRANSLATED -en nl HP:0012578 rdfs:label Membranous nephropathy Membraanachtige nefropathie CANDIDATE -en nl HP:0012578 IAO:0000115 A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space NOT_TRANSLATED -en nl HP:0012579 rdfs:label Minimal change glomerulonephritis Minimal change glomerulonefritis CANDIDATE -en nl HP:0012579 IAO:0000115 The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria NOT_TRANSLATED -en nl HP:0012580 rdfs:label Calcium phosphate nephrolithiasis Calciumfosfaat nefrolithiase CANDIDATE -en nl HP:0012580 IAO:0000115 The presence of calcium- and phosphate-containing calculi (stones) in the kidneys The presence of calcium- and phosphate-containing calculi (stones) in the kidneys NOT_TRANSLATED -en nl HP:0012581 rdfs:label Simple renal cyst Solitaire renale cyste CANDIDATE -en nl HP:0012581 IAO:0000115 An isolated cyst of the kidney An isolated cyst of the kidney NOT_TRANSLATED -en nl HP:0012582 rdfs:label Bilateral renal dysplasia Bilaterale renale dysplasie CANDIDATE -en nl HP:0012582 IAO:0000115 A bilateral form of developmental dysplasia of the kidney A bilateral form of developmental dysplasia of the kidney NOT_TRANSLATED -en nl HP:0012583 rdfs:label Unilateral renal hypoplasia Unilaterale renale hypoplasie CANDIDATE -en nl HP:0012583 IAO:0000115 One sided hypoplasia of the kidney One sided hypoplasia of the kidney NOT_TRANSLATED -en nl HP:0012584 rdfs:label Bilateral renal hypoplasia Bilaterale renale hypoplasie CANDIDATE -en nl HP:0012584 IAO:0000115 Two sided hypoplasia of the kidney Two sided hypoplasia of the kidney NOT_TRANSLATED -en nl HP:0012585 rdfs:label Renal atrophy Renale atrofie CANDIDATE -en nl HP:0012585 IAO:0000115 Atrophy of the kidney Atrophy of the kidney NOT_TRANSLATED -en nl HP:0012586 rdfs:label Bilateral renal atrophy Bilaterale renale atrofie CANDIDATE -en nl HP:0012586 IAO:0000115 A two-sided form of atrophy of the kidney A two-sided form of atrophy of the kidney NOT_TRANSLATED -en nl HP:0012587 rdfs:label Macroscopic hematuria Macroscopische hematurie CANDIDATE -en nl HP:0012587 IAO:0000115 Hematuria that is visible upon inspection of the urine Hematuria that is visible upon inspection of the urine NOT_TRANSLATED -en nl HP:0012588 rdfs:label Steroid-resistant nephrotic syndrome Steroïde-resistent nefrotisch syndroom CANDIDATE -en nl HP:0012588 IAO:0000115 A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication NOT_TRANSLATED -en nl HP:0012589 rdfs:label Multidrug-resistant nephrotic syndrome Multiresistent nefrotisch syndroom CANDIDATE -en nl HP:0012589 IAO:0000115 A form of nephrotic syndrome that does not respond to any immunosuppresive treatment A form of nephrotic syndrome that does not respond to any immunosuppresive treatment NOT_TRANSLATED -en nl HP:0012590 rdfs:label Abnormal urine output Afwijkende urineproductie CANDIDATE -en nl HP:0012590 IAO:0000115 An abnormal amount of urine production An abnormal amount of urine production NOT_TRANSLATED -en nl HP:0012591 rdfs:label Abnormal urinary electrolyte concentration Afwijkende urine elektrolyt concentratie CANDIDATE -en nl HP:0012591 IAO:0000115 An abnormality in the concentration of electrolytes in the urine An abnormality in the concentration of electrolytes in the urine NOT_TRANSLATED -en nl HP:0012592 rdfs:label Albuminuria Albuminurie CANDIDATE -en nl HP:0012592 IAO:0000115 Increased concentration of albumin in the urine Increased concentration of albumin in the urine NOT_TRANSLATED -en nl HP:0012593 rdfs:label Nephrotic range proteinuria Nephrotic range proteinuria NOT_TRANSLATED -en nl HP:0012593 IAO:0000115 Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children NOT_TRANSLATED -en nl HP:0012594 rdfs:label Moderate albuminuria Microalbuminurie CANDIDATE -en nl HP:0012594 IAO:0000115 The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol) The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol) NOT_TRANSLATED -en nl HP:0012595 rdfs:label Mild proteinuria Milde proteïnurie CANDIDATE -en nl HP:0012595 IAO:0000115 Mildly increased levels of protein in the urine (150-500 mg per day in adults) Mildly increased levels of protein in the urine (150-500 mg per day in adults) NOT_TRANSLATED -en nl HP:0012596 rdfs:label Moderate proteinuria Matige proteïnurie CANDIDATE -en nl HP:0012596 IAO:0000115 Moderately increased levels of protein in the urine (500-1000 mg per day in adults) Moderately increased levels of protein in the urine (500-1000 mg per day in adults) NOT_TRANSLATED -en nl HP:0012597 rdfs:label Heavy proteinuria Zware proteïnurie CANDIDATE -en nl HP:0012597 IAO:0000115 Severely increased levels of protein in the urine (1000-3000 mg per day in adults) Severely increased levels of protein in the urine (1000-3000 mg per day in adults) NOT_TRANSLATED -en nl HP:0012598 rdfs:label Abnormal urine potassium concentration Afwijkende urine kalium concentratie CANDIDATE -en nl HP:0012598 IAO:0000115 An abnormal concentration of potassium(1+) in the urine An abnormal concentration of potassium(1+) in the urine NOT_TRANSLATED -en nl HP:0012599 rdfs:label Abnormal urine phosphate concentration Afwijkende urine fosfaat concentratie CANDIDATE -en nl HP:0012599 IAO:0000115 An abnormal phosphate concentration in the urine An abnormal phosphate concentration in the urine NOT_TRANSLATED -en nl HP:0012600 rdfs:label Abnormal urine chloride concentration Afwijkende urine chloride concentratie CANDIDATE -en nl HP:0012600 IAO:0000115 An abnormal concentration of chloride in the urine An abnormal concentration of chloride in the urine NOT_TRANSLATED -en nl HP:0012601 rdfs:label Hypochloriduria Hypochloridurie CANDIDATE -en nl HP:0012601 IAO:0000115 An decreased concentration of chloride in the urine An decreased concentration of chloride in the urine NOT_TRANSLATED -en nl HP:0012602 rdfs:label Renal chloride wasting Renaal chloride verlies CANDIDATE -en nl HP:0012602 IAO:0000115 High urine chloride in the presence of hypochloridemia High urine chloride in the presence of hypochloridemia NOT_TRANSLATED -en nl HP:0012603 rdfs:label Abnormal urine sodium concentration Afwijkende urine natrium concentratie CANDIDATE -en nl HP:0012603 IAO:0000115 An abnormal concentration of sodium in the urine An abnormal concentration of sodium in the urine NOT_TRANSLATED -en nl HP:0012604 rdfs:label Hyponatriuria Hyponatriurie CANDIDATE -en nl HP:0012604 IAO:0000115 An abnormally decreased sodium concentration in the urine An abnormally decreased sodium concentration in the urine NOT_TRANSLATED -en nl HP:0012605 rdfs:label Hypernatriuria Hypernatriurie CANDIDATE -en nl HP:0012605 IAO:0000115 An increased concentration of sodium(1+) in the urine An increased concentration of sodium(1+) in the urine NOT_TRANSLATED -en nl HP:0012606 rdfs:label Renal sodium wasting Renaal natrium verlies CANDIDATE -en nl HP:0012606 IAO:0000115 An abnormally increased sodium concentration in the urine in the presence of hyponatremia An abnormally increased sodium concentration in the urine in the presence of hyponatremia NOT_TRANSLATED -en nl HP:0012607 rdfs:label Abnormal urine magnesium concentration Afwijkende urine magnesium concentratie CANDIDATE -en nl HP:0012607 IAO:0000115 An abnormal concentration of magnesium the urine An abnormal concentration of magnesium the urine NOT_TRANSLATED -en nl HP:0012608 rdfs:label Hypermagnesiuria Hypermagnesiurie CANDIDATE -en nl HP:0012608 IAO:0000115 An increased concentration of magnesium the urine An increased concentration of magnesium the urine NOT_TRANSLATED -en nl HP:0012609 rdfs:label Hypomagnesiuria Hypomagnesiurie CANDIDATE -en nl HP:0012609 IAO:0000115 An decreased concentration of magnesium the urine An decreased concentration of magnesium the urine NOT_TRANSLATED -en nl HP:0012610 rdfs:label Abnormality of urinary uric acid level Afwijking urinezuur concentratie in urine CANDIDATE -en nl HP:0012610 IAO:0000115 Abnormal amount of urate in the urine Abnormal amount of urate in the urine NOT_TRANSLATED -en nl HP:0012612 rdfs:label Abnormal urinary sulfate concentration Afwijkende sulfaat concentratie in urine CANDIDATE -en nl HP:0012612 IAO:0000115 Abnormal concentration of sulfate in the urine Abnormal concentration of sulfate in the urine NOT_TRANSLATED -en nl HP:0012613 rdfs:label Increased urinary sulfate Verhoogd urine sulfaat CANDIDATE -en nl HP:0012613 IAO:0000115 Elevated concentration of SO4(2-), i.e., sulfate, in the urine Elevated concentration of SO4(2-), i.e., sulfate, in the urine NOT_TRANSLATED -en nl HP:0012614 rdfs:label Abnormal urine cytology Afwijkende urine cytologie CANDIDATE -en nl HP:0012614 IAO:0000115 An anomalous finding in the examination of the urine for cells An anomalous finding in the examination of the urine for cells NOT_TRANSLATED -en nl HP:0012615 rdfs:label Cylindruria Cylindrurie CANDIDATE -en nl HP:0012615 IAO:0000115 The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine NOT_TRANSLATED -en nl HP:0012616 rdfs:label Leukocyte cylindruria Leukocyten cylindrurie CANDIDATE -en nl HP:0012616 IAO:0000115 Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine NOT_TRANSLATED -en nl HP:0012617 rdfs:label Erythrocyte cylindruria Erytrocyten cylindrurie CANDIDATE -en nl HP:0012617 IAO:0000115 Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine NOT_TRANSLATED -en nl HP:0012618 rdfs:label Urachal cyst Urachale cyste CANDIDATE -en nl HP:0012618 IAO:0000115 A cyst located along the allantois canal A cyst located along the allantois canal NOT_TRANSLATED -en nl HP:0012619 rdfs:label Multiple bladder diverticula Multipele blaas divertikels CANDIDATE -en nl HP:0012619 IAO:0000115 Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder NOT_TRANSLATED -en nl HP:0012620 rdfs:label Cloacal abnormality Cloacale afwijking CANDIDATE -en nl HP:0012620 IAO:0000115 A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate NOT_TRANSLATED -en nl HP:0012621 rdfs:label Persistent cloaca Persisterende cloaca CANDIDATE -en nl HP:0012621 IAO:0000115 Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel NOT_TRANSLATED -en nl HP:0012622 rdfs:label Chronic kidney disease Chronische nierziekte CANDIDATE -en nl HP:0012622 IAO:0000115 Functional anomaly of the kidney persisting for at least three months Functional anomaly of the kidney persisting for at least three months NOT_TRANSLATED -en nl HP:0012623 rdfs:label Stage 1 chronic kidney disease Fase 1 chronische nierziekte CANDIDATE -en nl HP:0012623 IAO:0000115 A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2) A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2) NOT_TRANSLATED -en nl HP:0012624 rdfs:label Stage 2 chronic kidney disease Fase 2 chronische nierziekte CANDIDATE -en nl HP:0012624 IAO:0000115 A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2) A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2) NOT_TRANSLATED -en nl HP:0012625 rdfs:label Stage 3 chronic kidney disease Fase 3 chronische nierziekte CANDIDATE -en nl HP:0012625 IAO:0000115 A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2) A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2) NOT_TRANSLATED -en nl HP:0012626 rdfs:label Stage 4 chronic kidney disease Fase 4 chronische nierziekte CANDIDATE -en nl HP:0012626 IAO:0000115 A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2) A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2) NOT_TRANSLATED -en nl HP:0012627 rdfs:label Pseudoexfoliation Pseudo-exfoliatie CANDIDATE -en nl HP:0012627 IAO:0000115 Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor NOT_TRANSLATED -en nl HP:0012628 rdfs:label Abnormal suspensory ligament of lens morphology Afwijking van hetligamentum suspensorium Zinni CANDIDATE -en nl HP:0012628 IAO:0000115 An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place NOT_TRANSLATED -en nl HP:0012629 rdfs:label Phakodonesis Phakodonesis CANDIDATE -en nl HP:0012629 IAO:0000115 Tremulousness (trembling) of the lens of the eye Tremulousness (trembling) of the lens of the eye NOT_TRANSLATED -en nl HP:0012630 rdfs:label Abnormal trabecular meshwork morphology Afwijkende trabeculair netwerk morfologie CANDIDATE -en nl HP:0012630 IAO:0000115 An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm NOT_TRANSLATED -en nl HP:0012631 rdfs:label Pigment deposition in the trabecular meshwork Pigment depositie in trabeculair netwerk CANDIDATE -en nl HP:0012631 IAO:0000115 Accumulation of abnormal amounts of pigment within the trabecular meshwork Accumulation of abnormal amounts of pigment within the trabecular meshwork NOT_TRANSLATED -en nl HP:0012632 rdfs:label Abnormal intraocular pressure Afwijkende oogboldruk CANDIDATE -en nl HP:0012632 IAO:0000115 An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye NOT_TRANSLATED -en nl HP:0012633 rdfs:label Asymmetry of intraocular pressure Asymmetrie van de oogboldruk CANDIDATE -en nl HP:0012633 IAO:0000115 A difference in the amount of intraocular pressure in the right and left eye A difference in the amount of intraocular pressure in the right and left eye NOT_TRANSLATED -en nl HP:0012634 rdfs:label Iris pigment dispersion Iris pigment dispersie CANDIDATE -en nl HP:0012634 IAO:0000115 Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor NOT_TRANSLATED -en nl HP:0012635 rdfs:label Iris hypoperfusion Iris hypoperfusie CANDIDATE -en nl HP:0012635 IAO:0000115 Reduction in the amount of blood flow to the iris Reduction in the amount of blood flow to the iris NOT_TRANSLATED -en nl HP:0012636 rdfs:label Retinal vein occlusion Retinale veneuze occlusie CANDIDATE -en nl HP:0012636 IAO:0000115 Blockage of the retinal vein Blockage of the retinal vein NOT_TRANSLATED -en nl HP:0012637 rdfs:label Renal calcium wasting Renaal calcium verlies CANDIDATE -en nl HP:0012637 IAO:0000115 High urine calcium in the presence of hypocalcemia High urine calcium in the presence of hypocalcemia NOT_TRANSLATED -en nl HP:0012638 rdfs:label Abnormal nervous system physiology Afwijking van de fysiologie van het zenuwstelsel CANDIDATE -en nl HP:0012638 IAO:0000115 A functional anomaly of the nervous system A functional anomaly of the nervous system NOT_TRANSLATED -en nl HP:0012639 rdfs:label Abnormal nervous system morphology Afwijking van de zenuwstelsel morfologie CANDIDATE -en nl HP:0012639 IAO:0000115 A structural anomaly of the nervous system A structural anomaly of the nervous system NOT_TRANSLATED -en nl HP:0012640 rdfs:label Abnormality of intracranial pressure Afwijking van intracraniële druk CANDIDATE -en nl HP:0012640 IAO:0000115 A deviation from the norm of the intracranial pressure A deviation from the norm of the intracranial pressure NOT_TRANSLATED -en nl HP:0012641 rdfs:label Decreased intracranial pressure Verminderde intracraniële druk CANDIDATE -en nl HP:0012641 IAO:0000115 A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid NOT_TRANSLATED -en nl HP:0012642 rdfs:label Cerebellar agenesis Cerebellaire agenesie CANDIDATE -en nl HP:0012642 IAO:0000115 Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles NOT_TRANSLATED -en nl HP:0012643 rdfs:label Foveal hypopigmentation Foveale hypopigmentatie CANDIDATE -en nl HP:0012643 IAO:0000115 Decreased amount of pigmentation in the fovea centralis Decreased amount of pigmentation in the fovea centralis NOT_TRANSLATED -en nl HP:0012644 rdfs:label Increased caudate lactate level Toegenomen lactaat niveau in nucleus caudatus CANDIDATE -en nl HP:0012644 IAO:0000115 An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging NOT_TRANSLATED -en nl HP:0012645 rdfs:label Enlarged peripheral nerve Vergrote perifere zenuw CANDIDATE -en nl HP:0012645 IAO:0000115 Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve NOT_TRANSLATED -en nl HP:0012646 rdfs:label Retractile testis Retractiele testis CANDIDATE -en nl HP:0012646 IAO:0000115 A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex NOT_TRANSLATED -en nl HP:0012647 rdfs:label Abnormal inflammatory response Afwijkende inflammatoire reactie CANDIDATE -en nl HP:0012647 IAO:0000115 Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages NOT_TRANSLATED -en nl HP:0012648 rdfs:label Decreased inflammatory response Verminderde inflammatoire reactie CANDIDATE -en nl HP:0012648 IAO:0000115 An abnormal reduction in the inflammatory response to injury or infection An abnormal reduction in the inflammatory response to injury or infection NOT_TRANSLATED -en nl HP:0012649 rdfs:label Increased inflammatory response Toegenomen inflammatoire reactie CANDIDATE -en nl HP:0012649 IAO:0000115 A abnormal increase in the inflammatory response to injury or infection A abnormal increase in the inflammatory response to injury or infection NOT_TRANSLATED -en nl HP:0012650 rdfs:label Perisylvian polymicrogyria Perisylvius polymicrogyrie CANDIDATE -en nl HP:0012650 IAO:0000115 Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly NOT_TRANSLATED -en nl HP:0012651 rdfs:label Abasia Abasie CANDIDATE -en nl HP:0012651 IAO:0000115 A severe form of gait ataxia such that an affected person cannot walk at all A severe form of gait ataxia such that an affected person cannot walk at all NOT_TRANSLATED -en nl HP:0012652 rdfs:label Exercise-induced asthma Inspanning-geïnduceerde astma CANDIDATE -en nl HP:0012652 IAO:0000115 Asthma attacks following exercise Asthma attacks following exercise NOT_TRANSLATED -en nl HP:0012653 rdfs:label Status asthmaticus Status asthmaticus CANDIDATE -en nl HP:0012653 IAO:0000115 Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine NOT_TRANSLATED -en nl HP:0012654 rdfs:label Abnormal CSF dopamine concentration Afwijkend liquor dopamine niveau CANDIDATE -en nl HP:0012654 IAO:0000115 Abnormal concentration of dopamine in the cerebrospinal fluid (CSF) Abnormal concentration of dopamine in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0012655 rdfs:label Elevated CSF dopamine concentration Verhoogd liquor dopamine niveau CANDIDATE -en nl HP:0012655 IAO:0000115 Increased concentration of dopamine in the cerebrospinal fluid (CSF) Increased concentration of dopamine in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0012656 rdfs:label Reduced CSF dopamine concentration Afgenomen liquor dopamine niveau CANDIDATE -en nl HP:0012656 IAO:0000115 Decreased concentration of dopamine in the cerebrospinal fluid (CSF) Decreased concentration of dopamine in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0012657 rdfs:label Abnormal brain positron emission tomography Afwijkende brein PET CANDIDATE -en nl HP:0012657 IAO:0000115 A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain NOT_TRANSLATED -en nl HP:0012658 rdfs:label Abnormal brain FDG positron emission tomography Afwijkende brein FDG-PET CANDIDATE -en nl HP:0012658 IAO:0000115 An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity NOT_TRANSLATED -en nl HP:0012659 rdfs:label Prefrontal hypometabolism in FDG PET Prefrontaal hypometabolisme op FDG-PET CANDIDATE -en nl HP:0012659 IAO:0000115 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED -en nl HP:0012660 rdfs:label Thalamic hypometabolism in FDG PET Thalamus hypometabolisme op FDG-PET CANDIDATE -en nl HP:0012660 IAO:0000115 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED -en nl HP:0012661 rdfs:label Hypothalamic hypometabolism in FDG PET Hypothalamus hypometabolisme op FDG-PET CANDIDATE -en nl HP:0012661 IAO:0000115 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED -en nl HP:0012662 rdfs:label Parietal hypometabolism in FDG PET Pariëtaal hypometabolisme op FDG-PET CANDIDATE -en nl HP:0012662 IAO:0000115 Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED -en nl HP:0012663 rdfs:label Mildly reduced left ventricular ejection fraction Mild verminderde ejectiefractie CANDIDATE -en nl HP:0012663 IAO:0000115 A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent NOT_TRANSLATED -en nl HP:0012664 rdfs:label Reduced left ventricular ejection fraction Verminderde ejectiefractie CANDIDATE -en nl HP:0012664 IAO:0000115 A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle NOT_TRANSLATED -en nl HP:0012665 rdfs:label Moderately reduced left ventricular ejection fraction Matig verminderde ejectiefractie CANDIDATE -en nl HP:0012665 IAO:0000115 A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent NOT_TRANSLATED -en nl HP:0012666 rdfs:label Severely reduced left ventricular ejection fraction Ernstig verminderde ejectiefractie CANDIDATE -en nl HP:0012666 IAO:0000115 A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent NOT_TRANSLATED -en nl HP:0012667 rdfs:label Regional left ventricular wall motion abnormality Regional left ventricular wall motion abnormality NOT_TRANSLATED -en nl HP:0012667 IAO:0000115 An abnormal motion of a segment of the left ventricle during the cardiac cycle An abnormal motion of a segment of the left ventricle during the cardiac cycle NOT_TRANSLATED -en nl HP:0012668 rdfs:label Vasovagal syncope Vasovagale syncope CANDIDATE -en nl HP:0012669 rdfs:label Carotid sinus syncope Sinus caroticus syncope CANDIDATE -en nl HP:0012669 IAO:0000115 An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion NOT_TRANSLATED -en nl HP:0012670 rdfs:label Orthostatic syncope Orthostatische syncope CANDIDATE -en nl HP:0012670 IAO:0000115 Syncope following a quick change in position from lying down to standing Syncope following a quick change in position from lying down to standing NOT_TRANSLATED -en nl HP:0012671 rdfs:label Abulia Abulie CANDIDATE -en nl HP:0012671 IAO:0000115 Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency NOT_TRANSLATED -en nl HP:0012672 rdfs:label Akinetic mutism Akinetisch mutisme CANDIDATE -en nl HP:0012672 IAO:0000115 Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking NOT_TRANSLATED -en nl HP:0012673 rdfs:label Aplasia of the upper vagina Aplasie van het bovenste deel van vagina CANDIDATE -en nl HP:0012673 IAO:0000115 A failure to develop of the upper vagina A failure to develop of the upper vagina NOT_TRANSLATED -en nl HP:0012674 rdfs:label Aplasia of the lower vagina Aplasie van het onderste deel van vagina CANDIDATE -en nl HP:0012674 IAO:0000115 A failure to develop of the lower part of the vagina A failure to develop of the lower part of the vagina NOT_TRANSLATED -en nl HP:0012675 rdfs:label Iron accumulation in brain Ijzer accumulatie in brein CANDIDATE -en nl HP:0012675 IAO:0000115 An abnormal build up of iron (Fe) in brain tissue An abnormal build up of iron (Fe) in brain tissue NOT_TRANSLATED -en nl HP:0012676 rdfs:label Copper accumulation in brain Koper accumulatie in brein CANDIDATE -en nl HP:0012676 IAO:0000115 An anomalous build up of copper (Cu) in the brain An anomalous build up of copper (Cu) in the brain NOT_TRANSLATED -en nl HP:0012678 rdfs:label Iron accumulation in substantia nigra Ijzer accumulatie in substantia nigra CANDIDATE -en nl HP:0012678 IAO:0000115 An anomalous build up of iron (Fe) in the substantia nigra An anomalous build up of iron (Fe) in the substantia nigra NOT_TRANSLATED -en nl HP:0012679 rdfs:label Widened interpedicular distance Verbreedde interpediculaire afstand CANDIDATE -en nl HP:0012679 IAO:0000115 An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces NOT_TRANSLATED -en nl HP:0012680 rdfs:label Abnormality of the pineal gland Afwijking van de epifyse CANDIDATE -en nl HP:0012680 IAO:0000115 An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin NOT_TRANSLATED -en nl HP:0012681 rdfs:label Abnormal pineal morphology Afwijking van epifyse morfologie CANDIDATE -en nl HP:0012681 IAO:0000115 A structural abnormality of the pineal gland A structural abnormality of the pineal gland NOT_TRANSLATED -en nl HP:0012682 rdfs:label Pineal gland calcification Epifyse calcificatie CANDIDATE -en nl HP:0012682 IAO:0000115 Accumulation of calcium salts in the pineal gland Accumulation of calcium salts in the pineal gland NOT_TRANSLATED -en nl HP:0012683 rdfs:label Pineal cyst Epifyse cyste CANDIDATE -en nl HP:0012683 IAO:0000115 A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland NOT_TRANSLATED -en nl HP:0012684 rdfs:label Abnormal pineal volume Afwijkend epifyse volume CANDIDATE -en nl HP:0012684 IAO:0000115 An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland NOT_TRANSLATED -en nl HP:0012685 rdfs:label Decreased pineal volume Verminderd epifyse volume CANDIDATE -en nl HP:0012685 IAO:0000115 An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland NOT_TRANSLATED -en nl HP:0012686 rdfs:label Increased pineal volume Toegenomen epifyse volume CANDIDATE -en nl HP:0012686 IAO:0000115 An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland NOT_TRANSLATED -en nl HP:0012687 rdfs:label Agenesis of pineal gland Agenesie van epifyse CANDIDATE -en nl HP:0012687 IAO:0000115 Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present NOT_TRANSLATED -en nl HP:0012688 rdfs:label Abnormality of pineal physiology Afwijking van de epifyse fysiologie CANDIDATE -en nl HP:0012688 IAO:0000115 A functional abnormality of the pineal gland A functional abnormality of the pineal gland NOT_TRANSLATED -en nl HP:0012689 rdfs:label Abnormal pineal melatonin secretion Afwijkende epifyse melatonine secretie CANDIDATE -en nl HP:0012689 IAO:0000115 An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland NOT_TRANSLATED -en nl HP:0012690 rdfs:label T2 hypointense thalamus T2 hypointense thalamus CANDIDATE -en nl HP:0012690 IAO:0000115 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus NOT_TRANSLATED -en nl HP:0012691 rdfs:label Focal T2 hypointense thalamic lesion Focale T2 hypointense thalamus lesie CANDIDATE -en nl HP:0012691 IAO:0000115 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus NOT_TRANSLATED -en nl HP:0012692 rdfs:label Focal T2 hyperintense thalamic lesion Focale T2 hyperintense thalamus lesie CANDIDATE -en nl HP:0012692 IAO:0000115 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus NOT_TRANSLATED -en nl HP:0012693 rdfs:label Abnormal thalamic size Afwijkende thalamus grootte CANDIDATE -en nl HP:0012693 IAO:0000115 Deviation from the normal range of size of the thalamus Deviation from the normal range of size of the thalamus NOT_TRANSLATED -en nl HP:0012694 rdfs:label Enlarged thalamic volume Vergroot thalamus volume CANDIDATE -en nl HP:0012694 IAO:0000115 An increase in the quantity of space occupied by the thalamus An increase in the quantity of space occupied by the thalamus NOT_TRANSLATED -en nl HP:0012695 rdfs:label Decreased thalamic volume Verminderd thalamus volume CANDIDATE -en nl HP:0012695 IAO:0000115 A reduction in the quantity of space occupied by the thalamus A reduction in the quantity of space occupied by the thalamus NOT_TRANSLATED -en nl HP:0012696 rdfs:label Abnormal thalamic MRI signal intensity Afwijkende thalamus MRI signaal intensiteit CANDIDATE -en nl HP:0012696 IAO:0000115 A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus NOT_TRANSLATED -en nl HP:0012697 rdfs:label Small basal ganglia Kleine basale ganglia CANDIDATE -en nl HP:0012697 IAO:0000115 Decreased size of the basal ganglia Decreased size of the basal ganglia NOT_TRANSLATED -en nl HP:0012698 rdfs:label Cerebellar gliosis Cerebellaire gliosis CANDIDATE -en nl HP:0012698 IAO:0000115 Focal proliferation of glial cells in the cerebellum Focal proliferation of glial cells in the cerebellum NOT_TRANSLATED -en nl HP:0012699 rdfs:label Anomaly of lower limb diaphyses Anomalie van de diafysen van onderste ledematen CANDIDATE -en nl HP:0012699 IAO:0000115 A structural abnormality of a diaphysis of the leg A structural abnormality of a diaphysis of the leg NOT_TRANSLATED -en nl HP:0012700 rdfs:label Abnormal large intestine physiology Afwijkende dikke darm fysiologie CANDIDATE -en nl HP:0012700 IAO:0000115 A functional anomaly of the large intestine A functional anomaly of the large intestine NOT_TRANSLATED -en nl HP:0012701 rdfs:label Bowel urgency Darmoedeus CANDIDATE -en nl HP:0012701 IAO:0000115 A sudden, irresistible need to have a bowel movement A sudden, irresistible need to have a bowel movement NOT_TRANSLATED -en nl HP:0012702 rdfs:label Tenesmus Tenesmus CANDIDATE -en nl HP:0012702 IAO:0000115 A repeated, painful urge to defecate without excreting stool A repeated, painful urge to defecate without excreting stool NOT_TRANSLATED -en nl HP:0012703 rdfs:label Abnormal subarachnoid space morphology Afwijking van de subarachnoïdale ruimte CANDIDATE -en nl HP:0012703 IAO:0000115 Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0012704 rdfs:label Widened subarachnoid space Verbrede subarachnoïdale ruimte CANDIDATE -en nl HP:0012704 IAO:0000115 An increase in size of the anatomic space between the arachnoid membrane and pia mater An increase in size of the anatomic space between the arachnoid membrane and pia mater NOT_TRANSLATED -en nl HP:0012705 rdfs:label Abnormal metabolic brain imaging by MRS Afwijkend metabole beeldvorming van de hersenen met MRS CANDIDATE -en nl HP:0012705 IAO:0000115 An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS) An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0012706 rdfs:label Elevated brain choline level by MRS Toegenomen brein choline niveau met MRS CANDIDATE -en nl HP:0012706 IAO:0000115 An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0012707 rdfs:label Elevated brain lactate level by MRS Toegenomen brein lactaat niveau met MRS CANDIDATE -en nl HP:0012707 IAO:0000115 An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0012708 rdfs:label Reduced brain N-acetyl aspartate level by MRS Afgenomen brein N-acetylaspartaat niveau met MRS CANDIDATE -en nl HP:0012708 IAO:0000115 A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0012709 rdfs:label Abnormal brain choline/creatine ratio by MRS Afwijkende brein choline/creatine ratio met MRS CANDIDATE -en nl HP:0012709 IAO:0000115 A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS) A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0012710 rdfs:label Ingrown nail Ingegroeide nagel CANDIDATE -en nl HP:0012710 IAO:0000115 Excessive growth of a nail laterally into the nail fold Excessive growth of a nail laterally into the nail fold NOT_TRANSLATED -en nl HP:0012711 rdfs:label Delayed ossification of vertebral epiphysis Vertraagde ossificatie vertebrale epifyse CANDIDATE -en nl HP:0012711 IAO:0000115 A delay in the process of formation and maturation of the epiphysis of one or more vertebrae A delay in the process of formation and maturation of the epiphysis of one or more vertebrae NOT_TRANSLATED -en nl HP:0012712 rdfs:label Mild hearing impairment Milde slechthorendheid CANDIDATE -en nl HP:0012712 IAO:0000115 The presence of a mild form of hearing impairment The presence of a mild form of hearing impairment NOT_TRANSLATED -en nl HP:0012713 rdfs:label Moderate hearing impairment Matige slechthorendheid CANDIDATE -en nl HP:0012713 IAO:0000115 The presence of a moderate form of hearing impairment The presence of a moderate form of hearing impairment NOT_TRANSLATED -en nl HP:0012714 rdfs:label Severe hearing impairment Ernstige slechthorendheid CANDIDATE -en nl HP:0012714 IAO:0000115 A severe form of hearing impairment A severe form of hearing impairment NOT_TRANSLATED -en nl HP:0012715 rdfs:label Profound hearing impairment Verregaande slechthorendheid CANDIDATE -en nl HP:0012715 IAO:0000115 A profound (essentially complete) form of hearing impairment A profound (essentially complete) form of hearing impairment NOT_TRANSLATED -en nl HP:0012716 rdfs:label Moderate conductive hearing impairment Matige conductieve slechthorendheid CANDIDATE -en nl HP:0012716 IAO:0000115 The presence of a moderate form of conductive hearing impairment The presence of a moderate form of conductive hearing impairment NOT_TRANSLATED -en nl HP:0012717 rdfs:label Severe conductive hearing impairment Ernstige conductieve slechthorendheid CANDIDATE -en nl HP:0012717 IAO:0000115 A severe form of conductive hearing impairment A severe form of conductive hearing impairment NOT_TRANSLATED -en nl HP:0012718 rdfs:label Morphological abnormality of the gastrointestinal tract Morfologische afwijking van het gastro-instestinale stelsel CANDIDATE -en nl HP:0012718 IAO:0000115 Abnormal structure of the gastrointestinal tract Abnormal structure of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0012719 rdfs:label Functional abnormality of the gastrointestinal tract Functionele afwijking van het gastro-instestinale stelsel CANDIDATE -en nl HP:0012719 IAO:0000115 Abnormal functionality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract NOT_TRANSLATED -en nl HP:0012720 rdfs:label Neoplasm of the nose Neoplasma van de neus CANDIDATE -en nl HP:0012720 IAO:0000115 Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity NOT_TRANSLATED -en nl HP:0012721 rdfs:label Venous malformation Veneuze malformatie CANDIDATE -en nl HP:0012721 IAO:0000115 A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region NOT_TRANSLATED -en nl HP:0012722 rdfs:label Heart block Hartblok CANDIDATE -en nl HP:0012722 IAO:0000115 Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway NOT_TRANSLATED -en nl HP:0012723 rdfs:label Sinoatrial block Sino-auriculair blok CANDIDATE -en nl HP:0012723 IAO:0000115 Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria NOT_TRANSLATED -en nl HP:0012724 rdfs:label Upper eyelid edema Bovenste ooglid oedeem CANDIDATE -en nl HP:0012724 IAO:0000115 Edema in the region of the upper eyelid Edema in the region of the upper eyelid NOT_TRANSLATED -en nl HP:0012725 rdfs:label Cutaneous syndactyly Cutane syndactylie CANDIDATE -en nl HP:0012725 IAO:0000115 A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits NOT_TRANSLATED -en nl HP:0012726 rdfs:label Episodic hypokalemia Episodische hypokaliëmie CANDIDATE -en nl HP:0012726 IAO:0000115 An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes NOT_TRANSLATED -en nl HP:0012727 rdfs:label Thoracic aortic aneurysm Thoracale aorta aneurysma CANDIDATE -en nl HP:0012727 IAO:0000115 An abnormal localized widening (dilatation) of the thoracic aorta An abnormal localized widening (dilatation) of the thoracic aorta NOT_TRANSLATED -en nl HP:0012728 rdfs:label Fusiform descending thoracic aortic aneurysm Fusiform thoracaal aorta descendens aneurysma CANDIDATE -en nl HP:0012728 IAO:0000115 A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall NOT_TRANSLATED -en nl HP:0012729 rdfs:label Saccular descending thoracic aortic aneurysm Sacculair thoracaal aorta descendens aneurysma CANDIDATE -en nl HP:0012729 IAO:0000115 An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall NOT_TRANSLATED -en nl HP:0012730 rdfs:label Aglossia Aglossie CANDIDATE -en nl HP:0012730 IAO:0000115 Absence of the tongue owing to a developmental abnormality Absence of the tongue owing to a developmental abnormality NOT_TRANSLATED -en nl HP:0012731 rdfs:label Ectopic anterior pituitary gland Ectopische hypofysevoorkwab CANDIDATE -en nl HP:0012731 IAO:0000115 Abnormal anatomic location of the anterior pituitary gland Abnormal anatomic location of the anterior pituitary gland NOT_TRANSLATED -en nl HP:0012732 rdfs:label Anorectal anomaly Anorectale afwijking CANDIDATE -en nl HP:0012732 IAO:0000115 An abnormality of the anus or rectum An abnormality of the anus or rectum NOT_TRANSLATED -en nl HP:0012733 rdfs:label Macule Macula CANDIDATE -en nl HP:0012733 IAO:0000115 A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin NOT_TRANSLATED -en nl HP:0012734 rdfs:label Ketotic hypoglycemia Ketotische hypoglykemie CANDIDATE -en nl HP:0012734 IAO:0000115 Low blood glucose is accompanied by elevated levels of ketone bodies in the body Low blood glucose is accompanied by elevated levels of ketone bodies in the body NOT_TRANSLATED -en nl HP:0012735 rdfs:label Cough Hoest CANDIDATE -en nl HP:0012735 IAO:0000115 A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation NOT_TRANSLATED -en nl HP:0012736 rdfs:label Profound global developmental delay Verregaande globale vertraging in de ontwikkeling CANDIDATE -en nl HP:0012736 IAO:0000115 A profound delay in the achievement of motor or mental milestones in the domains of development of a child A profound delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED -en nl HP:0012737 rdfs:label Small intestinal polyp Dunne dorm poliep CANDIDATE -en nl HP:0012737 IAO:0000115 A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base NOT_TRANSLATED -en nl HP:0012738 rdfs:label Agenesis of canine Agenesie van hoektand CANDIDATE -en nl HP:0012738 IAO:0000115 Agenesis of canine tooth Agenesis of canine tooth NOT_TRANSLATED -en nl HP:0012739 rdfs:label Agenesis of the small intestine Agenesie van de dunne darm CANDIDATE -en nl HP:0012739 IAO:0000115 Failure to develop of the small intestine Failure to develop of the small intestine NOT_TRANSLATED -en nl HP:0012740 rdfs:label Papilloma Papilloom CANDIDATE -en nl HP:0012740 IAO:0000115 A tumor of the skin or mucous membrane with finger-like projections A tumor of the skin or mucous membrane with finger-like projections NOT_TRANSLATED -en nl HP:0012741 rdfs:label Unilateral cryptorchidism Unilateraal cryptorchisme CANDIDATE -en nl HP:0012741 IAO:0000115 Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum NOT_TRANSLATED -en nl HP:0012742 rdfs:label Thin fingernail Dunne vingernagel CANDIDATE -en nl HP:0012742 IAO:0000115 Fingernail that appears thin when viewed on end Fingernail that appears thin when viewed on end NOT_TRANSLATED -en nl HP:0012743 rdfs:label Abdominal obesity Abdominale obesitas CANDIDATE -en nl HP:0012743 IAO:0000115 Excessive fat around the stomach and abdomen Excessive fat around the stomach and abdomen NOT_TRANSLATED -en nl HP:0012744 rdfs:label Femoral aplasia Femorale aplasie CANDIDATE -en nl HP:0012744 IAO:0000115 Failure of the femur to develop Failure of the femur to develop NOT_TRANSLATED -en nl HP:0012745 rdfs:label Short palpebral fissure Korte ooglidspleet CANDIDATE -en nl HP:0012745 IAO:0000115 Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures NOT_TRANSLATED -en nl HP:0012746 rdfs:label Thin toenail Dunne teennagel CANDIDATE -en nl HP:0012746 IAO:0000115 Toenail that appears thin when viewed on end Toenail that appears thin when viewed on end NOT_TRANSLATED -en nl HP:0012747 rdfs:label Abnormal brainstem MRI signal intensity Afwijkende hersenstam MRI signaal intensiteit CANDIDATE -en nl HP:0012747 IAO:0000115 A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem NOT_TRANSLATED -en nl HP:0012748 rdfs:label Focal T2 hyperintense brainstem lesion Focale T2 hyperintense hersenstam laesie CANDIDATE -en nl HP:0012748 IAO:0000115 A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem NOT_TRANSLATED -en nl HP:0012749 rdfs:label Focal T2 hypointense brainstem lesion Focale T2 hypointense hersenstam laesie CANDIDATE -en nl HP:0012749 IAO:0000115 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem NOT_TRANSLATED -en nl HP:0012750 rdfs:label T2 hypointense brainstem T2 hypointense hersenstam CANDIDATE -en nl HP:0012750 IAO:0000115 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem NOT_TRANSLATED -en nl HP:0012751 rdfs:label Abnormal basal ganglia MRI signal intensity Afwijkende basale ganglia MRI signaal intensiteit CANDIDATE -en nl HP:0012751 IAO:0000115 A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia NOT_TRANSLATED -en nl HP:0012752 rdfs:label Focal T2 hypointense basal ganglia lesion Focale T2 hypointense basale ganglia laesie CANDIDATE -en nl HP:0012752 IAO:0000115 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia NOT_TRANSLATED -en nl HP:0012753 rdfs:label T2 hypointense basal ganglia T2 hypointense basale ganglia CANDIDATE -en nl HP:0012753 IAO:0000115 A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia NOT_TRANSLATED -en nl HP:0012754 rdfs:label CNS hypermyelination CZS hypermyelinisatie CANDIDATE -en nl HP:0012754 IAO:0000115 Increased amount of myelin in the central nervous system Increased amount of myelin in the central nervous system NOT_TRANSLATED -en nl HP:0012755 rdfs:label Enlarged brainstem Vergrote hersenstam CANDIDATE -en nl HP:0012755 IAO:0000115 Abnormal increase in size of the brainstem Abnormal increase in size of the brainstem NOT_TRANSLATED -en nl HP:0012756 rdfs:label CSF polymorphonuclear pleocytosis Liquor polymorfonucleaire pleiocytose CANDIDATE -en nl HP:0012756 IAO:0000115 An increased polymorphonuclear cell count in the cerebrospinal fluid An increased polymorphonuclear cell count in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0012757 rdfs:label Abnormal neuron morphology Afwijkende neuron morfologie CANDIDATE -en nl HP:0012757 IAO:0000115 A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions NOT_TRANSLATED -en nl HP:0012758 rdfs:label Neurodevelopmental delay Achterstand in neurologische ontwikkeling CANDIDATE -en nl HP:0012758 IAO:0000115 Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems NOT_TRANSLATED -en nl HP:0012759 rdfs:label Neurodevelopmental abnormality Afwijking in neurologische ontwikkeling CANDIDATE -en nl HP:0012759 IAO:0000115 A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities NOT_TRANSLATED -en nl HP:0012760 rdfs:label Impaired social reciprocity Verminderde sociale reciprociteit CANDIDATE -en nl HP:0012760 IAO:0000115 A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first NOT_TRANSLATED -en nl HP:0012761 rdfs:label Absent mastoid Afwezig mastoïd CANDIDATE -en nl HP:0012761 IAO:0000115 A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent NOT_TRANSLATED -en nl HP:0012762 rdfs:label Cerebral white matter atrophy Atrofie van de cerebrale witte stof CANDIDATE -en nl HP:0012762 IAO:0000115 The presence of atrophy (wasting) of the cerebral white matter The presence of atrophy (wasting) of the cerebral white matter NOT_TRANSLATED -en nl HP:0012763 rdfs:label Paroxysmal dyspnea Paroxysmale dyspnoe CANDIDATE -en nl HP:0012763 IAO:0000115 A sudden attack of dyspnea that occurs while the affected person is at rest A sudden attack of dyspnea that occurs while the affected person is at rest NOT_TRANSLATED -en nl HP:0012764 rdfs:label Orthopnea Orthopnoe CANDIDATE -en nl HP:0012764 IAO:0000115 A sensation of breathlessness in the recumbent position, relieved by sitting or standing A sensation of breathlessness in the recumbent position, relieved by sitting or standing NOT_TRANSLATED -en nl HP:0012765 rdfs:label Widened cerebellar subarachnoid space Verbrede cerebellaire subarachnoïdale ruimte CANDIDATE -en nl HP:0012765 IAO:0000115 An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum NOT_TRANSLATED -en nl HP:0012766 rdfs:label Widened cerebral subarachnoid space Verbrede cerebrale subarachnoïdale ruimte CANDIDATE -en nl HP:0012766 IAO:0000115 An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum NOT_TRANSLATED -en nl HP:0012767 rdfs:label Abnormal placental size Afwijkende grootte van de placenta CANDIDATE -en nl HP:0012767 IAO:0000115 A deviation from normal size of the placenta A deviation from normal size of the placenta NOT_TRANSLATED -en nl HP:0012768 rdfs:label Neonatal asphyxia Neonatale asfyxie CANDIDATE -en nl HP:0012768 IAO:0000115 Respiratory failure in the newborn Respiratory failure in the newborn NOT_TRANSLATED -en nl HP:0012769 rdfs:label Abnormal arm span Afwijkende spanwijdte CANDIDATE -en nl HP:0012769 IAO:0000115 A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) NOT_TRANSLATED -en nl HP:0012770 rdfs:label Reduced arm span Verminderde spanwijdte CANDIDATE -en nl HP:0012770 IAO:0000115 Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) NOT_TRANSLATED -en nl HP:0012771 rdfs:label Increased arm span Toegenomen spanwijdte CANDIDATE -en nl HP:0012771 IAO:0000115 Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) NOT_TRANSLATED -en nl HP:0012772 rdfs:label Abnormal upper to lower segment ratio Afwijkend upper-to-lower segment ratio CANDIDATE -en nl HP:0012772 IAO:0000115 A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis NOT_TRANSLATED -en nl HP:0012773 rdfs:label Reduced upper to lower segment ratio Afgenomen upper-to-lower segment ratio CANDIDATE -en nl HP:0012773 IAO:0000115 Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present NOT_TRANSLATED -en nl HP:0012774 rdfs:label Increased upper to lower segment ratio Toegenomen upper-to-lower segment ratio CANDIDATE -en nl HP:0012774 IAO:0000115 Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis NOT_TRANSLATED -en nl HP:0012775 rdfs:label Stellate iris Iris stellata CANDIDATE -en nl HP:0012775 IAO:0000115 A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel NOT_TRANSLATED -en nl HP:0012776 rdfs:label Abnormal ciliary body morphology Afwijking van het straalvormig lichaam CANDIDATE -en nl HP:0012776 IAO:0000115 A structural anomaly of the ciliary body A structural anomaly of the ciliary body NOT_TRANSLATED -en nl HP:0012777 rdfs:label Retinal neoplasm Retinaal neoplasma CANDIDATE -en nl HP:0012777 IAO:0000115 A tumor (abnormal growth of tissue) of the retina A tumor (abnormal growth of tissue) of the retina NOT_TRANSLATED -en nl HP:0012778 rdfs:label Retinal astrocytic hamartoma Retinaal astrocytair hamartoom CANDIDATE -en nl HP:0012778 IAO:0000115 A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte NOT_TRANSLATED -en nl HP:0012779 rdfs:label Transient hearing impairment Voorbijgaande slechthorendheid CANDIDATE -en nl HP:0012779 IAO:0000115 Hearing loss that occurs acutely and resolves completely Hearing loss that occurs acutely and resolves completely NOT_TRANSLATED -en nl HP:0012780 rdfs:label Neoplasm of the ear Neoplasma van het oor CANDIDATE -en nl HP:0012780 IAO:0000115 A tumor (abnormal growth of tissue) of the ear A tumor (abnormal growth of tissue) of the ear NOT_TRANSLATED -en nl HP:0012781 rdfs:label Mid-frequency hearing loss Midden-frequentie gehoorverlies CANDIDATE -en nl HP:0012781 IAO:0000115 A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz) A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz) NOT_TRANSLATED -en nl HP:0012782 rdfs:label Perilobar nephrogenic rest Perilobaire nefrogene rest CANDIDATE -en nl HP:0012782 IAO:0000115 A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe NOT_TRANSLATED -en nl HP:0012783 rdfs:label Intralobar nephrogenic rest Intralobaire nefrogene rest CANDIDATE -en nl HP:0012783 IAO:0000115 A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls NOT_TRANSLATED -en nl HP:0012784 rdfs:label Perinephritis Perinefritis CANDIDATE -en nl HP:0012784 IAO:0000115 Inflammation of the connective and adipose tissues surrounding the kidney Inflammation of the connective and adipose tissues surrounding the kidney NOT_TRANSLATED -en nl HP:0012785 rdfs:label Flexion contracture of finger Flexiecontractuur van de vinger CANDIDATE -en nl HP:0012785 IAO:0000115 Chronic loss of joint motion in a finger due to structural changes in non-bony tissue Chronic loss of joint motion in a finger due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0012786 rdfs:label Recurrent cystitis Recidiverende cystitis CANDIDATE -en nl HP:0012786 IAO:0000115 Repeated infections of the urinary bladder Repeated infections of the urinary bladder NOT_TRANSLATED -en nl HP:0012787 rdfs:label Recurrent pyelonephritis Recidiverende pyelonefritis CANDIDATE -en nl HP:0012787 IAO:0000115 Repeated episodes of pyelonephritis Repeated episodes of pyelonephritis NOT_TRANSLATED -en nl HP:0012788 rdfs:label Reticulate pigmentation of oral mucosa Reticulate pigmentation of oral mucosa NOT_TRANSLATED -en nl HP:0012788 IAO:0000115 A net-like pattern of increased pigmentation of the oral cavity A net-like pattern of increased pigmentation of the oral cavity NOT_TRANSLATED -en nl HP:0012789 rdfs:label Hypoplasia of the calcaneus Hypoplasie van de calcaneus CANDIDATE -en nl HP:0012789 IAO:0000115 Underdevelopment of the heel bone Underdevelopment of the heel bone NOT_TRANSLATED -en nl HP:0012790 rdfs:label Abnormal intramembranous ossification Afwijkende intramembraneuze ossificatie CANDIDATE -en nl HP:0012790 IAO:0000115 An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed NOT_TRANSLATED -en nl HP:0012791 rdfs:label Abnormal humeral ossification Afwijkende humerus ossificatie CANDIDATE -en nl HP:0012791 IAO:0000115 An anomaly of the process of formation of bone in the humerus An anomaly of the process of formation of bone in the humerus NOT_TRANSLATED -en nl HP:0012792 rdfs:label Absent ossification of thoracic vertebral bodies Afwezige ossificatie van thoracale wervellichamen CANDIDATE -en nl HP:0012792 IAO:0000115 A lack of bone mineralization of one or more body of thoracic vertebra A lack of bone mineralization of one or more body of thoracic vertebra NOT_TRANSLATED -en nl HP:0012793 rdfs:label Kinked brainstem Kinked brainstem NOT_TRANSLATED -en nl HP:0012793 IAO:0000115 A kinked appearance of the brainstem, i.e., an exaggerated flexure A kinked appearance of the brainstem, i.e., an exaggerated flexure NOT_TRANSLATED -en nl HP:0012794 rdfs:label Periventricular white matter hypodensities Periventriculaire witte stof hypodensiteiten CANDIDATE -en nl HP:0012794 IAO:0000115 Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles NOT_TRANSLATED -en nl HP:0012795 rdfs:label Abnormal optic disc morphology Afwijking van de optische schijf CANDIDATE -en nl HP:0012795 IAO:0000115 A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination NOT_TRANSLATED -en nl HP:0012796 rdfs:label Increased cup-to-disc ratio Toegenomen cup/disc ratio CANDIDATE -en nl HP:0012796 IAO:0000115 An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells NOT_TRANSLATED -en nl HP:0012797 rdfs:label Lymphatic vessel neoplasm Lymfevat neoplasma CANDIDATE -en nl HP:0012797 IAO:0000115 A benign or malignant neoplasm arising from the lymphatic vessels A benign or malignant neoplasm arising from the lymphatic vessels NOT_TRANSLATED -en nl HP:0012798 rdfs:label Pulmonary lymphangiomyomatosis Pulmonale lymfangiomyomatose CANDIDATE -en nl HP:0012798 IAO:0000115 Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls NOT_TRANSLATED -en nl HP:0012799 rdfs:label Unilateral facial palsy Unilaterale facialis parese CANDIDATE -en nl HP:0012799 IAO:0000115 One-sided weakness of the muscles of facial expression and eye closure One-sided weakness of the muscles of facial expression and eye closure NOT_TRANSLATED -en nl HP:0012800 rdfs:label Accessory cranial suture Extra craniale sutuur CANDIDATE -en nl HP:0012800 IAO:0000115 A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant NOT_TRANSLATED -en nl HP:0012801 rdfs:label Narrow jaw Smalle kaak CANDIDATE -en nl HP:0012801 IAO:0000115 Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective) Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective) NOT_TRANSLATED -en nl HP:0012802 rdfs:label Broad jaw Brede kaak CANDIDATE -en nl HP:0012802 IAO:0000115 Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective) Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective) NOT_TRANSLATED -en nl HP:0012803 rdfs:label Anisometropia Anisometropie CANDIDATE -en nl HP:0012803 IAO:0000115 Inequality of refractive power of the two eyes Inequality of refractive power of the two eyes NOT_TRANSLATED -en nl HP:0012804 rdfs:label Corneal ulceration Corneale ulceratie CANDIDATE -en nl HP:0012804 IAO:0000115 Disruption of the epithelial layer of the cornea with involvement of the underlying stroma Disruption of the epithelial layer of the cornea with involvement of the underlying stroma NOT_TRANSLATED -en nl HP:0012805 rdfs:label Iris transillumination defect Iris transilluminatie defect CANDIDATE -en nl HP:0012805 IAO:0000115 Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris NOT_TRANSLATED -en nl HP:0012806 rdfs:label Proboscis Proboscis CANDIDATE -en nl HP:0012806 IAO:0000115 A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline NOT_TRANSLATED -en nl HP:0012807 rdfs:label High insertion of columella Hoge insertie van columella CANDIDATE -en nl HP:0012807 IAO:0000115 Insertion of the posterior columella superior to the nasal base Insertion of the posterior columella superior to the nasal base NOT_TRANSLATED -en nl HP:0012808 rdfs:label Abnormal nasal base norphology Afwijking van neusbasis CANDIDATE -en nl HP:0012808 IAO:0000115 An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face NOT_TRANSLATED -en nl HP:0012809 rdfs:label Narrow nasal base Smalle neusbasis CANDIDATE -en nl HP:0012809 IAO:0000115 Decreased distance between the attachments of the alae nasi to the face Decreased distance between the attachments of the alae nasi to the face NOT_TRANSLATED -en nl HP:0012810 rdfs:label Wide nasal base Brede neusbasis CANDIDATE -en nl HP:0012810 IAO:0000115 Increased distance between the attachments of the alae nasi to the face Increased distance between the attachments of the alae nasi to the face NOT_TRANSLATED -en nl HP:0012811 rdfs:label Wide nasal ridge Wide nasal ridge NOT_TRANSLATED -en nl HP:0012811 IAO:0000115 Increased width of the nasal ridge Increased width of the nasal ridge NOT_TRANSLATED -en nl HP:0012812 rdfs:label Fullness of paranasal tissue Volheid van paranasaal weefsel CANDIDATE -en nl HP:0012812 IAO:0000115 Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues NOT_TRANSLATED -en nl HP:0012813 rdfs:label Unilateral breast hypoplasia Unilaterale borst hypoplasie CANDIDATE -en nl HP:0012813 IAO:0000115 Underdevelopment of the breast on one side only Underdevelopment of the breast on one side only NOT_TRANSLATED -en nl HP:0012814 rdfs:label Bilateral breast hypoplasia Bilaterale borst hypoplasie CANDIDATE -en nl HP:0012814 IAO:0000115 Underdevelopment of the breast on both sides Underdevelopment of the breast on both sides NOT_TRANSLATED -en nl HP:0012815 rdfs:label Hypoplastic female external genitalia Hypoplastische vrouwelijke externe genitaliën CANDIDATE -en nl HP:0012815 IAO:0000115 Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris) Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris) NOT_TRANSLATED -en nl HP:0012816 rdfs:label Right ventricular noncompaction cardiomyopathy Rechter ventrikel non-compactie cardiomyopathie CANDIDATE -en nl HP:0012816 IAO:0000115 A predominantly right ventricular variant of isolated noncompaction cardiomyopathy A predominantly right ventricular variant of isolated noncompaction cardiomyopathy NOT_TRANSLATED -en nl HP:0012817 rdfs:label Noncompaction cardiomyopathy Non-compactie cardiomyopathie CANDIDATE -en nl HP:0012817 IAO:0000115 A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber NOT_TRANSLATED -en nl HP:0012818 rdfs:label Biventricular noncompaction cardiomyopathy Biventriculaire non-compactie cardiomyopathie CANDIDATE -en nl HP:0012818 IAO:0000115 Noncompaction cardiomyopathy that affects both ventricles Noncompaction cardiomyopathy that affects both ventricles NOT_TRANSLATED -en nl HP:0012819 rdfs:label Myocarditis Myocarditis CANDIDATE -en nl HP:0012819 IAO:0000115 Inflammation of the myocardium Inflammation of the myocardium NOT_TRANSLATED -en nl HP:0012820 rdfs:label Bilateral vocal cord paralysis Bilaterale stembandverlamming CANDIDATE -en nl HP:0012820 IAO:0000115 A loss of the ability to move the vocal fold on both sides A loss of the ability to move the vocal fold on both sides NOT_TRANSLATED -en nl HP:0012821 rdfs:label Unilateral vocal cord paresis Unilaterale stemband parese CANDIDATE -en nl HP:0012821 IAO:0000115 Decreased strength of the vocal fold on one side Decreased strength of the vocal fold on one side NOT_TRANSLATED -en nl HP:0012822 rdfs:label Bilateral vocal cord paresis Bilaterale stemband parese CANDIDATE -en nl HP:0012822 IAO:0000115 Decreased strength of the vocal fold on both sides Decreased strength of the vocal fold on both sides NOT_TRANSLATED -en nl HP:0012823 rdfs:label Clinical modifier Klinische modifier CANDIDATE -en nl HP:0012823 IAO:0000115 This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects NOT_TRANSLATED -en nl HP:0012824 rdfs:label Severity Ernst CANDIDATE -en nl HP:0012824 IAO:0000115 The intensity or degree of a manifestation The intensity or degree of a manifestation NOT_TRANSLATED -en nl HP:0012825 rdfs:label Mild Mild CANDIDATE -en nl HP:0012825 IAO:0000115 Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean NOT_TRANSLATED -en nl HP:0012826 rdfs:label Moderate Matig CANDIDATE -en nl HP:0012826 IAO:0000115 Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean NOT_TRANSLATED -en nl HP:0012827 rdfs:label Borderline Borderline CANDIDATE -en nl HP:0012827 IAO:0000115 Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean NOT_TRANSLATED -en nl HP:0012828 rdfs:label Severe Ernstig CANDIDATE -en nl HP:0012828 IAO:0000115 Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean NOT_TRANSLATED -en nl HP:0012829 rdfs:label Profound Diepgaand CANDIDATE -en nl HP:0012829 IAO:0000115 Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean NOT_TRANSLATED -en nl HP:0012830 rdfs:label Position Positie CANDIDATE -en nl HP:0012830 IAO:0000115 The anatomical localization of the specified phenotypic abnormality The anatomical localization of the specified phenotypic abnormality NOT_TRANSLATED -en nl HP:0012831 rdfs:label Laterality Lateralisatie CANDIDATE -en nl HP:0012831 IAO:0000115 The localization with respect to the side of the body of the specified phenotypic abnormality The localization with respect to the side of the body of the specified phenotypic abnormality NOT_TRANSLATED -en nl HP:0012832 rdfs:label Bilateral Bilateraal CANDIDATE -en nl HP:0012832 IAO:0000115 Being present on both sides of the body Being present on both sides of the body NOT_TRANSLATED -en nl HP:0012833 rdfs:label Unilateral Unilateraal CANDIDATE -en nl HP:0012833 IAO:0000115 Being present on only the left or only the right side of the body Being present on only the left or only the right side of the body NOT_TRANSLATED -en nl HP:0012834 rdfs:label Right Rechts CANDIDATE -en nl HP:0012834 IAO:0000115 Being located on the right side of the body Being located on the right side of the body NOT_TRANSLATED -en nl HP:0012835 rdfs:label Left Links CANDIDATE -en nl HP:0012835 IAO:0000115 Being located on the left side of the body Being located on the left side of the body NOT_TRANSLATED -en nl HP:0012836 rdfs:label Spatial pattern Spatieel patroon CANDIDATE -en nl HP:0012836 IAO:0000115 The pattern by which a phenotype affects one or more regions of the body The pattern by which a phenotype affects one or more regions of the body NOT_TRANSLATED -en nl HP:0012837 rdfs:label Generalized Gegeneraliseerd CANDIDATE -en nl HP:0012837 IAO:0000115 Affecting all regions without specificity of distribution Affecting all regions without specificity of distribution NOT_TRANSLATED -en nl HP:0012838 rdfs:label Localized Gelokaliseerd CANDIDATE -en nl HP:0012838 IAO:0000115 Being confined or restricted to a particular location Being confined or restricted to a particular location NOT_TRANSLATED -en nl HP:0012839 rdfs:label Distal Distaal CANDIDATE -en nl HP:0012839 IAO:0000115 Localized away from the central point of the body Localized away from the central point of the body NOT_TRANSLATED -en nl HP:0012840 rdfs:label Proximal Proximaal CANDIDATE -en nl HP:0012840 IAO:0000115 Localized close to the central point of the body Localized close to the central point of the body NOT_TRANSLATED -en nl HP:0012841 rdfs:label Retinal vascular tortuosity Retinale vasculaire kronkeligheid CANDIDATE -en nl HP:0012841 IAO:0000115 The presence of an increased number of twists and turns of the retinal blood vessels The presence of an increased number of twists and turns of the retinal blood vessels NOT_TRANSLATED -en nl HP:0012842 rdfs:label Skin appendage neoplasm Skin appendage neoplasm NOT_TRANSLATED -en nl HP:0012842 IAO:0000115 A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands NOT_TRANSLATED -en nl HP:0012843 rdfs:label Hair follicle neoplasm Haarfollikel neoplasma CANDIDATE -en nl HP:0012843 IAO:0000115 An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth NOT_TRANSLATED -en nl HP:0012844 rdfs:label Trichilemmoma Trichilemmoom CANDIDATE -en nl HP:0012844 IAO:0000115 A benign tumour originating from the outer root sheath of the hair follicle A benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED -en nl HP:0012845 rdfs:label Single trichilemmoma Enkel trichilemmoom CANDIDATE -en nl HP:0012845 IAO:0000115 Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED -en nl HP:0012846 rdfs:label Multiple trichilemmomata Multipele trichilemmomen CANDIDATE -en nl HP:0012846 IAO:0000115 Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED -en nl HP:0012847 rdfs:label Epilepsia partialis continua Epilepsia partialis continua CANDIDATE -en nl HP:0012847 IAO:0000115 Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years) Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years) NOT_TRANSLATED -en nl HP:0012848 rdfs:label Small intestinal stenosis Dunne darm stenose CANDIDATE -en nl HP:0012848 IAO:0000115 The narrowing or partial blockage of a portion of the small intestine The narrowing or partial blockage of a portion of the small intestine NOT_TRANSLATED -en nl HP:0012849 rdfs:label Small intestinal bleeding Dunne darm bloeding CANDIDATE -en nl HP:0012849 IAO:0000115 Bleeding from the small intestine Bleeding from the small intestine NOT_TRANSLATED -en nl HP:0012850 rdfs:label Small intestinal dysmotility Dunne darm dysmotiliteit CANDIDATE -en nl HP:0012850 IAO:0000115 Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes NOT_TRANSLATED -en nl HP:0012851 rdfs:label Colonic stenosis Colonstenose CANDIDATE -en nl HP:0012851 IAO:0000115 A narrowing of a segment of colon whereby bowel continuity is maintained A narrowing of a segment of colon whereby bowel continuity is maintained NOT_TRANSLATED -en nl HP:0012852 rdfs:label Hepatic bridging fibrosis Hepatic bridging fibrosis NOT_TRANSLATED -en nl HP:0012852 IAO:0000115 Hepatic fibrosis that reaches from a portal area to another portal area Hepatic fibrosis that reaches from a portal area to another portal area NOT_TRANSLATED -en nl HP:0012853 rdfs:label Scrotal hypospadias Scrotale hypospadieën CANDIDATE -en nl HP:0012853 IAO:0000115 Hypospadias with location of the urethral meatus in the scrotum Hypospadias with location of the urethral meatus in the scrotum NOT_TRANSLATED -en nl HP:0012854 rdfs:label Midshaft hypospadias Midshaft hypospadie CANDIDATE -en nl HP:0012854 IAO:0000115 Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis NOT_TRANSLATED -en nl HP:0012855 rdfs:label Scrotal hyperpigmentation Scrotale hyperpigmentatie CANDIDATE -en nl HP:0012855 IAO:0000115 Increased pigmentation (skin color) of the scrotum Increased pigmentation (skin color) of the scrotum NOT_TRANSLATED -en nl HP:0012856 rdfs:label Abnormal scrotal rugation Abnormal scrotal rugation NOT_TRANSLATED -en nl HP:0012856 IAO:0000115 Anomaly of the folded ridges (wrinkles) of skin of the scrotum Anomaly of the folded ridges (wrinkles) of skin of the scrotum NOT_TRANSLATED -en nl HP:0012857 rdfs:label Increased scrotal rugation Increased scrotal rugation NOT_TRANSLATED -en nl HP:0012857 IAO:0000115 Increased number or density of the folded ridges (wrinkles) of skin of the scrotum Increased number or density of the folded ridges (wrinkles) of skin of the scrotum NOT_TRANSLATED -en nl HP:0012858 rdfs:label Decreased scrotal rugation Decreased scrotal rugation NOT_TRANSLATED -en nl HP:0012858 IAO:0000115 Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum NOT_TRANSLATED -en nl HP:0012859 rdfs:label Esophageal leukoplakia Oesofageale leukoplakie CANDIDATE -en nl HP:0012859 IAO:0000115 A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease NOT_TRANSLATED -en nl HP:0012860 rdfs:label Testicular fibrosis Testiculaire fibrose CANDIDATE -en nl HP:0012860 IAO:0000115 Formation of excess connective tissue in the testicle Formation of excess connective tissue in the testicle NOT_TRANSLATED -en nl HP:0012861 rdfs:label Ovotestis Ovotestis CANDIDATE -en nl HP:0012861 IAO:0000115 A gonad that contains both ovarian follicles and testicular tubular elements A gonad that contains both ovarian follicles and testicular tubular elements NOT_TRANSLATED -en nl HP:0012862 rdfs:label Abnormal germ cell morphology Afwijkende kiemcel morfologie CANDIDATE -en nl HP:0012862 IAO:0000115 Any structural anomaly of a reproductive cell Any structural anomaly of a reproductive cell NOT_TRANSLATED -en nl HP:0012863 rdfs:label Abnormal male germ cell morphology Afwijkende mannelijke kiemcel morfologie CANDIDATE -en nl HP:0012863 IAO:0000115 A structural anomaly of a male reproductive cell A structural anomaly of a male reproductive cell NOT_TRANSLATED -en nl HP:0012864 rdfs:label Abnormal sperm morphology Afwijkende sperma morfologie CANDIDATE -en nl HP:0012864 IAO:0000115 A structural anomaly of sperm A structural anomaly of sperm NOT_TRANSLATED -en nl HP:0012865 rdfs:label Abnormal sperm head morphology Abnormal sperm head morphology NOT_TRANSLATED -en nl HP:0012865 IAO:0000115 A structural abnormality of the sperm head A structural abnormality of the sperm head NOT_TRANSLATED -en nl HP:0012866 rdfs:label Abnormal sperm neck morphology Abnormal sperm neck morphology NOT_TRANSLATED -en nl HP:0012866 IAO:0000115 A structural abnormality of the sperm neck A structural abnormality of the sperm neck NOT_TRANSLATED -en nl HP:0012867 rdfs:label Abnormal sperm mid-piece morphology Abnormal sperm mid-piece morphology NOT_TRANSLATED -en nl HP:0012867 IAO:0000115 A structural abnormality of the sperm mid-piece A structural abnormality of the sperm mid-piece NOT_TRANSLATED -en nl HP:0012868 rdfs:label Abnormal sperm tail morphology Spermastaart afwijking CANDIDATE -en nl HP:0012868 IAO:0000115 A structural abnormality of the sperm tail A structural abnormality of the sperm tail NOT_TRANSLATED -en nl HP:0012869 rdfs:label Acephalic spermatozoa Acephalische spermatozoa CANDIDATE -en nl HP:0012869 IAO:0000115 Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head NOT_TRANSLATED -en nl HP:0012870 rdfs:label Vanishing testis Vanishing testis CANDIDATE -en nl HP:0012870 IAO:0000115 A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction NOT_TRANSLATED -en nl HP:0012871 rdfs:label Varicocele Varicocele CANDIDATE -en nl HP:0012871 IAO:0000115 A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum NOT_TRANSLATED -en nl HP:0012872 rdfs:label Abnormal vas deferens morphology Afwijkende vas deferens morfologie CANDIDATE -en nl HP:0012872 IAO:0000115 A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct NOT_TRANSLATED -en nl HP:0012873 rdfs:label Absent vas deferens Afwezige vas deferens CANDIDATE -en nl HP:0012873 IAO:0000115 Aplasia (congenital absence) of the vas deferens Aplasia (congenital absence) of the vas deferens NOT_TRANSLATED -en nl HP:0012874 rdfs:label Abnormal male reproductive system physiology Afwijking van mannelijk reproductieve systeem fysiologie CANDIDATE -en nl HP:0012874 IAO:0000115 An abnormal functionality of the male genital system An abnormal functionality of the male genital system NOT_TRANSLATED -en nl HP:0012875 rdfs:label Abnormal ejaculation Afwijkende ejaculatie CANDIDATE -en nl HP:0012875 IAO:0000115 Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract NOT_TRANSLATED -en nl HP:0012876 rdfs:label Premature ejaculation Premature ejaculatie CANDIDATE -en nl HP:0012876 IAO:0000115 The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration NOT_TRANSLATED -en nl HP:0012877 rdfs:label Retrograde ejaculation Retrograde ejaculatie CANDIDATE -en nl HP:0012877 IAO:0000115 The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm NOT_TRANSLATED -en nl HP:0012878 rdfs:label Retarded ejaculation Ejaculatio tarda CANDIDATE -en nl HP:0012878 IAO:0000115 Difficulty of a male in achieving orgasm Difficulty of a male in achieving orgasm NOT_TRANSLATED -en nl HP:0012879 rdfs:label Anejaculation Anejaculatie CANDIDATE -en nl HP:0012879 IAO:0000115 Inability to ejaculate Inability to ejaculate NOT_TRANSLATED -en nl HP:0012880 rdfs:label Abnormal labia minora morphology Afwijking van de labia minora CANDIDATE -en nl HP:0012880 IAO:0000115 An anomaly of the labia minora, the folds of skin between the outer labia An anomaly of the labia minora, the folds of skin between the outer labia NOT_TRANSLATED -en nl HP:0012881 rdfs:label Abnormal labia majora morphology Afwijking van de labia majora CANDIDATE -en nl HP:0012881 IAO:0000115 An anomaly of the outer labia An anomaly of the outer labia NOT_TRANSLATED -en nl HP:0012882 rdfs:label Hyperplastic labia majora Hyperplastische labia majora CANDIDATE -en nl HP:0012882 IAO:0000115 Overgrowth of the outer labia Overgrowth of the outer labia NOT_TRANSLATED -en nl HP:0012883 rdfs:label Fallopian tube cyst Tuba cyste CANDIDATE -en nl HP:0012883 IAO:0000115 A fluid filled sac located in the Fallopian tube A fluid filled sac located in the Fallopian tube NOT_TRANSLATED -en nl HP:0012884 rdfs:label Fallopian tube torsion Tuba torsie CANDIDATE -en nl HP:0012884 IAO:0000115 A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation NOT_TRANSLATED -en nl HP:0012885 rdfs:label Fallopian tube duplication Tuba duplicatie CANDIDATE -en nl HP:0012885 IAO:0000115 The presence of a supernumerary Fallopian tube The presence of a supernumerary Fallopian tube NOT_TRANSLATED -en nl HP:0012886 rdfs:label Hemorrhagic ovarian cyst Hemorragische ovariumcyste CANDIDATE -en nl HP:0012886 IAO:0000115 An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst NOT_TRANSLATED -en nl HP:0012887 rdfs:label Ovarian serous cystadenoma Ovarieel sereus cystadenoom CANDIDATE -en nl HP:0012887 IAO:0000115 A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue NOT_TRANSLATED -en nl HP:0012888 rdfs:label Abnormal uterine cervix morphology Afwijking van de uteriene cervix CANDIDATE -en nl HP:0012888 IAO:0000115 An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix NOT_TRANSLATED -en nl HP:0012889 rdfs:label Cervical endometriosis Cervicale endometriose CANDIDATE -en nl HP:0012889 IAO:0000115 Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix NOT_TRANSLATED -en nl HP:0012890 rdfs:label Posteriorly placed anus Posterieur geplaatste anus CANDIDATE -en nl HP:0012890 IAO:0000115 Posterior malposition of the anus Posterior malposition of the anus NOT_TRANSLATED -en nl HP:0012891 rdfs:label High posterior hairline Hoge achterste haarlijn CANDIDATE -en nl HP:0012891 IAO:0000115 Hair on the neck extends less inferiorly than usual Hair on the neck extends less inferiorly than usual NOT_TRANSLATED -en nl HP:0012892 rdfs:label Facial muscle hypertrophy Faciale spier hypertrofie CANDIDATE -en nl HP:0012892 IAO:0000115 Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve) Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED -en nl HP:0012893 rdfs:label Neck muscle hypertrophy Nekspier hypertrofie CANDIDATE -en nl HP:0012893 IAO:0000115 Muscle hypertrophy affecting the muscles of the neck Muscle hypertrophy affecting the muscles of the neck NOT_TRANSLATED -en nl HP:0012894 rdfs:label Paraspinal muscle hypertrophy Paraspinale spier hypertrofie CANDIDATE -en nl HP:0012894 IAO:0000115 Muscle hypertrophy affecting the paraspinal muscles Muscle hypertrophy affecting the paraspinal muscles NOT_TRANSLATED -en nl HP:0012895 rdfs:label Scapular muscle hypertrophy Scapulaire spier Hypertrofie CANDIDATE -en nl HP:0012895 IAO:0000115 Muscle hypertrophy affecting the scapular muscles Muscle hypertrophy affecting the scapular muscles NOT_TRANSLATED -en nl HP:0012896 rdfs:label Abnormal motor evoked potentials Afwijking van motorisch opgewekte potentialen CANDIDATE -en nl HP:0012896 IAO:0000115 An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways NOT_TRANSLATED -en nl HP:0012897 rdfs:label Abnormal upper-limb motor evoked potentials Afwijking van bovenste extremiteit motorisch opgewekte potentialen CANDIDATE -en nl HP:0012897 IAO:0000115 An anomaly identified by motor evoked potentials (MEPs) in the arm An anomaly identified by motor evoked potentials (MEPs) in the arm NOT_TRANSLATED -en nl HP:0012898 rdfs:label Abnormal lower-limb motor evoked potentials Afwijking van onderste extremiteit motorisch opgewekte potentialen CANDIDATE -en nl HP:0012898 IAO:0000115 An anomaly identified by motor evoked potentials (MEPs) in the leg An anomaly identified by motor evoked potentials (MEPs) in the leg NOT_TRANSLATED -en nl HP:0012899 rdfs:label Handgrip myotonia Handgreep myotonie CANDIDATE -en nl HP:0012899 IAO:0000115 Difficulty releasing one's grip associated with prolonged first handgrip relaxation times Difficulty releasing one's grip associated with prolonged first handgrip relaxation times NOT_TRANSLATED -en nl HP:0012900 rdfs:label Myotonia of the face Myotonie van het gezicht CANDIDATE -en nl HP:0012900 IAO:0000115 Slowed relaxation of muscles in the face Slowed relaxation of muscles in the face NOT_TRANSLATED -en nl HP:0012901 rdfs:label Myotonia of the jaw Myotonie van de kaak CANDIDATE -en nl HP:0012901 IAO:0000115 Slowed relaxation of muscles in the jaw Slowed relaxation of muscles in the jaw NOT_TRANSLATED -en nl HP:0012902 rdfs:label Myotonia of the lower limb Myotonie van de onderste extremiteit CANDIDATE -en nl HP:0012902 IAO:0000115 Slowed relaxation of muscles in the leg Slowed relaxation of muscles in the leg NOT_TRANSLATED -en nl HP:0012903 rdfs:label Myotonia of the upper limb Myotonie van de bovenste extremiteit CANDIDATE -en nl HP:0012903 IAO:0000115 Slowed relaxation of muscles in the arm Slowed relaxation of muscles in the arm NOT_TRANSLATED -en nl HP:0012904 rdfs:label Cold-sensitive myotonia Koud-gevoelige myotonie CANDIDATE -en nl HP:0012904 IAO:0000115 An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold NOT_TRANSLATED -en nl HP:0012905 rdfs:label Euryblepharon Euryblepharon CANDIDATE -en nl HP:0012905 IAO:0000115 Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening NOT_TRANSLATED -en nl HP:0046502 rdfs:label Anorgasmia Anorgasmia NOT_TRANSLATED -en nl HP:0046502 IAO:0000115 Inability of individual to reach orgasm Inability of individual to reach orgasm NOT_TRANSLATED -en nl HP:0046503 rdfs:label Increased libido Increased libido NOT_TRANSLATED -en nl HP:0046503 IAO:0000115 Elevated sexual desire Elevated sexual desire NOT_TRANSLATED -en nl HP:0046504 rdfs:label Decreased libido Decreased libido NOT_TRANSLATED -en nl HP:0046504 IAO:0000115 Decreased sexual desire Decreased sexual desire NOT_TRANSLATED -en nl HP:0046505 rdfs:label Hand pain Hand pain NOT_TRANSLATED -en nl HP:0046505 IAO:0000115 An unpleasant sensation characterized by physical discomfort localized to the hand An unpleasant sensation characterized by physical discomfort localized to the hand NOT_TRANSLATED -en nl HP:0046506 rdfs:label Pain in head and neck region Pain in head and neck region NOT_TRANSLATED -en nl HP:0046507 rdfs:label Bradypnea Bradypnea NOT_TRANSLATED -en nl HP:0046507 IAO:0000115 Bradypnea is referring to breathing that is abnormally slow Bradypnea is referring to breathing that is abnormally slow NOT_TRANSLATED -en nl HP:0046508 rdfs:label Abnormal cervical spine morphology Abnormal cervical spine morphology NOT_TRANSLATED -en nl HP:0046508 IAO:0000115 Any morphological abnormality of the cervical vertebral column Any morphological abnormality of the cervical vertebral column NOT_TRANSLATED -en nl HP:0410006 rdfs:label Abnormality of ophthalmic artery Afwijking van de arteria ophthalmica CANDIDATE -en nl HP:0410006 IAO:0000115 Abnormality of the first branch of the internal carotid artery Abnormality of the first branch of the internal carotid artery NOT_TRANSLATED -en nl HP:0410005 rdfs:label Cleft hard palate Gespleten hard palatum CANDIDATE -en nl HP:0410003 rdfs:label Cleft maxillary alveolus Gespleten primair palatum CANDIDATE -en nl HP:0410003 IAO:0000115 Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine NOT_TRANSLATED -en nl HP:0410000 rdfs:label Abnormal vomer morphology Afwijking van vomer CANDIDATE -en nl HP:0410000 IAO:0000115 An abnormality of the vomer An abnormality of the vomer NOT_TRANSLATED -en nl HP:0410014 rdfs:label Abnormal ganglion morphology Afwijking van ganglion CANDIDATE -en nl HP:0410014 IAO:0000115 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system NOT_TRANSLATED -en nl HP:0410015 rdfs:label Abnormal peripheral nervous system ganglion morphology Afwijking van ganglion van perifeer zenuwstelsel CANDIDATE -en nl HP:0410015 IAO:0000115 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system NOT_TRANSLATED -en nl HP:0410012 rdfs:label Abnormal mouth floor morphology Afwijking van de mondvloer CANDIDATE -en nl HP:0410012 IAO:0000115 Any abnormality of the mouth floor Any abnormality of the mouth floor NOT_TRANSLATED -en nl HP:0410013 rdfs:label Abnormality of the submandibular region Afwijking van de submandibulaire regio CANDIDATE -en nl HP:0410013 IAO:0000115 Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery NOT_TRANSLATED -en nl HP:0410010 rdfs:label Abnormality of somatic nerve plexus Afwijking van de somatische zenuw plexus CANDIDATE -en nl HP:0410010 IAO:0000115 Any abnormality of the somatic nerve plexus Any abnormality of the somatic nerve plexus NOT_TRANSLATED -en nl HP:0410011 rdfs:label Abnormality of masticatory muscle Afwijking van kauwspier CANDIDATE -en nl HP:0410011 IAO:0000115 Any abnormality of the masticatory muscle Any abnormality of the masticatory muscle NOT_TRANSLATED -en nl HP:0410008 rdfs:label Abnormality of the peripheral nervous system Afwijking van het perifere zenuwstelsel CANDIDATE -en nl HP:0410008 IAO:0000115 Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord NOT_TRANSLATED -en nl HP:0410009 rdfs:label Abnormality of the somatic nervous system Afwijking van het somatische zenuwstelsel CANDIDATE -en nl HP:0410009 IAO:0000115 Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements NOT_TRANSLATED -en nl HP:0410022 rdfs:label Vaginal fish odor Vaginale visgeur CANDIDATE -en nl HP:0410022 IAO:0000115 A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA) A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA) NOT_TRANSLATED -en nl HP:0410023 rdfs:label Abnormal distribution of cell junction proteins in buccal mucosal cells Abnormal distribution of cell junction proteins in buccal mucosal cells NOT_TRANSLATED -en nl HP:0410023 IAO:0000115 An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43 An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43 NOT_TRANSLATED -en nl HP:0410020 rdfs:label Fish odor Visgeur CANDIDATE -en nl HP:0410020 IAO:0000115 Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals NOT_TRANSLATED -en nl HP:0410021 rdfs:label Musty odor Muffe geur CANDIDATE -en nl HP:0410021 IAO:0000115 Pungent body odor Pungent body odor NOT_TRANSLATED -en nl HP:0410018 rdfs:label Recurrent ear infections Recidiverende oorontstekingen CANDIDATE -en nl HP:0410018 IAO:0000115 Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections NOT_TRANSLATED -en nl HP:0410019 rdfs:label Epigastric pain Epigastrische pijn CANDIDATE -en nl HP:0410019 IAO:0000115 Pain that is localized to the region of the upper abdomen immediately below the ribs Pain that is localized to the region of the upper abdomen immediately below the ribs NOT_TRANSLATED -en nl HP:0410016 rdfs:label Abnormal cranial ganglion morphology Afwijking van craniaal ganglion CANDIDATE -en nl HP:0410016 IAO:0000115 An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium NOT_TRANSLATED -en nl HP:0410017 rdfs:label Otitis externa Otitis externa CANDIDATE -en nl HP:0410017 IAO:0000115 Inflammation or infection of the external auditory canal (EAC), the auricle, or both Inflammation or infection of the external auditory canal (EAC), the auricle, or both NOT_TRANSLATED -en nl HP:0410030 rdfs:label Cleft lip Gespleten lip CANDIDATE -en nl HP:0410030 IAO:0000115 A gap in the lip or lips A gap in the lip or lips NOT_TRANSLATED -en nl HP:0410031 rdfs:label Submucous cleft of soft and hard palate Submuceuze schisis van zachte en harde verhemelte CANDIDATE -en nl HP:0410031 IAO:0000115 Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth NOT_TRANSLATED -en nl HP:0410028 rdfs:label Recurrent oral herpes Orale herpes CANDIDATE -en nl HP:0410028 IAO:0000115 Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus NOT_TRANSLATED -en nl HP:0410026 rdfs:label Abnormal periodontium morphology Afwijking van het periodontium CANDIDATE -en nl HP:0410026 IAO:0000115 Any abnormality of the periodontium Any abnormality of the periodontium NOT_TRANSLATED -en nl HP:0410027 rdfs:label Alveolar bone loss around teeth Alveolair botverlies rond tanden CANDIDATE -en nl HP:0410027 IAO:0000115 A decrease in the amount of alveolar bone around the root of a tooth A decrease in the amount of alveolar bone around the root of a tooth NOT_TRANSLATED -en nl HP:0410034 rdfs:label Bilateral alveolar cleft of maxilla Bilaterale alveolaire schisis van maxilla CANDIDATE -en nl HP:0410034 IAO:0000115 Nonmidline alveolar cleft of the maxilla Nonmidline alveolar cleft of the maxilla NOT_TRANSLATED -en nl HP:0410035 rdfs:label Abnormal T cell activation Abnormale T-cel activatie CANDIDATE -en nl HP:0410035 IAO:0000115 Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific NOT_TRANSLATED -en nl HP:0410033 rdfs:label Unilateral alveolar cleft of maxilla Unilaterale alveolaire schisis van maxilla CANDIDATE -en nl HP:0410033 IAO:0000115 One sided alveolar cleft of the maxilla One sided alveolar cleft of the maxilla NOT_TRANSLATED -en nl HP:0410042 rdfs:label Abnormal liver morphology Afwijkende lever morfologie CANDIDATE -en nl HP:0410042 IAO:0000115 Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage NOT_TRANSLATED -en nl HP:0410043 rdfs:label Abnormal neural tube morphology Afwijkende neurale buis morfologie CANDIDATE -en nl HP:0410043 IAO:0000115 Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) NOT_TRANSLATED -en nl HP:0410054 rdfs:label Decreased circulating GABA concentration Decreased circulating GABA concentration NOT_TRANSLATED -en nl HP:0410054 IAO:0000115 A decrease in the level of GABA in the serum A decrease in the level of GABA in the serum NOT_TRANSLATED -en nl HP:0410055 rdfs:label Decreased level of erythritol in urine Decreased level of erythritol in urine NOT_TRANSLATED -en nl HP:0410055 IAO:0000115 A decrease in the level of erythritol in the urine A decrease in the level of erythritol in the urine NOT_TRANSLATED -en nl HP:0410052 rdfs:label Increased level of allantoin in serum Increased level of allantoin in serum NOT_TRANSLATED -en nl HP:0410052 IAO:0000115 An increase in the level of allantoin in the serum An increase in the level of allantoin in the serum NOT_TRANSLATED -en nl HP:0410053 rdfs:label Elevated circulating gamma-aminobutyric acid concentration Elevated circulating gamma-aminobutyric acid concentration NOT_TRANSLATED -en nl HP:0410053 IAO:0000115 An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation NOT_TRANSLATED -en nl HP:0410050 rdfs:label Decreased level of 1,5 anhydroglucitol in serum Decreased level of 1,5 anhydroglucitol in serum NOT_TRANSLATED -en nl HP:0410050 IAO:0000115 A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues NOT_TRANSLATED -en nl HP:0410051 rdfs:label Increased level of 3-hydroxy-3-methylglutaric acid in urine Increased level of 3-hydroxy-3-methylglutaric acid in urine NOT_TRANSLATED -en nl HP:0410051 IAO:0000115 An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine NOT_TRANSLATED -en nl HP:0410049 rdfs:label Abnormal radial ray morphology Abnormal radial ray morphology NOT_TRANSLATED -en nl HP:0410062 rdfs:label Increased level of galactitol in urine Increased level of galactitol in urine NOT_TRANSLATED -en nl HP:0410062 IAO:0000115 An increase in the level of galactitol in the urine An increase in the level of galactitol in the urine NOT_TRANSLATED -en nl HP:0410063 rdfs:label Increased level of galactonate in red blood cells Increased level of galactonate in red blood cells NOT_TRANSLATED -en nl HP:0410063 IAO:0000115 An increase in the level of galactonate in the red blood cells An increase in the level of galactonate in the red blood cells NOT_TRANSLATED -en nl HP:0410060 rdfs:label Decreased level of D-mannose in urine Decreased level of D-mannose in urine NOT_TRANSLATED -en nl HP:0410060 IAO:0000115 A decrease in the level of D-mannose in the urine A decrease in the level of D-mannose in the urine NOT_TRANSLATED -en nl HP:0410061 rdfs:label Increased level of galactitol in plasma Increased level of galactitol in plasma NOT_TRANSLATED -en nl HP:0410061 IAO:0000115 An increase in the level of galactitol in the plasma An increase in the level of galactitol in the plasma NOT_TRANSLATED -en nl HP:0410058 rdfs:label Increased level of D-threitol in CSF Increased level of D-threitol in CSF NOT_TRANSLATED -en nl HP:0410058 IAO:0000115 An increase in the level of D-threitol in the cerebrospinal fluid An increase in the level of D-threitol in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410059 rdfs:label Increased level of D-threitol in urine Increased level of D-threitol in urine NOT_TRANSLATED -en nl HP:0410059 IAO:0000115 An increase in the level of D-threitol in the urine An increase in the level of D-threitol in the urine NOT_TRANSLATED -en nl HP:0410056 rdfs:label Decreased CSF erythritol concentration Decreased CSF erythritol concentration NOT_TRANSLATED -en nl HP:0410056 IAO:0000115 A decrease in the level of erythritol in the cerebrospinal fluid A decrease in the level of erythritol in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410057 rdfs:label Increased level of D-threitol in plasma Increased level of D-threitol in plasma NOT_TRANSLATED -en nl HP:0410057 IAO:0000115 An increase in the level of D-threitol in the plasma An increase in the level of D-threitol in the plasma NOT_TRANSLATED -en nl HP:0410070 rdfs:label Increased level of ribitol in urine Increased level of ribitol in urine NOT_TRANSLATED -en nl HP:0410070 IAO:0000115 An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose NOT_TRANSLATED -en nl HP:0410071 rdfs:label Increased level of ribitol in CSF Increased level of ribitol in CSF NOT_TRANSLATED -en nl HP:0410071 IAO:0000115 An increase in the level of ribitol in the cerebral spinal fluid An increase in the level of ribitol in the cerebral spinal fluid NOT_TRANSLATED -en nl HP:0410068 rdfs:label Increased level of L-glutamic acid in blood Increased level of L-glutamic acid in blood NOT_TRANSLATED -en nl HP:0410068 IAO:0000115 An increase in the level of L-glutamic acid in the blood An increase in the level of L-glutamic acid in the blood NOT_TRANSLATED -en nl HP:0410069 rdfs:label Increased level of propylene glycol in blood Increased level of propylene glycol in blood NOT_TRANSLATED -en nl HP:0410069 IAO:0000115 An increase in the level of propylene glycol in the blood An increase in the level of propylene glycol in the blood NOT_TRANSLATED -en nl HP:0410066 rdfs:label Increased level of hippuric acid in urine Increased level of hippuric acid in urine NOT_TRANSLATED -en nl HP:0410066 IAO:0000115 An increase in the level of hippuric acid in the urine An increase in the level of hippuric acid in the urine NOT_TRANSLATED -en nl HP:0410067 rdfs:label Increased level of L-fucose in urine Increased level of L-fucose in urine NOT_TRANSLATED -en nl HP:0410067 IAO:0000115 An increase in the level of L-fucose in the urine An increase in the level of L-fucose in the urine NOT_TRANSLATED -en nl HP:0410064 rdfs:label Increased level of galactitol in red blood cells Increased level of galactitol in red blood cells NOT_TRANSLATED -en nl HP:0410064 IAO:0000115 An increase in the level of galactitol in the red blood cells An increase in the level of galactitol in the red blood cells NOT_TRANSLATED -en nl HP:0410065 rdfs:label Increased level of hippuric acid in blood Increased level of hippuric acid in blood NOT_TRANSLATED -en nl HP:0410065 IAO:0000115 An increase in the level of hippuric acid in the blood An increase in the level of hippuric acid in the blood NOT_TRANSLATED -en nl HP:0410074 rdfs:label Increased level of xylitol in urine Increased level of xylitol in urine NOT_TRANSLATED -en nl HP:0410074 IAO:0000115 An increase in the level of xylitol in the urine An increase in the level of xylitol in the urine NOT_TRANSLATED -en nl HP:0410075 rdfs:label Increased level of xylitol in CSF Increased level of xylitol in CSF NOT_TRANSLATED -en nl HP:0410075 IAO:0000115 An increase in the level of xylitol in the cerebrospinal fluid An increase in the level of xylitol in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410072 rdfs:label Increased level of ribose in urine Increased level of ribose in urine NOT_TRANSLATED -en nl HP:0410072 IAO:0000115 An increase in the level of ribose in the urine An increase in the level of ribose in the urine NOT_TRANSLATED -en nl HP:0410073 rdfs:label Increased level of ribose in CSF Increased level of ribose in CSF NOT_TRANSLATED -en nl HP:0410073 IAO:0000115 An increase in the level of ribose in the cerebrospinal fluid An increase in the level of ribose in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410134 rdfs:label Physical urticaria Physical urticaria NOT_TRANSLATED -en nl HP:0410134 IAO:0000115 Urticaria caused by physical agents, such as heat, cold, light, friction Urticaria caused by physical agents, such as heat, cold, light, friction NOT_TRANSLATED -en nl HP:0410135 rdfs:label Cold urticaria Cold urticaria NOT_TRANSLATED -en nl HP:0410135 IAO:0000115 Urticaria may be caused by cold temperatures Urticaria may be caused by cold temperatures NOT_TRANSLATED -en nl HP:0410132 rdfs:label Increased level of L-pyroglutamic acid in urine Increased level of L-pyroglutamic acid in urine NOT_TRANSLATED -en nl HP:0410132 IAO:0000115 An increase in the level of L-pyroglutamic acid in the urine An increase in the level of L-pyroglutamic acid in the urine NOT_TRANSLATED -en nl HP:0410133 rdfs:label Chronic idiopathic urticaria Chronic idiopathic urticaria NOT_TRANSLATED -en nl HP:0410133 IAO:0000115 Urticaria characterized by spontaneously recurring hives for 6 weeks or longer Urticaria characterized by spontaneously recurring hives for 6 weeks or longer NOT_TRANSLATED -en nl HP:0410138 rdfs:label Vibratory urticaria Vibratory urticaria NOT_TRANSLATED -en nl HP:0410138 IAO:0000115 Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum NOT_TRANSLATED -en nl HP:0410139 rdfs:label Exercise induced anaphylaxis Exercise induced anaphylaxis NOT_TRANSLATED -en nl HP:0410139 IAO:0000115 Anaphylaxis after physical activity Anaphylaxis after physical activity NOT_TRANSLATED -en nl HP:0410136 rdfs:label Aquagenic urticaria Aquagenic urticaria NOT_TRANSLATED -en nl HP:0410136 IAO:0000115 A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin NOT_TRANSLATED -en nl HP:0410137 rdfs:label Solar urticaria Solar urticaria NOT_TRANSLATED -en nl HP:0410137 IAO:0000115 Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light NOT_TRANSLATED -en nl HP:0410151 rdfs:label Eosinophilic infiltration of the esophagus Eosinophilic infiltration of the esophagus NOT_TRANSLATED -en nl HP:0410151 IAO:0000115 Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus NOT_TRANSLATED -en nl HP:0410148 rdfs:label Idiopathic anaphylaxis Idiopathic anaphylaxis NOT_TRANSLATED -en nl HP:0410148 IAO:0000115 A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment NOT_TRANSLATED -en nl HP:0410149 rdfs:label Drug-induced anaphylaxis Drug-induced anaphylaxis NOT_TRANSLATED -en nl HP:0410149 IAO:0000115 A form of anaphylaxis that is triggered by intake of drugs or medications A form of anaphylaxis that is triggered by intake of drugs or medications NOT_TRANSLATED -en nl HP:0410146 rdfs:label Increased biotinidase level Increased biotinidase level NOT_TRANSLATED -en nl HP:0410146 IAO:0000115 An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation NOT_TRANSLATED -en nl HP:0410147 rdfs:label Eosinophilic infiltration in the stomach mucosa Eosinophilic infiltration in the stomach mucosa NOT_TRANSLATED -en nl HP:0410147 IAO:0000115 Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia NOT_TRANSLATED -en nl HP:0410144 rdfs:label Abnormal biotinidase level Abnormal biotinidase level NOT_TRANSLATED -en nl HP:0410144 IAO:0000115 An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation NOT_TRANSLATED -en nl HP:0410145 rdfs:label Decreased biotinidase level Decreased biotinidase level NOT_TRANSLATED -en nl HP:0410145 IAO:0000115 A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation NOT_TRANSLATED -en nl HP:0410156 rdfs:label Increased level of N-acetylneuraminic acid in urine Increased level of N-acetylneuraminic acid in urine NOT_TRANSLATED -en nl HP:0410156 IAO:0000115 An increase in the level of N-acetylneuraminic acid in the urine An increase in the level of N-acetylneuraminic acid in the urine NOT_TRANSLATED -en nl HP:0410157 rdfs:label Increased level of N-acetylneuraminic acid in fibroblasts Increased level of N-acetylneuraminic acid in fibroblasts NOT_TRANSLATED -en nl HP:0410157 IAO:0000115 An increase in the level of N-acetylneuraminic acid in cultured fibroblasts An increase in the level of N-acetylneuraminic acid in cultured fibroblasts NOT_TRANSLATED -en nl HP:0410154 rdfs:label Increased level of myristic acid in serum Increased level of myristic acid in serum NOT_TRANSLATED -en nl HP:0410154 IAO:0000115 An increase in the level of myristic acid in the serum An increase in the level of myristic acid in the serum NOT_TRANSLATED -en nl HP:0410152 rdfs:label Eosinophilic microabscess formation in the esophagus Eosinophilic microabscess formation in the esophagus NOT_TRANSLATED -en nl HP:0410152 IAO:0000115 The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques NOT_TRANSLATED -en nl HP:0410153 rdfs:label Increased level of methylsuccinic acid in urine Increased level of methylsuccinic acid in urine NOT_TRANSLATED -en nl HP:0410153 IAO:0000115 An increase in the level of methylsuccinic acid in the urine An increase in the level of methylsuccinic acid in the urine NOT_TRANSLATED -en nl HP:0410166 rdfs:label Defective interstrand cross-link repair Defective interstrand cross-link repair NOT_TRANSLATED -en nl HP:0410166 IAO:0000115 A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication NOT_TRANSLATED -en nl HP:0410167 rdfs:label Abnormal morphology of the chest musculature Abnormal morphology of the chest musculature NOT_TRANSLATED -en nl HP:0410167 IAO:0000115 Any abnormality of the chest muscles Any abnormality of the chest muscles NOT_TRANSLATED -en nl HP:0410174 rdfs:label Increased circulating troponin T concentration Increased circulating troponin T concentration NOT_TRANSLATED -en nl HP:0410174 IAO:0000115 An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction NOT_TRANSLATED -en nl HP:0410175 rdfs:label Hyperketonemia Hyperketonemia NOT_TRANSLATED -en nl HP:0410175 IAO:0000115 An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood NOT_TRANSLATED -en nl HP:0410172 rdfs:label Blood xenobiotic Blood xenobiotic NOT_TRANSLATED -en nl HP:0410172 IAO:0000115 The presence of a xenobiotic in blood The presence of a xenobiotic in blood NOT_TRANSLATED -en nl HP:0410173 rdfs:label Increased circulating troponin I concentration Increased circulating troponin I concentration NOT_TRANSLATED -en nl HP:0410173 IAO:0000115 An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction NOT_TRANSLATED -en nl HP:0410170 rdfs:label Hippocampal atrophy Hippocampal atrophy NOT_TRANSLATED -en nl HP:0410170 IAO:0000115 Partial or complete wasting (loss) of hippocampus tissue that was once present Partial or complete wasting (loss) of hippocampus tissue that was once present NOT_TRANSLATED -en nl HP:0410171 rdfs:label Increased cotinine level Increased cotinine level NOT_TRANSLATED -en nl HP:0410171 IAO:0000115 Increased concentration of cotinine in urine Increased concentration of cotinine in urine NOT_TRANSLATED -en nl HP:0410168 rdfs:label Abnormality of the back musculature Abnormality of the back musculature NOT_TRANSLATED -en nl HP:0410168 IAO:0000115 Any abnormality of the back muscles Any abnormality of the back muscles NOT_TRANSLATED -en nl HP:0410169 rdfs:label Abnormal morphology of the shoulder musculature Abnormal morphology of the shoulder musculature NOT_TRANSLATED -en nl HP:0410169 IAO:0000115 Any abnormality of the shoulder muscles Any abnormality of the shoulder muscles NOT_TRANSLATED -en nl HP:0410182 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in dried blood spot Decreased glucose-6-phosphate dehydrogenase level in dried blood spot NOT_TRANSLATED -en nl HP:0410182 IAO:0000115 A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot NOT_TRANSLATED -en nl HP:0410183 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level in leukocytes Abnormal glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED -en nl HP:0410183 IAO:0000115 An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED -en nl HP:0410180 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot NOT_TRANSLATED -en nl HP:0410180 IAO:0000115 An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot NOT_TRANSLATED -en nl HP:0410181 rdfs:label Increased glucose-6-phosphate dehydrogenase level in dried blood spot Increased glucose-6-phosphate dehydrogenase level in dried blood spot NOT_TRANSLATED -en nl HP:0410181 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot NOT_TRANSLATED -en nl HP:0410178 rdfs:label Increased glucose-6-phosphate dehydrogenase level in blood Increased glucose-6-phosphate dehydrogenase level in blood NOT_TRANSLATED -en nl HP:0410178 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in the blood An increase in the level of glucose-6-phosphate dehydrogenase in the blood NOT_TRANSLATED -en nl HP:0410179 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in blood Decreased glucose-6-phosphate dehydrogenase level in blood NOT_TRANSLATED -en nl HP:0410179 IAO:0000115 A decrease in the level of glucose-6-phosphate dehydrogenase in the blood A decrease in the level of glucose-6-phosphate dehydrogenase in the blood NOT_TRANSLATED -en nl HP:0410176 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level Abnormal glucose-6-phosphate dehydrogenase level NOT_TRANSLATED -en nl HP:0410176 IAO:0000115 An anomaly in the level of glucose-6-phosphate dehydrogenase An anomaly in the level of glucose-6-phosphate dehydrogenase NOT_TRANSLATED -en nl HP:0410177 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level in blood Abnormal glucose-6-phosphate dehydrogenase level in blood NOT_TRANSLATED -en nl HP:0410177 IAO:0000115 An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood NOT_TRANSLATED -en nl HP:0410190 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in leukocytes Decreased glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED -en nl HP:0410190 IAO:0000115 A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED -en nl HP:0410191 rdfs:label Increased glucose-6-phosphate dehydrogenase level in leukocytes Increased glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED -en nl HP:0410191 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED -en nl HP:0410188 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in red blood cells Decreased glucose-6-phosphate dehydrogenase level in red blood cells NOT_TRANSLATED -en nl HP:0410188 IAO:0000115 A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells NOT_TRANSLATED -en nl HP:0410189 rdfs:label Increased glucose-6-phosphate dehydrogenase level in red blood cells Increased glucose-6-phosphate dehydrogenase level in red blood cells NOT_TRANSLATED -en nl HP:0410189 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells NOT_TRANSLATED -en nl HP:0410186 rdfs:label Increased glucose-6-phosphate dehydrogenase level in tissue Increased glucose-6-phosphate dehydrogenase level in tissue NOT_TRANSLATED -en nl HP:0410186 IAO:0000115 An increase in the level of glucose-6-phosphate dehydrogenase in tissue An increase in the level of glucose-6-phosphate dehydrogenase in tissue NOT_TRANSLATED -en nl HP:0410187 rdfs:label Decreased glucose-6-phosphate dehydrogenase level in tissue Decreased glucose-6-phosphate dehydrogenase level in tissue NOT_TRANSLATED -en nl HP:0410187 IAO:0000115 A decrease in the level of glucose-6-phosphate dehydrogenase in tissue A decrease in the level of glucose-6-phosphate dehydrogenase in tissue NOT_TRANSLATED -en nl HP:0410184 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level in red blood cells Abnormal glucose-6-phosphate dehydrogenase level in red blood cells NOT_TRANSLATED -en nl HP:0410184 IAO:0000115 An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells NOT_TRANSLATED -en nl HP:0410185 rdfs:label Abnormal glucose-6-phosphate dehydrogenase level in tissue Abnormal glucose-6-phosphate dehydrogenase level in tissue NOT_TRANSLATED -en nl HP:0410185 IAO:0000115 An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue NOT_TRANSLATED -en nl HP:0410198 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in red blood cells Decreased uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED -en nl HP:0410198 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED -en nl HP:0410199 rdfs:label Increased CSF urate concentration Increased CSF urate concentration NOT_TRANSLATED -en nl HP:0410199 IAO:0000115 Increased concentration of urate in the cerebrospinal fluid Increased concentration of urate in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410196 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED -en nl HP:0410196 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED -en nl HP:0410197 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in red blood cells Increased uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED -en nl HP:0410197 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED -en nl HP:0410194 rdfs:label Increased uridine diphosphate glucose-4-epimerase level in plasma Increased uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED -en nl HP:0410194 IAO:0000115 An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED -en nl HP:0410195 rdfs:label Decreased uridine diphosphate glucose-4-epimerase level in plasma Decreased uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED -en nl HP:0410195 IAO:0000115 A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED -en nl HP:0410192 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level Abnormal uridine diphosphate glucose-4-epimerase level NOT_TRANSLATED -en nl HP:0410192 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED -en nl HP:0410193 rdfs:label Abnormal uridine diphosphate glucose-4-epimerase level in plasma Abnormal uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED -en nl HP:0410193 IAO:0000115 An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED -en nl HP:0410206 rdfs:label Increased circulating nicotinurate level Increased circulating nicotinurate level NOT_TRANSLATED -en nl HP:0410206 IAO:0000115 An increased amount of nicotinurate in the blood An increased amount of nicotinurate in the blood NOT_TRANSLATED -en nl HP:0410207 rdfs:label Positive methadone plasma/serum test Positive methadone plasma/serum test NOT_TRANSLATED -en nl HP:0410207 IAO:0000115 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum NOT_TRANSLATED -en nl HP:0410204 rdfs:label Increased intestinal transit time Increased intestinal transit time NOT_TRANSLATED -en nl HP:0410204 IAO:0000115 An increase in the length of time required for food to pass through the intestines An increase in the length of time required for food to pass through the intestines NOT_TRANSLATED -en nl HP:0410205 rdfs:label Abnormal circulating nicotinurate concentration Abnormal circulating nicotinurate concentration NOT_TRANSLATED -en nl HP:0410205 IAO:0000115 Any deviation from the normal concentration of nicotinurate in the blood Any deviation from the normal concentration of nicotinurate in the blood NOT_TRANSLATED -en nl HP:0410202 rdfs:label Positive stool barbiturate test Positive stool barbiturate test NOT_TRANSLATED -en nl HP:0410202 IAO:0000115 Detection of barbiturate metabolites such as phenobarbital in the stool Detection of barbiturate metabolites such as phenobarbital in the stool NOT_TRANSLATED -en nl HP:0410203 rdfs:label Positive gastric fluid barbiturate test Positive gastric fluid barbiturate test NOT_TRANSLATED -en nl HP:0410203 IAO:0000115 Detection of barbiturate metabolites such as phenobarbital in the gastric fluid Detection of barbiturate metabolites such as phenobarbital in the gastric fluid NOT_TRANSLATED -en nl HP:0410200 rdfs:label Positive meconium barbiturate test Positive meconium barbiturate test NOT_TRANSLATED -en nl HP:0410200 IAO:0000115 Detection of barbiturate metabolites such as phenobarbital in meconium Detection of barbiturate metabolites such as phenobarbital in meconium NOT_TRANSLATED -en nl HP:0410201 rdfs:label Positive hair barbiturate test Positive hair barbiturate test NOT_TRANSLATED -en nl HP:0410201 IAO:0000115 Detection of barbiturate metabolites such as phenobarbital in the hair Detection of barbiturate metabolites such as phenobarbital in the hair NOT_TRANSLATED -en nl HP:0410214 rdfs:label Hypercapnia in cord blood Hypercapnia in cord blood NOT_TRANSLATED -en nl HP:0410214 IAO:0000115 Abnormally elevated blood carbon dioxide (CO2) level in the cord blood Abnormally elevated blood carbon dioxide (CO2) level in the cord blood NOT_TRANSLATED -en nl HP:0410215 rdfs:label Hypocapnia in cord blood Hypocapnia in cord blood NOT_TRANSLATED -en nl HP:0410215 IAO:0000115 Abnormally decreased blood carbon dioxide (CO2) level in the cord blood Abnormally decreased blood carbon dioxide (CO2) level in the cord blood NOT_TRANSLATED -en nl HP:0410212 rdfs:label Hyperoxemia in cord blood Hyperoxemia in cord blood NOT_TRANSLATED -en nl HP:0410212 IAO:0000115 An abnormally high level of blood oxygen in the cord blood An abnormally high level of blood oxygen in the cord blood NOT_TRANSLATED -en nl HP:0410213 rdfs:label Hypoxemia in cord blood Hypoxemia in cord blood NOT_TRANSLATED -en nl HP:0410213 IAO:0000115 An abnormally low level of blood oxygen in the cord blood An abnormally low level of blood oxygen in the cord blood NOT_TRANSLATED -en nl HP:0410210 rdfs:label Abnormal cord blood measurement Abnormal cord blood measurement NOT_TRANSLATED -en nl HP:0410210 IAO:0000115 An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level NOT_TRANSLATED -en nl HP:0410211 rdfs:label Abnormal blood gas level in cord blood Abnormal blood gas level in cord blood NOT_TRANSLATED -en nl HP:0410208 rdfs:label Positive plasma/serum cotinine test Positive plasma/serum cotinine test NOT_TRANSLATED -en nl HP:0410208 IAO:0000115 Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum NOT_TRANSLATED -en nl HP:0410209 rdfs:label Folate deficiency in CSF Folate deficiency in CSF NOT_TRANSLATED -en nl HP:0410209 IAO:0000115 A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410222 rdfs:label Increased anti-seafood IgE antibody level Increased anti-seafood IgE antibody level NOT_TRANSLATED -en nl HP:0410222 IAO:0000115 Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone NOT_TRANSLATED -en nl HP:0410223 rdfs:label Increased anti-dust mite IgE antibody level Increased anti-dust mite IgE antibody level NOT_TRANSLATED -en nl HP:0410223 IAO:0000115 Increased level of IgE antibody against dust mites, such as house dust mites Increased level of IgE antibody against dust mites, such as house dust mites NOT_TRANSLATED -en nl HP:0410220 rdfs:label Increased anti-dairy protein IgE antibody level Increased anti-dairy protein IgE antibody level NOT_TRANSLATED -en nl HP:0410220 IAO:0000115 Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products NOT_TRANSLATED -en nl HP:0410221 rdfs:label Increased anti-animal protein IgE antibody level Increased anti-animal protein IgE antibody level NOT_TRANSLATED -en nl HP:0410221 IAO:0000115 Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine NOT_TRANSLATED -en nl HP:0410218 rdfs:label Hypoplasia of maxilla relative to mandible Hypoplasia of maxilla relative to mandible NOT_TRANSLATED -en nl HP:0410218 IAO:0000115 Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw) Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw) NOT_TRANSLATED -en nl HP:0410219 rdfs:label Hypoplasia of mandible relative to maxilla Hypoplasia of mandible relative to maxilla NOT_TRANSLATED -en nl HP:0410219 IAO:0000115 Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw) Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw) NOT_TRANSLATED -en nl HP:0410216 rdfs:label Abnormal blood 5-methyltetrahydrofolate level Abnormal blood 5-methyltetrahydrofolate level NOT_TRANSLATED -en nl HP:0410216 IAO:0000115 An abnormal concentration of 5-methyltetrahydrofolate in the blood An abnormal concentration of 5-methyltetrahydrofolate in the blood NOT_TRANSLATED -en nl HP:0410217 rdfs:label Reduced blood 5-methyltetrahydrofolate level Reduced blood 5-methyltetrahydrofolate level NOT_TRANSLATED -en nl HP:0410217 IAO:0000115 A decreased concentration of 5-methyltetrahydrofolate in the blood A decreased concentration of 5-methyltetrahydrofolate in the blood NOT_TRANSLATED -en nl HP:0410230 rdfs:label Increased anti-nut food product IgE antibody level Increased anti-nut food product IgE antibody level NOT_TRANSLATED -en nl HP:0410230 IAO:0000115 Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds NOT_TRANSLATED -en nl HP:0410231 rdfs:label Increased anti-egg IgE antibody level Increased anti-egg IgE antibody level NOT_TRANSLATED -en nl HP:0410231 IAO:0000115 Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid NOT_TRANSLATED -en nl HP:0410228 rdfs:label Increased anti-plant based food allergen IgE antibody level Increased anti-plant based food allergen IgE antibody level NOT_TRANSLATED -en nl HP:0410228 IAO:0000115 Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits NOT_TRANSLATED -en nl HP:0410229 rdfs:label Increased anti-gluten IgE antibody level Increased anti-gluten IgE antibody level NOT_TRANSLATED -en nl HP:0410229 IAO:0000115 Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye NOT_TRANSLATED -en nl HP:0410226 rdfs:label Increased anti-feather IgE antibody level Increased anti-feather IgE antibody level NOT_TRANSLATED -en nl HP:0410226 IAO:0000115 Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers NOT_TRANSLATED -en nl HP:0410227 rdfs:label Increased anti-food allergen IgE antibody level Increased anti-food allergen IgE antibody level NOT_TRANSLATED -en nl HP:0410227 IAO:0000115 Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish NOT_TRANSLATED -en nl HP:0410224 rdfs:label Increased anti-bacteria IgE antibody level Increased anti-bacteria IgE antibody level NOT_TRANSLATED -en nl HP:0410224 IAO:0000115 Increased level of IgE antibody against bacteria Increased level of IgE antibody against bacteria NOT_TRANSLATED -en nl HP:0410225 rdfs:label Increased anti-drug IgE antibody level Increased anti-drug IgE antibody level NOT_TRANSLATED -en nl HP:0410225 IAO:0000115 Increased level of IgE antibody against a drug or class of drugs, such as antibiotics Increased level of IgE antibody against a drug or class of drugs, such as antibiotics NOT_TRANSLATED -en nl HP:0410238 rdfs:label Increased anti-plant product IgE antibody level Increased anti-plant product IgE antibody level NOT_TRANSLATED -en nl HP:0410238 IAO:0000115 Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen NOT_TRANSLATED -en nl HP:0410239 rdfs:label Positive urine norcotinine test Positive urine norcotinine test NOT_TRANSLATED -en nl HP:0410239 IAO:0000115 Detection of norcotinine, a metabolite of nicotine, in urine Detection of norcotinine, a metabolite of nicotine, in urine NOT_TRANSLATED -en nl HP:0410236 rdfs:label Increased anti-venom IgE antibody level Increased anti-venom IgE antibody level NOT_TRANSLATED -en nl HP:0410236 IAO:0000115 Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets NOT_TRANSLATED -en nl HP:0410234 rdfs:label Increased anti-parasite IgE antibody level Increased anti-parasite IgE antibody level NOT_TRANSLATED -en nl HP:0410234 IAO:0000115 Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii NOT_TRANSLATED -en nl HP:0410235 rdfs:label Increased anti-insect IgE antibody level Increased anti-insect IgE antibody level NOT_TRANSLATED -en nl HP:0410235 IAO:0000115 Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches NOT_TRANSLATED -en nl HP:0410232 rdfs:label Increased anti-fungi IgE antibody level Increased anti-fungi IgE antibody level NOT_TRANSLATED -en nl HP:0410232 IAO:0000115 Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota NOT_TRANSLATED -en nl HP:0410233 rdfs:label Increased anti-meat allergen IgE antibody level Increased anti-meat allergen IgE antibody level NOT_TRANSLATED -en nl HP:0410233 IAO:0000115 Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken NOT_TRANSLATED -en nl HP:0410246 rdfs:label Increased circulating IgD level Increased circulating IgD level NOT_TRANSLATED -en nl HP:0410246 IAO:0000115 An abnormally increased level of immunoglobulin D in blood An abnormally increased level of immunoglobulin D in blood NOT_TRANSLATED -en nl HP:0410247 rdfs:label Increased anti-animal dander IgE antibody level Increased anti-animal dander IgE antibody level NOT_TRANSLATED -en nl HP:0410247 IAO:0000115 Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats NOT_TRANSLATED -en nl HP:0410244 rdfs:label Abnormal circulating IgD level Abnormal circulating IgD level NOT_TRANSLATED -en nl HP:0410244 IAO:0000115 An abnormal deviation from normal levels of IgD immunoglobulin in blood An abnormal deviation from normal levels of IgD immunoglobulin in blood NOT_TRANSLATED -en nl HP:0410245 rdfs:label Decreased circulating IgD Decreased circulating IgD NOT_TRANSLATED -en nl HP:0410245 IAO:0000115 An abnormally decreased level of immunoglobulin D (IgD) in blood An abnormally decreased level of immunoglobulin D (IgD) in blood NOT_TRANSLATED -en nl HP:0410242 rdfs:label Abnormal circulating IgG level Abnormal circulating IgG level NOT_TRANSLATED -en nl HP:0410242 IAO:0000115 An abnormal deviation from normal levels of IgG immunoglobulin in blood An abnormal deviation from normal levels of IgG immunoglobulin in blood NOT_TRANSLATED -en nl HP:0410243 rdfs:label Abnormal circulating IgM level Abnormal circulating IgM level NOT_TRANSLATED -en nl HP:0410243 IAO:0000115 An abnormal deviation from normal levels of IgM immunoglobulin in blood An abnormal deviation from normal levels of IgM immunoglobulin in blood NOT_TRANSLATED -en nl HP:0410240 rdfs:label Abnormal circulating IgA level Abnormal circulating IgA level NOT_TRANSLATED -en nl HP:0410240 IAO:0000115 An abnormal deviation from normal levels of IgA immunoglobulin in blood An abnormal deviation from normal levels of IgA immunoglobulin in blood NOT_TRANSLATED -en nl HP:0410241 rdfs:label Abnormal circulating IgE level Abnormal circulating IgE level NOT_TRANSLATED -en nl HP:0410241 IAO:0000115 An abnormal deviation from normal levels of IgE immunoglobulin in blood An abnormal deviation from normal levels of IgE immunoglobulin in blood NOT_TRANSLATED -en nl HP:0410254 rdfs:label Cyclic neutropenia in myeloid maturation arrest in bone marrow Cyclic neutropenia in myeloid maturation arrest in bone marrow NOT_TRANSLATED -en nl HP:0410254 IAO:0000115 Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow NOT_TRANSLATED -en nl HP:0410255 rdfs:label Transient neutropenia Transient neutropenia NOT_TRANSLATED -en nl HP:0410255 IAO:0000115 A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity NOT_TRANSLATED -en nl HP:0410252 rdfs:label Chronic neutropenia Chronic neutropenia NOT_TRANSLATED -en nl HP:0410252 IAO:0000115 Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months NOT_TRANSLATED -en nl HP:0410253 rdfs:label Myeloid maturation arrest Myeloid maturation arrest NOT_TRANSLATED -en nl HP:0410253 IAO:0000115 Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow NOT_TRANSLATED -en nl HP:0410251 rdfs:label Abnormal L-selectin shedding Abnormal L-selectin shedding NOT_TRANSLATED -en nl HP:0410251 IAO:0000115 An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection NOT_TRANSLATED -en nl HP:0410248 rdfs:label Increased anti-house dust mite IgE antibody level Increased anti-house dust mite IgE antibody level NOT_TRANSLATED -en nl HP:0410248 IAO:0000115 Increased level of IgE antibody against house dust mites, a common allergen Increased level of IgE antibody against house dust mites, a common allergen NOT_TRANSLATED -en nl HP:0410249 rdfs:label Increased anti-alpha-gal IgE antibody level Increased anti-alpha-gal IgE antibody level NOT_TRANSLATED -en nl HP:0410249 IAO:0000115 Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat NOT_TRANSLATED -en nl HP:0410262 rdfs:label Lower cranial nerve dysfunction Lower cranial nerve dysfunction NOT_TRANSLATED -en nl HP:0410262 IAO:0000115 A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves NOT_TRANSLATED -en nl HP:0410263 rdfs:label Brain imaging abnormality Brain imaging abnormality NOT_TRANSLATED -en nl HP:0410263 IAO:0000115 An anomaly of metabolism or structure of the brain identified by imaging An anomaly of metabolism or structure of the brain identified by imaging NOT_TRANSLATED -en nl HP:0410260 rdfs:label Asymmetrical gluteal crease Asymmetrical gluteal crease NOT_TRANSLATED -en nl HP:0410260 IAO:0000115 The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg NOT_TRANSLATED -en nl HP:0410261 rdfs:label Wide space between 4th and 5th toe Wide space between 4th and 5th toe NOT_TRANSLATED -en nl HP:0410261 IAO:0000115 A widely spaced gap between the fourth toe and the fifth (pinky) toe A widely spaced gap between the fourth toe and the fifth (pinky) toe NOT_TRANSLATED -en nl HP:0410258 rdfs:label Neutrophilia in absence of infection Neutrophilia in absence of infection NOT_TRANSLATED -en nl HP:0410258 IAO:0000115 An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders NOT_TRANSLATED -en nl HP:0410259 rdfs:label Hepatopulmonary fusion Hepatopulmonary fusion NOT_TRANSLATED -en nl HP:0410259 IAO:0000115 Fusion of the liver with the lung Fusion of the liver with the lung NOT_TRANSLATED -en nl HP:0410256 rdfs:label Infection associated neutropenia Infection associated neutropenia NOT_TRANSLATED -en nl HP:0410256 IAO:0000115 Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan NOT_TRANSLATED -en nl HP:0410257 rdfs:label Neutrophilia in presence of infection Neutrophilia in presence of infection NOT_TRANSLATED -en nl HP:0410257 IAO:0000115 An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus NOT_TRANSLATED -en nl HP:0410270 rdfs:label Esophageal hemangioma Esophageal hemangioma NOT_TRANSLATED -en nl HP:0410270 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus NOT_TRANSLATED -en nl HP:0410271 rdfs:label Laryngeal hemangioma Laryngeal hemangioma NOT_TRANSLATED -en nl HP:0410271 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions NOT_TRANSLATED -en nl HP:0410268 rdfs:label Spleen hemangioma Spleen hemangioma NOT_TRANSLATED -en nl HP:0410268 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen NOT_TRANSLATED -en nl HP:0410269 rdfs:label Labial hemangioma Labial hemangioma NOT_TRANSLATED -en nl HP:0410269 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip NOT_TRANSLATED -en nl HP:0410266 rdfs:label Visceral hemangioma Visceral hemangioma NOT_TRANSLATED -en nl HP:0410266 IAO:0000115 A hemangioma arising from within visceral structures, the internal organs of the body A hemangioma arising from within visceral structures, the internal organs of the body NOT_TRANSLATED -en nl HP:0410267 rdfs:label Intestinal hemangioma Intestinal hemangioma NOT_TRANSLATED -en nl HP:0410267 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel NOT_TRANSLATED -en nl HP:0410264 rdfs:label Subglottic hemangioma Subglottic hemangioma NOT_TRANSLATED -en nl HP:0410264 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway NOT_TRANSLATED -en nl HP:0410265 rdfs:label Supraglottic hemangioma Supraglottic hemangioma NOT_TRANSLATED -en nl HP:0410265 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords NOT_TRANSLATED -en nl HP:0410278 rdfs:label Pituitary gland cyst Pituitary gland cyst NOT_TRANSLATED -en nl HP:0410278 IAO:0000115 A fluid-filled sacs that develop on or near the pituitary gland A fluid-filled sacs that develop on or near the pituitary gland NOT_TRANSLATED -en nl HP:0410279 rdfs:label Atrophic pituitary gland Atrophic pituitary gland NOT_TRANSLATED -en nl HP:0410279 IAO:0000115 Partial or complete wasting (loss) of the pituitary gland Partial or complete wasting (loss) of the pituitary gland NOT_TRANSLATED -en nl HP:0410276 rdfs:label Supraumbilical raphe Supraumbilical raphe NOT_TRANSLATED -en nl HP:0410276 IAO:0000115 An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button) An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button) NOT_TRANSLATED -en nl HP:0410277 rdfs:label Sternal pit Sternal pit NOT_TRANSLATED -en nl HP:0410277 IAO:0000115 A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum NOT_TRANSLATED -en nl HP:0410274 rdfs:label Paraspinal hemangioma Paraspinal hemangioma NOT_TRANSLATED -en nl HP:0410274 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine NOT_TRANSLATED -en nl HP:0410275 rdfs:label Lumbosacral hemangioma Lumbosacral hemangioma NOT_TRANSLATED -en nl HP:0410275 IAO:0000115 A spinal cord hemangioma located in the lumbosacral spine region A spinal cord hemangioma located in the lumbosacral spine region NOT_TRANSLATED -en nl HP:0410272 rdfs:label Vulvar hemangioma Vulvar hemangioma NOT_TRANSLATED -en nl HP:0410272 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva NOT_TRANSLATED -en nl HP:0410273 rdfs:label Retropharyngeal hemangioma Retropharyngeal hemangioma NOT_TRANSLATED -en nl HP:0410273 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx NOT_TRANSLATED -en nl HP:0410286 rdfs:label Positive blood molindone test Positive blood molindone test NOT_TRANSLATED -en nl HP:0410286 IAO:0000115 Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia NOT_TRANSLATED -en nl HP:0410287 rdfs:label Intrathoracic hemangioma Intrathoracic hemangioma NOT_TRANSLATED -en nl HP:0410287 IAO:0000115 A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region NOT_TRANSLATED -en nl HP:0410284 rdfs:label Positive norpropoxyphene blood test Positive norpropoxyphene blood test NOT_TRANSLATED -en nl HP:0410284 IAO:0000115 Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene NOT_TRANSLATED -en nl HP:0410285 rdfs:label Positive meconium methadone test Positive meconium methadone test NOT_TRANSLATED -en nl HP:0410285 IAO:0000115 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium NOT_TRANSLATED -en nl HP:0410282 rdfs:label Abnormal circulating amylase concentration Abnormal circulating amylase concentration NOT_TRANSLATED -en nl HP:0410282 IAO:0000115 A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands NOT_TRANSLATED -en nl HP:0410283 rdfs:label Positive blood acetaminophen test Positive blood acetaminophen test NOT_TRANSLATED -en nl HP:0410283 IAO:0000115 Detection of acetaminophen in the blood Detection of acetaminophen in the blood NOT_TRANSLATED -en nl HP:0410280 rdfs:label Pediatric onset Pediatric onset NOT_TRANSLATED -en nl HP:0410280 IAO:0000115 Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset NOT_TRANSLATED -en nl HP:0410281 rdfs:label Dyspepsia Dyspepsia NOT_TRANSLATED -en nl HP:0410281 IAO:0000115 A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur NOT_TRANSLATED -en nl HP:0410294 rdfs:label Decreased specific antibody response to protein vaccine Decreased specific antibody response to protein vaccine NOT_TRANSLATED -en nl HP:0410294 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410295 rdfs:label Complete or near-complete absence of specific antibody response to tetanus vaccine Complete or near-complete absence of specific antibody response to tetanus vaccine NOT_TRANSLATED -en nl HP:0410295 IAO:0000115 The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410292 rdfs:label Abnormal isohemagglutinin level Abnormal isohemagglutinin level NOT_TRANSLATED -en nl HP:0410292 IAO:0000115 An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) NOT_TRANSLATED -en nl HP:0410293 rdfs:label Absent isohemagglutinin level Absent isohemagglutinin level NOT_TRANSLATED -en nl HP:0410293 IAO:0000115 Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) NOT_TRANSLATED -en nl HP:0410290 rdfs:label Positive urine norpropoxyphene test Positive urine norpropoxyphene test NOT_TRANSLATED -en nl HP:0410290 IAO:0000115 Detection of norpropoxyphene in urine Detection of norpropoxyphene in urine NOT_TRANSLATED -en nl HP:0410291 rdfs:label Negativism Negativism NOT_TRANSLATED -en nl HP:0410291 IAO:0000115 Opposing or not responding to instructions or external stimuli Opposing or not responding to instructions or external stimuli NOT_TRANSLATED -en nl HP:0410288 rdfs:label Hyperamylasemia Hyperamylasemia NOT_TRANSLATED -en nl HP:0410288 IAO:0000115 Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands NOT_TRANSLATED -en nl HP:0410289 rdfs:label Hypoamylasemia Hypoamylasemia NOT_TRANSLATED -en nl HP:0410289 IAO:0000115 Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands NOT_TRANSLATED -en nl HP:0410302 rdfs:label Decreased specific antibody response to protein-conjugated polysaccharide vaccine Decreased specific antibody response to protein-conjugated polysaccharide vaccine NOT_TRANSLATED -en nl HP:0410302 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410303 rdfs:label Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine NOT_TRANSLATED -en nl HP:0410303 IAO:0000115 The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410300 rdfs:label Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine NOT_TRANSLATED -en nl HP:0410300 IAO:0000115 The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410301 rdfs:label Partial absence of specific antibody response to unconjugated pneumococcus vaccine Partial absence of specific antibody response to unconjugated pneumococcus vaccine NOT_TRANSLATED -en nl HP:0410301 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410298 rdfs:label Partial absence of specific antibody response to hepatitis B vaccine Partial absence of specific antibody response to hepatitis B vaccine NOT_TRANSLATED -en nl HP:0410298 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410299 rdfs:label Decreased specific antibody response to polysaccharide vaccine Decreased specific antibody response to polysaccharide vaccine NOT_TRANSLATED -en nl HP:0410299 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410296 rdfs:label Complete or near-complete absence of specific antibody response to hepatitis B vaccine Complete or near-complete absence of specific antibody response to hepatitis B vaccine NOT_TRANSLATED -en nl HP:0410296 IAO:0000115 The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410297 rdfs:label Partial absence of specific antibody response to tetanus vaccine Partial absence of specific antibody response to tetanus vaccine NOT_TRANSLATED -en nl HP:0410297 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410310 rdfs:label Abnormality of neutrophil morphology in CSF Abnormality of neutrophil morphology in CSF NOT_TRANSLATED -en nl HP:0410310 IAO:0000115 An abnormal form or size of neutrophils in the cerebrospinal fluid An abnormal form or size of neutrophils in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410311 rdfs:label Hyposegmentation of neutrophil nuclei in CSF Hyposegmentation of neutrophil nuclei in CSF NOT_TRANSLATED -en nl HP:0410311 IAO:0000115 Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410308 rdfs:label Decreased specific antibody response to infection Decreased specific antibody response to infection NOT_TRANSLATED -en nl HP:0410308 IAO:0000115 A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection NOT_TRANSLATED -en nl HP:0410309 rdfs:label Alpha-aminoadipic aciduria Alpha-aminoadipic aciduria NOT_TRANSLATED -en nl HP:0410309 IAO:0000115 A increased concentration of alpha-aminoadipic acid in the urine A increased concentration of alpha-aminoadipic acid in the urine NOT_TRANSLATED -en nl HP:0410306 rdfs:label Partial absence of specific antibody response to meningococcus vaccine Partial absence of specific antibody response to meningococcus vaccine NOT_TRANSLATED -en nl HP:0410306 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410307 rdfs:label Positive stool methadone test Positive stool methadone test NOT_TRANSLATED -en nl HP:0410307 IAO:0000115 Detection of methadone and its metabolites in the stool Detection of methadone and its metabolites in the stool NOT_TRANSLATED -en nl HP:0410304 rdfs:label Complete or near-complete absence of specific antibody response to meningococcus vaccine Complete or near-complete absence of specific antibody response to meningococcus vaccine NOT_TRANSLATED -en nl HP:0410304 IAO:0000115 The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410305 rdfs:label Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine NOT_TRANSLATED -en nl HP:0410305 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0410318 rdfs:label Decreased urinary 3-methylhistidine Decreased urinary 3-methylhistidine NOT_TRANSLATED -en nl HP:0410318 IAO:0000115 Decreased concentration of 3-methylhistidine in the urine Decreased concentration of 3-methylhistidine in the urine NOT_TRANSLATED -en nl HP:0410319 rdfs:label Alpha-gal allergy Alpha-gal allergy NOT_TRANSLATED -en nl HP:0410319 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against alpha-gal Hypersensitivity in form of an adverse immune reaction against alpha-gal NOT_TRANSLATED -en nl HP:0410316 rdfs:label Abnormal urinary 3-methylhistidine level Abnormal urinary 3-methylhistidine level NOT_TRANSLATED -en nl HP:0410316 IAO:0000115 Abnormal amount of 3-methylhistidine in the urine Abnormal amount of 3-methylhistidine in the urine NOT_TRANSLATED -en nl HP:0410317 rdfs:label Increased urinary 3-methylhistidine Increased urinary 3-methylhistidine NOT_TRANSLATED -en nl HP:0410317 IAO:0000115 Increased concentration of 3-methylhistidine in the urine Increased concentration of 3-methylhistidine in the urine NOT_TRANSLATED -en nl HP:0410314 rdfs:label Decreased urinary 1-methylhistidine Decreased urinary 1-methylhistidine NOT_TRANSLATED -en nl HP:0410314 IAO:0000115 Decreased concentration of 1-methylhistidine in the urine Decreased concentration of 1-methylhistidine in the urine NOT_TRANSLATED -en nl HP:0410315 rdfs:label Increased urinary 1-methylhistidine Increased urinary 1-methylhistidine NOT_TRANSLATED -en nl HP:0410315 IAO:0000115 Increased concentration of 1-methylhistidine in the urine Increased concentration of 1-methylhistidine in the urine NOT_TRANSLATED -en nl HP:0410312 rdfs:label Hypersegmentation of neutrophil nuclei in CSF Hypersegmentation of neutrophil nuclei in CSF NOT_TRANSLATED -en nl HP:0410312 IAO:0000115 An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0410313 rdfs:label Abnormal urinary 1-methylhistidine concentration Abnormal urinary 1-methylhistidine concentration NOT_TRANSLATED -en nl HP:0410313 IAO:0000115 Abnormal concentration of 1-methylhistidine in the urine Abnormal concentration of 1-methylhistidine in the urine NOT_TRANSLATED -en nl HP:0410326 rdfs:label Feather allergy Feather allergy NOT_TRANSLATED -en nl HP:0410326 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against feathers Hypersensitivity in form of an adverse immune reaction against feathers NOT_TRANSLATED -en nl HP:0410327 rdfs:label Dairy allergy Dairy allergy NOT_TRANSLATED -en nl HP:0410327 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against dairy Hypersensitivity in form of an adverse immune reaction against dairy NOT_TRANSLATED -en nl HP:0410324 rdfs:label Dust mite allergy Dust mite allergy NOT_TRANSLATED -en nl HP:0410324 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against dust mites Hypersensitivity in form of an adverse immune reaction against dust mites NOT_TRANSLATED -en nl HP:0410325 rdfs:label House dust mite allergy House dust mite allergy NOT_TRANSLATED -en nl HP:0410325 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against house dust mites Hypersensitivity in form of an adverse immune reaction against house dust mites NOT_TRANSLATED -en nl HP:0410322 rdfs:label Bacteria allergy Bacteria allergy NOT_TRANSLATED -en nl HP:0410322 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against bacteria Hypersensitivity in form of an adverse immune reaction against bacteria NOT_TRANSLATED -en nl HP:0410323 rdfs:label Drug allergy Drug allergy NOT_TRANSLATED -en nl HP:0410323 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against drugs Hypersensitivity in form of an adverse immune reaction against drugs NOT_TRANSLATED -en nl HP:0410320 rdfs:label Animal protein allergy Animal protein allergy NOT_TRANSLATED -en nl HP:0410320 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against animal proteins Hypersensitivity in form of an adverse immune reaction against animal proteins NOT_TRANSLATED -en nl HP:0410321 rdfs:label Animal dander allergy Animal dander allergy NOT_TRANSLATED -en nl HP:0410321 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against animal dander Hypersensitivity in form of an adverse immune reaction against animal dander NOT_TRANSLATED -en nl HP:0410334 rdfs:label Fungi allergy Fungi allergy NOT_TRANSLATED -en nl HP:0410334 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against fungus Hypersensitivity in form of an adverse immune reaction against fungus NOT_TRANSLATED -en nl HP:0410335 rdfs:label Insect allergy Insect allergy NOT_TRANSLATED -en nl HP:0410335 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against insects Hypersensitivity in form of an adverse immune reaction against insects NOT_TRANSLATED -en nl HP:0410332 rdfs:label Plant based food allergy Plant based food allergy NOT_TRANSLATED -en nl HP:0410332 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against plant based food allergens Hypersensitivity in form of an adverse immune reaction against plant based food allergens NOT_TRANSLATED -en nl HP:0410333 rdfs:label Seafood allergy Seafood allergy NOT_TRANSLATED -en nl HP:0410333 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against seafood Hypersensitivity in form of an adverse immune reaction against seafood NOT_TRANSLATED -en nl HP:0410330 rdfs:label Meat allergen allergy Meat allergen allergy NOT_TRANSLATED -en nl HP:0410330 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products NOT_TRANSLATED -en nl HP:0410331 rdfs:label Nut food product allergy Nut food product allergy NOT_TRANSLATED -en nl HP:0410331 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against nut food products Hypersensitivity in form of an adverse immune reaction against nut food products NOT_TRANSLATED -en nl HP:0410328 rdfs:label Egg allergy Egg allergy NOT_TRANSLATED -en nl HP:0410328 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against eggs Hypersensitivity in form of an adverse immune reaction against eggs NOT_TRANSLATED -en nl HP:0410329 rdfs:label Gluten allergy Gluten allergy NOT_TRANSLATED -en nl HP:0410329 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against gluten Hypersensitivity in form of an adverse immune reaction against gluten NOT_TRANSLATED -en nl HP:0410342 rdfs:label Increased circulating heparan sulfate level Increased circulating heparan sulfate level NOT_TRANSLATED -en nl HP:0410342 IAO:0000115 An abnormal increase in the concentration of heparan sulfate in the blood An abnormal increase in the concentration of heparan sulfate in the blood NOT_TRANSLATED -en nl HP:0410343 rdfs:label Decreased circulating heparan sulfate level Decreased circulating heparan sulfate level NOT_TRANSLATED -en nl HP:0410343 IAO:0000115 An abnormal decrease in the concentration of heparan sulfate in the blood An abnormal decrease in the concentration of heparan sulfate in the blood NOT_TRANSLATED -en nl HP:0410340 rdfs:label Focal epithelial hyperplasia of oral mucosa Focal epithelial hyperplasia of oral mucosa NOT_TRANSLATED -en nl HP:0410340 IAO:0000115 The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate NOT_TRANSLATED -en nl HP:0410341 rdfs:label Abnormal circulating heparan sulfate level Abnormal circulating heparan sulfate level NOT_TRANSLATED -en nl HP:0410341 IAO:0000115 An abnormal level of heparan sulfate in the blood An abnormal level of heparan sulfate in the blood NOT_TRANSLATED -en nl HP:0410338 rdfs:label Plant product allergy Plant product allergy NOT_TRANSLATED -en nl HP:0410338 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against plant products Hypersensitivity in form of an adverse immune reaction against plant products NOT_TRANSLATED -en nl HP:0410339 rdfs:label Insect bite allergy Insect bite allergy NOT_TRANSLATED -en nl HP:0410339 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against insect bites Hypersensitivity in form of an adverse immune reaction against insect bites NOT_TRANSLATED -en nl HP:0410336 rdfs:label Venom allergy Venom allergy NOT_TRANSLATED -en nl HP:0410336 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against insect venom Hypersensitivity in form of an adverse immune reaction against insect venom NOT_TRANSLATED -en nl HP:0410337 rdfs:label Parasite allergy Parasite allergy NOT_TRANSLATED -en nl HP:0410337 IAO:0000115 Hypersensitivity in form of an adverse immune reaction against parasites Hypersensitivity in form of an adverse immune reaction against parasites NOT_TRANSLATED -en nl HP:0410350 rdfs:label Increased urinary fucosylated oligosaccharide Increased urinary fucosylated oligosaccharide NOT_TRANSLATED -en nl HP:0410350 IAO:0000115 An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine NOT_TRANSLATED -en nl HP:0410351 rdfs:label Abnormal complex N-glycan level Abnormal complex N-glycan level NOT_TRANSLATED -en nl HP:0410351 IAO:0000115 An abnormal concentration of complex N-glycans on glycoproteins An abnormal concentration of complex N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410348 rdfs:label Increased urinary multiantennary sialylated oligosaccharide Increased urinary multiantennary sialylated oligosaccharide NOT_TRANSLATED -en nl HP:0410348 IAO:0000115 An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine NOT_TRANSLATED -en nl HP:0410349 rdfs:label Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level NOT_TRANSLATED -en nl HP:0410349 IAO:0000115 An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level NOT_TRANSLATED -en nl HP:0410346 rdfs:label Increased urinary galactosylated oligosaccharide Increased urinary galactosylated oligosaccharide NOT_TRANSLATED -en nl HP:0410346 IAO:0000115 An abnormal increase in the concentration of galactosylated oligosaccharides in urine An abnormal increase in the concentration of galactosylated oligosaccharides in urine NOT_TRANSLATED -en nl HP:0410347 rdfs:label Increased urinary high-mannose-type oligosaccharide Increased urinary high-mannose-type oligosaccharide NOT_TRANSLATED -en nl HP:0410347 IAO:0000115 An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine NOT_TRANSLATED -en nl HP:0410344 rdfs:label Shortened O-fucosylated glycan on properdin Shortened O-fucosylated glycan on properdin NOT_TRANSLATED -en nl HP:0410344 IAO:0000115 Decreased length of O-fucosylated glycans present on properdin Decreased length of O-fucosylated glycans present on properdin NOT_TRANSLATED -en nl HP:0410345 rdfs:label Increased urinary polyhexose Increased urinary polyhexose NOT_TRANSLATED -en nl HP:0410345 IAO:0000115 An abnormal increase in the concentration of polyhexose in the urine An abnormal increase in the concentration of polyhexose in the urine NOT_TRANSLATED -en nl HP:0410358 rdfs:label Decreased high-mannose N-glycan level Decreased high-mannose N-glycan level NOT_TRANSLATED -en nl HP:0410358 IAO:0000115 An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410359 rdfs:label Abnormal core 1 O-glycan level Abnormal core 1 O-glycan level NOT_TRANSLATED -en nl HP:0410359 IAO:0000115 An abnormal in the concentration of core 1 O-glycans on glycoproteins An abnormal in the concentration of core 1 O-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410356 rdfs:label Abnormal high-mannose N-glycan level Abnormal high-mannose N-glycan level NOT_TRANSLATED -en nl HP:0410356 IAO:0000115 An abnormal concentration of high-mannose N-glycans on glycoproteins An abnormal concentration of high-mannose N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410357 rdfs:label Increased high-mannose N-glycan level Increased high-mannose N-glycan level NOT_TRANSLATED -en nl HP:0410357 IAO:0000115 An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410354 rdfs:label Increased sialylated N-glycan level Increased sialylated N-glycan level NOT_TRANSLATED -en nl HP:0410354 IAO:0000115 An abnormal increase in the concentration of sialylated N-glycans on glycoproteins An abnormal increase in the concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410355 rdfs:label Decreased sialylated N-glycan level Decreased sialylated N-glycan level NOT_TRANSLATED -en nl HP:0410355 IAO:0000115 An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410352 rdfs:label Increased complex N-glycan level Increased complex N-glycan level NOT_TRANSLATED -en nl HP:0410352 IAO:0000115 An abnormal increase in the concentration of complex N-glycans on glycoproteins An abnormal increase in the concentration of complex N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410353 rdfs:label Decreased complex N-glycan level Decreased complex N-glycan level NOT_TRANSLATED -en nl HP:0410353 IAO:0000115 An abnormal decrease in the concentration of complex N-glycans on glycoproteins An abnormal decrease in the concentration of complex N-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410366 rdfs:label Increased globoside Gb4 level Increased globoside Gb4 level NOT_TRANSLATED -en nl HP:0410366 IAO:0000115 An abnormal increase in the concentration of globoside Gb4 An abnormal increase in the concentration of globoside Gb4 NOT_TRANSLATED -en nl HP:0410367 rdfs:label Increased hepatitis A virus antibody level Increased hepatitis A virus antibody level NOT_TRANSLATED -en nl HP:0410367 IAO:0000115 An abnormally increased level of immunoglobulin against hepatitis A virus in the blood An abnormally increased level of immunoglobulin against hepatitis A virus in the blood NOT_TRANSLATED -en nl HP:0410364 rdfs:label Decreased monosialylated core 1 O-glycan level Decreased monosialylated core 1 O-glycan level NOT_TRANSLATED -en nl HP:0410364 IAO:0000115 An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410365 rdfs:label Increased disialylated core 1 O-glycan level Increased disialylated core 1 O-glycan level NOT_TRANSLATED -en nl HP:0410365 IAO:0000115 An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410362 rdfs:label Decreased O-mannosyl glycans on alpha-dystroglycan Decreased O-mannosyl glycans on alpha-dystroglycan NOT_TRANSLATED -en nl HP:0410362 IAO:0000115 Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix NOT_TRANSLATED -en nl HP:0410363 rdfs:label Increased monosialylated core 1 O-glycan level Increased monosialylated core 1 O-glycan level NOT_TRANSLATED -en nl HP:0410363 IAO:0000115 An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410360 rdfs:label Increased core 1 O-glycan level Increased core 1 O-glycan level NOT_TRANSLATED -en nl HP:0410360 IAO:0000115 An abnormal increase in the concentration of core 1 O-glycans on glycoproteins An abnormal increase in the concentration of core 1 O-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410361 rdfs:label Decreased core 1 O-glycan level Decreased core 1 O-glycan level NOT_TRANSLATED -en nl HP:0410361 IAO:0000115 An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins NOT_TRANSLATED -en nl HP:0410374 rdfs:label Abnormal proportion of naive CD8 T cells Abnormal proportion of naive CD8 T cells NOT_TRANSLATED -en nl HP:0410374 IAO:0000115 Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0410375 rdfs:label Increased proportion of naive CD4 T cells Increased proportion of naive CD4 T cells NOT_TRANSLATED -en nl HP:0410372 rdfs:label Increased Tn-antigen level Increased Tn-antigen level NOT_TRANSLATED -en nl HP:0410372 IAO:0000115 An abnormal increase in the concentration of Tn antigen on glycoproteins An abnormal increase in the concentration of Tn antigen on glycoproteins NOT_TRANSLATED -en nl HP:0410373 rdfs:label Abnormal proportion of naive CD4 T cells Abnormal proportion of naive CD4 T cells NOT_TRANSLATED -en nl HP:0410373 IAO:0000115 Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0410370 rdfs:label Absence of ganglioside GM3 Absence of ganglioside GM3 NOT_TRANSLATED -en nl HP:0410370 IAO:0000115 The absence of ganglioside GM3 The absence of ganglioside GM3 NOT_TRANSLATED -en nl HP:0410371 rdfs:label Increased hepatitis C virus antibody level Increased hepatitis C virus antibody level NOT_TRANSLATED -en nl HP:0410371 IAO:0000115 An abnormally increased level of immunoglobulin against hepatitis C virus in the blood An abnormally increased level of immunoglobulin against hepatitis C virus in the blood NOT_TRANSLATED -en nl HP:0410368 rdfs:label Increased globoside Gb3 level Increased globoside Gb3 level NOT_TRANSLATED -en nl HP:0410368 IAO:0000115 An abnormal increase in the concentration of glycolipid globoside Gb3 An abnormal increase in the concentration of glycolipid globoside Gb3 NOT_TRANSLATED -en nl HP:0410369 rdfs:label Increased hepatitis B virus antibody level Increased hepatitis B virus antibody level NOT_TRANSLATED -en nl HP:0410369 IAO:0000115 An abnormally increased level of immunoglobulin against hepatitis B virus in the blood An abnormally increased level of immunoglobulin against hepatitis B virus in the blood NOT_TRANSLATED -en nl HP:0410383 rdfs:label Abnormal proportion of effector memory CD8-positive, alpha-beta T cells Abnormal proportion of effector memory CD8-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410383 IAO:0000115 An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410380 rdfs:label Abnormal proportion of CD8-positive, alpha-beta memory T cells Abnormal proportion of CD8-positive, alpha-beta memory T cells NOT_TRANSLATED -en nl HP:0410380 IAO:0000115 An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED -en nl HP:0410381 rdfs:label Abnormal proportion of central memory CD4-positive, alpha-beta T cells Abnormal proportion of central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410381 IAO:0000115 An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410378 rdfs:label Decreased proportion of naive CD4 T cells Decreased proportion of naive CD4 T cells NOT_TRANSLATED -en nl HP:0410378 IAO:0000115 An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0410379 rdfs:label Abnormal proportion of CD4-positive, alpha-beta memory T cells Abnormal proportion of CD4-positive, alpha-beta memory T cells NOT_TRANSLATED -en nl HP:0410379 IAO:0000115 An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED -en nl HP:0410376 rdfs:label Increased proportion of naive CD8 T cells Increased proportion of naive CD8 T cells NOT_TRANSLATED -en nl HP:0410376 IAO:0000115 An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0410377 rdfs:label Decreased proportion of naive CD8 T cells Decreased proportion of naive CD8 T cells NOT_TRANSLATED -en nl HP:0410377 IAO:0000115 An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0410390 rdfs:label Decreased proportion of effector memory CD8-positive, alpha-beta T cells Decreased proportion of effector memory CD8-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410390 IAO:0000115 A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410391 rdfs:label Increased proportion of CD4-positive, alpha-beta memory T cells Increased proportion of CD4-positive, alpha-beta memory T cells NOT_TRANSLATED -en nl HP:0410391 IAO:0000115 An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED -en nl HP:0410388 rdfs:label Decreased proportion of central memory CD4-positive, alpha-beta T cells Decreased proportion of central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410388 IAO:0000115 A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410389 rdfs:label Decreased proportion of central memory CD8-positive, alpha-beta T cells Decreased proportion of central memory CD8-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410389 IAO:0000115 A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410386 rdfs:label Decreased proportion of CD4-positive, alpha-beta memory T cells Decreased proportion of CD4-positive, alpha-beta memory T cells NOT_TRANSLATED -en nl HP:0410386 IAO:0000115 Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED -en nl HP:0410384 rdfs:label Abnormal proportion of central memory CD8-positive, alpha-beta T cells Abnormal proportion of central memory CD8-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410384 IAO:0000115 An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410385 rdfs:label Decreased proportion of CD8-positive, alpha-beta memory T cells Decreased proportion of CD8-positive, alpha-beta memory T cells NOT_TRANSLATED -en nl HP:0410385 IAO:0000115 Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED -en nl HP:0410399 rdfs:label Positive blood lead test Positive blood lead test NOT_TRANSLATED -en nl HP:0410399 IAO:0000115 Detection of lead in the blood Detection of lead in the blood NOT_TRANSLATED -en nl HP:0410396 rdfs:label Increased proportion of central memory CD8-positive, alpha-beta T cells Increased proportion of central memory CD8-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410396 IAO:0000115 An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410397 rdfs:label Bronchiolectasis Bronchiolectasis NOT_TRANSLATED -en nl HP:0410397 IAO:0000115 Saccular dilatation of the terminal bronchioles Saccular dilatation of the terminal bronchioles NOT_TRANSLATED -en nl HP:0410394 rdfs:label Increased proportion of effector memory CD4-positive, alpha-beta T cells Increased proportion of effector memory CD4-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410394 IAO:0000115 An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410395 rdfs:label Increased proportion of effector memory CD8-positive, alpha-beta T cells Increased proportion of effector memory CD8-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410395 IAO:0000115 An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410392 rdfs:label Increased proportion of CD8-positive, alpha-beta memory T cells Increased proportion of CD8-positive, alpha-beta memory T cells NOT_TRANSLATED -en nl HP:0410392 IAO:0000115 An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED -en nl HP:0410393 rdfs:label Increased proportion of central memory CD4-positive, alpha-beta T cells Increased proportion of central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED -en nl HP:0410393 IAO:0000115 An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0410400 rdfs:label Absent sebaceous glands Absent sebaceous glands NOT_TRANSLATED -en nl HP:0410400 IAO:0000115 Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts NOT_TRANSLATED -en nl HP:0410401 rdfs:label Worse in evening Worse in evening NOT_TRANSLATED -en nl HP:0410401 IAO:0000115 Applies to a sign or symptom that is exacerbated in the evening as compared to the day Applies to a sign or symptom that is exacerbated in the evening as compared to the day NOT_TRANSLATED -en nl HP:3000045 rdfs:label Abnormality of genioglossus muscle Afwijking van musculus genioglossus CANDIDATE -en nl HP:3000045 IAO:0000115 An abnormality of a genioglossus muscle An abnormality of a genioglossus muscle NOT_TRANSLATED -en nl HP:3000044 rdfs:label Abnormality of frontal process of maxilla Afwijking van processus frontalis van maxilla CANDIDATE -en nl HP:3000044 IAO:0000115 An abnormality of a frontal process of the maxilla bone An abnormality of a frontal process of the maxilla bone NOT_TRANSLATED -en nl HP:3000047 rdfs:label Abnormal glossopharyngeal nerve morphology Morfologische afwijking van de nervus glossopharyngeus CANDIDATE -en nl HP:3000047 IAO:0000115 Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX) Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX) NOT_TRANSLATED -en nl HP:3000046 rdfs:label Abnormal geniohyoid muscle morphology Afwijking van musculus geniohyoideus CANDIDATE -en nl HP:3000046 IAO:0000115 An abnormality of a geniohyoid muscle An abnormality of a geniohyoid muscle NOT_TRANSLATED -en nl HP:3000041 rdfs:label Abnormality of external carotid artery Afwijking van arteria carotis externa CANDIDATE -en nl HP:3000041 IAO:0000115 An abnormality of an external carotid artery An abnormality of an external carotid artery NOT_TRANSLATED -en nl HP:3000040 rdfs:label Abnormality of ethmoid sinus Afwijking van sinus ethmoidalis CANDIDATE -en nl HP:3000040 IAO:0000115 An abnormality of an ethmoid sinus An abnormality of an ethmoid sinus NOT_TRANSLATED -en nl HP:3000043 rdfs:label Abnormal facial vein morphology Afwijkende faciale ader morfologie CANDIDATE -en nl HP:3000043 IAO:0000115 An abnormality of a facial vein An abnormality of a facial vein NOT_TRANSLATED -en nl HP:3000042 rdfs:label Abnormal jugular vein morphology Afwijkende vena jugularis morfologie CANDIDATE -en nl HP:3000042 IAO:0000115 Any structural abnormality of a jugular vein Any structural abnormality of a jugular vein NOT_TRANSLATED -en nl HP:3000037 rdfs:label Abnormal neck blood vessel morphology Afwijking van nek bloedvat CANDIDATE -en nl HP:3000037 IAO:0000115 An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck NOT_TRANSLATED -en nl HP:3000036 rdfs:label Abnormal head blood vessel morphology Afwijking van hoofd bloedvat CANDIDATE -en nl HP:3000036 IAO:0000115 An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head NOT_TRANSLATED -en nl HP:3000039 rdfs:label Abnormality of dorsal nasal artery Afwijking van de arteria dorsalis nasi CANDIDATE -en nl HP:3000039 IAO:0000115 An abnormality of a dorsal nasal artery An abnormality of a dorsal nasal artery NOT_TRANSLATED -en nl HP:3000038 rdfs:label Abnormal cricoid cartilage morphology Afwijking van cricoïd kraakbeen CANDIDATE -en nl HP:3000038 IAO:0000115 Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx NOT_TRANSLATED -en nl HP:3000033 rdfs:label Abnormal nasopharyngeal adenoid morphology Afwijking van nasofaryngeale adenoïden CANDIDATE -en nl HP:3000033 IAO:0000115 Any abnormality of nasopharyngeal adenoids Any abnormality of nasopharyngeal adenoids NOT_TRANSLATED -en nl HP:3000032 rdfs:label Abnormality of central retinal artery Afwijking van arteria centralis retinae CANDIDATE -en nl HP:3000032 IAO:0000115 An abnormality of a central retinal artery An abnormality of a central retinal artery NOT_TRANSLATED -en nl HP:3000035 rdfs:label Abnormality of cervical plexus Afwijking van cervicale plexus CANDIDATE -en nl HP:3000035 IAO:0000115 Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck NOT_TRANSLATED -en nl HP:3000034 rdfs:label Abnormality nasal septum cartilage morphology Afwijking van het kraakbeen van het septum nasi CANDIDATE -en nl HP:3000034 IAO:0000115 An abnormality of a cartilage of nasal septum An abnormality of a cartilage of nasal septum NOT_TRANSLATED -en nl HP:3000061 rdfs:label Abnormality of infra-orbital nerve Afwijking van de infra-orbitale zenuw CANDIDATE -en nl HP:3000061 IAO:0000115 A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal NOT_TRANSLATED -en nl HP:3000060 rdfs:label Abnormal infraorbital artery morphology Afwijking van infra-orbitale arterie CANDIDATE -en nl HP:3000060 IAO:0000115 An abnormality of an infraorbital artery An abnormality of an infraorbital artery NOT_TRANSLATED -en nl HP:3000063 rdfs:label Abnormality of internal jugular vein Afwijking van vena jugularis interna CANDIDATE -en nl HP:3000063 IAO:0000115 An abnormality of an internal jugular vein An abnormality of an internal jugular vein NOT_TRANSLATED -en nl HP:3000062 rdfs:label Abnormal internal carotid artery morphology Afwijkende arteria carotis interna morfologie CANDIDATE -en nl HP:3000062 IAO:0000115 An abnormality of an internal carotid artery An abnormality of an internal carotid artery NOT_TRANSLATED -en nl HP:3000057 rdfs:label Abnormality of inferior oblique extraocular muscle Afwijking van musculus obliquus inferior bulbi CANDIDATE -en nl HP:3000057 IAO:0000115 An abnormality of an inferior oblique extraocular muscle An abnormality of an inferior oblique extraocular muscle NOT_TRANSLATED -en nl HP:3000056 rdfs:label Abnormality of artery of lower lip Afwijking van arterie van de onderlip CANDIDATE -en nl HP:3000056 IAO:0000115 An abnormality of an artery of lower lip An abnormality of an artery of lower lip NOT_TRANSLATED -en nl HP:3000059 rdfs:label Abnormal inferior thyroid vein morphology Afwijkende vena thyreoidea inferior morfologie CANDIDATE -en nl HP:3000059 IAO:0000115 An abnormality of an inferior thyroid vein An abnormality of an inferior thyroid vein NOT_TRANSLATED -en nl HP:3000058 rdfs:label Abnormality of inferior rectus extraocular muscle Afwijking van musculus rectus inferior bulbi CANDIDATE -en nl HP:3000058 IAO:0000115 An abnormality of an inferior rectus extraocular muscle An abnormality of an inferior rectus extraocular muscle NOT_TRANSLATED -en nl HP:3000053 rdfs:label Abnormal hypopharynx morphology Afwijking van hypofarynx CANDIDATE -en nl HP:3000053 IAO:0000115 A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus NOT_TRANSLATED -en nl HP:3000052 rdfs:label Abnormal hyoid bone morphology Afwijking van tongbeen CANDIDATE -en nl HP:3000052 IAO:0000115 Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra NOT_TRANSLATED -en nl HP:3000055 rdfs:label Abnormality of inferior alveolar nerve Afwijking van nervus alveolaris inferior CANDIDATE -en nl HP:3000055 IAO:0000115 An abnormality of an inferior alveolar nerve An abnormality of an inferior alveolar nerve NOT_TRANSLATED -en nl HP:3000054 rdfs:label Abnormal inferior alveolar artery morphology Afwijking van arteria alveolaris inferior CANDIDATE -en nl HP:3000054 IAO:0000115 An abnormality of an inferior alveolar artery An abnormality of an inferior alveolar artery NOT_TRANSLATED -en nl HP:3000049 rdfs:label Abnormal greater palatine artery morphology Afwijkende arteria palatina major morfologie CANDIDATE -en nl HP:3000049 IAO:0000115 An abnormality of a greater palatine artery An abnormality of a greater palatine artery NOT_TRANSLATED -en nl HP:3000048 rdfs:label Abnormal great auricular nerve morphology Afwijkende nervus auricularis magnus morfologie CANDIDATE -en nl HP:3000048 IAO:0000115 Any structural anomaly of a great auricular nerve Any structural anomaly of a great auricular nerve NOT_TRANSLATED -en nl HP:3000051 rdfs:label Abnormal hyoglossus muscle morphology Afwijking van de musculus hyoglossus CANDIDATE -en nl HP:3000051 IAO:0000115 An abnormality of a hyoglossus muscle An abnormality of a hyoglossus muscle NOT_TRANSLATED -en nl HP:3000050 rdfs:label Abnormal odontoid tissue morphology Afwijking van odontoid weefsel CANDIDATE -en nl HP:3000050 IAO:0000115 An abnormality of an odontoid tissue An abnormality of an odontoid tissue NOT_TRANSLATED -en nl HP:3000013 rdfs:label Abnormal platysma muscle morphology Afwijking van platysma CANDIDATE -en nl HP:3000013 IAO:0000115 An abnormality of the platysma muscle An abnormality of the platysma muscle NOT_TRANSLATED -en nl HP:3000012 rdfs:label Abnormality of palatopharyngeus muscle Afwijking van musculus palatofaryngeus CANDIDATE -en nl HP:3000012 IAO:0000115 An abnormality of a palatopharyngeus muscle An abnormality of a palatopharyngeus muscle NOT_TRANSLATED -en nl HP:3000015 rdfs:label Abnormality of risorius muscle Afwijking van musculus risorius CANDIDATE -en nl HP:3000015 IAO:0000115 An abnormality of a risorius muscle An abnormality of a risorius muscle NOT_TRANSLATED -en nl HP:3000014 rdfs:label Abnormality of procerus muscle Afwijking van musculus procerus CANDIDATE -en nl HP:3000014 IAO:0000115 An abnormality of a procerus An abnormality of a procerus NOT_TRANSLATED -en nl HP:3000009 rdfs:label Abnormality of nasalis muscle Afwijking van musculus nasalis CANDIDATE -en nl HP:3000009 IAO:0000115 An abnormality of a nasalis muscle An abnormality of a nasalis muscle NOT_TRANSLATED -en nl HP:3000008 rdfs:label Abnormality of mylohyoid muscle Afwijking van musculus mylohyoideus CANDIDATE -en nl HP:3000008 IAO:0000115 An abnormality of a mylohyoid muscle An abnormality of a mylohyoid muscle NOT_TRANSLATED -en nl HP:3000011 rdfs:label Abnormality of palatoglossus muscle Afwijking van musculus palatoglossus CANDIDATE -en nl HP:3000011 IAO:0000115 An abnormality of a palatoglossus muscle An abnormality of a palatoglossus muscle NOT_TRANSLATED -en nl HP:3000010 rdfs:label Abnormality of orbicularis oris muscle Afwijking van musculus orbicularis oris CANDIDATE -en nl HP:3000010 IAO:0000115 An abnormality of an orbicularis oris muscle An abnormality of an orbicularis oris muscle NOT_TRANSLATED -en nl HP:3000005 rdfs:label Abnormality of masseter muscle Afwijking van musculus masseter CANDIDATE -en nl HP:3000005 IAO:0000115 An abnormality of a masseter muscle An abnormality of a masseter muscle NOT_TRANSLATED -en nl HP:3000004 rdfs:label Abnormality of frontalis muscle belly Afwijking van musculus frontalis CANDIDATE -en nl HP:3000004 IAO:0000115 An abnormality of a frontalis muscle belly An abnormality of a frontalis muscle belly NOT_TRANSLATED -en nl HP:3000007 rdfs:label Abnormality of mentalis muscle Afwijking van musculus mentalis CANDIDATE -en nl HP:3000007 IAO:0000115 An abnormality of a mentalis muscle An abnormality of a mentalis muscle NOT_TRANSLATED -en nl HP:3000006 rdfs:label Abnormality of medial pterygoid muscle Afwijking van de musculus pterygoideus medialis CANDIDATE -en nl HP:3000006 IAO:0000115 An abnormality of a medial pterygoid muscle An abnormality of a medial pterygoid muscle NOT_TRANSLATED -en nl HP:3000003 rdfs:label Abnormal mandibular ramus morphology Afwijking van ramus mandibulae CANDIDATE -en nl HP:3000003 IAO:0000115 An abnormality of a mandibular ramus An abnormality of a mandibular ramus NOT_TRANSLATED -en nl HP:3000002 rdfs:label Abnormal inner ear epithelium morphology Afwijkende binnenoor epitheel morfologie CANDIDATE -en nl HP:3000002 IAO:0000115 Any structural anomaly of an inner ear epithelium Any structural anomaly of an inner ear epithelium NOT_TRANSLATED -en nl HP:3000029 rdfs:label Abnormality of depressor labii inferioris Afwijking van musculus depressor labii inferioris CANDIDATE -en nl HP:3000029 IAO:0000115 An abnormality of a depressor labii inferioris An abnormality of a depressor labii inferioris NOT_TRANSLATED -en nl HP:3000028 rdfs:label Abnormality of depressor anguli oris muscle Afwijking van musculus depressor anguli oris CANDIDATE -en nl HP:3000028 IAO:0000115 An abnormality of a depressor anguli oris muscle An abnormality of a depressor anguli oris muscle NOT_TRANSLATED -en nl HP:3000031 rdfs:label Abnormality of anterior ethmoidal artery Afwijking van arteria ethmoidalis anterior CANDIDATE -en nl HP:3000031 IAO:0000115 An abnormality of an anterior ethmoidal artery An abnormality of an anterior ethmoidal artery NOT_TRANSLATED -en nl HP:3000030 rdfs:label Abnormal morphology of bony orbit of skull Afwijking van oogkas CANDIDATE -en nl HP:3000030 IAO:0000115 An abnormality of an orbit of skull An abnormality of an orbit of skull NOT_TRANSLATED -en nl HP:3000025 rdfs:label Abnormality of ciliary ganglion Afwijking van ciliair ganglion CANDIDATE -en nl HP:3000025 IAO:0000115 An abnormality of a ciliary ganglion An abnormality of a ciliary ganglion NOT_TRANSLATED -en nl HP:3000024 rdfs:label Abnormal facial artery morphology Afwijkende arteria facialis morfologie CANDIDATE -en nl HP:3000024 IAO:0000115 Any structural abnormality of a facial artery, one of the branches of the external carotid artery Any structural abnormality of a facial artery, one of the branches of the external carotid artery NOT_TRANSLATED -en nl HP:3000027 rdfs:label Abnormality of buccinator muscle Afwijking van musculus buccinator CANDIDATE -en nl HP:3000027 IAO:0000115 An abnormality of a buccinator muscle An abnormality of a buccinator muscle NOT_TRANSLATED -en nl HP:3000021 rdfs:label Abnormal buccal fat pad morphology Abnormal buccal fat pad morphology NOT_TRANSLATED -en nl HP:3000021 IAO:0000115 An abnormality of a buccal fat pad An abnormality of a buccal fat pad NOT_TRANSLATED -en nl HP:3000020 rdfs:label Abnormality of zygomaticus minor muscle Afwijking van musculus zygomaticus minor CANDIDATE -en nl HP:3000020 IAO:0000115 An abnormality of a zygomaticus minor muscle An abnormality of a zygomaticus minor muscle NOT_TRANSLATED -en nl HP:3000023 rdfs:label Abnormality of angular artery Afwijking van arteria angularis CANDIDATE -en nl HP:3000023 IAO:0000115 An abnormality of the angular artery, the terminal branch of the facial artery An abnormality of the angular artery, the terminal branch of the facial artery NOT_TRANSLATED -en nl HP:3000022 rdfs:label Abnormality of cartilage of external ear Afwijking van het kraakbeen van het externe oor CANDIDATE -en nl HP:3000022 IAO:0000115 An abnormality of a cartilage of external ear An abnormality of a cartilage of external ear NOT_TRANSLATED -en nl HP:3000017 rdfs:label Abnormality of temporalis muscle Afwijking van de musculus temporalis CANDIDATE -en nl HP:3000017 IAO:0000115 An abnormality of a temporalis muscle An abnormality of a temporalis muscle NOT_TRANSLATED -en nl HP:3000016 rdfs:label Abnormality of styloglossus muscle Afwijking van musculus styloglossus CANDIDATE -en nl HP:3000016 IAO:0000115 An abnormality of the styloglossus muscle An abnormality of the styloglossus muscle NOT_TRANSLATED -en nl HP:3000019 rdfs:label Abnormal buccal mucosa morphology Afwijking van buccale mucosa CANDIDATE -en nl HP:3000019 IAO:0000115 An abnormality of a buccal mucosa An abnormality of a buccal mucosa NOT_TRANSLATED -en nl HP:3000018 rdfs:label Abnormality of zygomaticus major muscle Afwijking van musculus zygomaticus major CANDIDATE -en nl HP:3000018 IAO:0000115 An abnormality of a zygomaticus major muscle An abnormality of a zygomaticus major muscle NOT_TRANSLATED -en nl HP:3000077 rdfs:label Abnormal mandible condylar process morphology Afwijking van de processus condylaris mandibulae CANDIDATE -en nl HP:3000077 IAO:0000115 An abnormality of a mandible condylar process An abnormality of a mandible condylar process NOT_TRANSLATED -en nl HP:3000076 rdfs:label Abnormality of lingual tonsil Afwijking van de tonsilla lingualis CANDIDATE -en nl HP:3000076 IAO:0000115 An abnormality of a lingual tonsil An abnormality of a lingual tonsil NOT_TRANSLATED -en nl HP:3000079 rdfs:label Abnormal mandibular symphysis morphology Afwijking van symphysis mandibulae CANDIDATE -en nl HP:3000079 IAO:0000115 A structural abnormality of a mandibular symphysis A structural abnormality of a mandibular symphysis NOT_TRANSLATED -en nl HP:3000078 rdfs:label Abnormal mandible coronoid process morphology Afwijking van de processus coronoideus mandibulae CANDIDATE -en nl HP:3000078 IAO:0000115 An abnormality of a mandible coronoid process An abnormality of a mandible coronoid process NOT_TRANSLATED -en nl HP:3000073 rdfs:label Abnormality of levator veli palatini muscle Afwijking van de musculus levator veli palatini CANDIDATE -en nl HP:3000073 IAO:0000115 An abnormality of a levator veli palatini An abnormality of a levator veli palatini NOT_TRANSLATED -en nl HP:3000072 rdfs:label Abnormal levator palpebrae superioris morphology Afwijking van de musculus levator palpebrae superioris CANDIDATE -en nl HP:3000072 IAO:0000115 An abnormality of a levator palpebrae superioris An abnormality of a levator palpebrae superioris NOT_TRANSLATED -en nl HP:3000075 rdfs:label Abnormal lingual nerve morphology Afwijkende nervus lingualis morfologie CANDIDATE -en nl HP:3000075 IAO:0000115 Any structural anomaly of a lingual nerve Any structural anomaly of a lingual nerve NOT_TRANSLATED -en nl HP:3000074 rdfs:label Abnormal lingual artery morphology Afwijkende arteria lingualis morfologie CANDIDATE -en nl HP:3000074 IAO:0000115 Any structural abnormality of a lingual artery Any structural abnormality of a lingual artery NOT_TRANSLATED -en nl HP:3000069 rdfs:label Abnormality of lateral rectus extra-ocular muscle Afwijking van musculus rectus lateralis bulbi CANDIDATE -en nl HP:3000069 IAO:0000115 An abnormality of a lateral rectus extra-ocular muscle An abnormality of a lateral rectus extra-ocular muscle NOT_TRANSLATED -en nl HP:3000068 rdfs:label Abnormality of lateral pterygoid muscle Afwijking van de musculus pterygoideus lateralis CANDIDATE -en nl HP:3000068 IAO:0000115 An abnormality of a lateral pterygoid muscle An abnormality of a lateral pterygoid muscle NOT_TRANSLATED -en nl HP:3000071 rdfs:label Abnormality of levator labii superioris Afwijking van de musculus levator labii superioris CANDIDATE -en nl HP:3000071 IAO:0000115 An abnormality of a levator labii superioris An abnormality of a levator labii superioris NOT_TRANSLATED -en nl HP:3000070 rdfs:label Abnormality of levator anguli oris Afwijking van musculus levator anguli oris CANDIDATE -en nl HP:3000070 IAO:0000115 An abnormality of a levator anguli oris An abnormality of a levator anguli oris NOT_TRANSLATED -en nl HP:3000065 rdfs:label Abnormal lacrimal artery morphology Afwijkende arteria lacrimalis morfologie CANDIDATE -en nl HP:3000065 IAO:0000115 An abnormality of a lacrimal artery An abnormality of a lacrimal artery NOT_TRANSLATED -en nl HP:3000064 rdfs:label Abnormality of intrinsic muscle of tongue Afwijking van de intrinsieke tongspieren CANDIDATE -en nl HP:3000064 IAO:0000115 An abnormality of an intrinsic muscle of tongue An abnormality of an intrinsic muscle of tongue NOT_TRANSLATED -en nl HP:3000067 rdfs:label Abnormal lateral cricoarytenoid muscle morphology Afwijking van laterale cricoarytenoid CANDIDATE -en nl HP:3000067 IAO:0000115 Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway NOT_TRANSLATED -en nl HP:3000066 rdfs:label Abnormal lacrimal sac morphology Afwijkende traanzak morfologie CANDIDATE -en nl HP:3000066 IAO:0000115 An abnormality of a lacrimal sac An abnormality of a lacrimal sac NOT_TRANSLATED -en nl HP:5000012 rdfs:label Anti-Gephyrin antibody Anti-Gephyrin antibody NOT_TRANSLATED -en nl HP:5000012 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin NOT_TRANSLATED -en nl HP:5000013 rdfs:label Anti-GFAP antibody Anti-GFAP antibody NOT_TRANSLATED -en nl HP:5000013 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP) NOT_TRANSLATED -en nl HP:5000014 rdfs:label Anti-GlyR antibody Anti-GlyR antibody NOT_TRANSLATED -en nl HP:5000014 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR) NOT_TRANSLATED -en nl HP:5000015 rdfs:label Anti-Homer-3 antibody Anti-Homer-3 antibody NOT_TRANSLATED -en nl HP:5000015 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3 NOT_TRANSLATED -en nl HP:5000008 rdfs:label Anti-FGFR3 antibody positivity Anti-FGFR3 antibody positivity NOT_TRANSLATED -en nl HP:5000008 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3 NOT_TRANSLATED -en nl HP:5000009 rdfs:label Anti-GABA(A)R antibody Anti-GABA(A)R antibody NOT_TRANSLATED -en nl HP:5000009 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R NOT_TRANSLATED -en nl HP:5000010 rdfs:label Anti-GABA(B)R antibody Anti-GABA(B)R antibody NOT_TRANSLATED -en nl HP:5000010 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R NOT_TRANSLATED -en nl HP:5000011 rdfs:label Anti-GAD65 antibody Anti-GAD65 antibody NOT_TRANSLATED -en nl HP:5000011 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65) NOT_TRANSLATED -en nl HP:5000004 rdfs:label Anti-CARP VIII antibody Anti-CARP VIII antibody NOT_TRANSLATED -en nl HP:5000004 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII) NOT_TRANSLATED -en nl HP:5000005 rdfs:label Anti-CASPR2 Anti-CASPR2 NOT_TRANSLATED -en nl HP:5000005 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2) NOT_TRANSLATED -en nl HP:5000006 rdfs:label Anti-CV2/CRMP5 antibody positivity Anti-CV2/CRMP5 antibody positivity NOT_TRANSLATED -en nl HP:5000006 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum NOT_TRANSLATED -en nl HP:5000007 rdfs:label Anti-DPPX antibody Anti-DPPX antibody NOT_TRANSLATED -en nl HP:5000007 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX) NOT_TRANSLATED -en nl HP:5000000 rdfs:label Anti-AK5 antibody positivity Anti-AK5 antibody positivity NOT_TRANSLATED -en nl HP:5000000 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5) NOT_TRANSLATED -en nl HP:5000001 rdfs:label Anti-AMPAR antibody positivity Anti-AMPAR antibody positivity NOT_TRANSLATED -en nl HP:5000001 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) NOT_TRANSLATED -en nl HP:5000002 rdfs:label Anti-Amphiphysin antibody Anti-Amphiphysin antibody NOT_TRANSLATED -en nl HP:5000002 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin NOT_TRANSLATED -en nl HP:5000003 rdfs:label Anti-ARHGAP26 antibody Anti-ARHGAP26 antibody NOT_TRANSLATED -en nl HP:5000003 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26) NOT_TRANSLATED -en nl HP:5000028 rdfs:label Anti-MAP1B antibody Anti-MAP1B antibody NOT_TRANSLATED -en nl HP:5000028 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B) NOT_TRANSLATED -en nl HP:5000029 rdfs:label Anti-PKCgamma antibody Anti-PKCgamma antibody NOT_TRANSLATED -en nl HP:5000029 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma NOT_TRANSLATED -en nl HP:5000030 rdfs:label Anti-Ri antibody Anti-Ri antibody NOT_TRANSLATED -en nl HP:5000030 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody NOT_TRANSLATED -en nl HP:5000031 rdfs:label Anti-Septin-5 antibody Anti-Septin-5 antibody NOT_TRANSLATED -en nl HP:5000031 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5 NOT_TRANSLATED -en nl HP:5000024 rdfs:label Anti-mGluR1 antibody Anti-mGluR1 antibody NOT_TRANSLATED -en nl HP:5000024 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1) NOT_TRANSLATED -en nl HP:5000025 rdfs:label Anti-mGluR5 antibody Anti-mGluR5 antibody NOT_TRANSLATED -en nl HP:5000025 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5) NOT_TRANSLATED -en nl HP:5000026 rdfs:label Anti-neurexin-3alpha antibody positivity Anti-neurexin-3alpha antibody positivity NOT_TRANSLATED -en nl HP:5000026 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha NOT_TRANSLATED -en nl HP:5000027 rdfs:label Anti-P/Q-type VGCC antibody positivity Anti-P/Q-type VGCC antibody positivity NOT_TRANSLATED -en nl HP:5000027 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs) NOT_TRANSLATED -en nl HP:5000020 rdfs:label Anti-LGI1 antibody Anti-LGI1 antibody NOT_TRANSLATED -en nl HP:5000020 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1) NOT_TRANSLATED -en nl HP:5000021 rdfs:label Anti-Ma antibody positivity Anti-Ma antibody positivity NOT_TRANSLATED -en nl HP:5000021 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma NOT_TRANSLATED -en nl HP:5000022 rdfs:label Anti-Ma2 antibody positivity Anti-Ma2 antibody positivity NOT_TRANSLATED -en nl HP:5000022 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2 NOT_TRANSLATED -en nl HP:5000023 rdfs:label Anti-Ma1 antibody positivity Anti-Ma1 antibody positivity NOT_TRANSLATED -en nl HP:5000023 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1 NOT_TRANSLATED -en nl HP:5000016 rdfs:label Anti-Hu antibody positivity Anti-Hu antibody positivity NOT_TRANSLATED -en nl HP:5000016 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu NOT_TRANSLATED -en nl HP:5000017 rdfs:label Anti-Iglon5 antibody Anti-Iglon5 antibody NOT_TRANSLATED -en nl HP:5000017 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5) NOT_TRANSLATED -en nl HP:5000018 rdfs:label Anti-ITPR1 antibody Anti-ITPR1 antibody NOT_TRANSLATED -en nl HP:5000018 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1) NOT_TRANSLATED -en nl HP:5000019 rdfs:label Anti-Kelch like protein 11 antibody positivity Anti-Kelch like protein 11 antibody positivity NOT_TRANSLATED -en nl HP:5000019 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11) NOT_TRANSLATED -en nl HP:5000044 rdfs:label Anti-GluK2 antibody Anti-GluK2 antibody NOT_TRANSLATED -en nl HP:5000044 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2) NOT_TRANSLATED -en nl HP:5000046 rdfs:label Anti-Lrp4 antibody positivity Anti-Lrp4 antibody positivity NOT_TRANSLATED -en nl HP:5000046 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4) NOT_TRANSLATED -en nl HP:5000047 rdfs:label Anti-ryanodine receptor antibody Anti-ryanodine receptor antibody NOT_TRANSLATED -en nl HP:5000047 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor NOT_TRANSLATED -en nl HP:5000042 rdfs:label Anti-Sj/ITPR1 antibody Anti-Sj/ITPR1 antibody NOT_TRANSLATED -en nl HP:5000042 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor NOT_TRANSLATED -en nl HP:5000043 rdfs:label Anti-D2 R antibody Anti-D2 R antibody NOT_TRANSLATED -en nl HP:5000043 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor NOT_TRANSLATED -en nl HP:5000036 rdfs:label Anti-TRIM9/TRIM67 antibody Anti-TRIM9/TRIM67 antibody NOT_TRANSLATED -en nl HP:5000036 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67 NOT_TRANSLATED -en nl HP:5000037 rdfs:label Anti-Yo antibody positivity Anti-Yo antibody positivity NOT_TRANSLATED -en nl HP:5000037 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo NOT_TRANSLATED -en nl HP:5000038 rdfs:label Anti-titin antibody positivity Anti-titin antibody positivity NOT_TRANSLATED -en nl HP:5000038 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin NOT_TRANSLATED -en nl HP:5000039 rdfs:label Anti-Zic4 antibody positivity Anti-Zic4 antibody positivity NOT_TRANSLATED -en nl HP:5000039 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4) NOT_TRANSLATED -en nl HP:5000032 rdfs:label Anti-SEZ6L2 antibody Anti-SEZ6L2 antibody NOT_TRANSLATED -en nl HP:5000032 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2) NOT_TRANSLATED -en nl HP:5000033 rdfs:label Anti-SOX1 antibody Anti-SOX1 antibody NOT_TRANSLATED -en nl HP:5000033 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells NOT_TRANSLATED -en nl HP:5000034 rdfs:label Anti-Tr/DNER antibody Anti-Tr/DNER antibody NOT_TRANSLATED -en nl HP:5000034 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr NOT_TRANSLATED -en nl HP:5000035 rdfs:label Anti-TRIM46 antibody Anti-TRIM46 antibody NOT_TRANSLATED -en nl HP:5000035 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46) The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46) NOT_TRANSLATED -en nl HP:5000048 rdfs:label Anti-Kv1.4 antibody Anti-Kv1.4 antibody NOT_TRANSLATED -en nl HP:5000048 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4 NOT_TRANSLATED -en nl HP:0020006 rdfs:label Ciliary body coloboma Straalvormig lichaam coloboom CANDIDATE -en nl HP:0020006 IAO:0000115 A coloboma of the ciliary body A coloboma of the ciliary body NOT_TRANSLATED -en nl HP:0020034 rdfs:label Diffuse Diffuus CANDIDATE -en nl HP:0020034 IAO:0000115 A spatial pattern that is spread out, i.e., not localized A spatial pattern that is spread out, i.e., not localized NOT_TRANSLATED -en nl HP:0020035 rdfs:label Lower limb dysmetria Onderste ledematen dysmetrie CANDIDATE -en nl HP:0020035 IAO:0000115 A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg NOT_TRANSLATED -en nl HP:0020036 rdfs:label Upper limb dysmetria Bovenste ledematen dysmetrie CANDIDATE -en nl HP:0020036 IAO:0000115 A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm NOT_TRANSLATED -en nl HP:0020037 rdfs:label Astasia Astasie CANDIDATE -en nl HP:0020037 IAO:0000115 A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength NOT_TRANSLATED -en nl HP:0020038 rdfs:label Vertebrobasilar dolichoectasia Vertebrobasilaire dolichoectasie CANDIDATE -en nl HP:0020038 IAO:0000115 Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm NOT_TRANSLATED -en nl HP:0020041 rdfs:label Double elevator palsy Double elevator palsy NOT_TRANSLATED -en nl HP:0020041 IAO:0000115 A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia NOT_TRANSLATED -en nl HP:0020042 rdfs:label Double depressor palsy Double depressor palsy NOT_TRANSLATED -en nl HP:0020042 IAO:0000115 An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye NOT_TRANSLATED -en nl HP:0020043 rdfs:label Vertical incomitant strabismus Verticaal incomitant strabismus CANDIDATE -en nl HP:0020043 IAO:0000115 A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards NOT_TRANSLATED -en nl HP:0020044 rdfs:label Horizontal incomitant strabismus Horizontaal incomitant strabismus CANDIDATE -en nl HP:0020045 rdfs:label Esodeviation Esodeviatie CANDIDATE -en nl HP:0020045 IAO:0000115 A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally NOT_TRANSLATED -en nl HP:0020046 rdfs:label Accommodative esotropia Accommodatieve esotropie CANDIDATE -en nl HP:0020046 IAO:0000115 A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex NOT_TRANSLATED -en nl HP:0020047 rdfs:label Abnormal myeloid cell morphology Afwijkende myeloïde cel morfologie CANDIDATE -en nl HP:0020047 IAO:0000115 Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage NOT_TRANSLATED -en nl HP:0020048 rdfs:label Reduced bone-marrow pro-B cell count Verminderd aantal beenmerg voorloper-B-cellen CANDIDATE -en nl HP:0020048 IAO:0000115 A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19 A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19 NOT_TRANSLATED -en nl HP:0020049 rdfs:label Exodeviation Exodeviatie CANDIDATE -en nl HP:0020049 IAO:0000115 A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally NOT_TRANSLATED -en nl HP:0020050 rdfs:label Anti-granulocyte-macrophage colony stimulating factor antibody positivity Anti-granulocyte-macrophage colony stimulating factor antibody positivity NOT_TRANSLATED -en nl HP:0020050 IAO:0000115 The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor NOT_TRANSLATED -en nl HP:0020054 rdfs:label Abnormal erythrocyte physiology Abnormal erythrocyte physiology NOT_TRANSLATED -en nl HP:0020054 IAO:0000115 Any functional abnormality of erythrocytes (red-blood cells) Any functional abnormality of erythrocytes (red-blood cells) NOT_TRANSLATED -en nl HP:0020058 rdfs:label Abnormal red blood cell count Abnormal red blood cell count NOT_TRANSLATED -en nl HP:0020058 IAO:0000115 Any deviation from the normal number of red blood cells per volume in the circulation Any deviation from the normal number of red blood cells per volume in the circulation NOT_TRANSLATED -en nl HP:0020059 rdfs:label Increased red blood cell count Increased red blood cell count NOT_TRANSLATED -en nl HP:0020059 IAO:0000115 An abnormal elevation above the normal number of red blood cells per volume in the circulation An abnormal elevation above the normal number of red blood cells per volume in the circulation NOT_TRANSLATED -en nl HP:0020060 rdfs:label Decreased red blood cell count Decreased red blood cell count NOT_TRANSLATED -en nl HP:0020060 IAO:0000115 An abnormal reduction below the normal number of red blood cells per volume in the circulation An abnormal reduction below the normal number of red blood cells per volume in the circulation NOT_TRANSLATED -en nl HP:0020061 rdfs:label Abnormal hemoglobin concentration Abnormal hemoglobin concentration NOT_TRANSLATED -en nl HP:0020061 IAO:0000115 Any deviation from the normal concentration of hemoglobin in the blood Any deviation from the normal concentration of hemoglobin in the blood NOT_TRANSLATED -en nl HP:0020062 rdfs:label Decreased hemoglobin concentration Decreased hemoglobin concentration NOT_TRANSLATED -en nl HP:0020062 IAO:0000115 An abnormal reduction below normal hemoglobin concentration in the circulation An abnormal reduction below normal hemoglobin concentration in the circulation NOT_TRANSLATED -en nl HP:0020063 rdfs:label Increased hemoglobin concentration Increased hemoglobin concentration NOT_TRANSLATED -en nl HP:0020063 IAO:0000115 An abnormal elevation above normal hemoglobin concentration in the circulation An abnormal elevation above normal hemoglobin concentration in the circulation NOT_TRANSLATED -en nl HP:0020064 rdfs:label Abnormal eosinophil count Abnormal eosinophil count NOT_TRANSLATED -en nl HP:0020064 IAO:0000115 Any deviation from the normal number of eosinophils per volume in the blood circulation Any deviation from the normal number of eosinophils per volume in the blood circulation NOT_TRANSLATED -en nl HP:0020071 rdfs:label Viremia Viremia NOT_TRANSLATED -en nl HP:0020071 IAO:0000115 The presence of virus in the blood The presence of virus in the blood NOT_TRANSLATED -en nl HP:0020072 rdfs:label Persistent EBV viremia Persistent EBV viremia NOT_TRANSLATED -en nl HP:0020072 IAO:0000115 Persistent presence of Epstein-Barr virus in the blood Persistent presence of Epstein-Barr virus in the blood NOT_TRANSLATED -en nl HP:0020073 rdfs:label Hypopigmented macule Hypopigmented macule NOT_TRANSLATED -en nl HP:0020073 IAO:0000115 A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation NOT_TRANSLATED -en nl HP:0020074 rdfs:label Crystalluria Crystalluria NOT_TRANSLATED -en nl HP:0020074 IAO:0000115 The presence of crystals in the urine The presence of crystals in the urine NOT_TRANSLATED -en nl HP:0020075 rdfs:label Leucine crystalluria Leucine crystalluria NOT_TRANSLATED -en nl HP:0020075 IAO:0000115 The presence of leuucine crystals in the urine The presence of leuucine crystals in the urine NOT_TRANSLATED -en nl HP:0020076 rdfs:label Wrist ganglion Wrist ganglion NOT_TRANSLATED -en nl HP:0020076 IAO:0000115 A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule NOT_TRANSLATED -en nl HP:0020077 rdfs:label Carnitinuria Carnitinuria NOT_TRANSLATED -en nl HP:0020077 IAO:0000115 An elevated level of carnitine in the urine An elevated level of carnitine in the urine NOT_TRANSLATED -en nl HP:0020078 rdfs:label Alaninuria Alaninuria NOT_TRANSLATED -en nl HP:0020078 IAO:0000115 An increased level of alanine in the urine An increased level of alanine in the urine NOT_TRANSLATED -en nl HP:0020079 rdfs:label Beta-alaninuria Beta-alaninuria NOT_TRANSLATED -en nl HP:0020079 IAO:0000115 An increased level of beta-alanine in the urine An increased level of beta-alanine in the urine NOT_TRANSLATED -en nl HP:0020080 rdfs:label Erythrocyte inclusion bodies Erythrocyte inclusion bodies NOT_TRANSLATED -en nl HP:0020080 IAO:0000115 Nuclear or cytoplasmic aggregates of substances in red blood cells Nuclear or cytoplasmic aggregates of substances in red blood cells NOT_TRANSLATED -en nl HP:0020081 rdfs:label Pappenheimer bodies Pappenheimer bodies NOT_TRANSLATED -en nl HP:0020081 IAO:0000115 A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain) A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain) NOT_TRANSLATED -en nl HP:0020082 rdfs:label Heinz bodies Heinz bodies NOT_TRANSLATED -en nl HP:0020082 IAO:0000115 A type of erythrocyte inclusion composed of denatured hemoglobin A type of erythrocyte inclusion composed of denatured hemoglobin NOT_TRANSLATED -en nl HP:0020083 rdfs:label Furuncle Furuncle NOT_TRANSLATED -en nl HP:0020083 IAO:0000115 An infection of a hair follicle that extends subcutaneously, forming an abscess An infection of a hair follicle that extends subcutaneously, forming an abscess NOT_TRANSLATED -en nl HP:0020084 rdfs:label Carbuncle Carbuncle NOT_TRANSLATED -en nl HP:0020084 IAO:0000115 A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle NOT_TRANSLATED -en nl HP:0020085 rdfs:label Infection following live vaccination Infection following live vaccination NOT_TRANSLATED -en nl HP:0020085 IAO:0000115 An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens NOT_TRANSLATED -en nl HP:0020086 rdfs:label BCGitis BCGitis NOT_TRANSLATED -en nl HP:0020086 IAO:0000115 Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination NOT_TRANSLATED -en nl HP:0020087 rdfs:label BCGosis BCGosis NOT_TRANSLATED -en nl HP:0020087 IAO:0000115 Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis NOT_TRANSLATED -en nl HP:0020088 rdfs:label Post-vaccination measles Post-vaccination measles NOT_TRANSLATED -en nl HP:0020088 IAO:0000115 Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases NOT_TRANSLATED -en nl HP:0020089 rdfs:label Post-vaccination rubella Post-vaccination rubella NOT_TRANSLATED -en nl HP:0020089 IAO:0000115 Infection with the rubella virus of the live-attenuated vaccine Infection with the rubella virus of the live-attenuated vaccine NOT_TRANSLATED -en nl HP:0020090 rdfs:label Post-vaccination polio Post-vaccination polio NOT_TRANSLATED -en nl HP:0020090 IAO:0000115 Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise NOT_TRANSLATED -en nl HP:0020091 rdfs:label Post-vaccination rotavirus infection Post-vaccination rotavirus infection NOT_TRANSLATED -en nl HP:0020091 IAO:0000115 Infection with live attenuated rotavirus vaccine following vaccination Infection with live attenuated rotavirus vaccine following vaccination NOT_TRANSLATED -en nl HP:0020093 rdfs:label Recurrent deep organ abscess formation Recurrent deep organ abscess formation NOT_TRANSLATED -en nl HP:0020093 IAO:0000115 Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ NOT_TRANSLATED -en nl HP:0020095 rdfs:label Prolonged need of intravenous antibiotic therapy Prolonged need of intravenous antibiotic therapy NOT_TRANSLATED -en nl HP:0020095 IAO:0000115 Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time NOT_TRANSLATED -en nl HP:0020096 rdfs:label Recurrent streptococcal infections Recurrent streptococcal infections NOT_TRANSLATED -en nl HP:0020096 IAO:0000115 Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections NOT_TRANSLATED -en nl HP:0020097 rdfs:label Infection due to encapsulated bacteria Infection due to encapsulated bacteria NOT_TRANSLATED -en nl HP:0020097 IAO:0000115 An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines NOT_TRANSLATED -en nl HP:0020099 rdfs:label Severe norovirus infection Severe norovirus infection NOT_TRANSLATED -en nl HP:0020099 IAO:0000115 An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals NOT_TRANSLATED -en nl HP:0020100 rdfs:label Unusual fungal infection Unusual fungal infection NOT_TRANSLATED -en nl HP:0020100 IAO:0000115 An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent NOT_TRANSLATED -en nl HP:0020101 rdfs:label Invasive fungal infection Invasive fungal infection NOT_TRANSLATED -en nl HP:0020101 IAO:0000115 Fungal infection characterized by invasion of host tissues Fungal infection characterized by invasion of host tissues NOT_TRANSLATED -en nl HP:0020102 rdfs:label Pneumocystis jirovecii pneumonia Pneumocystis jirovecii pneumonia NOT_TRANSLATED -en nl HP:0020102 IAO:0000115 An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing NOT_TRANSLATED -en nl HP:0020103 rdfs:label Invasive pulmonary aspergillosis Invasive pulmonary aspergillosis NOT_TRANSLATED -en nl HP:0020103 IAO:0000115 Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis NOT_TRANSLATED -en nl HP:0020104 rdfs:label Unusual protozoan infection Unusual protozoan infection NOT_TRANSLATED -en nl HP:0020104 IAO:0000115 An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent NOT_TRANSLATED -en nl HP:0020105 rdfs:label Severe toxoplasmosis Severe toxoplasmosis NOT_TRANSLATED -en nl HP:0020105 IAO:0000115 Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs) Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs) NOT_TRANSLATED -en nl HP:0020106 rdfs:label Severe giardiasis Severe giardiasis NOT_TRANSLATED -en nl HP:0020106 IAO:0000115 An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide NOT_TRANSLATED -en nl HP:0020107 rdfs:label Unusual helminthic infection Unusual helminthic infection NOT_TRANSLATED -en nl HP:0020107 IAO:0000115 An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth) An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth) NOT_TRANSLATED -en nl HP:0020108 rdfs:label Unusual parasitic infection Unusual parasitic infection NOT_TRANSLATED -en nl HP:0020108 IAO:0000115 An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite NOT_TRANSLATED -en nl HP:0020110 rdfs:label Bone fracture Bone fracture NOT_TRANSLATED -en nl HP:0020110 IAO:0000115 A partial or complete breakage of the continuity of a bone A partial or complete breakage of the continuity of a bone NOT_TRANSLATED -en nl HP:0020111 rdfs:label Abnormal CD4+CD25+ regulatory T cell proportion Abnormal CD4+CD25+ regulatory T cell proportion NOT_TRANSLATED -en nl HP:0020111 IAO:0000115 A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells NOT_TRANSLATED -en nl HP:0020112 rdfs:label Increased proportion of CD4+CD25+ regulatory T cells Increased proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED -en nl HP:0020112 IAO:0000115 An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells NOT_TRANSLATED -en nl HP:0020113 rdfs:label Decreased proportion of CD4+CD25+ regulatory T cells Decreased proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED -en nl HP:0020113 IAO:0000115 An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells NOT_TRANSLATED -en nl HP:0020114 rdfs:label Persistent human papillomavirus infection Persistent human papillomavirus infection NOT_TRANSLATED -en nl HP:0020114 IAO:0000115 Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease NOT_TRANSLATED -en nl HP:0020117 rdfs:label Hypoplastic dermoepidermal hemidesmosomes Hypoplastic dermoepidermal hemidesmosomes NOT_TRANSLATED -en nl HP:0020117 IAO:0000115 Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin NOT_TRANSLATED -en nl HP:0020118 rdfs:label Radial artery aplasia Radial artery aplasia NOT_TRANSLATED -en nl HP:0020118 IAO:0000115 Congenital absence of the radial artery Congenital absence of the radial artery NOT_TRANSLATED -en nl HP:0020119 rdfs:label Abnormal retinal nerve fiber layer morphology Abnormal retinal nerve fiber layer morphology NOT_TRANSLATED -en nl HP:0020119 IAO:0000115 A structural abnormality of the retinal nerve fiber layer A structural abnormality of the retinal nerve fiber layer NOT_TRANSLATED -en nl HP:0020120 rdfs:label Retinal nerve fiber edema Retinal nerve fiber edema NOT_TRANSLATED -en nl HP:0020120 IAO:0000115 Swelling (edema) of the retinal nerve fibers Swelling (edema) of the retinal nerve fibers NOT_TRANSLATED -en nl HP:0020121 rdfs:label Conception by assisted reproductive technology Conception by assisted reproductive technology NOT_TRANSLATED -en nl HP:0020121 IAO:0000115 A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation NOT_TRANSLATED -en nl HP:0020122 rdfs:label Bite cells Bite cells NOT_TRANSLATED -en nl HP:0020122 IAO:0000115 Red blood cells that appear to have parts of them bitten away Red blood cells that appear to have parts of them bitten away NOT_TRANSLATED -en nl HP:0020123 rdfs:label Tympanosclerosis Tympanosclerosis NOT_TRANSLATED -en nl HP:0020123 IAO:0000115 A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear NOT_TRANSLATED -en nl HP:0020125 rdfs:label Spontaneous conjunctival filtering bleb Spontaneous conjunctival filtering bleb NOT_TRANSLATED -en nl HP:0020125 IAO:0000115 Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma NOT_TRANSLATED -en nl HP:0020126 rdfs:label Prostate mass Prostate mass NOT_TRANSLATED -en nl HP:0020126 IAO:0000115 A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction NOT_TRANSLATED -en nl HP:0020127 rdfs:label Periarticular soft-tissue mass Periarticular soft-tissue mass NOT_TRANSLATED -en nl HP:0020127 IAO:0000115 A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction NOT_TRANSLATED -en nl HP:0020128 rdfs:label Aplasia of the olfactory tract Aplasia of the olfactory tract NOT_TRANSLATED -en nl HP:0020128 IAO:0000115 Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell NOT_TRANSLATED -en nl HP:0020129 rdfs:label Abnormal urine protein level Abnormal urine protein level NOT_TRANSLATED -en nl HP:0020129 IAO:0000115 Any deviation of the concentration of one or more proteins in the urine Any deviation of the concentration of one or more proteins in the urine NOT_TRANSLATED -en nl HP:0020130 rdfs:label Increased urinary neutrophil gelatinase-associated lipocalin Increased urinary neutrophil gelatinase-associated lipocalin NOT_TRANSLATED -en nl HP:0020130 IAO:0000115 An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter) An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter) NOT_TRANSLATED -en nl HP:0020131 rdfs:label Abnormal tubular basement membrane morphology Abnormal tubular basement membrane morphology NOT_TRANSLATED -en nl HP:0020131 IAO:0000115 Abnormal structure of the basement membrane of the renal tubulus Abnormal structure of the basement membrane of the renal tubulus NOT_TRANSLATED -en nl HP:0020132 rdfs:label Thickening of the tubular basement membrane Thickening of the tubular basement membrane NOT_TRANSLATED -en nl HP:0020132 IAO:0000115 Increase in thickness of the basement membrane of the tubulus of the kidney Increase in thickness of the basement membrane of the tubulus of the kidney NOT_TRANSLATED -en nl HP:0020133 rdfs:label Podocyte hypertrophy Podocyte hypertrophy NOT_TRANSLATED -en nl HP:0020133 IAO:0000115 Increased visceral epithelial cell size, with or without cytoplasmic protein droplets Increased visceral epithelial cell size, with or without cytoplasmic protein droplets NOT_TRANSLATED -en nl HP:0020134 rdfs:label Increased urine neutrophil count Increased urine neutrophil count NOT_TRANSLATED -en nl HP:0020134 IAO:0000115 Abnormally increased count of neutrophils in urine Abnormally increased count of neutrophils in urine NOT_TRANSLATED -en nl HP:0020135 rdfs:label Myofibromatosis Myofibromatosis NOT_TRANSLATED -en nl HP:0020135 IAO:0000115 A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance NOT_TRANSLATED -en nl HP:0020136 rdfs:label Anticardiolipin IgG antibody positivity Anticardiolipin IgG antibody positivity NOT_TRANSLATED -en nl HP:0020136 IAO:0000115 The presence of circulating IgG autoantibodies to cardiolipin The presence of circulating IgG autoantibodies to cardiolipin NOT_TRANSLATED -en nl HP:0020137 rdfs:label Anticardiolipin IgM antibody positivity Anticardiolipin IgM antibody positivity NOT_TRANSLATED -en nl HP:0020137 IAO:0000115 The presence of circulating IgM autoantibodies to cardiolipin The presence of circulating IgM autoantibodies to cardiolipin NOT_TRANSLATED -en nl HP:0020138 rdfs:label History of recent animal bite History of recent animal bite NOT_TRANSLATED -en nl HP:0020138 IAO:0000115 Medical history of a recent bite injury due to an animal Medical history of a recent bite injury due to an animal NOT_TRANSLATED -en nl HP:0020139 rdfs:label History of recent insect bite History of recent insect bite NOT_TRANSLATED -en nl HP:0020139 IAO:0000115 Medical history of a recent bite injury due to an insect Medical history of a recent bite injury due to an insect NOT_TRANSLATED -en nl HP:0020140 rdfs:label History of recent tick bite History of recent tick bite NOT_TRANSLATED -en nl HP:0020140 IAO:0000115 Medical history of a recent bite injury due to a tick Medical history of a recent bite injury due to a tick NOT_TRANSLATED -en nl HP:0020141 rdfs:label Blood pressure substantially higher in legs than arms Blood pressure substantially higher in legs than arms NOT_TRANSLATED -en nl HP:0020141 IAO:0000115 An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm NOT_TRANSLATED -en nl HP:0020142 rdfs:label Blood pressure substantially higher in arms than legs Blood pressure substantially higher in arms than legs NOT_TRANSLATED -en nl HP:0020142 IAO:0000115 An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm NOT_TRANSLATED -en nl HP:0020143 rdfs:label Tracheal duplication cyst Tracheal duplication cyst NOT_TRANSLATED -en nl HP:0020143 IAO:0000115 A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium NOT_TRANSLATED -en nl HP:0020144 rdfs:label Calcium phosphate crystalluria Calcium phosphate crystalluria NOT_TRANSLATED -en nl HP:0020144 IAO:0000115 The presence of calcium phosphate crystals in the urine The presence of calcium phosphate crystals in the urine NOT_TRANSLATED -en nl HP:0020145 rdfs:label Calcium oxalate crystalluria Calcium oxalate crystalluria NOT_TRANSLATED -en nl HP:0020145 IAO:0000115 The presence of calcium oxalate crystals in the urine The presence of calcium oxalate crystals in the urine NOT_TRANSLATED -en nl HP:0020146 rdfs:label Calcium carbonate crystalluria Calcium carbonate crystalluria NOT_TRANSLATED -en nl HP:0020146 IAO:0000115 The presence of calcium carbonate crystals in the urine The presence of calcium carbonate crystals in the urine NOT_TRANSLATED -en nl HP:0020147 rdfs:label 2-Methylbutyryl glycinuria 2-Methylbutyryl glycinuria NOT_TRANSLATED -en nl HP:0020147 IAO:0000115 Increased concentration of 2-methylbutyryl glycine in the urine Increased concentration of 2-methylbutyryl glycine in the urine NOT_TRANSLATED -en nl HP:0020148 rdfs:label Increased circulating mead acid level Increased circulating mead acid level NOT_TRANSLATED -en nl HP:0020148 IAO:0000115 An abnormally elevated concentration od mead acid in the blood circulation An abnormally elevated concentration od mead acid in the blood circulation NOT_TRANSLATED -en nl HP:0020149 rdfs:label Elevated circulating succinate Elevated circulating succinate NOT_TRANSLATED -en nl HP:0020149 IAO:0000115 An increase concentration of succinate in the blood circulation An increase concentration of succinate in the blood circulation NOT_TRANSLATED -en nl HP:0020150 rdfs:label Elevated urinary uromodulin Elevated urinary uromodulin NOT_TRANSLATED -en nl HP:0020150 IAO:0000115 An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine NOT_TRANSLATED -en nl HP:0020151 rdfs:label Anti-dsDNA antibody positivity Anti-dsDNA antibody positivity NOT_TRANSLATED -en nl HP:0020151 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA NOT_TRANSLATED -en nl HP:0020152 rdfs:label Distal joint laxity Distal joint laxity NOT_TRANSLATED -en nl HP:0020152 IAO:0000115 Lack of stability of a distal joint (e.g., finger) Lack of stability of a distal joint (e.g., finger) NOT_TRANSLATED -en nl HP:0020153 rdfs:label Positive blood 1,3 beta glucan test Positive blood 1,3 beta glucan test NOT_TRANSLATED -en nl HP:0020153 IAO:0000115 Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis NOT_TRANSLATED -en nl HP:0020154 rdfs:label Nevus comedonicus Nevus comedonicus NOT_TRANSLATED -en nl HP:0020154 IAO:0000115 A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones NOT_TRANSLATED -en nl HP:0020155 rdfs:label Abnormal oocyte morphology Abnormal oocyte morphology NOT_TRANSLATED -en nl HP:0020155 IAO:0000115 An abnormal structure of the female germ cell (egg cell) An abnormal structure of the female germ cell (egg cell) NOT_TRANSLATED -en nl HP:0020156 rdfs:label Abnormal zona pellucida morphology Abnormal zona pellucida morphology NOT_TRANSLATED -en nl HP:0020156 IAO:0000115 Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida NOT_TRANSLATED -en nl HP:0020157 rdfs:label Thin zona pellucida Thin zona pellucida NOT_TRANSLATED -en nl HP:0020157 IAO:0000115 Reduced thickness of the zona pellucida Reduced thickness of the zona pellucida NOT_TRANSLATED -en nl HP:0020158 rdfs:label Increased circulating adrenic acid concentration Increased circulating adrenic acid concentration NOT_TRANSLATED -en nl HP:0020158 IAO:0000115 An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation NOT_TRANSLATED -en nl HP:0020159 rdfs:label Reduced response to gonadotropin-releasing hormone stimulation test Reduced response to gonadotropin-releasing hormone stimulation test NOT_TRANSLATED -en nl HP:0020159 IAO:0000115 Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels NOT_TRANSLATED -en nl HP:0020160 rdfs:label GM1-ganglioside accumulation GM1-ganglioside accumulation NOT_TRANSLATED -en nl HP:0020160 IAO:0000115 Cellular accumulation of GM1 gangliosides Cellular accumulation of GM1 gangliosides NOT_TRANSLATED -en nl HP:0020161 rdfs:label Branch retinal artery occlusion Branch retinal artery occlusion NOT_TRANSLATED -en nl HP:0020161 IAO:0000115 Blockage of a branch of the retinal artery. This can cause loss of a section of visual field Blockage of a branch of the retinal artery. This can cause loss of a section of visual field NOT_TRANSLATED -en nl HP:0020163 rdfs:label Cilioretinal artery occlusion Cilioretinal artery occlusion NOT_TRANSLATED -en nl HP:0020163 IAO:0000115 Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers NOT_TRANSLATED -en nl HP:0020164 rdfs:label Ophthalmic artery occlusion Ophthalmic artery occlusion NOT_TRANSLATED -en nl HP:0020164 IAO:0000115 A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs NOT_TRANSLATED -en nl HP:0020165 rdfs:label Branch retinal vein occlusion Branch retinal vein occlusion NOT_TRANSLATED -en nl HP:0020165 IAO:0000115 Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels NOT_TRANSLATED -en nl HP:0020166 rdfs:label Central retinal vein occlusion Central retinal vein occlusion NOT_TRANSLATED -en nl HP:0020166 IAO:0000115 Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis NOT_TRANSLATED -en nl HP:0020167 rdfs:label Hemiretinal vein occlusion Hemiretinal vein occlusion NOT_TRANSLATED -en nl HP:0020167 IAO:0000115 A variant of central retinal vein occlusions that involves the superior or inferior half of the retina A variant of central retinal vein occlusions that involves the superior or inferior half of the retina NOT_TRANSLATED -en nl HP:0020169 rdfs:label Abnormal drug response Abnormal drug response NOT_TRANSLATED -en nl HP:0020169 IAO:0000115 An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy NOT_TRANSLATED -en nl HP:0020170 rdfs:label Increased blood drug concentration Increased blood drug concentration NOT_TRANSLATED -en nl HP:0020170 IAO:0000115 High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime NOT_TRANSLATED -en nl HP:0020171 rdfs:label Decreased blood drug concentration Decreased blood drug concentration NOT_TRANSLATED -en nl HP:0020171 IAO:0000115 Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime NOT_TRANSLATED -en nl HP:0020172 rdfs:label Adverse drug response Adverse drug response NOT_TRANSLATED -en nl HP:0020172 IAO:0000115 An unpleasant or harmful reaction resulting from treatment with a drug An unpleasant or harmful reaction resulting from treatment with a drug NOT_TRANSLATED -en nl HP:0020173 rdfs:label Reduced drug efficacy Reduced drug efficacy NOT_TRANSLATED -en nl HP:0020173 IAO:0000115 Decreased response to a drug intervention in comparison to the expected response Decreased response to a drug intervention in comparison to the expected response NOT_TRANSLATED -en nl HP:0020174 rdfs:label Refractory drug response Refractory drug response NOT_TRANSLATED -en nl HP:0020174 IAO:0000115 Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course NOT_TRANSLATED -en nl HP:0020175 rdfs:label Reduced cholinesterase level Reduced cholinesterase level NOT_TRANSLATED -en nl HP:0020175 IAO:0000115 A decreased amount of cholinesterase in the blood circulation A decreased amount of cholinesterase in the blood circulation NOT_TRANSLATED -en nl HP:0020176 rdfs:label Cholesterol crystalluria Cholesterol crystalluria NOT_TRANSLATED -en nl HP:0020177 rdfs:label Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells NOT_TRANSLATED -en nl HP:0020177 IAO:0000115 An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative NOT_TRANSLATED -en nl HP:0020178 rdfs:label Abnormal dendritic cell count Abnormal dendritic cell count NOT_TRANSLATED -en nl HP:0020178 IAO:0000115 A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative) A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative) NOT_TRANSLATED -en nl HP:0020179 rdfs:label Abnormal haptoglobin level Abnormal haptoglobin level NOT_TRANSLATED -en nl HP:0020179 IAO:0000115 A deviation from the normal concentration of haptoglobin in the blood circulation A deviation from the normal concentration of haptoglobin in the blood circulation NOT_TRANSLATED -en nl HP:0020180 rdfs:label Elevated haptoglobin level Elevated haptoglobin level NOT_TRANSLATED -en nl HP:0020180 IAO:0000115 An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation NOT_TRANSLATED -en nl HP:0020181 rdfs:label Reduced haptoglobin level Reduced haptoglobin level NOT_TRANSLATED -en nl HP:0020181 IAO:0000115 An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state NOT_TRANSLATED -en nl HP:0020182 rdfs:label Abnormal A-type atrial natriuretic peptide level Abnormal A-type atrial natriuretic peptide level NOT_TRANSLATED -en nl HP:0020182 IAO:0000115 A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure NOT_TRANSLATED -en nl HP:0020183 rdfs:label Increased circulating A-type natriuretic peptide level Increased circulating A-type natriuretic peptide level NOT_TRANSLATED -en nl HP:0020183 IAO:0000115 A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure NOT_TRANSLATED -en nl HP:0020184 rdfs:label Decreased circulating A-type natriuretic peptide level Decreased circulating A-type natriuretic peptide level NOT_TRANSLATED -en nl HP:0020184 IAO:0000115 A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure NOT_TRANSLATED -en nl HP:0020185 rdfs:label Superior cerebellar dysplasia Superior cerebellar dysplasia NOT_TRANSLATED -en nl HP:0020185 IAO:0000115 Abnormal morphological development of the superior part of the cerebellum Abnormal morphological development of the superior part of the cerebellum NOT_TRANSLATED -en nl HP:0020186 rdfs:label Multilobulated spleen Multilobulated spleen NOT_TRANSLATED -en nl HP:0020186 IAO:0000115 The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen NOT_TRANSLATED -en nl HP:0020187 rdfs:label Thick pachygyria Thick pachygyria NOT_TRANSLATED -en nl HP:0020187 IAO:0000115 Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age NOT_TRANSLATED -en nl HP:0020188 rdfs:label Anterior predominant pachygyria with 5-10 mm cortical thickness Anterior predominant pachygyria with 5-10 mm cortical thickness NOT_TRANSLATED -en nl HP:0020188 IAO:0000115 Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED -en nl HP:0020189 rdfs:label Posterior predominant thick cortex pachygyria Posterior predominant thick cortex pachygyria NOT_TRANSLATED -en nl HP:0020189 IAO:0000115 Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED -en nl HP:0020190 rdfs:label Perisylvian predominant thick cortex pachygyria Perisylvian predominant thick cortex pachygyria NOT_TRANSLATED -en nl HP:0020190 IAO:0000115 Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED -en nl HP:0020191 rdfs:label Anterior predominant thick cortex pachygyria Anterior predominant thick cortex pachygyria NOT_TRANSLATED -en nl HP:0020191 IAO:0000115 Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes NOT_TRANSLATED -en nl HP:0020192 rdfs:label Pachygyria with 5-10 mm cortical thickness Pachygyria with 5-10 mm cortical thickness NOT_TRANSLATED -en nl HP:0020192 IAO:0000115 Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age NOT_TRANSLATED -en nl HP:0020193 rdfs:label Prolonged reptilase time Prolonged reptilase time NOT_TRANSLATED -en nl HP:0020193 IAO:0000115 An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds NOT_TRANSLATED -en nl HP:0020194 rdfs:label IgA heavy chain paraproteinemia IgA heavy chain paraproteinemia NOT_TRANSLATED -en nl HP:0020194 IAO:0000115 An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED -en nl HP:0020195 rdfs:label IgG heavy chain paraproteinemia IgG heavy chain paraproteinemia NOT_TRANSLATED -en nl HP:0020195 IAO:0000115 An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED -en nl HP:0020196 rdfs:label IgM heavy chain paraproteinemia IgM heavy chain paraproteinemia NOT_TRANSLATED -en nl HP:0020196 IAO:0000115 An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED -en nl HP:0020197 rdfs:label Increased circulating arachidonic acid concentration Increased circulating arachidonic acid concentration NOT_TRANSLATED -en nl HP:0020197 IAO:0000115 An increased circulation of arachidonic acid in the blood circulation An increased circulation of arachidonic acid in the blood circulation NOT_TRANSLATED -en nl HP:0020198 rdfs:label Abnormal circulating 18-hydroxycorticosterone level Abnormal circulating 18-hydroxycorticosterone level NOT_TRANSLATED -en nl HP:0020198 IAO:0000115 Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation NOT_TRANSLATED -en nl HP:0020199 rdfs:label Decreased circulating 18-hydroxycortisone level Decreased circulating 18-hydroxycortisone level NOT_TRANSLATED -en nl HP:0020199 IAO:0000115 A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation NOT_TRANSLATED -en nl HP:0020200 rdfs:label Increased circulating 18-hydroxycortisone level Increased circulating 18-hydroxycortisone level NOT_TRANSLATED -en nl HP:0020200 IAO:0000115 An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation NOT_TRANSLATED -en nl HP:0020201 rdfs:label Abnormal sarcomere morphology Abnormal sarcomere morphology NOT_TRANSLATED -en nl HP:0020201 IAO:0000115 Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs NOT_TRANSLATED -en nl HP:0020202 rdfs:label Abnormal Z disc morphology Abnormal Z disc morphology NOT_TRANSLATED -en nl HP:0020202 IAO:0000115 Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached NOT_TRANSLATED -en nl HP:0020203 rdfs:label Z-band streaming Z-band streaming NOT_TRANSLATED -en nl HP:0020203 IAO:0000115 Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change NOT_TRANSLATED -en nl HP:0020204 rdfs:label Tubulointerstitial bacterial infiltration Tubulointerstitial bacterial infiltration NOT_TRANSLATED -en nl HP:0020204 IAO:0000115 Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains NOT_TRANSLATED -en nl HP:0020205 rdfs:label Tubulointerstitial fungal infiltration Tubulointerstitial fungal infiltration NOT_TRANSLATED -en nl HP:0020205 IAO:0000115 Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains NOT_TRANSLATED -en nl HP:0020206 rdfs:label Simple ear Simple ear NOT_TRANSLATED -en nl HP:0020206 IAO:0000115 The pinna has fewer folds and grooves than usual The pinna has fewer folds and grooves than usual NOT_TRANSLATED -en nl HP:0020207 rdfs:label Reflex seizure Reflex seizure NOT_TRANSLATED -en nl HP:0020207 IAO:0000115 Seizures precipitated by exogenous stimuli Seizures precipitated by exogenous stimuli NOT_TRANSLATED -en nl HP:0020208 rdfs:label Eating-induced seizure Eating-induced seizure NOT_TRANSLATED -en nl HP:0020208 IAO:0000115 A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period NOT_TRANSLATED -en nl HP:0020209 rdfs:label Hot water-induced seizure Hot water-induced seizure NOT_TRANSLATED -en nl HP:0020209 IAO:0000115 A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger NOT_TRANSLATED -en nl HP:0020210 rdfs:label Praxis-induced seizure Praxis-induced seizure NOT_TRANSLATED -en nl HP:0020210 IAO:0000115 A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making NOT_TRANSLATED -en nl HP:0020211 rdfs:label Proprioceptive-induced seizure Proprioceptive-induced seizure NOT_TRANSLATED -en nl HP:0020211 IAO:0000115 A seizure precipitated by movement or a change in posture A seizure precipitated by movement or a change in posture NOT_TRANSLATED -en nl HP:0020212 rdfs:label Reading-induced seizure Reading-induced seizure NOT_TRANSLATED -en nl HP:0020212 IAO:0000115 A seizure precipitated by reading A seizure precipitated by reading NOT_TRANSLATED -en nl HP:0020213 rdfs:label Somatosensory-induced seizure Somatosensory-induced seizure NOT_TRANSLATED -en nl HP:0020213 IAO:0000115 A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise NOT_TRANSLATED -en nl HP:0020214 rdfs:label Startle-induced seizure Startle-induced seizure NOT_TRANSLATED -en nl HP:0020214 IAO:0000115 Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus NOT_TRANSLATED -en nl HP:0020215 rdfs:label Thinking-induced seizure Thinking-induced seizure NOT_TRANSLATED -en nl HP:0020215 IAO:0000115 Seizures induced by thinking and decision-making.ncomment: Seizures induced by thinking and decision-making.ncomment: NOT_TRANSLATED -en nl HP:0020216 rdfs:label Visually-induced seizure Visually-induced seizure NOT_TRANSLATED -en nl HP:0020216 IAO:0000115 Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect NOT_TRANSLATED -en nl HP:0020217 rdfs:label Focal aware motor seizure Focal aware motor seizure NOT_TRANSLATED -en nl HP:0020217 IAO:0000115 A type of focal motor seizure in which awareness is retained throughout the seizure A type of focal motor seizure in which awareness is retained throughout the seizure NOT_TRANSLATED -en nl HP:0020218 rdfs:label Focal aware atonic seizure Focal aware atonic seizure NOT_TRANSLATED -en nl HP:0020218 IAO:0000115 A type of focal atonic seizure during which awareness is fully retained throughout A type of focal atonic seizure during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0020219 rdfs:label Motor seizure Motor seizure NOT_TRANSLATED -en nl HP:0020219 IAO:0000115 A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement NOT_TRANSLATED -en nl HP:0020220 rdfs:label Focal atonic seizure Focal atonic seizure NOT_TRANSLATED -en nl HP:0020220 IAO:0000115 A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature NOT_TRANSLATED -en nl HP:0020221 rdfs:label Clonic seizure Clonic seizure NOT_TRANSLATED -en nl HP:0020221 IAO:0000115 A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive NOT_TRANSLATED -en nl HP:0020222 rdfs:label Hypohomocysteinemia Hypohomocysteinemia NOT_TRANSLATED -en nl HP:0020222 IAO:0000115 A decreased concentration of homocystine in the blood A decreased concentration of homocystine in the blood NOT_TRANSLATED -en nl HP:0020223 rdfs:label Dermal sinus tract Dermal sinus tract NOT_TRANSLATED -en nl HP:0020223 IAO:0000115 A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region NOT_TRANSLATED -en nl HP:0025004 rdfs:label Hallux rigidus Hallux rigidus CANDIDATE -en nl HP:0025004 IAO:0000115 Osteoarthritis of the metatarsophalangeal joint of the first toe Osteoarthritis of the metatarsophalangeal joint of the first toe NOT_TRANSLATED -en nl HP:0025005 rdfs:label Thickening of glomerular capillary wall Verdikking van de glomerulaire capillaire muur CANDIDATE -en nl HP:0025005 IAO:0000115 Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself NOT_TRANSLATED -en nl HP:0025006 rdfs:label Abnormal glomerular capillary morphology Afwijkende glomerulaire capillaire morfologie CANDIDATE -en nl HP:0025006 IAO:0000115 A structural anomaly of the capillary blood vessels in the renal glomerulus A structural anomaly of the capillary blood vessels in the renal glomerulus NOT_TRANSLATED -en nl HP:0025007 rdfs:label Ectopic fovea Ectopische fovea CANDIDATE -en nl HP:0025007 IAO:0000115 An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina NOT_TRANSLATED -en nl HP:0025008 rdfs:label Tracheal tug on inspiration Tracheal tug on inspiration NOT_TRANSLATED -en nl HP:0025008 IAO:0000115 Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree NOT_TRANSLATED -en nl HP:0025009 rdfs:label Forward slanting upper incisors Voorwaarts schuine bovenste snijtanden CANDIDATE -en nl HP:0025009 IAO:0000115 The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards NOT_TRANSLATED -en nl HP:0025010 rdfs:label Foveal atrophy Foveale atrofie CANDIDATE -en nl HP:0025010 IAO:0000115 Partial or complete loss of foveal tissue that was once present Partial or complete loss of foveal tissue that was once present NOT_TRANSLATED -en nl HP:0025011 rdfs:label Pyriform aperture stenosis Stenose van de apertura piriformis CANDIDATE -en nl HP:0025011 IAO:0000115 Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose NOT_TRANSLATED -en nl HP:0025012 rdfs:label Status cribrosum Status cribrosum NOT_TRANSLATED -en nl HP:0025012 IAO:0000115 Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations NOT_TRANSLATED -en nl HP:0025013 rdfs:label Decerebrate rigidity Decerebrate rigidity NOT_TRANSLATED -en nl HP:0025013 IAO:0000115 A type of rigidity that is manifested by an exaggerated extensor posture of all extremities A type of rigidity that is manifested by an exaggerated extensor posture of all extremities NOT_TRANSLATED -en nl HP:0025014 rdfs:label Subcutaneous spheroids Subcutaneous spheroids NOT_TRANSLATED -en nl HP:0025014 IAO:0000115 Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray NOT_TRANSLATED -en nl HP:0025015 rdfs:label Abnormal vascular morphology Afwijkende vasculaire morfologie CANDIDATE -en nl HP:0025016 rdfs:label Abnormal capillary morphology Afwijkende capillaire morfologie CANDIDATE -en nl HP:0025016 IAO:0000115 A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues NOT_TRANSLATED -en nl HP:0025017 rdfs:label Capillary fragility Capillaire fragiliteit CANDIDATE -en nl HP:0025017 IAO:0000115 Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises) Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises) NOT_TRANSLATED -en nl HP:0025018 rdfs:label Abnormal capillary physiology Afwijkende capillaire fysiologie CANDIDATE -en nl HP:0025018 IAO:0000115 A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues NOT_TRANSLATED -en nl HP:0025019 rdfs:label Arterial rupture Arteriële ruptuur CANDIDATE -en nl HP:0025019 IAO:0000115 Sudden breakage of an artery leading to leakage of blood from the circulation Sudden breakage of an artery leading to leakage of blood from the circulation NOT_TRANSLATED -en nl HP:0025020 rdfs:label Elevated prostate-specific antigen level Verhoogd PSA niveau CANDIDATE -en nl HP:0025020 IAO:0000115 An increased concentration of prostate specific antigen (PSA) in the circulation An increased concentration of prostate specific antigen (PSA) in the circulation NOT_TRANSLATED -en nl HP:0025021 rdfs:label Abnormal erythrocyte sedimentation rate Afwijkende bezinkingssnelheid van de erytrocyten CANDIDATE -en nl HP:0025021 IAO:0000115 A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling NOT_TRANSLATED -en nl HP:0025022 rdfs:label Decreased erythrocyte sedimentation rate Afgenomen bezinkingssnelheid van de erytrocyten CANDIDATE -en nl HP:0025022 IAO:0000115 A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling NOT_TRANSLATED -en nl HP:0025023 rdfs:label Rectal atresia Rectale atresie CANDIDATE -en nl HP:0025023 IAO:0000115 A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum NOT_TRANSLATED -en nl HP:0025024 rdfs:label Megarectum Megarectum CANDIDATE -en nl HP:0025024 IAO:0000115 An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum NOT_TRANSLATED -en nl HP:0025025 rdfs:label Rectovestibular fistula Rectovestibulaire fistel CANDIDATE -en nl HP:0025025 IAO:0000115 A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening NOT_TRANSLATED -en nl HP:0025026 rdfs:label H-type rectovestibular fistula H-type rectovestibulaire fistel CANDIDATE -en nl HP:0025026 IAO:0000115 Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract NOT_TRANSLATED -en nl HP:0025027 rdfs:label Osteoma cutis Osteoma cutis CANDIDATE -en nl HP:0025027 IAO:0000115 The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin NOT_TRANSLATED -en nl HP:0025028 rdfs:label Abnormality of enteric nervous system morphology Afwijking van enterische zenuwstelsel morfologie CANDIDATE -en nl HP:0025028 IAO:0000115 A structural anomaly of nerves of the enteric nervous system A structural anomaly of nerves of the enteric nervous system NOT_TRANSLATED -en nl HP:0025029 rdfs:label Abnormality of enteric neuron morphology Afwijking van enterisch neuron morfologie CANDIDATE -en nl HP:0025030 rdfs:label Enteric neuronal degeneration Enterische neuronale degeneratie CANDIDATE -en nl HP:0025030 IAO:0000115 Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons NOT_TRANSLATED -en nl HP:0025031 rdfs:label Abnormality of the digestive system Afwijking van het digestieve systeem CANDIDATE -en nl HP:0025032 rdfs:label Abnormality of digestive system physiology Afwijking van digestieve systeem fysiologie CANDIDATE -en nl HP:0025032 IAO:0000115 A functional anomaly of the digestive system A functional anomaly of the digestive system NOT_TRANSLATED -en nl HP:0025033 rdfs:label Abnormality of digestive system morphology Afwijking van de digestieve morfologie CANDIDATE -en nl HP:0025033 IAO:0000115 A structural anomaly of the digestive system A structural anomaly of the digestive system NOT_TRANSLATED -en nl HP:0025034 rdfs:label Abnormal morphology of erythroid progenitor cell Afwijkende morfologie van erytroïde progenitorcel CANDIDATE -en nl HP:0025034 IAO:0000115 Abnormal form of the progenitor cells committed to the erythroid lineage Abnormal form of the progenitor cells committed to the erythroid lineage NOT_TRANSLATED -en nl HP:0025035 rdfs:label Abnormal proerythroblast morphology Afwijkende pro-erythroblast morfologie CANDIDATE -en nl HP:0025035 IAO:0000115 Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers NOT_TRANSLATED -en nl HP:0025037 rdfs:label Hypothalamic gliosis Hypothalame gliose CANDIDATE -en nl HP:0025037 IAO:0000115 Focal proliferation of glial cells in the hypothalamus Focal proliferation of glial cells in the hypothalamus NOT_TRANSLATED -en nl HP:0025038 rdfs:label Intratesticular abscess Intratesticulair abces CANDIDATE -en nl HP:0025038 IAO:0000115 A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins NOT_TRANSLATED -en nl HP:0025039 rdfs:label Basal ganglia edema Basale ganglia oedeem CANDIDATE -en nl HP:0025039 IAO:0000115 Swelling within the basal ganglia due to the accumulation of fluid Swelling within the basal ganglia due to the accumulation of fluid NOT_TRANSLATED -en nl HP:0025040 rdfs:label Thalamic edema Thalamus oedeem CANDIDATE -en nl HP:0025040 IAO:0000115 Swelling within the thalamus due to the accumulation of fluid Swelling within the thalamus due to the accumulation of fluid NOT_TRANSLATED -en nl HP:0025041 rdfs:label Thalamic calcification Thalamus calcificatie CANDIDATE -en nl HP:0025041 IAO:0000115 Calcium deposition in the thalamus Calcium deposition in the thalamus NOT_TRANSLATED -en nl HP:0025042 rdfs:label Abnormality of mesenteric lymph nodes Afwijking van de mesenterische lymfeknopen CANDIDATE -en nl HP:0025042 IAO:0000115 A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery NOT_TRANSLATED -en nl HP:0025043 rdfs:label Enlarged mesenteric lymph node Vergrote mesenterische lymfeknopen CANDIDATE -en nl HP:0025043 IAO:0000115 Increase in size of one or more mesenteric lymph nodes Increase in size of one or more mesenteric lymph nodes NOT_TRANSLATED -en nl HP:0025044 rdfs:label Lung abscess Long abces CANDIDATE -en nl HP:0025044 IAO:0000115 A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity NOT_TRANSLATED -en nl HP:0025045 rdfs:label Abnormal brain lactate level by MRS Afwijkend brein lactaat niveau met MRS CANDIDATE -en nl HP:0025045 IAO:0000115 A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025046 rdfs:label Reduced brain lactate level by MRS Afgenomen brein lactaat niveau met MRS CANDIDATE -en nl HP:0025046 IAO:0000115 A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025047 rdfs:label Abnormal brain choline level by MRS Afwijkend brein choline niveau met MRS CANDIDATE -en nl HP:0025047 IAO:0000115 A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025048 rdfs:label Reduced brain choline level by MRS Afgenomen brein choline niveau met MRS CANDIDATE -en nl HP:0025048 IAO:0000115 An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025049 rdfs:label Abnormal brain creatine level by MRS Afwijkend brein creatine niveau met MRS CANDIDATE -en nl HP:0025050 rdfs:label Elevated brain creatine level by MRS Toegenomen brein creatine niveau met MRS CANDIDATE -en nl HP:0025050 IAO:0000115 An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025051 rdfs:label Reduced brain creatine level by MRS Afgenomen brein creatine niveau met MRS CANDIDATE -en nl HP:0025051 IAO:0000115 A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025052 rdfs:label Abnormal brain N-acetyl aspartate level by MRS Afwijkend brein N-acetylaspartaat niveau met MRS CANDIDATE -en nl HP:0025052 IAO:0000115 A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025053 rdfs:label Elevated brain N-acetyl aspartate level by MRS Verhoogd brein N-acetylaspartaat niveau met MRS CANDIDATE -en nl HP:0025053 IAO:0000115 An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025057 rdfs:label Abnormality of olfactory lobe morphology Afwijking van bulbus olfactorius morfologie CANDIDATE -en nl HP:0025057 IAO:0000115 A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell NOT_TRANSLATED -en nl HP:0025058 rdfs:label Hypothalamic atrophy Hypothalame atrofie CANDIDATE -en nl HP:0025058 IAO:0000115 Partial or complete wasting (loss) of hypothalamus tissue that was once present Partial or complete wasting (loss) of hypothalamus tissue that was once present NOT_TRANSLATED -en nl HP:0025059 rdfs:label Splenic abscess Milt abces CANDIDATE -en nl HP:0025059 IAO:0000115 A circumscribed area of pus or necrotic debris in the parenchyma of the spleen A circumscribed area of pus or necrotic debris in the parenchyma of the spleen NOT_TRANSLATED -en nl HP:0025060 rdfs:label Multifocal splenic abscess Multifocale milt abcessen CANDIDATE -en nl HP:0025060 IAO:0000115 Multiple abscess lesions in the spleen Multiple abscess lesions in the spleen NOT_TRANSLATED -en nl HP:0025061 rdfs:label Unifocal splenic abscess Unifocale milt abcessen CANDIDATE -en nl HP:0025061 IAO:0000115 Single (solitary) abscess in the spleen Single (solitary) abscess in the spleen NOT_TRANSLATED -en nl HP:0025062 rdfs:label Geophagia Geofagie CANDIDATE -en nl HP:0025062 IAO:0000115 The practice of eating earth or soil-like substrates such as clay or chalk The practice of eating earth or soil-like substrates such as clay or chalk NOT_TRANSLATED -en nl HP:0025063 rdfs:label Scaphoid abdomen Scaphoid abdomen NOT_TRANSLATED -en nl HP:0025063 IAO:0000115 The anterior abdominal wall is sunken and presents a concave rather than a convex contour The anterior abdominal wall is sunken and presents a concave rather than a convex contour NOT_TRANSLATED -en nl HP:0025064 rdfs:label Thalamic hemorrhage Thalamus bloeding CANDIDATE -en nl HP:0025064 IAO:0000115 Bleeding in the thalamus Bleeding in the thalamus NOT_TRANSLATED -en nl HP:0025065 rdfs:label Abnormal mean corpuscular volume Afwijkend erytrocyt volume CANDIDATE -en nl HP:0025065 IAO:0000115 A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters NOT_TRANSLATED -en nl HP:0025066 rdfs:label Decreased mean corpuscular volume Afgenomen MPV CANDIDATE -en nl HP:0025066 IAO:0000115 A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters) A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters) NOT_TRANSLATED -en nl HP:0025068 rdfs:label Incomitant strabismus Incomitant strabismus CANDIDATE -en nl HP:0025068 IAO:0000115 Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort NOT_TRANSLATED -en nl HP:0025069 rdfs:label Concomitant strabismus Concomitant strabismus CANDIDATE -en nl HP:0025069 IAO:0000115 Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing NOT_TRANSLATED -en nl HP:0025070 rdfs:label Abnormal U wave Afwijkende U-golf CANDIDATE -en nl HP:0025070 IAO:0000115 An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3 An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3 NOT_TRANSLATED -en nl HP:0025071 rdfs:label U wave inversion Inversie van de U-golf CANDIDATE -en nl HP:0025071 IAO:0000115 Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves NOT_TRANSLATED -en nl HP:0025072 rdfs:label Prominent U wave Prominente U-golf CANDIDATE -en nl HP:0025072 IAO:0000115 Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave NOT_TRANSLATED -en nl HP:0025073 rdfs:label Exercise-induced U wave inversion Inspanning-geïnduceerde U golf inversie CANDIDATE -en nl HP:0025073 IAO:0000115 U wave inversion that is induced by exercise stress testing U wave inversion that is induced by exercise stress testing NOT_TRANSLATED -en nl HP:0025074 rdfs:label Abnormal QRS complex Afwijkend QRS complex CANDIDATE -en nl HP:0025074 IAO:0000115 An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram NOT_TRANSLATED -en nl HP:0025075 rdfs:label Increased QRS voltage Toegenomen QRS voltage CANDIDATE -en nl HP:0025075 IAO:0000115 Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm) Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm) NOT_TRANSLATED -en nl HP:0025076 rdfs:label Abnormal QRS voltage Afwijkend QRS voltage CANDIDATE -en nl HP:0025076 IAO:0000115 Abnormal amplitude of the QRS complex of the electrocardiogram (EKG) Abnormal amplitude of the QRS complex of the electrocardiogram (EKG) NOT_TRANSLATED -en nl HP:0025077 rdfs:label Decreased QRS voltage Afgenomen QRS voltage CANDIDATE -en nl HP:0025077 IAO:0000115 Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm NOT_TRANSLATED -en nl HP:0025078 rdfs:label Electrical alternans Elektrische alternans CANDIDATE -en nl HP:0025078 IAO:0000115 The QRS complexes of the electrocardiogram alternate in height The QRS complexes of the electrocardiogram alternate in height NOT_TRANSLATED -en nl HP:0025079 rdfs:label Pancreatic abscess Pancreatisch abces CANDIDATE -en nl HP:0025079 IAO:0000115 A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas NOT_TRANSLATED -en nl HP:0025080 rdfs:label Orthokeratotic hyperkeratosis Orthokeratotische hyperkeratose CANDIDATE -en nl HP:0025080 IAO:0000115 A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei NOT_TRANSLATED -en nl HP:0025081 rdfs:label Darier's sign Teken van Darier CANDIDATE -en nl HP:0025081 IAO:0000115 A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP NOT_TRANSLATED -en nl HP:0025082 rdfs:label Abnormal cutaneous elastic fiber morphology Afwijkende cutane elastische vezels morfologie CANDIDATE -en nl HP:0025082 IAO:0000115 Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils NOT_TRANSLATED -en nl HP:0025083 rdfs:label Elevated dermal desmosine content Verhoogde dermale desmosine inhoud CANDIDATE -en nl HP:0025083 IAO:0000115 An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin NOT_TRANSLATED -en nl HP:0025084 rdfs:label Folliculitis Folliculitis CANDIDATE -en nl HP:0025084 IAO:0000115 Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule NOT_TRANSLATED -en nl HP:0025085 rdfs:label Bloody diarrhea Bloederige diarree CANDIDATE -en nl HP:0025085 IAO:0000115 Passage of many stools containing blood Passage of many stools containing blood NOT_TRANSLATED -en nl HP:0025086 rdfs:label Bloody mucoid diarrhea Bloederige mucoïde diarree CANDIDATE -en nl HP:0025086 IAO:0000115 Passage of many stools containing blood and mucus Passage of many stools containing blood and mucus NOT_TRANSLATED -en nl HP:0025087 rdfs:label Delayed recoil upon stretching of skin Vertraagde terugslag na het oprekken van de huid CANDIDATE -en nl HP:0025087 IAO:0000115 Area of skin requiring an increased amount of time to return to its original shape after being stretched Area of skin requiring an increased amount of time to return to its original shape after being stretched NOT_TRANSLATED -en nl HP:0025088 rdfs:label Onychomadesis Onychomadesis CANDIDATE -en nl HP:0025088 IAO:0000115 Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth NOT_TRANSLATED -en nl HP:0025089 rdfs:label Feculent vomiting Fecaal braken CANDIDATE -en nl HP:0025089 IAO:0000115 Vomiting of material that is of fecal origin Vomiting of material that is of fecal origin NOT_TRANSLATED -en nl HP:0025090 rdfs:label Abnormal large intestinal mucosa morphology Afwijkende dikke darm mucosa morfologie CANDIDATE -en nl HP:0025090 IAO:0000115 A structural anomaly of the mucous lining of the large intestine A structural anomaly of the mucous lining of the large intestine NOT_TRANSLATED -en nl HP:0025092 rdfs:label Epidermal acanthosis Epidermale acanthose CANDIDATE -en nl HP:0025092 IAO:0000115 Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin) Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin) NOT_TRANSLATED -en nl HP:0025093 rdfs:label Peripapillary exudate Peripapillair exsudaat CANDIDATE -en nl HP:0025093 IAO:0000115 A retinal exudate in the area surrounding the optic nerve head A retinal exudate in the area surrounding the optic nerve head NOT_TRANSLATED -en nl HP:0025094 rdfs:label Disciform macular scar Discusvormig macula litteken CANDIDATE -en nl HP:0025094 IAO:0000115 A subretinal scar with a disc-like shape in the region of the macula A subretinal scar with a disc-like shape in the region of the macula NOT_TRANSLATED -en nl HP:0025095 rdfs:label Sneeze Nies CANDIDATE -en nl HP:0025095 IAO:0000115 A sudden violent, spasmodic, audible expiration of breath through the nose and mouth A sudden violent, spasmodic, audible expiration of breath through the nose and mouth NOT_TRANSLATED -en nl HP:0025096 rdfs:label Paroxysmal sneezing Paroxysmaal niezen CANDIDATE -en nl HP:0025096 IAO:0000115 Unprovoked explosive pathological sneezing Unprovoked explosive pathological sneezing NOT_TRANSLATED -en nl HP:0025097 rdfs:label Eyelid myoclonus Ooglid myoclonus CANDIDATE -en nl HP:0025097 IAO:0000115 Marked, involuntary jerking of the eyelids Marked, involuntary jerking of the eyelids NOT_TRANSLATED -en nl HP:0025098 rdfs:label Dysgenesis of the hypothalamus Dysgenesie van de hypothalamu CANDIDATE -en nl HP:0025098 IAO:0000115 Structural abnormality of the hypothalamus related to defective development Structural abnormality of the hypothalamus related to defective development NOT_TRANSLATED -en nl HP:0025099 rdfs:label Dysgenesis of the thalamus Dysgenesie van de thalamus CANDIDATE -en nl HP:0025099 IAO:0000115 Structural abnormality of the thalamus related to defective development Structural abnormality of the thalamus related to defective development NOT_TRANSLATED -en nl HP:0025100 rdfs:label Abnormal hippocampus morphology Afwijkende morfologie van de hippocampus CANDIDATE -en nl HP:0025100 IAO:0000115 Any structural anomaly of the hippocampus, Any structural anomaly of the hippocampus, NOT_TRANSLATED -en nl HP:0025101 rdfs:label Dysgenesis of the hippocampus Dysgenesie van de hippocampus CANDIDATE -en nl HP:0025101 IAO:0000115 Structural abnormality of the hippocampus related to defective development Structural abnormality of the hippocampus related to defective development NOT_TRANSLATED -en nl HP:0025102 rdfs:label Dysgenesis of the basal ganglia Dysgenesie van basale ganglia CANDIDATE -en nl HP:0025102 IAO:0000115 Structural abnormality of the basal ganglia related to defective development Structural abnormality of the basal ganglia related to defective development NOT_TRANSLATED -en nl HP:0025103 rdfs:label Umbilicated nodule Umbilicated nodule NOT_TRANSLATED -en nl HP:0025103 IAO:0000115 A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated) A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated) NOT_TRANSLATED -en nl HP:0025104 rdfs:label Capillary malformation Capillaire malformatie CANDIDATE -en nl HP:0025104 IAO:0000115 A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules) A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules) NOT_TRANSLATED -en nl HP:0025105 rdfs:label Nevus anemicus Naevus anemicus CANDIDATE -en nl HP:0025105 IAO:0000115 A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots NOT_TRANSLATED -en nl HP:0025106 rdfs:label Nevus roseus Naevus roseus CANDIDATE -en nl HP:0025106 IAO:0000115 A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life NOT_TRANSLATED -en nl HP:0025107 rdfs:label Cutis marmorata telangiectatica congenita Cutis marmorata telangiectatica congenita CANDIDATE -en nl HP:0025107 IAO:0000115 A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible NOT_TRANSLATED -en nl HP:0025108 rdfs:label Angioma serpentinum Angioma serpentinum NOT_TRANSLATED -en nl HP:0025108 IAO:0000115 Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis NOT_TRANSLATED -en nl HP:0025109 rdfs:label Reduced red cell pyruvate kinase level Verminderde rode cel pyruvaat kinaseactiviteit CANDIDATE -en nl HP:0025109 IAO:0000115 Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate NOT_TRANSLATED -en nl HP:0025110 rdfs:label Placoid macular lesion Placoïde macula laesie CANDIDATE -en nl HP:0025110 IAO:0000115 Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula NOT_TRANSLATED -en nl HP:0025112 rdfs:label Sound sensitivity Geluidsgevoeligheid CANDIDATE -en nl HP:0025112 IAO:0000115 Decreased tolerance to sound Decreased tolerance to sound NOT_TRANSLATED -en nl HP:0025113 rdfs:label Misophonia Misofonie CANDIDATE -en nl HP:0025113 IAO:0000115 An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound NOT_TRANSLATED -en nl HP:0025114 rdfs:label Hypergranulosis Hypergranulose CANDIDATE -en nl HP:0025114 IAO:0000115 Hypergranulosis is an increased thickness of the stratum granulosum Hypergranulosis is an increased thickness of the stratum granulosum NOT_TRANSLATED -en nl HP:0025115 rdfs:label Civatte bodies Colloïdlichaampjes CANDIDATE -en nl HP:0025115 IAO:0000115 Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant NOT_TRANSLATED -en nl HP:0025116 rdfs:label Fetal distress Foetale nood CANDIDATE -en nl HP:0025116 IAO:0000115 An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile NOT_TRANSLATED -en nl HP:0025117 rdfs:label Rete ridge flattening Rete ridge flattening NOT_TRANSLATED -en nl HP:0025117 IAO:0000115 Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance NOT_TRANSLATED -en nl HP:0025118 rdfs:label Lip discoloration Verkleuring van de lip CANDIDATE -en nl HP:0025118 IAO:0000115 Lightening or darkening of the lips from their usual coloring Lightening or darkening of the lips from their usual coloring NOT_TRANSLATED -en nl HP:0025119 rdfs:label Violet lip discoloration Violet lip verkleuring CANDIDATE -en nl HP:0025119 IAO:0000115 An alteration of the color of the lip to take on a violet color. This term does not include cyanosis An alteration of the color of the lip to take on a violet color. This term does not include cyanosis NOT_TRANSLATED -en nl HP:0025122 rdfs:label Sawtooth acanthosis Zaagtand acanthose CANDIDATE -en nl HP:0025122 IAO:0000115 A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis NOT_TRANSLATED -en nl HP:0025123 rdfs:label White streaks/specks on enamel Witte strepen/vlekjes op glazuur CANDIDATE -en nl HP:0025123 IAO:0000115 Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks NOT_TRANSLATED -en nl HP:0025124 rdfs:label Fragile teeth Kwetsbare tanden CANDIDATE -en nl HP:0025124 IAO:0000115 A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma NOT_TRANSLATED -en nl HP:0025125 rdfs:label White lesion of the oral mucosa Witte laesie van de orale mucosa CANDIDATE -en nl HP:0025125 IAO:0000115 White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white NOT_TRANSLATED -en nl HP:0025126 rdfs:label Oral hairy leukoplakia Orale harige leukoplakie CANDIDATE -en nl HP:0025126 IAO:0000115 A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance NOT_TRANSLATED -en nl HP:0025127 rdfs:label Actinic keratosis Actinische keratose CANDIDATE -en nl HP:0025127 IAO:0000115 A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color NOT_TRANSLATED -en nl HP:0025128 rdfs:label Reduced intraabdominal adipose tissue Verminderd intra-abdominaal vetweefsel CANDIDATE -en nl HP:0025128 IAO:0000115 An abnormally reduced amount of adipose tissue in the abdominal cavity An abnormally reduced amount of adipose tissue in the abdominal cavity NOT_TRANSLATED -en nl HP:0025129 rdfs:label Abnormal small intestinal mucosa morphology Afwijkende dunne darm mucosa morfologie CANDIDATE -en nl HP:0025129 IAO:0000115 A structural anomaly of the mucous lining of the small intestine A structural anomaly of the mucous lining of the small intestine NOT_TRANSLATED -en nl HP:0025130 rdfs:label Decreased small intestinal mucosa lactase level Verminderde dunne darm mucosa lactase-activiteit CANDIDATE -en nl HP:0025130 IAO:0000115 Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges NOT_TRANSLATED -en nl HP:0025131 rdfs:label Finger swelling Zwelling van de vinger CANDIDATE -en nl HP:0025131 IAO:0000115 Enlargement of the soft tissues of one or more fingers Enlargement of the soft tissues of one or more fingers NOT_TRANSLATED -en nl HP:0025132 rdfs:label Abnormal circulating estrogen level Afwijkend circulerend oestrogeen niveau CANDIDATE -en nl HP:0025132 IAO:0000115 A deviation from normal concentration of the hormone estrogen in the blood circulation A deviation from normal concentration of the hormone estrogen in the blood circulation NOT_TRANSLATED -en nl HP:0025133 rdfs:label Abnormal serum estradiol Afwijkend serum estradiol CANDIDATE -en nl HP:0025133 IAO:0000115 A deviation from normal concentrations of estradiol in the circulation A deviation from normal concentrations of estradiol in the circulation NOT_TRANSLATED -en nl HP:0025134 rdfs:label Increased serum estradiol Toegenomen serum estradiol CANDIDATE -en nl HP:0025134 IAO:0000115 An elevation above normal limits of the concentration of estradiol in the circulation An elevation above normal limits of the concentration of estradiol in the circulation NOT_TRANSLATED -en nl HP:0025135 rdfs:label Abnormal serum estriol Afwijkend serum estriol CANDIDATE -en nl HP:0025135 IAO:0000115 A deviation from normal concentration of estriol in the circulation A deviation from normal concentration of estriol in the circulation NOT_TRANSLATED -en nl HP:0025136 rdfs:label Increased serum estriol Toegenomen serum estriol CANDIDATE -en nl HP:0025136 IAO:0000115 An elevation above normal limits of estriol concentration in the circulation An elevation above normal limits of estriol concentration in the circulation NOT_TRANSLATED -en nl HP:0025137 rdfs:label Decreased serum estriol Verminderd serum estriol CANDIDATE -en nl HP:0025137 IAO:0000115 A reduction below normal limits of estriol in the circulation A reduction below normal limits of estriol in the circulation NOT_TRANSLATED -en nl HP:0025138 rdfs:label Abnormal serum estrone Afwijkend serum estron CANDIDATE -en nl HP:0025138 IAO:0000115 A deviation from the normal concentration of circulating estrone A deviation from the normal concentration of circulating estrone NOT_TRANSLATED -en nl HP:0025139 rdfs:label Increased serum estrone Toegenomen serum estron CANDIDATE -en nl HP:0025139 IAO:0000115 An elevation above normal limits of the concentration of estrone in the circulation An elevation above normal limits of the concentration of estrone in the circulation NOT_TRANSLATED -en nl HP:0025140 rdfs:label Decreased serum estrone Verminderd serum estron CANDIDATE -en nl HP:0025140 IAO:0000115 A reduction below normal limits of the concentration of estrone in the circulation A reduction below normal limits of the concentration of estrone in the circulation NOT_TRANSLATED -en nl HP:0025141 rdfs:label Gingival calcification Gingivale calcificatie CANDIDATE -en nl HP:0025141 IAO:0000115 Ectopic deposition of calcium salts found in the gingiva Ectopic deposition of calcium salts found in the gingiva NOT_TRANSLATED -en nl HP:0025142 rdfs:label Constitutional symptom Constitutioneel symptoom CANDIDATE -en nl HP:0025142 IAO:0000115 A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual NOT_TRANSLATED -en nl HP:0025143 rdfs:label Chills Rillingen CANDIDATE -en nl HP:0025143 IAO:0000115 A sudden sensation of feeling cold A sudden sensation of feeling cold NOT_TRANSLATED -en nl HP:0025144 rdfs:label Shivering Rillen CANDIDATE -en nl HP:0025144 IAO:0000115 Involuntary contraction or twitching of the muscles Involuntary contraction or twitching of the muscles NOT_TRANSLATED -en nl HP:0025145 rdfs:label Rigors Rillingen CANDIDATE -en nl HP:0025145 IAO:0000115 Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever NOT_TRANSLATED -en nl HP:0025146 rdfs:label Foveal degeneration Foveale degeneratie CANDIDATE -en nl HP:0025146 IAO:0000115 Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina NOT_TRANSLATED -en nl HP:0025147 rdfs:label Beaten bronze macular sheen Beaten bronze macular sheen NOT_TRANSLATED -en nl HP:0025147 IAO:0000115 A shiny appearance of the macula, which is often called a beaten bronze appearance A shiny appearance of the macula, which is often called a beaten bronze appearance NOT_TRANSLATED -en nl HP:0025148 rdfs:label Dark choroid Donker choroïd CANDIDATE -en nl HP:0025148 IAO:0000115 A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid) A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid) NOT_TRANSLATED -en nl HP:0025149 rdfs:label Atrophic muscularis propria Atrofische tunica muscularis CANDIDATE -en nl HP:0025149 IAO:0000115 Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis NOT_TRANSLATED -en nl HP:0025150 rdfs:label Hypoganglionosis Hypoganglionose CANDIDATE -en nl HP:0025150 IAO:0000115 Sparse and small myenteric ganglia Sparse and small myenteric ganglia NOT_TRANSLATED -en nl HP:0025151 rdfs:label Ganglioneuromatosis Ganglioneuromatose CANDIDATE -en nl HP:0025151 IAO:0000115 Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers NOT_TRANSLATED -en nl HP:0025152 rdfs:label Poor visual behavior for age Slecht visueel gedrag voor leeftijd CANDIDATE -en nl HP:0025152 IAO:0000115 Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones NOT_TRANSLATED -en nl HP:0025153 rdfs:label Transient Voorbijgaand CANDIDATE -en nl HP:0025153 IAO:0000115 Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration NOT_TRANSLATED -en nl HP:0025154 rdfs:label Portosystemic collateral veins Portosystemische collaterale aderen CANDIDATE -en nl HP:0025154 IAO:0000115 Presence of biliary veins that serve as a collateral channel to the systemic circulation Presence of biliary veins that serve as a collateral channel to the systemic circulation NOT_TRANSLATED -en nl HP:0025155 rdfs:label Abnormality of hepatobiliary system physiology Afwijking van hepatobiliaire systeem fysiologie CANDIDATE -en nl HP:0025155 IAO:0000115 A functional anomaly of the hepatobiliary system A functional anomaly of the hepatobiliary system NOT_TRANSLATED -en nl HP:0025156 rdfs:label Dependency on intravenous nutrition Afhankelijkheid van intraveneuze voeding CANDIDATE -en nl HP:0025156 IAO:0000115 Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status NOT_TRANSLATED -en nl HP:0025157 rdfs:label Increased urinary sedoheptulose Verhoogd urine sedoheptulose CANDIDATE -en nl HP:0025157 IAO:0000115 An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group NOT_TRANSLATED -en nl HP:0025158 rdfs:label Hyperautofluorescent retinal lesion Hyperautofluorescente retinale laesies CANDIDATE -en nl HP:0025158 IAO:0000115 Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging NOT_TRANSLATED -en nl HP:0025159 rdfs:label Hypoautofluorescent retinal lesion Hypoautofluorescente retinale laesies CANDIDATE -en nl HP:0025159 IAO:0000115 Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging NOT_TRANSLATED -en nl HP:0025160 rdfs:label Abnormal temper tantrums Abnormale driftbuien CANDIDATE -en nl HP:0025160 IAO:0000115 A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual NOT_TRANSLATED -en nl HP:0025161 rdfs:label Frequent temper tantrums Frequente driftbuien CANDIDATE -en nl HP:0025161 IAO:0000115 Temper tantrums that occur more frequently than usual Temper tantrums that occur more frequently than usual NOT_TRANSLATED -en nl HP:0025162 rdfs:label Severe temper tantrums Ernstige driftbuien CANDIDATE -en nl HP:0025162 IAO:0000115 Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes NOT_TRANSLATED -en nl HP:0025163 rdfs:label Abnormality of optic chiasm morphology Afwijking van chiasma opticum morfologie CANDIDATE -en nl HP:0025163 IAO:0000115 A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves NOT_TRANSLATED -en nl HP:0025164 rdfs:label Increased number of elastic fibers in the dermis Toegenomen aantal elastische vezels in de dermis CANDIDATE -en nl HP:0025164 IAO:0000115 An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods NOT_TRANSLATED -en nl HP:0025165 rdfs:label Clumping of elastic fibers in the dermis Klonteren van elastische vezels in de dermis CANDIDATE -en nl HP:0025165 IAO:0000115 Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis) Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis) NOT_TRANSLATED -en nl HP:0025166 rdfs:label Thickened elastic fibers in the dermis Verdikte elastische vezels in de dermis CANDIDATE -en nl HP:0025166 IAO:0000115 An increase of the diameter of elastic fibers in the dermis An increase of the diameter of elastic fibers in the dermis NOT_TRANSLATED -en nl HP:0025167 rdfs:label Fragmented elastic fibers in the dermis Gefragmenteerde elastische vezels in de dermis CANDIDATE -en nl HP:0025167 IAO:0000115 Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers NOT_TRANSLATED -en nl HP:0025168 rdfs:label Left ventricular diastolic dysfunction Linker ventriculaire diastolische dysfunctie CANDIDATE -en nl HP:0025168 IAO:0000115 Abnormal function of the left ventricule during left ventricular relaxation and filling Abnormal function of the left ventricule during left ventricular relaxation and filling NOT_TRANSLATED -en nl HP:0025169 rdfs:label Left ventricular systolic dysfunction Linker ventriculaire systolische dysfunctie CANDIDATE -en nl HP:0025169 IAO:0000115 Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent NOT_TRANSLATED -en nl HP:0025170 rdfs:label Neuronal/glioneuronal neoplasm of the central nervous system Neuronaal/glioneuronaal neoplasma in het centrale zenuwstelsel CANDIDATE -en nl HP:0025170 IAO:0000115 A central nervous system neoplasm with neuronal and, less consistently, glial differentiation A central nervous system neoplasm with neuronal and, less consistently, glial differentiation NOT_TRANSLATED -en nl HP:0025171 rdfs:label Rosette-forming glioneuronal tumor Rozetvormende glioneuronale tumor CANDIDATE -en nl HP:0025171 IAO:0000115 A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy NOT_TRANSLATED -en nl HP:0025172 rdfs:label Smooth septal thickening on pulmonary HRCT Gladde septum verdikking op pulmonale HRCT CANDIDATE -en nl HP:0025172 IAO:0000115 Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa NOT_TRANSLATED -en nl HP:0025173 rdfs:label Nodular septal thickening on pulmonary HRCT Nodulaire septum verdikking op pulmonale HRCT CANDIDATE -en nl HP:0025173 IAO:0000115 Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa NOT_TRANSLATED -en nl HP:0025174 rdfs:label Irregular septal thickening on pulmonary HRCT Irregulaire septum verdikking op pulmonale HRCT CANDIDATE -en nl HP:0025174 IAO:0000115 Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture NOT_TRANSLATED -en nl HP:0025175 rdfs:label Honeycomb lung Honingraat long CANDIDATE -en nl HP:0025175 IAO:0000115 Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care NOT_TRANSLATED -en nl HP:0025176 rdfs:label Intralobular interstitial thickening Intralobulaire interstitiële verdikking CANDIDATE -en nl HP:0025176 IAO:0000115 A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance NOT_TRANSLATED -en nl HP:0025177 rdfs:label Peribronchovascular interstitial thickening Peribronchovasculaire interstitiële verdikking CANDIDATE -en nl HP:0025177 IAO:0000115 Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography NOT_TRANSLATED -en nl HP:0025178 rdfs:label Subpleural interstitial thickening Subpleurale interstitiële verdikking CANDIDATE -en nl HP:0025178 IAO:0000115 Increase in thickness of the subpleural interstitium Increase in thickness of the subpleural interstitium NOT_TRANSLATED -en nl HP:0025179 rdfs:label Ground-glass opacification Ground-glass opacification NOT_TRANSLATED -en nl HP:0025179 IAO:0000115 On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured NOT_TRANSLATED -en nl HP:0025180 rdfs:label Centrilobular ground-glass opacification on pulmonary HRCT Centrilobular ground-glass opacification on pulmonary HRCT NOT_TRANSLATED -en nl HP:0025180 IAO:0000115 A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules NOT_TRANSLATED -en nl HP:0025181 rdfs:label Abdominal aseptic abscess Abdominaal aseptisch abces CANDIDATE -en nl HP:0025181 IAO:0000115 An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently NOT_TRANSLATED -en nl HP:0025182 rdfs:label Localized area of pendulous skin Gelokaliseerd gebied van hangende huid CANDIDATE -en nl HP:0025182 IAO:0000115 A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region NOT_TRANSLATED -en nl HP:0025186 rdfs:label Marcus Gunn jaw winking synkinesis Marcus Gunn jaw winking syndroom CANDIDATE -en nl HP:0025186 IAO:0000115 Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing NOT_TRANSLATED -en nl HP:0025188 rdfs:label Retinal vasculitis Retinale vasculitis CANDIDATE -en nl HP:0025188 IAO:0000115 Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion NOT_TRANSLATED -en nl HP:0025190 rdfs:label Bilateral tonic-clonic seizure with generalized onset Gegeneraliseerde tonisch-clonische aanvallen met focaal begin CANDIDATE -en nl HP:0025190 IAO:0000115 A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure NOT_TRANSLATED -en nl HP:0025192 rdfs:label Subtentorial periventricular white matter hyperdensity Subtentoriële periventriculaire witte stof hyperdensiteit CANDIDATE -en nl HP:0025192 IAO:0000115 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum) Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum) NOT_TRANSLATED -en nl HP:0025193 rdfs:label Posterolateral diaphragmatic hernia Postero-laterale hernia diafragmatica CANDIDATE -en nl HP:0025193 IAO:0000115 A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity NOT_TRANSLATED -en nl HP:0025194 rdfs:label Morgagni diaphragmatic hernia Hernia van Morgagni CANDIDATE -en nl HP:0025194 IAO:0000115 An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity NOT_TRANSLATED -en nl HP:0025195 rdfs:label Central diaphragmatic hernia Centraal hernia diafragmatica CANDIDATE -en nl HP:0025195 IAO:0000115 A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present NOT_TRANSLATED -en nl HP:0025196 rdfs:label Increased total iron binding capacity Verhoogde totaal ijzerbindings capaciteit CANDIDATE -en nl HP:0025196 IAO:0000115 An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity NOT_TRANSLATED -en nl HP:0025197 rdfs:label Inclusion body fibromatosis Inclusielichaampjes fibromatose CANDIDATE -en nl HP:0025197 IAO:0000115 A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration NOT_TRANSLATED -en nl HP:0025198 rdfs:label Inflammatory cap polyp Inflammatory cap polyp NOT_TRANSLATED -en nl HP:0025198 IAO:0000115 A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp NOT_TRANSLATED -en nl HP:0025200 rdfs:label Muscle fiber actin filament accumulation Spiervezel actine-filament accumulatie CANDIDATE -en nl HP:0025200 IAO:0000115 Accumulation in muscle cells of filaments composed of actin Accumulation in muscle cells of filaments composed of actin NOT_TRANSLATED -en nl HP:0025201 rdfs:label Abnormal circulating apolipoprotein concentration Afwijkend apolipoproteïne niveau CANDIDATE -en nl HP:0025201 IAO:0000115 A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation NOT_TRANSLATED -en nl HP:0025202 rdfs:label Elevated circulating apolipoprotein A-IV concentration Verhoogd apolipoproteïne A-IV niveau CANDIDATE -en nl HP:0025202 IAO:0000115 An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II NOT_TRANSLATED -en nl HP:0025203 rdfs:label Caput medusae Caput medusae CANDIDATE -en nl HP:0025203 IAO:0000115 Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins NOT_TRANSLATED -en nl HP:0025204 rdfs:label Triggered by Uitgelokt door CANDIDATE -en nl HP:0025204 IAO:0000115 A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation NOT_TRANSLATED -en nl HP:0025205 rdfs:label Triggered by breast feeding Uitgelokt door borstvoeding CANDIDATE -en nl HP:0025205 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant NOT_TRANSLATED -en nl HP:0025206 rdfs:label Triggered by cold Uitgelokt door kou CANDIDATE -en nl HP:0025206 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings NOT_TRANSLATED -en nl HP:0025207 rdfs:label Triggered by dehydration Uitgelokt door dehydratie CANDIDATE -en nl HP:0025207 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water NOT_TRANSLATED -en nl HP:0025208 rdfs:label Triggered by carbohydrate ingestion Uitgelokt door koolhydraat inname CANDIDATE -en nl HP:0025208 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates NOT_TRANSLATED -en nl HP:0025209 rdfs:label Triggered by fructose ingestion Uitgelokt door fructose inname CANDIDATE -en nl HP:0025209 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose NOT_TRANSLATED -en nl HP:0025210 rdfs:label Triggered by glucose ingestion Uitgelokt door glucose inname CANDIDATE -en nl HP:0025210 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose NOT_TRANSLATED -en nl HP:0025211 rdfs:label Triggered by ethanol ingestion Uitgelokt door ethanol inname CANDIDATE -en nl HP:0025211 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol NOT_TRANSLATED -en nl HP:0025212 rdfs:label Triggered by fasting Uitgelokt door vasten CANDIDATE -en nl HP:0025212 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting) Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting) NOT_TRANSLATED -en nl HP:0025213 rdfs:label Triggered by galactose ingestion Uitgelokt door galactose inname CANDIDATE -en nl HP:0025213 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose NOT_TRANSLATED -en nl HP:0025214 rdfs:label Triggered by heat Uitgelokt door hitte CANDIDATE -en nl HP:0025214 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to heat Applies to a sign or symptom that is provoked or brought about by exposure to heat NOT_TRANSLATED -en nl HP:0025215 rdfs:label Triggered by febrile illness Uitgelokt door koortsende ziekte CANDIDATE -en nl HP:0025215 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by febrile illness Applies to a sign or symptom that is provoked or brought about by febrile illness NOT_TRANSLATED -en nl HP:0025216 rdfs:label Triggered by heavy meal Uitgelokt door grote maaltijd CANDIDATE -en nl HP:0025216 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal NOT_TRANSLATED -en nl HP:0025217 rdfs:label Triggered by high-fat diet Uitgelokt door vetrijk dieet CANDIDATE -en nl HP:0025217 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids NOT_TRANSLATED -en nl HP:0025218 rdfs:label Triggered by hyperventilation Uitgelokt door hyperventilatie CANDIDATE -en nl HP:0025218 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing NOT_TRANSLATED -en nl HP:0025219 rdfs:label Triggered by vaccination Uitgelokt door vaccinatie CANDIDATE -en nl HP:0025219 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by a vaccination Applies to a sign or symptom that is provoked or brought about by a vaccination NOT_TRANSLATED -en nl HP:0025220 rdfs:label Triggered by menstruation Uitgelokt door menstruatie CANDIDATE -en nl HP:0025220 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by menstruation in a female Applies to a sign or symptom that is provoked or brought about by menstruation in a female NOT_TRANSLATED -en nl HP:0025221 rdfs:label Triggered by pregnancy Uitgelokt door zwangerschap CANDIDATE -en nl HP:0025221 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by pregnancy in a female Applies to a sign or symptom that is provoked or brought about by pregnancy in a female NOT_TRANSLATED -en nl HP:0025222 rdfs:label Triggered by sleep deprivation Uitgelokt door slaap deprivatie CANDIDATE -en nl HP:0025222 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep NOT_TRANSLATED -en nl HP:0025223 rdfs:label Triggered by smoking Uitgelokt door roken CANDIDATE -en nl HP:0025223 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by smoking Applies to a sign or symptom that is provoked or brought about by smoking NOT_TRANSLATED -en nl HP:0025224 rdfs:label Triggered by sodium ingestion Uitgelokt door natrium inname CANDIDATE -en nl HP:0025224 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium NOT_TRANSLATED -en nl HP:0025225 rdfs:label Triggered by sound Uitgelokt door geluid CANDIDATE -en nl HP:0025225 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise NOT_TRANSLATED -en nl HP:0025226 rdfs:label Triggered by stress Uitgelokt door stress CANDIDATE -en nl HP:0025226 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension NOT_TRANSLATED -en nl HP:0025227 rdfs:label Triggered by excitement Uitgelokt door opwinding CANDIDATE -en nl HP:0025227 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled NOT_TRANSLATED -en nl HP:0025228 rdfs:label Triggered by sudden movement Uitgelokt door plotselinge beweging CANDIDATE -en nl HP:0025228 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by a sudden movement Applies to a sign or symptom that is provoked or brought about by a sudden movement NOT_TRANSLATED -en nl HP:0025229 rdfs:label Triggered by vestibular stimulation Uitgelokt door vestibulaire stimulatie CANDIDATE -en nl HP:0025229 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair NOT_TRANSLATED -en nl HP:0025230 rdfs:label Tendonitis Tendinitis CANDIDATE -en nl HP:0025230 IAO:0000115 Inflammation of a tendon Inflammation of a tendon NOT_TRANSLATED -en nl HP:0025231 rdfs:label Abnormal synovial bursa morphology Afwijking van de synoviale bursa morfologie CANDIDATE -en nl HP:0025231 IAO:0000115 A structural anomaly of a synovial bursa A structural anomaly of a synovial bursa NOT_TRANSLATED -en nl HP:0025232 rdfs:label Bursitis Bursitis CANDIDATE -en nl HP:0025232 IAO:0000115 Inflammation of a synovial bursa Inflammation of a synovial bursa NOT_TRANSLATED -en nl HP:0025233 rdfs:label Sleep paralysis Slaapparalyse CANDIDATE -en nl HP:0025233 IAO:0000115 An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes NOT_TRANSLATED -en nl HP:0025234 rdfs:label Parasomnia Parasomnie CANDIDATE -en nl HP:0025234 IAO:0000115 An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep NOT_TRANSLATED -en nl HP:0025235 rdfs:label Non-rapid eye movement parasomnia Niet-REM parasomnie CANDIDATE -en nl HP:0025235 IAO:0000115 A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) NOT_TRANSLATED -en nl HP:0025236 rdfs:label Somnambulism Somnambulisme CANDIDATE -en nl HP:0025236 IAO:0000115 Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated NOT_TRANSLATED -en nl HP:0025237 rdfs:label Confusional arousal Confusional arousal CANDIDATE -en nl HP:0025237 IAO:0000115 A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours NOT_TRANSLATED -en nl HP:0025238 rdfs:label Foot pain Voet pijn CANDIDATE -en nl HP:0025238 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot NOT_TRANSLATED -en nl HP:0025239 rdfs:label Subhyaloid hemorrhage Subhyaloïde bloeding CANDIDATE -en nl HP:0025239 IAO:0000115 A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area NOT_TRANSLATED -en nl HP:0025240 rdfs:label Preretinal hemorrhage Preretinale bloeding CANDIDATE -en nl HP:0025240 IAO:0000115 An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation NOT_TRANSLATED -en nl HP:0025241 rdfs:label Flame-shaped retinal hemorrhage Vlam-vormige retinale bloeding CANDIDATE -en nl HP:0025241 IAO:0000115 A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells) A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells) NOT_TRANSLATED -en nl HP:0025242 rdfs:label Dot-and-blot retinal hemorrhage Dot-and-blot retinal hemorrhage NOT_TRANSLATED -en nl HP:0025242 IAO:0000115 Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location NOT_TRANSLATED -en nl HP:0025243 rdfs:label Subretinal hemorrhage Subretinale bloeding CANDIDATE -en nl HP:0025243 IAO:0000115 Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0025244 rdfs:label Subretinal pigment epithelium hemorrhage Subretinaal pigment epitheel bloeding CANDIDATE -en nl HP:0025244 IAO:0000115 An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane NOT_TRANSLATED -en nl HP:0025245 rdfs:label Cutaneous cyst Cutane cyste CANDIDATE -en nl HP:0025245 IAO:0000115 A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material NOT_TRANSLATED -en nl HP:0025246 rdfs:label Trichilemmal cyst Trichilemmale cyste CANDIDATE -en nl HP:0025246 IAO:0000115 Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous NOT_TRANSLATED -en nl HP:0025247 rdfs:label Dermoid cyst Dermoidcyste CANDIDATE -en nl HP:0025247 IAO:0000115 A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts arenslowly progressive and can grow to a size of 1 to 4 cm A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts arenslowly progressive and can grow to a size of 1 to 4 cm NOT_TRANSLATED -en nl HP:0025248 rdfs:label Eruptive vellus hair cyst Eruptieve vellus haar cysten CANDIDATE -en nl HP:0025248 IAO:0000115 A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge NOT_TRANSLATED -en nl HP:0025249 rdfs:label Comedo Comedo CANDIDATE -en nl HP:0025249 IAO:0000115 A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle) A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle) NOT_TRANSLATED -en nl HP:0025250 rdfs:label Closed comedo Gesloten comedo CANDIDATE -en nl HP:0025250 IAO:0000115 A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead NOT_TRANSLATED -en nl HP:0025251 rdfs:label Open comedo Open comedo CANDIDATE -en nl HP:0025251 IAO:0000115 A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black NOT_TRANSLATED -en nl HP:0025252 rdfs:label Geographic tongue Geografische tong CANDIDATE -en nl HP:0025252 IAO:0000115 An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map NOT_TRANSLATED -en nl HP:0025253 rdfs:label Claustrophobia Claustrofobie CANDIDATE -en nl HP:0025253 IAO:0000115 An abnormal fear of being in a closed or narrow space with no escape An abnormal fear of being in a closed or narrow space with no escape NOT_TRANSLATED -en nl HP:0025254 rdfs:label Ameliorated by Verzacht door CANDIDATE -en nl HP:0025254 IAO:0000115 An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable NOT_TRANSLATED -en nl HP:0025255 rdfs:label Ameliorated by pregnancy Verzacht door zwangerschap CANDIDATE -en nl HP:0025255 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female NOT_TRANSLATED -en nl HP:0025256 rdfs:label Ameliorated by heat Verzacht door hitte CANDIDATE -en nl HP:0025256 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by heat (including fever) Applies to a sign or symptom that is improved or made more bearable by heat (including fever) NOT_TRANSLATED -en nl HP:0025257 rdfs:label Ameliorated by carbohydrate ingestion Verzacht door koolhydraat inname CANDIDATE -en nl HP:0025257 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar) Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar) NOT_TRANSLATED -en nl HP:0025258 rdfs:label Stiff neck Stijve nek CANDIDATE -en nl HP:0025258 IAO:0000115 A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side NOT_TRANSLATED -en nl HP:0025259 rdfs:label Stiff elbow Stijve elleboog CANDIDATE -en nl HP:0025259 IAO:0000115 A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED -en nl HP:0025260 rdfs:label Stiff wrist Stijve pols CANDIDATE -en nl HP:0025260 IAO:0000115 A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED -en nl HP:0025261 rdfs:label Stiff finger Stijve vinger CANDIDATE -en nl HP:0025261 IAO:0000115 A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED -en nl HP:0025262 rdfs:label Stiff hip Stijve heup CANDIDATE -en nl HP:0025262 IAO:0000115 A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED -en nl HP:0025263 rdfs:label Stiff knee Stijve knie CANDIDATE -en nl HP:0025263 IAO:0000115 A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED -en nl HP:0025264 rdfs:label Stiff ankle Stijve enkel CANDIDATE -en nl HP:0025264 IAO:0000115 A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED -en nl HP:0025265 rdfs:label Stiff toe Stijve teen CANDIDATE -en nl HP:0025265 IAO:0000115 A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED -en nl HP:0025267 rdfs:label Snoring Snurken CANDIDATE -en nl HP:0025267 IAO:0000115 Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping NOT_TRANSLATED -en nl HP:0025268 rdfs:label Stuttering Stotteren CANDIDATE -en nl HP:0025268 IAO:0000115 Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds NOT_TRANSLATED -en nl HP:0025269 rdfs:label Panic attack Paniekaanval CANDIDATE -en nl HP:0025269 IAO:0000115 A sudden episode of intense fear in a situation in which there is no danger or apparent cause A sudden episode of intense fear in a situation in which there is no danger or apparent cause NOT_TRANSLATED -en nl HP:0025270 rdfs:label Abnormal esophagus physiology Afwijking van de fysiologie van de oesofagus CANDIDATE -en nl HP:0025270 IAO:0000115 Any physiological abnormality of the esophagus Any physiological abnormality of the esophagus NOT_TRANSLATED -en nl HP:0025271 rdfs:label Esophageal spasms Oesofageale spasmen CANDIDATE -en nl HP:0025271 IAO:0000115 Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful NOT_TRANSLATED -en nl HP:0025272 rdfs:label Melasma Melasma CANDIDATE -en nl HP:0025272 IAO:0000115 Symmetrical, blotchy, brownish facial pigmentation Symmetrical, blotchy, brownish facial pigmentation NOT_TRANSLATED -en nl HP:0025273 rdfs:label Achilles tendonitis Achilles tendinitis CANDIDATE -en nl HP:0025273 IAO:0000115 Inflammation of the Achilles tendon Inflammation of the Achilles tendon NOT_TRANSLATED -en nl HP:0025274 rdfs:label Ovarian dermoid cyst Ovariële dermoïd cyste CANDIDATE -en nl HP:0025274 IAO:0000115 An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others NOT_TRANSLATED -en nl HP:0025275 rdfs:label Lateral Lateraal CANDIDATE -en nl HP:0025275 IAO:0000115 Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure NOT_TRANSLATED -en nl HP:0025276 rdfs:label Abnormality of skin adnexa physiology Afwijking van huidadnexen fysiologie CANDIDATE -en nl HP:0025276 IAO:0000115 Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands NOT_TRANSLATED -en nl HP:0025277 rdfs:label Gustatory sweating Zweten bij smaak CANDIDATE -en nl HP:0025277 IAO:0000115 Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating) Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating) NOT_TRANSLATED -en nl HP:0025278 rdfs:label Cold-induced sweating Koud-geïnduceerd zweten CANDIDATE -en nl HP:0025278 IAO:0000115 Sweating provoked by cold temperature rather than by heat Sweating provoked by cold temperature rather than by heat NOT_TRANSLATED -en nl HP:0025279 rdfs:label Migratory Migrerend CANDIDATE -en nl HP:0025280 rdfs:label Pain characteristic Pijn kenmerk CANDIDATE -en nl HP:0025280 IAO:0000115 A pain characteristic is defined as a subjective category or type of pain A pain characteristic is defined as a subjective category or type of pain NOT_TRANSLATED -en nl HP:0025281 rdfs:label Sharp Scherp CANDIDATE -en nl HP:0025281 IAO:0000115 Applied to pain that is described as sharp, i.e., sudden and severe Applied to pain that is described as sharp, i.e., sudden and severe NOT_TRANSLATED -en nl HP:0025282 rdfs:label Dull Saai CANDIDATE -en nl HP:0025282 IAO:0000115 Applied to pain that is dull, i.e., not severe but that continues over a long period of time Applied to pain that is dull, i.e., not severe but that continues over a long period of time NOT_TRANSLATED -en nl HP:0025283 rdfs:label Tender Teder CANDIDATE -en nl HP:0025283 IAO:0000115 Applied to pain that is tender, i.e., elicited by touching the affected body part Applied to pain that is tender, i.e., elicited by touching the affected body part NOT_TRANSLATED -en nl HP:0025284 rdfs:label Sleep-interrupting Slaap-onderbrekend CANDIDATE -en nl HP:0025284 IAO:0000115 Applied to pain that wakes the affecting individual from sleep Applied to pain that wakes the affecting individual from sleep NOT_TRANSLATED -en nl HP:0025285 rdfs:label Aggravated by Verergerd door CANDIDATE -en nl HP:0025285 IAO:0000115 An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe NOT_TRANSLATED -en nl HP:0025286 rdfs:label Aggravated by activity Verergerd door activiteit CANDIDATE -en nl HP:0025286 IAO:0000115 Applied to a sign or symptom that is aggravated by activity, exertion, or exercise Applied to a sign or symptom that is aggravated by activity, exertion, or exercise NOT_TRANSLATED -en nl HP:0025287 rdfs:label Axial Axiaal CANDIDATE -en nl HP:0025287 IAO:0000115 Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs NOT_TRANSLATED -en nl HP:0025289 rdfs:label Cervical lymphadenopathy Cervicale lymfadenopathie CANDIDATE -en nl HP:0025289 IAO:0000115 Enlarged lymph nodes in the neck Enlarged lymph nodes in the neck NOT_TRANSLATED -en nl HP:0025290 rdfs:label Upper-body predominance Overheersing van het bovenlichaam CANDIDATE -en nl HP:0025290 IAO:0000115 Applies to an abnormality that affects the arms, trunk, head more than the legs Applies to an abnormality that affects the arms, trunk, head more than the legs NOT_TRANSLATED -en nl HP:0025291 rdfs:label Lower-body predominance Overheersing van het onderlichaam CANDIDATE -en nl HP:0025291 IAO:0000115 Applies to an abnormality that affects the legs more than the arms, trunk, head Applies to an abnormality that affects the legs more than the arms, trunk, head NOT_TRANSLATED -en nl HP:0025292 rdfs:label Acral Acraal CANDIDATE -en nl HP:0025292 IAO:0000115 Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose) Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose) NOT_TRANSLATED -en nl HP:0025293 rdfs:label Distributed along Blaschko lines Gedistribueerd langs Blaschko lijnen CANDIDATE -en nl HP:0025293 IAO:0000115 Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body NOT_TRANSLATED -en nl HP:0025294 rdfs:label Dermatomal Dermatomaal CANDIDATE -en nl HP:0025294 IAO:0000115 Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution NOT_TRANSLATED -en nl HP:0025295 rdfs:label Herpetiform Herpetiform CANDIDATE -en nl HP:0025295 IAO:0000115 Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections NOT_TRANSLATED -en nl HP:0025296 rdfs:label Morbilliform Morbilliform CANDIDATE -en nl HP:0025296 IAO:0000115 Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent NOT_TRANSLATED -en nl HP:0025297 rdfs:label Prolonged Verlengd CANDIDATE -en nl HP:0025297 IAO:0000115 Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection) Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection) NOT_TRANSLATED -en nl HP:0025300 rdfs:label Malar rash Malar uitslag CANDIDATE -en nl HP:0025300 IAO:0000115 An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose NOT_TRANSLATED -en nl HP:0025301 rdfs:label Nocturnal Nachtelijk CANDIDATE -en nl HP:0025301 IAO:0000115 Applies to an abnormality that occurs in or is exacerbated during the night Applies to an abnormality that occurs in or is exacerbated during the night NOT_TRANSLATED -en nl HP:0025302 rdfs:label Diurnal Dagelijks CANDIDATE -en nl HP:0025302 IAO:0000115 Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time NOT_TRANSLATED -en nl HP:0025303 rdfs:label Episodic Episodisch CANDIDATE -en nl HP:0025303 IAO:0000115 Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present NOT_TRANSLATED -en nl HP:0025304 rdfs:label Periodic Periodiek CANDIDATE -en nl HP:0025304 IAO:0000115 Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length NOT_TRANSLATED -en nl HP:0025305 rdfs:label Quotidian Dagelijks CANDIDATE -en nl HP:0025305 IAO:0000115 Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours) Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours) NOT_TRANSLATED -en nl HP:0025306 rdfs:label Acute emergence over minutes Acute opkomst in minuten CANDIDATE -en nl HP:0025306 IAO:0000115 Acute appearance of disease manifestations in a period of minutes Acute appearance of disease manifestations in a period of minutes NOT_TRANSLATED -en nl HP:0025307 rdfs:label Acute emergence over hours Acute opkomst in uren CANDIDATE -en nl HP:0025307 IAO:0000115 Acute appearance of disease manifestations in a period of hours Acute appearance of disease manifestations in a period of hours NOT_TRANSLATED -en nl HP:0025308 rdfs:label Acute emergence over days Acute opkomst in dagen CANDIDATE -en nl HP:0025308 IAO:0000115 Acute appearance of disease manifestations in a period of days Acute appearance of disease manifestations in a period of days NOT_TRANSLATED -en nl HP:0025309 rdfs:label Abnormal pupil shape Afwijkende vorm van pupil CANDIDATE -en nl HP:0025309 IAO:0000115 A deviation from the normal circular shape of the pupil A deviation from the normal circular shape of the pupil NOT_TRANSLATED -en nl HP:0025310 rdfs:label Oval pupil Ovale pupil CANDIDATE -en nl HP:0025310 IAO:0000115 An abnormal pupil shape that is elliptical, i.e., egg-like An abnormal pupil shape that is elliptical, i.e., egg-like NOT_TRANSLATED -en nl HP:0025311 rdfs:label Anterior chamber cyst Voorste oogkamer cyste CANDIDATE -en nl HP:0025311 IAO:0000115 A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material NOT_TRANSLATED -en nl HP:0025312 rdfs:label Esophoria Esoforie CANDIDATE -en nl HP:0025312 IAO:0000115 A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters NOT_TRANSLATED -en nl HP:0025313 rdfs:label Exophoria Exoforie CANDIDATE -en nl HP:0025313 IAO:0000115 A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia NOT_TRANSLATED -en nl HP:0025314 rdfs:label Choroidal nevus Choroïdale naevus CANDIDATE -en nl HP:0025314 IAO:0000115 A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia NOT_TRANSLATED -en nl HP:0025315 rdfs:label Exacerbated by head trauma Verergerd door hoofdtrauma CANDIDATE -en nl HP:0025315 IAO:0000115 Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma NOT_TRANSLATED -en nl HP:0025317 rdfs:label Cubitus varus Cubitus varus CANDIDATE -en nl HP:0025317 IAO:0000115 A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body NOT_TRANSLATED -en nl HP:0025318 rdfs:label Ovarian carcinoma Ovariumcarcinoom CANDIDATE -en nl HP:0025318 IAO:0000115 A malignant neoplasm originating from the surface ovarian epithelium A malignant neoplasm originating from the surface ovarian epithelium NOT_TRANSLATED -en nl HP:0025319 rdfs:label Rubeosis iridis Rubeosis iridis CANDIDATE -en nl HP:0025319 IAO:0000115 Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification NOT_TRANSLATED -en nl HP:0025320 rdfs:label Leakage of dye on fundus fluorescein angiography Lekage van kleurstof op fundus fluoresceïne-angiografie CANDIDATE -en nl HP:0025320 IAO:0000115 Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins NOT_TRANSLATED -en nl HP:0025321 rdfs:label Copper accumulation in liver Koper accumulatie in lever CANDIDATE -en nl HP:0025321 IAO:0000115 An anomalous build up of copper (Cu) in the liver An anomalous build up of copper (Cu) in the liver NOT_TRANSLATED -en nl HP:0025322 rdfs:label Venous occlusion Veneuze occlusie CANDIDATE -en nl HP:0025322 IAO:0000115 Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein NOT_TRANSLATED -en nl HP:0025323 rdfs:label Abnormal arterial physiology Afwijkende arteriële fysiologie CANDIDATE -en nl HP:0025323 IAO:0000115 An anomaly of arterial function An anomaly of arterial function NOT_TRANSLATED -en nl HP:0025324 rdfs:label Arterial occlusion Arteriële occlusie CANDIDATE -en nl HP:0025324 IAO:0000115 Blockage of blood flow through an artery Blockage of blood flow through an artery NOT_TRANSLATED -en nl HP:0025325 rdfs:label Sparse medial eyebrow Spaarzame mediale wenkbrauw CANDIDATE -en nl HP:0025325 IAO:0000115 Decreased density/number and/or decreased diameter of medial eyebrow hairs Decreased density/number and/or decreased diameter of medial eyebrow hairs NOT_TRANSLATED -en nl HP:0025326 rdfs:label Retinal arterial occlusion Retinale arteriële occlusie CANDIDATE -en nl HP:0025326 IAO:0000115 Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina NOT_TRANSLATED -en nl HP:0025327 rdfs:label Decreased renal parenchymal thickness Afgenomen renale parenchymale dikte CANDIDATE -en nl HP:0025327 IAO:0000115 Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans NOT_TRANSLATED -en nl HP:0025328 rdfs:label Antepartum hemorrhage Antepartum bloeding CANDIDATE -en nl HP:0025328 IAO:0000115 Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby NOT_TRANSLATED -en nl HP:0025329 rdfs:label Anti-glutamic acid decarboxylase antibody positivity Anti-glutaminezuur decarboxylase antistoffen positiviteit CANDIDATE -en nl HP:0025329 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase NOT_TRANSLATED -en nl HP:0025330 rdfs:label Downgaze palsy Downgaze palsy NOT_TRANSLATED -en nl HP:0025330 IAO:0000115 A limitation of the ability to direct one's gaze below the horizontal meridian A limitation of the ability to direct one's gaze below the horizontal meridian NOT_TRANSLATED -en nl HP:0025331 rdfs:label Upgaze palsy Upgaze palsy NOT_TRANSLATED -en nl HP:0025331 IAO:0000115 A limitation of the ability to direct one's gaze above the horizontal meridian A limitation of the ability to direct one's gaze above the horizontal meridian NOT_TRANSLATED -en nl HP:0025332 rdfs:label Abnormality of foot cortical bone Afwijking van voet corticaal bot CANDIDATE -en nl HP:0025332 IAO:0000115 An anomaly of the outer shell (cortex) of a foot bone An anomaly of the outer shell (cortex) of a foot bone NOT_TRANSLATED -en nl HP:0025333 rdfs:label Cortical thinning of foot bones Corticale verdunning van botten van de voet CANDIDATE -en nl HP:0025333 IAO:0000115 A reduction in the thickness of the outer shell (cortex) of foot bones A reduction in the thickness of the outer shell (cortex) of foot bones NOT_TRANSLATED -en nl HP:0025334 rdfs:label Triggered by emotion Uitgelokt door emotie CANDIDATE -en nl HP:0025334 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion) Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion) NOT_TRANSLATED -en nl HP:0025335 rdfs:label Delayed ability to stand Vertraagd vermogen om te staan CANDIDATE -en nl HP:0025335 IAO:0000115 A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months NOT_TRANSLATED -en nl HP:0025336 rdfs:label Delayed ability to sit Vertraagd vermogen om te zitten CANDIDATE -en nl HP:0025336 IAO:0000115 A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age NOT_TRANSLATED -en nl HP:0025337 rdfs:label Red eye Rood oog CANDIDATE -en nl HP:0025337 IAO:0000115 A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera NOT_TRANSLATED -en nl HP:0025338 rdfs:label Circumlimbal hyperemia Circumlimbale hyperemie CANDIDATE -en nl HP:0025338 IAO:0000115 A ring of redness at the limbus of the eye, the border between the cornea and the sclera A ring of redness at the limbus of the eye, the border between the cornea and the sclera NOT_TRANSLATED -en nl HP:0025339 rdfs:label Superficial episcleral hyperemia Superficiële episclerale hyperemie CANDIDATE -en nl HP:0025339 IAO:0000115 Prominence of blood vessels of the superficial episcleral tissues Prominence of blood vessels of the superficial episcleral tissues NOT_TRANSLATED -en nl HP:0025340 rdfs:label Deep episcleral hyperemia Diepe episclerale hyperemie CANDIDATE -en nl HP:0025340 IAO:0000115 Prominence of blood vessels of the deep episcleral tissues Prominence of blood vessels of the deep episcleral tissues NOT_TRANSLATED -en nl HP:0025341 rdfs:label Corneal keratic precipitates Corneale keratische precipitates CANDIDATE -en nl HP:0025341 IAO:0000115 An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea NOT_TRANSLATED -en nl HP:0025342 rdfs:label Central retinal artery occlusion Arteria centralis retinae occlusie CANDIDATE -en nl HP:0025342 IAO:0000115 Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss NOT_TRANSLATED -en nl HP:0025343 rdfs:label Lupus anticoagulant Lupus anticoagulans CANDIDATE -en nl HP:0025343 IAO:0000115 Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces NOT_TRANSLATED -en nl HP:0025344 rdfs:label Interlobular bile duct destruction Interlobulaire galgang destructie CANDIDATE -en nl HP:0025344 IAO:0000115 Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) NOT_TRANSLATED -en nl HP:0025345 rdfs:label Abnormality of circulating beta-2-microglobulin level Afwijkend circulerend beta-2-microglobuline niveau CANDIDATE -en nl HP:0025345 IAO:0000115 A deviation from the normal concentration of beta-2-microglobulin in the blood A deviation from the normal concentration of beta-2-microglobulin in the blood NOT_TRANSLATED -en nl HP:0025346 rdfs:label Increased circulating beta-2-microglobulin level Toegenomen circulerend beta-2-microglobuline niveau CANDIDATE -en nl HP:0025346 IAO:0000115 Elevated concentration of beta-2-microglobulin in the blood Elevated concentration of beta-2-microglobulin in the blood NOT_TRANSLATED -en nl HP:0025347 rdfs:label Decreased circulating beta-2-microglobulin level Afgenomen circulerend beta-2-microglobuline niveau CANDIDATE -en nl HP:0025347 IAO:0000115 Reduced concentration of beta-2-microglobulin in the blood Reduced concentration of beta-2-microglobulin in the blood NOT_TRANSLATED -en nl HP:0025348 rdfs:label Abnormal corneal limbus morphology Afwijking van de corneale limbus CANDIDATE -en nl HP:0025348 IAO:0000115 An anomaly of the margin of the cornea overlapped by the sclera An anomaly of the margin of the cornea overlapped by the sclera NOT_TRANSLATED -en nl HP:0025349 rdfs:label Limbal edema Limbus oedeem CANDIDATE -en nl HP:0025349 IAO:0000115 Swelling of the margin of the cornea overlapped by the sclera Swelling of the margin of the cornea overlapped by the sclera NOT_TRANSLATED -en nl HP:0025350 rdfs:label Giant conjunctival papillae Giant papillary conjunctivitis CANDIDATE -en nl HP:0025350 IAO:0000115 Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein NOT_TRANSLATED -en nl HP:0025351 rdfs:label Recurrent interdigital mycosis Recidiverende interdigitale mycose CANDIDATE -en nl HP:0025351 IAO:0000115 A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers NOT_TRANSLATED -en nl HP:0025352 rdfs:label Typically de novo Autosomale dominante do novo kiembaan mutatie CANDIDATE -en nl HP:0025352 IAO:0000115 Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals NOT_TRANSLATED -en nl HP:0025353 rdfs:label Anti-multiple nuclear dots antibody positivity Anti-multiple nuclear dots antibody positivity NOT_TRANSLATED -en nl HP:0025353 IAO:0000115 A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells NOT_TRANSLATED -en nl HP:0025354 rdfs:label Abnormal cellular phenotype Afwijkend cellulair fenotype CANDIDATE -en nl HP:0025354 IAO:0000115 An anomaly of cellular morphology or physiology An anomaly of cellular morphology or physiology NOT_TRANSLATED -en nl HP:0025355 rdfs:label Retinal arterial macroaneurysms Retinale arteriële macroaneurysmas CANDIDATE -en nl HP:0025355 IAO:0000115 Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative NOT_TRANSLATED -en nl HP:0025357 rdfs:label Erratic myoclonus Erratische myoclonus CANDIDATE -en nl HP:0025357 IAO:0000115 A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous NOT_TRANSLATED -en nl HP:0025358 rdfs:label Uveal ectropion Uveaal ectropion CANDIDATE -en nl HP:0025358 IAO:0000115 Presence of iris pigment epithelium on the anterior surface of the iris Presence of iris pigment epithelium on the anterior surface of the iris NOT_TRANSLATED -en nl HP:0025359 rdfs:label Polygonal renal calices Polygonale nierkelken CANDIDATE -en nl HP:0025359 IAO:0000115 An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance) An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance) NOT_TRANSLATED -en nl HP:0025360 rdfs:label Polycalycosis Polycalycosis NOT_TRANSLATED -en nl HP:0025360 IAO:0000115 Increased number of calices of the kidney Increased number of calices of the kidney NOT_TRANSLATED -en nl HP:0025361 rdfs:label Abnormality of medullary pyramid morphology Afwijking van de medullaire piramide morfologie CANDIDATE -en nl HP:0025361 IAO:0000115 A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla NOT_TRANSLATED -en nl HP:0025362 rdfs:label Renal medullary pyramid hypoplasia Renale medullaire piramide hypoplasie CANDIDATE -en nl HP:0025362 IAO:0000115 Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla NOT_TRANSLATED -en nl HP:0025363 rdfs:label Glomerular endocapillary hypercellularity Endocapillaire hypercellulariteit CANDIDATE -en nl HP:0025363 IAO:0000115 Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina NOT_TRANSLATED -en nl HP:0025364 rdfs:label Glomerular extracapillary hypercellularity Extracapillaire hypercellulariteit CANDIDATE -en nl HP:0025364 IAO:0000115 Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells NOT_TRANSLATED -en nl HP:0025367 rdfs:label Trichoepithelioma Trichoepithelioom CANDIDATE -en nl HP:0025367 IAO:0000115 A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age NOT_TRANSLATED -en nl HP:0025368 rdfs:label Abnormal growth plate morphology Afwijking van groeiplaat morfologie CANDIDATE -en nl HP:0025368 IAO:0000115 A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone) A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone) NOT_TRANSLATED -en nl HP:0025369 rdfs:label Thick growth plates Dikke groeiplaten CANDIDATE -en nl HP:0025369 IAO:0000115 Increased thickness (dimension along the axis of the bone) of the growth plate Increased thickness (dimension along the axis of the bone) of the growth plate NOT_TRANSLATED -en nl HP:0025370 rdfs:label Abnormal ossification of the sacrum Afwijkende ossificatie van het sacrum CANDIDATE -en nl HP:0025370 IAO:0000115 Abnormal bone tissue formation (ossification) affecting the sacrum Abnormal bone tissue formation (ossification) affecting the sacrum NOT_TRANSLATED -en nl HP:0025371 rdfs:label Delayed ossification of the sacrum Vertraagde ossificatie van het sacrum CANDIDATE -en nl HP:0025371 IAO:0000115 Formation of the sacrum bone tissue occurs later than age-adjusted norms Formation of the sacrum bone tissue occurs later than age-adjusted norms NOT_TRANSLATED -en nl HP:0025372 rdfs:label Loud snoring Luid snurken CANDIDATE -en nl HP:0025372 IAO:0000115 Particularly loud snoring, snoring at high volume Particularly loud snoring, snoring at high volume NOT_TRANSLATED -en nl HP:0025373 rdfs:label Interictal EEG abnormality Interictale EEG afwijking CANDIDATE -en nl HP:0025373 IAO:0000115 Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge NOT_TRANSLATED -en nl HP:0025374 rdfs:label Duplicated odontoid process Gedupliceerde processus odontoideus CANDIDATE -en nl HP:0025374 IAO:0000115 The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates NOT_TRANSLATED -en nl HP:0025375 rdfs:label Orthotopic os odontoideum Orthotopisch os odontoideum CANDIDATE -en nl HP:0025375 IAO:0000115 Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus NOT_TRANSLATED -en nl HP:0025376 rdfs:label Hyperglutaminuria Hyperglutaminurie CANDIDATE -en nl HP:0025376 IAO:0000115 An increased concentration of glutamine in the urine An increased concentration of glutamine in the urine NOT_TRANSLATED -en nl HP:0025377 rdfs:label Triggered by exertion Uitgelokt door inspanning CANDIDATE -en nl HP:0025377 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise NOT_TRANSLATED -en nl HP:0025379 rdfs:label Anti-thyroid peroxidase antibody positivity Anti thyroïd-peroxidase antistoffen positief CANDIDATE -en nl HP:0025379 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase NOT_TRANSLATED -en nl HP:0025380 rdfs:label Increased circulating androstenedione concentration Verhoogd serum androstenedione CANDIDATE -en nl HP:0025380 IAO:0000115 Increased concentration of androstenedione in the blood circulation Increased concentration of androstenedione in the blood circulation NOT_TRANSLATED -en nl HP:0025381 rdfs:label Anti-pituitary antibody positivity Anti-hypofyse antistoffen positiviteit CANDIDATE -en nl HP:0025381 IAO:0000115 Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function NOT_TRANSLATED -en nl HP:0025382 rdfs:label Hypodipsia Hypodipsie CANDIDATE -en nl HP:0025382 IAO:0000115 Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake NOT_TRANSLATED -en nl HP:0025383 rdfs:label Dorsocervical fat pad Dorsocervicale fat pad CANDIDATE -en nl HP:0025383 IAO:0000115 An area of fat accumulation at the back of the neck in the form of a hump An area of fat accumulation at the back of the neck in the form of a hump NOT_TRANSLATED -en nl HP:0025384 rdfs:label Diet-resistant subcutaneous adipose tissue Dieet-resistent subcutaan vetweefsel CANDIDATE -en nl HP:0025384 IAO:0000115 Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery NOT_TRANSLATED -en nl HP:0025385 rdfs:label Diet-resistant subcutaneous adipose tissue below waist Dieet-resistent subcutaan vetweefsel onder de middel CANDIDATE -en nl HP:0025385 IAO:0000115 Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery NOT_TRANSLATED -en nl HP:0025386 rdfs:label Bitemporal hollowing Bitemporale hollowing CANDIDATE -en nl HP:0025386 IAO:0000115 Depression of profile in both temporal regions Depression of profile in both temporal regions NOT_TRANSLATED -en nl HP:0025387 rdfs:label Pill-rolling tremor Pil-rollende tremor CANDIDATE -en nl HP:0025387 IAO:0000115 A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other NOT_TRANSLATED -en nl HP:0025388 rdfs:label Thyroid nodule Schildklier nodulus CANDIDATE -en nl HP:0025388 IAO:0000115 "A nodular lesion that develops in the thyroid gland. The term ""thyroid nodule"" refers to any abnormal growth that forms a lump in the thyroid gland" "A nodular lesion that develops in the thyroid gland. The term ""thyroid nodule"" refers to any abnormal growth that forms a lump in the thyroid gland" NOT_TRANSLATED -en nl HP:0025389 rdfs:label Pulmonary interstitial high-resolution computed tomography abnormality Pulmonaire interstitiële hoge-resolutie computertomografie afwijking CANDIDATE -en nl HP:0025389 IAO:0000115 High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities NOT_TRANSLATED -en nl HP:0025390 rdfs:label Reticular pattern on pulmonary HRCT Reticulair patroon op pulmonale HRCT CANDIDATE -en nl HP:0025390 IAO:0000115 On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh NOT_TRANSLATED -en nl HP:0025391 rdfs:label Crazy paving pattern Crazy paving pattern NOT_TRANSLATED -en nl HP:0025391 IAO:0000115 The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia NOT_TRANSLATED -en nl HP:0025392 rdfs:label Nodular pattern on pulmonary HRCT Nodulair patroon op pulmonale HRCT CANDIDATE -en nl HP:0025392 IAO:0000115 A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter NOT_TRANSLATED -en nl HP:0025393 rdfs:label Reticulonodular pattern on pulmonary HRCT Reticulonodulair patroon op pulmonale HRCT CANDIDATE -en nl HP:0025393 IAO:0000115 Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography NOT_TRANSLATED -en nl HP:0025394 rdfs:label Cystic pattern on pulmonary HRCT Cysteus patroon op pulmonale HRCT CANDIDATE -en nl HP:0025394 IAO:0000115 On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema NOT_TRANSLATED -en nl HP:0025395 rdfs:label Combined cystic and ground-glass pattern on pulmonary HRCT Gecombineerd cysteus en ground-glass patroon op pulmonale HRCT CANDIDATE -en nl HP:0025395 IAO:0000115 Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, NOT_TRANSLATED -en nl HP:0025396 rdfs:label Decreased attenuation pattern on pulmonary HRCT Decreased attenuation pattern on pulmonary HRCT NOT_TRANSLATED -en nl HP:0025396 IAO:0000115 Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography NOT_TRANSLATED -en nl HP:0025397 rdfs:label Mosaic attenuation pattern on pulmonary HRCT Mosaic attenuation pattern on pulmonary HRCT NOT_TRANSLATED -en nl HP:0025397 IAO:0000115 A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography NOT_TRANSLATED -en nl HP:0025398 rdfs:label Nodular-perilymphatic pattern on pulmonary HRCT Nodulair-perilymfatisch patroon op pulmonale HRCT CANDIDATE -en nl HP:0025398 IAO:0000115 A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution NOT_TRANSLATED -en nl HP:0025399 rdfs:label Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT NOT_TRANSLATED -en nl HP:0025399 IAO:0000115 A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree NOT_TRANSLATED -en nl HP:0025400 rdfs:label Nodular-random pattern on pulmonary HRCT Nodulair-willekeurig patroon op pulmonale HRCT CANDIDATE -en nl HP:0025400 IAO:0000115 A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern NOT_TRANSLATED -en nl HP:0025401 rdfs:label Staring gaze Starende blik CANDIDATE -en nl HP:0025401 IAO:0000115 An abnormality in which the eyes are held permanently wide open An abnormality in which the eyes are held permanently wide open NOT_TRANSLATED -en nl HP:0025402 rdfs:label Square-wave jerks Square-wave jerks NOT_TRANSLATED -en nl HP:0025402 IAO:0000115 Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion NOT_TRANSLATED -en nl HP:0025403 rdfs:label Stooped posture Gebogen houding CANDIDATE -en nl HP:0025403 IAO:0000115 A habitual positioning of the body with the head and upper back bent forward A habitual positioning of the body with the head and upper back bent forward NOT_TRANSLATED -en nl HP:0025404 rdfs:label Abnormal visual fixation Abnormale visuele fixatie CANDIDATE -en nl HP:0025404 IAO:0000115 Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location NOT_TRANSLATED -en nl HP:0025405 rdfs:label Visual fixation instability Visuele fixatie instabiliteit CANDIDATE -en nl HP:0025405 IAO:0000115 A deficit in the ability to fixate eye movements in order to stabilize images on the retina A deficit in the ability to fixate eye movements in order to stabilize images on the retina NOT_TRANSLATED -en nl HP:0025406 rdfs:label Asthenia Asthenie CANDIDATE -en nl HP:0025406 IAO:0000115 A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body NOT_TRANSLATED -en nl HP:0025407 rdfs:label Rectourethral fistula Rectourethrale fistel CANDIDATE -en nl HP:0025407 IAO:0000115 An abnormal connection (fistula) between the rectum and the urethra An abnormal connection (fistula) between the rectum and the urethra NOT_TRANSLATED -en nl HP:0025408 rdfs:label Abnormal spleen morphology Afwijkende milt morfologie CANDIDATE -en nl HP:0025408 IAO:0000115 Any anomaly of the structure of the spleen Any anomaly of the structure of the spleen NOT_TRANSLATED -en nl HP:0025409 rdfs:label Abnormal spleen physiology Afwijkende milt fysiologie CANDIDATE -en nl HP:0025409 IAO:0000115 Any anomaly of the function of the spleen Any anomaly of the function of the spleen NOT_TRANSLATED -en nl HP:0025410 rdfs:label Splenogonadal fusion Splenogonadale fusie CANDIDATE -en nl HP:0025410 IAO:0000115 Joining of the spleen and a gonad during embryological development Joining of the spleen and a gonad during embryological development NOT_TRANSLATED -en nl HP:0025413 rdfs:label Fossa navicularis urethral stricture Fossa navicularis urethrale strictuur CANDIDATE -en nl HP:0025413 IAO:0000115 A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis NOT_TRANSLATED -en nl HP:0025414 rdfs:label Pendulous urethral stricture Hangende urethrale strictuur CANDIDATE -en nl HP:0025414 IAO:0000115 A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa NOT_TRANSLATED -en nl HP:0025415 rdfs:label Bulbar urethral stricture Bulbaire urethrale strictuur CANDIDATE -en nl HP:0025415 IAO:0000115 A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis NOT_TRANSLATED -en nl HP:0025416 rdfs:label Vaginal stricture Vaginale strictuur CANDIDATE -en nl HP:0025416 IAO:0000115 A narrowing of the vagina owing to scar formation A narrowing of the vagina owing to scar formation NOT_TRANSLATED -en nl HP:0025417 rdfs:label Patulous urethra Patulous urethra NOT_TRANSLATED -en nl HP:0025417 IAO:0000115 Urethra more open or expanded than normal Urethra more open or expanded than normal NOT_TRANSLATED -en nl HP:0025418 rdfs:label Renal cortical necrosis Renale corticale necrose CANDIDATE -en nl HP:0025418 IAO:0000115 Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct NOT_TRANSLATED -en nl HP:0025419 rdfs:label Pulmonary pneumatocele Pulmonale pneumatocele CANDIDATE -en nl HP:0025419 IAO:0000115 A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung NOT_TRANSLATED -en nl HP:0025420 rdfs:label Diffuse alveolar hemorrhage Diffuse alveolaire bloeding CANDIDATE -en nl HP:0025420 IAO:0000115 A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen NOT_TRANSLATED -en nl HP:0025421 rdfs:label Pneumomediastinum Pneumomediastinum CANDIDATE -en nl HP:0025421 IAO:0000115 The presence of free air in the mediastinum The presence of free air in the mediastinum NOT_TRANSLATED -en nl HP:0025422 rdfs:label Pleural cyst Pleurale cyste CANDIDATE -en nl HP:0025422 IAO:0000115 A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance NOT_TRANSLATED -en nl HP:0025423 rdfs:label Abnormal larynx morphology Afwijkende larynx morfologie CANDIDATE -en nl HP:0025423 IAO:0000115 Any anomaly of the structure of the larynx Any anomaly of the structure of the larynx NOT_TRANSLATED -en nl HP:0025424 rdfs:label Abnormal larynx physiology Afwijkende larynx fysiologie CANDIDATE -en nl HP:0025424 IAO:0000115 Any anomaly of the function of the larynx Any anomaly of the function of the larynx NOT_TRANSLATED -en nl HP:0025425 rdfs:label Laryngospasm Laryngospasme CANDIDATE -en nl HP:0025425 IAO:0000115 A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe NOT_TRANSLATED -en nl HP:0025426 rdfs:label Abnormal bronchus morphology Afwijkende bronchus morfologie CANDIDATE -en nl HP:0025426 IAO:0000115 Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs NOT_TRANSLATED -en nl HP:0025427 rdfs:label Abnormal bronchus physiology Afwijkende bronchus fysiologie CANDIDATE -en nl HP:0025427 IAO:0000115 Any anomaly of the function of the bronchi Any anomaly of the function of the bronchi NOT_TRANSLATED -en nl HP:0025428 rdfs:label Bronchospasm Bronchospasme CANDIDATE -en nl HP:0025428 IAO:0000115 A spasm (sudden, involuntary constriction) of the bronchioles A spasm (sudden, involuntary constriction) of the bronchioles NOT_TRANSLATED -en nl HP:0025429 rdfs:label Abnormal cry Afwijkende kreet CANDIDATE -en nl HP:0025429 IAO:0000115 Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation NOT_TRANSLATED -en nl HP:0025430 rdfs:label High-pitched cry Hoge kreet CANDIDATE -en nl HP:0025430 IAO:0000115 A type of crying in an abnormally high-pitched voice A type of crying in an abnormally high-pitched voice NOT_TRANSLATED -en nl HP:0025431 rdfs:label Staccato cry Staccato kreet CANDIDATE -en nl HP:0025431 IAO:0000115 A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations NOT_TRANSLATED -en nl HP:0025432 rdfs:label Acanthoma Acanthoom CANDIDATE -en nl HP:0025432 IAO:0000115 A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm NOT_TRANSLATED -en nl HP:0025433 rdfs:label Decreased lecithin cholesterol acyl transferase level Verminderd lecithine-cholesterol-acyltransferase activiteit CANDIDATE -en nl HP:0025433 IAO:0000115 Reduced level of the enzyme lecithin cholesterol acyl transferase Reduced level of the enzyme lecithin cholesterol acyl transferase NOT_TRANSLATED -en nl HP:0025434 rdfs:label Reduced hemolytic complement activity Verminderde hemolytische complement activiteit CANDIDATE -en nl HP:0025434 IAO:0000115 A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum NOT_TRANSLATED -en nl HP:0025435 rdfs:label Increased circulating lactate dehydrogenase concentration Toegenomen lactaatdehydrogenase activiteit CANDIDATE -en nl HP:0025435 IAO:0000115 An elevated level of the enzyme lactate dehydrogenase in the blood circulation An elevated level of the enzyme lactate dehydrogenase in the blood circulation NOT_TRANSLATED -en nl HP:0025436 rdfs:label Elevated serum 11-deoxycortisol Verhoogd serum 11-deoxycortisol CANDIDATE -en nl HP:0025436 IAO:0000115 Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone NOT_TRANSLATED -en nl HP:0025437 rdfs:label Macrocephalic sperm head Macrocephalic sperm head NOT_TRANSLATED -en nl HP:0025437 IAO:0000115 Increased size of the head of sperm Increased size of the head of sperm NOT_TRANSLATED -en nl HP:0025439 rdfs:label Pharyngitis Faryngitis CANDIDATE -en nl HP:0025439 IAO:0000115 Inflammation (due to infection or irritation) of the pharynx Inflammation (due to infection or irritation) of the pharynx NOT_TRANSLATED -en nl HP:0025440 rdfs:label Warm reactive autoantibody positivity Warmte-reactieve autoantistoffen positiviteit CANDIDATE -en nl HP:0025440 IAO:0000115 Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C NOT_TRANSLATED -en nl HP:0025441 rdfs:label Achilles tendon calcification Achillespees calcificatie CANDIDATE -en nl HP:0025441 IAO:0000115 Ectopic deposition of calcium salts in the Achilles tendon Ectopic deposition of calcium salts in the Achilles tendon NOT_TRANSLATED -en nl HP:0025443 rdfs:label Abnormal cardiac atrial physiology Afwijkende cardiaal atrium fysiologie CANDIDATE -en nl HP:0025443 IAO:0000115 An abnormality of the function of the cardiac atria An abnormality of the function of the cardiac atria NOT_TRANSLATED -en nl HP:0025444 rdfs:label Reduced amygdala volume Verminderd volume van amygdala CANDIDATE -en nl HP:0025444 IAO:0000115 A decrease in the volume (size) of the amygdyla A decrease in the volume (size) of the amygdyla NOT_TRANSLATED -en nl HP:0025445 rdfs:label Morphological abnormality of the papillary muscles Morfologische afwijking van de papillairspieren CANDIDATE -en nl HP:0025445 IAO:0000115 Any structural anomaly of the papillary muscles of the left ventricle Any structural anomaly of the papillary muscles of the left ventricle NOT_TRANSLATED -en nl HP:0025446 rdfs:label Anomalous insertion of papillary muscle directly into anterior mitral leaflet Anomalous insertion of papillary muscle directly into anterior mitral leaflet NOT_TRANSLATED -en nl HP:0025446 IAO:0000115 A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet NOT_TRANSLATED -en nl HP:0025447 rdfs:label Displacement of the papillary muscles Verplaatsing van de papillairspieren CANDIDATE -en nl HP:0025447 IAO:0000115 Abnormal location of the insertion of a papillary muscle into the left ventricular wall Abnormal location of the insertion of a papillary muscle into the left ventricular wall NOT_TRANSLATED -en nl HP:0025448 rdfs:label Anterior displacement of the papillary muscles Anterieure verplaatsing van de papillairspieren CANDIDATE -en nl HP:0025448 IAO:0000115 Abnormally anterior location of the papillary muscles of the left ventricle Abnormally anterior location of the papillary muscles of the left ventricle NOT_TRANSLATED -en nl HP:0025449 rdfs:label Apically displaced anterolateral papillary muscle Apicale verplaatsing van de papillairspieren CANDIDATE -en nl HP:0025449 IAO:0000115 Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, NOT_TRANSLATED -en nl HP:0025451 rdfs:label Testicular adrenal rest tumor Testiculaire adrenale rest tumor CANDIDATE -en nl HP:0025451 IAO:0000115 Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm NOT_TRANSLATED -en nl HP:0025452 rdfs:label Pyoderma gangrenosum Pyoderma gangrenosum CANDIDATE -en nl HP:0025452 IAO:0000115 A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer NOT_TRANSLATED -en nl HP:0025453 rdfs:label Delayed adrenarche Vertraagde adrenarche CANDIDATE -en nl HP:0025453 IAO:0000115 Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development NOT_TRANSLATED -en nl HP:0025454 rdfs:label Abnormal CSF metabolite concentration Afwijkend liquor metaboliet niveau CANDIDATE -en nl HP:0025454 IAO:0000115 Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0025455 rdfs:label Decreased CSF 5-hydroxyindolacetic acid concentration Verminderd liquor 5-hydroxyindolacetisch zuur CANDIDATE -en nl HP:0025455 IAO:0000115 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal NOT_TRANSLATED -en nl HP:0025456 rdfs:label Abnormal CSF protein concentration Afwijkend liquor eiwit niveau CANDIDATE -en nl HP:0025456 IAO:0000115 Any deviation from the normal range of a protein concentration in the cerebrospinal fluid Any deviation from the normal range of a protein concentration in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0025457 rdfs:label Decreased CSF protein concentration Verminderd liquor totaal eiwit CANDIDATE -en nl HP:0025457 IAO:0000115 CSF total protein level is below the lower limit of normal CSF total protein level is below the lower limit of normal NOT_TRANSLATED -en nl HP:0025458 rdfs:label Decreased CSF albumin concentration Verminderd liquor albumine CANDIDATE -en nl HP:0025458 IAO:0000115 CSF albumin level is below the lower limit of normal CSF albumin level is below the lower limit of normal NOT_TRANSLATED -en nl HP:0025459 rdfs:label Increased CSF/serum albumin ratio Verhoogd liquor/serum albumine ratio CANDIDATE -en nl HP:0025459 IAO:0000115 An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration NOT_TRANSLATED -en nl HP:0025460 rdfs:label High myoinositol in brain by MRS Hoog myo-inositol in de hersenen met MRS CANDIDATE -en nl HP:0025460 IAO:0000115 An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS) An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0025461 rdfs:label Abnormal cell morphology Afwijkende cel morfologie CANDIDATE -en nl HP:0025461 IAO:0000115 Any anomaly of cell structure Any anomaly of cell structure NOT_TRANSLATED -en nl HP:0025463 rdfs:label Abnormality of redox activity Afwijking van redox activiteit CANDIDATE -en nl HP:0025463 IAO:0000115 An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions NOT_TRANSLATED -en nl HP:0025464 rdfs:label Increased reactive oxygen species production Increased reactive oxygen species production NOT_TRANSLATED -en nl HP:0025464 IAO:0000115 An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage NOT_TRANSLATED -en nl HP:0025465 rdfs:label Abnormal circulating beta globulin level Afwijkend circulerend beta globuline niveau CANDIDATE -en nl HP:0025465 IAO:0000115 A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood NOT_TRANSLATED -en nl HP:0025466 rdfs:label Beta 2-microglobulinuria Bèta-2-microglobulinurie CANDIDATE -en nl HP:0025466 IAO:0000115 Increased level of beta 2-microglobulins in the urine Increased level of beta 2-microglobulins in the urine NOT_TRANSLATED -en nl HP:0025469 rdfs:label Anagen effluvium Anagene effluvium CANDIDATE -en nl HP:0025469 IAO:0000115 An abnormal loss of anagen (growth phase) hairs An abnormal loss of anagen (growth phase) hairs NOT_TRANSLATED -en nl HP:0025470 rdfs:label Telogen effluvium Telogene effluvium CANDIDATE -en nl HP:0025470 IAO:0000115 A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles NOT_TRANSLATED -en nl HP:0025471 rdfs:label Congenital panfollicular nevus Congenitale panfolliculaire naevus CANDIDATE -en nl HP:0025471 IAO:0000115 A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation NOT_TRANSLATED -en nl HP:0025472 rdfs:label Recurrent plantar mycosis Recidiverende plantaire mycose CANDIDATE -en nl HP:0025472 IAO:0000115 A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching NOT_TRANSLATED -en nl HP:0025473 rdfs:label Hyperpigmented papule Gehyperpigmenteerde papel CANDIDATE -en nl HP:0025473 IAO:0000115 A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin NOT_TRANSLATED -en nl HP:0025474 rdfs:label Erythematous plaque Erythemateuze plaque CANDIDATE -en nl HP:0025474 IAO:0000115 A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation NOT_TRANSLATED -en nl HP:0025475 rdfs:label Erythematous macule Erythemateuze macula CANDIDATE -en nl HP:0025475 IAO:0000115 A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation NOT_TRANSLATED -en nl HP:0025476 rdfs:label Testicular lipomatosis Testiculaire lipomatose CANDIDATE -en nl HP:0025476 IAO:0000115 Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm NOT_TRANSLATED -en nl HP:0025477 rdfs:label Periarticular calcification Periarticulaire calcificatie CANDIDATE -en nl HP:0025477 IAO:0000115 Calcified deposits in soft tissue structures outside a joint Calcified deposits in soft tissue structures outside a joint NOT_TRANSLATED -en nl HP:0025478 rdfs:label Atrial standstill Atriale stilstand CANDIDATE -en nl HP:0025478 IAO:0000115 Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram NOT_TRANSLATED -en nl HP:0025479 rdfs:label Self-neglect Zelfverwaarlozing CANDIDATE -en nl HP:0025479 IAO:0000115 Neglecting one's own needs and well-being Neglecting one's own needs and well-being NOT_TRANSLATED -en nl HP:0025480 rdfs:label Lipomyelomeningocele Lipomyelomeningocele CANDIDATE -en nl HP:0025480 IAO:0000115 A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft NOT_TRANSLATED -en nl HP:0025481 rdfs:label Cervical hemivertebrae Cervicale hemivertebrae CANDIDATE -en nl HP:0025481 IAO:0000115 Absence of one half of the vertebral body in the cervical spine Absence of one half of the vertebral body in the cervical spine NOT_TRANSLATED -en nl HP:0025482 rdfs:label Positive perchlorate discharge test Positieve perchloraat washout test CANDIDATE -en nl HP:0025482 IAO:0000115 An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid NOT_TRANSLATED -en nl HP:0025483 rdfs:label Abnormal circulating thyroglobulin level Afwijkend circulerend thyroglobuline niveau CANDIDATE -en nl HP:0025483 IAO:0000115 A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones NOT_TRANSLATED -en nl HP:0025484 rdfs:label Increased circulating thyroglobulin level Toegenomen circulerend thyroglobuline niveau CANDIDATE -en nl HP:0025484 IAO:0000115 An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones NOT_TRANSLATED -en nl HP:0025485 rdfs:label Vaginal adenosis Vaginale adenose CANDIDATE -en nl HP:0025485 IAO:0000115 Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life NOT_TRANSLATED -en nl HP:0025486 rdfs:label Fused labia majora Gefuseerde labia majora CANDIDATE -en nl HP:0025486 IAO:0000115 The outer labia are sealed together The outer labia are sealed together NOT_TRANSLATED -en nl HP:0025487 rdfs:label Abnormality of bladder morphology Afwijking van de morfologie van de blaas CANDIDATE -en nl HP:0025487 IAO:0000115 Any structural anomaly of the bladder Any structural anomaly of the bladder NOT_TRANSLATED -en nl HP:0025488 rdfs:label Detrusor sphincter dyssynergia Detrusor sfincter dyssynergie CANDIDATE -en nl HP:0025488 IAO:0000115 A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation NOT_TRANSLATED -en nl HP:0025489 rdfs:label Bladder duplication Blaas duplicatie CANDIDATE -en nl HP:0025489 IAO:0000115 A congenital anomaly characterized by the presence of two bladders A congenital anomaly characterized by the presence of two bladders NOT_TRANSLATED -en nl HP:0025490 rdfs:label Myocardial bridging Myocardbruggen CANDIDATE -en nl HP:0025490 IAO:0000115 A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course NOT_TRANSLATED -en nl HP:0025491 rdfs:label Venous stenosis Veneuze stenose CANDIDATE -en nl HP:0025491 IAO:0000115 Narrowing of a vein due to intimal hyperplasia and fibrosis Narrowing of a vein due to intimal hyperplasia and fibrosis NOT_TRANSLATED -en nl HP:0025492 rdfs:label Microcoria Microcorie CANDIDATE -en nl HP:0025492 IAO:0000115 A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs NOT_TRANSLATED -en nl HP:0025493 rdfs:label Palmoplantar erythema Palmoplantair erytheem CANDIDATE -en nl HP:0025493 IAO:0000115 Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED -en nl HP:0025494 rdfs:label Coated aorta Gecoate aorta CANDIDATE -en nl HP:0025494 IAO:0000115 Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans NOT_TRANSLATED -en nl HP:0025495 rdfs:label Descending aorta hypoplasia Hypoplastische aorta CANDIDATE -en nl HP:0025495 IAO:0000115 Significant luminal narrowing of a long segment of the descending aorta Significant luminal narrowing of a long segment of the descending aorta NOT_TRANSLATED -en nl HP:0025496 rdfs:label Abnormal coronary artery physiology Afwijkende coronairarterie fysiologie CANDIDATE -en nl HP:0025496 IAO:0000115 Any anomaly of the function of a coronary artery Any anomaly of the function of a coronary artery NOT_TRANSLATED -en nl HP:0025497 rdfs:label Coronary artery spasm Coronaire spasmen CANDIDATE -en nl HP:0025497 IAO:0000115 A brief and sudden narrowing of a coronary artery A brief and sudden narrowing of a coronary artery NOT_TRANSLATED -en nl HP:0025498 rdfs:label Aceruloplasminemia Aceruloplasminemie CANDIDATE -en nl HP:0025498 IAO:0000115 Absence of ceruloplasmin in the blood Absence of ceruloplasmin in the blood NOT_TRANSLATED -en nl HP:0025499 rdfs:label Class I obesity Klasse I obesitas CANDIDATE -en nl HP:0025499 IAO:0000115 Obesity with a body mass index of 30 to 34.9 kg per square meter Obesity with a body mass index of 30 to 34.9 kg per square meter NOT_TRANSLATED -en nl HP:0025500 rdfs:label Class II obesity Klasse II obesitas CANDIDATE -en nl HP:0025500 IAO:0000115 Obesity with a body mass index of 35 to 39.9 kg per square meter Obesity with a body mass index of 35 to 39.9 kg per square meter NOT_TRANSLATED -en nl HP:0025501 rdfs:label Class III obesity Klasse III obesitas CANDIDATE -en nl HP:0025501 IAO:0000115 Obesity with a body mass index of 40 kg per square meter or higher Obesity with a body mass index of 40 kg per square meter or higher NOT_TRANSLATED -en nl HP:0025502 rdfs:label Overweight Overgewicht CANDIDATE -en nl HP:0025502 IAO:0000115 Increased body weight with a body mass index of 25-29.9 kg per square meter Increased body weight with a body mass index of 25-29.9 kg per square meter NOT_TRANSLATED -en nl HP:0025503 rdfs:label Anomalous coronary artery arising from the opposite sinus Abnormale coronairearterie voortkomend uit tegenoverliggende sinus CANDIDATE -en nl HP:0025503 IAO:0000115 Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva NOT_TRANSLATED -en nl HP:0025505 rdfs:label Anomalous origin of the circumflex artery from the right sinus of Valsalva Anomalous origin of the circumflex artery from the right sinus of Valsalva NOT_TRANSLATED -en nl HP:0025505 IAO:0000115 The circumflex coronary artery originates from the right aortic sinus of Valsalva The circumflex coronary artery originates from the right aortic sinus of Valsalva NOT_TRANSLATED -en nl HP:0025506 rdfs:label Coronary artery sandwich anomaly Coronary artery sandwich anomaly NOT_TRANSLATED -en nl HP:0025506 IAO:0000115 Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, NOT_TRANSLATED -en nl HP:0025507 rdfs:label Yellow papule Gele papel CANDIDATE -en nl HP:0025507 IAO:0000115 A papule with yellow color A papule with yellow color NOT_TRANSLATED -en nl HP:0025508 rdfs:label Gottron's papules Gottronse papels CANDIDATE -en nl HP:0025508 IAO:0000115 Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints NOT_TRANSLATED -en nl HP:0025509 rdfs:label Piezogenic pedal papules Piezogene papels CANDIDATE -en nl HP:0025509 IAO:0000115 Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum NOT_TRANSLATED -en nl HP:0025510 rdfs:label Nevus spilus Naevus spilus CANDIDATE -en nl HP:0025510 IAO:0000115 A tan, regularly bordered patch with darker macules within the lesion A tan, regularly bordered patch with darker macules within the lesion NOT_TRANSLATED -en nl HP:0025511 rdfs:label Nevus sebaceus Naevus sebaceus CANDIDATE -en nl HP:0025511 IAO:0000115 A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood NOT_TRANSLATED -en nl HP:0025512 rdfs:label Skin-colored papule Huid-kleurige papel CANDIDATE -en nl HP:0025512 IAO:0000115 A papule with the same color as the surrounding skin A papule with the same color as the surrounding skin NOT_TRANSLATED -en nl HP:0025513 rdfs:label Scleral rupture Sclerale ruptuur CANDIDATE -en nl HP:0025513 IAO:0000115 Breakage of the sclera Breakage of the sclera NOT_TRANSLATED -en nl HP:0025514 rdfs:label Morning glory anomaly Morning glory anomalie CANDIDATE -en nl HP:0025514 IAO:0000115 An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic NOT_TRANSLATED -en nl HP:0025515 rdfs:label Delayed thelarche Vertraagde thelarche CANDIDATE -en nl HP:0025515 IAO:0000115 Later than normal development of the breasts Later than normal development of the breasts NOT_TRANSLATED -en nl HP:0025516 rdfs:label Coronary-pulmonary artery fistula Coronaire-pulmonale arteriële fistel CANDIDATE -en nl HP:0025516 IAO:0000115 A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery NOT_TRANSLATED -en nl HP:0025517 rdfs:label Hypoplastic hippocampus Hypoplastische hippocampus CANDIDATE -en nl HP:0025517 IAO:0000115 Underdevelopment of the hippocampus Underdevelopment of the hippocampus NOT_TRANSLATED -en nl HP:0025518 rdfs:label Visual gaze preference Visual gaze preference NOT_TRANSLATED -en nl HP:0025518 IAO:0000115 An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion NOT_TRANSLATED -en nl HP:0025519 rdfs:label Multiple biliary hamartomas Multipele biliaire hamartomas CANDIDATE -en nl HP:0025519 IAO:0000115 Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver NOT_TRANSLATED -en nl HP:0025520 rdfs:label Calcinosis cutis Calcinosis cutis CANDIDATE -en nl HP:0025520 IAO:0000115 Deposition of calcium in the skin Deposition of calcium in the skin NOT_TRANSLATED -en nl HP:0025521 rdfs:label Increased body fat percentage Toegenomen lichaamsvetpercentage CANDIDATE -en nl HP:0025521 IAO:0000115 The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males NOT_TRANSLATED -en nl HP:0025522 rdfs:label Elongated chordae tendinae of the mitral valve Elongated chordae tendinae of the mitral valve NOT_TRANSLATED -en nl HP:0025522 IAO:0000115 Abnormal increased in length of the chordae tendinae of the mitral valve Abnormal increased in length of the chordae tendinae of the mitral valve NOT_TRANSLATED -en nl HP:0025523 rdfs:label Abnormal morphology of the chordae tendinae of the mitral valve Abnormal morphology of the chordae tendinae of the mitral valve NOT_TRANSLATED -en nl HP:0025523 IAO:0000115 A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve NOT_TRANSLATED -en nl HP:0025524 rdfs:label Palmoplantar scaling skin Palmoplantar scaling skin NOT_TRANSLATED -en nl HP:0025524 IAO:0000115 Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot NOT_TRANSLATED -en nl HP:0025525 rdfs:label Scaling skin on fingertip Scaling skin on fingertip NOT_TRANSLATED -en nl HP:0025525 IAO:0000115 Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips NOT_TRANSLATED -en nl HP:0025526 rdfs:label Psoriasiform lesion Psoriasiforme laesie CANDIDATE -en nl HP:0025526 IAO:0000115 A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus NOT_TRANSLATED -en nl HP:0025527 rdfs:label Serpiginous cutaneous lesion Serpigineuze cutane laesie CANDIDATE -en nl HP:0025527 IAO:0000115 A skin lesion with a snake- or serpent-like distribution A skin lesion with a snake- or serpent-like distribution NOT_TRANSLATED -en nl HP:0025528 rdfs:label Annular cutaneous lesion Annulaire cutane laesie CANDIDATE -en nl HP:0025528 IAO:0000115 A lesion of the skin with a ring-like distribution A lesion of the skin with a ring-like distribution NOT_TRANSLATED -en nl HP:0025529 rdfs:label Hyperpigmented nodule Gehyperpigmenteerde nodulus CANDIDATE -en nl HP:0025529 IAO:0000115 A nodule of the skin that exhibits an increased amount of pigmentation A nodule of the skin that exhibits an increased amount of pigmentation NOT_TRANSLATED -en nl HP:0025530 rdfs:label Xanthomas of the palmar creases Xanthomas of the palmar creases NOT_TRANSLATED -en nl HP:0025530 IAO:0000115 The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin NOT_TRANSLATED -en nl HP:0025531 rdfs:label Harlequin phenomenon Harlekijnfenomeen CANDIDATE -en nl HP:0025531 IAO:0000115 The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body NOT_TRANSLATED -en nl HP:0025532 rdfs:label Positive pathergy test Positieve pathergie test CANDIDATE -en nl HP:0025532 IAO:0000115 With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result NOT_TRANSLATED -en nl HP:0025533 rdfs:label Peau d'orange Peau d'orange CANDIDATE -en nl HP:0025534 rdfs:label Ocular melanocytosis Oculaire melanocytose CANDIDATE -en nl HP:0025534 IAO:0000115 A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared NOT_TRANSLATED -en nl HP:0025535 rdfs:label Shawl sign Shawl sign CANDIDATE -en nl HP:0025535 IAO:0000115 Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back NOT_TRANSLATED -en nl HP:0025536 rdfs:label V-sign V-Sign CANDIDATE -en nl HP:0025536 IAO:0000115 Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest NOT_TRANSLATED -en nl HP:0025537 rdfs:label Plantar edema Plantair oedeem CANDIDATE -en nl HP:0025537 IAO:0000115 An abnormal accumulation of fluid beneath the skin on sole of the foot An abnormal accumulation of fluid beneath the skin on sole of the foot NOT_TRANSLATED -en nl HP:0025538 rdfs:label Palmar edema Palmair oedeem CANDIDATE -en nl HP:0025538 IAO:0000115 An abnormal accumulation of fluid beneath the skin on the palm of the hand An abnormal accumulation of fluid beneath the skin on the palm of the hand NOT_TRANSLATED -en nl HP:0025539 rdfs:label Abnormal B cell subset distribution Afwijkende B-cel subset distributie CANDIDATE -en nl HP:0025540 rdfs:label Abnormal T cell subset distribution Afwijkende T-cel subset distributie CANDIDATE -en nl HP:0025540 IAO:0000115 Any abnormality in the proportion T cells subsets relative to the total number of T cells Any abnormality in the proportion T cells subsets relative to the total number of T cells NOT_TRANSLATED -en nl HP:0025546 rdfs:label Abnormal mean corpuscular hemoglobin concentration Afwijkend MCH CANDIDATE -en nl HP:0025546 IAO:0000115 A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced NOT_TRANSLATED -en nl HP:0025547 rdfs:label Decreased mean corpuscular hemoglobin concentration Afgenomen MCH CANDIDATE -en nl HP:0025547 IAO:0000115 A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced NOT_TRANSLATED -en nl HP:0025548 rdfs:label Increased mean corpuscular hemoglobin concentration Toegenomen MCH CANDIDATE -en nl HP:0025548 IAO:0000115 An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell) An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell) NOT_TRANSLATED -en nl HP:0025549 rdfs:label Eccentric visual fixation Eccentrische visuele fixatie CANDIDATE -en nl HP:0025549 IAO:0000115 A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees NOT_TRANSLATED -en nl HP:0025550 rdfs:label Elevated circulating ribitol concentration Verhoogde circulerende ribitol concentratie CANDIDATE -en nl HP:0025550 IAO:0000115 An increase above the normal concentration of ribitol in the blood An increase above the normal concentration of ribitol in the blood NOT_TRANSLATED -en nl HP:0025551 rdfs:label Optic nerve misrouting Nervus opticus misrouting CANDIDATE -en nl HP:0025551 IAO:0000115 Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp) Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp) NOT_TRANSLATED -en nl HP:0025552 rdfs:label Periorbital purpura Periorbitale purpura CANDIDATE -en nl HP:0025552 IAO:0000115 Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding NOT_TRANSLATED -en nl HP:0025553 rdfs:label Periorbital ecchymosis with tarsal plate sparing Periorbital ecchymosis with tarsal plate sparing NOT_TRANSLATED -en nl HP:0025553 IAO:0000115 Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate NOT_TRANSLATED -en nl HP:0025554 rdfs:label Yellow nodule Gele nodulus CANDIDATE -en nl HP:0025554 IAO:0000115 A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion) A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion) NOT_TRANSLATED -en nl HP:0025555 rdfs:label Periungual teleangiectasia Periunguale teleangiëctasieën CANDIDATE -en nl HP:0025555 IAO:0000115 Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails NOT_TRANSLATED -en nl HP:0025558 rdfs:label Lamellar cataract with riders Lamellar cataract with riders NOT_TRANSLATED -en nl HP:0025558 IAO:0000115 Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens NOT_TRANSLATED -en nl HP:0025559 rdfs:label Coronary cataract Coronair cataract CANDIDATE -en nl HP:0025559 IAO:0000115 A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown NOT_TRANSLATED -en nl HP:0025560 rdfs:label Anterior chamber cells Voorste oogkamer cellen CANDIDATE -en nl HP:0025560 IAO:0000115 Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED -en nl HP:0025561 rdfs:label Anterior chamber cells grade 1+ Voorste oogkamer cellen graad 1+ CANDIDATE -en nl HP:0025561 IAO:0000115 Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED -en nl HP:0025562 rdfs:label Anterior chamber cells grade 0.5+ Voorste oogkamer cellen graad 0.5+ CANDIDATE -en nl HP:0025562 IAO:0000115 Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED -en nl HP:0025563 rdfs:label Anterior chamber cells grade 0 Voorste oogkamer cellen graad 0 CANDIDATE -en nl HP:0025563 IAO:0000115 Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED -en nl HP:0025564 rdfs:label Anterior chamber cells grade 2+ Voorste oogkamer cellen graad 2+ CANDIDATE -en nl HP:0025564 IAO:0000115 Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED -en nl HP:0025565 rdfs:label Anterior chamber cells grade 3+ Voorste oogkamer cellen graad 3+ CANDIDATE -en nl HP:0025565 IAO:0000115 Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED -en nl HP:0025566 rdfs:label Anterior chamber cells grade 4+ Voorste oogkamer cellen graad 4+ CANDIDATE -en nl HP:0025566 IAO:0000115 Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED -en nl HP:0025567 rdfs:label Central serous chorioretinopathy Centrale sereuze chorioretinopathie CANDIDATE -en nl HP:0025567 IAO:0000115 An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months NOT_TRANSLATED -en nl HP:0025568 rdfs:label Abnormal morphology of the choroidal vasculature Afwijkende morfologie van choroïdale vasculatuur CANDIDATE -en nl HP:0025569 rdfs:label Polypoidal choroidal vasculopathy Polypoïdale choroïdale vasculopathie CANDIDATE -en nl HP:0025569 IAO:0000115 The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization NOT_TRANSLATED -en nl HP:0025570 rdfs:label Choroidal vascular hyperpermeability Choroïdale vasculaire hyperpermeabiliteit CANDIDATE -en nl HP:0025570 IAO:0000115 Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA) Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA) NOT_TRANSLATED -en nl HP:0025571 rdfs:label Christmas tree cataract Kerstboom cataract CANDIDATE -en nl HP:0025571 IAO:0000115 A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree NOT_TRANSLATED -en nl HP:0025572 rdfs:label Punctal stenosis Punctal stenosis NOT_TRANSLATED -en nl HP:0025572 IAO:0000115 Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded NOT_TRANSLATED -en nl HP:0025573 rdfs:label Mild myopia Milde myopie CANDIDATE -en nl HP:0025573 IAO:0000115 A mild form of myopia with up to -3.00 diopters A mild form of myopia with up to -3.00 diopters NOT_TRANSLATED -en nl HP:0025574 rdfs:label Macular hemorrhage Macula bloeding CANDIDATE -en nl HP:0025574 IAO:0000115 Bleeding occurring within the macula lutea of the retina Bleeding occurring within the macula lutea of the retina NOT_TRANSLATED -en nl HP:0025575 rdfs:label Abnormal superior vena cava morphology Afwijkende vena cava superior morfologie CANDIDATE -en nl HP:0025575 IAO:0000115 Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart NOT_TRANSLATED -en nl HP:0025576 rdfs:label Abnormal inferior vena cava morphology Afwijkende vena cava inferior morfologie CANDIDATE -en nl HP:0025576 IAO:0000115 Any structural anomaly of the principal vein draining blood from the lower portion of the body Any structural anomaly of the principal vein draining blood from the lower portion of the body NOT_TRANSLATED -en nl HP:0025578 rdfs:label Aortic valve prolapse Aortaklepprolaps CANDIDATE -en nl HP:0025578 IAO:0000115 Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus NOT_TRANSLATED -en nl HP:0025579 rdfs:label Abnormal left atrium morphology Afwijkende linker atrium morfologie CANDIDATE -en nl HP:0025579 IAO:0000115 Any structural abnormality of the left atrium Any structural abnormality of the left atrium NOT_TRANSLATED -en nl HP:0025580 rdfs:label Abnormal right atrium morphology Afwijkende rechter atrium morfologie CANDIDATE -en nl HP:0025580 IAO:0000115 Any structural abnormality of the right atrium Any structural abnormality of the right atrium NOT_TRANSLATED -en nl HP:0025581 rdfs:label Foveal hemorrhage Foveale bloeding CANDIDATE -en nl HP:0025581 IAO:0000115 Bleeding occurring within the fovea Bleeding occurring within the fovea NOT_TRANSLATED -en nl HP:0025582 rdfs:label Submacular hemorrhage Submaculaire bloeding CANDIDATE -en nl HP:0025582 IAO:0000115 Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation NOT_TRANSLATED -en nl HP:0025583 rdfs:label Tapetal-like fundal reflex Tapetal-like fundal reflex NOT_TRANSLATED -en nl HP:0025583 IAO:0000115 Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals NOT_TRANSLATED -en nl HP:0025584 rdfs:label Hypotropia Hypotropie CANDIDATE -en nl HP:0025584 IAO:0000115 A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open NOT_TRANSLATED -en nl HP:0025585 rdfs:label Hyperphoria Hyperforie CANDIDATE -en nl HP:0025585 IAO:0000115 Tendency for the visual axis of one eye to be higher than that of the other Tendency for the visual axis of one eye to be higher than that of the other NOT_TRANSLATED -en nl HP:0025586 rdfs:label Hypertropia Hypertropie CANDIDATE -en nl HP:0025586 IAO:0000115 A type of strabismus characterized by permanent upward deviation of the visual axis of one eye A type of strabismus characterized by permanent upward deviation of the visual axis of one eye NOT_TRANSLATED -en nl HP:0025587 rdfs:label Hyperdeviation Hyperdeviatie CANDIDATE -en nl HP:0025587 IAO:0000115 A type of strabismus in which the visual axis of one eye is higher than that of the other A type of strabismus in which the visual axis of one eye is higher than that of the other NOT_TRANSLATED -en nl HP:0025588 rdfs:label Hypodeviation Hypodeviatie CANDIDATE -en nl HP:0025588 IAO:0000115 A type of strabismus in which the visual axis of one eye is lower than that of the other A type of strabismus in which the visual axis of one eye is lower than that of the other NOT_TRANSLATED -en nl HP:0025589 rdfs:label Cyclodeviation Cyclodeviatie CANDIDATE -en nl HP:0025589 IAO:0000115 Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes NOT_TRANSLATED -en nl HP:0025590 rdfs:label Abnormal extraocular muscle physiology Afwijkende extraoculaire spier fysiologie CANDIDATE -en nl HP:0025590 IAO:0000115 A functional anomaly of the muscles of the eye A functional anomaly of the muscles of the eye NOT_TRANSLATED -en nl HP:0025591 rdfs:label Abnormal superior oblique muscle physiology Afwijkende musculus obliquus superior fysiologie CANDIDATE -en nl HP:0025591 IAO:0000115 A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve NOT_TRANSLATED -en nl HP:0025592 rdfs:label Superior oblique muscle weakness Spierzwakte van de musculus obliquus superior CANDIDATE -en nl HP:0025592 IAO:0000115 Decreased strength of the superior oblique muscle Decreased strength of the superior oblique muscle NOT_TRANSLATED -en nl HP:0025593 rdfs:label Superior oblique muscle restriction Musculus obliquus superior spierbeperking CANDIDATE -en nl HP:0025593 IAO:0000115 Mechanical limitation of the range of movement of the superior oblique muscle Mechanical limitation of the range of movement of the superior oblique muscle NOT_TRANSLATED -en nl HP:0025594 rdfs:label Superior oblique muscle overaction Musculus obliquus superior overbelasting CANDIDATE -en nl HP:0025594 IAO:0000115 An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye NOT_TRANSLATED -en nl HP:0025595 rdfs:label Superior oblique muscle underaction Musculus obliquus superior onderbelasting CANDIDATE -en nl HP:0025595 IAO:0000115 Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED -en nl HP:0025596 rdfs:label Abnormal inferior oblique muscle physiology Afwijkende musculus obliquus inferior fysiologie CANDIDATE -en nl HP:0025596 IAO:0000115 A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve NOT_TRANSLATED -en nl HP:0025597 rdfs:label Inferior oblique muscle restriction Musculus obliquus inferior spierbeperking CANDIDATE -en nl HP:0025597 IAO:0000115 Mechanical limitation of the range of movement of the inferior oblique muscle Mechanical limitation of the range of movement of the inferior oblique muscle NOT_TRANSLATED -en nl HP:0025598 rdfs:label Inferior oblique muscle weakness Spierzwakte van de musculus obliquus inferior CANDIDATE -en nl HP:0025598 IAO:0000115 Decreased strength of the inferior oblique muscle Decreased strength of the inferior oblique muscle NOT_TRANSLATED -en nl HP:0025599 rdfs:label Inferior oblique muscle overaction Musculus obliquus inferior overbelasting CANDIDATE -en nl HP:0025599 IAO:0000115 A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye NOT_TRANSLATED -en nl HP:0025600 rdfs:label Abnormal inferior rectus muscle physiology Afwijkende musculus rectus inferior bulbi fysiologie CANDIDATE -en nl HP:0025600 IAO:0000115 A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye NOT_TRANSLATED -en nl HP:0025601 rdfs:label Inferior rectus muscle weakness Spierzwakte van de musculus rectus inferior bulbi CANDIDATE -en nl HP:0025601 IAO:0000115 Decreased strength of the inferior rectus muscle Decreased strength of the inferior rectus muscle NOT_TRANSLATED -en nl HP:0025602 rdfs:label Inferior rectus muscle restriction Musculus rectus inferior bulbi spierbeperking CANDIDATE -en nl HP:0025602 IAO:0000115 Mechanical limitation of the range of movement of the inferior rectus muscle Mechanical limitation of the range of movement of the inferior rectus muscle NOT_TRANSLATED -en nl HP:0025603 rdfs:label Abnormal superior rectus muscle physiology Afwijkende musculus rectus superior bulbi fysiologie CANDIDATE -en nl HP:0025603 IAO:0000115 A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe NOT_TRANSLATED -en nl HP:0025604 rdfs:label Orbital schwannoma Orbitaal schwannoom CANDIDATE -en nl HP:0025604 IAO:0000115 A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit NOT_TRANSLATED -en nl HP:0025605 rdfs:label Lid lag on downgaze Lid lag on downgaze NOT_TRANSLATED -en nl HP:0025605 IAO:0000115 Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign NOT_TRANSLATED -en nl HP:0025606 rdfs:label Abnormal medial rectus muscle physiology Afwijkende musculus rectus medialis bulbi fysiologie CANDIDATE -en nl HP:0025606 IAO:0000115 A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball NOT_TRANSLATED -en nl HP:0025607 rdfs:label Upper eyelid entropion Bovenste ooglid entropion CANDIDATE -en nl HP:0025607 IAO:0000115 An inward turning (inversion) of the margin of the upper eyelid An inward turning (inversion) of the margin of the upper eyelid NOT_TRANSLATED -en nl HP:0025608 rdfs:label Cicatricial ectropion Cicatricieel ectropion CANDIDATE -en nl HP:0025608 IAO:0000115 An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring NOT_TRANSLATED -en nl HP:0025609 rdfs:label Anterior blepharitis Anterieure blefaritis CANDIDATE -en nl HP:0025609 IAO:0000115 A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles NOT_TRANSLATED -en nl HP:0025610 rdfs:label Posterior blepharitis Posterieure blefaritis CANDIDATE -en nl HP:0025610 IAO:0000115 A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia NOT_TRANSLATED -en nl HP:0025611 rdfs:label Epicanthus superciliaris Epicanthus superciliaris CANDIDATE -en nl HP:0025611 IAO:0000115 A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye) A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye) NOT_TRANSLATED -en nl HP:0025612 rdfs:label Corneal astigmatism Corneaal astigmatisme CANDIDATE -en nl HP:0025612 IAO:0000115 A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea NOT_TRANSLATED -en nl HP:0025613 rdfs:label Focal emotional seizure Focal emotional seizure NOT_TRANSLATED -en nl HP:0025613 IAO:0000115 Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer NOT_TRANSLATED -en nl HP:0025615 rdfs:label Abscess Abscess NOT_TRANSLATED -en nl HP:0025616 rdfs:label Sterile abscess Sterile abscess NOT_TRANSLATED -en nl HP:0025616 IAO:0000115 An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms NOT_TRANSLATED -en nl HP:0025617 rdfs:label Abnormal plasma cell count Abnormal plasma cell count NOT_TRANSLATED -en nl HP:0025617 IAO:0000115 An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies NOT_TRANSLATED -en nl HP:0025618 rdfs:label Reduced plasma cell count Reduced plasma cell count NOT_TRANSLATED -en nl HP:0025618 IAO:0000115 An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies NOT_TRANSLATED -en nl HP:0025619 rdfs:label Elevated plasma cell count Elevated plasma cell count NOT_TRANSLATED -en nl HP:0025619 IAO:0000115 An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies NOT_TRANSLATED -en nl HP:0025620 rdfs:label Abnormal proportion of CD4+ central memory cells Abnormal proportion of CD4+ central memory cells NOT_TRANSLATED -en nl HP:0025620 IAO:0000115 An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype NOT_TRANSLATED -en nl HP:0025623 rdfs:label Abnormal proportion of CD4+ effector memory cells Abnormal proportion of CD4+ effector memory cells NOT_TRANSLATED -en nl HP:0025623 IAO:0000115 An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0025624 rdfs:label Reduced proportion of CD4+ effector memory T cells Reduced proportion of CD4+ effector memory T cells NOT_TRANSLATED -en nl HP:0025624 IAO:0000115 An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED -en nl HP:0025625 rdfs:label Elevated proportion of CD4+ effector memory T cells Elevated proportion of CD4+ effector memory T cells NOT_TRANSLATED -en nl HP:0025625 IAO:0000115 An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype NOT_TRANSLATED -en nl HP:0025626 rdfs:label Increased circulating oleate level Increased circulating oleate level NOT_TRANSLATED -en nl HP:0025626 IAO:0000115 An abnormally high concentration of oleic acid (oleate) in the blood circulation An abnormally high concentration of oleic acid (oleate) in the blood circulation NOT_TRANSLATED -en nl HP:0025627 rdfs:label Increased circulating octadecanoate level Increased circulating octadecanoate level NOT_TRANSLATED -en nl HP:0025627 IAO:0000115 An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid) An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid) NOT_TRANSLATED -en nl HP:0025628 rdfs:label Increased circulating myristoleate level Increased circulating myristoleate level NOT_TRANSLATED -en nl HP:0025628 IAO:0000115 An abnormally high concentration of myristoleate in the blood circulation An abnormally high concentration of myristoleate in the blood circulation NOT_TRANSLATED -en nl HP:0025629 rdfs:label Anti-myelin-associated glycoprotein antibody positivity Anti-myelin-associated glycoprotein antibody positivity NOT_TRANSLATED -en nl HP:0025629 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG) The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG) NOT_TRANSLATED -en nl HP:0025630 rdfs:label Argininosuccinic aciduria Argininosuccinic aciduria NOT_TRANSLATED -en nl HP:0025630 IAO:0000115 Increased amount of argininosuccinate in the urine Increased amount of argininosuccinate in the urine NOT_TRANSLATED -en nl HP:0025631 rdfs:label Alpha-aminobutyric aciduria Alpha-aminobutyric aciduria NOT_TRANSLATED -en nl HP:0025631 IAO:0000115 Increased amount of alpha-aminobutyric acid in the urine Increased amount of alpha-aminobutyric acid in the urine NOT_TRANSLATED -en nl HP:0025632 rdfs:label Reduced reactive oxygen species production in neutrophils Reduced reactive oxygen species production in neutrophils NOT_TRANSLATED -en nl HP:0025633 rdfs:label Abnormal ureter morphology Abnormal ureter morphology NOT_TRANSLATED -en nl HP:0025633 IAO:0000115 A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder NOT_TRANSLATED -en nl HP:0025634 rdfs:label Abnormal ureter physiology Abnormal ureter physiology NOT_TRANSLATED -en nl HP:0025634 IAO:0000115 A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder NOT_TRANSLATED -en nl HP:0025635 rdfs:label Ureteral polyp Ureteral polyp NOT_TRANSLATED -en nl HP:0025635 IAO:0000115 A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk NOT_TRANSLATED -en nl HP:0025636 rdfs:label Endometritis Endometritis NOT_TRANSLATED -en nl HP:0025636 IAO:0000115 Inflammation of the inner lining of the uterus (endometrium) Inflammation of the inner lining of the uterus (endometrium) NOT_TRANSLATED -en nl HP:0025637 rdfs:label Vasospasm Vasospasm NOT_TRANSLATED -en nl HP:0025637 IAO:0000115 Narrowing of an artery due to constriction of the blood vessels Narrowing of an artery due to constriction of the blood vessels NOT_TRANSLATED -en nl HP:0025638 rdfs:label Elevated urinary N-butyrylglycine Elevated urinary N-butyrylglycine NOT_TRANSLATED -en nl HP:0025638 IAO:0000115 An increased level of N-butyrylglycine in the urine An increased level of N-butyrylglycine in the urine NOT_TRANSLATED -en nl HP:0025639 rdfs:label Increased urinary zinc level Increased urinary zinc level NOT_TRANSLATED -en nl HP:0025639 IAO:0000115 An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection NOT_TRANSLATED -en nl HP:0025640 rdfs:label Abnormal urinary mineral level Abnormal urinary mineral level NOT_TRANSLATED -en nl HP:0025640 IAO:0000115 An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium NOT_TRANSLATED -en nl HP:0025641 rdfs:label Elevated circulating glycolate concentration Elevated circulating glycolate concentration NOT_TRANSLATED -en nl HP:0025641 IAO:0000115 An abnormally increased concentration of glycolate in the blood circulation An abnormally increased concentration of glycolate in the blood circulation NOT_TRANSLATED -en nl HP:0025643 rdfs:label Tarlov cyst Tarlov cyst NOT_TRANSLATED -en nl HP:0025643 IAO:0000115 A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine NOT_TRANSLATED -en nl HP:0025644 rdfs:label Fixation-off epileptiform discharges Fixation-off epileptiform discharges NOT_TRANSLATED -en nl HP:0025644 IAO:0000115 Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG) Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG) NOT_TRANSLATED -en nl HP:0025646 rdfs:label Bilateral polymicrogyria Bilateral polymicrogyria NOT_TRANSLATED -en nl HP:0025646 IAO:0000115 Polymicrogyria that affects all or some of both cerebral hemispheres Polymicrogyria that affects all or some of both cerebral hemispheres NOT_TRANSLATED -en nl HP:0025647 rdfs:label Steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome NOT_TRANSLATED -en nl HP:0025647 IAO:0000115 A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy NOT_TRANSLATED -en nl HP:0025648 rdfs:label Steroid-sensitive nephrotic syndrome with infrequent relapses Steroid-sensitive nephrotic syndrome with infrequent relapses NOT_TRANSLATED -en nl HP:0025648 IAO:0000115 A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period NOT_TRANSLATED -en nl HP:0025649 rdfs:label Steroid-sensitive nephrotic syndrome with frequent relapses Steroid-sensitive nephrotic syndrome with frequent relapses NOT_TRANSLATED -en nl HP:0025649 IAO:0000115 A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period NOT_TRANSLATED -en nl HP:0025650 rdfs:label Steroid-dependent nephrotic syndrome Steroid-dependent nephrotic syndrome NOT_TRANSLATED -en nl HP:0025650 IAO:0000115 A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy NOT_TRANSLATED -en nl HP:0025652 rdfs:label Abnormal placental adhesion into the uterine wall Abnormal placental adhesion into the uterine wall NOT_TRANSLATED -en nl HP:0025652 IAO:0000115 Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta NOT_TRANSLATED -en nl HP:0025653 rdfs:label Placenta percreta Placenta percreta NOT_TRANSLATED -en nl HP:0025653 IAO:0000115 Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs NOT_TRANSLATED -en nl HP:0025654 rdfs:label Placenta acreta Placenta acreta NOT_TRANSLATED -en nl HP:0025654 IAO:0000115 Abnormally firm adherence of the placenta to the uterine wall Abnormally firm adherence of the placenta to the uterine wall NOT_TRANSLATED -en nl HP:0025655 rdfs:label Placenta increta Placenta increta NOT_TRANSLATED -en nl HP:0025655 IAO:0000115 Abnormal placental pentration into but not beyond the uterine wall Abnormal placental pentration into but not beyond the uterine wall NOT_TRANSLATED -en nl HP:0025656 rdfs:label Prenatal double bubble sign Prenatal double bubble sign NOT_TRANSLATED -en nl HP:0025656 IAO:0000115 Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign NOT_TRANSLATED -en nl HP:0025657 rdfs:label Abnormal umbilical blood flow measurement Abnormal umbilical blood flow measurement NOT_TRANSLATED -en nl HP:0025659 rdfs:label Decreased circulating creatine kinase concentration Decreased circulating creatine kinase concentration NOT_TRANSLATED -en nl HP:0025659 IAO:0000115 A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood NOT_TRANSLATED -en nl HP:0025660 rdfs:label Chiari type II malformation Chiari type II malformation NOT_TRANSLATED -en nl HP:0025660 IAO:0000115 A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele NOT_TRANSLATED -en nl HP:0025661 rdfs:label Chiari type III malformation Chiari type III malformation NOT_TRANSLATED -en nl HP:0025661 IAO:0000115 A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele NOT_TRANSLATED -en nl HP:0025662 rdfs:label Abnormal fetal skeletal morphology Abnormal fetal skeletal morphology NOT_TRANSLATED -en nl HP:0025662 IAO:0000115 An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0025663 rdfs:label Reduced fetal femur/foot length ratio Reduced fetal femur/foot length ratio NOT_TRANSLATED -en nl HP:0025663 IAO:0000115 This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors NOT_TRANSLATED -en nl HP:0025664 rdfs:label Moderate to late preterm birth Moderate to late preterm birth NOT_TRANSLATED -en nl HP:0025664 IAO:0000115 Birth at 32 to 36 completed weeks of gestation Birth at 32 to 36 completed weeks of gestation NOT_TRANSLATED -en nl HP:0025665 rdfs:label Extremely preterm birth Extremely preterm birth NOT_TRANSLATED -en nl HP:0025665 IAO:0000115 Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation) Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation) NOT_TRANSLATED -en nl HP:0025666 rdfs:label Very preterm birth Very preterm birth NOT_TRANSLATED -en nl HP:0025666 IAO:0000115 Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks) Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks) NOT_TRANSLATED -en nl HP:0025667 rdfs:label Fetal neck anomaly Fetal neck anomaly NOT_TRANSLATED -en nl HP:0025667 IAO:0000115 A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0025668 rdfs:label Abnormal neck morphology Abnormal neck morphology NOT_TRANSLATED -en nl HP:0025668 IAO:0000115 Any structural anomaly of the neck region Any structural anomaly of the neck region NOT_TRANSLATED -en nl HP:0025669 rdfs:label Abnormal neck physiology Abnormal neck physiology NOT_TRANSLATED -en nl HP:0025669 IAO:0000115 Any functional anomaly of the neck region Any functional anomaly of the neck region NOT_TRANSLATED -en nl HP:0025670 rdfs:label Syntelencephaly Syntelencephaly NOT_TRANSLATED -en nl HP:0025670 IAO:0000115 Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions NOT_TRANSLATED -en nl HP:0025671 rdfs:label Fetal pericardial effusion Fetal pericardial effusion NOT_TRANSLATED -en nl HP:0025671 IAO:0000115 An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms NOT_TRANSLATED -en nl HP:0025672 rdfs:label Fetal skin edema Fetal skin edema NOT_TRANSLATED -en nl HP:0025672 IAO:0000115 A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue NOT_TRANSLATED -en nl HP:0025673 rdfs:label Loculated ascites Loculated ascites NOT_TRANSLATED -en nl HP:0025673 IAO:0000115 A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection NOT_TRANSLATED -en nl HP:0025674 rdfs:label Meconium pseudocyst Meconium pseudocyst NOT_TRANSLATED -en nl HP:0025674 IAO:0000115 A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst NOT_TRANSLATED -en nl HP:0025675 rdfs:label Premature closure of the ductus arteriosus Premature closure of the ductus arteriosus NOT_TRANSLATED -en nl HP:0025675 IAO:0000115 A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery) A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery) NOT_TRANSLATED -en nl HP:0025676 rdfs:label Fetal pleural effusion Fetal pleural effusion NOT_TRANSLATED -en nl HP:0025676 IAO:0000115 Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops NOT_TRANSLATED -en nl HP:0025677 rdfs:label Fetal chylothorax Fetal chylothorax NOT_TRANSLATED -en nl HP:0025677 IAO:0000115 The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus NOT_TRANSLATED -en nl HP:0025678 rdfs:label Fetal hydrothorax Fetal hydrothorax NOT_TRANSLATED -en nl HP:0025678 IAO:0000115 Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed NOT_TRANSLATED -en nl HP:0025679 rdfs:label Diskitis Diskitis NOT_TRANSLATED -en nl HP:0025679 IAO:0000115 Inflammation of an intervertebral disc or disk space Inflammation of an intervertebral disc or disk space NOT_TRANSLATED -en nl HP:0025680 rdfs:label Compound muscle action potential amplitude facilitation Compound muscle action potential amplitude facilitation NOT_TRANSLATED -en nl HP:0025680 IAO:0000115 Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction NOT_TRANSLATED -en nl HP:0025681 rdfs:label Distal clavicular thinning Distal clavicular thinning NOT_TRANSLATED -en nl HP:0025681 IAO:0000115 Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region NOT_TRANSLATED -en nl HP:0025682 rdfs:label Crouch gait Crouch gait NOT_TRANSLATED -en nl HP:0025682 IAO:0000115 A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase NOT_TRANSLATED -en nl HP:0025683 rdfs:label Abnormal amyloid beta 42 peptide CSF concentration Abnormal amyloid beta 42 peptide CSF concentration NOT_TRANSLATED -en nl HP:0025683 IAO:0000115 Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form NOT_TRANSLATED -en nl HP:0025684 rdfs:label Decreased amyloid beta 42 peptide CSF concentration Decreased amyloid beta 42 peptide CSF concentration NOT_TRANSLATED -en nl HP:0025684 IAO:0000115 A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0025685 rdfs:label Increased amyloid beta 42 peptide CSF concentration Increased amyloid beta 42 peptide CSF concentration NOT_TRANSLATED -en nl HP:0025685 IAO:0000115 An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0025686 rdfs:label Abnormal amyloid beta 40 peptide CSF concentration Abnormal amyloid beta 40 peptide CSF concentration NOT_TRANSLATED -en nl HP:0025686 IAO:0000115 Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form NOT_TRANSLATED -en nl HP:0025687 rdfs:label Increased amyloid beta 40 peptide CSF concentration Increased amyloid beta 40 peptide CSF concentration NOT_TRANSLATED -en nl HP:0025687 IAO:0000115 An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF) An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0025688 rdfs:label Abnormal amyloid beta peptide CSF concentration Abnormal amyloid beta peptide CSF concentration NOT_TRANSLATED -en nl HP:0025688 IAO:0000115 Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0025689 rdfs:label Extra-abdominal umbilical vein varix Extra-abdominal umbilical vein varix NOT_TRANSLATED -en nl HP:0025689 IAO:0000115 Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth NOT_TRANSLATED -en nl HP:0025690 rdfs:label Fetal intra-abdominal umbilical vein varix Fetal intra-abdominal umbilical vein varix NOT_TRANSLATED -en nl HP:0025690 IAO:0000115 Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age NOT_TRANSLATED -en nl HP:0025691 rdfs:label Impaired fasting glucose Impaired fasting glucose NOT_TRANSLATED -en nl HP:0025691 IAO:0000115 Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG NOT_TRANSLATED -en nl HP:0025692 rdfs:label Atelencephaly Atelencephaly NOT_TRANSLATED -en nl HP:0025692 IAO:0000115 A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops) A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops) NOT_TRANSLATED -en nl HP:0025693 rdfs:label Pituitary macroadenoma Pituitary macroadenoma NOT_TRANSLATED -en nl HP:0025693 IAO:0000115 A pituitary gland adenoma that is larger than 10mm A pituitary gland adenoma that is larger than 10mm NOT_TRANSLATED -en nl HP:0025694 rdfs:label Pituitary microadenoma Pituitary microadenoma NOT_TRANSLATED -en nl HP:0025694 IAO:0000115 A pituitary adenoma that is less than 10 mm in diameter A pituitary adenoma that is less than 10 mm in diameter NOT_TRANSLATED -en nl HP:0025695 rdfs:label Mucus plug Mucus plug NOT_TRANSLATED -en nl HP:0025695 IAO:0000115 Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection NOT_TRANSLATED -en nl HP:0025696 rdfs:label Airway casts Airway casts NOT_TRANSLATED -en nl HP:0025696 IAO:0000115 A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts NOT_TRANSLATED -en nl HP:0025697 rdfs:label Fibrin casts Fibrin casts NOT_TRANSLATED -en nl HP:0025697 IAO:0000115 A type of airway casts that consist of plasma components and inflammatory cells A type of airway casts that consist of plasma components and inflammatory cells NOT_TRANSLATED -en nl HP:0025698 rdfs:label Mucin casts Mucin casts NOT_TRANSLATED -en nl HP:0025698 IAO:0000115 A type of airway casts that consist of impacted mucus A type of airway casts that consist of impacted mucus NOT_TRANSLATED -en nl HP:0025699 rdfs:label Perisylvian FDG hypermetabolism Perisylvian FDG hypermetabolism NOT_TRANSLATED -en nl HP:0025699 IAO:0000115 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure NOT_TRANSLATED -en nl HP:0025700 rdfs:label Anhydramnios Anhydramnios NOT_TRANSLATED -en nl HP:0025700 IAO:0000115 A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm NOT_TRANSLATED -en nl HP:0025701 rdfs:label Distended jugular lymphatic sacs Distended jugular lymphatic sacs NOT_TRANSLATED -en nl HP:0025701 IAO:0000115 The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency NOT_TRANSLATED -en nl HP:0025702 rdfs:label Type 1 schizencephaly Type 1 schizencephaly NOT_TRANSLATED -en nl HP:0025702 IAO:0000115 A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging NOT_TRANSLATED -en nl HP:0025703 rdfs:label Type 2 schizencephaly Type 2 schizencephaly NOT_TRANSLATED -en nl HP:0025703 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other NOT_TRANSLATED -en nl HP:0025704 rdfs:label Type 3 schizencephaly Type 3 schizencephaly NOT_TRANSLATED -en nl HP:0025704 IAO:0000115 A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter NOT_TRANSLATED -en nl HP:0025705 rdfs:label Abnormal fetal nasal bone visualization Abnormal fetal nasal bone visualization NOT_TRANSLATED -en nl HP:0025705 IAO:0000115 Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age NOT_TRANSLATED -en nl HP:0025706 rdfs:label Absent fetal nasal bone Absent fetal nasal bone NOT_TRANSLATED -en nl HP:0025706 IAO:0000115 The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy NOT_TRANSLATED -en nl HP:0025707 rdfs:label Hypoplastic nasal bone Hypoplastic nasal bone NOT_TRANSLATED -en nl HP:0025707 IAO:0000115 Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques NOT_TRANSLATED -en nl HP:0025708 rdfs:label Early young adult onset Early young adult onset NOT_TRANSLATED -en nl HP:0025708 IAO:0000115 Onset of disease at an age of greater than or equal to 16 to under 19 years Onset of disease at an age of greater than or equal to 16 to under 19 years NOT_TRANSLATED -en nl HP:0025709 rdfs:label Intermediate young adult onset Intermediate young adult onset NOT_TRANSLATED -en nl HP:0025709 IAO:0000115 Onset of disease at an age of greater than or equal to 19 to under 25 years Onset of disease at an age of greater than or equal to 19 to under 25 years NOT_TRANSLATED -en nl HP:0025710 rdfs:label Late young adult onset Late young adult onset NOT_TRANSLATED -en nl HP:0025710 IAO:0000115 Onset of disease at an age of greater than or equal to 25 to under 40 years Onset of disease at an age of greater than or equal to 25 to under 40 years NOT_TRANSLATED -en nl HP:0025711 rdfs:label Convergence-retraction nystagmus Convergence-retraction nystagmus NOT_TRANSLATED -en nl HP:0025711 IAO:0000115 Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze NOT_TRANSLATED -en nl HP:0025712 rdfs:label Spontaneous chorioamniotic separation Spontaneous chorioamniotic separation NOT_TRANSLATED -en nl HP:0025712 IAO:0000115 Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis) Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis) NOT_TRANSLATED -en nl HP:0025713 rdfs:label Neurite dystrophy Neurite dystrophy NOT_TRANSLATED -en nl HP:0025713 IAO:0000115 Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins NOT_TRANSLATED -en nl HP:0025714 rdfs:label Cerebral cortical microinfarct Cerebral cortical microinfarct NOT_TRANSLATED -en nl HP:0025714 IAO:0000115 An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions NOT_TRANSLATED -en nl HP:0025715 rdfs:label Abnormal umbilical artery doppler waveform during pregnancy Abnormal umbilical artery doppler waveform during pregnancy NOT_TRANSLATED -en nl HP:0025715 IAO:0000115 Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester NOT_TRANSLATED -en nl HP:0025716 rdfs:label Fetal anemia Fetal anemia NOT_TRANSLATED -en nl HP:0025716 IAO:0000115 Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery NOT_TRANSLATED -en nl HP:0025717 rdfs:label Skeletal muscle autophagosome accumulation Skeletal muscle autophagosome accumulation NOT_TRANSLATED -en nl HP:0025717 IAO:0000115 Abnormal accumulation of autophagosomes in skeletal muscle tissue Abnormal accumulation of autophagosomes in skeletal muscle tissue NOT_TRANSLATED -en nl HP:0025718 rdfs:label Skeletal muscle hyperechogenicity Skeletal muscle hyperechogenicity NOT_TRANSLATED -en nl HP:0025718 IAO:0000115 An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation NOT_TRANSLATED -en nl HP:0025719 rdfs:label Maternal vascular malperfusion Maternal vascular malperfusion NOT_TRANSLATED -en nl HP:0025719 IAO:0000115 Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities NOT_TRANSLATED -en nl HP:0025720 rdfs:label Limited horizontal extraocular movement Limited horizontal extraocular movement NOT_TRANSLATED -en nl HP:0025720 IAO:0000115 Limited mobility of the eye to move from side to side (horizontally) within its socket Limited mobility of the eye to move from side to side (horizontally) within its socket NOT_TRANSLATED -en nl HP:0025721 rdfs:label Limited vertical extraocular movement Limited vertical extraocular movement NOT_TRANSLATED -en nl HP:0025721 IAO:0000115 Limited mobility of the eye to move up and down (vertically) within its socket Limited mobility of the eye to move up and down (vertically) within its socket NOT_TRANSLATED -en nl HP:0025722 rdfs:label Cerebral infarct Cerebral infarct NOT_TRANSLATED -en nl HP:0025722 IAO:0000115 A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors NOT_TRANSLATED -en nl HP:0025723 rdfs:label Abnormal fetal skin morphology Abnormal fetal skin morphology NOT_TRANSLATED -en nl HP:0025723 IAO:0000115 Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED -en nl HP:0550003 rdfs:label Proximal scleroderma Proximale sclerodermie CANDIDATE -en nl HP:0550003 IAO:0000115 Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk NOT_TRANSLATED -en nl HP:0025724 rdfs:label Caseous vernix-like desquamation Caseous vernix-like desquamation NOT_TRANSLATED -en nl HP:0025724 IAO:0000115 Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth NOT_TRANSLATED -en nl HP:0550004 rdfs:label Verruca plana Verruca plana CANDIDATE -en nl HP:0550004 IAO:0000115 Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals NOT_TRANSLATED -en nl HP:0025725 rdfs:label Type 1 congenital pulmonary airway malformation Type 1 congenital pulmonary airway malformation NOT_TRANSLATED -en nl HP:0025725 IAO:0000115 A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst NOT_TRANSLATED -en nl HP:0550005 rdfs:label Bilateral basilar pulmonary fibrosis Bilateral basilar pulmonary fibrosis NOT_TRANSLATED -en nl HP:0550005 IAO:0000115 It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis NOT_TRANSLATED -en nl HP:0025726 rdfs:label Type 2 congenital pulmonary airway malformation Type 2 congenital pulmonary airway malformation NOT_TRANSLATED -en nl HP:0025726 IAO:0000115 A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance) A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance) NOT_TRANSLATED -en nl HP:0025727 rdfs:label Type 3 congenital pulmonary airway malformation Type 3 congenital pulmonary airway malformation NOT_TRANSLATED -en nl HP:0025727 IAO:0000115 A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance NOT_TRANSLATED -en nl HP:0025728 rdfs:label Periventricular pseudocyst Periventricular pseudocyst NOT_TRANSLATED -en nl HP:0025728 IAO:0000115 Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns NOT_TRANSLATED -en nl HP:0025729 rdfs:label Fetal vascular malperfusion Fetal vascular malperfusion NOT_TRANSLATED -en nl HP:0025729 IAO:0000115 The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.) The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.) NOT_TRANSLATED -en nl HP:0025730 rdfs:label Foramen ovale aneurysm Foramen ovale aneurysm NOT_TRANSLATED -en nl HP:0025730 IAO:0000115 Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow NOT_TRANSLATED -en nl HP:0030000 rdfs:label EMG: repetitive nerve stimulation abnormality EMG: repetitieve zenuw stimulatie afwijking CANDIDATE -en nl HP:0030000 IAO:0000115 Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz NOT_TRANSLATED -en nl HP:0030001 rdfs:label Lagophthalmos Lagopthalmos CANDIDATE -en nl HP:0030001 IAO:0000115 A condition in which the eyelids do not close to cover the eye completely A condition in which the eyelids do not close to cover the eye completely NOT_TRANSLATED -en nl HP:0030002 rdfs:label Nocturnal lagophthalmos Nachtelijke lagophthalmos CANDIDATE -en nl HP:0030002 IAO:0000115 The inability to close the eyelids during sleep The inability to close the eyelids during sleep NOT_TRANSLATED -en nl HP:0030003 rdfs:label Paralytic lagophthalmos Paralytische lagophthalmos CANDIDATE -en nl HP:0030003 IAO:0000115 A type of lagophthalmos that occurs in association with facial nerve palsy A type of lagophthalmos that occurs in association with facial nerve palsy NOT_TRANSLATED -en nl HP:0030004 rdfs:label Cicatricial lagophthalmos Cicatriciële lagophthalmos CANDIDATE -en nl HP:0030004 IAO:0000115 A type of lagophthalmos that occurs following trauma or surgery A type of lagophthalmos that occurs following trauma or surgery NOT_TRANSLATED -en nl HP:0030005 rdfs:label Capillary leak Capillair lek CANDIDATE -en nl HP:0030005 IAO:0000115 An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes NOT_TRANSLATED -en nl HP:0030006 rdfs:label Single fiber EMG abnormality Enkele vezel EMG afwijking CANDIDATE -en nl HP:0030006 IAO:0000115 Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers NOT_TRANSLATED -en nl HP:0030007 rdfs:label EMG: positive sharp waves EMG: positive sharp waves NOT_TRANSLATED -en nl HP:0030007 IAO:0000115 These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform NOT_TRANSLATED -en nl HP:0030008 rdfs:label Cervical agenesis Cervix agenesie CANDIDATE -en nl HP:0030008 IAO:0000115 Congenital absence of the cervix Congenital absence of the cervix NOT_TRANSLATED -en nl HP:0030009 rdfs:label Cervical insufficiency Cervixinsufficiëntie CANDIDATE -en nl HP:0030009 IAO:0000115 A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent NOT_TRANSLATED -en nl HP:0030010 rdfs:label Hydrometrocolpos Hydrometrocolpos CANDIDATE -en nl HP:0030010 IAO:0000115 Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina NOT_TRANSLATED -en nl HP:0030011 rdfs:label Imperforate hymen Hymen imperforatus CANDIDATE -en nl HP:0030011 IAO:0000115 A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina NOT_TRANSLATED -en nl HP:0030012 rdfs:label Abnormal female reproductive system physiology Afwijking van vrouwelijk reproductieve systeem fysiologie CANDIDATE -en nl HP:0030014 rdfs:label Female sexual dysfunction Vrouwelijke seksuele disfunctie CANDIDATE -en nl HP:0030014 IAO:0000115 A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity NOT_TRANSLATED -en nl HP:0030015 rdfs:label Female anorgasmia Vrouwelijke anorgasmie CANDIDATE -en nl HP:0030015 IAO:0000115 The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal NOT_TRANSLATED -en nl HP:0030016 rdfs:label Dyspareunia Dyspareunie CANDIDATE -en nl HP:0030016 IAO:0000115 Recurrent or persistent genital pain associated with sexual intercourse Recurrent or persistent genital pain associated with sexual intercourse NOT_TRANSLATED -en nl HP:0030017 rdfs:label Vaginismus Vaginisme CANDIDATE -en nl HP:0030017 IAO:0000115 Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress NOT_TRANSLATED -en nl HP:0030018 rdfs:label Decreased female libido Verminderd vrouwelijk libido CANDIDATE -en nl HP:0030018 IAO:0000115 Dminished sexual desire in female Dminished sexual desire in female NOT_TRANSLATED -en nl HP:0030019 rdfs:label Increased female libido Verhoogd vrouwelijk libido CANDIDATE -en nl HP:0030019 IAO:0000115 Elevated sexual desire in female Elevated sexual desire in female NOT_TRANSLATED -en nl HP:0030021 rdfs:label Auricular tag Auricular tag NOT_TRANSLATED -en nl HP:0030021 IAO:0000115 Small protrusion within the pinna Small protrusion within the pinna NOT_TRANSLATED -en nl HP:0030022 rdfs:label Question mark ear Question mark ear NOT_TRANSLATED -en nl HP:0030022 IAO:0000115 Cleft between the helix and the lobe Cleft between the helix and the lobe NOT_TRANSLATED -en nl HP:0030023 rdfs:label Quelprud nodule Quelprud nodule NOT_TRANSLATED -en nl HP:0030023 IAO:0000115 Small cartilaginous prominence on the posterior concha Small cartilaginous prominence on the posterior concha NOT_TRANSLATED -en nl HP:0030024 rdfs:label Pretragal ectopia Pretragal ectopia NOT_TRANSLATED -en nl HP:0030024 IAO:0000115 Variably shaped, cartilage-containing tissue anterior to the external auditory meatus Variably shaped, cartilage-containing tissue anterior to the external auditory meatus NOT_TRANSLATED -en nl HP:0030025 rdfs:label Auricular pit Auricular pit NOT_TRANSLATED -en nl HP:0030025 IAO:0000115 Small indentation in the lower part of the ascending helix, concha, or in the crus helix Small indentation in the lower part of the ascending helix, concha, or in the crus helix NOT_TRANSLATED -en nl HP:0030026 rdfs:label Squared superior portion of helix Squared superior portion of helix NOT_TRANSLATED -en nl HP:0030026 IAO:0000115 Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual NOT_TRANSLATED -en nl HP:0030027 rdfs:label Abnormal nasal cartilage morphology Afwijking van het nasale kraakbeen CANDIDATE -en nl HP:0030027 IAO:0000115 A morphological anomaly of the nasal cartilage A morphological anomaly of the nasal cartilage NOT_TRANSLATED -en nl HP:0030028 rdfs:label Absent nasal cartilage Afwezig nasaal kraakbeen CANDIDATE -en nl HP:0030028 IAO:0000115 Lack of a palpable nasal cartilage Lack of a palpable nasal cartilage NOT_TRANSLATED -en nl HP:0030029 rdfs:label Splayed fingers Gespreide vingers CANDIDATE -en nl HP:0030029 IAO:0000115 Divergence of digits along the A/P axis (in the plane of the palm) Divergence of digits along the A/P axis (in the plane of the palm) NOT_TRANSLATED -en nl HP:0030030 rdfs:label Absent ray Afwezige straal CANDIDATE -en nl HP:0030030 IAO:0000115 The absence of all phalanges of a digit and the associated metacarpal /metatarsal The absence of all phalanges of a digit and the associated metacarpal /metatarsal NOT_TRANSLATED -en nl HP:0030031 rdfs:label Small toe Kleine teen CANDIDATE -en nl HP:0030031 IAO:0000115 Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual NOT_TRANSLATED -en nl HP:0030032 rdfs:label Partial absence of foot Partiële afwezigheid van voet CANDIDATE -en nl HP:0030032 IAO:0000115 An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals NOT_TRANSLATED -en nl HP:0030033 rdfs:label Small finger Kleine vinger CANDIDATE -en nl HP:0030033 IAO:0000115 Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual NOT_TRANSLATED -en nl HP:0030034 rdfs:label Glomerular basement membrane lamellation Diffuse glomerulaire basaalmembraan lamellatie CANDIDATE -en nl HP:0030034 IAO:0000115 Presence of abnormal additional layers of the basement membrane of the glomerulus Presence of abnormal additional layers of the basement membrane of the glomerulus NOT_TRANSLATED -en nl HP:0030035 rdfs:label Struvite nephrolithiasis Struviet nefrolithiase CANDIDATE -en nl HP:0030035 IAO:0000115 Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones) Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones) NOT_TRANSLATED -en nl HP:0030036 rdfs:label Isothenuria Isosthenurie CANDIDATE -en nl HP:0030036 IAO:0000115 Inability of the kidneys to produce either concentrated or dilute urine Inability of the kidneys to produce either concentrated or dilute urine NOT_TRANSLATED -en nl HP:0030037 rdfs:label Bifid ureter Bifide ureter CANDIDATE -en nl HP:0030037 IAO:0000115 Incomplete duplication of the ureter Incomplete duplication of the ureter NOT_TRANSLATED -en nl HP:0030038 rdfs:label Enchondroma Enchondroom CANDIDATE -en nl HP:0030038 IAO:0000115 A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus NOT_TRANSLATED -en nl HP:0030039 rdfs:label Fused thoracic vertebrae Gefuseerde thoracale wervels CANDIDATE -en nl HP:0030039 IAO:0000115 A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another NOT_TRANSLATED -en nl HP:0030040 rdfs:label Fused lumbar vertebrae Gefuseerde lumbale wervels CANDIDATE -en nl HP:0030040 IAO:0000115 A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another NOT_TRANSLATED -en nl HP:0030041 rdfs:label Schmorl's node Nodulus van Schmorl CANDIDATE -en nl HP:0030041 IAO:0000115 A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra NOT_TRANSLATED -en nl HP:0030042 rdfs:label Incomplete ossification of pubis Incomplete ossificatie van os pubis CANDIDATE -en nl HP:0030042 IAO:0000115 Failure to complete ossification (maturation and calcification) of the pubic bone Failure to complete ossification (maturation and calcification) of the pubic bone NOT_TRANSLATED -en nl HP:0030043 rdfs:label Hip subluxation Subluxatie van de heup CANDIDATE -en nl HP:0030043 IAO:0000115 A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket NOT_TRANSLATED -en nl HP:0030044 rdfs:label Flexion contracture of digit Flexiecontractuur van de vinger/teen CANDIDATE -en nl HP:0030044 IAO:0000115 A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints NOT_TRANSLATED -en nl HP:0030045 rdfs:label Serpentine fibula Kronkelende fibula CANDIDATE -en nl HP:0030045 IAO:0000115 Elongated curved (S-shaped) fibulae Elongated curved (S-shaped) fibulae NOT_TRANSLATED -en nl HP:0030046 rdfs:label Hypoglycosylation of alpha-dystroglycan Hypogycosylatie van alfa-dystroglycaan CANDIDATE -en nl HP:0030046 IAO:0000115 A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue NOT_TRANSLATED -en nl HP:0030047 rdfs:label Abnormal lateral ventricle morphology Afwijking van laterale ventrikel CANDIDATE -en nl HP:0030047 IAO:0000115 A morphological anomaly of the lateral ventricle A morphological anomaly of the lateral ventricle NOT_TRANSLATED -en nl HP:0030048 rdfs:label Colpocephaly Colpocefalie CANDIDATE -en nl HP:0030048 IAO:0000115 Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles NOT_TRANSLATED -en nl HP:0030049 rdfs:label Brain abscess Abces van de hersenen CANDIDATE -en nl HP:0030049 IAO:0000115 A collection of pus, immune cells, and other material in the brain A collection of pus, immune cells, and other material in the brain NOT_TRANSLATED -en nl HP:0030050 rdfs:label Narcolepsy Narcolepsie CANDIDATE -en nl HP:0030050 IAO:0000115 An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis NOT_TRANSLATED -en nl HP:0030051 rdfs:label Tip-toe gait Tenengang CANDIDATE -en nl HP:0030051 IAO:0000115 An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait NOT_TRANSLATED -en nl HP:0030052 rdfs:label Inguinal freckling Sproeten in lies CANDIDATE -en nl HP:0030052 IAO:0000115 The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin NOT_TRANSLATED -en nl HP:0030053 rdfs:label Stiff skin Stijve huid CANDIDATE -en nl HP:0030053 IAO:0000115 An induration (hardening) of the skin An induration (hardening) of the skin NOT_TRANSLATED -en nl HP:0030054 rdfs:label Perifollicular fibrosis Perifolliculaire fibrose CANDIDATE -en nl HP:0030054 IAO:0000115 Presence of excess fibrous connective tissue surrounding hair follicules Presence of excess fibrous connective tissue surrounding hair follicules NOT_TRANSLATED -en nl HP:0030055 rdfs:label Hyperconvex toenail Hyperconvexe teennagel CANDIDATE -en nl HP:0030055 IAO:0000115 When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity NOT_TRANSLATED -en nl HP:0030056 rdfs:label Uncombable hair Onkambaar haar CANDIDATE -en nl HP:0030056 IAO:0000115 Hair that is disorderly, stands out from the scalp, and cannot be combed flat Hair that is disorderly, stands out from the scalp, and cannot be combed flat NOT_TRANSLATED -en nl HP:0030057 rdfs:label Autoimmune antibody positivity Auto-immune antistoffen positiviteit CANDIDATE -en nl HP:0030057 IAO:0000115 The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues NOT_TRANSLATED -en nl HP:0030058 rdfs:label Sickled erythrocytes Sickled erythrocytes NOT_TRANSLATED -en nl HP:0030058 IAO:0000115 An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains) An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains) NOT_TRANSLATED -en nl HP:0030059 rdfs:label Mitochondrial depletion Mitochondriale uitputting CANDIDATE -en nl HP:0030059 IAO:0000115 An abnormal reduction in mitochondrial DNA content of cells An abnormal reduction in mitochondrial DNA content of cells NOT_TRANSLATED -en nl HP:0030060 rdfs:label Nervous tissue neoplasm Zenuwweefsel neoplasma CANDIDATE -en nl HP:0030060 IAO:0000115 A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system) A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system) NOT_TRANSLATED -en nl HP:0030061 rdfs:label Neuroectodermal neoplasm Neuroectodermaal neoplasma CANDIDATE -en nl HP:0030061 IAO:0000115 A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells NOT_TRANSLATED -en nl HP:0030062 rdfs:label Craniopharyngioma Craniofaryngioom CANDIDATE -en nl HP:0030062 IAO:0000115 A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system NOT_TRANSLATED -en nl HP:0030063 rdfs:label Neuroepithelial neoplasm Neuroepitheliaal neoplasma CANDIDATE -en nl HP:0030063 IAO:0000115 A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium NOT_TRANSLATED -en nl HP:0030064 rdfs:label Neurocytoma Neurocytoom CANDIDATE -en nl HP:0030064 IAO:0000115 A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles NOT_TRANSLATED -en nl HP:0030065 rdfs:label Primitive neuroectodermal tumor Primitieve neuroectodermale tumor CANDIDATE -en nl HP:0030065 IAO:0000115 A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation NOT_TRANSLATED -en nl HP:0030066 rdfs:label Ependymoblastoma Ependymoblastoom CANDIDATE -en nl HP:0030066 IAO:0000115 A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system NOT_TRANSLATED -en nl HP:0030067 rdfs:label Peripheral primitive neuroectodermal neoplasm Perifeer primitief neuroectodermaal neoplasma CANDIDATE -en nl HP:0030067 IAO:0000115 A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone NOT_TRANSLATED -en nl HP:0030068 rdfs:label Olfactory esthesioneuroblastoma Olfactorisch esthesioneuroblastoom CANDIDATE -en nl HP:0030068 IAO:0000115 A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate NOT_TRANSLATED -en nl HP:0030069 rdfs:label Primary central nervous system lymphoma Primair centraal zenuwstelsel lymfoom CANDIDATE -en nl HP:0030069 IAO:0000115 A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS NOT_TRANSLATED -en nl HP:0030070 rdfs:label Central primitive neuroectodermal tumor Centrale primitieve neuroectodermale tumor CANDIDATE -en nl HP:0030070 IAO:0000115 A primitive neuroectodermal neoplasm that occurs in the central nervous system A primitive neuroectodermal neoplasm that occurs in the central nervous system NOT_TRANSLATED -en nl HP:0030071 rdfs:label Medulloepithelioma Medulloepithelioom CANDIDATE -en nl HP:0030071 IAO:0000115 A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal NOT_TRANSLATED -en nl HP:0030072 rdfs:label Paranasal sinus neoplasm Paranasale sinus neoplasma CANDIDATE -en nl HP:0030072 IAO:0000115 A tumor that originates in the paranasal sinus A tumor that originates in the paranasal sinus NOT_TRANSLATED -en nl HP:0030074 rdfs:label Chemodectoma Chemodectoom CANDIDATE -en nl HP:0030074 IAO:0000115 A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract NOT_TRANSLATED -en nl HP:0030075 rdfs:label Ductal carcinoma in situ Ductaal carcinoma in situ CANDIDATE -en nl HP:0030075 IAO:0000115 Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer NOT_TRANSLATED -en nl HP:0030076 rdfs:label Lobular carcinoma in situ Lobulair carcinoma in situ CANDIDATE -en nl HP:0030077 rdfs:label Bronchial neoplasm Bronchiaal neoplasma CANDIDATE -en nl HP:0030077 IAO:0000115 A tumor originating in a bronchus A tumor originating in a bronchus NOT_TRANSLATED -en nl HP:0030078 rdfs:label Lung adenocarcinoma Adenocarcinoom van de long CANDIDATE -en nl HP:0030079 rdfs:label Cervix cancer Baarmoederhalskanker CANDIDATE -en nl HP:0030079 IAO:0000115 A tumor of the uterine cervix A tumor of the uterine cervix NOT_TRANSLATED -en nl HP:0030080 rdfs:label Burkitt lymphoma Burkitt lymfoom CANDIDATE -en nl HP:0030080 IAO:0000115 A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass NOT_TRANSLATED -en nl HP:0030081 rdfs:label Punctate periventricular T2 hyperintense foci Gestippelde periventriculaire T2 hyperintense foci CANDIDATE -en nl HP:0030081 IAO:0000115 Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter NOT_TRANSLATED -en nl HP:0030082 rdfs:label Abnormal drinking behavior Afwijkend drinkgedrag CANDIDATE -en nl HP:0030082 IAO:0000115 Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption NOT_TRANSLATED -en nl HP:0030083 rdfs:label Salt craving Zout craving CANDIDATE -en nl HP:0030083 IAO:0000115 An excessive desire to eat salt (sodium chloride) or salty foods An excessive desire to eat salt (sodium chloride) or salty foods NOT_TRANSLATED -en nl HP:0030084 rdfs:label Clinodactyly Clinodactylie CANDIDATE -en nl HP:0030084 IAO:0000115 An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe) An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe) NOT_TRANSLATED -en nl HP:0030085 rdfs:label Abnormal CSF lactate concentration Afwijkend liquor lactaat niveau CANDIDATE -en nl HP:0030085 IAO:0000115 Abnormal concentration of lactate in the cerebrospinal fluid Abnormal concentration of lactate in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0030086 rdfs:label Reduced CSF lactate Verlaagd liquor actaat CANDIDATE -en nl HP:0030086 IAO:0000115 Decreased concentration of lactate in the cerebrospinal fluid Decreased concentration of lactate in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0030087 rdfs:label Abnormal circulating testosterone concentration Afwijkend serum testosteron niveau CANDIDATE -en nl HP:0030087 IAO:0000115 An anomalous concentration of testosterone in the blood An anomalous concentration of testosterone in the blood NOT_TRANSLATED -en nl HP:0030088 rdfs:label Increased serum testosterone level Verhoogd serum testosteron niveau CANDIDATE -en nl HP:0030088 IAO:0000115 An elevated circulating testosterone level in the blood An elevated circulating testosterone level in the blood NOT_TRANSLATED -en nl HP:0030089 rdfs:label Abnormal muscle fiber protein expression Afwijkende spiervezel eiwit expressie CANDIDATE -en nl HP:0030089 IAO:0000115 An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue NOT_TRANSLATED -en nl HP:0030090 rdfs:label Abnormal muscle fiber merosin expression Afwijkende spiervezel merosine expressie CANDIDATE -en nl HP:0030090 IAO:0000115 An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve NOT_TRANSLATED -en nl HP:0030091 rdfs:label Absent muscle fiber merosin Afwezige spiervezel merosine CANDIDATE -en nl HP:0030091 IAO:0000115 Lack of merosin protein in the muscle biopsy Lack of merosin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030092 rdfs:label Reduced muscle fiber merosin Verminderde spiervezel merosine CANDIDATE -en nl HP:0030092 IAO:0000115 A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue NOT_TRANSLATED -en nl HP:0030093 rdfs:label Abnormal muscle fiber laminin beta 1 Afwijkend spiervezel laminine beta 1 CANDIDATE -en nl HP:0030093 IAO:0000115 A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 NOT_TRANSLATED -en nl HP:0030094 rdfs:label Reduced muscle fiber laminin beta 1 Verminderd spiervezel laminine beta 1 CANDIDATE -en nl HP:0030094 IAO:0000115 A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 NOT_TRANSLATED -en nl HP:0030095 rdfs:label Reduced muscle collagen VI Verminderd spier collageen VI CANDIDATE -en nl HP:0030095 IAO:0000115 A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle NOT_TRANSLATED -en nl HP:0030096 rdfs:label Abnormal muscle fiber dystrophin expression Afwijkende spiervezel dystrofine expressie CANDIDATE -en nl HP:0030096 IAO:0000115 A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina NOT_TRANSLATED -en nl HP:0030097 rdfs:label Absent muscle dystrophin expression Afwezige spier dystrofine expressie CANDIDATE -en nl HP:0030097 IAO:0000115 Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030098 rdfs:label Reduced muscle dystrophin expression Verminderde spier dystrofine expressie CANDIDATE -en nl HP:0030098 IAO:0000115 A decreased amount of dystrophin in muscle fiber tissue A decreased amount of dystrophin in muscle fiber tissue NOT_TRANSLATED -en nl HP:0030099 rdfs:label Reduced muscle fiber alpha dystroglycan Verminderde spiervezel alfa-dystroglycaan CANDIDATE -en nl HP:0030099 IAO:0000115 Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly NOT_TRANSLATED -en nl HP:0030100 rdfs:label Abnormal muscle fiber alpha sarcoglycan Afwijkend spiervezel alfa-sarcoglycaan CANDIDATE -en nl HP:0030100 IAO:0000115 Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED -en nl HP:0030101 rdfs:label Absent muscle fiber alpha sarcoglycan Afwezig spiervezel alfa-sarcoglycaan CANDIDATE -en nl HP:0030101 IAO:0000115 Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030102 rdfs:label Reduced muscle fiber alpha sarcoglycan Verminderd spiervezel alfa-sarcoglycaan CANDIDATE -en nl HP:0030102 IAO:0000115 A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030103 rdfs:label Abnormal muscle fiber beta sarcoglycan Afwijkend spiervezel beta-sarcoglycaan CANDIDATE -en nl HP:0030103 IAO:0000115 Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED -en nl HP:0030104 rdfs:label Abnormal muscle fiber gamma sarcoglycan Afwijkend spiervezel gamma-sarcoglycaan CANDIDATE -en nl HP:0030104 IAO:0000115 Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED -en nl HP:0030105 rdfs:label Abnormal muscle fiber delta sarcoglycan Afwijkend spiervezel delta-sarcoglycaan CANDIDATE -en nl HP:0030105 IAO:0000115 Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED -en nl HP:0030106 rdfs:label Absent muscle fiber beta sarcoglycan Afwezig spiervezel beta-sarcoglycaan CANDIDATE -en nl HP:0030106 IAO:0000115 Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030107 rdfs:label Reduced muscle fiber beta sarcoglycan Verminderd spiervezel beta-sarcoglycaan CANDIDATE -en nl HP:0030107 IAO:0000115 Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030108 rdfs:label Reduced muscle fiber gamma sarcoglycan Verminderd spiervezel gamma-sarcoglycaan CANDIDATE -en nl HP:0030108 IAO:0000115 Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030109 rdfs:label Absent muscle fiber gamma sarcoglycan Afwezig spiervezel gamma-sarcoglycaan CANDIDATE -en nl HP:0030109 IAO:0000115 Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030110 rdfs:label Absent muscle fiber delta sarcoglycan Afwezig spiervezel delta-sarcoglycaan CANDIDATE -en nl HP:0030110 IAO:0000115 Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030111 rdfs:label Reduced muscle fiber delta sarcoglycan Verminderd spiervezel delta-sarcoglycaan CANDIDATE -en nl HP:0030111 IAO:0000115 Abnormally reduced amount of delta sarcoglycan in muscle Abnormally reduced amount of delta sarcoglycan in muscle NOT_TRANSLATED -en nl HP:0030112 rdfs:label Abnormal muscle fiber alpha dystroglycan Afwijkend spiervezel alfa-dystroglycaan CANDIDATE -en nl HP:0030112 IAO:0000115 A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly NOT_TRANSLATED -en nl HP:0030113 rdfs:label Abnormal muscle fiber dysferlin Afwijkend spiervezel dysferline CANDIDATE -en nl HP:0030113 IAO:0000115 A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing NOT_TRANSLATED -en nl HP:0030114 rdfs:label Absent muscle fiber dysferlin Afwezig spiervezel dysferline CANDIDATE -en nl HP:0030114 IAO:0000115 Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030115 rdfs:label Reduced muscle fiber dysferlin Verminderd spiervezel dysferline CANDIDATE -en nl HP:0030115 IAO:0000115 Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030116 rdfs:label Abnormal muscle fiber emerin Afwijkend spiervezel emerine CANDIDATE -en nl HP:0030116 IAO:0000115 A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue NOT_TRANSLATED -en nl HP:0030117 rdfs:label Absent muscle fiber emerin Afwezige spiervezel emerine CANDIDATE -en nl HP:0030117 IAO:0000115 Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030118 rdfs:label Reduced muscle fiber emerin Verminderd spiervezel emerine CANDIDATE -en nl HP:0030118 IAO:0000115 Immunohistochemistry reveals reduced emerin protein in the muscle biopsy Immunohistochemistry reveals reduced emerin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030119 rdfs:label Abnormal muscle fiber calpain-3 Afwijkende spiervezel calpaïne-3 CANDIDATE -en nl HP:0030119 IAO:0000115 A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates NOT_TRANSLATED -en nl HP:0030120 rdfs:label Absent muscle fiber calpain-3 Afwezig spiervezel calpaïne-3 CANDIDATE -en nl HP:0030120 IAO:0000115 Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue NOT_TRANSLATED -en nl HP:0030121 rdfs:label Reduced muscle fiber calpain-3 Gereduceerd spiervezel calpaïne-3 CANDIDATE -en nl HP:0030121 IAO:0000115 Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue NOT_TRANSLATED -en nl HP:0030122 rdfs:label Reduced muscle fiber perlecan Verminderd spiervezel perlecan CANDIDATE -en nl HP:0030122 IAO:0000115 Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2) Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2) NOT_TRANSLATED -en nl HP:0030123 rdfs:label Abnormal muscle fiber lamin A/C Afwijkend spiervezel lamine A/C CANDIDATE -en nl HP:0030123 IAO:0000115 A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation NOT_TRANSLATED -en nl HP:0030124 rdfs:label Reduced muscle fiber lamin A/C Gereduceerd spiervezel laminine beta CANDIDATE -en nl HP:0030124 IAO:0000115 A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue NOT_TRANSLATED -en nl HP:0030125 rdfs:label Sacralization of the fifth lumbar vertebra Sacralisatie van vijfde lumbale wervel CANDIDATE -en nl HP:0030125 IAO:0000115 A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both NOT_TRANSLATED -en nl HP:0030126 rdfs:label Abnormal endometrium morphology Afwijking van het endometrium CANDIDATE -en nl HP:0030126 IAO:0000115 An anomaly of the inner mucous membrane of the uterus An anomaly of the inner mucous membrane of the uterus NOT_TRANSLATED -en nl HP:0030127 rdfs:label Endometriosis Endometriose CANDIDATE -en nl HP:0030127 IAO:0000115 The growth of endometrial tissue outside the uterus The growth of endometrial tissue outside the uterus NOT_TRANSLATED -en nl HP:0030129 rdfs:label Impaired ristocetin cofactor assay activity Gestoorde ristocetine cofactor assay activiteit CANDIDATE -en nl HP:0030129 IAO:0000115 Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma NOT_TRANSLATED -en nl HP:0030130 rdfs:label Impaired von Willebrand factor collagen binding activity Verminderde von Willibrand-factor collageen bindende activiteit CANDIDATE -en nl HP:0030130 IAO:0000115 Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers NOT_TRANSLATED -en nl HP:0030131 rdfs:label Abnormal von Willebrand factor multimer distribution Afwijkende von Willebrand factor multimeer verdeling CANDIDATE -en nl HP:0030131 IAO:0000115 Deviation from the normal von Willebrand factor multimer pattern Deviation from the normal von Willebrand factor multimer pattern NOT_TRANSLATED -en nl HP:0030132 rdfs:label Absence of large von Willebrand factor multimers Afwezigheid van grote von-Willebrand-factor multimeren CANDIDATE -en nl HP:0030132 IAO:0000115 Absence of large von Willebrand Factor multimers on gel electrophoresis Absence of large von Willebrand Factor multimers on gel electrophoresis NOT_TRANSLATED -en nl HP:0030133 rdfs:label Abnormal presence of ultra-large von Willebrand factor multimers Abnormale aanwezigheid van ultra-grote von Willebrand factor multimeren CANDIDATE -en nl HP:0030133 IAO:0000115 Detection of abnormal ultra-large von Willebrand factor multimers Detection of abnormal ultra-large von Willebrand factor multimers NOT_TRANSLATED -en nl HP:0030134 rdfs:label Total absence von Willebrand factor multimers Totale afwezigheid von Willebrand factor multimeren CANDIDATE -en nl HP:0030134 IAO:0000115 Complete absence of all von Willebrand factor multimers Complete absence of all von Willebrand factor multimers NOT_TRANSLATED -en nl HP:0030135 rdfs:label Absence of intermediate von Willebrand factor multimers Ontbreken van intermediaire von-Willibrand-factor multimeren CANDIDATE -en nl HP:0030135 IAO:0000115 Lack of intermediate von Willebrand Factor multimers on gel electrophoresis Lack of intermediate von Willebrand Factor multimers on gel electrophoresis NOT_TRANSLATED -en nl HP:0030136 rdfs:label Enhanced ristocetin cofactor assay activity Verbeterde ristocetine-cofactor assay activiteit CANDIDATE -en nl HP:0030136 IAO:0000115 Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma NOT_TRANSLATED -en nl HP:0030137 rdfs:label Prolonged bleeding following circumcision Langdurig bloeden na besnijdenis CANDIDATE -en nl HP:0030137 IAO:0000115 Bleeding that persists for a longer than usual time following circumcision Bleeding that persists for a longer than usual time following circumcision NOT_TRANSLATED -en nl HP:0030138 rdfs:label Excessive bleeding from superficial cuts Overmatig bloeden van oppervlakkige snijwonden CANDIDATE -en nl HP:0030138 IAO:0000115 An abnormally increased degree of bleeding following a superfical injury to the surface of the skin An abnormally increased degree of bleeding following a superfical injury to the surface of the skin NOT_TRANSLATED -en nl HP:0030139 rdfs:label Excessive bleeding after a venipuncture Overmatig bloeden na een venapunctie CANDIDATE -en nl HP:0030139 IAO:0000115 An abnormal high amount of bleeding following the procedure of taking a blood sample An abnormal high amount of bleeding following the procedure of taking a blood sample NOT_TRANSLATED -en nl HP:0030140 rdfs:label Oral cavity bleeding Mondholte bloeding CANDIDATE -en nl HP:0030140 IAO:0000115 Recurrent or excessive bleeding from the mouth Recurrent or excessive bleeding from the mouth NOT_TRANSLATED -en nl HP:0030141 rdfs:label Abnormality of the posterior hairline Afwijking van de posterieure haarlijn CANDIDATE -en nl HP:0030141 IAO:0000115 An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair NOT_TRANSLATED -en nl HP:0030142 rdfs:label Abnormal bowel sounds Afwijkende darm geluiden CANDIDATE -en nl HP:0030142 IAO:0000115 An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis NOT_TRANSLATED -en nl HP:0030143 rdfs:label Hyperactive bowel sounds Hyperactieve darm geluiden CANDIDATE -en nl HP:0030143 IAO:0000115 Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines NOT_TRANSLATED -en nl HP:0030144 rdfs:label Hypoactive bowel sounds Hypoactive darm geluiden CANDIDATE -en nl HP:0030144 IAO:0000115 An decreased amount of bowel sounds An decreased amount of bowel sounds NOT_TRANSLATED -en nl HP:0030145 rdfs:label Lack of bowel sounds Gebrek aan darm geluiden CANDIDATE -en nl HP:0030145 IAO:0000115 Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope NOT_TRANSLATED -en nl HP:0030146 rdfs:label Abnormal liver parenchyma morphology Afwijkende lever parenchym morfologie CANDIDATE -en nl HP:0030146 IAO:0000115 A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells NOT_TRANSLATED -en nl HP:0030147 rdfs:label Truncal titubation Truncale titubatie CANDIDATE -en nl HP:0030147 IAO:0000115 Tremor of the trunk in an anterior-posterior plane at 3-4 Hz Tremor of the trunk in an anterior-posterior plane at 3-4 Hz NOT_TRANSLATED -en nl HP:0030148 rdfs:label Heart murmur Hartruis CANDIDATE -en nl HP:0030148 IAO:0000115 An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart NOT_TRANSLATED -en nl HP:0030149 rdfs:label Cardiogenic shock Cardiogene schok CANDIDATE -en nl HP:0030149 IAO:0000115 Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume NOT_TRANSLATED -en nl HP:0030150 rdfs:label Plasmacytosis Plasmacytose CANDIDATE -en nl HP:0030150 IAO:0000115 An abnormally increased number of plasma cells in tissues, exudates, or blood An abnormally increased number of plasma cells in tissues, exudates, or blood NOT_TRANSLATED -en nl HP:0030151 rdfs:label Cholangitis Cholangitis CANDIDATE -en nl HP:0030151 IAO:0000115 Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both NOT_TRANSLATED -en nl HP:0030153 rdfs:label Cholangiocarcinoma Cholangiocarcinoom CANDIDATE -en nl HP:0030153 IAO:0000115 Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension NOT_TRANSLATED -en nl HP:0030154 rdfs:label Gallbladder perforation Galblaas perforatie CANDIDATE -en nl HP:0030154 IAO:0000115 Rupture of the wall of the gallbladder Rupture of the wall of the gallbladder NOT_TRANSLATED -en nl HP:0030155 rdfs:label Scrotal pain Scrotale pijn CANDIDATE -en nl HP:0030155 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum NOT_TRANSLATED -en nl HP:0030156 rdfs:label Bence Jones Proteinuria Bence Jones Proteïnurie CANDIDATE -en nl HP:0030156 IAO:0000115 The presence of free monoclonal immunoglobulin light chains in the urine The presence of free monoclonal immunoglobulin light chains in the urine NOT_TRANSLATED -en nl HP:0030157 rdfs:label Flank pain Flank pijn CANDIDATE -en nl HP:0030157 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank NOT_TRANSLATED -en nl HP:0030158 rdfs:label Cervical ectropion Cervicaal ectropion CANDIDATE -en nl HP:0030158 IAO:0000115 Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu NOT_TRANSLATED -en nl HP:0030159 rdfs:label Cervical polyp Cervicale poliep CANDIDATE -en nl HP:0030159 IAO:0000115 Abnormal growth of tissue projecting from a mucous membrane of the endocervix Abnormal growth of tissue projecting from a mucous membrane of the endocervix NOT_TRANSLATED -en nl HP:0030160 rdfs:label Cervicitis Cervicitis CANDIDATE -en nl HP:0030160 IAO:0000115 Inflammation of the uterine cervix Inflammation of the uterine cervix NOT_TRANSLATED -en nl HP:0030161 rdfs:label Vaginal pruritus Vaginale pruritis CANDIDATE -en nl HP:0030161 IAO:0000115 A sensation of itching in the vagina A sensation of itching in the vagina NOT_TRANSLATED -en nl HP:0030162 rdfs:label Glomerulomegaly Glomerulomegalie CANDIDATE -en nl HP:0030162 IAO:0000115 Abnormally large size of glomeruli Abnormally large size of glomeruli NOT_TRANSLATED -en nl HP:0030163 rdfs:label Abnormal vascular physiology Afwijkende vasculaire fysiologie CANDIDATE -en nl HP:0030163 IAO:0000115 Abnormality of vascular function Abnormality of vascular function NOT_TRANSLATED -en nl HP:0030164 rdfs:label Jaw claudication Kaak claudicatio CANDIDATE -en nl HP:0030164 IAO:0000115 Pain in the jaw or ear induced by chewing or otherwise moving the jaw Pain in the jaw or ear induced by chewing or otherwise moving the jaw NOT_TRANSLATED -en nl HP:0030165 rdfs:label Temporal artery tortuosity Temporale arterie kronkeligheid CANDIDATE -en nl HP:0030165 IAO:0000115 The presence of an increased number of twists and turns of the temporal artery The presence of an increased number of twists and turns of the temporal artery NOT_TRANSLATED -en nl HP:0030166 rdfs:label Night sweats Nachtzweten CANDIDATE -en nl HP:0030166 IAO:0000115 Occurrence of excessive sweating during sleep Occurrence of excessive sweating during sleep NOT_TRANSLATED -en nl HP:0030167 rdfs:label Antimitochondrial antibody positivity Antimitochondriale antistoffen positiviteit CANDIDATE -en nl HP:0030167 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria NOT_TRANSLATED -en nl HP:0030168 rdfs:label Dilated superficial abdominal veins Verwijde oppervlakkige antibioticum aderen CANDIDATE -en nl HP:0030168 IAO:0000115 Increase in diameter of the veins located underneath the skin of the abdomen Increase in diameter of the veins located underneath the skin of the abdomen NOT_TRANSLATED -en nl HP:0030169 rdfs:label Gastric varix Gastrische varix CANDIDATE -en nl HP:0030169 IAO:0000115 Extreme dilation of the submucusoal veins in the stomach Extreme dilation of the submucusoal veins in the stomach NOT_TRANSLATED -en nl HP:0030170 rdfs:label Cystic artery pseudoaneurysm Arteria cystica pseudoaneurysma CANDIDATE -en nl HP:0030170 IAO:0000115 Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue NOT_TRANSLATED -en nl HP:0030171 rdfs:label Perirenal hematoma Perirenaal hematoom CANDIDATE -en nl HP:0030171 IAO:0000115 A collection of clotted blood surrounding the kidney A collection of clotted blood surrounding the kidney NOT_TRANSLATED -en nl HP:0030172 rdfs:label Peripheral amyelination Perifere amyelinisatie CANDIDATE -en nl HP:0030172 IAO:0000115 Congenital absence of the myelin sheath on a nerve Congenital absence of the myelin sheath on a nerve NOT_TRANSLATED -en nl HP:0030173 rdfs:label Peripheral hypermyelination Perifere hypermyelinisatie CANDIDATE -en nl HP:0030173 IAO:0000115 Increased amount of peripheral myelination Increased amount of peripheral myelination NOT_TRANSLATED -en nl HP:0030174 rdfs:label Increased peripheral myelin thickness Verhoogde perifere myeline dikte CANDIDATE -en nl HP:0030174 IAO:0000115 Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion NOT_TRANSLATED -en nl HP:0030175 rdfs:label Myelin tomacula Myeline tomacula CANDIDATE -en nl HP:0030175 IAO:0000115 The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage) The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage) NOT_TRANSLATED -en nl HP:0030176 rdfs:label Asymmetric peripheral demyelination Asymmetrische perifere demyelinisatie CANDIDATE -en nl HP:0030176 IAO:0000115 Loss of myelin from peripheral nerves in a pattern that differs between right and left Loss of myelin from peripheral nerves in a pattern that differs between right and left NOT_TRANSLATED -en nl HP:0030177 rdfs:label Abnormality of peripheral nervous system electrophysiology Afwijking van perifere zenuwstelsel electrofysiologie CANDIDATE -en nl HP:0030177 IAO:0000115 An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles NOT_TRANSLATED -en nl HP:0030178 rdfs:label Abnormality of central nervous system electrophysiology Afwijking van centrale zenuwstelsel electrofysiologie CANDIDATE -en nl HP:0030179 rdfs:label Abnormal peripheral action potential amplitude Afwijkende amplitude van perifeer actiepotentiaal CANDIDATE -en nl HP:0030179 IAO:0000115 An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve NOT_TRANSLATED -en nl HP:0030180 rdfs:label Oppenheim reflex Reflex van Oppenheim CANDIDATE -en nl HP:0030180 IAO:0000115 Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe) Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe) NOT_TRANSLATED -en nl HP:0030181 rdfs:label Gordon reflex Reflex van Gordon CANDIDATE -en nl HP:0030181 IAO:0000115 Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe) Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe) NOT_TRANSLATED -en nl HP:0030182 rdfs:label Tetraplegia/tetraparesis Tetraplegie/tetraparese CANDIDATE -en nl HP:0030182 IAO:0000115 Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength NOT_TRANSLATED -en nl HP:0030183 rdfs:label Impaired visually enhanced vestibulo-ocular reflex Verminderde visueel verbeterde vestibulo-oculaire reflex CANDIDATE -en nl HP:0030183 IAO:0000115 The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR) The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR) NOT_TRANSLATED -en nl HP:0030185 rdfs:label Isometric tremor Isometrische tremor CANDIDATE -en nl HP:0030185 IAO:0000115 An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist) An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist) NOT_TRANSLATED -en nl HP:0030186 rdfs:label Kinetic tremor Kinetische tremor CANDIDATE -en nl HP:0030186 IAO:0000115 Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor NOT_TRANSLATED -en nl HP:0030187 rdfs:label Titubation Titubatie CANDIDATE -en nl HP:0030187 IAO:0000115 Nodding movement of the head or body Nodding movement of the head or body NOT_TRANSLATED -en nl HP:0030188 rdfs:label Tremor by anatomical site Tremor by anatomical site NOT_TRANSLATED -en nl HP:0030188 IAO:0000115 Tremor classified by the affected body part Tremor classified by the affected body part NOT_TRANSLATED -en nl HP:0030190 rdfs:label Oral motor hypotonia Orale motorische hypotonie CANDIDATE -en nl HP:0030190 IAO:0000115 Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior NOT_TRANSLATED -en nl HP:0030191 rdfs:label Abnormal peripheral nervous system synaptic transmission Afwijkende perifere zenuwstelsel synaptische transmissie CANDIDATE -en nl HP:0030191 IAO:0000115 An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system NOT_TRANSLATED -en nl HP:0030192 rdfs:label Fatigable weakness of bulbar muscles Fatigable weakness of bulbar muscles NOT_TRANSLATED -en nl HP:0030192 IAO:0000115 A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030193 rdfs:label Fatigable weakness of chewing muscles Fatigable weakness of chewing muscles NOT_TRANSLATED -en nl HP:0030193 IAO:0000115 A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030194 rdfs:label Fatigable weakness of speech muscles Fatigable weakness of speech muscles NOT_TRANSLATED -en nl HP:0030194 IAO:0000115 A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030195 rdfs:label Fatigable weakness of swallowing muscles Fatigable weakness of swallowing muscles NOT_TRANSLATED -en nl HP:0030195 IAO:0000115 A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030196 rdfs:label Fatigable weakness of respiratory muscles Fatigable weakness of respiratory muscles NOT_TRANSLATED -en nl HP:0030196 IAO:0000115 A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030197 rdfs:label Fatigable weakness of skeletal muscles Fatigable weakness of skeletal muscles NOT_TRANSLATED -en nl HP:0030197 IAO:0000115 A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030198 rdfs:label Fatigable weakness of distal limb muscles Fatigable weakness of distal limb muscles NOT_TRANSLATED -en nl HP:0030198 IAO:0000115 A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030199 rdfs:label Fatigable weakness of neck muscles Fatigable weakness of neck muscles NOT_TRANSLATED -en nl HP:0030199 IAO:0000115 A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030200 rdfs:label Fatiguable weakness of proximal limb muscles Fatiguable weakness of proximal limb muscles NOT_TRANSLATED -en nl HP:0030200 IAO:0000115 A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED -en nl HP:0030201 rdfs:label Response to drugs acting on neuromuscular transmission Reactie op geneesmiddelen die aangrijpen op neuromusculaire transmissie CANDIDATE -en nl HP:0030201 IAO:0000115 Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis NOT_TRANSLATED -en nl HP:0030202 rdfs:label Favorable response of weakness to acetylcholine esterase inhibitors Gunstige respons van zwakte op acetylcholinesteraseremmers CANDIDATE -en nl HP:0030202 IAO:0000115 Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor NOT_TRANSLATED -en nl HP:0030203 rdfs:label Unfavorable response of muscle weakness to acetylcholine esterase inhibitors Ongunstige respons van spierzwakte op acetylcholinesteraseremmers CANDIDATE -en nl HP:0030203 IAO:0000115 Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor NOT_TRANSLATED -en nl HP:0030205 rdfs:label Increased jitter at single fiber EMG Increased jitter at single fiber EMG NOT_TRANSLATED -en nl HP:0030205 IAO:0000115 The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG) The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG) NOT_TRANSLATED -en nl HP:0030206 rdfs:label EMG: incremental response of compound muscle action potential to repetitive nerve stimulation EMG: incremental response of compound muscle action potential to repetitive nerve stimulation NOT_TRANSLATED -en nl HP:0030206 IAO:0000115 A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation NOT_TRANSLATED -en nl HP:0030207 rdfs:label Paradoxical respiration Paradoxical respiration NOT_TRANSLATED -en nl HP:0030207 IAO:0000115 Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing NOT_TRANSLATED -en nl HP:0030208 rdfs:label Anti-acetylcholine receptor antibody positivity Anti-acetylcholine receptor antibody positivity NOT_TRANSLATED -en nl HP:0030208 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury NOT_TRANSLATED -en nl HP:0030209 rdfs:label Calcium channel antibody positivity Calcium channel antibody positivity NOT_TRANSLATED -en nl HP:0030209 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels NOT_TRANSLATED -en nl HP:0030210 rdfs:label Anti-muscle-specific tyrosine kinase antibody Anti-muscle-specific tyrosine kinase antibody NOT_TRANSLATED -en nl HP:0030210 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab) The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab) NOT_TRANSLATED -en nl HP:0030211 rdfs:label Slow pupillary light response Trage pupilreactie op licht CANDIDATE -en nl HP:0030211 IAO:0000115 Reduced velocity and acceleration in the pupillary light response Reduced velocity and acceleration in the pupillary light response NOT_TRANSLATED -en nl HP:0030212 rdfs:label Collectionism Collectionism NOT_TRANSLATED -en nl HP:0030212 IAO:0000115 Excessive or pathological tendency to save and collect possessions Excessive or pathological tendency to save and collect possessions NOT_TRANSLATED -en nl HP:0030213 rdfs:label Emotional blunting Emotional blunting NOT_TRANSLATED -en nl HP:0030213 IAO:0000115 Lack of emotional reactivity and empathy for situations or persons, sometime also for family members Lack of emotional reactivity and empathy for situations or persons, sometime also for family members NOT_TRANSLATED -en nl HP:0030214 rdfs:label Hypersexuality Hyperseksualiteit CANDIDATE -en nl HP:0030214 IAO:0000115 Pathological persistent sexual disinhibiting behavior, directed at oneself or to others Pathological persistent sexual disinhibiting behavior, directed at oneself or to others NOT_TRANSLATED -en nl HP:0030215 rdfs:label Inappropriate crying Ongepast huilen CANDIDATE -en nl HP:0030215 IAO:0000115 Uncontrolled episodes of crying, without apparent motivating stimuli Uncontrolled episodes of crying, without apparent motivating stimuli NOT_TRANSLATED -en nl HP:0030216 rdfs:label Inertia Inertie CANDIDATE -en nl HP:0030216 IAO:0000115 Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example) Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example) NOT_TRANSLATED -en nl HP:0030217 rdfs:label Limb apraxia Ledemaat apraxie CANDIDATE -en nl HP:0030217 IAO:0000115 Difficulty in performing the correct execution of limbs movements in absence of motor impairment Difficulty in performing the correct execution of limbs movements in absence of motor impairment NOT_TRANSLATED -en nl HP:0030218 rdfs:label Punding Punding CANDIDATE -en nl HP:0030218 IAO:0000115 Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects NOT_TRANSLATED -en nl HP:0030219 rdfs:label Semantic dementia Semantische dementie CANDIDATE -en nl HP:0030219 IAO:0000115 A progressive loss of the ability to remember the meaning of words, faces and objects A progressive loss of the ability to remember the meaning of words, faces and objects NOT_TRANSLATED -en nl HP:0030220 rdfs:label Socially inappropriate behavior Sociaal ongepast gedrag CANDIDATE -en nl HP:0030220 IAO:0000115 Behavior that is not in line with social norms Behavior that is not in line with social norms NOT_TRANSLATED -en nl HP:0030221 rdfs:label Sweet craving Zoet craving CANDIDATE -en nl HP:0030221 IAO:0000115 Excessive desire to eat sweet foods Excessive desire to eat sweet foods NOT_TRANSLATED -en nl HP:0030222 rdfs:label Visual agnosia Visuele agnosie CANDIDATE -en nl HP:0030222 IAO:0000115 Difficulty in recognizing objects by visual input in absence of sensorial visual impairment Difficulty in recognizing objects by visual input in absence of sensorial visual impairment NOT_TRANSLATED -en nl HP:0030223 rdfs:label Perseveration Perseveratie CANDIDATE -en nl HP:0030223 IAO:0000115 Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact NOT_TRANSLATED -en nl HP:0030224 rdfs:label Abnormal muscle fiber desmin Afwijkend spiervezel desmine CANDIDATE -en nl HP:0030224 IAO:0000115 A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein NOT_TRANSLATED -en nl HP:0030225 rdfs:label Accumulation of muscle fiber desmin Accumulatie van spiervezel desmine CANDIDATE -en nl HP:0030225 IAO:0000115 Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030226 rdfs:label Abnormal muscle fiber myotilin Afwijkend spiervezel myotiline CANDIDATE -en nl HP:0030226 IAO:0000115 A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein NOT_TRANSLATED -en nl HP:0030227 rdfs:label Accumulation of muscle fiber myotilin Accumulatie van spiervezel myotiline CANDIDATE -en nl HP:0030227 IAO:0000115 Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030228 rdfs:label Abnormal muscle fiber valosin-containing protein Afwijkend eiwit dat valosine bevat in spiervezel CANDIDATE -en nl HP:0030228 IAO:0000115 A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family NOT_TRANSLATED -en nl HP:0030229 rdfs:label Accumulation of muscle fiber valosin-containing protein Accumulatie van eiwit dat valosine bevat in spiervezel CANDIDATE -en nl HP:0030229 IAO:0000115 Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy NOT_TRANSLATED -en nl HP:0030230 rdfs:label Central core regions in muscle fibers Central core regions in muscle fibers NOT_TRANSLATED -en nl HP:0030230 IAO:0000115 The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric NOT_TRANSLATED -en nl HP:0030231 rdfs:label Glycogen accumulation in muscle fiber lysosomes Glycogeen accumulatie in spiervezel lysosomen CANDIDATE -en nl HP:0030231 IAO:0000115 An increased amount of glycogen in muscle tissue found specifically in lysosomes An increased amount of glycogen in muscle tissue found specifically in lysosomes NOT_TRANSLATED -en nl HP:0030232 rdfs:label Increased sarcoplasmic glycogen Verhoogd sarcoplasmatisch glycogeen CANDIDATE -en nl HP:0030232 IAO:0000115 Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers NOT_TRANSLATED -en nl HP:0030233 rdfs:label Bethlem sign Bethlem sign NOT_TRANSLATED -en nl HP:0030233 IAO:0000115 Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures NOT_TRANSLATED -en nl HP:0030234 rdfs:label Highly elevated creatine kinase Verhoogd serum creatinefosfokinase CANDIDATE -en nl HP:0030234 IAO:0000115 An increased CPK level between 4X and 50X above the upper normal level An increased CPK level between 4X and 50X above the upper normal level NOT_TRANSLATED -en nl HP:0030235 rdfs:label Extremely elevated creatine kinase Extreem verhoogd serum creatinefosfokinase CANDIDATE -en nl HP:0030235 IAO:0000115 An increased creatine kinase level more than 50X above the upper normal level An increased creatine kinase level more than 50X above the upper normal level NOT_TRANSLATED -en nl HP:0030236 rdfs:label Abnormality of muscle size Afwijking in spier grootte CANDIDATE -en nl HP:0030236 IAO:0000115 Abnormalities of the overall muscle bulk based on clinical observation Abnormalities of the overall muscle bulk based on clinical observation NOT_TRANSLATED -en nl HP:0030237 rdfs:label Hand muscle weakness Hand spierzwakte CANDIDATE -en nl HP:0030237 IAO:0000115 Reduced strength of the musculature of the hand Reduced strength of the musculature of the hand NOT_TRANSLATED -en nl HP:0030239 rdfs:label Hypoplasia of the upper arm musculature Hypoplasie van de bovenarm musculatuur CANDIDATE -en nl HP:0030239 IAO:0000115 Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis NOT_TRANSLATED -en nl HP:0030241 rdfs:label Hypoplasia of deltoid muscle Hypoplasie van de musculus deltoideus CANDIDATE -en nl HP:0030241 IAO:0000115 Underdevelopment of the deltoid muscle Underdevelopment of the deltoid muscle NOT_TRANSLATED -en nl HP:0030242 rdfs:label Portal vein thrombosis Vena porta trombose CANDIDATE -en nl HP:0030242 IAO:0000115 Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins NOT_TRANSLATED -en nl HP:0030243 rdfs:label Hepatic vein thrombosis Vena hepatica trombose CANDIDATE -en nl HP:0030243 IAO:0000115 An obstruction in the veins of the liver caused by a blood clot (thrombosis) An obstruction in the veins of the liver caused by a blood clot (thrombosis) NOT_TRANSLATED -en nl HP:0030244 rdfs:label Maternal fever in pregnancy Maternale koorts tijdens de zwangerschap CANDIDATE -en nl HP:0030244 IAO:0000115 The occurence of an elevated body temperature of the mother during pregnancy The occurence of an elevated body temperature of the mother during pregnancy NOT_TRANSLATED -en nl HP:0030245 rdfs:label Intrapartum fever Intrapartum koorts CANDIDATE -en nl HP:0030245 IAO:0000115 The occurence of maternal fever during labor The occurence of maternal fever during labor NOT_TRANSLATED -en nl HP:0030246 rdfs:label Maternal first trimester fever Maternale eerste trimester koorts CANDIDATE -en nl HP:0030246 IAO:0000115 The occurence of fever in a mother during the first trimester of pregnancy The occurence of fever in a mother during the first trimester of pregnancy NOT_TRANSLATED -en nl HP:0030247 rdfs:label Splanchnic vein thrombosis Splanchnicus trombose CANDIDATE -en nl HP:0030247 IAO:0000115 The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity) The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity) NOT_TRANSLATED -en nl HP:0030248 rdfs:label Mesenteric venous thrombosis Vena mesenterica trombose CANDIDATE -en nl HP:0030248 IAO:0000115 A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine) A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine) NOT_TRANSLATED -en nl HP:0030249 rdfs:label Enanthema Enantheem CANDIDATE -en nl HP:0030249 IAO:0000115 A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx NOT_TRANSLATED -en nl HP:0030250 rdfs:label Pulmonary granulomatosis Pulmonale granulomatose CANDIDATE -en nl HP:0030250 IAO:0000115 The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung NOT_TRANSLATED -en nl HP:0030251 rdfs:label Absence of memory B cells Afwezigheid van B-geheugencellen CANDIDATE -en nl HP:0030251 IAO:0000115 Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin NOT_TRANSLATED -en nl HP:0030252 rdfs:label Absent circulating B cells Afwezigheid van rijpe B-cellen CANDIDATE -en nl HP:0030252 IAO:0000115 Complete lack of mature B cells, that is, of B cells that have left the bone marrow Complete lack of mature B cells, that is, of B cells that have left the bone marrow NOT_TRANSLATED -en nl HP:0030253 rdfs:label Defective T cell proliferation Defecte T-celproliferatie CANDIDATE -en nl HP:0030253 IAO:0000115 A reduced ability of a T cell population to expand by cell division following T cell activation A reduced ability of a T cell population to expand by cell division following T cell activation NOT_TRANSLATED -en nl HP:0030254 rdfs:label Nail bed hemorrhage Nagelbed bloeding CANDIDATE -en nl HP:0030254 IAO:0000115 Small areas of bleeding (hemorrhage) under the fingernail or toenail Small areas of bleeding (hemorrhage) under the fingernail or toenail NOT_TRANSLATED -en nl HP:0030255 rdfs:label Large intestinal polyposis Polyposis van dikke darm CANDIDATE -en nl HP:0030255 IAO:0000115 The presence of multiple polyps in the large intestine The presence of multiple polyps in the large intestine NOT_TRANSLATED -en nl HP:0030256 rdfs:label Small intestinal polyposis Polyposis van dunne darm CANDIDATE -en nl HP:0030256 IAO:0000115 The presence of multiple polyps in the small intestine The presence of multiple polyps in the small intestine NOT_TRANSLATED -en nl HP:0030257 rdfs:label Freckled genitalia Sproeterige genitaliën CANDIDATE -en nl HP:0030257 IAO:0000115 One or more brown punctate macules on the skin of the genitalia One or more brown punctate macules on the skin of the genitalia NOT_TRANSLATED -en nl HP:0030258 rdfs:label Hyperpigmented genitalia Gehyperpigmenteerde genitaliën CANDIDATE -en nl HP:0030258 IAO:0000115 Localized or generalized increased genital pigmentation Localized or generalized increased genital pigmentation NOT_TRANSLATED -en nl HP:0030259 rdfs:label Hypopigmented genitalia Gehypopigmenteerde genitaliën CANDIDATE -en nl HP:0030259 IAO:0000115 Localized or generalized decreased genital pigmentation Localized or generalized decreased genital pigmentation NOT_TRANSLATED -en nl HP:0030260 rdfs:label Microphallus Micropenis CANDIDATE -en nl HP:0030260 IAO:0000115 Length of penis more than 2 SD below the mean for age accompanied by hypospadias Length of penis more than 2 SD below the mean for age accompanied by hypospadias NOT_TRANSLATED -en nl HP:0030261 rdfs:label Absent penis Afwezige penis CANDIDATE -en nl HP:0030261 IAO:0000115 Lack of recognizable penile structures Lack of recognizable penile structures NOT_TRANSLATED -en nl HP:0030262 rdfs:label Narrow penis Smalle penis CANDIDATE -en nl HP:0030262 IAO:0000115 Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age NOT_TRANSLATED -en nl HP:0030263 rdfs:label Torsion of the penis Torsie van de penis CANDIDATE -en nl HP:0030263 IAO:0000115 Rotated position of the glans, with or without the penile shaft, of 30 degrees or more Rotated position of the glans, with or without the penile shaft, of 30 degrees or more NOT_TRANSLATED -en nl HP:0030264 rdfs:label Webbed penis Webbed penis NOT_TRANSLATED -en nl HP:0030264 IAO:0000115 Ventral skinfold extending from penis to scrotum Ventral skinfold extending from penis to scrotum NOT_TRANSLATED -en nl HP:0030265 rdfs:label Wide penis Brede penis CANDIDATE -en nl HP:0030265 IAO:0000115 Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age NOT_TRANSLATED -en nl HP:0030267 rdfs:label Calcification of the interosseus membrane of the forearm Calcification of the interosseus membrane of the forearm NOT_TRANSLATED -en nl HP:0030267 IAO:0000115 Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna NOT_TRANSLATED -en nl HP:0030268 rdfs:label Hyperplastic callus formation Hyperplastische callusformatie CANDIDATE -en nl HP:0030268 IAO:0000115 Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing NOT_TRANSLATED -en nl HP:0030269 rdfs:label Increased circulating insulin-like growth factor 1 concentration Verhoogd serum insulin-like growth factor 1 CANDIDATE -en nl HP:0030269 IAO:0000115 An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED -en nl HP:0030270 rdfs:label Elevated red cell adenosine deaminase level Elevated red cell adenosine deaminase level NOT_TRANSLATED -en nl HP:0030270 IAO:0000115 Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine NOT_TRANSLATED -en nl HP:0030271 rdfs:label Reduced erythrocyte 2,3-diphosphoglycerate concentration Reduced erythrocyte 2,3-diphosphoglycerate concentration NOT_TRANSLATED -en nl HP:0030271 IAO:0000115 This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation NOT_TRANSLATED -en nl HP:0030272 rdfs:label Abnormal erythrocyte enzyme level Afwijjkende erytrocyt enzym activiteit CANDIDATE -en nl HP:0030272 IAO:0000115 An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme NOT_TRANSLATED -en nl HP:0030273 rdfs:label Reduced red cell adenosine deaminase level Verminderde rode cel adenosine deaminase activiteit CANDIDATE -en nl HP:0030273 IAO:0000115 Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine NOT_TRANSLATED -en nl HP:0030274 rdfs:label Accessory scrotum Extra scrotum CANDIDATE -en nl HP:0030274 IAO:0000115 Additional scrotum, or part of a scrotum in an abnormal location Additional scrotum, or part of a scrotum in an abnormal location NOT_TRANSLATED -en nl HP:0030275 rdfs:label Ectopic scrotum Ectopisch scrotum CANDIDATE -en nl HP:0030275 IAO:0000115 Scrotum in a position other than the usual position inferior to the base of the penis Scrotum in a position other than the usual position inferior to the base of the penis NOT_TRANSLATED -en nl HP:0030277 rdfs:label Abnormal vertebral pedicle morphology Abnormale vertebrale pedikel morfologie CANDIDATE -en nl HP:0030277 IAO:0000115 Abnormal morphology of a vertebral pedical Abnormal morphology of a vertebral pedical NOT_TRANSLATED -en nl HP:0030278 rdfs:label Hypoplastic vertebral pedicle Hypoplastische vertebrale pedikel CANDIDATE -en nl HP:0030278 IAO:0000115 Underdeveloped vertebral pedicle Underdeveloped vertebral pedicle NOT_TRANSLATED -en nl HP:0030279 rdfs:label Hypoplastic L5 vertebral pedicle Hypoplastische L5 vertebrale pedikel CANDIDATE -en nl HP:0030279 IAO:0000115 Underdeveloped pedicle of the fifth lumbar vertebra Underdeveloped pedicle of the fifth lumbar vertebra NOT_TRANSLATED -en nl HP:0030280 rdfs:label Rib gap Rib gap NOT_TRANSLATED -en nl HP:0030280 IAO:0000115 Radiolucent focal defect of a rib shaft Radiolucent focal defect of a rib shaft NOT_TRANSLATED -en nl HP:0030281 rdfs:label Cervical C3/C4 vertebral fusion Cervicale wervel C3/C4-fusie CANDIDATE -en nl HP:0030281 IAO:0000115 Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development NOT_TRANSLATED -en nl HP:0030282 rdfs:label Posterior rib gap Posterior rib gap NOT_TRANSLATED -en nl HP:0030282 IAO:0000115 Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest NOT_TRANSLATED -en nl HP:0030283 rdfs:label Partial absence of the septum pellucidum Partiële afwezigheid van het septum pellucidum CANDIDATE -en nl HP:0030283 IAO:0000115 Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain NOT_TRANSLATED -en nl HP:0030284 rdfs:label Triangular tongue Driehoekige tong CANDIDATE -en nl HP:0030284 IAO:0000115 A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle NOT_TRANSLATED -en nl HP:0030285 rdfs:label Splayed superior cerebellar peduncle Splayed superior cerebellar peduncle NOT_TRANSLATED -en nl HP:0030285 IAO:0000115 Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle NOT_TRANSLATED -en nl HP:0030286 rdfs:label Atrophic superior cerebellar peduncle Atrophic superior cerebellar peduncle NOT_TRANSLATED -en nl HP:0030286 IAO:0000115 Atrophy of the superior cerebellar peduncle Atrophy of the superior cerebellar peduncle NOT_TRANSLATED -en nl HP:0030289 rdfs:label Flattened femoral epiphysis Afgevlakte epifyse van femur CANDIDATE -en nl HP:0030289 IAO:0000115 An abnormal flattening of an epiphysis of femur An abnormal flattening of an epiphysis of femur NOT_TRANSLATED -en nl HP:0030290 rdfs:label Unossified sacrum Niet-geossificeerd sacrum CANDIDATE -en nl HP:0030290 IAO:0000115 Lack of ossification of the sacrum Lack of ossification of the sacrum NOT_TRANSLATED -en nl HP:0030291 rdfs:label Lower-limb metaphyseal irregularity Onregelmatigheid van metafyse van onderste ledemaat CANDIDATE -en nl HP:0030291 IAO:0000115 Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg NOT_TRANSLATED -en nl HP:0030292 rdfs:label Tibial metaphyseal irregularity Onregelmatigheid van metafyse van tibia CANDIDATE -en nl HP:0030292 IAO:0000115 Irregularity of the normally smooth surface of a metaphysis of a tibia Irregularity of the normally smooth surface of a metaphysis of a tibia NOT_TRANSLATED -en nl HP:0030293 rdfs:label Fibular metaphyseal irregularity Onregelmatigheid van metafyse van fibula CANDIDATE -en nl HP:0030293 IAO:0000115 Irregularity of the normally smooth surface of a metaphysis of a fibula Irregularity of the normally smooth surface of a metaphysis of a fibula NOT_TRANSLATED -en nl HP:0030294 rdfs:label Metaphyseal chondromatosis of tibia Metafysaire chondromatose van tibia CANDIDATE -en nl HP:0030295 rdfs:label Metaphyseal chondromatosis of femur Metafysaire chondromatose van femur CANDIDATE -en nl HP:0030296 rdfs:label Metaphyseal chondromatosis of radius Metafysaire chondromatose van radius CANDIDATE -en nl HP:0030297 rdfs:label Metaphyseal chondromatosis of ulna Metafysaire chondromatose van ulna CANDIDATE -en nl HP:0030298 rdfs:label Metaphyseal chondromatosis of humerus Metafysaire chondromatose van humerus CANDIDATE -en nl HP:0030299 rdfs:label Distal femoral metaphyseal abnormality Distale femorale metafysaire afwijking CANDIDATE -en nl HP:0030299 IAO:0000115 An anomaly of the metaphysis of the distal femur (close to the knee) An anomaly of the metaphysis of the distal femur (close to the knee) NOT_TRANSLATED -en nl HP:0030300 rdfs:label 10 pairs of ribs 10 paar ribben CANDIDATE -en nl HP:0030300 IAO:0000115 Presence of only 10 (instead of the usual 12) pairs of ribs Presence of only 10 (instead of the usual 12) pairs of ribs NOT_TRANSLATED -en nl HP:0030301 rdfs:label Abnormality of the anterior commissure Afwijking van de voorste commissuur CANDIDATE -en nl HP:0030301 IAO:0000115 An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts NOT_TRANSLATED -en nl HP:0030302 rdfs:label Agenesis of the anterior commissure Agenesie van de voorste commissuur CANDIDATE -en nl HP:0030302 IAO:0000115 Absence of the anterior commissure Absence of the anterior commissure NOT_TRANSLATED -en nl HP:0030303 rdfs:label Hypoplastic anterior commissure Hypoplastische voorste commissuur CANDIDATE -en nl HP:0030303 IAO:0000115 Underdevelopment of the anterior commissure Underdevelopment of the anterior commissure NOT_TRANSLATED -en nl HP:0030304 rdfs:label Abnormal number of vertebrae Afwijkend aantal wervels CANDIDATE -en nl HP:0030304 IAO:0000115 A deviation from the normal number of vertebrae in the spinal column A deviation from the normal number of vertebrae in the spinal column NOT_TRANSLATED -en nl HP:0030305 rdfs:label Decreased number of vertebrae Afgenomen aantal wervels CANDIDATE -en nl HP:0030306 rdfs:label 11 thoracic vertebrae 11 thoracale wervels CANDIDATE -en nl HP:0030306 IAO:0000115 The presence of 11 instead of the normal 12 thoracic vertebrae The presence of 11 instead of the normal 12 thoracic vertebrae NOT_TRANSLATED -en nl HP:0030307 rdfs:label Flared lower limb metaphysis Flared lower limb metaphysis NOT_TRANSLATED -en nl HP:0030307 IAO:0000115 The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg NOT_TRANSLATED -en nl HP:0030308 rdfs:label Flared distal tibial metaphysis Flared distal tibial metaphysis NOT_TRANSLATED -en nl HP:0030308 IAO:0000115 The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia NOT_TRANSLATED -en nl HP:0030309 rdfs:label Flared distal fibular metaphysis Flared distal fibular metaphysis NOT_TRANSLATED -en nl HP:0030309 IAO:0000115 The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula NOT_TRANSLATED -en nl HP:0030310 rdfs:label Upper extremity joint dislocation Bovenste extremiteit gewrichts dislocatie CANDIDATE -en nl HP:0030310 IAO:0000115 Displacement or malalignment of one or more joints in the upper extremity (arm) Displacement or malalignment of one or more joints in the upper extremity (arm) NOT_TRANSLATED -en nl HP:0030311 rdfs:label Lower extremity joint dislocation Onderste extremiteit gewrichts dislocatie CANDIDATE -en nl HP:0030311 IAO:0000115 Displacement or malalignment of one or more joints in the lower extremity (leg) Displacement or malalignment of one or more joints in the lower extremity (leg) NOT_TRANSLATED -en nl HP:0030312 rdfs:label Obliteration of the calvarial diploe Obliteration of the calvarial diploe NOT_TRANSLATED -en nl HP:0030312 IAO:0000115 Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe) Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe) NOT_TRANSLATED -en nl HP:0030313 rdfs:label Abnormal periosteum morphology Afwijkende periosteum morfologie CANDIDATE -en nl HP:0030313 IAO:0000115 An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones NOT_TRANSLATED -en nl HP:0030314 rdfs:label Periostosis Periostose CANDIDATE -en nl HP:0030314 IAO:0000115 Abnormal deposition of periosteal bone Abnormal deposition of periosteal bone NOT_TRANSLATED -en nl HP:0030318 rdfs:label Angular cheilitis Hoekige cheilitis CANDIDATE -en nl HP:0030318 IAO:0000115 A type of inflammation of the lips involving one or both of the corners of the mouth A type of inflammation of the lips involving one or both of the corners of the mouth NOT_TRANSLATED -en nl HP:0030319 rdfs:label Weakness of facial musculature Weakness of facial musculature NOT_TRANSLATED -en nl HP:0030319 IAO:0000115 Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve) Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED -en nl HP:0030320 rdfs:label Increased intervertebral space Toegenomen intervertebrale ruimte CANDIDATE -en nl HP:0030320 IAO:0000115 An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space NOT_TRANSLATED -en nl HP:0030321 rdfs:label Abnormal vertebral artery morphology Afwijkende arteria vertebralis morfologie CANDIDATE -en nl HP:0030321 IAO:0000115 An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system NOT_TRANSLATED -en nl HP:0030322 rdfs:label Vertebral artery hypoplasia Arteria vertebralis hypoplasie CANDIDATE -en nl HP:0030322 IAO:0000115 Underdevelopment of the vertebral artery Underdevelopment of the vertebral artery NOT_TRANSLATED -en nl HP:0030323 rdfs:label Unilateral vertebral artery hypoplasia Unilaterale arteria vertebralis hypoplasie CANDIDATE -en nl HP:0030323 IAO:0000115 Underdevelopment of the vertebral artery on one side Underdevelopment of the vertebral artery on one side NOT_TRANSLATED -en nl HP:0030324 rdfs:label Bilateral vertebral artery hypoplasia Bilaterale arteria vertebralis hypoplasie CANDIDATE -en nl HP:0030324 IAO:0000115 Underdevelopment of the vertebral artery on both sides Underdevelopment of the vertebral artery on both sides NOT_TRANSLATED -en nl HP:0030325 rdfs:label Cervicomedullary schisis Cervicomedullaire schisis CANDIDATE -en nl HP:0030325 IAO:0000115 Fissure within the spinal cord of the neck Fissure within the spinal cord of the neck NOT_TRANSLATED -en nl HP:0030326 rdfs:label Abnormal macrophage count Afwijkend aantal macrofagen CANDIDATE -en nl HP:0030326 IAO:0000115 An anomaly in the number of macrophages An anomaly in the number of macrophages NOT_TRANSLATED -en nl HP:0030327 rdfs:label Abnormal osteoclast count Afwijkend aantal van osteoclasten CANDIDATE -en nl HP:0030327 IAO:0000115 An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue NOT_TRANSLATED -en nl HP:0030328 rdfs:label Decreased osteoclast count Afgenomen aantal van osteoclasten CANDIDATE -en nl HP:0030328 IAO:0000115 Decreased number of osteoclasts in bone tissue Decreased number of osteoclasts in bone tissue NOT_TRANSLATED -en nl HP:0030329 rdfs:label Retinal thinning Retinale verdunning CANDIDATE -en nl HP:0030329 IAO:0000115 Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT) Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT) NOT_TRANSLATED -en nl HP:0030330 rdfs:label Multinucleated giant chondrocytes in epiphyseal cartilage Multinucleated giant chondrocytes in epiphyseal cartilage NOT_TRANSLATED -en nl HP:0030330 IAO:0000115 The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage NOT_TRANSLATED -en nl HP:0030331 rdfs:label Impaired stimulus-induced skin wrinkling Impaired stimulus-induced skin wrinkling NOT_TRANSLATED -en nl HP:0030331 IAO:0000115 A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth) A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth) NOT_TRANSLATED -en nl HP:0030333 rdfs:label Abnormal alpha-beta T cell morphology Afwijkende alfa-beta T-cell morfologie CANDIDATE -en nl HP:0030333 IAO:0000115 A structuraly anomaly of T cells that express an alpha-beta T cell receptor A structuraly anomaly of T cells that express an alpha-beta T cell receptor NOT_TRANSLATED -en nl HP:0030334 rdfs:label Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology Afwijkende CD4-positieve, CD25-positieve, alfa-beta regulerende T-cellen morfologie CANDIDATE -en nl HP:0030334 IAO:0000115 A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells NOT_TRANSLATED -en nl HP:0030335 rdfs:label Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count Afwijkend aantal CD4-positieve, CD25-positieve, alfa-beta regulerende T-cellen CANDIDATE -en nl HP:0030335 IAO:0000115 A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells NOT_TRANSLATED -en nl HP:0030336 rdfs:label Absence of CD4-positive, CD25-positive regulatory T cells Afwezige CD4-positieve, CD25-positieve regulerende T-cellen CANDIDATE -en nl HP:0030336 IAO:0000115 Lack of CD4+CD25+ T regulatory cells Lack of CD4+CD25+ T regulatory cells NOT_TRANSLATED -en nl HP:0030337 rdfs:label Elevated CD4-positive, CD25-positive regulatory T cell count Verhoogd aantal CD4-positieve, CD25-positieve regulerende T-cellen CANDIDATE -en nl HP:0030337 IAO:0000115 An increased number of CD4-positive, CD25-positive regulatory T cells An increased number of CD4-positive, CD25-positive regulatory T cells NOT_TRANSLATED -en nl HP:0030338 rdfs:label Abnormal circulating gonadotropin concentration Afwijkend circulerend gonadotrofinen niveau CANDIDATE -en nl HP:0030338 IAO:0000115 An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) NOT_TRANSLATED -en nl HP:0030339 rdfs:label Decreased circulating gonadotropin concentration Verminderd circulerend gonadotropine niveau CANDIDATE -en nl HP:0030339 IAO:0000115 A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) NOT_TRANSLATED -en nl HP:0030341 rdfs:label Decreased circulating follicle stimulating hormone concentration Verminderd circulerend follikelstimulerend hormoon niveau CANDIDATE -en nl HP:0030341 IAO:0000115 A reduction of the circulating level of follicle-stimulating hormone (FSH) A reduction of the circulating level of follicle-stimulating hormone (FSH) NOT_TRANSLATED -en nl HP:0030344 rdfs:label Decreased circulating luteinizing hormone level Verminderd circulerend niveau van het luteïniserend hormoon CANDIDATE -en nl HP:0030344 IAO:0000115 A reduction in the circulating level of luteinizing hormone (LH) A reduction in the circulating level of luteinizing hormone (LH) NOT_TRANSLATED -en nl HP:0030345 rdfs:label Abnormal circulating luteinizing hormone concentration Afwijkend circulerend niveau van het luteïniserend hormoon CANDIDATE -en nl HP:0030345 IAO:0000115 An anomaly of the circulating level of luteinizing hormone (LH) An anomaly of the circulating level of luteinizing hormone (LH) NOT_TRANSLATED -en nl HP:0030346 rdfs:label Abnormal circulating follicle-stimulating hormone concentration Afwijkend circulerend follikelstimulerend hormoon niveau CANDIDATE -en nl HP:0030346 IAO:0000115 An anomaly of the circulating level of follicle-stimulating hormone (FSH) An anomaly of the circulating level of follicle-stimulating hormone (FSH) NOT_TRANSLATED -en nl HP:0030347 rdfs:label Abnormal circulating androgen level Afwijkend circulerende androgeen niveau CANDIDATE -en nl HP:0030347 IAO:0000115 An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone NOT_TRANSLATED -en nl HP:0030348 rdfs:label Increased circulating androgen concentration Toegenomen circulerend androgeen-niveau CANDIDATE -en nl HP:0030348 IAO:0000115 An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone NOT_TRANSLATED -en nl HP:0030349 rdfs:label Decreased circulating androgen concentration Verminderd circulerend androgeen niveau CANDIDATE -en nl HP:0030349 IAO:0000115 A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone NOT_TRANSLATED -en nl HP:0030350 rdfs:label Erythematous papule Erythemateuze papel CANDIDATE -en nl HP:0030350 IAO:0000115 A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color NOT_TRANSLATED -en nl HP:0030351 rdfs:label Urticarial plaque Urticariële plaque CANDIDATE -en nl HP:0030351 IAO:0000115 A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter NOT_TRANSLATED -en nl HP:0030352 rdfs:label Abnormal serum insulin-like growth factor 1 level Afwikend serum insulin-like growth factor 1 niveau CANDIDATE -en nl HP:0030352 IAO:0000115 An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED -en nl HP:0030353 rdfs:label Decreased serum insulin-like growth factor 1 Afgenomen serum insulin-like growth factor 1 CANDIDATE -en nl HP:0030353 IAO:0000115 A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED -en nl HP:0030354 rdfs:label Abnormal circulating interferon concentration Afwijkend serum interferon niveau CANDIDATE -en nl HP:0030354 IAO:0000115 Abnormal levels of interferon in the blood Abnormal levels of interferon in the blood NOT_TRANSLATED -en nl HP:0030355 rdfs:label Abnormal circulating interferon-gamma concentration Afwijkend serum interferon-gamma niveau CANDIDATE -en nl HP:0030355 IAO:0000115 Abnormal levels of interferon gamma measured in the blood circulation Abnormal levels of interferon gamma measured in the blood circulation NOT_TRANSLATED -en nl HP:0030356 rdfs:label Increased circulating interferon-gamma concentration Verhoogd serum interferon-gamma niveau CANDIDATE -en nl HP:0030356 IAO:0000115 An elevation in the concentration of interferon gamma measured in the blood circulation An elevation in the concentration of interferon gamma measured in the blood circulation NOT_TRANSLATED -en nl HP:0030357 rdfs:label Small cell lung carcinoma Kleincellig longcarcinoom CANDIDATE -en nl HP:0030357 IAO:0000115 Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly NOT_TRANSLATED -en nl HP:0030358 rdfs:label Non-small cell lung carcinoma Niet-kleincellig longcarcinoom CANDIDATE -en nl HP:0030359 rdfs:label Squamous cell lung carcinoma Plaveiselcelcarcinoom van long CANDIDATE -en nl HP:0030359 IAO:0000115 A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells NOT_TRANSLATED -en nl HP:0030360 rdfs:label Large cell lung carcinoma Grootcellig longcarcinoom CANDIDATE -en nl HP:0030360 IAO:0000115 A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin NOT_TRANSLATED -en nl HP:0030361 rdfs:label Abnormal circulating eicosanoid concentration Afwijking van eicosanoïden metabolisme CANDIDATE -en nl HP:0030361 IAO:0000115 Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid) Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid) NOT_TRANSLATED -en nl HP:0030362 rdfs:label Reduced muscle carnitine level Verminderd spier carnitine niveau CANDIDATE -en nl HP:0030362 IAO:0000115 A reduction in the level of carnitine in muscle tissue A reduction in the level of carnitine in muscle tissue NOT_TRANSLATED -en nl HP:0030363 rdfs:label Primary Caesarian section Primaire sectio caesarea CANDIDATE -en nl HP:0030363 IAO:0000115 Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section NOT_TRANSLATED -en nl HP:0030364 rdfs:label Secondary Caesarian section Secundaire sectio caesarea CANDIDATE -en nl HP:0030364 IAO:0000115 Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth NOT_TRANSLATED -en nl HP:0030365 rdfs:label Vaginal birth after Caesarian Vaginale geboorte na sectio caesarea CANDIDATE -en nl HP:0030365 IAO:0000115 Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally NOT_TRANSLATED -en nl HP:0030366 rdfs:label Delivery by Odon device Geboorte door Odon apparaat CANDIDATE -en nl HP:0030366 IAO:0000115 The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process NOT_TRANSLATED -en nl HP:0030367 rdfs:label Finger hyperphalangy Vinger hyperfalangie CANDIDATE -en nl HP:0030367 IAO:0000115 Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges NOT_TRANSLATED -en nl HP:0030368 rdfs:label Hyperphalangy of the 2nd finger Hyperfalangie van de 2e vinger CANDIDATE -en nl HP:0030368 IAO:0000115 An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy NOT_TRANSLATED -en nl HP:0030369 rdfs:label Induced vaginal delivery Geïnduceerde vaginale geboorte CANDIDATE -en nl HP:0030369 IAO:0000115 Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own NOT_TRANSLATED -en nl HP:0030370 rdfs:label Abnormal proportion of naive B cells Afwijkende proportie van naïeve B cellen CANDIDATE -en nl HP:0030370 IAO:0000115 A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen NOT_TRANSLATED -en nl HP:0030371 rdfs:label Increased proportion of naive B cells Toegenomen proportie van naïeve B cellen CANDIDATE -en nl HP:0030371 IAO:0000115 An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen NOT_TRANSLATED -en nl HP:0030372 rdfs:label Decreased proportion of naive B cells Afgenomen proportie van naïeve B cellen CANDIDATE -en nl HP:0030372 IAO:0000115 A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen NOT_TRANSLATED -en nl HP:0030373 rdfs:label Abnormal proportion of memory B cells Afwijkende proportie van B-geheugencellen CANDIDATE -en nl HP:0030373 IAO:0000115 A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) NOT_TRANSLATED -en nl HP:0030374 rdfs:label Decreased proportion of memory B cells Afgenomen proportie van B-geheugencellen CANDIDATE -en nl HP:0030374 IAO:0000115 A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) NOT_TRANSLATED -en nl HP:0030375 rdfs:label Increased proportion of memory B cells Toegenomen proportie van B-geheugencellen CANDIDATE -en nl HP:0030375 IAO:0000115 An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) NOT_TRANSLATED -en nl HP:0030376 rdfs:label Abnormal proportion of immature B cells Afwijkende proportie van onrijpe B-cellen CANDIDATE -en nl HP:0030376 IAO:0000115 A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) NOT_TRANSLATED -en nl HP:0030377 rdfs:label Increased proportion of immature B cells Toegenomen proportie van onrijpe B-cellen CANDIDATE -en nl HP:0030377 IAO:0000115 An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) NOT_TRANSLATED -en nl HP:0030378 rdfs:label Decreased proportion of immature B cells Afgenomen proportie van onrijpe B-cellen CANDIDATE -en nl HP:0030378 IAO:0000115 A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) NOT_TRANSLATED -en nl HP:0030379 rdfs:label Abnormal proportion of transitional B cells Afwijkende proportie van transitionele B-cellen CANDIDATE -en nl HP:0030379 IAO:0000115 A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells NOT_TRANSLATED -en nl HP:0030380 rdfs:label Decreased proportion of transitional B cells Afgenomen proportie van transitionele B-cellen CANDIDATE -en nl HP:0030380 IAO:0000115 A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells NOT_TRANSLATED -en nl HP:0030381 rdfs:label Increased proportion of transitional B cells Toegenomen proportie van transitionele B-cellen CANDIDATE -en nl HP:0030381 IAO:0000115 An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells NOT_TRANSLATED -en nl HP:0030383 rdfs:label Abnormal proportion of marginal zone B cells Afwijkende proportie van marginale zone B-cellen CANDIDATE -en nl HP:0030383 IAO:0000115 A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells NOT_TRANSLATED -en nl HP:0030384 rdfs:label Decreased proportion of marginal zone B cells Afgenomen proportie van marginale zone B-cellen CANDIDATE -en nl HP:0030384 IAO:0000115 A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells NOT_TRANSLATED -en nl HP:0030385 rdfs:label Increased proportion of marginal zone B cells Toegenomen proportie van marginale zone B-cellen CANDIDATE -en nl HP:0030385 IAO:0000115 An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells NOT_TRANSLATED -en nl HP:0030386 rdfs:label Abnormal proportion of class-switched memory B cells Afwijkende proportie van class-switched geheugen B-cellen CANDIDATE -en nl HP:0030386 IAO:0000115 A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA NOT_TRANSLATED -en nl HP:0030387 rdfs:label Increased proportion of class-switched memory B cells Toegenomen proportie van class-switched geheugen B-cellen CANDIDATE -en nl HP:0030387 IAO:0000115 An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA NOT_TRANSLATED -en nl HP:0030388 rdfs:label Decreased proportion of class-switched memory B cells Afgenomen proportie van class-switched geheugen B-cellen CANDIDATE -en nl HP:0030388 IAO:0000115 A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA NOT_TRANSLATED -en nl HP:0030389 rdfs:label Abnormal circulating thromboxane concentration Afwijking van tromboxaan metabolisme CANDIDATE -en nl HP:0030389 IAO:0000115 Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels NOT_TRANSLATED -en nl HP:0030390 rdfs:label Reduced circulating leukotriene C4 concentration Afwijking van leukotriënen metabolisme CANDIDATE -en nl HP:0030390 IAO:0000115 An abnormally decreased concentration of leukotriene C4 in the blood circulation An abnormally decreased concentration of leukotriene C4 in the blood circulation NOT_TRANSLATED -en nl HP:0030391 rdfs:label Spoken word recognition deficit Spoken word recognition deficit NOT_TRANSLATED -en nl HP:0030391 IAO:0000115 Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus NOT_TRANSLATED -en nl HP:0030392 rdfs:label Choroid plexus carcinoma Plexus choroideus carcinoom CANDIDATE -en nl HP:0030392 IAO:0000115 Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III NOT_TRANSLATED -en nl HP:0030393 rdfs:label Endolymphatic sac tumor Endolymfatische zak tumor CANDIDATE -en nl HP:0030393 IAO:0000115 A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin) A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin) NOT_TRANSLATED -en nl HP:0030394 rdfs:label Fallopian tube carcinoma Tuba carcinoom CANDIDATE -en nl HP:0030394 IAO:0000115 Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk NOT_TRANSLATED -en nl HP:0030396 rdfs:label Abnormal platelet granule secretion Afwijkende bloedplaatjes granule secretie CANDIDATE -en nl HP:0030396 IAO:0000115 Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion NOT_TRANSLATED -en nl HP:0030397 rdfs:label Abnormal platelet dense granule secretion Afwijkende bloedplaatjes dense granule secretie CANDIDATE -en nl HP:0030397 IAO:0000115 Abnormal release of dense granules from platelets Abnormal release of dense granules from platelets NOT_TRANSLATED -en nl HP:0030398 rdfs:label Abnormal platelet ATP dense granule secretion Afwijkende bloedplaatjes ATP dense granule secretie CANDIDATE -en nl HP:0030398 IAO:0000115 Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP) Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP) NOT_TRANSLATED -en nl HP:0030399 rdfs:label Abnormal platelet alpha granule secretion Afwijkende bloedplaatjes alfa-granule secretie CANDIDATE -en nl HP:0030399 IAO:0000115 Abnormal release of alpha granule contents from platelets Abnormal release of alpha granule contents from platelets NOT_TRANSLATED -en nl HP:0030400 rdfs:label Abnormal platelet lysosome secretion Afwijkende bloedplaatjes lysosoom secretie CANDIDATE -en nl HP:0030400 IAO:0000115 Abnormal release of lysosome contents from platelets Abnormal release of lysosome contents from platelets NOT_TRANSLATED -en nl HP:0030401 rdfs:label Abnormal platelet dense granule ATP/ADP ratio Afwijkende bloedplaatjes dense granule ATP/ADP ratio CANDIDATE -en nl HP:0030401 IAO:0000115 Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets NOT_TRANSLATED -en nl HP:0030402 rdfs:label Abnormal platelet aggregation Afwijkende bloedplaatjesaggregatie CANDIDATE -en nl HP:0030402 IAO:0000115 An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent NOT_TRANSLATED -en nl HP:0030403 rdfs:label Spontaneous platelet aggregation Spontane bloedplaatjesaggregatie CANDIDATE -en nl HP:0030403 IAO:0000115 Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation NOT_TRANSLATED -en nl HP:0030404 rdfs:label Glucagonoma Glucagonoom CANDIDATE -en nl HP:0030404 IAO:0000115 An endocrine tumor of the pancreas that secretes excessive amounts of glucagon An endocrine tumor of the pancreas that secretes excessive amounts of glucagon NOT_TRANSLATED -en nl HP:0030405 rdfs:label Pancreatic endocrine tumor Pancreatische endocriene tumor CANDIDATE -en nl HP:0030405 IAO:0000115 A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas NOT_TRANSLATED -en nl HP:0030406 rdfs:label Primary peritoneal carcinoma Primair peritoneaal carcinoom CANDIDATE -en nl HP:0030406 IAO:0000115 A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum NOT_TRANSLATED -en nl HP:0030407 rdfs:label Pineocytoma Pineocytoom CANDIDATE -en nl HP:0030407 IAO:0000115 A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) NOT_TRANSLATED -en nl HP:0030408 rdfs:label Pineoblastoma Pineoblastoom CANDIDATE -en nl HP:0030408 IAO:0000115 Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells NOT_TRANSLATED -en nl HP:0030409 rdfs:label Renal transitional cell carcinoma Renaal transitioneel cel carcinoom CANDIDATE -en nl HP:0030409 IAO:0000115 A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice NOT_TRANSLATED -en nl HP:0030410 rdfs:label Sebaceous gland carcinoma Talgklier carcinoom CANDIDATE -en nl HP:0030410 IAO:0000115 A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) NOT_TRANSLATED -en nl HP:0030411 rdfs:label Jejunal adenocarcinoma Jejunaal adenocarcinoom CANDIDATE -en nl HP:0030411 IAO:0000115 A malignant epithelial tumor with a glandular organization that originates in the jejunum A malignant epithelial tumor with a glandular organization that originates in the jejunum NOT_TRANSLATED -en nl HP:0030412 rdfs:label Ileal adenocarcinoma Ileaal adenocarcinoom CANDIDATE -en nl HP:0030412 IAO:0000115 A malignant epithelial tumor with a glandular organization that originates in the ileum A malignant epithelial tumor with a glandular organization that originates in the ileum NOT_TRANSLATED -en nl HP:0030413 rdfs:label Squamous cell carcinoma of the tongue Plaveiselcelcarcinoom van de tong CANDIDATE -en nl HP:0030413 IAO:0000115 A carcinoma derived from a squamous epithelial cell of the tongue A carcinoma derived from a squamous epithelial cell of the tongue NOT_TRANSLATED -en nl HP:0030414 rdfs:label Verrucous cell carcinoma of the tongue Verruceus carcinoom van de tong CANDIDATE -en nl HP:0030414 IAO:0000115 A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance NOT_TRANSLATED -en nl HP:0030415 rdfs:label Sarcomatoid carcinoma of the tongue Sarcomatoïde carcinoom van de tong CANDIDATE -en nl HP:0030415 IAO:0000115 Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation NOT_TRANSLATED -en nl HP:0030416 rdfs:label Vulvar neoplasm Vulva neoplasma CANDIDATE -en nl HP:0030416 IAO:0000115 A tumor (abnormal growth of tissue) of the female external genital tract (vulva) A tumor (abnormal growth of tissue) of the female external genital tract (vulva) NOT_TRANSLATED -en nl HP:0030417 rdfs:label Squamous cell carcinoma of the vulva Plaveiselcelcarcinoom van de vulva CANDIDATE -en nl HP:0030417 IAO:0000115 A cancer that originates in the squamous cells that line the surface of the vulva A cancer that originates in the squamous cells that line the surface of the vulva NOT_TRANSLATED -en nl HP:0030418 rdfs:label Vulvar melanoma Vulva melanoom CANDIDATE -en nl HP:0030418 IAO:0000115 A type of vulvar cancer that originates from melanocytes of the vulva A type of vulvar cancer that originates from melanocytes of the vulva NOT_TRANSLATED -en nl HP:0030419 rdfs:label Bartholin gland carcinoma Bartholin klier carcinoom CANDIDATE -en nl HP:0030419 IAO:0000115 A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina NOT_TRANSLATED -en nl HP:0030420 rdfs:label Vulvar adenocarcinoma Vulva adenocarcinoom CANDIDATE -en nl HP:0030420 IAO:0000115 An adenocarcinoma arising in the vulva An adenocarcinoma arising in the vulva NOT_TRANSLATED -en nl HP:0030421 rdfs:label Epididymal neoplasm Epididymaal neoplasma CANDIDATE -en nl HP:0030421 IAO:0000115 A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens NOT_TRANSLATED -en nl HP:0030423 rdfs:label Splenic cyst Milt cyste CANDIDATE -en nl HP:0030423 IAO:0000115 A closed sac located in the spleen A closed sac located in the spleen NOT_TRANSLATED -en nl HP:0030424 rdfs:label Epididymal cyst Epididymale cyste CANDIDATE -en nl HP:0030424 IAO:0000115 A smooth, extratesticular, spherical cyst in the head of the epididymis A smooth, extratesticular, spherical cyst in the head of the epididymis NOT_TRANSLATED -en nl HP:0030425 rdfs:label Calcified ovarian cyst Gecalcificeerde ovarium cyste CANDIDATE -en nl HP:0030425 IAO:0000115 A cyst of the ovary that exhibits deposition of calcium salts A cyst of the ovary that exhibits deposition of calcium salts NOT_TRANSLATED -en nl HP:0030426 rdfs:label Ossifying fibroma Ossificerend fibroom CANDIDATE -en nl HP:0030426 IAO:0000115 A benign central bone tumor composed of fibrous connective tissue within which bone is formed A benign central bone tumor composed of fibrous connective tissue within which bone is formed NOT_TRANSLATED -en nl HP:0030427 rdfs:label Ossifying fibroma of the jaw Ossifying fibroom van de kaak CANDIDATE -en nl HP:0030427 IAO:0000115 A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed NOT_TRANSLATED -en nl HP:0030428 rdfs:label Cutaneous myxoma Cutaan myxoom CANDIDATE -en nl HP:0030428 IAO:0000115 A myxoma originating in the skin A myxoma originating in the skin NOT_TRANSLATED -en nl HP:0030429 rdfs:label Juvenile nasopharyngeal angiofibroma Juveniel nasofaryngeaal angiofibroom CANDIDATE -en nl HP:0030429 IAO:0000115 A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity NOT_TRANSLATED -en nl HP:0030430 rdfs:label Neuroma Neuroom CANDIDATE -en nl HP:0030430 IAO:0000115 A tumor made up of nerve cells and nerve fibers A tumor made up of nerve cells and nerve fibers NOT_TRANSLATED -en nl HP:0030431 rdfs:label Osteochondroma Osteochondroom CANDIDATE -en nl HP:0030431 IAO:0000115 A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone NOT_TRANSLATED -en nl HP:0030432 rdfs:label Chondroblastoma Chondroblastoom CANDIDATE -en nl HP:0030432 IAO:0000115 A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells NOT_TRANSLATED -en nl HP:0030433 rdfs:label Osteoid osteoma Osteoïd osteoom CANDIDATE -en nl HP:0030433 IAO:0000115 A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone NOT_TRANSLATED -en nl HP:0030434 rdfs:label Pilomatrixoma Pilomatrixoom CANDIDATE -en nl HP:0030434 IAO:0000115 Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm NOT_TRANSLATED -en nl HP:0030436 rdfs:label Fibrofolliculoma Fibrofolliculoom CANDIDATE -en nl HP:0030436 IAO:0000115 Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation NOT_TRANSLATED -en nl HP:0030437 rdfs:label Anal canal neoplasm Neoplasma van het anale kanaal CANDIDATE -en nl HP:0030438 rdfs:label Anal canal squamous cell carcinoma Plaveiselcelcarcinoom van anale kanaal CANDIDATE -en nl HP:0030438 IAO:0000115 A squamous cell carcinoma that originates in the anal canal A squamous cell carcinoma that originates in the anal canal NOT_TRANSLATED -en nl HP:0030439 rdfs:label Anal canal adenocarcinoma Adenocarcinoom van anale kanaal CANDIDATE -en nl HP:0030439 IAO:0000115 An adenoma carcinoma that originates in the anal canal An adenoma carcinoma that originates in the anal canal NOT_TRANSLATED -en nl HP:0030440 rdfs:label Anal margin neoplasm Anale marge neoplasma CANDIDATE -en nl HP:0030440 IAO:0000115 A tumor of the anal margin A tumor of the anal margin NOT_TRANSLATED -en nl HP:0030441 rdfs:label Anal margin Paget's disease Ziekte van Paget in anale marge CANDIDATE -en nl HP:0030441 IAO:0000115 An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells NOT_TRANSLATED -en nl HP:0030442 rdfs:label Anal margin squamous cell carcinoma Anale marge plaveiselcelcarcinoom CANDIDATE -en nl HP:0030442 IAO:0000115 A squamous cell carcinoma that originates in the skin of the anal margin A squamous cell carcinoma that originates in the skin of the anal margin NOT_TRANSLATED -en nl HP:0030443 rdfs:label Anal margin basal cell carcinoma Anale marge basaalcelcarcinoom CANDIDATE -en nl HP:0030443 IAO:0000115 A basal cell carcinoma that originates in the anal margin A basal cell carcinoma that originates in the anal margin NOT_TRANSLATED -en nl HP:0030444 rdfs:label Anal margin melanoma Anale marge melanoom CANDIDATE -en nl HP:0030444 IAO:0000115 A melanoma that originates in the anal margin A melanoma that originates in the anal margin NOT_TRANSLATED -en nl HP:0030445 rdfs:label Pulmonary carcinoid tumor Pulmonaal carcinoïd CANDIDATE -en nl HP:0030445 IAO:0000115 A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma NOT_TRANSLATED -en nl HP:0030446 rdfs:label Atypical pulmonary carcinoid tumor Atypisch pulmonaal carcinoïd CANDIDATE -en nl HP:0030447 rdfs:label Merkel cell skin cancer Merkelcel kanker CANDIDATE -en nl HP:0030447 IAO:0000115 A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features NOT_TRANSLATED -en nl HP:0030448 rdfs:label Soft tissue sarcoma Sarcoom van weke delen CANDIDATE -en nl HP:0030448 IAO:0000115 A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues NOT_TRANSLATED -en nl HP:0030449 rdfs:label Therapeutic abortion Therapeutische abortus CANDIDATE -en nl HP:0030449 IAO:0000115 Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice NOT_TRANSLATED -en nl HP:0030450 rdfs:label Neoplasm of the autonomic nervous system Neuroplasma van autonome zenuwstelsel CANDIDATE -en nl HP:0030450 IAO:0000115 A tumor that arises from an element of the autonomic nervous system A tumor that arises from an element of the autonomic nervous system NOT_TRANSLATED -en nl HP:0030451 rdfs:label Mesenteric cyst Mesenteriale cyste CANDIDATE -en nl HP:0030451 IAO:0000115 A closed fluid filled sac originating from the mesentary A closed fluid filled sac originating from the mesentary NOT_TRANSLATED -en nl HP:0030452 rdfs:label Chylolymphatic mesenteric cyst Chylolymfatische mesenteriale cyste CANDIDATE -en nl HP:0030452 IAO:0000115 A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid NOT_TRANSLATED -en nl HP:0030453 rdfs:label Abnormal visual electrophysiology Afwijkende visuele electrofysiologie CANDIDATE -en nl HP:0030454 rdfs:label Abnormal electrooculogram Afwijkend electro-oculogram CANDIDATE -en nl HP:0030454 IAO:0000115 The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation NOT_TRANSLATED -en nl HP:0030455 rdfs:label Abnormality of pattern visual evoked potentials Abnormality of pattern visual evoked potentials NOT_TRANSLATED -en nl HP:0030456 rdfs:label Abnormality of pattern onset/offset visual evoked potentials Abnormality of pattern onset/offset visual evoked potentials NOT_TRANSLATED -en nl HP:0030457 rdfs:label Abnormal amplitude of pattern onset/offset visual evoked potentials Abnormal amplitude of pattern onset/offset visual evoked potentials NOT_TRANSLATED -en nl HP:0030458 rdfs:label Abnormal timing of pattern onset/offset visual evoked potentials Abnormal timing of pattern onset/offset visual evoked potentials NOT_TRANSLATED -en nl HP:0030460 rdfs:label Abnormal timing of pattern reversal visual evoked potentials Abnormal timing of pattern reversal visual evoked potentials NOT_TRANSLATED -en nl HP:0030461 rdfs:label Abnormal timing of flash visual evoked potentials Abnormal timing of flash visual evoked potentials NOT_TRANSLATED -en nl HP:0030462 rdfs:label Abnormal amplitude of flash visual evoked potentials Abnormal amplitude of flash visual evoked potentials NOT_TRANSLATED -en nl HP:0030463 rdfs:label Asymmetrical distribution of flash visual evoked potentials Asymmetrical distribution of flash visual evoked potentials NOT_TRANSLATED -en nl HP:0030464 rdfs:label Asymmetrical distribution of pattern reversal visual evoked potentials Asymmetrical distribution of pattern reversal visual evoked potentials NOT_TRANSLATED -en nl HP:0030465 rdfs:label Undetectable light-adapted electroretinogram Undetectable light-adapted electroretinogram NOT_TRANSLATED -en nl HP:0030465 IAO:0000115 No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells NOT_TRANSLATED -en nl HP:0030466 rdfs:label Abnormal full-field electroretinogram Abnormal full-field electroretinogram NOT_TRANSLATED -en nl HP:0030467 rdfs:label Abnormal pattern electroretinogram Abnormal pattern electroretinogram NOT_TRANSLATED -en nl HP:0030467 IAO:0000115 An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light NOT_TRANSLATED -en nl HP:0030468 rdfs:label Abnormal multifocal electroretinogram Abnormal multifocal electroretinogram NOT_TRANSLATED -en nl HP:0030469 rdfs:label Abnormal dark-adapted electroretinogram Abnormal dark-adapted electroretinogram NOT_TRANSLATED -en nl HP:0030470 rdfs:label Abnormal dark-adapted bright flash electroretinogram Abnormal dark-adapted bright flash electroretinogram NOT_TRANSLATED -en nl HP:0030471 rdfs:label Abnormal dark-adapted dim flash electroretinogram Abnormal dark-adapted dim flash electroretinogram NOT_TRANSLATED -en nl HP:0030472 rdfs:label Abnormal light-adapted single flash electroretinogram Abnormal light-adapted single flash electroretinogram NOT_TRANSLATED -en nl HP:0030473 rdfs:label Abnormal light-adapted flicker electroretinogram Abnormal light-adapted flicker electroretinogram NOT_TRANSLATED -en nl HP:0030474 rdfs:label Undetectable dark-adapted electroretinogram Undetectable dark-adapted electroretinogram NOT_TRANSLATED -en nl HP:0030475 rdfs:label Abnormal timing of dark-adapted dim flash electroretinogram Abnormal timing of dark-adapted dim flash electroretinogram NOT_TRANSLATED -en nl HP:0030476 rdfs:label Abnormal amplitude of dark-adapted dim flash electroretinogram Abnormal amplitude of dark-adapted dim flash electroretinogram NOT_TRANSLATED -en nl HP:0030477 rdfs:label Abnormal timing of dark-adapted bright flash electroretinogram Abnormal timing of dark-adapted bright flash electroretinogram NOT_TRANSLATED -en nl HP:0030478 rdfs:label Abnormal amplitude of dark-adapted bright flash electroretinogram Abnormal amplitude of dark-adapted bright flash electroretinogram NOT_TRANSLATED -en nl HP:0030479 rdfs:label Abnormal amplitude of light-adapted flicker electroretinogram Abnormal amplitude of light-adapted flicker electroretinogram NOT_TRANSLATED -en nl HP:0030480 rdfs:label Abnormal timing of light-adapted flicker electroretinogram Abnormal timing of light-adapted flicker electroretinogram NOT_TRANSLATED -en nl HP:0030481 rdfs:label Abnormal amplitude of light-adapted single flash electroretinogram Abnormal amplitude of light-adapted single flash electroretinogram NOT_TRANSLATED -en nl HP:0030482 rdfs:label Abnormal timing of light-adapted single flash electroretinogram Abnormal timing of light-adapted single flash electroretinogram NOT_TRANSLATED -en nl HP:0030483 rdfs:label Reduced amplitude of dark-adapted bright flash electroretinogram a-wave Reduced amplitude of dark-adapted bright flash electroretinogram a-wave NOT_TRANSLATED -en nl HP:0030483 IAO:0000115 An abnormal reduction in the amplitude of the a-wave An abnormal reduction in the amplitude of the a-wave NOT_TRANSLATED -en nl HP:0030484 rdfs:label Supernormal dark-adapted bright flash electroretinogram b-wave Supernormal dark-adapted bright flash electroretinogram b-wave NOT_TRANSLATED -en nl HP:0030485 rdfs:label Abnormal amplitude of pattern electroretinogram Abnormal amplitude of pattern electroretinogram NOT_TRANSLATED -en nl HP:0030486 rdfs:label Abnormal timing of pattern electroretinogram Abnormal timing of pattern electroretinogram NOT_TRANSLATED -en nl HP:0030487 rdfs:label Abnormal P50/N95 ratio of pattern electroretinogram Abnormal P50/N95 ratio of pattern electroretinogram NOT_TRANSLATED -en nl HP:0030488 rdfs:label Abnormal central response of multifocal electroretinogram Afwijkende centrale respons op multifocaal elektroretinogram CANDIDATE -en nl HP:0030489 rdfs:label Abnormal paracentral response of multifocal electroretinogram Afwijkende paracentrale respons op multifocaal elektroretinogram CANDIDATE -en nl HP:0030490 rdfs:label Exudative vitreoretinopathy Exsudatieve vitreoretinopathie CANDIDATE -en nl HP:0030491 rdfs:label Choriocapillaris atrophy Choriocapillaris atrofie CANDIDATE -en nl HP:0030491 IAO:0000115 Atrophy of the capillary lamina of choroid Atrophy of the capillary lamina of choroid NOT_TRANSLATED -en nl HP:0030493 rdfs:label Abnormality of foveal pigmentation Afwijkende foveale pigmentatie CANDIDATE -en nl HP:0030493 IAO:0000115 An anomaly of the pigmentation in the fovea centralis An anomaly of the pigmentation in the fovea centralis NOT_TRANSLATED -en nl HP:0030494 rdfs:label Macular microaneurysm/hemorrhage Macula microaneurysma/bloeding CANDIDATE -en nl HP:0030494 IAO:0000115 Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms) Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms) NOT_TRANSLATED -en nl HP:0030495 rdfs:label Abnormality morphology of the macular vasculature Afwijking van macula vasculatuur CANDIDATE -en nl HP:0030495 IAO:0000115 Any structural anomaly of the blood vessels of the macula Any structural anomaly of the blood vessels of the macula NOT_TRANSLATED -en nl HP:0030496 rdfs:label Macular exudate Macula exsudaat CANDIDATE -en nl HP:0030496 IAO:0000115 Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature NOT_TRANSLATED -en nl HP:0030497 rdfs:label Macular cotton wool spot Macular cotton wool spot NOT_TRANSLATED -en nl HP:0030497 IAO:0000115 Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED -en nl HP:0030498 rdfs:label Macular thickening Macula verdikking CANDIDATE -en nl HP:0030498 IAO:0000115 Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging NOT_TRANSLATED -en nl HP:0030499 rdfs:label Macular drusen Macula drusen CANDIDATE -en nl HP:0030499 IAO:0000115 Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula NOT_TRANSLATED -en nl HP:0030500 rdfs:label Yellow/white lesions of the macula Gele/witte laesies van de macula CANDIDATE -en nl HP:0030501 rdfs:label Macular crystals Macula kristallen CANDIDATE -en nl HP:0030501 IAO:0000115 Crystalline deposits in the macula Crystalline deposits in the macula NOT_TRANSLATED -en nl HP:0030502 rdfs:label Retinoschisis Retinoschisis CANDIDATE -en nl HP:0030502 IAO:0000115 Splitting of the neuroretinal layers of the retina Splitting of the neuroretinal layers of the retina NOT_TRANSLATED -en nl HP:0030503 rdfs:label Macular telangiectasia Macula teleangiëctasieën CANDIDATE -en nl HP:0030504 rdfs:label Grouped congenital hypertrophy of retinal pigment epithelium Gegroepeerde congenitale hypertrofie van retina pigment epitheel CANDIDATE -en nl HP:0030505 rdfs:label Nummular pigmentation of the fundus Nummulaire pigmentatie van de retina CANDIDATE -en nl HP:0030505 IAO:0000115 Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0030506 rdfs:label Yellow/white lesions of the retina Gele/witte laesies van de retina CANDIDATE -en nl HP:0030507 rdfs:label Retinal crystals Retinale kristallen CANDIDATE -en nl HP:0030507 IAO:0000115 Crystalline deposits in the retina Crystalline deposits in the retina NOT_TRANSLATED -en nl HP:0030508 rdfs:label Retinal cavernous hemangioma Retinaal caverneus hemangioom CANDIDATE -en nl HP:0030509 rdfs:label Retinal racemose hemangioma Retinaal racemose hemangioom CANDIDATE -en nl HP:0030510 rdfs:label Combined hamartoma of the retinal pigment epithelium and retina Gecombineerd hamartoom van retina pigment epitheel en retina CANDIDATE -en nl HP:0030511 rdfs:label Bradyopsia Bradyopsie CANDIDATE -en nl HP:0030511 IAO:0000115 Difficulty in seeing moving objects Difficulty in seeing moving objects NOT_TRANSLATED -en nl HP:0030512 rdfs:label Difficulty adjusting to changes in luminance Moeite met aanpassen aan veranderingen in luminantie CANDIDATE -en nl HP:0030513 rdfs:label Difficulty adjusting from light to dark Moeite met aanpassen van licht naar donker CANDIDATE -en nl HP:0030514 rdfs:label Difficulty adjusting from dark to light Moeite met aanpassen van donker naar licht CANDIDATE -en nl HP:0030515 rdfs:label Moderately reduced visual acuity Matige visuele beperking CANDIDATE -en nl HP:0030515 IAO:0000115 Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) NOT_TRANSLATED -en nl HP:0030516 rdfs:label Homonymous hemianopia Homonieme hemianopsie CANDIDATE -en nl HP:0030517 rdfs:label Heteronymous hemianopia Heteronieme hemianopsie CANDIDATE -en nl HP:0030518 rdfs:label Congruous homonymous hemianopia Congruente homonieme hemianopsie CANDIDATE -en nl HP:0030519 rdfs:label Congruous heteronymous hemianopia Congruente heteronieme hemianopsie CANDIDATE -en nl HP:0030520 rdfs:label Binasal hemianopia Binasale hemianopsie CANDIDATE -en nl HP:0030521 rdfs:label Bitemporal hemianopia Bitemporale hemianopsie CANDIDATE -en nl HP:0030522 rdfs:label Mild constriction of peripheral visual field Perifere gezichtsveld beperking met 50 graden centraal gespaard CANDIDATE -en nl HP:0030522 IAO:0000115 A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians NOT_TRANSLATED -en nl HP:0030525 rdfs:label Moderate constriction of peripheral visual field Perifere gezichtsveld beperking met 20-30 graden centraal gespaard CANDIDATE -en nl HP:0030525 IAO:0000115 Peripheral visual field constriction with 20-49 degrees binocular visual field preserved Peripheral visual field constriction with 20-49 degrees binocular visual field preserved NOT_TRANSLATED -en nl HP:0030526 rdfs:label Severe constriction of peripheral visual field Perifere gezichtsveld beperking met 10-20 graden centraal gespaard CANDIDATE -en nl HP:0030526 IAO:0000115 Peripheral visual field constriction with 10-19 degrees central field preserved Peripheral visual field constriction with 10-19 degrees central field preserved NOT_TRANSLATED -en nl HP:0030527 rdfs:label Very severe constriction of peripheral visual field Perifere gezichtsveld beperking met 10 graden centraal gespaard CANDIDATE -en nl HP:0030527 IAO:0000115 Peripheral visual field constriction with <10 degrees central field preserved Peripheral visual field constriction with <10 degrees central field preserved NOT_TRANSLATED -en nl HP:0030528 rdfs:label Paracentral scotoma Paracentraal scotoom CANDIDATE -en nl HP:0030529 rdfs:label Ring scotoma Ringscotoom CANDIDATE -en nl HP:0030530 rdfs:label Arcuate scotoma Arcuate scotoom CANDIDATE -en nl HP:0030531 rdfs:label Altitudinal visual field defect Altitudinal visual field defect NOT_TRANSLATED -en nl HP:0030532 rdfs:label Visual acuity test abnormality Visustest afwijking CANDIDATE -en nl HP:0030533 rdfs:label Abnormal unaided visual acuity test Afwijkende visustest zonder hulp CANDIDATE -en nl HP:0030534 rdfs:label Abnormal best corrected visual acuity test Afwijkende best-gecorrigeerde visustest CANDIDATE -en nl HP:0030535 rdfs:label Abnormal pinhole visual acuity test Afwijkende visustest met stenopeïsche opening CANDIDATE -en nl HP:0030536 rdfs:label Unaided visual acuity 0.1 LogMAR Visus zonder hulp 0.1 LogMAR CANDIDATE -en nl HP:0030537 rdfs:label Unaided visual acuity 0.2 LogMAR Visus zonder hulp 0.2 LogMAR CANDIDATE -en nl HP:0030538 rdfs:label Unaided visual acuity 0.3 LogMAR Visus zonder hulp 0.3 LogMAR CANDIDATE -en nl HP:0030539 rdfs:label Unaided visual acuity 0.4 LogMAR Visus zonder hulp 0.4 LogMAR CANDIDATE -en nl HP:0030540 rdfs:label Unaided visual acuity 0.5 LogMAR Visus zonder hulp 0.5 LogMAR CANDIDATE -en nl HP:0030541 rdfs:label Unaided visual acuity 0.6 LogMAR Visus zonder hulp 0.6 LogMAR CANDIDATE -en nl HP:0030542 rdfs:label Unaided visual acuity 0.7 LogMAR Visus zonder hulp 0.7 LogMAR CANDIDATE -en nl HP:0030543 rdfs:label Unaided visual acuity 0.8 LogMAR Visus zonder hulp 0.8 LogMAR CANDIDATE -en nl HP:0030544 rdfs:label Unaided visual acuity 0.9 LogMAR Visus zonder hulp 0.9 LogMAR CANDIDATE -en nl HP:0030545 rdfs:label Unaided visual acuity 1.0 LogMAR Visus zonder hulp 1.0 LogMAR CANDIDATE -en nl HP:0030546 rdfs:label Unaided visual acuity 1.1 LogMAR Visus zonder hulp 1.1 LogMAR CANDIDATE -en nl HP:0030547 rdfs:label Unaided visual acuity 1.2 LogMAR Visus zonder hulp 1.2 LogMAR CANDIDATE -en nl HP:0030548 rdfs:label Unaided visual acuity 1.3 LogMAR Visus zonder hulp 1.3 LogMAR CANDIDATE -en nl HP:0030549 rdfs:label Unaided visual acuity 2.0 LogMAR Visus zonder hulp 2.0 LogMAR CANDIDATE -en nl HP:0030550 rdfs:label Unaided visual acuity 3.0 LogMAR Visus zonder hulp 3.0 LogMAR CANDIDATE -en nl HP:0030551 rdfs:label Visual acuity light perception with projection Visual acuity light perception with projection NOT_TRANSLATED -en nl HP:0030552 rdfs:label Visual acuity light perception without projection Visual acuity light perception without projection NOT_TRANSLATED -en nl HP:0030553 rdfs:label Visual acuity no light perception Visual acuity no light perception NOT_TRANSLATED -en nl HP:0030554 rdfs:label Best corrected visual acuity 0.1 LogMAR Best-gecorrigeerde visus 0.1 LogMAR CANDIDATE -en nl HP:0030555 rdfs:label Best corrected visual acuity 0.2 LogMAR Best-gecorrigeerde visus 0.2 LogMAR CANDIDATE -en nl HP:0030556 rdfs:label Best corrected visual acuity 0.3 LogMAR Best-gecorrigeerde visus 0.3 LogMAR CANDIDATE -en nl HP:0030557 rdfs:label Best corrected visual acuity 0.4 LogMAR Best-gecorrigeerde visus 0.4 LogMAR CANDIDATE -en nl HP:0030558 rdfs:label Best corrected visual acuity 0.5 LogMAR Best-gecorrigeerde visus 0.5 LogMAR CANDIDATE -en nl HP:0030559 rdfs:label Best corrected visual acuity 0.7 LogMAR Best-gecorrigeerde visus 0.7 LogMAR CANDIDATE -en nl HP:0030560 rdfs:label Best corrected visual acuity 0.6 LogMAR Best-gecorrigeerde visus 0.6 LogMAR CANDIDATE -en nl HP:0030561 rdfs:label Best corrected visual acuity 0.8 LogMAR Best-gecorrigeerde visus 0.8 LogMAR CANDIDATE -en nl HP:0030562 rdfs:label Best corrected visual acuity 0.9 LogMAR Best-gecorrigeerde visus 0.9 LogMAR CANDIDATE -en nl HP:0030563 rdfs:label Best corrected visual acuity 1.0 LogMAR Best-gecorrigeerde visus 1.0 LogMAR CANDIDATE -en nl HP:0030564 rdfs:label Best corrected visual acuity 1.1 LogMAR Best-gecorrigeerde visus 1.1 LogMAR CANDIDATE -en nl HP:0030565 rdfs:label Best corrected visual acuity 1.2 LogMAR Best-gecorrigeerde visus 1.2 LogMAR CANDIDATE -en nl HP:0030566 rdfs:label Best corrected visual acuity 1.3 LogMAR Best-gecorrigeerde visus 1.3 LogMAR CANDIDATE -en nl HP:0030567 rdfs:label Best corrected visual acuity 2.0 LogMAR Best-gecorrigeerde visus 2.0 LogMAR CANDIDATE -en nl HP:0030568 rdfs:label Best corrected visual acuity 3.0 LogMAR Best-gecorrigeerde visus 3.0 LogMAR CANDIDATE -en nl HP:0030569 rdfs:label Pinhole visual acuity 0.1 LogMAR Stenopeïsche opening visus 0.1 LogMAR CANDIDATE -en nl HP:0030570 rdfs:label Pinhole visual acuity 0.2 LogMAR Stenopeïsche opening visus 0.2 LogMAR CANDIDATE -en nl HP:0030571 rdfs:label Pinhole visual acuity 0.3 LogMAR Stenopeïsche opening visus 0.3 LogMAR CANDIDATE -en nl HP:0030572 rdfs:label Pinhole visual acuity 0.4 LogMAR Stenopeïsche opening visus 0.4 LogMAR CANDIDATE -en nl HP:0030573 rdfs:label Pinhole visual acuity 0.5 LogMAR Stenopeïsche opening visus 0.5 LogMAR CANDIDATE -en nl HP:0030574 rdfs:label Pinhole visual acuity 0.6 LogMAR Stenopeïsche opening visus 0.6 LogMAR CANDIDATE -en nl HP:0030575 rdfs:label Pinhole visual acuity 0.7 LogMAR Stenopeïsche opening visus 0.7 LogMAR CANDIDATE -en nl HP:0030576 rdfs:label Pinhole visual acuity 0.8 LogMAR Stenopeïsche opening visus 0.8 LogMAR CANDIDATE -en nl HP:0030577 rdfs:label Pinhole visual acuity 0.9 LogMAR Stenopeïsche opening visus 0.9 LogMAR CANDIDATE -en nl HP:0030578 rdfs:label Pinhole visual acuity 1.0 LogMAR Stenopeïsche opening visus 1.0 LogMAR CANDIDATE -en nl HP:0030579 rdfs:label Pinhole visual acuity 1.1 LogMAR Stenopeïsche opening visus 1.1 LogMAR CANDIDATE -en nl HP:0030580 rdfs:label Pinhole visual acuity 1.2 LogMAR Stenopeïsche opening visus 1.2 LogMAR CANDIDATE -en nl HP:0030581 rdfs:label Pinhole visual acuity 1.3 LogMAR Stenopeïsche opening visus 1.3 LogMAR CANDIDATE -en nl HP:0030582 rdfs:label Pinhole visual acuity 2.0 LogMAR Stenopeïsche opening visus 2.0 LogMAR CANDIDATE -en nl HP:0030583 rdfs:label Pinhole visual acuity 3.0 LogMAR Stenopeïsche opening visus 3.0 LogMAR CANDIDATE -en nl HP:0030584 rdfs:label Color vision test abnormality Kleurenzien test afwijking CANDIDATE -en nl HP:0030585 rdfs:label Red desaturation Rood desaturatie CANDIDATE -en nl HP:0030586 rdfs:label Abnormal Ishihara plate test Afwijkende Ishiharatest CANDIDATE -en nl HP:0030587 rdfs:label Abnormal Hardy-Rand-Rittler plate test Afwijkende Hardy-Rand-Rittler test CANDIDATE -en nl HP:0030588 rdfs:label Abnormal visual field test Afwijkend gezichtsveldsonderzoek CANDIDATE -en nl HP:0030588 IAO:0000115 Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field NOT_TRANSLATED -en nl HP:0030589 rdfs:label Abnormal confrontational visual field test Afwijkend confronterend gezichtsveldonderzoek CANDIDATE -en nl HP:0030590 rdfs:label Abnormal Amsler grid test Afwijkend Amslertest CANDIDATE -en nl HP:0030591 rdfs:label Abnormal kinetic perimetry test Afwijkende kinetische perimetrie test CANDIDATE -en nl HP:0030592 rdfs:label Abnormal static perimetry test Afwijkende statische perimetrie test CANDIDATE -en nl HP:0030593 rdfs:label Abnormal manual kinetic perimetry test Afwijkende manuele kinetische perimetrie test CANDIDATE -en nl HP:0030594 rdfs:label Abnormal automated kinetic perimetry test Afwijkende geautomatiseerde kinetische perimetrie test CANDIDATE -en nl HP:0030595 rdfs:label Abnormal static automated perimetry test Afwijkende statische geautomatiseerde perimetrie test CANDIDATE -en nl HP:0030596 rdfs:label Abnormal Humphrey SITA 30-2 perimetry test Afwijkende Humphrey SITA 30-2 perimetrie test CANDIDATE -en nl HP:0030597 rdfs:label Abnormal Humphrey SITA 24-2 perimetry test Afwijkende Humphrey SITA 24-2 perimetrie test CANDIDATE -en nl HP:0030598 rdfs:label Abnormal Humphrey SITA 10-2 perimetry test Afwijkende Humphrey SITA 10-2 perimetrie test CANDIDATE -en nl HP:0030599 rdfs:label Abnormal Esterman grid perimetry test Afwijkende Estermann perimetrie test CANDIDATE -en nl HP:0030599 IAO:0000115 The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent NOT_TRANSLATED -en nl HP:0030601 rdfs:label Abnormal posterior segment imaging Afwijkende posterieur segment beeldvorming CANDIDATE -en nl HP:0030602 rdfs:label Abnormal fundus autofluorescence imaging Abnormal fundus autofluorescence imaging NOT_TRANSLATED -en nl HP:0030602 IAO:0000115 Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference NOT_TRANSLATED -en nl HP:0030603 rdfs:label Abnormal optical coherence tomography Afwijkende optische coherentietomografie CANDIDATE -en nl HP:0030604 rdfs:label Abnormal fundus fluorescein angiography Afwijkende fundus fluoresceïne-angiografie CANDIDATE -en nl HP:0030604 IAO:0000115 An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation NOT_TRANSLATED -en nl HP:0030605 rdfs:label Abnormal indocyanine green angiography Afwijkende indocyanine groen angiografie CANDIDATE -en nl HP:0030606 rdfs:label Abnormal OCT-measured macular thickness Afwijkende macula dikte gemeten met OCT CANDIDATE -en nl HP:0030607 rdfs:label Reduced OCT-measured macular thickness Verminderde macula dikte gemeten met OCT CANDIDATE -en nl HP:0030608 rdfs:label Increased OCT-measured macular thickness Verhoogde macula dikte gemeten met OCT CANDIDATE -en nl HP:0030609 rdfs:label Photoreceptor layer loss on macular OCT Fotoreceptor-laag verlies op macula OCT CANDIDATE -en nl HP:0030609 IAO:0000115 Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography NOT_TRANSLATED -en nl HP:0030610 rdfs:label Photoreceptor outer segment loss on macular OCT Fotoreceptor buitenste-segment-verlies op macula OCT CANDIDATE -en nl HP:0030611 rdfs:label Retinal pigment epithelial loss on macular OCT Retina pigment epitheel verlies op macula OCT CANDIDATE -en nl HP:0030612 rdfs:label Abnormal retinal morphology on macular OCT Afwijkende retinale morfologie op macula OCT CANDIDATE -en nl HP:0030613 rdfs:label Abnormal foveal morphology on macular OCT Afwijkende foveale morfologie op macula OCT CANDIDATE -en nl HP:0030614 rdfs:label Foveal photoreceptor layer loss on macular OCT Foveale fotoreceptor laag verlies op macula OCT CANDIDATE -en nl HP:0030615 rdfs:label Foveal photoreceptor outer segment loss on macular OCT Foveale fotoreceptor buitenste-segment-verlies op macula OCT CANDIDATE -en nl HP:0030616 rdfs:label Foveal retinal pigment epithelial loss on macular OCT Foveaal retina pigment epitheel verlies op macula OCT CANDIDATE -en nl HP:0030617 rdfs:label Abnormal OCT-measured foveal thickness Afwijkende fovea dikte gemeten met OCT CANDIDATE -en nl HP:0030618 rdfs:label Increased OCT-measured foveal thickness Verhoogde foveale dikte gemeten met OCT CANDIDATE -en nl HP:0030619 rdfs:label Reduced OCT-measured foveal thickness Verminderde foveale dikte gemeten met OCT CANDIDATE -en nl HP:0030620 rdfs:label Inner retinal layer loss on macular OCT Inner retinal laag verlies op macula OCT CANDIDATE -en nl HP:0030621 rdfs:label Foveal inner retinal layer loss on macular OCT Foveale inner retinal laag verlies op macula OCT CANDIDATE -en nl HP:0030622 rdfs:label Abnormal foveal pit on macular OCT Afwijkende foveale pit op macula OCT CANDIDATE -en nl HP:0030623 rdfs:label Intraretinal hyporeflective spaces on macular OCT Intraretinale hyporeflectieve ruimtes op macula OCT CANDIDATE -en nl HP:0030624 rdfs:label Subretinal hyporeflective spaces on macular OCT Subretinale hyporeflectieve ruimtes op macula OCT CANDIDATE -en nl HP:0030625 rdfs:label Hyporeflective spaces on macular OCT Hyporeflective ruimtes op macula OCT CANDIDATE -en nl HP:0030626 rdfs:label Foveal intraretinal hyporeflective spaces on macular OCT Foveale intraretinale hyporeflectieve ruimtes op macula OCT CANDIDATE -en nl HP:0030627 rdfs:label Foveal hyporeflective spaces on macular OCT Foveale hyporeflectieve ruimtes op macula OCT CANDIDATE -en nl HP:0030628 rdfs:label Foveal subretinal hyporeflective spaces on macular OCT Foveale subretinale hyporeflectieve ruimtes op macula OCT CANDIDATE -en nl HP:0030629 rdfs:label Perifoveal ring of hyperautofluorescence Perifoveale ring van hyperautofluorescentie CANDIDATE -en nl HP:0030630 rdfs:label Irregular central macular autofluorescence Irregulaire centrale macula autofluorescentie CANDIDATE -en nl HP:0030631 rdfs:label Hyperautofluorescent macular lesion Hyperautofluorescente macula laesies CANDIDATE -en nl HP:0030631 IAO:0000115 Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging NOT_TRANSLATED -en nl HP:0030632 rdfs:label Hypoautofluorescent macular lesion Hypoautofluorescent macular lesion NOT_TRANSLATED -en nl HP:0030632 IAO:0000115 Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging NOT_TRANSLATED -en nl HP:0030633 rdfs:label Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence NOT_TRANSLATED -en nl HP:0030634 rdfs:label Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence NOT_TRANSLATED -en nl HP:0030635 rdfs:label Retinal dystrophy with early macular involvement Retinale dystrofie met vroege macula betrokkenheid CANDIDATE -en nl HP:0030636 rdfs:label Occult macular dystrophy Occulte macula dystrofie CANDIDATE -en nl HP:0030636 IAO:0000115 Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities NOT_TRANSLATED -en nl HP:0030637 rdfs:label Congenital stationary cone dysfunction Congenital stationary cone dysfunction NOT_TRANSLATED -en nl HP:0030637 IAO:0000115 Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia NOT_TRANSLATED -en nl HP:0030638 rdfs:label Congenital stationary night blindness with normal fundus Congenital stationary night blindness with normal fundus NOT_TRANSLATED -en nl HP:0030639 rdfs:label Congenital stationary night blindness with abnormal fundus Congenital stationary night blindness with abnormal fundus NOT_TRANSLATED -en nl HP:0030640 rdfs:label Complete congenital stationary night blindness Complete congenital stationary night blindness NOT_TRANSLATED -en nl HP:0030641 rdfs:label Incomplete congenital stationary night blindness Incomplete congenital stationary night blindness NOT_TRANSLATED -en nl HP:0030642 rdfs:label Fundus albipunctatus Fundus albipunctatus CANDIDATE -en nl HP:0030643 rdfs:label Vitelliform-like retinal lesions Vitelliform-achtige retinale laesies CANDIDATE -en nl HP:0030644 rdfs:label Blind-spot enlargment Blinde vlek vergroting CANDIDATE -en nl HP:0030645 rdfs:label Central Centraal CANDIDATE -en nl HP:0030645 IAO:0000115 Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure NOT_TRANSLATED -en nl HP:0030646 rdfs:label Peripheral Perifeer CANDIDATE -en nl HP:0030647 rdfs:label Paracentral Paracentraal CANDIDATE -en nl HP:0030648 rdfs:label Midperipheral Midperifeer CANDIDATE -en nl HP:0030649 rdfs:label Pericentral Pericentraal CANDIDATE -en nl HP:0030650 rdfs:label Focal Focaal CANDIDATE -en nl HP:0030651 rdfs:label Multifocal Multifocaal CANDIDATE -en nl HP:0030652 rdfs:label Vitreous haze Glasvocht waas CANDIDATE -en nl HP:0030652 IAO:0000115 Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation NOT_TRANSLATED -en nl HP:0030654 rdfs:label Umbilical cord cyst Navelstreng cyste CANDIDATE -en nl HP:0030654 IAO:0000115 Any cystic lesion associated with the umbilical cord Any cystic lesion associated with the umbilical cord NOT_TRANSLATED -en nl HP:0030655 rdfs:label Umbilical cord knot Navelstreng knoop CANDIDATE -en nl HP:0030655 IAO:0000115 An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord NOT_TRANSLATED -en nl HP:0030656 rdfs:label Umbilical vein varix Varix van vena umbilicalis CANDIDATE -en nl HP:0030656 IAO:0000115 Focal dilation of the umbilical vein Focal dilation of the umbilical vein NOT_TRANSLATED -en nl HP:0030657 rdfs:label Umbilical cord hematoma Navelstreng hematoom CANDIDATE -en nl HP:0030657 IAO:0000115 Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels NOT_TRANSLATED -en nl HP:0030658 rdfs:label Marginal umbilical cord insertion Marginale navelstreng insertie CANDIDATE -en nl HP:0030658 IAO:0000115 Insertion of the umbilical cord within 2 cm from the placental edge Insertion of the umbilical cord within 2 cm from the placental edge NOT_TRANSLATED -en nl HP:0030659 rdfs:label Velamentous cord insertion Velamenteuze navelstreng insertie CANDIDATE -en nl HP:0030659 IAO:0000115 Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta NOT_TRANSLATED -en nl HP:0030660 rdfs:label Furcate cord insertion Gevorkte navelstreng insertie CANDIDATE -en nl HP:0030660 IAO:0000115 Branching of the umbilical cord before its insertion into the placenta Branching of the umbilical cord before its insertion into the placenta NOT_TRANSLATED -en nl HP:0030661 rdfs:label Vitreous snowballs Vitreous snowballs NOT_TRANSLATED -en nl HP:0030661 IAO:0000115 Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery NOT_TRANSLATED -en nl HP:0030662 rdfs:label Vitreous inflammatory cells Glasvocht ontstekingscellen CANDIDATE -en nl HP:0030662 IAO:0000115 The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous NOT_TRANSLATED -en nl HP:0030663 rdfs:label Optically empty vitreous Optically empty vitreous NOT_TRANSLATED -en nl HP:0030663 IAO:0000115 Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity NOT_TRANSLATED -en nl HP:0030664 rdfs:label Beevor's sign Beevor's sign NOT_TRANSLATED -en nl HP:0030664 IAO:0000115 Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus NOT_TRANSLATED -en nl HP:0030665 rdfs:label Rubral tremor Rubral tremor NOT_TRANSLATED -en nl HP:0030665 IAO:0000115 Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements NOT_TRANSLATED -en nl HP:0030666 rdfs:label Retinal neovascularization Retinale neovascularisatie CANDIDATE -en nl HP:0030666 IAO:0000115 In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment NOT_TRANSLATED -en nl HP:0030667 rdfs:label Peripheral retinal neovascularization Perifere retinale neovascularisatie CANDIDATE -en nl HP:0030667 IAO:0000115 A type of retinal neovascularization that affects the periphery of the retina A type of retinal neovascularization that affects the periphery of the retina NOT_TRANSLATED -en nl HP:0030668 rdfs:label Periorbital dermoid cyst Periorbitale dermoïd cyste CANDIDATE -en nl HP:0030668 IAO:0000115 A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts NOT_TRANSLATED -en nl HP:0030669 rdfs:label Abnormal ocular adnexa morphology Abnormal ocular adnexa morphology NOT_TRANSLATED -en nl HP:0030669 IAO:0000115 A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva NOT_TRANSLATED -en nl HP:0030670 rdfs:label Hamartoma of the orbital region Hamartoom van de orbitale regio CANDIDATE -en nl HP:0030670 IAO:0000115 A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region NOT_TRANSLATED -en nl HP:0030671 rdfs:label Abnormal common tendinous ring morphology Abnormal common tendinous ring morphology NOT_TRANSLATED -en nl HP:0030671 IAO:0000115 Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles NOT_TRANSLATED -en nl HP:0030672 rdfs:label Asteroid hyalosis Asteroide hyalosis CANDIDATE -en nl HP:0030672 IAO:0000115 The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits NOT_TRANSLATED -en nl HP:0030673 rdfs:label Erosive vitreoretinopathy Erosieve vitreoretinopathie CANDIDATE -en nl HP:0030673 IAO:0000115 A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels NOT_TRANSLATED -en nl HP:0030674 rdfs:label Antenatal onset Antenatale onset CANDIDATE -en nl HP:0030674 IAO:0000115 Onset prior to birth Onset prior to birth NOT_TRANSLATED -en nl HP:0030675 rdfs:label Contracture of proximal interphalangeal joints of 2nd-5th fingers Contractuur van proximale interfalangeale gewrichten van de 2e-5e vinger CANDIDATE -en nl HP:0030675 IAO:0000115 Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue NOT_TRANSLATED -en nl HP:0030676 rdfs:label Satyr ear Satyr ear NOT_TRANSLATED -en nl HP:0030676 IAO:0000115 Sharp pointed superior portion of the ear, with variable overfolding of the helix Sharp pointed superior portion of the ear, with variable overfolding of the helix NOT_TRANSLATED -en nl HP:0030677 rdfs:label Mozart ear Mozart-oor CANDIDATE -en nl HP:0030677 IAO:0000115 A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus NOT_TRANSLATED -en nl HP:0030679 rdfs:label Ash-leaf spot Ash-leaf spot NOT_TRANSLATED -en nl HP:0030679 IAO:0000115 A hypopigmented spot in the shape of a leaf from the mountain ash tree A hypopigmented spot in the shape of a leaf from the mountain ash tree NOT_TRANSLATED -en nl HP:0030680 rdfs:label Abnormality of cardiovascular system morphology Abnormality of cardiovascular system morphology NOT_TRANSLATED -en nl HP:0030680 IAO:0000115 Any structural anomaly of the heart and great vessels Any structural anomaly of the heart and great vessels NOT_TRANSLATED -en nl HP:0030681 rdfs:label Abnormal morphology of myocardial trabeculae Abnormal morphology of myocardial trabeculae NOT_TRANSLATED -en nl HP:0030681 IAO:0000115 Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae) Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED -en nl HP:0030682 rdfs:label Left ventricular noncompaction Left ventricular noncompaction NOT_TRANSLATED -en nl HP:0030682 IAO:0000115 Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer NOT_TRANSLATED -en nl HP:0030683 rdfs:label Vaginitis Vaginitis CANDIDATE -en nl HP:0030683 IAO:0000115 Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge NOT_TRANSLATED -en nl HP:0030684 rdfs:label Abnormal adiponectin level Afwijkend adiponectine niveau CANDIDATE -en nl HP:0030684 IAO:0000115 A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism NOT_TRANSLATED -en nl HP:0030685 rdfs:label Decreased adiponectin level Afgenomen adiponectine niveau CANDIDATE -en nl HP:0030685 IAO:0000115 A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue NOT_TRANSLATED -en nl HP:0030686 rdfs:label Increased adiponectin level Toegenomen adiponectine niveau CANDIDATE -en nl HP:0030686 IAO:0000115 An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue NOT_TRANSLATED -en nl HP:0030687 rdfs:label Abnormal glucagon level Afwijkend glucagon niveau CANDIDATE -en nl HP:0030687 IAO:0000115 A deviation from the normal concentration of glucagon in the blood circulation A deviation from the normal concentration of glucagon in the blood circulation NOT_TRANSLATED -en nl HP:0030688 rdfs:label Increased glucagon level Verhoogd glucagon niveau CANDIDATE -en nl HP:0030688 IAO:0000115 An elevated concentration of glucagon in the blood circulation An elevated concentration of glucagon in the blood circulation NOT_TRANSLATED -en nl HP:0030689 rdfs:label Decreased glucagon level Afgenomen glucagon niveau CANDIDATE -en nl HP:0030689 IAO:0000115 A reduced concentration of glucagon in the blood circulation A reduced concentration of glucagon in the blood circulation NOT_TRANSLATED -en nl HP:0030690 rdfs:label Gingival cleft Gingivale schisis CANDIDATE -en nl HP:0030690 IAO:0000115 A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla NOT_TRANSLATED -en nl HP:0030691 rdfs:label Divergence nystagmus Divergentie nystagmus CANDIDATE -en nl HP:0030691 IAO:0000115 A condition in which both eyes beat outward simultaneously A condition in which both eyes beat outward simultaneously NOT_TRANSLATED -en nl HP:0030692 rdfs:label Brain neoplasm Brein neoplasma CANDIDATE -en nl HP:0030692 IAO:0000115 A benign or malignant neoplasm that arises from or metastasizes to the brain A benign or malignant neoplasm that arises from or metastasizes to the brain NOT_TRANSLATED -en nl HP:0030693 rdfs:label Supratentorial neoplasm Supratentorieel neoplasma CANDIDATE -en nl HP:0030693 IAO:0000115 A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli NOT_TRANSLATED -en nl HP:0030694 rdfs:label Pineal parenchymal cell neoplasm Pinealis-parenchym neoplasma CANDIDATE -en nl HP:0030706 rdfs:label Ranula Ranula CANDIDATE -en nl HP:0030706 IAO:0000115 A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location NOT_TRANSLATED -en nl HP:0030707 rdfs:label Unilateral lung agenesis Unilaterale long agenesie CANDIDATE -en nl HP:0030707 IAO:0000115 Lack of development of one lung Lack of development of one lung NOT_TRANSLATED -en nl HP:0030708 rdfs:label Myeloschisis Myeloschisis CANDIDATE -en nl HP:0030708 IAO:0000115 The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane NOT_TRANSLATED -en nl HP:0030709 rdfs:label Myelocystocele Myelocystocele CANDIDATE -en nl HP:0030709 IAO:0000115 Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst NOT_TRANSLATED -en nl HP:0030710 rdfs:label Lipomeningocele Lipomeningocele CANDIDATE -en nl HP:0030710 IAO:0000115 A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life NOT_TRANSLATED -en nl HP:0030711 rdfs:label Hydrocolpos Hydrocolpos CANDIDATE -en nl HP:0030711 IAO:0000115 Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction NOT_TRANSLATED -en nl HP:0030712 rdfs:label Uterine synechiae Uteriene synechiae CANDIDATE -en nl HP:0030712 IAO:0000115 Adhesions or scar tissue that form inside the cavity of the uterus Adhesions or scar tissue that form inside the cavity of the uterus NOT_TRANSLATED -en nl HP:0030713 rdfs:label Vein of Galen aneurysmal malformation Vein of Galen aneurysmal malformation NOT_TRANSLATED -en nl HP:0030713 IAO:0000115 Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen NOT_TRANSLATED -en nl HP:0030714 rdfs:label Subchorionic thrombohematoma Subchorionic thrombohematoma NOT_TRANSLATED -en nl HP:0030714 IAO:0000115 A large maternal clot that separates the chorionic plate from the villous chorion A large maternal clot that separates the chorionic plate from the villous chorion NOT_TRANSLATED -en nl HP:0030715 rdfs:label Bronchial atresia Bronchiale atresie CANDIDATE -en nl HP:0030715 IAO:0000115 A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis NOT_TRANSLATED -en nl HP:0030716 rdfs:label Acrania Acranie CANDIDATE -en nl HP:0030716 IAO:0000115 Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly NOT_TRANSLATED -en nl HP:0030717 rdfs:label Meconium peritonitis Meconium peritonitis CANDIDATE -en nl HP:0030717 IAO:0000115 Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications NOT_TRANSLATED -en nl HP:0030718 rdfs:label Right atrial enlargement Vergroting van rechter atrium CANDIDATE -en nl HP:0030718 IAO:0000115 Increase in size of the right atrium Increase in size of the right atrium NOT_TRANSLATED -en nl HP:0030719 rdfs:label Unguarded tricuspid valve Unguarded tricuspid valve NOT_TRANSLATED -en nl HP:0030719 IAO:0000115 A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue NOT_TRANSLATED -en nl HP:0030720 rdfs:label Subchorionic septal cyst Subchorionic septal cyst NOT_TRANSLATED -en nl HP:0030720 IAO:0000115 Cyst on the surface of the placenta consisting of amnion and chorion Cyst on the surface of the placenta consisting of amnion and chorion NOT_TRANSLATED -en nl HP:0030721 rdfs:label Tetraphocomelia Tetrafocomelie CANDIDATE -en nl HP:0030721 IAO:0000115 Phocomelia involving all four extremities Phocomelia involving all four extremities NOT_TRANSLATED -en nl HP:0030722 rdfs:label Ectopic liver Ectopische lever CANDIDATE -en nl HP:0030722 IAO:0000115 Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter NOT_TRANSLATED -en nl HP:0030723 rdfs:label Congenital megalourethra Congenitale megalourethra CANDIDATE -en nl HP:0030723 IAO:0000115 Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa NOT_TRANSLATED -en nl HP:0030724 rdfs:label Central nervous system cyst Centrale zenuwstelsel cyste CANDIDATE -en nl HP:0030724 IAO:0000115 A fluid-filled sac (cyst) located within the central nervous system A fluid-filled sac (cyst) located within the central nervous system NOT_TRANSLATED -en nl HP:0030725 rdfs:label Neurenteric cyst Neurenterische cyste CANDIDATE -en nl HP:0030725 IAO:0000115 The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium NOT_TRANSLATED -en nl HP:0030726 rdfs:label Spinal neurenteric cyst Spinale neurenterische cyste CANDIDATE -en nl HP:0030726 IAO:0000115 A neurenteric cyst located in the spine A neurenteric cyst located in the spine NOT_TRANSLATED -en nl HP:0030727 rdfs:label Intracranial neurenteric cyst Intracraniële neurenterische cyste CANDIDATE -en nl HP:0030727 IAO:0000115 A neurenteric cyst located within the skull A neurenteric cyst located within the skull NOT_TRANSLATED -en nl HP:0030728 rdfs:label Meromelia Meromelie CANDIDATE -en nl HP:0030728 IAO:0000115 Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot NOT_TRANSLATED -en nl HP:0030729 rdfs:label Frontoethmoidal meningocele Frontoethmoidal meningocele NOT_TRANSLATED -en nl HP:0030729 IAO:0000115 A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones NOT_TRANSLATED -en nl HP:0030730 rdfs:label Parietal meningocele Pariëtale meningocele CANDIDATE -en nl HP:0030730 IAO:0000115 A herniation of meninges through a congenital bone defect in the skull in the parietal region A herniation of meninges through a congenital bone defect in the skull in the parietal region NOT_TRANSLATED -en nl HP:0030731 rdfs:label Carcinoma Carcinoom CANDIDATE -en nl HP:0030731 IAO:0000115 A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus) A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus) NOT_TRANSLATED -en nl HP:0030732 rdfs:label Dysplastic tricuspid valve Dysplastische tricuspidalisklep CANDIDATE -en nl HP:0030732 IAO:0000115 A congenital malformation of the tricuspid valve characterized by leaflet deformation A congenital malformation of the tricuspid valve characterized by leaflet deformation NOT_TRANSLATED -en nl HP:0030733 rdfs:label Vesicoallantoic abdominal wall defect Vesicoallantoic abdominal wall defect NOT_TRANSLATED -en nl HP:0030733 IAO:0000115 An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst NOT_TRANSLATED -en nl HP:0030735 rdfs:label Ureterovesical junction obstruction Ureterovesical junction obstruction NOT_TRANSLATED -en nl HP:0030735 IAO:0000115 Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle NOT_TRANSLATED -en nl HP:0030736 rdfs:label Sacrococcygeal teratoma Sacrococcygeaal teratoom CANDIDATE -en nl HP:0030736 IAO:0000115 A teratoma arising in the sacro-coccygeal region A teratoma arising in the sacro-coccygeal region NOT_TRANSLATED -en nl HP:0030737 rdfs:label Altman type I sacrococcygeal teratoma Altman type 1 sacrococcygeaal teratoom CANDIDATE -en nl HP:0030737 IAO:0000115 A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks NOT_TRANSLATED -en nl HP:0030738 rdfs:label Altman type II sacrococcygeal teratoma Altman type 2 sacrococcygeaal teratoom CANDIDATE -en nl HP:0030738 IAO:0000115 A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component NOT_TRANSLATED -en nl HP:0030739 rdfs:label Altman type III sacrococcygeal teratoma Altman type 3 sacrococcygeal Teratoom CANDIDATE -en nl HP:0030739 IAO:0000115 A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass NOT_TRANSLATED -en nl HP:0030740 rdfs:label Anomalous muscle bundle of the right ventricle Anomaleuze spierbundel van het rechterventrikel CANDIDATE -en nl HP:0030740 IAO:0000115 An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract NOT_TRANSLATED -en nl HP:0030741 rdfs:label Mediastinal teratoma Mediastinaal teratoom CANDIDATE -en nl HP:0030741 IAO:0000115 A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs) A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs) NOT_TRANSLATED -en nl HP:0030742 rdfs:label Glial remnants posterior to lens Gliale restanten posterieur aan lens CANDIDATE -en nl HP:0030742 IAO:0000115 This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot NOT_TRANSLATED -en nl HP:0030743 rdfs:label Glial remnants anterior to the optic disc Gliale restanten anterieur van de optische schijf CANDIDATE -en nl HP:0030743 IAO:0000115 Persistance of a posterior remnant of the hyaloid artery located at the optic disc Persistance of a posterior remnant of the hyaloid artery located at the optic disc NOT_TRANSLATED -en nl HP:0030744 rdfs:label Hyaloid vascular remnant and retrolental mass Hyaloid vascular remnant and retrolental mass NOT_TRANSLATED -en nl HP:0030744 IAO:0000115 A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract NOT_TRANSLATED -en nl HP:0030745 rdfs:label Dilatation of the ductus arteriosus Dilatatie van de ductus arteriosus CANDIDATE -en nl HP:0030745 IAO:0000115 Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end NOT_TRANSLATED -en nl HP:0030746 rdfs:label Intraventricular hemorrhage Intraventriculaire bloeding CANDIDATE -en nl HP:0030746 IAO:0000115 Bleeding into the ventricles of the brain Bleeding into the ventricles of the brain NOT_TRANSLATED -en nl HP:0030747 rdfs:label Preterm intraventricular hemorrhage Premature intraventriculaire bloeding CANDIDATE -en nl HP:0030747 IAO:0000115 Intraventricular hemorrhage that occurs in a premature infant Intraventricular hemorrhage that occurs in a premature infant NOT_TRANSLATED -en nl HP:0030748 rdfs:label Grade I preterm intraventricular hemorrhage Graad 1 premature intraventriculaire bloeding CANDIDATE -en nl HP:0030748 IAO:0000115 Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove NOT_TRANSLATED -en nl HP:0030749 rdfs:label Grade II preterm intraventricular hemorrhage Graad 2 premature intraventriculaire bloeding CANDIDATE -en nl HP:0030749 IAO:0000115 Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle NOT_TRANSLATED -en nl HP:0030750 rdfs:label Grade III preterm intraventricular hemorrhage Graad 3 premature intraventriculaire bloeding CANDIDATE -en nl HP:0030750 IAO:0000115 Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles NOT_TRANSLATED -en nl HP:0030751 rdfs:label Grade IV preterm intraventricular hemorrhage Graad 4 premature intraventriculaire bloeding CANDIDATE -en nl HP:0030751 IAO:0000115 Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension NOT_TRANSLATED -en nl HP:0030752 rdfs:label Dacryocystocele Dacryocystocele CANDIDATE -en nl HP:0030752 IAO:0000115 A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve NOT_TRANSLATED -en nl HP:0030753 rdfs:label Intrauterine fetal demise of one twin after midgestation Intrauterine fetal demise of one twin after midgestation NOT_TRANSLATED -en nl HP:0030753 IAO:0000115 Loss of one twin occurring after midgestation (17 weeks gestation) Loss of one twin occurring after midgestation (17 weeks gestation) NOT_TRANSLATED -en nl HP:0030754 rdfs:label Allantoic cyst Allantoic cyst NOT_TRANSLATED -en nl HP:0030754 IAO:0000115 A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly NOT_TRANSLATED -en nl HP:0030755 rdfs:label Craniofacial teratoma Craniofaciaal teratoom CANDIDATE -en nl HP:0030755 IAO:0000115 A teratoma located in the craniofacial region A teratoma located in the craniofacial region NOT_TRANSLATED -en nl HP:0030756 rdfs:label Erythrodontia Erytrodontie CANDIDATE -en nl HP:0030756 IAO:0000115 Reddish, brown opalescent discoloration of teeth in normal light Reddish, brown opalescent discoloration of teeth in normal light NOT_TRANSLATED -en nl HP:0030757 rdfs:label Tooth abscess Abces van de tand CANDIDATE -en nl HP:0030757 IAO:0000115 A pocket of pus located within a region of a tooth A pocket of pus located within a region of a tooth NOT_TRANSLATED -en nl HP:0030758 rdfs:label Periapical tooth abscess Periapicaal tand abces CANDIDATE -en nl HP:0030758 IAO:0000115 A tooth abscess that occurs at the tip of the root (apex) of a tooth A tooth abscess that occurs at the tip of the root (apex) of a tooth NOT_TRANSLATED -en nl HP:0030759 rdfs:label Adipocyte hypertrophy Adipocyt hypertrofie CANDIDATE -en nl HP:0030759 IAO:0000115 An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy NOT_TRANSLATED -en nl HP:0030760 rdfs:label Renal fibrosis Renale fibrose CANDIDATE -en nl HP:0030760 IAO:0000115 Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease NOT_TRANSLATED -en nl HP:0030762 rdfs:label Mesangiolysis Mesangiolysis CANDIDATE -en nl HP:0030762 IAO:0000115 Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain NOT_TRANSLATED -en nl HP:0030763 rdfs:label Amniotic Sheet Amniotic Sheet NOT_TRANSLATED -en nl HP:0030763 IAO:0000115 A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion NOT_TRANSLATED -en nl HP:0030764 rdfs:label Ochronosis Ochronose CANDIDATE -en nl HP:0030764 IAO:0000115 Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved NOT_TRANSLATED -en nl HP:0030765 rdfs:label Sleep terror Pavor noturnus CANDIDATE -en nl HP:0030765 IAO:0000115 Episodes of intense fear, screaming and flailing although affected individuals are still asleep Episodes of intense fear, screaming and flailing although affected individuals are still asleep NOT_TRANSLATED -en nl HP:0030766 rdfs:label Ear pain Oorpijn CANDIDATE -en nl HP:0030766 IAO:0000115 Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia) Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia) NOT_TRANSLATED -en nl HP:0030767 rdfs:label Epignathus Epignathus CANDIDATE -en nl HP:0030767 IAO:0000115 Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate NOT_TRANSLATED -en nl HP:0030769 rdfs:label Exencephaly Exencefalie CANDIDATE -en nl HP:0030769 IAO:0000115 A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium NOT_TRANSLATED -en nl HP:0030770 rdfs:label Craniorachischisis Craniorachischisis CANDIDATE -en nl HP:0030770 IAO:0000115 A neural tube defect in which both the brain and spinal cord remain open to varying degrees A neural tube defect in which both the brain and spinal cord remain open to varying degrees NOT_TRANSLATED -en nl HP:0030771 rdfs:label Mallet finger Malletvinger CANDIDATE -en nl HP:0030771 IAO:0000115 Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own NOT_TRANSLATED -en nl HP:0030772 rdfs:label Proximal femoral focal deficiency Proximal femoral focal deficiency NOT_TRANSLATED -en nl HP:0030772 IAO:0000115 Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb NOT_TRANSLATED -en nl HP:0030773 rdfs:label Internuclear ophthalmoplegia Internucleaire oftalmoplegie CANDIDATE -en nl HP:0030773 IAO:0000115 An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule NOT_TRANSLATED -en nl HP:0030774 rdfs:label Mitochondrial swelling Mitochondriale zwelling CANDIDATE -en nl HP:0030774 IAO:0000115 The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures NOT_TRANSLATED -en nl HP:0030775 rdfs:label Modic type vertebral endplate changes Modic type vertebrale eindplaat veranderingen CANDIDATE -en nl HP:0030775 IAO:0000115 An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic NOT_TRANSLATED -en nl HP:0030776 rdfs:label Modic type I vertebral endplate changes Modic type I vertebrale eindplaat veranderingen CANDIDATE -en nl HP:0030776 IAO:0000115 An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation NOT_TRANSLATED -en nl HP:0030777 rdfs:label Modic type II vertebral endplate changes Modic type II vertebrale eindplaat veranderingen CANDIDATE -en nl HP:0030777 IAO:0000115 An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow NOT_TRANSLATED -en nl HP:0030778 rdfs:label Modic type III vertebral endplate changes Modic type III vertebrale eindplaat veranderingen CANDIDATE -en nl HP:0030778 IAO:0000115 An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs NOT_TRANSLATED -en nl HP:0030779 rdfs:label Ethmocephaly Ethmocefalie CANDIDATE -en nl HP:0030779 IAO:0000115 Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears NOT_TRANSLATED -en nl HP:0030780 rdfs:label Abnormality of the protein C anticoagulant pathway Abnormality of the protein C anticoagulant pathway NOT_TRANSLATED -en nl HP:0030780 IAO:0000115 An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC NOT_TRANSLATED -en nl HP:0030781 rdfs:label Increased circulating free fatty acid level Increased circulating free fatty acid level NOT_TRANSLATED -en nl HP:0030781 IAO:0000115 A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues NOT_TRANSLATED -en nl HP:0030782 rdfs:label Abnormal circulating interleukin concentration Abnormal circulating interleukin concentration NOT_TRANSLATED -en nl HP:0030782 IAO:0000115 An abnormal amount of any of the interleukins, a class of cytokines, in the circulation An abnormal amount of any of the interleukins, a class of cytokines, in the circulation NOT_TRANSLATED -en nl HP:0030783 rdfs:label Increased circulating interleukin 6 concentration Verhoogd serum Interleukine-6 CANDIDATE -en nl HP:0030783 IAO:0000115 An increased concentration of interleukin-6 in the blood circulation An increased concentration of interleukin-6 in the blood circulation NOT_TRANSLATED -en nl HP:0030784 rdfs:label Anomic aphasia Anomie CANDIDATE -en nl HP:0030784 IAO:0000115 An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name NOT_TRANSLATED -en nl HP:0030785 rdfs:label Mediastinal cystic lymphangioma Mediastinale cysteus lymfangioom CANDIDATE -en nl HP:0030785 IAO:0000115 A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors NOT_TRANSLATED -en nl HP:0030786 rdfs:label Photopsia Fotopsie CANDIDATE -en nl HP:0030786 IAO:0000115 Perceived flashes of light Perceived flashes of light NOT_TRANSLATED -en nl HP:0030787 rdfs:label Cerumen abnormality Cerumen afwijking CANDIDATE -en nl HP:0030787 IAO:0000115 Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal NOT_TRANSLATED -en nl HP:0030788 rdfs:label Impacted cerumen Geïmpacteerd cerumen CANDIDATE -en nl HP:0030788 IAO:0000115 Blockage of the external auditory canal by a buildup of earwax Blockage of the external auditory canal by a buildup of earwax NOT_TRANSLATED -en nl HP:0030789 rdfs:label Excessive cerumen Overmatig cerumen CANDIDATE -en nl HP:0030789 IAO:0000115 An increased quantity of earwax An increased quantity of earwax NOT_TRANSLATED -en nl HP:0030790 rdfs:label Abnormal cerumen color Afwijkende cerumen kleur CANDIDATE -en nl HP:0030790 IAO:0000115 An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color NOT_TRANSLATED -en nl HP:0030791 rdfs:label Abnormal jaw morphology Afwijkende kaak morfologie CANDIDATE -en nl HP:0030791 IAO:0000115 A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla NOT_TRANSLATED -en nl HP:0030792 rdfs:label Jaw neoplasm Kaak neoplasma CANDIDATE -en nl HP:0030792 IAO:0000115 A tumor originating in the jaw (mandible or maxilla) A tumor originating in the jaw (mandible or maxilla) NOT_TRANSLATED -en nl HP:0030793 rdfs:label Jaw swelling Kaakzwelling CANDIDATE -en nl HP:0030793 IAO:0000115 Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible) Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible) NOT_TRANSLATED -en nl HP:0030794 rdfs:label Abnormal circulating C-peptide concentration Afwijkend C-peptide niveau CANDIDATE -en nl HP:0030794 IAO:0000115 An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion NOT_TRANSLATED -en nl HP:0030795 rdfs:label Reduced C-peptide level Verminderd C-peptide niveau CANDIDATE -en nl HP:0030795 IAO:0000115 A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion NOT_TRANSLATED -en nl HP:0030796 rdfs:label Increased C-peptide level Toegenomen C-peptide niveau CANDIDATE -en nl HP:0030796 IAO:0000115 An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion NOT_TRANSLATED -en nl HP:0030797 rdfs:label Reduced volume of central subdivision of bed nucleus of stria terminalis Reduced volume of central subdivision of bed nucleus of stria terminalis NOT_TRANSLATED -en nl HP:0030797 IAO:0000115 A diminished volume of the central part of the bed nucleus of the stria terminalis A diminished volume of the central part of the bed nucleus of the stria terminalis NOT_TRANSLATED -en nl HP:0030798 rdfs:label Abnormality of the bed nucleus of stria terminalis Abnormality of the bed nucleus of stria terminalis NOT_TRANSLATED -en nl HP:0030798 IAO:0000115 The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus NOT_TRANSLATED -en nl HP:0030799 rdfs:label Scaphocephaly Scafocefalie CANDIDATE -en nl HP:0030799 IAO:0000115 Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis NOT_TRANSLATED -en nl HP:0030800 rdfs:label Abnormal visual accommodation Afwijkende visuele accommodatie CANDIDATE -en nl HP:0030800 IAO:0000115 An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power NOT_TRANSLATED -en nl HP:0030801 rdfs:label Reduced visual accommodation Verminderde visuele accommodatie CANDIDATE -en nl HP:0030801 IAO:0000115 A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances NOT_TRANSLATED -en nl HP:0030802 rdfs:label Lower eyelid retraction Onderste ooglid retractie CANDIDATE -en nl HP:0030802 IAO:0000115 Inferior malposition of the lower eyelid margin without eyelid eversion Inferior malposition of the lower eyelid margin without eyelid eversion NOT_TRANSLATED -en nl HP:0030803 rdfs:label Platonychia Platonychia CANDIDATE -en nl HP:0030803 IAO:0000115 Abnormal flat nail Abnormal flat nail NOT_TRANSLATED -en nl HP:0030804 rdfs:label Trachyonychia Trachyonychia CANDIDATE -en nl HP:0030804 IAO:0000115 Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix NOT_TRANSLATED -en nl HP:0030805 rdfs:label Absent lunula Afwezige lunula CANDIDATE -en nl HP:0030805 IAO:0000115 Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail NOT_TRANSLATED -en nl HP:0030806 rdfs:label Fast-growing nails Snel groeiende nagels CANDIDATE -en nl HP:0030806 IAO:0000115 Nails whose growth is quicker than normal Nails whose growth is quicker than normal NOT_TRANSLATED -en nl HP:0030807 rdfs:label Abnormal nail growth Afwijkende nagel groei CANDIDATE -en nl HP:0030807 IAO:0000115 Nail whose growth pattern or speed deviates from normal Nail whose growth pattern or speed deviates from normal NOT_TRANSLATED -en nl HP:0030808 rdfs:label Ragged cuticle Ragged cuticle NOT_TRANSLATED -en nl HP:0030808 IAO:0000115 The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle NOT_TRANSLATED -en nl HP:0030809 rdfs:label Abnormal tongue morphology Afwijkende tong morfologie CANDIDATE -en nl HP:0030809 IAO:0000115 Any structural anomaly of the tongue Any structural anomaly of the tongue NOT_TRANSLATED -en nl HP:0030810 rdfs:label Abnormal tongue physiology Afwijkende tong fysiologie CANDIDATE -en nl HP:0030810 IAO:0000115 Any functional anomaly of the tongue Any functional anomaly of the tongue NOT_TRANSLATED -en nl HP:0030811 rdfs:label Tongue pain Tong pijn CANDIDATE -en nl HP:0030811 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue NOT_TRANSLATED -en nl HP:0030812 rdfs:label Enlarged tonsils Vergrote tonsillen CANDIDATE -en nl HP:0030812 IAO:0000115 Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat NOT_TRANSLATED -en nl HP:0030813 rdfs:label Absent tonsils Afwezige tonsillen CANDIDATE -en nl HP:0030813 IAO:0000115 Lack of observable tonsillar tissue Lack of observable tonsillar tissue NOT_TRANSLATED -en nl HP:0030814 rdfs:label Orange discolored tonsils Oranje verkleurde tonsillen CANDIDATE -en nl HP:0030814 IAO:0000115 A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903 A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903 NOT_TRANSLATED -en nl HP:0030815 rdfs:label Lipoma of the tongue Lipoom van de tong CANDIDATE -en nl HP:0030815 IAO:0000115 A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue NOT_TRANSLATED -en nl HP:0030816 rdfs:label Gingival recession Gingivale recessie CANDIDATE -en nl HP:0030816 IAO:0000115 The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth NOT_TRANSLATED -en nl HP:0030817 rdfs:label Beaked nails Beaked nails NOT_TRANSLATED -en nl HP:0030817 IAO:0000115 Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit NOT_TRANSLATED -en nl HP:0030818 rdfs:label Central nail canal Central nail canal NOT_TRANSLATED -en nl HP:0030818 IAO:0000115 "The presence of a depressed line (""canal"") in the center of the nail" "The presence of a depressed line (""canal"") in the center of the nail" NOT_TRANSLATED -en nl HP:0030819 rdfs:label Ski jump nail Ski jump nail NOT_TRANSLATED -en nl HP:0030819 IAO:0000115 Nails that slope upward at the free edge Nails that slope upward at the free edge NOT_TRANSLATED -en nl HP:0030820 rdfs:label Hooded eyelid Hooded eyelid NOT_TRANSLATED -en nl HP:0030820 IAO:0000115 Eyelid partly covered by skin when eyes are open Eyelid partly covered by skin when eyes are open NOT_TRANSLATED -en nl HP:0030821 rdfs:label Hooded lower eyelid Hooded lower eyelid NOT_TRANSLATED -en nl HP:0030821 IAO:0000115 Lower eyelid partly covered by skin when eyes are open Lower eyelid partly covered by skin when eyes are open NOT_TRANSLATED -en nl HP:0030822 rdfs:label Hooded upper eyelid Hooded upper eyelid NOT_TRANSLATED -en nl HP:0030822 IAO:0000115 Upper eyelid partly covered by skin when eyes are open Upper eyelid partly covered by skin when eyes are open NOT_TRANSLATED -en nl HP:0030823 rdfs:label Scleral thickening Sclerale verdikking CANDIDATE -en nl HP:0030823 IAO:0000115 Increased dimension of the sclera in the anterior-posterior axis Increased dimension of the sclera in the anterior-posterior axis NOT_TRANSLATED -en nl HP:0030824 rdfs:label Mizuo phenomenon Mizuo fenomeen CANDIDATE -en nl HP:0030824 IAO:0000115 Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14] Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14] NOT_TRANSLATED -en nl HP:0030825 rdfs:label Absent foveal reflex Afwezige foveale reflex CANDIDATE -en nl HP:0030825 IAO:0000115 Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope NOT_TRANSLATED -en nl HP:0030826 rdfs:label Eyelid fasciculation Ooglid fasciculatie CANDIDATE -en nl HP:0030826 IAO:0000115 Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching NOT_TRANSLATED -en nl HP:0030828 rdfs:label Wheezing Piepende ademhaling CANDIDATE -en nl HP:0030828 IAO:0000115 A high-pitched whistling sound associated with labored breathing A high-pitched whistling sound associated with labored breathing NOT_TRANSLATED -en nl HP:0030829 rdfs:label Abnormal breath sound Afwijkend ademgeluid CANDIDATE -en nl HP:0030829 IAO:0000115 An anomalous (adventitious) sound produced by the breathing process An anomalous (adventitious) sound produced by the breathing process NOT_TRANSLATED -en nl HP:0030830 rdfs:label Crackles Çrepitaties CANDIDATE -en nl HP:0030830 IAO:0000115 Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position NOT_TRANSLATED -en nl HP:0030831 rdfs:label Rhonchi Rhonchi CANDIDATE -en nl HP:0030831 IAO:0000115 Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds NOT_TRANSLATED -en nl HP:0030832 rdfs:label Vitreous strands Glasvocht strengen CANDIDATE -en nl HP:0030832 IAO:0000115 Fiber- or rope-like opacities located within the vitreous humor Fiber- or rope-like opacities located within the vitreous humor NOT_TRANSLATED -en nl HP:0030833 rdfs:label Neck pain Nekpijn CANDIDATE -en nl HP:0030833 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck NOT_TRANSLATED -en nl HP:0030834 rdfs:label Shoulder pain Schouderpijn CANDIDATE -en nl HP:0030834 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder NOT_TRANSLATED -en nl HP:0030835 rdfs:label Elbow pain Elleboog pijn CANDIDATE -en nl HP:0030835 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow NOT_TRANSLATED -en nl HP:0030836 rdfs:label Wrist pain Pols pijn CANDIDATE -en nl HP:0030836 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist NOT_TRANSLATED -en nl HP:0030837 rdfs:label Finger pain Vinger pijn CANDIDATE -en nl HP:0030837 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger NOT_TRANSLATED -en nl HP:0030838 rdfs:label Hip pain Heup pijn CANDIDATE -en nl HP:0030838 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip NOT_TRANSLATED -en nl HP:0030839 rdfs:label Knee pain Kniepijn CANDIDATE -en nl HP:0030839 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee NOT_TRANSLATED -en nl HP:0030840 rdfs:label Ankle pain Enkel pijn CANDIDATE -en nl HP:0030840 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle NOT_TRANSLATED -en nl HP:0030841 rdfs:label Toe pain Teen pijn CANDIDATE -en nl HP:0030841 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe NOT_TRANSLATED -en nl HP:0030842 rdfs:label Choking episodes Episodes van stikken CANDIDATE -en nl HP:0030842 IAO:0000115 Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing NOT_TRANSLATED -en nl HP:0030843 rdfs:label Cardiac amyloidosis Cardiale amyloidose CANDIDATE -en nl HP:0030843 IAO:0000115 Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding NOT_TRANSLATED -en nl HP:0030844 rdfs:label Undetectable pattern electroretinogram Undetectable pattern electroretinogram NOT_TRANSLATED -en nl HP:0030844 IAO:0000115 Absent response to a pattern electroretinogram (PERG) Absent response to a pattern electroretinogram (PERG) NOT_TRANSLATED -en nl HP:0030845 rdfs:label Heliotrope rash of eyelid Heliotrope rash of eyelid NOT_TRANSLATED -en nl HP:0030845 IAO:0000115 Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema NOT_TRANSLATED -en nl HP:0030846 rdfs:label Abnormality of venous physiology Afwijking van de veneuze fysiologie CANDIDATE -en nl HP:0030846 IAO:0000115 An anomaly of venous function An anomaly of venous function NOT_TRANSLATED -en nl HP:0030847 rdfs:label Abnormal jugular venous pressure Afwijkende vena jugularis druk CANDIDATE -en nl HP:0030847 IAO:0000115 An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure NOT_TRANSLATED -en nl HP:0030848 rdfs:label Elevated jugular venous pressure Verhoogde vena jugularis druk CANDIDATE -en nl HP:0030848 IAO:0000115 Increased jugular venous pressure Increased jugular venous pressure NOT_TRANSLATED -en nl HP:0030849 rdfs:label Hepatojugular reflux Hepatojugulaire reflux CANDIDATE -en nl HP:0030849 IAO:0000115 The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux NOT_TRANSLATED -en nl HP:0030850 rdfs:label Abnormal pulse pressure Afwijkende polsdruk CANDIDATE -en nl HP:0030850 IAO:0000115 An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure NOT_TRANSLATED -en nl HP:0030851 rdfs:label Low pulse pressure Lage polsdruk CANDIDATE -en nl HP:0030851 IAO:0000115 Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) NOT_TRANSLATED -en nl HP:0030852 rdfs:label High pulse pressure Hoge polsdruk CANDIDATE -en nl HP:0030852 IAO:0000115 Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) NOT_TRANSLATED -en nl HP:0030853 rdfs:label Heterotaxy Heterotaxie CANDIDATE -en nl HP:0030853 IAO:0000115 An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body NOT_TRANSLATED -en nl HP:0030854 rdfs:label Scleral staphyloma Scleraal stafyloom CANDIDATE -en nl HP:0030854 IAO:0000115 A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure NOT_TRANSLATED -en nl HP:0030855 rdfs:label Anterior staphyloma Anterieur stafyloom CANDIDATE -en nl HP:0030855 IAO:0000115 A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure NOT_TRANSLATED -en nl HP:0030856 rdfs:label Posterior staphyloma Posterieur stafyloom CANDIDATE -en nl HP:0030856 IAO:0000115 A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure NOT_TRANSLATED -en nl HP:0030857 rdfs:label Eye movement-induced pain Oogbeweging-geïnduceerde pijn CANDIDATE -en nl HP:0030857 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding NOT_TRANSLATED -en nl HP:0030858 rdfs:label Addictive behavior Verslavend gedrag CANDIDATE -en nl HP:0030858 IAO:0000115 A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains NOT_TRANSLATED -en nl HP:0030859 rdfs:label Anti-topoisomerase I antibody positivity Topoisomerase I antistoffen positiviteit CANDIDATE -en nl HP:0030859 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I NOT_TRANSLATED -en nl HP:0030860 rdfs:label Abnormal CSF amyloid concentration Afwijkend liquor amyloïd niveau CANDIDATE -en nl HP:0030860 IAO:0000115 Abnormal concentration of amyloid in the cerebrospinal fluid (CSF) Abnormal concentration of amyloid in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0030861 rdfs:label Decreased CSF amyloid concentration Verminderd liquor amyloid niveau CANDIDATE -en nl HP:0030861 IAO:0000115 Reduced concentration of amyloid in the cerebrospinal fluid (CSF) Reduced concentration of amyloid in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0030862 rdfs:label Elevated CSF amyloid concentration Verhoogd liquor amyloid niveau CANDIDATE -en nl HP:0030862 IAO:0000115 Increased concentration of amyloid in the cerebrospinal fluid (CSF) Increased concentration of amyloid in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0030863 rdfs:label Nasal flaring Nasal flaring NOT_TRANSLATED -en nl HP:0030863 IAO:0000115 Widening of the nostrils upon inhalation as a manifestation of respiratory distress Widening of the nostrils upon inhalation as a manifestation of respiratory distress NOT_TRANSLATED -en nl HP:0030864 rdfs:label Intercostal retractions Intercostale retracties CANDIDATE -en nl HP:0030864 IAO:0000115 A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress NOT_TRANSLATED -en nl HP:0030865 rdfs:label Large elbow Grote elleboog CANDIDATE -en nl HP:0030865 IAO:0000115 Abnormal increased size of the elbow joint Abnormal increased size of the elbow joint NOT_TRANSLATED -en nl HP:0030866 rdfs:label Large knee Grote knie CANDIDATE -en nl HP:0030866 IAO:0000115 Abnormally increased size of the knee joint Abnormally increased size of the knee joint NOT_TRANSLATED -en nl HP:0030867 rdfs:label Vertical orbital dystopia Verticale orbitale dystopie CANDIDATE -en nl HP:0030867 IAO:0000115 The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other NOT_TRANSLATED -en nl HP:0030868 rdfs:label Monorchism Monorchisme CANDIDATE -en nl HP:0030868 IAO:0000115 Having only one testis in the scrotum Having only one testis in the scrotum NOT_TRANSLATED -en nl HP:0030869 rdfs:label Anorchism Anorchisme CANDIDATE -en nl HP:0030869 IAO:0000115 An abnormality of XY sexual development characterized by the absence of both testes at birth An abnormality of XY sexual development characterized by the absence of both testes at birth NOT_TRANSLATED -en nl HP:0030870 rdfs:label Abnormality of spinal facet joint Abnormality of spinal facet joint NOT_TRANSLATED -en nl HP:0030870 IAO:0000115 An anomaly of the small joints located between and behind adjacent vertebrae An anomaly of the small joints located between and behind adjacent vertebrae NOT_TRANSLATED -en nl HP:0030871 rdfs:label Facet joint arthrosis Facet joint arthrosis NOT_TRANSLATED -en nl HP:0030871 IAO:0000115 Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray NOT_TRANSLATED -en nl HP:0030872 rdfs:label Abnormal cardiac ventricular function Afwijkende cardiale ventriculaire functie CANDIDATE -en nl HP:0030872 IAO:0000115 An abnormality of the cardiac ventricular function An abnormality of the cardiac ventricular function NOT_TRANSLATED -en nl HP:0030873 rdfs:label Anti-centromere antibody positivity Anti-centromeer antistoffen positiviteit CANDIDATE -en nl HP:0030873 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components NOT_TRANSLATED -en nl HP:0030874 rdfs:label Oxygen desaturation on exertion Zuurstof desaturatie bij inspanning CANDIDATE -en nl HP:0030874 IAO:0000115 Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa NOT_TRANSLATED -en nl HP:0030875 rdfs:label Abnormality of pulmonary circulation Abnormality of pulmonary circulation NOT_TRANSLATED -en nl HP:0030875 IAO:0000115 A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart NOT_TRANSLATED -en nl HP:0030876 rdfs:label Increased pulmonary capillary wedge pressure Verhoogde pulmonary capillary wedge pressure CANDIDATE -en nl HP:0030876 IAO:0000115 Pulmonary capillary wedge pressure (PCWP) above 15mmHg Pulmonary capillary wedge pressure (PCWP) above 15mmHg NOT_TRANSLATED -en nl HP:0030877 rdfs:label Reduced FEV1/FVC ratio Obstructief tekort tijdens functioneel longonderzoek CANDIDATE -en nl HP:0030877 IAO:0000115 Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity) Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity) NOT_TRANSLATED -en nl HP:0030878 rdfs:label Abnormality on pulmonary function testing Afwijking tijdens functioneel longonderzoek CANDIDATE -en nl HP:0030878 IAO:0000115 Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography NOT_TRANSLATED -en nl HP:0030879 rdfs:label Interlobular septal thickening Interlobulaire septum verdikking op pulmonale HRCT CANDIDATE -en nl HP:0030879 IAO:0000115 Presence of thickening of the interlobular septa of the lungs as seen on a CT scan Presence of thickening of the interlobular septa of the lungs as seen on a CT scan NOT_TRANSLATED -en nl HP:0030880 rdfs:label Raynaud phenomenon fenomeen van Raynaud CANDIDATE -en nl HP:0030881 rdfs:label Shoulder impingement Schouder impingement CANDIDATE -en nl HP:0030881 IAO:0000115 Trapping and compression of the rotator cuff tendons during shoulder movements Trapping and compression of the rotator cuff tendons during shoulder movements NOT_TRANSLATED -en nl HP:0030882 rdfs:label Coronary artery aneurysm Coronairarterie aneurysma CANDIDATE -en nl HP:0030882 IAO:0000115 Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel NOT_TRANSLATED -en nl HP:0030883 rdfs:label Femoroacetabular impingement Femoro-acetabulaire impingement CANDIDATE -en nl HP:0030883 IAO:0000115 Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis NOT_TRANSLATED -en nl HP:0030884 rdfs:label Gastrojejunal tube feeding in infancy Gastrojejunal tube feeding in infancy NOT_TRANSLATED -en nl HP:0030884 IAO:0000115 Feeding problem necessitating gastrojejunal tube feeding Feeding problem necessitating gastrojejunal tube feeding NOT_TRANSLATED -en nl HP:0030885 rdfs:label Recurrent parasitic infections Recidiverende parasitaire infecties CANDIDATE -en nl HP:0030885 IAO:0000115 Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection NOT_TRANSLATED -en nl HP:0030886 rdfs:label Abnormal lymphocyte apoptosis Afwijkende lymfocytaire apoptose CANDIDATE -en nl HP:0030886 IAO:0000115 A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes NOT_TRANSLATED -en nl HP:0030887 rdfs:label Increased lymphocyte apoptosis Toegenomen lymfocytaire apoptose CANDIDATE -en nl HP:0030887 IAO:0000115 A elevation in the rate of apoptosis in lymphocytes A elevation in the rate of apoptosis in lymphocytes NOT_TRANSLATED -en nl HP:0030888 rdfs:label C3 nephritic factor positivity C3-nefritische factor positiviteit CANDIDATE -en nl HP:0030888 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb) The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb) NOT_TRANSLATED -en nl HP:0030889 rdfs:label Congenital shortened small intestine Congenitaal verkorte dunne darm CANDIDATE -en nl HP:0030889 IAO:0000115 Substantially shortened length of the small intestine as a result of a developmental defect Substantially shortened length of the small intestine as a result of a developmental defect NOT_TRANSLATED -en nl HP:0030890 rdfs:label Hyperintensity of cerebral white matter on MRI Hyperintensiteit van cerebrale witte stof op MRI CANDIDATE -en nl HP:0030890 IAO:0000115 A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter NOT_TRANSLATED -en nl HP:0030891 rdfs:label Periventricular white matter hyperintensities Periventriculaire witte stof hyperdensiteiten CANDIDATE -en nl HP:0030891 IAO:0000115 Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles NOT_TRANSLATED -en nl HP:0030892 rdfs:label Deep cerebral white matter hyperintensities Diepe cerebrale witte stof hyperdensiteiten CANDIDATE -en nl HP:0030892 IAO:0000115 Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system NOT_TRANSLATED -en nl HP:0030893 rdfs:label Abnormal response to short acting pulmonary vasodilator Afwijkende reactie op kort-werkende pulmonale vasodilatator CANDIDATE -en nl HP:0030893 IAO:0000115 Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg NOT_TRANSLATED -en nl HP:0030894 rdfs:label Insufficient response to short acting pulmonary vasodilator Onvoldoende reactie op kort-werkende pulmonale vasodilatator CANDIDATE -en nl HP:0030894 IAO:0000115 No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide NOT_TRANSLATED -en nl HP:0030895 rdfs:label Abnormal gastrointestinal motility Afwijkende gastro-intestinale motiliteit CANDIDATE -en nl HP:0030895 IAO:0000115 An anomaly of the muscular contractions that propel food though the gastrointestinal tract An anomaly of the muscular contractions that propel food though the gastrointestinal tract NOT_TRANSLATED -en nl HP:0030896 rdfs:label Abnormal gastrointestinal transit time Afwijking van gastro-intestinale doorlooptijd CANDIDATE -en nl HP:0030896 IAO:0000115 A deviation from the normal amount of time required for food to pass through the intestines A deviation from the normal amount of time required for food to pass through the intestines NOT_TRANSLATED -en nl HP:0030897 rdfs:label Decreased intestinal transit time Verminderde gastro-intestinale doorlooptijd CANDIDATE -en nl HP:0030897 IAO:0000115 A reduction in the length of time required for food to pass through the intestines A reduction in the length of time required for food to pass through the intestines NOT_TRANSLATED -en nl HP:0030898 rdfs:label Pruritis on abdomen Pruritis op buik CANDIDATE -en nl HP:0030898 IAO:0000115 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen NOT_TRANSLATED -en nl HP:0030899 rdfs:label Pruritis on hand Pruritis op hand CANDIDATE -en nl HP:0030899 IAO:0000115 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand NOT_TRANSLATED -en nl HP:0030900 rdfs:label Pruritus on foot Pruritus op voet CANDIDATE -en nl HP:0030900 IAO:0000115 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot NOT_TRANSLATED -en nl HP:0030901 rdfs:label Pruritis on breast Pruritis op borst CANDIDATE -en nl HP:0030901 IAO:0000115 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast NOT_TRANSLATED -en nl HP:0030902 rdfs:label Palmomental reflex Palmomentale reflex CANDIDATE -en nl HP:0030902 IAO:0000115 A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm NOT_TRANSLATED -en nl HP:0030903 rdfs:label Grasp reflex Grijpreflex CANDIDATE -en nl HP:0030903 IAO:0000115 A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395] A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395] NOT_TRANSLATED -en nl HP:0030904 rdfs:label Glabellar reflex Glabellaire reflex CANDIDATE -en nl HP:0030904 IAO:0000115 A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign NOT_TRANSLATED -en nl HP:0030905 rdfs:label Snout reflex Snuitreflex CANDIDATE -en nl HP:0030905 IAO:0000115 A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout NOT_TRANSLATED -en nl HP:0030906 rdfs:label Suck reflex Zuigreflex CANDIDATE -en nl HP:0030906 IAO:0000115 A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched NOT_TRANSLATED -en nl HP:0030907 rdfs:label Thunderclap headache Donderslaghoofdpijn CANDIDATE -en nl HP:0030907 IAO:0000115 Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days NOT_TRANSLATED -en nl HP:0030908 rdfs:label Liver kidney microsome type 1 antibody positivity Lever/nier microsoom type 1 antistoffen positiviteit CANDIDATE -en nl HP:0030908 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2) The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2) NOT_TRANSLATED -en nl HP:0030909 rdfs:label Anti-liver cytosolic antigen type 1 antibody positivity Anti-lever cytosolisch antigeen type 1 antistoffen positief CANDIDATE -en nl HP:0030909 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction NOT_TRANSLATED -en nl HP:0030911 rdfs:label Bifid clitoris Bifide clitoris CANDIDATE -en nl HP:0030911 IAO:0000115 Two clitorides located side by side Two clitorides located side by side NOT_TRANSLATED -en nl HP:0030912 rdfs:label Duplicated clitoris Gedupliceerde clitoris CANDIDATE -en nl HP:0030912 IAO:0000115 Supernumerary clitoris Supernumerary clitoris NOT_TRANSLATED -en nl HP:0030913 rdfs:label Exaggerated rugosity of the labia majora Exaggerated rugosity of the labia majora NOT_TRANSLATED -en nl HP:0030913 IAO:0000115 Marked rugae formation of the skin of the labia majora Marked rugae formation of the skin of the labia majora NOT_TRANSLATED -en nl HP:0030914 rdfs:label Abnormal peristalsis Afwijkende peristaltiek CANDIDATE -en nl HP:0030914 IAO:0000115 An anomaly of the wave-like muscle contractions of the digestive tract An anomaly of the wave-like muscle contractions of the digestive tract NOT_TRANSLATED -en nl HP:0030915 rdfs:label Cerebellar edema Cerebellair oedeem CANDIDATE -en nl HP:0030915 IAO:0000115 Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum NOT_TRANSLATED -en nl HP:0030917 rdfs:label Low APGAR score Lage APGAR score CANDIDATE -en nl HP:0030918 rdfs:label Low 1-minute APGAR score Lage 1-minuut APGAR score CANDIDATE -en nl HP:0030919 rdfs:label Low 5-minute APGAR score Lage 5-minuut APGAR score CANDIDATE -en nl HP:0030920 rdfs:label 5-minute APGAR score of 0 5-minuut APGAR score van 0 CANDIDATE -en nl HP:0030921 rdfs:label 5-minute APGAR score of 1 5-minuut APGAR score van 1 CANDIDATE -en nl HP:0030922 rdfs:label 5-minute APGAR score of 2 5-minuut APGAR score van 2 CANDIDATE -en nl HP:0030923 rdfs:label 5-minute APGAR score of 3 5-minuut APGAR score van 3 CANDIDATE -en nl HP:0030924 rdfs:label 5-minute APGAR score of 4 5-minuut APGAR score van 4 CANDIDATE -en nl HP:0030925 rdfs:label 5-minute APGAR score of 5 5-minuut APGAR score van 5 CANDIDATE -en nl HP:0030926 rdfs:label 5-minute APGAR score of 6 5-minuut APGAR score van 6 CANDIDATE -en nl HP:0030927 rdfs:label 1-minute APGAR score of 0 1-minuut APGAR score van 0 CANDIDATE -en nl HP:0030928 rdfs:label 1-minute APGAR score of 1 1-minuut APGAR score van 1 CANDIDATE -en nl HP:0030929 rdfs:label 1-minute APGAR score of 2 1-minuut APGAR score van 2 CANDIDATE -en nl HP:0030930 rdfs:label 1-minute APGAR score of 3 1-minuut APGAR score van 3 CANDIDATE -en nl HP:0030931 rdfs:label 1-minute APGAR score of 4 1-minuut APGAR score van 4 CANDIDATE -en nl HP:0030932 rdfs:label 1-minute APGAR score of 5 1-minuut APGAR score van 5 CANDIDATE -en nl HP:0030933 rdfs:label 1-minute APGAR score of 6 1-minuut APGAR score van 6 CANDIDATE -en nl HP:0030934 rdfs:label Oral erythroplakia Orale erytroplakie CANDIDATE -en nl HP:0030934 IAO:0000115 A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed NOT_TRANSLATED -en nl HP:0030935 rdfs:label Abnormality of intestinal smooth muscle morphology Abnormality of intestinal smooth muscle morphology NOT_TRANSLATED -en nl HP:0030935 IAO:0000115 A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine NOT_TRANSLATED -en nl HP:0030936 rdfs:label Abnormal layering of muscularis propria Abnormal layering of muscularis propria NOT_TRANSLATED -en nl HP:0030936 IAO:0000115 Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer NOT_TRANSLATED -en nl HP:0030937 rdfs:label Fibrotic muscularis propria Fibrotische muscularis propria CANDIDATE -en nl HP:0030937 IAO:0000115 The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process NOT_TRANSLATED -en nl HP:0030938 rdfs:label Enteric intraneuronal nuclear inclusion bodies Enterische intraneuronale nucleaire inclusielichaampjes CANDIDATE -en nl HP:0030938 IAO:0000115 Aggregates of stainable substances (proteins) in the nuclei of enteric neurons Aggregates of stainable substances (proteins) in the nuclei of enteric neurons NOT_TRANSLATED -en nl HP:0030939 rdfs:label Palpebral thickening Palpebrale verdikking CANDIDATE -en nl HP:0030939 IAO:0000115 An increased thickness of the eyelid not related to acute inflammation An increased thickness of the eyelid not related to acute inflammation NOT_TRANSLATED -en nl HP:0030943 rdfs:label Vulvodynia Vulvodynie CANDIDATE -en nl HP:0030943 IAO:0000115 Pain in the vulvar area Pain in the vulvar area NOT_TRANSLATED -en nl HP:0030946 rdfs:label Conjunctival papillae Conjunctivale papillae CANDIDATE -en nl HP:0030946 IAO:0000115 Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells NOT_TRANSLATED -en nl HP:0030947 rdfs:label Conjunctival follicles Conjunctivale follikels CANDIDATE -en nl HP:0030947 IAO:0000115 Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells NOT_TRANSLATED -en nl HP:0030948 rdfs:label Elevated gamma-glutamyltransferase level Elevated gamma-glutamyltransferase level NOT_TRANSLATED -en nl HP:0030948 IAO:0000115 Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues NOT_TRANSLATED -en nl HP:0030949 rdfs:label Glomerular deposits Glomerulaire deposities CANDIDATE -en nl HP:0030949 IAO:0000115 An abnormal accumulation of protein in the glomerulus An abnormal accumulation of protein in the glomerulus NOT_TRANSLATED -en nl HP:0030950 rdfs:label Pulmonary venous hypertension Pulmonale veneuze hypertensie CANDIDATE -en nl HP:0030950 IAO:0000115 An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension NOT_TRANSLATED -en nl HP:0030951 rdfs:label Skeletal muscle fibrosis Skeletspier fibrose CANDIDATE -en nl HP:0030951 IAO:0000115 Excessive formation of fibrous bands of scar tissue in between muscle fibers Excessive formation of fibrous bands of scar tissue in between muscle fibers NOT_TRANSLATED -en nl HP:0030952 rdfs:label Birdshot retinochoroidopathy Birdshot choroïdale leasies CANDIDATE -en nl HP:0030952 IAO:0000115 Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus NOT_TRANSLATED -en nl HP:0030953 rdfs:label Conjunctival hyperemia Conjunctivale hyperemie CANDIDATE -en nl HP:0030953 IAO:0000115 Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera NOT_TRANSLATED -en nl HP:0030955 rdfs:label Alcoholism Alcoholisme CANDIDATE -en nl HP:0030955 IAO:0000115 An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol NOT_TRANSLATED -en nl HP:0030956 rdfs:label Abnormality of cardiovascular system electrophysiology Afwijking van electrofysiologie van cardiovasculair systeem CANDIDATE -en nl HP:0030956 IAO:0000115 An anomaly of the electrical conduction physiology of the heart An anomaly of the electrical conduction physiology of the heart NOT_TRANSLATED -en nl HP:0030957 rdfs:label Ventricular septal aneurysm Ventriculaire septum aneurysma CANDIDATE -en nl HP:0030957 IAO:0000115 A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion NOT_TRANSLATED -en nl HP:0030958 rdfs:label Membranous ventricular septal aneurysm Membraneus ventriculaire septum aneurysma CANDIDATE -en nl HP:0030958 IAO:0000115 Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) NOT_TRANSLATED -en nl HP:0030959 rdfs:label Muscular ventricular septal aneurysm Musculaire ventriculaire septum aneurysma CANDIDATE -en nl HP:0030959 IAO:0000115 Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) NOT_TRANSLATED -en nl HP:0030961 rdfs:label Microspherophakia Microsferofakie CANDIDATE -en nl HP:0030961 IAO:0000115 Lens of the eye is smaller than normal and spherically shaped Lens of the eye is smaller than normal and spherically shaped NOT_TRANSLATED -en nl HP:0030962 rdfs:label Abnormal morphology of the great vessels Afwijkende morfologie van de grote vaten CANDIDATE -en nl HP:0030962 IAO:0000115 A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta NOT_TRANSLATED -en nl HP:0030964 rdfs:label Abnormal aortic physiology Afwijkende fysiologie van aorta CANDIDATE -en nl HP:0030965 rdfs:label Aortic stiffness Stijfheid van aorta CANDIDATE -en nl HP:0030965 IAO:0000115 The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension NOT_TRANSLATED -en nl HP:0030966 rdfs:label Abnormal pulmonary artery morphology Afwijkende arteria pulmonalis morfologie CANDIDATE -en nl HP:0030966 IAO:0000115 An abnormality of the structure of the pulmonary artery An abnormality of the structure of the pulmonary artery NOT_TRANSLATED -en nl HP:0030967 rdfs:label Abnormal pulmonary artery physiology Afwijkende arteria pulmonalis fysiologie CANDIDATE -en nl HP:0030967 IAO:0000115 An abnormality of the function of the pulmonary artery An abnormality of the function of the pulmonary artery NOT_TRANSLATED -en nl HP:0030968 rdfs:label Abnormal pulmonary vein morphology Afwijkende vena pulmonalis morfologie CANDIDATE -en nl HP:0030968 IAO:0000115 An abnormality of the structure of the pulmonary veins An abnormality of the structure of the pulmonary veins NOT_TRANSLATED -en nl HP:0030969 rdfs:label Abnormal pulmonary vein physiology Afwijkende vena pulmonalis fysiologie CANDIDATE -en nl HP:0030969 IAO:0000115 An abnormality of the function of the pulmonary veins An abnormality of the function of the pulmonary veins NOT_TRANSLATED -en nl HP:0030970 rdfs:label Abnormal vena cava physiology Afwijkende vena cava fysiologie CANDIDATE -en nl HP:0030970 IAO:0000115 An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava NOT_TRANSLATED -en nl HP:0030972 rdfs:label Abnormal systemic blood pressure Afwijkende systemische bloeddruk CANDIDATE -en nl HP:0030972 IAO:0000115 A chronic deviation from normal pressure in the systemic arterial system A chronic deviation from normal pressure in the systemic arterial system NOT_TRANSLATED -en nl HP:0030973 rdfs:label Postexertional symptom exacerbation Post-exertionele malaise CANDIDATE -en nl HP:0030973 IAO:0000115 Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse NOT_TRANSLATED -en nl HP:0030974 rdfs:label Cryptozoospermia Cryptozoospermie CANDIDATE -en nl HP:0030974 IAO:0000115 A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out) A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out) NOT_TRANSLATED -en nl HP:0030975 rdfs:label Pontine tegmental cap Pontine tegmental cap NOT_TRANSLATED -en nl HP:0030975 IAO:0000115 An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle NOT_TRANSLATED -en nl HP:0030976 rdfs:label Abnormal factor VIII activity Afwijkende activiteit van factor VIII CANDIDATE -en nl HP:0030976 IAO:0000115 A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X NOT_TRANSLATED -en nl HP:0030977 rdfs:label Increased factor VIII activity Toegenomen activiteit van factor VIII CANDIDATE -en nl HP:0030977 IAO:0000115 Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X NOT_TRANSLATED -en nl HP:0030978 rdfs:label Decreased CSF/serum albumin ratio Afgenomen liquor/serum albumine ratio CANDIDATE -en nl HP:0030978 IAO:0000115 A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration NOT_TRANSLATED -en nl HP:0030979 rdfs:label Dilatation of large choroidal vessels Dilatatie van de grote choroïdale vaten CANDIDATE -en nl HP:0030979 IAO:0000115 Enlargement of the large blood vessels in the choroid Enlargement of the large blood vessels in the choroid NOT_TRANSLATED -en nl HP:0030980 rdfs:label Reduced brain glutamine level by MRS Afgenomen brein glutamine niveau met MRS CANDIDATE -en nl HP:0030980 IAO:0000115 An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0030981 rdfs:label Abnormal CSF/serum albumin ratio Afwijkend liquor/serum albumine ratio CANDIDATE -en nl HP:0030981 IAO:0000115 A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF NOT_TRANSLATED -en nl HP:0030983 rdfs:label Ovarian thecoma Ovarieel thecoom CANDIDATE -en nl HP:0030983 IAO:0000115 A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types NOT_TRANSLATED -en nl HP:0030984 rdfs:label Abnormal serum bile acid concentration Afwijkende concentratie serum galzuur CANDIDATE -en nl HP:0030984 IAO:0000115 A deviation from the normal concentration of serum bile acid concentration A deviation from the normal concentration of serum bile acid concentration NOT_TRANSLATED -en nl HP:0030985 rdfs:label Decreased serum bile acid concentration Afgenomen serum gal concentratie CANDIDATE -en nl HP:0030985 IAO:0000115 A reduction in the concentration of bile acid in the blood A reduction in the concentration of bile acid in the blood NOT_TRANSLATED -en nl HP:0030986 rdfs:label Biliary epithelial hyperplasia Biliaire epitheliale hyperplasie CANDIDATE -en nl HP:0030986 IAO:0000115 Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen NOT_TRANSLATED -en nl HP:0030987 rdfs:label Suppurative cholangitis Suppuratieve cholangitis CANDIDATE -en nl HP:0030987 IAO:0000115 Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess) Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess) NOT_TRANSLATED -en nl HP:0030988 rdfs:label Granulomatous cholangitis Granulomateuze cholangitis CANDIDATE -en nl HP:0030988 IAO:0000115 Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts NOT_TRANSLATED -en nl HP:0030989 rdfs:label Lymphoid cholangitis Lymfoïde cholangitis CANDIDATE -en nl HP:0030989 IAO:0000115 Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement NOT_TRANSLATED -en nl HP:0030990 rdfs:label Pleomorphic cholangitis Pleomorfe cholangitis CANDIDATE -en nl HP:0030990 IAO:0000115 Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree NOT_TRANSLATED -en nl HP:0030991 rdfs:label Sclerosing cholangitis Scleroserende cholangitis CANDIDATE -en nl HP:0030991 IAO:0000115 Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative NOT_TRANSLATED -en nl HP:0030992 rdfs:label Abnormal pancreatic duct morphology Afwijkende ductus pancreaticus morfologie CANDIDATE -en nl HP:0030992 IAO:0000115 Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum NOT_TRANSLATED -en nl HP:0030993 rdfs:label Duplication of pancreatic duct Duplicatie van ductus pancreaticus CANDIDATE -en nl HP:0030993 IAO:0000115 A congenital anomaly characterized by the presence of two separate pancreatic ducts A congenital anomaly characterized by the presence of two separate pancreatic ducts NOT_TRANSLATED -en nl HP:0030994 rdfs:label Pancreas divisum Pancreas divisum CANDIDATE -en nl HP:0030994 IAO:0000115 A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present NOT_TRANSLATED -en nl HP:0030995 rdfs:label Peritoneal effusion Peritoneale effusie CANDIDATE -en nl HP:0030995 IAO:0000115 An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen) An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen) NOT_TRANSLATED -en nl HP:0030996 rdfs:label Megaduodenum Megaduodenum CANDIDATE -en nl HP:0030996 IAO:0000115 Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum NOT_TRANSLATED -en nl HP:0030997 rdfs:label Atretic vas deferens Atretisch vas deferens CANDIDATE -en nl HP:0030997 IAO:0000115 Abnormal closure or blockage of the vas deferens Abnormal closure or blockage of the vas deferens NOT_TRANSLATED -en nl HP:0030998 rdfs:label Cerebrospinal fluid rhinorrhoea Liquor rhinorrhoe CANDIDATE -en nl HP:0030998 IAO:0000115 Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose NOT_TRANSLATED -en nl HP:0030999 rdfs:label Abnormal vestibular saccule morphology Abnormale vestibulaire sacculus morfologie CANDIDATE -en nl HP:0030999 IAO:0000115 Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement) Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement) NOT_TRANSLATED -en nl HP:0031000 rdfs:label Vestibular saccular degeneration Vestibulaire sacculus degeneratie CANDIDATE -en nl HP:0031000 IAO:0000115 Deterioration or loss of the tissues of the saccule of the vestibule Deterioration or loss of the tissues of the saccule of the vestibule NOT_TRANSLATED -en nl HP:0031001 rdfs:label Minifascicle formation Minifascicle formation NOT_TRANSLATED -en nl HP:0031001 IAO:0000115 A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle NOT_TRANSLATED -en nl HP:0031002 rdfs:label Neuritis Neuritis CANDIDATE -en nl HP:0031002 IAO:0000115 Inflammation of a nerve Inflammation of a nerve NOT_TRANSLATED -en nl HP:0031003 rdfs:label Polyneuritis Polyneuritis CANDIDATE -en nl HP:0031003 IAO:0000115 Simulataneous inflammation of multiple nerves Simulataneous inflammation of multiple nerves NOT_TRANSLATED -en nl HP:0031004 rdfs:label Hemiareflexia Hemi-areflexie CANDIDATE -en nl HP:0031004 IAO:0000115 Areflexia that is limited to one side of the body Areflexia that is limited to one side of the body NOT_TRANSLATED -en nl HP:0031006 rdfs:label Acroparesthesia Acroparesthesie CANDIDATE -en nl HP:0031006 IAO:0000115 A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes NOT_TRANSLATED -en nl HP:0031007 rdfs:label Orofacial action-specific dystonia induced by speech Orofaciale actie-specifieke dystonie uitgelokt door spraak CANDIDATE -en nl HP:0031008 rdfs:label Lingual dystonia Linguale dystonie CANDIDATE -en nl HP:0031008 IAO:0000115 Involuntary protrusions, movements, spams and contortions of the tongue Involuntary protrusions, movements, spams and contortions of the tongue NOT_TRANSLATED -en nl HP:0031009 rdfs:label Ainhum Ainhum CANDIDATE -en nl HP:0031009 IAO:0000115 Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation NOT_TRANSLATED -en nl HP:0031010 rdfs:label Hyperphalangy of the 3rd finger Hyperfalangie van de 3e vinger CANDIDATE -en nl HP:0031010 IAO:0000115 An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint NOT_TRANSLATED -en nl HP:0031011 rdfs:label Fatty streak Fatty streak CANDIDATE -en nl HP:0031011 IAO:0000115 Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV NOT_TRANSLATED -en nl HP:0031012 rdfs:label Thin-cap fibroatheroma Fibroatheroom met dunne kap CANDIDATE -en nl HP:0031012 IAO:0000115 Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis NOT_TRANSLATED -en nl HP:0031013 rdfs:label Ankylosis Ankylose CANDIDATE -en nl HP:0031013 IAO:0000115 A reduction of joint mobility resulting from changes involving the articular surfaces A reduction of joint mobility resulting from changes involving the articular surfaces NOT_TRANSLATED -en nl HP:0031014 rdfs:label Arteria lusoria Arteria lusoria CANDIDATE -en nl HP:0031014 IAO:0000115 Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria NOT_TRANSLATED -en nl HP:0031015 rdfs:label Intrahepatic portal vein sclerosis Intrahepatische vena porta sclerose CANDIDATE -en nl HP:0031015 IAO:0000115 Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices NOT_TRANSLATED -en nl HP:0031016 rdfs:label Alternating radiolucent and radiodense metaphyseal lines Alternating radiolucent and radiodense metaphyseal lines NOT_TRANSLATED -en nl HP:0031016 IAO:0000115 Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra NOT_TRANSLATED -en nl HP:0031017 rdfs:label Swiss cheese atrial septal defect Swiss cheese atrial septal defect NOT_TRANSLATED -en nl HP:0031017 IAO:0000115 Multiple defects in the atrial septum Multiple defects in the atrial septum NOT_TRANSLATED -en nl HP:0031018 rdfs:label Eccrine syringofibroadenoma Eccrien syringofibroadenoom CANDIDATE -en nl HP:0031018 IAO:0000115 Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA) Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA) NOT_TRANSLATED -en nl HP:0031019 rdfs:label Pyknotic bone marrow neutrophils Pyknotische beenmerg neutrofielen CANDIDATE -en nl HP:0031019 IAO:0000115 Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments NOT_TRANSLATED -en nl HP:0031020 rdfs:label Bone marrow hypercellularity Beenmerg hypercellulariteit CANDIDATE -en nl HP:0031020 IAO:0000115 A larger than normal amount or percentage of hematopoietic cells relative to marrow fat A larger than normal amount or percentage of hematopoietic cells relative to marrow fat NOT_TRANSLATED -en nl HP:0031021 rdfs:label Squamous Papilloma Squameus papilloom CANDIDATE -en nl HP:0031021 IAO:0000115 A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus] A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus] NOT_TRANSLATED -en nl HP:0031022 rdfs:label Oropharyngeal squamous papilloma Oropharyngeal squamous papilloma NOT_TRANSLATED -en nl HP:0031022 IAO:0000115 A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus] A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus] NOT_TRANSLATED -en nl HP:0031023 rdfs:label Multiple mucosal neuromas Multipele mucosale neuromen CANDIDATE -en nl HP:0031023 IAO:0000115 Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath NOT_TRANSLATED -en nl HP:0031024 rdfs:label Cylindroma Cylindroom CANDIDATE -en nl HP:0031024 IAO:0000115 A benign skin adnexal tumor of eccrine differentiation A benign skin adnexal tumor of eccrine differentiation NOT_TRANSLATED -en nl HP:0031025 rdfs:label Gastric leiomyosarcoma Gastrisch leiomyosarcoom CANDIDATE -en nl HP:0031025 IAO:0000115 A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible NOT_TRANSLATED -en nl HP:0031026 rdfs:label Snail-like ilia Snail-like ilia NOT_TRANSLATED -en nl HP:0031026 IAO:0000115 The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature NOT_TRANSLATED -en nl HP:0031027 rdfs:label Internal notch of the femoral head Internal notch of the femoral head NOT_TRANSLATED -en nl HP:0031027 IAO:0000115 A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546 A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546 NOT_TRANSLATED -en nl HP:0031028 rdfs:label Lactescent serum Lactescent serum NOT_TRANSLATED -en nl HP:0031028 IAO:0000115 Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level NOT_TRANSLATED -en nl HP:0031029 rdfs:label Elevated carcinoembryonic antigen level Verhoogd carcinoembryonisch antigeen niveau CANDIDATE -en nl HP:0031029 IAO:0000115 An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker NOT_TRANSLATED -en nl HP:0031030 rdfs:label Elevated carcinoma antigen 125 level Verhoogd carcinoom antigeen 125 niveau CANDIDATE -en nl HP:0031030 IAO:0000115 An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer NOT_TRANSLATED -en nl HP:0031031 rdfs:label Abnormal retinol-binding protein level Afwijkend retinol-bindend eiwit niveau CANDIDATE -en nl HP:0031031 IAO:0000115 A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol NOT_TRANSLATED -en nl HP:0031032 rdfs:label Decreased retinol-binding protein level Afgenomen retinol-bindend eiwit niveau CANDIDATE -en nl HP:0031032 IAO:0000115 A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity NOT_TRANSLATED -en nl HP:0031033 rdfs:label Impaired urinary acidification Impaired urinary acidification NOT_TRANSLATED -en nl HP:0031033 IAO:0000115 The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect NOT_TRANSLATED -en nl HP:0031034 rdfs:label Abnormal insulin like growth factor binding protein acid labile subunit level Abnormal insulin like growth factor binding protein acid labile subunit level NOT_TRANSLATED -en nl HP:0031034 IAO:0000115 A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier NOT_TRANSLATED -en nl HP:0031035 rdfs:label Chronic infection Chronische infecite CANDIDATE -en nl HP:0031035 IAO:0000115 Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection NOT_TRANSLATED -en nl HP:0031036 rdfs:label Reduced growth-hormone binding protein level Afgenomen groeihormoon bindend eiwit niveau CANDIDATE -en nl HP:0031036 IAO:0000115 A decreased blood concentration of growth hormone binding protein A decreased blood concentration of growth hormone binding protein NOT_TRANSLATED -en nl HP:0031037 rdfs:label Reduced insulin-like factor 3 level Afgenomen insuline-like factor 3 niveau CANDIDATE -en nl HP:0031037 IAO:0000115 Blood concentration of insulin-like factor 3 (ILF3) is below normal limits Blood concentration of insulin-like factor 3 (ILF3) is below normal limits NOT_TRANSLATED -en nl HP:0031038 rdfs:label Spermatogenesis maturation arrest Spermatogenesis maturation arrest NOT_TRANSLATED -en nl HP:0031038 IAO:0000115 Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa NOT_TRANSLATED -en nl HP:0031039 rdfs:label Early spermatogenesis maturation arrest Early spermatogenesis maturation arrest NOT_TRANSLATED -en nl HP:0031039 IAO:0000115 A type of maturation arrest in which only spermatogonia or spermatocytes are found A type of maturation arrest in which only spermatogonia or spermatocytes are found NOT_TRANSLATED -en nl HP:0031040 rdfs:label Late spermatogenesis maturation arrest Late spermatogenesis maturation arrest NOT_TRANSLATED -en nl HP:0031040 IAO:0000115 A type of maturation arrest in which spermatids are detected without spermatozoa A type of maturation arrest in which spermatids are detected without spermatozoa NOT_TRANSLATED -en nl HP:0031041 rdfs:label Obstruction of the superior vena cava Obstructie van de vena cava superior CANDIDATE -en nl HP:0031041 IAO:0000115 Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction NOT_TRANSLATED -en nl HP:0031042 rdfs:label Strawberry tongue Aardbeientong CANDIDATE -en nl HP:0031042 IAO:0000115 Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry NOT_TRANSLATED -en nl HP:0031043 rdfs:label Type A4 brachydactyly Type A4 brachydactylie CANDIDATE -en nl HP:0031043 IAO:0000115 A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits NOT_TRANSLATED -en nl HP:0031044 rdfs:label Type A5 brachydactyly Type A5 brachydactylie CANDIDATE -en nl HP:0031044 IAO:0000115 A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5 A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5 NOT_TRANSLATED -en nl HP:0031045 rdfs:label Acral blistering Acrale blaarvorming CANDIDATE -en nl HP:0031045 IAO:0000115 Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet) Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet) NOT_TRANSLATED -en nl HP:0031046 rdfs:label Absent soft palate Afwezig zacht gehemelte CANDIDATE -en nl HP:0031046 IAO:0000115 A developmental defect characterized by lack of a soft palate A developmental defect characterized by lack of a soft palate NOT_TRANSLATED -en nl HP:0031047 rdfs:label Paraproteinemia Paraproteinemie CANDIDATE -en nl HP:0031047 IAO:0000115 An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED -en nl HP:0031048 rdfs:label Light-chain paraproteinemia Lichte-keten paraproteïnemie CANDIDATE -en nl HP:0031048 IAO:0000115 An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED -en nl HP:0031049 rdfs:label Heavy-chain paraproteinemia Heavy-chain paraproteinemia NOT_TRANSLATED -en nl HP:0031049 IAO:0000115 An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED -en nl HP:0031050 rdfs:label Whole-immunoglobulin paraproteinemia Whole-immunoglobulin paraproteinemia NOT_TRANSLATED -en nl HP:0031050 IAO:0000115 An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED -en nl HP:0031051 rdfs:label Tarsal sclerosis Tarsale sclerose CANDIDATE -en nl HP:0031051 IAO:0000115 An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED -en nl HP:0031052 rdfs:label Elevated vascular endothelial growth factor level Elevated vascular endothelial growth factor level NOT_TRANSLATED -en nl HP:0031052 IAO:0000115 Increased blood concentration of vascular endothelial growth factor (VEGF) Increased blood concentration of vascular endothelial growth factor (VEGF) NOT_TRANSLATED -en nl HP:0031053 rdfs:label Coarctation in the transverse aortic arch Coarctation in the transverse aortic arch NOT_TRANSLATED -en nl HP:0031053 IAO:0000115 Narrowing or constriction of the aorta localized to the region of the transverse aortic arch Narrowing or constriction of the aorta localized to the region of the transverse aortic arch NOT_TRANSLATED -en nl HP:0031054 rdfs:label Long segment coarctation of the aorta Long segment coarctation of the aorta NOT_TRANSLATED -en nl HP:0031054 IAO:0000115 Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta NOT_TRANSLATED -en nl HP:0031055 rdfs:label Abnormal branching pattern of left aortic arch Abnormal branching pattern of left aortic arch NOT_TRANSLATED -en nl HP:0031055 IAO:0000115 A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch) A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch) NOT_TRANSLATED -en nl HP:0031056 rdfs:label Fusiform cerebral aneurysm Fusiform cerebraal aneurysma CANDIDATE -en nl HP:0031056 IAO:0000115 A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery NOT_TRANSLATED -en nl HP:0031057 rdfs:label Skin fissure Huid fissuur CANDIDATE -en nl HP:0031057 IAO:0000115 A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis NOT_TRANSLATED -en nl HP:0031058 rdfs:label Impairment of activities of daily living Stoornis van activiteiten van dagelijks leven CANDIDATE -en nl HP:0031058 IAO:0000115 Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure NOT_TRANSLATED -en nl HP:0031059 rdfs:label Impaired ability to bathe oneself Verminderd vermogen om zich te wassen CANDIDATE -en nl HP:0031059 IAO:0000115 This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing NOT_TRANSLATED -en nl HP:0031060 rdfs:label Impaired ability to dress oneself Verminderd vermogen om zich te kleden CANDIDATE -en nl HP:0031060 IAO:0000115 This applies to an individual who needs help with dressing or needs to be completely dressed This applies to an individual who needs help with dressing or needs to be completely dressed NOT_TRANSLATED -en nl HP:0031061 rdfs:label Impaired toileting ability Verminderd vermogen om naar het toilet te gaan CANDIDATE -en nl HP:0031061 IAO:0000115 This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode NOT_TRANSLATED -en nl HP:0031062 rdfs:label Impaired transferring ability Verminderd vermogen om over te stappen CANDIDATE -en nl HP:0031062 IAO:0000115 Applies to an individual who needs help in moving from bed to chair or requires a complete transfer Applies to an individual who needs help in moving from bed to chair or requires a complete transfer NOT_TRANSLATED -en nl HP:0031063 rdfs:label Impaired feeding ability Verminderd vermogen om te eten CANDIDATE -en nl HP:0031063 IAO:0000115 Applies to an individual who needs partial or total help with feeding or requires parenteral feeding Applies to an individual who needs partial or total help with feeding or requires parenteral feeding NOT_TRANSLATED -en nl HP:0031064 rdfs:label Impaired continence Verminderde continentie CANDIDATE -en nl HP:0031064 IAO:0000115 Partial or total incontinence of bowel or bladder Partial or total incontinence of bowel or bladder NOT_TRANSLATED -en nl HP:0031065 rdfs:label Abnormal ovarian morphology Afwijkende ovarium morfologie CANDIDATE -en nl HP:0031066 rdfs:label Abnormal ovarian physiology Afwijkende ovarium fysiologie CANDIDATE -en nl HP:0031066 IAO:0000115 Any anomaly of ovarian function Any anomaly of ovarian function NOT_TRANSLATED -en nl HP:0031067 rdfs:label Empty ovarian follicle Lege ovariële follikel CANDIDATE -en nl HP:0031067 IAO:0000115 A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization NOT_TRANSLATED -en nl HP:0031069 rdfs:label Abnormal femoral torsion Afwijkende femorale torsie CANDIDATE -en nl HP:0031069 IAO:0000115 Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range NOT_TRANSLATED -en nl HP:0031071 rdfs:label Abnormal endocrine morphology Afwijkende endocriene morfologie CANDIDATE -en nl HP:0031071 IAO:0000115 Any anomaly of the structure of an organ ofthe endocrine system Any anomaly of the structure of an organ ofthe endocrine system NOT_TRANSLATED -en nl HP:0031072 rdfs:label Abnormal endocrine physiology Afwijkende endocriene fysiologie CANDIDATE -en nl HP:0031072 IAO:0000115 Any anomaly of the function of the endocrine system Any anomaly of the function of the endocrine system NOT_TRANSLATED -en nl HP:0031073 rdfs:label Abnormal response to endocrine stimulation test Afwijkende reactie op endocriene stimulatie test CANDIDATE -en nl HP:0031073 IAO:0000115 An anomalous response to a test that is designed to probe the function of the endocrine system An anomalous response to a test that is designed to probe the function of the endocrine system NOT_TRANSLATED -en nl HP:0031074 rdfs:label Abnormal response to ACTH stimulation test Afwijkende reactie op ACTH stimulatie test CANDIDATE -en nl HP:0031074 IAO:0000115 An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline NOT_TRANSLATED -en nl HP:0031075 rdfs:label Abnormal response to insulin tolerance test Afwijkende reactie op insuline tolerantie test CANDIDATE -en nl HP:0031075 IAO:0000115 An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level NOT_TRANSLATED -en nl HP:0031076 rdfs:label Impaired cortisol response to insulin stimulation test Verminderde cortisol reactie op insuline stimulatie test CANDIDATE -en nl HP:0031076 IAO:0000115 Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT) Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT) NOT_TRANSLATED -en nl HP:0031077 rdfs:label Abnormal response to corticotropin releasing hormone stimulation test Afwijkende reactie op corticotropine-releasing-hormoon stimulatie test CANDIDATE -en nl HP:0031077 IAO:0000115 An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals NOT_TRANSLATED -en nl HP:0031078 rdfs:label Impaired cortisol response to corticotropin releasing hormone stimulation test Verminderde cortisol reactie op corticotropine-releasing-hormoon stimulatie test CANDIDATE -en nl HP:0031078 IAO:0000115 Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test NOT_TRANSLATED -en nl HP:0031079 rdfs:label Impaired growth-hormone response to insulin stimulation test Verminderde groeihormoon reactie op insuline stimulatie test CANDIDATE -en nl HP:0031079 IAO:0000115 Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT) Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT) NOT_TRANSLATED -en nl HP:0031080 rdfs:label Abnormal response to glucagon stimulation test Afwijkende reactie op glucagon stimulatie test CANDIDATE -en nl HP:0031080 IAO:0000115 An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH) An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH) NOT_TRANSLATED -en nl HP:0031081 rdfs:label Impaired cortisol response to glucagon stimulation test Verminderde cortisol reactie op glucagon stimulatie test CANDIDATE -en nl HP:0031081 IAO:0000115 Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test NOT_TRANSLATED -en nl HP:0031082 rdfs:label Impaired growth-hormone response to glucagon stimulation test Verminderde groeihormoon reactie op glucagon stimulatie test CANDIDATE -en nl HP:0031082 IAO:0000115 Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test NOT_TRANSLATED -en nl HP:0031083 rdfs:label Abnormal response to human chorionic gonadotrophin stimulation test Abnormal response to human chorionic gonadotrophin stimulation test NOT_TRANSLATED -en nl HP:0031083 IAO:0000115 An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors NOT_TRANSLATED -en nl HP:0031084 rdfs:label Excessive insulin response to glucagon test Overmatige insuline reactie op glucagon test CANDIDATE -en nl HP:0031084 IAO:0000115 An abnormally high increase in insulin levels following a glucagon stimulation test An abnormally high increase in insulin levels following a glucagon stimulation test NOT_TRANSLATED -en nl HP:0031085 rdfs:label Decreased prealbumin level Verlaagd prealbumine niveau CANDIDATE -en nl HP:0031085 IAO:0000115 A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status NOT_TRANSLATED -en nl HP:0031086 rdfs:label Ectopic ovary Ectopisch ovarium CANDIDATE -en nl HP:0031086 IAO:0000115 Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels NOT_TRANSLATED -en nl HP:0031087 rdfs:label Absent pubertal growth spurt Afwezige puberale groeispurt CANDIDATE -en nl HP:0031087 IAO:0000115 The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur NOT_TRANSLATED -en nl HP:0031088 rdfs:label Vaginal dryness Vaginale droogheid CANDIDATE -en nl HP:0031088 IAO:0000115 Persistent vaginal dryness Persistent vaginal dryness NOT_TRANSLATED -en nl HP:0031089 rdfs:label Palatal edema Palataal oedeem CANDIDATE -en nl HP:0031089 IAO:0000115 Swelling related to fluid accumulation within the palate Swelling related to fluid accumulation within the palate NOT_TRANSLATED -en nl HP:0031090 rdfs:label Finger dactylitis Vinger dactylitis CANDIDATE -en nl HP:0031090 IAO:0000115 Fingers appear swollen and plump owing to inflammation of the complete finger Fingers appear swollen and plump owing to inflammation of the complete finger NOT_TRANSLATED -en nl HP:0031091 rdfs:label Toe dactylitis Teen dactylitis CANDIDATE -en nl HP:0031091 IAO:0000115 Toes appear swollen and plump owing to inflammation of the complete toe Toes appear swollen and plump owing to inflammation of the complete toe NOT_TRANSLATED -en nl HP:0031092 rdfs:label Spindle-shaped finger Spindel-vormige vinger CANDIDATE -en nl HP:0031092 IAO:0000115 Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base) Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base) NOT_TRANSLATED -en nl HP:0031093 rdfs:label Abnormal breast morphology Afwijkende borst morfologie CANDIDATE -en nl HP:0031093 IAO:0000115 Any anomaly of the structure of the breast Any anomaly of the structure of the breast NOT_TRANSLATED -en nl HP:0031094 rdfs:label Abnormal breast physiology Afwijkende borst fysiologie CANDIDATE -en nl HP:0031094 IAO:0000115 Any anomaly of the function of the breast Any anomaly of the function of the breast NOT_TRANSLATED -en nl HP:0031095 rdfs:label Abnormal humerus morphology Afwijkende humerus morfologie CANDIDATE -en nl HP:0031095 IAO:0000115 Any anomaly of the structure of the humerus Any anomaly of the structure of the humerus NOT_TRANSLATED -en nl HP:0031096 rdfs:label Delayed vertebral ossification Vertraagde vertebrale ossificatie CANDIDATE -en nl HP:0031096 IAO:0000115 A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age NOT_TRANSLATED -en nl HP:0031097 rdfs:label Abnormal thyroid-stimulating hormone level Afwijkend TSH niveau CANDIDATE -en nl HP:0031097 IAO:0000115 Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland NOT_TRANSLATED -en nl HP:0031098 rdfs:label Decreased thyroid-stimulating hormone level Afgenomen TSH niveau CANDIDATE -en nl HP:0031098 IAO:0000115 Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland NOT_TRANSLATED -en nl HP:0031099 rdfs:label Abnormal circulating inhibin level Afwijkend circulerend inhibine niveau CANDIDATE -en nl HP:0031099 IAO:0000115 Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone NOT_TRANSLATED -en nl HP:0031100 rdfs:label Decreased inhibin B level Verlaagd inhibine B niveau CANDIDATE -en nl HP:0031100 IAO:0000115 A reduced concentration of inhibin B in the blood A reduced concentration of inhibin B in the blood NOT_TRANSLATED -en nl HP:0031101 rdfs:label Abnormal circulating antimullerian hormone concentration Afwijkend Anti-Müller-Hormoon niveau CANDIDATE -en nl HP:0031101 IAO:0000115 Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases NOT_TRANSLATED -en nl HP:0031102 rdfs:label Increased antimullerian hormone level Toegenomen Anti-Müller-Hormoon niveau CANDIDATE -en nl HP:0031102 IAO:0000115 An elevation above the normal range of the antimullerian hormone in the circulation An elevation above the normal range of the antimullerian hormone in the circulation NOT_TRANSLATED -en nl HP:0031103 rdfs:label Decreased antimullerian hormone level Afgenomen Anti-Müller-Hormoon niveau CANDIDATE -en nl HP:0031103 IAO:0000115 A reduction below the normal range of the antimullerian hormone in the circulation A reduction below the normal range of the antimullerian hormone in the circulation NOT_TRANSLATED -en nl HP:0031104 rdfs:label Insulin receptor antibody positivity Insuline receptor antistof positiviteit CANDIDATE -en nl HP:0031104 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor NOT_TRANSLATED -en nl HP:0031105 rdfs:label Abnormal uterus morphology Afwijkende uterus morfologie CANDIDATE -en nl HP:0031105 IAO:0000115 Any anomaly of the structure of the uterus Any anomaly of the structure of the uterus NOT_TRANSLATED -en nl HP:0031106 rdfs:label T-shaped uterus T-vormige uterus CANDIDATE -en nl HP:0031106 IAO:0000115 An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging NOT_TRANSLATED -en nl HP:0031107 rdfs:label Decreased fibular diameter Afgenomen fibulaire diameter CANDIDATE -en nl HP:0031107 IAO:0000115 Reduced width of the cross sectional diameter of the fibula Reduced width of the cross sectional diameter of the fibula NOT_TRANSLATED -en nl HP:0031108 rdfs:label Triceps weakness Triceps zwakte CANDIDATE -en nl HP:0031108 IAO:0000115 A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements NOT_TRANSLATED -en nl HP:0031109 rdfs:label Agalactia Agalactie CANDIDATE -en nl HP:0031109 IAO:0000115 Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant NOT_TRANSLATED -en nl HP:0031110 rdfs:label Twin-to-twin transfusion Tweelingtransfusiesyndroom CANDIDATE -en nl HP:0031110 IAO:0000115 As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure NOT_TRANSLATED -en nl HP:0031111 rdfs:label Cutaneous hamartoma Cutaan hamartoom CANDIDATE -en nl HP:0031111 IAO:0000115 A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin NOT_TRANSLATED -en nl HP:0031117 rdfs:label Purely bicuspid aortic valve Zuivere bicuspide aortaklep CANDIDATE -en nl HP:0031117 IAO:0000115 A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis NOT_TRANSLATED -en nl HP:0031118 rdfs:label Single raphe bicuspid aortic valve Single raphe bicuspid aortic valve NOT_TRANSLATED -en nl HP:0031118 IAO:0000115 A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size NOT_TRANSLATED -en nl HP:0031119 rdfs:label Bicuspid aortic valve with right-left cusp fusion Bicuspid aortic valve with right-left cusp fusion NOT_TRANSLATED -en nl HP:0031119 IAO:0000115 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure NOT_TRANSLATED -en nl HP:0031120 rdfs:label Bicuspid aortic valve with right-noncoronary cusp fusion Bicuspid aortic valve with right-noncoronary cusp fusion NOT_TRANSLATED -en nl HP:0031120 IAO:0000115 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure NOT_TRANSLATED -en nl HP:0031121 rdfs:label Bicuspid aortic valve with left-noncoronary cusp fusion Bicuspid aortic valve with left-noncoronary cusp fusion NOT_TRANSLATED -en nl HP:0031121 IAO:0000115 A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure NOT_TRANSLATED -en nl HP:0031122 rdfs:label Two-raphe bicuspid aortic valve Two-raphe bicuspid aortic valve NOT_TRANSLATED -en nl HP:0031122 IAO:0000115 A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis NOT_TRANSLATED -en nl HP:0031123 rdfs:label Recurrent gastroenteritis Recidiverende gastro-enteritis CANDIDATE -en nl HP:0031123 IAO:0000115 Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis NOT_TRANSLATED -en nl HP:0031124 rdfs:label Decreased platelet thromboxane A2 receptor Verminderde bloedplaatje tromboxaan A2 receptor CANDIDATE -en nl HP:0031124 IAO:0000115 Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2) Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2) NOT_TRANSLATED -en nl HP:0031125 rdfs:label Decreased platelet alpha-2A-adrenergic receptor Verminderde bloedplaatje alfa-2A-adrenerge receptor CANDIDATE -en nl HP:0031125 IAO:0000115 Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine NOT_TRANSLATED -en nl HP:0031126 rdfs:label Impaired clot retraction Verminderde stolselretractie CANDIDATE -en nl HP:0031126 IAO:0000115 Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration NOT_TRANSLATED -en nl HP:0031127 rdfs:label Impaired convulxin-induced platelet aggregation Verminderde convulxine-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0031127 IAO:0000115 Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin NOT_TRANSLATED -en nl HP:0031128 rdfs:label Impaired collagen-related peptide-induced platelet aggregation Verminderde collageen-gerelateerd-eiwit-geïnduceerde bloedplaatjesaggregatie CANDIDATE -en nl HP:0031128 IAO:0000115 Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP NOT_TRANSLATED -en nl HP:0031129 rdfs:label Impaired phorbol myristate acetate-induced platelet aggregation Impaired phorbol myristate acetate-induced platelet aggregation NOT_TRANSLATED -en nl HP:0031129 IAO:0000115 Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA NOT_TRANSLATED -en nl HP:0031130 rdfs:label Impaired calcium ionophore-induced platelet aggregation Impaired calcium ionophore-induced platelet aggregation NOT_TRANSLATED -en nl HP:0031130 IAO:0000115 Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore NOT_TRANSLATED -en nl HP:0031131 rdfs:label Abnormal platelet phosphatidylserine exposure Abnormal platelet phosphatidylserine exposure NOT_TRANSLATED -en nl HP:0031131 IAO:0000115 An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement NOT_TRANSLATED -en nl HP:0031132 rdfs:label Impaired annexin V binding to platelet phosphatidylserine Impaired annexin V binding to platelet phosphatidylserine NOT_TRANSLATED -en nl HP:0031132 IAO:0000115 Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry NOT_TRANSLATED -en nl HP:0031133 rdfs:label Increased annexin V binding to platelet phosphatidylserine Increased annexin V binding to platelet phosphatidylserine NOT_TRANSLATED -en nl HP:0031133 IAO:0000115 Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry NOT_TRANSLATED -en nl HP:0031134 rdfs:label Cor triatrium sinister Cor triatrium sinister CANDIDATE -en nl HP:0031134 IAO:0000115 A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum NOT_TRANSLATED -en nl HP:0031135 rdfs:label Triggered by physical trauma Uitgelokt door fysiek trauma CANDIDATE -en nl HP:0031135 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue) Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue) NOT_TRANSLATED -en nl HP:0031136 rdfs:label Decreased acrosin in sperm head Decreased acrosin in sperm head NOT_TRANSLATED -en nl HP:0031136 IAO:0000115 A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process NOT_TRANSLATED -en nl HP:0031137 rdfs:label Storage in hepatocytes Opslag in hepatocyten CANDIDATE -en nl HP:0031137 IAO:0000115 Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material NOT_TRANSLATED -en nl HP:0031138 rdfs:label Abnormal B-type natriuretic peptide level Afwijkend B-type natriuretisch peptide niveau CANDIDATE -en nl HP:0031138 IAO:0000115 A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP) A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP) NOT_TRANSLATED -en nl HP:0031139 rdfs:label Frog-leg posture Kikkerhouding CANDIDATE -en nl HP:0031139 IAO:0000115 A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog NOT_TRANSLATED -en nl HP:0031140 rdfs:label Abnormal liver sonography Afwijkende lever echografie CANDIDATE -en nl HP:0031140 IAO:0000115 An abnormal appearance of the liver or any of its components on sonography (ultrasound) An abnormal appearance of the liver or any of its components on sonography (ultrasound) NOT_TRANSLATED -en nl HP:0031141 rdfs:label Increased hepatic echogenicity Toegenomen hepatische echogeniciteit CANDIDATE -en nl HP:0031141 IAO:0000115 Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device NOT_TRANSLATED -en nl HP:0031142 rdfs:label Abnormal hepatic echogenicity Afwijkende hepatische echogeniciteit CANDIDATE -en nl HP:0031142 IAO:0000115 Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen) Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen) NOT_TRANSLATED -en nl HP:0031143 rdfs:label Decreased hepatic echogenicity Afgenomen hepatische echogeniciteit CANDIDATE -en nl HP:0031143 IAO:0000115 Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device NOT_TRANSLATED -en nl HP:0031144 rdfs:label Coarsened hepatic echotexture Coarsened hepatic echotexture NOT_TRANSLATED -en nl HP:0031144 IAO:0000115 The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography NOT_TRANSLATED -en nl HP:0031145 rdfs:label Starry sky appearance on hepatic sonography Starry sky appearance on hepatic sonography NOT_TRANSLATED -en nl HP:0031145 IAO:0000115 An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background) An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background) NOT_TRANSLATED -en nl HP:0031146 rdfs:label Impaired oral bolus formation Impaired oral bolus formation NOT_TRANSLATED -en nl HP:0031146 IAO:0000115 An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed NOT_TRANSLATED -en nl HP:0031150 rdfs:label Vitreomacular adhesion Vitreomaculaire adhesie CANDIDATE -en nl HP:0031150 IAO:0000115 Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions NOT_TRANSLATED -en nl HP:0031151 rdfs:label Vitreomacular traction Vitreomaculaire tractie CANDIDATE -en nl HP:0031151 IAO:0000115 Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad NOT_TRANSLATED -en nl HP:0031152 rdfs:label Full-thickness macular hole Full-thickness macular hole NOT_TRANSLATED -en nl HP:0031152 IAO:0000115 Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction NOT_TRANSLATED -en nl HP:0031153 rdfs:label Membranous vitreous appearance Membranous vitreous appearance NOT_TRANSLATED -en nl HP:0031153 IAO:0000115 Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane NOT_TRANSLATED -en nl HP:0031154 rdfs:label Beaded vitreous appearance Beaded vitreous appearance NOT_TRANSLATED -en nl HP:0031154 IAO:0000115 Vitreous humor of the eye displaying beaded bundles of irregular diameters Vitreous humor of the eye displaying beaded bundles of irregular diameters NOT_TRANSLATED -en nl HP:0031155 rdfs:label Increased Arden ratio of electrooculogram Increased Arden ratio of electrooculogram NOT_TRANSLATED -en nl HP:0031155 IAO:0000115 An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record NOT_TRANSLATED -en nl HP:0031156 rdfs:label Decreased platelet glycoprotein Ib Verminderde bloedplaatje glycoproteïne Ib CANDIDATE -en nl HP:0031156 IAO:0000115 Decreased platelet cell membrane concentration of glycoprotein Ib Decreased platelet cell membrane concentration of glycoprotein Ib NOT_TRANSLATED -en nl HP:0031157 rdfs:label Carotid cavernous fistula Carotid cavernous fistula NOT_TRANSLATED -en nl HP:0031157 IAO:0000115 An abnormal connection between a carotid artery and the cavernous sinus An abnormal connection between a carotid artery and the cavernous sinus NOT_TRANSLATED -en nl HP:0031158 rdfs:label Widened atrophic scar Verbreed atrofisch litteken CANDIDATE -en nl HP:0031158 IAO:0000115 An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility NOT_TRANSLATED -en nl HP:0031159 rdfs:label Thinning of Descemet membrane Verdunning van de membraan van Descemet CANDIDATE -en nl HP:0031159 IAO:0000115 A reduction in the thickness of Descemet's membrane A reduction in the thickness of Descemet's membrane NOT_TRANSLATED -en nl HP:0031160 rdfs:label Myelokathexis Myelokathexis CANDIDATE -en nl HP:0031160 IAO:0000115 Impaired egress of mature neutrophils from bone marrow causing neutropenia Impaired egress of mature neutrophils from bone marrow causing neutropenia NOT_TRANSLATED -en nl HP:0031161 rdfs:label Reduced brain glutamate level by MRS Afgenomen brein glutamaat niveau met MRS CANDIDATE -en nl HP:0031161 IAO:0000115 An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS) An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED -en nl HP:0031162 rdfs:label Impaired oropharyngeal swallow response Impaired oropharyngeal swallow response NOT_TRANSLATED -en nl HP:0031162 IAO:0000115 Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars NOT_TRANSLATED -en nl HP:0031163 rdfs:label Low femoral bone density Lage femorale botdichtheid CANDIDATE -en nl HP:0031163 IAO:0000115 Reduced bone mineral density of the femur Reduced bone mineral density of the femur NOT_TRANSLATED -en nl HP:0031164 rdfs:label Growth arrest lines Growth arrest lines NOT_TRANSLATED -en nl HP:0031164 IAO:0000115 Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone NOT_TRANSLATED -en nl HP:0031165 rdfs:label Multifocal seizures Multifocale aanvallen CANDIDATE -en nl HP:0031165 IAO:0000115 Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations) Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations) NOT_TRANSLATED -en nl HP:0031166 rdfs:label Eyelid myokymia Ooglid myokymie CANDIDATE -en nl HP:0031166 IAO:0000115 Involuntary, fine, continuous, undulating contractions of the eyelid Involuntary, fine, continuous, undulating contractions of the eyelid NOT_TRANSLATED -en nl HP:0031167 rdfs:label Triggered by ingestion of potassium-rich food Uitgelokt door inname van kalium-rijk voedsel CANDIDATE -en nl HP:0031167 IAO:0000115 Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium NOT_TRANSLATED -en nl HP:0031169 rdfs:label Postterm pregnancy Post terme zwangerschap CANDIDATE -en nl HP:0031169 IAO:0000115 A pregnancy that extends to 42 weeks of gestation or beyond A pregnancy that extends to 42 weeks of gestation or beyond NOT_TRANSLATED -en nl HP:0031170 rdfs:label Female fetal virilization Vrouwelijke foetale virilisatie CANDIDATE -en nl HP:0031170 IAO:0000115 Fetal masculinization of female external genitalia Fetal masculinization of female external genitalia NOT_TRANSLATED -en nl HP:0031171 rdfs:label Femoral spur Femoral spur NOT_TRANSLATED -en nl HP:0031171 IAO:0000115 A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck NOT_TRANSLATED -en nl HP:0031172 rdfs:label Sectoral retinitis pigmentosa Sectorale retinitis pigmentosa CANDIDATE -en nl HP:0031172 IAO:0000115 A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration NOT_TRANSLATED -en nl HP:0031173 rdfs:label Tibial spur Uitloper van de tibia CANDIDATE -en nl HP:0031173 IAO:0000115 A bony projection (spur, osteophyte) originating from the tibia A bony projection (spur, osteophyte) originating from the tibia NOT_TRANSLATED -en nl HP:0031174 rdfs:label Double-layered patella Dubbelgelaagde patella CANDIDATE -en nl HP:0031174 IAO:0000115 An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood NOT_TRANSLATED -en nl HP:0031175 rdfs:label Absent cervical vertebra Afwezige cervicale wervel CANDIDATE -en nl HP:0031175 IAO:0000115 A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine NOT_TRANSLATED -en nl HP:0031176 rdfs:label Absent thoracic vertebra Afwezige thoracale wervel CANDIDATE -en nl HP:0031176 IAO:0000115 A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine NOT_TRANSLATED -en nl HP:0031177 rdfs:label Finger flexor weakness Vinger flexor zwakte CANDIDATE -en nl HP:0031177 IAO:0000115 Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion NOT_TRANSLATED -en nl HP:0031178 rdfs:label Fixed head retroflexion Fixed head retroflexion NOT_TRANSLATED -en nl HP:0031178 IAO:0000115 Head is bent in the posterior direction in a permanent fashion Head is bent in the posterior direction in a permanent fashion NOT_TRANSLATED -en nl HP:0031179 rdfs:label Nuchal rigidity Nuchal rigidity NOT_TRANSLATED -en nl HP:0031179 IAO:0000115 Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated NOT_TRANSLATED -en nl HP:0031180 rdfs:label Erythema migrans Erythema migrans CANDIDATE -en nl HP:0031180 IAO:0000115 An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter) An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter) NOT_TRANSLATED -en nl HP:0031181 rdfs:label Necrolytic migratory erythema Migrerend necrotiserend erytheem CANDIDATE -en nl HP:0031181 IAO:0000115 Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution NOT_TRANSLATED -en nl HP:0031185 rdfs:label Increased circulating NT-proBNP concentration Verhoogd NT-proBNP niveau CANDIDATE -en nl HP:0031185 IAO:0000115 An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP) An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP) NOT_TRANSLATED -en nl HP:0031186 rdfs:label Abnormal circulating deoxycorticosterone level Abnormal circulating deoxycorticosterone level NOT_TRANSLATED -en nl HP:0031186 IAO:0000115 An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone NOT_TRANSLATED -en nl HP:0031187 rdfs:label Abnormal circulating pregnenolone concentration Afwijking van circulerend pregnenolon niveau CANDIDATE -en nl HP:0031187 IAO:0000115 An abnormality of the concentration of pregnenolone in the blood An abnormality of the concentration of pregnenolone in the blood NOT_TRANSLATED -en nl HP:0031188 rdfs:label Genital edema Genitaal oedeem CANDIDATE -en nl HP:0031188 IAO:0000115 A buildup of fluid that causes swelling in the soft tissues of the genital area A buildup of fluid that causes swelling in the soft tissues of the genital area NOT_TRANSLATED -en nl HP:0031189 rdfs:label Wrist drop Wrist drop NOT_TRANSLATED -en nl HP:0031189 IAO:0000115 A condition in which the affected individual cannot extend the wrist, which hangs flaccidly A condition in which the affected individual cannot extend the wrist, which hangs flaccidly NOT_TRANSLATED -en nl HP:0031190 rdfs:label Superficial dermal perivascular inflammatory infiltrate Superficieel dermaal perivasculair ontstekingsinfiltraat CANDIDATE -en nl HP:0031190 IAO:0000115 Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis NOT_TRANSLATED -en nl HP:0031191 rdfs:label Deep dermal perivascular inflammatory infiltrate Diep dermaal perivasculair ontstekingsinfiltraat CANDIDATE -en nl HP:0031191 IAO:0000115 Numerous lymphocytes surrounding blood vessels in the deep part of the dermis Numerous lymphocytes surrounding blood vessels in the deep part of the dermis NOT_TRANSLATED -en nl HP:0031192 rdfs:label Abnormal morphology of left ventricular trabeculae Abnormal morphology of left ventricular trabeculae NOT_TRANSLATED -en nl HP:0031192 IAO:0000115 Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae) Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED -en nl HP:0031193 rdfs:label Abnormal morphology of right ventricular trabeculae Abnormal morphology of right ventricular trabeculae NOT_TRANSLATED -en nl HP:0031193 IAO:0000115 Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae) Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED -en nl HP:0031194 rdfs:label Increased density of left ventricular trabeculae Increased density of left ventricular trabeculae NOT_TRANSLATED -en nl HP:0031194 IAO:0000115 An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae) An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED -en nl HP:0031195 rdfs:label Apical hypertrabeculation of the left ventricle Apicale hypertrabeculatie van de linkerventrikel CANDIDATE -en nl HP:0031195 IAO:0000115 An increased number and density of the trabeculae in the apex (tip) of the left ventricle An increased number and density of the trabeculae in the apex (tip) of the left ventricle NOT_TRANSLATED -en nl HP:0031196 rdfs:label Thin myocardium compact layer Thin myocardium compact layer NOT_TRANSLATED -en nl HP:0031196 IAO:0000115 Reduced thickness of the outer, dense layer of the myocardium Reduced thickness of the outer, dense layer of the myocardium NOT_TRANSLATED -en nl HP:0031197 rdfs:label Cellular urinary casts Cellulaire cilinders CANDIDATE -en nl HP:0031197 IAO:0000115 A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells) A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells) NOT_TRANSLATED -en nl HP:0031198 rdfs:label Renal tubular epithelial cell casts Renale tubulaire epitheliale cilinders CANDIDATE -en nl HP:0031198 IAO:0000115 A type of cellular urinary cast composed of renal tubular epithelial cells A type of cellular urinary cast composed of renal tubular epithelial cells NOT_TRANSLATED -en nl HP:0031199 rdfs:label Acellular urinary casts Acellulaire cilinders CANDIDATE -en nl HP:0031199 IAO:0000115 A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells NOT_TRANSLATED -en nl HP:0031200 rdfs:label Hyaline casts Hyaline cilinders CANDIDATE -en nl HP:0031200 IAO:0000115 A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends NOT_TRANSLATED -en nl HP:0031201 rdfs:label Granular casts Granulaire cilinders CANDIDATE -en nl HP:0031201 IAO:0000115 A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented NOT_TRANSLATED -en nl HP:0031202 rdfs:label Waxy casts Wasachtige cilinders CANDIDATE -en nl HP:0031202 IAO:0000115 A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts NOT_TRANSLATED -en nl HP:0031203 rdfs:label Fatty casts Vette cilinders CANDIDATE -en nl HP:0031203 IAO:0000115 A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses NOT_TRANSLATED -en nl HP:0031204 rdfs:label Bacterial cell casts Bacteriële cilinders CANDIDATE -en nl HP:0031204 IAO:0000115 A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection NOT_TRANSLATED -en nl HP:0031205 rdfs:label Reduced lysosomal acid lipase activity Verminderde lysosomale zure lipase activiteit CANDIDATE -en nl HP:0031205 IAO:0000115 Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins NOT_TRANSLATED -en nl HP:0031206 rdfs:label Striatal T2 hyperintensity Striatum T2 hyperintensiteit CANDIDATE -en nl HP:0031206 IAO:0000115 Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging NOT_TRANSLATED -en nl HP:0031207 rdfs:label Hepatic hemangioma Hepatisch hemangioom CANDIDATE -en nl HP:0031207 IAO:0000115 A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size NOT_TRANSLATED -en nl HP:0031208 rdfs:label Increased pituitary glycoprotein hormone alpha subunit level Increased pituitary glycoprotein hormone alpha subunit level NOT_TRANSLATED -en nl HP:0031208 IAO:0000115 An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones NOT_TRANSLATED -en nl HP:0031209 rdfs:label Decreased circulating lipoprotein lipase concentration Afgenomen lipoproteïne lipase activiteit CANDIDATE -en nl HP:0031209 IAO:0000115 Reduction in the level of lipoprotein lipase in the blood Reduction in the level of lipoprotein lipase in the blood NOT_TRANSLATED -en nl HP:0031210 rdfs:label Abnormal circulating hyaluronic acid concentration Afwijkende circulerende hyaluronzuur concentratie CANDIDATE -en nl HP:0031210 IAO:0000115 A deviation from the normal concentration of hyaluronic acid in the blood A deviation from the normal concentration of hyaluronic acid in the blood NOT_TRANSLATED -en nl HP:0031211 rdfs:label Elevated cholesterol ester level Verhoogde cholesterol esters niveau CANDIDATE -en nl HP:0031211 IAO:0000115 An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol NOT_TRANSLATED -en nl HP:0031212 rdfs:label Abnormal circulating progesterone level Afwijkend circulerend progesteron niveau CANDIDATE -en nl HP:0031213 rdfs:label Elevated circulating 17-hydroxyprogesterone Verhoogd circulerend 17-hydroxyprogesteron CANDIDATE -en nl HP:0031213 IAO:0000115 An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase NOT_TRANSLATED -en nl HP:0031214 rdfs:label Decreased circulating dehydroepiandrosterone concentration Verminderd circulerend dehydroepiandosteron niveau CANDIDATE -en nl HP:0031215 rdfs:label Decreased circulating dehydroepiandrosterone-sulfate concentration Verminderd circulerend dehydroepiandosteron-sulfaat niveau CANDIDATE -en nl HP:0031215 IAO:0000115 A reduced concentration of dehydroepiandrosterone-sulfate in the blood A reduced concentration of dehydroepiandrosterone-sulfate in the blood NOT_TRANSLATED -en nl HP:0031216 rdfs:label Increased circulating progesterone Toegenomen circulerend progesteron CANDIDATE -en nl HP:0031216 IAO:0000115 An elevated concentration of progesterone in the blood An elevated concentration of progesterone in the blood NOT_TRANSLATED -en nl HP:0031217 rdfs:label Hot flashes Hot flashes NOT_TRANSLATED -en nl HP:0031217 IAO:0000115 Sudden feelings of warmth that are generally most pronounced over the face, neck and chest Sudden feelings of warmth that are generally most pronounced over the face, neck and chest NOT_TRANSLATED -en nl HP:0031218 rdfs:label Inappropriate antidiuretic hormone secretion Ongepaste secretie van antidiuretisch hormoon CANDIDATE -en nl HP:0031218 IAO:0000115 A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume NOT_TRANSLATED -en nl HP:0031219 rdfs:label Reduced radioactive iodine uptake Verminderde radioactief jodium opname CANDIDATE -en nl HP:0031219 IAO:0000115 A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker NOT_TRANSLATED -en nl HP:0031220 rdfs:label Increased radioactive iodine uptake Toegenomen radioactief jodium opname CANDIDATE -en nl HP:0031220 IAO:0000115 An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker NOT_TRANSLATED -en nl HP:0031221 rdfs:label Abnormal radioactive iodine uptake test result Afwijkende radioactief jodium opname testuitslag CANDIDATE -en nl HP:0031221 IAO:0000115 Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker NOT_TRANSLATED -en nl HP:0031222 rdfs:label Increased circulating thyroxine-binding globulin level Toegenomen circulerend thyroxine-bindend globuline niveau CANDIDATE -en nl HP:0031222 IAO:0000115 An elevated concentration of thyroxine-binding globulin (TBG) in the blood An elevated concentration of thyroxine-binding globulin (TBG) in the blood NOT_TRANSLATED -en nl HP:0031223 rdfs:label Focal pancreatic islet hyperplasia Focale hyperplasie van de eilandjes van Langerhans CANDIDATE -en nl HP:0031223 IAO:0000115 Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others NOT_TRANSLATED -en nl HP:0031224 rdfs:label Diffuse pancreatic islet hyperplasia Diffuse hyperplasie van de eilandjes van Langerhans CANDIDATE -en nl HP:0031224 IAO:0000115 Hyperplasia of the islets of Langerhans with a generalized distribution Hyperplasia of the islets of Langerhans with a generalized distribution NOT_TRANSLATED -en nl HP:0031225 rdfs:label Intrapulmonary shunt Intrapulmonale shunt CANDIDATE -en nl HP:0031225 IAO:0000115 Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs NOT_TRANSLATED -en nl HP:0031226 rdfs:label Perinephric fluid collection Perinefrische vloeistof collectie CANDIDATE -en nl HP:0031226 IAO:0000115 An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography NOT_TRANSLATED -en nl HP:0031227 rdfs:label Nasopharyngeal teratoma Nasofaryngeaal teratoom CANDIDATE -en nl HP:0031227 IAO:0000115 A teratoma arising in the nasopharyngeal region A teratoma arising in the nasopharyngeal region NOT_TRANSLATED -en nl HP:0031228 rdfs:label Abnormal incisura morphology Afwijkende incisura morfologie CANDIDATE -en nl HP:0031228 IAO:0000115 An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus NOT_TRANSLATED -en nl HP:0031229 rdfs:label Increased incisura length Toegenomen incisura lengte CANDIDATE -en nl HP:0031229 IAO:0000115 The length of the incisura from the upper to lower border is greater than that observed in the average population The length of the incisura from the upper to lower border is greater than that observed in the average population NOT_TRANSLATED -en nl HP:0031230 rdfs:label Decreased incisura length Afgenomen incisura lengte CANDIDATE -en nl HP:0031230 IAO:0000115 The length of the incisura from the upper to lower border is less than that observed in the average population The length of the incisura from the upper to lower border is less than that observed in the average population NOT_TRANSLATED -en nl HP:0031231 rdfs:label Narrow incisura width Smalle incisura CANDIDATE -en nl HP:0031231 IAO:0000115 Width of the incisura from the anterior to posterior border less than that observed in the average population Width of the incisura from the anterior to posterior border less than that observed in the average population NOT_TRANSLATED -en nl HP:0031232 rdfs:label Increased incisura width Toegenomen incisura breedte CANDIDATE -en nl HP:0031232 IAO:0000115 Breadth of the incisura from the anterior to posterior border greater than that observed in the average population Breadth of the incisura from the anterior to posterior border greater than that observed in the average population NOT_TRANSLATED -en nl HP:0031233 rdfs:label Horizontal inferior border of scapula Horizontal inferior border of scapula NOT_TRANSLATED -en nl HP:0031233 IAO:0000115 A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape) A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape) NOT_TRANSLATED -en nl HP:0031234 rdfs:label Neutrophilic infiltration of the skin Neutrophilic infiltration of the skin NOT_TRANSLATED -en nl HP:0031234 IAO:0000115 A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin) A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin) NOT_TRANSLATED -en nl HP:0031235 rdfs:label Predominantly epidermal neutrophilic infiltrate Overwegend epidermaal neutrofiel infiltraat CANDIDATE -en nl HP:0031235 IAO:0000115 Collection of neutrophils in the epidermis Collection of neutrophils in the epidermis NOT_TRANSLATED -en nl HP:0031236 rdfs:label Predominantly dermal neutrophilic infiltrate Overwegend dermaal neutrofiel infiltraat CANDIDATE -en nl HP:0031236 IAO:0000115 Collection of neutrophils in the dermis Collection of neutrophils in the dermis NOT_TRANSLATED -en nl HP:0031237 rdfs:label Internally nucleated skeletal muscle fibers Internally nucleated skeletal muscle fibers NOT_TRANSLATED -en nl HP:0031237 IAO:0000115 An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei NOT_TRANSLATED -en nl HP:0031238 rdfs:label Necklace skeletal muscle fibers Necklace skeletal muscle fibers NOT_TRANSLATED -en nl HP:0031238 IAO:0000115 A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules NOT_TRANSLATED -en nl HP:0031239 rdfs:label Extrafoveal choroidal neovascularization Extrafoveale choroïdale neovascularisatie CANDIDATE -en nl HP:0031239 IAO:0000115 A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea NOT_TRANSLATED -en nl HP:0031240 rdfs:label Juxtafoveal choroidal neovascularization Juxtafoveale choroïdale neovascularisatie CANDIDATE -en nl HP:0031240 IAO:0000115 A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea NOT_TRANSLATED -en nl HP:0031241 rdfs:label Subfoveal choroidal neovascularization Subfoveale choroïdale neovascularisatie CANDIDATE -en nl HP:0031241 IAO:0000115 A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea NOT_TRANSLATED -en nl HP:0031242 rdfs:label Decreased circulating chylomicron concentration Afgenomen circulerende chylomicronen niveaus CANDIDATE -en nl HP:0031242 IAO:0000115 Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins NOT_TRANSLATED -en nl HP:0031243 rdfs:label Decreased VLDL cholesterol concentration Afgenomen circulerende very-low-density-lipoproteïnen niveaus CANDIDATE -en nl HP:0031243 IAO:0000115 A reduction in the amount of very-low-density lipoprotein cholesterol in the blood A reduction in the amount of very-low-density lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0031244 rdfs:label Swollen lip Gezwollen lip CANDIDATE -en nl HP:0031244 IAO:0000115 Enlargement of the lip typically due to fluid buildup or inflammation Enlargement of the lip typically due to fluid buildup or inflammation NOT_TRANSLATED -en nl HP:0031245 rdfs:label Productive cough Productieve hoest CANDIDATE -en nl HP:0031245 IAO:0000115 A cough that produces phlegm or mucus A cough that produces phlegm or mucus NOT_TRANSLATED -en nl HP:0031246 rdfs:label Nonproductive cough Niet-productieve hoest CANDIDATE -en nl HP:0031246 IAO:0000115 A cough that does not produce phlegm or mucus A cough that does not produce phlegm or mucus NOT_TRANSLATED -en nl HP:0031247 rdfs:label Whooping cough Kinkhoest CANDIDATE -en nl HP:0031247 IAO:0000115 A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air NOT_TRANSLATED -en nl HP:0031248 rdfs:label Palmar pruritus Palmaire pruritus CANDIDATE -en nl HP:0031248 IAO:0000115 Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand NOT_TRANSLATED -en nl HP:0031249 rdfs:label Parageusia Parageusie CANDIDATE -en nl HP:0031249 IAO:0000115 A distortion of the sense of taste, often characterized by the sensation of a metallic taste A distortion of the sense of taste, often characterized by the sensation of a metallic taste NOT_TRANSLATED -en nl HP:0031250 rdfs:label Lip fissure Lip fissuur CANDIDATE -en nl HP:0031250 IAO:0000115 A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation NOT_TRANSLATED -en nl HP:0031251 rdfs:label Abnormal subclavian artery morphology Afwijkende arteria subclavia morfologie CANDIDATE -en nl HP:0031251 IAO:0000115 Any anomaly of a subclavian artery Any anomaly of a subclavian artery NOT_TRANSLATED -en nl HP:0031252 rdfs:label Dilated left subclavian artery Verwijde linker arteria subclavia CANDIDATE -en nl HP:0031252 IAO:0000115 Abnormally increased caliber of the left subclavian artery Abnormally increased caliber of the left subclavian artery NOT_TRANSLATED -en nl HP:0031253 rdfs:label Anomalous origin of left subclavian artery Afwijkende oorsprong van linker arteria subclavia CANDIDATE -en nl HP:0031253 IAO:0000115 Origin of the left subclavian artery from an anomalous anatomical location Origin of the left subclavian artery from an anomalous anatomical location NOT_TRANSLATED -en nl HP:0031254 rdfs:label Thalamic arteriovenous malformation Thalamus arterioveneuze malformatie CANDIDATE -en nl HP:0031254 IAO:0000115 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus NOT_TRANSLATED -en nl HP:0031255 rdfs:label Hypothalamic arteriovenous malformation Hypothalame arterioveneuze malformatie CANDIDATE -en nl HP:0031255 IAO:0000115 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus NOT_TRANSLATED -en nl HP:0031256 rdfs:label Optic nerve arteriovenous malformation Nervus opticus arterioveneuze malformatie CANDIDATE -en nl HP:0031256 IAO:0000115 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve NOT_TRANSLATED -en nl HP:0031257 rdfs:label Arteriovenous malformation of the maxilla Arterioveneuze malformatie van de maxilla CANDIDATE -en nl HP:0031257 IAO:0000115 An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla NOT_TRANSLATED -en nl HP:0031258 rdfs:label Delirium Delirium CANDIDATE -en nl HP:0031258 IAO:0000115 A state of sudden and severe confusion A state of sudden and severe confusion NOT_TRANSLATED -en nl HP:0031259 rdfs:label Oophoritis Oöforitis CANDIDATE -en nl HP:0031259 IAO:0000115 An inflammation of the ovary or ovaries An inflammation of the ovary or ovaries NOT_TRANSLATED -en nl HP:0031260 rdfs:label Triangular tibia Driehoekige tibia CANDIDATE -en nl HP:0031260 IAO:0000115 A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally NOT_TRANSLATED -en nl HP:0031261 rdfs:label Bladder polyp Blaas poliep CANDIDATE -en nl HP:0031261 IAO:0000115 An abnormal growth that projects from the mucous membrane of the urinary bladder An abnormal growth that projects from the mucous membrane of the urinary bladder NOT_TRANSLATED -en nl HP:0031263 rdfs:label Abnormal renal corpuscle morphology Afwijkende lichaampje van Malpighi morfologie CANDIDATE -en nl HP:0031263 IAO:0000115 Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule NOT_TRANSLATED -en nl HP:0031264 rdfs:label Abnormal Bowman capsule morphology Afwijkende morfologie van kapsel van Bowman CANDIDATE -en nl HP:0031264 IAO:0000115 A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule NOT_TRANSLATED -en nl HP:0031265 rdfs:label Abnormal glomerular visceral epithelial cell morphology Afwijkende podocyt morfologie CANDIDATE -en nl HP:0031265 IAO:0000115 Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary NOT_TRANSLATED -en nl HP:0031266 rdfs:label Podocyte foot process effacement Podocyte foot process effacement NOT_TRANSLATED -en nl HP:0031266 IAO:0000115 An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier NOT_TRANSLATED -en nl HP:0031267 rdfs:label Abnormal CD69 upregulation upon TCR activation Afwijkende CD69 opregulatie na activatie van TCR CANDIDATE -en nl HP:0031267 IAO:0000115 Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus NOT_TRANSLATED -en nl HP:0031268 rdfs:label Decreased CD69 upregulation upon TCR activation Afgenomen CD69 opregulatie na activatie van TCR CANDIDATE -en nl HP:0031268 IAO:0000115 Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR) Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR) NOT_TRANSLATED -en nl HP:0031269 rdfs:label Abnormal CD25 upregulation upon TCR activation Afwijkende CD25 opregulatie na activatie van TCR CANDIDATE -en nl HP:0031269 IAO:0000115 Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression NOT_TRANSLATED -en nl HP:0031270 rdfs:label Decreased CD25 upregulation upon TCR activation Afgenomen CD25 opregulatie na activatie van TCR CANDIDATE -en nl HP:0031270 IAO:0000115 Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR) Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR) NOT_TRANSLATED -en nl HP:0031271 rdfs:label Absent ankle pulse Afwezige enkel pulsatie CANDIDATE -en nl HP:0031271 IAO:0000115 The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination NOT_TRANSLATED -en nl HP:0031272 rdfs:label Pulmonary arterial atherosclerosis Pulmonale arteriële atherosclerose CANDIDATE -en nl HP:0031272 IAO:0000115 Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery NOT_TRANSLATED -en nl HP:0031273 rdfs:label Shock Shock CANDIDATE -en nl HP:0031273 IAO:0000115 The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury NOT_TRANSLATED -en nl HP:0031274 rdfs:label Hypovolemic shock Hypovolemische shock CANDIDATE -en nl HP:0031274 IAO:0000115 A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures NOT_TRANSLATED -en nl HP:0031275 rdfs:label Distributive shock Distributieve shock CANDIDATE -en nl HP:0031275 IAO:0000115 A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage NOT_TRANSLATED -en nl HP:0031276 rdfs:label Obstructive shock Obstructieve shock CANDIDATE -en nl HP:0031276 IAO:0000115 A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism) A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism) NOT_TRANSLATED -en nl HP:0031278 rdfs:label Abnormal thoracic duct morphology Afwijkende ductus thoracicus morfologie CANDIDATE -en nl HP:0031278 IAO:0000115 Any structural anomaly of the thoracic duct Any structural anomaly of the thoracic duct NOT_TRANSLATED -en nl HP:0031279 rdfs:label Abnormal response to gonadotropin-releasing hormone stimulation test Afwijkende reactie op gonadotropine-releasing hormoon stimulatie test CANDIDATE -en nl HP:0031279 IAO:0000115 An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) NOT_TRANSLATED -en nl HP:0031280 rdfs:label Increased LH response to gonadotropin-releasing hormone stimulation test Toegenomen LH reactie op gonadotropine-releasing hormoon stimulatie test CANDIDATE -en nl HP:0031280 IAO:0000115 An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test NOT_TRANSLATED -en nl HP:0031281 rdfs:label Sialadenitis Sialadenitis CANDIDATE -en nl HP:0031281 IAO:0000115 Inflammation of a salivary gland Inflammation of a salivary gland NOT_TRANSLATED -en nl HP:0031282 rdfs:label Malalignment of the great toenail Malalignment of the great toenail NOT_TRANSLATED -en nl HP:0031282 IAO:0000115 A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges NOT_TRANSLATED -en nl HP:0031283 rdfs:label Tufted hairs Tufted hairs NOT_TRANSLATED -en nl HP:0031283 IAO:0000115 The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice NOT_TRANSLATED -en nl HP:0031284 rdfs:label Flushing Flushing NOT_TRANSLATED -en nl HP:0031284 IAO:0000115 Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin NOT_TRANSLATED -en nl HP:0031285 rdfs:label Abnormal perifollicular morphology Afwijkende perifolliculaire morfologie CANDIDATE -en nl HP:0031285 IAO:0000115 Any structural anomaly in the areas surrounding the hair follicles Any structural anomaly in the areas surrounding the hair follicles NOT_TRANSLATED -en nl HP:0031286 rdfs:label Perifollicular erythema Perifolliculair erytheem CANDIDATE -en nl HP:0031286 IAO:0000115 Redness surrounding the hair follicles Redness surrounding the hair follicles NOT_TRANSLATED -en nl HP:0031287 rdfs:label Seborrheic keratosis Seborroïsche keratose CANDIDATE -en nl HP:0031287 IAO:0000115 A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look NOT_TRANSLATED -en nl HP:0031288 rdfs:label Cobblestone-like hyperkeratosis Cobblestone-like hyperkeratosis NOT_TRANSLATED -en nl HP:0031288 IAO:0000115 The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones NOT_TRANSLATED -en nl HP:0031289 rdfs:label White papule Witte papel CANDIDATE -en nl HP:0031289 IAO:0000115 A papule with white color A papule with white color NOT_TRANSLATED -en nl HP:0031290 rdfs:label Tuberous xanthoma Tubereuze xanthomen CANDIDATE -en nl HP:0031290 IAO:0000115 A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes NOT_TRANSLATED -en nl HP:0031291 rdfs:label Ichthyosis follicularis Ichthyosis follicularis CANDIDATE -en nl HP:0031291 IAO:0000115 Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed NOT_TRANSLATED -en nl HP:0031292 rdfs:label Cutaneous abscess Cutaan abces CANDIDATE -en nl HP:0031292 IAO:0000115 A circumscribed area of pus or necrotic debris in the skin A circumscribed area of pus or necrotic debris in the skin NOT_TRANSLATED -en nl HP:0031293 rdfs:label Digital pitting scar Digital pitting scar NOT_TRANSLATED -en nl HP:0031293 IAO:0000115 Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe NOT_TRANSLATED -en nl HP:0031294 rdfs:label Hypoplastic right atrium Hypoplastisch rechter atrium CANDIDATE -en nl HP:0031294 IAO:0000115 Underdeveloped, small right heart atrium Underdeveloped, small right heart atrium NOT_TRANSLATED -en nl HP:0031295 rdfs:label Left atrial enlargement Vergroting van linker atrium CANDIDATE -en nl HP:0031295 IAO:0000115 Increase in size of the left atrium Increase in size of the left atrium NOT_TRANSLATED -en nl HP:0031296 rdfs:label Atrial septal hypertrophy Atriale septale hypertrofie CANDIDATE -en nl HP:0031296 IAO:0000115 An abnormal increase in the thickness of the atrial septum An abnormal increase in the thickness of the atrial septum NOT_TRANSLATED -en nl HP:0031297 rdfs:label Unroofed coronary sinus Unroofed coronary sinus NOT_TRANSLATED -en nl HP:0031297 IAO:0000115 Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion NOT_TRANSLATED -en nl HP:0031298 rdfs:label Coronary sinus enlargement Sinus coronarius vergroting CANDIDATE -en nl HP:0031298 IAO:0000115 Abnormal increase in size of the coronary sinus Abnormal increase in size of the coronary sinus NOT_TRANSLATED -en nl HP:0031299 rdfs:label Elevated left atrial pressure Verhoogde linker atriale druk CANDIDATE -en nl HP:0031299 IAO:0000115 An abnormal increase in magnitude of the pressure in the left atrium An abnormal increase in magnitude of the pressure in the left atrium NOT_TRANSLATED -en nl HP:0031300 rdfs:label Abnormal circulating properdin level Afwijkend circulerend properdine niveau CANDIDATE -en nl HP:0031300 IAO:0000115 A deviation from the normal concentration of properdin in the blood A deviation from the normal concentration of properdin in the blood NOT_TRANSLATED -en nl HP:0031301 rdfs:label Peripheral arterial calcification Perifere arteriële calcificatie CANDIDATE -en nl HP:0031301 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall NOT_TRANSLATED -en nl HP:0031302 rdfs:label Lower extremity peripheral arterial calcification Perifere arteriële calcificatie van onderste extremiteit CANDIDATE -en nl HP:0031302 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg NOT_TRANSLATED -en nl HP:0031303 rdfs:label Femoral arterial calcification Arteria femoralis calcificatie CANDIDATE -en nl HP:0031303 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery NOT_TRANSLATED -en nl HP:0031304 rdfs:label Iliac arterial calcification Arteria iliaca calcificatie CANDIDATE -en nl HP:0031304 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery NOT_TRANSLATED -en nl HP:0031305 rdfs:label Tibial arterial calcification Arteria tibialis calcificatie CANDIDATE -en nl HP:0031305 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery NOT_TRANSLATED -en nl HP:0031306 rdfs:label Intracranial arterial calcification Intracraniële arteriële calcificatie CANDIDATE -en nl HP:0031306 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial) An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial) NOT_TRANSLATED -en nl HP:0031307 rdfs:label Internal carotid artery calcification Arteria carotis interna calcificatie CANDIDATE -en nl HP:0031307 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery NOT_TRANSLATED -en nl HP:0031308 rdfs:label Vertebral artery calcification Arteria vertebralis calcificatie CANDIDATE -en nl HP:0031308 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery NOT_TRANSLATED -en nl HP:0031309 rdfs:label Cerebral artery calcification Cerebrale arterie calcificatie CANDIDATE -en nl HP:0031309 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery NOT_TRANSLATED -en nl HP:0031310 rdfs:label Basilar artery calcification Arteria basilaris calcificatie CANDIDATE -en nl HP:0031310 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery NOT_TRANSLATED -en nl HP:0031311 rdfs:label Middle cerebral artery calcification Arteria cerebri media calcificatie CANDIDATE -en nl HP:0031311 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery NOT_TRANSLATED -en nl HP:0031313 rdfs:label Abdominal aortic calcification Abdominale aorta calcificatie CANDIDATE -en nl HP:0031313 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta NOT_TRANSLATED -en nl HP:0031314 rdfs:label Carotid artery calcification Arteria carotis calcificatie CANDIDATE -en nl HP:0031314 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery NOT_TRANSLATED -en nl HP:0031315 rdfs:label External carotid artery calcification Arteria carotis externa calcificatie CANDIDATE -en nl HP:0031315 IAO:0000115 An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery NOT_TRANSLATED -en nl HP:0031316 rdfs:label Abnormal ventricular myocardium morphology Afwijkende ventriculaire myocard morfologie CANDIDATE -en nl HP:0031316 IAO:0000115 A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle NOT_TRANSLATED -en nl HP:0031317 rdfs:label Fatty replacement of ventricular myocardial tissue Fatty replacement of ventricular myocardial tissue NOT_TRANSLATED -en nl HP:0031317 IAO:0000115 Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue NOT_TRANSLATED -en nl HP:0031318 rdfs:label Myofiber disarray Myofiber disarray NOT_TRANSLATED -en nl HP:0031318 IAO:0000115 A nonparallel arrangement of cardiac myocytes A nonparallel arrangement of cardiac myocytes NOT_TRANSLATED -en nl HP:0031319 rdfs:label Cardiomyocyte hypertrophy Cardiomyocyt hypertrofie CANDIDATE -en nl HP:0031319 IAO:0000115 An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes NOT_TRANSLATED -en nl HP:0031320 rdfs:label Cardiomyocyte mitochondrial proliferation Cardiomyocyt mitochondriale proliferatie CANDIDATE -en nl HP:0031320 IAO:0000115 An abnormal increase in the number of mitochondria per cardiac myocyte An abnormal increase in the number of mitochondria per cardiac myocyte NOT_TRANSLATED -en nl HP:0031321 rdfs:label Myocardial immune cell infiltration Myocardiale immuuncel infiltratie CANDIDATE -en nl HP:0031321 IAO:0000115 An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium) An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium) NOT_TRANSLATED -en nl HP:0031322 rdfs:label Myocardial lymphocytic infiltration Myocardiale lymfocytaire infiltratie CANDIDATE -en nl HP:0031322 IAO:0000115 An increase in the number of lymphocytes in myocardial tissue An increase in the number of lymphocytes in myocardial tissue NOT_TRANSLATED -en nl HP:0031323 rdfs:label Myocardial eosinophilic infiltration Myocardiale eosinofiele infiltratie CANDIDATE -en nl HP:0031323 IAO:0000115 An increase in the number of eosinophils in myocardial tissue An increase in the number of eosinophils in myocardial tissue NOT_TRANSLATED -en nl HP:0031324 rdfs:label Myocardial multinucleated giant cells Myocardial multinucleated giant cells NOT_TRANSLATED -en nl HP:0031324 IAO:0000115 The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin NOT_TRANSLATED -en nl HP:0031325 rdfs:label Myocardial granulomatous infiltrates Myocardiale granulomateuze infiltraten CANDIDATE -en nl HP:0031325 IAO:0000115 The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium NOT_TRANSLATED -en nl HP:0031326 rdfs:label Monoclonal light chain cardiac amyloidosis Monoclonal light chain cardiac amyloidosis NOT_TRANSLATED -en nl HP:0031326 IAO:0000115 A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry NOT_TRANSLATED -en nl HP:0031327 rdfs:label Transthyretin cardiac amyloidosis Transthyretin cardiac amyloidosis NOT_TRANSLATED -en nl HP:0031327 IAO:0000115 A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining NOT_TRANSLATED -en nl HP:0031328 rdfs:label Perivascular cardiac fibrosis Perivasculaire cardiale fibrose CANDIDATE -en nl HP:0031328 IAO:0000115 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces NOT_TRANSLATED -en nl HP:0031329 rdfs:label Interstitial cardiac fibrosis Interstitiële cardiale fibrose CANDIDATE -en nl HP:0031329 IAO:0000115 A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces NOT_TRANSLATED -en nl HP:0031330 rdfs:label Perivascular myocardial immune cell infiltration Perivasculaire myocardiale immuuncel infiltratie CANDIDATE -en nl HP:0031330 IAO:0000115 An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels NOT_TRANSLATED -en nl HP:0031331 rdfs:label Abnormal cardiomyocyte morphology Afwijkende cardiomyocyt morfologie CANDIDATE -en nl HP:0031331 IAO:0000115 Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue NOT_TRANSLATED -en nl HP:0031332 rdfs:label Cardiomyocyte degeneration Cardiomyocyt degeneratie CANDIDATE -en nl HP:0031332 IAO:0000115 Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris NOT_TRANSLATED -en nl HP:0031333 rdfs:label Myocardial sarcomeric disarray Myocardial sarcomeric disarray NOT_TRANSLATED -en nl HP:0031333 IAO:0000115 A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes NOT_TRANSLATED -en nl HP:0031334 rdfs:label Cardiomyocyte inclusion bodies Cardiomyocyte inclusion bodies NOT_TRANSLATED -en nl HP:0031334 IAO:0000115 Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes NOT_TRANSLATED -en nl HP:0031335 rdfs:label Abnormal cardiomyocyte mitochondrial morphology Abnormal cardiomyocyte mitochondrial morphology NOT_TRANSLATED -en nl HP:0031335 IAO:0000115 An anomaly of the structure of mitochondria within cardiomyocytes An anomaly of the structure of mitochondria within cardiomyocytes NOT_TRANSLATED -en nl HP:0031336 rdfs:label Intranuclear cardiomyocyte mitochondria Intranuclear cardiomyocyte mitochondria NOT_TRANSLATED -en nl HP:0031336 IAO:0000115 Abnormal localization of mitochondria within the nuclei of cardiomyocytes Abnormal localization of mitochondria within the nuclei of cardiomyocytes NOT_TRANSLATED -en nl HP:0031337 rdfs:label Abnormal cardiomyocyte connexin43 staining Abnormal cardiomyocyte connexin43 staining NOT_TRANSLATED -en nl HP:0031337 IAO:0000115 Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases NOT_TRANSLATED -en nl HP:0031338 rdfs:label Abnormal cardiomyocyte plakoglobin staining Abnormal cardiomyocyte plakoglobin staining NOT_TRANSLATED -en nl HP:0031338 IAO:0000115 Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes NOT_TRANSLATED -en nl HP:0031339 rdfs:label Abnormal cadiomyocyte dystrophin staining Abnormal cadiomyocyte dystrophin staining NOT_TRANSLATED -en nl HP:0031339 IAO:0000115 Anomalous staining of dystrophin in cardiomyocytes Anomalous staining of dystrophin in cardiomyocytes NOT_TRANSLATED -en nl HP:0031340 rdfs:label Abnormal lysosomal morphology Afwijkende lysosomale morfologie CANDIDATE -en nl HP:0031340 IAO:0000115 A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids NOT_TRANSLATED -en nl HP:0031341 rdfs:label Gastric arteriovenous malformation Gastrische arterioveneuze malformatie CANDIDATE -en nl HP:0031341 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach NOT_TRANSLATED -en nl HP:0031342 rdfs:label Duodenal arteriovenous malformation Duodenale arterioveneuze malformatie CANDIDATE -en nl HP:0031342 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum NOT_TRANSLATED -en nl HP:0031343 rdfs:label Jejunal arteriovenous malformation Jejunale arterioveneuze malformatie CANDIDATE -en nl HP:0031343 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum NOT_TRANSLATED -en nl HP:0031344 rdfs:label Pelvic arteriovenous malformation Pelvische arterioveneuze malformatie CANDIDATE -en nl HP:0031344 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis NOT_TRANSLATED -en nl HP:0031345 rdfs:label Colonic arteriovenous malformation Colonische arterioveneuze malformatie CANDIDATE -en nl HP:0031345 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon NOT_TRANSLATED -en nl HP:0031346 rdfs:label Rectal arteriovenous malformation Rectale arterioveneuze malformatie CANDIDATE -en nl HP:0031346 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum NOT_TRANSLATED -en nl HP:0031347 rdfs:label Uterine arteriovenous malformation Uteriene arterioveneuze malformatie CANDIDATE -en nl HP:0031347 IAO:0000115 An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus NOT_TRANSLATED -en nl HP:0031348 rdfs:label Dextrotransposition of the great arteries Dextro-transpositie van de grote slagaders CANDIDATE -en nl HP:0031348 IAO:0000115 A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA NOT_TRANSLATED -en nl HP:0031349 rdfs:label Levotransposition of the great arteries Levo-transpositie van de grote slagaders CANDIDATE -en nl HP:0031349 IAO:0000115 A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery NOT_TRANSLATED -en nl HP:0031350 rdfs:label Cardiac sarcoma Cardiaal sarcoom CANDIDATE -en nl HP:0031350 IAO:0000115 A malignant soft tissue neoplasm that arises from the heart A malignant soft tissue neoplasm that arises from the heart NOT_TRANSLATED -en nl HP:0031351 rdfs:label Calcified amorphous tumor of the heart Gecalcificeerde amorfe tumor van het hart CANDIDATE -en nl HP:0031351 IAO:0000115 A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue NOT_TRANSLATED -en nl HP:0031352 rdfs:label Chest tightness Beklemming op de borst CANDIDATE -en nl HP:0031352 IAO:0000115 An unpleasant sensation of tightness or pressure in the chest An unpleasant sensation of tightness or pressure in the chest NOT_TRANSLATED -en nl HP:0031353 rdfs:label Otitis media with effusion Otitis media met effusie CANDIDATE -en nl HP:0031353 IAO:0000115 Otitis media characterized by thick or sticky fluid behind the tympanic membrane Otitis media characterized by thick or sticky fluid behind the tympanic membrane NOT_TRANSLATED -en nl HP:0031354 rdfs:label Sleep onset insomnia Sleep onset insomnia NOT_TRANSLATED -en nl HP:0031354 IAO:0000115 Difficulty initiating sleep, that is, increased sleep onset latency Difficulty initiating sleep, that is, increased sleep onset latency NOT_TRANSLATED -en nl HP:0031355 rdfs:label Maintenance insomnia Maintenance insomnia NOT_TRANSLATED -en nl HP:0031355 IAO:0000115 Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep NOT_TRANSLATED -en nl HP:0031356 rdfs:label Terminal insomnia Terminale insomnie CANDIDATE -en nl HP:0031356 IAO:0000115 A type of insomnia characterized by waking up (too) early in the morning A type of insomnia characterized by waking up (too) early in the morning NOT_TRANSLATED -en nl HP:0031357 rdfs:label Glomeruloid hemangioma Glomeruloïd hemangioom CANDIDATE -en nl HP:0031357 IAO:0000115 A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli NOT_TRANSLATED -en nl HP:0031358 rdfs:label Vegetative state Vegetatieve staat CANDIDATE -en nl HP:0031358 IAO:0000115 Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities) Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities) NOT_TRANSLATED -en nl HP:0031359 rdfs:label Cutaneous sclerotic plaque Cutane sclerotische plaque CANDIDATE -en nl HP:0031359 IAO:0000115 A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening) A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening) NOT_TRANSLATED -en nl HP:0031360 rdfs:label Yellow skin plaque Gele huid plaque CANDIDATE -en nl HP:0031360 IAO:0000115 A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color NOT_TRANSLATED -en nl HP:0031361 rdfs:label Zebra bodies Zebra bodies NOT_TRANSLATED -en nl HP:0031361 IAO:0000115 Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images NOT_TRANSLATED -en nl HP:0031363 rdfs:label Palpable purpura Palpabele purpura CANDIDATE -en nl HP:0031363 IAO:0000115 A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation) A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation) NOT_TRANSLATED -en nl HP:0031364 rdfs:label Ecchymosis Ecchymose CANDIDATE -en nl HP:0031364 IAO:0000115 A purpuric lesion that is larger than 1 cm in diameter A purpuric lesion that is larger than 1 cm in diameter NOT_TRANSLATED -en nl HP:0031365 rdfs:label Macular purpura Macula purpura CANDIDATE -en nl HP:0031365 IAO:0000115 Purpura that is flat (non-palpable, not raised) Purpura that is flat (non-palpable, not raised) NOT_TRANSLATED -en nl HP:0031366 rdfs:label Palate neoplasm Palatum neoplasma CANDIDATE -en nl HP:0031366 IAO:0000115 A neoplasm that affects the hard palate, soft palate, or uvula A neoplasm that affects the hard palate, soft palate, or uvula NOT_TRANSLATED -en nl HP:0031367 rdfs:label Metaphyseal striations Metafysaire striaties CANDIDATE -en nl HP:0031367 IAO:0000115 Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis) Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis) NOT_TRANSLATED -en nl HP:0031368 rdfs:label Intestinal perforation Intestinale perforatie CANDIDATE -en nl HP:0031368 IAO:0000115 A hole (perforation) in the wall of the intestine A hole (perforation) in the wall of the intestine NOT_TRANSLATED -en nl HP:0031369 rdfs:label Colon perforation Colon perforatie CANDIDATE -en nl HP:0031369 IAO:0000115 A hole (perforation) in the wall of the colon A hole (perforation) in the wall of the colon NOT_TRANSLATED -en nl HP:0031370 rdfs:label Small intestinal perforation Perforatie van dunne darm CANDIDATE -en nl HP:0031370 IAO:0000115 A hole (perforation) in the wall of the small intestine A hole (perforation) in the wall of the small intestine NOT_TRANSLATED -en nl HP:0031371 rdfs:label Rectal perforation Rectale perforatie CANDIDATE -en nl HP:0031371 IAO:0000115 A hole (perforation) in the wall of the rectum A hole (perforation) in the wall of the rectum NOT_TRANSLATED -en nl HP:0031372 rdfs:label Cold paresis Koud parese CANDIDATE -en nl HP:0031372 IAO:0000115 Increased muscle weakness upon exposure to cold temperatures Increased muscle weakness upon exposure to cold temperatures NOT_TRANSLATED -en nl HP:0031373 rdfs:label Stiff tongue Stijve tong CANDIDATE -en nl HP:0031373 IAO:0000115 Increased rigidity and reduced mobility of the tongue Increased rigidity and reduced mobility of the tongue NOT_TRANSLATED -en nl HP:0031374 rdfs:label Ankle weakness Enkel zwakte CANDIDATE -en nl HP:0031374 IAO:0000115 Reduced strength of the muscles that lift or otherwise move the foot at the ankle Reduced strength of the muscles that lift or otherwise move the foot at the ankle NOT_TRANSLATED -en nl HP:0031375 rdfs:label Refractory Refractoir CANDIDATE -en nl HP:0031375 IAO:0000115 Applies to a sign or symptom that is difficult to treat or cure Applies to a sign or symptom that is difficult to treat or cure NOT_TRANSLATED -en nl HP:0031377 rdfs:label Abnormal cell proliferation Afwijkende cel proliferatie CANDIDATE -en nl HP:0031377 IAO:0000115 Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population NOT_TRANSLATED -en nl HP:0031378 rdfs:label Abnormal lymphocyte proliferation Afwijkende lymfocyt proliferatie CANDIDATE -en nl HP:0031378 IAO:0000115 Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population NOT_TRANSLATED -en nl HP:0031379 rdfs:label Abnormal T cell proliferation Afwijkende T-cel proliferatie CANDIDATE -en nl HP:0031379 IAO:0000115 Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population NOT_TRANSLATED -en nl HP:0031380 rdfs:label Abnormal B cell proliferation Afwijkende B-cel proliferatie CANDIDATE -en nl HP:0031380 IAO:0000115 Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population NOT_TRANSLATED -en nl HP:0031381 rdfs:label Decreased lymphocyte proliferation in response to mitogen Verminderde proliferatie van lymfocyten als reactie op mitogeen CANDIDATE -en nl HP:0031381 IAO:0000115 A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA) A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA) NOT_TRANSLATED -en nl HP:0031382 rdfs:label Decreased lymphocyte proliferation in response to anti-CD3 Verminderde proliferatie van lymfocyten als reactie op anti-CD3 CANDIDATE -en nl HP:0031382 IAO:0000115 A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3 A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3 NOT_TRANSLATED -en nl HP:0031383 rdfs:label Abnormal lymphocyte surface marker expression Abnormal lymphocyte surface marker expression NOT_TRANSLATED -en nl HP:0031383 IAO:0000115 Abnormal amount of a protein that is normally present on the cell surface of lymphocytes Abnormal amount of a protein that is normally present on the cell surface of lymphocytes NOT_TRANSLATED -en nl HP:0031384 rdfs:label Reduced T cell CD40 expression Afgenomen T-cell CD40 expressie CANDIDATE -en nl HP:0031384 IAO:0000115 A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes NOT_TRANSLATED -en nl HP:0031385 rdfs:label Megakaryocyte nucleus hypolobulation Megakaryocytaire nucleus hypolobulatie CANDIDATE -en nl HP:0031385 IAO:0000115 The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus NOT_TRANSLATED -en nl HP:0031386 rdfs:label Increased micromegakaryocyte count Increased micromegakaryocyte count NOT_TRANSLATED -en nl HP:0031386 IAO:0000115 The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter NOT_TRANSLATED -en nl HP:0031387 rdfs:label Increased multinucleated megakaryocyte count Increased multinucleated megakaryocyte count NOT_TRANSLATED -en nl HP:0031387 IAO:0000115 The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow NOT_TRANSLATED -en nl HP:0031388 rdfs:label Megakaryocyte nucleus hyperlobulation Megakaryocyte nucleus hyperlobulation NOT_TRANSLATED -en nl HP:0031388 IAO:0000115 The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus NOT_TRANSLATED -en nl HP:0031389 rdfs:label Abnormal MHC II surface expression Afwijkende MHC II oppervlakte expressie CANDIDATE -en nl HP:0031389 IAO:0000115 A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface NOT_TRANSLATED -en nl HP:0031390 rdfs:label Reduced MHC II surface expression Afgenomen MHC II oppervlakte expressie CANDIDATE -en nl HP:0031390 IAO:0000115 A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface NOT_TRANSLATED -en nl HP:0031391 rdfs:label Elevated MHC II surface expression Toegenomen MHC II oppervlakte expressie CANDIDATE -en nl HP:0031391 IAO:0000115 An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface NOT_TRANSLATED -en nl HP:0031392 rdfs:label Abnormal proportion of CD4-positive T cells Afwijkende proportie van CD4 T-cellen CANDIDATE -en nl HP:0031392 IAO:0000115 Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0031393 rdfs:label Abnormal proportion of CD8-positive T cells Afwijkende proportie van CD8 T-cellen CANDIDATE -en nl HP:0031393 IAO:0000115 Any abnormality in the proportion of CD8 T cells relative to the total number of T cells Any abnormality in the proportion of CD8 T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0031394 rdfs:label Abnormal CD4:CD8 ratio Afwijkende CD4:CD8 verhouding CANDIDATE -en nl HP:0031394 IAO:0000115 Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes NOT_TRANSLATED -en nl HP:0031396 rdfs:label Abnormal proportion of naive T cells Afwijkende proportie van naïeve T-cellen CANDIDATE -en nl HP:0031396 IAO:0000115 Any abnormality in the proportion of naive T cells relative to the total number of T cells Any abnormality in the proportion of naive T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0031397 rdfs:label Decreased proportion of naive T cells Afgenomen proportie van naïeve T-cellen CANDIDATE -en nl HP:0031397 IAO:0000115 An abnormally decreased proportion of naive T cells relative to the total number of T cells An abnormally decreased proportion of naive T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0031398 rdfs:label Increased proportion of naive T cells Toegenomen proportie van naïeve T-cellen CANDIDATE -en nl HP:0031398 IAO:0000115 An abnormally increased proportion of naive T cells relative to the total number of T cells An abnormally increased proportion of naive T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0031399 rdfs:label Abnormal proportion of double-negative alpha-beta regulatory T cell Afwijkende proportie van dubbel-negatieve, alfa-beta, regulatoire T-cellen CANDIDATE -en nl HP:0031399 IAO:0000115 An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells NOT_TRANSLATED -en nl HP:0031401 rdfs:label Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Gereduceerd aantal CD4-negatieve, CD8-negatieve, alpha-beta regulatoire T-cellen CANDIDATE -en nl HP:0031401 IAO:0000115 An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells NOT_TRANSLATED -en nl HP:0031402 rdfs:label Reduced antigen-specific T cell proliferation Reduced antigen-specific T cell proliferation NOT_TRANSLATED -en nl HP:0031402 IAO:0000115 Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus NOT_TRANSLATED -en nl HP:0031403 rdfs:label Impaired pathogen-specific CD8 cytoxicity Impaired pathogen-specific CD8 cytoxicity NOT_TRANSLATED -en nl HP:0031403 IAO:0000115 Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors NOT_TRANSLATED -en nl HP:0031404 rdfs:label Impaired antigen-specific response Impaired antigen-specific response NOT_TRANSLATED -en nl HP:0031404 IAO:0000115 An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory) An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory) NOT_TRANSLATED -en nl HP:0031405 rdfs:label Poroma Poroom CANDIDATE -en nl HP:0031405 IAO:0000115 A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273] A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273] NOT_TRANSLATED -en nl HP:0031406 rdfs:label Abnormal cytokine signaling Afwijkende cytokine signalering CANDIDATE -en nl HP:0031406 IAO:0000115 Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription NOT_TRANSLATED -en nl HP:0031407 rdfs:label Impaired cytokine signaling Verminderde cytokine signalering CANDIDATE -en nl HP:0031407 IAO:0000115 A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription NOT_TRANSLATED -en nl HP:0031408 rdfs:label Increased proportion of CD25+ mast cells Increased proportion of CD25+ mast cells NOT_TRANSLATED -en nl HP:0031408 IAO:0000115 An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain) An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain) NOT_TRANSLATED -en nl HP:0031409 rdfs:label Abnormal lymphocyte physiology Afwijkende lymfocyten fysiologie CANDIDATE -en nl HP:0031409 IAO:0000115 Any anomaly of lymphocyte function Any anomaly of lymphocyte function NOT_TRANSLATED -en nl HP:0031410 rdfs:label Abnormal distribution of CD56 bright/dim natural killer cells Abnormal distribution of CD56 bright/dim natural killer cells NOT_TRANSLATED -en nl HP:0031410 IAO:0000115 An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells NOT_TRANSLATED -en nl HP:0031411 rdfs:label Abnormal chromosome morphology Abnormale chromosoom morfologie CANDIDATE -en nl HP:0031411 IAO:0000115 Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order NOT_TRANSLATED -en nl HP:0031412 rdfs:label Abnormal telomere morphology Afwijkende telomeer morfologie CANDIDATE -en nl HP:0031413 rdfs:label Short telomere length Korte telomeer lengte CANDIDATE -en nl HP:0031413 IAO:0000115 An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur NOT_TRANSLATED -en nl HP:0031414 rdfs:label High serum calcifediol Hoge serum calcifediol CANDIDATE -en nl HP:0031414 IAO:0000115 An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3 An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3 NOT_TRANSLATED -en nl HP:0031415 rdfs:label High serum calcitriol Hoge serum calcitriol CANDIDATE -en nl HP:0031415 IAO:0000115 An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 NOT_TRANSLATED -en nl HP:0031416 rdfs:label Abnormal nasal mucus secretion Afwijkend nasale slijm secretie CANDIDATE -en nl HP:0031416 IAO:0000115 Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose NOT_TRANSLATED -en nl HP:0031417 rdfs:label Rhinorrhea Rinorroe CANDIDATE -en nl HP:0031417 IAO:0000115 Increased discharge of mucus from the nose Increased discharge of mucus from the nose NOT_TRANSLATED -en nl HP:0031418 rdfs:label Increased body mass index Verhoogde body mass index CANDIDATE -en nl HP:0031418 IAO:0000115 Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages NOT_TRANSLATED -en nl HP:0031419 rdfs:label Reduced sex -hormone binding protein level Verminderd sexhormoon bindend globuline niveau CANDIDATE -en nl HP:0031419 IAO:0000115 A decreased concentration of sex-hormone binding protein in the circulation A decreased concentration of sex-hormone binding protein in the circulation NOT_TRANSLATED -en nl HP:0031420 rdfs:label Small yellow foveal lesion with surrounding gray zone Kleine gele foveale laesie met omringende grijze zone CANDIDATE -en nl HP:0031420 IAO:0000115 A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity NOT_TRANSLATED -en nl HP:0031421 rdfs:label Small superior frontal cortex Kleine superieure frontale cortex CANDIDATE -en nl HP:0031421 IAO:0000115 Reduced size of the superior frontal portion of the cerebral cortex Reduced size of the superior frontal portion of the cerebral cortex NOT_TRANSLATED -en nl HP:0031422 rdfs:label Abnormal cerebellar cortex morphology Abnormal cerebellar cortex morphology NOT_TRANSLATED -en nl HP:0031422 IAO:0000115 Any structural anomaly of the cortex of the cerebellum Any structural anomaly of the cortex of the cerebellum NOT_TRANSLATED -en nl HP:0031423 rdfs:label Small cerebellar cortex Kleine cerebellaire cortex CANDIDATE -en nl HP:0031423 IAO:0000115 Reduced size of the cerebellar cortex Reduced size of the cerebellar cortex NOT_TRANSLATED -en nl HP:0031424 rdfs:label Abnormal circulating beta-C-terminal telopeptide concentration Afwijkend circulerend beta-C-terminaal telopeptide niveau CANDIDATE -en nl HP:0031424 IAO:0000115 A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover NOT_TRANSLATED -en nl HP:0031425 rdfs:label Increased circulating beta-C-terminal telopeptide concentration Toegenomen circulerend beta-C-terminaal telopeptide niveau CANDIDATE -en nl HP:0031425 IAO:0000115 A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation NOT_TRANSLATED -en nl HP:0031426 rdfs:label Decreased circulating beta-C-terminal telopeptide concentration Afgenomen circulerend beta-C-terminaal telopeptide niveau CANDIDATE -en nl HP:0031426 IAO:0000115 A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation NOT_TRANSLATED -en nl HP:0031427 rdfs:label Abnormal circulating osteocalcin level Afwijkend circulerend osteocalcin niveau CANDIDATE -en nl HP:0031427 IAO:0000115 A deviation from the normal concentration of osteocalcin in the blood circulation A deviation from the normal concentration of osteocalcin in the blood circulation NOT_TRANSLATED -en nl HP:0031428 rdfs:label Increased circulating osteocalcin level Toegenomen circulerend osteocalcin niveau CANDIDATE -en nl HP:0031428 IAO:0000115 An elevated level of osteocalcin in the blood An elevated level of osteocalcin in the blood NOT_TRANSLATED -en nl HP:0031429 rdfs:label Decreased circulating osteocalcin level Afgenomen circulerend osteocalcin niveau CANDIDATE -en nl HP:0031429 IAO:0000115 A reduced level of osteocalcin in the blood A reduced level of osteocalcin in the blood NOT_TRANSLATED -en nl HP:0031430 rdfs:label Oligoclonal T cell expansion Oligoclonale T-cel expansie CANDIDATE -en nl HP:0031430 IAO:0000115 The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones NOT_TRANSLATED -en nl HP:0031431 rdfs:label Persistent repetition of words Persisterende herhaling van woorden CANDIDATE -en nl HP:0031431 IAO:0000115 Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others NOT_TRANSLATED -en nl HP:0031432 rdfs:label Persistent repetition of actions Persisterende herhaling van acties CANDIDATE -en nl HP:0031432 IAO:0000115 Repeated and inappropriate mechanical repetition of actions Repeated and inappropriate mechanical repetition of actions NOT_TRANSLATED -en nl HP:0031433 rdfs:label Alexithymia Alexithymie CANDIDATE -en nl HP:0031433 IAO:0000115 A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others NOT_TRANSLATED -en nl HP:0031434 rdfs:label Abnormal speech prosody Afwijkende spraak prosodie CANDIDATE -en nl HP:0031434 IAO:0000115 An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm NOT_TRANSLATED -en nl HP:0031435 rdfs:label Monotonic speech Monotonische spraak CANDIDATE -en nl HP:0031435 IAO:0000115 A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice NOT_TRANSLATED -en nl HP:0031436 rdfs:label Increased pitch variability of speech Verhoogde variabiliteit van toonhoogte van spraak CANDIDATE -en nl HP:0031436 IAO:0000115 A speech pattern characterized by abnormally elevated variability of the pitch of the voice A speech pattern characterized by abnormally elevated variability of the pitch of the voice NOT_TRANSLATED -en nl HP:0031437 rdfs:label Pregnancy exposure Zwangerschap blootstelling CANDIDATE -en nl HP:0031437 IAO:0000115 Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants NOT_TRANSLATED -en nl HP:0031438 rdfs:label Abnormal sex hormone-binding globulin level Afwijkend sex-hormoon-bindend globuline niveau CANDIDATE -en nl HP:0031438 IAO:0000115 A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood NOT_TRANSLATED -en nl HP:0031439 rdfs:label Abnormal angiostatin level Afwijkende angiostatine niveau CANDIDATE -en nl HP:0031439 IAO:0000115 A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels NOT_TRANSLATED -en nl HP:0031441 rdfs:label Abnormal tricuspid valve annulus morphology Afwijkende tricuspidalis annulus morfologie CANDIDATE -en nl HP:0031441 IAO:0000115 Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach NOT_TRANSLATED -en nl HP:0031442 rdfs:label Abnormal tricuspid chordae tendinae morphology Afwijkende tricuspidalis chordae tendineae morfologie CANDIDATE -en nl HP:0031442 IAO:0000115 Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve NOT_TRANSLATED -en nl HP:0031443 rdfs:label Abnormal tricuspid valve leaflet morphology Abnormal tricuspid valve leaflet morphology NOT_TRANSLATED -en nl HP:0031443 IAO:0000115 Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve NOT_TRANSLATED -en nl HP:0031444 rdfs:label Dilatation of the tricuspid annulus Dilatation of the tricuspid annulus NOT_TRANSLATED -en nl HP:0031444 IAO:0000115 An increase in the diameter of the ring (annulus) of the tricuspid valve An increase in the diameter of the ring (annulus) of the tricuspid valve NOT_TRANSLATED -en nl HP:0031445 rdfs:label Oral mucosa nodule Orale mucosa nodulus CANDIDATE -en nl HP:0031445 IAO:0000115 A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth NOT_TRANSLATED -en nl HP:0031446 rdfs:label Erosion of oral mucosa Erosie van orale mucosa CANDIDATE -en nl HP:0031446 IAO:0000115 Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion NOT_TRANSLATED -en nl HP:0031447 rdfs:label Penile freckling Sproeten op penis CANDIDATE -en nl HP:0031447 IAO:0000115 Multiple pigmented macules located on the skin of the penis Multiple pigmented macules located on the skin of the penis NOT_TRANSLATED -en nl HP:0031448 rdfs:label Herpetiform vesicles Herpetiforme vesikels CANDIDATE -en nl HP:0031448 IAO:0000115 Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles NOT_TRANSLATED -en nl HP:0031449 rdfs:label Perineal hemangioma Perineaal hemangioom CANDIDATE -en nl HP:0031449 IAO:0000115 Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals NOT_TRANSLATED -en nl HP:0031450 rdfs:label Polycyclic Polycyclisch CANDIDATE -en nl HP:0031450 IAO:0000115 A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge NOT_TRANSLATED -en nl HP:0031451 rdfs:label Lower extremity subcutanous fat hypertrophy Onderste extremiteit subcutaan vet hypertrofie CANDIDATE -en nl HP:0031451 IAO:0000115 An abnormal increase in the amount of subcutaneous fat in the legs An abnormal increase in the amount of subcutaneous fat in the legs NOT_TRANSLATED -en nl HP:0031452 rdfs:label Lichenoid skin lesion Lichenoïde huidlaesie CANDIDATE -en nl HP:0031452 IAO:0000115 Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques NOT_TRANSLATED -en nl HP:0031453 rdfs:label Oral lichenoid lesion Orale lichenoïde leasie CANDIDATE -en nl HP:0031453 IAO:0000115 Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions NOT_TRANSLATED -en nl HP:0031454 rdfs:label Apocrine hidrocystoma Apocrien hidrocystoom CANDIDATE -en nl HP:0031454 IAO:0000115 A cystic lesions that forms a benign tumor of an apocrine sweat gland A cystic lesions that forms a benign tumor of an apocrine sweat gland NOT_TRANSLATED -en nl HP:0031455 rdfs:label Presacral ganglioneuroma Presacraal ganglioneuroom CANDIDATE -en nl HP:0031455 IAO:0000115 A gangioleneuroma originating from sympathetic ganglion cells in the abdomen A gangioleneuroma originating from sympathetic ganglion cells in the abdomen NOT_TRANSLATED -en nl HP:0031456 rdfs:label Ectopic pregnancy Ectopische zwangerschap CANDIDATE -en nl HP:0031456 IAO:0000115 A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube) A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube) NOT_TRANSLATED -en nl HP:0031457 rdfs:label Pulmonary opacity Pulmonale opaciteit CANDIDATE -en nl HP:0031457 IAO:0000115 Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality NOT_TRANSLATED -en nl HP:0031458 rdfs:label Adenoiditis Adenoïditis CANDIDATE -en nl HP:0031458 IAO:0000115 An inflammation of the adenoid tissue An inflammation of the adenoid tissue NOT_TRANSLATED -en nl HP:0031459 rdfs:label Soft tissue neoplasm Weke delen neoplasma CANDIDATE -en nl HP:0031459 IAO:0000115 A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms NOT_TRANSLATED -en nl HP:0031460 rdfs:label Benign muscle neoplasm Benigne spier neoplasma CANDIDATE -en nl HP:0031460 IAO:0000115 A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882] A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882] NOT_TRANSLATED -en nl HP:0031461 rdfs:label Intramuscular Myxoma Intramusculair myxoom CANDIDATE -en nl HP:0031461 IAO:0000115 A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy NOT_TRANSLATED -en nl HP:0031462 rdfs:label Musculotendinous retraction Musculotendineuze retractie CANDIDATE -en nl HP:0031462 IAO:0000115 Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue NOT_TRANSLATED -en nl HP:0031463 rdfs:label Esophageal squamous papilloma Oesofageale squameus papilloom CANDIDATE -en nl HP:0031463 IAO:0000115 A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia NOT_TRANSLATED -en nl HP:0031464 rdfs:label Genital blistering Genitale blaarvorming CANDIDATE -en nl HP:0031464 IAO:0000115 The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls NOT_TRANSLATED -en nl HP:0031465 rdfs:label Abnormal vasa vasorum morphology Afwijkende vasa vasorum morfologie CANDIDATE -en nl HP:0031465 IAO:0000115 A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products NOT_TRANSLATED -en nl HP:0031466 rdfs:label Impairment in personality functioning Stoornis in functioneren van persoonlijkheid CANDIDATE -en nl HP:0031466 IAO:0000115 A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning NOT_TRANSLATED -en nl HP:0031467 rdfs:label Negative affectivity Negatieve affectiviteit CANDIDATE -en nl HP:0031467 IAO:0000115 A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states NOT_TRANSLATED -en nl HP:0031468 rdfs:label Separation insecurity Separation insecurity NOT_TRANSLATED -en nl HP:0031468 IAO:0000115 Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy NOT_TRANSLATED -en nl HP:0031469 rdfs:label Low self esteem Negatief zelfbeeld CANDIDATE -en nl HP:0031469 IAO:0000115 Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself NOT_TRANSLATED -en nl HP:0031472 rdfs:label Risk taking Risico nemen CANDIDATE -en nl HP:0031472 IAO:0000115 Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger NOT_TRANSLATED -en nl HP:0031473 rdfs:label Hostility Vijandigheid CANDIDATE -en nl HP:0031473 IAO:0000115 Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults NOT_TRANSLATED -en nl HP:0031474 rdfs:label Pulmonary chondroma Pulmonaal chondroom CANDIDATE -en nl HP:0031474 IAO:0000115 A benign cartilaginous tumors of the lung A benign cartilaginous tumors of the lung NOT_TRANSLATED -en nl HP:0031475 rdfs:label Status epilepticus without prominent motor symptoms Non-convulsieve status epilepticus CANDIDATE -en nl HP:0031475 IAO:0000115 There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma NOT_TRANSLATED -en nl HP:0031476 rdfs:label Abnormal buccal mucosa cell morphology Afwijkende buccale mucosa cel morfologie CANDIDATE -en nl HP:0031476 IAO:0000115 Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells) Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells) NOT_TRANSLATED -en nl HP:0031478 rdfs:label Abnormal mitral valve annulus morphology Afwijkende mitralisannulus morfologie CANDIDATE -en nl HP:0031478 IAO:0000115 Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach NOT_TRANSLATED -en nl HP:0031479 rdfs:label Dilatation of the mitral annulus Dilatatie van de mitralisannulus CANDIDATE -en nl HP:0031479 IAO:0000115 An increase in the diameter of the ring (annulus) of the mitral valve An increase in the diameter of the ring (annulus) of the mitral valve NOT_TRANSLATED -en nl HP:0031480 rdfs:label Abnormal mitral valve leaflet morphology Abnormal mitral valve leaflet morphology NOT_TRANSLATED -en nl HP:0031480 IAO:0000115 Any structural anomaly of the leaflets (also known as cusps) of the mitral valve Any structural anomaly of the leaflets (also known as cusps) of the mitral valve NOT_TRANSLATED -en nl HP:0031481 rdfs:label Abnormal mitral valve physiology Afwijkende mitralisklep fysiologie CANDIDATE -en nl HP:0031481 IAO:0000115 Any functional anomaly of the mitral valve Any functional anomaly of the mitral valve NOT_TRANSLATED -en nl HP:0031482 rdfs:label Abnormal regional left ventricular contraction Afwijkende regionale linker ventrikel contractie CANDIDATE -en nl HP:0031482 IAO:0000115 A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle NOT_TRANSLATED -en nl HP:0031483 rdfs:label Reduced contraction of the left ventricular apex Reduced contraction of the left ventricular apex NOT_TRANSLATED -en nl HP:0031483 IAO:0000115 Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography NOT_TRANSLATED -en nl HP:0031484 rdfs:label Cold-induced hemolysis Koud-geïnduceerde hemolyse CANDIDATE -en nl HP:0031484 IAO:0000115 A form of hemolytic anemia that can be triggered by cold temperatures A form of hemolytic anemia that can be triggered by cold temperatures NOT_TRANSLATED -en nl HP:0031485 rdfs:label Subperiosteal bone formation Subperiosteale bot formatie CANDIDATE -en nl HP:0031485 IAO:0000115 The formation of new bone along the cortex and underneath the periosteum of a bone The formation of new bone along the cortex and underneath the periosteum of a bone NOT_TRANSLATED -en nl HP:0031486 rdfs:label Vascular malformation of the lip Vasculaire malformatie van de lip CANDIDATE -en nl HP:0031486 IAO:0000115 An anomaly of blood vessels located in the lip An anomaly of blood vessels located in the lip NOT_TRANSLATED -en nl HP:0031487 rdfs:label Capillary malformation of the lip Capillaire malformatie van de lip CANDIDATE -en nl HP:0031487 IAO:0000115 A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis NOT_TRANSLATED -en nl HP:0031488 rdfs:label Arteriovenous malformation of the lip Arterioveneuze malformatie van de lip CANDIDATE -en nl HP:0031488 IAO:0000115 A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus NOT_TRANSLATED -en nl HP:0031489 rdfs:label Venous malformation of the lip Veneuze malformatie van de lip CANDIDATE -en nl HP:0031489 IAO:0000115 A vascular malformation located in the lip that is related to abnormal vascular morphogenesis A vascular malformation located in the lip that is related to abnormal vascular morphogenesis NOT_TRANSLATED -en nl HP:0031490 rdfs:label Hemangioma of the lip Hemangioom van de lip CANDIDATE -en nl HP:0031490 IAO:0000115 A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia NOT_TRANSLATED -en nl HP:0031491 rdfs:label Continuous spike and waves during slow sleep Continuous spike and waves during slow sleep NOT_TRANSLATED -en nl HP:0031491 IAO:0000115 Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep NOT_TRANSLATED -en nl HP:0031492 rdfs:label Epithelial neoplasm Epitheliaal neoplasma CANDIDATE -en nl HP:0031492 IAO:0000115 A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709] A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709] NOT_TRANSLATED -en nl HP:0031493 rdfs:label Glandular cell neoplasm Glandular cell neoplasm NOT_TRANSLATED -en nl HP:0031493 IAO:0000115 A tumor that arises from a gland cell A tumor that arises from a gland cell NOT_TRANSLATED -en nl HP:0031494 rdfs:label Ovarian mucinous tumor Mucineus ovariumcarcinoom CANDIDATE -en nl HP:0031494 IAO:0000115 Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma NOT_TRANSLATED -en nl HP:0031495 rdfs:label Mucinous neoplasm Mucineus neoplasma CANDIDATE -en nl HP:0031496 rdfs:label Mucinous cystic neoplasm of the pancreas Mucineus cysteus neoplasma van de pancreas CANDIDATE -en nl HP:0031496 IAO:0000115 Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma NOT_TRANSLATED -en nl HP:0031497 rdfs:label Mucinous colorectal carcinoma Mucineus colorectaalcarcinoom CANDIDATE -en nl HP:0031497 IAO:0000115 A subtype of colorectal carcinoma with mucin lakes A subtype of colorectal carcinoma with mucin lakes NOT_TRANSLATED -en nl HP:0031498 rdfs:label Mucinous gastric carcinoma Mucineus maagcarcinoom CANDIDATE -en nl HP:0031498 IAO:0000115 A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor NOT_TRANSLATED -en nl HP:0031499 rdfs:label Appendiceal mucinous neoplasm Mucineus neoplasma van appendix CANDIDATE -en nl HP:0031499 IAO:0000115 An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles NOT_TRANSLATED -en nl HP:0031500 rdfs:label Abdominal mass Abdominale massa CANDIDATE -en nl HP:0031500 IAO:0000115 An abnormal enlargement or swelling in the abdomen An abnormal enlargement or swelling in the abdomen NOT_TRANSLATED -en nl HP:0031501 rdfs:label Pelvic mass Bekken massa CANDIDATE -en nl HP:0031501 IAO:0000115 An abnormal enlargement or swelling in the pelvic region An abnormal enlargement or swelling in the pelvic region NOT_TRANSLATED -en nl HP:0031502 rdfs:label Trophoblastic tumor Trofoblastische tumor CANDIDATE -en nl HP:0031502 IAO:0000115 A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422] A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422] NOT_TRANSLATED -en nl HP:0031503 rdfs:label Night gasping Night gasping NOT_TRANSLATED -en nl HP:0031503 IAO:0000115 Waking up at night gasping for breath Waking up at night gasping for breath NOT_TRANSLATED -en nl HP:0031504 rdfs:label Foamy urine Schuimende urine CANDIDATE -en nl HP:0031504 IAO:0000115 Urine has an increased amount of frothy fine bubbles Urine has an increased amount of frothy fine bubbles NOT_TRANSLATED -en nl HP:0031505 rdfs:label Abnormal circulating T4 concentration Afwijkend circulerend thyroxine niveau CANDIDATE -en nl HP:0031505 IAO:0000115 A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) NOT_TRANSLATED -en nl HP:0031506 rdfs:label Increased circulating T4 concentration Toegenomen circulerend thyroxine niveau CANDIDATE -en nl HP:0031506 IAO:0000115 An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) NOT_TRANSLATED -en nl HP:0031507 rdfs:label Decreased circulating T4 concentration Afgenomen circulerend thyroxine niveau CANDIDATE -en nl HP:0031507 IAO:0000115 A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) NOT_TRANSLATED -en nl HP:0031508 rdfs:label Abnormal circulating thyroid hormone concentration Afwijkend schildklierhormoon niveau CANDIDATE -en nl HP:0031508 IAO:0000115 Any deviation from the normal range of the hormones produced by the thyroid gland Any deviation from the normal range of the hormones produced by the thyroid gland NOT_TRANSLATED -en nl HP:0031509 rdfs:label Dry nipple Droge tepel CANDIDATE -en nl HP:0031509 IAO:0000115 Abnormally dry skin in the area of the nipple of the breast Abnormally dry skin in the area of the nipple of the breast NOT_TRANSLATED -en nl HP:0031510 rdfs:label Linear earlobe crease Lineaire oorlel plooi CANDIDATE -en nl HP:0031510 IAO:0000115 A transverse linear fissure (crease) in the lobule of the ear A transverse linear fissure (crease) in the lobule of the ear NOT_TRANSLATED -en nl HP:0031511 rdfs:label Diagonal earlobe crease Diagonale oorlel plooi CANDIDATE -en nl HP:0031511 IAO:0000115 Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees NOT_TRANSLATED -en nl HP:0031512 rdfs:label Abnormal cutaneous collagen fibril morphology Afwijkende cutane collageen fibril morfologie CANDIDATE -en nl HP:0031513 rdfs:label Luse bodies Luse bodies NOT_TRANSLATED -en nl HP:0031513 IAO:0000115 Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands NOT_TRANSLATED -en nl HP:0031514 rdfs:label Increased proportion of exhausted T cells Toegenomen proportie van uitgeputte T-cellen CANDIDATE -en nl HP:0031514 IAO:0000115 An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells NOT_TRANSLATED -en nl HP:0031515 rdfs:label Abnormal meiosis Abnormale meiose CANDIDATE -en nl HP:0031515 IAO:0000115 Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells NOT_TRANSLATED -en nl HP:0031516 rdfs:label Oocyte arrest at metaphase I Oocyte arrest at metaphase I NOT_TRANSLATED -en nl HP:0031516 IAO:0000115 Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage NOT_TRANSLATED -en nl HP:0031517 rdfs:label Verruciform xanthoma Verruciform xanthoom CANDIDATE -en nl HP:0031517 IAO:0000115 A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms NOT_TRANSLATED -en nl HP:0031518 rdfs:label Absent posterior alpha rhythm Afwezig posterieur alfa-ritme CANDIDATE -en nl HP:0031518 IAO:0000115 Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above NOT_TRANSLATED -en nl HP:0031519 rdfs:label Cauliflower deformity of dermal collagen fibrils Cauliflower deformity of dermal collagen fibrils NOT_TRANSLATED -en nl HP:0031519 IAO:0000115 An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy NOT_TRANSLATED -en nl HP:0031520 rdfs:label Groin pain Liespijn CANDIDATE -en nl HP:0031520 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region NOT_TRANSLATED -en nl HP:0031521 rdfs:label Vaginal clear cell adenocarcinoma Vaginaal clear cel adenocarcinoom CANDIDATE -en nl HP:0031521 IAO:0000115 A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm NOT_TRANSLATED -en nl HP:0031522 rdfs:label Cervical clear cell adenocarcinoma Clear cel adenocarcinoom van de cervix CANDIDATE -en nl HP:0031522 IAO:0000115 A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm NOT_TRANSLATED -en nl HP:0031523 rdfs:label Salivary gland oncocytoma Speekselklier oncocytoom CANDIDATE -en nl HP:0031523 IAO:0000115 A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) NOT_TRANSLATED -en nl HP:0031524 rdfs:label Ampulla of Vater carcinoma Papil van Vater carcinoom CANDIDATE -en nl HP:0031524 IAO:0000115 A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct NOT_TRANSLATED -en nl HP:0031525 rdfs:label Keratoacanthoma Keratoacanthoom CANDIDATE -en nl HP:0031525 IAO:0000115 Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals NOT_TRANSLATED -en nl HP:0031526 rdfs:label Subretinal fluid Subretinaal vocht CANDIDATE -en nl HP:0031526 IAO:0000115 Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane NOT_TRANSLATED -en nl HP:0031527 rdfs:label Intraretinal fluid Intraretinaal vocht CANDIDATE -en nl HP:0031527 IAO:0000115 Edema/fluid accumulating within the retinal layers Edema/fluid accumulating within the retinal layers NOT_TRANSLATED -en nl HP:0031528 rdfs:label Subretinal deposits Subretinale deposities CANDIDATE -en nl HP:0031528 IAO:0000115 Deposits accumulating between the outer retina and the retinal pigment epithelium Deposits accumulating between the outer retina and the retinal pigment epithelium NOT_TRANSLATED -en nl HP:0031529 rdfs:label Focal subretinal deposits Focale subretinale deposities CANDIDATE -en nl HP:0031529 IAO:0000115 Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution NOT_TRANSLATED -en nl HP:0031530 rdfs:label Multifocal subretinal deposits Multifocale subretinale deposities CANDIDATE -en nl HP:0031530 IAO:0000115 Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci NOT_TRANSLATED -en nl HP:0031531 rdfs:label Sub-RPE deposits Sub-RPE deposities CANDIDATE -en nl HP:0031531 IAO:0000115 Deposits accumulating between the retinal pigment epithelium and Bruch's membrane Deposits accumulating between the retinal pigment epithelium and Bruch's membrane NOT_TRANSLATED -en nl HP:0031532 rdfs:label Focal sub-RPE deposits Focale sub-RPE deposities CANDIDATE -en nl HP:0031532 IAO:0000115 Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus NOT_TRANSLATED -en nl HP:0031533 rdfs:label Multifocal sub-RPE deposits Multifocale sub-RPE deposities CANDIDATE -en nl HP:0031533 IAO:0000115 Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci NOT_TRANSLATED -en nl HP:0031534 rdfs:label Passive dorsiflexion of the 5th finger more than 90 degrees Passieve dorsaalflexie van de 5e vinger van meer dan 90 graden CANDIDATE -en nl HP:0031534 IAO:0000115 An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal NOT_TRANSLATED -en nl HP:0031535 rdfs:label Increased theta frequency activity in EEG Verhoogde thèta frequentie activiteit in het EEG CANDIDATE -en nl HP:0031535 IAO:0000115 Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution NOT_TRANSLATED -en nl HP:0031536 rdfs:label Separate origin of the left anterior descending and left circumflex artery Separate origin of the left anterior descending and left circumflex artery NOT_TRANSLATED -en nl HP:0031536 IAO:0000115 Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA) Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA) NOT_TRANSLATED -en nl HP:0031537 rdfs:label Anomalous origin of the left circumflex artery from the right coronary artery Anomalous origin of the left circumflex artery from the right coronary artery NOT_TRANSLATED -en nl HP:0031537 IAO:0000115 An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA) An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA) NOT_TRANSLATED -en nl HP:0031538 rdfs:label Abnormal dermoepidermal junction morphology Afwijkende dermo-epidermale kruising morfologie CANDIDATE -en nl HP:0031538 IAO:0000115 Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments NOT_TRANSLATED -en nl HP:0031539 rdfs:label Linear IgA deposits along the epidermal basement membrane zone Linear IgA deposits along the epidermal basement membrane zone NOT_TRANSLATED -en nl HP:0031539 IAO:0000115 Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy NOT_TRANSLATED -en nl HP:0031540 rdfs:label Linear IgG deposits along the epidermal basement membrane zone Linear IgG deposits along the epidermal basement membrane zone NOT_TRANSLATED -en nl HP:0031540 IAO:0000115 Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy NOT_TRANSLATED -en nl HP:0031541 rdfs:label Linear C3 deposits along the epidermal basement membrane zone Linear C3 deposits along the epidermal basement membrane zone NOT_TRANSLATED -en nl HP:0031541 IAO:0000115 Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy NOT_TRANSLATED -en nl HP:0031542 rdfs:label Myelin-like whorls in vacuolated fibers Myelin-like whorls in vacuolated fibers NOT_TRANSLATED -en nl HP:0031542 IAO:0000115 Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner NOT_TRANSLATED -en nl HP:0031544 rdfs:label Elevated circulating palmitoleylcarnitine concentration Verhoogd propionylcarnitine niveau CANDIDATE -en nl HP:0031544 IAO:0000115 An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency NOT_TRANSLATED -en nl HP:0031545 rdfs:label Abnormally low T cell receptor excision circle level Abnormally low T cell receptor excision circle level NOT_TRANSLATED -en nl HP:0031545 IAO:0000115 Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells NOT_TRANSLATED -en nl HP:0031546 rdfs:label Cardiac conduction abnormality Cardiale geleidings afwijking CANDIDATE -en nl HP:0031546 IAO:0000115 Any anomaly of the progression of electrical impulses through the heart Any anomaly of the progression of electrical impulses through the heart NOT_TRANSLATED -en nl HP:0031547 rdfs:label Abnormal QT interval Afwijkend QT-interval CANDIDATE -en nl HP:0031547 IAO:0000115 Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) NOT_TRANSLATED -en nl HP:0031548 rdfs:label Follicular infundibulum tumor Tumor van het folliculaire infundibulum CANDIDATE -en nl HP:0031548 IAO:0000115 A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma NOT_TRANSLATED -en nl HP:0031549 rdfs:label Lymphocytoma cutis Lymfocytoma cutis CANDIDATE -en nl HP:0031549 IAO:0000115 Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis NOT_TRANSLATED -en nl HP:0031550 rdfs:label Abnormal flow cytometry test result Abnormal flow cytometry test result NOT_TRANSLATED -en nl HP:0031550 IAO:0000115 Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules NOT_TRANSLATED -en nl HP:0031551 rdfs:label Reduced cell surface marker level Reduced cell surface marker level NOT_TRANSLATED -en nl HP:0031551 IAO:0000115 Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031552 rdfs:label Reduced fibroblast surface marker level Afwijkend fibroblast oppervlakte marker niveau CANDIDATE -en nl HP:0031552 IAO:0000115 Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031553 rdfs:label Reduced granulocyte surface marker level Afwijkend granulocyt oppervlakte marker niveau CANDIDATE -en nl HP:0031553 IAO:0000115 Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031554 rdfs:label Reduced granulocyte CD55 level Afwijkend granulocyt CD55 niveau CANDIDATE -en nl HP:0031554 IAO:0000115 Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031555 rdfs:label Reduced granulocyte CD59 level Verminderd granulocyt CD59 niveau CANDIDATE -en nl HP:0031555 IAO:0000115 Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031556 rdfs:label Reduced granulocyte CD16 level Verminderd granulocyt CD16 niveau CANDIDATE -en nl HP:0031556 IAO:0000115 Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031557 rdfs:label Reduced fibroblast CD55 level Verminderd fibroblast CD55 niveau CANDIDATE -en nl HP:0031557 IAO:0000115 Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031558 rdfs:label Reduced fibroblast CD59 level Verminderd fibroblast CD59 niveau CANDIDATE -en nl HP:0031558 IAO:0000115 Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031559 rdfs:label Reduced fibroblast CD16 level Verminderd fibroblast CD16 niveau CANDIDATE -en nl HP:0031559 IAO:0000115 Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED -en nl HP:0031560 rdfs:label Coronary cameral fistula Coronary cameral fistula NOT_TRANSLATED -en nl HP:0031560 IAO:0000115 An abnormal communication between coronary artery and a cardiac chamber An abnormal communication between coronary artery and a cardiac chamber NOT_TRANSLATED -en nl HP:0031561 rdfs:label Coronary cameral fistula to right ventricle Coronary cameral fistula to right ventricle NOT_TRANSLATED -en nl HP:0031561 IAO:0000115 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle NOT_TRANSLATED -en nl HP:0031562 rdfs:label Balanced double aortic arch Gebalanceerde dubbele aortaboog CANDIDATE -en nl HP:0031562 IAO:0000115 A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch NOT_TRANSLATED -en nl HP:0031563 rdfs:label Coronary arteriovenous fistula Coronaire arterioveneuze fistel CANDIDATE -en nl HP:0031563 IAO:0000115 An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation NOT_TRANSLATED -en nl HP:0031564 rdfs:label Bronchial isomerism Bronchiaal isomerisme CANDIDATE -en nl HP:0031564 IAO:0000115 An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism) An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism) NOT_TRANSLATED -en nl HP:0031565 rdfs:label Abdominal situs ambiguus Abdominale situs ambiguus CANDIDATE -en nl HP:0031565 IAO:0000115 An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements NOT_TRANSLATED -en nl HP:0031566 rdfs:label Abnormal pulmonary valve cusp morphology Afwijkende pulmonaalklep cusp morfologie CANDIDATE -en nl HP:0031566 IAO:0000115 Any structural anomaly of the pulmonary valve leaflets Any structural anomaly of the pulmonary valve leaflets NOT_TRANSLATED -en nl HP:0031567 rdfs:label Abnormal aortic valve cusp morphology Afwijkende aortaklep cusp morfologie CANDIDATE -en nl HP:0031567 IAO:0000115 Any structural anomaly of the aortic valve leaflets Any structural anomaly of the aortic valve leaflets NOT_TRANSLATED -en nl HP:0031568 rdfs:label Thickened aortic valve cusp Verikte aortaklep cusp CANDIDATE -en nl HP:0031568 IAO:0000115 An abnormally increased thickness of a leaflet of the aortic valve An abnormally increased thickness of a leaflet of the aortic valve NOT_TRANSLATED -en nl HP:0031569 rdfs:label Absent aortic valve cusps Afwezige aortaklep cusps CANDIDATE -en nl HP:0031569 IAO:0000115 A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva NOT_TRANSLATED -en nl HP:0031570 rdfs:label Tessier number 0 facial cleft Aangezichtsspleet Tessier nummer 0 CANDIDATE -en nl HP:0031570 IAO:0000115 A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension NOT_TRANSLATED -en nl HP:0031571 rdfs:label Paramedian facial cleft Paramediane faciale schisis CANDIDATE -en nl HP:0031571 IAO:0000115 A type of facial cleft located near to but not directly on the midline of the face A type of facial cleft located near to but not directly on the midline of the face NOT_TRANSLATED -en nl HP:0031572 rdfs:label Tessier number 1 facial cleft Aangezichtsspleet Tessier nummer 1 CANDIDATE -en nl HP:0031572 IAO:0000115 As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly NOT_TRANSLATED -en nl HP:0031573 rdfs:label Tessier number 2 facial cleft Aangezichtsspleet Tessier nummer 2 CANDIDATE -en nl HP:0031573 IAO:0000115 As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening NOT_TRANSLATED -en nl HP:0031574 rdfs:label Orbital cleft Orbitale schisis CANDIDATE -en nl HP:0031574 IAO:0000115 A facial cleft characterized by involvement of the orbit A facial cleft characterized by involvement of the orbit NOT_TRANSLATED -en nl HP:0031575 rdfs:label Tessier number 3 facial cleft Aangezichtsspleet Tessier nummer 3 CANDIDATE -en nl HP:0031575 IAO:0000115 As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced NOT_TRANSLATED -en nl HP:0031576 rdfs:label Tessier number 4 facial cleft Aangezichtsspleet Tessier nummer 4 CANDIDATE -en nl HP:0031576 IAO:0000115 The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly NOT_TRANSLATED -en nl HP:0031577 rdfs:label Tessier number 5 facial cleft Aangezichtsspleet Tessier nummer 5 CANDIDATE -en nl HP:0031577 IAO:0000115 The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium NOT_TRANSLATED -en nl HP:0031578 rdfs:label Tessier number 6 facial cleft Aangezichtsspleet Tessier nummer 6 CANDIDATE -en nl HP:0031578 IAO:0000115 A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid NOT_TRANSLATED -en nl HP:0031579 rdfs:label Tessier number 7 facial cleft Aangezichtsspleet Tessier nummer 7 CANDIDATE -en nl HP:0031579 IAO:0000115 The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate NOT_TRANSLATED -en nl HP:0031580 rdfs:label Tessier number 8 facial cleft Aangezichtsspleet Tessier nummer 8 CANDIDATE -en nl HP:0031580 IAO:0000115 The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae NOT_TRANSLATED -en nl HP:0031581 rdfs:label Tessier number 9 facial cleft Aangezichtsspleet Tessier nummer 9 CANDIDATE -en nl HP:0031581 IAO:0000115 This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa NOT_TRANSLATED -en nl HP:0031582 rdfs:label Tessier number 10 facial cleft Aangezichtsspleet Tessier nummer 10 CANDIDATE -en nl HP:0031582 IAO:0000115 In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric NOT_TRANSLATED -en nl HP:0031583 rdfs:label Tessier number 11 facial cleft Aangezichtsspleet Tessier nummer 11 CANDIDATE -en nl HP:0031583 IAO:0000115 An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal NOT_TRANSLATED -en nl HP:0031584 rdfs:label Tessier number 12 facial cleft Aangezichtsspleet Tessier nummer 12 CANDIDATE -en nl HP:0031584 IAO:0000115 There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate NOT_TRANSLATED -en nl HP:0031585 rdfs:label Tessier number 13 facial cleft Aangezichtsspleet Tessier nummer 13 CANDIDATE -en nl HP:0031585 IAO:0000115 There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above NOT_TRANSLATED -en nl HP:0031586 rdfs:label Tessier number 14 facial cleft Aangezichtsspleet Tessier nummer 14 CANDIDATE -en nl HP:0031586 IAO:0000115 This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan NOT_TRANSLATED -en nl HP:0031587 rdfs:label Tessier number 30 facial cleft Aangezichtsspleet Tessier nummer 30 CANDIDATE -en nl HP:0031587 IAO:0000115 A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis NOT_TRANSLATED -en nl HP:0031588 rdfs:label Unhappy demeanor Ongelukkig gedrag CANDIDATE -en nl HP:0031588 IAO:0000115 A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events NOT_TRANSLATED -en nl HP:0031589 rdfs:label Suicidal ideation Suïcidale gedachten CANDIDATE -en nl HP:0031589 IAO:0000115 Frequent thinking about or preoccupation with killing oneself Frequent thinking about or preoccupation with killing oneself NOT_TRANSLATED -en nl HP:0031590 rdfs:label Asthenopia Asthenopie CANDIDATE -en nl HP:0031590 IAO:0000115 Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache NOT_TRANSLATED -en nl HP:0031591 rdfs:label Enlarged Eustachian valve Vergrote klep van Eustachius CANDIDATE -en nl HP:0031591 IAO:0000115 An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava NOT_TRANSLATED -en nl HP:0031592 rdfs:label Situs inversus with levocardia Situs inversus met levocardie CANDIDATE -en nl HP:0031592 IAO:0000115 Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia NOT_TRANSLATED -en nl HP:0031593 rdfs:label Abnormal PR interval Afwijkend PR-interval CANDIDATE -en nl HP:0031593 IAO:0000115 An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds NOT_TRANSLATED -en nl HP:0031594 rdfs:label PR segment depression PR-segment depressie CANDIDATE -en nl HP:0031594 IAO:0000115 A reduction in voltage of the PR segment below baseline A reduction in voltage of the PR segment below baseline NOT_TRANSLATED -en nl HP:0031595 rdfs:label Abnormal P wave Afwijkende P-golf CANDIDATE -en nl HP:0031595 IAO:0000115 Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria NOT_TRANSLATED -en nl HP:0031596 rdfs:label Abnormal PR segment Afwijkend PR-segment CANDIDATE -en nl HP:0031596 IAO:0000115 An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric NOT_TRANSLATED -en nl HP:0031597 rdfs:label PR segment elevation PR-segment elevatie CANDIDATE -en nl HP:0031597 IAO:0000115 An increase in voltage of the PR segment above baseline An increase in voltage of the PR segment above baseline NOT_TRANSLATED -en nl HP:0031598 rdfs:label Notched P wave Notched P wave NOT_TRANSLATED -en nl HP:0031598 IAO:0000115 V-shaped cut (notch) in the middle of the P wave V-shaped cut (notch) in the middle of the P wave NOT_TRANSLATED -en nl HP:0031599 rdfs:label P mitrale P mitrale CANDIDATE -en nl HP:0031599 IAO:0000115 A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II NOT_TRANSLATED -en nl HP:0031600 rdfs:label P wave inversion Inversie van de P-golf CANDIDATE -en nl HP:0031600 IAO:0000115 P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves NOT_TRANSLATED -en nl HP:0031601 rdfs:label P pulmonale P pulmonale CANDIDATE -en nl HP:0031601 IAO:0000115 The presence of tall, peaked P waves in EKG lead II The presence of tall, peaked P waves in EKG lead II NOT_TRANSLATED -en nl HP:0031602 rdfs:label Abnormal mucociliary clearance Afwijkende mucociliaire klaring CANDIDATE -en nl HP:0031602 IAO:0000115 An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating NOT_TRANSLATED -en nl HP:0031603 rdfs:label Impaired nasal mucociliary clearance Verminderde nasale mucociliaire klaring CANDIDATE -en nl HP:0031603 IAO:0000115 An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes NOT_TRANSLATED -en nl HP:0031604 rdfs:label Agenesis of the carotid canal Agenesie van de canalis caroticus CANDIDATE -en nl HP:0031604 IAO:0000115 A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse NOT_TRANSLATED -en nl HP:0031605 rdfs:label Abnormality of fundus pigmentation Afwijking van de fundus pigmentatie CANDIDATE -en nl HP:0031605 IAO:0000115 Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve NOT_TRANSLATED -en nl HP:0031606 rdfs:label Retinal cotton wool spot Retinal cotton wool spot NOT_TRANSLATED -en nl HP:0031606 IAO:0000115 Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED -en nl HP:0031607 rdfs:label Pelvic organ prolapse Bekkenorgaan prolaps CANDIDATE -en nl HP:0031607 IAO:0000115 Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position NOT_TRANSLATED -en nl HP:0031609 rdfs:label Geographic atrophy Geografische atrofie CANDIDATE -en nl HP:0031609 IAO:0000115 Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium NOT_TRANSLATED -en nl HP:0031610 rdfs:label Recurrent shoulder dislocation Recidiverende schouder dislocatie CANDIDATE -en nl HP:0031610 IAO:0000115 Shoulder dislocation occurring repeated times Shoulder dislocation occurring repeated times NOT_TRANSLATED -en nl HP:0031611 rdfs:label Sub-inner limiting membrane hemorrhage Sub-inner limiting membrane hemorrhage NOT_TRANSLATED -en nl HP:0031611 IAO:0000115 A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer NOT_TRANSLATED -en nl HP:0031613 rdfs:label Inferior chorioretinal coloboma Inferieur chorioretinaal coloboom CANDIDATE -en nl HP:0031613 IAO:0000115 Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus NOT_TRANSLATED -en nl HP:0031614 rdfs:label Inferior retinal coloboma Inferieur retinaal coloboom CANDIDATE -en nl HP:0031614 IAO:0000115 A notch or cleft of the lower part of the retina A notch or cleft of the lower part of the retina NOT_TRANSLATED -en nl HP:0031615 rdfs:label Hypopyon Hypopyon CANDIDATE -en nl HP:0031615 IAO:0000115 Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber NOT_TRANSLATED -en nl HP:0031616 rdfs:label Anterior chamber flare Flare in voorste oogkamer CANDIDATE -en nl HP:0031616 IAO:0000115 An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber NOT_TRANSLATED -en nl HP:0031618 rdfs:label Anterior chamber flare grade 1+ Flare in voorste oogkamer graad 1+ CANDIDATE -en nl HP:0031618 IAO:0000115 Faint anterior chamber flare Faint anterior chamber flare NOT_TRANSLATED -en nl HP:0031619 rdfs:label Anterior chamber flare grade 2+ Flare in voorste oogkamer graad 2+ CANDIDATE -en nl HP:0031619 IAO:0000115 Moderate anterior chamber flare (iris and lens details clear) Moderate anterior chamber flare (iris and lens details clear) NOT_TRANSLATED -en nl HP:0031620 rdfs:label Anterior chamber flare grade 3+ Flare in voorste oogkamer graad 3+ CANDIDATE -en nl HP:0031620 IAO:0000115 Marked anterior chamber flare (iris and lens details hazy) Marked anterior chamber flare (iris and lens details hazy) NOT_TRANSLATED -en nl HP:0031621 rdfs:label Anterior chamber flare grade 4+ Flare in voorste oogkamer graad 4+ CANDIDATE -en nl HP:0031621 IAO:0000115 Intense anterior chamber flare (fibrin/plastic aqueous) Intense anterior chamber flare (fibrin/plastic aqueous) NOT_TRANSLATED -en nl HP:0031622 rdfs:label Brown anomaly Brown anomaly NOT_TRANSLATED -en nl HP:0031622 IAO:0000115 An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result NOT_TRANSLATED -en nl HP:0031623 rdfs:label Brow ptosis Brow ptosis CANDIDATE -en nl HP:0031623 IAO:0000115 Drooping of the upper eyebrow below the superior orbital rim Drooping of the upper eyebrow below the superior orbital rim NOT_TRANSLATED -en nl HP:0031624 rdfs:label Moderate myopia Matige myopie CANDIDATE -en nl HP:0031624 IAO:0000115 A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters NOT_TRANSLATED -en nl HP:0031625 rdfs:label Pseudoaneurysm Pseudo-aneurysma CANDIDATE -en nl HP:0031625 IAO:0000115 A contained rupture of an artery with a disruption in all 3 layers of the arterial wall A contained rupture of an artery with a disruption in all 3 layers of the arterial wall NOT_TRANSLATED -en nl HP:0031626 rdfs:label Coronary ostial atresia Coronaire ostiale atresie CANDIDATE -en nl HP:0031626 IAO:0000115 Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve NOT_TRANSLATED -en nl HP:0031627 rdfs:label Globus pallidus calcification Globus pallidus calcificatie CANDIDATE -en nl HP:0031627 IAO:0000115 Pathological deposition of calcium salts in the globus pallidus Pathological deposition of calcium salts in the globus pallidus NOT_TRANSLATED -en nl HP:0031628 rdfs:label Aborted sudden cardiac death Aborted sudden cardiac death NOT_TRANSLATED -en nl HP:0031628 IAO:0000115 Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it NOT_TRANSLATED -en nl HP:0031629 rdfs:label Impaired tandem gait Impaired tandem gait NOT_TRANSLATED -en nl HP:0031629 IAO:0000115 Reduced ability to walk in a straight line while placing the feet heel to toe Reduced ability to walk in a straight line while placing the feet heel to toe NOT_TRANSLATED -en nl HP:0031630 rdfs:label Abnormal subpleural morphology Afwijkende subpleurale morfologie CANDIDATE -en nl HP:0031630 IAO:0000115 Any structural anomaly located between the pleura and the chest wall Any structural anomaly located between the pleura and the chest wall NOT_TRANSLATED -en nl HP:0031631 rdfs:label Subpleural honeycombing Subpleural honeycombing NOT_TRANSLATED -en nl HP:0031631 IAO:0000115 So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space NOT_TRANSLATED -en nl HP:0031632 rdfs:label Anomalous origin of the right subclavian artery from the descending aorta Afwijkende oorsprong van de rechter arteria subclavia van aorta descendens CANDIDATE -en nl HP:0031632 IAO:0000115 Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery NOT_TRANSLATED -en nl HP:0031633 rdfs:label Isolation of the left subclavian artery Isolatie van de arteria subclavia links CANDIDATE -en nl HP:0031633 IAO:0000115 The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus NOT_TRANSLATED -en nl HP:0031634 rdfs:label Anomalous origin of the left common carotid artery from the main pulmonary artery Afwijkende oorsprong van linker arteria carotis communis van de arteria pulmonalis CANDIDATE -en nl HP:0031634 IAO:0000115 The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery NOT_TRANSLATED -en nl HP:0031635 rdfs:label Anomalous origin of the left common carotid artery from the brachiocephalic artery Afwijkende oorsprong van linker arteria carotis communis van de truncus brachiocephalicus CANDIDATE -en nl HP:0031635 IAO:0000115 The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery NOT_TRANSLATED -en nl HP:0031636 rdfs:label Anomalous origin of the right common carotid artery from the aorta Afwijkende oorsprong van rechter arteria carotis communis van de aorta CANDIDATE -en nl HP:0031636 IAO:0000115 The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta NOT_TRANSLATED -en nl HP:0031637 rdfs:label Right coronary artery ostial atresia Rechter coronair arteriële ostiale atresie CANDIDATE -en nl HP:0031637 IAO:0000115 Absence of the normal opening of the coronary ostium from which the right main coronary artery originates Absence of the normal opening of the coronary ostium from which the right main coronary artery originates NOT_TRANSLATED -en nl HP:0031638 rdfs:label Anomalous origin of the left anterior descending artery from the pulmonary artery Anomalous origin of the left anterior descending artery from the pulmonary artery NOT_TRANSLATED -en nl HP:0031638 IAO:0000115 The left anterior descending artery (LAD) branches off from the pulmonary artery The left anterior descending artery (LAD) branches off from the pulmonary artery NOT_TRANSLATED -en nl HP:0031639 rdfs:label Absent left main coronary artery Absent left main coronary artery NOT_TRANSLATED -en nl HP:0031639 IAO:0000115 The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava NOT_TRANSLATED -en nl HP:0031640 rdfs:label Abnormal radial artery morphology Afwijkende arteria radialis morfologie CANDIDATE -en nl HP:0031640 IAO:0000115 Any structural anomaly of the radial artery Any structural anomaly of the radial artery NOT_TRANSLATED -en nl HP:0031643 rdfs:label Fusiform ascending tubular aorta aneurysm Fusiform tubulaire aorta ascendens aneurysma CANDIDATE -en nl HP:0031643 IAO:0000115 A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall NOT_TRANSLATED -en nl HP:0031644 rdfs:label Fusiform abdominal aortic aneurysm Fusiform abdominaal aorta aneurysma CANDIDATE -en nl HP:0031644 IAO:0000115 A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall NOT_TRANSLATED -en nl HP:0031645 rdfs:label Saccular abdominal aortic aneurysm Sacculair abdominaal aorta aneurysma CANDIDATE -en nl HP:0031645 IAO:0000115 An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall NOT_TRANSLATED -en nl HP:0031646 rdfs:label Fusiform aortic arch aneurysm Fusiform aortaboog aneurysma CANDIDATE -en nl HP:0031646 IAO:0000115 A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall NOT_TRANSLATED -en nl HP:0031647 rdfs:label Saccular aortic arch aneurysm Sacculair aortaboog aneurysma CANDIDATE -en nl HP:0031647 IAO:0000115 An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall NOT_TRANSLATED -en nl HP:0031648 rdfs:label Penetrating aortic ulcer Penetrerend aorta ulcus CANDIDATE -en nl HP:0031648 IAO:0000115 A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture NOT_TRANSLATED -en nl HP:0031649 rdfs:label Aortic rupture Aorta ruptuur CANDIDATE -en nl HP:0031649 IAO:0000115 Tearing of the aortic wall generally associated with profuse internal bleeding Tearing of the aortic wall generally associated with profuse internal bleeding NOT_TRANSLATED -en nl HP:0031650 rdfs:label Abnormal atrioventricular valve physiology Afwijkende atrioventriculaire klep fysiologie CANDIDATE -en nl HP:0031650 IAO:0000115 Any functional defect of the mitral or tricuspid valve Any functional defect of the mitral or tricuspid valve NOT_TRANSLATED -en nl HP:0031651 rdfs:label Abnormal tricuspid valve physiology Afwijkende tricuspidalisklep fysiologie CANDIDATE -en nl HP:0031651 IAO:0000115 Any functional defect of the tricuspid valve Any functional defect of the tricuspid valve NOT_TRANSLATED -en nl HP:0031652 rdfs:label Abnormal aortic valve physiology Afwijkende aortaklep fysiologie CANDIDATE -en nl HP:0031653 rdfs:label Abnormal heart valve physiology Afwijkende hartklep fysiologie CANDIDATE -en nl HP:0031653 IAO:0000115 Any functional abnormality of a cardiac valve Any functional abnormality of a cardiac valve NOT_TRANSLATED -en nl HP:0031654 rdfs:label Abnormal pulmonary valve physiology Afwijkende pulmonaalklep fysiologie CANDIDATE -en nl HP:0031654 IAO:0000115 Any functional anomaly of the pumonary valve Any functional anomaly of the pumonary valve NOT_TRANSLATED -en nl HP:0031655 rdfs:label Quadricuspid aortic valve Quadricuspide aortaklep CANDIDATE -en nl HP:0031655 IAO:0000115 The presence of an aortic valve with four instead of the normal three cusps (flaps) The presence of an aortic valve with four instead of the normal three cusps (flaps) NOT_TRANSLATED -en nl HP:0031656 rdfs:label Systolic anterior motion of the mitral valve Systolic anterior motion of the mitral valve NOT_TRANSLATED -en nl HP:0031656 IAO:0000115 Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole NOT_TRANSLATED -en nl HP:0031657 rdfs:label Abnormal heart sound Afwijkende harttoon CANDIDATE -en nl HP:0031657 IAO:0000115 Any abnormal noise generated by the beating heart Any abnormal noise generated by the beating heart NOT_TRANSLATED -en nl HP:0031658 rdfs:label Third heart sound Derde harttoon CANDIDATE -en nl HP:0031658 IAO:0000115 The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients NOT_TRANSLATED -en nl HP:0031659 rdfs:label Fourth heart sound Vierde harttoon CANDIDATE -en nl HP:0031659 IAO:0000115 The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction NOT_TRANSLATED -en nl HP:0031660 rdfs:label Loud first heart sound Luide eerste harttoon CANDIDATE -en nl HP:0031660 IAO:0000115 Abnormally increased volume of the first heart sound Abnormally increased volume of the first heart sound NOT_TRANSLATED -en nl HP:0031661 rdfs:label Abnormal second heart sound Afwijkende tweede harttoon CANDIDATE -en nl HP:0031661 IAO:0000115 Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration NOT_TRANSLATED -en nl HP:0031662 rdfs:label Fixed splitting of the second heart sound Gefixeerde splijting van tweede harttoon CANDIDATE -en nl HP:0031662 IAO:0000115 Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration NOT_TRANSLATED -en nl HP:0031663 rdfs:label Paradoxical splitting of the second heart sound Paradoxale splijting van tweede harttoon CANDIDATE -en nl HP:0031663 IAO:0000115 Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern) Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern) NOT_TRANSLATED -en nl HP:0031664 rdfs:label Systolic heart murmur Systolische souffle CANDIDATE -en nl HP:0031664 IAO:0000115 A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2 A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2 NOT_TRANSLATED -en nl HP:0031665 rdfs:label Midsystolic murmur Midsystolische souffle CANDIDATE -en nl HP:0031665 IAO:0000115 A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern NOT_TRANSLATED -en nl HP:0031666 rdfs:label Late systolic murmur Laatsystolische souffle CANDIDATE -en nl HP:0031666 IAO:0000115 A murmur that occurs in the latter phase of systole A murmur that occurs in the latter phase of systole NOT_TRANSLATED -en nl HP:0031667 rdfs:label Holosystolic murmur Holosystolische souffle CANDIDATE -en nl HP:0031667 IAO:0000115 A heart murmur that occurs during the entire systolic phase from S1 to S2 A heart murmur that occurs during the entire systolic phase from S1 to S2 NOT_TRANSLATED -en nl HP:0031668 rdfs:label Diastolic heart murmur Diasystolische souffle CANDIDATE -en nl HP:0031668 IAO:0000115 A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1 A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1 NOT_TRANSLATED -en nl HP:0031669 rdfs:label Middiastolic murmur Middiasystolische souffle CANDIDATE -en nl HP:0031669 IAO:0000115 A murmur that occurs in the middle of the diastolic phase A murmur that occurs in the middle of the diastolic phase NOT_TRANSLATED -en nl HP:0031670 rdfs:label Continuous heart murmur Continue souffle CANDIDATE -en nl HP:0031670 IAO:0000115 A murmur that occurs in both systole and diastole A murmur that occurs in both systole and diastole NOT_TRANSLATED -en nl HP:0031671 rdfs:label Typical atrial flutter Typische atriale flutter CANDIDATE -en nl HP:0031671 IAO:0000115 Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative NOT_TRANSLATED -en nl HP:0031672 rdfs:label Reverse typical atrial flutter Reverse typical atrial flutter NOT_TRANSLATED -en nl HP:0031672 IAO:0000115 A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1 A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1 NOT_TRANSLATED -en nl HP:0031673 rdfs:label Orthodromic atrioventricular reentrant tachycardia Orthodromische atrioventriculaire re-entry tachycardie CANDIDATE -en nl HP:0031673 IAO:0000115 A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction NOT_TRANSLATED -en nl HP:0031674 rdfs:label Antidromic atrioventricular reentrant tachycardia Antidromische atrioventriculaire re-entry tachycardie CANDIDATE -en nl HP:0031674 IAO:0000115 A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction NOT_TRANSLATED -en nl HP:0031675 rdfs:label Fascicular left ventricular tachycardia Fasciculaire linker ventriculaire tachycardie CANDIDATE -en nl HP:0031675 IAO:0000115 A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG) A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG) NOT_TRANSLATED -en nl HP:0031676 rdfs:label Monomorphic ventricular tachycardia Monomorfische ventriculaire tachycardie CANDIDATE -en nl HP:0031676 IAO:0000115 A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so) A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so) NOT_TRANSLATED -en nl HP:0031677 rdfs:label Polymorphic ventricular tachycardia Polymorfe ventriculaire tachycardie CANDIDATE -en nl HP:0031677 IAO:0000115 A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat) A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat) NOT_TRANSLATED -en nl HP:0031678 rdfs:label Atherosclerotic lesion Atherosclerotische laesie CANDIDATE -en nl HP:0031678 IAO:0000115 A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus NOT_TRANSLATED -en nl HP:0031679 rdfs:label Type I atherosclerotic lesion Type IV atherosclerotische laesie CANDIDATE -en nl HP:0031679 IAO:0000115 Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells) Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells) NOT_TRANSLATED -en nl HP:0031680 rdfs:label Type II atherosclerotic lesion Type II atherosclerotische laesie CANDIDATE -en nl HP:0031680 IAO:0000115 Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid NOT_TRANSLATED -en nl HP:0031681 rdfs:label Type III atherosclerotic lesion Type III atherosclerotische laesie CANDIDATE -en nl HP:0031681 IAO:0000115 Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions NOT_TRANSLATED -en nl HP:0031682 rdfs:label Type V atherosclerotic lesion Type V atherosclerotische laesie CANDIDATE -en nl HP:0031682 IAO:0000115 Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant NOT_TRANSLATED -en nl HP:0031683 rdfs:label Type VI atherosclerotic lesion Type VI atherosclerotische laesie CANDIDATE -en nl HP:0031683 IAO:0000115 Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes NOT_TRANSLATED -en nl HP:0031684 rdfs:label Renal artery atherosclerosis Atherosclerose van arteria renalis CANDIDATE -en nl HP:0031684 IAO:0000115 An atherosclerotic lesion located in the renal artery An atherosclerotic lesion located in the renal artery NOT_TRANSLATED -en nl HP:0031685 rdfs:label Abnormal stool composition Afwijkende ontlasting samenstelling CANDIDATE -en nl HP:0031685 IAO:0000115 Abnormal level of metabolite or other abnormal analyte result in a stool test Abnormal level of metabolite or other abnormal analyte result in a stool test NOT_TRANSLATED -en nl HP:0031686 rdfs:label Increased stool alpha1-antitrypsin concentration Afwijkende ontlasting alfa1-antitrypsine concentratie CANDIDATE -en nl HP:0031686 IAO:0000115 An abnormally elevated amount of alpha1-antitrypsin in the feces An abnormally elevated amount of alpha1-antitrypsin in the feces NOT_TRANSLATED -en nl HP:0031687 rdfs:label Abnormally loud pulmonic component of the second heart sound Abnormaal luide pulmonale component van de tweede harttoon CANDIDATE -en nl HP:0031688 rdfs:label Erythroid dysplasia Erythroïde dysplasie CANDIDATE -en nl HP:0031688 IAO:0000115 Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts NOT_TRANSLATED -en nl HP:0031689 rdfs:label Megakaryocyte dysplasia Megakaryocytaire dysplasie CANDIDATE -en nl HP:0031689 IAO:0000115 The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei NOT_TRANSLATED -en nl HP:0031690 rdfs:label Opportunistic infection Opportunistische infectie CANDIDATE -en nl HP:0031690 IAO:0000115 An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system NOT_TRANSLATED -en nl HP:0031691 rdfs:label Severe viral infection Ernstige virale infectie CANDIDATE -en nl HP:0031691 IAO:0000115 An unusually severe viral infection An unusually severe viral infection NOT_TRANSLATED -en nl HP:0031692 rdfs:label Severe cytomegalovirus infection Ernstige cytomegalovirus infectie CANDIDATE -en nl HP:0031692 IAO:0000115 An unusually severe infection by cytomegalovirus An unusually severe infection by cytomegalovirus NOT_TRANSLATED -en nl HP:0031693 rdfs:label Severe Epstein Barr virus infection Ernstige EBV infectie CANDIDATE -en nl HP:0031693 IAO:0000115 An unusually severe Epstein Barr virus (EBV) infection An unusually severe Epstein Barr virus (EBV) infection NOT_TRANSLATED -en nl HP:0031694 rdfs:label Severe adenovirus infection Ernstige adenovirus infectie CANDIDATE -en nl HP:0031694 IAO:0000115 An unusually severe adenovirus infection An unusually severe adenovirus infection NOT_TRANSLATED -en nl HP:0031695 rdfs:label Severe parainfluenza infection Ernstige parainfluenza infectie CANDIDATE -en nl HP:0031695 IAO:0000115 An unusually severe infection by a parainfluenza virus An unusually severe infection by a parainfluenza virus NOT_TRANSLATED -en nl HP:0031696 rdfs:label Disseminated viral infection Gedissemineerde virale infectie CANDIDATE -en nl HP:0031696 IAO:0000115 A viral infection that fails to be contained by the immune sytem and spreads throughout the body A viral infection that fails to be contained by the immune sytem and spreads throughout the body NOT_TRANSLATED -en nl HP:0031697 rdfs:label Disseminated infection with live vaccine virus Gedissemineerde infectie met levend vaccinvirus CANDIDATE -en nl HP:0031697 IAO:0000115 A dissemination viral infection caused by a live attenuated vaccine virus A dissemination viral infection caused by a live attenuated vaccine virus NOT_TRANSLATED -en nl HP:0031699 rdfs:label Disseminated cryptosporidium infection Gedissemineerde cryptosporidium-infectie CANDIDATE -en nl HP:0031699 IAO:0000115 Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body NOT_TRANSLATED -en nl HP:0031700 rdfs:label Invasive parasitic infection Invasieve parasitaire infectie CANDIDATE -en nl HP:0031700 IAO:0000115 A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host NOT_TRANSLATED -en nl HP:0031701 rdfs:label Anterior chamber inflammatory cells Ontstekingscellen in voorste oogkamer CANDIDATE -en nl HP:0031701 IAO:0000115 The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye NOT_TRANSLATED -en nl HP:0031702 rdfs:label Anterior chamber red blood cells Rode bloedcellen in voorste oogkamer CANDIDATE -en nl HP:0031702 IAO:0000115 The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye NOT_TRANSLATED -en nl HP:0031703 rdfs:label Abnormal ear morphology Afwijkende oor morfologie CANDIDATE -en nl HP:0031703 IAO:0000115 Any structural anomaly of the ear Any structural anomaly of the ear NOT_TRANSLATED -en nl HP:0031704 rdfs:label Abnormal ear physiology Afwijkende oor fysiologie CANDIDATE -en nl HP:0031704 IAO:0000115 Any functional anomaly of the ear Any functional anomaly of the ear NOT_TRANSLATED -en nl HP:0031705 rdfs:label Compensatory head posture Compenserende hoofd houding CANDIDATE -en nl HP:0031705 IAO:0000115 A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem NOT_TRANSLATED -en nl HP:0031706 rdfs:label Compensatory chin depression Compenserende kin depressie CANDIDATE -en nl HP:0031706 IAO:0000115 A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement NOT_TRANSLATED -en nl HP:0031707 rdfs:label Compensatory face turn to the right Compenserende draai van het gezicht naar rechts CANDIDATE -en nl HP:0031707 IAO:0000115 A tendency to turn the face to the right to compensate for a limitation of eye movement A tendency to turn the face to the right to compensate for a limitation of eye movement NOT_TRANSLATED -en nl HP:0031708 rdfs:label Compensatory face turn to the left Compenserende draai van het gezicht naar links CANDIDATE -en nl HP:0031708 IAO:0000115 A tendency to turn the face to the left to compensate for a limitation of eye movement A tendency to turn the face to the left to compensate for a limitation of eye movement NOT_TRANSLATED -en nl HP:0031709 rdfs:label Compensatory head tilt to the right shoulder Compenserende kanteling van het hoofd naar de rechter schouder CANDIDATE -en nl HP:0031709 IAO:0000115 A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement NOT_TRANSLATED -en nl HP:0031710 rdfs:label Compensatory head tilt to the left shoulder Compenserende kanteling van het hoofd naar de linker schouder CANDIDATE -en nl HP:0031710 IAO:0000115 A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement NOT_TRANSLATED -en nl HP:0031711 rdfs:label Asymmetric abdominal aortic aneurysm Asymmetrisch abdominaal aorta aneurysma CANDIDATE -en nl HP:0031711 IAO:0000115 An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric) An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric) NOT_TRANSLATED -en nl HP:0031713 rdfs:label Constant exotropia Constante exotropie CANDIDATE -en nl HP:0031713 IAO:0000115 A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times NOT_TRANSLATED -en nl HP:0031714 rdfs:label Distance exotropia Distance exotropia NOT_TRANSLATED -en nl HP:0031714 IAO:0000115 A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent NOT_TRANSLATED -en nl HP:0031715 rdfs:label Near exotropia Near exotropia NOT_TRANSLATED -en nl HP:0031715 IAO:0000115 An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant) An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant) NOT_TRANSLATED -en nl HP:0031716 rdfs:label Cyclic exotropia Cyclische exotropie CANDIDATE -en nl HP:0031716 IAO:0000115 A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle NOT_TRANSLATED -en nl HP:0031717 rdfs:label Alternating exotropia Alternerende esotropie CANDIDATE -en nl HP:0031717 IAO:0000115 A type of exotropia in which either eye may be used for fixation A type of exotropia in which either eye may be used for fixation NOT_TRANSLATED -en nl HP:0031718 rdfs:label Consecutive exotropia Consecutieve esotropie CANDIDATE -en nl HP:0031718 IAO:0000115 Exotropia in an individual who has previously had esotropia or esophoria Exotropia in an individual who has previously had esotropia or esophoria NOT_TRANSLATED -en nl HP:0031719 rdfs:label True distance exotropia True distance exotropia NOT_TRANSLATED -en nl HP:0031719 IAO:0000115 Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits NOT_TRANSLATED -en nl HP:0031720 rdfs:label Simulated distance exotropia Simulated distance exotropia NOT_TRANSLATED -en nl HP:0031720 IAO:0000115 Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation NOT_TRANSLATED -en nl HP:0031721 rdfs:label Sensory exotropia Sensorische exotropie CANDIDATE -en nl HP:0031721 IAO:0000115 A type of divergent strabismus (exotropia) that develops in a poorly seeing eye A type of divergent strabismus (exotropia) that develops in a poorly seeing eye NOT_TRANSLATED -en nl HP:0031722 rdfs:label Near esotropia Near esotropia NOT_TRANSLATED -en nl HP:0031722 IAO:0000115 An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved NOT_TRANSLATED -en nl HP:0031723 rdfs:label Secondary esotropia Sensorische esotropie CANDIDATE -en nl HP:0031723 IAO:0000115 Convergent squint which follows loss or impairment of vision Convergent squint which follows loss or impairment of vision NOT_TRANSLATED -en nl HP:0031724 rdfs:label Microtropia Microtropie CANDIDATE -en nl HP:0031724 IAO:0000115 A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs NOT_TRANSLATED -en nl HP:0031725 rdfs:label Hypophoria Hypoforie CANDIDATE -en nl HP:0031725 IAO:0000115 A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards NOT_TRANSLATED -en nl HP:0031726 rdfs:label Incyclotropia Incyclotropie CANDIDATE -en nl HP:0031726 IAO:0000115 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other NOT_TRANSLATED -en nl HP:0031727 rdfs:label Excyclotropia Excyclotropie CANDIDATE -en nl HP:0031727 IAO:0000115 A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other NOT_TRANSLATED -en nl HP:0031728 rdfs:label Mild hypermetropia Milde hypermetropie CANDIDATE -en nl HP:0031728 IAO:0000115 A form of hypermetropia with not more than +2.00 diopters A form of hypermetropia with not more than +2.00 diopters NOT_TRANSLATED -en nl HP:0031729 rdfs:label Moderate hypermetropia Matige hypermetropie CANDIDATE -en nl HP:0031729 IAO:0000115 A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters NOT_TRANSLATED -en nl HP:0031730 rdfs:label Axial myopia Axiale myopie CANDIDATE -en nl HP:0031730 IAO:0000115 A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye NOT_TRANSLATED -en nl HP:0031731 rdfs:label Increased tear production Verhoogde traan productie CANDIDATE -en nl HP:0031731 IAO:0000115 Increased lacrimation owing to overproduction of tears Increased lacrimation owing to overproduction of tears NOT_TRANSLATED -en nl HP:0031732 rdfs:label Increased basal tear production Verhoogde basale traan productie CANDIDATE -en nl HP:0031732 IAO:0000115 A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance NOT_TRANSLATED -en nl HP:0031733 rdfs:label Reflex tearing Reflex tranen CANDIDATE -en nl HP:0031733 IAO:0000115 A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease) A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease) NOT_TRANSLATED -en nl HP:0031734 rdfs:label Lacrimal pump failure Lacrimale pomp falen CANDIDATE -en nl HP:0031734 IAO:0000115 A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion NOT_TRANSLATED -en nl HP:0031736 rdfs:label Involutional entropion Involutionele entropion CANDIDATE -en nl HP:0031736 IAO:0000115 An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle NOT_TRANSLATED -en nl HP:0031737 rdfs:label Cicatricial entropion Cicatricieel entropion CANDIDATE -en nl HP:0031737 IAO:0000115 Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid NOT_TRANSLATED -en nl HP:0031738 rdfs:label Mechanical entropion Mechanische entropion CANDIDATE -en nl HP:0031738 IAO:0000115 A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe NOT_TRANSLATED -en nl HP:0031739 rdfs:label Abnormal oblique muscle physiology Afwijkende musculus obliquus fysiologie CANDIDATE -en nl HP:0031739 IAO:0000115 A functional anomaly of the inferior or superior oblique muscle A functional anomaly of the inferior or superior oblique muscle NOT_TRANSLATED -en nl HP:0031740 rdfs:label Abnormal horizontal rectus muscle physiology Abnormal horizontal rectus muscle physiology NOT_TRANSLATED -en nl HP:0031740 IAO:0000115 A functional anomaly of the medial rectus muscle or lateral rectus muscle A functional anomaly of the medial rectus muscle or lateral rectus muscle NOT_TRANSLATED -en nl HP:0031741 rdfs:label Inferior oblique muscle underaction Musculus obliquus inferior onderbelasting CANDIDATE -en nl HP:0031741 IAO:0000115 Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED -en nl HP:0031742 rdfs:label Inferior rectus muscle underaction Musculus rectus inferior onderbelasting CANDIDATE -en nl HP:0031742 IAO:0000115 Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED -en nl HP:0031743 rdfs:label Inferior rectus muscle overaction Musculus rectus inferior bulbi overbelasting CANDIDATE -en nl HP:0031743 IAO:0000115 Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED -en nl HP:0031744 rdfs:label Superior rectus muscle weakness Spierzwakte van de musculus rectus superior bulbi CANDIDATE -en nl HP:0031744 IAO:0000115 Decreased strength of the superior rectus muscle Decreased strength of the superior rectus muscle NOT_TRANSLATED -en nl HP:0031745 rdfs:label Superior rectus muscle overaction Musculus rectus superior bulbi overbelasting CANDIDATE -en nl HP:0031745 IAO:0000115 Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED -en nl HP:0031746 rdfs:label Superior rectus muscle restriction Musculus rectus superior bulbi spierbeperking CANDIDATE -en nl HP:0031746 IAO:0000115 Mechanical limitation of the range of movement of the superior rectus muscle Mechanical limitation of the range of movement of the superior rectus muscle NOT_TRANSLATED -en nl HP:0031747 rdfs:label Superior rectus muscle underaction Musculus rectus superior bulbi onderbelasting CANDIDATE -en nl HP:0031747 IAO:0000115 Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED -en nl HP:0031748 rdfs:label Abnormal vertical rectus muscle physiology Abnormal vertical rectus muscle physiology NOT_TRANSLATED -en nl HP:0031748 IAO:0000115 A functional anomaly of the superior or inferior rectus muscle A functional anomaly of the superior or inferior rectus muscle NOT_TRANSLATED -en nl HP:0031749 rdfs:label Abnormal lateral rectus muscle physiology Afwijkende musculus rectus lateralis bulbi fysiologie CANDIDATE -en nl HP:0031749 IAO:0000115 A functional anomaly of the lateral rectus muscle A functional anomaly of the lateral rectus muscle NOT_TRANSLATED -en nl HP:0031750 rdfs:label Lateral rectus muscle weakness Musculus rectus lateralis bulbi spierzwakte CANDIDATE -en nl HP:0031750 IAO:0000115 Decreased strength (ability to move) of the lateral rectus muscle Decreased strength (ability to move) of the lateral rectus muscle NOT_TRANSLATED -en nl HP:0031751 rdfs:label Lateral rectus muscle underaction Musculus rectus lateralis bulbi onderbelasting CANDIDATE -en nl HP:0031751 IAO:0000115 Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED -en nl HP:0031752 rdfs:label Lateral rectus muscle overaction Musculus rectus lateralis bulbi overbelasting CANDIDATE -en nl HP:0031752 IAO:0000115 Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED -en nl HP:0031753 rdfs:label Medial rectus muscle weakness Rectus medialis spierzwakte CANDIDATE -en nl HP:0031753 IAO:0000115 Decreased strength of the medial rectus muscle Decreased strength of the medial rectus muscle NOT_TRANSLATED -en nl HP:0031754 rdfs:label Medial rectus muscle overaction Rectus medialis overbelasting CANDIDATE -en nl HP:0031754 IAO:0000115 Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED -en nl HP:0031755 rdfs:label Abnormal rectus muscle physiology Afwijkende rectus spier fysiologie CANDIDATE -en nl HP:0031755 IAO:0000115 A functional anomaly of a vertical or horizontal rectus muscle A functional anomaly of a vertical or horizontal rectus muscle NOT_TRANSLATED -en nl HP:0031756 rdfs:label Medial rectus muscle underaction Rectus medialis onderbelasting CANDIDATE -en nl HP:0031756 IAO:0000115 Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED -en nl HP:0031757 rdfs:label Medial rectus muscle restriction Rectus medialis spierbeperking CANDIDATE -en nl HP:0031757 IAO:0000115 Mechanical limitation of the range of movement of the medial rectus muscle Mechanical limitation of the range of movement of the medial rectus muscle NOT_TRANSLATED -en nl HP:0031758 rdfs:label Lateral rectus muscle restriction Musculus rectus lateralis bulbi spierbeperking CANDIDATE -en nl HP:0031758 IAO:0000115 Mechanical limitation of the range of movement of the lateral rectus muscle Mechanical limitation of the range of movement of the lateral rectus muscle NOT_TRANSLATED -en nl HP:0031759 rdfs:label Basic constant esotropia Basale (constante) esotropie CANDIDATE -en nl HP:0031759 IAO:0000115 A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times) A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times) NOT_TRANSLATED -en nl HP:0031760 rdfs:label Non-accomodative esotropia Niet-accommodatieve esotropie CANDIDATE -en nl HP:0031760 IAO:0000115 A form of esotropia in which the angle of deviation is not affected by accommodative effort A form of esotropia in which the angle of deviation is not affected by accommodative effort NOT_TRANSLATED -en nl HP:0031761 rdfs:label Infantile constant esotropia Infantiele (constante) esotropie CANDIDATE -en nl HP:0031761 IAO:0000115 Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction NOT_TRANSLATED -en nl HP:0031762 rdfs:label Distance esotropia Afstands esoptropie CANDIDATE -en nl HP:0031762 IAO:0000115 An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging NOT_TRANSLATED -en nl HP:0031763 rdfs:label Cyclic esotropia Cyclische esotropie CANDIDATE -en nl HP:0031763 IAO:0000115 Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle NOT_TRANSLATED -en nl HP:0031764 rdfs:label Fully accomodative esotropia Volledig accommodatieve esotropie CANDIDATE -en nl HP:0031764 IAO:0000115 Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction NOT_TRANSLATED -en nl HP:0031765 rdfs:label Partially accomodative esotropia Gedeeltelijk accommodatieve esotropie CANDIDATE -en nl HP:0031765 IAO:0000115 A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses NOT_TRANSLATED -en nl HP:0031766 rdfs:label Convergence excess esotropia Convergence excess esotropia NOT_TRANSLATED -en nl HP:0031766 IAO:0000115 An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio NOT_TRANSLATED -en nl HP:0031767 rdfs:label Consecutive esotropia Consecutieve esotropie CANDIDATE -en nl HP:0031767 IAO:0000115 Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection NOT_TRANSLATED -en nl HP:0031768 rdfs:label Parafoveal fixation Parafoveale fixatie CANDIDATE -en nl HP:0031768 IAO:0000115 Fixation of an object in the area adjacent to the fovea Fixation of an object in the area adjacent to the fovea NOT_TRANSLATED -en nl HP:0031769 rdfs:label Peripheral fixation Perifere fixatie CANDIDATE -en nl HP:0031769 IAO:0000115 Fixation of an object in a peripheral area of the retina Fixation of an object in a peripheral area of the retina NOT_TRANSLATED -en nl HP:0031770 rdfs:label Epicanthus palpebralis Epicanthus palpebralis CANDIDATE -en nl HP:0031770 IAO:0000115 A type of epicanthus in which a medial vertical fold is present between upper and lower lids A type of epicanthus in which a medial vertical fold is present between upper and lower lids NOT_TRANSLATED -en nl HP:0031771 rdfs:label Epicanthus tarsalis Epicanthus tarsalis CANDIDATE -en nl HP:0031771 IAO:0000115 A type of epicanthus in which a primarily upper lid fold is present A type of epicanthus in which a primarily upper lid fold is present NOT_TRANSLATED -en nl HP:0031772 rdfs:label Abnormal posterior circulating artery morphology Abnormal posterior circulating artery morphology NOT_TRANSLATED -en nl HP:0031772 IAO:0000115 Any structural anomaly of the posterior circulating artery (PCOM) Any structural anomaly of the posterior circulating artery (PCOM) NOT_TRANSLATED -en nl HP:0031773 rdfs:label Posterior communicating artery aneurysm Posterior communicating artery aneurysm NOT_TRANSLATED -en nl HP:0031773 IAO:0000115 A widening (ballooning) localized in the wall of the posterior communicating artery A widening (ballooning) localized in the wall of the posterior communicating artery NOT_TRANSLATED -en nl HP:0031774 rdfs:label Posterior communicating artery infundibulum Posterior communicating artery infundibulum NOT_TRANSLATED -en nl HP:0031774 IAO:0000115 A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery NOT_TRANSLATED -en nl HP:0031775 rdfs:label Neurogenic strabismus Neurogenic strabismus NOT_TRANSLATED -en nl HP:0031775 IAO:0000115 An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them NOT_TRANSLATED -en nl HP:0031776 rdfs:label Cyclotropia Cyclotropia NOT_TRANSLATED -en nl HP:0031776 IAO:0000115 A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia) A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia) NOT_TRANSLATED -en nl HP:0031777 rdfs:label Cyclophoria Cyclophoria NOT_TRANSLATED -en nl HP:0031777 IAO:0000115 A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation NOT_TRANSLATED -en nl HP:0031778 rdfs:label Incyclophoria Incyclophoria NOT_TRANSLATED -en nl HP:0031778 IAO:0000115 A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other NOT_TRANSLATED -en nl HP:0031779 rdfs:label Excyclophoria Excyclophoria NOT_TRANSLATED -en nl HP:0031779 IAO:0000115 A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other NOT_TRANSLATED -en nl HP:0031780 rdfs:label Eosinophilic ascites Eosinophilic ascites NOT_TRANSLATED -en nl HP:0031780 IAO:0000115 A type of ascites in which there are large numbers of eosinophils in the ascitis fluid A type of ascites in which there are large numbers of eosinophils in the ascitis fluid NOT_TRANSLATED -en nl HP:0031781 rdfs:label Microtropia with identity Microtropia with identity NOT_TRANSLATED -en nl HP:0031781 IAO:0000115 A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC NOT_TRANSLATED -en nl HP:0031782 rdfs:label Microtropia without identity Microtropia without identity NOT_TRANSLATED -en nl HP:0031782 IAO:0000115 A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test NOT_TRANSLATED -en nl HP:0031783 rdfs:label Absent coronary sinus Absent coronary sinus NOT_TRANSLATED -en nl HP:0031783 IAO:0000115 A developmental defect in which the coronary sinus fails to form A developmental defect in which the coronary sinus fails to form NOT_TRANSLATED -en nl HP:0031784 rdfs:label Abnormal ascending aorta morphology Abnormal ascending aorta morphology NOT_TRANSLATED -en nl HP:0031784 IAO:0000115 Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise NOT_TRANSLATED -en nl HP:0031785 rdfs:label Abnormal eyelid movement Abnormal eyelid movement NOT_TRANSLATED -en nl HP:0031785 IAO:0000115 An abnormality in voluntary or involuntary eyelid movements or their control An abnormality in voluntary or involuntary eyelid movements or their control NOT_TRANSLATED -en nl HP:0031786 rdfs:label Cogan lid twitch Cogan lid twitch NOT_TRANSLATED -en nl HP:0031786 IAO:0000115 Transient eyelid retraction during refixation from down to straight ahead Transient eyelid retraction during refixation from down to straight ahead NOT_TRANSLATED -en nl HP:0031787 rdfs:label Oblique astigmatism Oblique astigmatism NOT_TRANSLATED -en nl HP:0031787 IAO:0000115 Astigmatism in which the refractive power of the vertical meridian is the greatest Astigmatism in which the refractive power of the vertical meridian is the greatest NOT_TRANSLATED -en nl HP:0031788 rdfs:label With the rule astigmatism With the rule astigmatism NOT_TRANSLATED -en nl HP:0031788 IAO:0000115 Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest) Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest) NOT_TRANSLATED -en nl HP:0031789 rdfs:label Against the rule astigmatism Against the rule astigmatism NOT_TRANSLATED -en nl HP:0031789 IAO:0000115 Astigmatism with more plus power on the horizontal meridian Astigmatism with more plus power on the horizontal meridian NOT_TRANSLATED -en nl HP:0031790 rdfs:label Mixed astigmatism Mixed astigmatism NOT_TRANSLATED -en nl HP:0031790 IAO:0000115 A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted) A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted) NOT_TRANSLATED -en nl HP:0031791 rdfs:label Lenticular astigmatism Lenticular astigmatism NOT_TRANSLATED -en nl HP:0031791 IAO:0000115 A type of astigmatism related to an irregular shape of the lens A type of astigmatism related to an irregular shape of the lens NOT_TRANSLATED -en nl HP:0031792 rdfs:label Irregular astigmatism Irregular astigmatism NOT_TRANSLATED -en nl HP:0031792 IAO:0000115 A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision NOT_TRANSLATED -en nl HP:0031793 rdfs:label Increased serum leptin Increased serum leptin NOT_TRANSLATED -en nl HP:0031793 IAO:0000115 An increased concentration of leptin in the blood An increased concentration of leptin in the blood NOT_TRANSLATED -en nl HP:0031794 rdfs:label Decreased circulating glycerol level Decreased circulating glycerol level NOT_TRANSLATED -en nl HP:0031794 IAO:0000115 A decrease below the normal concentration of glycerol in the blood A decrease below the normal concentration of glycerol in the blood NOT_TRANSLATED -en nl HP:0031795 rdfs:label Abnormal circulating glycerol level Abnormal circulating glycerol level NOT_TRANSLATED -en nl HP:0031795 IAO:0000115 Any deviation from the normal concentration of glycerol in the blood Any deviation from the normal concentration of glycerol in the blood NOT_TRANSLATED -en nl HP:0031796 rdfs:label Recurrent Recurrent NOT_TRANSLATED -en nl HP:0031796 IAO:0000115 Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present NOT_TRANSLATED -en nl HP:0031797 rdfs:label Clinical course Clinical course NOT_TRANSLATED -en nl HP:0031797 IAO:0000115 The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual NOT_TRANSLATED -en nl HP:0031798 rdfs:label Elevated circulating apolipoprotein B concentration Elevated circulating apolipoprotein B concentration NOT_TRANSLATED -en nl HP:0031798 IAO:0000115 Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 NOT_TRANSLATED -en nl HP:0031799 rdfs:label Decreased circulating apolipoprotein AI concentration Decreased circulating apolipoprotein AI concentration NOT_TRANSLATED -en nl HP:0031799 IAO:0000115 Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease NOT_TRANSLATED -en nl HP:0031800 rdfs:label Elevated circulating apolipoprotein A-II concentration Elevated circulating apolipoprotein A-II concentration NOT_TRANSLATED -en nl HP:0031800 IAO:0000115 An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism NOT_TRANSLATED -en nl HP:0031801 rdfs:label Vocal cord dysfunction Vocal cord dysfunction NOT_TRANSLATED -en nl HP:0031801 IAO:0000115 Any functional anomaly of the vocal cord Any functional anomaly of the vocal cord NOT_TRANSLATED -en nl HP:0031803 rdfs:label Fundus hemorrhage Fundus hemorrhage NOT_TRANSLATED -en nl HP:0031803 IAO:0000115 Bleeding within the fundus of the eye Bleeding within the fundus of the eye NOT_TRANSLATED -en nl HP:0031804 rdfs:label Premacular hemorrhage Premacular hemorrhage NOT_TRANSLATED -en nl HP:0031805 rdfs:label Intraretinal hemorrhage Intraretinal hemorrhage NOT_TRANSLATED -en nl HP:0031805 IAO:0000115 A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina NOT_TRANSLATED -en nl HP:0031806 rdfs:label Abnormal basophil count Abnormal basophil count NOT_TRANSLATED -en nl HP:0031806 IAO:0000115 Any deviation from the normal number of basophils per volume in the blood circulation Any deviation from the normal number of basophils per volume in the blood circulation NOT_TRANSLATED -en nl HP:0031807 rdfs:label Increased basophil count Increased basophil count NOT_TRANSLATED -en nl HP:0031807 IAO:0000115 An abnormally increased count of basophils per volume in the blood circulation An abnormally increased count of basophils per volume in the blood circulation NOT_TRANSLATED -en nl HP:0031808 rdfs:label Decreased basophil count Decreased basophil count NOT_TRANSLATED -en nl HP:0031808 IAO:0000115 An abnormally reduced count of basophils per volume in the blood circulation An abnormally reduced count of basophils per volume in the blood circulation NOT_TRANSLATED -en nl HP:0031809 rdfs:label Archibald's sign Archibald's sign NOT_TRANSLATED -en nl HP:0031809 IAO:0000115 Shortening of the fourth and fifth metacarpals when the fist is clenched Shortening of the fourth and fifth metacarpals when the fist is clenched NOT_TRANSLATED -en nl HP:0031810 rdfs:label Anti-ganglioside antibody positivity Anti-ganglioside antibody positivity NOT_TRANSLATED -en nl HP:0031810 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides NOT_TRANSLATED -en nl HP:0031811 rdfs:label Bilirubinuria Bilirubinuria NOT_TRANSLATED -en nl HP:0031811 IAO:0000115 Presence of conjugated bilirubin in the urine Presence of conjugated bilirubin in the urine NOT_TRANSLATED -en nl HP:0031812 rdfs:label Nitrituria Nitrituria NOT_TRANSLATED -en nl HP:0031812 IAO:0000115 Presence of nitrites in the urine Presence of nitrites in the urine NOT_TRANSLATED -en nl HP:0031813 rdfs:label Colonic eosinophilia Colonic eosinophilia NOT_TRANSLATED -en nl HP:0031813 IAO:0000115 An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon NOT_TRANSLATED -en nl HP:0031814 rdfs:label Palilalia Palilalia NOT_TRANSLATED -en nl HP:0031814 IAO:0000115 Repetition of one's own words or phrases Repetition of one's own words or phrases NOT_TRANSLATED -en nl HP:0031815 rdfs:label Abnormal oral physiology Abnormal oral physiology NOT_TRANSLATED -en nl HP:0031815 IAO:0000115 A functional anomaly of the mouth (which is also known as the oral cavity) A functional anomaly of the mouth (which is also known as the oral cavity) NOT_TRANSLATED -en nl HP:0031816 rdfs:label Abnormal oral morphology Abnormal oral morphology NOT_TRANSLATED -en nl HP:0031816 IAO:0000115 Any structural anomaly of the mouth, which is also known as the oral cavity Any structural anomaly of the mouth, which is also known as the oral cavity NOT_TRANSLATED -en nl HP:0031817 rdfs:label Decreased circulating parathyroid hormone level Decreased circulating parathyroid hormone level NOT_TRANSLATED -en nl HP:0031817 IAO:0000115 An abnormally decreased concentration of parathyroid hormone An abnormally decreased concentration of parathyroid hormone NOT_TRANSLATED -en nl HP:0031818 rdfs:label Abnormal waist to hip ratio Abnormal waist to hip ratio NOT_TRANSLATED -en nl HP:0031818 IAO:0000115 A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement NOT_TRANSLATED -en nl HP:0031819 rdfs:label Increased waist to hip ratio Increased waist to hip ratio NOT_TRANSLATED -en nl HP:0031819 IAO:0000115 Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement NOT_TRANSLATED -en nl HP:0031820 rdfs:label Decreased waist to hip ratio Decreased waist to hip ratio NOT_TRANSLATED -en nl HP:0031820 IAO:0000115 Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement NOT_TRANSLATED -en nl HP:0031821 rdfs:label Abnormal hypoxanthine-guanine phosphoribosyltransferase level Abnormal hypoxanthine-guanine phosphoribosyltransferase level NOT_TRANSLATED -en nl HP:0031821 IAO:0000115 Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate NOT_TRANSLATED -en nl HP:0031822 rdfs:label Elevated hypoxanthine-guanine phosphoribosyltransferase level Elevated hypoxanthine-guanine phosphoribosyltransferase level NOT_TRANSLATED -en nl HP:0031822 IAO:0000115 Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate NOT_TRANSLATED -en nl HP:0031823 rdfs:label Reduced hypoxanthine-guanine phosphoribosyltransferase level Reduced hypoxanthine-guanine phosphoribosyltransferase level NOT_TRANSLATED -en nl HP:0031823 IAO:0000115 Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate NOT_TRANSLATED -en nl HP:0031824 rdfs:label Hepatic mastocytosis Hepatic mastocytosis NOT_TRANSLATED -en nl HP:0031824 IAO:0000115 Liver mast cell infiltration Liver mast cell infiltration NOT_TRANSLATED -en nl HP:0031825 rdfs:label Freezing of gait Freezing of gait NOT_TRANSLATED -en nl HP:0031825 IAO:0000115 Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk NOT_TRANSLATED -en nl HP:0031826 rdfs:label Abnormal reflex Abnormal reflex NOT_TRANSLATED -en nl HP:0031826 IAO:0000115 Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur) Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur) NOT_TRANSLATED -en nl HP:0031827 rdfs:label Absent abdominal reflex Absent abdominal reflex NOT_TRANSLATED -en nl HP:0031827 IAO:0000115 Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus NOT_TRANSLATED -en nl HP:0031828 rdfs:label Abnormal superficial reflex Abnormal superficial reflex NOT_TRANSLATED -en nl HP:0031828 IAO:0000115 An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons NOT_TRANSLATED -en nl HP:0031829 rdfs:label Absent cremaster reflex Absent cremaster reflex NOT_TRANSLATED -en nl HP:0031829 IAO:0000115 Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex NOT_TRANSLATED -en nl HP:0031830 rdfs:label Pinguecula Pinguecula NOT_TRANSLATED -en nl HP:0031830 IAO:0000115 A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea NOT_TRANSLATED -en nl HP:0031831 rdfs:label Decreased serum zinc Decreased serum zinc NOT_TRANSLATED -en nl HP:0031831 IAO:0000115 A reduced concentration of zinc in the blood A reduced concentration of zinc in the blood NOT_TRANSLATED -en nl HP:0031832 rdfs:label Hypermetric downward saccades Hypermetric downward saccades NOT_TRANSLATED -en nl HP:0031832 IAO:0000115 Overshoot of downward saccadic eye movements Overshoot of downward saccadic eye movements NOT_TRANSLATED -en nl HP:0031833 rdfs:label Hypometric upward saccades Hypometric upward saccades NOT_TRANSLATED -en nl HP:0031833 IAO:0000115 Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object NOT_TRANSLATED -en nl HP:0031834 rdfs:label Aortopulmonary collateral arteries Aortopulmonary collateral arteries NOT_TRANSLATED -en nl HP:0031834 IAO:0000115 Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus NOT_TRANSLATED -en nl HP:0031835 rdfs:label Abnormal superoxide dismutase level Abnormal superoxide dismutase level NOT_TRANSLATED -en nl HP:0031835 IAO:0000115 An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide NOT_TRANSLATED -en nl HP:0031836 rdfs:label Increased superoxide dismutase level Increased superoxide dismutase level NOT_TRANSLATED -en nl HP:0031836 IAO:0000115 Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide NOT_TRANSLATED -en nl HP:0031837 rdfs:label Decreased superoxide dismutase level Decreased superoxide dismutase level NOT_TRANSLATED -en nl HP:0031837 IAO:0000115 Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide NOT_TRANSLATED -en nl HP:0031838 rdfs:label Presence of xenobiotic Presence of xenobiotic NOT_TRANSLATED -en nl HP:0031838 IAO:0000115 Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids NOT_TRANSLATED -en nl HP:0031840 rdfs:label Urine xenobiotic Urine xenobiotic NOT_TRANSLATED -en nl HP:0031840 IAO:0000115 The presence of a xenobiotic in urine The presence of a xenobiotic in urine NOT_TRANSLATED -en nl HP:0031841 rdfs:label Positive urine methadone test Positive urine methadone test NOT_TRANSLATED -en nl HP:0031841 IAO:0000115 Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine NOT_TRANSLATED -en nl HP:0031842 rdfs:label Lymphangiectasis Lymphangiectasis NOT_TRANSLATED -en nl HP:0031842 IAO:0000115 Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma NOT_TRANSLATED -en nl HP:0031843 rdfs:label Bradyphrenia Bradyphrenia NOT_TRANSLATED -en nl HP:0031843 IAO:0000115 Abnormal slowness of thought processes Abnormal slowness of thought processes NOT_TRANSLATED -en nl HP:0031844 rdfs:label Euphoria Euphoria NOT_TRANSLATED -en nl HP:0031844 IAO:0000115 A sense of intense joy or happiness that is beyond what would be expected under the given circumstances A sense of intense joy or happiness that is beyond what would be expected under the given circumstances NOT_TRANSLATED -en nl HP:0031845 rdfs:label Abnormal libido Abnormal libido NOT_TRANSLATED -en nl HP:0031845 IAO:0000115 Any deviation from the normal sexual drive or desire for sexual activity Any deviation from the normal sexual drive or desire for sexual activity NOT_TRANSLATED -en nl HP:0031846 rdfs:label Femur fracture Femur fracture NOT_TRANSLATED -en nl HP:0031846 IAO:0000115 A break or crush injury of the thigh bone (femur) A break or crush injury of the thigh bone (femur) NOT_TRANSLATED -en nl HP:0031847 rdfs:label Difficulty walking backward Difficulty walking backward NOT_TRANSLATED -en nl HP:0031847 IAO:0000115 Reduced ability to walk (ambulate) in a backwards direction Reduced ability to walk (ambulate) in a backwards direction NOT_TRANSLATED -en nl HP:0031848 rdfs:label Cock-walk gait Cock-walk gait NOT_TRANSLATED -en nl HP:0031848 IAO:0000115 An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor NOT_TRANSLATED -en nl HP:0031849 rdfs:label Sleep-wake inversion Sleep-wake inversion NOT_TRANSLATED -en nl HP:0031849 IAO:0000115 A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night NOT_TRANSLATED -en nl HP:0031850 rdfs:label Abnormal hematocrit Abnormal hematocrit NOT_TRANSLATED -en nl HP:0031850 IAO:0000115 Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood NOT_TRANSLATED -en nl HP:0031851 rdfs:label Reduced hematocrit Reduced hematocrit NOT_TRANSLATED -en nl HP:0031851 IAO:0000115 A reduction below the normal ratio of the volume of red blood cells to the total volume of blood A reduction below the normal ratio of the volume of red blood cells to the total volume of blood NOT_TRANSLATED -en nl HP:0031853 rdfs:label Isomerism Isomerism NOT_TRANSLATED -en nl HP:0031853 IAO:0000115 Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other NOT_TRANSLATED -en nl HP:0031854 rdfs:label Left Isomerism Left Isomerism NOT_TRANSLATED -en nl HP:0031854 IAO:0000115 A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures NOT_TRANSLATED -en nl HP:0031855 rdfs:label Right isomerism Right isomerism NOT_TRANSLATED -en nl HP:0031855 IAO:0000115 A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures NOT_TRANSLATED -en nl HP:0031856 rdfs:label Hobby horse gait Hobby horse gait NOT_TRANSLATED -en nl HP:0031856 IAO:0000115 An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward NOT_TRANSLATED -en nl HP:0031857 rdfs:label Ineffective esophageal peristalsis Ineffective esophageal peristalsis NOT_TRANSLATED -en nl HP:0031857 IAO:0000115 Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus NOT_TRANSLATED -en nl HP:0031858 rdfs:label Esophageal furrows Esophageal furrows NOT_TRANSLATED -en nl HP:0031858 IAO:0000115 Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus) Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus) NOT_TRANSLATED -en nl HP:0031860 rdfs:label Abnormal heart rate variability Abnormal heart rate variability NOT_TRANSLATED -en nl HP:0031860 IAO:0000115 Any abnormality in the variability of the time interval between successive heartbeats Any abnormality in the variability of the time interval between successive heartbeats NOT_TRANSLATED -en nl HP:0031861 rdfs:label Decreased heart rate variability Decreased heart rate variability NOT_TRANSLATED -en nl HP:0031861 IAO:0000115 Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle NOT_TRANSLATED -en nl HP:0031862 rdfs:label Increased heart rate variability Increased heart rate variability NOT_TRANSLATED -en nl HP:0031862 IAO:0000115 Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle NOT_TRANSLATED -en nl HP:0031863 rdfs:label Bloodstream infectious agent Bloodstream infectious agent NOT_TRANSLATED -en nl HP:0031863 IAO:0000115 The presence of an infectious agent in the blood circulation The presence of an infectious agent in the blood circulation NOT_TRANSLATED -en nl HP:0031864 rdfs:label Bacteremia Bacteremia NOT_TRANSLATED -en nl HP:0031864 IAO:0000115 Presence of viable bacteria in the blood Presence of viable bacteria in the blood NOT_TRANSLATED -en nl HP:0031865 rdfs:label Abnormal liver physiology Abnormal liver physiology NOT_TRANSLATED -en nl HP:0031865 IAO:0000115 Any functional anomaly of the liver Any functional anomaly of the liver NOT_TRANSLATED -en nl HP:0031866 rdfs:label Clasp-knife sign Clasp-knife sign NOT_TRANSLATED -en nl HP:0031866 IAO:0000115 Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife NOT_TRANSLATED -en nl HP:0031867 rdfs:label Neck hypertonia Neck hypertonia NOT_TRANSLATED -en nl HP:0031867 IAO:0000115 Increased passive stiffness or tightness of the neck musculature Increased passive stiffness or tightness of the neck musculature NOT_TRANSLATED -en nl HP:0031868 rdfs:label Optic ataxia Optic ataxia NOT_TRANSLATED -en nl HP:0031868 IAO:0000115 Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected NOT_TRANSLATED -en nl HP:0031869 rdfs:label Recurrent joint dislocation Recurrent joint dislocation NOT_TRANSLATED -en nl HP:0031869 IAO:0000115 Dislocation of a given joint repeated times Dislocation of a given joint repeated times NOT_TRANSLATED -en nl HP:0031870 rdfs:label Phosphohydroxylysinuria Phosphohydroxylysinuria NOT_TRANSLATED -en nl HP:0031870 IAO:0000115 An elevated concentration of phosphohydroxylysine in the urine An elevated concentration of phosphohydroxylysine in the urine NOT_TRANSLATED -en nl HP:0031871 rdfs:label Abnormal Langerhans cell morphology Abnormal Langerhans cell morphology NOT_TRANSLATED -en nl HP:0031871 IAO:0000115 Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis NOT_TRANSLATED -en nl HP:0031872 rdfs:label Absent Birbeck granules in Langerhans cells Absent Birbeck granules in Langerhans cells NOT_TRANSLATED -en nl HP:0031872 IAO:0000115 Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy NOT_TRANSLATED -en nl HP:0031873 rdfs:label Early chronotype Early chronotype NOT_TRANSLATED -en nl HP:0031873 IAO:0000115 A tendency towards rising very early in the morning and going to bed early in the evening A tendency towards rising very early in the morning and going to bed early in the evening NOT_TRANSLATED -en nl HP:0031874 rdfs:label Late chronotype Late chronotype NOT_TRANSLATED -en nl HP:0031874 IAO:0000115 A tendency towards rising very late in the morning and going to bed late at night A tendency towards rising very late in the morning and going to bed late at night NOT_TRANSLATED -en nl HP:0031875 rdfs:label Abnormal hepcidin level Abnormal hepcidin level NOT_TRANSLATED -en nl HP:0031875 IAO:0000115 Any deviation from the normal concentration of hepcidin in the blood circulation Any deviation from the normal concentration of hepcidin in the blood circulation NOT_TRANSLATED -en nl HP:0031876 rdfs:label Decreased hepcidin level Decreased hepcidin level NOT_TRANSLATED -en nl HP:0031876 IAO:0000115 An abnormally reduced concentration of hepcidin in the blood circulation An abnormally reduced concentration of hepcidin in the blood circulation NOT_TRANSLATED -en nl HP:0031877 rdfs:label Elevated hepcidin level Elevated hepcidin level NOT_TRANSLATED -en nl HP:0031877 IAO:0000115 An abnormally increased concentration of hepcidin in the blood circulation An abnormally increased concentration of hepcidin in the blood circulation NOT_TRANSLATED -en nl HP:0031878 rdfs:label Acromicria Acromicria NOT_TRANSLATED -en nl HP:0031878 IAO:0000115 Small hands and feet in proportion to the rest of the body Small hands and feet in proportion to the rest of the body NOT_TRANSLATED -en nl HP:0031879 rdfs:label Abnormal eyelid physiology Abnormal eyelid physiology NOT_TRANSLATED -en nl HP:0031879 IAO:0000115 Any functional abnormality of the eyelid Any functional abnormality of the eyelid NOT_TRANSLATED -en nl HP:0031880 rdfs:label Eyelid laxity Eyelid laxity NOT_TRANSLATED -en nl HP:0031880 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test NOT_TRANSLATED -en nl HP:0031881 rdfs:label Decreased tear drainage Decreased tear drainage NOT_TRANSLATED -en nl HP:0031881 IAO:0000115 A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct NOT_TRANSLATED -en nl HP:0031882 rdfs:label Agyria Agyria NOT_TRANSLATED -en nl HP:0031882 IAO:0000115 A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm NOT_TRANSLATED -en nl HP:0031883 rdfs:label Increased proinsulin:insulin ratio Increased proinsulin:insulin ratio NOT_TRANSLATED -en nl HP:0031883 IAO:0000115 An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation NOT_TRANSLATED -en nl HP:0031884 rdfs:label Abnormal CSF glucose concentration Abnormal CSF glucose concentration NOT_TRANSLATED -en nl HP:0031884 IAO:0000115 A deviation from normal concentration of glucose content in the cerebrospinal fluid A deviation from normal concentration of glucose content in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0031885 rdfs:label Hyperglycorrhachia Hyperglycorrhachia NOT_TRANSLATED -en nl HP:0031885 IAO:0000115 Abnormally high glucose concentration in the cerebrospinal fluid Abnormally high glucose concentration in the cerebrospinal fluid NOT_TRANSLATED -en nl HP:0031886 rdfs:label Abnormal LDL cholesterol concentration Abnormal LDL cholesterol concentration NOT_TRANSLATED -en nl HP:0031886 IAO:0000115 Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation NOT_TRANSLATED -en nl HP:0031887 rdfs:label Abnormal chylomicron concentration Abnormal chylomicron concentration NOT_TRANSLATED -en nl HP:0031887 IAO:0000115 Any deviation from the normal circulating concentration of chylomicrons Any deviation from the normal circulating concentration of chylomicrons NOT_TRANSLATED -en nl HP:0031888 rdfs:label Abnormal HDL cholesterol concentration Abnormal HDL cholesterol concentration NOT_TRANSLATED -en nl HP:0031888 IAO:0000115 Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood NOT_TRANSLATED -en nl HP:0031889 rdfs:label Abnormal VLDL cholesterol concentration Abnormal VLDL cholesterol concentration NOT_TRANSLATED -en nl HP:0031889 IAO:0000115 Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood NOT_TRANSLATED -en nl HP:0031890 rdfs:label Increased urine urobilinogen Increased urine urobilinogen NOT_TRANSLATED -en nl HP:0031890 IAO:0000115 An elevated concentration of urobilinogen in the urine An elevated concentration of urobilinogen in the urine NOT_TRANSLATED -en nl HP:0031891 rdfs:label Decreased eosinophil count Decreased eosinophil count NOT_TRANSLATED -en nl HP:0031891 IAO:0000115 Abnormal reduction in the count of eosinophils in the blood per volume Abnormal reduction in the count of eosinophils in the blood per volume NOT_TRANSLATED -en nl HP:0031898 rdfs:label Rouleaux formation Rouleaux formation NOT_TRANSLATED -en nl HP:0031898 IAO:0000115 Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells NOT_TRANSLATED -en nl HP:0031899 rdfs:label Abnormal coagulation factor V activity Abnormal coagulation factor V activity NOT_TRANSLATED -en nl HP:0031899 IAO:0000115 Any deviation from the activity of coagulation factor V Any deviation from the activity of coagulation factor V NOT_TRANSLATED -en nl HP:0031901 rdfs:label Elevated total serum tryptase Elevated total serum tryptase NOT_TRANSLATED -en nl HP:0031901 IAO:0000115 An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation NOT_TRANSLATED -en nl HP:0031903 rdfs:label Abnormal circulating selenium concentration Abnormal circulating selenium concentration NOT_TRANSLATED -en nl HP:0031903 IAO:0000115 Any deviation from the normal circulating concentration of selenium Any deviation from the normal circulating concentration of selenium NOT_TRANSLATED -en nl HP:0031904 rdfs:label Abnormal total hemolytic complement activity Abnormal total hemolytic complement activity NOT_TRANSLATED -en nl HP:0031904 IAO:0000115 Any deviation from the normal total hemolytic complement activity in the circulation Any deviation from the normal total hemolytic complement activity in the circulation NOT_TRANSLATED -en nl HP:0031905 rdfs:label Increased total hemolytic complement activity Increased total hemolytic complement activity NOT_TRANSLATED -en nl HP:0031905 IAO:0000115 An abnormally elevated total hemolytic complement activity in the circulation An abnormally elevated total hemolytic complement activity in the circulation NOT_TRANSLATED -en nl HP:0031906 rdfs:label Decreased total hemolytic complement activity Decreased total hemolytic complement activity NOT_TRANSLATED -en nl HP:0031906 IAO:0000115 An abnormally reduced total hemolytic complement activity in the circulation An abnormally reduced total hemolytic complement activity in the circulation NOT_TRANSLATED -en nl HP:0031907 rdfs:label Anti-mitochondrial M2 antibody positivity Anti-mitochondrial M2 antibody positivity NOT_TRANSLATED -en nl HP:0031907 IAO:0000115 The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum NOT_TRANSLATED -en nl HP:0031908 rdfs:label Micrographia Micrographia NOT_TRANSLATED -en nl HP:0031908 IAO:0000115 Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task NOT_TRANSLATED -en nl HP:0031909 rdfs:label Unicornuate uterus Unicornuate uterus NOT_TRANSLATED -en nl HP:0031909 IAO:0000115 A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn NOT_TRANSLATED -en nl HP:0031910 rdfs:label Abnormal cranial nerve physiology Abnormal cranial nerve physiology NOT_TRANSLATED -en nl HP:0031910 IAO:0000115 A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem NOT_TRANSLATED -en nl HP:0031911 rdfs:label Abnormal fifth cranial nerve physiology Abnormal fifth cranial nerve physiology NOT_TRANSLATED -en nl HP:0031912 rdfs:label Trigeminal anesthesia Trigeminal anesthesia NOT_TRANSLATED -en nl HP:0031912 IAO:0000115 Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth NOT_TRANSLATED -en nl HP:0031913 rdfs:label Rhombencephalosynapsis Rhombencephalosynapsis NOT_TRANSLATED -en nl HP:0031913 IAO:0000115 Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis NOT_TRANSLATED -en nl HP:0031914 rdfs:label Fluctuating Fluctuating NOT_TRANSLATED -en nl HP:0031914 IAO:0000115 Varying irregularly over time in severity, amount, or amplitude Varying irregularly over time in severity, amount, or amplitude NOT_TRANSLATED -en nl HP:0031915 rdfs:label Stable Stable NOT_TRANSLATED -en nl HP:0031915 IAO:0000115 This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time NOT_TRANSLATED -en nl HP:0031917 rdfs:label Digital ulcer Digital ulcer NOT_TRANSLATED -en nl HP:0031917 IAO:0000115 An open sore on the surface of the skin of a finger or toe An open sore on the surface of the skin of a finger or toe NOT_TRANSLATED -en nl HP:0031918 rdfs:label Ovarian sex cord-stromal tumor Ovarian sex cord-stromal tumor NOT_TRANSLATED -en nl HP:0031918 IAO:0000115 A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts NOT_TRANSLATED -en nl HP:0031919 rdfs:label Juvenile type ovarian granulosa cell tumor Juvenile type ovarian granulosa cell tumor NOT_TRANSLATED -en nl HP:0031919 IAO:0000115 Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type NOT_TRANSLATED -en nl HP:0031920 rdfs:label Malignant ovarian granulosa cell tumor Malignant ovarian granulosa cell tumor NOT_TRANSLATED -en nl HP:0031920 IAO:0000115 An aggressive granulosa cell tumor that arises from the ovary An aggressive granulosa cell tumor that arises from the ovary NOT_TRANSLATED -en nl HP:0031921 rdfs:label Gastrocnemius myalgia Gastrocnemius myalgia NOT_TRANSLATED -en nl HP:0031921 IAO:0000115 Pain of the gastrocnemius muscle Pain of the gastrocnemius muscle NOT_TRANSLATED -en nl HP:0031922 rdfs:label Renal artery duplication Renal artery duplication NOT_TRANSLATED -en nl HP:0031922 IAO:0000115 The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body NOT_TRANSLATED -en nl HP:0031923 rdfs:label Hematocolpos Hematocolpos NOT_TRANSLATED -en nl HP:0031923 IAO:0000115 Accumulation of blood in the vagina usually due to vaginal obstruction Accumulation of blood in the vagina usually due to vaginal obstruction NOT_TRANSLATED -en nl HP:0031924 rdfs:label Rope sign Rope sign NOT_TRANSLATED -en nl HP:0031924 IAO:0000115 The presence of linear erythematous palpable cords, often on the lateral trunk The presence of linear erythematous palpable cords, often on the lateral trunk NOT_TRANSLATED -en nl HP:0031925 rdfs:label Rosette Rosette NOT_TRANSLATED -en nl HP:0031925 IAO:0000115 A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub NOT_TRANSLATED -en nl HP:0031926 rdfs:label Homer Wright rosette Homer Wright rosette NOT_TRANSLATED -en nl HP:0031926 IAO:0000115 A type of rosette in which the central lumen or hub is filled with fiber-like processes A type of rosette in which the central lumen or hub is filled with fiber-like processes NOT_TRANSLATED -en nl HP:0031927 rdfs:label Flexner-Wintersteiner rosette Flexner-Wintersteiner rosette NOT_TRANSLATED -en nl HP:0031927 IAO:0000115 The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil NOT_TRANSLATED -en nl HP:0031928 rdfs:label True ependymal rosette True ependymal rosette NOT_TRANSLATED -en nl HP:0031928 IAO:0000115 A type of rosette in which a halo of cells surrounds an empty lumen A type of rosette in which a halo of cells surrounds an empty lumen NOT_TRANSLATED -en nl HP:0031929 rdfs:label Perivascular pseudorosette Perivascular pseudorosette NOT_TRANSLATED -en nl HP:0031929 IAO:0000115 A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel NOT_TRANSLATED -en nl HP:0031930 rdfs:label Neurocytic rosette Neurocytic rosette NOT_TRANSLATED -en nl HP:0031930 IAO:0000115 A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular NOT_TRANSLATED -en nl HP:0031931 rdfs:label Ocular flutter Ocular flutter NOT_TRANSLATED -en nl HP:0031931 IAO:0000115 Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation NOT_TRANSLATED -en nl HP:0031932 rdfs:label Aorto-left ventricular tunnel Aorto-left ventricular tunnel NOT_TRANSLATED -en nl HP:0031932 IAO:0000115 Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity NOT_TRANSLATED -en nl HP:0031933 rdfs:label Aorto-right ventricular tunnel Aorto-right ventricular tunnel NOT_TRANSLATED -en nl HP:0031933 IAO:0000115 The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle NOT_TRANSLATED -en nl HP:0031934 rdfs:label Abnormal descending aorta morphology Abnormal descending aorta morphology NOT_TRANSLATED -en nl HP:0031934 IAO:0000115 A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen NOT_TRANSLATED -en nl HP:0031935 rdfs:label Ascending aorta hypoplasia Ascending aorta hypoplasia NOT_TRANSLATED -en nl HP:0031935 IAO:0000115 Significant luminal narrowing of a long segment of or the entire ascending aorta Significant luminal narrowing of a long segment of or the entire ascending aorta NOT_TRANSLATED -en nl HP:0031936 rdfs:label Delayed ability to walk Delayed ability to walk NOT_TRANSLATED -en nl HP:0031936 IAO:0000115 A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months NOT_TRANSLATED -en nl HP:0031937 rdfs:label Tachylalia Tachylalia NOT_TRANSLATED -en nl HP:0031937 IAO:0000115 Extreme rapidity of speech Extreme rapidity of speech NOT_TRANSLATED -en nl HP:0031938 rdfs:label Abnormal conus terminalis morphology Abnormal conus terminalis morphology NOT_TRANSLATED -en nl HP:0031938 IAO:0000115 Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae) Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae) NOT_TRANSLATED -en nl HP:0031939 rdfs:label Conus terminalis arteriovenous malformation Conus terminalis arteriovenous malformation NOT_TRANSLATED -en nl HP:0031941 rdfs:label Abnormal portal venous system morphology Abnormal portal venous system morphology NOT_TRANSLATED -en nl HP:0031941 IAO:0000115 Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins NOT_TRANSLATED -en nl HP:0031942 rdfs:label Congenital absence of portal vein Congenital absence of portal vein NOT_TRANSLATED -en nl HP:0031942 IAO:0000115 Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts NOT_TRANSLATED -en nl HP:0031943 rdfs:label Akathisia Akathisia NOT_TRANSLATED -en nl HP:0031943 IAO:0000115 A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria NOT_TRANSLATED -en nl HP:0031944 rdfs:label Pleural thickening Pleural thickening NOT_TRANSLATED -en nl HP:0031944 IAO:0000115 An increase in the thickness of the pleura, generally related to scarring of the pleural tissue An increase in the thickness of the pleura, generally related to scarring of the pleural tissue NOT_TRANSLATED -en nl HP:0031945 rdfs:label Elevated circulating N,N-dimethylglycine concentration Elevated circulating N,N-dimethylglycine concentration NOT_TRANSLATED -en nl HP:0031945 IAO:0000115 An increased concentration of N,N-dimethylglycine in the circulation An increased concentration of N,N-dimethylglycine in the circulation NOT_TRANSLATED -en nl HP:0031946 rdfs:label Elevated urinary N,N-dimethylglycine level Elevated urinary N,N-dimethylglycine level NOT_TRANSLATED -en nl HP:0031946 IAO:0000115 An increased concentration of N,N-dimethylglycine in the urine An increased concentration of N,N-dimethylglycine in the urine NOT_TRANSLATED -en nl HP:0031947 rdfs:label Tongue tremor Tongue tremor NOT_TRANSLATED -en nl HP:0031947 IAO:0000115 An unintentional, oscillating to-and-fro muscle movement affecting the tongue An unintentional, oscillating to-and-fro muscle movement affecting the tongue NOT_TRANSLATED -en nl HP:0031948 rdfs:label Snowball lesion of corpus callosum Snowball lesion of corpus callosum NOT_TRANSLATED -en nl HP:0031948 IAO:0000115 Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome NOT_TRANSLATED -en nl HP:0031949 rdfs:label Recurrent bacterial upper respiratory tract infections Recurrent bacterial upper respiratory tract infections NOT_TRANSLATED -en nl HP:0031949 IAO:0000115 An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) NOT_TRANSLATED -en nl HP:0031950 rdfs:label Usual interstitial pneumonia Usual interstitial pneumonia NOT_TRANSLATED -en nl HP:0031950 IAO:0000115 Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing NOT_TRANSLATED -en nl HP:0031951 rdfs:label Nocturnal seizures Nocturnal seizures NOT_TRANSLATED -en nl HP:0031951 IAO:0000115 Seizures that occur while the affected individual is sleeping Seizures that occur while the affected individual is sleeping NOT_TRANSLATED -en nl HP:0031952 rdfs:label Neurogenic claudication Neurogenic claudication NOT_TRANSLATED -en nl HP:0031952 IAO:0000115 Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine NOT_TRANSLATED -en nl HP:0031953 rdfs:label Cautious gait Cautious gait NOT_TRANSLATED -en nl HP:0031953 IAO:0000115 Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen NOT_TRANSLATED -en nl HP:0031954 rdfs:label Dystonic gait Dystonic gait NOT_TRANSLATED -en nl HP:0031954 IAO:0000115 Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients NOT_TRANSLATED -en nl HP:0031955 rdfs:label Antalgic gait Antalgic gait NOT_TRANSLATED -en nl HP:0031955 IAO:0000115 To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position NOT_TRANSLATED -en nl HP:0031956 rdfs:label Elevated circulating aspartate aminotransferase concentration Elevated circulating aspartate aminotransferase concentration NOT_TRANSLATED -en nl HP:0031956 IAO:0000115 An abnormally high concentration in the circulation of aspartate aminotransferase (AST) An abnormally high concentration in the circulation of aspartate aminotransferase (AST) NOT_TRANSLATED -en nl HP:0031957 rdfs:label Spastic hemiparetic gait Spastic hemiparetic gait NOT_TRANSLATED -en nl HP:0031957 IAO:0000115 Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster NOT_TRANSLATED -en nl HP:0031958 rdfs:label Spastic paraparetic gait Spastic paraparetic gait NOT_TRANSLATED -en nl HP:0031958 IAO:0000115 A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait NOT_TRANSLATED -en nl HP:0031959 rdfs:label Leg dystonia Leg dystonia NOT_TRANSLATED -en nl HP:0031959 IAO:0000115 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs NOT_TRANSLATED -en nl HP:0031960 rdfs:label Arm dystonia Arm dystonia NOT_TRANSLATED -en nl HP:0031960 IAO:0000115 A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms NOT_TRANSLATED -en nl HP:0031961 rdfs:label Abnormal serum anion gap Abnormal serum anion gap NOT_TRANSLATED -en nl HP:0031961 IAO:0000115 Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration NOT_TRANSLATED -en nl HP:0031962 rdfs:label Elevated serum anion gap Elevated serum anion gap NOT_TRANSLATED -en nl HP:0031962 IAO:0000115 An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) NOT_TRANSLATED -en nl HP:0031963 rdfs:label Decreased serum anion gap Decreased serum anion gap NOT_TRANSLATED -en nl HP:0031963 IAO:0000115 An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) NOT_TRANSLATED -en nl HP:0031964 rdfs:label Elevated circulating alanine aminotransferase concentration Elevated circulating alanine aminotransferase concentration NOT_TRANSLATED -en nl HP:0031964 IAO:0000115 An abnormally high concentration in the circulation of alanine aminotransferase (ALT) An abnormally high concentration in the circulation of alanine aminotransferase (ALT) NOT_TRANSLATED -en nl HP:0031965 rdfs:label Increased RBC distribution width Increased RBC distribution width NOT_TRANSLATED -en nl HP:0031965 IAO:0000115 Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage NOT_TRANSLATED -en nl HP:0031967 rdfs:label Cloudy urine Cloudy urine NOT_TRANSLATED -en nl HP:0031967 IAO:0000115 The appearance of the urine having visible material in suspension, i.e., appearing cloudy The appearance of the urine having visible material in suspension, i.e., appearing cloudy NOT_TRANSLATED -en nl HP:0031969 rdfs:label Reduced blood urea nitrogen Reduced blood urea nitrogen NOT_TRANSLATED -en nl HP:0031969 IAO:0000115 An abnormally low concentration of urea nitrogen in the blood An abnormally low concentration of urea nitrogen in the blood NOT_TRANSLATED -en nl HP:0031970 rdfs:label Abnormal blood urea nitrogen concentration Abnormal blood urea nitrogen concentration NOT_TRANSLATED -en nl HP:0031970 IAO:0000115 Any deviation from the normal concentration of urea nitrogen in the blood Any deviation from the normal concentration of urea nitrogen in the blood NOT_TRANSLATED -en nl HP:0031971 rdfs:label Subaortic ventricular septal bulge Subaortic ventricular septal bulge NOT_TRANSLATED -en nl HP:0031971 IAO:0000115 A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy NOT_TRANSLATED -en nl HP:0031972 rdfs:label Presyncope Presyncope NOT_TRANSLATED -en nl HP:0031972 IAO:0000115 Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause NOT_TRANSLATED -en nl HP:0031973 rdfs:label Increased vertical cup-to-disc ratio Increased vertical cup-to-disc ratio NOT_TRANSLATED -en nl HP:0031973 IAO:0000115 An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc NOT_TRANSLATED -en nl HP:0031974 rdfs:label Increased vertical cup-to-disc ratio - 0.6 Increased vertical cup-to-disc ratio - 0.6 NOT_TRANSLATED -en nl HP:0031974 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED -en nl HP:0031975 rdfs:label Increased vertical cup-to-disc ratio - 0.7 Increased vertical cup-to-disc ratio - 0.7 NOT_TRANSLATED -en nl HP:0031975 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED -en nl HP:0031976 rdfs:label Increased vertical cup-to-disc ratio - 0.8 Increased vertical cup-to-disc ratio - 0.8 NOT_TRANSLATED -en nl HP:0031976 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED -en nl HP:0031977 rdfs:label Increased vertical cup-to-disc ratio - 0.9 Increased vertical cup-to-disc ratio - 0.9 NOT_TRANSLATED -en nl HP:0031977 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED -en nl HP:0031978 rdfs:label Increased vertical cup-to-disc ratio - 1.0 Increased vertical cup-to-disc ratio - 1.0 NOT_TRANSLATED -en nl HP:0031978 IAO:0000115 Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED -en nl HP:0031979 rdfs:label Abnormal urine carbohydrate level Abnormal urine carbohydrate level NOT_TRANSLATED -en nl HP:0031979 IAO:0000115 Any deviation from the normal concentration of a carbohydrate in the urine Any deviation from the normal concentration of a carbohydrate in the urine NOT_TRANSLATED -en nl HP:0031980 rdfs:label Abnormal urine carboxylic acid level Abnormal urine carboxylic acid level NOT_TRANSLATED -en nl HP:0031980 IAO:0000115 Any deviation from the normal concentration of a carboxylic acid in the urine Any deviation from the normal concentration of a carboxylic acid in the urine NOT_TRANSLATED -en nl HP:0031981 rdfs:label Elevated urine glycolate Elevated urine glycolate NOT_TRANSLATED -en nl HP:0031981 IAO:0000115 An increased concentration of glycolate in the urine An increased concentration of glycolate in the urine NOT_TRANSLATED -en nl HP:0031982 rdfs:label Abnormal putamen morphology Abnormal putamen morphology NOT_TRANSLATED -en nl HP:0031982 IAO:0000115 Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum NOT_TRANSLATED -en nl HP:0031983 rdfs:label Abnormal pulmonary thoracic imaging finding Abnormal pulmonary thoracic imaging finding NOT_TRANSLATED -en nl HP:0031983 IAO:0000115 This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density NOT_TRANSLATED -en nl HP:0031984 rdfs:label Esophageal food impaction Esophageal food impaction NOT_TRANSLATED -en nl HP:0031984 IAO:0000115 A piece of food that has gotten stuck in the esophagus and prevents further swallowing A piece of food that has gotten stuck in the esophagus and prevents further swallowing NOT_TRANSLATED -en nl HP:0031985 rdfs:label Esophageal exudate Esophageal exudate NOT_TRANSLATED -en nl HP:0031985 IAO:0000115 An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa NOT_TRANSLATED -en nl HP:0031986 rdfs:label Polyminimyoclonus Polyminimyoclonus NOT_TRANSLATED -en nl HP:0031986 IAO:0000115 Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant NOT_TRANSLATED -en nl HP:0031987 rdfs:label Diminished ability to concentrate Diminished ability to concentrate NOT_TRANSLATED -en nl HP:0031987 IAO:0000115 Being unable to focus one's attention or mental effort on a particular object or activity Being unable to focus one's attention or mental effort on a particular object or activity NOT_TRANSLATED -en nl HP:0031989 rdfs:label Perioral spasm Perioral spasm NOT_TRANSLATED -en nl HP:0031989 IAO:0000115 A sudden involuntary contraction of the musculature surrounding the mouth A sudden involuntary contraction of the musculature surrounding the mouth NOT_TRANSLATED -en nl HP:0031990 rdfs:label Chvostek sign Chvostek sign NOT_TRANSLATED -en nl HP:0031990 IAO:0000115 A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve NOT_TRANSLATED -en nl HP:0031991 rdfs:label Increased urinary excretion of galactosyl hydroxylysine Increased urinary excretion of galactosyl hydroxylysine NOT_TRANSLATED -en nl HP:0031991 IAO:0000115 An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption NOT_TRANSLATED -en nl HP:0031992 rdfs:label Apical hypertrophic cardiomyopathy Apical hypertrophic cardiomyopathy NOT_TRANSLATED -en nl HP:0031992 IAO:0000115 Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity NOT_TRANSLATED -en nl HP:0031993 rdfs:label Hoffmann sign Hoffmann sign NOT_TRANSLATED -en nl HP:0031993 IAO:0000115 A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test NOT_TRANSLATED -en nl HP:0031994 rdfs:label Bronchial breath sound Bronchial breath sound NOT_TRANSLATED -en nl HP:0031994 IAO:0000115 Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy NOT_TRANSLATED -en nl HP:0031995 rdfs:label Squawks Squawks NOT_TRANSLATED -en nl HP:0031995 IAO:0000115 Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles NOT_TRANSLATED -en nl HP:0031996 rdfs:label Inspiratory crackles Inspiratory crackles NOT_TRANSLATED -en nl HP:0031996 IAO:0000115 Crackles that are heard during the inspiratory phase Crackles that are heard during the inspiratory phase NOT_TRANSLATED -en nl HP:0031997 rdfs:label Early inspiratory crackles Early inspiratory crackles NOT_TRANSLATED -en nl HP:0031997 IAO:0000115 Crackles that appear at the beginning of inspiration and end before mid-inspiration Crackles that appear at the beginning of inspiration and end before mid-inspiration NOT_TRANSLATED -en nl HP:0031998 rdfs:label Late inspiratory crackles Late inspiratory crackles NOT_TRANSLATED -en nl HP:0031998 IAO:0000115 Crackles that appear any time after the beginning of inspiration and last till the end of inspiration Crackles that appear any time after the beginning of inspiration and last till the end of inspiration NOT_TRANSLATED -en nl HP:0031999 rdfs:label Expiratory crackles Expiratory crackles NOT_TRANSLATED -en nl HP:0031999 IAO:0000115 Crackles that occur during expiration Crackles that occur during expiration NOT_TRANSLATED -en nl HP:0032000 rdfs:label Pleural rub Pleural rub NOT_TRANSLATED -en nl HP:0032000 IAO:0000115 An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles NOT_TRANSLATED -en nl HP:0032001 rdfs:label Pink urine Pink urine NOT_TRANSLATED -en nl HP:0032001 IAO:0000115 An abnormal pink color of urine An abnormal pink color of urine NOT_TRANSLATED -en nl HP:0032002 rdfs:label Orange urine Orange urine NOT_TRANSLATED -en nl HP:0032002 IAO:0000115 An abnormal orange color of urine An abnormal orange color of urine NOT_TRANSLATED -en nl HP:0032003 rdfs:label Green urine Green urine NOT_TRANSLATED -en nl HP:0032003 IAO:0000115 An abnormal green color of urine An abnormal green color of urine NOT_TRANSLATED -en nl HP:0032004 rdfs:label Pruritus vulvae Pruritus vulvae NOT_TRANSLATED -en nl HP:0032004 IAO:0000115 A sensation of itching in the vulvar region A sensation of itching in the vulvar region NOT_TRANSLATED -en nl HP:0032005 rdfs:label Hemidystonia Hemidystonia NOT_TRANSLATED -en nl HP:0032005 IAO:0000115 Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg NOT_TRANSLATED -en nl HP:0032006 rdfs:label Lip tremor Lip tremor NOT_TRANSLATED -en nl HP:0032006 IAO:0000115 An unintentional, oscillating to-and-fro muscle movement affecting the lip An unintentional, oscillating to-and-fro muscle movement affecting the lip NOT_TRANSLATED -en nl HP:0032007 rdfs:label Maceration Maceration NOT_TRANSLATED -en nl HP:0032007 IAO:0000115 A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue NOT_TRANSLATED -en nl HP:0032008 rdfs:label Pulmonary fat embolism Pulmonary fat embolism NOT_TRANSLATED -en nl HP:0032008 IAO:0000115 The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung NOT_TRANSLATED -en nl HP:0032009 rdfs:label Infantile constant exotropia Infantile constant exotropia NOT_TRANSLATED -en nl HP:0032009 IAO:0000115 Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities NOT_TRANSLATED -en nl HP:0032010 rdfs:label Basic constant exotropia Basic constant exotropia NOT_TRANSLATED -en nl HP:0032010 IAO:0000115 Constant exotropia for near and distance, presenting after 6 months of age Constant exotropia for near and distance, presenting after 6 months of age NOT_TRANSLATED -en nl HP:0032011 rdfs:label Heterophoria Heterophoria NOT_TRANSLATED -en nl HP:0032011 IAO:0000115 Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs NOT_TRANSLATED -en nl HP:0032012 rdfs:label Heterotropia Heterotropia NOT_TRANSLATED -en nl HP:0032012 IAO:0000115 Manifest deviation of the visual axes not controlled by fusion Manifest deviation of the visual axes not controlled by fusion NOT_TRANSLATED -en nl HP:0032013 rdfs:label Hypermetric horizontal saccades Hypermetric horizontal saccades NOT_TRANSLATED -en nl HP:0032013 IAO:0000115 Overshoot of horizontal (sideways) saccadic eye movements Overshoot of horizontal (sideways) saccadic eye movements NOT_TRANSLATED -en nl HP:0032014 rdfs:label Dysmetric vertical saccades Dysmetric vertical saccades NOT_TRANSLATED -en nl HP:0032014 IAO:0000115 Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction NOT_TRANSLATED -en nl HP:0032015 rdfs:label Dysmetric horizontal saccades Dysmetric horizontal saccades NOT_TRANSLATED -en nl HP:0032015 IAO:0000115 Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction NOT_TRANSLATED -en nl HP:0032016 rdfs:label Abnormal sputum Abnormal sputum NOT_TRANSLATED -en nl HP:0032016 IAO:0000115 Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin NOT_TRANSLATED -en nl HP:0032017 rdfs:label Sputum eosinophilia Sputum eosinophilia NOT_TRANSLATED -en nl HP:0032017 IAO:0000115 An increased proportion of eosinophils in sputum in the differentiated cell count An increased proportion of eosinophils in sputum in the differentiated cell count NOT_TRANSLATED -en nl HP:0032018 rdfs:label Multiple mononeuropathy Multiple mononeuropathy NOT_TRANSLATED -en nl HP:0032018 IAO:0000115 A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially NOT_TRANSLATED -en nl HP:0032019 rdfs:label Muscle eosinophilia Muscle eosinophilia NOT_TRANSLATED -en nl HP:0032019 IAO:0000115 Eosinophil infiltration of skeletal muscle Eosinophil infiltration of skeletal muscle NOT_TRANSLATED -en nl HP:0032020 rdfs:label Eosinophilic bladder infiltration Eosinophilic bladder infiltration NOT_TRANSLATED -en nl HP:0032020 IAO:0000115 Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis NOT_TRANSLATED -en nl HP:0032021 rdfs:label Eosinophilic liver infiltration Eosinophilic liver infiltration NOT_TRANSLATED -en nl HP:0032021 IAO:0000115 Cellular infiltration of the liver parenchyma with a preponderance of eosinophils Cellular infiltration of the liver parenchyma with a preponderance of eosinophils NOT_TRANSLATED -en nl HP:0032022 rdfs:label Eosinophilic dermal infiltration Eosinophilic dermal infiltration NOT_TRANSLATED -en nl HP:0032022 IAO:0000115 Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils NOT_TRANSLATED -en nl HP:0032023 rdfs:label Eosinophilic gallbladder infiltration Eosinophilic gallbladder infiltration NOT_TRANSLATED -en nl HP:0032023 IAO:0000115 Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination NOT_TRANSLATED -en nl HP:0032024 rdfs:label Ileal ulcer Ileal ulcer NOT_TRANSLATED -en nl HP:0032024 IAO:0000115 An erosion of the mucous membrane in a portion of the ileum An erosion of the mucous membrane in a portion of the ileum NOT_TRANSLATED -en nl HP:0032025 rdfs:label Reduced serum alpha-1-antitrypsin Reduced serum alpha-1-antitrypsin NOT_TRANSLATED -en nl HP:0032025 IAO:0000115 A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs NOT_TRANSLATED -en nl HP:0032026 rdfs:label Anetoderma Anetoderma NOT_TRANSLATED -en nl HP:0032026 IAO:0000115 Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis NOT_TRANSLATED -en nl HP:0032027 rdfs:label Retinal dots Retinal dots NOT_TRANSLATED -en nl HP:0032027 IAO:0000115 Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED -en nl HP:0032028 rdfs:label Macular dots Macular dots NOT_TRANSLATED -en nl HP:0032028 IAO:0000115 Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED -en nl HP:0032029 rdfs:label Floppy eyelid Floppy eyelid NOT_TRANSLATED -en nl HP:0032029 IAO:0000115 Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis NOT_TRANSLATED -en nl HP:0032030 rdfs:label Lateral canthal tendon laxity Lateral canthal tendon laxity NOT_TRANSLATED -en nl HP:0032030 IAO:0000115 Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed NOT_TRANSLATED -en nl HP:0032031 rdfs:label Medial canthal tendon laxity Medial canthal tendon laxity NOT_TRANSLATED -en nl HP:0032031 IAO:0000115 Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally NOT_TRANSLATED -en nl HP:0032032 rdfs:label Horizontal eyelid laxity Horizontal eyelid laxity NOT_TRANSLATED -en nl HP:0032032 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present NOT_TRANSLATED -en nl HP:0032033 rdfs:label Vertical eyelid laxity Vertical eyelid laxity NOT_TRANSLATED -en nl HP:0032033 IAO:0000115 Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present NOT_TRANSLATED -en nl HP:0032034 rdfs:label Upper eyelid laxity Upper eyelid laxity NOT_TRANSLATED -en nl HP:0032034 IAO:0000115 Abnormally lax upper eyelid associated with tissue relaxation Abnormally lax upper eyelid associated with tissue relaxation NOT_TRANSLATED -en nl HP:0032035 rdfs:label Lower eyelid laxity Lower eyelid laxity NOT_TRANSLATED -en nl HP:0032035 IAO:0000115 Abnormally lax lower eyelid associated with tissue relaxation Abnormally lax lower eyelid associated with tissue relaxation NOT_TRANSLATED -en nl HP:0032036 rdfs:label Reduced contrast sensitivity Reduced contrast sensitivity NOT_TRANSLATED -en nl HP:0032036 IAO:0000115 An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target NOT_TRANSLATED -en nl HP:0032037 rdfs:label Mildly reduced visual acuity Mildly reduced visual acuity NOT_TRANSLATED -en nl HP:0032037 IAO:0000115 Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) NOT_TRANSLATED -en nl HP:0032039 rdfs:label Abnormality of the ocular adnexa Abnormality of the ocular adnexa NOT_TRANSLATED -en nl HP:0032039 IAO:0000115 An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva NOT_TRANSLATED -en nl HP:0032040 rdfs:label Abnormal ocular adnexa physiology Abnormal ocular adnexa physiology NOT_TRANSLATED -en nl HP:0032040 IAO:0000115 A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva NOT_TRANSLATED -en nl HP:0032041 rdfs:label Vocal cord polyp Vocal cord polyp NOT_TRANSLATED -en nl HP:0032041 IAO:0000115 A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color NOT_TRANSLATED -en nl HP:0032043 rdfs:label Odynophagia Odynophagia NOT_TRANSLATED -en nl HP:0032043 IAO:0000115 Pain experienced with swallowing Pain experienced with swallowing NOT_TRANSLATED -en nl HP:0032044 rdfs:label Decreased vigilance Decreased vigilance NOT_TRANSLATED -en nl HP:0032044 IAO:0000115 A reduction in the ability to maintain sustained attention characterized by reduced alertness A reduction in the ability to maintain sustained attention characterized by reduced alertness NOT_TRANSLATED -en nl HP:0032045 rdfs:label Hypoplastic carotid canal Hypoplastic carotid canal NOT_TRANSLATED -en nl HP:0032045 IAO:0000115 Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse NOT_TRANSLATED -en nl HP:0032046 rdfs:label Focal cortical dysplasia Focal cortical dysplasia NOT_TRANSLATED -en nl HP:0032046 IAO:0000115 A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons NOT_TRANSLATED -en nl HP:0032047 rdfs:label Focal cortical dysplasia type I Focal cortical dysplasia type I NOT_TRANSLATED -en nl HP:0032047 IAO:0000115 A type of focal cortical dysplasia that is characterized by abnormal cortical layering A type of focal cortical dysplasia that is characterized by abnormal cortical layering NOT_TRANSLATED -en nl HP:0032048 rdfs:label Focal cortical dysplasia type Ia Focal cortical dysplasia type Ia NOT_TRANSLATED -en nl HP:0032048 IAO:0000115 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination NOT_TRANSLATED -en nl HP:0032049 rdfs:label Focal cortical dysplasia type Ib Focal cortical dysplasia type Ib NOT_TRANSLATED -en nl HP:0032049 IAO:0000115 A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination NOT_TRANSLATED -en nl HP:0032050 rdfs:label Focal cortical dysplasia type Ic Focal cortical dysplasia type Ic NOT_TRANSLATED -en nl HP:0032050 IAO:0000115 A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination NOT_TRANSLATED -en nl HP:0032051 rdfs:label Focal cortical dysplasia type II Focal cortical dysplasia type II NOT_TRANSLATED -en nl HP:0032051 IAO:0000115 A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities NOT_TRANSLATED -en nl HP:0032052 rdfs:label Focal cortical dysplasia type IIa Focal cortical dysplasia type IIa NOT_TRANSLATED -en nl HP:0032052 IAO:0000115 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins NOT_TRANSLATED -en nl HP:0032053 rdfs:label Focal cortical dysplasia type IIb Focal cortical dysplasia type IIb NOT_TRANSLATED -en nl HP:0032053 IAO:0000115 A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells NOT_TRANSLATED -en nl HP:0032054 rdfs:label Focal cortical dysplasia type III Focal cortical dysplasia type III NOT_TRANSLATED -en nl HP:0032054 IAO:0000115 A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe NOT_TRANSLATED -en nl HP:0032055 rdfs:label Focal cortical dysplasia type IIIa Focal cortical dysplasia type IIIa NOT_TRANSLATED -en nl HP:0032055 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) NOT_TRANSLATED -en nl HP:0032056 rdfs:label Focal cortical dysplasia type IIIb Focal cortical dysplasia type IIIb NOT_TRANSLATED -en nl HP:0032056 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor NOT_TRANSLATED -en nl HP:0032057 rdfs:label Focal cortical dysplasia type IIIc Focal cortical dysplasia type IIIc NOT_TRANSLATED -en nl HP:0032057 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis) A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis) NOT_TRANSLATED -en nl HP:0032058 rdfs:label Focal cortical dysplasia type IIId Focal cortical dysplasia type IIId NOT_TRANSLATED -en nl HP:0032058 IAO:0000115 A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections NOT_TRANSLATED -en nl HP:0032059 rdfs:label Mild malformation of cortical development Mild malformation of cortical development NOT_TRANSLATED -en nl HP:0032059 IAO:0000115 A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter NOT_TRANSLATED -en nl HP:0032060 rdfs:label Epithelioid hemangioma Epithelioid hemangioma NOT_TRANSLATED -en nl HP:0032060 IAO:0000115 A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area NOT_TRANSLATED -en nl HP:0032061 rdfs:label Hypereosinophilia Hypereosinophilia NOT_TRANSLATED -en nl HP:0032061 IAO:0000115 A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter NOT_TRANSLATED -en nl HP:0032062 rdfs:label Mallory-Weiss tear Mallory-Weiss tear NOT_TRANSLATED -en nl HP:0032062 IAO:0000115 Vomiting-induced mucosal laceration at the esophago-gastric junction Vomiting-induced mucosal laceration at the esophago-gastric junction NOT_TRANSLATED -en nl HP:0032063 rdfs:label Ankle joint effusion Ankle joint effusion NOT_TRANSLATED -en nl HP:0032063 IAO:0000115 Abnormal accumulation of fluid in or around the ankle joint Abnormal accumulation of fluid in or around the ankle joint NOT_TRANSLATED -en nl HP:0032064 rdfs:label Gastrointestinal eosinophilia Gastrointestinal eosinophilia NOT_TRANSLATED -en nl HP:0032064 IAO:0000115 Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them NOT_TRANSLATED -en nl HP:0032065 rdfs:label Abnormal serum bicarbonate concentration Abnormal serum bicarbonate concentration NOT_TRANSLATED -en nl HP:0032065 IAO:0000115 Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation NOT_TRANSLATED -en nl HP:0032066 rdfs:label Decreased serum bicarbonate concentration Decreased serum bicarbonate concentration NOT_TRANSLATED -en nl HP:0032066 IAO:0000115 An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation NOT_TRANSLATED -en nl HP:0032067 rdfs:label Elevated serum bicarbonate concentration Elevated serum bicarbonate concentration NOT_TRANSLATED -en nl HP:0032067 IAO:0000115 An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation NOT_TRANSLATED -en nl HP:0032068 rdfs:label Increased urinary mucus Increased urinary mucus NOT_TRANSLATED -en nl HP:0032068 IAO:0000115 An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis NOT_TRANSLATED -en nl HP:0032069 rdfs:label Anti-thyroglobulin antibody positivity Anti-thyroglobulin antibody positivity NOT_TRANSLATED -en nl HP:0032069 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin NOT_TRANSLATED -en nl HP:0032070 rdfs:label Leptomeningeal enhancement Leptomeningeal enhancement NOT_TRANSLATED -en nl HP:0032070 IAO:0000115 Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis NOT_TRANSLATED -en nl HP:0032071 rdfs:label Eosinophilic pneumonia Eosinophilic pneumonia NOT_TRANSLATED -en nl HP:0032071 IAO:0000115 The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia NOT_TRANSLATED -en nl HP:0032072 rdfs:label Popliteal synovial cyst Popliteal synovial cyst NOT_TRANSLATED -en nl HP:0032072 IAO:0000115 A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle NOT_TRANSLATED -en nl HP:0032073 rdfs:label Aplasia of the fallopian tube Aplasia of the fallopian tube NOT_TRANSLATED -en nl HP:0032073 IAO:0000115 Aplasia, that is failure to develop, of the fallopian tube Aplasia, that is failure to develop, of the fallopian tube NOT_TRANSLATED -en nl HP:0032075 rdfs:label Splenopancreatic fusion Splenopancreatic fusion NOT_TRANSLATED -en nl HP:0032075 IAO:0000115 Fusion of the pancreatic tail and spleen Fusion of the pancreatic tail and spleen NOT_TRANSLATED -en nl HP:0032076 rdfs:label Abnormal male urethral meatus morphology Abnormal male urethral meatus morphology NOT_TRANSLATED -en nl HP:0032077 rdfs:label Male urethral meatus stenosis Male urethral meatus stenosis NOT_TRANSLATED -en nl HP:0032077 IAO:0000115 An abnormal narrowing of the urethral opening (meatus) of the penis An abnormal narrowing of the urethral opening (meatus) of the penis NOT_TRANSLATED -en nl HP:0032078 rdfs:label Angel-shaped phalanx Angel-shaped phalanx NOT_TRANSLATED -en nl HP:0032078 IAO:0000115 A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head) A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head) NOT_TRANSLATED -en nl HP:0032079 rdfs:label Medial degeneration Medial degeneration NOT_TRANSLATED -en nl HP:0032079 IAO:0000115 Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections NOT_TRANSLATED -en nl HP:0032081 rdfs:label Intralamellar mucoid extracellular matrix accumulation Intralamellar mucoid extracellular matrix accumulation NOT_TRANSLATED -en nl HP:0032081 IAO:0000115 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units NOT_TRANSLATED -en nl HP:0032082 rdfs:label Translamellar mucoid extracellular matrix accumulation Translamellar mucoid extracellular matrix accumulation NOT_TRANSLATED -en nl HP:0032082 IAO:0000115 A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees NOT_TRANSLATED -en nl HP:0032083 rdfs:label Aortic elastic fiber fragmentation Aortic elastic fiber fragmentation NOT_TRANSLATED -en nl HP:0032083 IAO:0000115 Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers NOT_TRANSLATED -en nl HP:0032084 rdfs:label Aortic elastic fiber thinning Aortic elastic fiber thinning NOT_TRANSLATED -en nl HP:0032084 IAO:0000115 A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers NOT_TRANSLATED -en nl HP:0032085 rdfs:label Aortic elastic fiber disorganization Aortic elastic fiber disorganization NOT_TRANSLATED -en nl HP:0032085 IAO:0000115 Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers NOT_TRANSLATED -en nl HP:0032086 rdfs:label Aortic smooth muscle cell nuclei loss Aortic smooth muscle cell nuclei loss NOT_TRANSLATED -en nl HP:0032086 IAO:0000115 A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain NOT_TRANSLATED -en nl HP:0032087 rdfs:label Aortic laminar medial collapse Aortic laminar medial collapse NOT_TRANSLATED -en nl HP:0032087 IAO:0000115 Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers NOT_TRANSLATED -en nl HP:0032088 rdfs:label Aortic smooth muscle cell disorganization Aortic smooth muscle cell disorganization NOT_TRANSLATED -en nl HP:0032088 IAO:0000115 Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells NOT_TRANSLATED -en nl HP:0032089 rdfs:label Aortic medial fibrosis Aortic medial fibrosis NOT_TRANSLATED -en nl HP:0032089 IAO:0000115 An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units) An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units) NOT_TRANSLATED -en nl HP:0032090 rdfs:label Intralamellar aortic medial fibrosis Intralamellar aortic medial fibrosis NOT_TRANSLATED -en nl HP:0032090 IAO:0000115 A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units NOT_TRANSLATED -en nl HP:0032091 rdfs:label Translamellar aortic medial fibrosis Translamellar aortic medial fibrosis NOT_TRANSLATED -en nl HP:0032091 IAO:0000115 A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units NOT_TRANSLATED -en nl HP:0032092 rdfs:label Left ventricular outflow tract obstruction Left ventricular outflow tract obstruction NOT_TRANSLATED -en nl HP:0032092 IAO:0000115 Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle NOT_TRANSLATED -en nl HP:0032094 rdfs:label Increased circulating surfactant protein level Increased circulating surfactant protein level NOT_TRANSLATED -en nl HP:0032094 IAO:0000115 An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis NOT_TRANSLATED -en nl HP:0032096 rdfs:label Abnormal manganese concentration Abnormal manganese concentration NOT_TRANSLATED -en nl HP:0032096 IAO:0000115 A deviation from the normal range of manganese in the blood circulation A deviation from the normal range of manganese in the blood circulation NOT_TRANSLATED -en nl HP:0032097 rdfs:label Hypermanganesemia Hypermanganesemia NOT_TRANSLATED -en nl HP:0032097 IAO:0000115 An elevation above the normal concentration of manganese in the blood An elevation above the normal concentration of manganese in the blood NOT_TRANSLATED -en nl HP:0032098 rdfs:label Hypomanganesemia Hypomanganesemia NOT_TRANSLATED -en nl HP:0032098 IAO:0000115 A reduction below the normal concentration of manganese in the blood A reduction below the normal concentration of manganese in the blood NOT_TRANSLATED -en nl HP:0032099 rdfs:label Perioral radial furrowing Perioral radial furrowing NOT_TRANSLATED -en nl HP:0032099 IAO:0000115 The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976) The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976) NOT_TRANSLATED -en nl HP:0032100 rdfs:label Abnormal doll's eye reflex Abnormal doll's eye reflex NOT_TRANSLATED -en nl HP:0032100 IAO:0000115 The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage NOT_TRANSLATED -en nl HP:0032101 rdfs:label Unusual infection Unusual infection NOT_TRANSLATED -en nl HP:0032101 IAO:0000115 A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections NOT_TRANSLATED -en nl HP:0032102 rdfs:label Wilson sign Wilson sign NOT_TRANSLATED -en nl HP:0032102 IAO:0000115 Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia NOT_TRANSLATED -en nl HP:0032104 rdfs:label Saccadic oscillation Saccadic oscillation NOT_TRANSLATED -en nl HP:0032104 IAO:0000115 An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade NOT_TRANSLATED -en nl HP:0032105 rdfs:label Macrosaccadic oscillations Macrosaccadic oscillations NOT_TRANSLATED -en nl HP:0032105 IAO:0000115 A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern NOT_TRANSLATED -en nl HP:0032106 rdfs:label Conjunctival icterus Conjunctival icterus NOT_TRANSLATED -en nl HP:0032106 IAO:0000115 Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease NOT_TRANSLATED -en nl HP:0032107 rdfs:label Limbal stem cell deficiency Limbal stem cell deficiency NOT_TRANSLATED -en nl HP:0032107 IAO:0000115 A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus NOT_TRANSLATED -en nl HP:0032108 rdfs:label Mildly reduced contrast sensitivity Mildly reduced contrast sensitivity NOT_TRANSLATED -en nl HP:0032108 IAO:0000115 A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss NOT_TRANSLATED -en nl HP:0032109 rdfs:label Moderately reduced contrast sensitivity Moderately reduced contrast sensitivity NOT_TRANSLATED -en nl HP:0032109 IAO:0000115 A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss NOT_TRANSLATED -en nl HP:0032110 rdfs:label Severely reduced contrast sensitivity Severely reduced contrast sensitivity NOT_TRANSLATED -en nl HP:0032110 IAO:0000115 A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss NOT_TRANSLATED -en nl HP:0032111 rdfs:label Abnormal Vistech contrast sensitivity test Abnormal Vistech contrast sensitivity test NOT_TRANSLATED -en nl HP:0032111 IAO:0000115 An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test NOT_TRANSLATED -en nl HP:0032112 rdfs:label Abnormal Pelli Robson contrast sensitivity chart test Abnormal Pelli Robson contrast sensitivity chart test NOT_TRANSLATED -en nl HP:0032112 IAO:0000115 An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast NOT_TRANSLATED -en nl HP:0032113 rdfs:label Semidominant inheritance Semidominant inheritance NOT_TRANSLATED -en nl HP:0032113 IAO:0000115 A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected NOT_TRANSLATED -en nl HP:0032114 rdfs:label Saccadic intrusion Saccadic intrusion NOT_TRANSLATED -en nl HP:0032114 IAO:0000115 An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade NOT_TRANSLATED -en nl HP:0032116 rdfs:label Macrosquare-wave jerks Macrosquare-wave jerks NOT_TRANSLATED -en nl HP:0032116 IAO:0000115 Horizontal 10-40 degree excursions from fixation and back again Horizontal 10-40 degree excursions from fixation and back again NOT_TRANSLATED -en nl HP:0032118 rdfs:label Retinitis Retinitis NOT_TRANSLATED -en nl HP:0032118 IAO:0000115 Inflammation of the retina of the eye Inflammation of the retina of the eye NOT_TRANSLATED -en nl HP:0032119 rdfs:label Narrow angle glaucoma Narrow angle glaucoma NOT_TRANSLATED -en nl HP:0032119 IAO:0000115 A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle NOT_TRANSLATED -en nl HP:0032120 rdfs:label Abnormal peripheral nervous system physiology Abnormal peripheral nervous system physiology NOT_TRANSLATED -en nl HP:0032120 IAO:0000115 Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord NOT_TRANSLATED -en nl HP:0032121 rdfs:label Froment sign Froment sign NOT_TRANSLATED -en nl HP:0032121 IAO:0000115 An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint NOT_TRANSLATED -en nl HP:0032122 rdfs:label Very low visual acuity Very low visual acuity NOT_TRANSLATED -en nl HP:0032122 IAO:0000115 A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590) A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590) NOT_TRANSLATED -en nl HP:0032123 rdfs:label Ultra-low vision Ultra-low vision NOT_TRANSLATED -en nl HP:0032123 IAO:0000115 Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590) Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590) NOT_TRANSLATED -en nl HP:0032124 rdfs:label Abnormal proportion of unswitched memory B cells Abnormal proportion of unswitched memory B cells NOT_TRANSLATED -en nl HP:0032124 IAO:0000115 A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells NOT_TRANSLATED -en nl HP:0032125 rdfs:label Increased proportion of unswitched memory B cells Increased proportion of unswitched memory B cells NOT_TRANSLATED -en nl HP:0032125 IAO:0000115 An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells NOT_TRANSLATED -en nl HP:0032126 rdfs:label Decreased proportion of unswitched memory B cells Decreased proportion of unswitched memory B cells NOT_TRANSLATED -en nl HP:0032126 IAO:0000115 A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells NOT_TRANSLATED -en nl HP:0032127 rdfs:label Abnormal plasmablast proportion Abnormal plasmablast proportion NOT_TRANSLATED -en nl HP:0032127 IAO:0000115 A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination NOT_TRANSLATED -en nl HP:0032128 rdfs:label Increased proportion of plasmablasts Increased proportion of plasmablasts NOT_TRANSLATED -en nl HP:0032128 IAO:0000115 An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells NOT_TRANSLATED -en nl HP:0032129 rdfs:label Decreased proportion of plasmablasts Decreased proportion of plasmablasts NOT_TRANSLATED -en nl HP:0032129 IAO:0000115 A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells NOT_TRANSLATED -en nl HP:0032130 rdfs:label Mycobacterium abscessus abscessus infection Mycobacterium abscessus abscessus infection NOT_TRANSLATED -en nl HP:0032130 IAO:0000115 Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections NOT_TRANSLATED -en nl HP:0032131 rdfs:label Cervical dysplasia Cervical dysplasia NOT_TRANSLATED -en nl HP:0032131 IAO:0000115 Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium NOT_TRANSLATED -en nl HP:0032132 rdfs:label Decreased circulating total IgG Decreased circulating total IgG NOT_TRANSLATED -en nl HP:0032132 IAO:0000115 A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood NOT_TRANSLATED -en nl HP:0032133 rdfs:label Transient decreased circulating total IgG Transient decreased circulating total IgG NOT_TRANSLATED -en nl HP:0032133 IAO:0000115 A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood NOT_TRANSLATED -en nl HP:0032134 rdfs:label Chronic decreased circulating total IgG Chronic decreased circulating total IgG NOT_TRANSLATED -en nl HP:0032134 IAO:0000115 A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood NOT_TRANSLATED -en nl HP:0032135 rdfs:label Decreased circulating IgG subclass level Decreased circulating IgG subclass level NOT_TRANSLATED -en nl HP:0032135 IAO:0000115 A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood NOT_TRANSLATED -en nl HP:0032136 rdfs:label Decreased circulating IgG1 level Decreased circulating IgG1 level NOT_TRANSLATED -en nl HP:0032136 IAO:0000115 A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation NOT_TRANSLATED -en nl HP:0032137 rdfs:label Decreased circulating IgG3 level Decreased circulating IgG3 level NOT_TRANSLATED -en nl HP:0032137 IAO:0000115 A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation NOT_TRANSLATED -en nl HP:0032138 rdfs:label Decreased circulating IgG4 level Decreased circulating IgG4 level NOT_TRANSLATED -en nl HP:0032138 IAO:0000115 A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation NOT_TRANSLATED -en nl HP:0032139 rdfs:label Reduced isohemagglutinin level Reduced isohemagglutinin level NOT_TRANSLATED -en nl HP:0032139 IAO:0000115 Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) NOT_TRANSLATED -en nl HP:0032140 rdfs:label Decreased specific antibody response to vaccination Decreased specific antibody response to vaccination NOT_TRANSLATED -en nl HP:0032140 IAO:0000115 A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED -en nl HP:0032141 rdfs:label Precordial pain Precordial pain NOT_TRANSLATED -en nl HP:0032141 IAO:0000115 A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck NOT_TRANSLATED -en nl HP:0032142 rdfs:label Fetor hepaticus Fetor hepaticus NOT_TRANSLATED -en nl HP:0032142 IAO:0000115 Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic NOT_TRANSLATED -en nl HP:0032143 rdfs:label Burning mouth Burning mouth NOT_TRANSLATED -en nl HP:0032143 IAO:0000115 An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa NOT_TRANSLATED -en nl HP:0032144 rdfs:label Coffee ground vomitus Coffee ground vomitus NOT_TRANSLATED -en nl HP:0032144 IAO:0000115 Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit NOT_TRANSLATED -en nl HP:0032145 rdfs:label Sural nerve atrophy Sural nerve atrophy NOT_TRANSLATED -en nl HP:0032145 IAO:0000115 Wasting of the sural nerve, a sensory nerve in the calf region of the leg Wasting of the sural nerve, a sensory nerve in the calf region of the leg NOT_TRANSLATED -en nl HP:0032146 rdfs:label HbC hemoglobin HbC hemoglobin NOT_TRANSLATED -en nl HP:0032146 IAO:0000115 Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis NOT_TRANSLATED -en nl HP:0032147 rdfs:label Erythromelalgia Erythromelalgia NOT_TRANSLATED -en nl HP:0032147 IAO:0000115 Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet NOT_TRANSLATED -en nl HP:0032148 rdfs:label Episodic pain Episodic pain NOT_TRANSLATED -en nl HP:0032148 IAO:0000115 Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals NOT_TRANSLATED -en nl HP:0032149 rdfs:label Breakthrough pain Breakthrough pain NOT_TRANSLATED -en nl HP:0032149 IAO:0000115 A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain NOT_TRANSLATED -en nl HP:0032150 rdfs:label Paroxysmal rectal pain Paroxysmal rectal pain NOT_TRANSLATED -en nl HP:0032150 IAO:0000115 Excruciating burning pain in the rectal area that may be triggered by defecation Excruciating burning pain in the rectal area that may be triggered by defecation NOT_TRANSLATED -en nl HP:0032151 rdfs:label Episodic eosinophilia Episodic eosinophilia NOT_TRANSLATED -en nl HP:0032151 IAO:0000115 Recurrent episodes of marked eosinophilia that resolve spontaneously Recurrent episodes of marked eosinophilia that resolve spontaneously NOT_TRANSLATED -en nl HP:0032152 rdfs:label Keratosis pilaris Keratosis pilaris NOT_TRANSLATED -en nl HP:0032152 IAO:0000115 An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs NOT_TRANSLATED -en nl HP:0032153 rdfs:label Joint subluxation Joint subluxation NOT_TRANSLATED -en nl HP:0032153 IAO:0000115 A partial dislocation of a joint A partial dislocation of a joint NOT_TRANSLATED -en nl HP:0032154 rdfs:label Aphthous ulcer Aphthous ulcer NOT_TRANSLATED -en nl HP:0032154 IAO:0000115 Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border NOT_TRANSLATED -en nl HP:0032155 rdfs:label Abdominal cramps Abdominal cramps NOT_TRANSLATED -en nl HP:0032155 IAO:0000115 A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity NOT_TRANSLATED -en nl HP:0032156 rdfs:label Skin detachment Skin detachment NOT_TRANSLATED -en nl HP:0032156 IAO:0000115 Loss of sections of skin either spontaneously or after gentle handling Loss of sections of skin either spontaneously or after gentle handling NOT_TRANSLATED -en nl HP:0032157 rdfs:label Recurrent genital herpes Recurrent genital herpes NOT_TRANSLATED -en nl HP:0032157 IAO:0000115 Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks NOT_TRANSLATED -en nl HP:0032158 rdfs:label Unusual infection by anatomical site Unusual infection by anatomical site NOT_TRANSLATED -en nl HP:0032158 IAO:0000115 An unusual infection classified by the affected body part An unusual infection classified by the affected body part NOT_TRANSLATED -en nl HP:0032159 rdfs:label Fungal meningitis Fungal meningitis NOT_TRANSLATED -en nl HP:0032159 IAO:0000115 An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis NOT_TRANSLATED -en nl HP:0032160 rdfs:label Cryptococcal meningitis Cryptococcal meningitis NOT_TRANSLATED -en nl HP:0032160 IAO:0000115 A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis NOT_TRANSLATED -en nl HP:0032161 rdfs:label Coccidioidal meningitis Coccidioidal meningitis NOT_TRANSLATED -en nl HP:0032161 IAO:0000115 A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges NOT_TRANSLATED -en nl HP:0032162 rdfs:label Unusual skin infection Unusual skin infection NOT_TRANSLATED -en nl HP:0032162 IAO:0000115 A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection NOT_TRANSLATED -en nl HP:0032163 rdfs:label Molluscum contagiosum Molluscum contagiosum NOT_TRANSLATED -en nl HP:0032163 IAO:0000115 Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state NOT_TRANSLATED -en nl HP:0032164 rdfs:label Increased blood folate concentration Increased blood folate concentration NOT_TRANSLATED -en nl HP:0032164 IAO:0000115 An elevated circulating concentration of folic acid, which is also known as vitamin B9 An elevated circulating concentration of folic acid, which is also known as vitamin B9 NOT_TRANSLATED -en nl HP:0032165 rdfs:label Placental mesenchymal dysplasia Placental mesenchymal dysplasia NOT_TRANSLATED -en nl HP:0032165 IAO:0000115 Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells NOT_TRANSLATED -en nl HP:0032166 rdfs:label Unusual gastrointestinal infection Unusual gastrointestinal infection NOT_TRANSLATED -en nl HP:0032167 rdfs:label Clostridium difficile enteritis Clostridium difficile enteritis NOT_TRANSLATED -en nl HP:0032167 IAO:0000115 An infection of the small intestine (enteritis) by clostridium difficile An infection of the small intestine (enteritis) by clostridium difficile NOT_TRANSLATED -en nl HP:0032168 rdfs:label Clostridium difficile colitis Clostridium difficile colitis NOT_TRANSLATED -en nl HP:0032168 IAO:0000115 An infection of the colon (colitis) by clostridium difficile An infection of the colon (colitis) by clostridium difficile NOT_TRANSLATED -en nl HP:0032169 rdfs:label Severe infection Severe infection NOT_TRANSLATED -en nl HP:0032169 IAO:0000115 A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection NOT_TRANSLATED -en nl HP:0032170 rdfs:label Severe varicella zoster infection Severe varicella zoster infection NOT_TRANSLATED -en nl HP:0032170 IAO:0000115 An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella NOT_TRANSLATED -en nl HP:0032171 rdfs:label Bladder pain Bladder pain NOT_TRANSLATED -en nl HP:0032171 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case NOT_TRANSLATED -en nl HP:0032172 rdfs:label Air crescent sign Air crescent sign NOT_TRANSLATED -en nl HP:0032172 IAO:0000115 A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan NOT_TRANSLATED -en nl HP:0032173 rdfs:label Continuous diaphragm sign Continuous diaphragm sign NOT_TRANSLATED -en nl HP:0032173 IAO:0000115 This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign NOT_TRANSLATED -en nl HP:0032174 rdfs:label Tree-in-bud pattern Tree-in-bud pattern NOT_TRANSLATED -en nl HP:0032174 IAO:0000115 The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376) The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376) NOT_TRANSLATED -en nl HP:0032175 rdfs:label Signet ring sign Signet ring sign NOT_TRANSLATED -en nl HP:0032175 IAO:0000115 This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging NOT_TRANSLATED -en nl HP:0032176 rdfs:label Apical pulmonary opacity Apical pulmonary opacity NOT_TRANSLATED -en nl HP:0032176 IAO:0000115 An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space NOT_TRANSLATED -en nl HP:0032177 rdfs:label Parenchymal consolidation Parenchymal consolidation NOT_TRANSLATED -en nl HP:0032177 IAO:0000115 Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia) Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia) NOT_TRANSLATED -en nl HP:0032178 rdfs:label Flaky paint dermatosis Flaky paint dermatosis NOT_TRANSLATED -en nl HP:0032178 IAO:0000115 A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001) A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001) NOT_TRANSLATED -en nl HP:0032179 rdfs:label Abnormal circulating globulin concentration Abnormal circulating globulin concentration NOT_TRANSLATED -en nl HP:0032179 IAO:0000115 An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode NOT_TRANSLATED -en nl HP:0032180 rdfs:label Abnormal circulating metabolite concentration Abnormal circulating metabolite concentration NOT_TRANSLATED -en nl HP:0032180 IAO:0000115 An abnormal level of an analyte measured in the blood An abnormal level of an analyte measured in the blood NOT_TRANSLATED -en nl HP:0032181 rdfs:label Anomalous hepatic venous drainage into the left atrium Anomalous hepatic venous drainage into the left atrium NOT_TRANSLATED -en nl HP:0032181 IAO:0000115 An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium NOT_TRANSLATED -en nl HP:0032182 rdfs:label Abnormal proportion of memory T cells Abnormal proportion of memory T cells NOT_TRANSLATED -en nl HP:0032182 IAO:0000115 An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response NOT_TRANSLATED -en nl HP:0032183 rdfs:label Decreased proportion of memory T cells Decreased proportion of memory T cells NOT_TRANSLATED -en nl HP:0032183 IAO:0000115 An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood NOT_TRANSLATED -en nl HP:0032184 rdfs:label Increased proportion of memory T cells Increased proportion of memory T cells NOT_TRANSLATED -en nl HP:0032184 IAO:0000115 An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood NOT_TRANSLATED -en nl HP:0032185 rdfs:label Disseminated molluscum contagiosum Disseminated molluscum contagiosum NOT_TRANSLATED -en nl HP:0032185 IAO:0000115 The presense of molluscum contagiosum lesions across multiple areas of the body The presense of molluscum contagiosum lesions across multiple areas of the body NOT_TRANSLATED -en nl HP:0032186 rdfs:label Anal neoplasm Anal neoplasm NOT_TRANSLATED -en nl HP:0032186 IAO:0000115 A benign or malignant neoplasm that affects the anal canal or anal margin A benign or malignant neoplasm that affects the anal canal or anal margin NOT_TRANSLATED -en nl HP:0032187 rdfs:label Anal intraepithelial neoplasia Anal intraepithelial neoplasia NOT_TRANSLATED -en nl HP:0032187 IAO:0000115 Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer NOT_TRANSLATED -en nl HP:0032188 rdfs:label Cellular hypersensitivity to mitomycin C Cellular hypersensitivity to mitomycin C NOT_TRANSLATED -en nl HP:0032188 IAO:0000115 An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle NOT_TRANSLATED -en nl HP:0032189 rdfs:label Cellular hypersensitivity to diepoxybutane Cellular hypersensitivity to diepoxybutane NOT_TRANSLATED -en nl HP:0032189 IAO:0000115 An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle NOT_TRANSLATED -en nl HP:0032190 rdfs:label Abnormal meniscus morphology Abnormal meniscus morphology NOT_TRANSLATED -en nl HP:0032190 IAO:0000115 Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement NOT_TRANSLATED -en nl HP:0032191 rdfs:label Torn meniscus Torn meniscus NOT_TRANSLATED -en nl HP:0032191 IAO:0000115 A tear in the cartilaginous pad (meniscus) of the knee A tear in the cartilaginous pad (meniscus) of the knee NOT_TRANSLATED -en nl HP:0032192 rdfs:label Hydatidiform mole Hydatidiform mole NOT_TRANSLATED -en nl HP:0032192 IAO:0000115 Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast NOT_TRANSLATED -en nl HP:0032193 rdfs:label Decreased low-density lipoprotein particle size Decreased low-density lipoprotein particle size NOT_TRANSLATED -en nl HP:0032193 IAO:0000115 An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation NOT_TRANSLATED -en nl HP:0032195 rdfs:label Abnormal S wave Abnormal S wave NOT_TRANSLATED -en nl HP:0032195 IAO:0000115 Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart NOT_TRANSLATED -en nl HP:0032196 rdfs:label Prominent S wave in lead I Prominent S wave in lead I NOT_TRANSLATED -en nl HP:0032196 IAO:0000115 Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram NOT_TRANSLATED -en nl HP:0032197 rdfs:label Deep S wave in lead V5 Deep S wave in lead V5 NOT_TRANSLATED -en nl HP:0032197 IAO:0000115 Abnormal depth of the S wave in lead V5 of the electrocardiogram Abnormal depth of the S wave in lead V5 of the electrocardiogram NOT_TRANSLATED -en nl HP:0032198 rdfs:label Decreased prothrombin time Decreased prothrombin time NOT_TRANSLATED -en nl HP:0032198 IAO:0000115 Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT NOT_TRANSLATED -en nl HP:0032199 rdfs:label Abnormal prothrombin time Abnormal prothrombin time NOT_TRANSLATED -en nl HP:0032199 IAO:0000115 Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT NOT_TRANSLATED -en nl HP:0032200 rdfs:label Perivascular fibrosis Perivascular fibrosis NOT_TRANSLATED -en nl HP:0032200 IAO:0000115 The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern NOT_TRANSLATED -en nl HP:0032201 rdfs:label Rotator cuff tear Rotator cuff tear NOT_TRANSLATED -en nl HP:0032201 IAO:0000115 The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus NOT_TRANSLATED -en nl HP:0032202 rdfs:label Vulvar intraepithelial neoplasia Vulvar intraepithelial neoplasia NOT_TRANSLATED -en nl HP:0032202 IAO:0000115 Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC NOT_TRANSLATED -en nl HP:0032203 rdfs:label Lymphoid nodular hyperplasia Lymphoid nodular hyperplasia NOT_TRANSLATED -en nl HP:0032203 IAO:0000115 Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236) Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236) NOT_TRANSLATED -en nl HP:0032204 rdfs:label Chronic active Epstein-Barr virus infection Chronic active Epstein-Barr virus infection NOT_TRANSLATED -en nl HP:0032204 IAO:0000115 Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed NOT_TRANSLATED -en nl HP:0032205 rdfs:label Increased circulating galectin-3 level Increased circulating galectin-3 level NOT_TRANSLATED -en nl HP:0032205 IAO:0000115 An increased circulation of galectin-3 in the blood circulation An increased circulation of galectin-3 in the blood circulation NOT_TRANSLATED -en nl HP:0032208 rdfs:label Increased urinary type 1 collagen N-terminal telopeptide level Increased urinary type 1 collagen N-terminal telopeptide level NOT_TRANSLATED -en nl HP:0032208 IAO:0000115 An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours NOT_TRANSLATED -en nl HP:0032209 rdfs:label Abnormal circulating free T3 concentration Abnormal circulating free T3 concentration NOT_TRANSLATED -en nl HP:0032209 IAO:0000115 A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3 A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3 NOT_TRANSLATED -en nl HP:0032210 rdfs:label Decreased circulating free T3 Decreased circulating free T3 NOT_TRANSLATED -en nl HP:0032210 IAO:0000115 A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation NOT_TRANSLATED -en nl HP:0032211 rdfs:label Increased urinary epithelial cell count Increased urinary epithelial cell count NOT_TRANSLATED -en nl HP:0032211 IAO:0000115 An increased number of epithelial cells per high-power field in urinanalysis An increased number of epithelial cells per high-power field in urinanalysis NOT_TRANSLATED -en nl HP:0032212 rdfs:label Increased urinary squamous epithelial cell count Increased urinary squamous epithelial cell count NOT_TRANSLATED -en nl HP:0032212 IAO:0000115 An increased number of squamous epithelial cells per high-power field in urinanalysis An increased number of squamous epithelial cells per high-power field in urinanalysis NOT_TRANSLATED -en nl HP:0032213 rdfs:label Increased urinary renal tubular epithelial cell count Increased urinary renal tubular epithelial cell count NOT_TRANSLATED -en nl HP:0032213 IAO:0000115 An increased number of renal tubular epithelial cells per high-power field in urinanalysis An increased number of renal tubular epithelial cells per high-power field in urinanalysis NOT_TRANSLATED -en nl HP:0032214 rdfs:label Increased urinary transitional epithelial cell count Increased urinary transitional epithelial cell count NOT_TRANSLATED -en nl HP:0032214 IAO:0000115 An increased number of transitional epithelial cells per high-power field in urinanalysis An increased number of transitional epithelial cells per high-power field in urinanalysis NOT_TRANSLATED -en nl HP:0032215 rdfs:label Disseminated cutaneous warts Disseminated cutaneous warts NOT_TRANSLATED -en nl HP:0032215 IAO:0000115 Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities NOT_TRANSLATED -en nl HP:0032216 rdfs:label Lymphocytic infiltration of the colorectal mucosa Lymphocytic infiltration of the colorectal mucosa NOT_TRANSLATED -en nl HP:0032216 IAO:0000115 Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy NOT_TRANSLATED -en nl HP:0032217 rdfs:label Indurated nodule Indurated nodule NOT_TRANSLATED -en nl HP:0032217 IAO:0000115 A skin nodule that is unusually hard (indurated) A skin nodule that is unusually hard (indurated) NOT_TRANSLATED -en nl HP:0032218 rdfs:label Decreased proportion of CD4-positive T cells Decreased proportion of CD4-positive T cells NOT_TRANSLATED -en nl HP:0032218 IAO:0000115 A reduction in the proportion of CD4-positive T cells relative to the total number of T cells A reduction in the proportion of CD4-positive T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0032219 rdfs:label Increased proportion of CD4-positive T cells Increased proportion of CD4-positive T cells NOT_TRANSLATED -en nl HP:0032219 IAO:0000115 An elevation in the proportion of CD4-positive T cells relative to the total number of T cells An elevation in the proportion of CD4-positive T cells relative to the total number of T cells NOT_TRANSLATED -en nl HP:0032220 rdfs:label Interface hepatitis Interface hepatitis NOT_TRANSLATED -en nl HP:0032220 IAO:0000115 Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma NOT_TRANSLATED -en nl HP:0032221 rdfs:label Periportal emperipolesis Periportal emperipolesis NOT_TRANSLATED -en nl HP:0032221 IAO:0000115 The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area NOT_TRANSLATED -en nl HP:0032222 rdfs:label Serrated intestinal polyps Serrated intestinal polyps NOT_TRANSLATED -en nl HP:0032222 IAO:0000115 The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification NOT_TRANSLATED -en nl HP:0032223 rdfs:label Blood group Blood group NOT_TRANSLATED -en nl HP:0032223 IAO:0000115 Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems NOT_TRANSLATED -en nl HP:0032224 rdfs:label ABO blood group ABO blood group NOT_TRANSLATED -en nl HP:0032224 IAO:0000115 The ABO system consists of A and B antigens and antibodies against these antigens The ABO system consists of A and B antigens and antibodies against these antigens NOT_TRANSLATED -en nl HP:0032225 rdfs:label Perifollicular fibroma Perifollicular fibroma NOT_TRANSLATED -en nl HP:0032225 IAO:0000115 Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle NOT_TRANSLATED -en nl HP:0032226 rdfs:label Abnormal sebaceous gland morphology Abnormal sebaceous gland morphology NOT_TRANSLATED -en nl HP:0032226 IAO:0000115 Any structural anomaly of the sebaceous glands Any structural anomaly of the sebaceous glands NOT_TRANSLATED -en nl HP:0032227 rdfs:label Sebaceous hyperplasia Sebaceous hyperplasia NOT_TRANSLATED -en nl HP:0032227 IAO:0000115 A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola NOT_TRANSLATED -en nl HP:0032228 rdfs:label Trichodiscoma Trichodiscoma NOT_TRANSLATED -en nl HP:0032228 IAO:0000115 A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion NOT_TRANSLATED -en nl HP:0032229 rdfs:label Perinuclear antineutrophil antibody positivity Perinuclear antineutrophil antibody positivity NOT_TRANSLATED -en nl HP:0032229 IAO:0000115 The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils NOT_TRANSLATED -en nl HP:0032230 rdfs:label Cytoplasmic antineutrophil antibody positivity Cytoplasmic antineutrophil antibody positivity NOT_TRANSLATED -en nl HP:0032230 IAO:0000115 The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils NOT_TRANSLATED -en nl HP:0032231 rdfs:label Hypochromia Hypochromia NOT_TRANSLATED -en nl HP:0032231 IAO:0000115 A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells NOT_TRANSLATED -en nl HP:0032232 rdfs:label Increased circulating creatine kinase MB isoform Increased circulating creatine kinase MB isoform NOT_TRANSLATED -en nl HP:0032232 IAO:0000115 An increased concentration of the MB isoform of creatine kinase in the blood circulation An increased concentration of the MB isoform of creatine kinase in the blood circulation NOT_TRANSLATED -en nl HP:0032233 rdfs:label Increased circulating creatine kinase BB isoform Increased circulating creatine kinase BB isoform NOT_TRANSLATED -en nl HP:0032233 IAO:0000115 An increased concentration of the BB isoform of creatine kinase in the blood circulation An increased concentration of the BB isoform of creatine kinase in the blood circulation NOT_TRANSLATED -en nl HP:0032234 rdfs:label Increased circulating creatine kinase MM isoform Increased circulating creatine kinase MM isoform NOT_TRANSLATED -en nl HP:0032234 IAO:0000115 An increased concentration of the MM isoform of creatine kinase in the blood circulation An increased concentration of the MM isoform of creatine kinase in the blood circulation NOT_TRANSLATED -en nl HP:0032235 rdfs:label Anti-La/SS-B antibody positivity Anti-La/SS-B antibody positivity NOT_TRANSLATED -en nl HP:0032235 IAO:0000115 The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens NOT_TRANSLATED -en nl HP:0032236 rdfs:label Increased circulating immature neutrophil count Increased circulating immature neutrophil count NOT_TRANSLATED -en nl HP:0032236 IAO:0000115 An abnormally increased number of immature neutrophils in the peripheral blood circulation An abnormally increased number of immature neutrophils in the peripheral blood circulation NOT_TRANSLATED -en nl HP:0032237 rdfs:label Increased circulating myelocyte count Increased circulating myelocyte count NOT_TRANSLATED -en nl HP:0032237 IAO:0000115 An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 NOT_TRANSLATED -en nl HP:0032238 rdfs:label Increased circulating metamyelocyte count Increased circulating metamyelocyte count NOT_TRANSLATED -en nl HP:0032238 IAO:0000115 An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 NOT_TRANSLATED -en nl HP:0032239 rdfs:label Increased circulating band cell count Increased circulating band cell count NOT_TRANSLATED -en nl HP:0032239 IAO:0000115 An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 NOT_TRANSLATED -en nl HP:0032240 rdfs:label Elevated circulating E selectin level Elevated circulating E selectin level NOT_TRANSLATED -en nl HP:0032240 IAO:0000115 An increased concentration of E selectin in the blood circulation An increased concentration of E selectin in the blood circulation NOT_TRANSLATED -en nl HP:0032241 rdfs:label Cervical neoplasm Cervical neoplasm NOT_TRANSLATED -en nl HP:0032241 IAO:0000115 A tumor (abnormal growth of tissue) of the uterine cervix A tumor (abnormal growth of tissue) of the uterine cervix NOT_TRANSLATED -en nl HP:0032242 rdfs:label Cervical intraepithelial neoplasia Cervical intraepithelial neoplasia NOT_TRANSLATED -en nl HP:0032242 IAO:0000115 A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer NOT_TRANSLATED -en nl HP:0032243 rdfs:label Abnormal tissue metabolite concentration Abnormal tissue metabolite concentration NOT_TRANSLATED -en nl HP:0032243 IAO:0000115 Any deviation from the normal concentration of a metabolite in a tissue Any deviation from the normal concentration of a metabolite in a tissue NOT_TRANSLATED -en nl HP:0032244 rdfs:label Decreased serum thromboxane B2 Decreased serum thromboxane B2 NOT_TRANSLATED -en nl HP:0032244 IAO:0000115 A reduction in the concentration of thromboxane B2 in the blood circulation A reduction in the concentration of thromboxane B2 in the blood circulation NOT_TRANSLATED -en nl HP:0032245 rdfs:label Abnormal metabolism Abnormal metabolism NOT_TRANSLATED -en nl HP:0032245 IAO:0000115 An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products NOT_TRANSLATED -en nl HP:0032247 rdfs:label Persistent CMV viremia Persistent CMV viremia NOT_TRANSLATED -en nl HP:0032247 IAO:0000115 Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation NOT_TRANSLATED -en nl HP:0032248 rdfs:label Persistent viremia Persistent viremia NOT_TRANSLATED -en nl HP:0032248 IAO:0000115 Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host NOT_TRANSLATED -en nl HP:0032249 rdfs:label Coccidioidomycosis Coccidioidomycosis NOT_TRANSLATED -en nl HP:0032249 IAO:0000115 Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii NOT_TRANSLATED -en nl HP:0032250 rdfs:label Acinetobacter infection Acinetobacter infection NOT_TRANSLATED -en nl HP:0032250 IAO:0000115 An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay NOT_TRANSLATED -en nl HP:0032251 rdfs:label Abnormal immune system morphology Abnormal immune system morphology NOT_TRANSLATED -en nl HP:0032252 rdfs:label Granuloma Granuloma NOT_TRANSLATED -en nl HP:0032252 IAO:0000115 A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis NOT_TRANSLATED -en nl HP:0032253 rdfs:label Eosinophilic granuloma Eosinophilic granuloma NOT_TRANSLATED -en nl HP:0032253 IAO:0000115 A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris NOT_TRANSLATED -en nl HP:0032254 rdfs:label Increased circulating copper concentration Increased circulating copper concentration NOT_TRANSLATED -en nl HP:0032254 IAO:0000115 An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration NOT_TRANSLATED -en nl HP:0032255 rdfs:label Opportunistic fungal infection Opportunistic fungal infection NOT_TRANSLATED -en nl HP:0032255 IAO:0000115 An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system NOT_TRANSLATED -en nl HP:0032256 rdfs:label Histoplasmosis Histoplasmosis NOT_TRANSLATED -en nl HP:0032256 IAO:0000115 Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons NOT_TRANSLATED -en nl HP:0032257 rdfs:label Disseminated histoplasmosis Disseminated histoplasmosis NOT_TRANSLATED -en nl HP:0032257 IAO:0000115 Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS NOT_TRANSLATED -en nl HP:0032258 rdfs:label Pulmonary histoplasmosis Pulmonary histoplasmosis NOT_TRANSLATED -en nl HP:0032258 IAO:0000115 Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum NOT_TRANSLATED -en nl HP:0032259 rdfs:label Chronic tinea infection Chronic tinea infection NOT_TRANSLATED -en nl HP:0032259 IAO:0000115 The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect NOT_TRANSLATED -en nl HP:0032260 rdfs:label Opportunistic bacterial infection Opportunistic bacterial infection NOT_TRANSLATED -en nl HP:0032260 IAO:0000115 An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system NOT_TRANSLATED -en nl HP:0032261 rdfs:label Nontuberculous mycobacterial pulmonary infection Nontuberculous mycobacterial pulmonary infection NOT_TRANSLATED -en nl HP:0032261 IAO:0000115 An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease NOT_TRANSLATED -en nl HP:0032262 rdfs:label Pulmonary tuberculosis Pulmonary tuberculosis NOT_TRANSLATED -en nl HP:0032262 IAO:0000115 A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria NOT_TRANSLATED -en nl HP:0032263 rdfs:label Increased blood pressure Increased blood pressure NOT_TRANSLATED -en nl HP:0032263 IAO:0000115 Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension NOT_TRANSLATED -en nl HP:0032264 rdfs:label Anti-NMDA receptor antibody positivity Anti-NMDA receptor antibody positivity NOT_TRANSLATED -en nl HP:0032264 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor NOT_TRANSLATED -en nl HP:0032265 rdfs:label CSF autoimmune antibody positivity CSF autoimmune antibody positivity NOT_TRANSLATED -en nl HP:0032265 IAO:0000115 The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues NOT_TRANSLATED -en nl HP:0032266 rdfs:label CSF anti-NMDA receptor antibody positivity CSF anti-NMDA receptor antibody positivity NOT_TRANSLATED -en nl HP:0032266 IAO:0000115 The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor NOT_TRANSLATED -en nl HP:0032267 rdfs:label Empty delta sign Empty delta sign NOT_TRANSLATED -en nl HP:0032267 IAO:0000115 This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases NOT_TRANSLATED -en nl HP:0032268 rdfs:label Dural tail sign Dural tail sign NOT_TRANSLATED -en nl HP:0032268 IAO:0000115 This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor NOT_TRANSLATED -en nl HP:0032269 rdfs:label Lemon sign Lemon sign NOT_TRANSLATED -en nl HP:0032269 IAO:0000115 The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles NOT_TRANSLATED -en nl HP:0032270 rdfs:label Optic nerve tram-track sign Optic nerve tram-track sign NOT_TRANSLATED -en nl HP:0032270 IAO:0000115 A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common NOT_TRANSLATED -en nl HP:0032271 rdfs:label Extrapulmonary tuberculosis Extrapulmonary tuberculosis NOT_TRANSLATED -en nl HP:0032271 IAO:0000115 A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB NOT_TRANSLATED -en nl HP:0032272 rdfs:label Elevated urinary N-acetylaspartic acid level Elevated urinary N-acetylaspartic acid level NOT_TRANSLATED -en nl HP:0032272 IAO:0000115 Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry NOT_TRANSLATED -en nl HP:0032273 rdfs:label Increased circulating N-Acetylaspartic acid concentration Increased circulating N-Acetylaspartic acid concentration NOT_TRANSLATED -en nl HP:0032273 IAO:0000115 An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation NOT_TRANSLATED -en nl HP:0032274 rdfs:label Increased CSF N-acetylaspartic acid concentration Increased CSF N-acetylaspartic acid concentration NOT_TRANSLATED -en nl HP:0032274 IAO:0000115 An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF) An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0032275 rdfs:label Recurrent shingles Recurrent shingles NOT_TRANSLATED -en nl HP:0032275 IAO:0000115 Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes NOT_TRANSLATED -en nl HP:0032276 rdfs:label Prominent subcalcaneal fat pad Prominent subcalcaneal fat pad NOT_TRANSLATED -en nl HP:0032276 IAO:0000115 Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062 Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062 NOT_TRANSLATED -en nl HP:0032277 rdfs:label Lozenge-shaped umbilicus Lozenge-shaped umbilicus NOT_TRANSLATED -en nl HP:0032278 rdfs:label 2-hydroxyglutarate aciduria 2-hydroxyglutarate aciduria NOT_TRANSLATED -en nl HP:0032278 IAO:0000115 An increase in the level of 2-hydroxyglutaric acid in the urine An increase in the level of 2-hydroxyglutaric acid in the urine NOT_TRANSLATED -en nl HP:0032281 rdfs:label Abnormal base excess Abnormal base excess NOT_TRANSLATED -en nl HP:0032281 IAO:0000115 Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C) Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C) NOT_TRANSLATED -en nl HP:0032282 rdfs:label Contact dermatitis Contact dermatitis NOT_TRANSLATED -en nl HP:0032282 IAO:0000115 An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis NOT_TRANSLATED -en nl HP:0032283 rdfs:label Disseminated nontuberculous mycobacterial infection Disseminated nontuberculous mycobacterial infection NOT_TRANSLATED -en nl HP:0032283 IAO:0000115 An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease NOT_TRANSLATED -en nl HP:0032284 rdfs:label Ultra-low vision with retained motion projection Ultra-low vision with retained motion projection NOT_TRANSLATED -en nl HP:0032284 IAO:0000115 Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm) Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm) NOT_TRANSLATED -en nl HP:0032285 rdfs:label Ultra-low vision with retained light projection Ultra-low vision with retained light projection NOT_TRANSLATED -en nl HP:0032285 IAO:0000115 Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus NOT_TRANSLATED -en nl HP:0032286 rdfs:label Ultra-low vision with retained light perception Ultra-low vision with retained light perception NOT_TRANSLATED -en nl HP:0032286 IAO:0000115 Ultra-low vision but with retained ability to perceive the difference between light and dark Ultra-low vision but with retained ability to perceive the difference between light and dark NOT_TRANSLATED -en nl HP:0032287 rdfs:label Ultra-low vision with no light perception Ultra-low vision with no light perception NOT_TRANSLATED -en nl HP:0032287 IAO:0000115 Ultra-low vision with complete lack of light and form perception Ultra-low vision with complete lack of light and form perception NOT_TRANSLATED -en nl HP:0032288 rdfs:label Polyclonal elevation of circulating IgG Polyclonal elevation of circulating IgG NOT_TRANSLATED -en nl HP:0032288 IAO:0000115 An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains NOT_TRANSLATED -en nl HP:0032289 rdfs:label Oligoclonal elevation of circulating IgG Oligoclonal elevation of circulating IgG NOT_TRANSLATED -en nl HP:0032289 IAO:0000115 An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED -en nl HP:0032290 rdfs:label Monoclonal elevation of IgG Monoclonal elevation of IgG NOT_TRANSLATED -en nl HP:0032290 IAO:0000115 An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED -en nl HP:0032291 rdfs:label Monoclonal elevation of intact IgG Monoclonal elevation of intact IgG NOT_TRANSLATED -en nl HP:0032291 IAO:0000115 A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain NOT_TRANSLATED -en nl HP:0032292 rdfs:label Monoclonal elevation of IgG light chain Monoclonal elevation of IgG light chain NOT_TRANSLATED -en nl HP:0032292 IAO:0000115 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain NOT_TRANSLATED -en nl HP:0032293 rdfs:label Monoclonal elevation of IgG heavy chain Monoclonal elevation of IgG heavy chain NOT_TRANSLATED -en nl HP:0032293 IAO:0000115 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain NOT_TRANSLATED -en nl HP:0032294 rdfs:label Monoclonal elevation of IgG kappa chain Monoclonal elevation of IgG kappa chain NOT_TRANSLATED -en nl HP:0032294 IAO:0000115 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain NOT_TRANSLATED -en nl HP:0032295 rdfs:label Monoclonal elevation of IgG lambda chain Monoclonal elevation of IgG lambda chain NOT_TRANSLATED -en nl HP:0032295 IAO:0000115 A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain NOT_TRANSLATED -en nl HP:0032296 rdfs:label Increased circulating IgG subclass Increased circulating IgG subclass NOT_TRANSLATED -en nl HP:0032296 IAO:0000115 An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses NOT_TRANSLATED -en nl HP:0032297 rdfs:label Increased circulating IgG3 level Increased circulating IgG3 level NOT_TRANSLATED -en nl HP:0032297 IAO:0000115 An abnormally increased concentration of the IgG3 subtype in the blood circulation An abnormally increased concentration of the IgG3 subtype in the blood circulation NOT_TRANSLATED -en nl HP:0032298 rdfs:label Increased circulating IgG1 level Increased circulating IgG1 level NOT_TRANSLATED -en nl HP:0032298 IAO:0000115 An abnormally increased concentration of the IgG1 subtype in the blood circulation An abnormally increased concentration of the IgG1 subtype in the blood circulation NOT_TRANSLATED -en nl HP:0032299 rdfs:label Increased circulating IgG2 level Increased circulating IgG2 level NOT_TRANSLATED -en nl HP:0032299 IAO:0000115 An abnormally increased concentration of the IgG2 subtype in the blood circulation An abnormally increased concentration of the IgG2 subtype in the blood circulation NOT_TRANSLATED -en nl HP:0032300 rdfs:label Increased circulating IgG4 level Increased circulating IgG4 level NOT_TRANSLATED -en nl HP:0032300 IAO:0000115 An abnormally increased concentration of the IgG4 subtype in the blood circulation An abnormally increased concentration of the IgG4 subtype in the blood circulation NOT_TRANSLATED -en nl HP:0032301 rdfs:label Genital warts Genital warts NOT_TRANSLATED -en nl HP:0032301 IAO:0000115 Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress NOT_TRANSLATED -en nl HP:0032302 rdfs:label Kappa Bence Jones proteinuria Kappa Bence Jones proteinuria NOT_TRANSLATED -en nl HP:0032302 IAO:0000115 The presence of free monoclonal kappa immunoglobulin light chains in the urine The presence of free monoclonal kappa immunoglobulin light chains in the urine NOT_TRANSLATED -en nl HP:0032303 rdfs:label Lambda Bence Jones proteinuria Lambda Bence Jones proteinuria NOT_TRANSLATED -en nl HP:0032303 IAO:0000115 The presence of free monoclonal lambda immunoglobulin light chains in the urine The presence of free monoclonal lambda immunoglobulin light chains in the urine NOT_TRANSLATED -en nl HP:0032304 rdfs:label Abnormal mannose-binding protein level Abnormal mannose-binding protein level NOT_TRANSLATED -en nl HP:0032304 IAO:0000115 Any deviation from the normal concentration of mannose-binding protein in the blood circulation Any deviation from the normal concentration of mannose-binding protein in the blood circulation NOT_TRANSLATED -en nl HP:0032305 rdfs:label Decreased mannose-binding protein level Decreased mannose-binding protein level NOT_TRANSLATED -en nl HP:0032305 IAO:0000115 An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation NOT_TRANSLATED -en nl HP:0032306 rdfs:label Increased mannose-binding protein level Increased mannose-binding protein level NOT_TRANSLATED -en nl HP:0032306 IAO:0000115 An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation NOT_TRANSLATED -en nl HP:0032308 rdfs:label Increased circulating procalcitonin concentration Increased circulating procalcitonin concentration NOT_TRANSLATED -en nl HP:0032308 IAO:0000115 An elevated concentration of procalcitonin in the blood circulation An elevated concentration of procalcitonin in the blood circulation NOT_TRANSLATED -en nl HP:0032309 rdfs:label Abnormal granulocyte count Abnormal granulocyte count NOT_TRANSLATED -en nl HP:0032309 IAO:0000115 Any deviation from the normal cell count per volume of granulocytes in the blood circulation Any deviation from the normal cell count per volume of granulocytes in the blood circulation NOT_TRANSLATED -en nl HP:0032310 rdfs:label Granulocytosis Granulocytosis NOT_TRANSLATED -en nl HP:0032310 IAO:0000115 An increased count of granulocytes in the peripheral blood circulation An increased count of granulocytes in the peripheral blood circulation NOT_TRANSLATED -en nl HP:0032311 rdfs:label Increased circulating globulin level Increased circulating globulin level NOT_TRANSLATED -en nl HP:0032311 IAO:0000115 An abnormally elevated concentration of globulins in the blood An abnormally elevated concentration of globulins in the blood NOT_TRANSLATED -en nl HP:0032312 rdfs:label Decreased circulating globulin level Decreased circulating globulin level NOT_TRANSLATED -en nl HP:0032312 IAO:0000115 An abnormally reduced concentration of globulins in the blood An abnormally reduced concentration of globulins in the blood NOT_TRANSLATED -en nl HP:0032313 rdfs:label Frontotemporal hypertrichosis Frontotemporal hypertrichosis NOT_TRANSLATED -en nl HP:0032313 IAO:0000115 Excessive, increased hair growth located in the region of the forehead and temple Excessive, increased hair growth located in the region of the forehead and temple NOT_TRANSLATED -en nl HP:0032314 rdfs:label Abnormal areolar morphology Abnormal areolar morphology NOT_TRANSLATED -en nl HP:0032314 IAO:0000115 An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple NOT_TRANSLATED -en nl HP:0032315 rdfs:label Areolar fullness Areolar fullness NOT_TRANSLATED -en nl HP:0032315 IAO:0000115 The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape NOT_TRANSLATED -en nl HP:0032316 rdfs:label Family history Family history NOT_TRANSLATED -en nl HP:0032316 IAO:0000115 Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins NOT_TRANSLATED -en nl HP:0032317 rdfs:label Family history of cancer Family history of cancer NOT_TRANSLATED -en nl HP:0032317 IAO:0000115 A close blood relative had cancer A close blood relative had cancer NOT_TRANSLATED -en nl HP:0032318 rdfs:label Family history of heart disease Family history of heart disease NOT_TRANSLATED -en nl HP:0032318 IAO:0000115 A close blood relative had heart disease A close blood relative had heart disease NOT_TRANSLATED -en nl HP:0032319 rdfs:label Health status Health status NOT_TRANSLATED -en nl HP:0032319 IAO:0000115 Health status of a family member with respect to the disease being investigated in a proband Health status of a family member with respect to the disease being investigated in a proband NOT_TRANSLATED -en nl HP:0032320 rdfs:label Affected Affected NOT_TRANSLATED -en nl HP:0032320 IAO:0000115 This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband) This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband) NOT_TRANSLATED -en nl HP:0032321 rdfs:label Unaffected Unaffected NOT_TRANSLATED -en nl HP:0032321 IAO:0000115 This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded NOT_TRANSLATED -en nl HP:0032322 rdfs:label Healthy Healthy NOT_TRANSLATED -en nl HP:0032322 IAO:0000115 No history of any serious disease, including the disease being investigated in the proband No history of any serious disease, including the disease being investigated in the proband NOT_TRANSLATED -en nl HP:0032323 rdfs:label Periodic fever Periodic fever NOT_TRANSLATED -en nl HP:0032323 IAO:0000115 Episodic fever that recurs at regular intervals Episodic fever that recurs at regular intervals NOT_TRANSLATED -en nl HP:0032324 rdfs:label Non-periodic recurrent fever Non-periodic recurrent fever NOT_TRANSLATED -en nl HP:0032324 IAO:0000115 Episodic fever that recurs at irregular intervals Episodic fever that recurs at irregular intervals NOT_TRANSLATED -en nl HP:0032325 rdfs:label Lacunar stroke Lacunar stroke NOT_TRANSLATED -en nl HP:0032325 IAO:0000115 A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain NOT_TRANSLATED -en nl HP:0032326 rdfs:label Methicillin-resistant Staphylococcus aureus infection Methicillin-resistant Staphylococcus aureus infection NOT_TRANSLATED -en nl HP:0032326 IAO:0000115 Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection NOT_TRANSLATED -en nl HP:0032327 rdfs:label Interhemispheric cyst Interhemispheric cyst NOT_TRANSLATED -en nl HP:0032327 IAO:0000115 Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system NOT_TRANSLATED -en nl HP:0032328 rdfs:label Temporomandibular joint adhesion Temporomandibular joint adhesion NOT_TRANSLATED -en nl HP:0032328 IAO:0000115 Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ NOT_TRANSLATED -en nl HP:0032329 rdfs:label Increased urinary 11-deoxycortisol level Increased urinary 11-deoxycortisol level NOT_TRANSLATED -en nl HP:0032329 IAO:0000115 An abnormally elevated concentration of 11-deoxycortisol in the urine An abnormally elevated concentration of 11-deoxycortisol in the urine NOT_TRANSLATED -en nl HP:0032330 rdfs:label Increased urinary 11-deoxycorticosterone level Increased urinary 11-deoxycorticosterone level NOT_TRANSLATED -en nl HP:0032330 IAO:0000115 An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine NOT_TRANSLATED -en nl HP:0032331 rdfs:label Increased urinary 11-deoxytetrahydrocorticosterone level Increased urinary 11-deoxytetrahydrocorticosterone level NOT_TRANSLATED -en nl HP:0032331 IAO:0000115 An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine NOT_TRANSLATED -en nl HP:0032332 rdfs:label Oligoclonal elevation of circulating IgM Oligoclonal elevation of circulating IgM NOT_TRANSLATED -en nl HP:0032332 IAO:0000115 An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase NOT_TRANSLATED -en nl HP:0032333 rdfs:label Polyclonal elevation of circulating IgA Polyclonal elevation of circulating IgA NOT_TRANSLATED -en nl HP:0032333 IAO:0000115 A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis NOT_TRANSLATED -en nl HP:0032334 rdfs:label Oligoclonal elevation of circulating IgA Oligoclonal elevation of circulating IgA NOT_TRANSLATED -en nl HP:0032334 IAO:0000115 An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED -en nl HP:0032335 rdfs:label Monoclonal elevation of circulating IgA Monoclonal elevation of circulating IgA NOT_TRANSLATED -en nl HP:0032335 IAO:0000115 An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED -en nl HP:0032336 rdfs:label Increased circulating specific IgE antibody Increased circulating specific IgE antibody NOT_TRANSLATED -en nl HP:0032337 rdfs:label Monoclonal elevation of circulating IgE Monoclonal elevation of circulating IgE NOT_TRANSLATED -en nl HP:0032337 IAO:0000115 An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED -en nl HP:0032338 rdfs:label Oligoclonal elevation of circulating IgE Oligoclonal elevation of circulating IgE NOT_TRANSLATED -en nl HP:0032338 IAO:0000115 An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED -en nl HP:0032339 rdfs:label Polyclonal elevation of circulating IgE Polyclonal elevation of circulating IgE NOT_TRANSLATED -en nl HP:0032339 IAO:0000115 A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis NOT_TRANSLATED -en nl HP:0032341 rdfs:label Reduced forced vital capacity Reduced forced vital capacity NOT_TRANSLATED -en nl HP:0032341 IAO:0000115 An abnormal reduction in the amount of air a person can expel following maximal inspiration An abnormal reduction in the amount of air a person can expel following maximal inspiration NOT_TRANSLATED -en nl HP:0032342 rdfs:label Reduced forced expiratory volume in one second Reduced forced expiratory volume in one second NOT_TRANSLATED -en nl HP:0032342 IAO:0000115 An abnormal reduction in the amount of air a person can forcefully expel in one second An abnormal reduction in the amount of air a person can forcefully expel in one second NOT_TRANSLATED -en nl HP:0032344 rdfs:label Upslanting toenail Upslanting toenail NOT_TRANSLATED -en nl HP:0032344 IAO:0000115 Upturned concavity of toenails Upturned concavity of toenails NOT_TRANSLATED -en nl HP:0032345 rdfs:label Elevated cancer Ag 19-9 level Elevated cancer Ag 19-9 level NOT_TRANSLATED -en nl HP:0032345 IAO:0000115 An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation NOT_TRANSLATED -en nl HP:0032346 rdfs:label Cutaneous lichen amyloidosis Cutaneous lichen amyloidosis NOT_TRANSLATED -en nl HP:0032346 IAO:0000115 Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs NOT_TRANSLATED -en nl HP:0032347 rdfs:label Cutaneous macular amyloidosis Cutaneous macular amyloidosis NOT_TRANSLATED -en nl HP:0032347 IAO:0000115 A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern NOT_TRANSLATED -en nl HP:0032348 rdfs:label Cutaneous nodular amyloidosis Cutaneous nodular amyloidosis NOT_TRANSLATED -en nl HP:0032348 IAO:0000115 A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue NOT_TRANSLATED -en nl HP:0032349 rdfs:label Serinuria Serinuria NOT_TRANSLATED -en nl HP:0032349 IAO:0000115 A increased concentration of serine in the urine A increased concentration of serine in the urine NOT_TRANSLATED -en nl HP:0032350 rdfs:label Sulfocysteinuria Sulfocysteinuria NOT_TRANSLATED -en nl HP:0032350 IAO:0000115 A increased concentration of sulfocysteine in the urine A increased concentration of sulfocysteine in the urine NOT_TRANSLATED -en nl HP:0032351 rdfs:label Phenylalaninuria Phenylalaninuria NOT_TRANSLATED -en nl HP:0032351 IAO:0000115 Increased level of phenylalanine in urine Increased level of phenylalanine in urine NOT_TRANSLATED -en nl HP:0032352 rdfs:label Methioninuria Methioninuria NOT_TRANSLATED -en nl HP:0032352 IAO:0000115 Increased level of methionine in urine Increased level of methionine in urine NOT_TRANSLATED -en nl HP:0032353 rdfs:label Leucinuria Leucinuria NOT_TRANSLATED -en nl HP:0032353 IAO:0000115 Increased level of leucine in urine Increased level of leucine in urine NOT_TRANSLATED -en nl HP:0032355 rdfs:label Decreased peak expiratory flow Decreased peak expiratory flow NOT_TRANSLATED -en nl HP:0032355 IAO:0000115 A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways NOT_TRANSLATED -en nl HP:0032356 rdfs:label Decreased pre-bronchodilator forced vital capacity Decreased pre-bronchodilator forced vital capacity NOT_TRANSLATED -en nl HP:0032356 IAO:0000115 An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication NOT_TRANSLATED -en nl HP:0032357 rdfs:label Decreased post-bronchodilator forced vital capacity Decreased post-bronchodilator forced vital capacity NOT_TRANSLATED -en nl HP:0032357 IAO:0000115 An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication NOT_TRANSLATED -en nl HP:0032358 rdfs:label Decreased post-bronchodilator forced expiratory volume in one second Decreased post-bronchodilator forced expiratory volume in one second NOT_TRANSLATED -en nl HP:0032358 IAO:0000115 An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication NOT_TRANSLATED -en nl HP:0032359 rdfs:label Decreased forced expiratory flow 25-75% Decreased forced expiratory flow 25-75% NOT_TRANSLATED -en nl HP:0032359 IAO:0000115 A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled NOT_TRANSLATED -en nl HP:0032360 rdfs:label Decreased pre-bronchodilator forced expiratory flow 25-75% Decreased pre-bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED -en nl HP:0032360 IAO:0000115 A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication NOT_TRANSLATED -en nl HP:0032361 rdfs:label Decreased post-bronchodilator forced expiratory flow 25-75% Decreased post-bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED -en nl HP:0032361 IAO:0000115 A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication NOT_TRANSLATED -en nl HP:0032362 rdfs:label Increased circulating corticosterone level Increased circulating corticosterone level NOT_TRANSLATED -en nl HP:0032362 IAO:0000115 An abnormally elevated concentration of corticosterone in the blood An abnormally elevated concentration of corticosterone in the blood NOT_TRANSLATED -en nl HP:0032363 rdfs:label Decreased circulating corticosterone level Decreased circulating corticosterone level NOT_TRANSLATED -en nl HP:0032363 IAO:0000115 An abnormally reduced concentration of corticosterone in the blood An abnormally reduced concentration of corticosterone in the blood NOT_TRANSLATED -en nl HP:0032365 rdfs:label Exacerbated by aspirin ingestion Exacerbated by aspirin ingestion NOT_TRANSLATED -en nl HP:0032365 IAO:0000115 Applied to a sign or symptom that is worsened by ingestion of aspirin Applied to a sign or symptom that is worsened by ingestion of aspirin NOT_TRANSLATED -en nl HP:0032366 rdfs:label Positive direct antiglobulin test Positive direct antiglobulin test NOT_TRANSLATED -en nl HP:0032366 IAO:0000115 A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction NOT_TRANSLATED -en nl HP:0032367 rdfs:label Abnormal growth hormone level Abnormal growth hormone level NOT_TRANSLATED -en nl HP:0032367 IAO:0000115 Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful NOT_TRANSLATED -en nl HP:0032368 rdfs:label Acidemia Acidemia NOT_TRANSLATED -en nl HP:0032368 IAO:0000115 An abnormally low blood pH (usually defined as less than 7.35) An abnormally low blood pH (usually defined as less than 7.35) NOT_TRANSLATED -en nl HP:0032369 rdfs:label Alkalemia Alkalemia NOT_TRANSLATED -en nl HP:0032369 IAO:0000115 An abnormally high blood pH (usually defined as 7.41 or above) An abnormally high blood pH (usually defined as 7.41 or above) NOT_TRANSLATED -en nl HP:0032370 rdfs:label Blood group A Blood group A NOT_TRANSLATED -en nl HP:0032370 IAO:0000115 ABO phenotype A, corresponding to the genotype AO or AA ABO phenotype A, corresponding to the genotype AO or AA NOT_TRANSLATED -en nl HP:0032371 rdfs:label Isoleucinuria Isoleucinuria NOT_TRANSLATED -en nl HP:0032371 IAO:0000115 An increased concentration of isoleucine in the urine An increased concentration of isoleucine in the urine NOT_TRANSLATED -en nl HP:0032372 rdfs:label Increased peripheral blast count Increased peripheral blast count NOT_TRANSLATED -en nl HP:0032372 IAO:0000115 An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications NOT_TRANSLATED -en nl HP:0032373 rdfs:label Duffy blood group Duffy blood group NOT_TRANSLATED -en nl HP:0032373 IAO:0000115 The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b- The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b- NOT_TRANSLATED -en nl HP:0032374 rdfs:label Duffy Fya positivity Duffy Fya positivity NOT_TRANSLATED -en nl HP:0032374 IAO:0000115 Presence of the Duffy Fya antigen Presence of the Duffy Fya antigen NOT_TRANSLATED -en nl HP:0032375 rdfs:label Duffy Fyb positivity Duffy Fyb positivity NOT_TRANSLATED -en nl HP:0032375 IAO:0000115 Presence of the Duffy Fyb antigen Presence of the Duffy Fyb antigen NOT_TRANSLATED -en nl HP:0032376 rdfs:label Anti-beta 2 glycoprotein I antibody positivity Anti-beta 2 glycoprotein I antibody positivity NOT_TRANSLATED -en nl HP:0032376 IAO:0000115 Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS) Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS) NOT_TRANSLATED -en nl HP:0032377 rdfs:label Increased urinary orosomucoid Increased urinary orosomucoid NOT_TRANSLATED -en nl HP:0032377 IAO:0000115 An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism NOT_TRANSLATED -en nl HP:0032378 rdfs:label Immediate-type hypersensitivity drug reaction Immediate-type hypersensitivity drug reaction NOT_TRANSLATED -en nl HP:0032378 IAO:0000115 Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement NOT_TRANSLATED -en nl HP:0032379 rdfs:label Polymorphous light eruption Polymorphous light eruption NOT_TRANSLATED -en nl HP:0032379 IAO:0000115 The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces NOT_TRANSLATED -en nl HP:0032381 rdfs:label Hydroa vacciniforme Hydroa vacciniforme NOT_TRANSLATED -en nl HP:0032381 IAO:0000115 In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation NOT_TRANSLATED -en nl HP:0032382 rdfs:label Uniparental disomy Uniparental disomy NOT_TRANSLATED -en nl HP:0032382 IAO:0000115 Inheritance of both homologues of a chromosome pair from the same parent Inheritance of both homologues of a chromosome pair from the same parent NOT_TRANSLATED -en nl HP:0032383 rdfs:label Uniparental heterodisomy Uniparental heterodisomy NOT_TRANSLATED -en nl HP:0032383 IAO:0000115 A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted NOT_TRANSLATED -en nl HP:0032384 rdfs:label Uniparental isodisomy Uniparental isodisomy NOT_TRANSLATED -en nl HP:0032384 IAO:0000115 A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted NOT_TRANSLATED -en nl HP:0032385 rdfs:label Abnormal circulating transferrin concentration Abnormal circulating transferrin concentration NOT_TRANSLATED -en nl HP:0032385 IAO:0000115 Any deviation from the normal concentration of transferrin in the blood circulation Any deviation from the normal concentration of transferrin in the blood circulation NOT_TRANSLATED -en nl HP:0032386 rdfs:label Elevated circulating transferrin concentration Elevated circulating transferrin concentration NOT_TRANSLATED -en nl HP:0032386 IAO:0000115 An abnormally increased concentration of transferrin in the blood circulation An abnormally increased concentration of transferrin in the blood circulation NOT_TRANSLATED -en nl HP:0032387 rdfs:label Reduced circulating transferrin concentration Reduced circulating transferrin concentration NOT_TRANSLATED -en nl HP:0032387 IAO:0000115 An abnormally decreased concentration of transferrin in the blood circulation An abnormally decreased concentration of transferrin in the blood circulation NOT_TRANSLATED -en nl HP:0032388 rdfs:label Periventricular nodular heterotopia Periventricular nodular heterotopia NOT_TRANSLATED -en nl HP:0032388 IAO:0000115 Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple NOT_TRANSLATED -en nl HP:0032389 rdfs:label Periventricular laminar heterotopia Periventricular laminar heterotopia NOT_TRANSLATED -en nl HP:0032389 IAO:0000115 A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral NOT_TRANSLATED -en nl HP:0032390 rdfs:label Periventricular ribbonlike heterotopia Periventricular ribbonlike heterotopia NOT_TRANSLATED -en nl HP:0032390 IAO:0000115 Heterotopia that forms a continuous wavy line along the ventricular wall Heterotopia that forms a continuous wavy line along the ventricular wall NOT_TRANSLATED -en nl HP:0032391 rdfs:label Subcortical heterotopia Subcortical heterotopia NOT_TRANSLATED -en nl HP:0032391 IAO:0000115 A form of heterotopia were the mislocalized gray matter is located deep within the white matter A form of heterotopia were the mislocalized gray matter is located deep within the white matter NOT_TRANSLATED -en nl HP:0032392 rdfs:label Nodular subcortical heterotopia in peritrigonal regions Nodular subcortical heterotopia in peritrigonal regions NOT_TRANSLATED -en nl HP:0032392 IAO:0000115 Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei NOT_TRANSLATED -en nl HP:0032393 rdfs:label Diffuse ribbon-like subcortical heterotopia Diffuse ribbon-like subcortical heterotopia NOT_TRANSLATED -en nl HP:0032393 IAO:0000115 Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex NOT_TRANSLATED -en nl HP:0032394 rdfs:label Mesial parasagittal subcortical heterotopia Mesial parasagittal subcortical heterotopia NOT_TRANSLATED -en nl HP:0032394 IAO:0000115 Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia NOT_TRANSLATED -en nl HP:0032395 rdfs:label Curvilinear subcortical heterotopia Curvilinear subcortical heterotopia NOT_TRANSLATED -en nl HP:0032395 IAO:0000115 Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia NOT_TRANSLATED -en nl HP:0032396 rdfs:label Transmantle columnar heterotopia Transmantle columnar heterotopia NOT_TRANSLATED -en nl HP:0032396 IAO:0000115 Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma NOT_TRANSLATED -en nl HP:0032397 rdfs:label Citrullinuria Citrullinuria NOT_TRANSLATED -en nl HP:0032397 IAO:0000115 An increased concentration of citrulline in the urine An increased concentration of citrulline in the urine NOT_TRANSLATED -en nl HP:0032398 rdfs:label Dysgyria Dysgyria NOT_TRANSLATED -en nl HP:0032398 IAO:0000115 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation NOT_TRANSLATED -en nl HP:0032399 rdfs:label Dysgyria with normal cortical thickness Dysgyria with normal cortical thickness NOT_TRANSLATED -en nl HP:0032399 IAO:0000115 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex NOT_TRANSLATED -en nl HP:0032400 rdfs:label Dysgyria with thickened cortex Dysgyria with thickened cortex NOT_TRANSLATED -en nl HP:0032400 IAO:0000115 An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria NOT_TRANSLATED -en nl HP:0032401 rdfs:label Aspartic aciduria Aspartic aciduria NOT_TRANSLATED -en nl HP:0032401 IAO:0000115 A increased concentration of aspartic acid in the urine A increased concentration of aspartic acid in the urine NOT_TRANSLATED -en nl HP:0032403 rdfs:label Asparaginuria Asparaginuria NOT_TRANSLATED -en nl HP:0032403 IAO:0000115 An increased concentration of asparagine in the urine An increased concentration of asparagine in the urine NOT_TRANSLATED -en nl HP:0032404 rdfs:label Testicular mass Testicular mass NOT_TRANSLATED -en nl HP:0032404 IAO:0000115 An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer NOT_TRANSLATED -en nl HP:0032405 rdfs:label Increased urinary phosphoserine level Increased urinary phosphoserine level NOT_TRANSLATED -en nl HP:0032405 IAO:0000115 An increased level of phosphoserine in the urine An increased level of phosphoserine in the urine NOT_TRANSLATED -en nl HP:0032406 rdfs:label Unilateral perisylvian polymicrogyria Unilateral perisylvian polymicrogyria NOT_TRANSLATED -en nl HP:0032406 IAO:0000115 A type of perisylvian polymicrogyria that largely affects one side of the brain A type of perisylvian polymicrogyria that largely affects one side of the brain NOT_TRANSLATED -en nl HP:0032407 rdfs:label Bilateral perisylvian polymicrogyria Bilateral perisylvian polymicrogyria NOT_TRANSLATED -en nl HP:0032407 IAO:0000115 A type of perisylvian polymicrogyria that affects both sides of the brain A type of perisylvian polymicrogyria that affects both sides of the brain NOT_TRANSLATED -en nl HP:0032408 rdfs:label Breast mass Breast mass NOT_TRANSLATED -en nl HP:0032408 IAO:0000115 A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician NOT_TRANSLATED -en nl HP:0032409 rdfs:label Subcortical band heterotopia Subcortical band heterotopia NOT_TRANSLATED -en nl HP:0032409 IAO:0000115 A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum NOT_TRANSLATED -en nl HP:0032410 rdfs:label Bilateral generalized polymicrogyria Bilateral generalized polymicrogyria NOT_TRANSLATED -en nl HP:0032410 IAO:0000115 Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter NOT_TRANSLATED -en nl HP:0032411 rdfs:label Posterior predominant subcortical band heterotopia Posterior predominant subcortical band heterotopia NOT_TRANSLATED -en nl HP:0032411 IAO:0000115 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex NOT_TRANSLATED -en nl HP:0032412 rdfs:label Anterior predominant subcortical band heterotopia Anterior predominant subcortical band heterotopia NOT_TRANSLATED -en nl HP:0032412 IAO:0000115 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes NOT_TRANSLATED -en nl HP:0032413 rdfs:label Diffuse subcortical band heterotopia Diffuse subcortical band heterotopia NOT_TRANSLATED -en nl HP:0032413 IAO:0000115 Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain NOT_TRANSLATED -en nl HP:0032414 rdfs:label Hydroxylysinuria Hydroxylysinuria NOT_TRANSLATED -en nl HP:0032414 IAO:0000115 The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens NOT_TRANSLATED -en nl HP:0032415 rdfs:label Parasagittal parieto-occipital polymicrogyria Parasagittal parieto-occipital polymicrogyria NOT_TRANSLATED -en nl HP:0032415 IAO:0000115 Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex NOT_TRANSLATED -en nl HP:0032416 rdfs:label Retinal microaneurysm Retinal microaneurysm NOT_TRANSLATED -en nl HP:0032416 IAO:0000115 A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells NOT_TRANSLATED -en nl HP:0032417 rdfs:label Periglomerular fibrosis Periglomerular fibrosis NOT_TRANSLATED -en nl HP:0032417 IAO:0000115 Circumferential fibrosis in the interstitium surrounding Bowman's capsule Circumferential fibrosis in the interstitium surrounding Bowman's capsule NOT_TRANSLATED -en nl HP:0032418 rdfs:label Abnormal HDL subfraction concentration Abnormal HDL subfraction concentration NOT_TRANSLATED -en nl HP:0032418 IAO:0000115 An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm) An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm) NOT_TRANSLATED -en nl HP:0032419 rdfs:label Abnormal HDL2a concentration Abnormal HDL2a concentration NOT_TRANSLATED -en nl HP:0032419 IAO:0000115 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm NOT_TRANSLATED -en nl HP:0032420 rdfs:label Increased HDL2a concentration Increased HDL2a concentration NOT_TRANSLATED -en nl HP:0032420 IAO:0000115 An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm NOT_TRANSLATED -en nl HP:0032421 rdfs:label Decreased HDL2a concentration Decreased HDL2a concentration NOT_TRANSLATED -en nl HP:0032421 IAO:0000115 A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm NOT_TRANSLATED -en nl HP:0032422 rdfs:label Abnormal HDL2b concentration Abnormal HDL2b concentration NOT_TRANSLATED -en nl HP:0032422 IAO:0000115 Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED -en nl HP:0032423 rdfs:label Decreased HDL2b concentration Decreased HDL2b concentration NOT_TRANSLATED -en nl HP:0032423 IAO:0000115 A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED -en nl HP:0032424 rdfs:label Increased HDL2b concentration Increased HDL2b concentration NOT_TRANSLATED -en nl HP:0032424 IAO:0000115 An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED -en nl HP:0032425 rdfs:label Abnormal HDL3a concentration Abnormal HDL3a concentration NOT_TRANSLATED -en nl HP:0032425 IAO:0000115 Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm NOT_TRANSLATED -en nl HP:0032426 rdfs:label Abnormal HDL3b concentration Abnormal HDL3b concentration NOT_TRANSLATED -en nl HP:0032426 IAO:0000115 Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm NOT_TRANSLATED -en nl HP:0032427 rdfs:label Abnormal HDL3c concentration Abnormal HDL3c concentration NOT_TRANSLATED -en nl HP:0032427 IAO:0000115 Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm NOT_TRANSLATED -en nl HP:0032428 rdfs:label Increased HDL3a concentration Increased HDL3a concentration NOT_TRANSLATED -en nl HP:0032428 IAO:0000115 An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm NOT_TRANSLATED -en nl HP:0032429 rdfs:label Decreased HDL3a concentration Decreased HDL3a concentration NOT_TRANSLATED -en nl HP:0032429 IAO:0000115 A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm NOT_TRANSLATED -en nl HP:0032430 rdfs:label Increased HDL3b concentration Increased HDL3b concentration NOT_TRANSLATED -en nl HP:0032430 IAO:0000115 An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm NOT_TRANSLATED -en nl HP:0032431 rdfs:label Decreased HDL3b concentration Decreased HDL3b concentration NOT_TRANSLATED -en nl HP:0032431 IAO:0000115 A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm NOT_TRANSLATED -en nl HP:0032432 rdfs:label Increased HDL3c concentration Increased HDL3c concentration NOT_TRANSLATED -en nl HP:0032432 IAO:0000115 An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm NOT_TRANSLATED -en nl HP:0032433 rdfs:label Decreased HDL3c concentration Decreased HDL3c concentration NOT_TRANSLATED -en nl HP:0032433 IAO:0000115 A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm NOT_TRANSLATED -en nl HP:0032434 rdfs:label Delayed umbilical cord separation Delayed umbilical cord separation NOT_TRANSLATED -en nl HP:0032434 IAO:0000115 Separation of the umbilical cord occurs at an abnormally late timepoint Separation of the umbilical cord occurs at an abnormally late timepoint NOT_TRANSLATED -en nl HP:0032435 rdfs:label Neonatal omphalitis Neonatal omphalitis NOT_TRANSLATED -en nl HP:0032435 IAO:0000115 An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period NOT_TRANSLATED -en nl HP:0032436 rdfs:label Abnormal circulating C-reactive protein concentration Abnormal circulating C-reactive protein concentration NOT_TRANSLATED -en nl HP:0032436 IAO:0000115 Any deviation from the normal concentration of C-reactive protein in the blood circulation Any deviation from the normal concentration of C-reactive protein in the blood circulation NOT_TRANSLATED -en nl HP:0032437 rdfs:label Reduced circulating C-reactive protein concecntration Reduced circulating C-reactive protein concecntration NOT_TRANSLATED -en nl HP:0032437 IAO:0000115 An abnormal decrease of the C-reactive protein level in serum An abnormal decrease of the C-reactive protein level in serum NOT_TRANSLATED -en nl HP:0032438 rdfs:label Platelet anisocytosis Platelet anisocytosis NOT_TRANSLATED -en nl HP:0032438 IAO:0000115 Abnormally increased variability in the size of platelets Abnormally increased variability in the size of platelets NOT_TRANSLATED -en nl HP:0032439 rdfs:label Airborn particle hypersensitivity Airborn particle hypersensitivity NOT_TRANSLATED -en nl HP:0032439 IAO:0000115 An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen NOT_TRANSLATED -en nl HP:0032440 rdfs:label Blood group B Blood group B NOT_TRANSLATED -en nl HP:0032440 IAO:0000115 ABO phenotype B, corresponding to the genotype BO or BB ABO phenotype B, corresponding to the genotype BO or BB NOT_TRANSLATED -en nl HP:0032441 rdfs:label Blood group AB Blood group AB NOT_TRANSLATED -en nl HP:0032441 IAO:0000115 ABO phenotype AB, corresponding to the genotype AB ABO phenotype AB, corresponding to the genotype AB NOT_TRANSLATED -en nl HP:0032442 rdfs:label Blood group O Blood group O NOT_TRANSLATED -en nl HP:0032442 IAO:0000115 ABO phenotype O, corresponding to the genotype OO ABO phenotype O, corresponding to the genotype OO NOT_TRANSLATED -en nl HP:0032443 rdfs:label Past medical history Past medical history NOT_TRANSLATED -en nl HP:0032443 IAO:0000115 In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc NOT_TRANSLATED -en nl HP:0032444 rdfs:label Status post organ transplantation Status post organ transplantation NOT_TRANSLATED -en nl HP:0032444 IAO:0000115 The affected individual has received an organ transplant previous to the current medical encounter The affected individual has received an organ transplant previous to the current medical encounter NOT_TRANSLATED -en nl HP:0032445 rdfs:label Pulmonary cyst Pulmonary cyst NOT_TRANSLATED -en nl HP:0032445 IAO:0000115 A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid NOT_TRANSLATED -en nl HP:0032446 rdfs:label Pulmonary bulla Pulmonary bulla NOT_TRANSLATED -en nl HP:0032446 IAO:0000115 Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema NOT_TRANSLATED -en nl HP:0032447 rdfs:label Pulmonary bleb Pulmonary bleb NOT_TRANSLATED -en nl HP:0032447 IAO:0000115 A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura NOT_TRANSLATED -en nl HP:0032448 rdfs:label Achlorhydria Achlorhydria NOT_TRANSLATED -en nl HP:0032448 IAO:0000115 A condition in which production of hydrochloric acid in the stomach is absent A condition in which production of hydrochloric acid in the stomach is absent NOT_TRANSLATED -en nl HP:0032449 rdfs:label Abnormal dermoepidermal hemidesmosome morphology Abnormal dermoepidermal hemidesmosome morphology NOT_TRANSLATED -en nl HP:0032449 IAO:0000115 An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane NOT_TRANSLATED -en nl HP:0032450 rdfs:label Positive blood arsenic test Positive blood arsenic test NOT_TRANSLATED -en nl HP:0032450 IAO:0000115 Detection of arsenic in the blood circulation Detection of arsenic in the blood circulation NOT_TRANSLATED -en nl HP:0032451 rdfs:label Oral melanotic macule Oral melanotic macule NOT_TRANSLATED -en nl HP:0032451 IAO:0000115 Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented NOT_TRANSLATED -en nl HP:0032452 rdfs:label Oral melanoacanthoma Oral melanoacanthoma NOT_TRANSLATED -en nl HP:0032452 IAO:0000115 Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions NOT_TRANSLATED -en nl HP:0032453 rdfs:label Abnormal lip pigmentation Abnormal lip pigmentation NOT_TRANSLATED -en nl HP:0032453 IAO:0000115 Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal NOT_TRANSLATED -en nl HP:0032454 rdfs:label Labial melanotic macule Labial melanotic macule NOT_TRANSLATED -en nl HP:0032454 IAO:0000115 Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture NOT_TRANSLATED -en nl HP:0032455 rdfs:label Reduced granulocyte CD18 level Reduced granulocyte CD18 level NOT_TRANSLATED -en nl HP:0032455 IAO:0000115 Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry NOT_TRANSLATED -en nl HP:0032456 rdfs:label Unlayered lissencephaly Unlayered lissencephaly NOT_TRANSLATED -en nl HP:0032456 IAO:0000115 A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter NOT_TRANSLATED -en nl HP:0032457 rdfs:label 2-3-layered lissencephaly 2-3-layered lissencephaly NOT_TRANSLATED -en nl HP:0032457 IAO:0000115 Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity NOT_TRANSLATED -en nl HP:0032458 rdfs:label Narrowing of medullary canal Narrowing of medullary canal NOT_TRANSLATED -en nl HP:0032458 IAO:0000115 A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located NOT_TRANSLATED -en nl HP:0032459 rdfs:label Abnormal phosphoribosylpyrophosphate synthetase level Abnormal phosphoribosylpyrophosphate synthetase level NOT_TRANSLATED -en nl HP:0032459 IAO:0000115 Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate NOT_TRANSLATED -en nl HP:0032460 rdfs:label Decreased phosphoribosylpyrophosphate synthetase level Decreased phosphoribosylpyrophosphate synthetase level NOT_TRANSLATED -en nl HP:0032460 IAO:0000115 Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate NOT_TRANSLATED -en nl HP:0032462 rdfs:label Increased circulating palmitate level Increased circulating palmitate level NOT_TRANSLATED -en nl HP:0032462 IAO:0000115 An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation NOT_TRANSLATED -en nl HP:0032463 rdfs:label Reduced circulating fibronectin level Reduced circulating fibronectin level NOT_TRANSLATED -en nl HP:0032463 IAO:0000115 A reduction below the normal concentration of fibronectin the the blood circulation A reduction below the normal concentration of fibronectin the the blood circulation NOT_TRANSLATED -en nl HP:0032464 rdfs:label Ureteral hypoplasia Ureteral hypoplasia NOT_TRANSLATED -en nl HP:0032464 IAO:0000115 Underdevelopment of the ureter Underdevelopment of the ureter NOT_TRANSLATED -en nl HP:0032465 rdfs:label Bladder trabeculation Bladder trabeculation NOT_TRANSLATED -en nl HP:0032465 IAO:0000115 Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface NOT_TRANSLATED -en nl HP:0032466 rdfs:label Aplasia of the olfactory bulb Aplasia of the olfactory bulb NOT_TRANSLATED -en nl HP:0032466 IAO:0000115 Lack of formation (congenital absence) of the olfactory bulb Lack of formation (congenital absence) of the olfactory bulb NOT_TRANSLATED -en nl HP:0032467 rdfs:label Past obstetric history Past obstetric history NOT_TRANSLATED -en nl HP:0032467 IAO:0000115 Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies NOT_TRANSLATED -en nl HP:0032468 rdfs:label History of stillbirth History of stillbirth NOT_TRANSLATED -en nl HP:0032468 IAO:0000115 One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation) One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation) NOT_TRANSLATED -en nl HP:0032469 rdfs:label Anti-asialoglycoprotein receptor antibody positivity Anti-asialoglycoprotein receptor antibody positivity NOT_TRANSLATED -en nl HP:0032469 IAO:0000115 Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation NOT_TRANSLATED -en nl HP:0032470 rdfs:label Monilethrix Monilethrix NOT_TRANSLATED -en nl HP:0032470 IAO:0000115 The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture NOT_TRANSLATED -en nl HP:0032471 rdfs:label Focal polymicrogyria Focal polymicrogyria NOT_TRANSLATED -en nl HP:0032471 IAO:0000115 Polymicrogyria affecting one or multiple small areas of the cerebral cortex Polymicrogyria affecting one or multiple small areas of the cerebral cortex NOT_TRANSLATED -en nl HP:0032472 rdfs:label Abnormal urine urobilinogen level Abnormal urine urobilinogen level NOT_TRANSLATED -en nl HP:0032472 IAO:0000115 An abnormal concentration of urobilinogen in the urine An abnormal concentration of urobilinogen in the urine NOT_TRANSLATED -en nl HP:0032473 rdfs:label Decreased urine urobilinogen Decreased urine urobilinogen NOT_TRANSLATED -en nl HP:0032473 IAO:0000115 An abnormally reduced concentration of urobilinogen in the urine An abnormally reduced concentration of urobilinogen in the urine NOT_TRANSLATED -en nl HP:0032475 rdfs:label 6-layered lissencephaly 6-layered lissencephaly NOT_TRANSLATED -en nl HP:0032476 rdfs:label Abnormal circulating vitamin B6 level Abnormal circulating vitamin B6 level NOT_TRANSLATED -en nl HP:0032476 IAO:0000115 An abnormal concentration of vitamin B6 in the blood circulation An abnormal concentration of vitamin B6 in the blood circulation NOT_TRANSLATED -en nl HP:0032477 rdfs:label Elevated circulating vitamin B6 level Elevated circulating vitamin B6 level NOT_TRANSLATED -en nl HP:0032477 IAO:0000115 An abnormally increased concentration of vitamin B6 in the blood circulation An abnormally increased concentration of vitamin B6 in the blood circulation NOT_TRANSLATED -en nl HP:0032478 rdfs:label Lateral spinal meningocele Lateral spinal meningocele NOT_TRANSLATED -en nl HP:0032478 IAO:0000115 Protrusion of the arachnoid and dura through spinal foramina Protrusion of the arachnoid and dura through spinal foramina NOT_TRANSLATED -en nl HP:0032479 rdfs:label Preimplantation lethality Preimplantation lethality NOT_TRANSLATED -en nl HP:0032479 IAO:0000115 It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development NOT_TRANSLATED -en nl HP:0032480 rdfs:label Beta-aminoisobutyric aciduria Beta-aminoisobutyric aciduria NOT_TRANSLATED -en nl HP:0032480 IAO:0000115 An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine NOT_TRANSLATED -en nl HP:0032481 rdfs:label Abnormal pituitary glycoprotein hormone alpha subunit level Abnormal pituitary glycoprotein hormone alpha subunit level NOT_TRANSLATED -en nl HP:0032481 IAO:0000115 Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) NOT_TRANSLATED -en nl HP:0032482 rdfs:label Decreased pituitary glycoprotein hormone alpha subunit level Decreased pituitary glycoprotein hormone alpha subunit level NOT_TRANSLATED -en nl HP:0032482 IAO:0000115 An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) NOT_TRANSLATED -en nl HP:0032484 rdfs:label Elevated fecal sodium Elevated fecal sodium NOT_TRANSLATED -en nl HP:0032484 IAO:0000115 An elevated concentration of sodium in feces An elevated concentration of sodium in feces NOT_TRANSLATED -en nl HP:0032485 rdfs:label Abnormal fecal osmolality Abnormal fecal osmolality NOT_TRANSLATED -en nl HP:0032485 IAO:0000115 Abnormal concentration of feces as assessed by the total number of solute particles per kilogram Abnormal concentration of feces as assessed by the total number of solute particles per kilogram NOT_TRANSLATED -en nl HP:0032486 rdfs:label Elevated fecal osmolality Elevated fecal osmolality NOT_TRANSLATED -en nl HP:0032486 IAO:0000115 Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram NOT_TRANSLATED -en nl HP:0032487 rdfs:label Reduced fecal osmolality Reduced fecal osmolality NOT_TRANSLATED -en nl HP:0032487 IAO:0000115 Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram NOT_TRANSLATED -en nl HP:0032488 rdfs:label Abnormal fecal pH Abnormal fecal pH NOT_TRANSLATED -en nl HP:0032488 IAO:0000115 Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline NOT_TRANSLATED -en nl HP:0032489 rdfs:label Elevated fecal pH Elevated fecal pH NOT_TRANSLATED -en nl HP:0032489 IAO:0000115 Abnormally high fecal pH, i.e., abnormal alkalinity of feces Abnormally high fecal pH, i.e., abnormal alkalinity of feces NOT_TRANSLATED -en nl HP:0032490 rdfs:label Decreased fecal pH Decreased fecal pH NOT_TRANSLATED -en nl HP:0032490 IAO:0000115 Abnormally low fecal pH, i.e., abnormal acidity of feces Abnormally low fecal pH, i.e., abnormal acidity of feces NOT_TRANSLATED -en nl HP:0032491 rdfs:label Increased circulating argininosuccinic acid Increased circulating argininosuccinic acid NOT_TRANSLATED -en nl HP:0032491 IAO:0000115 An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation NOT_TRANSLATED -en nl HP:0032492 rdfs:label Anti-myelin oligodendrocyte glycoprotein antibody positivity Anti-myelin oligodendrocyte glycoprotein antibody positivity NOT_TRANSLATED -en nl HP:0032492 IAO:0000115 Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein NOT_TRANSLATED -en nl HP:0032493 rdfs:label Increased circulating trypsinogen Increased circulating trypsinogen NOT_TRANSLATED -en nl HP:0032493 IAO:0000115 An abnormally high concentration of trypsinogen in the blood circulation An abnormally high concentration of trypsinogen in the blood circulation NOT_TRANSLATED -en nl HP:0032495 rdfs:label Abnormal terminal:vellus ratio Abnormal terminal:vellus ratio NOT_TRANSLATED -en nl HP:0032495 IAO:0000115 A deviation from the normal proportion of terminal to vellus hairs A deviation from the normal proportion of terminal to vellus hairs NOT_TRANSLATED -en nl HP:0032496 rdfs:label Elevated terminal:vellus ratio Elevated terminal:vellus ratio NOT_TRANSLATED -en nl HP:0032496 IAO:0000115 An increased proportion of terminal hairs compared to vellus hairs An increased proportion of terminal hairs compared to vellus hairs NOT_TRANSLATED -en nl HP:0032497 rdfs:label Reduced terminal:vellus ratio Reduced terminal:vellus ratio NOT_TRANSLATED -en nl HP:0032497 IAO:0000115 A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia NOT_TRANSLATED -en nl HP:0032499 rdfs:label Giant neutrophil granules Giant neutrophil granules NOT_TRANSLATED -en nl HP:0032499 IAO:0000115 The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation NOT_TRANSLATED -en nl HP:0032500 rdfs:label Exacerbated by tobacco use Exacerbated by tobacco use NOT_TRANSLATED -en nl HP:0032500 IAO:0000115 Applied to a sign or symptom that is worsened by smoking tobacco products Applied to a sign or symptom that is worsened by smoking tobacco products NOT_TRANSLATED -en nl HP:0032501 rdfs:label Exacerbated by contraceptive medication Exacerbated by contraceptive medication NOT_TRANSLATED -en nl HP:0032501 IAO:0000115 Applied to a sign or symptom that is worsened by taking contraceptive medication Applied to a sign or symptom that is worsened by taking contraceptive medication NOT_TRANSLATED -en nl HP:0032502 rdfs:label Exacerbated by barbiturate medication Exacerbated by barbiturate medication NOT_TRANSLATED -en nl HP:0032502 IAO:0000115 Applied to a sign or symptom that is worsened by taking barbituates Applied to a sign or symptom that is worsened by taking barbituates NOT_TRANSLATED -en nl HP:0032503 rdfs:label Ameliorated by ethanol ingestion Ameliorated by ethanol ingestion NOT_TRANSLATED -en nl HP:0032503 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol) Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol) NOT_TRANSLATED -en nl HP:0032504 rdfs:label Lhermitte's sign Lhermitte's sign NOT_TRANSLATED -en nl HP:0032504 IAO:0000115 An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk NOT_TRANSLATED -en nl HP:0032505 rdfs:label Hydrophobia Hydrophobia NOT_TRANSLATED -en nl HP:0032505 IAO:0000115 Pharyngeal spasms provoked by an attempt to drink Pharyngeal spasms provoked by an attempt to drink NOT_TRANSLATED -en nl HP:0032506 rdfs:label Alien limb phenomenon Alien limb phenomenon NOT_TRANSLATED -en nl HP:0032506 IAO:0000115 Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb NOT_TRANSLATED -en nl HP:0032507 rdfs:label Labiomental fasciculations Labiomental fasciculations NOT_TRANSLATED -en nl HP:0032507 IAO:0000115 Fasciculations affecting the tongue muscle and the musculature of the chin Fasciculations affecting the tongue muscle and the musculature of the chin NOT_TRANSLATED -en nl HP:0032508 rdfs:label Polyembolokoilamania Polyembolokoilamania NOT_TRANSLATED -en nl HP:0032508 IAO:0000115 Habitual insertion of foreign bodies into bodily orifices Habitual insertion of foreign bodies into bodily orifices NOT_TRANSLATED -en nl HP:0032509 rdfs:label Onychotillomania Onychotillomania NOT_TRANSLATED -en nl HP:0032509 IAO:0000115 Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails NOT_TRANSLATED -en nl HP:0032510 rdfs:label Tendon pain Tendon pain NOT_TRANSLATED -en nl HP:0032510 IAO:0000115 An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon NOT_TRANSLATED -en nl HP:0032511 rdfs:label Superiorly positioned umbilicus Superiorly positioned umbilicus NOT_TRANSLATED -en nl HP:0032511 IAO:0000115 The position of the umbilicus (belly button) is abnormally high (superior) The position of the umbilicus (belly button) is abnormally high (superior) NOT_TRANSLATED -en nl HP:0032513 rdfs:label Four-vessel umbilical cord Four-vessel umbilical cord NOT_TRANSLATED -en nl HP:0032513 IAO:0000115 Four-vessel umbilical cord containing two arteries and two veins Four-vessel umbilical cord containing two arteries and two veins NOT_TRANSLATED -en nl HP:0032514 rdfs:label Duplicated lacrimal punctum Duplicated lacrimal punctum NOT_TRANSLATED -en nl HP:0032514 IAO:0000115 A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face NOT_TRANSLATED -en nl HP:0032515 rdfs:label Deep dermatophytosis Deep dermatophytosis NOT_TRANSLATED -en nl HP:0032515 IAO:0000115 A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements NOT_TRANSLATED -en nl HP:0032516 rdfs:label Invasive dermatophyte infection Invasive dermatophyte infection NOT_TRANSLATED -en nl HP:0032516 IAO:0000115 Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails NOT_TRANSLATED -en nl HP:0032517 rdfs:label Majocchi's granuloma Majocchi's granuloma NOT_TRANSLATED -en nl HP:0032517 IAO:0000115 Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles NOT_TRANSLATED -en nl HP:0032518 rdfs:label Disseminated dermatophytosis Disseminated dermatophytosis NOT_TRANSLATED -en nl HP:0032518 IAO:0000115 A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs NOT_TRANSLATED -en nl HP:0032519 rdfs:label Increased Burr cell count Increased Burr cell count NOT_TRANSLATED -en nl HP:0032519 IAO:0000115 Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals NOT_TRANSLATED -en nl HP:0032520 rdfs:label Masseter muscular weakness Masseter muscular weakness NOT_TRANSLATED -en nl HP:0032520 IAO:0000115 Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw NOT_TRANSLATED -en nl HP:0032521 rdfs:label Self hugging Self hugging NOT_TRANSLATED -en nl HP:0032521 IAO:0000115 Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting NOT_TRANSLATED -en nl HP:0032522 rdfs:label Ameliorated by immunosuppresion Ameliorated by immunosuppresion NOT_TRANSLATED -en nl HP:0032522 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication NOT_TRANSLATED -en nl HP:0032523 rdfs:label Tendon thickening Tendon thickening NOT_TRANSLATED -en nl HP:0032523 IAO:0000115 An abnormal increase in the thickness (diameter) of a tendon An abnormal increase in the thickness (diameter) of a tendon NOT_TRANSLATED -en nl HP:0032524 rdfs:label Long thumb Long thumb NOT_TRANSLATED -en nl HP:0032524 IAO:0000115 Length of the thumb is greater than normal Length of the thumb is greater than normal NOT_TRANSLATED -en nl HP:0032525 rdfs:label Aggravated by acetylcholinesterase inhibitor Aggravated by acetylcholinesterase inhibitor NOT_TRANSLATED -en nl HP:0032525 IAO:0000115 Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon) Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon) NOT_TRANSLATED -en nl HP:0032526 rdfs:label Ameliorated by acetylcholinesterase inhibitor Ameliorated by acetylcholinesterase inhibitor NOT_TRANSLATED -en nl HP:0032526 IAO:0000115 Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon NOT_TRANSLATED -en nl HP:0032527 rdfs:label Inferiorly positioned umbilicus Inferiorly positioned umbilicus NOT_TRANSLATED -en nl HP:0032527 IAO:0000115 The position of the umbilicus (belly button) is abnormally low (inferior) The position of the umbilicus (belly button) is abnormally low (inferior) NOT_TRANSLATED -en nl HP:0032528 rdfs:label Elevated urinary 4-hydroxybutyric acid Elevated urinary 4-hydroxybutyric acid NOT_TRANSLATED -en nl HP:0032528 IAO:0000115 An increased amount of 4-hydroxybutyric acid in the urine An increased amount of 4-hydroxybutyric acid in the urine NOT_TRANSLATED -en nl HP:0032530 rdfs:label Decreased succinic semialdehyde dehydrogenase level Decreased succinic semialdehyde dehydrogenase level NOT_TRANSLATED -en nl HP:0032530 IAO:0000115 Reduced level of succinic semialdehyde dehydrogenase (SSADH) Reduced level of succinic semialdehyde dehydrogenase (SSADH) NOT_TRANSLATED -en nl HP:0032531 rdfs:label Elevated CSF gamma-aminobutyric acid concentration Elevated CSF gamma-aminobutyric acid concentration NOT_TRANSLATED -en nl HP:0032532 rdfs:label Elevated CSF 4-hydroxybutyric acid concentration Elevated CSF 4-hydroxybutyric acid concentration NOT_TRANSLATED -en nl HP:0032532 IAO:0000115 Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF) Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF) NOT_TRANSLATED -en nl HP:0032533 rdfs:label Elevated circulating acetone concentration Elevated circulating acetone concentration NOT_TRANSLATED -en nl HP:0032533 IAO:0000115 An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies NOT_TRANSLATED -en nl HP:0032534 rdfs:label Exacerbated by methylxanthine ingestion Exacerbated by methylxanthine ingestion NOT_TRANSLATED -en nl HP:0032534 IAO:0000115 Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate) Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate) NOT_TRANSLATED -en nl HP:0032535 rdfs:label Cervical (neck) Cervical (neck) NOT_TRANSLATED -en nl HP:0032535 IAO:0000115 Applies to an abnormality that is situated in the neck Applies to an abnormality that is situated in the neck NOT_TRANSLATED -en nl HP:0032536 rdfs:label Increased number of lymph nodes Increased number of lymph nodes NOT_TRANSLATED -en nl HP:0032536 IAO:0000115 An abnormally elevated number of lymph nodes in an anatomical region An abnormally elevated number of lymph nodes in an anatomical region NOT_TRANSLATED -en nl HP:0032537 rdfs:label Delayed fracture healing Delayed fracture healing NOT_TRANSLATED -en nl HP:0032537 IAO:0000115 A delay in healing of a fracture past the expected duration A delay in healing of a fracture past the expected duration NOT_TRANSLATED -en nl HP:0032538 rdfs:label Pretibial dimple Pretibial dimple NOT_TRANSLATED -en nl HP:0032538 IAO:0000115 A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg NOT_TRANSLATED -en nl HP:0032539 rdfs:label Joint extensor surface localization Joint extensor surface localization NOT_TRANSLATED -en nl HP:0032539 IAO:0000115 Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint NOT_TRANSLATED -en nl HP:0032540 rdfs:label Joint flexor surface localization Joint flexor surface localization NOT_TRANSLATED -en nl HP:0032540 IAO:0000115 Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed) Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed) NOT_TRANSLATED -en nl HP:0032541 rdfs:label Knuckle pad Knuckle pad NOT_TRANSLATED -en nl HP:0032541 IAO:0000115 Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern NOT_TRANSLATED -en nl HP:0032542 rdfs:label Exacerbated by pregnancy Exacerbated by pregnancy NOT_TRANSLATED -en nl HP:0032542 IAO:0000115 Applied to a sign or symptom that is worsened by being pregnant Applied to a sign or symptom that is worsened by being pregnant NOT_TRANSLATED -en nl HP:0032543 rdfs:label Lithoptysis Lithoptysis NOT_TRANSLATED -en nl HP:0032543 IAO:0000115 Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen NOT_TRANSLATED -en nl HP:0032544 rdfs:label Predominant small joint localization Predominant small joint localization NOT_TRANSLATED -en nl HP:0032544 IAO:0000115 Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck NOT_TRANSLATED -en nl HP:0032545 rdfs:label Abdominal rigidity Abdominal rigidity NOT_TRANSLATED -en nl HP:0032545 IAO:0000115 Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area NOT_TRANSLATED -en nl HP:0032546 rdfs:label Abdominal guarding Abdominal guarding NOT_TRANSLATED -en nl HP:0032546 IAO:0000115 A voluntary contraction of the abdominal wall musculature to avoid pain A voluntary contraction of the abdominal wall musculature to avoid pain NOT_TRANSLATED -en nl HP:0032547 rdfs:label Low intraocular pressure Low intraocular pressure NOT_TRANSLATED -en nl HP:0032547 IAO:0000115 An abnormal decrease of the pressure within the eye An abnormal decrease of the pressure within the eye NOT_TRANSLATED -en nl HP:0032548 rdfs:label Increased placental thickness Increased placental thickness NOT_TRANSLATED -en nl HP:0032548 IAO:0000115 Abnormally elevated placental thickness Abnormally elevated placental thickness NOT_TRANSLATED -en nl HP:0032549 rdfs:label Persistent asymmetrical tonic neck reflex Persistent asymmetrical tonic neck reflex NOT_TRANSLATED -en nl HP:0032549 IAO:0000115 Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers NOT_TRANSLATED -en nl HP:0032550 rdfs:label Howell-Jolly bodies Howell-Jolly bodies NOT_TRANSLATED -en nl HP:0032550 IAO:0000115 Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets NOT_TRANSLATED -en nl HP:0032551 rdfs:label Hemorrhoids Hemorrhoids NOT_TRANSLATED -en nl HP:0032551 IAO:0000115 Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain NOT_TRANSLATED -en nl HP:0032552 rdfs:label Abnormal pulse Abnormal pulse NOT_TRANSLATED -en nl HP:0032552 IAO:0000115 An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart NOT_TRANSLATED -en nl HP:0032553 rdfs:label Weak pulse Weak pulse NOT_TRANSLATED -en nl HP:0032553 IAO:0000115 A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse NOT_TRANSLATED -en nl HP:0032554 rdfs:label Absent pulse Absent pulse NOT_TRANSLATED -en nl HP:0032554 IAO:0000115 The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination NOT_TRANSLATED -en nl HP:0032555 rdfs:label Bounding pulse Bounding pulse NOT_TRANSLATED -en nl HP:0032555 IAO:0000115 Increased amplitude (strength) of the pulse Increased amplitude (strength) of the pulse NOT_TRANSLATED -en nl HP:0032556 rdfs:label Circumoral cyanosis Circumoral cyanosis NOT_TRANSLATED -en nl HP:0032556 IAO:0000115 Persistent blue color of the skin that surrounds the mouth Persistent blue color of the skin that surrounds the mouth NOT_TRANSLATED -en nl HP:0032557 rdfs:label History of bone marrow transplant History of bone marrow transplant NOT_TRANSLATED -en nl HP:0032557 IAO:0000115 A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor NOT_TRANSLATED -en nl HP:0032558 rdfs:label Absent sperm flagella Absent sperm flagella NOT_TRANSLATED -en nl HP:0032558 IAO:0000115 Sperm cells lacking flagella Sperm cells lacking flagella NOT_TRANSLATED -en nl HP:0032559 rdfs:label Short sperm flagella Short sperm flagella NOT_TRANSLATED -en nl HP:0032559 IAO:0000115 Sperm cells with abnormally short flagella Sperm cells with abnormally short flagella NOT_TRANSLATED -en nl HP:0032560 rdfs:label Coiled sperm flagella Coiled sperm flagella NOT_TRANSLATED -en nl HP:0032560 IAO:0000115 Sperm cells whose flagella are twisted (coiled) Sperm cells whose flagella are twisted (coiled) NOT_TRANSLATED -en nl HP:0032561 rdfs:label Microcephalic sperm head Microcephalic sperm head NOT_TRANSLATED -en nl HP:0032561 IAO:0000115 Decreased size of the head of sperm Decreased size of the head of sperm NOT_TRANSLATED -en nl HP:0032562 rdfs:label Tapered sperm head Tapered sperm head NOT_TRANSLATED -en nl HP:0032562 IAO:0000115 Sperm with cigar-shaped heads that gradually dimish in diameter (taper) Sperm with cigar-shaped heads that gradually dimish in diameter (taper) NOT_TRANSLATED -en nl HP:0032563 rdfs:label Dacryocytosis Dacryocytosis NOT_TRANSLATED -en nl HP:0032563 IAO:0000115 Presence of teardrop-shaped red blood cells Presence of teardrop-shaped red blood cells NOT_TRANSLATED -en nl HP:0032564 rdfs:label Ileitis Ileitis NOT_TRANSLATED -en nl HP:0032564 IAO:0000115 Inflammation of the ileum Inflammation of the ileum NOT_TRANSLATED -en nl HP:0032565 rdfs:label Vaginal mucosal ulceration Vaginal mucosal ulceration NOT_TRANSLATED -en nl HP:0032566 rdfs:label Oval macrocytosis Oval macrocytosis NOT_TRANSLATED -en nl HP:0032566 IAO:0000115 Enlarged, oval-shaped erythrocytes (red blood cells) Enlarged, oval-shaped erythrocytes (red blood cells) NOT_TRANSLATED -en nl HP:0032567 rdfs:label Lipiduria Lipiduria NOT_TRANSLATED -en nl HP:0032567 IAO:0000115 An increased lipid content in the urine An increased lipid content in the urine NOT_TRANSLATED -en nl HP:0032568 rdfs:label Urinary mulberry cells Urinary mulberry cells NOT_TRANSLATED -en nl HP:0032568 IAO:0000115 Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance NOT_TRANSLATED -en nl HP:0032569 rdfs:label Temporal bossing Temporal bossing NOT_TRANSLATED -en nl HP:0032570 rdfs:label Pontine ischemic lacunes Pontine ischemic lacunes NOT_TRANSLATED -en nl HP:0032570 IAO:0000115 Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons NOT_TRANSLATED -en nl HP:0032571 rdfs:label Increased oocyte death Increased oocyte death NOT_TRANSLATED -en nl HP:0032571 IAO:0000115 An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization NOT_TRANSLATED -en nl HP:0032572 rdfs:label Abnormal urinary nucleobase concentration Abnormal urinary nucleobase concentration NOT_TRANSLATED -en nl HP:0032572 IAO:0000115 A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U) A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U) NOT_TRANSLATED -en nl HP:0032573 rdfs:label Elevated urinary cytidine Elevated urinary cytidine NOT_TRANSLATED -en nl HP:0032573 IAO:0000115 Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond NOT_TRANSLATED -en nl HP:0032574 rdfs:label Elevated urinary uridine level Elevated urinary uridine level NOT_TRANSLATED -en nl HP:0032574 IAO:0000115 Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond NOT_TRANSLATED -en nl HP:0032575 rdfs:label Decreased circulating 12-HETE Decreased circulating 12-HETE NOT_TRANSLATED -en nl HP:0032575 IAO:0000115 A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid NOT_TRANSLATED -en nl HP:0032576 rdfs:label Intracellular accumulation of Dol-PP-GlcNAc2Man5 Intracellular accumulation of Dol-PP-GlcNAc2Man5 NOT_TRANSLATED -en nl HP:0032576 IAO:0000115 Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol NOT_TRANSLATED -en nl HP:0032577 rdfs:label Clonal T cell receptor rearrangement Clonal T cell receptor rearrangement NOT_TRANSLATED -en nl HP:0032577 IAO:0000115 Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone NOT_TRANSLATED -en nl HP:0032578 rdfs:label Third ventricle colloid cyst Third ventricle colloid cyst NOT_TRANSLATED -en nl HP:0032578 IAO:0000115 An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus NOT_TRANSLATED -en nl HP:0032579 rdfs:label Vascular hamartoma Vascular hamartoma NOT_TRANSLATED -en nl HP:0032579 IAO:0000115 A benign focal growth composed of vascular tissue A benign focal growth composed of vascular tissue NOT_TRANSLATED -en nl HP:0032580 rdfs:label Abnormal bulbus cordis morphology Abnormal bulbus cordis morphology NOT_TRANSLATED -en nl HP:0032580 IAO:0000115 Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis NOT_TRANSLATED -en nl HP:0032581 rdfs:label Abnormal renal insterstitial morphology Abnormal renal insterstitial morphology NOT_TRANSLATED -en nl HP:0032581 IAO:0000115 Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid NOT_TRANSLATED -en nl HP:0032582 rdfs:label Renal interstitial foam cells Renal interstitial foam cells NOT_TRANSLATED -en nl HP:0032582 IAO:0000115 Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles NOT_TRANSLATED -en nl HP:0032583 rdfs:label Renal glomerular foam cells Renal glomerular foam cells NOT_TRANSLATED -en nl HP:0032584 rdfs:label Renal interstitial neutrophil infiltration Renal interstitial neutrophil infiltration NOT_TRANSLATED -en nl HP:0032584 IAO:0000115 Increased numbers of neutrophils in the interstitial tissues of the kidney Increased numbers of neutrophils in the interstitial tissues of the kidney NOT_TRANSLATED -en nl HP:0032585 rdfs:label Renal interstitial eosinophil infiltration Renal interstitial eosinophil infiltration NOT_TRANSLATED -en nl HP:0032585 IAO:0000115 Increased numbers of eosinophils in the interstitial tissues of the kidney Increased numbers of eosinophils in the interstitial tissues of the kidney NOT_TRANSLATED -en nl HP:0032586 rdfs:label Renal interstitial plasma cell infiltration Renal interstitial plasma cell infiltration NOT_TRANSLATED -en nl HP:0032586 IAO:0000115 Increased numbers of plasma cells in the interstitial tissues of the kidney Increased numbers of plasma cells in the interstitial tissues of the kidney NOT_TRANSLATED -en nl HP:0032587 rdfs:label Renal interstitial calcium oxalate Renal interstitial calcium oxalate NOT_TRANSLATED -en nl HP:0032587 IAO:0000115 The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney NOT_TRANSLATED -en nl HP:0032588 rdfs:label Hand apraxia Hand apraxia NOT_TRANSLATED -en nl HP:0032588 IAO:0000115 Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects NOT_TRANSLATED -en nl HP:0032589 rdfs:label Renal lymphocytic tubulitis Renal lymphocytic tubulitis NOT_TRANSLATED -en nl HP:0032589 IAO:0000115 Infiltration of the renal tubular epithelium by lymphocytes Infiltration of the renal tubular epithelium by lymphocytes NOT_TRANSLATED -en nl HP:0032590 rdfs:label Renal neutrophilic tubulitis Renal neutrophilic tubulitis NOT_TRANSLATED -en nl HP:0032590 IAO:0000115 Infiltration of the renal tubular epithelium by neutrophils Infiltration of the renal tubular epithelium by neutrophils NOT_TRANSLATED -en nl HP:0032591 rdfs:label Renal interstitial hemosiderin Renal interstitial hemosiderin NOT_TRANSLATED -en nl HP:0032591 IAO:0000115 Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney NOT_TRANSLATED -en nl HP:0032592 rdfs:label Aplasia of the right hemidiaphragm Aplasia of the right hemidiaphragm NOT_TRANSLATED -en nl HP:0032592 IAO:0000115 Congenital absence of the right-sided diaphragm Congenital absence of the right-sided diaphragm NOT_TRANSLATED -en nl HP:0032593 rdfs:label Myoglobin casts Myoglobin casts NOT_TRANSLATED -en nl HP:0032593 IAO:0000115 A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented NOT_TRANSLATED -en nl HP:0032594 rdfs:label Renal tubular basement membrane denudation Renal tubular basement membrane denudation NOT_TRANSLATED -en nl HP:0032594 IAO:0000115 Naked basement membranes without tubular epithelium Naked basement membranes without tubular epithelium NOT_TRANSLATED -en nl HP:0032595 rdfs:label Renal tubular epithelial cell detachment Renal tubular epithelial cell detachment NOT_TRANSLATED -en nl HP:0032595 IAO:0000115 Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved NOT_TRANSLATED -en nl HP:0032596 rdfs:label Renal tubular epithelial cell cytoplasmic vacuolization Renal tubular epithelial cell cytoplasmic vacuolization NOT_TRANSLATED -en nl HP:0032596 IAO:0000115 Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size NOT_TRANSLATED -en nl HP:0032597 rdfs:label Renal tubular epithelial cell sloughing Renal tubular epithelial cell sloughing NOT_TRANSLATED -en nl HP:0032597 IAO:0000115 At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast NOT_TRANSLATED -en nl HP:0032598 rdfs:label Blebbing of apical cytoplasm of renal tubular epithelial cells Blebbing of apical cytoplasm of renal tubular epithelial cells NOT_TRANSLATED -en nl HP:0032598 IAO:0000115 Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule NOT_TRANSLATED -en nl HP:0032599 rdfs:label Abnormal renal tubular epithelial morphology Abnormal renal tubular epithelial morphology NOT_TRANSLATED -en nl HP:0032599 IAO:0000115 Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine NOT_TRANSLATED -en nl HP:0032600 rdfs:label Renal tubular epithelial cell hyaline droplets Renal tubular epithelial cell hyaline droplets NOT_TRANSLATED -en nl HP:0032600 IAO:0000115 Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell NOT_TRANSLATED -en nl HP:0032601 rdfs:label Multinucleation of renal tubular epithelial cells Multinucleation of renal tubular epithelial cells NOT_TRANSLATED -en nl HP:0032601 IAO:0000115 Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view NOT_TRANSLATED -en nl HP:0032602 rdfs:label Prominent nucleoli of renal tubular epithelial cells Prominent nucleoli of renal tubular epithelial cells NOT_TRANSLATED -en nl HP:0032602 IAO:0000115 Tubular epithelium with nucleoli clearly visible at 100-fold magnification Tubular epithelium with nucleoli clearly visible at 100-fold magnification NOT_TRANSLATED -en nl HP:0032603 rdfs:label Renal tubular epithelial cell simplification Renal tubular epithelial cell simplification NOT_TRANSLATED -en nl HP:0032603 IAO:0000115 Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts NOT_TRANSLATED -en nl HP:0032604 rdfs:label Renal tubular epithelial cell mitosis Renal tubular epithelial cell mitosis NOT_TRANSLATED -en nl HP:0032604 IAO:0000115 Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration NOT_TRANSLATED -en nl HP:0032605 rdfs:label High renal tubular epithelial cell N/C ratio High renal tubular epithelial cell N/C ratio NOT_TRANSLATED -en nl HP:0032605 IAO:0000115 At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei NOT_TRANSLATED -en nl HP:0032606 rdfs:label Renal tubular epithelial lipofuscin Renal tubular epithelial lipofuscin NOT_TRANSLATED -en nl HP:0032606 IAO:0000115 Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules NOT_TRANSLATED -en nl HP:0032607 rdfs:label Renal tubular epithelial cell swelling Renal tubular epithelial cell swelling NOT_TRANSLATED -en nl HP:0032607 IAO:0000115 Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen NOT_TRANSLATED -en nl HP:0032608 rdfs:label Thyroidization-type tubular atrophy Thyroidization-type tubular atrophy NOT_TRANSLATED -en nl HP:0032608 IAO:0000115 A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts NOT_TRANSLATED -en nl HP:0032609 rdfs:label Endocrine-type tubular atrophy Endocrine-type tubular atrophy NOT_TRANSLATED -en nl HP:0032609 IAO:0000115 A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes NOT_TRANSLATED -en nl HP:0032610 rdfs:label Tubulointerstitial mycobacterial infiltration Tubulointerstitial mycobacterial infiltration NOT_TRANSLATED -en nl HP:0032610 IAO:0000115 Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation NOT_TRANSLATED -en nl HP:0032611 rdfs:label Renal tubular epithelial cell hemosiderin Renal tubular epithelial cell hemosiderin NOT_TRANSLATED -en nl HP:0032611 IAO:0000115 Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment NOT_TRANSLATED -en nl HP:0032612 rdfs:label Triphalangeal hallux Triphalangeal hallux NOT_TRANSLATED -en nl HP:0032612 IAO:0000115 A hallux (big toe) with three phalanges in a single, proximo-distal axis A hallux (big toe) with three phalanges in a single, proximo-distal axis NOT_TRANSLATED -en nl HP:0032613 rdfs:label Renal interstitial amyloid deposits Renal interstitial amyloid deposits NOT_TRANSLATED -en nl HP:0032613 IAO:0000115 Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation NOT_TRANSLATED -en nl HP:0032614 rdfs:label Renal glomerular amyloid deposition Renal glomerular amyloid deposition NOT_TRANSLATED -en nl HP:0032614 IAO:0000115 Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries NOT_TRANSLATED -en nl HP:0032615 rdfs:label Abnormal diffusion weighted cerebral MRI morphology Abnormal diffusion weighted cerebral MRI morphology NOT_TRANSLATED -en nl HP:0032615 IAO:0000115 A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images NOT_TRANSLATED -en nl HP:0032616 rdfs:label Renal interstitial immunoglobulin deposits Renal interstitial immunoglobulin deposits NOT_TRANSLATED -en nl HP:0032616 IAO:0000115 Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining) Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining) NOT_TRANSLATED -en nl HP:0032617 rdfs:label Renal interstitial hemorrhage Renal interstitial hemorrhage NOT_TRANSLATED -en nl HP:0032617 IAO:0000115 A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core NOT_TRANSLATED -en nl HP:0032618 rdfs:label Renal necrosis Renal necrosis NOT_TRANSLATED -en nl HP:0032618 IAO:0000115 Cell death (necrosis) affecting one or more parts of the kidney Cell death (necrosis) affecting one or more parts of the kidney NOT_TRANSLATED -en nl HP:0032619 rdfs:label Perinephric abscess Perinephric abscess NOT_TRANSLATED -en nl HP:0032619 IAO:0000115 A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney) A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney) NOT_TRANSLATED -en nl HP:0032620 rdfs:label Intrarenal abscess Intrarenal abscess NOT_TRANSLATED -en nl HP:0032620 IAO:0000115 An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis NOT_TRANSLATED -en nl HP:0032621 rdfs:label Hyperchromasia of renal tubular epithelial cells Hyperchromasia of renal tubular epithelial cells NOT_TRANSLATED -en nl HP:0032621 IAO:0000115 At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes NOT_TRANSLATED -en nl HP:0032622 rdfs:label Tubular luminal dilatation Tubular luminal dilatation NOT_TRANSLATED -en nl HP:0032622 IAO:0000115 Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen NOT_TRANSLATED -en nl HP:0032623 rdfs:label Renal intratubular casts Renal intratubular casts NOT_TRANSLATED -en nl HP:0032623 IAO:0000115 Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast NOT_TRANSLATED -en nl HP:0032624 rdfs:label Intratubular bilirubin casts Intratubular bilirubin casts NOT_TRANSLATED -en nl HP:0032624 IAO:0000115 A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On HE (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green) A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On HE (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green) NOT_TRANSLATED -en nl HP:0032625 rdfs:label Intratubular erythrocyte cast Intratubular erythrocyte cast NOT_TRANSLATED -en nl HP:0032625 IAO:0000115 Casts that contain red blood cells and are located within the tubuli of the kidney Casts that contain red blood cells and are located within the tubuli of the kidney NOT_TRANSLATED -en nl HP:0032626 rdfs:label Intratubular vancomycin casts Intratubular vancomycin casts NOT_TRANSLATED -en nl HP:0032626 IAO:0000115 Intratubular casts composed of vancomycin aggregates and uromodulin Intratubular casts composed of vancomycin aggregates and uromodulin NOT_TRANSLATED -en nl HP:0032627 rdfs:label Intratubular leukocyte casts Intratubular leukocyte casts NOT_TRANSLATED -en nl HP:0032627 IAO:0000115 Casts that contain white blood cells and are located within the tubuli of the kidney Casts that contain white blood cells and are located within the tubuli of the kidney NOT_TRANSLATED -en nl HP:0032628 rdfs:label Renal intratubular crystals Renal intratubular crystals NOT_TRANSLATED -en nl HP:0032629 rdfs:label Intratubular dihydroxyadenuria crystals Intratubular dihydroxyadenuria crystals NOT_TRANSLATED -en nl HP:0032629 IAO:0000115 Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver NOT_TRANSLATED -en nl HP:0032630 rdfs:label Intratubular light-chain casts Intratubular light-chain casts NOT_TRANSLATED -en nl HP:0032630 IAO:0000115 The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules NOT_TRANSLATED -en nl HP:0032631 rdfs:label Intratubular hemoglobin casts Intratubular hemoglobin casts NOT_TRANSLATED -en nl HP:0032631 IAO:0000115 A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On HE (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On HE (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A NOT_TRANSLATED -en nl HP:0032632 rdfs:label Renal papillary necrosis Renal papillary necrosis NOT_TRANSLATED -en nl HP:0032632 IAO:0000115 Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei NOT_TRANSLATED -en nl HP:0032633 rdfs:label Intratubular hyaline casts Intratubular hyaline casts NOT_TRANSLATED -en nl HP:0032633 IAO:0000115 A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends NOT_TRANSLATED -en nl HP:0032634 rdfs:label Intratubular myoglobin cast Intratubular myoglobin cast NOT_TRANSLATED -en nl HP:0032634 IAO:0000115 Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells NOT_TRANSLATED -en nl HP:0032635 rdfs:label Tubulointerstitial microganismal infiltration Tubulointerstitial microganismal infiltration NOT_TRANSLATED -en nl HP:0032635 IAO:0000115 Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain NOT_TRANSLATED -en nl HP:0032636 rdfs:label Tubulointerstitial viral infiltration Tubulointerstitial viral infiltration NOT_TRANSLATED -en nl HP:0032636 IAO:0000115 Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry NOT_TRANSLATED -en nl HP:0032637 rdfs:label Renal interstitial edema Renal interstitial edema NOT_TRANSLATED -en nl HP:0032637 IAO:0000115 Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density NOT_TRANSLATED -en nl HP:0032638 rdfs:label Elevated urine mevalonic acid level Elevated urine mevalonic acid level NOT_TRANSLATED -en nl HP:0032638 IAO:0000115 An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid NOT_TRANSLATED -en nl HP:0032639 rdfs:label Elevated leukocyte cystine Elevated leukocyte cystine NOT_TRANSLATED -en nl HP:0032639 IAO:0000115 An increased concentration of cystine within white blood cells An increased concentration of cystine within white blood cells NOT_TRANSLATED -en nl HP:0032640 rdfs:label Elevated circulating CCL18 level Elevated circulating CCL18 level NOT_TRANSLATED -en nl HP:0032640 IAO:0000115 An increased concentration of C-C motif chemokine ligand 18 in the blood circulation An increased concentration of C-C motif chemokine ligand 18 in the blood circulation NOT_TRANSLATED -en nl HP:0032641 rdfs:label Renal interstitial granulomas Renal interstitial granulomas NOT_TRANSLATED -en nl HP:0032641 IAO:0000115 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present NOT_TRANSLATED -en nl HP:0032642 rdfs:label Renal interstitial necrotizing granulomas Renal interstitial necrotizing granulomas NOT_TRANSLATED -en nl HP:0032642 IAO:0000115 An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation NOT_TRANSLATED -en nl HP:0032643 rdfs:label Renal interstitial non-necrotizing granulomas Renal interstitial non-necrotizing granulomas NOT_TRANSLATED -en nl HP:0032643 IAO:0000115 Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis NOT_TRANSLATED -en nl HP:0032644 rdfs:label Renal interstitial deposits Renal interstitial deposits NOT_TRANSLATED -en nl HP:0032644 IAO:0000115 Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney NOT_TRANSLATED -en nl HP:0032645 rdfs:label Renal interstitial mononuclear cell infiltration Renal interstitial mononuclear cell infiltration NOT_TRANSLATED -en nl HP:0032645 IAO:0000115 Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei) Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei) NOT_TRANSLATED -en nl HP:0032646 rdfs:label Renal interstitial xanthogranulomatous inflammation Renal interstitial xanthogranulomatous inflammation NOT_TRANSLATED -en nl HP:0032646 IAO:0000115 Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells NOT_TRANSLATED -en nl HP:0032647 rdfs:label Renal tubular epithelial cell apoptosis Renal tubular epithelial cell apoptosis NOT_TRANSLATED -en nl HP:0032647 IAO:0000115 Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris NOT_TRANSLATED -en nl HP:0032648 rdfs:label Tubularization of Bowman capsule Tubularization of Bowman capsule NOT_TRANSLATED -en nl HP:0032648 IAO:0000115 The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus NOT_TRANSLATED -en nl HP:0032649 rdfs:label Skewfoot Skewfoot NOT_TRANSLATED -en nl HP:0032649 IAO:0000115 A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus NOT_TRANSLATED -en nl HP:0032650 rdfs:label Elevated CSF glial fibrillary acidic protein concentration Elevated CSF glial fibrillary acidic protein concentration NOT_TRANSLATED -en nl HP:0032650 IAO:0000115 Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0032651 rdfs:label Elevated CSF chitinase-3-like protein 1 concentration Elevated CSF chitinase-3-like protein 1 concentration NOT_TRANSLATED -en nl HP:0032651 IAO:0000115 Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0032652 rdfs:label Elevated CSF chitotriosidase 1 concentration Elevated CSF chitotriosidase 1 concentration NOT_TRANSLATED -en nl HP:0032652 IAO:0000115 Increased concentration of chitotriosidase 1 in cerebrospinal fluid Increased concentration of chitotriosidase 1 in cerebrospinal fluid NOT_TRANSLATED -en nl HP:0032653 rdfs:label Elevated lactate:pyruvate ratio Elevated lactate:pyruvate ratio NOT_TRANSLATED -en nl HP:0032653 IAO:0000115 An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation NOT_TRANSLATED -en nl HP:0032654 rdfs:label Impaired flow-mediated arterial dilatation Impaired flow-mediated arterial dilatation NOT_TRANSLATED -en nl HP:0032654 IAO:0000115 Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery NOT_TRANSLATED -en nl HP:0032655 rdfs:label Decreased adipose tissue tocopherol level Decreased adipose tissue tocopherol level NOT_TRANSLATED -en nl HP:0032655 IAO:0000115 A reduced concentration of tocopherol in fat tissue A reduced concentration of tocopherol in fat tissue NOT_TRANSLATED -en nl HP:0032656 rdfs:label Febrile status epilepticus Febrile status epilepticus NOT_TRANSLATED -en nl HP:0032656 IAO:0000115 A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult NOT_TRANSLATED -en nl HP:0032657 rdfs:label Elevated circulating lyso-globotriaosylsphingosine concentration Elevated circulating lyso-globotriaosylsphingosine concentration NOT_TRANSLATED -en nl HP:0032657 IAO:0000115 An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation NOT_TRANSLATED -en nl HP:0032658 rdfs:label Status epilepticus with prominent motor symptoms Status epilepticus with prominent motor symptoms NOT_TRANSLATED -en nl HP:0032658 IAO:0000115 Status epilepticus with prominent motor signs during the prolonged seizure Status epilepticus with prominent motor signs during the prolonged seizure NOT_TRANSLATED -en nl HP:0032659 rdfs:label Non-convulsive status epilepticus with coma Non-convulsive status epilepticus with coma NOT_TRANSLATED -en nl HP:0032659 IAO:0000115 A type of status epilepticus without prominent motor symptoms and in the presence of coma A type of status epilepticus without prominent motor symptoms and in the presence of coma NOT_TRANSLATED -en nl HP:0032660 rdfs:label Convulsive status epilepticus Convulsive status epilepticus NOT_TRANSLATED -en nl HP:0032660 IAO:0000115 A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus NOT_TRANSLATED -en nl HP:0032661 rdfs:label Generalized convulsive status epilepticus Generalized convulsive status epilepticus NOT_TRANSLATED -en nl HP:0032661 IAO:0000115 A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus NOT_TRANSLATED -en nl HP:0032662 rdfs:label Focal-onset seizure evolving into bilateral convulsive status epilepticus Focal-onset seizure evolving into bilateral convulsive status epilepticus NOT_TRANSLATED -en nl HP:0032662 IAO:0000115 A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus NOT_TRANSLATED -en nl HP:0032663 rdfs:label Focal motor status epilepticus Focal motor status epilepticus NOT_TRANSLATED -en nl HP:0032663 IAO:0000115 Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement NOT_TRANSLATED -en nl HP:0032664 rdfs:label Adversive status epilepticus Adversive status epilepticus NOT_TRANSLATED -en nl HP:0032664 IAO:0000115 A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus NOT_TRANSLATED -en nl HP:0032665 rdfs:label Repeated focal motor seizures Repeated focal motor seizures NOT_TRANSLATED -en nl HP:0032665 IAO:0000115 A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus NOT_TRANSLATED -en nl HP:0032666 rdfs:label Hyperkinetic status epilepticus Hyperkinetic status epilepticus NOT_TRANSLATED -en nl HP:0032666 IAO:0000115 Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements NOT_TRANSLATED -en nl HP:0032667 rdfs:label Myoclonic status epilepticus Myoclonic status epilepticus NOT_TRANSLATED -en nl HP:0032667 IAO:0000115 A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography NOT_TRANSLATED -en nl HP:0032668 rdfs:label Myoclonic status epilepticus without coma Myoclonic status epilepticus without coma NOT_TRANSLATED -en nl HP:0032668 IAO:0000115 A type of myoclonic status epilepticus in the absence of coma A type of myoclonic status epilepticus in the absence of coma NOT_TRANSLATED -en nl HP:0032669 rdfs:label Myoclonic status epilepticus with coma Myoclonic status epilepticus with coma NOT_TRANSLATED -en nl HP:0032669 IAO:0000115 A type of myoclonic status epilepticus in the presence of coma A type of myoclonic status epilepticus in the presence of coma NOT_TRANSLATED -en nl HP:0032670 rdfs:label Tonic status epilepticus Tonic status epilepticus NOT_TRANSLATED -en nl HP:0032670 IAO:0000115 Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal NOT_TRANSLATED -en nl HP:0032671 rdfs:label Non-convulsive status epilepticus without coma Non-convulsive status epilepticus without coma NOT_TRANSLATED -en nl HP:0032671 IAO:0000115 A type of status epilepticus without prominent motor symptoms in the absence of coma A type of status epilepticus without prominent motor symptoms in the absence of coma NOT_TRANSLATED -en nl HP:0032672 rdfs:label Autonomic status epilepticus Autonomic status epilepticus NOT_TRANSLATED -en nl HP:0032672 IAO:0000115 Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal NOT_TRANSLATED -en nl HP:0032673 rdfs:label Focal non-convulsive status epilepticus without coma Focal non-convulsive status epilepticus without coma NOT_TRANSLATED -en nl HP:0032673 IAO:0000115 Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure NOT_TRANSLATED -en nl HP:0032674 rdfs:label Cutaneous wound Cutaneous wound NOT_TRANSLATED -en nl HP:0032674 IAO:0000115 A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time NOT_TRANSLATED -en nl HP:0032675 rdfs:label Acute cutaneous wound Acute cutaneous wound NOT_TRANSLATED -en nl HP:0032675 IAO:0000115 A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin NOT_TRANSLATED -en nl HP:0032676 rdfs:label Chronic cutaneous wound Chronic cutaneous wound NOT_TRANSLATED -en nl HP:0032676 IAO:0000115 A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result NOT_TRANSLATED -en nl HP:0032677 rdfs:label Generalized-onset motor seizure Generalized-onset motor seizure NOT_TRANSLATED -en nl HP:0032677 IAO:0000115 A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement NOT_TRANSLATED -en nl HP:0032678 rdfs:label Eyelid myoclonia seizure Eyelid myoclonia seizure NOT_TRANSLATED -en nl HP:0032678 IAO:0000115 An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness NOT_TRANSLATED -en nl HP:0032679 rdfs:label Focal non-motor seizure Focal non-motor seizure NOT_TRANSLATED -en nl HP:0032679 IAO:0000115 A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation NOT_TRANSLATED -en nl HP:0032680 rdfs:label Focal cognitive seizure Focal cognitive seizure NOT_TRANSLATED -en nl HP:0032680 IAO:0000115 A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure NOT_TRANSLATED -en nl HP:0032681 rdfs:label Focal aware cognitive seizure Focal aware cognitive seizure NOT_TRANSLATED -en nl HP:0032681 IAO:0000115 A focal aware cognitive seizure during which awareness is retained throughout the seizure A focal aware cognitive seizure during which awareness is retained throughout the seizure NOT_TRANSLATED -en nl HP:0032682 rdfs:label Focal aware non-motor seizure Focal aware non-motor seizure NOT_TRANSLATED -en nl HP:0032682 IAO:0000115 A focal non-motor seizure in which awareness is retained throughout the seizure A focal non-motor seizure in which awareness is retained throughout the seizure NOT_TRANSLATED -en nl HP:0032684 rdfs:label Focal aware cognitive seizure with auditory agnosia Focal aware cognitive seizure with auditory agnosia NOT_TRANSLATED -en nl HP:0032684 IAO:0000115 A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032685 rdfs:label Focal cognitive seizure with auditory agnosia Focal cognitive seizure with auditory agnosia NOT_TRANSLATED -en nl HP:0032685 IAO:0000115 A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing NOT_TRANSLATED -en nl HP:0032686 rdfs:label Focal aware cognitive seizure with memory impairment Focal aware cognitive seizure with memory impairment NOT_TRANSLATED -en nl HP:0032686 IAO:0000115 A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032687 rdfs:label Focal cognitive seizure with memory impairment Focal cognitive seizure with memory impairment NOT_TRANSLATED -en nl HP:0032687 IAO:0000115 A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia) A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia) NOT_TRANSLATED -en nl HP:0032688 rdfs:label Focal aware cognitive seizure with dissociation Focal aware cognitive seizure with dissociation NOT_TRANSLATED -en nl HP:0032688 IAO:0000115 A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032689 rdfs:label Focal cognitive seizure with dissociation Focal cognitive seizure with dissociation NOT_TRANSLATED -en nl HP:0032689 IAO:0000115 A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032690 rdfs:label Focal aware cognitive seizure with dyscalculia/acalculia Focal aware cognitive seizure with dyscalculia/acalculia NOT_TRANSLATED -en nl HP:0032690 IAO:0000115 A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032691 rdfs:label Focal cognitive seizure with dyscalculia/acalculia Focal cognitive seizure with dyscalculia/acalculia NOT_TRANSLATED -en nl HP:0032691 IAO:0000115 A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032692 rdfs:label Focal cognitive seizure with forced thinking Focal cognitive seizure with forced thinking NOT_TRANSLATED -en nl HP:0032692 IAO:0000115 A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032693 rdfs:label Focal cognitive seizure with neglect Focal cognitive seizure with neglect NOT_TRANSLATED -en nl HP:0032693 IAO:0000115 A focal cognitive seizure characterized by neglect as the initial semiological manifestation A focal cognitive seizure characterized by neglect as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032694 rdfs:label Focal cognitive seizure with dyslexia/alexia Focal cognitive seizure with dyslexia/alexia NOT_TRANSLATED -en nl HP:0032694 IAO:0000115 A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032696 rdfs:label Focal cognitive seizure with receptive dysphasia/aphasia Focal cognitive seizure with receptive dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032696 IAO:0000115 A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032698 rdfs:label Focal cognitive seizure with conduction dysphasia/aphasia Focal cognitive seizure with conduction dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032698 IAO:0000115 A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032699 rdfs:label Focal cognitive seizure with dysgraphia/agraphia Focal cognitive seizure with dysgraphia/agraphia NOT_TRANSLATED -en nl HP:0032699 IAO:0000115 A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032700 rdfs:label Focal cognitive seizure with left-right confusion Focal cognitive seizure with left-right confusion NOT_TRANSLATED -en nl HP:0032700 IAO:0000115 A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032701 rdfs:label Focal cognitive seizure with anomia Focal cognitive seizure with anomia NOT_TRANSLATED -en nl HP:0032701 IAO:0000115 A focal cognitive seizure characterized by anomia as the initial semiological manifestation A focal cognitive seizure characterized by anomia as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032702 rdfs:label Focal cognitive seizure with expressive dysphasia/aphasia Focal cognitive seizure with expressive dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032702 IAO:0000115 A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032704 rdfs:label Focal aware cognitive seizure with illusion Focal aware cognitive seizure with illusion NOT_TRANSLATED -en nl HP:0032704 IAO:0000115 A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032705 rdfs:label Focal aware cognitive seizure with forced thinking Focal aware cognitive seizure with forced thinking NOT_TRANSLATED -en nl HP:0032705 IAO:0000115 A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032706 rdfs:label Focal aware cognitive seizure with left-right confusion Focal aware cognitive seizure with left-right confusion NOT_TRANSLATED -en nl HP:0032706 IAO:0000115 A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032707 rdfs:label Focal aware cognitive seizure with dyslexia/alexia Focal aware cognitive seizure with dyslexia/alexia NOT_TRANSLATED -en nl HP:0032707 IAO:0000115 A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032708 rdfs:label Focal aware cognitive seizure with anomia Focal aware cognitive seizure with anomia NOT_TRANSLATED -en nl HP:0032708 IAO:0000115 A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032709 rdfs:label Focal aware cognitive seizure with dysgraphia/agraphia Focal aware cognitive seizure with dysgraphia/agraphia NOT_TRANSLATED -en nl HP:0032709 IAO:0000115 A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032710 rdfs:label Focal aware cognitive seizure with receptive dysphasia/aphasia Focal aware cognitive seizure with receptive dysphasia/aphasia NOT_TRANSLATED -en nl HP:0032710 IAO:0000115 A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032711 rdfs:label Focal aware clonic seizure Focal aware clonic seizure NOT_TRANSLATED -en nl HP:0032711 IAO:0000115 A type of focal clonic seizure during which awareness is fully retained throughout A type of focal clonic seizure during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0032712 rdfs:label Focal impaired awareness motor seizure Focal impaired awareness motor seizure NOT_TRANSLATED -en nl HP:0032712 IAO:0000115 A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032713 rdfs:label Focal impaired awareness motor seizure with version Focal impaired awareness motor seizure with version NOT_TRANSLATED -en nl HP:0032713 IAO:0000115 A focal motor seizure with version characterized by impaired awareness at some point during the seizure A focal motor seizure with version characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0032714 rdfs:label Focal impaired awareness bilateral motor seizure Focal impaired awareness bilateral motor seizure NOT_TRANSLATED -en nl HP:0032714 IAO:0000115 A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0032715 rdfs:label Focal bilateral motor seizure Focal bilateral motor seizure NOT_TRANSLATED -en nl HP:0032715 IAO:0000115 A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset NOT_TRANSLATED -en nl HP:0032716 rdfs:label Focal impaired awareness non-motor seizure Focal impaired awareness non-motor seizure NOT_TRANSLATED -en nl HP:0032716 IAO:0000115 A focal non-motor seizure characterized by impaired awareness at some point during the seizure A focal non-motor seizure characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0032717 rdfs:label Focal impaired awareness motor seizure with dystonia Focal impaired awareness motor seizure with dystonia NOT_TRANSLATED -en nl HP:0032717 IAO:0000115 A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0032718 rdfs:label Focal motor seizure with dystonia Focal motor seizure with dystonia NOT_TRANSLATED -en nl HP:0032718 IAO:0000115 A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures NOT_TRANSLATED -en nl HP:0032719 rdfs:label Focal impaired awareness motor seizure with dysarthria/anarthria Focal impaired awareness motor seizure with dysarthria/anarthria NOT_TRANSLATED -en nl HP:0032719 IAO:0000115 A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure NOT_TRANSLATED -en nl HP:0032720 rdfs:label Focal motor seizure with dysarthria/anarthria Focal motor seizure with dysarthria/anarthria NOT_TRANSLATED -en nl HP:0032720 IAO:0000115 A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible NOT_TRANSLATED -en nl HP:0032721 rdfs:label Focal motor seizure with paresis/paralysis Focal motor seizure with paresis/paralysis NOT_TRANSLATED -en nl HP:0032721 IAO:0000115 A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation NOT_TRANSLATED -en nl HP:0032722 rdfs:label Focal aware tonic seizure Focal aware tonic seizure NOT_TRANSLATED -en nl HP:0032722 IAO:0000115 A type of focal tonic seizure during which awareness is fully retained throughout A type of focal tonic seizure during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0032723 rdfs:label Focal aware motor seizure with dystonia Focal aware motor seizure with dystonia NOT_TRANSLATED -en nl HP:0032723 IAO:0000115 A focal motor seizure with dystonia characterized by retained awareness throughout the seizure A focal motor seizure with dystonia characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032724 rdfs:label Focal impaired awareness tonic seizure Focal impaired awareness tonic seizure NOT_TRANSLATED -en nl HP:0032724 IAO:0000115 A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032725 rdfs:label Focal impaired awareness clonic seizure Focal impaired awareness clonic seizure NOT_TRANSLATED -en nl HP:0032725 IAO:0000115 A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure NOT_TRANSLATED -en nl HP:0032726 rdfs:label Focal impaired awareness hyperkinetic seizure Focal impaired awareness hyperkinetic seizure NOT_TRANSLATED -en nl HP:0032726 IAO:0000115 A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032727 rdfs:label Focal emotional seizure with agitation Focal emotional seizure with agitation NOT_TRANSLATED -en nl HP:0032727 IAO:0000115 Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures NOT_TRANSLATED -en nl HP:0032728 rdfs:label Focal impaired awareness atonic seizure Focal impaired awareness atonic seizure NOT_TRANSLATED -en nl HP:0032728 IAO:0000115 A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032729 rdfs:label Focal emotional seizure with pleasure Focal emotional seizure with pleasure NOT_TRANSLATED -en nl HP:0032729 IAO:0000115 Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy NOT_TRANSLATED -en nl HP:0032730 rdfs:label Focal impaired awareness myoclonic seizure Focal impaired awareness myoclonic seizure NOT_TRANSLATED -en nl HP:0032730 IAO:0000115 A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032731 rdfs:label Focal aware hyperkinetic seizure Focal aware hyperkinetic seizure NOT_TRANSLATED -en nl HP:0032731 IAO:0000115 A type of focal hypermotor seizure during which awareness is fully retained throughout A type of focal hypermotor seizure during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0032732 rdfs:label Focal aware motor seizure with paresis/paralysis Focal aware motor seizure with paresis/paralysis NOT_TRANSLATED -en nl HP:0032732 IAO:0000115 A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032733 rdfs:label Focal aware motor seizure with dysarthria/anarthria Focal aware motor seizure with dysarthria/anarthria NOT_TRANSLATED -en nl HP:0032733 IAO:0000115 A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032734 rdfs:label Focal aware emotional seizure Focal aware emotional seizure NOT_TRANSLATED -en nl HP:0032734 IAO:0000115 A focal emotional seizure during which awareness is retained throughout the seizure A focal emotional seizure during which awareness is retained throughout the seizure NOT_TRANSLATED -en nl HP:0032735 rdfs:label Focal aware emotional seizure with anger Focal aware emotional seizure with anger NOT_TRANSLATED -en nl HP:0032735 IAO:0000115 Focal emotional seizure with anger in which awareness is retained throughout Focal emotional seizure with anger in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032736 rdfs:label Focal emotional seizure with anger Focal emotional seizure with anger NOT_TRANSLATED -en nl HP:0032736 IAO:0000115 Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour NOT_TRANSLATED -en nl HP:0032737 rdfs:label Focal emotional seizure with paranoia Focal emotional seizure with paranoia NOT_TRANSLATED -en nl HP:0032737 IAO:0000115 Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure NOT_TRANSLATED -en nl HP:0032738 rdfs:label Focal aware emotional seizure with fear/anxiety/panic Focal aware emotional seizure with fear/anxiety/panic NOT_TRANSLATED -en nl HP:0032738 IAO:0000115 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032739 rdfs:label Focal emotional seizure with fear/anxiety/panic Focal emotional seizure with fear/anxiety/panic NOT_TRANSLATED -en nl HP:0032739 IAO:0000115 Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures NOT_TRANSLATED -en nl HP:0032740 rdfs:label Focal aware autonomic seizure Focal aware autonomic seizure NOT_TRANSLATED -en nl HP:0032740 IAO:0000115 A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout NOT_TRANSLATED -en nl HP:0032741 rdfs:label Focal aware emotional seizure with paranoia Focal aware emotional seizure with paranoia NOT_TRANSLATED -en nl HP:0032741 IAO:0000115 Focal emotional seizure with paranoia in which awareness is retained throughout Focal emotional seizure with paranoia in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032742 rdfs:label Focal aware emotional seizure with pleasure Focal aware emotional seizure with pleasure NOT_TRANSLATED -en nl HP:0032742 IAO:0000115 Focal emotional seizure with pleasure in which awareness is retained throughout Focal emotional seizure with pleasure in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032743 rdfs:label Focal aware emotional seizure with crying Focal aware emotional seizure with crying NOT_TRANSLATED -en nl HP:0032743 IAO:0000115 Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032744 rdfs:label Focal aware emotional seizure with agitation Focal aware emotional seizure with agitation NOT_TRANSLATED -en nl HP:0032744 IAO:0000115 Focal emotional seizure with agitation in which awareness is retained throughout Focal emotional seizure with agitation in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032745 rdfs:label Focal aware emotional seizure with laughing Focal aware emotional seizure with laughing NOT_TRANSLATED -en nl HP:0032745 IAO:0000115 Focal emotional seizure with laughing in which awareness is retained throughout Focal emotional seizure with laughing in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032746 rdfs:label Focal impaired awareness emotional seizure Focal impaired awareness emotional seizure NOT_TRANSLATED -en nl HP:0032746 IAO:0000115 A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032747 rdfs:label Focal impaired awareness emotional seizure with pleasure Focal impaired awareness emotional seizure with pleasure NOT_TRANSLATED -en nl HP:0032747 IAO:0000115 Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032748 rdfs:label Focal impaired awareness emotional seizure with anger Focal impaired awareness emotional seizure with anger NOT_TRANSLATED -en nl HP:0032748 IAO:0000115 Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032749 rdfs:label Focal impaired awareness emotional seizure with paranoia Focal impaired awareness emotional seizure with paranoia NOT_TRANSLATED -en nl HP:0032749 IAO:0000115 Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032750 rdfs:label Focal impaired awareness emotional seizure with laughing Focal impaired awareness emotional seizure with laughing NOT_TRANSLATED -en nl HP:0032750 IAO:0000115 Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032751 rdfs:label Focal impaired awareness emotional seizure with crying Focal impaired awareness emotional seizure with crying NOT_TRANSLATED -en nl HP:0032751 IAO:0000115 Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032752 rdfs:label Focal impaired awareness emotional seizure with fear/anxiety/panic Focal impaired awareness emotional seizure with fear/anxiety/panic NOT_TRANSLATED -en nl HP:0032752 IAO:0000115 Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032753 rdfs:label Focal impaired awareness emotional seizure with agitation Focal impaired awareness emotional seizure with agitation NOT_TRANSLATED -en nl HP:0032753 IAO:0000115 A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032754 rdfs:label Focal aware sensory seizure Focal aware sensory seizure NOT_TRANSLATED -en nl HP:0032754 IAO:0000115 A focal sensory seizure during which awareness is retained throughout the seizure A focal sensory seizure during which awareness is retained throughout the seizure NOT_TRANSLATED -en nl HP:0032755 rdfs:label Focal impaired awareness autonomic seizure Focal impaired awareness autonomic seizure NOT_TRANSLATED -en nl HP:0032755 IAO:0000115 A focal autonomic seizure characterised by impaired awareness at some point within the seizure A focal autonomic seizure characterised by impaired awareness at some point within the seizure NOT_TRANSLATED -en nl HP:0032756 rdfs:label Focal impaired awareness cognitive seizure Focal impaired awareness cognitive seizure NOT_TRANSLATED -en nl HP:0032756 IAO:0000115 A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED -en nl HP:0032757 rdfs:label Focal aware hemiclonic seizure Focal aware hemiclonic seizure NOT_TRANSLATED -en nl HP:0032757 IAO:0000115 A focal hemiclonic seizure in which awareness is retained throughout A focal hemiclonic seizure in which awareness is retained throughout NOT_TRANSLATED -en nl HP:0032758 rdfs:label Focal aware myoclonic seizure Focal aware myoclonic seizure NOT_TRANSLATED -en nl HP:0032758 IAO:0000115 A type of focal myoclonic seizure during which awareness is fully retained throughout A type of focal myoclonic seizure during which awareness is fully retained throughout NOT_TRANSLATED -en nl HP:0032759 rdfs:label Focal sensory seizure with vestibular features Focal sensory seizure with vestibular features NOT_TRANSLATED -en nl HP:0032759 IAO:0000115 A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation NOT_TRANSLATED -en nl HP:0032760 rdfs:label Focal sensory seizure with hot-cold sensations Focal sensory seizure with hot-cold sensations NOT_TRANSLATED -en nl HP:0032760 IAO:0000115 A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation NOT_TRANSLATED -en nl HP:0032761 rdfs:label Focal aware autonomic seizure with pallor/flushing Focal aware autonomic seizure with pallor/flushing NOT_TRANSLATED -en nl HP:0032761 IAO:0000115 A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure NOT_TRANSLATED -en nl HP:0032762 rdfs:label Focal autonomic seizure with pallor/flushing Focal autonomic seizure with pallor/flushing NOT_TRANSLATED -en nl HP:0032762 IAO:0000115 A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature NOT_TRANSLATED -en nl HP:0032763 rdfs:label Focal autonomic seizure with pupillary dilation/constriction Focal autonomic seizure with pupillary dilation/constriction NOT_TRANSLATED -en nl HP:0032763 IAO:0000115 A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature NOT_TRANSLATED -en nl HP:0032764 rdfs:label Focal autonomic seizure with erection Focal autonomic seizure with erection NOT_TRANSLATED -en nl HP:0032764 IAO:0000115 A type of focal autonomic seizure characterised by penile erection as the intial semiological feature A type of focal autonomic seizure characterised by penile erection as the intial semiological feature NOT_TRANSLATED -en nl HP:0032765 rdfs:label Focal autonomic seizure with urge to urinate/defecate Focal autonomic seizure with urge to urinate/defecate NOT_TRANSLATED -en nl HP:0032765 IAO:0000115 A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature NOT_TRANSLATED -en nl HP:0032766 rdfs:label Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration NOT_TRANSLATED -en nl HP:0032766 IAO:0000115 A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature NOT_TRANSLATED -en nl HP:0032767 rdfs:label Focal autonomic seizure with piloerection Focal autonomic seizure with piloerection NOT_TRANSLATED -en nl HP:0032767 IAO:0000115 A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature NOT_TRANSLATED +source_language source_value subject_id predicate_id translation_language translation_value translation_status translator translator_expertise translation_date +en "A Lamellar cataract with a pulverulent (punctate, ""dust-like"" opacities) appearance" HP:0010694 IAO:0000115 nl "A Lamellar cataract with a pulverulent (punctate, ""dust-like"" opacities) appearance" NOT_TRANSLATED +en "A defect of the chest wall characterized by a depression of the sternum, giving the chest (""pectus"") a caved-in (""excavatum"") appearance" HP:0000767 IAO:0000115 nl "A defect of the chest wall characterized by a depression of the sternum, giving the chest (""pectus"") a caved-in (""excavatum"") appearance" NOT_TRANSLATED +en "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to ""short stature"" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)" HP:0004322 IAO:0000115 nl "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to ""short stature"" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)" NOT_TRANSLATED +en "A left-right reversal (or ""mirror reflection"") of the anatomical location of the major thoracic and abdominal organs" HP:0001696 IAO:0000115 nl "A left-right reversal (or ""mirror reflection"") of the anatomical location of the major thoracic and abdominal organs" NOT_TRANSLATED +en "A left-right reversal (or ""mirror reflection"") of the anatomical location of the viscera of the abdomen" HP:0003363 IAO:0000115 nl "A left-right reversal (or ""mirror reflection"") of the anatomical location of the viscera of the abdomen" NOT_TRANSLATED +en "A nodular lesion that develops in the thyroid gland. The term ""thyroid nodule"" refers to any abnormal growth that forms a lump in the thyroid gland" HP:0025388 IAO:0000115 nl "A nodular lesion that develops in the thyroid gland. The term ""thyroid nodule"" refers to any abnormal growth that forms a lump in the thyroid gland" NOT_TRANSLATED +en "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or ""false joint"")" HP:0005864 IAO:0000115 nl "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or ""false joint"")" NOT_TRANSLATED +en "A soft tissue prominence of the ventral aspects of the fingertips. The term ""persistent fetal fingertip pads"" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist" HP:0001212 IAO:0000115 nl "A soft tissue prominence of the ventral aspects of the fingertips. The term ""persistent fetal fingertip pads"" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist" NOT_TRANSLATED +en "A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a ""solid"" appearance" HP:0033609 IAO:0000115 nl "A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a ""solid"" appearance" NOT_TRANSLATED +en "Abnormally long and slender fingers (""spider fingers"")" HP:0001166 IAO:0000115 nl "Abnormally long and slender fingers (""spider fingers"")" NOT_TRANSLATED +en "An abnormal union between bones or parts of bones of the fingers. The synonymous term ""symphalangism of the hand"" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as ""Symphalangism"" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as ""bony"" Syndactyly" HP:0009700 IAO:0000115 nl "An abnormal union between bones or parts of bones of the fingers. The synonymous term ""symphalangism of the hand"" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as ""Symphalangism"" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as ""bony"" Syndactyly" NOT_TRANSLATED +en "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. ""Buccal"" means relating to the cheek. The cheek is part of the midface" HP:0004426 IAO:0000115 nl "An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. ""Buccal"" means relating to the cheek. The cheek is part of the midface" NOT_TRANSLATED +en "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term ""fibroblastic"" or ""fibromatous"" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors" HP:0010614 IAO:0000115 nl "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term ""fibroblastic"" or ""fibromatous"" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors" NOT_TRANSLATED +en "Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is ""cloudy"". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously" HP:0033630 IAO:0000115 nl "Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is ""cloudy"". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously" NOT_TRANSLATED +en "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a ""mitten"" hand deformity" HP:0004057 IAO:0000115 nl "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a ""mitten"" hand deformity" NOT_TRANSLATED +en "Hypomelanotic macules (""ash leaf spots"") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis" HP:0009719 IAO:0000115 nl "Hypomelanotic macules (""ash leaf spots"") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis" NOT_TRANSLATED +en "Infantile spasms represent a subset of ""epileptic spasms"". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)" HP:0012469 IAO:0000115 nl "Infantile spasms represent a subset of ""epileptic spasms"". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)" NOT_TRANSLATED +en "Nephrosclerosis refers to thickening or scarring (""sclerosis"") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries" HP:0009741 IAO:0000115 nl "Nephrosclerosis refers to thickening or scarring (""sclerosis"") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries" NOT_TRANSLATED +en "Pseudarthrosis, or ""false joint"" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life" HP:0009736 IAO:0000115 nl "Pseudarthrosis, or ""false joint"" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life" NOT_TRANSLATED +en "Purpura (from Latin: purpura, meaning ""purple"") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae" HP:0000979 IAO:0000115 nl "Purpura (from Latin: purpura, meaning ""purple"") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae" NOT_TRANSLATED +en "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an ""up and out"" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg" HP:0001884 IAO:0000115 nl "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an ""up and out"" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg" NOT_TRANSLATED +en "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a ""metopic suture""" HP:0005556 IAO:0000115 nl "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a ""metopic suture""" NOT_TRANSLATED +en "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or ""mirror reflection"") of the anatomical location of the heart in which the heart is locate on the right side instead of the left" HP:0001651 IAO:0000115 nl "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or ""mirror reflection"") of the anatomical location of the heart in which the heart is locate on the right side instead of the left" NOT_TRANSLATED +en "The presence of a depressed line (""canal"") in the center of the nail" HP:0030818 IAO:0000115 nl "The presence of a depressed line (""canal"") in the center of the nail" NOT_TRANSLATED +en "The presence of short and wide 1st metacarpal which tapers distally (""bullet shaped"")" HP:0010028 IAO:0000115 nl "The presence of short and wide 1st metacarpal which tapers distally (""bullet shaped"")" NOT_TRANSLATED +en "The presence of short and wide phalanges which taper distally (""bullet shaped"")" HP:0009769 IAO:0000115 nl "The presence of short and wide phalanges which taper distally (""bullet shaped"")" NOT_TRANSLATED +en "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as ""symphalangism""" HP:0001159 IAO:0000115 nl "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as ""symphalangism""" NOT_TRANSLATED +en "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" HP:0010492 IAO:0000115 nl "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED +en "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" HP:0006101 IAO:0000115 nl "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED +en "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" HP:0010717 IAO:0000115 nl "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED +en "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" HP:0001770 IAO:0000115 nl "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism""" NOT_TRANSLATED +en 1-2 finger syndactyly HP:0010704 rdfs:label nl 1-2 vingersyndactylie CANDIDATE +en 1-2 toe complete cutaneous syndactyly HP:0005767 rdfs:label nl 1-2 teen complete cutane syndactylie CANDIDATE +en 1-2 toe syndactyly HP:0010711 rdfs:label nl 1-2 teen syndactylie CANDIDATE +en 1-3 finger syndactyly HP:0010706 rdfs:label nl 1-3 vingersyndactylie CANDIDATE +en 1-3 toe syndactyly HP:0001459 rdfs:label nl 1-3 teen syndactylie CANDIDATE +en 1-4 finger syndactyly HP:0010707 rdfs:label nl 1-4 vinger syndactylie CANDIDATE +en 1-4 toe syndactyly HP:0010712 rdfs:label nl 1-4 teen syndactylie CANDIDATE +en 1-5 finger complete cutaneous syndactyly HP:0006088 rdfs:label nl 1-5 vinger complete cutane syndactylie CANDIDATE +en 1-5 finger syndactyly HP:0010708 rdfs:label nl 1-5 vinger syndactylie CANDIDATE +en 1-5 toe syndactyly HP:0010713 rdfs:label nl 1-5 teen syndactylie CANDIDATE +en 1-minute APGAR score of 0 HP:0030927 rdfs:label nl 1-minuut APGAR score van 0 CANDIDATE +en 1-minute APGAR score of 1 HP:0030928 rdfs:label nl 1-minuut APGAR score van 1 CANDIDATE +en 1-minute APGAR score of 2 HP:0030929 rdfs:label nl 1-minuut APGAR score van 2 CANDIDATE +en 1-minute APGAR score of 3 HP:0030930 rdfs:label nl 1-minuut APGAR score van 3 CANDIDATE +en 1-minute APGAR score of 4 HP:0030931 rdfs:label nl 1-minuut APGAR score van 4 CANDIDATE +en 1-minute APGAR score of 5 HP:0030932 rdfs:label nl 1-minuut APGAR score van 5 CANDIDATE +en 1-minute APGAR score of 6 HP:0030933 rdfs:label nl 1-minuut APGAR score van 6 CANDIDATE +en 10 pairs of ribs HP:0030300 rdfs:label nl 10 paar ribben CANDIDATE +en 10-minute APGAR score of 0 HP:0033468 rdfs:label nl 10-minute APGAR score of 0 NOT_TRANSLATED +en 10-minute APGAR score of 1 HP:0033469 rdfs:label nl 10-minute APGAR score of 1 NOT_TRANSLATED +en 10-minute APGAR score of 2 HP:0033470 rdfs:label nl 10-minute APGAR score of 2 NOT_TRANSLATED +en 10-minute APGAR score of 3 HP:0033471 rdfs:label nl 10-minute APGAR score of 3 NOT_TRANSLATED +en 10-minute APGAR score of 4 HP:0033472 rdfs:label nl 10-minute APGAR score of 4 NOT_TRANSLATED +en 10-minute APGAR score of 5 HP:0033473 rdfs:label nl 10-minute APGAR score of 5 NOT_TRANSLATED +en 10-minute APGAR score of 6 HP:0033474 rdfs:label nl 10-minute APGAR score of 6 NOT_TRANSLATED +en 11 pairs of ribs HP:0000878 rdfs:label nl 11 paar ribben CANDIDATE +en 11 thoracic vertebrae HP:0030306 rdfs:label nl 11 thoracale wervels CANDIDATE +en 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure HP:0025699 IAO:0000115 nl 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure NOT_TRANSLATED +en 2,8-dihydroxyadenine crystalluria HP:0034279 rdfs:label nl 2,8-dihydroxyadenine crystalluria NOT_TRANSLATED +en 2-3 finger syndactyly HP:0001233 rdfs:label nl 2-3 vingersyndactylie CANDIDATE +en 2-3 toe cutaneous syndactyly HP:0005709 rdfs:label nl 2-3 teen cutane syndactylie CANDIDATE +en 2-3 toe syndactyly HP:0004691 rdfs:label nl 2-3 teen syndactylie CANDIDATE +en 2-3-layered lissencephaly HP:0032457 rdfs:label nl 2-3-layered lissencephaly NOT_TRANSLATED +en 2-4 finger syndactyly HP:0010709 rdfs:label nl 2-4 vinger syndactylie CANDIDATE +en 2-4 toe cutaneous syndactyly HP:0005768 rdfs:label nl 2-4 teen cutane syndactylie CANDIDATE +en 2-4 toe syndactyly HP:0010714 rdfs:label nl 2-4 teen syndactylie CANDIDATE +en 2-5 finger cutaneous syndactyly HP:0005650 rdfs:label nl Cutane syndactylie tussen vingers 2 en 5 CANDIDATE +en 2-5 finger syndactyly HP:0010692 rdfs:label nl 2-5 vinger syndactylie CANDIDATE +en 2-5 toe syndactyly HP:0010715 rdfs:label nl 2-5 teen syndactylie CANDIDATE +en 2-Methylbutyryl glycinuria HP:0020147 rdfs:label nl 2-Methylbutyryl glycinuria NOT_TRANSLATED +en 2-ethylhydracylic aciduria HP:0033220 rdfs:label nl 2-ethylhydracylic aciduria NOT_TRANSLATED +en 2-hydroxyadipic aciduria HP:0034465 rdfs:label nl 2-hydroxyadipic aciduria NOT_TRANSLATED +en 2-hydroxyglutarate aciduria HP:0032278 rdfs:label nl 2-hydroxyglutarate aciduria NOT_TRANSLATED +en 2:1 atrioventricular block HP:0034305 rdfs:label nl 2:1 atrioventricular block NOT_TRANSLATED +en 2nd-5th toe middle phalangeal hypoplasia HP:0008083 rdfs:label nl 2e-5e teen middelste falangeale hypoplasie CANDIDATE +en 3-4 finger cutaneous syndactyly HP:0011939 rdfs:label nl 3-4 vinger cutane syndactylie CANDIDATE +en 3-4 finger syndactyly HP:0006097 rdfs:label nl 3-4 vinger syndactylie CANDIDATE +en 3-4 metacarpal synostosis HP:4000062 rdfs:label nl 3-4 metacarpal synostosis NOT_TRANSLATED +en 3-4 toe syndactyly HP:0009779 rdfs:label nl 3-4 teen syndactylie CANDIDATE +en 3-5 finger syndactyly HP:0010710 rdfs:label nl 3-5 vinger syndactylie CANDIDATE +en 3-5 toe syndactyly HP:0010716 rdfs:label nl 3-5 teen syndactylie CANDIDATE +en 3-Methylglutaconic aciduria HP:0003535 rdfs:label nl 3-Methylglutaconacidurie CANDIDATE +en 3-Methylglutaric aciduria HP:0003344 rdfs:label nl 3-Methylglutaarzuuracidurie CANDIDATE +en 3-hydroxydicarboxylic aciduria HP:0008160 rdfs:label nl 3-hydroxy-dicarboxylische acidurie CANDIDATE +en 3-hydroxyisovaleric aciduria HP:0033111 rdfs:label nl 3-hydroxyisovaleric aciduria NOT_TRANSLATED +en 4-5 finger syndactyly HP:0010705 rdfs:label nl 4-5 vinger syndactylie CANDIDATE +en 4-5 metacarpal synostosis HP:0005867 rdfs:label nl Gefuseerde vierde en vijfde metacarpalen CANDIDATE +en 4-5 toe syndactyly HP:0004692 rdfs:label nl 4-5 teen syndactylie CANDIDATE +en 4-Hydroxyphenylpyruvic aciduria HP:0003161 rdfs:label nl 4-Hydroxyphenylpyruvic aciduria NOT_TRANSLATED +en 4-hydroxyphenylacetic aciduria HP:0003607 rdfs:label nl 4-hydroxyphenylacetic aciduria NOT_TRANSLATED +en 4-layered lissencephaly HP:0006818 rdfs:label nl Type 1 lissencefalie CANDIDATE +en 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal HP:0025455 IAO:0000115 nl 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal NOT_TRANSLATED +en 5-fluorouracil exposure HP:4000135 rdfs:label nl 5-fluorouracil exposure NOT_TRANSLATED +en 5-minute APGAR score of 0 HP:0030920 rdfs:label nl 5-minuut APGAR score van 0 CANDIDATE +en 5-minute APGAR score of 1 HP:0030921 rdfs:label nl 5-minuut APGAR score van 1 CANDIDATE +en 5-minute APGAR score of 2 HP:0030922 rdfs:label nl 5-minuut APGAR score van 2 CANDIDATE +en 5-minute APGAR score of 3 HP:0030923 rdfs:label nl 5-minuut APGAR score van 3 CANDIDATE +en 5-minute APGAR score of 4 HP:0030924 rdfs:label nl 5-minuut APGAR score van 4 CANDIDATE +en 5-minute APGAR score of 5 HP:0030925 rdfs:label nl 5-minuut APGAR score van 5 CANDIDATE +en 5-minute APGAR score of 6 HP:0030926 rdfs:label nl 5-minuut APGAR score van 6 CANDIDATE +en 6 metacarpals HP:0001501 rdfs:label nl 6 middelhandsbeentjes CANDIDATE +en 6-layered lissencephaly HP:0032475 rdfs:label nl 6-layered lissencephaly NOT_TRANSLATED +en 6-mercaptopurine exposure HP:4000136 rdfs:label nl 6-mercaptopurine exposure NOT_TRANSLATED +en A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form HP:0010921 IAO:0000115 nl A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form NOT_TRANSLATED +en A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure HP:0032772 IAO:0000115 nl A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test HP:0031993 IAO:0000115 nl A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test NOT_TRANSLATED +en A Malignant mesothelioma of the testis HP:0100005 IAO:0000115 nl A Malignant mesothelioma of the testis NOT_TRANSLATED +en A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart) HP:0100004 IAO:0000115 nl A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart) NOT_TRANSLATED +en A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma HP:0100003 IAO:0000115 nl A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma NOT_TRANSLATED +en A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension HP:0031570 IAO:0000115 nl A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension NOT_TRANSLATED +en A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy HP:0100822 IAO:0000115 nl A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy NOT_TRANSLATED +en A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra HP:0030041 IAO:0000115 nl A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra NOT_TRANSLATED +en A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation HP:0031425 IAO:0000115 nl A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation NOT_TRANSLATED +en A abnormal increase in the inflammatory response to injury or infection HP:0012649 IAO:0000115 nl A abnormal increase in the inflammatory response to injury or infection NOT_TRANSLATED +en A acute form of pancreatitis HP:0001735 IAO:0000115 nl A acute form of pancreatitis NOT_TRANSLATED +en A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes HP:0030886 IAO:0000115 nl A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes NOT_TRANSLATED +en A bacterial infection and inflammation of the skin und subcutaneous tissues HP:0100658 IAO:0000115 nl A bacterial infection and inflammation of the skin und subcutaneous tissues NOT_TRANSLATED +en A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves HP:0006689 IAO:0000115 nl A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves NOT_TRANSLATED +en A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture HP:0100036 IAO:0000115 nl A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture NOT_TRANSLATED +en A basal cell carcinoma that originates in the anal margin HP:0030443 IAO:0000115 nl A basal cell carcinoma that originates in the anal margin NOT_TRANSLATED +en A behavioral abnormality marked by reduced use of communicative facial expressions. This may include individuals with a reduced range of facial expressions or those with a full range but who use them at a decreased rate HP:4000075 IAO:0000115 nl A behavioral abnormality marked by reduced use of communicative facial expressions. This may include individuals with a reduced range of facial expressions or those with a full range but who use them at a decreased rate NOT_TRANSLATED +en A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible HP:0033360 IAO:0000115 nl A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible NOT_TRANSLATED +en A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) HP:0033676 IAO:0000115 nl A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating) NOT_TRANSLATED +en A below normal level of saturation of serum transferrin with iron HP:0012464 IAO:0000115 nl A below normal level of saturation of serum transferrin with iron NOT_TRANSLATED +en A bending or abnormal curvature affecting a long bone of the arm HP:0006488 IAO:0000115 nl A bending or abnormal curvature affecting a long bone of the arm NOT_TRANSLATED +en A bending or abnormal curvature affecting a long bone of the leg HP:0002979 IAO:0000115 nl A bending or abnormal curvature affecting a long bone of the leg NOT_TRANSLATED +en A bending or abnormal curvature affecting either the radius, the ulna, or both HP:0003956 IAO:0000115 nl A bending or abnormal curvature affecting either the radius, the ulna, or both NOT_TRANSLATED +en A bending or abnormal curvature of a long bone HP:0006487 IAO:0000115 nl A bending or abnormal curvature of a long bone NOT_TRANSLATED +en A bending or abnormal curvature of the distal portion of the femur HP:0005096 IAO:0000115 nl A bending or abnormal curvature of the distal portion of the femur NOT_TRANSLATED +en A bending or abnormal curvature of the distal portion of the tibia HP:0006414 IAO:0000115 nl A bending or abnormal curvature of the distal portion of the tibia NOT_TRANSLATED +en A bending or abnormal curvature of the fibula HP:0010502 IAO:0000115 nl A bending or abnormal curvature of the fibula NOT_TRANSLATED +en A bending or abnormal curvature of the humerus HP:0003865 IAO:0000115 nl A bending or abnormal curvature of the humerus NOT_TRANSLATED +en A bending or abnormal curvature of the radius HP:0002986 IAO:0000115 nl A bending or abnormal curvature of the radius NOT_TRANSLATED +en A bending or abnormal curvature of the tibia HP:0002982 IAO:0000115 nl A bending or abnormal curvature of the tibia NOT_TRANSLATED +en A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver HP:0034514 IAO:0000115 nl A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver NOT_TRANSLATED +en A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue HP:0011802 IAO:0000115 nl A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue NOT_TRANSLATED +en A benign biphasic tumor of the breast with epithelial and stromal components HP:0010619 IAO:0000115 nl A benign biphasic tumor of the breast with epithelial and stromal components NOT_TRANSLATED +en A benign bony growth projecting outward from a bone surface within the external auditory canal HP:0004459 IAO:0000115 nl A benign bony growth projecting outward from a bone surface within the external auditory canal NOT_TRANSLATED +en A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles HP:0030064 IAO:0000115 nl A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles NOT_TRANSLATED +en A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated HP:0011525 IAO:0000115 nl A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated NOT_TRANSLATED +en A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity HP:0030429 IAO:0000115 nl A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity NOT_TRANSLATED +en A benign cartilaginous tumors of the lung HP:0031474 IAO:0000115 nl A benign cartilaginous tumors of the lung NOT_TRANSLATED +en A benign central bone tumor composed of fibrous connective tissue within which bone is formed HP:0030426 IAO:0000115 nl A benign central bone tumor composed of fibrous connective tissue within which bone is formed NOT_TRANSLATED +en A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed HP:0030427 IAO:0000115 nl A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed NOT_TRANSLATED +en A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus] HP:0031021 IAO:0000115 nl A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus] NOT_TRANSLATED +en A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) HP:0031523 IAO:0000115 nl A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria) NOT_TRANSLATED +en A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm HP:0025432 IAO:0000115 nl A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm NOT_TRANSLATED +en A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary) HP:0002893 IAO:0000115 nl A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary) NOT_TRANSLATED +en A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality HP:0034485 IAO:0000115 nl A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality NOT_TRANSLATED +en A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus] HP:0031022 IAO:0000115 nl A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus] NOT_TRANSLATED +en A benign fluid filled simple cyst of bone filled with serous fluid HP:0012064 IAO:0000115 nl A benign fluid filled simple cyst of bone filled with serous fluid NOT_TRANSLATED +en A benign focal growth composed of vascular tissue HP:0032579 IAO:0000115 nl A benign focal growth composed of vascular tissue NOT_TRANSLATED +en A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage HP:0003276 IAO:0000115 nl A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage NOT_TRANSLATED +en A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age HP:0025367 IAO:0000115 nl A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age NOT_TRANSLATED +en A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882] HP:0031460 IAO:0000115 nl A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882] NOT_TRANSLATED +en A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area HP:0032060 IAO:0000115 nl A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area NOT_TRANSLATED +en A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells HP:0003005 IAO:0000115 nl A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells NOT_TRANSLATED +en A benign nerve sheath tumor composed of Schwann cells HP:0100008 IAO:0000115 nl A benign nerve sheath tumor composed of Schwann cells NOT_TRANSLATED +en A benign or malignant neoplasm (tumour) of the peripheral nervous system HP:0100007 IAO:0000115 nl A benign or malignant neoplasm (tumour) of the peripheral nervous system NOT_TRANSLATED +en A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle HP:0009728 IAO:0000115 nl A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle NOT_TRANSLATED +en A benign or malignant neoplasm (tumour) originating in the vascular system HP:0100742 IAO:0000115 nl A benign or malignant neoplasm (tumour) originating in the vascular system NOT_TRANSLATED +en A benign or malignant neoplasm arising from the lymphatic vessels HP:0012797 IAO:0000115 nl A benign or malignant neoplasm arising from the lymphatic vessels NOT_TRANSLATED +en A benign or malignant neoplasm that affects the anal canal or anal margin HP:0032186 IAO:0000115 nl A benign or malignant neoplasm that affects the anal canal or anal margin NOT_TRANSLATED +en A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709] HP:0031492 IAO:0000115 nl A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709] NOT_TRANSLATED +en A benign or malignant neoplasm that arises from or metastasizes to the brain HP:0030692 IAO:0000115 nl A benign or malignant neoplasm that arises from or metastasizes to the brain NOT_TRANSLATED +en A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands HP:0012842 IAO:0000115 nl A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands NOT_TRANSLATED +en A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts HP:0031918 IAO:0000115 nl A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts NOT_TRANSLATED +en A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli HP:0030693 IAO:0000115 nl A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli NOT_TRANSLATED +en A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system HP:0030062 IAO:0000115 nl A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system NOT_TRANSLATED +en A benign renal neoplasm composed of fat, vascular, and smooth muscle elements HP:0006772 IAO:0000115 nl A benign renal neoplasm composed of fat, vascular, and smooth muscle elements NOT_TRANSLATED +en A benign skin adnexal tumor of eccrine differentiation HP:0031024 IAO:0000115 nl A benign skin adnexal tumor of eccrine differentiation NOT_TRANSLATED +en A benign smooth muscle neoplasm that arises in the liver HP:4000154 IAO:0000115 nl A benign smooth muscle neoplasm that arises in the liver NOT_TRANSLATED +en A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule HP:0020076 IAO:0000115 nl A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule NOT_TRANSLATED +en A benign tumor (adenoma) of the pituitary gland HP:0040278 IAO:0000115 nl A benign tumor (adenoma) of the pituitary gland NOT_TRANSLATED +en A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection HP:4000153 IAO:0000115 nl A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection NOT_TRANSLATED +en A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix HP:0500040 IAO:0000115 nl A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix NOT_TRANSLATED +en A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration HP:0025197 IAO:0000115 nl A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration NOT_TRANSLATED +en A benign tumor of cardiac striated muscle HP:0009729 IAO:0000115 nl A benign tumor of cardiac striated muscle NOT_TRANSLATED +en A benign tumor of striated muscle HP:0009730 IAO:0000115 nl A benign tumor of striated muscle NOT_TRANSLATED +en A benign tumor of the liver of presumably epithelial origin HP:0012028 IAO:0000115 nl A benign tumor of the liver of presumably epithelial origin NOT_TRANSLATED +en A benign tumor of the parathyroid gland that can cause hyperparathyroidism HP:0002897 IAO:0000115 nl A benign tumor of the parathyroid gland that can cause hyperparathyroidism NOT_TRANSLATED +en A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance HP:0011513 IAO:0000115 nl A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance NOT_TRANSLATED +en A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy HP:0031461 IAO:0000115 nl A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy NOT_TRANSLATED +en A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid) HP:0001140 IAO:0000115 nl A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid) NOT_TRANSLATED +en A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 HP:0500089 IAO:0000115 nl A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2 NOT_TRANSLATED +en A benign tumour originating from the outer root sheath of the hair follicle HP:0012844 IAO:0000115 nl A benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED +en A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour HP:0010603 IAO:0000115 nl A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour NOT_TRANSLATED +en A benign vascular tumor of the retina without any neoplastic characteristics HP:0009711 IAO:0000115 nl A benign vascular tumor of the retina without any neoplastic characteristics NOT_TRANSLATED +en A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia HP:0025314 IAO:0000115 nl A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia NOT_TRANSLATED +en A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue HP:0011846 IAO:0000115 nl A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue NOT_TRANSLATED +en A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273] HP:0031405 IAO:0000115 nl A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273] NOT_TRANSLATED +en A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone HP:0030433 IAO:0000115 nl A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone NOT_TRANSLATED +en A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints HP:0030044 IAO:0000115 nl A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints NOT_TRANSLATED +en A bent (flexed) knee joint that cannot be straightened actively or passively HP:0006380 IAO:0000115 nl A bent (flexed) knee joint that cannot be straightened actively or passively NOT_TRANSLATED +en A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV HP:0034303 IAO:0000115 nl A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV NOT_TRANSLATED +en A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side HP:0010443 IAO:0000115 nl A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side NOT_TRANSLATED +en A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray HP:0000892 IAO:0000115 nl A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray NOT_TRANSLATED +en A bilateral form of agenesis of the kidney HP:0010958 IAO:0000115 nl A bilateral form of agenesis of the kidney NOT_TRANSLATED +en A bilateral form of developmental dysplasia of the kidney HP:0012582 IAO:0000115 nl A bilateral form of developmental dysplasia of the kidney NOT_TRANSLATED +en A bilateral form of fetal pyelectasis HP:0011129 IAO:0000115 nl A bilateral form of fetal pyelectasis NOT_TRANSLATED +en A bilateral form of sensorineural hearing impairment HP:0008619 IAO:0000115 nl A bilateral form of sensorineural hearing impairment NOT_TRANSLATED +en A bilateral form of triphalangeal thumb HP:0005707 IAO:0000115 nl A bilateral form of triphalangeal thumb NOT_TRANSLATED +en A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase HP:0002069 IAO:0000115 nl A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase NOT_TRANSLATED +en A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase HP:0007334 IAO:0000115 nl A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase NOT_TRANSLATED +en A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure HP:0025190 IAO:0000115 nl A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure NOT_TRANSLATED +en A bilateral type of conductive hearing impairment HP:0008513 IAO:0000115 nl A bilateral type of conductive hearing impairment NOT_TRANSLATED +en A bilateral vestibular Schwannoma (acoustic neurinoma) HP:0009589 IAO:0000115 nl A bilateral vestibular Schwannoma (acoustic neurinoma) NOT_TRANSLATED +en A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura HP:0032447 IAO:0000115 nl A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura NOT_TRANSLATED +en A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more) HP:0003782 IAO:0000115 nl A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more) NOT_TRANSLATED +en A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts HP:0011847 IAO:0000115 nl A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts NOT_TRANSLATED +en A bony defect in the skull base HP:0009752 IAO:0000115 nl A bony defect in the skull base NOT_TRANSLATED +en A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck HP:0031171 IAO:0000115 nl A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck NOT_TRANSLATED +en A bony projection (spur, osteophyte) originating from the tibia HP:0031173 IAO:0000115 nl A bony projection (spur, osteophyte) originating from the tibia NOT_TRANSLATED +en A bony protrusion present on the midline of the hard palate HP:0100789 IAO:0000115 nl A bony protrusion present on the midline of the hard palate NOT_TRANSLATED +en A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion HP:0030957 IAO:0000115 nl A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion NOT_TRANSLATED +en A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region HP:0009796 IAO:0000115 nl A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region NOT_TRANSLATED +en A breach of the capsule of the spleen HP:0012223 IAO:0000115 nl A breach of the capsule of the spleen NOT_TRANSLATED +en A break or crush injury of the thigh bone (femur) HP:0031846 IAO:0000115 nl A break or crush injury of the thigh bone (femur) NOT_TRANSLATED +en A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician HP:0032408 IAO:0000115 nl A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician NOT_TRANSLATED +en A brief and sudden narrowing of a coronary artery HP:0025497 IAO:0000115 nl A brief and sudden narrowing of a coronary artery NOT_TRANSLATED +en A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter HP:0030890 IAO:0000115 nl A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter NOT_TRANSLATED +en A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II HP:0031599 IAO:0000115 nl A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II NOT_TRANSLATED +en A broad appearance of the fifth toe HP:0100043 IAO:0000115 nl A broad appearance of the fifth toe NOT_TRANSLATED +en A broad appearance of the fourth toe HP:0100042 IAO:0000115 nl A broad appearance of the fourth toe NOT_TRANSLATED +en A broad appearance of the second toe HP:0100040 IAO:0000115 nl A broad appearance of the second toe NOT_TRANSLATED +en A broad appearance of the third toe HP:0100041 IAO:0000115 nl A broad appearance of the third toe NOT_TRANSLATED +en A broad chest HP:0000914 IAO:0000115 nl A broad chest NOT_TRANSLATED +en A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion HP:0033653 IAO:0000115 nl A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion NOT_TRANSLATED +en A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis HP:0033652 IAO:0000115 nl A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis NOT_TRANSLATED +en A buildup of fluid that causes swelling in the soft tissues of the genital area HP:0031188 IAO:0000115 nl A buildup of fluid that causes swelling in the soft tissues of the genital area NOT_TRANSLATED +en A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography HP:0011995 IAO:0000115 nl A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography NOT_TRANSLATED +en A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray HP:0003316 IAO:0000115 nl A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray NOT_TRANSLATED +en A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina HP:0030419 IAO:0000115 nl A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina NOT_TRANSLATED +en A cancer arising in any part of the stomach HP:0012126 IAO:0000115 nl A cancer arising in any part of the stomach NOT_TRANSLATED +en A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes HP:0001909 IAO:0000115 nl A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes NOT_TRANSLATED +en A cancer of the prostate HP:0012125 IAO:0000115 nl A cancer of the prostate NOT_TRANSLATED +en A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain HP:0034512 IAO:0000115 nl A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain NOT_TRANSLATED +en A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells HP:0002665 IAO:0000115 nl A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells NOT_TRANSLATED +en A cancer that originates in the squamous cells that line the surface of the vulva HP:0030417 IAO:0000115 nl A cancer that originates in the squamous cells that line the surface of the vulva NOT_TRANSLATED +en A capillary hemangioma surrounding the eyeball but within the orbit HP:0500090 IAO:0000115 nl A capillary hemangioma surrounding the eyeball but within the orbit NOT_TRANSLATED +en A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules) HP:0025104 IAO:0000115 nl A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules) NOT_TRANSLATED +en A carcinoma derived from a squamous epithelial cell of the tongue HP:0030413 IAO:0000115 nl A carcinoma derived from a squamous epithelial cell of the tongue NOT_TRANSLATED +en A carcinoma of the endometrium, the mucous lining of the uterus HP:0012114 IAO:0000115 nl A carcinoma of the endometrium, the mucous lining of the uterus NOT_TRANSLATED +en A carcinoma of the larynx HP:0012118 IAO:0000115 nl A carcinoma of the larynx NOT_TRANSLATED +en A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct HP:0031524 IAO:0000115 nl A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct NOT_TRANSLATED +en A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) HP:0030410 IAO:0000115 nl A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) NOT_TRANSLATED +en A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular HP:0100571 IAO:0000115 nl A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular NOT_TRANSLATED +en A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve HP:0034349 IAO:0000115 nl A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve NOT_TRANSLATED +en A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve HP:0034350 IAO:0000115 nl A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve NOT_TRANSLATED +en A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve HP:0034348 IAO:0000115 nl A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve NOT_TRANSLATED +en A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation HP:0002668 IAO:0000115 nl A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation NOT_TRANSLATED +en A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone HP:0030431 IAO:0000115 nl A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone NOT_TRANSLATED +en A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule HP:0000518 IAO:0000115 nl A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule NOT_TRANSLATED +en A cataract that affects the anterior part of the cortex of the lens HP:0007795 IAO:0000115 nl A cataract that affects the anterior part of the cortex of the lens NOT_TRANSLATED +en A cataract that affects the capsule of the lens HP:0100017 IAO:0000115 nl A cataract that affects the capsule of the lens NOT_TRANSLATED +en A cataract that affects the posterior part of the cortex of the lens HP:0010924 IAO:0000115 nl A cataract that affects the posterior part of the cortex of the lens NOT_TRANSLATED +en A cataract that affects the region of the lens directly beneath the capsule of the lens HP:0000523 IAO:0000115 nl A cataract that affects the region of the lens directly beneath the capsule of the lens NOT_TRANSLATED +en A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens HP:0000519 IAO:0000115 nl A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens NOT_TRANSLATED +en A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance HP:0100019 IAO:0000115 nl A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance NOT_TRANSLATED +en A cataract which is found in the back outer layer of the lens. This type often develops more rapidly HP:0100020 IAO:0000115 nl A cataract which is found in the back outer layer of the lens. This type often develops more rapidly NOT_TRANSLATED +en A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system HP:0002132 IAO:0000115 nl A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system NOT_TRANSLATED +en A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal HP:0006145 IAO:0000115 nl A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal NOT_TRANSLATED +en A central nervous system neoplasm with neuronal and, less consistently, glial differentiation HP:0025170 IAO:0000115 nl A central nervous system neoplasm with neuronal and, less consistently, glial differentiation NOT_TRANSLATED +en A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries HP:0033522 IAO:0000115 nl A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries NOT_TRANSLATED +en A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine HP:0025643 IAO:0000115 nl A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine NOT_TRANSLATED +en A cerebrovascular accident (stroke) that occurs because of thromboembolism HP:0001727 IAO:0000115 nl A cerebrovascular accident (stroke) that occurs because of thromboembolism NOT_TRANSLATED +en A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent HP:0030009 IAO:0000115 nl A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent NOT_TRANSLATED +en A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills HP:0007281 IAO:0000115 nl A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills NOT_TRANSLATED +en A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy HP:0006834 IAO:0000115 nl A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy NOT_TRANSLATED +en A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes HP:0500075 IAO:0000115 nl A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes NOT_TRANSLATED +en A characteristic appearance resulting from defective ossification of craniofacial bones HP:0004439 IAO:0000115 nl A characteristic appearance resulting from defective ossification of craniofacial bones NOT_TRANSLATED +en A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin HP:0000295 IAO:0000115 nl A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin NOT_TRANSLATED +en A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis HP:0010762 IAO:0000115 nl A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis NOT_TRANSLATED +en A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin HP:0100324 IAO:0000115 nl A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin NOT_TRANSLATED +en A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin HP:0100651 IAO:0000115 nl A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin NOT_TRANSLATED +en A chronic deviation from normal pressure in the systemic arterial system HP:0030972 IAO:0000115 nl A chronic deviation from normal pressure in the systemic arterial system NOT_TRANSLATED +en A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function HP:0001394 IAO:0000115 nl A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function NOT_TRANSLATED +en A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes HP:0010605 IAO:0000115 nl A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes NOT_TRANSLATED +en A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced HP:0005520 IAO:0000115 nl A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced NOT_TRANSLATED +en A chronic form of gastritis HP:0005231 IAO:0000115 nl A chronic form of gastritis NOT_TRANSLATED +en A chronic form of lactic acidemia HP:0004925 IAO:0000115 nl A chronic form of lactic acidemia NOT_TRANSLATED +en A chronic form of lymphadenopathy that is not related to infection HP:0002730 IAO:0000115 nl A chronic form of lymphadenopathy that is not related to infection NOT_TRANSLATED +en A chronic form of pancreatitis HP:0006280 IAO:0000115 nl A chronic form of pancreatitis NOT_TRANSLATED +en A chronic form of sinusitis HP:0011109 IAO:0000115 nl A chronic form of sinusitis NOT_TRANSLATED +en A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation HP:0100280 IAO:0000115 nl A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation NOT_TRANSLATED +en A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon HP:0100279 IAO:0000115 nl A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon NOT_TRANSLATED +en A chronic inflammatory disease of the large intestine (colon, cecum and rectum) HP:0100281 IAO:0000115 nl A chronic inflammatory disease of the large intestine (colon, cecum and rectum) NOT_TRANSLATED +en A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes HP:0007717 IAO:0000115 nl A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes NOT_TRANSLATED +en A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle HP:0006466 IAO:0000115 nl A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle NOT_TRANSLATED +en A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement HP:0006070 IAO:0000115 nl A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED +en A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist HP:0001239 IAO:0000115 nl A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist NOT_TRANSLATED +en A chronic loss of wrist joint motion on one side only HP:0012454 IAO:0000115 nl A chronic loss of wrist joint motion on one side only NOT_TRANSLATED +en A chronic loss of wrist joint motion on the right and left sides HP:0012453 IAO:0000115 nl A chronic loss of wrist joint motion on the right and left sides NOT_TRANSLATED +en A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias HP:0005550 IAO:0000115 nl A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias NOT_TRANSLATED +en A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses HP:0040154 IAO:0000115 nl A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses NOT_TRANSLATED +en A chronic, autoimmune type of thyroiditis associated with hypothyroidism HP:0000872 IAO:0000115 nl A chronic, autoimmune type of thyroiditis associated with hypothyroidism NOT_TRANSLATED +en A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes HP:0002725 IAO:0000115 nl A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes NOT_TRANSLATED +en A chronic, relapsing, pustular eruption that is localized to the palms and soles HP:0100847 IAO:0000115 nl A chronic, relapsing, pustular eruption that is localized to the palms and soles NOT_TRANSLATED +en A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity HP:0025044 IAO:0000115 nl A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity NOT_TRANSLATED +en A circumscribed area of pus or necrotic debris in the groin (inguinal region) HP:0033590 IAO:0000115 nl A circumscribed area of pus or necrotic debris in the groin (inguinal region) NOT_TRANSLATED +en A circumscribed area of pus or necrotic debris in the labia HP:0033758 IAO:0000115 nl A circumscribed area of pus or necrotic debris in the labia NOT_TRANSLATED +en A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas HP:0025079 IAO:0000115 nl A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas NOT_TRANSLATED +en A circumscribed area of pus or necrotic debris in the parenchyma of the spleen HP:0025059 IAO:0000115 nl A circumscribed area of pus or necrotic debris in the parenchyma of the spleen NOT_TRANSLATED +en A circumscribed area of pus or necrotic debris in the skin HP:0031292 IAO:0000115 nl A circumscribed area of pus or necrotic debris in the skin NOT_TRANSLATED +en A circumscribed area of pus or necrotic debris in the vulvar region HP:0033587 IAO:0000115 nl A circumscribed area of pus or necrotic debris in the vulvar region NOT_TRANSLATED +en A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point HP:0200037 IAO:0000115 nl A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point NOT_TRANSLATED +en A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color HP:0030350 IAO:0000115 nl A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color NOT_TRANSLATED +en A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point HP:0200034 IAO:0000115 nl A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point NOT_TRANSLATED +en A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically) HP:0045059 IAO:0000115 nl A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically) NOT_TRANSLATED +en A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis HP:0031057 IAO:0000115 nl A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis NOT_TRANSLATED +en A cleft of the lip with overlying mucous membrane HP:0009101 IAO:0000115 nl A cleft of the lip with overlying mucous membrane NOT_TRANSLATED +en A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue HP:0011819 IAO:0000115 nl A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue NOT_TRANSLATED +en A cleft of the optic nerve that extends inferiorly HP:0000588 IAO:0000115 nl A cleft of the optic nerve that extends inferiorly NOT_TRANSLATED +en A cleft of the xiphoid process of the sternum HP:0100891 IAO:0000115 nl A cleft of the xiphoid process of the sternum NOT_TRANSLATED +en A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints HP:0012164 IAO:0000115 nl A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints NOT_TRANSLATED +en A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised HP:0033675 IAO:0000115 nl A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised NOT_TRANSLATED +en A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle) HP:0025249 IAO:0000115 nl A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle) NOT_TRANSLATED +en A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts) HP:0002488 IAO:0000115 nl A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts) NOT_TRANSLATED +en A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella HP:0200044 IAO:0000115 nl A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella NOT_TRANSLATED +en A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive HP:0020221 IAO:0000115 nl A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive NOT_TRANSLATED +en A close blood relative had cancer HP:0032317 IAO:0000115 nl A close blood relative had cancer NOT_TRANSLATED +en A close blood relative had heart disease HP:0032318 IAO:0000115 nl A close blood relative had heart disease NOT_TRANSLATED +en A closed fluid filled sac originating from the mesentary HP:0030451 IAO:0000115 nl A closed fluid filled sac originating from the mesentary NOT_TRANSLATED +en A closed funnel detachment of the retina with generally traction in all four quadrants HP:0500058 IAO:0000115 nl A closed funnel detachment of the retina with generally traction in all four quadrants NOT_TRANSLATED +en A closed sac located in the spleen HP:0030423 IAO:0000115 nl A closed sac located in the spleen NOT_TRANSLATED +en A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material HP:0025311 IAO:0000115 nl A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material NOT_TRANSLATED +en A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance HP:0025422 IAO:0000115 nl A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance NOT_TRANSLATED +en A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine) HP:0030248 IAO:0000115 nl A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine) NOT_TRANSLATED +en A collection of clotted blood surrounding the kidney HP:0030171 IAO:0000115 nl A collection of clotted blood surrounding the kidney NOT_TRANSLATED +en A collection of pus in the area of the rectum HP:0005224 IAO:0000115 nl A collection of pus in the area of the rectum NOT_TRANSLATED +en A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins HP:0025038 IAO:0000115 nl A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins NOT_TRANSLATED +en A collection of pus, immune cells, and other material in the brain HP:0030049 IAO:0000115 nl A collection of pus, immune cells, and other material in the brain NOT_TRANSLATED +en A coloboma of the ciliary body HP:0020006 IAO:0000115 nl A coloboma of the ciliary body NOT_TRANSLATED +en A coloboma of the iris HP:0000612 IAO:0000115 nl A coloboma of the iris NOT_TRANSLATED +en A colon of abnormally small caliber HP:0004388 IAO:0000115 nl A colon of abnormally small caliber NOT_TRANSLATED +en A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black HP:0025251 IAO:0000115 nl A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black NOT_TRANSLATED +en A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead HP:0025250 IAO:0000115 nl A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead NOT_TRANSLATED +en A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye HP:0025599 IAO:0000115 nl A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye NOT_TRANSLATED +en A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola HP:0032227 IAO:0000115 nl A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola NOT_TRANSLATED +en A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis HP:0032252 IAO:0000115 nl A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis NOT_TRANSLATED +en A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem HP:0031705 IAO:0000115 nl A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem NOT_TRANSLATED +en A complete duplication affecting one or more of the distal phalanges of the hand HP:0010001 IAO:0000115 nl A complete duplication affecting one or more of the distal phalanges of the hand NOT_TRANSLATED +en A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism HP:0010002 IAO:0000115 nl A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism NOT_TRANSLATED +en A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism HP:0009957 IAO:0000115 nl A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED +en A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism HP:0009960 IAO:0000115 nl A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED +en A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism HP:0009973 IAO:0000115 nl A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED +en A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism HP:0009986 IAO:0000115 nl A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED +en A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism HP:0009998 IAO:0000115 nl A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED +en A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism HP:0009943 IAO:0000115 nl A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED +en A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism HP:0010000 IAO:0000115 nl A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism NOT_TRANSLATED +en A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder HP:0012572 IAO:0000115 nl A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder NOT_TRANSLATED +en A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion HP:0007179 IAO:0000115 nl A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion NOT_TRANSLATED +en A complete loss of the ability to perceive vibration HP:0006944 IAO:0000115 nl A complete loss of the ability to perceive vibration NOT_TRANSLATED +en A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm HP:0025700 IAO:0000115 nl A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm NOT_TRANSLATED +en A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus HP:0011270 IAO:0000115 nl A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus NOT_TRANSLATED +en A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle HP:0001669 IAO:0000115 nl A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle NOT_TRANSLATED +en A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times HP:0012498 IAO:0000115 nl A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times NOT_TRANSLATED +en A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation HP:0003403 IAO:0000115 nl A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation NOT_TRANSLATED +en A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation HP:0030206 IAO:0000115 nl A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation NOT_TRANSLATED +en A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS) HP:0041047 IAO:0000115 nl A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS) NOT_TRANSLATED +en A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall HP:0031644 IAO:0000115 nl A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall NOT_TRANSLATED +en A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall HP:0031646 IAO:0000115 nl A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall NOT_TRANSLATED +en A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall HP:0031643 IAO:0000115 nl A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall NOT_TRANSLATED +en A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall HP:0012728 IAO:0000115 nl A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall NOT_TRANSLATED +en A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction HP:0009921 IAO:0000115 nl A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction NOT_TRANSLATED +en A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia HP:0000829 IAO:0000115 nl A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia NOT_TRANSLATED +en A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus HP:0032107 IAO:0000115 nl A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus NOT_TRANSLATED +en A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs HP:0000709 IAO:0000115 nl A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs NOT_TRANSLATED +en A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency HP:0001281 IAO:0000115 nl A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency NOT_TRANSLATED +en A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction HP:0011128 IAO:0000115 nl A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction NOT_TRANSLATED +en A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow HP:0002870 IAO:0000115 nl A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow NOT_TRANSLATED +en A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow HP:0002621 IAO:0000115 nl A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow NOT_TRANSLATED +en A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone HP:0000852 IAO:0000115 nl A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone NOT_TRANSLATED +en A condition in which both eyes beat outward simultaneously HP:0030691 IAO:0000115 nl A condition in which both eyes beat outward simultaneously NOT_TRANSLATED +en A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death HP:0200134 IAO:0000115 nl A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death NOT_TRANSLATED +en A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet HP:0001839 IAO:0000115 nl A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet NOT_TRANSLATED +en A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands HP:0001171 IAO:0000115 nl A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands NOT_TRANSLATED +en A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet HP:0100257 IAO:0000115 nl A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet NOT_TRANSLATED +en A condition in which muscles cannot be moved quickly without accompanying pain or spasm HP:0003552 IAO:0000115 nl A condition in which muscles cannot be moved quickly without accompanying pain or spasm NOT_TRANSLATED +en A condition in which production of hydrochloric acid in the stomach is absent HP:0032448 IAO:0000115 nl A condition in which production of hydrochloric acid in the stomach is absent NOT_TRANSLATED +en A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal HP:0001015 IAO:0000115 nl A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal NOT_TRANSLATED +en A condition in which the affected individual cannot extend the wrist, which hangs flaccidly HP:0031189 IAO:0000115 nl A condition in which the affected individual cannot extend the wrist, which hangs flaccidly NOT_TRANSLATED +en A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight HP:0010508 IAO:0000115 nl A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight NOT_TRANSLATED +en A condition in which the eyelids do not close to cover the eye completely HP:0030001 IAO:0000115 nl A condition in which the eyelids do not close to cover the eye completely NOT_TRANSLATED +en A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear HP:0000396 IAO:0000115 nl A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear NOT_TRANSLATED +en A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar HP:0034328 IAO:0000115 nl A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar NOT_TRANSLATED +en A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth HP:4000093 IAO:0000115 nl A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth NOT_TRANSLATED +en A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal HP:0008227 IAO:0000115 nl A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal NOT_TRANSLATED +en A condition in which the skin can be stretched beyond normal, and then returns to its initial position HP:0000974 IAO:0000115 nl A condition in which the skin can be stretched beyond normal, and then returns to its initial position NOT_TRANSLATED +en A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter HP:0002020 IAO:0000115 nl A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter NOT_TRANSLATED +en A condition in which the superior portion of the helix is folded over to a greater degree than normal HP:0004453 IAO:0000115 nl A condition in which the superior portion of the helix is folded over to a greater degree than normal NOT_TRANSLATED +en A condition in which the superior portion of the helix is folded over to a lesser degree than normal HP:0008583 IAO:0000115 nl A condition in which the superior portion of the helix is folded over to a lesser degree than normal NOT_TRANSLATED +en A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move HP:0001276 IAO:0000115 nl A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move NOT_TRANSLATED +en A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration HP:0002044 IAO:0000115 nl A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration NOT_TRANSLATED +en A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine) HP:0008297 IAO:0000115 nl A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine) NOT_TRANSLATED +en A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone HP:0000830 IAO:0000115 nl A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone NOT_TRANSLATED +en A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest HP:0500041 IAO:0000115 nl A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest NOT_TRANSLATED +en A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult HP:0011516 IAO:0000115 nl A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult NOT_TRANSLATED +en A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction HP:0012870 IAO:0000115 nl A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction NOT_TRANSLATED +en A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG HP:0011713 IAO:0000115 nl A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG NOT_TRANSLATED +en A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG HP:0011712 IAO:0000115 nl A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG NOT_TRANSLATED +en A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx HP:0009490 IAO:0000115 nl A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx HP:0009412 IAO:0000115 nl A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx HP:0009395 IAO:0000115 nl A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx HP:0009384 IAO:0000115 nl A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx HP:0010230 IAO:0000115 nl A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones HP:0006059 IAO:0000115 nl A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones NOT_TRANSLATED +en A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx HP:0009688 IAO:0000115 nl A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance HP:0010017 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009504 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009337 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0004222 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009252 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009677 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009323 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009205 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009216 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009348 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009155 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx HP:0009263 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx NOT_TRANSLATED +en A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009666 IAO:0000115 nl A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex HP:0000563 IAO:0000115 nl A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex NOT_TRANSLATED +en A cone-shaped deformity of the proximal epiphysis of the femur HP:0008789 IAO:0000115 nl A cone-shaped deformity of the proximal epiphysis of the femur NOT_TRANSLATED +en A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor) HP:0011590 IAO:0000115 nl A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor) NOT_TRANSLATED +en A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region HP:0025182 IAO:0000115 nl A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region NOT_TRANSLATED +en A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth HP:0004540 IAO:0000115 nl A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth NOT_TRANSLATED +en A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm HP:0031882 IAO:0000115 nl A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm NOT_TRANSLATED +en A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood HP:0000482 IAO:0000115 nl A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood NOT_TRANSLATED +en A congenital abnormality of the distribution of hair growth HP:0011361 IAO:0000115 nl A congenital abnormality of the distribution of hair growth NOT_TRANSLATED +en A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex HP:0007187 IAO:0000115 nl A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex NOT_TRANSLATED +en A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking HP:0100682 IAO:0000115 nl A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking NOT_TRANSLATED +en A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another HP:0002949 IAO:0000115 nl A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another NOT_TRANSLATED +en A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another HP:0030040 IAO:0000115 nl A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another NOT_TRANSLATED +en A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another HP:0030039 IAO:0000115 nl A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another NOT_TRANSLATED +en A congenital anomaly characterized by the presence of supernumerary fingers or toes HP:0010442 IAO:0000115 nl A congenital anomaly characterized by the presence of supernumerary fingers or toes NOT_TRANSLATED +en A congenital anomaly characterized by the presence of two bladders HP:0025489 IAO:0000115 nl A congenital anomaly characterized by the presence of two bladders NOT_TRANSLATED +en A congenital anomaly characterized by the presence of two separate pancreatic ducts HP:0030993 IAO:0000115 nl A congenital anomaly characterized by the presence of two separate pancreatic ducts NOT_TRANSLATED +en A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea HP:0000647 IAO:0000115 nl A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea NOT_TRANSLATED +en A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum HP:0001734 IAO:0000115 nl A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum NOT_TRANSLATED +en A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present HP:0030994 IAO:0000115 nl A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present NOT_TRANSLATED +en A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters HP:0000075 IAO:0000115 nl A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters NOT_TRANSLATED +en A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery HP:0004935 IAO:0000115 nl A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery NOT_TRANSLATED +en A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt HP:0011604 IAO:0000115 nl A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt NOT_TRANSLATED +en A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart HP:0011633 IAO:0000115 nl A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart NOT_TRANSLATED +en A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart HP:0011634 IAO:0000115 nl A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart NOT_TRANSLATED +en A congenital anomaly with lack of part of the pericardium on the righthand side of the heart HP:0011632 IAO:0000115 nl A congenital anomaly with lack of part of the pericardium on the righthand side of the heart NOT_TRANSLATED +en A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue HP:0011566 IAO:0000115 nl A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue NOT_TRANSLATED +en A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both HP:0030125 IAO:0000115 nl A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both NOT_TRANSLATED +en A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus HP:0030677 IAO:0000115 nl A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus NOT_TRANSLATED +en A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly HP:0034329 IAO:0000115 nl A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly NOT_TRANSLATED +en A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal HP:0001305 IAO:0000115 nl A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal NOT_TRANSLATED +en A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal HP:0100272 IAO:0000115 nl A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal NOT_TRANSLATED +en A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present HP:0001636 IAO:0000115 nl A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present NOT_TRANSLATED +en A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens HP:0007971 IAO:0000115 nl A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens NOT_TRANSLATED +en A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits HP:0033624 IAO:0000115 nl A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits NOT_TRANSLATED +en A congenital defect characterized by absence of the Maxilla HP:0010667 IAO:0000115 nl A congenital defect characterized by absence of the Maxilla NOT_TRANSLATED +en A congenital defect characterized by lack of development of the macula HP:0033743 IAO:0000115 nl A congenital defect characterized by lack of development of the macula NOT_TRANSLATED +en A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth HP:0006349 IAO:0000115 nl A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth NOT_TRANSLATED +en A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel HP:0005241 IAO:0000115 nl A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel NOT_TRANSLATED +en A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues HP:0004470 IAO:0000115 nl A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues NOT_TRANSLATED +en A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect HP:0011815 IAO:0000115 nl A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect NOT_TRANSLATED +en A congenital defect of development characterized by absence of the lacrimal gland HP:0007656 IAO:0000115 nl A congenital defect of development characterized by absence of the lacrimal gland NOT_TRANSLATED +en A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle HP:0011581 IAO:0000115 nl A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle NOT_TRANSLATED +en A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented HP:0001116 IAO:0000115 nl A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented NOT_TRANSLATED +en A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver) HP:0012022 IAO:0000115 nl A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver) NOT_TRANSLATED +en A congenital defect resulting in absence of the lacrimal duct HP:0007925 IAO:0000115 nl A congenital defect resulting in absence of the lacrimal duct NOT_TRANSLATED +en A congenital defect with an abnormal joining of the gums of the upper and lower jaw HP:0012292 IAO:0000115 nl A congenital defect with an abnormal joining of the gums of the upper and lower jaw NOT_TRANSLATED +en A congenital defect with aplasia (absence) of one of the right or left pulmonary artery HP:0004960 IAO:0000115 nl A congenital defect with aplasia (absence) of one of the right or left pulmonary artery NOT_TRANSLATED +en A congenital defect with failure to open of the mitral valve orifice HP:0011560 IAO:0000115 nl A congenital defect with failure to open of the mitral valve orifice NOT_TRANSLATED +en A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus HP:0008124 IAO:0000115 nl A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus NOT_TRANSLATED +en A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face HP:0032514 IAO:0000115 nl A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face NOT_TRANSLATED +en A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present HP:0025195 IAO:0000115 nl A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present NOT_TRANSLATED +en A congenital disorder of the aortic valve in which the orifice of the valve fails to develop HP:0010883 IAO:0000115 nl A congenital disorder of the aortic valve in which the orifice of the valve fails to develop NOT_TRANSLATED +en A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop HP:0010882 IAO:0000115 nl A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop NOT_TRANSLATED +en A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina HP:0030011 IAO:0000115 nl A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina NOT_TRANSLATED +en A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development HP:0009110 IAO:0000115 nl A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development NOT_TRANSLATED +en A congenital fistula in the neck resulting from incomplete closure of a branchial cleft HP:0009795 IAO:0000115 nl A congenital fistula in the neck resulting from incomplete closure of a branchial cleft NOT_TRANSLATED +en A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending HP:0005988 IAO:0000115 nl A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending NOT_TRANSLATED +en A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers) HP:4000062 IAO:0000115 nl A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers) NOT_TRANSLATED +en A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect HP:0001674 IAO:0000115 nl A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect NOT_TRANSLATED +en A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn HP:4000011 IAO:0000115 nl A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn NOT_TRANSLATED +en A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development HP:0012096 IAO:0000115 nl A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development NOT_TRANSLATED +en A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands HP:0012097 IAO:0000115 nl A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands NOT_TRANSLATED +en A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared HP:0025534 IAO:0000115 nl A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared NOT_TRANSLATED +en A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening HP:0025025 IAO:0000115 nl A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening NOT_TRANSLATED +en A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes HP:0033255 IAO:0000115 nl A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes NOT_TRANSLATED +en A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw HP:0100663 IAO:0000115 nl A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw NOT_TRANSLATED +en A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet HP:0025446 IAO:0000115 nl A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet NOT_TRANSLATED +en A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities HP:0000558 IAO:0000115 nl A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities NOT_TRANSLATED +en A congenital malformation of the aortic valve characterized by leaflet deformation HP:0005176 IAO:0000115 nl A congenital malformation of the aortic valve characterized by leaflet deformation NOT_TRANSLATED +en A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle HP:0001710 IAO:0000115 nl A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle NOT_TRANSLATED +en A congenital malformation of the pulmonary valve characterized by leaflet deformation HP:0005164 IAO:0000115 nl A congenital malformation of the pulmonary valve characterized by leaflet deformation NOT_TRANSLATED +en A congenital malformation of the tricuspid valve characterized by leaflet deformation HP:0030732 IAO:0000115 nl A congenital malformation of the tricuspid valve characterized by leaflet deformation NOT_TRANSLATED +en A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system HP:0012481 IAO:0000115 nl A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system NOT_TRANSLATED +en A congenital malformation with a cleft (gap or opening) in the face HP:0002006 IAO:0000115 nl A congenital malformation with a cleft (gap or opening) in the face NOT_TRANSLATED +en A congenital malformation with a cleft (gap or opening) in the midline of the face HP:0100629 IAO:0000115 nl A congenital malformation with a cleft (gap or opening) in the midline of the face NOT_TRANSLATED +en A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel HP:0011641 IAO:0000115 nl A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel NOT_TRANSLATED +en A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery HP:0025516 IAO:0000115 nl A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery NOT_TRANSLATED +en A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other) HP:0000912 IAO:0000115 nl A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other) NOT_TRANSLATED +en A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots HP:0025105 IAO:0000115 nl A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots NOT_TRANSLATED +en A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve HP:0011572 IAO:0000115 nl A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve NOT_TRANSLATED +en A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts arenslowly progressive and can grow to a size of 1 to 4 cm HP:0025247 IAO:0000115 nl A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts arenslowly progressive and can grow to a size of 1 to 4 cm NOT_TRANSLATED +en A congenital underdevelopment (aplasia or hypoplasia) of the pancreas HP:0100800 IAO:0000115 nl A congenital underdevelopment (aplasia or hypoplasia) of the pancreas NOT_TRANSLATED +en A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course HP:0025490 IAO:0000115 nl A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course NOT_TRANSLATED +en A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin HP:0001052 IAO:0000115 nl A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin NOT_TRANSLATED +en A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size HP:0031207 IAO:0000115 nl A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size NOT_TRANSLATED +en A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible HP:0025107 IAO:0000115 nl A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible NOT_TRANSLATED +en A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly HP:0010815 IAO:0000115 nl A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly NOT_TRANSLATED +en A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects HP:0034302 IAO:0000115 nl A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects NOT_TRANSLATED +en A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum HP:0011605 IAO:0000115 nl A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum NOT_TRANSLATED +en A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot HP:0010151 IAO:0000115 nl A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot NOT_TRANSLATED +en A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly HP:0001142 IAO:0000115 nl A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly NOT_TRANSLATED +en A conical projection of the anterior surface of the lens, occurring as a developmental anomaly HP:0011501 IAO:0000115 nl A conical projection of the anterior surface of the lens, occurring as a developmental anomaly NOT_TRANSLATED +en A conical projection of the posterior surface of the lens, occurring as a developmental anomaly HP:0011502 IAO:0000115 nl A conical projection of the posterior surface of the lens, occurring as a developmental anomaly NOT_TRANSLATED +en A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus HP:0500070 IAO:0000115 nl A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus NOT_TRANSLATED +en A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline HP:0000085 IAO:0000115 nl A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline NOT_TRANSLATED +en A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant HP:0100242 IAO:0000115 nl A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant NOT_TRANSLATED +en A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context HP:0040082 IAO:0000115 nl A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context NOT_TRANSLATED +en A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events HP:0031588 IAO:0000115 nl A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events NOT_TRANSLATED +en A contained rupture of an artery with a disruption in all 3 layers of the arterial wall HP:0031625 IAO:0000115 nl A contained rupture of an artery with a disruption in all 3 layers of the arterial wall NOT_TRANSLATED +en A continuous form of lactic acidemia HP:0004898 IAO:0000115 nl A continuous form of lactic acidemia NOT_TRANSLATED +en A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve HP:0031990 IAO:0000115 nl A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve NOT_TRANSLATED +en A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc HP:0100247 IAO:0000115 nl A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc NOT_TRANSLATED +en A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs HP:0003121 IAO:0000115 nl A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs NOT_TRANSLATED +en A contracture of the Achilles tendon HP:0001771 IAO:0000115 nl A contracture of the Achilles tendon NOT_TRANSLATED +en A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between HP:0034394 IAO:0000115 nl A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between NOT_TRANSLATED +en A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between HP:0034395 IAO:0000115 nl A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between NOT_TRANSLATED +en A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta HP:0011637 IAO:0000115 nl A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta NOT_TRANSLATED +en A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance HP:0025126 IAO:0000115 nl A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance NOT_TRANSLATED +en A cough that does not produce phlegm or mucus HP:0031246 IAO:0000115 nl A cough that does not produce phlegm or mucus NOT_TRANSLATED +en A cough that produces phlegm or mucus HP:0031245 IAO:0000115 nl A cough that produces phlegm or mucus NOT_TRANSLATED +en A cough with a characteristic sound that has been compared to a seal's bark HP:0033121 IAO:0000115 nl A cough with a characteristic sound that has been compared to a seal's bark NOT_TRANSLATED +en A count of antral follicles that is higher than normal for age HP:0033086 IAO:0000115 nl A count of antral follicles that is higher than normal for age NOT_TRANSLATED +en A count of antral follicles that is lower than normal for age HP:0033085 IAO:0000115 nl A count of antral follicles that is lower than normal for age NOT_TRANSLATED +en A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant HP:0012800 IAO:0000115 nl A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant NOT_TRANSLATED +en A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature HP:0000660 IAO:0000115 nl A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature NOT_TRANSLATED +en A crease that connects the proximal and distal transverse palmar creases HP:0011310 IAO:0000115 nl A crease that connects the proximal and distal transverse palmar creases NOT_TRANSLATED +en A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan HP:0032172 IAO:0000115 nl A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan NOT_TRANSLATED +en A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI) HP:0041056 IAO:0000115 nl A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI) NOT_TRANSLATED +en A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma HP:0031548 IAO:0000115 nl A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma NOT_TRANSLATED +en A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge HP:0025248 IAO:0000115 nl A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge NOT_TRANSLATED +en A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings HP:0040325 IAO:0000115 nl A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings NOT_TRANSLATED +en A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin HP:0033510 IAO:0000115 nl A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin NOT_TRANSLATED +en A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand HP:0040251 IAO:0000115 nl A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand NOT_TRANSLATED +en A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft HP:0000960 IAO:0000115 nl A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft NOT_TRANSLATED +en A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time HP:0032674 IAO:0000115 nl A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time NOT_TRANSLATED +en A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result HP:0032676 IAO:0000115 nl A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result NOT_TRANSLATED +en A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin HP:0032675 IAO:0000115 nl A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin NOT_TRANSLATED +en A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium HP:0020143 IAO:0000115 nl A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium NOT_TRANSLATED +en A cyst located along the allantois canal HP:0012618 IAO:0000115 nl A cyst located along the allantois canal NOT_TRANSLATED +en A cyst occurring within the choroid plexus within a cerebral ventricle HP:0002190 IAO:0000115 nl A cyst occurring within the choroid plexus within a cerebral ventricle NOT_TRANSLATED +en A cyst of the ovary that exhibits deposition of calcium salts HP:0030425 IAO:0000115 nl A cyst of the ovary that exhibits deposition of calcium salts NOT_TRANSLATED +en A cyst of the pancreas that possess a lining of mucous epithelium HP:0001737 IAO:0000115 nl A cyst of the pancreas that possess a lining of mucous epithelium NOT_TRANSLATED +en A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts HP:0030668 IAO:0000115 nl A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts NOT_TRANSLATED +en A cystadenoma, an epithelial tumor, that originates within the head of the epididymis HP:0009715 IAO:0000115 nl A cystadenoma, an epithelial tumor, that originates within the head of the epididymis NOT_TRANSLATED +en A cystic lesion originating within the brain HP:0010576 IAO:0000115 nl A cystic lesion originating within the brain NOT_TRANSLATED +en A cystic lesions that forms a benign tumor of an apocrine sweat gland HP:0031454 IAO:0000115 nl A cystic lesions that forms a benign tumor of an apocrine sweat gland NOT_TRANSLATED +en A cystic lymphatic lesion of the neck HP:0000476 IAO:0000115 nl A cystic lymphatic lesion of the neck NOT_TRANSLATED +en A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily HP:0033808 IAO:0000115 nl A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily NOT_TRANSLATED +en A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue HP:0012887 IAO:0000115 nl A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue NOT_TRANSLATED +en A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage HP:0034408 IAO:0000115 nl A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage NOT_TRANSLATED +en A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3) HP:0007984 IAO:0000115 nl A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3) NOT_TRANSLATED +en A darkening of the skin related to an increase in melanin production and deposition HP:0000953 IAO:0000115 nl A darkening of the skin related to an increase in melanin production and deposition NOT_TRANSLATED +en A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia HP:0012753 IAO:0000115 nl A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia NOT_TRANSLATED +en A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia HP:0012752 IAO:0000115 nl A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia NOT_TRANSLATED +en A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem HP:0012750 IAO:0000115 nl A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem NOT_TRANSLATED +en A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem HP:0012749 IAO:0000115 nl A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem NOT_TRANSLATED +en A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus HP:0012690 IAO:0000115 nl A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus NOT_TRANSLATED +en A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus HP:0012691 IAO:0000115 nl A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus NOT_TRANSLATED +en A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter HP:0007103 IAO:0000115 nl A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter NOT_TRANSLATED +en A decrease below the normal concentration of glycerol in the blood HP:0031794 IAO:0000115 nl A decrease below the normal concentration of glycerol in the blood NOT_TRANSLATED +en A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg) HP:0500107 IAO:0000115 nl A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg) NOT_TRANSLATED +en A decrease in high molecular weight von Willebrand factor multimers HP:0040225 IAO:0000115 nl A decrease in high molecular weight von Willebrand factor multimers NOT_TRANSLATED +en A decrease in or disappearance of signs and symptoms typically associated with a disease course HP:0034382 IAO:0000115 nl A decrease in or disappearance of signs and symptoms typically associated with a disease course NOT_TRANSLATED +en A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles HP:0006938 IAO:0000115 nl A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles NOT_TRANSLATED +en A decrease in the ability to perceive vibration in the distal portions of the limbs HP:0006886 IAO:0000115 nl A decrease in the ability to perceive vibration in the distal portions of the limbs NOT_TRANSLATED +en A decrease in the ability to perceive vibration in the legs HP:0002166 IAO:0000115 nl A decrease in the ability to perceive vibration in the legs NOT_TRANSLATED +en A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient HP:0002495 IAO:0000115 nl A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient NOT_TRANSLATED +en A decrease in the amount of alveolar bone around the root of a tooth HP:0410027 IAO:0000115 nl A decrease in the amount of alveolar bone around the root of a tooth NOT_TRANSLATED +en A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age HP:0031096 IAO:0000115 nl A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age NOT_TRANSLATED +en A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation HP:0410145 IAO:0000115 nl A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation NOT_TRANSLATED +en A decrease in the concentration of alpha-fetoprotein in the blood circulation HP:0045057 IAO:0000115 nl A decrease in the concentration of alpha-fetoprotein in the blood circulation NOT_TRANSLATED +en A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues HP:0410050 IAO:0000115 nl A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues NOT_TRANSLATED +en A decrease in the level of D-mannose in the urine HP:0410060 IAO:0000115 nl A decrease in the level of D-mannose in the urine NOT_TRANSLATED +en A decrease in the level of GABA in the serum HP:0410054 IAO:0000115 nl A decrease in the level of GABA in the serum NOT_TRANSLATED +en A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) HP:0012708 IAO:0000115 nl A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025051 IAO:0000115 nl A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A decrease in the level of erythritol in the cerebrospinal fluid HP:0410056 IAO:0000115 nl A decrease in the level of erythritol in the cerebrospinal fluid NOT_TRANSLATED +en A decrease in the level of erythritol in the urine HP:0410055 IAO:0000115 nl A decrease in the level of erythritol in the urine NOT_TRANSLATED +en A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot HP:0410182 IAO:0000115 nl A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot NOT_TRANSLATED +en A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes HP:0410190 IAO:0000115 nl A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED +en A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells HP:0410188 IAO:0000115 nl A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells NOT_TRANSLATED +en A decrease in the level of glucose-6-phosphate dehydrogenase in the blood HP:0410179 IAO:0000115 nl A decrease in the level of glucose-6-phosphate dehydrogenase in the blood NOT_TRANSLATED +en A decrease in the level of glucose-6-phosphate dehydrogenase in tissue HP:0410187 IAO:0000115 nl A decrease in the level of glucose-6-phosphate dehydrogenase in tissue NOT_TRANSLATED +en A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025046 IAO:0000115 nl A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A decrease in the maximum amount of negative pressure a person can generate during an inhalation HP:0012496 IAO:0000115 nl A decrease in the maximum amount of negative pressure a person can generate during an inhalation NOT_TRANSLATED +en A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration HP:0012497 IAO:0000115 nl A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration NOT_TRANSLATED +en A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis HP:0041048 IAO:0000115 nl A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis NOT_TRANSLATED +en A decrease in the strength of the diaphragm HP:0009113 IAO:0000115 nl A decrease in the strength of the diaphragm NOT_TRANSLATED +en A decrease in the volume (size) of the amygdyla HP:0025444 IAO:0000115 nl A decrease in the volume (size) of the amygdyla NOT_TRANSLATED +en A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410195 IAO:0000115 nl A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED +en A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410198 IAO:0000115 nl A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED +en A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances HP:0030801 IAO:0000115 nl A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances NOT_TRANSLATED +en A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip HP:0008800 IAO:0000115 nl A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip NOT_TRANSLATED +en A decreased ability to perceive flavor HP:0000224 IAO:0000115 nl A decreased ability to perceive flavor NOT_TRANSLATED +en A decreased amount of alanine in the blood HP:0500154 IAO:0000115 nl A decreased amount of alanine in the blood NOT_TRANSLATED +en A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy HP:0030102 IAO:0000115 nl A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy NOT_TRANSLATED +en A decreased amount of asparagine in the blood HP:0500157 IAO:0000115 nl A decreased amount of asparagine in the blood NOT_TRANSLATED +en A decreased amount of carnosine in bood HP:0500162 IAO:0000115 nl A decreased amount of carnosine in bood NOT_TRANSLATED +en A decreased amount of cholinesterase in the blood circulation HP:0020175 IAO:0000115 nl A decreased amount of cholinesterase in the blood circulation NOT_TRANSLATED +en A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle HP:0030095 IAO:0000115 nl A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle NOT_TRANSLATED +en A decreased amount of cystine in the blood HP:0500152 IAO:0000115 nl A decreased amount of cystine in the blood NOT_TRANSLATED +en A decreased amount of dystrophin in muscle fiber tissue HP:0030098 IAO:0000115 nl A decreased amount of dystrophin in muscle fiber tissue NOT_TRANSLATED +en A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect HP:0006285 IAO:0000115 nl A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect NOT_TRANSLATED +en A decreased amount of glutamate in the blood HP:0500150 IAO:0000115 nl A decreased amount of glutamate in the blood NOT_TRANSLATED +en A decreased amount of glycogen in muscle tissue HP:0012270 IAO:0000115 nl A decreased amount of glycogen in muscle tissue NOT_TRANSLATED +en A decreased amount of histidine in the blood HP:0500145 IAO:0000115 nl A decreased amount of histidine in the blood NOT_TRANSLATED +en A decreased amount of hydroxyproline in the blood HP:0500140 IAO:0000115 nl A decreased amount of hydroxyproline in the blood NOT_TRANSLATED +en A decreased amount of isoleucine in the blood HP:0500144 IAO:0000115 nl A decreased amount of isoleucine in the blood NOT_TRANSLATED +en A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue HP:0030124 IAO:0000115 nl A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue NOT_TRANSLATED +en A decreased amount of lysine in the blood HP:0500142 IAO:0000115 nl A decreased amount of lysine in the blood NOT_TRANSLATED +en A decreased amount of phenylalanine in the blood HP:0500141 IAO:0000115 nl A decreased amount of phenylalanine in the blood NOT_TRANSLATED +en A decreased amount of proline in the blood HP:0500139 IAO:0000115 nl A decreased amount of proline in the blood NOT_TRANSLATED +en A decreased amount of taurine in the blood HP:0500182 IAO:0000115 nl A decreased amount of taurine in the blood NOT_TRANSLATED +en A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation HP:0034006 IAO:0000115 nl A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation NOT_TRANSLATED +en A decreased amount of threonine in the blood HP:0500136 IAO:0000115 nl A decreased amount of threonine in the blood NOT_TRANSLATED +en A decreased amount of tryptophan in the blood HP:0500135 IAO:0000115 nl A decreased amount of tryptophan in the blood NOT_TRANSLATED +en A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker HP:0031219 IAO:0000115 nl A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker NOT_TRANSLATED +en A decreased amount of valine in the blood HP:0500132 IAO:0000115 nl A decreased amount of valine in the blood NOT_TRANSLATED +en A decreased anteroposterior thickness of the cornea HP:0100689 IAO:0000115 nl A decreased anteroposterior thickness of the cornea NOT_TRANSLATED +en A decreased blood concentration of growth hormone binding protein HP:0031036 IAO:0000115 nl A decreased blood concentration of growth hormone binding protein NOT_TRANSLATED +en A decreased concentration of 5-methyltetrahydrofolate in the blood HP:0410217 IAO:0000115 nl A decreased concentration of 5-methyltetrahydrofolate in the blood NOT_TRANSLATED +en A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion HP:0030795 IAO:0000115 nl A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion NOT_TRANSLATED +en A decreased concentration of ammonia in the blood HP:0100493 IAO:0000115 nl A decreased concentration of ammonia in the blood NOT_TRANSLATED +en A decreased concentration of arginine in the blood HP:0005961 IAO:0000115 nl A decreased concentration of arginine in the blood NOT_TRANSLATED +en A decreased concentration of carnitine in the blood HP:0003234 IAO:0000115 nl A decreased concentration of carnitine in the blood NOT_TRANSLATED +en A decreased concentration of citrulline in the blood HP:0003572 IAO:0000115 nl A decreased concentration of citrulline in the blood NOT_TRANSLATED +en A decreased concentration of cystatin C in the blood circulation HP:0032997 IAO:0000115 nl A decreased concentration of cystatin C in the blood circulation NOT_TRANSLATED +en A decreased concentration of free (unbound) carnitine in the blood HP:0008315 IAO:0000115 nl A decreased concentration of free (unbound) carnitine in the blood NOT_TRANSLATED +en A decreased concentration of glucose in the blood HP:0001943 IAO:0000115 nl A decreased concentration of glucose in the blood NOT_TRANSLATED +en A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies HP:0001985 IAO:0000115 nl A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies NOT_TRANSLATED +en A decreased concentration of homocystine in the blood HP:0020222 IAO:0000115 nl A decreased concentration of homocystine in the blood NOT_TRANSLATED +en A decreased concentration of insulin in the blood HP:0040216 IAO:0000115 nl A decreased concentration of insulin in the blood NOT_TRANSLATED +en A decreased concentration of leptin in the blood HP:0003292 IAO:0000115 nl A decreased concentration of leptin in the blood NOT_TRANSLATED +en A decreased concentration of methionine in the blood HP:0003658 IAO:0000115 nl A decreased concentration of methionine in the blood NOT_TRANSLATED +en A decreased concentration of potassium(1+) in the urine HP:0012364 IAO:0000115 nl A decreased concentration of potassium(1+) in the urine NOT_TRANSLATED +en A decreased concentration of protein in the blood HP:0003075 IAO:0000115 nl A decreased concentration of protein in the blood NOT_TRANSLATED +en A decreased concentration of sex-hormone binding protein in the circulation HP:0031419 IAO:0000115 nl A decreased concentration of sex-hormone binding protein in the circulation NOT_TRANSLATED +en A decreased concentration of total carnitine in the blood HP:0011936 IAO:0000115 nl A decreased concentration of total carnitine in the blood NOT_TRANSLATED +en A decreased functionality of the gonad HP:0000135 IAO:0000115 nl A decreased functionality of the gonad NOT_TRANSLATED +en A decreased level of Plasminogen HP:0040228 IAO:0000115 nl A decreased level of Plasminogen NOT_TRANSLATED +en A decreased level of glucose-6-phosphate isomerase HP:0003568 IAO:0000115 nl A decreased level of glucose-6-phosphate isomerase NOT_TRANSLATED +en A decreased magnitude of the sensory perception of sound HP:0000365 IAO:0000115 nl A decreased magnitude of the sensory perception of sound NOT_TRANSLATED +en A decreased or reduced level of the enzyme lactate dehydrogenase in serum HP:0045041 IAO:0000115 nl A decreased or reduced level of the enzyme lactate dehydrogenase in serum NOT_TRANSLATED +en A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3 HP:0031382 IAO:0000115 nl A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3 NOT_TRANSLATED +en A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA) HP:0031381 IAO:0000115 nl A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA) NOT_TRANSLATED +en A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count HP:0005407 IAO:0000115 nl A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count NOT_TRANSLATED +en A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells HP:0005415 IAO:0000115 nl A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells NOT_TRANSLATED +en A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count HP:4000039 IAO:0000115 nl A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count NOT_TRANSLATED +en A decreased rate of pyruvate carboxylase activity HP:0003209 IAO:0000115 nl A decreased rate of pyruvate carboxylase activity NOT_TRANSLATED +en A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body HP:0002750 IAO:0000115 nl A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body NOT_TRANSLATED +en A decreased rate of urine production HP:0011037 IAO:0000115 nl A decreased rate of urine production NOT_TRANSLATED +en A decreased sensitivity to odorants (that is, a decreased ability to perceive odors) HP:0004409 IAO:0000115 nl A decreased sensitivity to odorants (that is, a decreased ability to perceive odors) NOT_TRANSLATED +en A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat HP:0033532 IAO:0000115 nl A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat NOT_TRANSLATED +en A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae HP:0034274 IAO:0000115 nl A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae NOT_TRANSLATED +en A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer HP:0025452 IAO:0000115 nl A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer NOT_TRANSLATED +en A defect in the ability to concentrate the urine HP:0004727 IAO:0000115 nl A defect in the ability to concentrate the urine NOT_TRANSLATED +en A defect in the motor ability that enables speech HP:0002425 IAO:0000115 nl A defect in the motor ability that enables speech NOT_TRANSLATED +en A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication HP:0410166 IAO:0000115 nl A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication NOT_TRANSLATED +en A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements HP:0002186 IAO:0000115 nl A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements NOT_TRANSLATED +en A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops) HP:0025692 IAO:0000115 nl A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops) NOT_TRANSLATED +en A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue HP:0002324 IAO:0000115 nl A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue NOT_TRANSLATED +en A defect of the atrioventricular septum of the heart HP:0006695 IAO:0000115 nl A defect of the atrioventricular septum of the heart NOT_TRANSLATED +en A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription HP:0031407 IAO:0000115 nl A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription NOT_TRANSLATED +en A defect where there is no connection between the left atrium and left ventricle HP:0011547 IAO:0000115 nl A defect where there is no connection between the left atrium and left ventricle NOT_TRANSLATED +en A defect where there is no connection between the right atrium and right ventricle HP:0011548 IAO:0000115 nl A defect where there is no connection between the right atrium and right ventricle NOT_TRANSLATED +en A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes HP:0031384 IAO:0000115 nl A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes NOT_TRANSLATED +en A deficiency in the intake of energy and nutrients HP:0004395 IAO:0000115 nl A deficiency in the intake of energy and nutrients NOT_TRANSLATED +en A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase HP:0003647 IAO:0000115 nl A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase NOT_TRANSLATED +en A deficiency or slowing down of growth pre- and postnatally HP:0001510 IAO:0000115 nl A deficiency or slowing down of growth pre- and postnatally NOT_TRANSLATED +en A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others HP:0031433 IAO:0000115 nl A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others NOT_TRANSLATED +en A deficit in the ability to fixate eye movements in order to stabilize images on the retina HP:0025405 IAO:0000115 nl A deficit in the ability to fixate eye movements in order to stabilize images on the retina NOT_TRANSLATED +en A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that) HP:0033688 IAO:0000115 nl A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that) NOT_TRANSLATED +en A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds) HP:0033687 IAO:0000115 nl A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds) NOT_TRANSLATED +en A deformity of foot and ankle in which the foot is bent down and outwards HP:0001772 IAO:0000115 nl A deformity of foot and ankle in which the foot is bent down and outwards NOT_TRANSLATED +en A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus HP:0001883 IAO:0000115 nl A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus NOT_TRANSLATED +en A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum HP:0000768 IAO:0000115 nl A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum NOT_TRANSLATED +en A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body HP:0025317 IAO:0000115 nl A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body NOT_TRANSLATED +en A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull HP:0002680 IAO:0000115 nl A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull NOT_TRANSLATED +en A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads HP:0002511 IAO:0000115 nl A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads NOT_TRANSLATED +en A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine HP:0003774 IAO:0000115 nl A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine NOT_TRANSLATED +en A degree of language development that is significantly below the norm for a child of a specified age HP:0000750 IAO:0000115 nl A degree of language development that is significantly below the norm for a child of a specified age NOT_TRANSLATED +en A degree of pneumatization that is increased compared to age-related norms HP:0010540 IAO:0000115 nl A degree of pneumatization that is increased compared to age-related norms NOT_TRANSLATED +en A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance HP:0005328 IAO:0000115 nl A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance NOT_TRANSLATED +en A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life HP:0001476 IAO:0000115 nl A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life NOT_TRANSLATED +en A delay in healing of a fracture past the expected duration HP:0032537 IAO:0000115 nl A delay in healing of a fracture past the expected duration NOT_TRANSLATED +en A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age HP:0001263 IAO:0000115 nl A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age NOT_TRANSLATED +en A delay in the acquisition of the ability to understand the speech of others HP:0010863 IAO:0000115 nl A delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED +en A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts HP:0002474 IAO:0000115 nl A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED +en A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age) HP:0012381 IAO:0000115 nl A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age) NOT_TRANSLATED +en A delay in the process of formation and maturation of the epiphysis of one or more long bones HP:0006067 IAO:0000115 nl A delay in the process of formation and maturation of the epiphysis of one or more long bones NOT_TRANSLATED +en A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs HP:0003840 IAO:0000115 nl A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs NOT_TRANSLATED +en A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow HP:0003947 IAO:0000115 nl A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow NOT_TRANSLATED +en A delay in the process of formation and maturation of the epiphysis of one or more vertebrae HP:0012711 IAO:0000115 nl A delay in the process of formation and maturation of the epiphysis of one or more vertebrae NOT_TRANSLATED +en A delay in the process of formation and maturation of the humeral epiphysis HP:0003894 IAO:0000115 nl A delay in the process of formation and maturation of the humeral epiphysis NOT_TRANSLATED +en A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis HP:0009718 IAO:0000115 nl A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis NOT_TRANSLATED +en A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders HP:0002145 IAO:0000115 nl A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders NOT_TRANSLATED +en A depression located at an oral commissure HP:0002710 IAO:0000115 nl A depression located at an oral commissure NOT_TRANSLATED +en A depression located on a lip HP:0100267 IAO:0000115 nl A depression located on a lip NOT_TRANSLATED +en A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera HP:0009920 IAO:0000115 nl A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera NOT_TRANSLATED +en A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region HP:0020223 IAO:0000115 nl A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region NOT_TRANSLATED +en A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001) HP:0032178 IAO:0000115 nl A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001) NOT_TRANSLATED +en A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck HP:0000956 IAO:0000115 nl A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck NOT_TRANSLATED +en A descriptive term for a forearm bone that appears to have an additional bone within it on radiography HP:0003955 IAO:0000115 nl A descriptive term for a forearm bone that appears to have an additional bone within it on radiography NOT_TRANSLATED +en A detachment that involves the peripheral retina that does not extend into the macula HP:0500054 IAO:0000115 nl A detachment that involves the peripheral retina that does not extend into the macula NOT_TRANSLATED +en A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well HP:0500055 IAO:0000115 nl A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well NOT_TRANSLATED +en A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction HP:0012537 IAO:0000115 nl A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction NOT_TRANSLATED +en A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease HP:0012538 IAO:0000115 nl A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease NOT_TRANSLATED +en A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone HP:0010744 IAO:0000115 nl A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone NOT_TRANSLATED +en A developmental abnormality characterized by the absence of the fifth metatarsal bone HP:0008079 IAO:0000115 nl A developmental abnormality characterized by the absence of the fifth metatarsal bone NOT_TRANSLATED +en A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate HP:0012620 IAO:0000115 nl A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate NOT_TRANSLATED +en A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis HP:0030715 IAO:0000115 nl A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis NOT_TRANSLATED +en A developmental anomaly characterized by abnormal smallness of both eyes HP:0007633 IAO:0000115 nl A developmental anomaly characterized by abnormal smallness of both eyes NOT_TRANSLATED +en A developmental anomaly characterized by abnormal smallness of one eye HP:0011480 IAO:0000115 nl A developmental anomaly characterized by abnormal smallness of one eye NOT_TRANSLATED +en A developmental anomaly characterized by abnormal smallness of one or both eyes HP:0000568 IAO:0000115 nl A developmental anomaly characterized by abnormal smallness of one or both eyes NOT_TRANSLATED +en A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder HP:0000073 IAO:0000115 nl A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder NOT_TRANSLATED +en A developmental anomaly characterized by undergrowth of the corpus cavernosum HP:4000094 IAO:0000115 nl A developmental anomaly characterized by undergrowth of the corpus cavernosum NOT_TRANSLATED +en A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys HP:0004736 IAO:0000115 nl A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys NOT_TRANSLATED +en A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent HP:0012761 IAO:0000115 nl A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent NOT_TRANSLATED +en A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum HP:0031134 IAO:0000115 nl A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum NOT_TRANSLATED +en A developmental anomaly of the ureter HP:0008631 IAO:0000115 nl A developmental anomaly of the ureter NOT_TRANSLATED +en A developmental anomaly with absence of one or more ribs HP:0000921 IAO:0000115 nl A developmental anomaly with absence of one or more ribs NOT_TRANSLATED +en A developmental anomaly with lateral displacement of the femoral head HP:0006453 IAO:0000115 nl A developmental anomaly with lateral displacement of the femoral head NOT_TRANSLATED +en A developmental anomaly wtih a small tubular or saccular midline stomach HP:0100841 IAO:0000115 nl A developmental anomaly wtih a small tubular or saccular midline stomach NOT_TRANSLATED +en A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa HP:0000589 IAO:0000115 nl A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa NOT_TRANSLATED +en A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood HP:0010772 IAO:0000115 nl A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood NOT_TRANSLATED +en A developmental defect characterized by absence of the retina HP:0010728 IAO:0000115 nl A developmental defect characterized by absence of the retina NOT_TRANSLATED +en A developmental defect characterized by absence or poor development of proximal renal tubules HP:0008660 IAO:0000115 nl A developmental defect characterized by absence or poor development of proximal renal tubules NOT_TRANSLATED +en A developmental defect characterized by absence or underdevelopment of one or more facial bone HP:0034261 IAO:0000115 nl A developmental defect characterized by absence or underdevelopment of one or more facial bone NOT_TRANSLATED +en A developmental defect characterized by agenesis of one or more vertebral bodies HP:0008465 IAO:0000115 nl A developmental defect characterized by agenesis of one or more vertebral bodies NOT_TRANSLATED +en A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine HP:0031175 IAO:0000115 nl A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine NOT_TRANSLATED +en A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine HP:0031176 IAO:0000115 nl A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine NOT_TRANSLATED +en A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons HP:0033645 IAO:0000115 nl A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons NOT_TRANSLATED +en A developmental defect characterized by aplasia of the Falx cerebri HP:0010654 IAO:0000115 nl A developmental defect characterized by aplasia of the Falx cerebri NOT_TRANSLATED +en A developmental defect characterized by fusion of the left and right halves of the thalamus HP:0010664 IAO:0000115 nl A developmental defect characterized by fusion of the left and right halves of the thalamus NOT_TRANSLATED +en A developmental defect characterized by lack of a soft palate HP:0031046 IAO:0000115 nl A developmental defect characterized by lack of a soft palate NOT_TRANSLATED +en A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation) HP:0034196 IAO:0000115 nl A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation) NOT_TRANSLATED +en A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax) HP:0034342 IAO:0000115 nl A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax) NOT_TRANSLATED +en A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand HP:0010034 IAO:0000115 nl A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand NOT_TRANSLATED +en A developmental defect characterized by the absence of the first metatarsal bone HP:0010104 IAO:0000115 nl A developmental defect characterized by the absence of the first metatarsal bone NOT_TRANSLATED +en A developmental defect characterized by the absence of the putamen owing to its failure to develop HP:0041052 IAO:0000115 nl A developmental defect characterized by the absence of the putamen owing to its failure to develop NOT_TRANSLATED +en A developmental defect characterized by the absence of the third ventricle HP:0010661 IAO:0000115 nl A developmental defect characterized by the absence of the third ventricle NOT_TRANSLATED +en A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva HP:0031569 IAO:0000115 nl A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva NOT_TRANSLATED +en A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse HP:0031604 IAO:0000115 nl A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse NOT_TRANSLATED +en A developmental defect characterized by the lack of formation of the pulmonary blood vessels HP:0005311 IAO:0000115 nl A developmental defect characterized by the lack of formation of the pulmonary blood vessels NOT_TRANSLATED +en A developmental defect characterized by underdevelopment of the mesencephalon HP:0034259 IAO:0000115 nl A developmental defect characterized by underdevelopment of the mesencephalon NOT_TRANSLATED +en A developmental defect consisting in the complete duplication of the first metatarsal bone HP:0010098 IAO:0000115 nl A developmental defect consisting in the complete duplication of the first metatarsal bone NOT_TRANSLATED +en A developmental defect consisting in the duplication of part of the first metatarsal bone HP:0010099 IAO:0000115 nl A developmental defect consisting in the duplication of part of the first metatarsal bone NOT_TRANSLATED +en A developmental defect consisting in the duplication of the first metatarsal bone HP:0010075 IAO:0000115 nl A developmental defect consisting in the duplication of the first metatarsal bone NOT_TRANSLATED +en A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter HP:0005999 IAO:0000115 nl A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter NOT_TRANSLATED +en A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint) HP:0034187 IAO:0000115 nl A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint) NOT_TRANSLATED +en A developmental defect in the formation of pulmonary lobes HP:0002101 IAO:0000115 nl A developmental defect in the formation of pulmonary lobes NOT_TRANSLATED +en A developmental defect in which a kidney is located in an abnormal anatomic position HP:0000086 IAO:0000115 nl A developmental defect in which a kidney is located in an abnormal anatomic position NOT_TRANSLATED +en A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis HP:0000125 IAO:0000115 nl A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis NOT_TRANSLATED +en A developmental defect in which the coronary sinus fails to form HP:0031783 IAO:0000115 nl A developmental defect in which the coronary sinus fails to form NOT_TRANSLATED +en A developmental defect in which the gallbladder fails to form HP:0011467 IAO:0000115 nl A developmental defect in which the gallbladder fails to form NOT_TRANSLATED +en A developmental defect in which the legs are fused together HP:0010497 IAO:0000115 nl A developmental defect in which the legs are fused together NOT_TRANSLATED +en A developmental defect leading to the union of two adjacent vertebrae HP:0002948 IAO:0000115 nl A developmental defect leading to the union of two adjacent vertebrae NOT_TRANSLATED +en A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes HP:0033998 IAO:0000115 nl A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes NOT_TRANSLATED +en A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung HP:0033183 IAO:0000115 nl A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung NOT_TRANSLATED +en A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis HP:0033208 IAO:0000115 nl A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis NOT_TRANSLATED +en A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails HP:0010775 IAO:0000115 nl A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails NOT_TRANSLATED +en A developmental defect of the pericardium with congenital onset HP:0011628 IAO:0000115 nl A developmental defect of the pericardium with congenital onset NOT_TRANSLATED +en A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally HP:0008455 IAO:0000115 nl A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally NOT_TRANSLATED +en A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations HP:0034222 IAO:0000115 nl A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations NOT_TRANSLATED +en A developmental defect of tooth color HP:0011073 IAO:0000115 nl A developmental defect of tooth color NOT_TRANSLATED +en A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum HP:0005235 IAO:0000115 nl A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum NOT_TRANSLATED +en A developmental defect resulting in an obstructing membrane in the posterior male urethra HP:0010957 IAO:0000115 nl A developmental defect resulting in an obstructing membrane in the posterior male urethra NOT_TRANSLATED +en A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum HP:0002247 IAO:0000115 nl A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum NOT_TRANSLATED +en A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon HP:0010448 IAO:0000115 nl A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon NOT_TRANSLATED +en A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach HP:0002032 IAO:0000115 nl A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach NOT_TRANSLATED +en A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum HP:0025023 IAO:0000115 nl A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum NOT_TRANSLATED +en A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs HP:0001057 IAO:0000115 nl A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs NOT_TRANSLATED +en A developmental defect resulting in the congenital absence of skin on the scalp HP:0007385 IAO:0000115 nl A developmental defect resulting in the congenital absence of skin on the scalp NOT_TRANSLATED +en A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area HP:0004476 IAO:0000115 nl A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area NOT_TRANSLATED +en A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline HP:0004471 IAO:0000115 nl A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline NOT_TRANSLATED +en A developmental defect resulting in the congenital absence of skin on the trunk or the limbs HP:0007589 IAO:0000115 nl A developmental defect resulting in the congenital absence of skin on the trunk or the limbs NOT_TRANSLATED +en A developmental defect resulting in the presence of fewer than the normal number of digits HP:0012165 IAO:0000115 nl A developmental defect resulting in the presence of fewer than the normal number of digits NOT_TRANSLATED +en A developmental defect resulting in the presence of fewer than the normal number of fingers HP:0001180 IAO:0000115 nl A developmental defect resulting in the presence of fewer than the normal number of fingers NOT_TRANSLATED +en A developmental defect resulting in the presence of fewer than the normal number of toes HP:0001849 IAO:0000115 nl A developmental defect resulting in the presence of fewer than the normal number of toes NOT_TRANSLATED +en A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood HP:0010498 IAO:0000115 nl A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood NOT_TRANSLATED +en A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells HP:0010464 IAO:0000115 nl A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells NOT_TRANSLATED +en A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication HP:0100681 IAO:0000115 nl A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication NOT_TRANSLATED +en A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine HP:0100668 IAO:0000115 nl A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine NOT_TRANSLATED +en A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct HP:0000564 IAO:0000115 nl A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct NOT_TRANSLATED +en A developmental disturbance with extreme ureteral dilatation HP:0008676 IAO:0000115 nl A developmental disturbance with extreme ureteral dilatation NOT_TRANSLATED +en A developmental dysplasia of the dental enamel HP:0000705 IAO:0000115 nl A developmental dysplasia of the dental enamel NOT_TRANSLATED +en A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays) HP:0010891 IAO:0000115 nl A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays) NOT_TRANSLATED +en A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base HP:0002691 IAO:0000115 nl A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base NOT_TRANSLATED +en A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord HP:0002508 IAO:0000115 nl A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord NOT_TRANSLATED +en A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries HP:0011587 IAO:0000115 nl A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries NOT_TRANSLATED +en A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch) HP:0031055 IAO:0000115 nl A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch) NOT_TRANSLATED +en A deviance in the normal connections between two cardiac segements HP:0011545 IAO:0000115 nl A deviance in the normal connections between two cardiac segements NOT_TRANSLATED +en A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells HP:0012546 IAO:0000115 nl A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells NOT_TRANSLATED +en A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs HP:0033528 IAO:0000115 nl A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs NOT_TRANSLATED +en A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol HP:0031031 IAO:0000115 nl A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol NOT_TRANSLATED +en A deviation from normal concentration of estriol in the circulation HP:0025135 IAO:0000115 nl A deviation from normal concentration of estriol in the circulation NOT_TRANSLATED +en A deviation from normal concentration of glucose content in the cerebrospinal fluid HP:0031884 IAO:0000115 nl A deviation from normal concentration of glucose content in the cerebrospinal fluid NOT_TRANSLATED +en A deviation from normal concentration of the hormone estrogen in the blood circulation HP:0025132 IAO:0000115 nl A deviation from normal concentration of the hormone estrogen in the blood circulation NOT_TRANSLATED +en A deviation from normal concentrations of estradiol in the circulation HP:0025133 IAO:0000115 nl A deviation from normal concentrations of estradiol in the circulation NOT_TRANSLATED +en A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates HP:0030119 IAO:0000115 nl A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates NOT_TRANSLATED +en A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina HP:0030096 IAO:0000115 nl A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina NOT_TRANSLATED +en A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein HP:0030224 IAO:0000115 nl A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein NOT_TRANSLATED +en A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing HP:0030113 IAO:0000115 nl A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing NOT_TRANSLATED +en A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein HP:0030226 IAO:0000115 nl A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein NOT_TRANSLATED +en A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family HP:0030228 IAO:0000115 nl A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family NOT_TRANSLATED +en A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025052 IAO:0000115 nl A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025047 IAO:0000115 nl A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) HP:0034496 IAO:0000115 nl A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS) HP:0012709 IAO:0000115 nl A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly HP:0030112 IAO:0000115 nl A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly NOT_TRANSLATED +en A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 HP:0030093 IAO:0000115 nl A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 NOT_TRANSLATED +en A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue HP:0030116 IAO:0000115 nl A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue NOT_TRANSLATED +en A deviation from normal of the concentration of 2-oxoglutaric acid in the urine HP:0012401 IAO:0000115 nl A deviation from normal of the concentration of 2-oxoglutaric acid in the urine NOT_TRANSLATED +en A deviation from normal of the concentration of citrate(3-) in the urine HP:0012404 IAO:0000115 nl A deviation from normal of the concentration of citrate(3-) in the urine NOT_TRANSLATED +en A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) HP:0012769 IAO:0000115 nl A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) NOT_TRANSLATED +en A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025045 IAO:0000115 nl A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters HP:0025065 IAO:0000115 nl A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters NOT_TRANSLATED +en A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities HP:0012759 IAO:0000115 nl A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities NOT_TRANSLATED +en A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis HP:0012772 IAO:0000115 nl A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis NOT_TRANSLATED +en A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement HP:0031818 IAO:0000115 nl A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement NOT_TRANSLATED +en A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) HP:0030376 IAO:0000115 nl A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) NOT_TRANSLATED +en A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling HP:0025021 IAO:0000115 nl A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling NOT_TRANSLATED +en A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia HP:0012751 IAO:0000115 nl A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia NOT_TRANSLATED +en A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem HP:0012747 IAO:0000115 nl A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem NOT_TRANSLATED +en A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus HP:0012696 IAO:0000115 nl A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus NOT_TRANSLATED +en A deviation from normal size of the placenta HP:0012767 IAO:0000115 nl A deviation from normal size of the placenta NOT_TRANSLATED +en A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation HP:0033749 IAO:0000115 nl A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation NOT_TRANSLATED +en A deviation from the norm of the intracranial pressure HP:0012640 IAO:0000115 nl A deviation from the norm of the intracranial pressure NOT_TRANSLATED +en A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X HP:0030976 IAO:0000115 nl A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X NOT_TRANSLATED +en A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation HP:0030123 IAO:0000115 nl A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation NOT_TRANSLATED +en A deviation from the normal amount of time required for food to pass through the intestines HP:0030896 IAO:0000115 nl A deviation from the normal amount of time required for food to pass through the intestines NOT_TRANSLATED +en A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier HP:0031034 IAO:0000115 nl A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier NOT_TRANSLATED +en A deviation from the normal circular shape of the pupil HP:0025309 IAO:0000115 nl A deviation from the normal circular shape of the pupil NOT_TRANSLATED +en A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP) HP:0031138 IAO:0000115 nl A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP) NOT_TRANSLATED +en A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism HP:0030684 IAO:0000115 nl A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism NOT_TRANSLATED +en A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma HP:0040133 IAO:0000115 nl A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma NOT_TRANSLATED +en A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) HP:0500012 IAO:0000115 nl A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) NOT_TRANSLATED +en A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation HP:0025201 IAO:0000115 nl A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation NOT_TRANSLATED +en A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) HP:0033298 IAO:0000115 nl A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1) NOT_TRANSLATED +en A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels HP:0031439 IAO:0000115 nl A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels NOT_TRANSLATED +en A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood HP:0031438 IAO:0000115 nl A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood NOT_TRANSLATED +en A deviation from the normal concentration of a carbohydrate in the blood circulation HP:0011013 IAO:0000115 nl A deviation from the normal concentration of a carbohydrate in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of a fatty acid in the blood circulation HP:0004359 IAO:0000115 nl A deviation from the normal concentration of a fatty acid in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group HP:0033435 IAO:0000115 nl A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group NOT_TRANSLATED +en A deviation from the normal concentration of a polysaccharide in the blood circulation HP:0011012 IAO:0000115 nl A deviation from the normal concentration of a polysaccharide in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands HP:0410282 IAO:0000115 nl A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands NOT_TRANSLATED +en A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation HP:0011022 IAO:0000115 nl A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood HP:0025465 IAO:0000115 nl A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood NOT_TRANSLATED +en A deviation from the normal concentration of beta-2-microglobulin in the blood HP:0025345 IAO:0000115 nl A deviation from the normal concentration of beta-2-microglobulin in the blood NOT_TRANSLATED +en A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover HP:0031424 IAO:0000115 nl A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover NOT_TRANSLATED +en A deviation from the normal concentration of biopterin in the blood circulation HP:0040210 IAO:0000115 nl A deviation from the normal concentration of biopterin in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of circulating estrone HP:0025138 IAO:0000115 nl A deviation from the normal concentration of circulating estrone NOT_TRANSLATED +en A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins HP:0040126 IAO:0000115 nl A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins NOT_TRANSLATED +en A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells HP:0012113 IAO:0000115 nl A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells NOT_TRANSLATED +en A deviation from the normal concentration of dehydroepiandrosterone in the circulation HP:0500022 IAO:0000115 nl A deviation from the normal concentration of dehydroepiandrosterone in the circulation NOT_TRANSLATED +en A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects HP:0033076 IAO:0000115 nl A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects NOT_TRANSLATED +en A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3 HP:0032209 IAO:0000115 nl A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3 NOT_TRANSLATED +en A deviation from the normal concentration of glucagon in the blood circulation HP:0030687 IAO:0000115 nl A deviation from the normal concentration of glucagon in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of haptoglobin in the blood circulation HP:0020179 IAO:0000115 nl A deviation from the normal concentration of haptoglobin in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of hyaluronic acid in the blood HP:0031210 IAO:0000115 nl A deviation from the normal concentration of hyaluronic acid in the blood NOT_TRANSLATED +en A deviation from the normal concentration of lipoprotein lipase in the blood circulation HP:0033477 IAO:0000115 nl A deviation from the normal concentration of lipoprotein lipase in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of osteocalcin in the blood circulation HP:0031427 IAO:0000115 nl A deviation from the normal concentration of osteocalcin in the blood circulation NOT_TRANSLATED +en A deviation from the normal concentration of properdin in the blood HP:0031300 IAO:0000115 nl A deviation from the normal concentration of properdin in the blood NOT_TRANSLATED +en A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions HP:0040084 IAO:0000115 nl A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions NOT_TRANSLATED +en A deviation from the normal concentration of serum bile acid concentration HP:0030984 IAO:0000115 nl A deviation from the normal concentration of serum bile acid concentration NOT_TRANSLATED +en A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones HP:0025483 IAO:0000115 nl A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones NOT_TRANSLATED +en A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) HP:0031505 IAO:0000115 nl A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) NOT_TRANSLATED +en A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated HP:0012529 IAO:0000115 nl A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated NOT_TRANSLATED +en A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor HP:0012527 IAO:0000115 nl A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor NOT_TRANSLATED +en A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells HP:0010975 IAO:0000115 nl A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells NOT_TRANSLATED +en A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells HP:0030335 IAO:0000115 nl A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells NOT_TRANSLATED +en A deviation from the normal count of T cells HP:0011839 IAO:0000115 nl A deviation from the normal count of T cells NOT_TRANSLATED +en A deviation from the normal count of alpha granules per thrombocyte HP:0012528 IAO:0000115 nl A deviation from the normal count of alpha granules per thrombocyte NOT_TRANSLATED +en A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative) HP:0020178 IAO:0000115 nl A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative) NOT_TRANSLATED +en A deviation from the normal count of dense granules per thrombocyte HP:0012530 IAO:0000115 nl A deviation from the normal count of dense granules per thrombocyte NOT_TRANSLATED +en A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow HP:0012131 IAO:0000115 nl A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow NOT_TRANSLATED +en A deviation from the normal discoid platelet shape HP:0012524 IAO:0000115 nl A deviation from the normal discoid platelet shape NOT_TRANSLATED +en A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U) HP:0032572 IAO:0000115 nl A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U) NOT_TRANSLATED +en A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface HP:0031389 IAO:0000115 nl A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface NOT_TRANSLATED +en A deviation from the normal number of mitochondria per cell HP:0012102 IAO:0000115 nl A deviation from the normal number of mitochondria per cell NOT_TRANSLATED +en A deviation from the normal number of pulmonary fissures HP:0032993 IAO:0000115 nl A deviation from the normal number of pulmonary fissures NOT_TRANSLATED +en A deviation from the normal number of vertebrae in the spinal column HP:0030304 IAO:0000115 nl A deviation from the normal number of vertebrae in the spinal column NOT_TRANSLATED +en A deviation from the normal odor of the urine HP:0012088 IAO:0000115 nl A deviation from the normal odor of the urine NOT_TRANSLATED +en A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells HP:0020111 IAO:0000115 nl A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells NOT_TRANSLATED +en A deviation from the normal proportion of exhausted T cell relative to T cell in the blood HP:0041080 IAO:0000115 nl A deviation from the normal proportion of exhausted T cell relative to T cell in the blood NOT_TRANSLATED +en A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination HP:0032127 IAO:0000115 nl A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination NOT_TRANSLATED +en A deviation from the normal proportion of terminal to vellus hairs HP:0032495 IAO:0000115 nl A deviation from the normal proportion of terminal to vellus hairs NOT_TRANSLATED +en A deviation from the normal range of concentration of particles in urine HP:0033358 IAO:0000115 nl A deviation from the normal range of concentration of particles in urine NOT_TRANSLATED +en A deviation from the normal range of manganese in the blood circulation HP:0032096 IAO:0000115 nl A deviation from the normal range of manganese in the blood circulation NOT_TRANSLATED +en A deviation from the normal range of neutrophil cell counts in the circulation HP:0011991 IAO:0000115 nl A deviation from the normal range of neutrophil cell counts in the circulation NOT_TRANSLATED +en A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced HP:0025546 IAO:0000115 nl A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced NOT_TRANSLATED +en A deviation from the normal range of the left ventricular endsystolic diameter HP:0034385 IAO:0000115 nl A deviation from the normal range of the left ventricular endsystolic diameter NOT_TRANSLATED +en A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF HP:0030981 IAO:0000115 nl A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF NOT_TRANSLATED +en A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel HP:0004794 IAO:0000115 nl A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel NOT_TRANSLATED +en A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate HP:0045040 IAO:0000115 nl A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate NOT_TRANSLATED +en A deviation from the normal size of the pancreas HP:0012094 IAO:0000115 nl A deviation from the normal size of the pancreas NOT_TRANSLATED +en A deviation from the normal size of the pituitary gland HP:0012504 IAO:0000115 nl A deviation from the normal size of the pituitary gland NOT_TRANSLATED +en A deviation from the normal straight form of one or more distal toe phalanges HP:0010188 IAO:0000115 nl A deviation from the normal straight form of one or more distal toe phalanges NOT_TRANSLATED +en A deviation from the normal straight form of one or more middle toe phalanges HP:0010197 IAO:0000115 nl A deviation from the normal straight form of one or more middle toe phalanges NOT_TRANSLATED +en A deviation from the normal straight form of one or more phalanges of the big toe HP:0010061 IAO:0000115 nl A deviation from the normal straight form of one or more phalanges of the big toe NOT_TRANSLATED +en A deviation from the normal straight form of one or more phalanges of the fifth toe HP:0010386 IAO:0000115 nl A deviation from the normal straight form of one or more phalanges of the fifth toe NOT_TRANSLATED +en A deviation from the normal straight form of one or more phalanges of the fourth toe HP:0010374 IAO:0000115 nl A deviation from the normal straight form of one or more phalanges of the fourth toe NOT_TRANSLATED +en A deviation from the normal straight form of one or more phalanges of the second toe HP:0010350 IAO:0000115 nl A deviation from the normal straight form of one or more phalanges of the second toe NOT_TRANSLATED +en A deviation from the normal straight form of one or more phalanges of the third toe HP:0010362 IAO:0000115 nl A deviation from the normal straight form of one or more phalanges of the third toe NOT_TRANSLATED +en A deviation from the normal straight form of one or more toe phalanges HP:0010176 IAO:0000115 nl A deviation from the normal straight form of one or more toe phalanges NOT_TRANSLATED +en A deviation from the normal straight form of the distal phalanx of the 2nd toe HP:0010416 IAO:0000115 nl A deviation from the normal straight form of the distal phalanx of the 2nd toe NOT_TRANSLATED +en A deviation from the normal straight form of the distal phalanx of the big toe HP:0010079 IAO:0000115 nl A deviation from the normal straight form of the distal phalanx of the big toe NOT_TRANSLATED +en A deviation from the normal straight form of the distal phalanx of the fifth toe HP:0100451 IAO:0000115 nl A deviation from the normal straight form of the distal phalanx of the fifth toe NOT_TRANSLATED +en A deviation from the normal straight form of the distal phalanx of the fourth toe HP:0100450 IAO:0000115 nl A deviation from the normal straight form of the distal phalanx of the fourth toe NOT_TRANSLATED +en A deviation from the normal straight form of the distal phalanx of the third toe HP:0100449 IAO:0000115 nl A deviation from the normal straight form of the distal phalanx of the third toe NOT_TRANSLATED +en A deviation from the normal straight form of the middle phalanx of the 2nd toe HP:0010407 IAO:0000115 nl A deviation from the normal straight form of the middle phalanx of the 2nd toe NOT_TRANSLATED +en A deviation from the normal straight form of the middle phalanx of the fifth toe HP:0100445 IAO:0000115 nl A deviation from the normal straight form of the middle phalanx of the fifth toe NOT_TRANSLATED +en A deviation from the normal straight form of the middle phalanx of the fourth toe HP:0100444 IAO:0000115 nl A deviation from the normal straight form of the middle phalanx of the fourth toe NOT_TRANSLATED +en A deviation from the normal straight form of the middle phalanx of the third toe HP:0100443 IAO:0000115 nl A deviation from the normal straight form of the middle phalanx of the third toe NOT_TRANSLATED +en A deviation from the normal straight form of the proximal phalanx of the 2nd toe HP:0010398 IAO:0000115 nl A deviation from the normal straight form of the proximal phalanx of the 2nd toe NOT_TRANSLATED +en A deviation from the normal straight form of the proximal phalanx of the big toe HP:0010088 IAO:0000115 nl A deviation from the normal straight form of the proximal phalanx of the big toe NOT_TRANSLATED +en A deviation from the normal straight form of the proximal phalanx of the fifth toe HP:0100448 IAO:0000115 nl A deviation from the normal straight form of the proximal phalanx of the fifth toe NOT_TRANSLATED +en A deviation from the normal straight form of the proximal phalanx of the fourth toe HP:0100447 IAO:0000115 nl A deviation from the normal straight form of the proximal phalanx of the fourth toe NOT_TRANSLATED +en A deviation from the normal straight form of the proximal phalanx of the third toe HP:0100446 IAO:0000115 nl A deviation from the normal straight form of the proximal phalanx of the third toe NOT_TRANSLATED +en A deviation from the normal straight shape of a proximal phalanx of one or more toes HP:0010206 IAO:0000115 nl A deviation from the normal straight shape of a proximal phalanx of one or more toes NOT_TRANSLATED +en A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone HP:0010070 IAO:0000115 nl A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone NOT_TRANSLATED +en A deviation from the normal straight shape of a thumb phalanx HP:0009653 IAO:0000115 nl A deviation from the normal straight shape of a thumb phalanx NOT_TRANSLATED +en A deviation from the normal straight shape of the distal phalanx of the thumb HP:0009644 IAO:0000115 nl A deviation from the normal straight shape of the distal phalanx of the thumb NOT_TRANSLATED +en A deviation from the normal straight shape of the first metacarpal HP:0010029 IAO:0000115 nl A deviation from the normal straight shape of the first metacarpal NOT_TRANSLATED +en A deviation from the normal straight shape of the proximal phalanx of the thumb HP:0009632 IAO:0000115 nl A deviation from the normal straight shape of the proximal phalanx of the thumb NOT_TRANSLATED +en A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia HP:0012265 IAO:0000115 nl A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia NOT_TRANSLATED +en A deviation in any aspect of the alternative complement pathway HP:0005482 IAO:0000115 nl A deviation in any aspect of the alternative complement pathway NOT_TRANSLATED +en A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen HP:0030370 IAO:0000115 nl A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen NOT_TRANSLATED +en A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells HP:0030379 IAO:0000115 nl A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells NOT_TRANSLATED +en A deviation in the size of nasopharyngeal adenoids HP:0040257 IAO:0000115 nl A deviation in the size of nasopharyngeal adenoids NOT_TRANSLATED +en A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA HP:0030386 IAO:0000115 nl A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA NOT_TRANSLATED +en A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells HP:0030383 IAO:0000115 nl A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells NOT_TRANSLATED +en A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) HP:0030373 IAO:0000115 nl A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) NOT_TRANSLATED +en A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells HP:0032124 IAO:0000115 nl A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells NOT_TRANSLATED +en A deviation of urine pH from the normal range of 4.5 to 7.8 HP:0032943 IAO:0000115 nl A deviation of urine pH from the normal range of 4.5 to 7.8 NOT_TRANSLATED +en A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract HP:0010875 IAO:0000115 nl A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract NOT_TRANSLATED +en A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event HP:0011146 IAO:0000115 nl A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event NOT_TRANSLATED +en A difference in length or diameter between the left and right leg HP:0100559 IAO:0000115 nl A difference in length or diameter between the left and right leg NOT_TRANSLATED +en A difference in size or shape between the left and right foot HP:0010507 IAO:0000115 nl A difference in size or shape between the left and right foot NOT_TRANSLATED +en A difference in the amount of intraocular pressure in the right and left eye HP:0012633 IAO:0000115 nl A difference in the amount of intraocular pressure in the right and left eye NOT_TRANSLATED +en A diffuse and specific increase in the number of alpha-cells HP:4000061 IAO:0000115 nl A diffuse and specific increase in the number of alpha-cells NOT_TRANSLATED +en A diffuse form of amyloidosis HP:0003216 IAO:0000115 nl A diffuse form of amyloidosis NOT_TRANSLATED +en A diffuse form of hepatic steatosis HP:0006555 IAO:0000115 nl A diffuse form of hepatic steatosis NOT_TRANSLATED +en A diffuse loss of myelin from nerve fibers in the central nervous system HP:0007162 IAO:0000115 nl A diffuse loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED +en A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system HP:0006881 IAO:0000115 nl A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED +en A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet HP:0200028 IAO:0000115 nl A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet NOT_TRANSLATED +en A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images HP:0032615 IAO:0000115 nl A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images NOT_TRANSLATED +en A digit with two nails, with at least some soft tissue between them HP:0010793 IAO:0000115 nl A digit with two nails, with at least some soft tissue between them NOT_TRANSLATED +en A dilatation (balooning or bulging out of the vessel wall) of a carotid artery HP:0012163 IAO:0000115 nl A dilatation (balooning or bulging out of the vessel wall) of a carotid artery NOT_TRANSLATED +en A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum HP:0025434 IAO:0000115 nl A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum NOT_TRANSLATED +en A diminished concentration of interleukin-7 in the circulation HP:0034486 IAO:0000115 nl A diminished concentration of interleukin-7 in the circulation NOT_TRANSLATED +en A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes HP:4000081 IAO:0000115 nl A diminished use of typical non-verbal conversational gestures such as shaing the head to indicate no or nodding the head to indicate yes NOT_TRANSLATED +en A diminished volume of the central part of the bed nucleus of the stria terminalis HP:0030797 IAO:0000115 nl A diminished volume of the central part of the bed nucleus of the stria terminalis NOT_TRANSLATED +en A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse HP:0032553 IAO:0000115 nl A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse NOT_TRANSLATED +en A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians HP:0030522 IAO:0000115 nl A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians NOT_TRANSLATED +en A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle HP:0012664 IAO:0000115 nl A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle NOT_TRANSLATED +en A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat HP:0200042 IAO:0000115 nl A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat NOT_TRANSLATED +en A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed HP:0200041 IAO:0000115 nl A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed NOT_TRANSLATED +en A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra HP:0004616 IAO:0000115 nl A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra NOT_TRANSLATED +en A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base HP:0005266 IAO:0000115 nl A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base NOT_TRANSLATED +en A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base HP:0012737 IAO:0000115 nl A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base NOT_TRANSLATED +en A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location HP:0011857 IAO:0000115 nl A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location NOT_TRANSLATED +en A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle HP:0007291 IAO:0000115 nl A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle NOT_TRANSLATED +en A disease or lesion affecting the muscles of the thorax HP:0009131 IAO:0000115 nl A disease or lesion affecting the muscles of the thorax NOT_TRANSLATED +en A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply HP:0010885 IAO:0000115 nl A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply NOT_TRANSLATED +en A dislocation of the head of the radius from its socket in the elbow joint HP:0003083 IAO:0000115 nl A dislocation of the head of the radius from its socket in the elbow joint NOT_TRANSLATED +en A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction HP:0005084 IAO:0000115 nl A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction NOT_TRANSLATED +en A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction HP:0005050 IAO:0000115 nl A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction NOT_TRANSLATED +en A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction HP:0005798 IAO:0000115 nl A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction NOT_TRANSLATED +en A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction HP:0005070 IAO:0000115 nl A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction NOT_TRANSLATED +en A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction HP:0005856 IAO:0000115 nl A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction NOT_TRANSLATED +en A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses) HP:0002655 IAO:0000115 nl A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses) NOT_TRANSLATED +en A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus HP:0002571 IAO:0000115 nl A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus NOT_TRANSLATED +en A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells HP:0012180 IAO:0000115 nl A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells NOT_TRANSLATED +en A disorder of muscle unrelated to impairment of innervation or neuromuscular junction HP:0003198 IAO:0000115 nl A disorder of muscle unrelated to impairment of innervation or neuromuscular junction NOT_TRANSLATED +en A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity HP:0002383 IAO:0000115 nl A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity NOT_TRANSLATED +en A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway HP:0001716 IAO:0000115 nl A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway NOT_TRANSLATED +en A disordered proliferation of mature tissues that are native to the kidneys HP:0008696 IAO:0000115 nl A disordered proliferation of mature tissues that are native to the kidneys NOT_TRANSLATED +en A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma HP:0010566 IAO:0000115 nl A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma NOT_TRANSLATED +en A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina) HP:0100627 IAO:0000115 nl A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina) NOT_TRANSLATED +en A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation HP:0003834 IAO:0000115 nl A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation NOT_TRANSLATED +en A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration HP:0032940 IAO:0000115 nl A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration NOT_TRANSLATED +en A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes HP:0031333 IAO:0000115 nl A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes NOT_TRANSLATED +en A dissemination viral infection caused by a live attenuated vaccine virus HP:0031697 IAO:0000115 nl A dissemination viral infection caused by a live attenuated vaccine virus NOT_TRANSLATED +en A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side HP:0012318 IAO:0000115 nl A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side NOT_TRANSLATED +en A distortion of the sense of taste, often characterized by the sensation of a metallic taste HP:0031249 IAO:0000115 nl A distortion of the sense of taste, often characterized by the sensation of a metallic taste NOT_TRANSLATED +en A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge HP:0031450 IAO:0000115 nl A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge NOT_TRANSLATED +en A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia HP:0033051 IAO:0000115 nl A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia NOT_TRANSLATED +en A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011653 IAO:0000115 nl A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011654 IAO:0000115 nl A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011651 IAO:0000115 nl A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011652 IAO:0000115 nl A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011655 IAO:0000115 nl A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011656 IAO:0000115 nl A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011657 IAO:0000115 nl A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0011658 IAO:0000115 nl A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice HP:0000081 IAO:0000115 nl A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice NOT_TRANSLATED +en A duplication of the renal pelvis HP:0005580 IAO:0000115 nl A duplication of the renal pelvis NOT_TRANSLATED +en A elevated concentration of cystatin C in the blood circulation HP:0032998 IAO:0000115 nl A elevated concentration of cystatin C in the blood circulation NOT_TRANSLATED +en A elevation in the rate of apoptosis in lymphocytes HP:0030887 IAO:0000115 nl A elevation in the rate of apoptosis in lymphocytes NOT_TRANSLATED +en A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain HP:0032149 IAO:0000115 nl A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain NOT_TRANSLATED +en A face that is short and narrow HP:0000274 IAO:0000115 nl A face that is short and narrow NOT_TRANSLATED +en A face with a rounded and slightly elongated outline HP:0000300 IAO:0000115 nl A face with a rounded and slightly elongated outline NOT_TRANSLATED +en A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose HP:0002009 IAO:0000115 nl A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose NOT_TRANSLATED +en A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness HP:0002058 IAO:0000115 nl A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness NOT_TRANSLATED +en A facial appearance characterized by a permanently or nearly permanently opened mouth HP:0000194 IAO:0000115 nl A facial appearance characterized by a permanently or nearly permanently opened mouth NOT_TRANSLATED +en A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle HP:0200096 IAO:0000115 nl A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle NOT_TRANSLATED +en A facial cleft characterized by involvement of the orbit HP:0031574 IAO:0000115 nl A facial cleft characterized by involvement of the orbit NOT_TRANSLATED +en A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid HP:0031578 IAO:0000115 nl A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid NOT_TRANSLATED +en A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months HP:0033128 IAO:0000115 nl A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months NOT_TRANSLATED +en A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age HP:0025336 IAO:0000115 nl A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age NOT_TRANSLATED +en A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months HP:0025335 IAO:0000115 nl A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months NOT_TRANSLATED +en A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months HP:0031936 IAO:0000115 nl A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months NOT_TRANSLATED +en A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage HP:0033257 IAO:0000115 nl A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage NOT_TRANSLATED +en A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization HP:0031067 IAO:0000115 nl A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization NOT_TRANSLATED +en A failure to develop of the lower part of the vagina HP:0012674 IAO:0000115 nl A failure to develop of the lower part of the vagina NOT_TRANSLATED +en A failure to develop of the upper vagina HP:0012673 IAO:0000115 nl A failure to develop of the upper vagina NOT_TRANSLATED +en A failure to meet one or more age-related milestones of social behavior HP:0012434 IAO:0000115 nl A failure to meet one or more age-related milestones of social behavior NOT_TRANSLATED +en A failure to sustain attention that requires self-motivation to optimize performance HP:0033236 IAO:0000115 nl A failure to sustain attention that requires self-motivation to optimize performance NOT_TRANSLATED +en A false belief that is held despite evidence to the contrary HP:0000746 IAO:0000115 nl A false belief that is held despite evidence to the contrary NOT_TRANSLATED +en A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma HP:0004376 IAO:0000115 nl A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma NOT_TRANSLATED +en A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years HP:0002373 IAO:0000115 nl A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years NOT_TRANSLATED +en A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period HP:0011172 IAO:0000115 nl A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period NOT_TRANSLATED +en A feeling of general discomfort, weakness, or lack of health HP:0033834 IAO:0000115 nl A feeling of general discomfort, weakness, or lack of health NOT_TRANSLATED +en A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening HP:0033625 IAO:0000115 nl A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening NOT_TRANSLATED +en A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control HP:0033705 IAO:0000115 nl A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control NOT_TRANSLATED +en A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) HP:0012452 IAO:0000115 nl A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia) NOT_TRANSLATED +en A feeling that something life-threatening or tragic is about to occur HP:0033845 IAO:0000115 nl A feeling that something life-threatening or tragic is about to occur NOT_TRANSLATED +en A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry HP:4000142 IAO:0000115 nl A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry NOT_TRANSLATED +en A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells HP:0100244 IAO:0000115 nl A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells NOT_TRANSLATED +en A fibroma of the heart HP:0010617 IAO:0000115 nl A fibroma of the heart NOT_TRANSLATED +en A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly HP:0100572 IAO:0000115 nl A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly NOT_TRANSLATED +en A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009375 IAO:0000115 nl A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart HP:0010942 IAO:0000115 nl A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart NOT_TRANSLATED +en A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance HP:0025176 IAO:0000115 nl A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance NOT_TRANSLATED +en A finger resting on the dorsal surface of an adjacent digit when the hand is at rest HP:0010557 IAO:0000115 nl A finger resting on the dorsal surface of an adjacent digit when the hand is at rest NOT_TRANSLATED +en A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus HP:0010947 IAO:0000115 nl A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus NOT_TRANSLATED +en A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein HP:0010949 IAO:0000115 nl A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein NOT_TRANSLATED +en A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA) HP:0410022 IAO:0000115 nl A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA) NOT_TRANSLATED +en A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla HP:0030690 IAO:0000115 nl A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla NOT_TRANSLATED +en A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate HP:0010294 IAO:0000115 nl A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate NOT_TRANSLATED +en A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners HP:4000077 IAO:0000115 nl A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners NOT_TRANSLATED +en A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve HP:0001682 IAO:0000115 nl A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve NOT_TRANSLATED +en A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures HP:0000581 IAO:0000115 nl A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures NOT_TRANSLATED +en A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only HP:0007946 IAO:0000115 nl A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only NOT_TRANSLATED +en A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin HP:0012733 IAO:0000115 nl A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin NOT_TRANSLATED +en A flattened vertebral body shape with reduced distance between the vertebral endplates HP:0000926 IAO:0000115 nl A flattened vertebral body shape with reduced distance between the vertebral endplates NOT_TRANSLATED +en A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine HP:0004558 IAO:0000115 nl A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine NOT_TRANSLATED +en A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine HP:0005787 IAO:0000115 nl A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine NOT_TRANSLATED +en A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine HP:0004592 IAO:0000115 nl A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine NOT_TRANSLATED +en A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline HP:0012806 IAO:0000115 nl A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline NOT_TRANSLATED +en A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints HP:0001371 IAO:0000115 nl A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints NOT_TRANSLATED +en A fluid filled cavity that develops with a bone HP:0012062 IAO:0000115 nl A fluid filled cavity that develops with a bone NOT_TRANSLATED +en A fluid filled sac in the kidney HP:0000107 IAO:0000115 nl A fluid filled sac in the kidney NOT_TRANSLATED +en A fluid filled sac located in the Fallopian tube HP:0012883 IAO:0000115 nl A fluid filled sac located in the Fallopian tube NOT_TRANSLATED +en A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle HP:0032072 IAO:0000115 nl A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle NOT_TRANSLATED +en A fluid-filled sac (cyst) located within the central nervous system HP:0030724 IAO:0000115 nl A fluid-filled sac (cyst) located within the central nervous system NOT_TRANSLATED +en A fluid-filled sacs that develop on or near the pituitary gland HP:0410278 IAO:0000115 nl A fluid-filled sacs that develop on or near the pituitary gland NOT_TRANSLATED +en A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid) HP:0025148 IAO:0000115 nl A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid) NOT_TRANSLATED +en A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032728 IAO:0000115 nl A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure characterised by impaired awareness at some point within the seizure HP:0032755 IAO:0000115 nl A focal autonomic seizure characterised by impaired awareness at some point within the seizure NOT_TRANSLATED +en A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure HP:0032778 IAO:0000115 nl A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure HP:0032785 IAO:0000115 nl A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure HP:0032780 IAO:0000115 nl A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure with erection characterized by retained awareness throughout the seizure HP:0032770 IAO:0000115 nl A focal autonomic seizure with erection characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure HP:0032782 IAO:0000115 nl A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure HP:0032777 IAO:0000115 nl A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure HP:0032761 IAO:0000115 nl A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure HP:0032788 IAO:0000115 nl A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure HP:0032783 IAO:0000115 nl A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure HP:0032779 IAO:0000115 nl A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure HP:0032768 IAO:0000115 nl A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure HP:0032774 IAO:0000115 nl A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure HP:0032781 IAO:0000115 nl A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout HP:0032740 IAO:0000115 nl A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout NOT_TRANSLATED +en A focal aware cognitive seizure during which awareness is retained throughout the seizure HP:0032681 IAO:0000115 nl A focal aware cognitive seizure during which awareness is retained throughout the seizure NOT_TRANSLATED +en A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure HP:0032790 IAO:0000115 nl A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal behavior arrest seizure characterised by retained awareness throughout the seizure HP:0032789 IAO:0000115 nl A focal behavior arrest seizure characterised by retained awareness throughout the seizure NOT_TRANSLATED +en A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure HP:0032714 IAO:0000115 nl A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive HP:0002266 IAO:0000115 nl A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive NOT_TRANSLATED +en A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation HP:0012008 IAO:0000115 nl A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation HP:0032689 IAO:0000115 nl A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by anomia as the initial semiological manifestation HP:0032701 IAO:0000115 nl A focal cognitive seizure characterized by anomia as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing HP:0032685 IAO:0000115 nl A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing NOT_TRANSLATED +en A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation HP:0032698 IAO:0000115 nl A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation HP:0032691 IAO:0000115 nl A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation HP:0032699 IAO:0000115 nl A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation HP:0032694 IAO:0000115 nl A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation HP:0032702 IAO:0000115 nl A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation HP:0032692 IAO:0000115 nl A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by hallucination as the initial semiological manifestation HP:0012007 IAO:0000115 nl A focal cognitive seizure characterized by hallucination as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation HP:0032700 IAO:0000115 nl A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation HP:0012004 IAO:0000115 nl A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by neglect as the initial semiological manifestation HP:0032693 IAO:0000115 nl A focal cognitive seizure characterized by neglect as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation HP:0032696 IAO:0000115 nl A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation NOT_TRANSLATED +en A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia) HP:0032687 IAO:0000115 nl A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia) NOT_TRANSLATED +en A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032756 IAO:0000115 nl A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure HP:0032680 IAO:0000115 nl A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure NOT_TRANSLATED +en A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure HP:0032791 IAO:0000115 nl A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure HP:0032708 IAO:0000115 nl A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure HP:0032874 IAO:0000115 nl A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure HP:0032684 IAO:0000115 nl A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure HP:0032852 IAO:0000115 nl A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure HP:0032876 IAO:0000115 nl A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure HP:0032882 IAO:0000115 nl A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure HP:0032883 IAO:0000115 nl A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure HP:0032879 IAO:0000115 nl A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure HP:0032688 IAO:0000115 nl A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure HP:0032802 IAO:0000115 nl A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure HP:0032690 IAO:0000115 nl A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure HP:0032803 IAO:0000115 nl A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure HP:0032709 IAO:0000115 nl A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure HP:0032870 IAO:0000115 nl A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure HP:0032707 IAO:0000115 nl A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure HP:0032886 IAO:0000115 nl A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure HP:0032850 IAO:0000115 nl A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure HP:0032888 IAO:0000115 nl A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure HP:0032705 IAO:0000115 nl A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure HP:0032885 IAO:0000115 nl A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure HP:0032871 IAO:0000115 nl A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure HP:0032872 IAO:0000115 nl A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure HP:0032704 IAO:0000115 nl A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure HP:0032796 IAO:0000115 nl A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure HP:0032706 IAO:0000115 nl A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure HP:0032801 IAO:0000115 nl A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure HP:0032686 IAO:0000115 nl A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure HP:0032798 IAO:0000115 nl A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure HP:0032848 IAO:0000115 nl A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure HP:0032793 IAO:0000115 nl A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure NOT_TRANSLATED +en A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure HP:0032710 IAO:0000115 nl A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core HP:0032617 IAO:0000115 nl A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core NOT_TRANSLATED +en A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture HP:0031648 IAO:0000115 nl A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture NOT_TRANSLATED +en A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument HP:0002356 IAO:0000115 nl A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument NOT_TRANSLATED +en A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids HP:0000643 IAO:0000115 nl A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids NOT_TRANSLATED +en A focal emotional seizure during which awareness is retained throughout the seizure HP:0032734 IAO:0000115 nl A focal emotional seizure during which awareness is retained throughout the seizure NOT_TRANSLATED +en A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032746 IAO:0000115 nl A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure HP:0032753 IAO:0000115 nl A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal hemiclonic seizure in which awareness is impaired at some point during the seizure HP:0032799 IAO:0000115 nl A focal hemiclonic seizure in which awareness is impaired at some point during the seizure NOT_TRANSLATED +en A focal hemiclonic seizure in which awareness is retained throughout HP:0032757 IAO:0000115 nl A focal hemiclonic seizure in which awareness is retained throughout NOT_TRANSLATED +en A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032726 IAO:0000115 nl A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution HP:0009831 IAO:0000115 nl A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution NOT_TRANSLATED +en A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation HP:0032721 IAO:0000115 nl A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation NOT_TRANSLATED +en A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures HP:0032718 IAO:0000115 nl A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures NOT_TRANSLATED +en A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure HP:0032719 IAO:0000115 nl A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure HP:0032733 IAO:0000115 nl A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure HP:0032717 IAO:0000115 nl A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal motor seizure with dystonia characterized by retained awareness throughout the seizure HP:0032723 IAO:0000115 nl A focal motor seizure with dystonia characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure HP:0032858 IAO:0000115 nl A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure NOT_TRANSLATED +en A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure HP:0032857 IAO:0000115 nl A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure HP:0032859 IAO:0000115 nl A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure HP:0032732 IAO:0000115 nl A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal motor seizure with version characterized by impaired awareness at some point during the seizure HP:0032713 IAO:0000115 nl A focal motor seizure with version characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal motor seizure with version characterized by retained awareness throughout the seizure HP:0032891 IAO:0000115 nl A focal motor seizure with version characterized by retained awareness throughout the seizure NOT_TRANSLATED +en A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032730 IAO:0000115 nl A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal non-motor seizure characterized by impaired awareness at some point during the seizure HP:0032716 IAO:0000115 nl A focal non-motor seizure characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en A focal non-motor seizure in which awareness is retained throughout the seizure HP:0032682 IAO:0000115 nl A focal non-motor seizure in which awareness is retained throughout the seizure NOT_TRANSLATED +en A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity HP:0032898 IAO:0000115 nl A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity NOT_TRANSLATED +en A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements HP:0011174 IAO:0000115 nl A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements NOT_TRANSLATED +en A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature HP:0020220 IAO:0000115 nl A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature NOT_TRANSLATED +en A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure HP:0032909 IAO:0000115 nl A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure during which awareness is retained throughout the seizure HP:0032754 IAO:0000115 nl A focal sensory seizure during which awareness is retained throughout the seizure NOT_TRANSLATED +en A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032787 IAO:0000115 nl A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure is a type seizure beginning with a subjective sensation HP:0011157 IAO:0000115 nl A focal sensory seizure is a type seizure beginning with a subjective sensation NOT_TRANSLATED +en A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure HP:0032880 IAO:0000115 nl A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure HP:0032878 IAO:0000115 nl A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure HP:0032897 IAO:0000115 nl A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure HP:0032853 IAO:0000115 nl A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure HP:0032804 IAO:0000115 nl A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure HP:0032890 IAO:0000115 nl A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure HP:0032805 IAO:0000115 nl A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure HP:0032806 IAO:0000115 nl A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032724 IAO:0000115 nl A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected HP:0005588 IAO:0000115 nl A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected NOT_TRANSLATED +en A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures HP:0007359 IAO:0000115 nl A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures NOT_TRANSLATED +en A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus HP:0000286 IAO:0000115 nl A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus NOT_TRANSLATED +en A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus HP:0000537 IAO:0000115 nl A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus NOT_TRANSLATED +en A fontanelle that is small for age HP:0005486 IAO:0000115 nl A fontanelle that is small for age NOT_TRANSLATED +en A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies HP:0010219 IAO:0000115 nl A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies NOT_TRANSLATED +en A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies HP:0005656 IAO:0000115 nl A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies NOT_TRANSLATED +en A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length HP:0001769 IAO:0000115 nl A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length NOT_TRANSLATED +en A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length HP:0001786 IAO:0000115 nl A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length NOT_TRANSLATED +en A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced HP:0001763 IAO:0000115 nl A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced NOT_TRANSLATED +en A forehead with abnormal flatness HP:0004425 IAO:0000115 nl A forehead with abnormal flatness NOT_TRANSLATED +en A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules HP:0034403 IAO:0000115 nl A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules NOT_TRANSLATED +en A form of acute leukemia characterized by excess lympoblasts HP:0006721 IAO:0000115 nl A form of acute leukemia characterized by excess lympoblasts NOT_TRANSLATED +en A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected HP:0011734 IAO:0000115 nl A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected NOT_TRANSLATED +en A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue HP:0030719 IAO:0000115 nl A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue NOT_TRANSLATED +en A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment HP:0033847 IAO:0000115 nl A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment NOT_TRANSLATED +en A form of amyloidosis that affects the conjunctiva HP:0010637 IAO:0000115 nl A form of amyloidosis that affects the conjunctiva NOT_TRANSLATED +en A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856) HP:0001917 IAO:0000115 nl A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856) NOT_TRANSLATED +en A form of amyloidosis that affects the liver HP:0012280 IAO:0000115 nl A form of amyloidosis that affects the liver NOT_TRANSLATED +en A form of anaphylaxis that is triggered by exposure to venom HP:0500096 IAO:0000115 nl A form of anaphylaxis that is triggered by exposure to venom NOT_TRANSLATED +en A form of anaphylaxis that is triggered by intake of drugs or medications HP:0410149 IAO:0000115 nl A form of anaphylaxis that is triggered by intake of drugs or medications NOT_TRANSLATED +en A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these) HP:0100739 IAO:0000115 nl A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these) NOT_TRANSLATED +en A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung HP:0010773 IAO:0000115 nl A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung NOT_TRANSLATED +en A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity HP:0000659 IAO:0000115 nl A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity NOT_TRANSLATED +en A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error HP:0000484 IAO:0000115 nl A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error NOT_TRANSLATED +en A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis HP:0007573 IAO:0000115 nl A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis NOT_TRANSLATED +en A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset HP:0004752 IAO:0000115 nl A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset NOT_TRANSLATED +en A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens HP:0010922 IAO:0000115 nl A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens NOT_TRANSLATED +en A form of chronic pancreatitis that is characterized by calcification HP:0005236 IAO:0000115 nl A form of chronic pancreatitis that is characterized by calcification NOT_TRANSLATED +en A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life HP:0030710 IAO:0000115 nl A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life NOT_TRANSLATED +en A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments HP:0007641 IAO:0000115 nl A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments NOT_TRANSLATED +en A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses HP:0031765 IAO:0000115 nl A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses NOT_TRANSLATED +en A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times) HP:0031759 IAO:0000115 nl A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times) NOT_TRANSLATED +en A form of cytomegalovirus infection characterized by infection and inflammation of the colon HP:0033431 IAO:0000115 nl A form of cytomegalovirus infection characterized by infection and inflammation of the colon NOT_TRANSLATED +en A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly HP:0000308 IAO:0000115 nl A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly NOT_TRANSLATED +en A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP) HP:0009806 IAO:0000115 nl A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP) NOT_TRANSLATED +en A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus HP:0000863 IAO:0000115 nl A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus NOT_TRANSLATED +en A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times HP:0031713 IAO:0000115 nl A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times NOT_TRANSLATED +en A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes HP:0002268 IAO:0000115 nl A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes NOT_TRANSLATED +en A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex HP:0020046 IAO:0000115 nl A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex NOT_TRANSLATED +en A form of esotropia in which the angle of deviation is not affected by accommodative effort HP:0031760 IAO:0000115 nl A form of esotropia in which the angle of deviation is not affected by accommodative effort NOT_TRANSLATED +en A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS HP:0030069 IAO:0000115 nl A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS NOT_TRANSLATED +en A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia HP:0012179 IAO:0000115 nl A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia NOT_TRANSLATED +en A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech HP:0012049 IAO:0000115 nl A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech NOT_TRANSLATED +en A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass HP:0007165 IAO:0000115 nl A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass NOT_TRANSLATED +en A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others HP:0001722 IAO:0000115 nl A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others NOT_TRANSLATED +en A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes HP:0009805 IAO:0000115 nl A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes NOT_TRANSLATED +en A form of hemolytic anemia that can be triggered by cold temperatures HP:0031484 IAO:0000115 nl A form of hemolytic anemia that can be triggered by cold temperatures NOT_TRANSLATED +en A form of hemolytic anemia that can be triggered by exertion HP:0005535 IAO:0000115 nl A form of hemolytic anemia that can be triggered by exertion NOT_TRANSLATED +en A form of hemolytic anemia that is triggered by ingestion of certain drugs HP:0004817 IAO:0000115 nl A form of hemolytic anemia that is triggered by ingestion of certain drugs NOT_TRANSLATED +en A form of hemolytic anemia that occurs in repeated episodes HP:0004802 IAO:0000115 nl A form of hemolytic anemia that occurs in repeated episodes NOT_TRANSLATED +en A form of hemolytic anemia with congenital onset HP:0004804 IAO:0000115 nl A form of hemolytic anemia with congenital onset NOT_TRANSLATED +en A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes HP:0001403 IAO:0000115 nl A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes NOT_TRANSLATED +en A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes HP:0001414 IAO:0000115 nl A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes NOT_TRANSLATED +en A form of heterotopia were the mislocalized gray matter is located deep within the white matter HP:0032391 IAO:0000115 nl A form of heterotopia were the mislocalized gray matter is located deep within the white matter NOT_TRANSLATED +en A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture HP:0002343 IAO:0000115 nl A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture NOT_TRANSLATED +en A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed HP:0010953 IAO:0000115 nl A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed NOT_TRANSLATED +en A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space HP:0001334 IAO:0000115 nl A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space NOT_TRANSLATED +en A form of hyperaldosteronism caused by a defect within the adrenal gland HP:0011736 IAO:0000115 nl A form of hyperaldosteronism caused by a defect within the adrenal gland NOT_TRANSLATED +en A form of hyperaldosteronism caused by abnormally increased renin levels HP:0011741 IAO:0000115 nl A form of hyperaldosteronism caused by abnormally increased renin levels NOT_TRANSLATED +en A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei HP:0025080 IAO:0000115 nl A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei NOT_TRANSLATED +en A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters HP:0031729 IAO:0000115 nl A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters NOT_TRANSLATED +en A form of hypermetropia with not more than +2.00 diopters HP:0031728 IAO:0000115 nl A form of hypermetropia with not more than +2.00 diopters NOT_TRANSLATED +en A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction HP:0100025 IAO:0000115 nl A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction NOT_TRANSLATED +en A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color HP:0011085 IAO:0000115 nl A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color NOT_TRANSLATED +en A form of hypomineralization of enamel characterized by reduced calcification HP:0011084 IAO:0000115 nl A form of hypomineralization of enamel characterized by reduced calcification NOT_TRANSLATED +en A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position HP:0001278 IAO:0000115 nl A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position NOT_TRANSLATED +en A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules HP:0001970 IAO:0000115 nl A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules NOT_TRANSLATED +en A form of lactic acidemia that occurs following exercise or exertion HP:0004901 IAO:0000115 nl A form of lactic acidemia that occurs following exercise or exertion NOT_TRANSLATED +en A form of lactic acidemia that occurs in relation to stress or infection HP:0004897 IAO:0000115 nl A form of lactic acidemia that occurs in relation to stress or infection NOT_TRANSLATED +en A form of lactic acidemia with congenital onset HP:0004902 IAO:0000115 nl A form of lactic acidemia with congenital onset NOT_TRANSLATED +en A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation HP:0031777 IAO:0000115 nl A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation NOT_TRANSLATED +en A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards HP:0031725 IAO:0000115 nl A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards NOT_TRANSLATED +en A form of leukemia characterized by overproduction of an early myeloid cell HP:0004808 IAO:0000115 nl A form of leukemia characterized by overproduction of an early myeloid cell NOT_TRANSLATED +en A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers HP:0007260 IAO:0000115 nl A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers NOT_TRANSLATED +en A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm HP:0006818 IAO:0000115 nl A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm NOT_TRANSLATED +en A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye HP:0100704 IAO:0000115 nl A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye NOT_TRANSLATED +en A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent HP:0005539 IAO:0000115 nl A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent NOT_TRANSLATED +en A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle HP:0030284 IAO:0000115 nl A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle NOT_TRANSLATED +en A form of macular degeneration characterized by the presence of multiple cysts in the macula HP:0008028 IAO:0000115 nl A form of macular degeneration characterized by the presence of multiple cysts in the macula NOT_TRANSLATED +en A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma HP:0100697 IAO:0000115 nl A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma NOT_TRANSLATED +en A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open HP:0025584 IAO:0000115 nl A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open NOT_TRANSLATED +en A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia) HP:0031776 IAO:0000115 nl A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia) NOT_TRANSLATED +en A form of metabolic acidosis with increased serum chloride levels HP:0004918 IAO:0000115 nl A form of metabolic acidosis with increased serum chloride levels NOT_TRANSLATED +en A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors HP:0007939 IAO:0000115 nl A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors NOT_TRANSLATED +en A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye HP:0031730 IAO:0000115 nl A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye NOT_TRANSLATED +en A form of nephrotic syndrome that does not respond to any immunosuppresive treatment HP:0012589 IAO:0000115 nl A form of nephrotic syndrome that does not respond to any immunosuppresive treatment NOT_TRANSLATED +en A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication HP:0012588 IAO:0000115 nl A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication NOT_TRANSLATED +en A form of nystagmus in which the eyeball makes rotary motions around the axis HP:0001583 IAO:0000115 nl A form of nystagmus in which the eyeball makes rotary motions around the axis NOT_TRANSLATED +en A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin HP:0410136 IAO:0000115 nl A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin NOT_TRANSLATED +en A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns HP:0005540 IAO:0000115 nl A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns NOT_TRANSLATED +en A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe HP:0100259 IAO:0000115 nl A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe NOT_TRANSLATED +en A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe HP:0100258 IAO:0000115 nl A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe NOT_TRANSLATED +en A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone HP:0011739 IAO:0000115 nl A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone NOT_TRANSLATED +en A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids HP:0011740 IAO:0000115 nl A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids NOT_TRANSLATED +en A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm HP:0033423 IAO:0000115 nl A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm NOT_TRANSLATED +en A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm) HP:0033424 IAO:0000115 nl A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm) NOT_TRANSLATED +en A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech HP:0000399 IAO:0000115 nl A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech NOT_TRANSLATED +en A form of sensorineural hearing impairment that affects primarily the higher frequencies HP:0001757 IAO:0000115 nl A form of sensorineural hearing impairment that affects primarily the higher frequencies NOT_TRANSLATED +en A form of sensorineural hearing impairment that affects primarily the lower frequencies HP:0008573 IAO:0000115 nl A form of sensorineural hearing impairment that affects primarily the lower frequencies NOT_TRANSLATED +en A form of sensorineural hearing impairment with infantile onset HP:0008610 IAO:0000115 nl A form of sensorineural hearing impairment with infantile onset NOT_TRANSLATED +en A form of sensorineural hearing impairment with onset after the acquisition of speech HP:0008596 IAO:0000115 nl A form of sensorineural hearing impairment with onset after the acquisition of speech NOT_TRANSLATED +en A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn HP:0004839 IAO:0000115 nl A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn NOT_TRANSLATED +en A form of stapes ankylosis with congenital onset HP:0007943 IAO:0000115 nl A form of stapes ankylosis with congenital onset NOT_TRANSLATED +en A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters HP:0025312 IAO:0000115 nl A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters NOT_TRANSLATED +en A form of strabismus with one or both eyes deviated outward HP:0000577 IAO:0000115 nl A form of strabismus with one or both eyes deviated outward NOT_TRANSLATED +en A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia HP:0025313 IAO:0000115 nl A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia NOT_TRANSLATED +en A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more HP:0000565 IAO:0000115 nl A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more NOT_TRANSLATED +en A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum HP:0032409 IAO:0000115 nl A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum NOT_TRANSLATED +en A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released HP:0012522 IAO:0000115 nl A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released NOT_TRANSLATED +en A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture HP:0002544 IAO:0000115 nl A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture NOT_TRANSLATED +en A form of triphalangeal thumb that can be placed opposite the fingers of the same hand HP:0005866 IAO:0000115 nl A form of triphalangeal thumb that can be placed opposite the fingers of the same hand NOT_TRANSLATED +en A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand HP:0005725 IAO:0000115 nl A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand NOT_TRANSLATED +en A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass HP:0030080 IAO:0000115 nl A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass NOT_TRANSLATED +en A form of uveitis that is not associated with the formation of granulomas HP:0007813 IAO:0000115 nl A form of uveitis that is not associated with the formation of granulomas NOT_TRANSLATED +en A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction HP:0006684 IAO:0000115 nl A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction NOT_TRANSLATED +en A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels HP:0030673 IAO:0000115 nl A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels NOT_TRANSLATED +en A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion HP:0031734 IAO:0000115 nl A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion NOT_TRANSLATED +en A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct HP:0031881 IAO:0000115 nl A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct NOT_TRANSLATED +en A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance HP:0031732 IAO:0000115 nl A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance NOT_TRANSLATED +en A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease) HP:0031733 IAO:0000115 nl A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease) NOT_TRANSLATED +en A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient HP:0033349 IAO:0000115 nl A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient NOT_TRANSLATED +en A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009405 IAO:0000115 nl A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging HP:0041086 IAO:0000115 nl A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED +en A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head HP:0034500 IAO:0000115 nl A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head NOT_TRANSLATED +en A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging HP:0041087 IAO:0000115 nl A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED +en A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging HP:0041084 IAO:0000115 nl A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED +en A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging HP:0041085 IAO:0000115 nl A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging NOT_TRANSLATED +en A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot) HP:0041153 IAO:0000115 nl A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot) NOT_TRANSLATED +en A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint HP:0041217 IAO:0000115 nl A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint NOT_TRANSLATED +en A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis HP:0033262 IAO:0000115 nl A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis NOT_TRANSLATED +en A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma HP:0041088 IAO:0000115 nl A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma NOT_TRANSLATED +en A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma HP:0041089 IAO:0000115 nl A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma NOT_TRANSLATED +en A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma HP:0041091 IAO:0000115 nl A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma NOT_TRANSLATED +en A full-thickness defect of the nasal septum HP:0033434 IAO:0000115 nl A full-thickness defect of the nasal septum NOT_TRANSLATED +en A function abnormality of the endocrine pancreas HP:0012093 IAO:0000115 nl A function abnormality of the endocrine pancreas NOT_TRANSLATED +en A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem HP:0031910 IAO:0000115 nl A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem NOT_TRANSLATED +en A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves HP:0410262 IAO:0000115 nl A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves NOT_TRANSLATED +en A functional abnormality of a skeletal muscle HP:0011804 IAO:0000115 nl A functional abnormality of a skeletal muscle NOT_TRANSLATED +en A functional abnormality of a white blood cell HP:0033796 IAO:0000115 nl A functional abnormality of a white blood cell NOT_TRANSLATED +en A functional abnormality of neutrophils HP:0011990 IAO:0000115 nl A functional abnormality of neutrophils NOT_TRANSLATED +en A functional abnormality of the adrenal glands HP:0011733 IAO:0000115 nl A functional abnormality of the adrenal glands NOT_TRANSLATED +en A functional abnormality of the autonomic nervous system HP:0012332 IAO:0000115 nl A functional abnormality of the autonomic nervous system NOT_TRANSLATED +en A functional abnormality of the biliary tree HP:0012439 IAO:0000115 nl A functional abnormality of the biliary tree NOT_TRANSLATED +en A functional abnormality of the immune system HP:0010978 IAO:0000115 nl A functional abnormality of the immune system NOT_TRANSLATED +en A functional abnormality of the parathyroid gland HP:0011767 IAO:0000115 nl A functional abnormality of the parathyroid gland NOT_TRANSLATED +en A functional abnormality of the pineal gland HP:0012688 IAO:0000115 nl A functional abnormality of the pineal gland NOT_TRANSLATED +en A functional abnormality of the pupil HP:0007686 IAO:0000115 nl A functional abnormality of the pupil NOT_TRANSLATED +en A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder HP:0025634 IAO:0000115 nl A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder NOT_TRANSLATED +en A functional anomaly of T cells HP:0011840 IAO:0000115 nl A functional anomaly of T cells NOT_TRANSLATED +en A functional anomaly of a vertical or horizontal rectus muscle HP:0031755 IAO:0000115 nl A functional anomaly of a vertical or horizontal rectus muscle NOT_TRANSLATED +en A functional anomaly of mitochondria HP:0003287 IAO:0000115 nl A functional anomaly of mitochondria NOT_TRANSLATED +en A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart HP:0030875 IAO:0000115 nl A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart NOT_TRANSLATED +en A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes HP:0012092 IAO:0000115 nl A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes NOT_TRANSLATED +en A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva HP:0032040 IAO:0000115 nl A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva NOT_TRANSLATED +en A functional anomaly of the digestive system HP:0025032 IAO:0000115 nl A functional anomaly of the digestive system NOT_TRANSLATED +en A functional anomaly of the eye HP:0012373 IAO:0000115 nl A functional anomaly of the eye NOT_TRANSLATED +en A functional anomaly of the gallbladder HP:0012438 IAO:0000115 nl A functional anomaly of the gallbladder NOT_TRANSLATED +en A functional anomaly of the hepatobiliary system HP:0025155 IAO:0000115 nl A functional anomaly of the hepatobiliary system NOT_TRANSLATED +en A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve HP:0025596 IAO:0000115 nl A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve NOT_TRANSLATED +en A functional anomaly of the inferior or superior oblique muscle HP:0031739 IAO:0000115 nl A functional anomaly of the inferior or superior oblique muscle NOT_TRANSLATED +en A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye HP:0025600 IAO:0000115 nl A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye NOT_TRANSLATED +en A functional anomaly of the large intestine HP:0012700 IAO:0000115 nl A functional anomaly of the large intestine NOT_TRANSLATED +en A functional anomaly of the lateral rectus muscle HP:0031749 IAO:0000115 nl A functional anomaly of the lateral rectus muscle NOT_TRANSLATED +en A functional anomaly of the medial rectus muscle or lateral rectus muscle HP:0031740 IAO:0000115 nl A functional anomaly of the medial rectus muscle or lateral rectus muscle NOT_TRANSLATED +en A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball HP:0025606 IAO:0000115 nl A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball NOT_TRANSLATED +en A functional anomaly of the mouth (which is also known as the oral cavity) HP:0031815 IAO:0000115 nl A functional anomaly of the mouth (which is also known as the oral cavity) NOT_TRANSLATED +en A functional anomaly of the muscles of the eye HP:0025590 IAO:0000115 nl A functional anomaly of the muscles of the eye NOT_TRANSLATED +en A functional anomaly of the natural killer cell HP:0012177 IAO:0000115 nl A functional anomaly of the natural killer cell NOT_TRANSLATED +en A functional anomaly of the nervous system HP:0012638 IAO:0000115 nl A functional anomaly of the nervous system NOT_TRANSLATED +en A functional anomaly of the pharynx HP:0033152 IAO:0000115 nl A functional anomaly of the pharynx NOT_TRANSLATED +en A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve HP:0025591 IAO:0000115 nl A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve NOT_TRANSLATED +en A functional anomaly of the superior or inferior rectus muscle HP:0031748 IAO:0000115 nl A functional anomaly of the superior or inferior rectus muscle NOT_TRANSLATED +en A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe HP:0025603 IAO:0000115 nl A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe NOT_TRANSLATED +en A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues HP:0025018 IAO:0000115 nl A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues NOT_TRANSLATED +en A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs HP:0002493 IAO:0000115 nl A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs NOT_TRANSLATED +en A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain HP:0012657 IAO:0000115 nl A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain NOT_TRANSLATED +en A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus HP:0002091 IAO:0000115 nl A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus NOT_TRANSLATED +en A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender HP:0003546 IAO:0000115 nl A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender NOT_TRANSLATED +en A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded HP:0004389 IAO:0000115 nl A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded NOT_TRANSLATED +en A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split HP:0012203 IAO:0000115 nl A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split NOT_TRANSLATED +en A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery HP:0031774 IAO:0000115 nl A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery NOT_TRANSLATED +en A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection HP:0011132 IAO:0000115 nl A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection NOT_TRANSLATED +en A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase HP:0025682 IAO:0000115 nl A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase NOT_TRANSLATED +en A gangioleneuroma originating from sympathetic ganglion cells in the abdomen HP:0031455 IAO:0000115 nl A gangioleneuroma originating from sympathetic ganglion cells in the abdomen NOT_TRANSLATED +en A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth HP:0010289 IAO:0000115 nl A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth NOT_TRANSLATED +en A gap in the lip or lips HP:0410030 IAO:0000115 nl A gap in the lip or lips NOT_TRANSLATED +en A gap in the lower lip HP:0010281 IAO:0000115 nl A gap in the lower lip NOT_TRANSLATED +en A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development HP:0000204 IAO:0000115 nl A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development NOT_TRANSLATED +en A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick HP:0033655 IAO:0000115 nl A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick NOT_TRANSLATED +en A general term describing features characterized by abnormal development of bones and connective tissues HP:0002652 IAO:0000115 nl A general term describing features characterized by abnormal development of bones and connective tissues NOT_TRANSLATED +en A general term for inflammation of the muscles without respect to the underlying cause HP:0100614 IAO:0000115 nl A general term for inflammation of the muscles without respect to the underlying cause NOT_TRANSLATED +en A general term referring to a defect in immunity resulting from impaired antibody production HP:0005363 IAO:0000115 nl A general term referring to a defect in immunity resulting from impaired antibody production NOT_TRANSLATED +en A general term that describes a congenital defect in the iliac wing resulting from abnormal development HP:0008794 IAO:0000115 nl A general term that describes a congenital defect in the iliac wing resulting from abnormal development NOT_TRANSLATED +en A generalized decrease in bone mineral density HP:0006462 IAO:0000115 nl A generalized decrease in bone mineral density NOT_TRANSLATED +en A generalized disorder of peripheral nerves HP:0001271 IAO:0000115 nl A generalized disorder of peripheral nerves NOT_TRANSLATED +en A generalized form of developmental hypoplasia of the dental enamel HP:0006282 IAO:0000115 nl A generalized form of developmental hypoplasia of the dental enamel NOT_TRANSLATED +en A generalized form of lymphadenopathy HP:0008940 IAO:0000115 nl A generalized form of lymphadenopathy NOT_TRANSLATED +en A generalized form of microdontia HP:0006311 IAO:0000115 nl A generalized form of microdontia NOT_TRANSLATED +en A generalized form of periodontitis HP:0011058 IAO:0000115 nl A generalized form of periodontitis NOT_TRANSLATED +en A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity) HP:0033491 IAO:0000115 nl A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity) NOT_TRANSLATED +en A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement HP:0032677 IAO:0000115 nl A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement NOT_TRANSLATED +en A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus HP:0002123 IAO:0000115 nl A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED +en A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component HP:0011170 IAO:0000115 nl A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component NOT_TRANSLATED +en A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus HP:0032795 IAO:0000115 nl A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus NOT_TRANSLATED +en A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features HP:0002121 IAO:0000115 nl A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features NOT_TRANSLATED +en A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities HP:0010818 IAO:0000115 nl A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities NOT_TRANSLATED +en A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex HP:0002197 IAO:0000115 nl A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex NOT_TRANSLATED +en A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4 HP:0000062 IAO:0000115 nl A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4 NOT_TRANSLATED +en A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422] HP:0031502 IAO:0000115 nl A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422] NOT_TRANSLATED +en A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte HP:0012778 IAO:0000115 nl A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte NOT_TRANSLATED +en A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland HP:0012683 IAO:0000115 nl A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland NOT_TRANSLATED +en A glioma affecting the brainstem HP:0010796 IAO:0000115 nl A glioma affecting the brainstem NOT_TRANSLATED +en A glioma affecting the cerebellum HP:0010795 IAO:0000115 nl A glioma affecting the cerebellum NOT_TRANSLATED +en A glioma originating in the optic nerve or optic chiasm HP:0009734 IAO:0000115 nl A glioma originating in the optic nerve or optic chiasm NOT_TRANSLATED +en A goiter that is not associated with functional thyroid abnormalities HP:0009798 IAO:0000115 nl A goiter that is not associated with functional thyroid abnormalities NOT_TRANSLATED +en A gonad that contains both ovarian follicles and testicular tubular elements HP:0012861 IAO:0000115 nl A gonad that contains both ovarian follicles and testicular tubular elements NOT_TRANSLATED +en A granuloma located in the lung that is not associated with necrotic changes HP:0033551 IAO:0000115 nl A granuloma located in the lung that is not associated with necrotic changes NOT_TRANSLATED +en A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese HP:0033550 IAO:0000115 nl A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese NOT_TRANSLATED +en A granuloma which is not associated with necrotic changes HP:0033805 IAO:0000115 nl A granuloma which is not associated with necrotic changes NOT_TRANSLATED +en A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity HP:0002955 IAO:0000115 nl A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity NOT_TRANSLATED +en A greater than normal concentration of 2-oxoglutaric acid in the urine HP:0012402 IAO:0000115 nl A greater than normal concentration of 2-oxoglutaric acid in the urine NOT_TRANSLATED +en A greater than normal concentration of citrate(3-) in the urine HP:0012406 IAO:0000115 nl A greater than normal concentration of citrate(3-) in the urine NOT_TRANSLATED +en A green staining of teeth HP:0011075 IAO:0000115 nl A green staining of teeth NOT_TRANSLATED +en A grey discoloration of the dental enamel HP:0000683 IAO:0000115 nl A grey discoloration of the dental enamel NOT_TRANSLATED +en A groove of the skin immediately in front of the ear HP:0004450 IAO:0000115 nl A groove of the skin immediately in front of the ear NOT_TRANSLATED +en A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg HP:0032538 IAO:0000115 nl A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg NOT_TRANSLATED +en A group of abnormalities characterized by hyperglycemia and glucose intolerance HP:0000819 IAO:0000115 nl A group of abnormalities characterized by hyperglycemia and glucose intolerance NOT_TRANSLATED +en A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications HP:0005387 IAO:0000115 nl A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications NOT_TRANSLATED +en A growth pattern that displays an abnormal difference between the left and the right side HP:0100555 IAO:0000115 nl A growth pattern that displays an abnormal difference between the left and the right side NOT_TRANSLATED +en A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk HP:0025635 IAO:0000115 nl A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk NOT_TRANSLATED +en A habitual positioning of the body with the head and upper back bent forward HP:0025403 IAO:0000115 nl A habitual positioning of the body with the head and upper back bent forward NOT_TRANSLATED +en A hair-containing cyst or sinus usually in the coccygeal region HP:0010771 IAO:0000115 nl A hair-containing cyst or sinus usually in the coccygeal region NOT_TRANSLATED +en A hallux (big toe) with three phalanges in a single, proximo-distal axis HP:0032612 IAO:0000115 nl A hallux (big toe) with three phalanges in a single, proximo-distal axis NOT_TRANSLATED +en A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub HP:0031925 IAO:0000115 nl A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub NOT_TRANSLATED +en A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina HP:0009594 IAO:0000115 nl A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina NOT_TRANSLATED +en A hamartoma (disordered proliferation of mature tissues) of the conjunctiva HP:0100780 IAO:0000115 nl A hamartoma (disordered proliferation of mature tissues) of the conjunctiva NOT_TRANSLATED +en A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye HP:0010568 IAO:0000115 nl A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye NOT_TRANSLATED +en A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region HP:0030670 IAO:0000115 nl A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region NOT_TRANSLATED +en A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin HP:0031111 IAO:0000115 nl A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin NOT_TRANSLATED +en A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage HP:0500091 IAO:0000115 nl A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage NOT_TRANSLATED +en A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen HP:4000106 IAO:0000115 nl A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen NOT_TRANSLATED +en A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation HP:0025471 IAO:0000115 nl A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation NOT_TRANSLATED +en A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits HP:0004060 IAO:0000115 nl A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits NOT_TRANSLATED +en A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes HP:0010689 IAO:0000115 nl A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes NOT_TRANSLATED +en A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules HP:0025180 IAO:0000115 nl A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules NOT_TRANSLATED +en A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years HP:0001084 IAO:0000115 nl A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years NOT_TRANSLATED +en A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction HP:0002599 IAO:0000115 nl A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction NOT_TRANSLATED +en A headache disorder that occurs exclusively at night, waking the affected individual from sleep HP:0012459 IAO:0000115 nl A headache disorder that occurs exclusively at night, waking the affected individual from sleep NOT_TRANSLATED +en A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2 HP:0031664 IAO:0000115 nl A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2 NOT_TRANSLATED +en A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1 HP:0031668 IAO:0000115 nl A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1 NOT_TRANSLATED +en A heart murmur that occurs during the entire systolic phase from S1 to S2 HP:0031667 IAO:0000115 nl A heart murmur that occurs during the entire systolic phase from S1 to S2 NOT_TRANSLATED +en A height above that which is expected according to age and gender norms HP:0000098 IAO:0000115 nl A height above that which is expected according to age and gender norms NOT_TRANSLATED +en A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter HP:0010797 IAO:0000115 nl A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter NOT_TRANSLATED +en A hemangioblastoma of the cerebellum HP:0006880 IAO:0000115 nl A hemangioblastoma of the cerebellum NOT_TRANSLATED +en A hemangioblastoma of the spinal cord HP:0009713 IAO:0000115 nl A hemangioblastoma of the spinal cord NOT_TRANSLATED +en A hemangioma arising from within visceral structures, the internal organs of the body HP:0410266 IAO:0000115 nl A hemangioma arising from within visceral structures, the internal organs of the body NOT_TRANSLATED +en A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma) HP:0001028 IAO:0000115 nl A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma) NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway HP:0410264 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel HP:0410267 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords HP:0410265 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus HP:0410270 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions HP:0410271 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region HP:0410287 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine HP:0410274 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx HP:0410273 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen HP:0410268 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip HP:0410269 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip NOT_TRANSLATED +en A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva HP:0410272 IAO:0000115 nl A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva NOT_TRANSLATED +en A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5 HP:0009790 IAO:0000115 nl A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5 NOT_TRANSLATED +en A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal HP:0100541 IAO:0000115 nl A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal NOT_TRANSLATED +en A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones HP:0030729 IAO:0000115 nl A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones NOT_TRANSLATED +en A herniation of meninges through a congenital bone defect in the skull in the occipital region HP:0002436 IAO:0000115 nl A herniation of meninges through a congenital bone defect in the skull in the occipital region NOT_TRANSLATED +en A herniation of meninges through a congenital bone defect in the skull in the parietal region HP:0030730 IAO:0000115 nl A herniation of meninges through a congenital bone defect in the skull in the parietal region NOT_TRANSLATED +en A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life HP:0010301 IAO:0000115 nl A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life NOT_TRANSLATED +en A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur HP:0410281 IAO:0000115 nl A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur NOT_TRANSLATED +en A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis HP:0032333 IAO:0000115 nl A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis NOT_TRANSLATED +en A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis HP:0032339 IAO:0000115 nl A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis NOT_TRANSLATED +en A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis HP:0003459 IAO:0000115 nl A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis NOT_TRANSLATED +en A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s) HP:0000127 IAO:0000115 nl A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s) NOT_TRANSLATED +en A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds HP:0034421 IAO:0000115 nl A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds NOT_TRANSLATED +en A high-pitched whistling sound associated with labored breathing HP:0030828 IAO:0000115 nl A high-pitched whistling sound associated with labored breathing NOT_TRANSLATED +en A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues HP:0030781 IAO:0000115 nl A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues NOT_TRANSLATED +en A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system HP:0030066 IAO:0000115 nl A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system NOT_TRANSLATED +en A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules HP:0031238 IAO:0000115 nl A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules NOT_TRANSLATED +en A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis HP:0034299 IAO:0000115 nl A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis NOT_TRANSLATED +en A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli HP:0031357 IAO:0000115 nl A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli NOT_TRANSLATED +en A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint HP:4000151 IAO:0000115 nl A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint NOT_TRANSLATED +en A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation HP:0020121 IAO:0000115 nl A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation NOT_TRANSLATED +en A history of eating raw egg whites HP:4000126 IAO:0000115 nl A history of eating raw egg whites NOT_TRANSLATED +en A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb HP:4000124 IAO:0000115 nl A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb NOT_TRANSLATED +en A history of ingestion of honey in recent weeks HP:4000125 IAO:0000115 nl A history of ingestion of honey in recent weeks NOT_TRANSLATED +en A history of repeated acute infections of the upper or lower respiratory tract HP:0011948 IAO:0000115 nl A history of repeated acute infections of the upper or lower respiratory tract NOT_TRANSLATED +en A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers HP:0025351 IAO:0000115 nl A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers NOT_TRANSLATED +en A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching HP:0025472 IAO:0000115 nl A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching NOT_TRANSLATED +en A hole (perforation) in the wall of the colon HP:0031369 IAO:0000115 nl A hole (perforation) in the wall of the colon NOT_TRANSLATED +en A hole (perforation) in the wall of the intestine HP:0031368 IAO:0000115 nl A hole (perforation) in the wall of the intestine NOT_TRANSLATED +en A hole (perforation) in the wall of the rectum HP:0031371 IAO:0000115 nl A hole (perforation) in the wall of the rectum NOT_TRANSLATED +en A hole (perforation) in the wall of the small intestine HP:0031370 IAO:0000115 nl A hole (perforation) in the wall of the small intestine NOT_TRANSLATED +en A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum HP:0001629 IAO:0000115 nl A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum NOT_TRANSLATED +en A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material HP:0025245 IAO:0000115 nl A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material NOT_TRANSLATED +en A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12 HP:0000888 IAO:0000115 nl A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12 NOT_TRANSLATED +en A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear HP:0100731 IAO:0000115 nl A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear NOT_TRANSLATED +en A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac HP:0033242 IAO:0000115 nl A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac NOT_TRANSLATED +en A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage HP:0031275 IAO:0000115 nl A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage NOT_TRANSLATED +en A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size HP:0001034 IAO:0000115 nl A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size NOT_TRANSLATED +en A hypopigmented spot in the shape of a leaf from the mountain ash tree HP:0030679 IAO:0000115 nl A hypopigmented spot in the shape of a leaf from the mountain ash tree NOT_TRANSLATED +en A increase in the volume (size) of the amygdyla HP:0033669 IAO:0000115 nl A increase in the volume (size) of the amygdyla NOT_TRANSLATED +en A increased anteroposterior thickness of the cornea HP:0011487 IAO:0000115 nl A increased anteroposterior thickness of the cornea NOT_TRANSLATED +en A increased concentration of alpha-aminoadipic acid in the urine HP:0410309 IAO:0000115 nl A increased concentration of alpha-aminoadipic acid in the urine NOT_TRANSLATED +en A increased concentration of arginine in the urine HP:0003268 IAO:0000115 nl A increased concentration of arginine in the urine NOT_TRANSLATED +en A increased concentration of aspartic acid in the urine HP:0032401 IAO:0000115 nl A increased concentration of aspartic acid in the urine NOT_TRANSLATED +en A increased concentration of serine in the urine HP:0032349 IAO:0000115 nl A increased concentration of serine in the urine NOT_TRANSLATED +en A increased concentration of serotonin in the blood HP:0003144 IAO:0000115 nl A increased concentration of serotonin in the blood NOT_TRANSLATED +en A increased concentration of sulfocysteine in the urine HP:0032350 IAO:0000115 nl A increased concentration of sulfocysteine in the urine NOT_TRANSLATED +en A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage HP:0010886 IAO:0000115 nl A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage NOT_TRANSLATED +en A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament HP:0033656 IAO:0000115 nl A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament NOT_TRANSLATED +en A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right HP:0033569 IAO:0000115 nl A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right NOT_TRANSLATED +en A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used HP:0033567 IAO:0000115 nl A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used NOT_TRANSLATED +en A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees HP:0033568 IAO:0000115 nl A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees NOT_TRANSLATED +en A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection HP:0033570 IAO:0000115 nl A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection NOT_TRANSLATED +en A kind of anemia characterized by inadequate production of erythrocytes HP:0010972 IAO:0000115 nl A kind of anemia characterized by inadequate production of erythrocytes NOT_TRANSLATED +en A kind of anemia in which the volume of the red blood cells is normal HP:0001897 IAO:0000115 nl A kind of anemia in which the volume of the red blood cells is normal NOT_TRANSLATED +en A kind of anemia in which the volume of the red blood cells is reduced HP:0001935 IAO:0000115 nl A kind of anemia in which the volume of the red blood cells is reduced NOT_TRANSLATED +en A kind of ataxia that affects movements of the extremities HP:0002070 IAO:0000115 nl A kind of ataxia that affects movements of the extremities NOT_TRANSLATED +en A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum HP:0001684 IAO:0000115 nl A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum NOT_TRANSLATED +en A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal HP:0010861 IAO:0000115 nl A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal NOT_TRANSLATED +en A kind of breech presentation in which the hips are flexed and the knees are extended HP:0010859 IAO:0000115 nl A kind of breech presentation in which the hips are flexed and the knees are extended NOT_TRANSLATED +en A kind of breech presentation in which the hips are flexed and the knees are flexed HP:0010860 IAO:0000115 nl A kind of breech presentation in which the hips are flexed and the knees are flexed NOT_TRANSLATED +en A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura HP:0010962 IAO:0000115 nl A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura NOT_TRANSLATED +en A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung HP:0010961 IAO:0000115 nl A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung NOT_TRANSLATED +en A kind of cataract that progresses with age HP:0007834 IAO:0000115 nl A kind of cataract that progresses with age NOT_TRANSLATED +en A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally HP:0010693 IAO:0000115 nl A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally NOT_TRANSLATED +en A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants HP:0004392 IAO:0000115 nl A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants NOT_TRANSLATED +en A kind of craniosynostosis affecting the lambdoidal suture HP:0004443 IAO:0000115 nl A kind of craniosynostosis affecting the lambdoidal suture NOT_TRANSLATED +en A kind of craniosynostosis affecting the sagittal suture HP:0004442 IAO:0000115 nl A kind of craniosynostosis affecting the sagittal suture NOT_TRANSLATED +en A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech HP:0012048 IAO:0000115 nl A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech NOT_TRANSLATED +en A kind of hemolytic anemia that is induced by the ingestion of fava beans HP:0004814 IAO:0000115 nl A kind of hemolytic anemia that is induced by the ingestion of fava beans NOT_TRANSLATED +en A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts HP:0002884 IAO:0000115 nl A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts NOT_TRANSLATED +en A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver HP:0001402 IAO:0000115 nl A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver NOT_TRANSLATED +en A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens HP:0010926 IAO:0000115 nl A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens NOT_TRANSLATED +en A kind of polydactyly characterized by the presence of a supernumerary finger or fingers HP:0001161 IAO:0000115 nl A kind of polydactyly characterized by the presence of a supernumerary finger or fingers NOT_TRANSLATED +en A kind of polydactyly characterized by the presence of a supernumerary toe or toes HP:0001829 IAO:0000115 nl A kind of polydactyly characterized by the presence of a supernumerary toe or toes NOT_TRANSLATED +en A kind of short stature in which different regions of the body are shortened to a comparable extent HP:0003508 IAO:0000115 nl A kind of short stature in which different regions of the body are shortened to a comparable extent NOT_TRANSLATED +en A kind of short stature in which different regions of the body are shortened to differing extents HP:0003498 IAO:0000115 nl A kind of short stature in which different regions of the body are shortened to differing extents NOT_TRANSLATED +en A kind of thyroid adenoma characterized by the presence of oxyphil cells HP:0006781 IAO:0000115 nl A kind of thyroid adenoma characterized by the presence of oxyphil cells NOT_TRANSLATED +en A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637) HP:0010952 IAO:0000115 nl A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637) NOT_TRANSLATED +en A kinked appearance of the brainstem, i.e., an exaggerated flexure HP:0012793 IAO:0000115 nl A kinked appearance of the brainstem, i.e., an exaggerated flexure NOT_TRANSLATED +en A lack of bone mineralization of one or more body of cervical vertebra HP:0005885 IAO:0000115 nl A lack of bone mineralization of one or more body of cervical vertebra NOT_TRANSLATED +en A lack of bone mineralization of one or more body of thoracic vertebra HP:0012792 IAO:0000115 nl A lack of bone mineralization of one or more body of thoracic vertebra NOT_TRANSLATED +en A lack of bone mineralization of the vertebral bodies HP:0004605 IAO:0000115 nl A lack of bone mineralization of the vertebral bodies NOT_TRANSLATED +en A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm HP:0020036 IAO:0000115 nl A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm NOT_TRANSLATED +en A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg HP:0020035 IAO:0000115 nl A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg NOT_TRANSLATED +en A lack of differentiation between renal cortex and medulla on diagnostic imaging HP:0005564 IAO:0000115 nl A lack of differentiation between renal cortex and medulla on diagnostic imaging NOT_TRANSLATED +en A lack of facial expression often with staring eyes and a slightly open mouth HP:0000298 IAO:0000115 nl A lack of facial expression often with staring eyes and a slightly open mouth NOT_TRANSLATED +en A lack of humidification of the nasal mucosa HP:0033521 IAO:0000115 nl A lack of humidification of the nasal mucosa NOT_TRANSLATED +en A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum HP:0011465 IAO:0000115 nl A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum NOT_TRANSLATED +en A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine HP:0011464 IAO:0000115 nl A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine NOT_TRANSLATED +en A lack of mobility of ejaculated sperm HP:0012208 IAO:0000115 nl A lack of mobility of ejaculated sperm NOT_TRANSLATED +en A lack of ossification of the vertebral bodies HP:0004606 IAO:0000115 nl A lack of ossification of the vertebral bodies NOT_TRANSLATED +en A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears HP:0012526 IAO:0000115 nl A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears NOT_TRANSLATED +en A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment HP:0000734 IAO:0000115 nl A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment NOT_TRANSLATED +en A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements HP:0031108 IAO:0000115 nl A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements NOT_TRANSLATED +en A lack of strength of the proximal muscles HP:0003701 IAO:0000115 nl A lack of strength of the proximal muscles NOT_TRANSLATED +en A lack of strength of the proximal muscles of the arms HP:0008997 IAO:0000115 nl A lack of strength of the proximal muscles of the arms NOT_TRANSLATED +en A lack of strength of the proximal muscles of the legs HP:0008994 IAO:0000115 nl A lack of strength of the proximal muscles of the legs NOT_TRANSLATED +en A lack or loss of appetite for food (as a medical condition) HP:0002039 IAO:0000115 nl A lack or loss of appetite for food (as a medical condition) NOT_TRANSLATED +en A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel HP:0012775 IAO:0000115 nl A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel NOT_TRANSLATED +en A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance HP:0010740 IAO:0000115 nl A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance NOT_TRANSLATED +en A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral HP:0032389 IAO:0000115 nl A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral NOT_TRANSLATED +en A large maternal clot that separates the chorionic plate from the villous chorion HP:0030714 IAO:0000115 nl A large maternal clot that separates the chorionic plate from the villous chorion NOT_TRANSLATED +en A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth HP:0033190 IAO:0000115 nl A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth NOT_TRANSLATED +en A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink HP:0001062 IAO:0000115 nl A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink NOT_TRANSLATED +en A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent HP:0012666 IAO:0000115 nl A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent NOT_TRANSLATED +en A larger than normal amount or percentage of hematopoietic cells relative to marrow fat HP:0031020 IAO:0000115 nl A larger than normal amount or percentage of hematopoietic cells relative to marrow fat NOT_TRANSLATED +en A larger than usual distance between the left and right nipple HP:0006610 IAO:0000115 nl A larger than usual distance between the left and right nipple NOT_TRANSLATED +en A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured HP:0033018 IAO:0000115 nl A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured NOT_TRANSLATED +en A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured HP:0033023 IAO:0000115 nl A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured NOT_TRANSLATED +en A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured HP:0033025 IAO:0000115 nl A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured NOT_TRANSLATED +en A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured HP:0041069 IAO:0000115 nl A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured NOT_TRANSLATED +en A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured HP:0041065 IAO:0000115 nl A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured NOT_TRANSLATED +en A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured HP:0041074 IAO:0000115 nl A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured NOT_TRANSLATED +en A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured HP:0041059 IAO:0000115 nl A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured NOT_TRANSLATED +en A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured HP:0004432 IAO:0000115 nl A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured NOT_TRANSLATED +en A lasting decrease of immunoglobulin G1 (IgG1) in the blood HP:0041068 IAO:0000115 nl A lasting decrease of immunoglobulin G1 (IgG1) in the blood NOT_TRANSLATED +en A lasting decrease of immunoglobulin G2 (IgG2) in the blood HP:0041063 IAO:0000115 nl A lasting decrease of immunoglobulin G2 (IgG2) in the blood NOT_TRANSLATED +en A lasting decrease of immunoglobulin G3 (IgG3) in the blood HP:0041072 IAO:0000115 nl A lasting decrease of immunoglobulin G3 (IgG3) in the blood NOT_TRANSLATED +en A lasting decrease of immunoglobulin G4 (IgG4) in the blood HP:0041058 IAO:0000115 nl A lasting decrease of immunoglobulin G4 (IgG4) in the blood NOT_TRANSLATED +en A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood HP:0041070 IAO:0000115 nl A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood NOT_TRANSLATED +en A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood HP:0041066 IAO:0000115 nl A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood NOT_TRANSLATED +en A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood HP:0041075 IAO:0000115 nl A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood NOT_TRANSLATED +en A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood HP:0041060 IAO:0000115 nl A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood NOT_TRANSLATED +en A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood HP:0033016 IAO:0000115 nl A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood NOT_TRANSLATED +en A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood HP:0033022 IAO:0000115 nl A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood NOT_TRANSLATED +en A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood HP:0032134 IAO:0000115 nl A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood NOT_TRANSLATED +en A lateral bending or abnormal curvature of the femur HP:0005090 IAO:0000115 nl A lateral bending or abnormal curvature of the femur NOT_TRANSLATED +en A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges HP:0031282 IAO:0000115 nl A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges NOT_TRANSLATED +en A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent) HP:0010522 IAO:0000115 nl A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent) NOT_TRANSLATED +en A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus HP:0031678 IAO:0000115 nl A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus NOT_TRANSLATED +en A lesion located beneath a fingernail or toenail HP:0009723 IAO:0000115 nl A lesion located beneath a fingernail or toenail NOT_TRANSLATED +en A lesion of the skin that is located in a specific region rather than being generalized HP:0011355 IAO:0000115 nl A lesion of the skin that is located in a specific region rather than being generalized NOT_TRANSLATED +en A lesion of the skin with a ring-like distribution HP:0025528 IAO:0000115 nl A lesion of the skin with a ring-like distribution NOT_TRANSLATED +en A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity HP:0031420 IAO:0000115 nl A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity NOT_TRANSLATED +en A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms HP:0006611 IAO:0000115 nl A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms NOT_TRANSLATED +en A lesser degree of hair pigmentation than would otherwise be expected HP:0002286 IAO:0000115 nl A lesser degree of hair pigmentation than would otherwise be expected NOT_TRANSLATED +en A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow HP:0012324 IAO:0000115 nl A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow NOT_TRANSLATED +en A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia HP:0007183 IAO:0000115 nl A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia NOT_TRANSLATED +en A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem HP:0012748 IAO:0000115 nl A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem NOT_TRANSLATED +en A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus HP:0012692 IAO:0000115 nl A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus NOT_TRANSLATED +en A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin HP:0005750 IAO:0000115 nl A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin NOT_TRANSLATED +en A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin HP:0100360 IAO:0000115 nl A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin NOT_TRANSLATED +en A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin HP:0034391 IAO:0000115 nl A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin NOT_TRANSLATED +en A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part HP:0034392 IAO:0000115 nl A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part NOT_TRANSLATED +en A limitation of the ability to direct one's gaze above the horizontal meridian HP:0025331 IAO:0000115 nl A limitation of the ability to direct one's gaze above the horizontal meridian NOT_TRANSLATED +en A limitation of the ability to direct one's gaze below the horizontal meridian HP:0025330 IAO:0000115 nl A limitation of the ability to direct one's gaze below the horizontal meridian NOT_TRANSLATED +en A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation) HP:0006394 IAO:0000115 nl A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation) NOT_TRANSLATED +en A limitation of the range of movement of the shoulder joint HP:0006467 IAO:0000115 nl A limitation of the range of movement of the shoulder joint NOT_TRANSLATED +en A limited ability of the knee joint to perform extension and flexion HP:0005085 IAO:0000115 nl A limited ability of the knee joint to perform extension and flexion NOT_TRANSLATED +en A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva HP:0012549 IAO:0000115 nl A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva NOT_TRANSLATED +en A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue HP:0030815 IAO:0000115 nl A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue NOT_TRANSLATED +en A liposarcoma that contains myxomatous tissue HP:0012268 IAO:0000115 nl A liposarcoma that contains myxomatous tissue NOT_TRANSLATED +en A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery HP:0031056 IAO:0000115 nl A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery NOT_TRANSLATED +en A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure HP:0030855 IAO:0000115 nl A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure NOT_TRANSLATED +en A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year HP:0001362 IAO:0000115 nl A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year NOT_TRANSLATED +en A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure HP:0030856 IAO:0000115 nl A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure NOT_TRANSLATED +en A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area HP:0025239 IAO:0000115 nl A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area NOT_TRANSLATED +en A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells HP:0032416 IAO:0000115 nl A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells NOT_TRANSLATED +en A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture HP:0034159 IAO:0000115 nl A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture NOT_TRANSLATED +en A localized form of developmental hypoplasia of the dental enamel HP:0011074 IAO:0000115 nl A localized form of developmental hypoplasia of the dental enamel NOT_TRANSLATED +en A localized form of periodontitis HP:0011059 IAO:0000115 nl A localized form of periodontitis NOT_TRANSLATED +en A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy HP:0031971 IAO:0000115 nl A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy NOT_TRANSLATED +en A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object) HP:0010548 IAO:0000115 nl A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object) NOT_TRANSLATED +en A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole HP:0006698 IAO:0000115 nl A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole NOT_TRANSLATED +en A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations HP:0005184 IAO:0000115 nl A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations NOT_TRANSLATED +en A loss of adipose tissue HP:0008887 IAO:0000115 nl A loss of adipose tissue NOT_TRANSLATED +en A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure HP:0500173 IAO:0000115 nl A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure NOT_TRANSLATED +en A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior HP:0000726 IAO:0000115 nl A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior NOT_TRANSLATED +en A loss of myelin from nerve fibers in the central nervous system HP:0007305 IAO:0000115 nl A loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED +en A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system HP:0007107 IAO:0000115 nl A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system NOT_TRANSLATED +en A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system HP:0011096 IAO:0000115 nl A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED +en A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy) HP:0003380 IAO:0000115 nl A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy) NOT_TRANSLATED +en A loss of the ability to move the vocal fold on both sides HP:0012820 IAO:0000115 nl A loss of the ability to move the vocal fold on both sides NOT_TRANSLATED +en A loss of the ability to move the vocal fold on one side HP:0008757 IAO:0000115 nl A loss of the ability to move the vocal fold on one side NOT_TRANSLATED +en A loss of the ability to move the vocal folds HP:0001605 IAO:0000115 nl A loss of the ability to move the vocal folds NOT_TRANSLATED +en A loss or impairment of the sensation of the relative position of parts of the body and joint position HP:0010831 IAO:0000115 nl A loss or impairment of the sensation of the relative position of parts of the body and joint position NOT_TRANSLATED +en A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints HP:0006858 IAO:0000115 nl A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints NOT_TRANSLATED +en A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin) HP:0030393 IAO:0000115 nl A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin) NOT_TRANSLATED +en A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance HP:0030414 IAO:0000115 nl A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance NOT_TRANSLATED +en A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis HP:0031587 IAO:0000115 nl A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis NOT_TRANSLATED +en A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test HP:0033082 IAO:0000115 nl A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED +en A lower than normal concentration of 2-oxoglutaric acid in the urine HP:0012403 IAO:0000115 nl A lower than normal concentration of 2-oxoglutaric acid in the urine NOT_TRANSLATED +en A lower than normal concentration of citrate(3-) in the urine HP:0012405 IAO:0000115 nl A lower than normal concentration of citrate(3-) in the urine NOT_TRANSLATED +en A lower than normal left ventricular endsystolic diameter HP:0034386 IAO:0000115 nl A lower than normal left ventricular endsystolic diameter NOT_TRANSLATED +en A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction HP:0020126 IAO:0000115 nl A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction NOT_TRANSLATED +en A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction HP:0020127 IAO:0000115 nl A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction NOT_TRANSLATED +en A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography HP:0034412 IAO:0000115 nl A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography NOT_TRANSLATED +en A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup HP:0034413 IAO:0000115 nl A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup NOT_TRANSLATED +en A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria HP:0032262 IAO:0000115 nl A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria NOT_TRANSLATED +en A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis HP:0033730 IAO:0000115 nl A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis NOT_TRANSLATED +en A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors HP:0030785 IAO:0000115 nl A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors NOT_TRANSLATED +en A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine HP:0011956 IAO:0000115 nl A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine NOT_TRANSLATED +en A macular hole is a small break in the macula, located in the center of the retina HP:0011508 IAO:0000115 nl A macular hole is a small break in the macula, located in the center of the retina NOT_TRANSLATED +en A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation HP:0025475 IAO:0000115 nl A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation NOT_TRANSLATED +en A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning HP:0031466 IAO:0000115 nl A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning NOT_TRANSLATED +en A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter HP:0032059 IAO:0000115 nl A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter NOT_TRANSLATED +en A malformation of the auricle of the ear HP:0008572 IAO:0000115 nl A malformation of the auricle of the ear NOT_TRANSLATED +en A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract HP:0034301 IAO:0000115 nl A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract NOT_TRANSLATED +en A malformation of the laryngeal cartilage HP:0008752 IAO:0000115 nl A malformation of the laryngeal cartilage NOT_TRANSLATED +en A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium HP:0030769 IAO:0000115 nl A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium NOT_TRANSLATED +en A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis HP:0003762 IAO:0000115 nl A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis NOT_TRANSLATED +en A malfunctioning of the spleen in which it prematurely destroys red blood cells HP:0001971 IAO:0000115 nl A malfunctioning of the spleen in which it prematurely destroys red blood cells NOT_TRANSLATED +en A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism HP:0006780 IAO:0000115 nl A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism NOT_TRANSLATED +en A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor HP:0002669 IAO:0000115 nl A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor NOT_TRANSLATED +en A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features HP:0030447 IAO:0000115 nl A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features NOT_TRANSLATED +en A malignant epithelial tumor with a glandular organization that originates in the duodenum HP:0006771 IAO:0000115 nl A malignant epithelial tumor with a glandular organization that originates in the duodenum NOT_TRANSLATED +en A malignant epithelial tumor with a glandular organization that originates in the ileum HP:0030412 IAO:0000115 nl A malignant epithelial tumor with a glandular organization that originates in the ileum NOT_TRANSLATED +en A malignant epithelial tumor with a glandular organization that originates in the intestines HP:0040273 IAO:0000115 nl A malignant epithelial tumor with a glandular organization that originates in the intestines NOT_TRANSLATED +en A malignant epithelial tumor with a glandular organization that originates in the jejunum HP:0030411 IAO:0000115 nl A malignant epithelial tumor with a glandular organization that originates in the jejunum NOT_TRANSLATED +en A malignant epithelial tumor with a glandular organization that originates in the large intestine HP:0040275 IAO:0000115 nl A malignant epithelial tumor with a glandular organization that originates in the large intestine NOT_TRANSLATED +en A malignant epithelial tumor with a glandular organization that originates in the small intestine HP:0040274 IAO:0000115 nl A malignant epithelial tumor with a glandular organization that originates in the small intestine NOT_TRANSLATED +en A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias HP:0005526 IAO:0000115 nl A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias NOT_TRANSLATED +en A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid) HP:0007716 IAO:0000115 nl A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid) NOT_TRANSLATED +en A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma HP:0100002 IAO:0000115 nl A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma NOT_TRANSLATED +en A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone HP:0006744 IAO:0000115 nl A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone NOT_TRANSLATED +en A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible HP:0031025 IAO:0000115 nl A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible NOT_TRANSLATED +en A malignant neoplasm originating from the surface ovarian epithelium HP:0025318 IAO:0000115 nl A malignant neoplasm originating from the surface ovarian epithelium NOT_TRANSLATED +en A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma HP:0030445 IAO:0000115 nl A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma NOT_TRANSLATED +en A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate HP:0030068 IAO:0000115 nl A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate NOT_TRANSLATED +en A malignant plasma cell tumor growing within soft tissue or within the skeleton HP:0006775 IAO:0000115 nl A malignant plasma cell tumor growing within soft tissue or within the skeleton NOT_TRANSLATED +en A malignant soft tissue neoplasm that arises from the heart HP:0031350 IAO:0000115 nl A malignant soft tissue neoplasm that arises from the heart NOT_TRANSLATED +en A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus) HP:0030731 IAO:0000115 nl A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus) NOT_TRANSLATED +en A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones HP:0012254 IAO:0000115 nl A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones NOT_TRANSLATED +en A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice HP:0030409 IAO:0000115 nl A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice NOT_TRANSLATED +en A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors HP:0100768 IAO:0000115 nl A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors NOT_TRANSLATED +en A malposition of the pupil owing to a developmental defect of the iris HP:0009918 IAO:0000115 nl A malposition of the pupil owing to a developmental defect of the iris NOT_TRANSLATED +en A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally HP:0020045 IAO:0000115 nl A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally NOT_TRANSLATED +en A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally HP:0020049 IAO:0000115 nl A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally NOT_TRANSLATED +en A marked tapering of the lower face to the chin HP:0000307 IAO:0000115 nl A marked tapering of the lower face to the chin NOT_TRANSLATED +en A markedly blue coloration of the iris HP:0000635 IAO:0000115 nl A markedly blue coloration of the iris NOT_TRANSLATED +en A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) HP:0033821 IAO:0000115 nl A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) NOT_TRANSLATED +en A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) HP:0033823 IAO:0000115 nl A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) NOT_TRANSLATED +en A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) HP:0033824 IAO:0000115 nl A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics) NOT_TRANSLATED +en A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diametern(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features HP:0033822 IAO:0000115 nl A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diametern(without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features NOT_TRANSLATED +en A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac HP:0500035 IAO:0000115 nl A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac NOT_TRANSLATED +en A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure HP:0020182 IAO:0000115 nl A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure NOT_TRANSLATED +en A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure HP:0020183 IAO:0000115 nl A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure NOT_TRANSLATED +en A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure HP:0020184 IAO:0000115 nl A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure NOT_TRANSLATED +en A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective) HP:0001773 IAO:0000115 nl A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective) NOT_TRANSLATED +en A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst HP:0025674 IAO:0000115 nl A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst NOT_TRANSLATED +en A medical history of a fetus or child born to a mother with an autoimmune disease HP:0011437 IAO:0000115 nl A medical history of a fetus or child born to a mother with an autoimmune disease NOT_TRANSLATED +en A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy HP:0100610 IAO:0000115 nl A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy NOT_TRANSLATED +en A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy HP:0011438 IAO:0000115 nl A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy NOT_TRANSLATED +en A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent HP:0012665 IAO:0000115 nl A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent NOT_TRANSLATED +en A melanoma that originates in the anal margin HP:0030444 IAO:0000115 nl A melanoma that originates in the anal margin NOT_TRANSLATED +en A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords HP:0005950 IAO:0000115 nl A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords NOT_TRANSLATED +en A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% HP:0100753 IAO:0000115 nl A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7% NOT_TRANSLATED +en A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance HP:0020135 IAO:0000115 nl A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance NOT_TRANSLATED +en A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit HP:0500092 IAO:0000115 nl A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit NOT_TRANSLATED +en A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake HP:0005979 IAO:0000115 nl A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake NOT_TRANSLATED +en A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord HP:0001539 IAO:0000115 nl A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord NOT_TRANSLATED +en A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation HP:0010564 IAO:0000115 nl A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation NOT_TRANSLATED +en A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations HP:0032786 IAO:0000115 nl A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations NOT_TRANSLATED +en A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin HP:0033622 IAO:0000115 nl A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin NOT_TRANSLATED +en A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex HP:0003502 IAO:0000115 nl A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex NOT_TRANSLATED +en A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms HP:0001530 IAO:0000115 nl A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms NOT_TRANSLATED +en A mild delay in the achievement of motor or mental milestones in the domains of development of a child HP:0011342 IAO:0000115 nl A mild delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED +en A mild delay in the acquisition of the ability to understand the speech of others HP:0011350 IAO:0000115 nl A mild delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED +en A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts HP:0011346 IAO:0000115 nl A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED +en A mild form of conductive hearing impairment HP:0008598 IAO:0000115 nl A mild form of conductive hearing impairment NOT_TRANSLATED +en A mild form of hypospadias in which the urethra opens just under the corona glandis HP:0008743 IAO:0000115 nl A mild form of hypospadias in which the urethra opens just under the corona glandis NOT_TRANSLATED +en A mild form of myopia with up to -3.00 diopters HP:0025573 IAO:0000115 nl A mild form of myopia with up to -3.00 diopters NOT_TRANSLATED +en A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss HP:0032108 IAO:0000115 nl A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss NOT_TRANSLATED +en A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error HP:0000486 IAO:0000115 nl A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error NOT_TRANSLATED +en A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation HP:0001428 IAO:0000115 nl A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation NOT_TRANSLATED +en A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel HP:0034345 IAO:0000115 nl A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel NOT_TRANSLATED +en A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases HP:0001426 IAO:0000115 nl A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases NOT_TRANSLATED +en A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation HP:0001423 IAO:0000115 nl A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation NOT_TRANSLATED +en A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele HP:0001419 IAO:0000115 nl A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele NOT_TRANSLATED +en A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected HP:0032113 IAO:0000115 nl A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected NOT_TRANSLATED +en A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele HP:0000006 IAO:0000115 nl A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele NOT_TRANSLATED +en A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele) HP:0000007 IAO:0000115 nl A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele) NOT_TRANSLATED +en A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome HP:0001417 IAO:0000115 nl A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome NOT_TRANSLATED +en A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome HP:0001450 IAO:0000115 nl A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome NOT_TRANSLATED +en A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy) HP:0001427 IAO:0000115 nl A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy) NOT_TRANSLATED +en A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex HP:0008848 IAO:0000115 nl A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex NOT_TRANSLATED +en A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms HP:0008855 IAO:0000115 nl A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms NOT_TRANSLATED +en A moderate delay in the achievement of motor or mental milestones in the domains of development of a child HP:0011343 IAO:0000115 nl A moderate delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED +en A moderate delay in the acquisition of the ability to understand the speech of others HP:0011351 IAO:0000115 nl A moderate delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED +en A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts HP:0011345 IAO:0000115 nl A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED +en A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters HP:0031624 IAO:0000115 nl A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters NOT_TRANSLATED +en A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss HP:0032109 IAO:0000115 nl A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss NOT_TRANSLATED +en A morphological abnormality of a digit, i.e., of a finger or toe HP:0011297 IAO:0000115 nl A morphological abnormality of a digit, i.e., of a finger or toe NOT_TRANSLATED +en A morphological abnormality of distal phalanges such that they have the appearance of chess pawns HP:0006170 IAO:0000115 nl A morphological abnormality of distal phalanges such that they have the appearance of chess pawns NOT_TRANSLATED +en A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant) HP:0003013 IAO:0000115 nl A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant) NOT_TRANSLATED +en A morphological abnormality of the metencephalon HP:0007027 IAO:0000115 nl A morphological abnormality of the metencephalon NOT_TRANSLATED +en A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure HP:0002714 IAO:0000115 nl A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure NOT_TRANSLATED +en A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination HP:0012795 IAO:0000115 nl A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination NOT_TRANSLATED +en A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape) HP:0031233 IAO:0000115 nl A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape) NOT_TRANSLATED +en A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra HP:0008438 IAO:0000115 nl A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra NOT_TRANSLATED +en A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals HP:0011376 IAO:0000115 nl A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals NOT_TRANSLATED +en A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery HP:0025042 IAO:0000115 nl A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery NOT_TRANSLATED +en A morphological anomaly of one or more proximal phalanges of one or more toes HP:0010184 IAO:0000115 nl A morphological anomaly of one or more proximal phalanges of one or more toes NOT_TRANSLATED +en A morphological anomaly of the lateral ventricle HP:0030047 IAO:0000115 nl A morphological anomaly of the lateral ventricle NOT_TRANSLATED +en A morphological anomaly of the nasal cartilage HP:0030027 IAO:0000115 nl A morphological anomaly of the nasal cartilage NOT_TRANSLATED +en A morphological anomaly of the rib cage HP:0001547 IAO:0000115 nl A morphological anomaly of the rib cage NOT_TRANSLATED +en A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction HP:0012396 IAO:0000115 nl A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction NOT_TRANSLATED +en A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes HP:0001257 IAO:0000115 nl A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes NOT_TRANSLATED +en A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement HP:0020219 IAO:0000115 nl A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement NOT_TRANSLATED +en A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements HP:0100660 IAO:0000115 nl A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements NOT_TRANSLATED +en A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological HP:0100639 IAO:0000115 nl A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological NOT_TRANSLATED +en A murmur that occurs in both systole and diastole HP:0031670 IAO:0000115 nl A murmur that occurs in both systole and diastole NOT_TRANSLATED +en A murmur that occurs in the latter phase of systole HP:0031666 IAO:0000115 nl A murmur that occurs in the latter phase of systole NOT_TRANSLATED +en A murmur that occurs in the middle of the diastolic phase HP:0031669 IAO:0000115 nl A murmur that occurs in the middle of the diastolic phase NOT_TRANSLATED +en A muscular ventricular septal defect located at the apex of the heart HP:0011624 IAO:0000115 nl A muscular ventricular septal defect located at the apex of the heart NOT_TRANSLATED +en A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma HP:0033651 IAO:0000115 nl A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma NOT_TRANSLATED +en A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement HP:0012325 IAO:0000115 nl A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement NOT_TRANSLATED +en A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate HP:0005506 IAO:0000115 nl A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate NOT_TRANSLATED +en A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality HP:0001638 IAO:0000115 nl A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality NOT_TRANSLATED +en A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus HP:0032794 IAO:0000115 nl A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED +en A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber HP:0011672 IAO:0000115 nl A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber NOT_TRANSLATED +en A myxoma originating in the skin HP:0030428 IAO:0000115 nl A myxoma originating in the skin NOT_TRANSLATED +en A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease HP:0041093 IAO:0000115 nl A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease NOT_TRANSLATED +en A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger HP:0008398 IAO:0000115 nl A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger NOT_TRANSLATED +en A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature HP:0001809 IAO:0000115 nl A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature NOT_TRANSLATED +en A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature HP:0011312 IAO:0000115 nl A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature NOT_TRANSLATED +en A nail that is diminished in length and width, i.e., underdeveloped nail HP:0001792 IAO:0000115 nl A nail that is diminished in length and width, i.e., underdeveloped nail NOT_TRANSLATED +en A narrow segment of significantly reduced circumference of a digit HP:0010491 IAO:0000115 nl A narrow segment of significantly reduced circumference of a digit NOT_TRANSLATED +en A narrowing of a segment of colon whereby bowel continuity is maintained HP:0012851 IAO:0000115 nl A narrowing of a segment of colon whereby bowel continuity is maintained NOT_TRANSLATED +en A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull) HP:0004422 IAO:0000115 nl A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull) NOT_TRANSLATED +en A narrowing of the orifice of the tricuspid valve of the heart HP:0010446 IAO:0000115 nl A narrowing of the orifice of the tricuspid valve of the heart NOT_TRANSLATED +en A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis) HP:0001642 IAO:0000115 nl A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis) NOT_TRANSLATED +en A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium HP:0003375 IAO:0000115 nl A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium NOT_TRANSLATED +en A narrowing of the vagina owing to scar formation HP:0025416 IAO:0000115 nl A narrowing of the vagina owing to scar formation NOT_TRANSLATED +en A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve HP:0030752 IAO:0000115 nl A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve NOT_TRANSLATED +en A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors HP:0025722 IAO:0000115 nl A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors NOT_TRANSLATED +en A neonatal decreased concentration of proteins in the blood HP:0008360 IAO:0000115 nl A neonatal decreased concentration of proteins in the blood NOT_TRANSLATED +en A neoplasm affecting the spinal cord HP:0010302 IAO:0000115 nl A neoplasm affecting the spinal cord NOT_TRANSLATED +en A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells HP:0030061 IAO:0000115 nl A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells NOT_TRANSLATED +en A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium HP:0030063 IAO:0000115 nl A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium NOT_TRANSLATED +en A neoplasm containing histiocytes HP:0012315 IAO:0000115 nl A neoplasm containing histiocytes NOT_TRANSLATED +en A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system) HP:0030060 IAO:0000115 nl A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system) NOT_TRANSLATED +en A neoplasm of the central nervous system HP:0100006 IAO:0000115 nl A neoplasm of the central nervous system NOT_TRANSLATED +en A neoplasm of the pineal gland HP:0010799 IAO:0000115 nl A neoplasm of the pineal gland NOT_TRANSLATED +en A neoplasm of the trachea HP:0100551 IAO:0000115 nl A neoplasm of the trachea NOT_TRANSLATED +en A neoplasm originating in the pharynx HP:0100638 IAO:0000115 nl A neoplasm originating in the pharynx NOT_TRANSLATED +en A neoplasm that affects the female reproductive system HP:0033020 IAO:0000115 nl A neoplasm that affects the female reproductive system NOT_TRANSLATED +en A neoplasm that affects the hard palate, soft palate, or uvula HP:0031366 IAO:0000115 nl A neoplasm that affects the hard palate, soft palate, or uvula NOT_TRANSLATED +en A neoplasm that affects the male reproductive system HP:0033019 IAO:0000115 nl A neoplasm that affects the male reproductive system NOT_TRANSLATED +en A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle HP:0031001 IAO:0000115 nl A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle NOT_TRANSLATED +en A net-like pattern of increased pigmentation of the oral cavity HP:0012788 IAO:0000115 nl A net-like pattern of increased pigmentation of the oral cavity NOT_TRANSLATED +en A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine HP:0045005 IAO:0000115 nl A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine NOT_TRANSLATED +en A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull HP:0002084 IAO:0000115 nl A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull NOT_TRANSLATED +en A neural tube defect in which both the brain and spinal cord remain open to varying degrees HP:0030770 IAO:0000115 nl A neural tube defect in which both the brain and spinal cord remain open to varying degrees NOT_TRANSLATED +en A neurenteric cyst located in the spine HP:0030726 IAO:0000115 nl A neurenteric cyst located in the spine NOT_TRANSLATED +en A neurenteric cyst located within the skull HP:0030727 IAO:0000115 nl A neurenteric cyst located within the skull NOT_TRANSLATED +en A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas HP:0030405 IAO:0000115 nl A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas NOT_TRANSLATED +en A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure HP:0009732 IAO:0000115 nl A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure NOT_TRANSLATED +en A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat HP:0002591 IAO:0000115 nl A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat NOT_TRANSLATED +en A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless) HP:0002071 IAO:0000115 nl A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless) NOT_TRANSLATED +en A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected HP:0100661 IAO:0000115 nl A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected NOT_TRANSLATED +en A neutrophil abnormality HP:0001874 IAO:0000115 nl A neutrophil abnormality NOT_TRANSLATED +en A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present HP:0033167 IAO:0000115 nl A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present NOT_TRANSLATED +en A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin HP:0003764 IAO:0000115 nl A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin NOT_TRANSLATED +en A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours HP:0025237 IAO:0000115 nl A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours NOT_TRANSLATED +en A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter HP:0025392 IAO:0000115 nl A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter NOT_TRANSLATED +en A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree HP:0025399 IAO:0000115 nl A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree NOT_TRANSLATED +en A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution HP:0025398 IAO:0000115 nl A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution NOT_TRANSLATED +en A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern HP:0025400 IAO:0000115 nl A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern NOT_TRANSLATED +en A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases HP:0032972 IAO:0000115 nl A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases NOT_TRANSLATED +en A nodule of the skin that exhibits an increased amount of pigmentation HP:0025529 IAO:0000115 nl A nodule of the skin that exhibits an increased amount of pigmentation NOT_TRANSLATED +en A non-malignant neoplasm of the genitourinary system HP:0006778 IAO:0000115 nl A non-malignant neoplasm of the genitourinary system NOT_TRANSLATED +en A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp HP:0025198 IAO:0000115 nl A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp NOT_TRANSLATED +en A non-midline cleft of the upper lip on one side only HP:0100333 IAO:0000115 nl A non-midline cleft of the upper lip on one side only NOT_TRANSLATED +en A non-midline cleft of the upper lip on the left and right sides HP:0100336 IAO:0000115 nl A non-midline cleft of the upper lip on the left and right sides NOT_TRANSLATED +en A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue HP:0031351 IAO:0000115 nl A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue NOT_TRANSLATED +en A noncongenital process of hair loss, which may progress to partial or complete baldness HP:0001596 IAO:0000115 nl A noncongenital process of hair loss, which may progress to partial or complete baldness NOT_TRANSLATED +en A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis HP:0011834 IAO:0000115 nl A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis NOT_TRANSLATED +en A nonparallel arrangement of cardiac myocytes HP:0031318 IAO:0000115 nl A nonparallel arrangement of cardiac myocytes NOT_TRANSLATED +en A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset HP:0007642 IAO:0000115 nl A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset NOT_TRANSLATED +en A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells HP:0000546 IAO:0000115 nl A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells NOT_TRANSLATED +en A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea HP:0000608 IAO:0000115 nl A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea NOT_TRANSLATED +en A nonspecific term referring to disease or damage of the kidneys HP:0000112 IAO:0000115 nl A nonspecific term referring to disease or damage of the kidneys NOT_TRANSLATED +en A normal APGAR score can be coded as 'not Low 10-minute APGAR score' HP:0033467 IAO:0000115 nl A normal APGAR score can be coded as 'not Low 10-minute APGAR score' NOT_TRANSLATED +en A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3 HP:0033075 IAO:0000115 nl A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3 NOT_TRANSLATED +en A notch or cleft of the lower part of the retina HP:0031614 IAO:0000115 nl A notch or cleft of the lower part of the retina NOT_TRANSLATED +en A notch or cleft of the retina HP:0000480 IAO:0000115 nl A notch or cleft of the retina NOT_TRANSLATED +en A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length HP:0009902 IAO:0000115 nl A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length NOT_TRANSLATED +en A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown HP:0100018 IAO:0000115 nl A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown NOT_TRANSLATED +en A nuclear cataract with a triangular form HP:0010699 IAO:0000115 nl A nuclear cataract with a triangular form NOT_TRANSLATED +en A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger HP:0000995 IAO:0000115 nl A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger NOT_TRANSLATED +en A pain characteristic is defined as a subjective category or type of pain HP:0025280 IAO:0000115 nl A pain characteristic is defined as a subjective category or type of pain NOT_TRANSLATED +en A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours HP:0200023 IAO:0000115 nl A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours NOT_TRANSLATED +en A pale yellow discoloration of the entire optic disc HP:0012512 IAO:0000115 nl A pale yellow discoloration of the entire optic disc NOT_TRANSLATED +en A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression HP:0000543 IAO:0000115 nl A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression NOT_TRANSLATED +en A pale yellow discoloration of the temporal (lateral) portion of the optic disc HP:0012511 IAO:0000115 nl A pale yellow discoloration of the temporal (lateral) portion of the optic disc NOT_TRANSLATED +en A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid) HP:0033045 IAO:0000115 nl A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid) NOT_TRANSLATED +en A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth HP:0031445 IAO:0000115 nl A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth NOT_TRANSLATED +en A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms HP:0031517 IAO:0000115 nl A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms NOT_TRANSLATED +en A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin HP:0025473 IAO:0000115 nl A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin NOT_TRANSLATED +en A papule with the same color as the surrounding skin HP:0025512 IAO:0000115 nl A papule with the same color as the surrounding skin NOT_TRANSLATED +en A papule with white color HP:0031289 IAO:0000115 nl A papule with white color NOT_TRANSLATED +en A papule with yellow color HP:0025507 IAO:0000115 nl A papule with yellow color NOT_TRANSLATED +en A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery HP:0100635 IAO:0000115 nl A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery NOT_TRANSLATED +en A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host HP:0031700 IAO:0000115 nl A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host NOT_TRANSLATED +en A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) HP:0025235 IAO:0000115 nl A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep) NOT_TRANSLATED +en A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos HP:0033650 IAO:0000115 nl A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleuran(which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos NOT_TRANSLATED +en A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information HP:0010534 IAO:0000115 nl A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information NOT_TRANSLATED +en A part of the past medical history consisting of information about the typical food intake of an individual HP:4000123 IAO:0000115 nl A part of the past medical history consisting of information about the typical food intake of an individual NOT_TRANSLATED +en A partial dislocation affecting some or all of the metacarpophalangeal joints HP:0004294 IAO:0000115 nl A partial dislocation affecting some or all of the metacarpophalangeal joints NOT_TRANSLATED +en A partial dislocation of a joint HP:0032153 IAO:0000115 nl A partial dislocation of a joint NOT_TRANSLATED +en A partial dislocation of one or more intervertebral joints in the cervical vertebral column HP:0003308 IAO:0000115 nl A partial dislocation of one or more intervertebral joints in the cervical vertebral column NOT_TRANSLATED +en A partial dislocation of some or all of the small joints of the hand HP:0004269 IAO:0000115 nl A partial dislocation of some or all of the small joints of the hand NOT_TRANSLATED +en A partial dislocation of the atlantoaxial joints HP:0003320 IAO:0000115 nl A partial dislocation of the atlantoaxial joints NOT_TRANSLATED +en A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket HP:0030043 IAO:0000115 nl A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket NOT_TRANSLATED +en A partial dislocation of the intervertebral joint between the second and third cervical vertebrae HP:0008456 IAO:0000115 nl A partial dislocation of the intervertebral joint between the second and third cervical vertebrae NOT_TRANSLATED +en A partial dislocation of the proximal interphalangeal joint of the little finger HP:0004230 IAO:0000115 nl A partial dislocation of the proximal interphalangeal joint of the little finger NOT_TRANSLATED +en A partial dislocation of the shoulder joint HP:0003835 IAO:0000115 nl A partial dislocation of the shoulder joint NOT_TRANSLATED +en A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder HP:0012571 IAO:0000115 nl A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0010004 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0010005 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0009956 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0009961 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0009974 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0009987 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0009999 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0009944 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones HP:0010003 IAO:0000115 nl A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones NOT_TRANSLATED +en A partial failure of the development of the corpus callosum HP:0001338 IAO:0000115 nl A partial failure of the development of the corpus callosum NOT_TRANSLATED +en A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball HP:0430007 IAO:0000115 nl A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball NOT_TRANSLATED +en A partial or complete breakage of a shoulder bone HP:0041245 IAO:0000115 nl A partial or complete breakage of a shoulder bone NOT_TRANSLATED +en A partial or complete breakage of the acetabular part of hip bone HP:0041145 IAO:0000115 nl A partial or complete breakage of the acetabular part of hip bone NOT_TRANSLATED +en A partial or complete breakage of the bone of jaw HP:0041234 IAO:0000115 nl A partial or complete breakage of the bone of jaw NOT_TRANSLATED +en A partial or complete breakage of the calcaneus HP:0041061 IAO:0000115 nl A partial or complete breakage of the calcaneus NOT_TRANSLATED +en A partial or complete breakage of the carpal bone HP:0041248 IAO:0000115 nl A partial or complete breakage of the carpal bone NOT_TRANSLATED +en A partial or complete breakage of the cervical vertebra HP:0041167 IAO:0000115 nl A partial or complete breakage of the cervical vertebra NOT_TRANSLATED +en A partial or complete breakage of the clavicle bone HP:0041144 IAO:0000115 nl A partial or complete breakage of the clavicle bone NOT_TRANSLATED +en A partial or complete breakage of the coccyx HP:0041146 IAO:0000115 nl A partial or complete breakage of the coccyx NOT_TRANSLATED +en A partial or complete breakage of the continuity of a bone HP:0020110 IAO:0000115 nl A partial or complete breakage of the continuity of a bone NOT_TRANSLATED +en A partial or complete breakage of the cuboid bone HP:0041150 IAO:0000115 nl A partial or complete breakage of the cuboid bone NOT_TRANSLATED +en A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1 HP:0041216 IAO:0000115 nl A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1 NOT_TRANSLATED +en A partial or complete breakage of the distal epiphysis of radius HP:0041196 IAO:0000115 nl A partial or complete breakage of the distal epiphysis of radius NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx HP:0041218 IAO:0000115 nl A partial or complete breakage of the distal phalanx NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx of manual digit 2 HP:0041176 IAO:0000115 nl A partial or complete breakage of the distal phalanx of manual digit 2 NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx of manual digit 3 HP:0041177 IAO:0000115 nl A partial or complete breakage of the distal phalanx of manual digit 3 NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx of manual digit 4 HP:0041178 IAO:0000115 nl A partial or complete breakage of the distal phalanx of manual digit 4 NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx of manual digit 5 HP:0041179 IAO:0000115 nl A partial or complete breakage of the distal phalanx of manual digit 5 NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx of manus HP:0041174 IAO:0000115 nl A partial or complete breakage of the distal phalanx of manus NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx of pedal digit 1 HP:0041180 IAO:0000115 nl A partial or complete breakage of the distal phalanx of pedal digit 1 NOT_TRANSLATED +en A partial or complete breakage of the distal phalanx of pedal digit 3 HP:0041181 IAO:0000115 nl A partial or complete breakage of the distal phalanx of pedal digit 3 NOT_TRANSLATED +en A partial or complete breakage of the distal tarsal bone HP:0041226 IAO:0000115 nl A partial or complete breakage of the distal tarsal bone NOT_TRANSLATED +en A partial or complete breakage of the distal tarsal bone 2 HP:0041227 IAO:0000115 nl A partial or complete breakage of the distal tarsal bone 2 NOT_TRANSLATED +en A partial or complete breakage of the distal tarsal bone 3 HP:0041228 IAO:0000115 nl A partial or complete breakage of the distal tarsal bone 3 NOT_TRANSLATED +en A partial or complete breakage of the elbow HP:0041219 IAO:0000115 nl A partial or complete breakage of the elbow NOT_TRANSLATED +en A partial or complete breakage of the elbow joint HP:0041154 IAO:0000115 nl A partial or complete breakage of the elbow joint NOT_TRANSLATED +en A partial or complete breakage of the epiphysis HP:0041147 IAO:0000115 nl A partial or complete breakage of the epiphysis NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of femur HP:0041189 IAO:0000115 nl A partial or complete breakage of the epiphysis of femur NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of fifth metacarpal bone HP:0041121 IAO:0000115 nl A partial or complete breakage of the epiphysis of fifth metacarpal bone NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of first metatarsal bone HP:0041193 IAO:0000115 nl A partial or complete breakage of the epiphysis of first metatarsal bone NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of fourth metacarpal bone HP:0041192 IAO:0000115 nl A partial or complete breakage of the epiphysis of fourth metacarpal bone NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of middle phalanx of manus HP:0041209 IAO:0000115 nl A partial or complete breakage of the epiphysis of middle phalanx of manus NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of second metacarpal bone HP:0041190 IAO:0000115 nl A partial or complete breakage of the epiphysis of second metacarpal bone NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of second metatarsal bone HP:0041194 IAO:0000115 nl A partial or complete breakage of the epiphysis of second metatarsal bone NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of third metacarpal bone HP:0041191 IAO:0000115 nl A partial or complete breakage of the epiphysis of third metacarpal bone NOT_TRANSLATED +en A partial or complete breakage of the epiphysis of third metatarsal bone HP:0041195 IAO:0000115 nl A partial or complete breakage of the epiphysis of third metatarsal bone NOT_TRANSLATED +en A partial or complete breakage of the facial bone HP:0041220 IAO:0000115 nl A partial or complete breakage of the facial bone NOT_TRANSLATED +en A partial or complete breakage of the fibula HP:0041222 IAO:0000115 nl A partial or complete breakage of the fibula NOT_TRANSLATED +en A partial or complete breakage of the foot bone, such as the metatarsal or toe HP:0041162 IAO:0000115 nl A partial or complete breakage of the foot bone, such as the metatarsal or toe NOT_TRANSLATED +en A partial or complete breakage of the fused metatarsal bones 2-4 HP:0041215 IAO:0000115 nl A partial or complete breakage of the fused metatarsal bones 2-4 NOT_TRANSLATED +en A partial or complete breakage of the fused sacrum HP:0041172 IAO:0000115 nl A partial or complete breakage of the fused sacrum NOT_TRANSLATED +en A partial or complete breakage of the head of femur HP:0041221 IAO:0000115 nl A partial or complete breakage of the head of femur NOT_TRANSLATED +en A partial or complete breakage of the hindlimb bone HP:0041235 IAO:0000115 nl A partial or complete breakage of the hindlimb bone NOT_TRANSLATED +en A partial or complete breakage of the humerus HP:0041055 IAO:0000115 nl A partial or complete breakage of the humerus NOT_TRANSLATED +en A partial or complete breakage of the ilium HP:0041233 IAO:0000115 nl A partial or complete breakage of the ilium NOT_TRANSLATED +en A partial or complete breakage of the interphalangeal joint HP:0041199 IAO:0000115 nl A partial or complete breakage of the interphalangeal joint NOT_TRANSLATED +en A partial or complete breakage of the knee HP:0041064 IAO:0000115 nl A partial or complete breakage of the knee NOT_TRANSLATED +en A partial or complete breakage of the larynx HP:0041157 IAO:0000115 nl A partial or complete breakage of the larynx NOT_TRANSLATED +en A partial or complete breakage of the lateral malleolus of fibula HP:0041210 IAO:0000115 nl A partial or complete breakage of the lateral malleolus of fibula NOT_TRANSLATED +en A partial or complete breakage of the left clavicle HP:0041116 IAO:0000115 nl A partial or complete breakage of the left clavicle NOT_TRANSLATED +en A partial or complete breakage of the lower limb segment HP:0041117 IAO:0000115 nl A partial or complete breakage of the lower limb segment NOT_TRANSLATED +en A partial or complete breakage of the lumbar vertebra HP:0041168 IAO:0000115 nl A partial or complete breakage of the lumbar vertebra NOT_TRANSLATED +en A partial or complete breakage of the mandible HP:0041155 IAO:0000115 nl A partial or complete breakage of the mandible NOT_TRANSLATED +en A partial or complete breakage of the manual digit HP:0041163 IAO:0000115 nl A partial or complete breakage of the manual digit NOT_TRANSLATED +en A partial or complete breakage of the manual digit 1 phalanx HP:0041239 IAO:0000115 nl A partial or complete breakage of the manual digit 1 phalanx NOT_TRANSLATED +en A partial or complete breakage of the manual digit bone HP:0041224 IAO:0000115 nl A partial or complete breakage of the manual digit bone NOT_TRANSLATED +en A partial or complete breakage of the maxilla HP:0041165 IAO:0000115 nl A partial or complete breakage of the maxilla NOT_TRANSLATED +en A partial or complete breakage of the metacarpal bone of digit 1 HP:0041225 IAO:0000115 nl A partial or complete breakage of the metacarpal bone of digit 1 NOT_TRANSLATED +en A partial or complete breakage of the metacarpophalangeal joint HP:0041173 IAO:0000115 nl A partial or complete breakage of the metacarpophalangeal joint NOT_TRANSLATED +en A partial or complete breakage of the metacarpus skeleton HP:0041119 IAO:0000115 nl A partial or complete breakage of the metacarpus skeleton NOT_TRANSLATED +en A partial or complete breakage of the metaphysis of femur HP:0041114 IAO:0000115 nl A partial or complete breakage of the metaphysis of femur NOT_TRANSLATED +en A partial or complete breakage of the metatarsal bone of digit 1 HP:0041231 IAO:0000115 nl A partial or complete breakage of the metatarsal bone of digit 1 NOT_TRANSLATED +en A partial or complete breakage of the metatarsal bone of digit 4 HP:0041230 IAO:0000115 nl A partial or complete breakage of the metatarsal bone of digit 4 NOT_TRANSLATED +en A partial or complete breakage of the metatarsal bone of digit 5 HP:0041223 IAO:0000115 nl A partial or complete breakage of the metatarsal bone of digit 5 NOT_TRANSLATED +en A partial or complete breakage of the middle phalanx of manual digit 2 HP:0041182 IAO:0000115 nl A partial or complete breakage of the middle phalanx of manual digit 2 NOT_TRANSLATED +en A partial or complete breakage of the middle phalanx of manual digit 3 HP:0041183 IAO:0000115 nl A partial or complete breakage of the middle phalanx of manual digit 3 NOT_TRANSLATED +en A partial or complete breakage of the middle phalanx of manual digit 4 HP:0041184 IAO:0000115 nl A partial or complete breakage of the middle phalanx of manual digit 4 NOT_TRANSLATED +en A partial or complete breakage of the middle phalanx of manual digit 5 HP:0041185 IAO:0000115 nl A partial or complete breakage of the middle phalanx of manual digit 5 NOT_TRANSLATED +en A partial or complete breakage of the middle phalanx of manus HP:0041236 IAO:0000115 nl A partial or complete breakage of the middle phalanx of manus NOT_TRANSLATED +en A partial or complete breakage of the middle phalanx of pedal digit 3 HP:0041186 IAO:0000115 nl A partial or complete breakage of the middle phalanx of pedal digit 3 NOT_TRANSLATED +en A partial or complete breakage of the middle phalanx of pes HP:0041175 IAO:0000115 nl A partial or complete breakage of the middle phalanx of pes NOT_TRANSLATED +en A partial or complete breakage of the navicular bone of pes HP:0041149 IAO:0000115 nl A partial or complete breakage of the navicular bone of pes NOT_TRANSLATED +en A partial or complete breakage of the nose HP:0041249 IAO:0000115 nl A partial or complete breakage of the nose NOT_TRANSLATED +en A partial or complete breakage of the orbit of skull HP:0041156 IAO:0000115 nl A partial or complete breakage of the orbit of skull NOT_TRANSLATED +en A partial or complete breakage of the patella HP:0041237 IAO:0000115 nl A partial or complete breakage of the patella NOT_TRANSLATED +en A partial or complete breakage of the phalanx HP:0041083 IAO:0000115 nl A partial or complete breakage of the phalanx NOT_TRANSLATED +en A partial or complete breakage of the phalanx of manus HP:0041241 IAO:0000115 nl A partial or complete breakage of the phalanx of manus NOT_TRANSLATED +en A partial or complete breakage of the phalanx of pes HP:0041240 IAO:0000115 nl A partial or complete breakage of the phalanx of pes NOT_TRANSLATED +en A partial or complete breakage of the proximal epiphysis of first metacarpal bone HP:0041197 IAO:0000115 nl A partial or complete breakage of the proximal epiphysis of first metacarpal bone NOT_TRANSLATED +en A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3 HP:0041198 IAO:0000115 nl A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3 NOT_TRANSLATED +en A partial or complete breakage of the proximal phalanx of digit 2 HP:0041211 IAO:0000115 nl A partial or complete breakage of the proximal phalanx of digit 2 NOT_TRANSLATED +en A partial or complete breakage of the proximal phalanx of digit 3 HP:0041212 IAO:0000115 nl A partial or complete breakage of the proximal phalanx of digit 3 NOT_TRANSLATED +en A partial or complete breakage of the proximal phalanx of digit 4 HP:0041213 IAO:0000115 nl A partial or complete breakage of the proximal phalanx of digit 4 NOT_TRANSLATED +en A partial or complete breakage of the proximal phalanx of digit 5 HP:0041214 IAO:0000115 nl A partial or complete breakage of the proximal phalanx of digit 5 NOT_TRANSLATED +en A partial or complete breakage of the proximal phalanx of manual digit 1 HP:0041188 IAO:0000115 nl A partial or complete breakage of the proximal phalanx of manual digit 1 NOT_TRANSLATED +en A partial or complete breakage of the proximal phalanx of manus HP:0041243 IAO:0000115 nl A partial or complete breakage of the proximal phalanx of manus NOT_TRANSLATED +en A partial or complete breakage of the proximal phalanx of pedal digit 1 HP:0041187 IAO:0000115 nl A partial or complete breakage of the proximal phalanx of pedal digit 1 NOT_TRANSLATED +en A partial or complete breakage of the rib HP:0041159 IAO:0000115 nl A partial or complete breakage of the rib NOT_TRANSLATED +en A partial or complete breakage of the right clavicle HP:0041115 IAO:0000115 nl A partial or complete breakage of the right clavicle NOT_TRANSLATED +en A partial or complete breakage of the scapula HP:0041244 IAO:0000115 nl A partial or complete breakage of the scapula NOT_TRANSLATED +en A partial or complete breakage of the skull HP:0041082 IAO:0000115 nl A partial or complete breakage of the skull NOT_TRANSLATED +en A partial or complete breakage of the sternal end of clavicle HP:0041200 IAO:0000115 nl A partial or complete breakage of the sternal end of clavicle NOT_TRANSLATED +en A partial or complete breakage of the sternoclavicular joint HP:0041152 IAO:0000115 nl A partial or complete breakage of the sternoclavicular joint NOT_TRANSLATED +en A partial or complete breakage of the sternum HP:0041246 IAO:0000115 nl A partial or complete breakage of the sternum NOT_TRANSLATED +en A partial or complete breakage of the talus HP:0041164 IAO:0000115 nl A partial or complete breakage of the talus NOT_TRANSLATED +en A partial or complete breakage of the tarsal bone HP:0041247 IAO:0000115 nl A partial or complete breakage of the tarsal bone NOT_TRANSLATED +en A partial or complete breakage of the thoracic vertebra HP:0041073 IAO:0000115 nl A partial or complete breakage of the thoracic vertebra NOT_TRANSLATED +en A partial or complete breakage of the tibia HP:0041143 IAO:0000115 nl A partial or complete breakage of the tibia NOT_TRANSLATED +en A partial or complete breakage of the upper limb segment HP:0041118 IAO:0000115 nl A partial or complete breakage of the upper limb segment NOT_TRANSLATED +en A partial or complete breakage of the vertebra HP:0041166 IAO:0000115 nl A partial or complete breakage of the vertebra NOT_TRANSLATED +en A partial or complete duplication of one or more distal phalanx of toe HP:0010193 IAO:0000115 nl A partial or complete duplication of one or more distal phalanx of toe NOT_TRANSLATED +en A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs HP:0020164 IAO:0000115 nl A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs NOT_TRANSLATED +en A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis HP:0100600 IAO:0000115 nl A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis NOT_TRANSLATED +en A partial reduction in level of the complement component Factor D in circulation HP:0008338 IAO:0000115 nl A partial reduction in level of the complement component Factor D in circulation NOT_TRANSLATED +en A partial reduction in level of the complement component Factor H in circulation HP:0008290 IAO:0000115 nl A partial reduction in level of the complement component Factor H in circulation NOT_TRANSLATED +en A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change HP:0007123 IAO:0000115 nl A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change NOT_TRANSLATED +en A past medical history of a recent blood transfusion HP:4000129 IAO:0000115 nl A past medical history of a recent blood transfusion NOT_TRANSLATED +en A past medical history of having been fed exclusively by breast feeding HP:4000122 IAO:0000115 nl A past medical history of having been fed exclusively by breast feeding NOT_TRANSLATED +en A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor HP:0032557 IAO:0000115 nl A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor NOT_TRANSLATED +en A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography HP:0025397 IAO:0000115 nl A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography NOT_TRANSLATED +en A patent ductus arteriosus or ductal ligament completes the ring HP:0011593 IAO:0000115 nl A patent ductus arteriosus or ductal ligament completes the ring NOT_TRANSLATED +en A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone HP:0002756 IAO:0000115 nl A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone NOT_TRANSLATED +en A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow HP:0004381 IAO:0000115 nl A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow NOT_TRANSLATED +en A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen HP:0002043 IAO:0000115 nl A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen NOT_TRANSLATED +en A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows HP:0005325 IAO:0000115 nl A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows NOT_TRANSLATED +en A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes HP:0034339 IAO:0000115 nl A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes NOT_TRANSLATED +en A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa HP:0010835 IAO:0000115 nl A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa NOT_TRANSLATED +en A pattern of simultaneous degeneration and regeneration of axons (see comment) HP:0003378 IAO:0000115 nl A pattern of simultaneous degeneration and regeneration of axons (see comment) NOT_TRANSLATED +en A pebbly orange appearance of the fundus that is said to resemble the skin of an orange HP:0033027 IAO:0000115 nl A pebbly orange appearance of the fundus that is said to resemble the skin of an orange NOT_TRANSLATED +en A perceived unpleasant smell given off by the body HP:0500001 IAO:0000115 nl A perceived unpleasant smell given off by the body NOT_TRANSLATED +en A perception of shortness of breath that occurs independently of exertion HP:0033710 IAO:0000115 nl A perception of shortness of breath that occurs independently of exertion NOT_TRANSLATED +en A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving) HP:4000033 IAO:0000115 nl A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving) NOT_TRANSLATED +en A perception that one's body is moving or swaying despite lack of motion of the body HP:4000032 IAO:0000115 nl A perception that one's body is moving or swaying despite lack of motion of the body NOT_TRANSLATED +en A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical) HP:0033620 IAO:0000115 nl A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical) NOT_TRANSLATED +en A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical) HP:0033619 IAO:0000115 nl A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical) NOT_TRANSLATED +en A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney) HP:0032619 IAO:0000115 nl A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney) NOT_TRANSLATED +en A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG HP:0012266 IAO:0000115 nl A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG NOT_TRANSLATED +en A persecutory delusion of supposed hostility of others HP:0011999 IAO:0000115 nl A persecutory delusion of supposed hostility of others NOT_TRANSLATED +en A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children HP:0034315 IAO:0000115 nl A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children NOT_TRANSLATED +en A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt HP:0011669 IAO:0000115 nl A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt NOT_TRANSLATED +en A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence HP:0011670 IAO:0000115 nl A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence NOT_TRANSLATED +en A persistent midline depression of the skin over the fat pad of the chin HP:0010751 IAO:0000115 nl A persistent midline depression of the skin over the fat pad of the chin NOT_TRANSLATED +en A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions HP:0012076 IAO:0000115 nl A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions NOT_TRANSLATED +en A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention HP:0012077 IAO:0000115 nl A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention NOT_TRANSLATED +en A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head) HP:0032078 IAO:0000115 nl A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head) NOT_TRANSLATED +en A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss HP:0012167 IAO:0000115 nl A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss NOT_TRANSLATED +en A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903 HP:0030814 IAO:0000115 nl A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903 NOT_TRANSLATED +en A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs HP:0003391 IAO:0000115 nl A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs NOT_TRANSLATED +en A phenotypic abnormality HP:0000118 IAO:0000115 nl A phenotypic abnormality NOT_TRANSLATED +en A phenotypic abnormality that is present at birth HP:0003577 IAO:0000115 nl A phenotypic abnormality that is present at birth NOT_TRANSLATED +en A piece of food that has gotten stuck in the esophagus and prevents further swallowing HP:0031984 IAO:0000115 nl A piece of food that has gotten stuck in the esophagus and prevents further swallowing NOT_TRANSLATED +en A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea HP:0031830 IAO:0000115 nl A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea NOT_TRANSLATED +en A pituitary adenoma that is less than 10 mm in diameter HP:0025694 IAO:0000115 nl A pituitary adenoma that is less than 10 mm in diameter NOT_TRANSLATED +en A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin) HP:0000871 IAO:0000115 nl A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin) NOT_TRANSLATED +en A pituitary gland adenoma that is larger than 10mm HP:0025693 IAO:0000115 nl A pituitary gland adenoma that is larger than 10mm NOT_TRANSLATED +en A pituitary prolactin cell adenoma of less than 10 mm diameter HP:0012341 IAO:0000115 nl A pituitary prolactin cell adenoma of less than 10 mm diameter NOT_TRANSLATED +en A pituitary prolactin cell adenoma of more than 10 mm diameter HP:0012342 IAO:0000115 nl A pituitary prolactin cell adenoma of more than 10 mm diameter NOT_TRANSLATED +en A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS HP:0011763 IAO:0000115 nl A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS NOT_TRANSLATED +en A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation HP:0025474 IAO:0000115 nl A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation NOT_TRANSLATED +en A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter HP:0200035 IAO:0000115 nl A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter NOT_TRANSLATED +en A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather HP:0009721 IAO:0000115 nl A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather NOT_TRANSLATED +en A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura HP:0033344 IAO:0000115 nl A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura NOT_TRANSLATED +en A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung HP:0025419 IAO:0000115 nl A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung NOT_TRANSLATED +en A pocket of pus located within a region of a tooth HP:0030757 IAO:0000115 nl A pocket of pus located within a region of a tooth NOT_TRANSLATED +en A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver HP:0033485 IAO:0000115 nl A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver NOT_TRANSLATED +en A polar cataract that affects the anterior pole of the lens HP:0001134 IAO:0000115 nl A polar cataract that affects the anterior pole of the lens NOT_TRANSLATED +en A polar cataract that affects the posterior pole of the lens HP:0001115 IAO:0000115 nl A polar cataract that affects the posterior pole of the lens NOT_TRANSLATED +en A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor HP:0031498 IAO:0000115 nl A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor NOT_TRANSLATED +en A popping, clicking or crackling sound that accompaniees movement of a joint HP:0034431 IAO:0000115 nl A popping, clicking or crackling sound that accompaniees movement of a joint NOT_TRANSLATED +en A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first HP:0001623 IAO:0000115 nl A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first NOT_TRANSLATED +en A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together HP:0002970 IAO:0000115 nl A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together NOT_TRANSLATED +en A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension HP:0003574 IAO:0000115 nl A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension NOT_TRANSLATED +en A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction HP:0032366 IAO:0000115 nl A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction NOT_TRANSLATED +en A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe HP:0000627 IAO:0000115 nl A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe NOT_TRANSLATED +en A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity HP:0025193 IAO:0000115 nl A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity NOT_TRANSLATED +en A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength HP:0020037 IAO:0000115 nl A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength NOT_TRANSLATED +en A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance HP:0011841 IAO:0000115 nl A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance NOT_TRANSLATED +en A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer HP:0032242 IAO:0000115 nl A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer NOT_TRANSLATED +en A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin) HP:0031234 IAO:0000115 nl A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin) NOT_TRANSLATED +en A predominantly right ventricular variant of isolated noncompaction cardiomyopathy HP:0012816 IAO:0000115 nl A predominantly right ventricular variant of isolated noncompaction cardiomyopathy NOT_TRANSLATED +en A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube) HP:0031456 IAO:0000115 nl A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube) NOT_TRANSLATED +en A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy HP:0005268 IAO:0000115 nl A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy NOT_TRANSLATED +en A pregnancy that extends to 42 weeks of gestation or beyond HP:0031169 IAO:0000115 nl A pregnancy that extends to 42 weeks of gestation or beyond NOT_TRANSLATED +en A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone HP:0004012 IAO:0000115 nl A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone NOT_TRANSLATED +en A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited HP:4000143 IAO:0000115 nl A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited NOT_TRANSLATED +en A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery) HP:0025675 IAO:0000115 nl A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery) NOT_TRANSLATED +en A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms HP:0005352 IAO:0000115 nl A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms NOT_TRANSLATED +en A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone HP:0030067 IAO:0000115 nl A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone NOT_TRANSLATED +en A primitive neuroectodermal neoplasm that occurs in the central nervous system HP:0030070 IAO:0000115 nl A primitive neuroectodermal neoplasm that occurs in the central nervous system NOT_TRANSLATED +en A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal HP:0030071 IAO:0000115 nl A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal NOT_TRANSLATED +en A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity HP:0030014 IAO:0000115 nl A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity NOT_TRANSLATED +en A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity HP:0040307 IAO:0000115 nl A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity NOT_TRANSLATED +en A profound (essentially complete) form of hearing impairment HP:0012715 IAO:0000115 nl A profound (essentially complete) form of hearing impairment NOT_TRANSLATED +en A profound delay in the achievement of motor or mental milestones in the domains of development of a child HP:0012736 IAO:0000115 nl A profound delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED +en A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) HP:0007158 IAO:0000115 nl A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) NOT_TRANSLATED +en A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy HP:0005576 IAO:0000115 nl A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy NOT_TRANSLATED +en A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures HP:0008443 IAO:0000115 nl A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures NOT_TRANSLATED +en A progressive form of decreased height of the intervertebral disk HP:0004622 IAO:0000115 nl A progressive form of decreased height of the intervertebral disk NOT_TRANSLATED +en A progressive form of hearing impairment HP:0001730 IAO:0000115 nl A progressive form of hearing impairment NOT_TRANSLATED +en A progressive form of ptosis HP:0007838 IAO:0000115 nl A progressive form of ptosis NOT_TRANSLATED +en A progressive form of scoliosis with congenital onset HP:0008458 IAO:0000115 nl A progressive form of scoliosis with congenital onset NOT_TRANSLATED +en A progressive form of sensorineural hearing impairment HP:0000408 IAO:0000115 nl A progressive form of sensorineural hearing impairment NOT_TRANSLATED +en A progressive loss of the ability to remember the meaning of words, faces and objects HP:0030219 IAO:0000115 nl A progressive loss of the ability to remember the meaning of words, faces and objects NOT_TRANSLATED +en A progressive type of conductive deafness HP:0008607 IAO:0000115 nl A progressive type of conductive deafness NOT_TRANSLATED +en A proneness to anger, i.e., a condition of being easily bothered or annoyed HP:0000737 IAO:0000115 nl A proneness to anger, i.e., a condition of being easily bothered or annoyed NOT_TRANSLATED +en A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia HP:0033648 IAO:0000115 nl A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe HP:0100220 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe HP:0100187 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe HP:0100118 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe HP:0010134 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe HP:0100231 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe HP:0100198 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe HP:0100129 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe NOT_TRANSLATED +en A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe HP:0100164 IAO:0000115 nl A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe NOT_TRANSLATED +en A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb HP:0009693 IAO:0000115 nl A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb NOT_TRANSLATED +en A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb HP:0009682 IAO:0000115 nl A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb NOT_TRANSLATED +en A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb HP:0009671 IAO:0000115 nl A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb NOT_TRANSLATED +en A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone HP:0009193 IAO:0000115 nl A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone NOT_TRANSLATED +en A pterygium (or pterygia) in the intercrural (groin) region HP:0009757 IAO:0000115 nl A pterygium (or pterygia) in the intercrural (groin) region NOT_TRANSLATED +en A pterygium (or pterygia) occurring in the popliteal region (the back of the knee) HP:0009756 IAO:0000115 nl A pterygium (or pterygia) occurring in the popliteal region (the back of the knee) NOT_TRANSLATED +en A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress HP:0030864 IAO:0000115 nl A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress NOT_TRANSLATED +en A purely subjective manifestation of an epileptic seizure pertaining to altered cognition HP:0033347 IAO:0000115 nl A purely subjective manifestation of an epileptic seizure pertaining to altered cognition NOT_TRANSLATED +en A purpuric lesion that is larger than 1 cm in diameter HP:0031364 IAO:0000115 nl A purpuric lesion that is larger than 1 cm in diameter NOT_TRANSLATED +en A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle HP:0020084 IAO:0000115 nl A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle NOT_TRANSLATED +en A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells HP:0032231 IAO:0000115 nl A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells NOT_TRANSLATED +en A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look HP:0031287 IAO:0000115 nl A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look NOT_TRANSLATED +en A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location HP:0030706 IAO:0000115 nl A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location NOT_TRANSLATED +en A rapid heartrate that exceeds the range of the normal resting heartrate for age HP:0001649 IAO:0000115 nl A rapid heartrate that exceeds the range of the normal resting heartrate for age NOT_TRANSLATED +en A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults HP:0002885 IAO:0000115 nl A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults NOT_TRANSLATED +en A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia HP:0031463 IAO:0000115 nl A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia NOT_TRANSLATED +en A rare birth defect in women where the urethra and vagina both open into a common channel HP:0100779 IAO:0000115 nl A rare birth defect in women where the urethra and vagina both open into a common channel NOT_TRANSLATED +en A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant HP:0100528 IAO:0000115 nl A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant NOT_TRANSLATED +en A rare condition that is characterized by a complete loss of taste function of the tongue HP:0041051 IAO:0000115 nl A rare condition that is characterized by a complete loss of taste function of the tongue NOT_TRANSLATED +en A rare congenital cystic lesion of the lungs in the mediastinum HP:0100730 IAO:0000115 nl A rare congenital cystic lesion of the lungs in the mediastinum NOT_TRANSLATED +en A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress HP:0005301 IAO:0000115 nl A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress NOT_TRANSLATED +en A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment HP:0410148 IAO:0000115 nl A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment NOT_TRANSLATED +en A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells HP:0100636 IAO:0000115 nl A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells NOT_TRANSLATED +en A rare pediatric carcinoma of the pancreas HP:0100757 IAO:0000115 nl A rare pediatric carcinoma of the pancreas NOT_TRANSLATED +en A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts HP:0006733 IAO:0000115 nl A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts NOT_TRANSLATED +en A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed HP:0004952 IAO:0000115 nl A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed NOT_TRANSLATED +en A rare, benign soft tissue tumor that typically occurs within the first two years of life HP:0100882 IAO:0000115 nl A rare, benign soft tissue tumor that typically occurs within the first two years of life NOT_TRANSLATED +en A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites HP:0033987 IAO:0000115 nl A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites NOT_TRANSLATED +en A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females HP:0034343 IAO:0000115 nl A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females NOT_TRANSLATED +en A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils HP:0033605 IAO:0000115 nl A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils NOT_TRANSLATED +en A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal HP:0012558 IAO:0000115 nl A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal NOT_TRANSLATED +en A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal HP:0012559 IAO:0000115 nl A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal NOT_TRANSLATED +en A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal HP:0012560 IAO:0000115 nl A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal NOT_TRANSLATED +en A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract HP:4000055 IAO:0000115 nl A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract NOT_TRANSLATED +en A recurrent form of pancreatitis HP:0100027 IAO:0000115 nl A recurrent form of pancreatitis NOT_TRANSLATED +en A recurrent form of sinusitis HP:0011108 IAO:0000115 nl A recurrent form of sinusitis NOT_TRANSLATED +en A recurrent hemorrhage occurring within the lung HP:0006535 IAO:0000115 nl A recurrent hemorrhage occurring within the lung NOT_TRANSLATED +en A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach HP:0005202 IAO:0000115 nl A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach NOT_TRANSLATED +en A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains HP:0030858 IAO:0000115 nl A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains NOT_TRANSLATED +en A red eruption of the skin HP:0000988 IAO:0000115 nl A red eruption of the skin NOT_TRANSLATED +en A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera HP:0025337 IAO:0000115 nl A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera NOT_TRANSLATED +en A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels HP:0033832 IAO:0000115 nl A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels NOT_TRANSLATED +en A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of HP:0005384 IAO:0000115 nl A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of NOT_TRANSLATED +en A reduced ability of a T cell population to expand by cell division following T cell activation HP:0030253 IAO:0000115 nl A reduced ability of a T cell population to expand by cell division following T cell activation NOT_TRANSLATED +en A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth) HP:0030331 IAO:0000115 nl A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth) NOT_TRANSLATED +en A reduced ability to discriminate between different temperatures HP:0010829 IAO:0000115 nl A reduced ability to discriminate between different temperatures NOT_TRANSLATED +en A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart HP:0011810 IAO:0000115 nl A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart NOT_TRANSLATED +en A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head HP:0033482 IAO:0000115 nl A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head NOT_TRANSLATED +en A reduced ability to heal cutaneous wounds HP:0001058 IAO:0000115 nl A reduced ability to heal cutaneous wounds NOT_TRANSLATED +en A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip HP:0011811 IAO:0000115 nl A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip NOT_TRANSLATED +en A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first HP:0012760 IAO:0000115 nl A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first NOT_TRANSLATED +en A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol HP:0011748 IAO:0000115 nl A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol NOT_TRANSLATED +en A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH) HP:0008213 IAO:0000115 nl A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH) NOT_TRANSLATED +en A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection HP:0410308 IAO:0000115 nl A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination HP:0410305 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination HP:0410298 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination HP:0410306 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination HP:0410301 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination HP:0410297 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination HP:0410299 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination HP:0410302 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination HP:0410294 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination HP:0032140 IAO:0000115 nl A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness HP:0003758 IAO:0000115 nl A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness NOT_TRANSLATED +en A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 HP:0030094 IAO:0000115 nl A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1 NOT_TRANSLATED +en A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue HP:0030092 IAO:0000115 nl A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue NOT_TRANSLATED +en A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis HP:4000057 IAO:0000115 nl A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis NOT_TRANSLATED +en A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin) HP:0033527 IAO:0000115 nl A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin) NOT_TRANSLATED +en A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process HP:0031136 IAO:0000115 nl A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process NOT_TRANSLATED +en A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity HP:0031032 IAO:0000115 nl A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity NOT_TRANSLATED +en A reduced cardiac index, defined as cardiac output divided by body surface area HP:0033531 IAO:0000115 nl A reduced cardiac index, defined as cardiac output divided by body surface area NOT_TRANSLATED +en A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue HP:0030685 IAO:0000115 nl A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue NOT_TRANSLATED +en A reduced circulating concentration of folic acid, which is also known as vitamin B9 HP:0100507 IAO:0000115 nl A reduced circulating concentration of folic acid, which is also known as vitamin B9 NOT_TRANSLATED +en A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite HP:0012446 IAO:0000115 nl A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite NOT_TRANSLATED +en A reduced concentration of Vitamin C HP:0100510 IAO:0000115 nl A reduced concentration of Vitamin C NOT_TRANSLATED +en A reduced concentration of Vitamin D HP:0100512 IAO:0000115 nl A reduced concentration of Vitamin D NOT_TRANSLATED +en A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3 HP:0012053 IAO:0000115 nl A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3 NOT_TRANSLATED +en A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 HP:0012052 IAO:0000115 nl A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 NOT_TRANSLATED +en A reduced concentration of chenodeoxycholic acid in the blood circulation HP:0034048 IAO:0000115 nl A reduced concentration of chenodeoxycholic acid in the blood circulation NOT_TRANSLATED +en A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs HP:0032025 IAO:0000115 nl A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs NOT_TRANSLATED +en A reduced concentration of copper in the blood HP:0011967 IAO:0000115 nl A reduced concentration of copper in the blood NOT_TRANSLATED +en A reduced concentration of dehydroepiandrosterone-sulfate in the blood HP:0031215 IAO:0000115 nl A reduced concentration of dehydroepiandrosterone-sulfate in the blood NOT_TRANSLATED +en A reduced concentration of dihydrotestosterone in the blood circulation HP:0033810 IAO:0000115 nl A reduced concentration of dihydrotestosterone in the blood circulation NOT_TRANSLATED +en A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid HP:0410209 IAO:0000115 nl A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid NOT_TRANSLATED +en A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation HP:0032210 IAO:0000115 nl A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation NOT_TRANSLATED +en A reduced concentration of free thyroxine (fT4) in the blood circulation HP:0033078 IAO:0000115 nl A reduced concentration of free thyroxine (fT4) in the blood circulation NOT_TRANSLATED +en A reduced concentration of glucagon in the blood circulation HP:0030689 IAO:0000115 nl A reduced concentration of glucagon in the blood circulation NOT_TRANSLATED +en A reduced concentration of inhibin B in the blood HP:0031100 IAO:0000115 nl A reduced concentration of inhibin B in the blood NOT_TRANSLATED +en A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status HP:0031085 IAO:0000115 nl A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status NOT_TRANSLATED +en A reduced concentration of tocopherol in fat tissue HP:0032655 IAO:0000115 nl A reduced concentration of tocopherol in fat tissue NOT_TRANSLATED +en A reduced concentration of vitamin A HP:0004905 IAO:0000115 nl A reduced concentration of vitamin A NOT_TRANSLATED +en A reduced concentration of vitamin B1 HP:0100503 IAO:0000115 nl A reduced concentration of vitamin B1 NOT_TRANSLATED +en A reduced concentration of vitamin B2 HP:0100504 IAO:0000115 nl A reduced concentration of vitamin B2 NOT_TRANSLATED +en A reduced concentration of vitamin B5 HP:0100505 IAO:0000115 nl A reduced concentration of vitamin B5 NOT_TRANSLATED +en A reduced concentration of vitamin B8 HP:0100506 IAO:0000115 nl A reduced concentration of vitamin B8 NOT_TRANSLATED +en A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol HP:0100513 IAO:0000115 nl A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol NOT_TRANSLATED +en A reduced concentration of vitamin K HP:0011892 IAO:0000115 nl A reduced concentration of vitamin K NOT_TRANSLATED +en A reduced concentration of zinc in the blood HP:0031831 IAO:0000115 nl A reduced concentration of zinc in the blood NOT_TRANSLATED +en A reduced count of megakaryocytes HP:0005548 IAO:0000115 nl A reduced count of megakaryocytes NOT_TRANSLATED +en A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation HP:0000338 IAO:0000115 nl A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation NOT_TRANSLATED +en A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions HP:0004673 IAO:0000115 nl A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions NOT_TRANSLATED +en A reduced desire to eat HP:0004396 IAO:0000115 nl A reduced desire to eat NOT_TRANSLATED +en A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly HP:0005185 IAO:0000115 nl A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly NOT_TRANSLATED +en A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling HP:0025022 IAO:0000115 nl A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling NOT_TRANSLATED +en A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation HP:0030353 IAO:0000115 nl A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED +en A reduced level of osteocalcin in the blood HP:0031429 IAO:0000115 nl A reduced level of osteocalcin in the blood NOT_TRANSLATED +en A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production HP:0008202 IAO:0000115 nl A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production NOT_TRANSLATED +en A reduced level of the complement component C3 in circulation HP:0005421 IAO:0000115 nl A reduced level of the complement component C3 in circulation NOT_TRANSLATED +en A reduced level of the complement component C4 in the circulation HP:0045042 IAO:0000115 nl A reduced level of the complement component C4 in the circulation NOT_TRANSLATED +en A reduced level of the complement component C4a in circulation HP:0045043 IAO:0000115 nl A reduced level of the complement component C4a in circulation NOT_TRANSLATED +en A reduced level of the complement component C4b in circulation HP:0045044 IAO:0000115 nl A reduced level of the complement component C4b in circulation NOT_TRANSLATED +en A reduced level of the complement component C5 in the blood circulation HP:0033060 IAO:0000115 nl A reduced level of the complement component C5 in the blood circulation NOT_TRANSLATED +en A reduced level of the complement component C6 in the blood circulation HP:0033059 IAO:0000115 nl A reduced level of the complement component C6 in the blood circulation NOT_TRANSLATED +en A reduced level of the complement component C7 in the blood circulation HP:0033058 IAO:0000115 nl A reduced level of the complement component C7 in the blood circulation NOT_TRANSLATED +en A reduced level of the complement component C8 in circulation HP:0004434 IAO:0000115 nl A reduced level of the complement component C8 in circulation NOT_TRANSLATED +en A reduced level of the complement component C9 in circulation HP:0012308 IAO:0000115 nl A reduced level of the complement component C9 in circulation NOT_TRANSLATED +en A reduced level of the complement component Factor H in circulation HP:0005369 IAO:0000115 nl A reduced level of the complement component Factor H in circulation NOT_TRANSLATED +en A reduced level of the complement component Factor I in circulation HP:0005356 IAO:0000115 nl A reduced level of the complement component Factor I in circulation NOT_TRANSLATED +en A reduced level of the complement component factor B in circulation HP:0005416 IAO:0000115 nl A reduced level of the complement component factor B in circulation NOT_TRANSLATED +en A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat HP:0005528 IAO:0000115 nl A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat NOT_TRANSLATED +en A reduced number of large myelinated nerve fibers HP:0003387 IAO:0000115 nl A reduced number of large myelinated nerve fibers NOT_TRANSLATED +en A reduced number of lymphocytes in the blood HP:0001888 IAO:0000115 nl A reduced number of lymphocytes in the blood NOT_TRANSLATED +en A reduced number of platelet alpha granules HP:0033536 IAO:0000115 nl A reduced number of platelet alpha granules NOT_TRANSLATED +en A reduced number of reticulocytes in the peripheral blood HP:0001896 IAO:0000115 nl A reduced number of reticulocytes in the peripheral blood NOT_TRANSLATED +en A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410389 IAO:0000115 nl A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410390 IAO:0000115 nl A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410388 IAO:0000115 nl A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion HP:0034011 IAO:0000115 nl A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion NOT_TRANSLATED +en A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine HP:0033507 IAO:0000115 nl A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine NOT_TRANSLATED +en A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus HP:0006937 IAO:0000115 nl A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus NOT_TRANSLATED +en A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus HP:0010830 IAO:0000115 nl A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus NOT_TRANSLATED +en A reduction below normal concentration of estradiol in the circulation HP:0008214 IAO:0000115 nl A reduction below normal concentration of estradiol in the circulation NOT_TRANSLATED +en A reduction below normal limits of estriol in the circulation HP:0025137 IAO:0000115 nl A reduction below normal limits of estriol in the circulation NOT_TRANSLATED +en A reduction below normal limits of the concentration of estrone in the circulation HP:0025140 IAO:0000115 nl A reduction below normal limits of the concentration of estrone in the circulation NOT_TRANSLATED +en A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration HP:0030978 IAO:0000115 nl A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration NOT_TRANSLATED +en A reduction below normal of fetuin A in the blood circulation HP:0033306 IAO:0000115 nl A reduction below normal of fetuin A in the blood circulation NOT_TRANSLATED +en A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen HP:0030372 IAO:0000115 nl A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen NOT_TRANSLATED +en A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood HP:0032135 IAO:0000115 nl A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood NOT_TRANSLATED +en A reduction below the normal concentration of fibronectin the the blood circulation HP:0032463 IAO:0000115 nl A reduction below the normal concentration of fibronectin the the blood circulation NOT_TRANSLATED +en A reduction below the normal concentration of manganese in the blood HP:0032098 IAO:0000115 nl A reduction below the normal concentration of manganese in the blood NOT_TRANSLATED +en A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm HP:0032421 IAO:0000115 nl A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm NOT_TRANSLATED +en A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm HP:0032423 IAO:0000115 nl A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED +en A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm HP:0032429 IAO:0000115 nl A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm NOT_TRANSLATED +en A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm HP:0032431 IAO:0000115 nl A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm NOT_TRANSLATED +en A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm HP:0032433 IAO:0000115 nl A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm NOT_TRANSLATED +en A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) HP:0031507 IAO:0000115 nl A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) NOT_TRANSLATED +en A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells HP:0032126 IAO:0000115 nl A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells NOT_TRANSLATED +en A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells HP:0032129 IAO:0000115 nl A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells NOT_TRANSLATED +en A reduction below the normal range of the antimullerian hormone in the circulation HP:0031103 IAO:0000115 nl A reduction below the normal range of the antimullerian hormone in the circulation NOT_TRANSLATED +en A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration HP:0034450 IAO:0000115 nl A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration NOT_TRANSLATED +en A reduction below the normal ratio of the volume of red blood cells to the total volume of blood HP:0031851 IAO:0000115 nl A reduction below the normal ratio of the volume of red blood cells to the total volume of blood NOT_TRANSLATED +en A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood HP:0032132 IAO:0000115 nl A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood NOT_TRANSLATED +en A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled HP:0032359 IAO:0000115 nl A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled NOT_TRANSLATED +en A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication HP:0032361 IAO:0000115 nl A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication NOT_TRANSLATED +en A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication HP:0032360 IAO:0000115 nl A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication NOT_TRANSLATED +en A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters) HP:0025066 IAO:0000115 nl A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters) NOT_TRANSLATED +en A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) HP:0025684 IAO:0000115 nl A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation HP:0031426 IAO:0000115 nl A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation NOT_TRANSLATED +en A reduction from the normal concentration of prealbumin in the blood circulation HP:0033452 IAO:0000115 nl A reduction from the normal concentration of prealbumin in the blood circulation NOT_TRANSLATED +en A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface HP:0031390 IAO:0000115 nl A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface NOT_TRANSLATED +en A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced HP:0025547 IAO:0000115 nl A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced NOT_TRANSLATED +en A reduction in aldehyde oxidase level HP:0002932 IAO:0000115 nl A reduction in aldehyde oxidase level NOT_TRANSLATED +en A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles HP:0033665 IAO:0000115 nl A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles NOT_TRANSLATED +en A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located HP:0032458 IAO:0000115 nl A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located NOT_TRANSLATED +en A reduction in diameter of the distal phalanx of finger towards the distal end HP:0009884 IAO:0000115 nl A reduction in diameter of the distal phalanx of finger towards the distal end NOT_TRANSLATED +en A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms) HP:0006224 IAO:0000115 nl A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms) NOT_TRANSLATED +en A reduction in erythrocytes volume or hemoglobin concentration HP:0001903 IAO:0000115 nl A reduction in erythrocytes volume or hemoglobin concentration NOT_TRANSLATED +en A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action HP:0000745 IAO:0000115 nl A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action NOT_TRANSLATED +en A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation HP:0032136 IAO:0000115 nl A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation NOT_TRANSLATED +en A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation HP:0008348 IAO:0000115 nl A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation NOT_TRANSLATED +en A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation HP:0032137 IAO:0000115 nl A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation NOT_TRANSLATED +en A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation HP:0032138 IAO:0000115 nl A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation NOT_TRANSLATED +en A reduction in methionine synthase activity HP:0003524 IAO:0000115 nl A reduction in methionine synthase activity NOT_TRANSLATED +en A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) HP:0030378 IAO:0000115 nl A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) NOT_TRANSLATED +en A reduction in phenylalanine 4-monooxygenase level HP:0005982 IAO:0000115 nl A reduction in phenylalanine 4-monooxygenase level NOT_TRANSLATED +en A reduction in the ability of neutrophils to kill bacteria HP:0011993 IAO:0000115 nl A reduction in the ability of neutrophils to kill bacteria NOT_TRANSLATED +en A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph HP:0005512 IAO:0000115 nl A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph NOT_TRANSLATED +en A reduction in the ability of the kidneys to remove uric acid from the serum HP:0004732 IAO:0000115 nl A reduction in the ability of the kidneys to remove uric acid from the serum NOT_TRANSLATED +en A reduction in the ability to maintain sustained attention characterized by reduced alertness HP:0032044 IAO:0000115 nl A reduction in the ability to maintain sustained attention characterized by reduced alertness NOT_TRANSLATED +en A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning HP:0033666 IAO:0000115 nl A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning NOT_TRANSLATED +en A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument HP:0033691 IAO:0000115 nl A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument NOT_TRANSLATED +en A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain HP:0011925 IAO:0000115 nl A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain NOT_TRANSLATED +en A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria HP:0011923 IAO:0000115 nl A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria NOT_TRANSLATED +en A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria HP:0008314 IAO:0000115 nl A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria NOT_TRANSLATED +en A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria HP:0011924 IAO:0000115 nl A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria NOT_TRANSLATED +en A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria HP:0008347 IAO:0000115 nl A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria NOT_TRANSLATED +en A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide) HP:0002791 IAO:0000115 nl A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide) NOT_TRANSLATED +en A reduction in the amount of galactose residues of N-glycans HP:0012348 IAO:0000115 nl A reduction in the amount of galactose residues of N-glycans NOT_TRANSLATED +en A reduction in the amount of very-low-density lipoprotein cholesterol in the blood HP:0031243 IAO:0000115 nl A reduction in the amount of very-low-density lipoprotein cholesterol in the blood NOT_TRANSLATED +en A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies HP:0007230 IAO:0000115 nl A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies NOT_TRANSLATED +en A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies HP:0007078 IAO:0000115 nl A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies NOT_TRANSLATED +en A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone HP:0030349 IAO:0000115 nl A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone NOT_TRANSLATED +en A reduction in the circulating level of luteinizing hormone (LH) HP:0030344 IAO:0000115 nl A reduction in the circulating level of luteinizing hormone (LH) NOT_TRANSLATED +en A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes HP:0003139 IAO:0000115 nl A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes NOT_TRANSLATED +en A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid HP:0032575 IAO:0000115 nl A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid NOT_TRANSLATED +en A reduction in the concentration of bile acid in the blood HP:0030985 IAO:0000115 nl A reduction in the concentration of bile acid in the blood NOT_TRANSLATED +en A reduction in the concentration of interferon gamma measured in the blood circulation HP:0033253 IAO:0000115 nl A reduction in the concentration of interferon gamma measured in the blood circulation NOT_TRANSLATED +en A reduction in the concentration of thromboxane B2 in the blood circulation HP:0032244 IAO:0000115 nl A reduction in the concentration of thromboxane B2 in the blood circulation NOT_TRANSLATED +en A reduction in the count of nephrons per kidney HP:0005563 IAO:0000115 nl A reduction in the count of nephrons per kidney NOT_TRANSLATED +en A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue HP:0030046 IAO:0000115 nl A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue NOT_TRANSLATED +en A reduction in the expression of CD43 on the cell surface of lymphocytes HP:0001983 IAO:0000115 nl A reduction in the expression of CD43 on the cell surface of lymphocytes NOT_TRANSLATED +en A reduction in the freedom of movement of one or more joints HP:0001376 IAO:0000115 nl A reduction in the freedom of movement of one or more joints NOT_TRANSLATED +en A reduction in the length of time required for food to pass through the intestines HP:0030897 IAO:0000115 nl A reduction in the length of time required for food to pass through the intestines NOT_TRANSLATED +en A reduction in the level of carnitine in muscle tissue HP:0030362 IAO:0000115 nl A reduction in the level of carnitine in muscle tissue NOT_TRANSLATED +en A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism HP:0000083 IAO:0000115 nl A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism NOT_TRANSLATED +en A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood HP:0025659 IAO:0000115 nl A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood NOT_TRANSLATED +en A reduction in the level of thymic horomone HP:0003357 IAO:0000115 nl A reduction in the level of thymic horomone NOT_TRANSLATED +en A reduction in the magnitude or amount of ossification of the skull HP:0004331 IAO:0000115 nl A reduction in the magnitude or amount of ossification of the skull NOT_TRANSLATED +en A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways HP:0032355 IAO:0000115 nl A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways NOT_TRANSLATED +en A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA HP:0030388 IAO:0000115 nl A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA NOT_TRANSLATED +en A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells HP:0030384 IAO:0000115 nl A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells NOT_TRANSLATED +en A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) HP:0030374 IAO:0000115 nl A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) NOT_TRANSLATED +en A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells HP:0030380 IAO:0000115 nl A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells NOT_TRANSLATED +en A reduction in the number of axons in the peripheral nervous system HP:0003447 IAO:0000115 nl A reduction in the number of axons in the peripheral nervous system NOT_TRANSLATED +en A reduction in the number of calories used per unit time HP:0012340 IAO:0000115 nl A reduction in the number of calories used per unit time NOT_TRANSLATED +en A reduction in the number of circulating thrombocytes HP:0001873 IAO:0000115 nl A reduction in the number of circulating thrombocytes NOT_TRANSLATED +en A reduction in the number of corneal endothelial cells HP:0011491 IAO:0000115 nl A reduction in the number of corneal endothelial cells NOT_TRANSLATED +en A reduction in the number of nerve cells in the basal ganglia HP:0200147 IAO:0000115 nl A reduction in the number of nerve cells in the basal ganglia NOT_TRANSLATED +en A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19 HP:0020048 IAO:0000115 nl A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19 NOT_TRANSLATED +en A reduction in the proportion of CD4-positive T cells relative to the total number of T cells HP:0032218 IAO:0000115 nl A reduction in the proportion of CD4-positive T cells relative to the total number of T cells NOT_TRANSLATED +en A reduction in the quantity of space occupied by the thalamus HP:0012695 IAO:0000115 nl A reduction in the quantity of space occupied by the thalamus NOT_TRANSLATED +en A reduction in the rate of apoptosis in lymphocytes HP:0002731 IAO:0000115 nl A reduction in the rate of apoptosis in lymphocytes NOT_TRANSLATED +en A reduction in the rate of cholesterol esterification HP:0003349 IAO:0000115 nl A reduction in the rate of cholesterol esterification NOT_TRANSLATED +en A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia HP:0011907 IAO:0000115 nl A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia NOT_TRANSLATED +en A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia HP:0011906 IAO:0000115 nl A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia NOT_TRANSLATED +en A reduction in the size of nerve terminals HP:0003443 IAO:0000115 nl A reduction in the size of nerve terminals NOT_TRANSLATED +en A reduction in the speed at which electrical signals propagate along the axon of a neuron HP:0000762 IAO:0000115 nl A reduction in the speed at which electrical signals propagate along the axon of a neuron NOT_TRANSLATED +en A reduction in the subjective feeling of mental well being HP:0033667 IAO:0000115 nl A reduction in the subjective feeling of mental well being NOT_TRANSLATED +en A reduction in the thickness of Descemet's membrane HP:0031159 IAO:0000115 nl A reduction in the thickness of Descemet's membrane NOT_TRANSLATED +en A reduction in the thickness of the outer shell (cortex) of foot bones HP:0025333 IAO:0000115 nl A reduction in the thickness of the outer shell (cortex) of foot bones NOT_TRANSLATED +en A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity HP:0033211 IAO:0000115 nl A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity NOT_TRANSLATED +en A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590) HP:0032122 IAO:0000115 nl A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590) NOT_TRANSLATED +en A reduction in voltage of the PR segment below baseline HP:0031594 IAO:0000115 nl A reduction in voltage of the PR segment below baseline NOT_TRANSLATED +en A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones HP:0004349 IAO:0000115 nl A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones NOT_TRANSLATED +en A reduction of corneal clarity HP:0007957 IAO:0000115 nl A reduction of corneal clarity NOT_TRANSLATED +en A reduction of joint mobility resulting from changes involving the articular surfaces HP:0031013 IAO:0000115 nl A reduction of joint mobility resulting from changes involving the articular surfaces NOT_TRANSLATED +en A reduction of previously attained ability to see HP:0000529 IAO:0000115 nl A reduction of previously attained ability to see NOT_TRANSLATED +en A reduction of skin color related to a decrease in melanin production and deposition HP:0001010 IAO:0000115 nl A reduction of skin color related to a decrease in melanin production and deposition NOT_TRANSLATED +en A reduction of the addition of fucose sugar units to O-linked glycans HP:0012360 IAO:0000115 nl A reduction of the addition of fucose sugar units to O-linked glycans NOT_TRANSLATED +en A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) HP:0030339 IAO:0000115 nl A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) NOT_TRANSLATED +en A reduction of the circulating level of follicle-stimulating hormone (FSH) HP:0030341 IAO:0000115 nl A reduction of the circulating level of follicle-stimulating hormone (FSH) NOT_TRANSLATED +en A reduction of the distance between the lower thoracic vertebral pedicles HP:0008470 IAO:0000115 nl A reduction of the distance between the lower thoracic vertebral pedicles NOT_TRANSLATED +en A reduction of the distance between thoracolumbar vertebral pedicles HP:0008484 IAO:0000115 nl A reduction of the distance between thoracolumbar vertebral pedicles NOT_TRANSLATED +en A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces HP:0008450 IAO:0000115 nl A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces NOT_TRANSLATED +en A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid HP:0012641 IAO:0000115 nl A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid NOT_TRANSLATED +en A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01 HP:0003513 IAO:0000115 nl A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01 NOT_TRANSLATED +en A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord HP:0040272 IAO:0000115 nl A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord NOT_TRANSLATED +en A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain HP:0032086 IAO:0000115 nl A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain NOT_TRANSLATED +en A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision HP:0000575 IAO:0000115 nl A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision NOT_TRANSLATED +en A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account HP:0004482 IAO:0000115 nl A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account NOT_TRANSLATED +en A renal cyst characterized by epithelium lined space (squamous/columnar) with septations HP:0032963 IAO:0000115 nl A renal cyst characterized by epithelium lined space (squamous/columnar) with septations NOT_TRANSLATED +en A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm HP:0011798 IAO:0000115 nl A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm NOT_TRANSLATED +en A repeated, painful urge to defecate without excreting stool HP:0012702 IAO:0000115 nl A repeated, painful urge to defecate without excreting stool NOT_TRANSLATED +en A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts HP:0025696 IAO:0000115 nl A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts NOT_TRANSLATED +en A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse HP:0002322 IAO:0000115 nl A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse NOT_TRANSLATED +en A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather HP:0000965 IAO:0000115 nl A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather NOT_TRANSLATED +en A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray HP:0033539 IAO:0000115 nl A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray NOT_TRANSLATED +en A reticulocyte abnormality HP:0004312 IAO:0000115 nl A reticulocyte abnormality NOT_TRANSLATED +en A retinal exudate in the area surrounding the optic nerve head HP:0025093 IAO:0000115 nl A retinal exudate in the area surrounding the optic nerve head NOT_TRANSLATED +en A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease HP:0500064 IAO:0000115 nl A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease NOT_TRANSLATED +en A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night HP:0031849 IAO:0000115 nl A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night NOT_TRANSLATED +en A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm HP:0034402 IAO:0000115 nl A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm NOT_TRANSLATED +en A ring of redness at the limbus of the eye, the border between the cornea and the sclera HP:0025338 IAO:0000115 nl A ring of redness at the limbus of the eye, the border between the cornea and the sclera NOT_TRANSLATED +en A root of a tooth that is more rounded than normal HP:4000104 IAO:0000115 nl A root of a tooth that is more rounded than normal NOT_TRANSLATED +en A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid HP:0032445 IAO:0000115 nl A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid NOT_TRANSLATED +en A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis HP:0001552 IAO:0000115 nl A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis NOT_TRANSLATED +en A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin HP:0500011 IAO:0000115 nl A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin NOT_TRANSLATED +en A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary HP:0000897 IAO:0000115 nl A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary NOT_TRANSLATED +en A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear) HP:0004451 IAO:0000115 nl A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear) NOT_TRANSLATED +en A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear) HP:0000384 IAO:0000115 nl A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear) NOT_TRANSLATED +en A rupture of the cornea through which a portion of the iris protrudes HP:0100583 IAO:0000115 nl A rupture of the cornea through which a portion of the iris protrudes NOT_TRANSLATED +en A saccade that overshoots the target with the dynamic saccade HP:0007338 IAO:0000115 nl A saccade that overshoots the target with the dynamic saccade NOT_TRANSLATED +en A sarcoma of the kidney HP:0008663 IAO:0000115 nl A sarcoma of the kidney NOT_TRANSLATED +en A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color HP:0025127 IAO:0000115 nl A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color NOT_TRANSLATED +en A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed HP:0100699 IAO:0000115 nl A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed NOT_TRANSLATED +en A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit HP:0025604 IAO:0000115 nl A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit NOT_TRANSLATED +en A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights HP:0010822 IAO:0000115 nl A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights NOT_TRANSLATED +en A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time HP:0100884 IAO:0000115 nl A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time NOT_TRANSLATED +en A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape HP:0000576 IAO:0000115 nl A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape NOT_TRANSLATED +en A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point HP:0007761 IAO:0000115 nl A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point NOT_TRANSLATED +en A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009548 IAO:0000115 nl A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0010253 IAO:0000115 nl A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009188 IAO:0000115 nl A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009257 IAO:0000115 nl A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009509 IAO:0000115 nl A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009342 IAO:0000115 nl A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009389 IAO:0000115 nl A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009400 IAO:0000115 nl A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0010264 IAO:0000115 nl A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009210 IAO:0000115 nl A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009221 IAO:0000115 nl A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009520 IAO:0000115 nl A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009328 IAO:0000115 nl A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0010235 IAO:0000115 nl A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0010275 IAO:0000115 nl A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009200 IAO:0000115 nl A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009268 IAO:0000115 nl A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009531 IAO:0000115 nl A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009353 IAO:0000115 nl A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009495 IAO:0000115 nl A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone HP:0009417 IAO:0000115 nl A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone NOT_TRANSLATED +en A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence HP:0100719 IAO:0000115 nl A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence NOT_TRANSLATED +en A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves HP:0003481 IAO:0000115 nl A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves NOT_TRANSLATED +en A seizure characterized by a sensation in the head such as light-headedness or headache HP:0032873 IAO:0000115 nl A seizure characterized by a sensation in the head such as light-headedness or headache NOT_TRANSLATED +en A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation HP:0032810 IAO:0000115 nl A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation NOT_TRANSLATED +en A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation HP:0011158 IAO:0000115 nl A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation NOT_TRANSLATED +en A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis HP:0032851 IAO:0000115 nl A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis NOT_TRANSLATED +en A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation HP:0011165 IAO:0000115 nl A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation NOT_TRANSLATED +en A seizure characterized by sensations of feeling hot and then cold HP:0032877 IAO:0000115 nl A seizure characterized by sensations of feeling hot and then cold NOT_TRANSLATED +en A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation HP:0032760 IAO:0000115 nl A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation NOT_TRANSLATED +en A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation HP:0011163 IAO:0000115 nl A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation NOT_TRANSLATED +en A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure HP:0032884 IAO:0000115 nl A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure NOT_TRANSLATED +en A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation HP:0032800 IAO:0000115 nl A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation NOT_TRANSLATED +en A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation HP:0032759 IAO:0000115 nl A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation NOT_TRANSLATED +en A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes HP:0032889 IAO:0000115 nl A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes NOT_TRANSLATED +en A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation HP:0011160 IAO:0000115 nl A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation NOT_TRANSLATED +en A seizure during pregnancy HP:0100622 IAO:0000115 nl A seizure during pregnancy NOT_TRANSLATED +en A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain HP:0001250 IAO:0000115 nl A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain NOT_TRANSLATED +en A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult HP:0032656 IAO:0000115 nl A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult NOT_TRANSLATED +en A seizure occurring within the neonatal period (28 days beyond the full term date) HP:0032807 IAO:0000115 nl A seizure occurring within the neonatal period (28 days beyond the full term date) NOT_TRANSLATED +en A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period HP:0020208 IAO:0000115 nl A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period NOT_TRANSLATED +en A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making HP:0020210 IAO:0000115 nl A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making NOT_TRANSLATED +en A seizure precipitated by movement or a change in posture HP:0020211 IAO:0000115 nl A seizure precipitated by movement or a change in posture NOT_TRANSLATED +en A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger HP:0020209 IAO:0000115 nl A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger NOT_TRANSLATED +en A seizure precipitated by reading HP:0020212 IAO:0000115 nl A seizure precipitated by reading NOT_TRANSLATED +en A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed HP:0011145 IAO:0000115 nl A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed NOT_TRANSLATED +en A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown HP:0033259 IAO:0000115 nl A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown NOT_TRANSLATED +en A sensation of breathlessness in the recumbent position, relieved by sitting or standing HP:0012764 IAO:0000115 nl A sensation of breathlessness in the recumbent position, relieved by sitting or standing NOT_TRANSLATED +en A sensation of itching in the vagina HP:0030161 IAO:0000115 nl A sensation of itching in the vagina NOT_TRANSLATED +en A sensation of itching in the vulvar region HP:0032004 IAO:0000115 nl A sensation of itching in the vulvar region NOT_TRANSLATED +en A sensation of stiffness in the joints that occurs following waking up in the morning HP:0005197 IAO:0000115 nl A sensation of stiffness in the joints that occurs following waking up in the morning NOT_TRANSLATED +en A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity HP:0025261 IAO:0000115 nl A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED +en A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity HP:0025265 IAO:0000115 nl A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED +en A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity HP:0025264 IAO:0000115 nl A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED +en A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity HP:0025259 IAO:0000115 nl A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED +en A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity HP:0025262 IAO:0000115 nl A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED +en A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity HP:0025263 IAO:0000115 nl A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED +en A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side HP:0025258 IAO:0000115 nl A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side NOT_TRANSLATED +en A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity HP:0025260 IAO:0000115 nl A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity NOT_TRANSLATED +en A sensation of unease in the stomach together with an urge to vomit HP:0002018 IAO:0000115 nl A sensation of unease in the stomach together with an urge to vomit NOT_TRANSLATED +en A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia HP:0001962 IAO:0000115 nl A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia NOT_TRANSLATED +en A sense of intense joy or happiness that is beyond what would be expected under the given circumstances HP:0031844 IAO:0000115 nl A sense of intense joy or happiness that is beyond what would be expected under the given circumstances NOT_TRANSLATED +en A separation (dissection) of the layers of an artery HP:0005294 IAO:0000115 nl A separation (dissection) of the layers of an artery NOT_TRANSLATED +en A separation (dissection) of the layers of the carotid artery wall HP:0012158 IAO:0000115 nl A separation (dissection) of the layers of the carotid artery wall NOT_TRANSLATED +en A separation (dissection) of the layers of the celiac artery wall HP:0033982 IAO:0000115 nl A separation (dissection) of the layers of the celiac artery wall NOT_TRANSLATED +en A separation (dissection) of the layers of the common carotid artery wall HP:0012162 IAO:0000115 nl A separation (dissection) of the layers of the common carotid artery wall NOT_TRANSLATED +en A separation (dissection) of the layers of the external carotid artery wall HP:0012161 IAO:0000115 nl A separation (dissection) of the layers of the external carotid artery wall NOT_TRANSLATED +en A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall HP:0004945 IAO:0000115 nl A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall NOT_TRANSLATED +en A separation (dissection) of the layers of the internal carotid artery wall HP:0012159 IAO:0000115 nl A separation (dissection) of the layers of the internal carotid artery wall NOT_TRANSLATED +en A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall HP:0012160 IAO:0000115 nl A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall NOT_TRANSLATED +en A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue HP:0025672 IAO:0000115 nl A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue NOT_TRANSLATED +en A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space HP:0004933 IAO:0000115 nl A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space NOT_TRANSLATED +en A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space HP:0012499 IAO:0000115 nl A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space NOT_TRANSLATED +en A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba) HP:0001540 IAO:0000115 nl A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba) NOT_TRANSLATED +en A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch HP:0002169 IAO:0000115 nl A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch NOT_TRANSLATED +en A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis) HP:0100758 IAO:0000115 nl A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis) NOT_TRANSLATED +en A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation HP:0031250 IAO:0000115 nl A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation NOT_TRANSLATED +en A severe degree of muscular hypotonia characterized by markedly reduced muscle tone HP:0006829 IAO:0000115 nl A severe degree of muscular hypotonia characterized by markedly reduced muscle tone NOT_TRANSLATED +en A severe degree of photosensitivity of the skin HP:0007537 IAO:0000115 nl A severe degree of photosensitivity of the skin NOT_TRANSLATED +en A severe degree of short stature, more than -4 SD from the mean corrected for age and sex HP:0003510 IAO:0000115 nl A severe degree of short stature, more than -4 SD from the mean corrected for age and sex NOT_TRANSLATED +en A severe delay in the achievement of motor or mental milestones in the domains of development of a child HP:0011344 IAO:0000115 nl A severe delay in the achievement of motor or mental milestones in the domains of development of a child NOT_TRANSLATED +en A severe delay in the acquisition of the ability to understand the speech of others HP:0011352 IAO:0000115 nl A severe delay in the acquisition of the ability to understand the speech of others NOT_TRANSLATED +en A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts HP:0006863 IAO:0000115 nl A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts NOT_TRANSLATED +en A severe form of B lymphocytopenia in which the count of B cells is very low or absent HP:0005365 IAO:0000115 nl A severe form of B lymphocytopenia in which the count of B cells is very low or absent NOT_TRANSLATED +en A severe form of conductive hearing impairment HP:0012717 IAO:0000115 nl A severe form of conductive hearing impairment NOT_TRANSLATED +en A severe form of gait ataxia such that an affected person cannot walk at all HP:0012651 IAO:0000115 nl A severe form of gait ataxia such that an affected person cannot walk at all NOT_TRANSLATED +en A severe form of hearing impairment HP:0012714 IAO:0000115 nl A severe form of hearing impairment NOT_TRANSLATED +en A severe form of hypermetropia with over +5.00 diopters HP:0008499 IAO:0000115 nl A severe form of hypermetropia with over +5.00 diopters NOT_TRANSLATED +en A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum HP:0000808 IAO:0000115 nl A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum NOT_TRANSLATED +en A severe form of lactic acidemia HP:0004900 IAO:0000115 nl A severe form of lactic acidemia NOT_TRANSLATED +en A severe form of myopia with greater than -6.00 diopters HP:0011003 IAO:0000115 nl A severe form of myopia with greater than -6.00 diopters NOT_TRANSLATED +en A severe form of periodontitis HP:0000166 IAO:0000115 nl A severe form of periodontitis NOT_TRANSLATED +en A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits HP:0002878 IAO:0000115 nl A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits NOT_TRANSLATED +en A severe form of sensorineural hearing impairment HP:0008625 IAO:0000115 nl A severe form of sensorineural hearing impairment NOT_TRANSLATED +en A severe loss of myelin from nerve fibers in the central nervous system HP:0007258 IAO:0000115 nl A severe loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED +en A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss HP:0032110 IAO:0000115 nl A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss NOT_TRANSLATED +en A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum HP:0033188 IAO:0000115 nl A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum NOT_TRANSLATED +en A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter HP:0032061 IAO:0000115 nl A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter NOT_TRANSLATED +en A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types HP:0030983 IAO:0000115 nl A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types NOT_TRANSLATED +en A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point HP:0007874 IAO:0000115 nl A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point NOT_TRANSLATED +en A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion HP:0030763 IAO:0000115 nl A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion NOT_TRANSLATED +en A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance HP:0003177 IAO:0000115 nl A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance NOT_TRANSLATED +en A shiny appearance of the macula, which is often called a beaten bronze appearance HP:0025147 IAO:0000115 nl A shiny appearance of the macula, which is often called a beaten bronze appearance NOT_TRANSLATED +en A short discontinuity of the margin of the lower eyelid HP:0000652 IAO:0000115 nl A short discontinuity of the margin of the lower eyelid NOT_TRANSLATED +en A short discontinuity of the margin of the lower or upper eyelid HP:0000625 IAO:0000115 nl A short discontinuity of the margin of the lower or upper eyelid NOT_TRANSLATED +en A short discontinuity of the margin of the upper eyelid HP:0000636 IAO:0000115 nl A short discontinuity of the margin of the upper eyelid NOT_TRANSLATED +en A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) HP:0011428 IAO:0000115 nl A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) NOT_TRANSLATED +en A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance HP:0011171 IAO:0000115 nl A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance NOT_TRANSLATED +en A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) HP:0011429 IAO:0000115 nl A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637) NOT_TRANSLATED +en A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally HP:0031260 IAO:0000115 nl A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally NOT_TRANSLATED +en A significant descent of the kidney as the patient moves from the supine to the erect position HP:0011126 IAO:0000115 nl A significant descent of the kidney as the patient moves from the supine to the erect position NOT_TRANSLATED +en A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract HP:0001660 IAO:0000115 nl A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract NOT_TRANSLATED +en A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors HP:0006315 IAO:0000115 nl A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors NOT_TRANSLATED +en A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris HP:0010769 IAO:0000115 nl A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris NOT_TRANSLATED +en A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales) HP:0003765 IAO:0000115 nl A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales) NOT_TRANSLATED +en A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP HP:0025081 IAO:0000115 nl A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP NOT_TRANSLATED +en A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum HP:0007502 IAO:0000115 nl A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum NOT_TRANSLATED +en A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts) HP:0001061 IAO:0000115 nl A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts) NOT_TRANSLATED +en A skin lesion with a snake- or serpent-like distribution HP:0025527 IAO:0000115 nl A skin lesion with a snake- or serpent-like distribution NOT_TRANSLATED +en A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus HP:0025526 IAO:0000115 nl A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus NOT_TRANSLATED +en A skin nodule that is unusually hard (indurated) HP:0032217 IAO:0000115 nl A skin nodule that is unusually hard (indurated) NOT_TRANSLATED +en A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear HP:0040186 IAO:0000115 nl A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear NOT_TRANSLATED +en A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough HP:0001027 IAO:0000115 nl A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough NOT_TRANSLATED +en A sloped configuration of the metaphysis (shaft) of the ulna HP:0004045 IAO:0000115 nl A sloped configuration of the metaphysis (shaft) of the ulna NOT_TRANSLATED +en A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest HP:0002305 IAO:0000115 nl A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest NOT_TRANSLATED +en A slower than normal heart rate (in adults, slower than 60 beats per minute) HP:0001662 IAO:0000115 nl A slower than normal heart rate (in adults, slower than 60 beats per minute) NOT_TRANSLATED +en A slowly growing malignant neoplasm derived from cartilage cells HP:0006765 IAO:0000115 nl A slowly growing malignant neoplasm derived from cartilage cells NOT_TRANSLATED +en A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia HP:0005558 IAO:0000115 nl A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia NOT_TRANSLATED +en A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546 HP:0031027 IAO:0000115 nl A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546 NOT_TRANSLATED +en A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs HP:0031724 IAO:0000115 nl A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs NOT_TRANSLATED +en A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion HP:0032228 IAO:0000115 nl A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion NOT_TRANSLATED +en A small break in the retina HP:0011530 IAO:0000115 nl A small break in the retina NOT_TRANSLATED +en A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed HP:0033026 IAO:0000115 nl A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed NOT_TRANSLATED +en A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells HP:0200039 IAO:0000115 nl A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells NOT_TRANSLATED +en A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color HP:0032041 IAO:0000115 nl A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color NOT_TRANSLATED +en A small hole through the whole thickness of the retina HP:0011958 IAO:0000115 nl A small hole through the whole thickness of the retina NOT_TRANSLATED +en A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs HP:0025492 IAO:0000115 nl A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs NOT_TRANSLATED +en A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent HP:0012663 IAO:0000115 nl A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent NOT_TRANSLATED +en A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus HP:0012390 IAO:0000115 nl A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus NOT_TRANSLATED +en A small, sac-like aneurysm (outpouching) of a cerebral blood vessel HP:0007029 IAO:0000115 nl A small, sac-like aneurysm (outpouching) of a cerebral blood vessel NOT_TRANSLATED +en A small, skin-lined tract that leads from the surface to deep within the tissues HP:0100276 IAO:0000115 nl A small, skin-lined tract that leads from the surface to deep within the tissues NOT_TRANSLATED +en A small/hypoplastic or absent/aplastic 2nd finger HP:0006264 IAO:0000115 nl A small/hypoplastic or absent/aplastic 2nd finger NOT_TRANSLATED +en A small/hypoplastic or absent/aplastic 3rd (middle) finger HP:0009318 IAO:0000115 nl A small/hypoplastic or absent/aplastic 3rd (middle) finger NOT_TRANSLATED +en A small/hypoplastic or absent/aplastic 4th (ring) finger HP:0009272 IAO:0000115 nl A small/hypoplastic or absent/aplastic 4th (ring) finger NOT_TRANSLATED +en A small/hypoplastic or absent/aplastic 5th finger HP:0006262 IAO:0000115 nl A small/hypoplastic or absent/aplastic 5th finger NOT_TRANSLATED +en A small/hypoplastic or absent/aplastic radius HP:0006501 IAO:0000115 nl A small/hypoplastic or absent/aplastic radius NOT_TRANSLATED +en A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain HP:0008807 IAO:0000115 nl A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain NOT_TRANSLATED +en A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma HP:0100243 IAO:0000115 nl A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma NOT_TRANSLATED +en A smooth, extratesticular, spherical cyst in the head of the epididymis HP:0030424 IAO:0000115 nl A smooth, extratesticular, spherical cyst in the head of the epididymis NOT_TRANSLATED +en A soft tissue continuity in the A/P axis between fingers 3 and 4 HP:0011939 IAO:0000115 nl A soft tissue continuity in the A/P axis between fingers 3 and 4 NOT_TRANSLATED +en A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits HP:0012725 IAO:0000115 nl A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits NOT_TRANSLATED +en A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers HP:0010554 IAO:0000115 nl A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers NOT_TRANSLATED +en A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria HP:0010621 IAO:0000115 nl A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria NOT_TRANSLATED +en A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints HP:0005650 IAO:0000115 nl A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints NOT_TRANSLATED +en A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4 HP:0005768 IAO:0000115 nl A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4 NOT_TRANSLATED +en A soft tissue prominence of the ventral aspects of the fingertips or toe tips HP:0011298 IAO:0000115 nl A soft tissue prominence of the ventral aspects of the fingertips or toe tips NOT_TRANSLATED +en A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue HP:0032007 IAO:0000115 nl A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue NOT_TRANSLATED +en A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern HP:0011754 IAO:0000115 nl A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern NOT_TRANSLATED +en A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color HP:0031360 IAO:0000115 nl A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color NOT_TRANSLATED +en A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening) HP:0031359 IAO:0000115 nl A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening) NOT_TRANSLATED +en A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood HP:0025511 IAO:0000115 nl A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood NOT_TRANSLATED +en A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus HP:0030038 IAO:0000115 nl A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus NOT_TRANSLATED +en A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise HP:0020213 IAO:0000115 nl A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise NOT_TRANSLATED +en A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe HP:0025425 IAO:0000115 nl A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe NOT_TRANSLATED +en A spasm (sudden, involuntary constriction) of the bronchioles HP:0025428 IAO:0000115 nl A spasm (sudden, involuntary constriction) of the bronchioles NOT_TRANSLATED +en A spatial pattern that is spread out, i.e., not localized HP:0020034 IAO:0000115 nl A spatial pattern that is spread out, i.e., not localized NOT_TRANSLATED +en A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices HP:0011577 IAO:0000115 nl A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices NOT_TRANSLATED +en A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices HP:0011578 IAO:0000115 nl A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices NOT_TRANSLATED +en A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices HP:0011576 IAO:0000115 nl A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices NOT_TRANSLATED +en A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid HP:0033364 IAO:0000115 nl A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid NOT_TRANSLATED +en A specific learning disability involving mathematics and arithmetic HP:0002442 IAO:0000115 nl A specific learning disability involving mathematics and arithmetic NOT_TRANSLATED +en A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation) HP:0007963 IAO:0000115 nl A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation) NOT_TRANSLATED +en A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly HP:0001339 IAO:0000115 nl A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly NOT_TRANSLATED +en A speech pattern characterized by abnormally elevated variability of the pitch of the voice HP:0031436 IAO:0000115 nl A speech pattern characterized by abnormally elevated variability of the pitch of the voice NOT_TRANSLATED +en A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice HP:0031435 IAO:0000115 nl A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice NOT_TRANSLATED +en A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus HP:0011140 IAO:0000115 nl A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus NOT_TRANSLATED +en A spinal cord hemangioma located in the lumbosacral spine region HP:0410275 IAO:0000115 nl A spinal cord hemangioma located in the lumbosacral spine region NOT_TRANSLATED +en A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular HP:0011764 IAO:0000115 nl A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular NOT_TRANSLATED +en A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip HP:0000456 IAO:0000115 nl A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip NOT_TRANSLATED +en A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak) HP:0032934 IAO:0000115 nl A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak) NOT_TRANSLATED +en A squamous cell carcinoma that originates in the anal canal HP:0030438 IAO:0000115 nl A squamous cell carcinoma that originates in the anal canal NOT_TRANSLATED +en A squamous cell carcinoma that originates in the oropharnyx HP:0012182 IAO:0000115 nl A squamous cell carcinoma that originates in the oropharnyx NOT_TRANSLATED +en A squamous cell carcinoma that originates in the skin of the anal margin HP:0030442 IAO:0000115 nl A squamous cell carcinoma that originates in the skin of the anal margin NOT_TRANSLATED +en A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states HP:0031467 IAO:0000115 nl A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states NOT_TRANSLATED +en A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure HP:0030854 IAO:0000115 nl A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure NOT_TRANSLATED +en A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body HP:0025406 IAO:0000115 nl A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body NOT_TRANSLATED +en A state of abnormally elevated or irritable mood, arousal, and or energy levels HP:0100754 IAO:0000115 nl A state of abnormally elevated or irritable mood, arousal, and or energy levels NOT_TRANSLATED +en A state of abnormally strong desire for sleep during the daytime HP:0001262 IAO:0000115 nl A state of abnormally strong desire for sleep during the daytime NOT_TRANSLATED +en A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating HP:0001254 IAO:0000115 nl A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating NOT_TRANSLATED +en A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension HP:0000713 IAO:0000115 nl A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension NOT_TRANSLATED +en A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus) HP:0000873 IAO:0000115 nl A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus) NOT_TRANSLATED +en A state of feeling very unhappy, uneasy, or dissatisfied HP:0033838 IAO:0000115 nl A state of feeling very unhappy, uneasy, or dissatisfied NOT_TRANSLATED +en A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume HP:0031218 IAO:0000115 nl A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume NOT_TRANSLATED +en A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria HP:0031943 IAO:0000115 nl A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria NOT_TRANSLATED +en A state of renal tubular unresponsiveness or resistance to the action of aldosterone HP:0008242 IAO:0000115 nl A state of renal tubular unresponsiveness or resistance to the action of aldosterone NOT_TRANSLATED +en A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation HP:0004887 IAO:0000115 nl A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation NOT_TRANSLATED +en A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures HP:0031274 IAO:0000115 nl A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures NOT_TRANSLATED +en A state of sudden and severe confusion HP:0031258 IAO:0000115 nl A state of sudden and severe confusion NOT_TRANSLATED +en A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress HP:0000711 IAO:0000115 nl A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress NOT_TRANSLATED +en A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral HP:0000733 IAO:0000115 nl A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral NOT_TRANSLATED +en A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum HP:0410277 IAO:0000115 nl A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum NOT_TRANSLATED +en A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear HP:0020123 IAO:0000115 nl A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear NOT_TRANSLATED +en A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain HP:0032325 IAO:0000115 nl A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain NOT_TRANSLATED +en A structural abnormality of B cells HP:0002846 IAO:0000115 nl A structural abnormality of B cells NOT_TRANSLATED +en A structural abnormality of a diaphysis of the arm HP:0009808 IAO:0000115 nl A structural abnormality of a diaphysis of the arm NOT_TRANSLATED +en A structural abnormality of a diaphysis of the leg HP:0012699 IAO:0000115 nl A structural abnormality of a diaphysis of the leg NOT_TRANSLATED +en A structural abnormality of a mandibular symphysis HP:3000079 IAO:0000115 nl A structural abnormality of a mandibular symphysis NOT_TRANSLATED +en A structural abnormality of a skeletal muscle HP:0011805 IAO:0000115 nl A structural abnormality of a skeletal muscle NOT_TRANSLATED +en A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal HP:3000061 IAO:0000115 nl A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal NOT_TRANSLATED +en A structural abnormality of retinal vasculature HP:0008046 IAO:0000115 nl A structural abnormality of retinal vasculature NOT_TRANSLATED +en A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax HP:0001438 IAO:0000115 nl A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax NOT_TRANSLATED +en A structural abnormality of the autonomic nervous system HP:0012331 IAO:0000115 nl A structural abnormality of the autonomic nervous system NOT_TRANSLATED +en A structural abnormality of the biliary tree HP:0012440 IAO:0000115 nl A structural abnormality of the biliary tree NOT_TRANSLATED +en A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain HP:0012443 IAO:0000115 nl A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain NOT_TRANSLATED +en A structural abnormality of the central nervous system HP:0002011 IAO:0000115 nl A structural abnormality of the central nervous system NOT_TRANSLATED +en A structural abnormality of the columella HP:0009929 IAO:0000115 nl A structural abnormality of the columella NOT_TRANSLATED +en A structural abnormality of the esophagus HP:0002031 IAO:0000115 nl A structural abnormality of the esophagus NOT_TRANSLATED +en A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes HP:0010948 IAO:0000115 nl A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED +en A structural abnormality of the interventricular septum HP:0010438 IAO:0000115 nl A structural abnormality of the interventricular septum NOT_TRANSLATED +en A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina HP:0001103 IAO:0000115 nl A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina NOT_TRANSLATED +en A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles HP:0002518 IAO:0000115 nl A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles NOT_TRANSLATED +en A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves HP:0025163 IAO:0000115 nl A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves NOT_TRANSLATED +en A structural abnormality of the parathyroid gland HP:0011766 IAO:0000115 nl A structural abnormality of the parathyroid gland NOT_TRANSLATED +en A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen HP:0031934 IAO:0000115 nl A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen NOT_TRANSLATED +en A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system) HP:0000759 IAO:0000115 nl A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system) NOT_TRANSLATED +en A structural abnormality of the pineal gland HP:0012681 IAO:0000115 nl A structural abnormality of the pineal gland NOT_TRANSLATED +en A structural abnormality of the pons HP:0007361 IAO:0000115 nl A structural abnormality of the pons NOT_TRANSLATED +en A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli HP:0033137 IAO:0000115 nl A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli NOT_TRANSLATED +en A structural abnormality of the retina HP:0000479 IAO:0000115 nl A structural abnormality of the retina NOT_TRANSLATED +en A structural abnormality of the retinal nerve fiber layer HP:0020119 IAO:0000115 nl A structural abnormality of the retinal nerve fiber layer NOT_TRANSLATED +en A structural abnormality of the sperm head HP:0012865 IAO:0000115 nl A structural abnormality of the sperm head NOT_TRANSLATED +en A structural abnormality of the sperm mid-piece HP:0012867 IAO:0000115 nl A structural abnormality of the sperm mid-piece NOT_TRANSLATED +en A structural abnormality of the sperm neck HP:0012866 IAO:0000115 nl A structural abnormality of the sperm neck NOT_TRANSLATED +en A structural abnormality of the sperm tail HP:0012868 IAO:0000115 nl A structural abnormality of the sperm tail NOT_TRANSLATED +en A structural abnormality of the thyroid gland HP:0011772 IAO:0000115 nl A structural abnormality of the thyroid gland NOT_TRANSLATED +en A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder HP:0025633 IAO:0000115 nl A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder NOT_TRANSLATED +en A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta HP:0030962 IAO:0000115 nl A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta NOT_TRANSLATED +en A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes HP:0025667 IAO:0000115 nl A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED +en A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells HP:0030334 IAO:0000115 nl A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells NOT_TRANSLATED +en A structural anomaly of a male reproductive cell HP:0012863 IAO:0000115 nl A structural anomaly of a male reproductive cell NOT_TRANSLATED +en A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions HP:0012757 IAO:0000115 nl A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions NOT_TRANSLATED +en A structural anomaly of a synovial bursa HP:0025231 IAO:0000115 nl A structural anomaly of a synovial bursa NOT_TRANSLATED +en A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids HP:0031340 IAO:0000115 nl A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids NOT_TRANSLATED +en A structural anomaly of nerves of the enteric nervous system HP:0025028 IAO:0000115 nl A structural anomaly of nerves of the enteric nervous system NOT_TRANSLATED +en A structural anomaly of one or more phalanges of the thumb HP:0009602 IAO:0000115 nl A structural anomaly of one or more phalanges of the thumb NOT_TRANSLATED +en A structural anomaly of sperm HP:0012864 IAO:0000115 nl A structural anomaly of sperm NOT_TRANSLATED +en A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders HP:0040115 IAO:0000115 nl A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders NOT_TRANSLATED +en A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva HP:0030669 IAO:0000115 nl A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva NOT_TRANSLATED +en A structural anomaly of the amygdala HP:0033668 IAO:0000115 nl A structural anomaly of the amygdala NOT_TRANSLATED +en A structural anomaly of the capillary blood vessels in the renal glomerulus HP:0025006 IAO:0000115 nl A structural anomaly of the capillary blood vessels in the renal glomerulus NOT_TRANSLATED +en A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve HP:0025523 IAO:0000115 nl A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve NOT_TRANSLATED +en A structural anomaly of the ciliary body HP:0012776 IAO:0000115 nl A structural anomaly of the ciliary body NOT_TRANSLATED +en A structural anomaly of the corpus cavernosum, the erectile tissue of the penis HP:0100623 IAO:0000115 nl A structural anomaly of the corpus cavernosum, the erectile tissue of the penis NOT_TRANSLATED +en A structural anomaly of the digestive system HP:0025033 IAO:0000115 nl A structural anomaly of the digestive system NOT_TRANSLATED +en A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule HP:0031264 IAO:0000115 nl A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule NOT_TRANSLATED +en A structural anomaly of the first metacarpal HP:0010009 IAO:0000115 nl A structural anomaly of the first metacarpal NOT_TRANSLATED +en A structural anomaly of the gallbladder HP:0012437 IAO:0000115 nl A structural anomaly of the gallbladder NOT_TRANSLATED +en A structural anomaly of the globe of the eye, or bulbus oculi HP:0012372 IAO:0000115 nl A structural anomaly of the globe of the eye, or bulbus oculi NOT_TRANSLATED +en A structural anomaly of the glomerulus HP:0000095 IAO:0000115 nl A structural anomaly of the glomerulus NOT_TRANSLATED +en A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone) HP:0025368 IAO:0000115 nl A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone) NOT_TRANSLATED +en A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus HP:3000053 IAO:0000115 nl A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus NOT_TRANSLATED +en A structural anomaly of the inferior portion of the vermis of cerebellum HP:0012460 IAO:0000115 nl A structural anomaly of the inferior portion of the vermis of cerebellum NOT_TRANSLATED +en A structural anomaly of the internal part of the ear HP:0011390 IAO:0000115 nl A structural anomaly of the internal part of the ear NOT_TRANSLATED +en A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla HP:0030791 IAO:0000115 nl A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla NOT_TRANSLATED +en A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells HP:0030146 IAO:0000115 nl A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells NOT_TRANSLATED +en A structural anomaly of the mucous lining of the large intestine HP:0025090 IAO:0000115 nl A structural anomaly of the mucous lining of the large intestine NOT_TRANSLATED +en A structural anomaly of the mucous lining of the small intestine HP:0025129 IAO:0000115 nl A structural anomaly of the mucous lining of the small intestine NOT_TRANSLATED +en A structural anomaly of the muscle layer of the heart wall HP:0001637 IAO:0000115 nl A structural anomaly of the muscle layer of the heart wall NOT_TRANSLATED +en A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle HP:0031316 IAO:0000115 nl A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle NOT_TRANSLATED +en A structural anomaly of the muscles of the trunk and head HP:0040286 IAO:0000115 nl A structural anomaly of the muscles of the trunk and head NOT_TRANSLATED +en A structural anomaly of the nasopharynx HP:0001739 IAO:0000115 nl A structural anomaly of the nasopharynx NOT_TRANSLATED +en A structural anomaly of the nephron HP:0012575 IAO:0000115 nl A structural anomaly of the nephron NOT_TRANSLATED +en A structural anomaly of the nervous system HP:0012639 IAO:0000115 nl A structural anomaly of the nervous system NOT_TRANSLATED +en A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine HP:0030935 IAO:0000115 nl A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine NOT_TRANSLATED +en A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell HP:0025057 IAO:0000115 nl A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell NOT_TRANSLATED +en A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece HP:0033523 IAO:0000115 nl A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece NOT_TRANSLATED +en A structural anomaly of the pharynx HP:0033151 IAO:0000115 nl A structural anomaly of the pharynx NOT_TRANSLATED +en A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla HP:0025361 IAO:0000115 nl A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla NOT_TRANSLATED +en A structural anomaly of the respiratory system HP:0012252 IAO:0000115 nl A structural anomaly of the respiratory system NOT_TRANSLATED +en A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct HP:0012872 IAO:0000115 nl A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct NOT_TRANSLATED +en A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry HP:0045007 IAO:0000115 nl A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry NOT_TRANSLATED +en A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues HP:0025016 IAO:0000115 nl A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues NOT_TRANSLATED +en A structural anomaly of the trachea HP:0002778 IAO:0000115 nl A structural anomaly of the trachea NOT_TRANSLATED +en A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration HP:0012260 IAO:0000115 nl A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration NOT_TRANSLATED +en A structural anomaly of the vessel that contains or conveys lymph fluid HP:0100766 IAO:0000115 nl A structural anomaly of the vessel that contains or conveys lymph fluid NOT_TRANSLATED +en A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products HP:0031465 IAO:0000115 nl A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products NOT_TRANSLATED +en A structural defect associated with abnormal development of the lung HP:4000059 IAO:0000115 nl A structural defect associated with abnormal development of the lung NOT_TRANSLATED +en A structural lymph node abnormality HP:0002733 IAO:0000115 nl A structural lymph node abnormality NOT_TRANSLATED +en A structural or developmental anomaly of any of the tissues involved in the genital system HP:0012243 IAO:0000115 nl A structural or developmental anomaly of any of the tissues involved in the genital system NOT_TRANSLATED +en A structuraly anomaly of T cells that express an alpha-beta T cell receptor HP:0030333 IAO:0000115 nl A structuraly anomaly of T cells that express an alpha-beta T cell receptor NOT_TRANSLATED +en A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations HP:0033727 IAO:0000115 nl A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations NOT_TRANSLATED +en A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations HP:0033731 IAO:0000115 nl A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations NOT_TRANSLATED +en A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity HP:0033732 IAO:0000115 nl A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity NOT_TRANSLATED +en A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence HP:0033729 IAO:0000115 nl A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence NOT_TRANSLATED +en A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy HP:0033728 IAO:0000115 nl A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy NOT_TRANSLATED +en A subjective feeling of tiredness characterized by a lack of energy and motivation HP:0012378 IAO:0000115 nl A subjective feeling of tiredness characterized by a lack of energy and motivation NOT_TRANSLATED +en A subjective feeling that an experience which has occurred before is being experienced for the first time HP:0012006 IAO:0000115 nl A subjective feeling that an experience which has occurred before is being experienced for the first time NOT_TRANSLATED +en A subjective feeling that an experience which is occurring for the first time has been experienced before HP:0012005 IAO:0000115 nl A subjective feeling that an experience which is occurring for the first time has been experienced before NOT_TRANSLATED +en A subjective manifestation of disease localized to the abdomen HP:0011458 IAO:0000115 nl A subjective manifestation of disease localized to the abdomen NOT_TRANSLATED +en A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation HP:0020199 IAO:0000115 nl A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation NOT_TRANSLATED +en A subretinal scar with a disc-like shape in the region of the macula HP:0025094 IAO:0000115 nl A subretinal scar with a disc-like shape in the region of the macula NOT_TRANSLATED +en A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity HP:0004848 IAO:0000115 nl A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity NOT_TRANSLATED +en A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue HP:0040201 IAO:0000115 nl A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue NOT_TRANSLATED +en A subtle unilateral cleft of the upper lip, which may appear as a small indentation HP:0011340 IAO:0000115 nl A subtle unilateral cleft of the upper lip, which may appear as a small indentation NOT_TRANSLATED +en A subtype of colorectal carcinoma with mucin lakes HP:0031497 IAO:0000115 nl A subtype of colorectal carcinoma with mucin lakes NOT_TRANSLATED +en A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium HP:0012142 IAO:0000115 nl A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium NOT_TRANSLATED +en A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination HP:0032050 IAO:0000115 nl A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination NOT_TRANSLATED +en A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination HP:0032048 IAO:0000115 nl A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination NOT_TRANSLATED +en A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination HP:0032049 IAO:0000115 nl A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination NOT_TRANSLATED +en A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells HP:0032053 IAO:0000115 nl A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells NOT_TRANSLATED +en A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins HP:0032052 IAO:0000115 nl A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins NOT_TRANSLATED +en A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis) HP:0032057 IAO:0000115 nl A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis) NOT_TRANSLATED +en A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) HP:0032055 IAO:0000115 nl A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis) NOT_TRANSLATED +en A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor HP:0032056 IAO:0000115 nl A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor NOT_TRANSLATED +en A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections HP:0032058 IAO:0000115 nl A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections NOT_TRANSLATED +en A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina HP:0031805 IAO:0000115 nl A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina NOT_TRANSLATED +en A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging HP:0012059 IAO:0000115 nl A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging NOT_TRANSLATED +en A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron HP:0006770 IAO:0000115 nl A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron NOT_TRANSLATED +en A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery HP:0007947 IAO:0000115 nl A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery NOT_TRANSLATED +en A subtype of skin dimples occurring in the shoulder region HP:0010782 IAO:0000115 nl A subtype of skin dimples occurring in the shoulder region NOT_TRANSLATED +en A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions HP:0002524 IAO:0000115 nl A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions NOT_TRANSLATED +en A sudden attack of dyspnea that occurs while the affected person is at rest HP:0012763 IAO:0000115 nl A sudden attack of dyspnea that occurs while the affected person is at rest NOT_TRANSLATED +en A sudden episode of intense fear in a situation in which there is no danger or apparent cause HP:0025269 IAO:0000115 nl A sudden episode of intense fear in a situation in which there is no danger or apparent cause NOT_TRANSLATED +en A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx HP:0030249 IAO:0000115 nl A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx NOT_TRANSLATED +en A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages HP:0011097 IAO:0000115 nl A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages NOT_TRANSLATED +en A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters HP:0032833 IAO:0000115 nl A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters NOT_TRANSLATED +en A sudden involuntary contraction of the musculature surrounding the mouth HP:0031989 IAO:0000115 nl A sudden involuntary contraction of the musculature surrounding the mouth NOT_TRANSLATED +en A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction HP:0033400 IAO:0000115 nl A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction NOT_TRANSLATED +en A sudden sensation of feeling cold HP:0025143 IAO:0000115 nl A sudden sensation of feeling cold NOT_TRANSLATED +en A sudden violent, spasmodic, audible expiration of breath through the nose and mouth HP:0025095 IAO:0000115 nl A sudden violent, spasmodic, audible expiration of breath through the nose and mouth NOT_TRANSLATED +en A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation HP:0012735 IAO:0000115 nl A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation NOT_TRANSLATED +en A sudden, irresistible need to have a bowel movement HP:0012701 IAO:0000115 nl A sudden, irresistible need to have a bowel movement NOT_TRANSLATED +en A supernumerary tooth in the midline between the maxillary central incisors HP:0011067 IAO:0000115 nl A supernumerary tooth in the midline between the maxillary central incisors NOT_TRANSLATED +en A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal HP:0007817 IAO:0000115 nl A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal NOT_TRANSLATED +en A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal HP:0000605 IAO:0000115 nl A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal NOT_TRANSLATED +en A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal HP:0000511 IAO:0000115 nl A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal NOT_TRANSLATED +en A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke HP:0006150 IAO:0000115 nl A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke NOT_TRANSLATED +en A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly HP:0030754 IAO:0000115 nl A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly NOT_TRANSLATED +en A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system HP:0006873 IAO:0000115 nl A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED +en A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system HP:0007262 IAO:0000115 nl A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system NOT_TRANSLATED +en A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual HP:0025142 IAO:0000115 nl A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual NOT_TRANSLATED +en A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes HP:0001466 IAO:0000115 nl A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes NOT_TRANSLATED +en A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV) HP:0100726 IAO:0000115 nl A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV) NOT_TRANSLATED +en A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern HP:0031665 IAO:0000115 nl A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern NOT_TRANSLATED +en A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms) HP:0004756 IAO:0000115 nl A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms) NOT_TRANSLATED +en A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim HP:0001519 IAO:0000115 nl A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim NOT_TRANSLATED +en A tan, regularly bordered patch with darker macules within the lesion HP:0025510 IAO:0000115 nl A tan, regularly bordered patch with darker macules within the lesion NOT_TRANSLATED +en A tear in the cartilaginous pad (meniscus) of the knee HP:0032191 IAO:0000115 nl A tear in the cartilaginous pad (meniscus) of the knee NOT_TRANSLATED +en A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers HP:0033311 IAO:0000115 nl A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers NOT_TRANSLATED +en A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual HP:0025160 IAO:0000115 nl A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation HP:0033024 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation HP:0033017 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood HP:0033021 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood HP:0032133 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation HP:0041067 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation HP:0041062 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation HP:0041071 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation NOT_TRANSLATED +en A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation HP:0041057 IAO:0000115 nl A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation NOT_TRANSLATED +en A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma HP:0025124 IAO:0000115 nl A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma NOT_TRANSLATED +en A tendency or compulsion to examine objects by mouth HP:0000710 IAO:0000115 nl A tendency or compulsion to examine objects by mouth NOT_TRANSLATED +en A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps HP:0002172 IAO:0000115 nl A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps NOT_TRANSLATED +en A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement HP:0031706 IAO:0000115 nl A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement NOT_TRANSLATED +en A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement HP:0001477 IAO:0000115 nl A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement NOT_TRANSLATED +en A tendency to sleep less hours than usual while feeling well rested HP:0033063 IAO:0000115 nl A tendency to sleep less hours than usual while feeling well rested NOT_TRANSLATED +en A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement HP:0031710 IAO:0000115 nl A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement NOT_TRANSLATED +en A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement HP:0031709 IAO:0000115 nl A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement NOT_TRANSLATED +en A tendency to turn the face to the left to compensate for a limitation of eye movement HP:0031708 IAO:0000115 nl A tendency to turn the face to the left to compensate for a limitation of eye movement NOT_TRANSLATED +en A tendency to turn the face to the right to compensate for a limitation of eye movement HP:0031707 IAO:0000115 nl A tendency to turn the face to the right to compensate for a limitation of eye movement NOT_TRANSLATED +en A tendency towards rising very early in the morning and going to bed early in the evening HP:0031873 IAO:0000115 nl A tendency towards rising very early in the morning and going to bed early in the evening NOT_TRANSLATED +en A tendency towards rising very late in the morning and going to bed late at night HP:0031874 IAO:0000115 nl A tendency towards rising very late in the morning and going to bed late at night NOT_TRANSLATED +en A teratoma arising in the nasopharyngeal region HP:0031227 IAO:0000115 nl A teratoma arising in the nasopharyngeal region NOT_TRANSLATED +en A teratoma arising in the sacro-coccygeal region HP:0030736 IAO:0000115 nl A teratoma arising in the sacro-coccygeal region NOT_TRANSLATED +en A teratoma located in the craniofacial region HP:0030755 IAO:0000115 nl A teratoma located in the craniofacial region NOT_TRANSLATED +en A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs) HP:0030741 IAO:0000115 nl A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs) NOT_TRANSLATED +en A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone HP:0011674 IAO:0000115 nl A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone NOT_TRANSLATED +en A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye HP:0500042 IAO:0000115 nl A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye NOT_TRANSLATED +en A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia HP:0032497 IAO:0000115 nl A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia NOT_TRANSLATED +en A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex HP:0012646 IAO:0000115 nl A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex NOT_TRANSLATED +en A thickened white patch on the oral mucosa that cannot be rubbed off HP:0002745 IAO:0000115 nl A thickened white patch on the oral mucosa that cannot be rubbed off NOT_TRANSLATED +en A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome HP:0000474 IAO:0000115 nl A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome NOT_TRANSLATED +en A thickening of the stratum corneum in the region beneath the nails HP:0008392 IAO:0000115 nl A thickening of the stratum corneum in the region beneath the nails NOT_TRANSLATED +en A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails HP:0008399 IAO:0000115 nl A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails NOT_TRANSLATED +en A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers HP:0032084 IAO:0000115 nl A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers NOT_TRANSLATED +en A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009441 IAO:0000115 nl A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations HP:0033790 IAO:0000115 nl A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations NOT_TRANSLATED +en A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease HP:0005575 IAO:0000115 nl A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease NOT_TRANSLATED +en A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart HP:0033138 IAO:0000115 nl A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart NOT_TRANSLATED +en A thrusting or bulging out of the abdomen HP:0001538 IAO:0000115 nl A thrusting or bulging out of the abdomen NOT_TRANSLATED +en A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb HP:0001199 IAO:0000115 nl A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb NOT_TRANSLATED +en A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail HP:0012553 IAO:0000115 nl A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail NOT_TRANSLATED +en A toe that appears disproportionately short compared to the foot HP:0001831 IAO:0000115 nl A toe that appears disproportionately short compared to the foot NOT_TRANSLATED +en A tongue-like protusion from the anterior aspect of lumbar vertebral bodies HP:0005680 IAO:0000115 nl A tongue-like protusion from the anterior aspect of lumbar vertebral bodies NOT_TRANSLATED +en A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening HP:0032792 IAO:0000115 nl A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening NOT_TRANSLATED +en A tooth abscess that occurs at the tip of the root (apex) of a tooth HP:0030758 IAO:0000115 nl A tooth abscess that occurs at the tip of the root (apex) of a tooth NOT_TRANSLATED +en A tooth crown with a marked cervical area constriction HP:0033780 IAO:0000115 nl A tooth crown with a marked cervical area constriction NOT_TRANSLATED +en A tooth crown with convex mesial and distal surfaces HP:0033779 IAO:0000115 nl A tooth crown with convex mesial and distal surfaces NOT_TRANSLATED +en A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter HP:0006342 IAO:0000115 nl A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter NOT_TRANSLATED +en A tooth present at birth or erupting within the first month of life HP:0000695 IAO:0000115 nl A tooth present at birth or erupting within the first month of life NOT_TRANSLATED +en A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth) HP:0011079 IAO:0000115 nl A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth) NOT_TRANSLATED +en A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential HP:0000706 IAO:0000115 nl A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential NOT_TRANSLATED +en A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors HP:0033781 IAO:0000115 nl A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors NOT_TRANSLATED +en A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces HP:0006358 IAO:0000115 nl A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces NOT_TRANSLATED +en A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common HP:0032270 IAO:0000115 nl A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common NOT_TRANSLATED +en A transient reduction in the number of erythroblasts in the circulation HP:0005510 IAO:0000115 nl A transient reduction in the number of erythroblasts in the circulation NOT_TRANSLATED +en A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity HP:0410255 IAO:0000115 nl A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity NOT_TRANSLATED +en A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition HP:0100576 IAO:0000115 nl A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition NOT_TRANSLATED +en A transverse linear fissure (crease) in the lobule of the ear HP:0031510 IAO:0000115 nl A transverse linear fissure (crease) in the lobule of the ear NOT_TRANSLATED +en A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement HP:0002345 IAO:0000115 nl A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement NOT_TRANSLATED +en A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures HP:0033054 IAO:0000115 nl A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures NOT_TRANSLATED +en A triangular appearance of the epiphyses of the 2nd finger of the hand HP:0009498 IAO:0000115 nl A triangular appearance of the epiphyses of the 2nd finger of the hand NOT_TRANSLATED +en A triangular appearance of the epiphyses of the 3rd finger of the hand HP:0009420 IAO:0000115 nl A triangular appearance of the epiphyses of the 3rd finger of the hand NOT_TRANSLATED +en A triangular appearance of the epiphyses of the 4th finger of the hand HP:0009403 IAO:0000115 nl A triangular appearance of the epiphyses of the 4th finger of the hand NOT_TRANSLATED +en A triangular appearance of the epiphyses of the 5th finger of the hand HP:0009392 IAO:0000115 nl A triangular appearance of the epiphyses of the 5th finger of the hand NOT_TRANSLATED +en A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals HP:0009171 IAO:0000115 nl A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals NOT_TRANSLATED +en A triangular appearance of the epiphyses of the phalanges of the fingers of the hand HP:0010238 IAO:0000115 nl A triangular appearance of the epiphyses of the phalanges of the fingers of the hand NOT_TRANSLATED +en A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009512 IAO:0000115 nl A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009345 IAO:0000115 nl A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009149 IAO:0000115 nl A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009260 IAO:0000115 nl A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009685 IAO:0000115 nl A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009331 IAO:0000115 nl A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009213 IAO:0000115 nl A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009224 IAO:0000115 nl A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009356 IAO:0000115 nl A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009154 IAO:0000115 nl A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat HP:0009271 IAO:0000115 nl A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat NOT_TRANSLATED +en A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009674 IAO:0000115 nl A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en A triangular depigmented region of white hairs located in the anterior midline of the scalp HP:0002211 IAO:0000115 nl A triangular depigmented region of white hairs located in the anterior midline of the scalp NOT_TRANSLATED +en A tricuspid valve that has failed to open HP:0011575 IAO:0000115 nl A tricuspid valve that has failed to open NOT_TRANSLATED +en A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation HP:0025204 IAO:0000115 nl A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation NOT_TRANSLATED +en A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease HP:0034493 IAO:0000115 nl A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of a gonad HP:0010785 IAO:0000115 nl A tumor (abnormal growth of tissue) of a gonad NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of a salivary gland HP:0100684 IAO:0000115 nl A tumor (abnormal growth of tissue) of a salivary gland NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of adipose tissue HP:0200013 IAO:0000115 nl A tumor (abnormal growth of tissue) of adipose tissue NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland HP:0011750 IAO:0000115 nl A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the adrenal gland HP:0100631 IAO:0000115 nl A tumor (abnormal growth of tissue) of the adrenal gland NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the biliary system HP:0100574 IAO:0000115 nl A tumor (abnormal growth of tissue) of the biliary system NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the breast HP:0100013 IAO:0000115 nl A tumor (abnormal growth of tissue) of the breast NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the ceruminal gland HP:0040097 IAO:0000115 nl A tumor (abnormal growth of tissue) of the ceruminal gland NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the ear HP:0012780 IAO:0000115 nl A tumor (abnormal growth of tissue) of the ear NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the endocrine system HP:0100568 IAO:0000115 nl A tumor (abnormal growth of tissue) of the endocrine system NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens HP:0030421 IAO:0000115 nl A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the esophagus HP:0100751 IAO:0000115 nl A tumor (abnormal growth of tissue) of the esophagus NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the eye HP:0100012 IAO:0000115 nl A tumor (abnormal growth of tissue) of the eye NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the face HP:0012289 IAO:0000115 nl A tumor (abnormal growth of tissue) of the face NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the female external genital tract (vulva) HP:0030416 IAO:0000115 nl A tumor (abnormal growth of tissue) of the female external genital tract (vulva) NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the gastrointestinal tract HP:0007378 IAO:0000115 nl A tumor (abnormal growth of tissue) of the gastrointestinal tract NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the genital system HP:0010787 IAO:0000115 nl A tumor (abnormal growth of tissue) of the genital system NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the genitourinary system HP:0007379 IAO:0000115 nl A tumor (abnormal growth of tissue) of the genitourinary system NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx HP:0012288 IAO:0000115 nl A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the heart HP:0100544 IAO:0000115 nl A tumor (abnormal growth of tissue) of the heart NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the inner ear HP:0040096 IAO:0000115 nl A tumor (abnormal growth of tissue) of the inner ear NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the lip HP:0100604 IAO:0000115 nl A tumor (abnormal growth of tissue) of the lip NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the liver HP:0002896 IAO:0000115 nl A tumor (abnormal growth of tissue) of the liver NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the male external genitalia HP:0100848 IAO:0000115 nl A tumor (abnormal growth of tissue) of the male external genitalia NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the middle ear HP:0100799 IAO:0000115 nl A tumor (abnormal growth of tissue) of the middle ear NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the nail HP:0100826 IAO:0000115 nl A tumor (abnormal growth of tissue) of the nail NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the nervous system HP:0004375 IAO:0000115 nl A tumor (abnormal growth of tissue) of the nervous system NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the oral cavity HP:0100649 IAO:0000115 nl A tumor (abnormal growth of tissue) of the oral cavity NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the outer ear HP:0040095 IAO:0000115 nl A tumor (abnormal growth of tissue) of the outer ear NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the ovary HP:0100615 IAO:0000115 nl A tumor (abnormal growth of tissue) of the ovary NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the pancreas HP:0002894 IAO:0000115 nl A tumor (abnormal growth of tissue) of the pancreas NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the parathyroid gland HP:0100733 IAO:0000115 nl A tumor (abnormal growth of tissue) of the parathyroid gland NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the penis HP:0100850 IAO:0000115 nl A tumor (abnormal growth of tissue) of the penis NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the respiratory system HP:0100606 IAO:0000115 nl A tumor (abnormal growth of tissue) of the respiratory system NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the retina HP:0012777 IAO:0000115 nl A tumor (abnormal growth of tissue) of the retina NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the scrotum HP:0100849 IAO:0000115 nl A tumor (abnormal growth of tissue) of the scrotum NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the skeleton HP:0010622 IAO:0000115 nl A tumor (abnormal growth of tissue) of the skeleton NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the skin HP:0008069 IAO:0000115 nl A tumor (abnormal growth of tissue) of the skin NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the stomach HP:0006753 IAO:0000115 nl A tumor (abnormal growth of tissue) of the stomach NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the thymus HP:0100521 IAO:0000115 nl A tumor (abnormal growth of tissue) of the thymus NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the thyroid gland HP:0100031 IAO:0000115 nl A tumor (abnormal growth of tissue) of the thyroid gland NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the tongue HP:0100648 IAO:0000115 nl A tumor (abnormal growth of tissue) of the tongue NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the uterine cervix HP:0032241 IAO:0000115 nl A tumor (abnormal growth of tissue) of the uterine cervix NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the uterus HP:0010784 IAO:0000115 nl A tumor (abnormal growth of tissue) of the uterus NOT_TRANSLATED +en A tumor (abnormal growth of tissue) of the vagina HP:0100650 IAO:0000115 nl A tumor (abnormal growth of tissue) of the vagina NOT_TRANSLATED +en A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms HP:0031459 IAO:0000115 nl A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms NOT_TRANSLATED +en A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation HP:0012174 IAO:0000115 nl A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation NOT_TRANSLATED +en A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin HP:0100570 IAO:0000115 nl A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin NOT_TRANSLATED +en A tumor made up of nerve cells and nerve fibers HP:0030430 IAO:0000115 nl A tumor made up of nerve cells and nerve fibers NOT_TRANSLATED +en A tumor of the anal margin HP:0030440 IAO:0000115 nl A tumor of the anal margin NOT_TRANSLATED +en A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy HP:0025171 IAO:0000115 nl A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy NOT_TRANSLATED +en A tumor of the eye originating from cells of the retina HP:0009919 IAO:0000115 nl A tumor of the eye originating from cells of the retina NOT_TRANSLATED +en A tumor of the skin or mucous membrane with finger-like projections HP:0012740 IAO:0000115 nl A tumor of the skin or mucous membrane with finger-like projections NOT_TRANSLATED +en A tumor of the uterine cervix HP:0030079 IAO:0000115 nl A tumor of the uterine cervix NOT_TRANSLATED +en A tumor originating from the epithelial cells of the thymus HP:0100522 IAO:0000115 nl A tumor originating from the epithelial cells of the thymus NOT_TRANSLATED +en A tumor originating in a bronchus HP:0030077 IAO:0000115 nl A tumor originating in a bronchus NOT_TRANSLATED +en A tumor originating in the jaw (mandible or maxilla) HP:0030792 IAO:0000115 nl A tumor originating in the jaw (mandible or maxilla) NOT_TRANSLATED +en A tumor that arises from a gland cell HP:0031493 IAO:0000115 nl A tumor that arises from a gland cell NOT_TRANSLATED +en A tumor that arises from an element of the autonomic nervous system HP:0030450 IAO:0000115 nl A tumor that arises from an element of the autonomic nervous system NOT_TRANSLATED +en A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve HP:0002886 IAO:0000115 nl A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve NOT_TRANSLATED +en A tumor that originates from a neuroendocrine cell HP:0100634 IAO:0000115 nl A tumor that originates from a neuroendocrine cell NOT_TRANSLATED +en A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation HP:0030065 IAO:0000115 nl A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation NOT_TRANSLATED +en A tumor that originates in the paranasal sinus HP:0030072 IAO:0000115 nl A tumor that originates in the paranasal sinus NOT_TRANSLATED +en A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns HP:0100836 IAO:0000115 nl A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns NOT_TRANSLATED +en A turning outward of the lip or lips, that is, eversion of the lips HP:0012472 IAO:0000115 nl A turning outward of the lip or lips, that is, eversion of the lips NOT_TRANSLATED +en A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation HP:0012884 IAO:0000115 nl A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation NOT_TRANSLATED +en A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification HP:0008127 IAO:0000115 nl A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification NOT_TRANSLATED +en A two-sided form of atrophy of the kidney HP:0012586 IAO:0000115 nl A two-sided form of atrophy of the kidney NOT_TRANSLATED +en A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood HP:0004812 IAO:0000115 nl A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood NOT_TRANSLATED +en A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele HP:0025660 IAO:0000115 nl A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele NOT_TRANSLATED +en A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele HP:0025661 IAO:0000115 nl A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele NOT_TRANSLATED +en A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens HP:0010696 IAO:0000115 nl A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens NOT_TRANSLATED +en A type of Developmental delay characterized by a delay in acquiring motor skills HP:0001270 IAO:0000115 nl A type of Developmental delay characterized by a delay in acquiring motor skills NOT_TRANSLATED +en A type of Horner syndrome with congenital onset HP:0006837 IAO:0000115 nl A type of Horner syndrome with congenital onset NOT_TRANSLATED +en A type of Macrodactyly affecting one or several fingers HP:0100746 IAO:0000115 nl A type of Macrodactyly affecting one or several fingers NOT_TRANSLATED +en A type of Macrodactyly affecting one or several toes HP:0100747 IAO:0000115 nl A type of Macrodactyly affecting one or several toes NOT_TRANSLATED +en A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other HP:0025703 IAO:0000115 nl A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other NOT_TRANSLATED +en A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter HP:0025704 IAO:0000115 nl A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter NOT_TRANSLATED +en A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging HP:0025702 IAO:0000115 nl A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging NOT_TRANSLATED +en A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas HP:0005517 IAO:0000115 nl A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas NOT_TRANSLATED +en A type of T-cell lymphoma that exhibits malignant infiltration of the skin HP:0012192 IAO:0000115 nl A type of T-cell lymphoma that exhibits malignant infiltration of the skin NOT_TRANSLATED +en A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei HP:0012193 IAO:0000115 nl A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei NOT_TRANSLATED +en A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity HP:0032155 IAO:0000115 nl A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity NOT_TRANSLATED +en A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity HP:0011848 IAO:0000115 nl A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity NOT_TRANSLATED +en A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car HP:4000069 IAO:0000115 nl A type of abnormal interest characterized by a persistent and intense focus in parts of a toy/object. For examples, affected individuals may spin the wheels on a toy car rather than driving the toy car NOT_TRANSLATED +en A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front) HP:0000358 IAO:0000115 nl A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front) NOT_TRANSLATED +en A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented HP:0031201 IAO:0000115 nl A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented NOT_TRANSLATED +en A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented HP:0032593 IAO:0000115 nl A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented NOT_TRANSLATED +en A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On HE (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green) HP:0032624 IAO:0000115 nl A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On HE (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green) NOT_TRANSLATED +en A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On HE (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A HP:0032631 IAO:0000115 nl A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On HE (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A NOT_TRANSLATED +en A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends HP:0032633 IAO:0000115 nl A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends NOT_TRANSLATED +en A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends HP:0031200 IAO:0000115 nl A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends NOT_TRANSLATED +en A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses HP:0031203 IAO:0000115 nl A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses NOT_TRANSLATED +en A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts HP:0031202 IAO:0000115 nl A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts NOT_TRANSLATED +en A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules HP:0040137 IAO:0000115 nl A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules NOT_TRANSLATED +en A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias HP:0005531 IAO:0000115 nl A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias NOT_TRANSLATED +en A type of acute myeloid leukemia in which abnormal promyelocytes predominate HP:0004836 IAO:0000115 nl A type of acute myeloid leukemia in which abnormal promyelocytes predominate NOT_TRANSLATED +en A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic HP:0033697 IAO:0000115 nl A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic NOT_TRANSLATED +en A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm HP:0031522 IAO:0000115 nl A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm NOT_TRANSLATED +en A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm HP:0031521 IAO:0000115 nl A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm NOT_TRANSLATED +en A type of adrenal hyperplasia with congenital onset HP:0008258 IAO:0000115 nl A type of adrenal hyperplasia with congenital onset NOT_TRANSLATED +en A type of adrenal hypoplasia with congenital onset HP:0008244 IAO:0000115 nl A type of adrenal hypoplasia with congenital onset NOT_TRANSLATED +en A type of adult onset with onset of symptoms after the age of 60 years HP:0003584 IAO:0000115 nl A type of adult onset with onset of symptoms after the age of 60 years NOT_TRANSLATED +en A type of adult onset with onset of symptoms at the age of 40 to 60 years HP:0003596 IAO:0000115 nl A type of adult onset with onset of symptoms at the age of 40 to 60 years NOT_TRANSLATED +en A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon HP:0011286 IAO:0000115 nl A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon NOT_TRANSLATED +en A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid HP:0011284 IAO:0000115 nl A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid NOT_TRANSLATED +en A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid HP:0011285 IAO:0000115 nl A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid NOT_TRANSLATED +en A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule HP:0011144 IAO:0000115 nl A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule NOT_TRANSLATED +en A type of age-related cataract that primarily affects the cortex of the lens HP:0011143 IAO:0000115 nl A type of age-related cataract that primarily affects the cortex of the lens NOT_TRANSLATED +en A type of age-related cataract that primarily affects the nucleus of the lens HP:0011142 IAO:0000115 nl A type of age-related cataract that primarily affects the nucleus of the lens NOT_TRANSLATED +en A type of agranulocytosis related to ingestion of a specific medication HP:0012235 IAO:0000115 nl A type of agranulocytosis related to ingestion of a specific medication NOT_TRANSLATED +en A type of airway casts that consist of impacted mucus HP:0025698 IAO:0000115 nl A type of airway casts that consist of impacted mucus NOT_TRANSLATED +en A type of airway casts that consist of plasma components and inflammatory cells HP:0025697 IAO:0000115 nl A type of airway casts that consist of plasma components and inflammatory cells NOT_TRANSLATED +en A type of anemia caused by premature destruction of red blood cells (hemolysis) HP:0001878 IAO:0000115 nl A type of anemia caused by premature destruction of red blood cells (hemolysis) NOT_TRANSLATED +en A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin HP:0004857 IAO:0000115 nl A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin NOT_TRANSLATED +en A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes HP:0001931 IAO:0000115 nl A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes NOT_TRANSLATED +en A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes HP:0004840 IAO:0000115 nl A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes NOT_TRANSLATED +en A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes HP:0004856 IAO:0000115 nl A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes NOT_TRANSLATED +en A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH) HP:0001972 IAO:0000115 nl A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH) NOT_TRANSLATED +en A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days HP:0011895 IAO:0000115 nl A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days NOT_TRANSLATED +en A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction HP:0012410 IAO:0000115 nl A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction NOT_TRANSLATED +en A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis HP:0034409 IAO:0000115 nl A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis NOT_TRANSLATED +en A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface HP:0034410 IAO:0000115 nl A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface NOT_TRANSLATED +en A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter HP:0034411 IAO:0000115 nl A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter NOT_TRANSLATED +en A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green HP:0011520 IAO:0000115 nl A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green NOT_TRANSLATED +en A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green HP:0200018 IAO:0000115 nl A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green NOT_TRANSLATED +en A type of anterior polar cataract which projects as a conical opacity into the anterior chamber HP:0010697 IAO:0000115 nl A type of anterior polar cataract which projects as a conical opacity into the anterior chamber NOT_TRANSLATED +en A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body HP:0001094 IAO:0000115 nl A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body NOT_TRANSLATED +en A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells HP:0025353 IAO:0000115 nl A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells NOT_TRANSLATED +en A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather HP:0000756 IAO:0000115 nl A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather NOT_TRANSLATED +en A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta HP:0034229 IAO:0000115 nl A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta NOT_TRANSLATED +en A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta HP:0034227 IAO:0000115 nl A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta NOT_TRANSLATED +en A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta HP:0034228 IAO:0000115 nl A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta NOT_TRANSLATED +en A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units HP:0032090 IAO:0000115 nl A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units NOT_TRANSLATED +en A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units HP:0032091 IAO:0000115 nl A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units NOT_TRANSLATED +en A type of aphasia that is characterized by impaired language comprehension HP:0033848 IAO:0000115 nl A type of aphasia that is characterized by impaired language comprehension NOT_TRANSLATED +en A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur HP:0011098 IAO:0000115 nl A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur NOT_TRANSLATED +en A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery HP:0033930 IAO:0000115 nl A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery NOT_TRANSLATED +en A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery HP:0033929 IAO:0000115 nl A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery NOT_TRANSLATED +en A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen HP:0033928 IAO:0000115 nl A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen NOT_TRANSLATED +en A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries HP:0033949 IAO:0000115 nl A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries NOT_TRANSLATED +en A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized HP:0033933 IAO:0000115 nl A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED +en A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures HP:0033932 IAO:0000115 nl A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures NOT_TRANSLATED +en A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins HP:0033945 IAO:0000115 nl A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins NOT_TRANSLATED +en A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized HP:0033944 IAO:0000115 nl A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED +en A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures HP:0033943 IAO:0000115 nl A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED +en A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm HP:0005115 IAO:0000115 nl A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm NOT_TRANSLATED +en A type of arthritis that affects up to four joints in the first six months of disease HP:0040313 IAO:0000115 nl A type of arthritis that affects up to four joints in the first six months of disease NOT_TRANSLATED +en A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection HP:0025673 IAO:0000115 nl A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection NOT_TRANSLATED +en A type of ascites in which there are large numbers of eosinophils in the ascitis fluid HP:0031780 IAO:0000115 nl A type of ascites in which there are large numbers of eosinophils in the ascitis fluid NOT_TRANSLATED +en A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction HP:0012042 IAO:0000115 nl A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction NOT_TRANSLATED +en A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea HP:0000483 IAO:0000115 nl A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea NOT_TRANSLATED +en A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted) HP:0031790 IAO:0000115 nl A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted) NOT_TRANSLATED +en A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision HP:0031792 IAO:0000115 nl A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision NOT_TRANSLATED +en A type of astigmatism related to an irregular shape of the lens HP:0031791 IAO:0000115 nl A type of astigmatism related to an irregular shape of the lens NOT_TRANSLATED +en A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall HP:0002066 IAO:0000115 nl A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall NOT_TRANSLATED +en A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible HP:0002075 IAO:0000115 nl A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible NOT_TRANSLATED +en A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts HP:0010867 IAO:0000115 nl A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts NOT_TRANSLATED +en A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements HP:0001310 IAO:0000115 nl A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements NOT_TRANSLATED +en A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit HP:0004749 IAO:0000115 nl A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit NOT_TRANSLATED +en A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1 HP:0031672 IAO:0000115 nl A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1 NOT_TRANSLATED +en A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction HP:0031674 IAO:0000115 nl A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction NOT_TRANSLATED +en A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction HP:0031673 IAO:0000115 nl A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction NOT_TRANSLATED +en A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations HP:0003743 IAO:0000115 nl A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations NOT_TRANSLATED +en A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing HP:0012275 IAO:0000115 nl A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing NOT_TRANSLATED +en A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing HP:0012274 IAO:0000115 nl A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing NOT_TRANSLATED +en A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure HP:0031121 IAO:0000115 nl A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure NOT_TRANSLATED +en A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure HP:0031119 IAO:0000115 nl A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure NOT_TRANSLATED +en A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure HP:0031120 IAO:0000115 nl A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure NOT_TRANSLATED +en A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis HP:0031117 IAO:0000115 nl A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis NOT_TRANSLATED +en A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size HP:0031118 IAO:0000115 nl A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size NOT_TRANSLATED +en A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis HP:0031122 IAO:0000115 nl A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis NOT_TRANSLATED +en A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus HP:0032662 IAO:0000115 nl A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus NOT_TRANSLATED +en A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus HP:0032661 IAO:0000115 nl A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus NOT_TRANSLATED +en A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention HP:0000011 IAO:0000115 nl A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention NOT_TRANSLATED +en A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles HP:0025609 IAO:0000115 nl A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles NOT_TRANSLATED +en A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia HP:0025610 IAO:0000115 nl A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia NOT_TRANSLATED +en A type of blistering in which the cleavage plane of blisters is located below the lamina densa HP:0033803 IAO:0000115 nl A type of blistering in which the cleavage plane of blisters is located below the lamina densa NOT_TRANSLATED +en A type of blistering in which the lesions are located beneath the epidermis HP:0033804 IAO:0000115 nl A type of blistering in which the lesions are located beneath the epidermis NOT_TRANSLATED +en A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells HP:0033802 IAO:0000115 nl A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells NOT_TRANSLATED +en A type of blistering that affects the skin of the palms of the hands and the soles of the feet HP:0007446 IAO:0000115 nl A type of blistering that affects the skin of the palms of the hands and the soles of the feet NOT_TRANSLATED +en A type of blistering that affects the skin of the tibial region HP:0012221 IAO:0000115 nl A type of blistering that affects the skin of the tibial region NOT_TRANSLATED +en A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow HP:0033607 IAO:0000115 nl A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow NOT_TRANSLATED +en A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5 HP:0031044 IAO:0000115 nl A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5 NOT_TRANSLATED +en A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits HP:0031043 IAO:0000115 nl A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits NOT_TRANSLATED +en A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum HP:0030406 IAO:0000115 nl A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum NOT_TRANSLATED +en A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule HP:0005584 IAO:0000115 nl A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule NOT_TRANSLATED +en A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry HP:0031326 IAO:0000115 nl A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry NOT_TRANSLATED +en A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining HP:0031327 IAO:0000115 nl A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining NOT_TRANSLATED +en A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites HP:0006699 IAO:0000115 nl A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites NOT_TRANSLATED +en A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber HP:0012817 IAO:0000115 nl A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber NOT_TRANSLATED +en A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells HP:0005152 IAO:0000115 nl A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells NOT_TRANSLATED +en A type of cataract (opacification of the lens) that forms during the course of aging HP:0011141 IAO:0000115 nl A type of cataract (opacification of the lens) that forms during the course of aging NOT_TRANSLATED +en A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule HP:0010923 IAO:0000115 nl A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule NOT_TRANSLATED +en A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule HP:0007787 IAO:0000115 nl A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule NOT_TRANSLATED +en A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown HP:0025559 IAO:0000115 nl A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown NOT_TRANSLATED +en A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens HP:0007780 IAO:0000115 nl A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens NOT_TRANSLATED +en A type of cataract that is not apparent at birth but that arises in childhood or adolescence HP:0001118 IAO:0000115 nl A type of cataract that is not apparent at birth but that arises in childhood or adolescence NOT_TRANSLATED +en A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree HP:0025571 IAO:0000115 nl A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree NOT_TRANSLATED +en A type of cataract with punctate opacities of the lens HP:0007648 IAO:0000115 nl A type of cataract with punctate opacities of the lens NOT_TRANSLATED +en A type of cellular urinary cast composed of renal tubular epithelial cells HP:0031198 IAO:0000115 nl A type of cellular urinary cast composed of renal tubular epithelial cells NOT_TRANSLATED +en A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone HP:0011445 IAO:0000115 nl A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone NOT_TRANSLATED +en A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck HP:0032141 IAO:0000115 nl A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck NOT_TRANSLATED +en A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea HP:0031241 IAO:0000115 nl A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea NOT_TRANSLATED +en A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea HP:0031240 IAO:0000115 nl A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea NOT_TRANSLATED +en A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea HP:0031239 IAO:0000115 nl A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea NOT_TRANSLATED +en A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration HP:0003220 IAO:0000115 nl A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration NOT_TRANSLATED +en A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2) HP:0012624 IAO:0000115 nl A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2) NOT_TRANSLATED +en A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2) HP:0012625 IAO:0000115 nl A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2) NOT_TRANSLATED +en A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2) HP:0012623 IAO:0000115 nl A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2) NOT_TRANSLATED +en A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2) HP:0012626 IAO:0000115 nl A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2) NOT_TRANSLATED +en A type of cirrhosis characterized by the presence of large regenerative nodules HP:0006577 IAO:0000115 nl A type of cirrhosis characterized by the presence of large regenerative nodules NOT_TRANSLATED +en A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes HP:0011005 IAO:0000115 nl A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes NOT_TRANSLATED +en A type of cirrhosis characterized by the presence of small regenerative nodules HP:0001413 IAO:0000115 nl A type of cirrhosis characterized by the presence of small regenerative nodules NOT_TRANSLATED +en A type of cleft lip presenting as a midline (median) gap in the upper lip HP:0000161 IAO:0000115 nl A type of cleft lip presenting as a midline (median) gap in the upper lip NOT_TRANSLATED +en A type of conductive deafness with congenital onset HP:0008591 IAO:0000115 nl A type of conductive deafness with congenital onset NOT_TRANSLATED +en A type of congenital cataract in which the opacity follows the anterior or posterior Y suture HP:0010695 IAO:0000115 nl A type of congenital cataract in which the opacity follows the anterior or posterior Y suture NOT_TRANSLATED +en A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance HP:0025727 IAO:0000115 nl A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance NOT_TRANSLATED +en A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance) HP:0025726 IAO:0000115 nl A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance) NOT_TRANSLATED +en A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst HP:0025725 IAO:0000115 nl A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst NOT_TRANSLATED +en A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus HP:0001543 IAO:0000115 nl A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus NOT_TRANSLATED +en A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) HP:0033955 IAO:0000115 nl A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) NOT_TRANSLATED +en A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries HP:0033956 IAO:0000115 nl A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries NOT_TRANSLATED +en A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries HP:0033957 IAO:0000115 nl A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries NOT_TRANSLATED +en A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney HP:0033958 IAO:0000115 nl A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney NOT_TRANSLATED +en A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized HP:0033936 IAO:0000115 nl A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED +en A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures HP:0033937 IAO:0000115 nl A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED +en A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries HP:0033962 IAO:0000115 nl A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries NOT_TRANSLATED +en A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air HP:0031247 IAO:0000115 nl A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air NOT_TRANSLATED +en A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations HP:0005321 IAO:0000115 nl A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations NOT_TRANSLATED +en A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position) HP:0034230 IAO:0000115 nl A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position) NOT_TRANSLATED +en A type of cross fused renal ectopia in which kidneys fuse along their medial borders HP:0034233 IAO:0000115 nl A type of cross fused renal ectopia in which kidneys fuse along their medial borders NOT_TRANSLATED +en A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney HP:0034234 IAO:0000115 nl A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney NOT_TRANSLATED +en A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly HP:0034235 IAO:0000115 nl A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly NOT_TRANSLATED +en A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly HP:0034232 IAO:0000115 nl A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly NOT_TRANSLATED +en A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation HP:0034231 IAO:0000115 nl A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation NOT_TRANSLATED +en A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations HP:0025431 IAO:0000115 nl A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations NOT_TRANSLATED +en A type of crying in an abnormally high-pitched voice HP:0025430 IAO:0000115 nl A type of crying in an abnormally high-pitched voice NOT_TRANSLATED +en A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected HP:0011254 IAO:0000115 nl A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected NOT_TRANSLATED +en A type of cryptotia associated with reduction in size of the antihelix and superior crus HP:0011253 IAO:0000115 nl A type of cryptotia associated with reduction in size of the antihelix and superior crus NOT_TRANSLATED +en A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern HP:0032347 IAO:0000115 nl A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern NOT_TRANSLATED +en A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue HP:0032348 IAO:0000115 nl A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue NOT_TRANSLATED +en A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed HP:0012060 IAO:0000115 nl A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed NOT_TRANSLATED +en A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other HP:0031778 IAO:0000115 nl A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other NOT_TRANSLATED +en A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other HP:0031779 IAO:0000115 nl A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other NOT_TRANSLATED +en A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other HP:0031726 IAO:0000115 nl A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other NOT_TRANSLATED +en A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other HP:0031727 IAO:0000115 nl A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other NOT_TRANSLATED +en A type of decreased nerve conduction velocity that affects the motor neuron HP:0003431 IAO:0000115 nl A type of decreased nerve conduction velocity that affects the motor neuron NOT_TRANSLATED +en A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor HP:0006333 IAO:0000115 nl A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor NOT_TRANSLATED +en A type of dental trauma characterized by total dislocation of the tooth from its socket HP:0034415 IAO:0000115 nl A type of dental trauma characterized by total dislocation of the tooth from its socket NOT_TRANSLATED +en A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia HP:0005978 IAO:0000115 nl A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia NOT_TRANSLATED +en A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels HP:0000831 IAO:0000115 nl A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels NOT_TRANSLATED +en A type of diabetic metabolic abnormality with an accumulation of ketone bodies HP:0001953 IAO:0000115 nl A type of diabetic metabolic abnormality with an accumulation of ketone bodies NOT_TRANSLATED +en A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe HP:0006121 IAO:0000115 nl A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe NOT_TRANSLATED +en A type of disproportionate short stature characterized by a short limbs but an average-sized trunk HP:0008873 IAO:0000115 nl A type of disproportionate short stature characterized by a short limbs but an average-sized trunk NOT_TRANSLATED +en A type of disproportionate short stature characterized by a short trunk but a average-sized limbs HP:0003521 IAO:0000115 nl A type of disproportionate short stature characterized by a short trunk but a average-sized limbs NOT_TRANSLATED +en A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth HP:0011404 IAO:0000115 nl A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth NOT_TRANSLATED +en A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth HP:0008857 IAO:0000115 nl A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth NOT_TRANSLATED +en A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood HP:0008922 IAO:0000115 nl A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood NOT_TRANSLATED +en A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy HP:0011406 IAO:0000115 nl A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy NOT_TRANSLATED +en A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg) HP:0008845 IAO:0000115 nl A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg) NOT_TRANSLATED +en A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent HP:0031714 IAO:0000115 nl A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent NOT_TRANSLATED +en A type of divergent strabismus (exotropia) that develops in a poorly seeing eye HP:0031721 IAO:0000115 nl A type of divergent strabismus (exotropia) that develops in a poorly seeing eye NOT_TRANSLATED +en A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch HP:0031562 IAO:0000115 nl A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch NOT_TRANSLATED +en A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality HP:0002464 IAO:0000115 nl A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality NOT_TRANSLATED +en A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones HP:0005832 IAO:0000115 nl A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones NOT_TRANSLATED +en A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones HP:0200001 IAO:0000115 nl A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones NOT_TRANSLATED +en A type of dysmetria involving the limbs HP:0002406 IAO:0000115 nl A type of dysmetria involving the limbs NOT_TRANSLATED +en A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position HP:0033368 IAO:0000115 nl A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position NOT_TRANSLATED +en A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field HP:0010868 IAO:0000115 nl A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field NOT_TRANSLATED +en A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed HP:0010869 IAO:0000115 nl A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed NOT_TRANSLATED +en A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms HP:0031960 IAO:0000115 nl A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms NOT_TRANSLATED +en A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs HP:0031959 IAO:0000115 nl A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs NOT_TRANSLATED +en A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs HP:0002451 IAO:0000115 nl A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs NOT_TRANSLATED +en A type of dystonia that affects all or most of the body HP:0007325 IAO:0000115 nl A type of dystonia that affects all or most of the body NOT_TRANSLATED +en A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles HP:0002530 IAO:0000115 nl A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles NOT_TRANSLATED +en A type of dystonia that is localized to a specific part of the body HP:0004373 IAO:0000115 nl A type of dystonia that is localized to a specific part of the body NOT_TRANSLATED +en A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum HP:0011583 IAO:0000115 nl A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum NOT_TRANSLATED +en A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum HP:0011584 IAO:0000115 nl A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum NOT_TRANSLATED +en A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy HP:0500069 IAO:0000115 nl A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy NOT_TRANSLATED +en A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet HP:0033120 IAO:0000115 nl A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet NOT_TRANSLATED +en A type of eczema that occurs in the lips and perioral area HP:0011127 IAO:0000115 nl A type of eczema that occurs in the lips and perioral area NOT_TRANSLATED +en A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones HP:0032966 IAO:0000115 nl A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones NOT_TRANSLATED +en A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp HP:0002085 IAO:0000115 nl A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp NOT_TRANSLATED +en A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue HP:0006976 IAO:0000115 nl A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue NOT_TRANSLATED +en A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe HP:0031738 IAO:0000115 nl A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe NOT_TRANSLATED +en A type of epicanthus in which a medial vertical fold is present between upper and lower lids HP:0031770 IAO:0000115 nl A type of epicanthus in which a medial vertical fold is present between upper and lower lids NOT_TRANSLATED +en A type of epicanthus in which a primarily upper lid fold is present HP:0031771 IAO:0000115 nl A type of epicanthus in which a primarily upper lid fold is present NOT_TRANSLATED +en A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye) HP:0025611 IAO:0000115 nl A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye) NOT_TRANSLATED +en A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis HP:0025122 IAO:0000115 nl A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis NOT_TRANSLATED +en A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life HP:0034275 IAO:0000115 nl A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life NOT_TRANSLATED +en A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones HP:0020154 IAO:0000115 nl A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones NOT_TRANSLATED +en A type of epileptic spasm of focal onset HP:0032843 IAO:0000115 nl A type of epileptic spasm of focal onset NOT_TRANSLATED +en A type of epileptic spasm of generalized onset HP:0032842 IAO:0000115 nl A type of epileptic spasm of generalized onset NOT_TRANSLATED +en A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain) HP:0020081 IAO:0000115 nl A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain) NOT_TRANSLATED +en A type of erythrocyte inclusion composed of denatured hemoglobin HP:0020082 IAO:0000115 nl A type of erythrocyte inclusion composed of denatured hemoglobin NOT_TRANSLATED +en A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle HP:0031716 IAO:0000115 nl A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle NOT_TRANSLATED +en A type of exotropia in which either eye may be used for fixation HP:0031717 IAO:0000115 nl A type of exotropia in which either eye may be used for fixation NOT_TRANSLATED +en A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation HP:0008653 IAO:0000115 nl A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation NOT_TRANSLATED +en A type of facial cleft located near to but not directly on the midline of the face HP:0031571 IAO:0000115 nl A type of facial cleft located near to but not directly on the midline of the face NOT_TRANSLATED +en A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch HP:0034209 IAO:0000115 nl A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch NOT_TRANSLATED +en A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum HP:0034215 IAO:0000115 nl A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum NOT_TRANSLATED +en A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum HP:0034213 IAO:0000115 nl A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum NOT_TRANSLATED +en A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum HP:0034216 IAO:0000115 nl A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum NOT_TRANSLATED +en A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain HP:0034211 IAO:0000115 nl A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain NOT_TRANSLATED +en A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain HP:0034210 IAO:0000115 nl A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain NOT_TRANSLATED +en A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space) HP:0034212 IAO:0000115 nl A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space) NOT_TRANSLATED +en A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography HP:0034218 IAO:0000115 nl A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography NOT_TRANSLATED +en A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium HP:0034214 IAO:0000115 nl A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium NOT_TRANSLATED +en A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma HP:0034219 IAO:0000115 nl A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma NOT_TRANSLATED +en A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) HP:0033599 IAO:0000115 nl A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED +en A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) HP:0033600 IAO:0000115 nl A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED +en A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus HP:0032649 IAO:0000115 nl A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus NOT_TRANSLATED +en A type of focal atonic seizure during which awareness is fully retained throughout HP:0020218 IAO:0000115 nl A type of focal atonic seizure during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset HP:0032926 IAO:0000115 nl A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset NOT_TRANSLATED +en A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset HP:0032927 IAO:0000115 nl A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs HP:0032913 IAO:0000115 nl A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs NOT_TRANSLATED +en A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs HP:0032901 IAO:0000115 nl A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs NOT_TRANSLATED +en A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset HP:0032902 IAO:0000115 nl A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout HP:0032914 IAO:0000115 nl A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure characterized by involuntary head nodding at onset HP:0032906 IAO:0000115 nl A type of focal automatism seizure characterized by involuntary head nodding at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout HP:0032919 IAO:0000115 nl A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure characterized by involuntary sexual behavior at onset HP:0032905 IAO:0000115 nl A type of focal automatism seizure characterized by involuntary sexual behavior at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout HP:0032917 IAO:0000115 nl A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure characterized by involuntary undressing at onset HP:0032907 IAO:0000115 nl A type of focal automatism seizure characterized by involuntary undressing at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout HP:0032908 IAO:0000115 nl A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure characterized by manual automatisms at onset HP:0032900 IAO:0000115 nl A type of focal automatism seizure characterized by manual automatisms at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout HP:0032912 IAO:0000115 nl A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure characterized by orofacial automatisms at onset HP:0032899 IAO:0000115 nl A type of focal automatism seizure characterized by orofacial automatisms at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout HP:0032911 IAO:0000115 nl A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset HP:0032903 IAO:0000115 nl A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout HP:0032915 IAO:0000115 nl A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset HP:0032904 IAO:0000115 nl A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset NOT_TRANSLATED +en A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout HP:0032916 IAO:0000115 nl A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure during which awareness is fully retained throughout HP:0032910 IAO:0000115 nl A type of focal automatism seizure during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs HP:0032921 IAO:0000115 nl A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs NOT_TRANSLATED +en A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset HP:0032922 IAO:0000115 nl A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset NOT_TRANSLATED +en A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset HP:0032925 IAO:0000115 nl A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset NOT_TRANSLATED +en A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset HP:0032920 IAO:0000115 nl A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset NOT_TRANSLATED +en A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset HP:0032918 IAO:0000115 nl A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset NOT_TRANSLATED +en A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset HP:0032923 IAO:0000115 nl A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset NOT_TRANSLATED +en A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset HP:0032924 IAO:0000115 nl A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset NOT_TRANSLATED +en A type of focal autonomic seizure characterised by penile erection as the intial semiological feature HP:0032764 IAO:0000115 nl A type of focal autonomic seizure characterised by penile erection as the intial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature HP:0011159 IAO:0000115 nl A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature HP:0032765 IAO:0000115 nl A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature HP:0032773 IAO:0000115 nl A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature HP:0032766 IAO:0000115 nl A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature HP:0032762 IAO:0000115 nl A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature HP:0032771 IAO:0000115 nl A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature HP:0032767 IAO:0000115 nl A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature NOT_TRANSLATED +en A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature HP:0032763 IAO:0000115 nl A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature NOT_TRANSLATED +en A type of focal bilateral motor seizure during which awareness is fully retained throughout HP:0032856 IAO:0000115 nl A type of focal bilateral motor seizure during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset HP:0006813 IAO:0000115 nl A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset NOT_TRANSLATED +en A type of focal clonic seizure during which awareness is fully retained throughout HP:0032711 IAO:0000115 nl A type of focal clonic seizure during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure HP:0032725 IAO:0000115 nl A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure NOT_TRANSLATED +en A type of focal cortical dysplasia that is characterized by abnormal cortical layering HP:0032047 IAO:0000115 nl A type of focal cortical dysplasia that is characterized by abnormal cortical layering NOT_TRANSLATED +en A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe HP:0032054 IAO:0000115 nl A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe NOT_TRANSLATED +en A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities HP:0032051 IAO:0000115 nl A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities NOT_TRANSLATED +en A type of focal hypermotor seizure during which awareness is fully retained throughout HP:0032731 IAO:0000115 nl A type of focal hypermotor seizure during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset HP:0032715 IAO:0000115 nl A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset NOT_TRANSLATED +en A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation HP:0011175 IAO:0000115 nl A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation NOT_TRANSLATED +en A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure HP:0032846 IAO:0000115 nl A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure NOT_TRANSLATED +en A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible HP:0032720 IAO:0000115 nl A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible NOT_TRANSLATED +en A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus HP:0011166 IAO:0000115 nl A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus NOT_TRANSLATED +en A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes HP:0011167 IAO:0000115 nl A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes NOT_TRANSLATED +en A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure HP:0032712 IAO:0000115 nl A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en A type of focal motor seizure in which awareness is retained throughout the seizure HP:0020217 IAO:0000115 nl A type of focal motor seizure in which awareness is retained throughout the seizure NOT_TRANSLATED +en A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus HP:0032664 IAO:0000115 nl A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus NOT_TRANSLATED +en A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures HP:0032862 IAO:0000115 nl A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures NOT_TRANSLATED +en A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus HP:0032665 IAO:0000115 nl A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus NOT_TRANSLATED +en A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges HP:0032866 IAO:0000115 nl A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges NOT_TRANSLATED +en A type of focal myoclonic seizure during which awareness is fully retained throughout HP:0032758 IAO:0000115 nl A type of focal myoclonic seizure during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure HP:0011173 IAO:0000115 nl A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure NOT_TRANSLATED +en A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure HP:0032864 IAO:0000115 nl A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure NOT_TRANSLATED +en A type of focal tonic seizure during which awareness is fully retained throughout HP:0032722 IAO:0000115 nl A type of focal tonic seizure during which awareness is fully retained throughout NOT_TRANSLATED +en A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure HP:0032844 IAO:0000115 nl A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure NOT_TRANSLATED +en A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure HP:0032845 IAO:0000115 nl A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure NOT_TRANSLATED +en A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation HP:0011153 IAO:0000115 nl A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation NOT_TRANSLATED +en A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation HP:0032679 IAO:0000115 nl A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation NOT_TRANSLATED +en A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile HP:0002349 IAO:0000115 nl A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile NOT_TRANSLATED +en A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance HP:4000047 IAO:0000115 nl A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance NOT_TRANSLATED +en A type of fracture in which the break is in a straight line across the bone HP:4000044 IAO:0000115 nl A type of fracture in which the break is in a straight line across the bone NOT_TRANSLATED +en A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site HP:4000048 IAO:0000115 nl A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site NOT_TRANSLATED +en A type of fracture in which the break spirals around the bone HP:4000045 IAO:0000115 nl A type of fracture in which the break spirals around the bone NOT_TRANSLATED +en A type of fracture in which the broken bone is not completely separated HP:4000043 IAO:0000115 nl A type of fracture in which the broken bone is not completely separated NOT_TRANSLATED +en A type of fracture in which the broken bone that does not penetrate the skin HP:4000051 IAO:0000115 nl A type of fracture in which the broken bone that does not penetrate the skin NOT_TRANSLATED +en A type of fracture in which the ends of the fractured bone are no longer aligned HP:4000053 IAO:0000115 nl A type of fracture in which the ends of the fractured bone are no longer aligned NOT_TRANSLATED +en A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone HP:4000049 IAO:0000115 nl A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone NOT_TRANSLATED +en A type of fracture in which there is a diagonal break across the bone HP:4000046 IAO:0000115 nl A type of fracture in which there is a diagonal break across the bone NOT_TRANSLATED +en A type of fracture in which there is an open wound or break in the skin near the site of the broken bone HP:4000050 IAO:0000115 nl A type of fracture in which there is an open wound or break in the skin near the site of the broken bone NOT_TRANSLATED +en A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma HP:4000052 IAO:0000115 nl A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma NOT_TRANSLATED +en A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis HP:0032160 IAO:0000115 nl A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis NOT_TRANSLATED +en A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges HP:0032161 IAO:0000115 nl A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges NOT_TRANSLATED +en A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground HP:0002362 IAO:0000115 nl A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground NOT_TRANSLATED +en A type of gait ataxia displaying progression of clinical severity HP:0007240 IAO:0000115 nl A type of gait ataxia displaying progression of clinical severity NOT_TRANSLATED +en A type of gallop rhytm in which both the third and the fourth sounds are present HP:0033114 IAO:0000115 nl A type of gallop rhytm in which both the third and the fourth sounds are present NOT_TRANSLATED +en A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds HP:0005246 IAO:0000115 nl A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds NOT_TRANSLATED +en A type of genetic anticipation observed predominantly upon transmission from affected males HP:0003744 IAO:0000115 nl A type of genetic anticipation observed predominantly upon transmission from affected males NOT_TRANSLATED +en A type of genetically determined disease of the cornea with corneal lesions with a band-like shape HP:0007709 IAO:0000115 nl A type of genetically determined disease of the cornea with corneal lesions with a band-like shape NOT_TRANSLATED +en A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, HP:0012108 IAO:0000115 nl A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, NOT_TRANSLATED +en A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact) HP:0012109 IAO:0000115 nl A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact) NOT_TRANSLATED +en A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle HP:0032119 IAO:0000115 nl A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle NOT_TRANSLATED +en A type of gliosis that occurs in the vicinity of injured neurons HP:0006990 IAO:0000115 nl A type of gliosis that occurs in the vicinity of injured neurons NOT_TRANSLATED +en A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference HP:0033319 IAO:0000115 nl A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference NOT_TRANSLATED +en A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix HP:0033317 IAO:0000115 nl A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix NOT_TRANSLATED +en A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix HP:0033318 IAO:0000115 nl A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix NOT_TRANSLATED +en A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) HP:0033602 IAO:0000115 nl A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED +en A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) HP:0033601 IAO:0000115 nl A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED +en A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity HP:0000793 IAO:0000115 nl A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity NOT_TRANSLATED +en A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space HP:0012578 IAO:0000115 nl A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space NOT_TRANSLATED +en A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris HP:0032253 IAO:0000115 nl A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris NOT_TRANSLATED +en A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles HP:0025470 IAO:0000115 nl A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles NOT_TRANSLATED +en A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs HP:0012199 IAO:0000115 nl A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs NOT_TRANSLATED +en A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs HP:0012228 IAO:0000115 nl A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs NOT_TRANSLATED +en A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz) HP:0005101 IAO:0000115 nl A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz) NOT_TRANSLATED +en A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz) HP:0008542 IAO:0000115 nl A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz) NOT_TRANSLATED +en A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz) HP:0012781 IAO:0000115 nl A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz) NOT_TRANSLATED +en A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset HP:0008527 IAO:0000115 nl A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset NOT_TRANSLATED +en A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve HP:0000407 IAO:0000115 nl A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve NOT_TRANSLATED +en A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss HP:0001963 IAO:0000115 nl A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss NOT_TRANSLATED +en A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment HP:0000410 IAO:0000115 nl A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment NOT_TRANSLATED +en A type of hemolytic anemia in which the Coombs test is positive HP:0004844 IAO:0000115 nl A type of hemolytic anemia in which the Coombs test is positive NOT_TRANSLATED +en A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein HP:0002614 IAO:0000115 nl A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein NOT_TRANSLATED +en A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures HP:0031854 IAO:0000115 nl A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures NOT_TRANSLATED +en A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures HP:0031855 IAO:0000115 nl A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures NOT_TRANSLATED +en A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged HP:0006988 IAO:0000115 nl A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged NOT_TRANSLATED +en A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally HP:0006870 IAO:0000115 nl A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally NOT_TRANSLATED +en A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly HP:0002507 IAO:0000115 nl A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly NOT_TRANSLATED +en A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it HP:4000036 IAO:0000115 nl A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it NOT_TRANSLATED +en A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable HP:0100673 IAO:0000115 nl A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable NOT_TRANSLATED +en A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens HP:0001790 IAO:0000115 nl A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens NOT_TRANSLATED +en A type of hyperbilirubinemia with neonatal onset HP:0003265 IAO:0000115 nl A type of hyperbilirubinemia with neonatal onset NOT_TRANSLATED +en A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia HP:0008200 IAO:0000115 nl A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia NOT_TRANSLATED +en A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism HP:0011770 IAO:0000115 nl A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism NOT_TRANSLATED +en A type of hypertension associated with pheochromocytoma HP:0002640 IAO:0000115 nl A type of hypertension associated with pheochromocytoma NOT_TRANSLATED +en A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity HP:0011771 IAO:0000115 nl A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity NOT_TRANSLATED +en A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits) HP:0004819 IAO:0000115 nl A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits) NOT_TRANSLATED +en A type of hypoplastic anemia with congenital onset HP:0004810 IAO:0000115 nl A type of hypoplastic anemia with congenital onset NOT_TRANSLATED +en A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects HP:0011787 IAO:0000115 nl A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects NOT_TRANSLATED +en A type of hypothyroidism that results from a defect in the thyroid gland HP:0000832 IAO:0000115 nl A type of hypothyroidism that results from a defect in the thyroid gland NOT_TRANSLATED +en A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion HP:0008245 IAO:0000115 nl A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion NOT_TRANSLATED +en A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity HP:0008237 IAO:0000115 nl A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity NOT_TRANSLATED +en A type of hypothyroidism with congenital onset HP:0000851 IAO:0000115 nl A type of hypothyroidism with congenital onset NOT_TRANSLATED +en A type of ichthyosiform erythroderma with postnatal onset HP:0007395 IAO:0000115 nl A type of ichthyosiform erythroderma with postnatal onset NOT_TRANSLATED +en A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia HP:0020041 IAO:0000115 nl A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia NOT_TRANSLATED +en A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards HP:0020043 IAO:0000115 nl A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards NOT_TRANSLATED +en A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection HP:0011450 IAO:0000115 nl A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection NOT_TRANSLATED +en A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection HP:0032162 IAO:0000115 nl A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection NOT_TRANSLATED +en A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection HP:0032169 IAO:0000115 nl A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection NOT_TRANSLATED +en A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections HP:0032101 IAO:0000115 nl A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections NOT_TRANSLATED +en A type of inferior mediastinal mass that is located behind the pericardium HP:0033829 IAO:0000115 nl A type of inferior mediastinal mass that is located behind the pericardium NOT_TRANSLATED +en A type of inferior mediastinal mass that is located in front of the pericardium HP:0033827 IAO:0000115 nl A type of inferior mediastinal mass that is located in front of the pericardium NOT_TRANSLATED +en A type of inferior mediastinal mass that is located withinthe pericardium HP:0033828 IAO:0000115 nl A type of inferior mediastinal mass that is located withinthe pericardium NOT_TRANSLATED +en A type of inflammation of the lips involving one or both of the corners of the mouth HP:0030318 IAO:0000115 nl A type of inflammation of the lips involving one or both of the corners of the mouth NOT_TRANSLATED +en A type of insomnia characterized by waking up (too) early in the morning HP:0031356 IAO:0000115 nl A type of insomnia characterized by waking up (too) early in the morning NOT_TRANSLATED +en A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized HP:0033970 IAO:0000115 nl A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED +en A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures HP:0033971 IAO:0000115 nl A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED +en A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins HP:0033968 IAO:0000115 nl A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins NOT_TRANSLATED +en A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer HP:0031611 IAO:0000115 nl A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer NOT_TRANSLATED +en A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum HP:0033309 IAO:0000115 nl A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum NOT_TRANSLATED +en A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs HP:0032518 IAO:0000115 nl A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs NOT_TRANSLATED +en A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements HP:0032515 IAO:0000115 nl A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements NOT_TRANSLATED +en A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium HP:0011859 IAO:0000115 nl A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium NOT_TRANSLATED +en A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger) HP:0002080 IAO:0000115 nl A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger) NOT_TRANSLATED +en A type of lagophthalmos that occurs following trauma or surgery HP:0030004 IAO:0000115 nl A type of lagophthalmos that occurs following trauma or surgery NOT_TRANSLATED +en A type of lagophthalmos that occurs in association with facial nerve palsy HP:0030003 IAO:0000115 nl A type of lagophthalmos that occurs in association with facial nerve palsy NOT_TRANSLATED +en A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused HP:4000073 IAO:0000115 nl A type of language impairment in which incorrect pronouns are used; i.e., using 'I' for 'you' and/or 'you' for 'I' (e.g., a child saying 'You want some more milk' meaning 'I want some more milk'). Reversal errors involve the person component, such that 'I' and 'you' become confused NOT_TRANSLATED +en A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity HP:0033369 IAO:0000115 nl A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity NOT_TRANSLATED +en A type of lipoid pneumonia in which the source of the lipids is external to the body HP:0033366 IAO:0000115 nl A type of lipoid pneumonia in which the source of the lipids is external to the body NOT_TRANSLATED +en A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace HP:0033365 IAO:0000115 nl A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace NOT_TRANSLATED +en A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter HP:0032456 IAO:0000115 nl A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter NOT_TRANSLATED +en A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out) HP:0030974 IAO:0000115 nl A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out) NOT_TRANSLATED +en A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells HP:0012189 IAO:0000115 nl A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells NOT_TRANSLATED +en A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells HP:0012539 IAO:0000115 nl A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells NOT_TRANSLATED +en A type of lymphoma that involves the nasolacrimal sac HP:0500047 IAO:0000115 nl A type of lymphoma that involves the nasolacrimal sac NOT_TRANSLATED +en A type of lymphoma that originates in B-cells HP:0012191 IAO:0000115 nl A type of lymphoma that originates in B-cells NOT_TRANSLATED +en A type of lymphoma that originates in T-cells HP:0012190 IAO:0000115 nl A type of lymphoma that originates in T-cells NOT_TRANSLATED +en A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons HP:0032046 IAO:0000115 nl A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons NOT_TRANSLATED +en A type of maturation arrest in which only spermatogonia or spermatocytes are found HP:0031039 IAO:0000115 nl A type of maturation arrest in which only spermatogonia or spermatocytes are found NOT_TRANSLATED +en A type of maturation arrest in which spermatids are detected without spermatozoa HP:0031040 IAO:0000115 nl A type of maturation arrest in which spermatids are detected without spermatozoa NOT_TRANSLATED +en A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) HP:0033825 IAO:0000115 nl A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) NOT_TRANSLATED +en A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) HP:0033826 IAO:0000115 nl A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4) NOT_TRANSLATED +en A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate HP:0004851 IAO:0000115 nl A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate NOT_TRANSLATED +en A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine HP:0004860 IAO:0000115 nl A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine NOT_TRANSLATED +en A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia HP:0004826 IAO:0000115 nl A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia NOT_TRANSLATED +en A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid HP:0003339 IAO:0000115 nl A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid NOT_TRANSLATED +en A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown HP:0012057 IAO:0000115 nl A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown NOT_TRANSLATED +en A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color HP:0012058 IAO:0000115 nl A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color NOT_TRANSLATED +en A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities HP:0012570 IAO:0000115 nl A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities NOT_TRANSLATED +en A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid HP:0030452 IAO:0000115 nl A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid NOT_TRANSLATED +en A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test HP:0031782 IAO:0000115 nl A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test NOT_TRANSLATED +en A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC HP:0031781 IAO:0000115 nl A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC NOT_TRANSLATED +en A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession HP:0002077 IAO:0000115 nl A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession NOT_TRANSLATED +en A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline HP:0034185 IAO:0000115 nl A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline NOT_TRANSLATED +en A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain HP:0032291 IAO:0000115 nl A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain NOT_TRANSLATED +en A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain HP:0032293 IAO:0000115 nl A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain NOT_TRANSLATED +en A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain HP:0032294 IAO:0000115 nl A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain NOT_TRANSLATED +en A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain HP:0032295 IAO:0000115 nl A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain NOT_TRANSLATED +en A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain HP:0032292 IAO:0000115 nl A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain NOT_TRANSLATED +en A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands HP:0010862 IAO:0000115 nl A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands NOT_TRANSLATED +en A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling HP:0002194 IAO:0000115 nl A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling NOT_TRANSLATED +en A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography HP:0032667 IAO:0000115 nl A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography NOT_TRANSLATED +en A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees HP:0032082 IAO:0000115 nl A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees NOT_TRANSLATED +en A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units HP:0032081 IAO:0000115 nl A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units NOT_TRANSLATED +en A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform HP:0010983 IAO:0000115 nl A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform NOT_TRANSLATED +en A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci HP:0010982 IAO:0000115 nl A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci NOT_TRANSLATED +en A type of multifactorial inheritance governed by the simultaneous action of two gene loci HP:0010984 IAO:0000115 nl A type of multifactorial inheritance governed by the simultaneous action of two gene loci NOT_TRANSLATED +en A type of muscle stiffness that occurs following physical exertion HP:0008967 IAO:0000115 nl A type of muscle stiffness that occurs following physical exertion NOT_TRANSLATED +en A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum HP:0011625 IAO:0000115 nl A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum NOT_TRANSLATED +en A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts HP:0004828 IAO:0000115 nl A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts NOT_TRANSLATED +en A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces HP:0031329 IAO:0000115 nl A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces NOT_TRANSLATED +en A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces HP:0031328 IAO:0000115 nl A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces NOT_TRANSLATED +en A type of myoclonic status epilepticus in the absence of coma HP:0032668 IAO:0000115 nl A type of myoclonic status epilepticus in the absence of coma NOT_TRANSLATED +en A type of myoclonic status epilepticus in the presence of coma HP:0032669 IAO:0000115 nl A type of myoclonic status epilepticus in the presence of coma NOT_TRANSLATED +en A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli HP:0034360 IAO:0000115 nl A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli NOT_TRANSLATED +en A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous HP:0025357 IAO:0000115 nl A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous NOT_TRANSLATED +en A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers HP:0003737 IAO:0000115 nl A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers NOT_TRANSLATED +en A type of myotonia that worsens with repeated muscle contractions HP:0011809 IAO:0000115 nl A type of myotonia that worsens with repeated muscle contractions NOT_TRANSLATED +en A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe HP:0012782 IAO:0000115 nl A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe NOT_TRANSLATED +en A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls HP:0012783 IAO:0000115 nl A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls NOT_TRANSLATED +en A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy HP:0025647 IAO:0000115 nl A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy NOT_TRANSLATED +en A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy HP:0025650 IAO:0000115 nl A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy NOT_TRANSLATED +en A type of neural tube defect that is covered by skin HP:0034238 IAO:0000115 nl A type of neural tube defect that is covered by skin NOT_TRANSLATED +en A type of neural tube defect that is not covered by skin HP:0034237 IAO:0000115 nl A type of neural tube defect that is not covered by skin NOT_TRANSLATED +en A type of neutropenia that is observed in the presence of granulocyte-specific antibodies HP:0001904 IAO:0000115 nl A type of neutropenia that is observed in the presence of granulocyte-specific antibodies NOT_TRANSLATED +en A type of nevus sebaceous with a linear form, raised borders and yellowish color HP:0010817 IAO:0000115 nl A type of nevus sebaceous with a linear form, raised borders and yellowish color NOT_TRANSLATED +en A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells HP:0030359 IAO:0000115 nl A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells NOT_TRANSLATED +en A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin HP:0030360 IAO:0000115 nl A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin NOT_TRANSLATED +en A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation HP:0033585 IAO:0000115 nl A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation NOT_TRANSLATED +en A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia HP:0033586 IAO:0000115 nl A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia NOT_TRANSLATED +en A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus HP:0010698 IAO:0000115 nl A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus NOT_TRANSLATED +en A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation HP:0007913 IAO:0000115 nl A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation NOT_TRANSLATED +en A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen HP:0025420 IAO:0000115 nl A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen NOT_TRANSLATED +en A type of onion bulb formation prominently affecting the area of the basal lamina HP:0003400 IAO:0000115 nl A type of onion bulb formation prominently affecting the area of the basal lamina NOT_TRANSLATED +en A type of pallor that is secondary to the presence of anemia HP:0001017 IAO:0000115 nl A type of pallor that is secondary to the presence of anemia NOT_TRANSLATED +en A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification HP:0006732 IAO:0000115 nl A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification NOT_TRANSLATED +en A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli HP:0011797 IAO:0000115 nl A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli NOT_TRANSLATED +en A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation HP:0010547 IAO:0000115 nl A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation NOT_TRANSLATED +en A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes HP:0031006 IAO:0000115 nl A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes NOT_TRANSLATED +en A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum HP:0034013 IAO:0000115 nl A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum NOT_TRANSLATED +en A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles HP:0034014 IAO:0000115 nl A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles NOT_TRANSLATED +en A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially HP:0032018 IAO:0000115 nl A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially NOT_TRANSLATED +en A type of perisylvian polymicrogyria that affects both sides of the brain HP:0032407 IAO:0000115 nl A type of perisylvian polymicrogyria that affects both sides of the brain NOT_TRANSLATED +en A type of perisylvian polymicrogyria that largely affects one side of the brain HP:0032406 IAO:0000115 nl A type of perisylvian polymicrogyria that largely affects one side of the brain NOT_TRANSLATED +en A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract HP:0030744 IAO:0000115 nl A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract NOT_TRANSLATED +en A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones HP:0011983 IAO:0000115 nl A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones NOT_TRANSLATED +en A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates HP:0011982 IAO:0000115 nl A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates NOT_TRANSLATED +en A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) HP:0030407 IAO:0000115 nl A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I) NOT_TRANSLATED +en A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women HP:0006767 IAO:0000115 nl A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women NOT_TRANSLATED +en A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess HP:0011761 IAO:0000115 nl A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess NOT_TRANSLATED +en A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH) HP:0008291 IAO:0000115 nl A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH) NOT_TRANSLATED +en A type of pituitary adenoma that produces gonadotropins HP:0011759 IAO:0000115 nl A type of pituitary adenoma that produces gonadotropins NOT_TRANSLATED +en A type of pituitary adenoma that produces growth hormone HP:0011760 IAO:0000115 nl A type of pituitary adenoma that produces growth hormone NOT_TRANSLATED +en A type of pituitary adenoma that produces thyroid stimulating hormone (TSH) HP:0011762 IAO:0000115 nl A type of pituitary adenoma that produces thyroid stimulating hormone (TSH) NOT_TRANSLATED +en A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH HP:0011921 IAO:0000115 nl A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH NOT_TRANSLATED +en A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH HP:0011920 IAO:0000115 nl A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH NOT_TRANSLATED +en A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes HP:0004823 IAO:0000115 nl A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes NOT_TRANSLATED +en A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum HP:0006821 IAO:0000115 nl A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum NOT_TRANSLATED +en A type of posterior cortical cataract characterized by dense lenticular opacities HP:0007948 IAO:0000115 nl A type of posterior cortical cataract characterized by dense lenticular opacities NOT_TRANSLATED +en A type of posterior subcapsular cataract characterized by an iridescent color HP:0007889 IAO:0000115 nl A type of posterior subcapsular cataract characterized by an iridescent color NOT_TRANSLATED +en A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems HP:0004430 IAO:0000115 nl A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems NOT_TRANSLATED +en A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm HP:0030902 IAO:0000115 nl A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm NOT_TRANSLATED +en A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395] HP:0030903 IAO:0000115 nl A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395] NOT_TRANSLATED +en A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched HP:0030906 IAO:0000115 nl A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched NOT_TRANSLATED +en A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign HP:0030904 IAO:0000115 nl A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign NOT_TRANSLATED +en A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout HP:0030905 IAO:0000115 nl A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout NOT_TRANSLATED +en A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 HP:4000058 IAO:0000115 nl A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin. nPMID: 19634399 NOT_TRANSLATED +en A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis HP:0012573 IAO:0000115 nl A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis NOT_TRANSLATED +en A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss HP:0005574 IAO:0000115 nl A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss NOT_TRANSLATED +en A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype HP:0034340 IAO:0000115 nl A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype NOT_TRANSLATED +en A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype HP:0034341 IAO:0000115 nl A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype NOT_TRANSLATED +en A type of pulmonary mass with high attenuation HP:0033830 IAO:0000115 nl A type of pulmonary mass with high attenuation NOT_TRANSLATED +en A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree HP:0006544 IAO:0000115 nl A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree NOT_TRANSLATED +en A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree HP:0011278 IAO:0000115 nl A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree NOT_TRANSLATED +en A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation) HP:0031363 IAO:0000115 nl A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation) NOT_TRANSLATED +en A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones HP:0000839 IAO:0000115 nl A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones NOT_TRANSLATED +en A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea HP:0025612 IAO:0000115 nl A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea NOT_TRANSLATED +en A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes) HP:0033922 IAO:0000115 nl A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes) NOT_TRANSLATED +en A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized HP:0033939 IAO:0000115 nl A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized NOT_TRANSLATED +en A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures HP:0033940 IAO:0000115 nl A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures NOT_TRANSLATED +en A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen HP:0033925 IAO:0000115 nl A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen NOT_TRANSLATED +en A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen HP:0033924 IAO:0000115 nl A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen NOT_TRANSLATED +en A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen HP:0033923 IAO:0000115 nl A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen NOT_TRANSLATED +en A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries HP:0033941 IAO:0000115 nl A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries NOT_TRANSLATED +en A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia HP:0008341 IAO:0000115 nl A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia NOT_TRANSLATED +en A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia HP:0002049 IAO:0000115 nl A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia NOT_TRANSLATED +en A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts HP:0032608 IAO:0000115 nl A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts NOT_TRANSLATED +en A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes HP:0032609 IAO:0000115 nl A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes NOT_TRANSLATED +en A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis HP:0032952 IAO:0000115 nl A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis NOT_TRANSLATED +en A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog HP:0031139 IAO:0000115 nl A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog NOT_TRANSLATED +en A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other HP:0025387 IAO:0000115 nl A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other NOT_TRANSLATED +en A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes HP:0007917 IAO:0000115 nl A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes NOT_TRANSLATED +en A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium HP:0012231 IAO:0000115 nl A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium NOT_TRANSLATED +en A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium HP:0012230 IAO:0000115 nl A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium NOT_TRANSLATED +en A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium HP:0011532 IAO:0000115 nl A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium NOT_TRANSLATED +en A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells) HP:0025241 IAO:0000115 nl A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells) NOT_TRANSLATED +en A type of retinal neovascularization that affects the periphery of the retina HP:0030667 IAO:0000115 nl A type of retinal neovascularization that affects the periphery of the retina NOT_TRANSLATED +en A type of retinal neovascularization that affects the posterior pole of the retina HP:0007778 IAO:0000115 nl A type of retinal neovascularization that affects the posterior pole of the retina NOT_TRANSLATED +en A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus HP:0007937 IAO:0000115 nl A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus NOT_TRANSLATED +en A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched) HP:0002396 IAO:0000115 nl A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched) NOT_TRANSLATED +en A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus HP:0011444 IAO:0000115 nl A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus NOT_TRANSLATED +en A type of rigidity that is manifested by an exaggerated extensor posture of all extremities HP:0025013 IAO:0000115 nl A type of rigidity that is manifested by an exaggerated extensor posture of all extremities NOT_TRANSLATED +en A type of rosette in which a halo of cells surrounds an empty lumen HP:0031928 IAO:0000115 nl A type of rosette in which a halo of cells surrounds an empty lumen NOT_TRANSLATED +en A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel HP:0031929 IAO:0000115 nl A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel NOT_TRANSLATED +en A type of rosette in which the central lumen or hub is filled with fiber-like processes HP:0031926 IAO:0000115 nl A type of rosette in which the central lumen or hub is filled with fiber-like processes NOT_TRANSLATED +en A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular HP:0031930 IAO:0000115 nl A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular NOT_TRANSLATED +en A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern HP:0032105 IAO:0000115 nl A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern NOT_TRANSLATED +en A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV) HP:0009793 IAO:0000115 nl A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV) NOT_TRANSLATED +en A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks HP:0030737 IAO:0000115 nl A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks NOT_TRANSLATED +en A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component HP:0030738 IAO:0000115 nl A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component NOT_TRANSLATED +en A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass HP:0030739 IAO:0000115 nl A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass NOT_TRANSLATED +en A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues HP:0030448 IAO:0000115 nl A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues NOT_TRANSLATED +en A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval HP:0011708 IAO:0000115 nl A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval NOT_TRANSLATED +en A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex HP:0034305 IAO:0000115 nl A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex NOT_TRANSLATED +en A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism) HP:0031276 IAO:0000115 nl A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism) NOT_TRANSLATED +en A type of short-limbed dwarfism that is manifest beginning in the neonatal period HP:0008921 IAO:0000115 nl A type of short-limbed dwarfism that is manifest beginning in the neonatal period NOT_TRANSLATED +en A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment HP:0005522 IAO:0000115 nl A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment NOT_TRANSLATED +en A type of sideroblastic anemia that is not responsive to treatment HP:0004864 IAO:0000115 nl A type of sideroblastic anemia that is not responsive to treatment NOT_TRANSLATED +en A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion) HP:0025554 IAO:0000115 nl A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion) NOT_TRANSLATED +en A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated) HP:0025103 IAO:0000115 nl A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated) NOT_TRANSLATED +en A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue HP:0012218 IAO:0000115 nl A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue NOT_TRANSLATED +en A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes HP:0033747 IAO:0000115 nl A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes NOT_TRANSLATED +en A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait HP:0031958 IAO:0000115 nl A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait NOT_TRANSLATED +en A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use HP:0012407 IAO:0000115 nl A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use NOT_TRANSLATED +en A type of spasticity that affects one or more limbs (arms or legs) HP:0034353 IAO:0000115 nl A type of spasticity that affects one or more limbs (arms or legs) NOT_TRANSLATED +en A type of speech characterized by the presence of an abnormally increased nasal airflow during speech HP:0001611 IAO:0000115 nl A type of speech characterized by the presence of an abnormally increased nasal airflow during speech NOT_TRANSLATED +en A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft HP:0025480 IAO:0000115 nl A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft NOT_TRANSLATED +en A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus HP:0032660 IAO:0000115 nl A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.ncomment: nsource: nseeAlso: Tonic-clonic status epilepticus NOT_TRANSLATED +en A type of status epilepticus without prominent motor symptoms and in the presence of coma HP:0032659 IAO:0000115 nl A type of status epilepticus without prominent motor symptoms and in the presence of coma NOT_TRANSLATED +en A type of status epilepticus without prominent motor symptoms in the absence of coma HP:0032671 IAO:0000115 nl A type of status epilepticus without prominent motor symptoms in the absence of coma NOT_TRANSLATED +en A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit HP:0008588 IAO:0000115 nl A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit NOT_TRANSLATED +en A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down HP:0100023 IAO:0000115 nl A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down NOT_TRANSLATED +en A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period HP:0025648 IAO:0000115 nl A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period NOT_TRANSLATED +en A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period HP:0025649 IAO:0000115 nl A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period NOT_TRANSLATED +en A type of strabismus characterized by permanent upward deviation of the visual axis of one eye HP:0025586 IAO:0000115 nl A type of strabismus characterized by permanent upward deviation of the visual axis of one eye NOT_TRANSLATED +en A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times HP:0010877 IAO:0000115 nl A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times NOT_TRANSLATED +en A type of strabismus in which the visual axis of one eye is higher than that of the other HP:0025587 IAO:0000115 nl A type of strabismus in which the visual axis of one eye is higher than that of the other NOT_TRANSLATED +en A type of strabismus in which the visual axis of one eye is lower than that of the other HP:0025588 IAO:0000115 nl A type of strabismus in which the visual axis of one eye is lower than that of the other NOT_TRANSLATED +en A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract HP:0001691 IAO:0000115 nl A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract NOT_TRANSLATED +en A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance HP:0001692 IAO:0000115 nl A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance NOT_TRANSLATED +en A type of supraventricular tachycardia that originates in the atrioventricular node HP:0011687 IAO:0000115 nl A type of supraventricular tachycardia that originates in the atrioventricular node NOT_TRANSLATED +en A type of sutural cataract in which the opacity follows the posterior Y suture HP:0008031 IAO:0000115 nl A type of sutural cataract in which the opacity follows the posterior Y suture NOT_TRANSLATED +en A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA) HP:0011678 IAO:0000115 nl A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA) NOT_TRANSLATED +en A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex HP:0005170 IAO:0000115 nl A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex NOT_TRANSLATED +en A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex HP:0005178 IAO:0000115 nl A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex NOT_TRANSLATED +en A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers HP:0034424 IAO:0000115 nl A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers NOT_TRANSLATED +en A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery HP:0031349 IAO:0000115 nl A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery NOT_TRANSLATED +en A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA HP:0031348 IAO:0000115 nl A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA NOT_TRANSLATED +en A type of tremors that is triggered by holding a limb in a fixed position HP:0002174 IAO:0000115 nl A type of tremors that is triggered by holding a limb in a fixed position NOT_TRANSLATED +en A type of tremors that is triggered by holding an arm in a fixed position HP:0007351 IAO:0000115 nl A type of tremors that is triggered by holding an arm in a fixed position NOT_TRANSLATED +en A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB HP:0032271 IAO:0000115 nl A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB NOT_TRANSLATED +en A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia HP:0012197 IAO:0000115 nl A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia NOT_TRANSLATED +en A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips HP:0012399 IAO:0000115 nl A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips NOT_TRANSLATED +en A type of undifferentiated germ cell tumor that may be benign or malignant HP:0100620 IAO:0000115 nl A type of undifferentiated germ cell tumor that may be benign or malignant NOT_TRANSLATED +en A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted HP:0032383 IAO:0000115 nl A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted NOT_TRANSLATED +en A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted HP:0032384 IAO:0000115 nl A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted NOT_TRANSLATED +en A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis HP:0025415 IAO:0000115 nl A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis NOT_TRANSLATED +en A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis HP:0025413 IAO:0000115 nl A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis NOT_TRANSLATED +en A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa HP:0025414 IAO:0000115 nl A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa NOT_TRANSLATED +en A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells HP:0031199 IAO:0000115 nl A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells NOT_TRANSLATED +en A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells) HP:0031197 IAO:0000115 nl A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells) NOT_TRANSLATED +en A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection HP:0031204 IAO:0000115 nl A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection NOT_TRANSLATED +en A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta HP:0005310 IAO:0000115 nl A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta NOT_TRANSLATED +en A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries HP:0011944 IAO:0000115 nl A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries NOT_TRANSLATED +en A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve HP:0011621 IAO:0000115 nl A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve NOT_TRANSLATED +en A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG HP:0001664 IAO:0000115 nl A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG NOT_TRANSLATED +en A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so) HP:0031676 IAO:0000115 nl A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so) NOT_TRANSLATED +en A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat) HP:0031677 IAO:0000115 nl A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat) NOT_TRANSLATED +en A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards HP:0500079 IAO:0000115 nl A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards NOT_TRANSLATED +en A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards HP:0500077 IAO:0000115 nl A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards NOT_TRANSLATED +en A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards HP:0500078 IAO:0000115 nl A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards NOT_TRANSLATED +en A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards HP:0500076 IAO:0000115 nl A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards NOT_TRANSLATED +en A type of vesicular eruption in which the vesicles are at different stages HP:0033699 IAO:0000115 nl A type of vesicular eruption in which the vesicles are at different stages NOT_TRANSLATED +en A type of vesicular eruption in which the vesicles are at same stages HP:0033698 IAO:0000115 nl A type of vesicular eruption in which the vesicles are at same stages NOT_TRANSLATED +en A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina HP:0200071 IAO:0000115 nl A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina NOT_TRANSLATED +en A type of vulvar cancer that originates from melanocytes of the vulva HP:0030418 IAO:0000115 nl A type of vulvar cancer that originates from melanocytes of the vulva NOT_TRANSLATED +en A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030199 IAO:0000115 nl A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030198 IAO:0000115 nl A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030200 IAO:0000115 nl A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030197 IAO:0000115 nl A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030192 IAO:0000115 nl A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030196 IAO:0000115 nl A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030193 IAO:0000115 nl A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030194 IAO:0000115 nl A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0030195 IAO:0000115 nl A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions HP:0003473 IAO:0000115 nl A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions NOT_TRANSLATED +en A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes HP:0031290 IAO:0000115 nl A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes NOT_TRANSLATED +en A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event HP:0011147 IAO:0000115 nl A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event NOT_TRANSLATED +en A unilateral absence of sensory perception of sound HP:0009900 IAO:0000115 nl A unilateral absence of sensory perception of sound NOT_TRANSLATED +en A unilateral form of agenesis of the kidney HP:0000122 IAO:0000115 nl A unilateral form of agenesis of the kidney NOT_TRANSLATED +en A unilateral form of atrophy of the kidney HP:0008717 IAO:0000115 nl A unilateral form of atrophy of the kidney NOT_TRANSLATED +en A unilateral form of developmental dysplasia of the kidney HP:0008718 IAO:0000115 nl A unilateral form of developmental dysplasia of the kidney NOT_TRANSLATED +en A unilateral form of ptosis HP:0007687 IAO:0000115 nl A unilateral form of ptosis NOT_TRANSLATED +en A unilateral or bilateral eyelid retraction due to midbrain lesions HP:0500045 IAO:0000115 nl A unilateral or bilateral eyelid retraction due to midbrain lesions NOT_TRANSLATED +en A unilateral vestibular Schwannoma (acoustic neurinoma) HP:0009590 IAO:0000115 nl A unilateral vestibular Schwannoma (acoustic neurinoma) NOT_TRANSLATED +en A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees HP:0025549 IAO:0000115 nl A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees NOT_TRANSLATED +en A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts HP:0005534 IAO:0000115 nl A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts NOT_TRANSLATED +en A ureterocele is a congenital saccular dilatation of the distal segment of the ureter HP:0000070 IAO:0000115 nl A ureterocele is a congenital saccular dilatation of the distal segment of the ureter NOT_TRANSLATED +en A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation HP:0025488 IAO:0000115 nl A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation NOT_TRANSLATED +en A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract HP:0030074 IAO:0000115 nl A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract NOT_TRANSLATED +en A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells HP:0030432 IAO:0000115 nl A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells NOT_TRANSLATED +en A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn HP:0031909 IAO:0000115 nl A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn NOT_TRANSLATED +en A variability of phenotypic features HP:0003812 IAO:0000115 nl A variability of phenotypic features NOT_TRANSLATED +en A variable severity of phenotypic features HP:0003828 IAO:0000115 nl A variable severity of phenotypic features NOT_TRANSLATED +en A variant of central retinal vein occlusions that involves the superior or inferior half of the retina HP:0020167 IAO:0000115 nl A variant of central retinal vein occlusions that involves the superior or inferior half of the retina NOT_TRANSLATED +en A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life HP:0025106 IAO:0000115 nl A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life NOT_TRANSLATED +en A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration HP:0031172 IAO:0000115 nl A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration NOT_TRANSLATED +en A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum HP:0012871 IAO:0000115 nl A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum NOT_TRANSLATED +en A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance HP:0033068 IAO:0000115 nl A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance NOT_TRANSLATED +en A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus HP:0031488 IAO:0000115 nl A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus NOT_TRANSLATED +en A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis HP:0031487 IAO:0000115 nl A vascular malformation located in the lip that is characterized bynectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis NOT_TRANSLATED +en A vascular malformation located in the lip that is related to abnormal vascular morphogenesis HP:0031489 IAO:0000115 nl A vascular malformation located in the lip that is related to abnormal vascular morphogenesis NOT_TRANSLATED +en A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia HP:0031490 IAO:0000115 nl A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia NOT_TRANSLATED +en A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region HP:0012721 IAO:0000115 nl A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region NOT_TRANSLATED +en A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation HP:0012329 IAO:0000115 nl A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation NOT_TRANSLATED +en A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries HP:0034319 IAO:0000115 nl A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries NOT_TRANSLATED +en A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed HP:0030934 IAO:0000115 nl A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed NOT_TRANSLATED +en A venous angioma of the frontal lobe of the brain HP:0012482 IAO:0000115 nl A venous angioma of the frontal lobe of the brain NOT_TRANSLATED +en A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus HP:0011644 IAO:0000115 nl A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus NOT_TRANSLATED +en A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms) HP:0005155 IAO:0000115 nl A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms) NOT_TRANSLATED +en A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus HP:0011622 IAO:0000115 nl A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus NOT_TRANSLATED +en A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs HP:0011682 IAO:0000115 nl A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs NOT_TRANSLATED +en A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum HP:0011681 IAO:0000115 nl A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum NOT_TRANSLATED +en A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG) HP:0031675 IAO:0000115 nl A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG) NOT_TRANSLATED +en A vertical gaze palsy with inability to direct the gaze of the eyes downwards HP:0000623 IAO:0000115 nl A vertical gaze palsy with inability to direct the gaze of the eyes downwards NOT_TRANSLATED +en A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period HP:0500048 IAO:0000115 nl A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period NOT_TRANSLATED +en A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear HP:0009588 IAO:0000115 nl A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear NOT_TRANSLATED +en A viral infection that fails to be contained by the immune sytem and spreads throughout the body HP:0031696 IAO:0000115 nl A viral infection that fails to be contained by the immune sytem and spreads throughout the body NOT_TRANSLATED +en A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank HP:0012508 IAO:0000115 nl A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank NOT_TRANSLATED +en A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness HP:0012047 IAO:0000115 nl A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness NOT_TRANSLATED +en A voluntary contraction of the abdominal wall musculature to avoid pain HP:0032546 IAO:0000115 nl A voluntary contraction of the abdominal wall musculature to avoid pain NOT_TRANSLATED +en A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle HP:0031482 IAO:0000115 nl A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle NOT_TRANSLATED +en A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus HP:0033002 IAO:0000115 nl A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus NOT_TRANSLATED +en A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx HP:0033001 IAO:0000115 nl A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx NOT_TRANSLATED +en A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea HP:0033003 IAO:0000115 nl A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea NOT_TRANSLATED +en A wartlike (with multiple small elevated projections) papule HP:0012500 IAO:0000115 nl A wartlike (with multiple small elevated projections) papule NOT_TRANSLATED +en A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability HP:0012477 IAO:0000115 nl A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability NOT_TRANSLATED +en A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter HP:0030351 IAO:0000115 nl A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter NOT_TRANSLATED +en A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation HP:0020073 IAO:0000115 nl A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation NOT_TRANSLATED +en A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease HP:0012859 IAO:0000115 nl A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease NOT_TRANSLATED +en A widely spaced gap between the first toe (the great toe) and the second toe HP:0001852 IAO:0000115 nl A widely spaced gap between the first toe (the great toe) and the second toe NOT_TRANSLATED +en A widely spaced gap between the fourth toe and the fifth (pinky) toe HP:0410261 IAO:0000115 nl A widely spaced gap between the fourth toe and the fifth (pinky) toe NOT_TRANSLATED +en A widening (ballooning) localized in the wall of the posterior communicating artery HP:0031773 IAO:0000115 nl A widening (ballooning) localized in the wall of the posterior communicating artery NOT_TRANSLATED +en A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level HP:0100775 IAO:0000115 nl A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level NOT_TRANSLATED +en A widespread rash HP:4000054 IAO:0000115 nl A widespread rash NOT_TRANSLATED +en A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx HP:0034417 IAO:0000115 nl A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx NOT_TRANSLATED +en A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy HP:0008052 IAO:0000115 nl A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy NOT_TRANSLATED +en A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment HP:0010526 IAO:0000115 nl A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment NOT_TRANSLATED +en A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape HP:0009781 IAO:0000115 nl A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape NOT_TRANSLATED +en AA amyloidosis HP:4000041 rdfs:label nl AA amyloidosis NOT_TRANSLATED +en ABO blood group HP:0032224 rdfs:label nl ABO blood group NOT_TRANSLATED +en ABO phenotype A, corresponding to the genotype AO or AA HP:0032370 IAO:0000115 nl ABO phenotype A, corresponding to the genotype AO or AA NOT_TRANSLATED +en ABO phenotype AB, corresponding to the genotype AB HP:0032441 IAO:0000115 nl ABO phenotype AB, corresponding to the genotype AB NOT_TRANSLATED +en ABO phenotype B, corresponding to the genotype BO or BB HP:0032440 IAO:0000115 nl ABO phenotype B, corresponding to the genotype BO or BB NOT_TRANSLATED +en ABO phenotype O, corresponding to the genotype OO HP:0032442 IAO:0000115 nl ABO phenotype O, corresponding to the genotype OO NOT_TRANSLATED +en APUdoma HP:0040192 rdfs:label nl APUdoom CANDIDATE +en AV nodal tachycardia HP:0011687 rdfs:label nl AV-knoop tachycardie CANDIDATE +en Abasia HP:0012651 rdfs:label nl Abasie CANDIDATE +en Abdominal adhesions HP:0033134 rdfs:label nl Abdominal adhesions NOT_TRANSLATED +en Abdominal aortic aneurysm HP:0005112 rdfs:label nl Abdominaal aorta aneurysma CANDIDATE +en Abdominal aortic calcification HP:0031313 rdfs:label nl Abdominale aorta calcificatie CANDIDATE +en Abdominal aortic dissection HP:0033311 rdfs:label nl Abdominal aortic dissection NOT_TRANSLATED +en Abdominal aseptic abscess HP:0025181 rdfs:label nl Abdominaal aseptisch abces CANDIDATE +en Abdominal colic HP:0011848 rdfs:label nl Abdominale koliekpijnen CANDIDATE +en Abdominal cramps HP:0032155 rdfs:label nl Abdominal cramps NOT_TRANSLATED +en Abdominal distention HP:0003270 rdfs:label nl Abdominale distensie CANDIDATE +en Abdominal ectopia cordis HP:0011582 rdfs:label nl Abdominale ectopia cordis CANDIDATE +en Abdominal guarding HP:0032546 rdfs:label nl Abdominal guarding NOT_TRANSLATED +en Abdominal mass HP:0031500 rdfs:label nl Abdominale massa CANDIDATE +en Abdominal obesity HP:0012743 rdfs:label nl Abdominale obesitas CANDIDATE +en Abdominal pain HP:0002027 rdfs:label nl Abdominale pijn CANDIDATE +en Abdominal rigidity HP:0032545 rdfs:label nl Abdominal rigidity NOT_TRANSLATED +en Abdominal situs ambiguus HP:0031565 rdfs:label nl Abdominale situs ambiguus CANDIDATE +en Abdominal situs inversus HP:0003363 rdfs:label nl Abdominale situs inversus CANDIDATE +en Abdominal symptom HP:0011458 rdfs:label nl Abdominale symptomen CANDIDATE +en Abdominal wall defect HP:0010866 rdfs:label nl Buikwand defect CANDIDATE +en Abdominal wall muscle weakness HP:0009023 rdfs:label nl Buikwand spierzwakte CANDIDATE +en Abducens palsy HP:0006897 rdfs:label nl Hersenzenuw VI parese CANDIDATE +en Aberrant melanosome maturation HP:0007384 rdfs:label nl Aberrante melanosoom maturatie CANDIDATE +en Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced HP:0033614 IAO:0000115 nl Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced NOT_TRANSLATED +en Abetalipoproteinemia HP:0008181 rdfs:label nl Abetalipoproteïnemie CANDIDATE +en Ablepharon HP:0011224 rdfs:label nl Ablefaron CANDIDATE +en Abnormal (non-physiological) constriction of the pupil HP:0000616 IAO:0000115 nl Abnormal (non-physiological) constriction of the pupil NOT_TRANSLATED +en Abnormal (non-physiological) constriction of the pupil of congenital onset HP:0007728 IAO:0000115 nl Abnormal (non-physiological) constriction of the pupil of congenital onset NOT_TRANSLATED +en Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes HP:0000076 IAO:0000115 nl Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes NOT_TRANSLATED +en Abnormal 1st metacarpal morphology HP:0010009 rdfs:label nl Afwijking van de 1 metacarpaal CANDIDATE +en Abnormal 2nd finger morphology HP:0004100 rdfs:label nl Afwijking van de 2e vinger CANDIDATE +en Abnormal 2nd metacarpal morphology HP:0010010 rdfs:label nl Afwijking van de 2e metacarpaal CANDIDATE +en Abnormal 3rd finger morphology HP:0004150 rdfs:label nl Afwijking van de 3e vinger CANDIDATE +en Abnormal 3rd finger phalanx morphology HP:0009316 rdfs:label nl Afwijking van de falangen van de 3e vinger CANDIDATE +en Abnormal 3rd metacarpal morphology HP:0010011 rdfs:label nl Afwijking van de 3e metacarpaal CANDIDATE +en Abnormal 4th finger morphology HP:0004188 rdfs:label nl Afwijking van de 4e vinger CANDIDATE +en Abnormal 4th finger phalanx morphology HP:0009172 rdfs:label nl Afwijking van de falangen van de 4e vinger CANDIDATE +en Abnormal 4th metacarpal morphology HP:0010012 rdfs:label nl Afwijking van de 4 metacarpaal CANDIDATE +en Abnormal 5th finger morphology HP:0004207 rdfs:label nl Afwijking van de 5e vinger CANDIDATE +en Abnormal 5th finger phalanx morphology HP:0004213 rdfs:label nl Afwijking van de falangen van de 5e vinger CANDIDATE +en Abnormal 5th metacarpal morphology HP:0010013 rdfs:label nl Afwijking van de 5e metacarpaal CANDIDATE +en Abnormal A-type atrial natriuretic peptide level HP:0020182 rdfs:label nl Abnormal A-type atrial natriuretic peptide level NOT_TRANSLATED +en Abnormal Amsler grid test HP:0030590 rdfs:label nl Afwijkend Amslertest CANDIDATE +en Abnormal B cell count HP:0010975 rdfs:label nl Afwijkend aantal B-cellen CANDIDATE +en Abnormal B cell morphology HP:0002846 rdfs:label nl Abnormale B cel morfologie CANDIDATE +en Abnormal B cell proliferation HP:0031380 rdfs:label nl Afwijkende B-cel proliferatie CANDIDATE +en Abnormal B cell subset distribution HP:0025539 rdfs:label nl Afwijkende B-cel subset distributie CANDIDATE +en Abnormal B-type natriuretic peptide level HP:0031138 rdfs:label nl Afwijkend B-type natriuretisch peptide niveau CANDIDATE +en Abnormal Bowman capsule morphology HP:0031264 rdfs:label nl Afwijkende morfologie van kapsel van Bowman CANDIDATE +en Abnormal Bowman space morphology HP:0033312 rdfs:label nl Abnormal Bowman space morphology NOT_TRANSLATED +en Abnormal CD25 upregulation upon TCR activation HP:0031269 rdfs:label nl Afwijkende CD25 opregulatie na activatie van TCR CANDIDATE +en Abnormal CD4+CD25+ regulatory T cell proportion HP:0020111 rdfs:label nl Abnormal CD4+CD25+ regulatory T cell proportion NOT_TRANSLATED +en Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count HP:0030335 rdfs:label nl Afwijkend aantal CD4-positieve, CD25-positieve, alfa-beta regulerende T-cellen CANDIDATE +en Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology HP:0030334 rdfs:label nl Afwijkende CD4-positieve, CD25-positieve, alfa-beta regulerende T-cellen morfologie CANDIDATE +en Abnormal CD4:CD8 ratio HP:0031394 rdfs:label nl Afwijkende CD4:CD8 verhouding CANDIDATE +en Abnormal CD69 upregulation upon TCR activation HP:0031267 rdfs:label nl Afwijkende CD69 opregulatie na activatie van TCR CANDIDATE +en Abnormal CNS myelination HP:0011400 rdfs:label nl Afwijkende CNZ myelinisering CANDIDATE +en Abnormal CSF alanine concentration HP:0500232 rdfs:label nl Abnormal CSF alanine concentration NOT_TRANSLATED +en Abnormal CSF albumin concentration HP:0500238 rdfs:label nl Abnormal CSF albumin concentration NOT_TRANSLATED +en Abnormal CSF alpha-aminobutyrate concentration HP:0500247 rdfs:label nl Abnormal CSF alpha-aminobutyrate concentration NOT_TRANSLATED +en Abnormal CSF amino acid concentration HP:0500184 rdfs:label nl Abnormal CSF amino acid concentration NOT_TRANSLATED +en Abnormal CSF amyloid concentration HP:0030860 rdfs:label nl Afwijkend liquor amyloïd niveau CANDIDATE +en Abnormal CSF arginine concentration HP:0500202 rdfs:label nl Abnormal CSF arginine concentration NOT_TRANSLATED +en Abnormal CSF aromatic amino acid concentration HP:0500214 rdfs:label nl Abnormal CSF aromatic amino acid concentration NOT_TRANSLATED +en Abnormal CSF aspartate concentration HP:0500216 rdfs:label nl Abnormal CSF aspartate concentration NOT_TRANSLATED +en Abnormal CSF aspartate family amino acid concentration HP:0500205 rdfs:label nl Abnormal CSF aspartate family amino acid concentration NOT_TRANSLATED +en Abnormal CSF biopterin concentration HP:0040207 rdfs:label nl Afwijkend liquor biopterine niveau CANDIDATE +en Abnormal CSF branched chain amino acid concentration HP:0500185 rdfs:label nl Abnormal CSF branched chain amino acid concentration NOT_TRANSLATED +en Abnormal CSF carboxylic acid concentration HP:0500183 rdfs:label nl Abnormal CSF carboxylic acid concentration NOT_TRANSLATED +en Abnormal CSF carnosine concentration HP:0500240 rdfs:label nl Abnormal CSF carnosine concentration NOT_TRANSLATED +en Abnormal CSF citrulline concentration HP:0500245 rdfs:label nl Abnormal CSF citrulline concentration NOT_TRANSLATED +en Abnormal CSF dopamine concentration HP:0012654 rdfs:label nl Afwijkend liquor dopamine niveau CANDIDATE +en Abnormal CSF glucose concentration HP:0031884 rdfs:label nl Abnormal CSF glucose concentration NOT_TRANSLATED +en Abnormal CSF glutamate concentration HP:0500199 rdfs:label nl Abnormal CSF glutamate concentration NOT_TRANSLATED +en Abnormal CSF glutamine concentration HP:0500196 rdfs:label nl Abnormal CSF glutamine concentration NOT_TRANSLATED +en Abnormal CSF glutamine family amino acid concentration HP:0500195 rdfs:label nl Abnormal CSF glutamine family amino acid concentration NOT_TRANSLATED +en Abnormal CSF glycine concentration HP:0500229 rdfs:label nl Abnormal CSF glycine concentration NOT_TRANSLATED +en Abnormal CSF histidine concentration HP:0500235 rdfs:label nl Abnormal CSF histidine concentration NOT_TRANSLATED +en Abnormal CSF homocarnosine concentration HP:0500241 rdfs:label nl Abnormal CSF homocarnosine concentration NOT_TRANSLATED +en Abnormal CSF homovanillic acid concentration HP:0034200 rdfs:label nl Abnormal CSF homovanillic acid concentration NOT_TRANSLATED +en Abnormal CSF isoleucine concentration HP:0500192 rdfs:label nl Abnormal CSF isoleucine concentration NOT_TRANSLATED +en Abnormal CSF lactate concentration HP:0030085 rdfs:label nl Afwijkend liquor lactaat niveau CANDIDATE +en Abnormal CSF leucine concentration HP:0500189 rdfs:label nl Abnormal CSF leucine concentration NOT_TRANSLATED +en Abnormal CSF lysine concentration HP:0500206 rdfs:label nl Abnormal CSF lysine concentration NOT_TRANSLATED +en Abnormal CSF metabolite concentration HP:0025454 rdfs:label nl Afwijkend liquor metaboliet niveau CANDIDATE +en Abnormal CSF methionine concentration HP:0500209 rdfs:label nl Abnormal CSF methionine concentration NOT_TRANSLATED +en Abnormal CSF neopterin concentration HP:0040203 rdfs:label nl Afwijkend liquor neopterine niveau CANDIDATE +en Abnormal CSF ornithine concentration HP:0500243 rdfs:label nl Abnormal CSF ornithine concentration NOT_TRANSLATED +en Abnormal CSF phenylalanine concentration HP:0500215 rdfs:label nl Abnormal CSF phenylalanine concentration NOT_TRANSLATED +en Abnormal CSF protein concentration HP:0025456 rdfs:label nl Afwijkend liquor eiwit niveau CANDIDATE +en Abnormal CSF pyruvate family amino acid concentration HP:0500231 rdfs:label nl Abnormal CSF pyruvate family amino acid concentration NOT_TRANSLATED +en Abnormal CSF serine concentration HP:0500226 rdfs:label nl Abnormal CSF serine concentration NOT_TRANSLATED +en Abnormal CSF serine family amino acid concentration HP:0500225 rdfs:label nl Abnormal CSF serine family amino acid concentration NOT_TRANSLATED +en Abnormal CSF threonine concentration HP:0500211 rdfs:label nl Abnormal CSF threonine concentration NOT_TRANSLATED +en Abnormal CSF tryptophan concentration HP:0500218 rdfs:label nl Abnormal CSF tryptophan concentration NOT_TRANSLATED +en Abnormal CSF tyrosine concentration HP:0500219 rdfs:label nl Abnormal CSF tyrosine concentration NOT_TRANSLATED +en Abnormal CSF urate concentration HP:0500117 rdfs:label nl Abnormal CSF urate concentration NOT_TRANSLATED +en Abnormal CSF valine concentration HP:0500186 rdfs:label nl Abnormal CSF valine concentration NOT_TRANSLATED +en Abnormal CSF/serum albumin ratio HP:0030981 rdfs:label nl Afwijkend liquor/serum albumine ratio CANDIDATE +en Abnormal DLCO HP:0045049 rdfs:label nl Afwijkende DLCO CANDIDATE +en Abnormal Descemet membrane morphology HP:0011490 rdfs:label nl Afwijking van de membraan van Descemet CANDIDATE +en Abnormal EKG HP:0003115 rdfs:label nl Abnormaal ECG CANDIDATE +en Abnormal Esterman grid perimetry test HP:0030599 rdfs:label nl Afwijkende Estermann perimetrie test CANDIDATE +en Abnormal Eustachian tube morphology HP:0040115 rdfs:label nl Afwijking van de buis van Eustachius CANDIDATE +en Abnormal HDL cholesterol concentration HP:0031888 rdfs:label nl Abnormal HDL cholesterol concentration NOT_TRANSLATED +en Abnormal HDL subfraction concentration HP:0032418 rdfs:label nl Abnormal HDL subfraction concentration NOT_TRANSLATED +en Abnormal HDL2a concentration HP:0032419 rdfs:label nl Abnormal HDL2a concentration NOT_TRANSLATED +en Abnormal HDL2b concentration HP:0032422 rdfs:label nl Abnormal HDL2b concentration NOT_TRANSLATED +en Abnormal HDL3a concentration HP:0032425 rdfs:label nl Abnormal HDL3a concentration NOT_TRANSLATED +en Abnormal HDL3b concentration HP:0032426 rdfs:label nl Abnormal HDL3b concentration NOT_TRANSLATED +en Abnormal HDL3c concentration HP:0032427 rdfs:label nl Abnormal HDL3c concentration NOT_TRANSLATED +en Abnormal Hardy-Rand-Rittler plate test HP:0030587 rdfs:label nl Afwijkende Hardy-Rand-Rittler test CANDIDATE +en Abnormal Humphrey SITA 10-2 perimetry test HP:0030598 rdfs:label nl Afwijkende Humphrey SITA 10-2 perimetrie test CANDIDATE +en Abnormal Humphrey SITA 24-2 perimetry test HP:0030597 rdfs:label nl Afwijkende Humphrey SITA 24-2 perimetrie test CANDIDATE +en Abnormal Humphrey SITA 30-2 perimetry test HP:0030596 rdfs:label nl Afwijkende Humphrey SITA 30-2 perimetrie test CANDIDATE +en Abnormal Ishihara plate test HP:0030586 rdfs:label nl Afwijkende Ishiharatest CANDIDATE +en Abnormal KCO HP:0033372 rdfs:label nl Abnormal KCO NOT_TRANSLATED +en Abnormal L-selectin shedding HP:0410251 rdfs:label nl Abnormal L-selectin shedding NOT_TRANSLATED +en Abnormal LDL cholesterol concentration HP:0031886 rdfs:label nl Abnormal LDL cholesterol concentration NOT_TRANSLATED +en Abnormal Langerhans cell morphology HP:0031871 rdfs:label nl Abnormal Langerhans cell morphology NOT_TRANSLATED +en Abnormal MHC II surface expression HP:0031389 rdfs:label nl Afwijkende MHC II oppervlakte expressie CANDIDATE +en Abnormal OCT-measured foveal thickness HP:0030617 rdfs:label nl Afwijkende fovea dikte gemeten met OCT CANDIDATE +en Abnormal OCT-measured macular thickness HP:0030606 rdfs:label nl Afwijkende macula dikte gemeten met OCT CANDIDATE +en Abnormal P wave HP:0031595 rdfs:label nl Afwijkende P-golf CANDIDATE +en Abnormal P50/N95 ratio of pattern electroretinogram HP:0030487 rdfs:label nl Abnormal P50/N95 ratio of pattern electroretinogram NOT_TRANSLATED +en Abnormal PR interval HP:0031593 rdfs:label nl Afwijkend PR-interval CANDIDATE +en Abnormal PR segment HP:0031596 rdfs:label nl Afwijkend PR-segment CANDIDATE +en Abnormal Pelli Robson contrast sensitivity chart test HP:0032112 rdfs:label nl Abnormal Pelli Robson contrast sensitivity chart test NOT_TRANSLATED +en Abnormal QRS complex HP:0025074 rdfs:label nl Afwijkend QRS complex CANDIDATE +en Abnormal QRS voltage HP:0025076 rdfs:label nl Afwijkend QRS voltage CANDIDATE +en Abnormal QT interval HP:0031547 rdfs:label nl Afwijkend QT-interval CANDIDATE +en Abnormal RV/TLC ratio HP:0033772 rdfs:label nl Abnormal RV/TLC ratio NOT_TRANSLATED +en Abnormal S wave HP:0032195 rdfs:label nl Abnormal S wave NOT_TRANSLATED +en Abnormal ST segment HP:0012249 rdfs:label nl Afwijkend ST-segment CANDIDATE +en Abnormal Schwann cell morphology HP:0033035 rdfs:label nl Abnormal Schwann cell morphology NOT_TRANSLATED +en Abnormal Sharpey fiber morphology HP:0100685 rdfs:label nl Afwijking van de sharpeyvezels CANDIDATE +en Abnormal T cell activation HP:0410035 rdfs:label nl Abnormale T-cel activatie CANDIDATE +en Abnormal T cell count HP:0011839 rdfs:label nl Afwijkend aantal T-cellen CANDIDATE +en Abnormal T cell morphology HP:0002843 rdfs:label nl Abnormale T cel morfologie CANDIDATE +en Abnormal T cell proliferation HP:0031379 rdfs:label nl Afwijkende T-cel proliferatie CANDIDATE +en Abnormal T cell subset distribution HP:0025540 rdfs:label nl Afwijkende T-cel subset distributie CANDIDATE +en Abnormal T-wave HP:0005135 rdfs:label nl Afwijkende T-golf CANDIDATE +en Abnormal T3/T4 ratio HP:0012558 rdfs:label nl Afwijkende T3/T4 verhouding CANDIDATE +en Abnormal TSH response to thyrotrophin-releasing hormone stimulation test HP:0033080 rdfs:label nl Abnormal TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED +en Abnormal U wave HP:0025070 rdfs:label nl Afwijkende U-golf CANDIDATE +en Abnormal VLDL cholesterol concentration HP:0031889 rdfs:label nl Abnormal VLDL cholesterol concentration NOT_TRANSLATED +en Abnormal Vistech contrast sensitivity test HP:0032111 rdfs:label nl Abnormal Vistech contrast sensitivity test NOT_TRANSLATED +en Abnormal Z disc morphology HP:0020202 rdfs:label nl Abnormal Z disc morphology NOT_TRANSLATED +en Abnormal abdomen morphology HP:0001438 rdfs:label nl Afwijking van de morfologie van de buik CANDIDATE +en Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney HP:0032644 IAO:0000115 nl Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney NOT_TRANSLATED +en Abnormal accumulation of autophagosomes in skeletal muscle tissue HP:0025717 IAO:0000115 nl Abnormal accumulation of autophagosomes in skeletal muscle tissue NOT_TRANSLATED +en Abnormal accumulation of fluid and swelling of the stroma of cornea HP:0012040 IAO:0000115 nl Abnormal accumulation of fluid and swelling of the stroma of cornea NOT_TRANSLATED +en Abnormal accumulation of fluid in or around the ankle joint HP:0032063 IAO:0000115 nl Abnormal accumulation of fluid in or around the ankle joint NOT_TRANSLATED +en Abnormal accumulation of fluid in the brain HP:0002181 IAO:0000115 nl Abnormal accumulation of fluid in the brain NOT_TRANSLATED +en Abnormal accumulation of fluid leading to swelling of the pharynx HP:0011855 IAO:0000115 nl Abnormal accumulation of fluid leading to swelling of the pharynx NOT_TRANSLATED +en Abnormal accumulation of lymphocytes in the interstitium of the lung HP:0033582 IAO:0000115 nl Abnormal accumulation of lymphocytes in the interstitium of the lung NOT_TRANSLATED +en Abnormal acetabulum morphology HP:0003170 rdfs:label nl Afwijking van het acetabulum CANDIDATE +en Abnormal acid accumulation or depletion of base HP:0001941 IAO:0000115 nl Abnormal acid accumulation or depletion of base NOT_TRANSLATED +en Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa HP:0033062 IAO:0000115 nl Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa NOT_TRANSLATED +en Abnormal activity of mitochondrial respiratory chain HP:0011922 rdfs:label nl Afwijkende activiteit van mitochondriale ademhalingsketen CANDIDATE +en Abnormal adiponectin level HP:0030684 rdfs:label nl Afwijkend adiponectine niveau CANDIDATE +en Abnormal adipose tissue morphology HP:0009124 rdfs:label nl Afwijkende vetweefsel morfologie CANDIDATE +en Abnormal affect HP:5200261 rdfs:label nl Abnormaal affect OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Abnormal aggressive, impulsive or violent behavior HP:0006919 rdfs:label nl Abnormaal agressief, impulsief of gewelddadig gedrag CANDIDATE +en Abnormal aldolase level HP:0012400 rdfs:label nl Afwijking van aldolase niveau CANDIDATE +en Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth HP:0000692 IAO:0000115 nl Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth NOT_TRANSLATED +en Abnormal alpha granule content HP:0012527 rdfs:label nl Afwijkende inhoud van alfa-granules CANDIDATE +en Abnormal alpha granule distribution HP:0012525 rdfs:label nl Afwijkende alfa-granules distributie CANDIDATE +en Abnormal alpha granules HP:0012483 rdfs:label nl Afwijkende alfa-granules CANDIDATE +en Abnormal alpha-beta T cell morphology HP:0030333 rdfs:label nl Afwijkende alfa-beta T-cell morfologie CANDIDATE +en Abnormal alveolar macrophage morphology HP:0032984 rdfs:label nl Abnormal alveolar macrophage morphology NOT_TRANSLATED +en Abnormal alveolar type II pneumocyte morphology HP:0033245 rdfs:label nl Abnormal alveolar type II pneumocyte morphology NOT_TRANSLATED +en Abnormal alveolar volume HP:0033632 rdfs:label nl Abnormal alveolar volume NOT_TRANSLATED +en Abnormal amount of 3-methylhistidine in the urine HP:0410316 IAO:0000115 nl Abnormal amount of 3-methylhistidine in the urine NOT_TRANSLATED +en Abnormal amount of a protein that is normally present on the cell surface of lymphocytes HP:0031383 IAO:0000115 nl Abnormal amount of a protein that is normally present on the cell surface of lymphocytes NOT_TRANSLATED +en Abnormal amount of carbon dioxide in umbilical cord blood HP:0500258 IAO:0000115 nl Abnormal amount of carbon dioxide in umbilical cord blood NOT_TRANSLATED +en Abnormal amount of urate in the urine HP:0012610 IAO:0000115 nl Abnormal amount of urate in the urine NOT_TRANSLATED +en Abnormal amplitude of dark-adapted bright flash electroretinogram HP:0030478 rdfs:label nl Abnormal amplitude of dark-adapted bright flash electroretinogram NOT_TRANSLATED +en Abnormal amplitude of dark-adapted dim flash electroretinogram HP:0030476 rdfs:label nl Abnormal amplitude of dark-adapted dim flash electroretinogram NOT_TRANSLATED +en Abnormal amplitude of flash visual evoked potentials HP:0030462 rdfs:label nl Abnormal amplitude of flash visual evoked potentials NOT_TRANSLATED +en Abnormal amplitude of light-adapted flicker electroretinogram HP:0030479 rdfs:label nl Abnormal amplitude of light-adapted flicker electroretinogram NOT_TRANSLATED +en Abnormal amplitude of light-adapted single flash electroretinogram HP:0030481 rdfs:label nl Abnormal amplitude of light-adapted single flash electroretinogram NOT_TRANSLATED +en Abnormal amplitude of pattern electroretinogram HP:0030485 rdfs:label nl Abnormal amplitude of pattern electroretinogram NOT_TRANSLATED +en Abnormal amplitude of pattern onset/offset visual evoked potentials HP:0030457 rdfs:label nl Abnormal amplitude of pattern onset/offset visual evoked potentials NOT_TRANSLATED +en Abnormal amplitude of pattern reversal visual evoked potentials HP:0000650 rdfs:label nl Abnormale amplitude van patroon omkerende visuele opgewekte potentialen CANDIDATE +en Abnormal amplitude of the QRS complex of the electrocardiogram (EKG) HP:0025076 IAO:0000115 nl Abnormal amplitude of the QRS complex of the electrocardiogram (EKG) NOT_TRANSLATED +en Abnormal amygdala morphology HP:0033668 rdfs:label nl Abnormal amygdala morphology NOT_TRANSLATED +en Abnormal amyloid beta 40 peptide CSF concentration HP:0025686 rdfs:label nl Abnormal amyloid beta 40 peptide CSF concentration NOT_TRANSLATED +en Abnormal amyloid beta 42 peptide CSF concentration HP:0025683 rdfs:label nl Abnormal amyloid beta 42 peptide CSF concentration NOT_TRANSLATED +en Abnormal amyloid beta peptide CSF concentration HP:0025688 rdfs:label nl Abnormal amyloid beta peptide CSF concentration NOT_TRANSLATED +en Abnormal anatomic location of the anterior pituitary gland HP:0012731 IAO:0000115 nl Abnormal anatomic location of the anterior pituitary gland NOT_TRANSLATED +en Abnormal anatomic location of the heart HP:0004307 rdfs:label nl Afwijkende anatomische locatie van het hart CANDIDATE +en Abnormal anatomical location of the adrenal gland HP:0011742 IAO:0000115 nl Abnormal anatomical location of the adrenal gland NOT_TRANSLATED +en Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation HP:0100802 IAO:0000115 nl Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation NOT_TRANSLATED +en Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney HP:0033921 IAO:0000115 nl Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney NOT_TRANSLATED +en Abnormal angiostatin level HP:0031439 rdfs:label nl Afwijkende angiostatine niveau CANDIDATE +en Abnormal anterior chamber morphology HP:0000593 rdfs:label nl Afwijking van de voorste kamer CANDIDATE +en Abnormal anterior eye segment morphology HP:0004328 rdfs:label nl Afwijking van het anterieure segment van de oogbol CANDIDATE +en Abnormal anterior horn cell morphology HP:0006802 rdfs:label nl Afwijkende voorhoorncel morfologie CANDIDATE +en Abnormal antihelix morphology HP:0009738 rdfs:label nl Afwijking van de antihelix CANDIDATE +en Abnormal antitragus morphology HP:0009896 rdfs:label nl Afwijking van de anti-tragus CANDIDATE +en Abnormal antral follicle count HP:0033084 rdfs:label nl Abnormal antral follicle count NOT_TRANSLATED +en Abnormal aortic arch morphology HP:0012303 rdfs:label nl Afwijkende aortaboog morfologie CANDIDATE +en Abnormal aortic morphology HP:0001679 rdfs:label nl Afwijking van de aorta CANDIDATE +en Abnormal aortic physiology HP:0030964 rdfs:label nl Afwijkende fysiologie van aorta CANDIDATE +en Abnormal aortic valve cusp morphology HP:0031567 rdfs:label nl Afwijkende aortaklep cusp morfologie CANDIDATE +en Abnormal aortic valve morphology HP:0001646 rdfs:label nl Afwijking van de aortaklep CANDIDATE +en Abnormal aortic valve physiology HP:0031652 rdfs:label nl Afwijkende aortaklep fysiologie CANDIDATE +en Abnormal apoptosis HP:4000056 rdfs:label nl Abnormal apoptosis NOT_TRANSLATED +en Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin HP:0032016 IAO:0000115 nl Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin NOT_TRANSLATED +en Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident HP:0034374 IAO:0000115 nl Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident NOT_TRANSLATED +en Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age HP:0025705 IAO:0000115 nl Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age NOT_TRANSLATED +en Abnormal appendicular skeleton morphology HP:0011844 rdfs:label nl Afwijkende appendiculair skelet morfologie CANDIDATE +en Abnormal arachnoid mater morphology HP:0100700 rdfs:label nl Afwijking van de arachnoides CANDIDATE +en Abnormal arcuate artery endothelium morphology HP:0033901 rdfs:label nl Abnormal arcuate artery endothelium morphology NOT_TRANSLATED +en Abnormal arcuate artery intima/media morphology HP:0033886 rdfs:label nl Abnormal arcuate artery intima/media morphology NOT_TRANSLATED +en Abnormal arcuate artery lumen morphology HP:0033896 rdfs:label nl Abnormal arcuate artery lumen morphology NOT_TRANSLATED +en Abnormal arcuate artery morphology HP:0033837 rdfs:label nl Abnormal arcuate artery morphology NOT_TRANSLATED +en Abnormal arcuate vein intima/media morphology HP:0033879 rdfs:label nl Abnormal arcuate vein intima/media morphology NOT_TRANSLATED +en Abnormal arcuate vein lumen morphology HP:0033875 rdfs:label nl Abnormal arcuate vein lumen morphology NOT_TRANSLATED +en Abnormal arcuate vein morphology HP:0033853 rdfs:label nl Abnormal arcuate vein morphology NOT_TRANSLATED +en Abnormal areolar morphology HP:0032314 rdfs:label nl Abnormal areolar morphology NOT_TRANSLATED +en Abnormal arm span HP:0012769 rdfs:label nl Afwijkende spanwijdte CANDIDATE +en Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms HP:0012258 IAO:0000115 nl Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms NOT_TRANSLATED +en Abnormal arrangement of the structures of the motile cilium HP:0005938 IAO:0000115 nl Abnormal arrangement of the structures of the motile cilium NOT_TRANSLATED +en Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries HP:0033389 IAO:0000115 nl Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries NOT_TRANSLATED +en Abnormal arterial physiology HP:0025323 rdfs:label nl Afwijkende arteriële fysiologie CANDIDATE +en Abnormal aryepiglottic fold morphology HP:0008744 rdfs:label nl Afwijking van de aryepiglottische plooi CANDIDATE +en Abnormal ascending aorta morphology HP:0031784 rdfs:label nl Abnormal ascending aorta morphology NOT_TRANSLATED +en Abnormal astrocyte morphology HP:0100707 rdfs:label nl Afwijking van de astrocyten CANDIDATE +en Abnormal atrial arrangement HP:0011535 rdfs:label nl Afwijkende atriale configuratie CANDIDATE +en Abnormal atrial septum morphology HP:0011994 rdfs:label nl Afwijkende atriale septum morfologie CANDIDATE +en Abnormal atrioventricular conduction HP:0005150 rdfs:label nl Abnormale atrioventriculaire geleiding CANDIDATE +en Abnormal atrioventricular connection HP:0011546 rdfs:label nl Afwjkende atrioventriculaire verbinding CANDIDATE +en Abnormal atrioventricular valve morphology HP:0006705 rdfs:label nl Afwijkende atrioventriculaire klep morfologie CANDIDATE +en Abnormal atrioventricular valve physiology HP:0031650 rdfs:label nl Afwijkende atrioventriculaire klep fysiologie CANDIDATE +en Abnormal auditory evoked potentials HP:0006958 rdfs:label nl Afwijking van auditieve opgewekte potentialen CANDIDATE +en Abnormal automated kinetic perimetry test HP:0030594 rdfs:label nl Afwijkende geautomatiseerde kinetische perimetrie test CANDIDATE +en Abnormal autonomic nervous system morphology HP:0012331 rdfs:label nl Afwijking van autonome zenuwstelsel morfologie CANDIDATE +en Abnormal autonomic nervous system physiology HP:0012332 rdfs:label nl Afwijking van autonome zenuwstelsel fysiologie CANDIDATE +en Abnormal axial muscle morphology HP:0040286 rdfs:label nl Afwijking van axiale spieren CANDIDATE +en Abnormal axial skeleton morphology HP:0009121 rdfs:label nl Afwijkende axiale skelet morfologie CANDIDATE +en Abnormal axonemal organization of respiratory motile cilia HP:0012258 rdfs:label nl Abnormal axonemal organization of respiratory motile cilia NOT_TRANSLATED +en Abnormal basal ganglia MRI signal intensity HP:0012751 rdfs:label nl Afwijkende basale ganglia MRI signaal intensiteit CANDIDATE +en Abnormal basal ganglia morphology HP:0002134 rdfs:label nl Afwijking van de basale ganglia CANDIDATE +en Abnormal base excess HP:0032281 rdfs:label nl Abnormal base excess NOT_TRANSLATED +en Abnormal basophil count HP:0031806 rdfs:label nl Abnormal basophil count NOT_TRANSLATED +en Abnormal basophil morphology HP:0001912 rdfs:label nl Afwijking van de basofielen CANDIDATE +en Abnormal best corrected visual acuity test HP:0030534 rdfs:label nl Afwijkende best-gecorrigeerde visustest CANDIDATE +en Abnormal biliary tract morphology HP:0012440 rdfs:label nl Afwijkende galwegen morfologie CANDIDATE +en Abnormal biliary tract physiology HP:0012439 rdfs:label nl Afwijkende galwegen fysiologie CANDIDATE +en Abnormal biotinidase level HP:0410144 rdfs:label nl Abnormal biotinidase level NOT_TRANSLATED +en Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system HP:0005341 IAO:0000115 nl Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system NOT_TRANSLATED +en Abnormal bleeding HP:0001892 rdfs:label nl Abnormale bloeding CANDIDATE +en Abnormal bleeding inside the skull (cranium) of a fetus HP:0034208 IAO:0000115 nl Abnormal bleeding inside the skull (cranium) of a fetus NOT_TRANSLATED +en Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth HP:0011884 IAO:0000115 nl Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth NOT_TRANSLATED +en Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours HP:0040232 IAO:0000115 nl Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours NOT_TRANSLATED +en Abnormal blistering of the skin HP:0008066 rdfs:label nl Afwijkende blaarvorming van de huid CANDIDATE +en Abnormal blood 5-methyltetrahydrofolate level HP:0410216 rdfs:label nl Abnormal blood 5-methyltetrahydrofolate level NOT_TRANSLATED +en Abnormal blood carbon dioxide level HP:0500164 rdfs:label nl Abnormal blood carbon dioxide level NOT_TRANSLATED +en Abnormal blood cation concentration HP:0010929 rdfs:label nl Afwijking van kation homeostase CANDIDATE +en Abnormal blood chloride concentration HP:0011422 rdfs:label nl Afwijking van chloride homeostase CANDIDATE +en Abnormal blood folate concentration HP:0040087 rdfs:label nl Afwijking van foliumzuur in bloed CANDIDATE +en Abnormal blood gas level HP:0012415 rdfs:label nl Afwijkend bloedgas CANDIDATE +en Abnormal blood gas level in cord blood HP:0410211 rdfs:label nl Abnormal blood gas level in cord blood NOT_TRANSLATED +en Abnormal blood glucose concentration HP:0011015 rdfs:label nl Afwijkende bloed glucose concentratie CANDIDATE +en Abnormal blood inorganic cation concentration HP:0010927 rdfs:label nl Afwijking van divalente anorganische kation homeostase CANDIDATE +en Abnormal blood ion concentration HP:0003111 rdfs:label nl Afwijking in ion homeostase CANDIDATE +en Abnormal blood monovalent inorganic cation concentration HP:0010930 rdfs:label nl Afwijking van monovalente anorganische kation homeostase CANDIDATE +en Abnormal blood oxygen level HP:0500165 rdfs:label nl Abnormal blood oxygen level NOT_TRANSLATED +en Abnormal blood phosphate concentration HP:0100529 rdfs:label nl Afwijking van de fosfaathuishouding CANDIDATE +en Abnormal blood potassium concentration HP:0011042 rdfs:label nl Afwijking van kalium homeostase CANDIDATE +en Abnormal blood sodium concentration HP:0010931 rdfs:label nl Afwijking van natrium homeostase CANDIDATE +en Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes HP:0500020 IAO:0000115 nl Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes NOT_TRANSLATED +en Abnormal blood transition element cation concentration HP:0011030 rdfs:label nl Afwijking van overgangselement kation homeostase CANDIDATE +en Abnormal blood urea nitrogen concentration HP:0031970 rdfs:label nl Abnormal blood urea nitrogen concentration NOT_TRANSLATED +en Abnormal blood vessel morphology HP:0033353 rdfs:label nl Abnormal blood vessel morphology NOT_TRANSLATED +en Abnormal blood zinc concentration HP:0008277 rdfs:label nl Afwijking van zink homeostase CANDIDATE +en Abnormal bone collagen fibril morphology HP:0011862 rdfs:label nl Afwijkende bot collageen fibril morfologie CANDIDATE +en Abnormal bone ossification HP:0011849 rdfs:label nl Afwijkende bot ossificatie CANDIDATE +en Abnormal bone structure HP:0003330 rdfs:label nl Afwijkende botstructuur CANDIDATE +en Abnormal bone tissue formation (ossification) affecting the sacrum HP:0025370 IAO:0000115 nl Abnormal bone tissue formation (ossification) affecting the sacrum NOT_TRANSLATED +en Abnormal bowel sounds HP:0030142 rdfs:label nl Afwijkende darm geluiden CANDIDATE +en Abnormal brain FDG positron emission tomography HP:0012658 rdfs:label nl Afwijkende brein FDG-PET CANDIDATE +en Abnormal brain N-acetyl aspartate level by MRS HP:0025052 rdfs:label nl Afwijkend brein N-acetylaspartaat niveau met MRS CANDIDATE +en Abnormal brain choline level by MRS HP:0025047 rdfs:label nl Afwijkend brein choline niveau met MRS CANDIDATE +en Abnormal brain choline/creatine ratio by MRS HP:0012709 rdfs:label nl Afwijkende brein choline/creatine ratio met MRS CANDIDATE +en Abnormal brain creatine level by MRS HP:0025049 rdfs:label nl Afwijkend brein creatine niveau met MRS CANDIDATE +en Abnormal brain glutamine level by MRS HP:0034496 rdfs:label nl Abnormal brain glutamine level by MRS NOT_TRANSLATED +en Abnormal brain lactate level by MRS HP:0025045 rdfs:label nl Afwijkend brein lactaat niveau met MRS CANDIDATE +en Abnormal brain positron emission tomography HP:0012657 rdfs:label nl Afwijkende brein PET CANDIDATE +en Abnormal brainstem MRI signal intensity HP:0012747 rdfs:label nl Afwijkende hersenstam MRI signaal intensiteit CANDIDATE +en Abnormal brainstem morphology HP:0002363 rdfs:label nl Afwijking van de hersenstam morfologie CANDIDATE +en Abnormal brainstem white matter morphology HP:0012501 rdfs:label nl Afwijking van de hersenstam witte stof CANDIDATE +en Abnormal branching pattern of left aortic arch HP:0031055 rdfs:label nl Abnormal branching pattern of left aortic arch NOT_TRANSLATED +en Abnormal branching pattern of the aortic arch HP:0011587 rdfs:label nl Afwijkend vertakkingspatroon van aortaboog CANDIDATE +en Abnormal breast morphology HP:0031093 rdfs:label nl Afwijkende borst morfologie CANDIDATE +en Abnormal breast physiology HP:0031094 rdfs:label nl Afwijkende borst fysiologie CANDIDATE +en Abnormal breath sound HP:0030829 rdfs:label nl Afwijkend ademgeluid CANDIDATE +en Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds HP:0030831 IAO:0000115 nl Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds NOT_TRANSLATED +en Abnormal bronchial artery morphology HP:0033388 rdfs:label nl Abnormal bronchial artery morphology NOT_TRANSLATED +en Abnormal bronchoalveolar fluid protein level HP:0032975 rdfs:label nl Abnormal bronchoalveolar fluid protein level NOT_TRANSLATED +en Abnormal bronchoalveolar lavage fluid morphology HP:0032973 rdfs:label nl Abnormal bronchoalveolar lavage fluid morphology NOT_TRANSLATED +en Abnormal bronchus morphology HP:0025426 rdfs:label nl Afwijkende bronchus morfologie CANDIDATE +en Abnormal bronchus physiology HP:0025427 rdfs:label nl Afwijkende bronchus fysiologie CANDIDATE +en Abnormal buccal fat pad morphology HP:3000021 rdfs:label nl Abnormal buccal fat pad morphology NOT_TRANSLATED +en Abnormal buccal mucosa cell morphology HP:0031476 rdfs:label nl Afwijkende buccale mucosa cel morfologie CANDIDATE +en Abnormal buccal mucosa morphology HP:3000019 rdfs:label nl Afwijking van buccale mucosa CANDIDATE +en Abnormal bulbus cordis morphology HP:0032580 rdfs:label nl Abnormal bulbus cordis morphology NOT_TRANSLATED +en Abnormal cadiomyocyte dystrophin staining HP:0031339 rdfs:label nl Abnormal cadiomyocyte dystrophin staining NOT_TRANSLATED +en Abnormal calcification in the cardiovascular system HP:0011915 IAO:0000115 nl Abnormal calcification in the cardiovascular system NOT_TRANSLATED +en Abnormal calcification of a cardiac valve HP:0005146 IAO:0000115 nl Abnormal calcification of a cardiac valve NOT_TRANSLATED +en Abnormal calcification of the carpal bones HP:0009164 rdfs:label nl Afwijkende calcificatie van de carpale botten CANDIDATE +en Abnormal calcification of the mitral valve HP:0004382 IAO:0000115 nl Abnormal calcification of the mitral valve NOT_TRANSLATED +en Abnormal calcification of the vasculature HP:0004934 IAO:0000115 nl Abnormal calcification of the vasculature NOT_TRANSLATED +en Abnormal calcium-phosphate regulating hormone level HP:0100530 rdfs:label nl Afwijking van de calcium-fosfaathuishouding CANDIDATE +en Abnormal calvaria morphology HP:0002683 rdfs:label nl Afwijking van de calvaria CANDIDATE +en Abnormal capillary morphology HP:0025016 rdfs:label nl Afwijkende capillaire morfologie CANDIDATE +en Abnormal capillary physiology HP:0025018 rdfs:label nl Afwijkende capillaire fysiologie CANDIDATE +en Abnormal carbon dioxide level in cord blood HP:0500258 rdfs:label nl Abnormal carbon dioxide level in cord blood NOT_TRANSLATED +en Abnormal cardiac MRI HP:0500016 rdfs:label nl Afwijkende cardiale MRI CANDIDATE +en Abnormal cardiac atrial physiology HP:0025443 rdfs:label nl Afwijkende cardiaal atrium fysiologie CANDIDATE +en Abnormal cardiac atrium morphology HP:0005120 rdfs:label nl Abnormale cardiaal atrium morfologie CANDIDATE +en Abnormal cardiac biomarker test HP:0500020 rdfs:label nl Afwijkende cardiale biomarker test CANDIDATE +en Abnormal cardiac catheterization HP:0500017 rdfs:label nl Afwijkende hart catheterisatie CANDIDATE +en Abnormal cardiac exercise stress test HP:0500018 rdfs:label nl Afwijkende cardiale inspannings stresstest CANDIDATE +en Abnormal cardiac index HP:0033529 rdfs:label nl Abnormal cardiac index NOT_TRANSLATED +en Abnormal cardiac magnetic resonance imaging finding HP:4000001 rdfs:label nl Abnormal cardiac magnetic resonance imaging finding NOT_TRANSLATED +en Abnormal cardiac output HP:0033528 rdfs:label nl Abnormal cardiac output NOT_TRANSLATED +en Abnormal cardiac septum morphology HP:0001671 rdfs:label nl Afwijking van de cardiale septa CANDIDATE +en Abnormal cardiac test HP:0500015 rdfs:label nl Afwijkende cardiale test CANDIDATE +en Abnormal cardiac ventricle morphology HP:0001713 rdfs:label nl Afwijking van cardiale ventrikel CANDIDATE +en Abnormal cardiac ventricular function HP:0030872 rdfs:label nl Afwijkende cardiale ventriculaire functie CANDIDATE +en Abnormal cardiomyocyte connexin43 staining HP:0031337 rdfs:label nl Abnormal cardiomyocyte connexin43 staining NOT_TRANSLATED +en Abnormal cardiomyocyte mitochondrial morphology HP:0031335 rdfs:label nl Abnormal cardiomyocyte mitochondrial morphology NOT_TRANSLATED +en Abnormal cardiomyocyte morphology HP:0031331 rdfs:label nl Afwijkende cardiomyocyt morfologie CANDIDATE +en Abnormal cardiomyocyte plakoglobin staining HP:0031338 rdfs:label nl Abnormal cardiomyocyte plakoglobin staining NOT_TRANSLATED +en Abnormal cardiovascular system physiology HP:0011025 rdfs:label nl Afwijking van fysiologie cardiovasculaire systeem CANDIDATE +en Abnormal carotid artery morphology HP:0005344 rdfs:label nl Afwijkende arteria carotis morfologie CANDIDATE +en Abnormal carpal morphology HP:0001191 rdfs:label nl Afwijking van de carpale botten CANDIDATE +en Abnormal cartilage collagen HP:0008271 rdfs:label nl Afwijkend kraakbeen collageen CANDIDATE +en Abnormal cartilage matrix HP:0008178 rdfs:label nl Afwijkende kraakbeen matrix CANDIDATE +en Abnormal cartilage morphology HP:0002763 rdfs:label nl Abnormale kraakbeen morfologie CANDIDATE +en Abnormal caudate nucleus morphology HP:0002339 rdfs:label nl Afwijking van de nucleus caudatus CANDIDATE +en Abnormal celiac artery morphology HP:0012326 rdfs:label nl Afwijkende truncus coeliacus morfologie CANDIDATE +en Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers HP:0003713 IAO:0000115 nl Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers NOT_TRANSLATED +en Abnormal cell morphology HP:0025461 rdfs:label nl Afwijkende cel morfologie CANDIDATE +en Abnormal cell proliferation HP:0031377 rdfs:label nl Afwijkende cel proliferatie CANDIDATE +en Abnormal cellular composition of bronchoalveolar fluid HP:0032974 rdfs:label nl Abnormal cellular composition of bronchoalveolar fluid NOT_TRANSLATED +en Abnormal cellular immune system morphology HP:0010987 rdfs:label nl Afwijking van het cellulaire immuunsysteem CANDIDATE +en Abnormal cellular phenotype HP:0025354 rdfs:label nl Afwijkend cellulair fenotype CANDIDATE +en Abnormal cellular physiology HP:0011017 rdfs:label nl Afwijking van cel fysiologie CANDIDATE +en Abnormal cementum morphology HP:0100717 rdfs:label nl Afwijking van het cement CANDIDATE +en Abnormal central microtubular pair morphology of respiratory motile cilia HP:0012260 rdfs:label nl Abnormal central microtubular pair morphology of respiratory motile cilia NOT_TRANSLATED +en Abnormal central motor function HP:0011442 rdfs:label nl Afwijking van de centrale motorische functie CANDIDATE +en Abnormal central response of multifocal electroretinogram HP:0030488 rdfs:label nl Afwijkende centrale respons op multifocaal elektroretinogram CANDIDATE +en Abnormal central sensory function HP:0011730 rdfs:label nl Afwijking van de centrale sensorische functie CANDIDATE +en Abnormal cerebellar cortex morphology HP:0031422 rdfs:label nl Abnormal cerebellar cortex morphology NOT_TRANSLATED +en Abnormal cerebellar peduncle morphology HP:0011931 rdfs:label nl Afwijking van de cerebellaire peduncle CANDIDATE +en Abnormal cerebellar vermis morphology HP:0002334 rdfs:label nl Afwijking van de vermis CANDIDATE +en Abnormal cerebellum morphology HP:0001317 rdfs:label nl Afwijking van het cerebellum CANDIDATE +en Abnormal cerebral artery morphology HP:0009145 rdfs:label nl Afwijkende cerebrale arterie morfologie CANDIDATE +en Abnormal cerebral cortex morphology HP:0002538 rdfs:label nl Afwijking van de cerebrale cortex CANDIDATE +en Abnormal cerebral morphology HP:0002060 rdfs:label nl Afwijking van het cerebrum CANDIDATE +en Abnormal cerebral subcortex morphology HP:0010993 rdfs:label nl Afwijking van de cerebrale subcortex CANDIDATE +en Abnormal cerebral vascular morphology HP:0100659 rdfs:label nl Afwijking van de cerebraal vaatstelsel CANDIDATE +en Abnormal cerebral vein morphology HP:0012480 rdfs:label nl Afwijking van cerebrale aderen CANDIDATE +en Abnormal cerebral venous sinus morphology HP:0033723 rdfs:label nl Abnormal cerebral venous sinus morphology NOT_TRANSLATED +en Abnormal cerebral ventricle morphology HP:0002118 rdfs:label nl Afwijking van de cerebrale ventrikels CANDIDATE +en Abnormal cerebral white matter morphology HP:0002500 rdfs:label nl Afwijking van de cerebrale witte stof CANDIDATE +en Abnormal cerebrospinal fluid morphology HP:0002921 rdfs:label nl Afwijking van de liquor CANDIDATE +en Abnormal cerumen color HP:0030790 rdfs:label nl Afwijkende cerumen kleur CANDIDATE +en Abnormal cervical curvature HP:0005905 rdfs:label nl Afwijkende cervicale curvatuur CANDIDATE +en Abnormal cervical myelogram HP:0005788 rdfs:label nl Abnormaal cervicaal myelogram CANDIDATE +en Abnormal cervical spine morphology HP:0046508 rdfs:label nl Abnormal cervical spine morphology NOT_TRANSLATED +en Abnormal cheek morphology HP:0004426 rdfs:label nl Afwijking van de wang CANDIDATE +en Abnormal chondrocyte morphology HP:0032929 rdfs:label nl Abnormal chondrocyte morphology NOT_TRANSLATED +en Abnormal chorion morphology HP:0033042 rdfs:label nl Abnormal chorion morphology NOT_TRANSLATED +en Abnormal chorioretinal morphology HP:0000532 rdfs:label nl Chorioretinale abnormaliteit CANDIDATE +en Abnormal choroid morphology HP:0000610 rdfs:label nl Afwijking van het vaatvlies CANDIDATE +en Abnormal choroid plexus morphology HP:0007376 rdfs:label nl Afwijking van de plexus choroideus CANDIDATE +en Abnormal chromosome morphology HP:0031411 rdfs:label nl Abnormale chromosoom morfologie CANDIDATE +en Abnormal chylomicron concentration HP:0031887 rdfs:label nl Abnormal chylomicron concentration NOT_TRANSLATED +en Abnormal ciliary body morphology HP:0012776 rdfs:label nl Afwijking van het straalvormig lichaam CANDIDATE +en Abnormal ciliary motility HP:0012262 rdfs:label nl Afwijkende trilhaar beweeglijkheid CANDIDATE +en Abnormal circle of Willis morphology HP:0012518 rdfs:label nl Afwijking van de cirkel van Willis CANDIDATE +en Abnormal circulating 18-hydroxycorticosterone level HP:0020198 rdfs:label nl Abnormal circulating 18-hydroxycorticosterone level NOT_TRANSLATED +en Abnormal circulating C-peptide concentration HP:0030794 rdfs:label nl Afwijkend C-peptide niveau CANDIDATE +en Abnormal circulating C-reactive protein concentration HP:0032436 rdfs:label nl Abnormal circulating C-reactive protein concentration NOT_TRANSLATED +en Abnormal circulating GABA concentration HP:0034025 rdfs:label nl Abnormal circulating GABA concentration NOT_TRANSLATED +en Abnormal circulating IgA level HP:0410240 rdfs:label nl Abnormal circulating IgA level NOT_TRANSLATED +en Abnormal circulating IgD level HP:0410244 rdfs:label nl Abnormal circulating IgD level NOT_TRANSLATED +en Abnormal circulating IgE level HP:0410241 rdfs:label nl Abnormal circulating IgE level NOT_TRANSLATED +en Abnormal circulating IgG level HP:0410242 rdfs:label nl Abnormal circulating IgG level NOT_TRANSLATED +en Abnormal circulating IgM level HP:0410243 rdfs:label nl Abnormal circulating IgM level NOT_TRANSLATED +en Abnormal circulating T4 concentration HP:0031505 rdfs:label nl Afwijkend circulerend thyroxine niveau CANDIDATE +en Abnormal circulating acetylcarnitine concentration HP:0012071 rdfs:label nl Afwijking van het acetyl-l-carnitine metabolisme CANDIDATE +en Abnormal circulating adrenocorticotropin concentration HP:0011043 rdfs:label nl Afwijking van circulerend corticotropine niveau CANDIDATE +en Abnormal circulating alanine concentration HP:0010916 rdfs:label nl Afwijking van alanine metabolisme CANDIDATE +en Abnormal circulating albumin concentration HP:0012116 rdfs:label nl Afwijkend albumine niveau CANDIDATE +en Abnormal circulating aldosterone HP:0040085 rdfs:label nl Afwijking van circulerend aldosteron niveau CANDIDATE +en Abnormal circulating amino acid concentration HP:0003112 rdfs:label nl Afwijking in circulerend aminozuur niveau CANDIDATE +en Abnormal circulating amino sulfonic acid concentration HP:0500180 rdfs:label nl Abnormal circulating amino sulfonic acid concentration NOT_TRANSLATED +en Abnormal circulating amylase concentration HP:0410282 rdfs:label nl Abnormal circulating amylase concentration NOT_TRANSLATED +en Abnormal circulating androgen level HP:0030347 rdfs:label nl Afwijkend circulerende androgeen niveau CANDIDATE +en Abnormal circulating androstenedione concentration HP:0033811 rdfs:label nl Abnormal circulating androstenedione concentration NOT_TRANSLATED +en Abnormal circulating antimullerian hormone concentration HP:0031101 rdfs:label nl Afwijkend Anti-Müller-Hormoon niveau CANDIDATE +en Abnormal circulating apolipoprotein concentration HP:0025201 rdfs:label nl Afwijkend apolipoproteïne niveau CANDIDATE +en Abnormal circulating arginine concentration HP:0010909 rdfs:label nl Afwijking van arginine metabolisme CANDIDATE +en Abnormal circulating aromatic amino acid concentration HP:0004338 rdfs:label nl Afwijking van metabolisme van de aromatische aminozuur familie CANDIDATE +en Abnormal circulating asparagine concentration HP:0500155 rdfs:label nl Abnormal circulating asparagine concentration NOT_TRANSLATED +en Abnormal circulating aspartate family amino acid concentration HP:0010899 rdfs:label nl Afwijking van aspartaat familie aminozuur metabolisme CANDIDATE +en Abnormal circulating aspartic acid concentration HP:0500158 rdfs:label nl Abnormal circulating aspartic acid concentration NOT_TRANSLATED +en Abnormal circulating beta globulin level HP:0025465 rdfs:label nl Afwijkend circulerend beta globuline niveau CANDIDATE +en Abnormal circulating beta-C-terminal telopeptide concentration HP:0031424 rdfs:label nl Afwijkend circulerend beta-C-terminaal telopeptide niveau CANDIDATE +en Abnormal circulating bilirubin concentration HP:0033479 rdfs:label nl Abnormal circulating bilirubin concentration NOT_TRANSLATED +en Abnormal circulating biopterin concentration HP:0040210 rdfs:label nl Afwijkend niveau van biopterine CANDIDATE +en Abnormal circulating branched chain amino acid concentration HP:0010892 rdfs:label nl Afwijking van vertakte keten aminozuur familie metabolisme CANDIDATE +en Abnormal circulating calcium concentration HP:0004363 rdfs:label nl Afwijking van calcium homeostase CANDIDATE +en Abnormal circulating carbohydrate concentration HP:0011013 rdfs:label nl Afwijking van het koolhydraat metabolisme/homeostase CANDIDATE +en Abnormal circulating carboxylic acid concentration HP:0004354 rdfs:label nl Afwijking van carbonzuur metabolisme CANDIDATE +en Abnormal circulating carnitine concentration HP:0010967 rdfs:label nl Afwijking van carnitine metabolisme CANDIDATE +en Abnormal circulating carnosine concentration HP:0500160 rdfs:label nl Abnormal circulating carnosine concentration NOT_TRANSLATED +en Abnormal circulating ceruloplasmin concentration HP:0033144 rdfs:label nl Abnormal circulating ceruloplasmin concentration NOT_TRANSLATED +en Abnormal circulating cholesterol concentration HP:0003107 rdfs:label nl Afwijking van het metabolisme van cholesterol CANDIDATE +en Abnormal circulating citrulline concentration HP:0011965 rdfs:label nl Afwijking van citrulline metabolisme CANDIDATE +en Abnormal circulating collagen degradation product concentration HP:0033386 rdfs:label nl Abnormal circulating collagen degradation product concentration NOT_TRANSLATED +en Abnormal circulating complement factor H related protein 1 concentration HP:0033298 rdfs:label nl Abnormal circulating complement factor H related protein 1 concentration NOT_TRANSLATED +en Abnormal circulating copper concentration HP:0010836 rdfs:label nl Afwijking van koper homeostase CANDIDATE +en Abnormal circulating corticosterone level HP:0012112 rdfs:label nl Afwijking van circulerend corticosteron-niveau CANDIDATE +en Abnormal circulating creatine concentration HP:0012113 rdfs:label nl Afwijking van creatine metabolisme CANDIDATE +en Abnormal circulating creatine kinase concentration HP:0040081 rdfs:label nl Afwijkende concentratie van creatine kinase in bloed CANDIDATE +en Abnormal circulating creatinine concentration HP:0012100 rdfs:label nl Afwijkend circulerend niveau van creatinine CANDIDATE +en Abnormal circulating cysteine concentration HP:0010918 rdfs:label nl Afwijking van cysteïne metabolisme CANDIDATE +en Abnormal circulating dehydroepiandrosterone concentration HP:0500022 rdfs:label nl Afwijkend serum dehydroepiandrosteron niveau CANDIDATE +en Abnormal circulating deoxycorticosterone level HP:0031186 rdfs:label nl Abnormal circulating deoxycorticosterone level NOT_TRANSLATED +en Abnormal circulating dicarboxylic acid concentration HP:0010995 rdfs:label nl Afwijking van dicarboxylic zuur metabolisme CANDIDATE +en Abnormal circulating eicosanoid concentration HP:0030361 rdfs:label nl Afwijking van eicosanoïden metabolisme CANDIDATE +en Abnormal circulating erythropoietin concentration HP:0034442 rdfs:label nl Abnormal circulating erythropoietin concentration NOT_TRANSLATED +en Abnormal circulating estrogen level HP:0025132 rdfs:label nl Afwijkend circulerend oestrogeen niveau CANDIDATE +en Abnormal circulating ethanolamine concentration HP:0500249 rdfs:label nl Abnormal circulating ethanolamine concentration NOT_TRANSLATED +en Abnormal circulating fatty-acid anion concentration HP:0010966 rdfs:label nl Afwijking van vetzuuranion metabolisme CANDIDATE +en Abnormal circulating fatty-acid concentration HP:0004359 rdfs:label nl Afwijking van vetzuur metabolisme CANDIDATE +en Abnormal circulating ferritin concentration HP:0040133 rdfs:label nl Afwijkend serum ferritine CANDIDATE +en Abnormal circulating fetuin A concentration HP:0033305 rdfs:label nl Abnormal circulating fetuin A concentration NOT_TRANSLATED +en Abnormal circulating follicle-stimulating hormone concentration HP:0030346 rdfs:label nl Afwijkend circulerend follikelstimulerend hormoon niveau CANDIDATE +en Abnormal circulating free T3 concentration HP:0032209 rdfs:label nl Abnormal circulating free T3 concentration NOT_TRANSLATED +en Abnormal circulating free T4 concentration HP:0033076 rdfs:label nl Abnormal circulating free T4 concentration NOT_TRANSLATED +en Abnormal circulating free fatty acid concentration HP:0040300 rdfs:label nl Afwijkend circulerend vrije vetzuur niveau CANDIDATE +en Abnormal circulating gastrin concentration HP:0500166 rdfs:label nl Abnormal circulating gastrin concentration NOT_TRANSLATED +en Abnormal circulating globulin concentration HP:0032179 rdfs:label nl Abnormal circulating globulin concentration NOT_TRANSLATED +en Abnormal circulating glutamate concentration HP:0500148 rdfs:label nl Abnormal circulating glutamate concentration NOT_TRANSLATED +en Abnormal circulating glutamine concentration HP:0010903 rdfs:label nl Afwijking van glutamine metabolisme CANDIDATE +en Abnormal circulating glutamine family amino acid concentration HP:0010902 rdfs:label nl Afwijking van glutamine aminozuur familie metabolisme CANDIDATE +en Abnormal circulating glycerol level HP:0031795 rdfs:label nl Abnormal circulating glycerol level NOT_TRANSLATED +en Abnormal circulating glycine concentration HP:0010895 rdfs:label nl Afwijking van glycine metabolisme CANDIDATE +en Abnormal circulating gonadotropin concentration HP:0030338 rdfs:label nl Afwijkend circulerend gonadotrofinen niveau CANDIDATE +en Abnormal circulating heparan sulfate level HP:0410341 rdfs:label nl Abnormal circulating heparan sulfate level NOT_TRANSLATED +en Abnormal circulating histidine concentration HP:0010904 rdfs:label nl Afwijking van histidine metabolisme CANDIDATE +en Abnormal circulating homocysteine concentration HP:0010919 rdfs:label nl Afwijking van het metabolisme van homocysteïne CANDIDATE +en Abnormal circulating hormone concentration HP:0003117 rdfs:label nl Afwijking van circulerend hormoon niveau CANDIDATE +en Abnormal circulating hyaluronic acid concentration HP:0031210 rdfs:label nl Afwijkende circulerende hyaluronzuur concentratie CANDIDATE +en Abnormal circulating inhibin level HP:0031099 rdfs:label nl Afwijkend circulerend inhibine niveau CANDIDATE +en Abnormal circulating insulin concentration HP:0040214 rdfs:label nl Afwijkend insuline niveau CANDIDATE +en Abnormal circulating interferon concentration HP:0030354 rdfs:label nl Afwijkend serum interferon niveau CANDIDATE +en Abnormal circulating interferon-gamma concentration HP:0030355 rdfs:label nl Afwijkend serum interferon-gamma niveau CANDIDATE +en Abnormal circulating interleukin 10 concentration HP:0034162 rdfs:label nl Abnormal circulating interleukin 10 concentration NOT_TRANSLATED +en Abnormal circulating interleukin 17A concentration HP:0034176 rdfs:label nl Abnormal circulating interleukin 17A concentration NOT_TRANSLATED +en Abnormal circulating interleukin 21 concentration HP:0034164 rdfs:label nl Abnormal circulating interleukin 21 concentration NOT_TRANSLATED +en Abnormal circulating interleukin 22 concentration HP:0034167 rdfs:label nl Abnormal circulating interleukin 22 concentration NOT_TRANSLATED +en Abnormal circulating interleukin 23 concentration HP:0034170 rdfs:label nl Abnormal circulating interleukin 23 concentration NOT_TRANSLATED +en Abnormal circulating interleukin 27 concentration HP:0034173 rdfs:label nl Abnormal circulating interleukin 27 concentration NOT_TRANSLATED +en Abnormal circulating interleukin 9 concentration HP:0034160 rdfs:label nl Abnormal circulating interleukin 9 concentration NOT_TRANSLATED +en Abnormal circulating interleukin concentration HP:0030782 rdfs:label nl Abnormal circulating interleukin concentration NOT_TRANSLATED +en Abnormal circulating isoleucine concentration HP:0010912 rdfs:label nl Afwijking van isoleucine metabolisme CANDIDATE +en Abnormal circulating keto acid concentration HP:0033435 rdfs:label nl Abnormal circulating keto acid concentration NOT_TRANSLATED +en Abnormal circulating leptin concentration HP:0004361 rdfs:label nl Afwijking van circulerend leptine niveau CANDIDATE +en Abnormal circulating leucine concentration HP:0004357 rdfs:label nl Afwijking van leucine metabolisme CANDIDATE +en Abnormal circulating lipid concentration HP:0003119 rdfs:label nl Afwijking van vet metabolisme CANDIDATE +en Abnormal circulating lipoprotein lipase concentration HP:0033477 rdfs:label nl Abnormal circulating lipoprotein lipase concentration NOT_TRANSLATED +en Abnormal circulating long-chain fatty-acid concentration HP:0010964 rdfs:label nl Afwijking van lange-keten vetzuur metabolisme CANDIDATE +en Abnormal circulating luteinizing hormone concentration HP:0030345 rdfs:label nl Afwijkend circulerend niveau van het luteïniserend hormoon CANDIDATE +en Abnormal circulating lysine concentration HP:0010908 rdfs:label nl Afwijking van lysine metabolisme CANDIDATE +en Abnormal circulating metabolite concentration HP:0032180 rdfs:label nl Abnormal circulating metabolite concentration NOT_TRANSLATED +en Abnormal circulating methionine concentration HP:0010901 rdfs:label nl Afwijking van methionine metabolisme CANDIDATE +en Abnormal circulating monocarboxylic acid concentration HP:0010996 rdfs:label nl Afwijking van monocarboxylic zuur metabolisme CANDIDATE +en Abnormal circulating neopterin concentration HP:0040206 rdfs:label nl Afwijkend niveau van neopterine CANDIDATE +en Abnormal circulating nicotinurate concentration HP:0410205 rdfs:label nl Abnormal circulating nicotinurate concentration NOT_TRANSLATED +en Abnormal circulating nitrogen compound concentration HP:0004364 rdfs:label nl Afwijking in stikstof homeostase CANDIDATE +en Abnormal circulating non-proteinogenic amino acid concentration HP:0033109 rdfs:label nl Abnormal circulating non-proteinogenic amino acid concentration NOT_TRANSLATED +en Abnormal circulating nucleobase concentration HP:0010932 rdfs:label nl Afwijking van het nucleobase metabolisme CANDIDATE +en Abnormal circulating organic amino compound concentration HP:0033405 rdfs:label nl Abnormal circulating organic amino compound concentration NOT_TRANSLATED +en Abnormal circulating ornithine concentration HP:0012025 rdfs:label nl Afwijking van ornithine metabolisme CANDIDATE +en Abnormal circulating osteocalcin level HP:0031427 rdfs:label nl Afwijkend circulerend osteocalcin niveau CANDIDATE +en Abnormal circulating phenylalanine concentration HP:0010893 rdfs:label nl Afwijking van fenylalanine metabolisme CANDIDATE +en Abnormal circulating phospholipid concentration HP:0040176 rdfs:label nl Afwijkend niveau van fosfolipiden CANDIDATE +en Abnormal circulating phytanic acid concentration HP:0010965 rdfs:label nl Afwijking van fytaanzuur metabolisme CANDIDATE +en Abnormal circulating polysaccharide concentration HP:0011012 rdfs:label nl Afwijking van polysaccharide metabolisme CANDIDATE +en Abnormal circulating porphyrin concentration HP:0010472 rdfs:label nl Afwijking in de heem biosynthetische pathway CANDIDATE +en Abnormal circulating prealbumin concentration HP:0033450 rdfs:label nl Abnormal circulating prealbumin concentration NOT_TRANSLATED +en Abnormal circulating pregnenolone concentration HP:0031187 rdfs:label nl Afwijking van circulerend pregnenolon niveau CANDIDATE +en Abnormal circulating progesterone level HP:0031212 rdfs:label nl Afwijkend circulerend progesteron niveau CANDIDATE +en Abnormal circulating proline concentration HP:0010907 rdfs:label nl Afwijking van proline metabolisme CANDIDATE +en Abnormal circulating properdin level HP:0031300 rdfs:label nl Afwijkend circulerend properdine niveau CANDIDATE +en Abnormal circulating prostaglandin circulation HP:0011023 rdfs:label nl Afwijking van prostaglandine metabolisme CANDIDATE +en Abnormal circulating protein concentration HP:0010876 rdfs:label nl Afwijking van circulerend eiwit niveau CANDIDATE +en Abnormal circulating proteinogenic amino acid concentration HP:0033107 rdfs:label nl Abnormal circulating proteinogenic amino acid concentration NOT_TRANSLATED +en Abnormal circulating proteinogenic amino acid derivative concentration HP:0033108 rdfs:label nl Abnormal circulating proteinogenic amino acid derivative concentration NOT_TRANSLATED +en Abnormal circulating purine concentration HP:0004352 rdfs:label nl Afwijking van purine-metabolisme CANDIDATE +en Abnormal circulating pyrimidine concentration HP:0004353 rdfs:label nl Afwijking van pyrimidine metabolisme CANDIDATE +en Abnormal circulating pyruvate family amino acid concentration HP:0010915 rdfs:label nl Afwijking van pyruvaat aminozuur familie metabolisme CANDIDATE +en Abnormal circulating renin HP:0040084 rdfs:label nl Afwijking van circulerend renine niveau CANDIDATE +en Abnormal circulating sarcosine concentration HP:0010898 rdfs:label nl Afwijking van sarcosine metabolisme CANDIDATE +en Abnormal circulating selenium concentration HP:0031903 rdfs:label nl Abnormal circulating selenium concentration NOT_TRANSLATED +en Abnormal circulating serine concentration HP:0012278 rdfs:label nl Afwijking van serine metabolisme CANDIDATE +en Abnormal circulating serine family amino acid concentration HP:0010894 rdfs:label nl Afwijking van serine familie aminozuur metabolisme CANDIDATE +en Abnormal circulating sex hormone concentration HP:0033799 rdfs:label nl Abnormal circulating sex hormone concentration NOT_TRANSLATED +en Abnormal circulating short-chain fatty-acid concentration HP:0033147 rdfs:label nl Abnormal circulating short-chain fatty-acid concentration NOT_TRANSLATED +en Abnormal circulating sulfur amino acid concentration HP:0004339 rdfs:label nl Afwijking van zwavel aminozuur metabolisme CANDIDATE +en Abnormal circulating testosterone concentration HP:0030087 rdfs:label nl Afwijkend serum testosteron niveau CANDIDATE +en Abnormal circulating threonine concentration HP:0010900 rdfs:label nl Afwijking van threonine metabolisme CANDIDATE +en Abnormal circulating thromboxane concentration HP:0030389 rdfs:label nl Afwijking van tromboxaan metabolisme CANDIDATE +en Abnormal circulating thyroglobulin level HP:0025483 rdfs:label nl Afwijkend circulerend thyroglobuline niveau CANDIDATE +en Abnormal circulating thyroid hormone concentration HP:0031508 rdfs:label nl Afwijkend schildklierhormoon niveau CANDIDATE +en Abnormal circulating transferrin concentration HP:0032385 rdfs:label nl Abnormal circulating transferrin concentration NOT_TRANSLATED +en Abnormal circulating tryptophan concentration HP:0004365 rdfs:label nl Afwijking van tryptofaan metabolisme CANDIDATE +en Abnormal circulating tyrosine concentration HP:0010917 rdfs:label nl Afwijking van het metabolisme van tyrosine CANDIDATE +en Abnormal circulating unsaturated fatty acid concentration HP:0011022 rdfs:label nl Afwijking van onverzadigd vetzuur metabolisme CANDIDATE +en Abnormal circulating valine concentration HP:0010914 rdfs:label nl Afwijking van valine metabolisme CANDIDATE +en Abnormal circulating vitamin B6 level HP:0032476 rdfs:label nl Abnormal circulating vitamin B6 level NOT_TRANSLATED +en Abnormal clavicle morphology HP:0000889 rdfs:label nl Afwijking van het sleutelbeen CANDIDATE +en Abnormal closure or blockage of the vas deferens HP:0030997 IAO:0000115 nl Abnormal closure or blockage of the vas deferens NOT_TRANSLATED +en Abnormal coagulation factor V activity HP:0031899 rdfs:label nl Abnormal coagulation factor V activity NOT_TRANSLATED +en Abnormal coccyx morphology HP:0008519 rdfs:label nl Afwijking van het coccyx CANDIDATE +en Abnormal cochlea morphology HP:0000375 rdfs:label nl Afwijking van het cochlea CANDIDATE +en Abnormal cognition with deficits in thinking, reasoning, or remembering HP:0100543 IAO:0000115 nl Abnormal cognition with deficits in thinking, reasoning, or remembering NOT_TRANSLATED +en Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal HP:0032453 IAO:0000115 nl Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal NOT_TRANSLATED +en Abnormal columella morphology HP:0009929 rdfs:label nl Afwijking van de columella CANDIDATE +en Abnormal common carotid artery morphology HP:0430021 rdfs:label nl Afwijkende ateria carotis communis morfologie CANDIDATE +en Abnormal common tendinous ring morphology HP:0030671 rdfs:label nl Abnormal common tendinous ring morphology NOT_TRANSLATED +en Abnormal complex N-glycan level HP:0410351 rdfs:label nl Abnormal complex N-glycan level NOT_TRANSLATED +en Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease HP:0033386 IAO:0000115 nl Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease NOT_TRANSLATED +en Abnormal concentration of 1-methylhistidine in the urine HP:0410313 IAO:0000115 nl Abnormal concentration of 1-methylhistidine in the urine NOT_TRANSLATED +en Abnormal concentration of acylcarnitine in the urine HP:0500170 rdfs:label nl Abnormal concentration of acylcarnitine in the urine NOT_TRANSLATED +en Abnormal concentration of amyloid in the cerebrospinal fluid (CSF) HP:0030860 IAO:0000115 nl Abnormal concentration of amyloid in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Abnormal concentration of biopterin in the cerebrospinal fluid (CSF) HP:0040207 IAO:0000115 nl Abnormal concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Abnormal concentration of dopamine in the cerebrospinal fluid (CSF) HP:0012654 IAO:0000115 nl Abnormal concentration of dopamine in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Abnormal concentration of feces as assessed by the total number of solute particles per kilogram HP:0032485 IAO:0000115 nl Abnormal concentration of feces as assessed by the total number of solute particles per kilogram NOT_TRANSLATED +en Abnormal concentration of hexanoylglycine in the urine HP:0500254 IAO:0000115 nl Abnormal concentration of hexanoylglycine in the urine NOT_TRANSLATED +en Abnormal concentration of isobutyrylglycine in the urine HP:0500256 IAO:0000115 nl Abnormal concentration of isobutyrylglycine in the urine NOT_TRANSLATED +en Abnormal concentration of lactate in the cerebrospinal fluid HP:0030085 IAO:0000115 nl Abnormal concentration of lactate in the cerebrospinal fluid NOT_TRANSLATED +en Abnormal concentration of neopterin in the cerebrospinal fluid (CSF) HP:0040203 IAO:0000115 nl Abnormal concentration of neopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Abnormal concentration of sebacic acid in the urine HP:0500251 IAO:0000115 nl Abnormal concentration of sebacic acid in the urine NOT_TRANSLATED +en Abnormal concentration of sulfate in the urine HP:0012612 IAO:0000115 nl Abnormal concentration of sulfate in the urine NOT_TRANSLATED +en Abnormal concentration of urate in the cerebrospinal fluid (CSF) HP:0500117 IAO:0000115 nl Abnormal concentration of urate in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Abnormal concentration of urobilinogen present in the stool HP:0500114 IAO:0000115 nl Abnormal concentration of urobilinogen present in the stool NOT_TRANSLATED +en Abnormal conduction in all three divisions of the intraventricular conducting tissue HP:0011715 IAO:0000115 nl Abnormal conduction in all three divisions of the intraventricular conducting tissue NOT_TRANSLATED +en Abnormal confrontational visual field test HP:0030589 rdfs:label nl Afwijkend confronterend gezichtsveldonderzoek CANDIDATE +en Abnormal conjugate eye movement HP:0000549 rdfs:label nl Abnormale geconjugeerde oogbeweging CANDIDATE +en Abnormal conjunctiva morphology HP:0000502 rdfs:label nl Afwijking van de conjunctiva CANDIDATE +en Abnormal connection of the cardiac segments HP:0011545 rdfs:label nl Afwijkende verbinding van de cardiale segmenten CANDIDATE +en Abnormal consumption behavior HP:0040202 rdfs:label nl Afwijkend consumptie gedrag CANDIDATE +en Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption HP:0030082 IAO:0000115 nl Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption NOT_TRANSLATED +en Abnormal conus terminalis morphology HP:0031938 rdfs:label nl Abnormal conus terminalis morphology NOT_TRANSLATED +en Abnormal coordination of muscles involved in speech HP:0001350 IAO:0000115 nl Abnormal coordination of muscles involved in speech NOT_TRANSLATED +en Abnormal cord blood measurement HP:0410210 rdfs:label nl Abnormal cord blood measurement NOT_TRANSLATED +en Abnormal core 1 O-glycan level HP:0410359 rdfs:label nl Abnormal core 1 O-glycan level NOT_TRANSLATED +en Abnormal cornea morphology HP:0000481 rdfs:label nl Afwijking van de cornea CANDIDATE +en Abnormal corneal endothelium morphology HP:0011488 rdfs:label nl Afwijking van corneaal endotheel CANDIDATE +en Abnormal corneal epithelium morphology HP:0011495 rdfs:label nl Afwijking van corneaal epitheel CANDIDATE +en Abnormal corneal limbus morphology HP:0025348 rdfs:label nl Afwijking van de corneale limbus CANDIDATE +en Abnormal corneal reflex HP:0034251 rdfs:label nl Abnormal corneal reflex NOT_TRANSLATED +en Abnormal corneal stroma morphology HP:0011492 rdfs:label nl Afwijking van corneale stroma CANDIDATE +en Abnormal coronary artery course HP:0011686 rdfs:label nl Afwijkend verloop van coronairarterie CANDIDATE +en Abnormal coronary artery morphology HP:0006704 rdfs:label nl Afwijkende coronairarterie morfologie CANDIDATE +en Abnormal coronary artery origin HP:0011636 rdfs:label nl Afwijkende oorsprong van coronairarterie CANDIDATE +en Abnormal coronary artery physiology HP:0025496 rdfs:label nl Afwijkende coronairarterie fysiologie CANDIDATE +en Abnormal coronary sinus morphology HP:0011642 rdfs:label nl Afwijkende sinus coronarius morfologie CANDIDATE +en Abnormal corpus callosum morphology HP:0001273 rdfs:label nl Afwijking van het corpus callosum CANDIDATE +en Abnormal corpus cavernosum morphology HP:0100623 rdfs:label nl Afwijking van het corpus cavernosum CANDIDATE +en Abnormal corpus striatum morphology HP:0010994 rdfs:label nl Afwijking van het striatum CANDIDATE +en Abnormal cortical bone morphology HP:0003103 rdfs:label nl Abnormale corticaal bot morfologie CANDIDATE +en Abnormal cortical gyration HP:0002536 rdfs:label nl Abnormale corticale gyratie CANDIDATE +en Abnormal cortical peritubular capillary lumen morphology HP:0033863 rdfs:label nl Abnormal cortical peritubular capillary lumen morphology NOT_TRANSLATED +en Abnormal cortical peritubular capillary morphology HP:0033860 rdfs:label nl Abnormal cortical peritubular capillary morphology NOT_TRANSLATED +en Abnormal cortical radial artery endothelium morphology HP:0033952 rdfs:label nl Abnormal cortical radial artery endothelium morphology NOT_TRANSLATED +en Abnormal cortical radial artery intima/media morphology HP:0033888 rdfs:label nl Abnormal cortical radial artery intima/media morphology NOT_TRANSLATED +en Abnormal cortical radial artery lumen morphology HP:0033884 rdfs:label nl Abnormal cortical radial artery lumen morphology NOT_TRANSLATED +en Abnormal cortical radial artery morphology HP:0033883 rdfs:label nl Abnormal cortical radial artery morphology NOT_TRANSLATED +en Abnormal cranial ganglion morphology HP:0410016 rdfs:label nl Afwijking van craniaal ganglion CANDIDATE +en Abnormal cranial nerve morphology HP:0001291 rdfs:label nl Afwijking van de hersenzenuwen CANDIDATE +en Abnormal cranial nerve physiology HP:0031910 rdfs:label nl Abnormal cranial nerve physiology NOT_TRANSLATED +en Abnormal cricoid cartilage morphology HP:3000038 rdfs:label nl Afwijking van cricoïd kraakbeen CANDIDATE +en Abnormal cry HP:0025429 rdfs:label nl Afwijkende kreet CANDIDATE +en Abnormal cutaneous collagen fibril morphology HP:0031512 rdfs:label nl Afwijkende cutane collageen fibril morfologie CANDIDATE +en Abnormal cutaneous elastic fiber morphology HP:0025082 rdfs:label nl Afwijkende cutane elastische vezels morfologie CANDIDATE +en Abnormal cystatin C level HP:0032996 rdfs:label nl Abnormal cystatin C level NOT_TRANSLATED +en Abnormal cytokine signaling HP:0031406 rdfs:label nl Afwijkende cytokine signalering CANDIDATE +en Abnormal dark-adapted bright flash electroretinogram HP:0030470 rdfs:label nl Abnormal dark-adapted bright flash electroretinogram NOT_TRANSLATED +en Abnormal dark-adapted dim flash electroretinogram HP:0030471 rdfs:label nl Abnormal dark-adapted dim flash electroretinogram NOT_TRANSLATED +en Abnormal dark-adapted electroretinogram HP:0030469 rdfs:label nl Abnormal dark-adapted electroretinogram NOT_TRANSLATED +en Abnormal decrease in diastolic blood pressure HP:0500104 IAO:0000115 nl Abnormal decrease in diastolic blood pressure NOT_TRANSLATED +en Abnormal decrease in systolic blood pressure HP:0500105 IAO:0000115 nl Abnormal decrease in systolic blood pressure NOT_TRANSLATED +en Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation HP:0033753 IAO:0000115 nl Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation NOT_TRANSLATED +en Abnormal decrease in the width of the mediastinum HP:0034502 IAO:0000115 nl Abnormal decrease in the width of the mediastinum NOT_TRANSLATED +en Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp) HP:0025551 IAO:0000115 nl Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp) NOT_TRANSLATED +en Abnormal delayed hypersensitivity skin test HP:0002963 rdfs:label nl Abnormaal vertraagde overgevoeligheid huidtest CANDIDATE +en Abnormal delivery HP:0001787 rdfs:label nl Abnormale bevalling CANDIDATE +en Abnormal deltoid tuberosity morphology HP:0003889 rdfs:label nl Afwijking van de tuberositas deltoidea CANDIDATE +en Abnormal dendritic cell count HP:0020178 rdfs:label nl Abnormal dendritic cell count NOT_TRANSLATED +en Abnormal dense granule content HP:0012529 rdfs:label nl Abnormal dense granule content NOT_TRANSLATED +en Abnormal dense granules HP:0012484 rdfs:label nl Abnormal dense granules NOT_TRANSLATED +en Abnormal dense tubular system HP:0012491 rdfs:label nl Afwijkend dense tubular system CANDIDATE +en Abnormal dental enamel morphology HP:0000682 rdfs:label nl Afwijking van tandglazuur CANDIDATE +en Abnormal dental pulp morphology HP:0006479 rdfs:label nl Afwijking van het tandmerg CANDIDATE +en Abnormal dental root morphology HP:0006486 rdfs:label nl Afwijking van de tandheelkundige wortel CANDIDATE +en Abnormal dentate nucleus morphology HP:0100321 rdfs:label nl Afwijking van de nucleus dentatus CANDIDATE +en Abnormal dentin morphology HP:0010299 rdfs:label nl Afwijking van dentine CANDIDATE +en Abnormal deposition of periosteal bone HP:0030314 IAO:0000115 nl Abnormal deposition of periosteal bone NOT_TRANSLATED +en Abnormal depth of the S wave in lead V5 of the electrocardiogram HP:0032197 IAO:0000115 nl Abnormal depth of the S wave in lead V5 of the electrocardiogram NOT_TRANSLATED +en Abnormal dermatoglyphics HP:0007477 rdfs:label nl Afwijkende dermatoglyfen CANDIDATE +en Abnormal dermoepidermal hemidesmosome morphology HP:0032449 rdfs:label nl Abnormal dermoepidermal hemidesmosome morphology NOT_TRANSLATED +en Abnormal dermoepidermal junction morphology HP:0031538 rdfs:label nl Afwijkende dermo-epidermale kruising morfologie CANDIDATE +en Abnormal descending aorta morphology HP:0031934 rdfs:label nl Abnormal descending aorta morphology NOT_TRANSLATED +en Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin HP:0007700 IAO:0000115 nl Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin NOT_TRANSLATED +en Abnormal development of large mammary glands in males resulting in breast enlargement HP:0000771 IAO:0000115 nl Abnormal development of large mammary glands in males resulting in breast enlargement NOT_TRANSLATED +en Abnormal development of the adrenal gland HP:0008216 IAO:0000115 nl Abnormal development of the adrenal gland NOT_TRANSLATED +en Abnormal development of the choroid and retina HP:0007731 IAO:0000115 nl Abnormal development of the choroid and retina NOT_TRANSLATED +en Abnormal development of the neurohypophysis during embryonic growth and development HP:0011753 IAO:0000115 nl Abnormal development of the neurohypophysis during embryonic growth and development NOT_TRANSLATED +en Abnormal diaphysis morphology HP:0000940 rdfs:label nl Abnormale diafyse morfologie CANDIDATE +en Abnormal difference in size between the left and right lateral cerebral ventricles HP:0100960 IAO:0000115 nl Abnormal difference in size between the left and right lateral cerebral ventricles NOT_TRANSLATED +en Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep HP:0031355 IAO:0000115 nl Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep NOT_TRANSLATED +en Abnormal diffusion weighted cerebral MRI morphology HP:0032615 rdfs:label nl Abnormal diffusion weighted cerebral MRI morphology NOT_TRANSLATED +en Abnormal digit morphology HP:0011297 rdfs:label nl Afwijking van vinger/teen CANDIDATE +en Abnormal dilatation of the iris HP:0011499 IAO:0000115 nl Abnormal dilatation of the iris NOT_TRANSLATED +en Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid HP:0006521 IAO:0000115 nl Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid NOT_TRANSLATED +en Abnormal direction of ventricular apex HP:0011600 rdfs:label nl Afwijkende richting van ventriculaire apex CANDIDATE +en Abnormal displacement or malposition of the anus HP:0004397 IAO:0000115 nl Abnormal displacement or malposition of the anus NOT_TRANSLATED +en Abnormal distal phalanx morphology of finger HP:0009832 rdfs:label nl Afwijking van de distale falanx van vinger CANDIDATE +en Abnormal distal ulnar epiphysis morphology HP:0010600 rdfs:label nl Afwijking van de distale epifyse van de ulna CANDIDATE +en Abnormal distribution of CD56 bright/dim natural killer cells HP:0031410 rdfs:label nl Abnormal distribution of CD56 bright/dim natural killer cells NOT_TRANSLATED +en Abnormal distribution of cell junction proteins in buccal mucosal cells HP:0410023 rdfs:label nl Abnormal distribution of cell junction proteins in buccal mucosal cells NOT_TRANSLATED +en Abnormal distribution of retinal arterioles and venules HP:0007815 rdfs:label nl Afwijkende verdeling van retinale arterioles en venules CANDIDATE +en Abnormal doll's eye reflex HP:0032100 rdfs:label nl Abnormal doll's eye reflex NOT_TRANSLATED +en Abnormal drinking behavior HP:0030082 rdfs:label nl Afwijkend drinkgedrag CANDIDATE +en Abnormal drug response HP:0020169 rdfs:label nl Abnormal drug response NOT_TRANSLATED +en Abnormal duodenum morphology HP:0002246 rdfs:label nl Afwijking van het duodenum CANDIDATE +en Abnormal dura mater morphology HP:0010652 rdfs:label nl Afwijking van de dura mater CANDIDATE +en Abnormal ear morphology HP:0031703 rdfs:label nl Afwijkende oor morfologie CANDIDATE +en Abnormal ear physiology HP:0031704 rdfs:label nl Afwijkende oor fysiologie CANDIDATE +en Abnormal earlobe morphology HP:0000363 rdfs:label nl Afwijking van de oorlel CANDIDATE +en Abnormal eating behavior HP:0100738 rdfs:label nl Abnormaal eet gedrag CANDIDATE +en Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption HP:0100738 IAO:0000115 nl Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption NOT_TRANSLATED +en Abnormal ejaculation HP:0012875 rdfs:label nl Afwijkende ejaculatie CANDIDATE +en Abnormal elasticity of skin HP:0010647 rdfs:label nl Abnormale elasticiteit van de huid CANDIDATE +en Abnormal elbow metaphysis morphology HP:0003949 rdfs:label nl Afwijking van de metafysen van de elleboog CANDIDATE +en Abnormal electrooculogram HP:0030454 rdfs:label nl Afwijkend electro-oculogram CANDIDATE +en Abnormal electrophysiology of sinoatrial node origin HP:0011702 rdfs:label nl Afwijkende electrofysiologie van sinoatriale knoop oorsprong CANDIDATE +en Abnormal electroretinogram HP:0000512 rdfs:label nl Abnormaal elektroretinogram CANDIDATE +en Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum HP:0005758 IAO:0000115 nl Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum NOT_TRANSLATED +en Abnormal embryonic development HP:0033334 rdfs:label nl Abnormal embryonic development NOT_TRANSLATED +en Abnormal embryonic development of the parathyroid gland HP:0011768 IAO:0000115 nl Abnormal embryonic development of the parathyroid gland NOT_TRANSLATED +en Abnormal emotion/affect behavior HP:0100851 rdfs:label nl Abnormaal emotioneel/affectief gedrag CANDIDATE +en Abnormal enchondral ossification HP:0003336 rdfs:label nl Abnormale enchondrale ossificatie CANDIDATE +en Abnormal endocardium morphology HP:0004306 rdfs:label nl Afwijkende endocard morfologie CANDIDATE +en Abnormal endocrine morphology HP:0031071 rdfs:label nl Afwijkende endocriene morfologie CANDIDATE +en Abnormal endocrine physiology HP:0031072 rdfs:label nl Afwijkende endocriene fysiologie CANDIDATE +en Abnormal endometrium morphology HP:0030126 rdfs:label nl Afwijking van het endometrium CANDIDATE +en Abnormal energy expenditure HP:0012338 rdfs:label nl Afwijkend energieverbruik CANDIDATE +en Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible) HP:0030793 IAO:0000115 nl Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible) NOT_TRANSLATED +en Abnormal enlargement of the urinary bladder HP:0008635 IAO:0000115 nl Abnormal enlargement of the urinary bladder NOT_TRANSLATED +en Abnormal enzyme/coenzyme activity HP:0012379 rdfs:label nl Abnormale enzym/coenzym activiteit CANDIDATE +en Abnormal eosinophil count HP:0020064 rdfs:label nl Abnormal eosinophil count NOT_TRANSLATED +en Abnormal eosinophil morphology HP:0001879 rdfs:label nl Afwijking van de eosinofielen CANDIDATE +en Abnormal epidermal morphology HP:0011124 rdfs:label nl Afwijking van epidermale morfologie CANDIDATE +en Abnormal epidermis stratum granulosum morphology HP:0033806 rdfs:label nl Abnormal epidermis stratum granulosum morphology NOT_TRANSLATED +en Abnormal epididymis morphology HP:0009714 rdfs:label nl Afwijking van de epididymis CANDIDATE +en Abnormal epiglottis morphology HP:0005483 rdfs:label nl Afwijking van de epiglottis CANDIDATE +en Abnormal epiphyseal ossification HP:0010656 rdfs:label nl Afwijkende epifysaire ossificatie CANDIDATE +en Abnormal epiphysis morphology HP:0005930 rdfs:label nl Afwijking van morfologie van epifyse CANDIDATE +en Abnormal epiphysis morphology of the phalanges of the hand HP:0005920 rdfs:label nl Afwijking van de epifysen van falangen van hand CANDIDATE +en Abnormal erythrocyte enzyme level HP:0030272 rdfs:label nl Afwijjkende erytrocyt enzym activiteit CANDIDATE +en Abnormal erythrocyte morphology HP:0001877 rdfs:label nl Abnormale morfologie van de erytrocyten CANDIDATE +en Abnormal erythrocyte physiology HP:0020054 rdfs:label nl Abnormal erythrocyte physiology NOT_TRANSLATED +en Abnormal erythrocyte sedimentation rate HP:0025021 rdfs:label nl Afwijkende bezinkingssnelheid van de erytrocyten CANDIDATE +en Abnormal erythroid lineage cell morphology HP:0012130 rdfs:label nl Afwijkende erytroïde cellijn morfologie CANDIDATE +en Abnormal esophagus morphology HP:0002031 rdfs:label nl Afwijking van de morfologie van de oesofagus CANDIDATE +en Abnormal esophagus physiology HP:0025270 rdfs:label nl Afwijking van de fysiologie van de oesofagus CANDIDATE +en Abnormal esterified to free carnitine ratio HP:0033502 rdfs:label nl Abnormal esterified to free carnitine ratio NOT_TRANSLATED +en Abnormal ethmoid bone morphology HP:0430005 rdfs:label nl Afwijking van os ethmoidale CANDIDATE +en Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather HP:0000975 IAO:0000115 nl Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather NOT_TRANSLATED +en Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers) comprising abnormalities of quantity, range, context-appropriateness, and quality HP:4000087 IAO:0000115 nl Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers) comprising abnormalities of quantity, range, context-appropriateness, and quality NOT_TRANSLATED +en Abnormal external genitalia HP:0000811 rdfs:label nl Abnormale externe genitaliën CANDIDATE +en Abnormal external nose morphology HP:0010938 rdfs:label nl Afwijking van de externe neus CANDIDATE +en Abnormal exteroceptive sensation HP:0033747 rdfs:label nl Abnormal exteroceptive sensation NOT_TRANSLATED +en Abnormal extraocular muscle physiology HP:0025590 rdfs:label nl Afwijkende extraoculaire spier fysiologie CANDIDATE +en Abnormal eye contact behavior HP:0034435 rdfs:label nl Abnormal eye contact behavior NOT_TRANSLATED +en Abnormal eye morphology HP:0012372 rdfs:label nl Afwijkende oog morfologie CANDIDATE +en Abnormal eye physiology HP:0012373 rdfs:label nl Afwijkinde oog fysiologie CANDIDATE +en Abnormal eyebrow morphology HP:0000534 rdfs:label nl Afwijking van de wenkbrauw CANDIDATE +en Abnormal eyelash morphology HP:0000499 rdfs:label nl Afwijking van de wimpers CANDIDATE +en Abnormal eyelid morphology HP:0000492 rdfs:label nl Afwijking van het ooglid CANDIDATE +en Abnormal eyelid movement HP:0031785 rdfs:label nl Abnormal eyelid movement NOT_TRANSLATED +en Abnormal eyelid physiology HP:0031879 rdfs:label nl Abnormal eyelid physiology NOT_TRANSLATED +en Abnormal facial artery morphology HP:3000024 rdfs:label nl Afwijkende arteria facialis morfologie CANDIDATE +en Abnormal facial expression HP:0005346 rdfs:label nl Afwijkende faciale expressie CANDIDATE +en Abnormal facial expression use HP:4000087 rdfs:label nl Abnormal facial expression use NOT_TRANSLATED +en Abnormal facial shape HP:0001999 rdfs:label nl Abnormale vorm van het gezicht CANDIDATE +en Abnormal facial skeleton morphology HP:0011821 rdfs:label nl Afwijking van faciaal skelet CANDIDATE +en Abnormal facial vein morphology HP:3000043 rdfs:label nl Afwijkende faciale ader morfologie CANDIDATE +en Abnormal facility in opposing the shoulders HP:0005259 rdfs:label nl Abnormal facility in opposing the shoulders NOT_TRANSLATED +en Abnormal factor IX activity HP:0033062 rdfs:label nl Abnormal factor IX activity NOT_TRANSLATED +en Abnormal factor VIII activity HP:0030976 rdfs:label nl Afwijkende activiteit van factor VIII CANDIDATE +en Abnormal fallopian tube morphology HP:0011027 rdfs:label nl Afwijking van de tuba uterina CANDIDATE +en Abnormal fat accumulation in the kidneys HP:0000799 IAO:0000115 nl Abnormal fat accumulation in the kidneys NOT_TRANSLATED +en Abnormal fear/anxiety-related behavior HP:0100852 rdfs:label nl Abnormaal angstig gedrag CANDIDATE +en Abnormal fecal osmolality HP:0032485 rdfs:label nl Abnormal fecal osmolality NOT_TRANSLATED +en Abnormal fecal pH HP:0032488 rdfs:label nl Abnormal fecal pH NOT_TRANSLATED +en Abnormal female meiosis HP:0033338 rdfs:label nl Abnormal female meiosis NOT_TRANSLATED +en Abnormal female reproductive system physiology HP:0030012 rdfs:label nl Afwijking van vrouwelijk reproductieve systeem fysiologie CANDIDATE +en Abnormal femoral head morphology HP:0003368 rdfs:label nl Afwijking van de femurkop CANDIDATE +en Abnormal femoral metaphysis morphology HP:0006489 rdfs:label nl Afwijking van de femorale metafyse CANDIDATE +en Abnormal femoral neck morphology HP:0003367 rdfs:label nl Afwijking van de femurhals CANDIDATE +en Abnormal femoral neck/head morphology HP:0003366 rdfs:label nl Afwijking van de femurhals of femurkop CANDIDATE +en Abnormal femoral torsion HP:0031069 rdfs:label nl Afwijkende femorale torsie CANDIDATE +en Abnormal fetal cardiovascular morphology HP:0010948 rdfs:label nl Afwijking van het foetale cardiovasculaire systeem CANDIDATE +en Abnormal fetal cardiovascular physiology HP:0034190 rdfs:label nl Abnormal fetal cardiovascular physiology NOT_TRANSLATED +en Abnormal fetal central nervous system morphology HP:0034206 rdfs:label nl Abnormal fetal central nervous system morphology NOT_TRANSLATED +en Abnormal fetal gastrointestinal system morphology HP:0034207 rdfs:label nl Abnormal fetal gastrointestinal system morphology NOT_TRANSLATED +en Abnormal fetal genitourinary system morphology HP:0034242 rdfs:label nl Abnormal fetal genitourinary system morphology NOT_TRANSLATED +en Abnormal fetal heart outflow tract HP:4000143 rdfs:label nl Abnormal fetal heart outflow tract NOT_TRANSLATED +en Abnormal fetal long-bone echogenicity HP:0034072 rdfs:label nl Abnormal fetal long-bone echogenicity NOT_TRANSLATED +en Abnormal fetal morphology HP:0034058 rdfs:label nl Abnormal fetal morphology NOT_TRANSLATED +en Abnormal fetal nasal bone visualization HP:0025705 rdfs:label nl Abnormal fetal nasal bone visualization NOT_TRANSLATED +en Abnormal fetal physiology HP:0034059 rdfs:label nl Abnormal fetal physiology NOT_TRANSLATED +en Abnormal fetal pulmonary morphology HP:0034243 rdfs:label nl Abnormal fetal pulmonary morphology NOT_TRANSLATED +en Abnormal fetal skeletal morphology HP:0025662 rdfs:label nl Abnormal fetal skeletal morphology NOT_TRANSLATED +en Abnormal fetal skin morphology HP:0025723 rdfs:label nl Abnormal fetal skin morphology NOT_TRANSLATED +en Abnormal fifth cranial nerve morphology HP:0010824 rdfs:label nl Afwijking van de vijfde hersenzenuw CANDIDATE +en Abnormal fifth cranial nerve physiology HP:0031911 rdfs:label nl Abnormal fifth cranial nerve physiology NOT_TRANSLATED +en Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately HP:4000001 IAO:0000115 nl Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately NOT_TRANSLATED +en Abnormal finger flexion creases HP:0006143 rdfs:label nl Afwijkende vinger flexie plooien CANDIDATE +en Abnormal finger phalanx morphology HP:0005918 rdfs:label nl Afwijking van falanx van vinger CANDIDATE +en Abnormal fingernail morphology HP:0001231 rdfs:label nl Afwijking van de vingernagels CANDIDATE +en Abnormal fingertip morphology HP:0001211 rdfs:label nl Afwijking van de vingertoppen CANDIDATE +en Abnormal flash visual evoked potentials HP:0007928 rdfs:label nl Abnormal flash visual evoked potentials NOT_TRANSLATED +en Abnormal flat nail HP:0030803 IAO:0000115 nl Abnormal flat nail NOT_TRANSLATED +en Abnormal flatness (decreased height) of epiphyses HP:0003071 IAO:0000115 nl Abnormal flatness (decreased height) of epiphyses NOT_TRANSLATED +en Abnormal flow cytometry test result HP:0031550 rdfs:label nl Abnormal flow cytometry test result NOT_TRANSLATED +en Abnormal foot bone ossification HP:0010675 rdfs:label nl Abnormale voet bot ossificatie CANDIDATE +en Abnormal foot morphology HP:0001760 rdfs:label nl Afwijking van de voet CANDIDATE +en Abnormal foramen magnum morphology HP:0002699 rdfs:label nl Afwijking van het foramen magnum CANDIDATE +en Abnormal forearm bone morphology HP:0040072 rdfs:label nl Afwijking van bot van onderarm CANDIDATE +en Abnormal forearm morphology HP:0002973 rdfs:label nl Afwijking van de onderarm CANDIDATE +en Abnormal forebrain morphology HP:0100547 rdfs:label nl Afwijking van de morfologie van het voorbrein CANDIDATE +en Abnormal form of the progenitor cells committed to the erythroid lineage HP:0025034 IAO:0000115 nl Abnormal form of the progenitor cells committed to the erythroid lineage NOT_TRANSLATED +en Abnormal form of the vertebral bodies HP:0003312 rdfs:label nl Afwijkende vorm van de wervellichamen CANDIDATE +en Abnormal formation of new bone on the surface of a bone of the hand HP:0004276 IAO:0000115 nl Abnormal formation of new bone on the surface of a bone of the hand NOT_TRANSLATED +en Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes HP:0001036 IAO:0000115 nl Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes NOT_TRANSLATED +en Abnormal four chamber view of the fetal heart HP:4000105 rdfs:label nl Abnormal four chamber view of the fetal heart NOT_TRANSLATED +en Abnormal fourth ventricle morphology HP:0010950 rdfs:label nl Afwijking van het vierde ventrikel CANDIDATE +en Abnormal foveal morphology HP:0000493 rdfs:label nl Afwijking van de fovea CANDIDATE +en Abnormal foveal morphology on macular OCT HP:0030613 rdfs:label nl Afwijkende foveale morfologie op macula OCT CANDIDATE +en Abnormal foveal pit on macular OCT HP:0030622 rdfs:label nl Afwijkende foveale pit op macula OCT CANDIDATE +en Abnormal frontal bone morphology HP:0430000 rdfs:label nl Afwijking van os frontale CANDIDATE +en Abnormal fucosylation of O-linked protein glycosylation HP:0012359 rdfs:label nl Afwijkende fucosylatie van O-glycosylatie CANDIDATE +en Abnormal fucosylation of protein N-linked glycosylation HP:0012352 rdfs:label nl Afwijkende fucosylatie van N-glycosylatie CANDIDATE +en Abnormal full-field electroretinogram HP:0030466 rdfs:label nl Abnormal full-field electroretinogram NOT_TRANSLATED +en Abnormal function of a sphincter of the urinary bladder HP:0002839 IAO:0000115 nl Abnormal function of a sphincter of the urinary bladder NOT_TRANSLATED +en Abnormal function of the left ventricule during left ventricular relaxation and filling HP:0025168 IAO:0000115 nl Abnormal function of the left ventricule during left ventricular relaxation and filling NOT_TRANSLATED +en Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid HP:0000124 IAO:0000115 nl Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid NOT_TRANSLATED +en Abnormal functional residual capacity HP:0033749 rdfs:label nl Abnormal functional residual capacity NOT_TRANSLATED +en Abnormal functionality of the cardiovascular system HP:0011025 IAO:0000115 nl Abnormal functionality of the cardiovascular system NOT_TRANSLATED +en Abnormal functionality of the fetal cardiovascular system HP:0034190 IAO:0000115 nl Abnormal functionality of the fetal cardiovascular system NOT_TRANSLATED +en Abnormal functionality of the gastrointestinal tract HP:0012719 IAO:0000115 nl Abnormal functionality of the gastrointestinal tract NOT_TRANSLATED +en Abnormal fundus autofluorescence imaging HP:0030602 rdfs:label nl Abnormal fundus autofluorescence imaging NOT_TRANSLATED +en Abnormal fundus fluorescein angiography HP:0030604 rdfs:label nl Afwijkende fundus fluoresceïne-angiografie CANDIDATE +en Abnormal fundus morphology HP:0001098 rdfs:label nl Afwijking van de maagwand CANDIDATE +en Abnormal gallbladder morphology HP:0012437 rdfs:label nl Afwijkende galblaas morfologie CANDIDATE +en Abnormal gallbladder physiology HP:0012438 rdfs:label nl Afwijkende galblaas fysiologie CANDIDATE +en Abnormal gametogenesis HP:0033337 rdfs:label nl Abnormal gametogenesis NOT_TRANSLATED +en Abnormal gamma-glutamyltransferase level HP:0034444 rdfs:label nl Abnormal gamma-glutamyltransferase level NOT_TRANSLATED +en Abnormal ganglion morphology HP:0410014 rdfs:label nl Afwijking van ganglion CANDIDATE +en Abnormal gastric mucosa morphology HP:0004295 rdfs:label nl Afwijking van het maagslijmvlies CANDIDATE +en Abnormal gastrointestinal motility HP:0030895 rdfs:label nl Afwijkende gastro-intestinale motiliteit CANDIDATE +en Abnormal gastrointestinal transit time HP:0030896 rdfs:label nl Afwijking van gastro-intestinale doorlooptijd CANDIDATE +en Abnormal gastrointestinal vascular morphology HP:0004296 rdfs:label nl Afwijking van gastro-intestinale vasculatuur CANDIDATE +en Abnormal geniohyoid muscle morphology HP:3000046 rdfs:label nl Afwijking van musculus geniohyoideus CANDIDATE +en Abnormal genital pigmentation HP:0012293 rdfs:label nl Afwijkende genitale pigmentatie CANDIDATE +en Abnormal germ cell morphology HP:0012862 rdfs:label nl Afwijkende kiemcel morfologie CANDIDATE +en Abnormal gesture use HP:4000090 rdfs:label nl Abnormal gesture use NOT_TRANSLATED +en Abnormal glial cell morphology HP:0100705 rdfs:label nl Afwijking van de gliale cellen CANDIDATE +en Abnormal globus pallidus morphology HP:0002453 rdfs:label nl Abnormale globus pallidus morfologie CANDIDATE +en Abnormal glomerular basement membrane morphology HP:0033282 rdfs:label nl Abnormal glomerular basement membrane morphology NOT_TRANSLATED +en Abnormal glomerular basement membrane texture HP:0033486 rdfs:label nl Abnormal glomerular basement membrane texture NOT_TRANSLATED +en Abnormal glomerular capillary lumen morphology HP:0033267 rdfs:label nl Abnormal glomerular capillary lumen morphology NOT_TRANSLATED +en Abnormal glomerular capillary morphology HP:0025006 rdfs:label nl Afwijkende glomerulaire capillaire morfologie CANDIDATE +en Abnormal glomerular endothelial cell morphology HP:0033272 rdfs:label nl Abnormal glomerular endothelial cell morphology NOT_TRANSLATED +en Abnormal glomerular filtration rate HP:0012212 rdfs:label nl Afwijkende glomerulaire filtratiesnelheid CANDIDATE +en Abnormal glomerular mesangial cellularity HP:0033231 rdfs:label nl Abnormal glomerular mesangial cellularity NOT_TRANSLATED +en Abnormal glomerular mesangial matrix morphology HP:0033232 rdfs:label nl Abnormal glomerular mesangial matrix morphology NOT_TRANSLATED +en Abnormal glomerular mesangium morphology HP:0001966 rdfs:label nl Mesangiale afwijking CANDIDATE +en Abnormal glomerular parietal epithelial cell morphology HP:0033223 rdfs:label nl Abnormal glomerular parietal epithelial cell morphology NOT_TRANSLATED +en Abnormal glomerular visceral epithelial cell morphology HP:0031265 rdfs:label nl Afwijkende podocyt morfologie CANDIDATE +en Abnormal glossopharyngeal nerve morphology HP:3000047 rdfs:label nl Morfologische afwijking van de nervus glossopharyngeus CANDIDATE +en Abnormal glucagon level HP:0030687 rdfs:label nl Afwijkend glucagon niveau CANDIDATE +en Abnormal glucose homeostasis HP:0011014 rdfs:label nl Afwijkende glucose homeostase CANDIDATE +en Abnormal glucose-6-phosphate dehydrogenase level HP:0410176 rdfs:label nl Abnormal glucose-6-phosphate dehydrogenase level NOT_TRANSLATED +en Abnormal glucose-6-phosphate dehydrogenase level in blood HP:0410177 rdfs:label nl Abnormal glucose-6-phosphate dehydrogenase level in blood NOT_TRANSLATED +en Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot HP:0410180 rdfs:label nl Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot NOT_TRANSLATED +en Abnormal glucose-6-phosphate dehydrogenase level in leukocytes HP:0410183 rdfs:label nl Abnormal glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED +en Abnormal glucose-6-phosphate dehydrogenase level in red blood cells HP:0410184 rdfs:label nl Abnormal glucose-6-phosphate dehydrogenase level in red blood cells NOT_TRANSLATED +en Abnormal glucose-6-phosphate dehydrogenase level in tissue HP:0410185 rdfs:label nl Abnormal glucose-6-phosphate dehydrogenase level in tissue NOT_TRANSLATED +en Abnormal glycosphingolipid metabolism HP:0004343 rdfs:label nl Afwijking van het glycosfingolipide metabolisme CANDIDATE +en Abnormal glycosylation HP:0012345 rdfs:label nl Afwijkende glycosylatie CANDIDATE +en Abnormal gonadotropin-releasing hormone concentration HP:0500012 rdfs:label nl Afwijking van gonadotropin-releasing hormoon niveau CANDIDATE +en Abnormal granulocyte count HP:0032309 rdfs:label nl Abnormal granulocyte count NOT_TRANSLATED +en Abnormal granulocyte morphology HP:0001911 rdfs:label nl Afwijking van de granulocyten CANDIDATE +en Abnormal granulocytopoietic cell morphology HP:0012135 rdfs:label nl Afwijkende granulocytopoietische cel morfologie CANDIDATE +en Abnormal great auricular nerve morphology HP:3000048 rdfs:label nl Afwijkende nervus auricularis magnus morfologie CANDIDATE +en Abnormal greater palatine artery morphology HP:3000049 rdfs:label nl Afwijkende arteria palatina major morfologie CANDIDATE +en Abnormal greater sciatic notch morphology HP:0010456 rdfs:label nl Afwijking van de incisura ischiadica major CANDIDATE +en Abnormal growth hormone level HP:0032367 rdfs:label nl Abnormal growth hormone level NOT_TRANSLATED +en Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix HP:0012889 IAO:0000115 nl Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix NOT_TRANSLATED +en Abnormal growth of tissue projecting from a mucous membrane of the endocervix HP:0030159 IAO:0000115 nl Abnormal growth of tissue projecting from a mucous membrane of the endocervix NOT_TRANSLATED +en Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification HP:0040188 IAO:0000115 nl Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification NOT_TRANSLATED +en Abnormal growth plate morphology HP:0025368 rdfs:label nl Afwijking van groeiplaat morfologie CANDIDATE +en Abnormal hair morphology HP:0001595 rdfs:label nl Afwijking van het haar CANDIDATE +en Abnormal hair pattern HP:0010720 rdfs:label nl Afwijkend haarpatroon CANDIDATE +en Abnormal hair quantity HP:0011362 rdfs:label nl Afwijkende haar hoeveelheid CANDIDATE +en Abnormal hair whorl HP:0010721 rdfs:label nl Abnormal hair whorl NOT_TRANSLATED +en Abnormal hairshaft morphology HP:0003328 rdfs:label nl Afwijkend laboratoriumonderzoek van haar CANDIDATE +en Abnormal hallux phalanx morphology HP:0010057 rdfs:label nl Afwijking van de falangen van de hallux CANDIDATE +en Abnormal hand bone ossification HP:0010660 rdfs:label nl Abnormale hand bot ossificatie CANDIDATE +en Abnormal hand cortical bone morphology HP:0005926 rdfs:label nl Afwijking van het corticaal bot van hand CANDIDATE +en Abnormal hand diaphysis morphology HP:0005925 rdfs:label nl Afwijkingen van de diafysen van de hand CANDIDATE +en Abnormal hand epiphysis morphology HP:0005924 rdfs:label nl Afwijking van de epifysen van de hand CANDIDATE +en Abnormal hand metaphysis morphology HP:0005923 rdfs:label nl Afwijkingen van de metafysen van de hand CANDIDATE +en Abnormal hand morphology HP:0005922 rdfs:label nl Afwijkende hand morfologie CANDIDATE +en Abnormal haptoglobin level HP:0020179 rdfs:label nl Abnormal haptoglobin level NOT_TRANSLATED +en Abnormal hard palate morphology HP:0100737 rdfs:label nl Afwijking van het harde gehemelte CANDIDATE +en Abnormal head blood vessel morphology HP:3000036 rdfs:label nl Afwijking van hoofd bloedvat CANDIDATE +en Abnormal head movements HP:0002457 rdfs:label nl Abnormale hoofdbewegingen CANDIDATE +en Abnormal heart morphology HP:0001627 rdfs:label nl Abnormale hartmorfologie CANDIDATE +en Abnormal heart rate variability HP:0031860 rdfs:label nl Abnormal heart rate variability NOT_TRANSLATED +en Abnormal heart sound HP:0031657 rdfs:label nl Afwijkende harttoon CANDIDATE +en Abnormal heart valve morphology HP:0001654 rdfs:label nl Afwijking van de hartkleppen CANDIDATE +en Abnormal heart valve physiology HP:0031653 rdfs:label nl Afwijkende hartklep fysiologie CANDIDATE +en Abnormal helix morphology HP:0011039 rdfs:label nl Afwijking van de helix CANDIDATE +en Abnormal helper T cell proportion HP:0500263 rdfs:label nl Abnormal helper T cell proportion NOT_TRANSLATED +en Abnormal hematocrit HP:0031850 rdfs:label nl Abnormal hematocrit NOT_TRANSLATED +en Abnormal hemidiaphragm morphology HP:0040045 rdfs:label nl Afwijking van de hemidiafragma's CANDIDATE +en Abnormal hemoglobin HP:0011902 rdfs:label nl Afwijkend hemoglobine CANDIDATE +en Abnormal hemoglobin concentration HP:0020061 rdfs:label nl Abnormal hemoglobin concentration NOT_TRANSLATED +en Abnormal hepatic echogenicity HP:0031142 rdfs:label nl Afwijkende hepatische echogeniciteit CANDIDATE +en Abnormal hepatic glycogen storage HP:0500030 rdfs:label nl Afwijkende hepatische glycogeen opslag CANDIDATE +en Abnormal hepatic iron concentration HP:0040134 rdfs:label nl Afwijkende concentratie van hepatisch ijzer CANDIDATE +en Abnormal hepcidin level HP:0031875 rdfs:label nl Abnormal hepcidin level NOT_TRANSLATED +en Abnormal high-mannose N-glycan level HP:0410356 rdfs:label nl Abnormal high-mannose N-glycan level NOT_TRANSLATED +en Abnormal hindbrain morphology HP:0011282 rdfs:label nl Afwijking van de morfologie van het rhombencephalon CANDIDATE +en Abnormal hip bone morphology HP:0003272 rdfs:label nl Afwijking van het heup bot CANDIDATE +en Abnormal hip joint morphology HP:0001384 rdfs:label nl Afwijking van het heupgewricht CANDIDATE +en Abnormal hippocampus morphology HP:0025100 rdfs:label nl Afwijkende morfologie van de hippocampus CANDIDATE +en Abnormal homeostasis HP:0012337 rdfs:label nl Afwijkende homeostase CANDIDATE +en Abnormal horizontal rectus muscle physiology HP:0031740 rdfs:label nl Abnormal horizontal rectus muscle physiology NOT_TRANSLATED +en Abnormal humeral diaphysis morphology HP:0003926 rdfs:label nl Afwijking van de diafyse van de humerus CANDIDATE +en Abnormal humeral head morphology HP:0003887 rdfs:label nl Afwijking van de humerus koppen CANDIDATE +en Abnormal humeral metaphysis morphology HP:0003907 rdfs:label nl Afwijking metaphyses van de humerus CANDIDATE +en Abnormal humeral ossification HP:0012791 rdfs:label nl Afwijkende humerus ossificatie CANDIDATE +en Abnormal humerus morphology HP:0031095 rdfs:label nl Afwijkende humerus morfologie CANDIDATE +en Abnormal hyoglossus muscle morphology HP:3000051 rdfs:label nl Afwijking van de musculus hyoglossus CANDIDATE +en Abnormal hyoid bone morphology HP:3000052 rdfs:label nl Afwijking van tongbeen CANDIDATE +en Abnormal hypopharynx morphology HP:3000053 rdfs:label nl Afwijking van hypofarynx CANDIDATE +en Abnormal hypothalamus morphology HP:0012286 rdfs:label nl Afwijkende hypothalamus morfologie CANDIDATE +en Abnormal hypothalamus physiology HP:0012285 rdfs:label nl Afwijkende hypothalamus fysiologie CANDIDATE +en Abnormal hypoxanthine-guanine phosphoribosyltransferase level HP:0031821 rdfs:label nl Abnormal hypoxanthine-guanine phosphoribosyltransferase level NOT_TRANSLATED +en Abnormal iduronate sulfatase concentration HP:0034202 rdfs:label nl Abnormal iduronate sulfatase concentration NOT_TRANSLATED +en Abnormal ileum morphology HP:0001549 rdfs:label nl Afwijking van het ileum CANDIDATE +en Abnormal iliac artery morphology HP:4000066 rdfs:label nl Abnormal iliac artery morphology NOT_TRANSLATED +en Abnormal iliac wing morphology HP:0011867 rdfs:label nl Abnormal iliac wing morphology NOT_TRANSLATED +en Abnormal ilium morphology HP:0002867 rdfs:label nl Afwijking van het ilium CANDIDATE +en Abnormal immune system morphology HP:0032251 rdfs:label nl Abnormal immune system morphology NOT_TRANSLATED +en Abnormal immunoglobulin level HP:0010701 rdfs:label nl Afwijkend immunoglobuline niveau CANDIDATE +en Abnormal immunoglobulin level in body fluid HP:0041076 rdfs:label nl Abnormal immunoglobulin level in body fluid NOT_TRANSLATED +en Abnormal incisor morphology HP:0011063 rdfs:label nl Afwijking van snijtand morfologie CANDIDATE +en Abnormal incisura morphology HP:0031228 rdfs:label nl Afwijkende incisura morfologie CANDIDATE +en Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension HP:0032263 IAO:0000115 nl Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension NOT_TRANSLATED +en Abnormal increase in density of the tissue at the costochondral junctions HP:0006623 IAO:0000115 nl Abnormal increase in density of the tissue at the costochondral junctions NOT_TRANSLATED +en Abnormal increase in diameter (expansion) of the vas deferens HP:0034478 IAO:0000115 nl Abnormal increase in diameter (expansion) of the vas deferens NOT_TRANSLATED +en Abnormal increase in diastolic blood pressure HP:0005117 IAO:0000115 nl Abnormal increase in diastolic blood pressure NOT_TRANSLATED +en Abnormal increase in muscle size and mass not due to training HP:0003712 IAO:0000115 nl Abnormal increase in muscle size and mass not due to training NOT_TRANSLATED +en Abnormal increase in muscle size and mass of one or both arms not due to training HP:0040265 IAO:0000115 nl Abnormal increase in muscle size and mass of one or both arms not due to training NOT_TRANSLATED +en Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging HP:0030498 IAO:0000115 nl Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging NOT_TRANSLATED +en Abnormal increase in size of one or more metaphyses HP:0003051 IAO:0000115 nl Abnormal increase in size of one or more metaphyses NOT_TRANSLATED +en Abnormal increase in size of the brainstem HP:0012755 IAO:0000115 nl Abnormal increase in size of the brainstem NOT_TRANSLATED +en Abnormal increase in size of the coronary sinus HP:0031298 IAO:0000115 nl Abnormal increase in size of the coronary sinus NOT_TRANSLATED +en Abnormal increase in size of the lower limbs (due to an increase of the size of cells) HP:0010496 IAO:0000115 nl Abnormal increase in size of the lower limbs (due to an increase of the size of cells) NOT_TRANSLATED +en Abnormal increase in size of the portal arteries of the liver HP:4000148 IAO:0000115 nl Abnormal increase in size of the portal arteries of the liver NOT_TRANSLATED +en Abnormal increase in size of the upper limbs (due to an increase of the size of cells) HP:0010484 IAO:0000115 nl Abnormal increase in size of the upper limbs (due to an increase of the size of cells) NOT_TRANSLATED +en Abnormal increase in systolic blood pressure HP:0004421 IAO:0000115 nl Abnormal increase in systolic blood pressure NOT_TRANSLATED +en Abnormal increase in the size of the epididymis HP:0034479 IAO:0000115 nl Abnormal increase in the size of the epididymis NOT_TRANSLATED +en Abnormal increase in width of the distal region of the metacarpal bones HP:0006048 IAO:0000115 nl Abnormal increase in width of the distal region of the metacarpal bones NOT_TRANSLATED +en Abnormal increase in width of the epiphyseal growth plate of the radius HP:0004014 IAO:0000115 nl Abnormal increase in width of the epiphyseal growth plate of the radius NOT_TRANSLATED +en Abnormal increase of the concentration of 3-methylhistidine in the blood circulation HP:0033157 IAO:0000115 nl Abnormal increase of the concentration of 3-methylhistidine in the blood circulation NOT_TRANSLATED +en Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation HP:0033437 IAO:0000115 nl Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation NOT_TRANSLATED +en Abnormal increased in length of the chordae tendinae of the mitral valve HP:0025522 IAO:0000115 nl Abnormal increased in length of the chordae tendinae of the mitral valve NOT_TRANSLATED +en Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction HP:0034308 IAO:0000115 nl Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction NOT_TRANSLATED +en Abnormal increased in the thickness of the size of the gallbladder HP:0034506 IAO:0000115 nl Abnormal increased in the thickness of the size of the gallbladder NOT_TRANSLATED +en Abnormal increased in the thickness of the wall of the gallbladder HP:0034505 IAO:0000115 nl Abnormal increased in the thickness of the wall of the gallbladder NOT_TRANSLATED +en Abnormal increased number of megaloblasts in the bone marrow HP:0001980 IAO:0000115 nl Abnormal increased number of megaloblasts in the bone marrow NOT_TRANSLATED +en Abnormal increased size of the elbow joint HP:0030865 IAO:0000115 nl Abnormal increased size of the elbow joint NOT_TRANSLATED +en Abnormal increased size of the posterior cranial fossa HP:0005445 IAO:0000115 nl Abnormal increased size of the posterior cranial fossa NOT_TRANSLATED +en Abnormal increased size of the spleen HP:0001744 IAO:0000115 nl Abnormal increased size of the spleen NOT_TRANSLATED +en Abnormal increased size of the viscera of the abdomen HP:0003271 IAO:0000115 nl Abnormal increased size of the viscera of the abdomen NOT_TRANSLATED +en Abnormal indocyanine green angiography HP:0030605 rdfs:label nl Afwijkende indocyanine groen angiografie CANDIDATE +en Abnormal inferior alveolar artery morphology HP:3000054 rdfs:label nl Afwijking van arteria alveolaris inferior CANDIDATE +en Abnormal inferior oblique muscle physiology HP:0025596 rdfs:label nl Afwijkende musculus obliquus inferior fysiologie CANDIDATE +en Abnormal inferior rectus muscle physiology HP:0025600 rdfs:label nl Afwijkende musculus rectus inferior bulbi fysiologie CANDIDATE +en Abnormal inferior thyroid vein morphology HP:3000059 rdfs:label nl Afwijkende vena thyreoidea inferior morfologie CANDIDATE +en Abnormal inferior vena cava morphology HP:0025576 rdfs:label nl Afwijkende vena cava inferior morfologie CANDIDATE +en Abnormal inflammatory response HP:0012647 rdfs:label nl Afwijkende inflammatoire reactie CANDIDATE +en Abnormal infraorbital artery morphology HP:3000060 rdfs:label nl Afwijking van infra-orbitale arterie CANDIDATE +en Abnormal inner ear epithelium morphology HP:3000002 rdfs:label nl Afwijkende binnenoor epitheel morfologie CANDIDATE +en Abnormal insertion of umbilical cord HP:0011418 rdfs:label nl Afwijkende insertie van de navelstreng CANDIDATE +en Abnormal insulin like growth factor binding protein acid labile subunit level HP:0031034 rdfs:label nl Abnormal insulin like growth factor binding protein acid labile subunit level NOT_TRANSLATED +en Abnormal interest HP:4000068 rdfs:label nl Abnormal interest NOT_TRANSLATED +en Abnormal interlobular vein intima/media morphology HP:0033963 rdfs:label nl Abnormal interlobular vein intima/media morphology NOT_TRANSLATED +en Abnormal interlobular vein lumen morphology HP:0033855 rdfs:label nl Abnormal interlobular vein lumen morphology NOT_TRANSLATED +en Abnormal interlobular vein morphology HP:0033854 rdfs:label nl Abnormal interlobular vein morphology NOT_TRANSLATED +en Abnormal intermamillary distance HP:0040157 rdfs:label nl Afwijkende intermamillaire afstand CANDIDATE +en Abnormal internal carotid artery morphology HP:3000062 rdfs:label nl Afwijkende arteria carotis interna morfologie CANDIDATE +en Abnormal internal genitalia HP:0000812 rdfs:label nl Abnormale interne genitaliën CANDIDATE +en Abnormal intervertebral disk morphology HP:0005108 rdfs:label nl Afwijking van de intervertebrale schijf CANDIDATE +en Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes HP:0002579 IAO:0000115 nl Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes NOT_TRANSLATED +en Abnormal intestine morphology HP:0002242 rdfs:label nl Afwijking van de darm CANDIDATE +en Abnormal intrahepatic bile duct morphology HP:0011040 rdfs:label nl Afwijking van de intrahepatische galgang CANDIDATE +en Abnormal intramembranous ossification HP:0012790 rdfs:label nl Afwijkende intramembraneuze ossificatie CANDIDATE +en Abnormal intraocular pressure HP:0012632 rdfs:label nl Afwijkende oogboldruk CANDIDATE +en Abnormal intrarenal artery morphology HP:0033836 rdfs:label nl Abnormal intrarenal artery morphology NOT_TRANSLATED +en Abnormal intrarenal vein morphology HP:0033852 rdfs:label nl Abnormal intrarenal vein morphology NOT_TRANSLATED +en Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid HP:0031737 IAO:0000115 nl Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid NOT_TRANSLATED +en Abnormal involuntary eye movements HP:0012547 rdfs:label nl Afwijkende onvrijwillige oogbewegingen CANDIDATE +en Abnormal iris pigmentation HP:0008034 rdfs:label nl Afwijkende iris pigmentatie CANDIDATE +en Abnormal iris vasculature HP:0007905 rdfs:label nl Afwijkende iris vasculatuur CANDIDATE +en Abnormal iron deposition in mitochondria HP:0008306 rdfs:label nl Afwijkende ijzer depositie in mitochondriën CANDIDATE +en Abnormal isoelectric focusing of serum transferrin HP:0003160 rdfs:label nl Abnormal isoelectric focusing of serum transferrin NOT_TRANSLATED +en Abnormal isohemagglutinin level HP:0410292 rdfs:label nl Abnormal isohemagglutinin level NOT_TRANSLATED +en Abnormal jaw morphology HP:0030791 rdfs:label nl Afwijkende kaak morfologie CANDIDATE +en Abnormal jejunum morphology HP:0005265 rdfs:label nl Afwijking van het jejunum CANDIDATE +en Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule HP:0034180 IAO:0000115 nl Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule NOT_TRANSLATED +en Abnormal joint morphology HP:0001367 rdfs:label nl Abnormale gewrichtsmorfologie CANDIDATE +en Abnormal joint physiology HP:0034430 rdfs:label nl Abnormal joint physiology NOT_TRANSLATED +en Abnormal jugular vein morphology HP:3000042 rdfs:label nl Afwijkende vena jugularis morfologie CANDIDATE +en Abnormal jugular venous pressure HP:0030847 rdfs:label nl Afwijkende vena jugularis druk CANDIDATE +en Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum HP:0040009 IAO:0000115 nl Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum NOT_TRANSLATED +en Abnormal kinetic perimetry test HP:0030591 rdfs:label nl Afwijkende kinetische perimetrie test CANDIDATE +en Abnormal labia majora morphology HP:0012881 rdfs:label nl Afwijking van de labia majora CANDIDATE +en Abnormal labia minora morphology HP:0012880 rdfs:label nl Afwijking van de labia minora CANDIDATE +en Abnormal labia morphology HP:0000058 rdfs:label nl Afwijking van de labia CANDIDATE +en Abnormal lacrimal artery morphology HP:3000065 rdfs:label nl Afwijkende arteria lacrimalis morfologie CANDIDATE +en Abnormal lacrimal bone morphology HP:0430002 rdfs:label nl Afwijking van het os lacrimale CANDIDATE +en Abnormal lacrimal duct morphology HP:0011481 rdfs:label nl Afwijkende traanbuis morfologie CANDIDATE +en Abnormal lacrimal gland morphology HP:0011482 rdfs:label nl Afwijkende traanklier morfologie CANDIDATE +en Abnormal lacrimal punctum morphology HP:0011479 rdfs:label nl Afwijkende punctum lacrimale morfologie CANDIDATE +en Abnormal lacrimal sac morphology HP:3000066 rdfs:label nl Afwijkende traanzak morfologie CANDIDATE +en Abnormal lactate dehydrogenase level HP:0045040 rdfs:label nl Afwijkend lactaatdehydrogenase activiteit CANDIDATE +en Abnormal large intestinal mucosa morphology HP:0025090 rdfs:label nl Afwijkende dikke darm mucosa morfologie CANDIDATE +en Abnormal large intestine morphology HP:0002250 rdfs:label nl Afwijking van de dikke darm CANDIDATE +en Abnormal large intestine physiology HP:0012700 rdfs:label nl Afwijkende dikke darm fysiologie CANDIDATE +en Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean HP:0007800 IAO:0000115 nl Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean NOT_TRANSLATED +en Abnormal larynx morphology HP:0025423 rdfs:label nl Afwijkende larynx morfologie CANDIDATE +en Abnormal larynx physiology HP:0025424 rdfs:label nl Afwijkende larynx fysiologie CANDIDATE +en Abnormal lateral cricoarytenoid muscle morphology HP:3000067 rdfs:label nl Afwijking van laterale cricoarytenoid CANDIDATE +en Abnormal lateral rectus muscle physiology HP:0031749 rdfs:label nl Afwijkende musculus rectus lateralis bulbi fysiologie CANDIDATE +en Abnormal lateral ventricle morphology HP:0030047 rdfs:label nl Afwijking van laterale ventrikel CANDIDATE +en Abnormal layering of muscularis propria HP:0030936 rdfs:label nl Abnormal layering of muscularis propria NOT_TRANSLATED +en Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer HP:0030936 IAO:0000115 nl Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer NOT_TRANSLATED +en Abnormal left atrium morphology HP:0025579 rdfs:label nl Afwijkende linker atrium morfologie CANDIDATE +en Abnormal left hemidiaphragm morphology HP:0040046 rdfs:label nl Afwijking van het linker hemidiafragma CANDIDATE +en Abnormal left ventricle morphology HP:0001711 rdfs:label nl Afwijking van het linkerventrikel CANDIDATE +en Abnormal left ventricular ejection fraction HP:0034314 rdfs:label nl Abnormal left ventricular ejection fraction NOT_TRANSLATED +en Abnormal left ventricular end-diastolic volume HP:0033754 rdfs:label nl Abnormal left ventricular end-diastolic volume NOT_TRANSLATED +en Abnormal left ventricular endsystolic diameter HP:0034385 rdfs:label nl Abnormal left ventricular endsystolic diameter NOT_TRANSLATED +en Abnormal left ventricular function HP:0005162 rdfs:label nl Linker ventrikel falen CANDIDATE +en Abnormal left ventricular outflow tract morphology HP:0011103 rdfs:label nl Abnormal left ventricular outflow tract morphology NOT_TRANSLATED +en Abnormal length of corpus callosum HP:0200011 rdfs:label nl Afwijkende lengte van corpus callosum CANDIDATE +en Abnormal lens morphology HP:0000517 rdfs:label nl Afwijking van de lens CANDIDATE +en Abnormal leukocyte count HP:0011893 rdfs:label nl Afwijkend aantal leukocyten CANDIDATE +en Abnormal leukocyte morphology HP:0001881 rdfs:label nl Abnormale morfologie van de leukocyten CANDIDATE +en Abnormal leukocyte physiology HP:0033796 rdfs:label nl Abnormal leukocyte physiology NOT_TRANSLATED +en Abnormal levator palpebrae superioris morphology HP:3000072 rdfs:label nl Afwijking van de musculus levator palpebrae superioris CANDIDATE +en Abnormal level of metabolite or other abnormal analyte result in a stool test HP:0031685 IAO:0000115 nl Abnormal level of metabolite or other abnormal analyte result in a stool test NOT_TRANSLATED +en Abnormal level of platelet-activating factor HP:0040177 rdfs:label nl Afwijkend niveau van platelet-activating factor CANDIDATE +en Abnormal levels of alpha-fetoprotein HP:0045056 rdfs:label nl Afwijkende niveaus van alfafoetoproteïne CANDIDATE +en Abnormal levels of interferon gamma measured in the blood circulation HP:0030355 IAO:0000115 nl Abnormal levels of interferon gamma measured in the blood circulation NOT_TRANSLATED +en Abnormal levels of interferon in the blood HP:0030354 IAO:0000115 nl Abnormal levels of interferon in the blood NOT_TRANSLATED +en Abnormal libido HP:0031845 rdfs:label nl Abnormal libido NOT_TRANSLATED +en Abnormal light- and dark-adapted electroretinogram HP:0008323 rdfs:label nl Afwijkend licht- en donker-aangepast elektroretinogram CANDIDATE +en Abnormal light-adapted electroretinogram HP:0008275 rdfs:label nl Afwijkend licht-aangepast elektroretinogram CANDIDATE +en Abnormal light-adapted flicker electroretinogram HP:0030473 rdfs:label nl Abnormal light-adapted flicker electroretinogram NOT_TRANSLATED +en Abnormal light-adapted single flash electroretinogram HP:0030472 rdfs:label nl Abnormal light-adapted single flash electroretinogram NOT_TRANSLATED +en Abnormal limb epiphysis morphology HP:0006505 rdfs:label nl Afwijking van morfologie van epifyse van ledemaat CANDIDATE +en Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm HP:0034501 IAO:0000115 nl Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm NOT_TRANSLATED +en Abnormal line of Schwalbe morphology HP:0008048 rdfs:label nl Afwijking van lijn van Schwalbe CANDIDATE +en Abnormal lingual artery morphology HP:3000074 rdfs:label nl Afwijkende arteria lingualis morfologie CANDIDATE +en Abnormal lingual nerve morphology HP:3000075 rdfs:label nl Afwijkende nervus lingualis morfologie CANDIDATE +en Abnormal lip morphology HP:0000159 rdfs:label nl Afwijking van de lip CANDIDATE +en Abnormal lip pigmentation HP:0032453 rdfs:label nl Abnormal lip pigmentation NOT_TRANSLATED +en Abnormal liver function tests during pregnancy HP:0200148 rdfs:label nl Afwijkende leverfunctie testen tijdens zwangerschap CANDIDATE +en Abnormal liver lobulation HP:0100752 rdfs:label nl Abnormale lever lobulatie CANDIDATE +en Abnormal liver morphology HP:0410042 rdfs:label nl Afwijkende lever morfologie CANDIDATE +en Abnormal liver parenchyma morphology HP:0030146 rdfs:label nl Afwijkende lever parenchym morfologie CANDIDATE +en Abnormal liver physiology HP:0031865 rdfs:label nl Abnormal liver physiology NOT_TRANSLATED +en Abnormal liver sonography HP:0031140 rdfs:label nl Afwijkende lever echografie CANDIDATE +en Abnormal localization of kidney HP:0100542 rdfs:label nl Abnormale lokalisatie van nier CANDIDATE +en Abnormal localization of mitochondria within the nuclei of cardiomyocytes HP:0031336 IAO:0000115 nl Abnormal localization of mitochondria within the nuclei of cardiomyocytes NOT_TRANSLATED +en Abnormal location of ears HP:0000357 rdfs:label nl Abnormale locatie van de oren CANDIDATE +en Abnormal location of the ear HP:0000357 IAO:0000115 nl Abnormal location of the ear NOT_TRANSLATED +en Abnormal location of the eyebrow HP:0040296 rdfs:label nl Afwijkende locatie van de wenkbrauw CANDIDATE +en Abnormal location of the insertion of a papillary muscle into the left ventricular wall HP:0025447 IAO:0000115 nl Abnormal location of the insertion of a papillary muscle into the left ventricular wall NOT_TRANSLATED +en Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, HP:0025449 IAO:0000115 nl Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view, NOT_TRANSLATED +en Abnormal long bone morphology HP:0011314 rdfs:label nl Afwijking van lange bot morfologie CANDIDATE +en Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract HP:0002243 IAO:0000115 nl Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract NOT_TRANSLATED +en Abnormal lower limb bone morphology HP:0040069 rdfs:label nl Afwijking van bot van onderste ledemaat CANDIDATE +en Abnormal lower lip morphology HP:0000178 rdfs:label nl Afwijking van de onderlip CANDIDATE +en Abnormal lower motor neuron morphology HP:0002366 rdfs:label nl Abnormale onderste motor neuron morfologie CANDIDATE +en Abnormal lower-limb metaphysis morphology HP:0006490 rdfs:label nl Afwijking van metafysen van onderste ledematen CANDIDATE +en Abnormal lower-limb motor evoked potentials HP:0012898 rdfs:label nl Afwijking van onderste extremiteit motorisch opgewekte potentialen CANDIDATE +en Abnormal lumbar spine morphology HP:0100712 rdfs:label nl Afwijking van de lumbale wervelkolom CANDIDATE +en Abnormal lung development HP:4000059 rdfs:label nl Abnormal lung development NOT_TRANSLATED +en Abnormal lung lobation HP:0002101 rdfs:label nl Abnormale long lobulatie CANDIDATE +en Abnormal lung morphology HP:0002088 rdfs:label nl Abnormale long morfologie CANDIDATE +en Abnormal lymph node morphology HP:0002733 rdfs:label nl Afwijking van de lymfeknopen CANDIDATE +en Abnormal lymphatic vessel morphology HP:0100766 rdfs:label nl Abnormale lymfevaten morfologie CANDIDATE +en Abnormal lymphocyte apoptosis HP:0030886 rdfs:label nl Afwijkende lymfocytaire apoptose CANDIDATE +en Abnormal lymphocyte count HP:0040088 rdfs:label nl Afwijkend lymfocyten aantal CANDIDATE +en Abnormal lymphocyte morphology HP:0004332 rdfs:label nl Afwijkende lymfocyten morfologie CANDIDATE +en Abnormal lymphocyte physiology HP:0031409 rdfs:label nl Afwijkende lymfocyten fysiologie CANDIDATE +en Abnormal lymphocyte proliferation HP:0031378 rdfs:label nl Afwijkende lymfocyt proliferatie CANDIDATE +en Abnormal lymphocyte surface marker expression HP:0031383 rdfs:label nl Abnormal lymphocyte surface marker expression NOT_TRANSLATED +en Abnormal lysosomal morphology HP:0031340 rdfs:label nl Afwijkende lysosomale morfologie CANDIDATE +en Abnormal macrophage count HP:0030326 rdfs:label nl Afwijkend aantal macrofagen CANDIDATE +en Abnormal macrophage morphology HP:0004311 rdfs:label nl Afwijkende macrofaag morfologie CANDIDATE +en Abnormal macroscopic urine appearance HP:0033072 rdfs:label nl Abnormal macroscopic urine appearance NOT_TRANSLATED +en Abnormal macular morphology HP:0001103 rdfs:label nl Afwijking van de macula CANDIDATE +en Abnormal magnesium concentration HP:0004921 rdfs:label nl Afwijking van magnesium homeostase CANDIDATE +en Abnormal male germ cell morphology HP:0012863 rdfs:label nl Afwijkende mannelijke kiemcel morfologie CANDIDATE +en Abnormal male internal genitalia morphology HP:0000022 rdfs:label nl Afwijking van mannelijke interne genitaliën CANDIDATE +en Abnormal male reproductive system physiology HP:0012874 rdfs:label nl Afwijking van mannelijk reproductieve systeem fysiologie CANDIDATE +en Abnormal male urethral meatus morphology HP:0032076 rdfs:label nl Abnormal male urethral meatus morphology NOT_TRANSLATED +en Abnormal mandible condylar process morphology HP:3000077 rdfs:label nl Afwijking van de processus condylaris mandibulae CANDIDATE +en Abnormal mandible coronoid process morphology HP:3000078 rdfs:label nl Afwijking van de processus coronoideus mandibulae CANDIDATE +en Abnormal mandible morphology HP:0000277 rdfs:label nl Afwijking van de mandibula CANDIDATE +en Abnormal mandibular ramus morphology HP:3000003 rdfs:label nl Afwijking van ramus mandibulae CANDIDATE +en Abnormal mandibular symphysis morphology HP:3000079 rdfs:label nl Afwijking van symphysis mandibulae CANDIDATE +en Abnormal manganese concentration HP:0032096 rdfs:label nl Abnormal manganese concentration NOT_TRANSLATED +en Abnormal mannose-binding protein level HP:0032304 rdfs:label nl Abnormal mannose-binding protein level NOT_TRANSLATED +en Abnormal mannosylation of N-linked protein glycosylation HP:0012355 rdfs:label nl Afwijkende mannosylatie van N-glycosylatie CANDIDATE +en Abnormal manual kinetic perimetry test HP:0030593 rdfs:label nl Afwijkende manuele kinetische perimetrie test CANDIDATE +en Abnormal mast cell morphology HP:0100494 rdfs:label nl Abnormale mest cel morfologie CANDIDATE +en Abnormal mastoid morphology HP:0000264 rdfs:label nl Afwijking van het mastoid CANDIDATE +en Abnormal maternal serum screening HP:0011436 rdfs:label nl Afwijkende maternale serum screening CANDIDATE +en Abnormal mean corpuscular hemoglobin concentration HP:0025546 rdfs:label nl Afwijkend MCH CANDIDATE +en Abnormal mean corpuscular volume HP:0025065 rdfs:label nl Afwijkend erytrocyt volume CANDIDATE +en Abnormal medial rectus muscle physiology HP:0025606 rdfs:label nl Afwijkende musculus rectus medialis bulbi fysiologie CANDIDATE +en Abnormal mediastinum morphology HP:0045026 rdfs:label nl Afwijking van het mediastinum CANDIDATE +en Abnormal medulla oblongata morphology HP:0011441 rdfs:label nl Afwijking van de medulla oblongata CANDIDATE +en Abnormal medullary peritubular capillary lumen morphology HP:0033868 rdfs:label nl Abnormal medullary peritubular capillary lumen morphology NOT_TRANSLATED +en Abnormal medullary peritubular capillary morphology HP:0033864 rdfs:label nl Abnormal medullary peritubular capillary morphology NOT_TRANSLATED +en Abnormal megakaryocyte morphology HP:0012143 rdfs:label nl Afwijkende megakaryocyt morfologie CANDIDATE +en Abnormal meiosis HP:0031515 rdfs:label nl Abnormale meiose CANDIDATE +en Abnormal meningeal morphology HP:0010651 rdfs:label nl Afwijking van de meningen CANDIDATE +en Abnormal meniscus morphology HP:0032190 rdfs:label nl Abnormal meniscus morphology NOT_TRANSLATED +en Abnormal metabolic brain imaging by MRS HP:0012705 rdfs:label nl Afwijkend metabole beeldvorming van de hersenen met MRS CANDIDATE +en Abnormal metabolism HP:0032245 rdfs:label nl Abnormal metabolism NOT_TRANSLATED +en Abnormal metacarpal epiphysis morphology HP:0005913 rdfs:label nl Afwijking van epifysen van de metacarpalen CANDIDATE +en Abnormal metacarpal morphology HP:0005916 rdfs:label nl Afwijkende metacarpale morfologie CANDIDATE +en Abnormal metacarpophalangeal joint morphology HP:0011911 rdfs:label nl Afwijking van het metacarpofalangeale gewricht CANDIDATE +en Abnormal metaphyseal trabeculation HP:0005089 rdfs:label nl Afwijkende metafysaire trabeculatie CANDIDATE +en Abnormal metaphyseal vascular invasion HP:0003562 rdfs:label nl Afwijkende metafysaire vasculaire invasie CANDIDATE +en Abnormal metaphysis morphology HP:0000944 rdfs:label nl Afwijking van de metafyses CANDIDATE +en Abnormal metatarsal morphology HP:0001832 rdfs:label nl Afwijking van de middenhandsbeentjes CANDIDATE +en Abnormal metatarsal ossification HP:0008371 rdfs:label nl Afwijkende metatarsale ossificatie CANDIDATE +en Abnormal metencephalon morphology HP:0011283 rdfs:label nl Afwijking van het metencephalon CANDIDATE +en Abnormal microglia morphology HP:0100708 rdfs:label nl Afwijking van de microglia CANDIDATE +en Abnormal midbrain morphology HP:0002418 rdfs:label nl Afwijking van de morfologie van het middenbrein CANDIDATE +en Abnormal middle ear reflexes HP:0004454 rdfs:label nl Afwijkende middenoor reflexen CANDIDATE +en Abnormal middle phalanx morphology of the hand HP:0009833 rdfs:label nl Afwijking van de middelste falangen van de handen CANDIDATE +en Abnormal midface morphology HP:0000309 rdfs:label nl Afwijking van de middengelaat CANDIDATE +en Abnormal migration of corneal endothelium HP:0011489 IAO:0000115 nl Abnormal migration of corneal endothelium NOT_TRANSLATED +en Abnormal migration of corneal endothelium HP:0011489 rdfs:label nl Afwijkende migratie van corneaal endotheel CANDIDATE +en Abnormal mitochondria in muscle tissue HP:0008316 rdfs:label nl Afwijkende mitochondriën in spierweefsel CANDIDATE +en Abnormal mitochondrial morphology HP:0008322 rdfs:label nl Afwijkende mitochondriale morfologie CANDIDATE +en Abnormal mitochondrial number HP:0012102 rdfs:label nl Afwijkend aantal van mitochondriën CANDIDATE +en Abnormal mitochondrial shape HP:0012087 rdfs:label nl Afwijkende mitochondriale vorm CANDIDATE +en Abnormal mitral valve annulus morphology HP:0031478 rdfs:label nl Afwijkende mitralisannulus morfologie CANDIDATE +en Abnormal mitral valve leaflet morphology HP:0031480 rdfs:label nl Abnormal mitral valve leaflet morphology NOT_TRANSLATED +en Abnormal mitral valve morphology HP:0001633 rdfs:label nl Afwijking van de mitralisklep CANDIDATE +en Abnormal mitral valve physiology HP:0031481 rdfs:label nl Afwijkende mitralisklep fysiologie CANDIDATE +en Abnormal molar morphology HP:0011070 rdfs:label nl Afwijking van molaire morfologie CANDIDATE +en Abnormal monocyte count HP:0012310 rdfs:label nl Afwijkend monocyten aantal CANDIDATE +en Abnormal monocyte morphology HP:0012144 rdfs:label nl Afwijkende monocyt morfologie CANDIDATE +en Abnormal morphological development of the superior part of the cerebellum HP:0020185 IAO:0000115 nl Abnormal morphological development of the superior part of the cerebellum NOT_TRANSLATED +en Abnormal morphology of a vertebral pedical HP:0030277 IAO:0000115 nl Abnormal morphology of a vertebral pedical NOT_TRANSLATED +en Abnormal morphology of bony orbit of skull HP:3000030 rdfs:label nl Afwijking van oogkas CANDIDATE +en Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix HP:0008271 IAO:0000115 nl Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix NOT_TRANSLATED +en Abnormal morphology of erythroid progenitor cell HP:0025034 rdfs:label nl Afwijkende morfologie van erytroïde progenitorcel CANDIDATE +en Abnormal morphology of female internal genitalia HP:0000008 rdfs:label nl Afwijking van de vrouwelijke interne genitalia CANDIDATE +en Abnormal morphology of left ventricular trabeculae HP:0031192 rdfs:label nl Abnormal morphology of left ventricular trabeculae NOT_TRANSLATED +en Abnormal morphology of musculature of pharynx HP:0430015 rdfs:label nl Afwijking van musculatuur van farynx CANDIDATE +en Abnormal morphology of myocardial trabeculae HP:0030681 rdfs:label nl Abnormal morphology of myocardial trabeculae NOT_TRANSLATED +en Abnormal morphology of phalanx of the 2nd toe HP:0010324 rdfs:label nl Afwijking van falanx van de 2e teen CANDIDATE +en Abnormal morphology of right ventricular trabeculae HP:0031193 rdfs:label nl Abnormal morphology of right ventricular trabeculae NOT_TRANSLATED +en Abnormal morphology of the abdominal musculature HP:0010991 rdfs:label nl Afwijking van de abdominale musculatuur CANDIDATE +en Abnormal morphology of the chest musculature HP:0410167 rdfs:label nl Abnormal morphology of the chest musculature NOT_TRANSLATED +en Abnormal morphology of the chordae tendinae of the mitral valve HP:0025523 rdfs:label nl Abnormal morphology of the chordae tendinae of the mitral valve NOT_TRANSLATED +en Abnormal morphology of the choroidal vasculature HP:0025568 rdfs:label nl Afwijkende morfologie van choroïdale vasculatuur CANDIDATE +en Abnormal morphology of the conjunctival vasculature HP:0008054 rdfs:label nl Afwijkende morfologie van de vasculatuur van de conjunctiva CANDIDATE +en Abnormal morphology of the cortex of the humerus HP:0010629 rdfs:label nl Afwijkende morfologie van de cortex van de humerus CANDIDATE +en Abnormal morphology of the great vessels HP:0030962 rdfs:label nl Afwijkende morfologie van de grote vaten CANDIDATE +en Abnormal morphology of the limbic system HP:0007343 rdfs:label nl Afwijkende morfologie van het limbisch systeem CANDIDATE +en Abnormal morphology of the musculature of the neck HP:0011006 rdfs:label nl Afwijking van de spieren van de nek CANDIDATE +en Abnormal morphology of the nasal alae HP:0000429 rdfs:label nl Afwijking van de neusvleugels CANDIDATE +en Abnormal morphology of the olfactory bulb HP:0040327 rdfs:label nl Afwijkende morfologie van de bulbus olfactorius CANDIDATE +en Abnormal morphology of the pelvis musculature HP:0001469 rdfs:label nl Afwijking van de bekkenmusculatuur CANDIDATE +en Abnormal morphology of the proximal phalanx of the 2nd toe HP:0010358 rdfs:label nl Afwijking van de proximale falanx van de 2e teen CANDIDATE +en Abnormal morphology of the proximal phalanx of the 3rd toe HP:0010370 rdfs:label nl Afwijking van de proximale falanx van de 3e teen CANDIDATE +en Abnormal morphology of the proximal phalanx of the 4th toe HP:0010382 rdfs:label nl Afwijking van de proximale falanx van de 4e teen CANDIDATE +en Abnormal morphology of the proximal phalanx of the 5th toe HP:0010394 rdfs:label nl Afwijking van de proximale falanx van de 5e teen CANDIDATE +en Abnormal morphology of the proximal phalanx of the hallux HP:0010052 rdfs:label nl Afwijking van de proximale falanx van de hallux CANDIDATE +en Abnormal morphology of the radius HP:0002818 rdfs:label nl Afwijking van de radius CANDIDATE +en Abnormal morphology of the shoulder musculature HP:0410169 rdfs:label nl Abnormal morphology of the shoulder musculature NOT_TRANSLATED +en Abnormal morphology of ulna HP:0040071 rdfs:label nl Afwijkende morfologie van ulna CANDIDATE +en Abnormal morphology of vertebral body HP:0003312 IAO:0000115 nl Abnormal morphology of vertebral body NOT_TRANSLATED +en Abnormal motor evoked potentials HP:0012896 rdfs:label nl Afwijking van motorisch opgewekte potentialen CANDIDATE +en Abnormal motor nerve conduction velocity HP:0040131 rdfs:label nl Afwijkende motorische zenuwgeleidingssnelheid CANDIDATE +en Abnormal motor neuron morphology HP:0002450 rdfs:label nl Abnormale motor neuron morfologie CANDIDATE +en Abnormal mouth floor morphology HP:0410012 rdfs:label nl Afwijking van de mondvloer CANDIDATE +en Abnormal mucociliary clearance HP:0031602 rdfs:label nl Afwijkende mucociliaire klaring CANDIDATE +en Abnormal multifocal electroretinogram HP:0030468 rdfs:label nl Abnormal multifocal electroretinogram NOT_TRANSLATED +en Abnormal muscle fiber alpha dystroglycan HP:0030112 rdfs:label nl Afwijkend spiervezel alfa-dystroglycaan CANDIDATE +en Abnormal muscle fiber alpha sarcoglycan HP:0030100 rdfs:label nl Afwijkend spiervezel alfa-sarcoglycaan CANDIDATE +en Abnormal muscle fiber beta sarcoglycan HP:0030103 rdfs:label nl Afwijkend spiervezel beta-sarcoglycaan CANDIDATE +en Abnormal muscle fiber calpain-3 HP:0030119 rdfs:label nl Afwijkende spiervezel calpaïne-3 CANDIDATE +en Abnormal muscle fiber delta sarcoglycan HP:0030105 rdfs:label nl Afwijkend spiervezel delta-sarcoglycaan CANDIDATE +en Abnormal muscle fiber desmin HP:0030224 rdfs:label nl Afwijkend spiervezel desmine CANDIDATE +en Abnormal muscle fiber dysferlin HP:0030113 rdfs:label nl Afwijkend spiervezel dysferline CANDIDATE +en Abnormal muscle fiber dystrophin expression HP:0030096 rdfs:label nl Afwijkende spiervezel dystrofine expressie CANDIDATE +en Abnormal muscle fiber emerin HP:0030116 rdfs:label nl Afwijkend spiervezel emerine CANDIDATE +en Abnormal muscle fiber gamma sarcoglycan HP:0030104 rdfs:label nl Afwijkend spiervezel gamma-sarcoglycaan CANDIDATE +en Abnormal muscle fiber lamin A/C HP:0030123 rdfs:label nl Afwijkend spiervezel lamine A/C CANDIDATE +en Abnormal muscle fiber laminin beta 1 HP:0030093 rdfs:label nl Afwijkend spiervezel laminine beta 1 CANDIDATE +en Abnormal muscle fiber merosin expression HP:0030090 rdfs:label nl Afwijkende spiervezel merosine expressie CANDIDATE +en Abnormal muscle fiber morphology HP:0004303 rdfs:label nl Afwijking van spiervezels CANDIDATE +en Abnormal muscle fiber myotilin HP:0030226 rdfs:label nl Afwijkend spiervezel myotiline CANDIDATE +en Abnormal muscle fiber protein expression HP:0030089 rdfs:label nl Afwijkende spiervezel eiwit expressie CANDIDATE +en Abnormal muscle fiber valosin-containing protein HP:0030228 rdfs:label nl Afwijkend eiwit dat valosine bevat in spiervezel CANDIDATE +en Abnormal muscle fiber-type distribution HP:0033684 rdfs:label nl Abnormal muscle fiber-type distribution NOT_TRANSLATED +en Abnormal muscle glycogen content HP:0012269 rdfs:label nl Afwijkende spier glycogeen inhoud CANDIDATE +en Abnormal muscle physiology HP:0011804 rdfs:label nl Afwijking van spier fysiologie CANDIDATE +en Abnormal muscle tissue enzyme activity HP:0034510 rdfs:label nl Abnormal muscle tissue enzyme activity NOT_TRANSLATED +en Abnormal muscle tissue metabolite concentration HP:0034370 rdfs:label nl Abnormal muscle tissue metabolite concentration NOT_TRANSLATED +en Abnormal muscle tone HP:0003808 rdfs:label nl Afwijkende spiertonus CANDIDATE +en Abnormal musculoskeletal physiology HP:0011843 rdfs:label nl Afwijking van de skelet fysiologie CANDIDATE +en Abnormal myelination HP:0012447 rdfs:label nl Abnormale myelinisering CANDIDATE +en Abnormal myeloid cell morphology HP:0020047 rdfs:label nl Afwijkende myeloïde cel morfologie CANDIDATE +en Abnormal myeloid leukocyte morphology HP:0010974 rdfs:label nl Afwijking van myeloïde leukocyten CANDIDATE +en Abnormal myocardium morphology HP:0001637 rdfs:label nl Afwijking van het myocardium CANDIDATE +en Abnormal nail growth HP:0030807 rdfs:label nl Afwijkende nagel groei CANDIDATE +en Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress HP:0010644 IAO:0000115 nl Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress NOT_TRANSLATED +en Abnormal narrowing of the anal opening HP:0002025 IAO:0000115 nl Abnormal narrowing of the anal opening NOT_TRANSLATED +en Abnormal narrowing of the choana (the posterior nasal aperture) HP:0000452 IAO:0000115 nl Abnormal narrowing of the choana (the posterior nasal aperture) NOT_TRANSLATED +en Abnormal narrowing of the coronary artery HP:0005145 IAO:0000115 nl Abnormal narrowing of the coronary artery NOT_TRANSLATED +en Abnormal narrowing of the urethra HP:0008661 IAO:0000115 nl Abnormal narrowing of the urethra NOT_TRANSLATED +en Abnormal nasal base norphology HP:0012808 rdfs:label nl Afwijking van neusbasis CANDIDATE +en Abnormal nasal bone morphology HP:0010939 rdfs:label nl Afwijking van het nasale bot CANDIDATE +en Abnormal nasal bridge morphology HP:0000422 rdfs:label nl Afwijking van de neusbrug CANDIDATE +en Abnormal nasal cartilage morphology HP:0030027 rdfs:label nl Afwijking van het nasale kraakbeen CANDIDATE +en Abnormal nasal dorsum morphology HP:0011119 rdfs:label nl Afwijking van de neusrug CANDIDATE +en Abnormal nasal morphology HP:0005105 rdfs:label nl Afwijkende nasale morfologie CANDIDATE +en Abnormal nasal mucosa morphology HP:0000433 rdfs:label nl Afwijking van het neusslijmvlies CANDIDATE +en Abnormal nasal mucus secretion HP:0031416 rdfs:label nl Afwijkend nasale slijm secretie CANDIDATE +en Abnormal nasal septum morphology HP:0000419 rdfs:label nl Afwijking van het neustussenschot CANDIDATE +en Abnormal nasal skeleton morphology HP:0010937 rdfs:label nl Afwijking van nasale skelet CANDIDATE +en Abnormal nasal tip morphology HP:0000436 rdfs:label nl Afwijking van de neuspunt CANDIDATE +en Abnormal nasolacrimal system morphology HP:0000614 rdfs:label nl Afwijking van het nasolacrimaal-systeem CANDIDATE +en Abnormal nasopharyngeal adenoid morphology HP:3000033 rdfs:label nl Afwijking van nasofaryngeale adenoïden CANDIDATE +en Abnormal nasopharynx morphology HP:0001739 rdfs:label nl Afwijking van de nasofarynx CANDIDATE +en Abnormal natural killer cell count HP:0040089 rdfs:label nl Afwijkend aantal natural killer cellen CANDIDATE +en Abnormal natural killer cell morphology HP:0012176 rdfs:label nl Afwijkende natural killer cel morfologie CANDIDATE +en Abnormal natural killer cell physiology HP:0012177 rdfs:label nl Afwijkende natural killer cel fysiologie CANDIDATE +en Abnormal natural killer subset distribution HP:0500033 rdfs:label nl Afwijkende natural killer subset distributie CANDIDATE +en Abnormal neck blood vessel morphology HP:3000037 rdfs:label nl Afwijking van nek bloedvat CANDIDATE +en Abnormal neck morphology HP:0025668 rdfs:label nl Abnormal neck morphology NOT_TRANSLATED +en Abnormal neck physiology HP:0025669 rdfs:label nl Abnormal neck physiology NOT_TRANSLATED +en Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years HP:0033330 IAO:0000115 nl Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years NOT_TRANSLATED +en Abnormal nephron morphology HP:0012575 rdfs:label nl Afwijking van het nefron CANDIDATE +en Abnormal nerve conduction velocity HP:0040129 rdfs:label nl Afwijkende zenuwgeleidingssnelheid CANDIDATE +en Abnormal nervous system electrophysiology HP:0001311 rdfs:label nl Abnormale zenuwstelsel electrofysiologie CANDIDATE +en Abnormal nervous system morphology HP:0012639 rdfs:label nl Afwijking van de zenuwstelsel morfologie CANDIDATE +en Abnormal nervous system physiology HP:0012638 rdfs:label nl Afwijking van de fysiologie van het zenuwstelsel CANDIDATE +en Abnormal neural tube morphology HP:0410043 rdfs:label nl Afwijkende neurale buis morfologie CANDIDATE +en Abnormal neuron branching HP:0500032 rdfs:label nl Afwijkende neuron vertakking CANDIDATE +en Abnormal neuron morphology HP:0012757 rdfs:label nl Afwijkende neuron morfologie CANDIDATE +en Abnormal neutrophil count HP:0011991 rdfs:label nl Afwijkend aantal neutrofielen CANDIDATE +en Abnormal nipple morphology HP:0004404 rdfs:label nl Afwijkende tepel morfologie CANDIDATE +en Abnormal nonverbal communicative behavior HP:0000758 rdfs:label nl Verminderd gebruik van non-verbale gedragingen CANDIDATE +en Abnormal nostril morphology HP:0005288 rdfs:label nl Afwijking van de neusgaten CANDIDATE +en Abnormal number of alpha granules HP:0012528 rdfs:label nl Afwijkend aantal alfa-granules CANDIDATE +en Abnormal number of dense granules HP:0012530 rdfs:label nl Abnormal number of dense granules NOT_TRANSLATED +en Abnormal number of erythroid precursors HP:0012131 rdfs:label nl Afwijkend aantal van erytroïde voorlopers CANDIDATE +en Abnormal number of granulocyte precursors HP:0012137 rdfs:label nl Afwijkend aantal van granulocyten voorlopers CANDIDATE +en Abnormal number of hair whorls HP:0010813 rdfs:label nl Abnormal number of hair whorls NOT_TRANSLATED +en Abnormal number of incisors HP:0011064 rdfs:label nl Abnormaal aantal snijtanden CANDIDATE +en Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney HP:0033231 IAO:0000115 nl Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney NOT_TRANSLATED +en Abnormal number of permanent teeth HP:0011044 rdfs:label nl Abnormaal aantal permanente tanden CANDIDATE +en Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood HP:0011873 IAO:0000115 nl Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood NOT_TRANSLATED +en Abnormal number of teeth HP:0006483 rdfs:label nl Abnormaal aantal tanden CANDIDATE +en Abnormal number of tubercles HP:0040112 rdfs:label nl Afwijkend aantal tuberkels CANDIDATE +en Abnormal number of vertebrae HP:0030304 rdfs:label nl Afwijkend aantal wervels CANDIDATE +en Abnormal oblique muscle physiology HP:0031739 rdfs:label nl Afwijkende musculus obliquus fysiologie CANDIDATE +en Abnormal occipital bone morphology HP:0012294 rdfs:label nl Afwijking van het os occipitale CANDIDATE +en Abnormal ocular adnexa morphology HP:0030669 rdfs:label nl Abnormal ocular adnexa morphology NOT_TRANSLATED +en Abnormal ocular adnexa physiology HP:0032040 rdfs:label nl Abnormal ocular adnexa physiology NOT_TRANSLATED +en Abnormal ocular alignment HP:0500073 rdfs:label nl Abnormal ocular alignment NOT_TRANSLATED +en Abnormal odontoid tissue morphology HP:3000050 rdfs:label nl Afwijking van odontoid weefsel CANDIDATE +en Abnormal olecranon morphology HP:0004032 rdfs:label nl Afwijking van het olecranon CANDIDATE +en Abnormal oligodendroglia morphology HP:0100706 rdfs:label nl Afwijking van de oligodendrocyten CANDIDATE +en Abnormal onset of bleeding HP:0040231 rdfs:label nl Afwijkende aanvang van bloeding CANDIDATE +en Abnormal oocyte morphology HP:0020155 rdfs:label nl Abnormal oocyte morphology NOT_TRANSLATED +en Abnormal optic disc morphology HP:0012795 rdfs:label nl Afwijking van de optische schijf CANDIDATE +en Abnormal optical coherence tomography HP:0030603 rdfs:label nl Afwijkende optische coherentietomografie CANDIDATE +en Abnormal oral cavity morphology HP:0000163 rdfs:label nl Afwijking van de mondholte CANDIDATE +en Abnormal oral frenulum morphology HP:0000190 rdfs:label nl Afwijking van orale frenula CANDIDATE +en Abnormal oral glucose tolerance HP:0004924 rdfs:label nl Gestoorde orale glucose tolerantie CANDIDATE +en Abnormal oral morphology HP:0031816 rdfs:label nl Abnormal oral morphology NOT_TRANSLATED +en Abnormal oral mucosa morphology HP:0011830 rdfs:label nl Afwijking van orale mucosa CANDIDATE +en Abnormal oral physiology HP:0031815 rdfs:label nl Abnormal oral physiology NOT_TRANSLATED +en Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery HP:0031632 IAO:0000115 nl Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery NOT_TRANSLATED +en Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis HP:0009105 IAO:0000115 nl Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis NOT_TRANSLATED +en Abnormal ossification involving the femoral head and neck HP:0009107 rdfs:label nl Afwijkende ossificatie waarbij de femurkop en collum betrokken zijn CANDIDATE +en Abnormal ossification of the pubic bone HP:0009105 rdfs:label nl Afwijkende ossificatie van het os pubis CANDIDATE +en Abnormal ossification of the sacrum HP:0025370 rdfs:label nl Afwijkende ossificatie van het sacrum CANDIDATE +en Abnormal ossification of the scaphoid HP:0045003 rdfs:label nl Afwijkende ossificatie van het os scaphoideum CANDIDATE +en Abnormal ossification of the trapezium HP:0045001 rdfs:label nl Afwijkende ossificatie van het trapezium CANDIDATE +en Abnormal ossification of the trapezoid bone HP:0045004 rdfs:label nl Afwijkende ossificatie van het os trapezium CANDIDATE +en Abnormal osteoclast count HP:0030327 rdfs:label nl Afwijkend aantal van osteoclasten CANDIDATE +en Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta HP:0002636 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation in the iliac artery HP:4000067 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in the iliac artery NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart HP:0002617 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation in the wall of the celiac artery HP:0100858 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in the wall of the celiac artery NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery HP:0100860 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery HP:0011934 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery HP:0100859 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery HP:0034179 IAO:0000115 nl Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery NOT_TRANSLATED +en Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve HP:0011645 IAO:0000115 nl Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve NOT_TRANSLATED +en Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage HP:0000893 IAO:0000115 nl Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage NOT_TRANSLATED +en Abnormal ovarian morphology HP:0031065 rdfs:label nl Afwijkende ovarium morfologie CANDIDATE +en Abnormal ovarian physiology HP:0031066 rdfs:label nl Afwijkende ovarium fysiologie CANDIDATE +en Abnormal oxygen level in cord blood HP:0500259 rdfs:label nl Abnormal oxygen level in cord blood NOT_TRANSLATED +en Abnormal palate morphology HP:0000174 rdfs:label nl Afwijking van het gehemelte CANDIDATE +en Abnormal palatine bone morphology HP:0430003 rdfs:label nl Afwijking van het os palatinum CANDIDATE +en Abnormal palm morphology HP:0100871 rdfs:label nl Afwijking van de palm CANDIDATE +en Abnormal palmar dermal ridges HP:0007608 rdfs:label nl Abnormal palmar dermal ridges NOT_TRANSLATED +en Abnormal palmar dermatoglyphics HP:0001018 rdfs:label nl Abnormale palmaire dermatoglyfen CANDIDATE +en Abnormal pancreas morphology HP:0012090 rdfs:label nl Afwijking van pancreas morfologie CANDIDATE +en Abnormal pancreas size HP:0012094 rdfs:label nl Afwijkende pancreas grootte CANDIDATE +en Abnormal pancreatic duct morphology HP:0030992 rdfs:label nl Afwijkende ductus pancreaticus morfologie CANDIDATE +en Abnormal paracentral response of multifocal electroretinogram HP:0030489 rdfs:label nl Afwijkende paracentrale respons op multifocaal elektroretinogram CANDIDATE +en Abnormal paranasal sinus morphology HP:0000245 rdfs:label nl Afwijking van de paranasale sinussen CANDIDATE +en Abnormal parietal bone morphology HP:0002696 rdfs:label nl Afwijking van os parietale CANDIDATE +en Abnormal parotid gland morphology HP:0000197 rdfs:label nl Afwijking van parotide klier CANDIDATE +en Abnormal patella morphology HP:0003045 rdfs:label nl Afwijking van de patella CANDIDATE +en Abnormal pattern electroretinogram HP:0030467 rdfs:label nl Abnormal pattern electroretinogram NOT_TRANSLATED +en Abnormal pattern of respiration HP:0002793 rdfs:label nl Abnormaal patroon van ademhaling CANDIDATE +en Abnormal pectoral muscle morphology HP:0011957 rdfs:label nl Afwijking van de musculus pectoralis CANDIDATE +en Abnormal pelvic girdle bone morphology HP:0002644 rdfs:label nl Afwijking van de bekkengrodel morfologie CANDIDATE +en Abnormal pelvis bone morphology HP:0040163 rdfs:label nl Afwijkende bekkenbot morfologie CANDIDATE +en Abnormal pelvis bone ossification HP:0009106 rdfs:label nl Abnormale bekkenbot ossificatie CANDIDATE +en Abnormal penis morphology HP:0000036 rdfs:label nl Afwijking van de penis CANDIDATE +en Abnormal periauricular region morphology HP:0000383 rdfs:label nl Afwijking van periauriculaire regio CANDIDATE +en Abnormal pericardium morphology HP:0001697 rdfs:label nl Afwijking van het hartzakje CANDIDATE +en Abnormal perifollicular morphology HP:0031285 rdfs:label nl Afwijkende perifolliculaire morfologie CANDIDATE +en Abnormal periodontium morphology HP:0410026 rdfs:label nl Afwijking van het periodontium CANDIDATE +en Abnormal periosteum morphology HP:0030313 rdfs:label nl Afwijkende periosteum morfologie CANDIDATE +en Abnormal peripheral action potential amplitude HP:0030179 rdfs:label nl Afwijkende amplitude van perifeer actiepotentiaal CANDIDATE +en Abnormal peripheral myelination HP:0003130 rdfs:label nl Abnormale perifere myelinisatie CANDIDATE +en Abnormal peripheral nervous system ganglion morphology HP:0410015 rdfs:label nl Afwijking van ganglion van perifeer zenuwstelsel CANDIDATE +en Abnormal peripheral nervous system morphology HP:0000759 rdfs:label nl Abnormale perifere zenuwstelsel morfologie CANDIDATE +en Abnormal peripheral nervous system physiology HP:0032120 rdfs:label nl Abnormal peripheral nervous system physiology NOT_TRANSLATED +en Abnormal peripheral nervous system synaptic transmission HP:0030191 rdfs:label nl Afwijkende perifere zenuwstelsel synaptische transmissie CANDIDATE +en Abnormal peristalsis HP:0030914 rdfs:label nl Afwijkende peristaltiek CANDIDATE +en Abnormal peritubular capillary morphology HP:0033859 rdfs:label nl Abnormal peritubular capillary morphology NOT_TRANSLATED +en Abnormal periventricular white matter morphology HP:0002518 rdfs:label nl Afwijking van de periventriculaire witte stof CANDIDATE +en Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater HP:0011648 IAO:0000115 nl Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater NOT_TRANSLATED +en Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation HP:0011649 IAO:0000115 nl Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation NOT_TRANSLATED +en Abnormal phagocytosis HP:0010977 rdfs:label nl Afwijking van de fagocyten CANDIDATE +en Abnormal phalangeal joint morphology of the hand HP:0006261 rdfs:label nl Afwijking van falangeale gewrichten van de hand CANDIDATE +en Abnormal pharynx morphology HP:0033151 rdfs:label nl Abnormal pharynx morphology NOT_TRANSLATED +en Abnormal pharynx physiology HP:0033152 rdfs:label nl Abnormal pharynx physiology NOT_TRANSLATED +en Abnormal phosphoribosylpyrophosphate synthetase level HP:0032459 rdfs:label nl Abnormal phosphoribosylpyrophosphate synthetase level NOT_TRANSLATED +en Abnormal phytanic acid:pristanic acid ratio HP:0034448 rdfs:label nl Abnormal phytanic acid:pristanic acid ratio NOT_TRANSLATED +en Abnormal pia mater HP:0100701 rdfs:label nl Afwijking van het pia mater CANDIDATE +en Abnormal pigmentation of the iris HP:0008034 IAO:0000115 nl Abnormal pigmentation of the iris NOT_TRANSLATED +en Abnormal pigmentation of the oral mucosa HP:0100669 rdfs:label nl Afwijkende pigmentatie van de orale mucosa CANDIDATE +en Abnormal pineal melatonin secretion HP:0012689 rdfs:label nl Afwijkende epifyse melatonine secretie CANDIDATE +en Abnormal pineal morphology HP:0012681 rdfs:label nl Afwijking van epifyse morfologie CANDIDATE +en Abnormal pineal volume HP:0012684 rdfs:label nl Afwijkend epifyse volume CANDIDATE +en Abnormal pinhole visual acuity test HP:0030535 rdfs:label nl Afwijkende visustest met stenopeïsche opening CANDIDATE +en Abnormal pinna morphology HP:0000377 rdfs:label nl Afwijking van de pinna CANDIDATE +en Abnormal pituitary glycoprotein hormone alpha subunit level HP:0032481 rdfs:label nl Abnormal pituitary glycoprotein hormone alpha subunit level NOT_TRANSLATED +en Abnormal placenta morphology HP:0100767 rdfs:label nl Afwijking van de placenta CANDIDATE +en Abnormal placental adhesion into the uterine wall HP:0025652 rdfs:label nl Abnormal placental adhesion into the uterine wall NOT_TRANSLATED +en Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta HP:0025652 IAO:0000115 nl Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta NOT_TRANSLATED +en Abnormal placental membrane morphology HP:0011409 rdfs:label nl Afwijking van placenta membranen CANDIDATE +en Abnormal placental pentration into but not beyond the uterine wall HP:0025655 IAO:0000115 nl Abnormal placental pentration into but not beyond the uterine wall NOT_TRANSLATED +en Abnormal placental size HP:0012767 rdfs:label nl Afwijkende grootte van de placenta CANDIDATE +en Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal HP:0011602 IAO:0000115 nl Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal NOT_TRANSLATED +en Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal HP:0011601 IAO:0000115 nl Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal NOT_TRANSLATED +en Abnormal plane of direction of the heart from the base to the apex. Left sided is normal HP:0011600 IAO:0000115 nl Abnormal plane of direction of the heart from the base to the apex. Left sided is normal NOT_TRANSLATED +en Abnormal plantar dermatoglyphics HP:0010506 rdfs:label nl Afwijkende palmaire dermatoglyfen CANDIDATE +en Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees HP:0008138 IAO:0000115 nl Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees NOT_TRANSLATED +en Abnormal plasma cell count HP:0025617 rdfs:label nl Abnormal plasma cell count NOT_TRANSLATED +en Abnormal plasmablast proportion HP:0032127 rdfs:label nl Abnormal plasmablast proportion NOT_TRANSLATED +en Abnormal platelet ATP dense granule secretion HP:0030398 rdfs:label nl Afwijkende bloedplaatjes ATP dense granule secretie CANDIDATE +en Abnormal platelet aggregation HP:0030402 rdfs:label nl Afwijkende bloedplaatjesaggregatie CANDIDATE +en Abnormal platelet alpha granule secretion HP:0030399 rdfs:label nl Afwijkende bloedplaatjes alfa-granule secretie CANDIDATE +en Abnormal platelet count HP:0011873 rdfs:label nl Afwijkend aantal van bloedplaatjes CANDIDATE +en Abnormal platelet dense granule ATP/ADP ratio HP:0030401 rdfs:label nl Afwijkende bloedplaatjes dense granule ATP/ADP ratio CANDIDATE +en Abnormal platelet dense granule secretion HP:0030397 rdfs:label nl Afwijkende bloedplaatjes dense granule secretie CANDIDATE +en Abnormal platelet function HP:0011869 rdfs:label nl Afwijkende bloedplaatjes functie CANDIDATE +en Abnormal platelet granule secretion HP:0030396 rdfs:label nl Afwijkende bloedplaatjes granule secretie CANDIDATE +en Abnormal platelet granules HP:0011883 rdfs:label nl Afwijkende bloedplaatjes granules CANDIDATE +en Abnormal platelet lysosome secretion HP:0030400 rdfs:label nl Afwijkende bloedplaatjes lysosoom secretie CANDIDATE +en Abnormal platelet membrane protein expression HP:0011878 rdfs:label nl Afwijkende bloedplaatjes membraan eiwit expressie CANDIDATE +en Abnormal platelet morphology HP:0011875 rdfs:label nl Afwijkende bloedplaatjes morfologie CANDIDATE +en Abnormal platelet phosphatidylserine exposure HP:0031131 rdfs:label nl Abnormal platelet phosphatidylserine exposure NOT_TRANSLATED +en Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP HP:0004866 IAO:0000115 nl Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP NOT_TRANSLATED +en Abnormal platelet shape HP:0012524 rdfs:label nl Afwijkende vorm van bloedplaatjes CANDIDATE +en Abnormal platelet volume HP:0011876 rdfs:label nl Afwijkend bloedplaatjes volume CANDIDATE +en Abnormal platysma muscle morphology HP:3000013 rdfs:label nl Afwijking van platysma CANDIDATE +en Abnormal pleura morphology HP:0002103 rdfs:label nl Afwijking van de pleura CANDIDATE +en Abnormal pons morphology HP:0007361 rdfs:label nl Afwijking van de pons CANDIDATE +en Abnormal portal artery morphology HP:4000147 rdfs:label nl Abnormal portal artery morphology NOT_TRANSLATED +en Abnormal portal venous system morphology HP:0031941 rdfs:label nl Abnormal portal venous system morphology NOT_TRANSLATED +en Abnormal position of hair whorl HP:0010814 rdfs:label nl Abnormal position of hair whorl NOT_TRANSLATED +en Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum HP:0000047 IAO:0000115 nl Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum NOT_TRANSLATED +en Abnormal positioning in which the elbows are turned out HP:0002967 IAO:0000115 nl Abnormal positioning in which the elbows are turned out NOT_TRANSLATED +en Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes HP:0034398 IAO:0000115 nl Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes NOT_TRANSLATED +en Abnormal posterior circulating artery morphology HP:0031772 rdfs:label nl Abnormal posterior circulating artery morphology NOT_TRANSLATED +en Abnormal posterior cranial fossa morphology HP:0000932 rdfs:label nl Afwijking van de posterieure craniale fossa CANDIDATE +en Abnormal posterior eye segment morphology HP:0004329 rdfs:label nl Afwijkende morfologie van het achterste segment van de oogbol CANDIDATE +en Abnormal posterior segment imaging HP:0030601 rdfs:label nl Afwijkende posterieur segment beeldvorming CANDIDATE +en Abnormal postural reflex HP:0033329 rdfs:label nl Abnormal postural reflex NOT_TRANSLATED +en Abnormal posturing HP:0002533 rdfs:label nl Abnormale houding CANDIDATE +en Abnormal preimplantation embryonic development HP:0033335 rdfs:label nl Abnormal preimplantation embryonic development NOT_TRANSLATED +en Abnormal premolar morphology HP:0011080 rdfs:label nl Afwijking van premolaar morfologie CANDIDATE +en Abnormal preputium morphology HP:0100587 rdfs:label nl Afwijking van het preputium CANDIDATE +en Abnormal presence of ultra-large von Willebrand factor multimers HP:0030133 rdfs:label nl Abnormale aanwezigheid van ultra-grote von Willebrand factor multimeren CANDIDATE +en Abnormal proerythroblast morphology HP:0025035 rdfs:label nl Afwijkende pro-erythroblast morfologie CANDIDATE +en Abnormal prolactin level HP:0040086 rdfs:label nl Afwijking van prolactine niveau CANDIDATE +en Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium HP:0011673 IAO:0000115 nl Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium NOT_TRANSLATED +en Abnormal prominence of the chin related to increased length of the mandible HP:0000303 IAO:0000115 nl Abnormal prominence of the chin related to increased length of the mandible NOT_TRANSLATED +en Abnormal prominence of the corneal nerve fibers HP:0010726 IAO:0000115 nl Abnormal prominence of the corneal nerve fibers NOT_TRANSLATED +en Abnormal proportion of CD4+ central memory cells HP:0025620 rdfs:label nl Abnormal proportion of CD4+ central memory cells NOT_TRANSLATED +en Abnormal proportion of CD4+ effector memory cells HP:0025623 rdfs:label nl Abnormal proportion of CD4+ effector memory cells NOT_TRANSLATED +en Abnormal proportion of CD4-positive T cells HP:0031392 rdfs:label nl Afwijkende proportie van CD4 T-cellen CANDIDATE +en Abnormal proportion of CD4-positive helper T cells HP:0500267 rdfs:label nl Abnormal proportion of CD4-positive helper T cells NOT_TRANSLATED +en Abnormal proportion of CD4-positive, alpha-beta memory T cells HP:0410379 rdfs:label nl Abnormal proportion of CD4-positive, alpha-beta memory T cells NOT_TRANSLATED +en Abnormal proportion of CD8-positive T cells HP:0031393 rdfs:label nl Afwijkende proportie van CD8 T-cellen CANDIDATE +en Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells HP:0020177 rdfs:label nl Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells NOT_TRANSLATED +en Abnormal proportion of CD8-positive, alpha-beta memory T cells HP:0410380 rdfs:label nl Abnormal proportion of CD8-positive, alpha-beta memory T cells NOT_TRANSLATED +en Abnormal proportion of central memory CD4-positive, alpha-beta T cells HP:0410381 rdfs:label nl Abnormal proportion of central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED +en Abnormal proportion of central memory CD8-positive, alpha-beta T cells HP:0410384 rdfs:label nl Abnormal proportion of central memory CD8-positive, alpha-beta T cells NOT_TRANSLATED +en Abnormal proportion of class-switched memory B cells HP:0030386 rdfs:label nl Afwijkende proportie van class-switched geheugen B-cellen CANDIDATE +en Abnormal proportion of double-negative alpha-beta regulatory T cell HP:0031399 rdfs:label nl Afwijkende proportie van dubbel-negatieve, alfa-beta, regulatoire T-cellen CANDIDATE +en Abnormal proportion of effector memory CD8-positive, alpha-beta T cells HP:0410383 rdfs:label nl Abnormal proportion of effector memory CD8-positive, alpha-beta T cells NOT_TRANSLATED +en Abnormal proportion of exhausted T cells HP:0041080 rdfs:label nl Abnormal proportion of exhausted T cells NOT_TRANSLATED +en Abnormal proportion of gamma-delta T cells HP:0500269 rdfs:label nl Abnormal proportion of gamma-delta T cells NOT_TRANSLATED +en Abnormal proportion of gamma-delta T cells relative to the total number of T cells HP:0500269 IAO:0000115 nl Abnormal proportion of gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED +en Abnormal proportion of helper T cells relative to the total number of T cells HP:0500263 IAO:0000115 nl Abnormal proportion of helper T cells relative to the total number of T cells NOT_TRANSLATED +en Abnormal proportion of immature B cells HP:0030376 rdfs:label nl Afwijkende proportie van onrijpe B-cellen CANDIDATE +en Abnormal proportion of immature gamma-delta T cells HP:0500272 rdfs:label nl Abnormal proportion of immature gamma-delta T cells NOT_TRANSLATED +en Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells HP:0500272 IAO:0000115 nl Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED +en Abnormal proportion of marginal zone B cells HP:0030383 rdfs:label nl Afwijkende proportie van marginale zone B-cellen CANDIDATE +en Abnormal proportion of memory B cells HP:0030373 rdfs:label nl Afwijkende proportie van B-geheugencellen CANDIDATE +en Abnormal proportion of memory T cells HP:0032182 rdfs:label nl Abnormal proportion of memory T cells NOT_TRANSLATED +en Abnormal proportion of naive B cells HP:0030370 rdfs:label nl Afwijkende proportie van naïeve B cellen CANDIDATE +en Abnormal proportion of naive CD4 T cells HP:0410373 rdfs:label nl Abnormal proportion of naive CD4 T cells NOT_TRANSLATED +en Abnormal proportion of naive CD8 T cells HP:0410374 rdfs:label nl Abnormal proportion of naive CD8 T cells NOT_TRANSLATED +en Abnormal proportion of naive T cells HP:0031396 rdfs:label nl Afwijkende proportie van naïeve T-cellen CANDIDATE +en Abnormal proportion of transitional B cells HP:0030379 rdfs:label nl Afwijkende proportie van transitionele B-cellen CANDIDATE +en Abnormal proportion of unswitched memory B cells HP:0032124 rdfs:label nl Abnormal proportion of unswitched memory B cells NOT_TRANSLATED +en Abnormal prostate morphology HP:0008775 rdfs:label nl Afwijking van de prostaat CANDIDATE +en Abnormal protein N-linked glycosylation HP:0012347 rdfs:label nl Afwijkende eiwit N-glycosylatie CANDIDATE +en Abnormal protein O-linked glycosylation HP:0012358 rdfs:label nl Afwijkende eiwit O-glycosylatie CANDIDATE +en Abnormal protein glycosylation HP:0012346 rdfs:label nl Afwijkende eiwit glycosylatie CANDIDATE +en Abnormal prothrombin time HP:0032199 rdfs:label nl Abnormal prothrombin time NOT_TRANSLATED +en Abnormal protrusion of the scapula away from the surface of the back HP:0003691 IAO:0000115 nl Abnormal protrusion of the scapula away from the surface of the back NOT_TRANSLATED +en Abnormal proximal phalanx morphology of the hand HP:0009834 rdfs:label nl Afwijking van de proximale falangen van de handen CANDIDATE +en Abnormal proximal ulnar epiphysis morphology HP:0010601 rdfs:label nl Afwijking van de proximale epifyse van de ulna CANDIDATE +en Abnormal pulmonary alveolar system development HP:4000060 rdfs:label nl Abnormal pulmonary alveolar system development NOT_TRANSLATED +en Abnormal pulmonary alveolar system morphology HP:0033137 rdfs:label nl Abnormal pulmonary alveolar system morphology NOT_TRANSLATED +en Abnormal pulmonary artery morphology HP:0030966 rdfs:label nl Afwijkende arteria pulmonalis morfologie CANDIDATE +en Abnormal pulmonary artery physiology HP:0030967 rdfs:label nl Afwijkende arteria pulmonalis fysiologie CANDIDATE +en Abnormal pulmonary fissure architecture HP:0032992 rdfs:label nl Abnormal pulmonary fissure architecture NOT_TRANSLATED +en Abnormal pulmonary fissure count HP:0032993 rdfs:label nl Abnormal pulmonary fissure count NOT_TRANSLATED +en Abnormal pulmonary fissure morphology HP:0032991 rdfs:label nl Abnormal pulmonary fissure morphology NOT_TRANSLATED +en Abnormal pulmonary interstitial morphology HP:0006530 rdfs:label nl Interstitiële pulmonale afwijking CANDIDATE +en Abnormal pulmonary lymphatics HP:0006529 rdfs:label nl Afwijkende pulmonale lymfevaten CANDIDATE +en Abnormal pulmonary situs morphology HP:0011615 rdfs:label nl Abnormale pulmonale situs morfologie CANDIDATE +en Abnormal pulmonary thoracic imaging finding HP:0031983 rdfs:label nl Abnormal pulmonary thoracic imaging finding NOT_TRANSLATED +en Abnormal pulmonary valve cusp morphology HP:0031566 rdfs:label nl Afwijkende pulmonaalklep cusp morfologie CANDIDATE +en Abnormal pulmonary valve morphology HP:0001641 rdfs:label nl Afwijking van de pulmonale klep CANDIDATE +en Abnormal pulmonary valve physiology HP:0031654 rdfs:label nl Afwijkende pulmonaalklep fysiologie CANDIDATE +en Abnormal pulmonary vein morphology HP:0030968 rdfs:label nl Afwijkende vena pulmonalis morfologie CANDIDATE +en Abnormal pulmonary vein physiology HP:0030969 rdfs:label nl Afwijkende vena pulmonalis fysiologie CANDIDATE +en Abnormal pulse HP:0032552 rdfs:label nl Abnormal pulse NOT_TRANSLATED +en Abnormal pulse pressure HP:0030850 rdfs:label nl Afwijkende polsdruk CANDIDATE +en Abnormal pupil morphology HP:0000615 rdfs:label nl Afwijking van de pupil CANDIDATE +en Abnormal pupil shape HP:0025309 rdfs:label nl Afwijkende vorm van pupil CANDIDATE +en Abnormal pupillary function HP:0007686 rdfs:label nl Afwijkende pupil functie CANDIDATE +en Abnormal pupillary light reflex HP:0007695 rdfs:label nl Afwijkende pupilreflex CANDIDATE +en Abnormal putamen morphology HP:0031982 rdfs:label nl Abnormal putamen morphology NOT_TRANSLATED +en Abnormal pyramidal sign HP:0007256 rdfs:label nl Afwijkende piramidale tekenen CANDIDATE +en Abnormal radial artery morphology HP:0031640 rdfs:label nl Afwijkende arteria radialis morfologie CANDIDATE +en Abnormal radial metaphysis morphology HP:0004015 rdfs:label nl Afwijking van metafysen van de radius CANDIDATE +en Abnormal radial ray morphology HP:0410049 rdfs:label nl Abnormal radial ray morphology NOT_TRANSLATED +en Abnormal radioactive iodine uptake test result HP:0031221 rdfs:label nl Afwijkende radioactief jodium opname testuitslag CANDIDATE +en Abnormal rapid eye movement sleep HP:0002494 rdfs:label nl Abnormale REM slaap CANDIDATE +en Abnormal rectum morphology HP:0002034 rdfs:label nl Afwijking van het rectum CANDIDATE +en Abnormal rectus muscle physiology HP:0031755 rdfs:label nl Afwijkende rectus spier fysiologie CANDIDATE +en Abnormal red blood cell count HP:0020058 rdfs:label nl Abnormal red blood cell count NOT_TRANSLATED +en Abnormal red nucleus morphology HP:0033679 rdfs:label nl Abnormal red nucleus morphology NOT_TRANSLATED +en Abnormal reduction in length affecting all phalanges HP:0011910 IAO:0000115 nl Abnormal reduction in length affecting all phalanges NOT_TRANSLATED +en Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue HP:0031462 IAO:0000115 nl Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue NOT_TRANSLATED +en Abnormal reduction in length of all metacarpal bones HP:0005720 IAO:0000115 nl Abnormal reduction in length of all metacarpal bones NOT_TRANSLATED +en Abnormal reduction in length of proximal phalanx of third toe HP:0100395 IAO:0000115 nl Abnormal reduction in length of proximal phalanx of third toe NOT_TRANSLATED +en Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone) HP:0005474 IAO:0000115 nl Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone) NOT_TRANSLATED +en Abnormal reduction in the count of eosinophils in the blood per volume HP:0031891 IAO:0000115 nl Abnormal reduction in the count of eosinophils in the blood per volume NOT_TRANSLATED +en Abnormal reflex HP:0031826 rdfs:label nl Abnormal reflex NOT_TRANSLATED +en Abnormal regional left ventricular contraction HP:0031482 rdfs:label nl Afwijkende regionale linker ventrikel contractie CANDIDATE +en Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces HP:0034471 IAO:0000115 nl Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces NOT_TRANSLATED +en Abnormal release of alpha granule contents from platelets HP:0030399 IAO:0000115 nl Abnormal release of alpha granule contents from platelets NOT_TRANSLATED +en Abnormal release of dense granules from platelets HP:0030397 IAO:0000115 nl Abnormal release of dense granules from platelets NOT_TRANSLATED +en Abnormal release of lysosome contents from platelets HP:0030400 IAO:0000115 nl Abnormal release of lysosome contents from platelets NOT_TRANSLATED +en Abnormal renal arteriole endothelium morphology HP:0033895 rdfs:label nl Abnormal renal arteriole endothelium morphology NOT_TRANSLATED +en Abnormal renal arteriole intima/media morphology HP:0033892 rdfs:label nl Abnormal renal arteriole intima/media morphology NOT_TRANSLATED +en Abnormal renal arteriole lumen morphology HP:0033890 rdfs:label nl Abnormal renal arteriole lumen morphology NOT_TRANSLATED +en Abnormal renal arteriole morphology HP:0033889 rdfs:label nl Abnormal renal arteriole morphology NOT_TRANSLATED +en Abnormal renal artery morphology HP:0008776 rdfs:label nl Afwijkende arteria renalis morfologie CANDIDATE +en Abnormal renal calyx morphology HP:0011130 rdfs:label nl Afwijking van renale kelk morfologie CANDIDATE +en Abnormal renal collecting system morphology HP:0004742 rdfs:label nl Afwijking van het renale verzamelsysteem CANDIDATE +en Abnormal renal corpuscle morphology HP:0031263 rdfs:label nl Afwijkende lichaampje van Malpighi morfologie CANDIDATE +en Abnormal renal cortex morphology HP:0011035 rdfs:label nl Afwijking van de morfologie van de renale cortex CANDIDATE +en Abnormal renal corticomedullary differentiation HP:0005932 rdfs:label nl Afwijking van renale corticomedullaire differentiatie CANDIDATE +en Abnormal renal echogenicity HP:0033130 rdfs:label nl Abnormal renal echogenicity NOT_TRANSLATED +en Abnormal renal glomerulus morphology HP:0000095 rdfs:label nl Afwijking van de glomerulus CANDIDATE +en Abnormal renal insterstitial morphology HP:0032581 rdfs:label nl Abnormal renal insterstitial morphology NOT_TRANSLATED +en Abnormal renal medulla morphology HP:0100957 rdfs:label nl Afwijking van het niermerg CANDIDATE +en Abnormal renal morphology HP:0012210 rdfs:label nl Afwijkende renale morfologie CANDIDATE +en Abnormal renal pelvis morphology HP:0010944 rdfs:label nl Afwijking van het nierbekken CANDIDATE +en Abnormal renal physiology HP:0012211 rdfs:label nl Afwijkende renale fysiologie CANDIDATE +en Abnormal renal tubular epithelial morphology HP:0032599 rdfs:label nl Abnormal renal tubular epithelial morphology NOT_TRANSLATED +en Abnormal renal tubular lumen morphology HP:0032950 rdfs:label nl Abnormal renal tubular lumen morphology NOT_TRANSLATED +en Abnormal renal tubular resorption HP:0011038 rdfs:label nl Afwijking van renale resorptie CANDIDATE +en Abnormal renal tubule morphology HP:0000091 rdfs:label nl Afwijking van de niertubulus CANDIDATE +en Abnormal renal vascular morphology HP:0033835 rdfs:label nl Abnormal renal vascular morphology NOT_TRANSLATED +en Abnormal reproductive system morphology HP:0012243 rdfs:label nl Afwijking van reproductieve systeem morfologie CANDIDATE +en Abnormal residual volume HP:0033752 rdfs:label nl Abnormal residual volume NOT_TRANSLATED +en Abnormal respiratory epithelium morphology HP:0012253 rdfs:label nl Afwijking van respiratoire epitheel morfologie CANDIDATE +en Abnormal respiratory motile cilium morphology HP:0005938 rdfs:label nl Afwijking van respiratoire trilhaar morfologie CANDIDATE +en Abnormal respiratory motile cilium physiology HP:0012261 rdfs:label nl Afwijking van respiratoire trilhaar fysiologie CANDIDATE +en Abnormal respiratory system morphology HP:0012252 rdfs:label nl Afwijking van respiratoire systeem morfologie CANDIDATE +en Abnormal respiratory system physiology HP:0002795 rdfs:label nl Afwijking in functionele ademhaling CANDIDATE +en Abnormal response to ACTH stimulation test HP:0031074 rdfs:label nl Afwijkende reactie op ACTH stimulatie test CANDIDATE +en Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid HP:0011870 IAO:0000115 nl Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid NOT_TRANSLATED +en Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore HP:0031130 IAO:0000115 nl Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore NOT_TRANSLATED +en Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics HP:0008320 IAO:0000115 nl Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics NOT_TRANSLATED +en Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP HP:0031128 IAO:0000115 nl Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP NOT_TRANSLATED +en Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin HP:0031127 IAO:0000115 nl Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin NOT_TRANSLATED +en Abnormal response to corticotropin releasing hormone stimulation test HP:0031077 rdfs:label nl Afwijkende reactie op corticotropine-releasing-hormoon stimulatie test CANDIDATE +en Abnormal response to endocrine stimulation test HP:0031073 rdfs:label nl Afwijkende reactie op endocriene stimulatie test CANDIDATE +en Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine HP:0008148 IAO:0000115 nl Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine NOT_TRANSLATED +en Abnormal response to glucagon stimulation test HP:0031080 rdfs:label nl Afwijkende reactie op glucagon stimulatie test CANDIDATE +en Abnormal response to gonadotropin-releasing hormone stimulation test HP:0031279 rdfs:label nl Afwijkende reactie op gonadotropine-releasing hormoon stimulatie test CANDIDATE +en Abnormal response to human chorionic gonadotrophin stimulation test HP:0031083 rdfs:label nl Abnormal response to human chorionic gonadotrophin stimulation test NOT_TRANSLATED +en Abnormal response to insulin tolerance test HP:0031075 rdfs:label nl Afwijkende reactie op insuline tolerantie test CANDIDATE +en Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA HP:0031129 IAO:0000115 nl Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA NOT_TRANSLATED +en Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma HP:0030136 IAO:0000115 nl Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma NOT_TRANSLATED +en Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin HP:0011871 IAO:0000115 nl Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin NOT_TRANSLATED +en Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma HP:0030129 IAO:0000115 nl Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma NOT_TRANSLATED +en Abnormal response to short acting pulmonary vasodilator HP:0030893 rdfs:label nl Afwijkende reactie op kort-werkende pulmonale vasodilatator CANDIDATE +en Abnormal response to social norms HP:5200123 rdfs:label nl Abnormale reactie op sociale normen OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics) HP:0011872 IAO:0000115 nl Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics) NOT_TRANSLATED +en Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists HP:0011894 IAO:0000115 nl Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists NOT_TRANSLATED +en Abnormal resting energy expenditure from metabolic cart test HP:0500019 rdfs:label nl Abnormal resting energy expenditure from metabolic cart test NOT_TRANSLATED +en Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field HP:0030588 IAO:0000115 nl Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field NOT_TRANSLATED +en Abnormal results from the diagnostic tests resulting from cardiac catheterization HP:0500017 IAO:0000115 nl Abnormal results from the diagnostic tests resulting from cardiac catheterization NOT_TRANSLATED +en Abnormal results of a MRI for the heart HP:0500016 IAO:0000115 nl Abnormal results of a MRI for the heart NOT_TRANSLATED +en Abnormal results of exercise on heart function HP:0500018 IAO:0000115 nl Abnormal results of exercise on heart function NOT_TRANSLATED +en Abnormal results of investigations using electromyography (EMG) HP:0003457 IAO:0000115 nl Abnormal results of investigations using electromyography (EMG) NOT_TRANSLATED +en Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration HP:0032968 IAO:0000115 nl Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration NOT_TRANSLATED +en Abnormal reticulocyte morphology HP:0004312 rdfs:label nl Afwijking van reticulocyten CANDIDATE +en Abnormal retinal artery morphology HP:0000630 rdfs:label nl Afwijking van retinale slagaders CANDIDATE +en Abnormal retinal morphology HP:0000479 rdfs:label nl Afwijking van de retina CANDIDATE +en Abnormal retinal morphology on macular OCT HP:0030612 rdfs:label nl Afwijkende retinale morfologie op macula OCT CANDIDATE +en Abnormal retinal nerve fiber layer morphology HP:0020119 rdfs:label nl Abnormal retinal nerve fiber layer morphology NOT_TRANSLATED +en Abnormal retinal vascular morphology HP:0008046 rdfs:label nl Afwijking van de retina vasculatuur CANDIDATE +en Abnormal retinol-binding protein level HP:0031031 rdfs:label nl Afwijkend retinol-bindend eiwit niveau CANDIDATE +en Abnormal rhythm of the heart HP:0003115 IAO:0000115 nl Abnormal rhythm of the heart NOT_TRANSLATED +en Abnormal rib cage morphology HP:0001547 rdfs:label nl Afwijking van de ribbenkast CANDIDATE +en Abnormal rib morphology HP:0000772 rdfs:label nl Afwijking van de ribben CANDIDATE +en Abnormal rib ossification HP:0012306 rdfs:label nl Afwijkende rib ossificatie CANDIDATE +en Abnormal right atrium morphology HP:0025580 rdfs:label nl Afwijkende rechter atrium morfologie CANDIDATE +en Abnormal right hemidiaphragm morphology HP:0040047 rdfs:label nl Afwijking van het rechter hemidiafragma CANDIDATE +en Abnormal right ventricle morphology HP:0001707 rdfs:label nl Afwijking van het rechterventrikel CANDIDATE +en Abnormal right ventricular function HP:0033118 rdfs:label nl Abnormal right ventricular function NOT_TRANSLATED +en Abnormal saccadic eye movements HP:0000570 rdfs:label nl Afwijking van saccadische oogbewegingen CANDIDATE +en Abnormal sacral segmentation HP:0008468 rdfs:label nl Afwijkende sacrale segmentatie CANDIDATE +en Abnormal sacroiliac joint morphology HP:0100781 rdfs:label nl Afwijking van het sacro-iliacale gewricht CANDIDATE +en Abnormal sacrum morphology HP:0005107 rdfs:label nl Afwijking van het sacrum CANDIDATE +en Abnormal salivary cortisol level HP:0033013 rdfs:label nl Abnormal salivary cortisol level NOT_TRANSLATED +en Abnormal salivary gland morphology HP:0010286 rdfs:label nl Afwijkende speekselklier morfologie CANDIDATE +en Abnormal salivary metabolite concentration HP:0033012 rdfs:label nl Abnormal salivary metabolite concentration NOT_TRANSLATED +en Abnormal sarcomere morphology HP:0020201 rdfs:label nl Abnormal sarcomere morphology NOT_TRANSLATED +en Abnormal scalp morphology HP:0001965 rdfs:label nl Afwijking van de scalp CANDIDATE +en Abnormal scapula morphology HP:0000782 rdfs:label nl Afwijking van het schouderblad CANDIDATE +en Abnormal sclera morphology HP:0000591 rdfs:label nl Afwijking van de sclera CANDIDATE +en Abnormal scrotal rugation HP:0012856 rdfs:label nl Abnormal scrotal rugation NOT_TRANSLATED +en Abnormal sebaceous gland morphology HP:0032226 rdfs:label nl Abnormal sebaceous gland morphology NOT_TRANSLATED +en Abnormal second heart sound HP:0031661 rdfs:label nl Afwijkende tweede harttoon CANDIDATE +en Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP) HP:0030398 IAO:0000115 nl Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP) NOT_TRANSLATED +en Abnormal sella turcica morphology HP:0002679 rdfs:label nl Afwijking van de sella turcica CANDIDATE +en Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause HP:0003401 IAO:0000115 nl Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause NOT_TRANSLATED +en Abnormal sensory nerve conduction velocity HP:0040132 rdfs:label nl Afwijkende sensorische zenuwgeleidingssnelheid CANDIDATE +en Abnormal septum pellucidum morphology HP:0007375 rdfs:label nl Afwijking van het septum pellucidum CANDIDATE +en Abnormal serum anion gap HP:0031961 rdfs:label nl Abnormal serum anion gap NOT_TRANSLATED +en Abnormal serum bicarbonate concentration HP:0032065 rdfs:label nl Abnormal serum bicarbonate concentration NOT_TRANSLATED +en Abnormal serum bile acid concentration HP:0030984 rdfs:label nl Afwijkende concentratie serum galzuur CANDIDATE +en Abnormal serum estradiol HP:0025133 rdfs:label nl Afwijkend serum estradiol CANDIDATE +en Abnormal serum estriol HP:0025135 rdfs:label nl Afwijkend serum estriol CANDIDATE +en Abnormal serum estrone HP:0025138 rdfs:label nl Afwijkend serum estron CANDIDATE +en Abnormal serum insulin-like growth factor 1 level HP:0030352 rdfs:label nl Afwikend serum insulin-like growth factor 1 niveau CANDIDATE +en Abnormal serum iron concentration HP:0040130 rdfs:label nl Afwijkend serum ijzer CANDIDATE +en Abnormal sex determination HP:0012244 rdfs:label nl Afwijkende geslachtsbepaling CANDIDATE +en Abnormal sex hormone-binding globulin level HP:0031438 rdfs:label nl Afwijkend sex-hormoon-bindend globuline niveau CANDIDATE +en Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle HP:0009657 IAO:0000115 nl Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle NOT_TRANSLATED +en Abnormal shape of the frontal region HP:0011218 rdfs:label nl Afwijkende vorm van de frontale regio CANDIDATE +en Abnormal shape of the occiput HP:0011217 rdfs:label nl Afwijkende vorm het achterhoofd CANDIDATE +en Abnormal shape of the palpebral fissure HP:0200005 rdfs:label nl Afwijkende vorm van de ooglidspleet CANDIDATE +en Abnormal shape of the radius HP:0045008 rdfs:label nl Afwijkende vorm van de radius CANDIDATE +en Abnormal shortening of all middle phalanges of toes HP:0006239 IAO:0000115 nl Abnormal shortening of all middle phalanges of toes NOT_TRANSLATED +en Abnormal shortening of the larynx in the anteroposterior (front to back) axis HP:0005956 IAO:0000115 nl Abnormal shortening of the larynx in the anteroposterior (front to back) axis NOT_TRANSLATED +en Abnormal shortness of the vertical dimensions of the eyelids HP:0430010 IAO:0000115 nl Abnormal shortness of the vertical dimensions of the eyelids NOT_TRANSLATED +en Abnormal shoulder morphology HP:0003043 rdfs:label nl Afwijking van de schouder CANDIDATE +en Abnormal shoulder physiology HP:0033129 rdfs:label nl Abnormal shoulder physiology NOT_TRANSLATED +en Abnormal sialylation of N-linked protein glycosylation HP:0012349 rdfs:label nl Afwijkende sialysatie van N-glycosylatie CANDIDATE +en Abnormal sialylation of O-linked protein glycosylation HP:0012362 rdfs:label nl Afwijkende sialysatie van O-glycosylatie CANDIDATE +en Abnormal single motor unit action potential HP:0033767 rdfs:label nl Abnormal single motor unit action potential NOT_TRANSLATED +en Abnormal sixth cranial nerve morphology HP:0011348 rdfs:label nl Afwijking van de zesde hersenzenuw CANDIDATE +en Abnormal size of nasopharyngeal adenoids HP:0040257 rdfs:label nl Afwijkende grootte van nasofaryngeale adenoïden CANDIDATE +en Abnormal size of pituitary gland HP:0012504 rdfs:label nl Afwijkende grootte van hypofyse CANDIDATE +en Abnormal size of the clitoris HP:0040252 rdfs:label nl Afwijkende grootte van de clitoris CANDIDATE +en Abnormal size of the dental root HP:0040220 rdfs:label nl Afwijkende grootte van de tandheelkundige wortel CANDIDATE +en Abnormal size of the palpebral fissures HP:0200007 rdfs:label nl Afwijkende grootte van de ooglidspleten CANDIDATE +en Abnormal skeletal morphology HP:0011842 rdfs:label nl Afwijking van skelet morfologie CANDIDATE +en Abnormal skeletal muscle morphology HP:0011805 rdfs:label nl Afwijking van spier morfologie CANDIDATE +en Abnormal skin morphology of the palm HP:0040211 rdfs:label nl Afwijking van de huid van de palm CANDIDATE +en Abnormal skinfold thickness measurement HP:0033170 rdfs:label nl Abnormal skinfold thickness measurement NOT_TRANSLATED +en Abnormal skull morphology HP:0000929 rdfs:label nl Afwijking van de schedel CANDIDATE +en Abnormal slowness of thought processes HP:0031843 IAO:0000115 nl Abnormal slowness of thought processes NOT_TRANSLATED +en Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes HP:0012850 IAO:0000115 nl Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes NOT_TRANSLATED +en Abnormal small intestinal mucosa morphology HP:0025129 rdfs:label nl Afwijkende dunne darm mucosa morfologie CANDIDATE +en Abnormal smallness of the lens HP:0012376 IAO:0000115 nl Abnormal smallness of the lens NOT_TRANSLATED +en Abnormal social behavior HP:0012433 rdfs:label nl Afwijkend sociaal gedrag CANDIDATE +en Abnormal social communication behavior HP:0034434 rdfs:label nl Abnormal social communication behavior NOT_TRANSLATED +en Abnormal soft palate morphology HP:0100736 rdfs:label nl Afwijking van het zachte gehemelte CANDIDATE +en Abnormal spaced incisors HP:0040159 rdfs:label nl Abnormaal uit elkaar geplaatste snijtanden CANDIDATE +en Abnormal spatial orientation of the cardiac segments HP:0011534 rdfs:label nl Abnormal spatial orientation of the cardiac segments NOT_TRANSLATED +en Abnormal speech discrimination HP:0001963 rdfs:label nl Abnormale spraak discriminatie CANDIDATE +en Abnormal speech prosody HP:0031434 rdfs:label nl Afwijkende spraak prosodie CANDIDATE +en Abnormal sperm axoneme morphology HP:0033524 rdfs:label nl Abnormal sperm axoneme morphology NOT_TRANSLATED +en Abnormal sperm head morphology HP:0012865 rdfs:label nl Abnormal sperm head morphology NOT_TRANSLATED +en Abnormal sperm mid-piece morphology HP:0012867 rdfs:label nl Abnormal sperm mid-piece morphology NOT_TRANSLATED +en Abnormal sperm morphology HP:0012864 rdfs:label nl Afwijkende sperma morfologie CANDIDATE +en Abnormal sperm motility HP:0012206 rdfs:label nl Afwijkende sperma motiliteit CANDIDATE +en Abnormal sperm neck morphology HP:0012866 rdfs:label nl Abnormal sperm neck morphology NOT_TRANSLATED +en Abnormal sperm principal piece morphology HP:0033523 rdfs:label nl Abnormal sperm principal piece morphology NOT_TRANSLATED +en Abnormal sperm tail morphology HP:0012868 rdfs:label nl Spermastaart afwijking CANDIDATE +en Abnormal spermatogenesis HP:0008669 rdfs:label nl Afwijkende spermatogenese CANDIDATE +en Abnormal spinal cord physiology HP:0034482 rdfs:label nl Abnormal spinal cord physiology NOT_TRANSLATED +en Abnormal spinal dura mater morphology HP:0009744 rdfs:label nl Afwijking van de spinale dura mater CANDIDATE +en Abnormal spinal meningeal morphology HP:0010303 rdfs:label nl Afwijking van de spinale meningen CANDIDATE +en Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle HP:0030285 IAO:0000115 nl Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle NOT_TRANSLATED +en Abnormal spleen morphology HP:0025408 rdfs:label nl Afwijkende milt morfologie CANDIDATE +en Abnormal spleen physiology HP:0025409 rdfs:label nl Afwijkende milt fysiologie CANDIDATE +en Abnormal sputum HP:0032016 rdfs:label nl Abnormal sputum NOT_TRANSLATED +en Abnormal static automated perimetry test HP:0030595 rdfs:label nl Afwijkende statische geautomatiseerde perimetrie test CANDIDATE +en Abnormal static perimetry test HP:0030592 rdfs:label nl Afwijkende statische perimetrie test CANDIDATE +en Abnormal stereopsis HP:0011515 rdfs:label nl Afwijkende binoculaire dispariteit CANDIDATE +en Abnormal sternal ossification HP:0011863 rdfs:label nl Afwijkende sternale ossificatie CANDIDATE +en Abnormal sternum morphology HP:0000766 rdfs:label nl Afwijking van het borstbeen CANDIDATE +en Abnormal stomach morphology HP:0002577 rdfs:label nl Afwijking van de maag CANDIDATE +en Abnormal stool composition HP:0031685 rdfs:label nl Afwijkende ontlasting samenstelling CANDIDATE +en Abnormal stool urobilinogen concentration HP:0500114 rdfs:label nl Abnormal stool urobilinogen concentration NOT_TRANSLATED +en Abnormal structural characteristics of the interior space (lumen) of renal arterioles HP:0033890 IAO:0000115 nl Abnormal structural characteristics of the interior space (lumen) of renal arterioles NOT_TRANSLATED +en Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney HP:0033896 IAO:0000115 nl Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney NOT_TRANSLATED +en Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney HP:0033875 IAO:0000115 nl Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney NOT_TRANSLATED +en Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus HP:0033267 IAO:0000115 nl Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus NOT_TRANSLATED +en Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney HP:0033884 IAO:0000115 nl Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney NOT_TRANSLATED +en Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney HP:0033863 IAO:0000115 nl Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney NOT_TRANSLATED +en Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney HP:0033868 IAO:0000115 nl Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney NOT_TRANSLATED +en Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney HP:0033952 IAO:0000115 nl Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney NOT_TRANSLATED +en Abnormal structure of a vein located inside the kidney parenchyma HP:0033852 IAO:0000115 nl Abnormal structure of a vein located inside the kidney parenchyma NOT_TRANSLATED +en Abnormal structure of the basement membrane of the renal tubulus HP:0020131 IAO:0000115 nl Abnormal structure of the basement membrane of the renal tubulus NOT_TRANSLATED +en Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis HP:0032580 IAO:0000115 nl Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis NOT_TRANSLATED +en Abnormal structure of the gastrointestinal tract HP:0012718 IAO:0000115 nl Abnormal structure of the gastrointestinal tract NOT_TRANSLATED +en Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement HP:0032190 IAO:0000115 nl Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement NOT_TRANSLATED +en Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida HP:0020156 IAO:0000115 nl Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida NOT_TRANSLATED +en Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC HP:0033524 IAO:0000115 nl Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC NOT_TRANSLATED +en Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins HP:0033723 IAO:0000115 nl Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins NOT_TRANSLATED +en Abnormal structure or form of the lumen (opening) of kidney tubules HP:0032950 IAO:0000115 nl Abnormal structure or form of the lumen (opening) of kidney tubules NOT_TRANSLATED +en Abnormal structure or form of trabecular bone HP:0100671 IAO:0000115 nl Abnormal structure or form of trabecular bone NOT_TRANSLATED +en Abnormal subarachnoid space morphology HP:0012703 rdfs:label nl Afwijking van de subarachnoïdale ruimte CANDIDATE +en Abnormal subclavian artery morphology HP:0031251 rdfs:label nl Afwijkende arteria subclavia morfologie CANDIDATE +en Abnormal subcutaneous fat tissue distribution HP:0007552 rdfs:label nl Afwijkende verdeling van subcutaan vetweefsel CANDIDATE +en Abnormal subpleural morphology HP:0031630 rdfs:label nl Afwijkende subpleurale morfologie CANDIDATE +en Abnormal substantia nigra morphology HP:0045007 rdfs:label nl Afwijking van de substantia nigra CANDIDATE +en Abnormal sudomotor regulation HP:0012333 rdfs:label nl Afwijkende sudomotore regulatie CANDIDATE +en Abnormal superficial reflex HP:0031828 rdfs:label nl Abnormal superficial reflex NOT_TRANSLATED +en Abnormal superior cerebellar peduncle morphology HP:0011932 rdfs:label nl Afwijking van de superieure cerebellaire peduncle CANDIDATE +en Abnormal superior oblique muscle physiology HP:0025591 rdfs:label nl Afwijkende musculus obliquus superior fysiologie CANDIDATE +en Abnormal superior rectus muscle physiology HP:0025603 rdfs:label nl Afwijkende musculus rectus superior bulbi fysiologie CANDIDATE +en Abnormal superior vena cava morphology HP:0025575 rdfs:label nl Afwijkende vena cava superior morfologie CANDIDATE +en Abnormal superoxide dismutase level HP:0031835 rdfs:label nl Abnormal superoxide dismutase level NOT_TRANSLATED +en Abnormal surface-connected open canalicular system HP:0012485 rdfs:label nl Abnormal surface-connected open canalicular system NOT_TRANSLATED +en Abnormal suspensory ligament of lens morphology HP:0012628 rdfs:label nl Afwijking van hetligamentum suspensorium Zinni CANDIDATE +en Abnormal sweat electrolytes HP:0040128 rdfs:label nl Afwijkende zweet elektrolyten CANDIDATE +en Abnormal sweat gland morphology HP:0000971 rdfs:label nl Afwijking van de zweetklier CANDIDATE +en Abnormal sweat homeostasis HP:0040127 rdfs:label nl Afwijkende zweet homeostase CANDIDATE +en Abnormal synaptic transmission HP:0012535 rdfs:label nl Afwijkende synaptische transmissie CANDIDATE +en Abnormal synaptic transmission at the neuromuscular junction HP:0003398 rdfs:label nl Abnormale synaptische transmissie van de neuromusculaire overgang CANDIDATE +en Abnormal synovial bursa morphology HP:0025231 rdfs:label nl Afwijking van de synoviale bursa morfologie CANDIDATE +en Abnormal systemic arterial morphology HP:0011004 rdfs:label nl Abnormale systemische arteriële morfologie CANDIDATE +en Abnormal systemic blood pressure HP:0030972 rdfs:label nl Afwijkende systemische bloeddruk CANDIDATE +en Abnormal talus morphology HP:0008365 rdfs:label nl Afwijking van de talus CANDIDATE +en Abnormal tarsal bone mineral density HP:0009132 rdfs:label nl Afwijkende tarsale bot mineraal dichtheid CANDIDATE +en Abnormal tarsal ossification HP:0008369 rdfs:label nl Afwijkende tarsale ossificatie CANDIDATE +en Abnormal telomere morphology HP:0031412 rdfs:label nl Afwijkende telomeer morfologie CANDIDATE +en Abnormal temper tantrums HP:0025160 rdfs:label nl Abnormale driftbuien CANDIDATE +en Abnormal temporal bone morphology HP:0009911 rdfs:label nl Afwijking van os temporale CANDIDATE +en Abnormal temporal lobe morphology HP:0034221 rdfs:label nl Abnormal temporal lobe morphology NOT_TRANSLATED +en Abnormal tendon morphology HP:0100261 rdfs:label nl Abnormale pees morfologie CANDIDATE +en Abnormal terminal:vellus ratio HP:0032495 rdfs:label nl Abnormal terminal:vellus ratio NOT_TRANSLATED +en Abnormal test result of cardiovascular physiology HP:0500015 IAO:0000115 nl Abnormal test result of cardiovascular physiology NOT_TRANSLATED +en Abnormal testis morphology HP:0000035 rdfs:label nl Afwijking van de testis CANDIDATE +en Abnormal thalamic MRI signal intensity HP:0012696 rdfs:label nl Afwijkende thalamus MRI signaal intensiteit CANDIDATE +en Abnormal thalamic size HP:0012693 rdfs:label nl Afwijkende thalamus grootte CANDIDATE +en Abnormal thickening of the cortex of long bones HP:0000935 IAO:0000115 nl Abnormal thickening of the cortex of long bones NOT_TRANSLATED +en Abnormal thickening of the cortex of the diaphyseal region of long bones HP:0005791 IAO:0000115 nl Abnormal thickening of the cortex of the diaphyseal region of long bones NOT_TRANSLATED +en Abnormal thickening of the skin localized to the palm of the hand HP:0010765 IAO:0000115 nl Abnormal thickening of the skin localized to the palm of the hand NOT_TRANSLATED +en Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot HP:0000972 IAO:0000115 nl Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot NOT_TRANSLATED +en Abnormal thickening of the skin of the palms of the hands and the soles of the feet HP:0000982 IAO:0000115 nl Abnormal thickening of the skin of the palms of the hands and the soles of the feet NOT_TRANSLATED +en Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis HP:0007404 IAO:0000115 nl Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis NOT_TRANSLATED +en Abnormal thickening of the skin on the palms and soles that is present at birth HP:0007545 IAO:0000115 nl Abnormal thickening of the skin on the palms and soles that is present at birth NOT_TRANSLATED +en Abnormal thickening of the skin on the palms and soles with an honeycomb pattern HP:0007465 IAO:0000115 nl Abnormal thickening of the skin on the palms and soles with an honeycomb pattern NOT_TRANSLATED +en Abnormal thinning of the cortical region of bones HP:0002753 IAO:0000115 nl Abnormal thinning of the cortical region of bones NOT_TRANSLATED +en Abnormal third ventricle morphology HP:0010951 rdfs:label nl Afwijking van het derde ventrikel CANDIDATE +en Abnormal thoracic duct morphology HP:0031278 rdfs:label nl Afwijkende ductus thoracicus morfologie CANDIDATE +en Abnormal thoracic spine morphology HP:0100711 rdfs:label nl Afwijking van de thoracale wervelkolom CANDIDATE +en Abnormal thorax morphology HP:0000765 rdfs:label nl Afwijking van de thorax CANDIDATE +en Abnormal thrombosis HP:0001977 rdfs:label nl Abnormale trombose CANDIDATE +en Abnormal thumb morphology HP:0001172 rdfs:label nl Afwijking van de duim CANDIDATE +en Abnormal thyroid morphology HP:0011772 rdfs:label nl Afwijking van de schildklier morfologie CANDIDATE +en Abnormal thyroid-stimulating hormone level HP:0031097 rdfs:label nl Afwijkend TSH niveau CANDIDATE +en Abnormal tibial metaphysis morphology HP:0006491 rdfs:label nl Afwijking van de metafyse van de tibia CANDIDATE +en Abnormal timing of dark-adapted bright flash electroretinogram HP:0030477 rdfs:label nl Abnormal timing of dark-adapted bright flash electroretinogram NOT_TRANSLATED +en Abnormal timing of dark-adapted dim flash electroretinogram HP:0030475 rdfs:label nl Abnormal timing of dark-adapted dim flash electroretinogram NOT_TRANSLATED +en Abnormal timing of flash visual evoked potentials HP:0030461 rdfs:label nl Abnormal timing of flash visual evoked potentials NOT_TRANSLATED +en Abnormal timing of light-adapted flicker electroretinogram HP:0030480 rdfs:label nl Abnormal timing of light-adapted flicker electroretinogram NOT_TRANSLATED +en Abnormal timing of light-adapted single flash electroretinogram HP:0030482 rdfs:label nl Abnormal timing of light-adapted single flash electroretinogram NOT_TRANSLATED +en Abnormal timing of pattern electroretinogram HP:0030486 rdfs:label nl Abnormal timing of pattern electroretinogram NOT_TRANSLATED +en Abnormal timing of pattern onset/offset visual evoked potentials HP:0030458 rdfs:label nl Abnormal timing of pattern onset/offset visual evoked potentials NOT_TRANSLATED +en Abnormal timing of pattern reversal visual evoked potentials HP:0030460 rdfs:label nl Abnormal timing of pattern reversal visual evoked potentials NOT_TRANSLATED +en Abnormal tissue metabolite concentration HP:0032243 rdfs:label nl Abnormal tissue metabolite concentration NOT_TRANSLATED +en Abnormal toenail morphology HP:0008388 rdfs:label nl Afwijkende teennagel morfologie CANDIDATE +en Abnormal tongue morphology HP:0030809 rdfs:label nl Afwijkende tong morfologie CANDIDATE +en Abnormal tongue physiology HP:0030810 rdfs:label nl Afwijkende tong fysiologie CANDIDATE +en Abnormal tortuous (i.e., twisted) form of arteries HP:0005116 IAO:0000115 nl Abnormal tortuous (i.e., twisted) form of arteries NOT_TRANSLATED +en Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries HP:0004955 IAO:0000115 nl Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries NOT_TRANSLATED +en Abnormal tortuous (i.e., twisted) form of the aorta HP:0006687 IAO:0000115 nl Abnormal tortuous (i.e., twisted) form of the aorta NOT_TRANSLATED +en Abnormal tortuous (i.e., twisted) form of the carotid arteries HP:0005302 IAO:0000115 nl Abnormal tortuous (i.e., twisted) form of the carotid arteries NOT_TRANSLATED +en Abnormal tortuous (i.e., twisted) form of the vertebral arteries HP:0033981 IAO:0000115 nl Abnormal tortuous (i.e., twisted) form of the vertebral arteries NOT_TRANSLATED +en Abnormal total hemolytic complement activity HP:0031904 rdfs:label nl Abnormal total hemolytic complement activity NOT_TRANSLATED +en Abnormal total iron binding capacity HP:0033212 rdfs:label nl Abnormal total iron binding capacity NOT_TRANSLATED +en Abnormal trabecular bone morphology HP:0100671 rdfs:label nl Abnormaal trabeculair bot morfologie CANDIDATE +en Abnormal trabecular meshwork morphology HP:0012630 rdfs:label nl Afwijkende trabeculair netwerk morfologie CANDIDATE +en Abnormal tracheal morphology HP:0002778 rdfs:label nl Afwijking van de trachea CANDIDATE +en Abnormal tracheobronchial morphology HP:0005607 rdfs:label nl Abnormal tracheobronchial morphology NOT_TRANSLATED +en Abnormal tragus morphology HP:0009912 rdfs:label nl Afwijking van de tragus CANDIDATE +en Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II HP:0003642 IAO:0000115 nl Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II NOT_TRANSLATED +en Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation HP:0012301 IAO:0000115 nl Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation NOT_TRANSLATED +en Abnormal transferrin saturation HP:0040135 rdfs:label nl Afwijkende transferrine saturatie CANDIDATE +en Abnormal triceps skinfold thickness HP:0033171 rdfs:label nl Abnormal triceps skinfold thickness NOT_TRANSLATED +en Abnormal tricuspid chordae tendinae morphology HP:0031442 rdfs:label nl Afwijkende tricuspidalis chordae tendineae morfologie CANDIDATE +en Abnormal tricuspid valve annulus morphology HP:0031441 rdfs:label nl Afwijkende tricuspidalis annulus morfologie CANDIDATE +en Abnormal tricuspid valve leaflet morphology HP:0031443 rdfs:label nl Abnormal tricuspid valve leaflet morphology NOT_TRANSLATED +en Abnormal tricuspid valve morphology HP:0001702 rdfs:label nl Afwijking van de tricuspidalisklep CANDIDATE +en Abnormal tricuspid valve physiology HP:0031651 rdfs:label nl Afwijkende tricuspidalisklep fysiologie CANDIDATE +en Abnormal tubular basement membrane morphology HP:0020131 rdfs:label nl Abnormal tubular basement membrane morphology NOT_TRANSLATED +en Abnormal tubulointerstitial morphology HP:0001969 rdfs:label nl Tubulointerstitiële abnormaliteit CANDIDATE +en Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue HP:0002580 IAO:0000115 nl Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue NOT_TRANSLATED +en Abnormal twisting of arteries or veins HP:0004948 IAO:0000115 nl Abnormal twisting of arteries or veins NOT_TRANSLATED +en Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions HP:0032973 IAO:0000115 nl Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions NOT_TRANSLATED +en Abnormal ulnar epiphysis morphology HP:0004037 rdfs:label nl Afwijking van de ulnaire epifysen CANDIDATE +en Abnormal ulnar metaphysis morphology HP:0004039 rdfs:label nl Afwijking van metafyse van de ulna CANDIDATE +en Abnormal ulnar styloid process morphology HP:0004035 rdfs:label nl Afwijking van het processus styloideus van ulna CANDIDATE +en Abnormal umbilical artery doppler waveform during pregnancy HP:0025715 rdfs:label nl Abnormal umbilical artery doppler waveform during pregnancy NOT_TRANSLATED +en Abnormal umbilical blood flow measurement HP:0025657 rdfs:label nl Abnormal umbilical blood flow measurement NOT_TRANSLATED +en Abnormal umbilical cord blood vessel morphology HP:0011403 rdfs:label nl Afwijkende navelstreng bloedvaten CANDIDATE +en Abnormal umbilical stump bleeding HP:0011884 rdfs:label nl Abnormal umbilical stump bleeding NOT_TRANSLATED +en Abnormal umbilicus morphology HP:0001551 rdfs:label nl Afwijking van de navel CANDIDATE +en Abnormal unaided visual acuity test HP:0030533 rdfs:label nl Afwijkende visustest zonder hulp CANDIDATE +en Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance HP:0034477 IAO:0000115 nl Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance NOT_TRANSLATED +en Abnormal upper limb bone morphology HP:0040070 rdfs:label nl Afwijking van bot van bovenste ledemaat CANDIDATE +en Abnormal upper limb metaphysis morphology HP:0009809 rdfs:label nl Afwijking van metafyse van bovenste ledematen CANDIDATE +en Abnormal upper lip morphology HP:0000177 rdfs:label nl Afwijking van bovenlip CANDIDATE +en Abnormal upper motor neuron morphology HP:0002127 rdfs:label nl Abnormale bovenste motor neuron morfologie CANDIDATE +en Abnormal upper to lower segment ratio HP:0012772 rdfs:label nl Afwijkend upper-to-lower segment ratio CANDIDATE +en Abnormal upper-limb motor evoked potentials HP:0012897 rdfs:label nl Afwijking van bovenste extremiteit motorisch opgewekte potentialen CANDIDATE +en Abnormal ureter morphology HP:0025633 rdfs:label nl Abnormal ureter morphology NOT_TRANSLATED +en Abnormal ureter physiology HP:0025634 rdfs:label nl Abnormal ureter physiology NOT_TRANSLATED +en Abnormal uridine diphosphate glucose-4-epimerase level HP:0410192 rdfs:label nl Abnormal uridine diphosphate glucose-4-epimerase level NOT_TRANSLATED +en Abnormal uridine diphosphate glucose-4-epimerase level in plasma HP:0410193 rdfs:label nl Abnormal uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED +en Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells HP:0410196 rdfs:label nl Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED +en Abnormal urinary 1-methylhistidine concentration HP:0410313 rdfs:label nl Abnormal urinary 1-methylhistidine concentration NOT_TRANSLATED +en Abnormal urinary 3-methylhistidine level HP:0410316 rdfs:label nl Abnormal urinary 3-methylhistidine level NOT_TRANSLATED +en Abnormal urinary acylglycine profile HP:0012073 rdfs:label nl Afwijkend urine acylglycine profiel CANDIDATE +en Abnormal urinary color HP:0012086 rdfs:label nl Afwijkende urine kleur CANDIDATE +en Abnormal urinary copper concentration HP:0045036 rdfs:label nl Afwijkende urine koper concentratie CANDIDATE +en Abnormal urinary electrolyte concentration HP:0012591 rdfs:label nl Afwijkende urine elektrolyt concentratie CANDIDATE +en Abnormal urinary mineral level HP:0025640 rdfs:label nl Abnormal urinary mineral level NOT_TRANSLATED +en Abnormal urinary non-proteinogenic amino acid level HP:0034027 rdfs:label nl Abnormal urinary non-proteinogenic amino acid level NOT_TRANSLATED +en Abnormal urinary nucleobase concentration HP:0032572 rdfs:label nl Abnormal urinary nucleobase concentration NOT_TRANSLATED +en Abnormal urinary odor HP:0012088 rdfs:label nl Afwijkende urine geur CANDIDATE +en Abnormal urinary purine level HP:0033161 rdfs:label nl Abnormal urinary purine level NOT_TRANSLATED +en Abnormal urinary pyrimidine level HP:0033162 rdfs:label nl Abnormal urinary pyrimidine level NOT_TRANSLATED +en Abnormal urinary sulfate concentration HP:0012612 rdfs:label nl Afwijkende sulfaat concentratie in urine CANDIDATE +en Abnormal urine alpha-ketoglutarate concentration HP:0012401 rdfs:label nl Abnormal urine alpha-ketoglutarate concentration NOT_TRANSLATED +en Abnormal urine carbohydrate level HP:0031979 rdfs:label nl Abnormal urine carbohydrate level NOT_TRANSLATED +en Abnormal urine carboxylic acid level HP:0031980 rdfs:label nl Abnormal urine carboxylic acid level NOT_TRANSLATED +en Abnormal urine chloride concentration HP:0012600 rdfs:label nl Afwijkende urine chloride concentratie CANDIDATE +en Abnormal urine citrate concentration HP:0012404 rdfs:label nl Abnormal urine citrate concentration NOT_TRANSLATED +en Abnormal urine cytology HP:0012614 rdfs:label nl Afwijkende urine cytologie CANDIDATE +en Abnormal urine hexanoylglycine concentration HP:0500254 rdfs:label nl Abnormal urine hexanoylglycine concentration NOT_TRANSLATED +en Abnormal urine hormone level HP:0012029 rdfs:label nl Afwijking van urine hormoon niveau CANDIDATE +en Abnormal urine isobutyrylglycine concentration HP:0500256 rdfs:label nl Abnormal urine isobutyrylglycine concentration NOT_TRANSLATED +en Abnormal urine magnesium concentration HP:0012607 rdfs:label nl Afwijkende urine magnesium concentratie CANDIDATE +en Abnormal urine metabolite level HP:0033354 rdfs:label nl Abnormal urine metabolite level NOT_TRANSLATED +en Abnormal urine osmolality HP:0033358 rdfs:label nl Abnormal urine osmolality NOT_TRANSLATED +en Abnormal urine output HP:0012590 rdfs:label nl Afwijkende urineproductie CANDIDATE +en Abnormal urine pH HP:0032943 rdfs:label nl Abnormal urine pH NOT_TRANSLATED +en Abnormal urine phosphate concentration HP:0012599 rdfs:label nl Afwijkende urine fosfaat concentratie CANDIDATE +en Abnormal urine potassium concentration HP:0012598 rdfs:label nl Afwijkende urine kalium concentratie CANDIDATE +en Abnormal urine protein level HP:0020129 rdfs:label nl Abnormal urine protein level NOT_TRANSLATED +en Abnormal urine sebacic acid concentration HP:0500251 rdfs:label nl Abnormal urine sebacic acid concentration NOT_TRANSLATED +en Abnormal urine sodium concentration HP:0012603 rdfs:label nl Afwijkende urine natrium concentratie CANDIDATE +en Abnormal urine urobilinogen level HP:0032472 rdfs:label nl Abnormal urine urobilinogen level NOT_TRANSLATED +en Abnormal uterine cervix morphology HP:0012888 rdfs:label nl Afwijking van de uteriene cervix CANDIDATE +en Abnormal uterus morphology HP:0031105 rdfs:label nl Afwijkende uterus morfologie CANDIDATE +en Abnormal uvea morphology HP:0000553 rdfs:label nl Afwijking van de uvea CANDIDATE +en Abnormal uvula morphology HP:0000172 rdfs:label nl Afwijking van de uvula CANDIDATE +en Abnormal vagina morphology HP:0000142 rdfs:label nl Afwijking van de vagina CANDIDATE +en Abnormal vaginal bleeding HP:0034263 rdfs:label nl Abnormal vaginal bleeding NOT_TRANSLATED +en Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal HP:0034263 IAO:0000115 nl Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal NOT_TRANSLATED +en Abnormal vaginal discharge HP:0034269 rdfs:label nl Abnormal vaginal discharge NOT_TRANSLATED +en Abnormal vaginal physiology HP:0034268 rdfs:label nl Abnormal vaginal physiology NOT_TRANSLATED +en Abnormal vas deferens morphology HP:0012872 rdfs:label nl Afwijkende vas deferens morfologie CANDIDATE +en Abnormal vasa vasorum morphology HP:0031465 rdfs:label nl Afwijkende vasa vasorum morfologie CANDIDATE +en Abnormal vascular morphology HP:0025015 rdfs:label nl Afwijkende vasculaire morfologie CANDIDATE +en Abnormal vascular physiology HP:0030163 rdfs:label nl Afwijkende vasculaire fysiologie CANDIDATE +en Abnormal vena cava morphology HP:0005345 rdfs:label nl Afwijkende vena cava morfologie CANDIDATE +en Abnormal vena cava physiology HP:0030970 rdfs:label nl Afwijkende vena cava fysiologie CANDIDATE +en Abnormal venous morphology HP:0002624 rdfs:label nl Abnormale veneuze morfologie CANDIDATE +en Abnormal ventricular axis HP:0033566 rdfs:label nl Abnormal ventricular axis NOT_TRANSLATED +en Abnormal ventricular filling HP:0006683 rdfs:label nl Afwijkende ventriculaire vulling CANDIDATE +en Abnormal ventricular myocardium morphology HP:0031316 rdfs:label nl Afwijkende ventriculaire myocard morfologie CANDIDATE +en Abnormal ventricular septum morphology HP:0010438 rdfs:label nl Afwijkende ventriculair septum morfologie CANDIDATE +en Abnormal ventriculoarterial connection HP:0011563 rdfs:label nl Afwijkende ventriculaire-arteriële verbinding CANDIDATE +en Abnormal verbal communicative behavior HP:4000072 rdfs:label nl Abnormal verbal communicative behavior NOT_TRANSLATED +en Abnormal vertebral artery morphology HP:0030321 rdfs:label nl Afwijkende arteria vertebralis morfologie CANDIDATE +en Abnormal vertebral morphology HP:0003468 rdfs:label nl Abnormale wervel morfologie CANDIDATE +en Abnormal vertebral pedicle morphology HP:0030277 rdfs:label nl Abnormale vertebrale pedikel morfologie CANDIDATE +en Abnormal vertebral segmentation and fusion HP:0005640 rdfs:label nl Afwijkende vertebrale segmentatie en fusie CANDIDATE +en Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region HP:0000244 IAO:0000115 nl Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region NOT_TRANSLATED +en Abnormal vertical rectus muscle physiology HP:0031748 rdfs:label nl Abnormal vertical rectus muscle physiology NOT_TRANSLATED +en Abnormal vestibular saccule morphology HP:0030999 rdfs:label nl Abnormale vestibulaire sacculus morfologie CANDIDATE +en Abnormal vestibulo-ocular reflex HP:0007670 rdfs:label nl Afwijkende vestibulo-oculaire reflex CANDIDATE +en Abnormal visual accommodation HP:0030800 rdfs:label nl Afwijkende visuele accommodatie CANDIDATE +en Abnormal visual electrophysiology HP:0030453 rdfs:label nl Afwijkende visuele electrofysiologie CANDIDATE +en Abnormal visual field test HP:0030588 rdfs:label nl Afwijkend gezichtsveldsonderzoek CANDIDATE +en Abnormal visual fixation HP:0025404 rdfs:label nl Abnormale visuele fixatie CANDIDATE +en Abnormal vitamin B12 level HP:0040126 rdfs:label nl Afwijkend vitamine B12 niveau CANDIDATE +en Abnormal vitreous humor morphology HP:0004327 rdfs:label nl Afwijkende glasvocht morfologie CANDIDATE +en Abnormal vocal cord morphology HP:0008777 rdfs:label nl Afwijking van de stembanden CANDIDATE +en Abnormal vomer morphology HP:0410000 rdfs:label nl Afwijking van vomer CANDIDATE +en Abnormal von Willebrand factor multimer distribution HP:0030131 rdfs:label nl Afwijkende von Willebrand factor multimeer verdeling CANDIDATE +en Abnormal waist to hip ratio HP:0031818 rdfs:label nl Abnormal waist to hip ratio NOT_TRANSLATED +en Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester HP:0025715 IAO:0000115 nl Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester NOT_TRANSLATED +en Abnormal widening of the metaphyseal regions of long bones HP:0003016 IAO:0000115 nl Abnormal widening of the metaphyseal regions of long bones NOT_TRANSLATED +en Abnormal zona pellucida morphology HP:0020156 rdfs:label nl Abnormal zona pellucida morphology NOT_TRANSLATED +en Abnormal zygomatic arch morphology HP:0005557 rdfs:label nl Afwijking van het os zygomaticum CANDIDATE +en Abnormal zygomatic bone morphology HP:0010668 rdfs:label nl Afwijking van het os zygomaticum CANDIDATE +en Abnormalities affecting the phalanx of finger HP:0005918 IAO:0000115 nl Abnormalities affecting the phalanx of finger NOT_TRANSLATED +en Abnormalities of placenta or umbilical cord HP:0001194 rdfs:label nl Afwijkingen van de placenta of de navelstreng CANDIDATE +en Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes) HP:0001832 IAO:0000115 nl Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes) NOT_TRANSLATED +en Abnormalities of the overall muscle bulk based on clinical observation HP:0030236 IAO:0000115 nl Abnormalities of the overall muscle bulk based on clinical observation NOT_TRANSLATED +en Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers HP:0030006 IAO:0000115 nl Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers NOT_TRANSLATED +en Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract HP:0012875 IAO:0000115 nl Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract NOT_TRANSLATED +en Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid HP:0012703 IAO:0000115 nl Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid NOT_TRANSLATED +en Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture which replace or supplement verbal communication HP:4000090 IAO:0000115 nl Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture which replace or supplement verbal communication NOT_TRANSLATED +en Abnormality iris morphology HP:0000525 rdfs:label nl Afwijking van de iris CANDIDATE +en Abnormality morphology of the macular vasculature HP:0030495 rdfs:label nl Afwijking van macula vasculatuur CANDIDATE +en Abnormality nasal septum cartilage morphology HP:3000034 rdfs:label nl Afwijking van het kraakbeen van het septum nasi CANDIDATE +en Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp HP:0002353 IAO:0000115 nl Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp NOT_TRANSLATED +en Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz HP:0030000 IAO:0000115 nl Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz NOT_TRANSLATED +en Abnormality of B cell physiology HP:0005372 rdfs:label nl Afwijking van B cel fysiologie CANDIDATE +en Abnormality of DNA repair HP:0003254 rdfs:label nl Afwijking van DNA repareermechanisme CANDIDATE +en Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium HP:0011490 IAO:0000115 nl Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium NOT_TRANSLATED +en Abnormality of Krebs cycle metabolism HP:0000816 rdfs:label nl Afwijking van citroenzuurcyclus metabolisme CANDIDATE +en Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements HP:0002494 IAO:0000115 nl Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements NOT_TRANSLATED +en Abnormality of T cell physiology HP:0011840 rdfs:label nl Afwijking van T cel fysiologie CANDIDATE +en Abnormality of abdominal situs HP:0011620 rdfs:label nl Afwijking van de abdominale situs CANDIDATE +en Abnormality of acid-base homeostasis HP:0004360 rdfs:label nl Afwijking van zuur-base homeostase CANDIDATE +en Abnormality of adrenal morphology HP:0011732 rdfs:label nl Afwijking van de bijnier morfologie CANDIDATE +en Abnormality of adrenal physiology HP:0011733 rdfs:label nl Afwijking van de bijnier fysiologie CANDIDATE +en Abnormality of alkaline phosphatase level HP:0004379 rdfs:label nl Verhoogde alkalisch fosfatase activiteit CANDIDATE +en Abnormality of amino acid metabolism HP:0004337 rdfs:label nl Afwijking van het aminozuur metabolisme CANDIDATE +en Abnormality of an amino acid metabolic process HP:0004337 IAO:0000115 nl Abnormality of an amino acid metabolic process NOT_TRANSLATED +en Abnormality of angular artery HP:3000023 rdfs:label nl Afwijking van arteria angularis CANDIDATE +en Abnormality of anterior ethmoidal artery HP:3000031 rdfs:label nl Afwijking van arteria ethmoidalis anterior CANDIDATE +en Abnormality of artery of lower lip HP:3000056 rdfs:label nl Afwijking van arterie van de onderlip CANDIDATE +en Abnormality of binocular vision HP:0011514 rdfs:label nl Afwijking van binoculair zien CANDIDATE +en Abnormality of bladder morphology HP:0025487 rdfs:label nl Afwijking van de morfologie van de blaas CANDIDATE +en Abnormality of blood and blood-forming tissues HP:0001871 rdfs:label nl Afwijking van bloed en bloed-vormende weefsels CANDIDATE +en Abnormality of blood circulation HP:0011028 rdfs:label nl Afwijking van bloed circulatie CANDIDATE +en Abnormality of blood volume homeostasis HP:0011104 rdfs:label nl Afwijking in bloedvolume homeostase CANDIDATE +en Abnormality of body height HP:0000002 rdfs:label nl Afwijking van de lichaamslengte CANDIDATE +en Abnormality of body mass index HP:0045081 rdfs:label nl Afwijking van de body mass index CANDIDATE +en Abnormality of body weight HP:0004323 rdfs:label nl Afwijking van het lichaamsgewicht CANDIDATE +en Abnormality of bone marrow cell morphology HP:0005561 rdfs:label nl Afwijking van de beenmerg cel morfologie CANDIDATE +en Abnormality of bone marrow stromal cells HP:0012129 rdfs:label nl Afwijking van de beenmerg stromale cellen CANDIDATE +en Abnormality of bone mineral density HP:0004348 rdfs:label nl Afwijking van de minerale botdichtheid CANDIDATE +en Abnormality of brain morphology HP:0012443 rdfs:label nl Afwijkende hersenen morfologie CANDIDATE +en Abnormality of buccinator muscle HP:3000027 rdfs:label nl Afwijking van musculus buccinator CANDIDATE +en Abnormality of canine HP:0011078 rdfs:label nl Afwijking van hoektand CANDIDATE +en Abnormality of cardiovascular system electrophysiology HP:0030956 rdfs:label nl Afwijking van electrofysiologie van cardiovasculair systeem CANDIDATE +en Abnormality of cardiovascular system morphology HP:0030680 rdfs:label nl Abnormality of cardiovascular system morphology NOT_TRANSLATED +en Abnormality of carpal bone ossification HP:0006257 rdfs:label nl Afwijking van carpale bot ossificatie CANDIDATE +en Abnormality of cartilage of external ear HP:3000022 rdfs:label nl Afwijking van het kraakbeen van het externe oor CANDIDATE +en Abnormality of central motor conduction HP:0012079 rdfs:label nl Afwijking van de centrale motorische geleiding CANDIDATE +en Abnormality of central nervous system electrophysiology HP:0030178 rdfs:label nl Afwijking van centrale zenuwstelsel electrofysiologie CANDIDATE +en Abnormality of central retinal artery HP:3000032 rdfs:label nl Afwijking van arteria centralis retinae CANDIDATE +en Abnormality of central somatosensory evoked potentials HP:0100291 rdfs:label nl Afwijking van centrale somatosensorische opgewekte potentialen CANDIDATE +en Abnormality of cerebrosidase metabolism HP:0004344 rdfs:label nl Afwijking van het cerebrosidase metabolisme CANDIDATE +en Abnormality of cervical plexus HP:3000035 rdfs:label nl Afwijking van cervicale plexus CANDIDATE +en Abnormality of chemokine secretion HP:0011115 rdfs:label nl Afwijking van chemokine secretie CANDIDATE +en Abnormality of chorioretinal pigmentation HP:0007661 rdfs:label nl Afwijkende chorioretinale pigmentatie CANDIDATE +en Abnormality of chromosome condensation HP:0011019 rdfs:label nl Afwijking van chromosoom condensatie CANDIDATE +en Abnormality of chromosome segregation HP:0002916 rdfs:label nl Afwijking van chromosoom segregatie CANDIDATE +en Abnormality of chromosome stability HP:0003220 rdfs:label nl Afwijking van chromosoom stabiliteit CANDIDATE +en Abnormality of ciliary ganglion HP:3000025 rdfs:label nl Afwijking van ciliair ganglion CANDIDATE +en Abnormality of circulating beta-2-microglobulin level HP:0025345 rdfs:label nl Afwijkend circulerend beta-2-microglobuline niveau CANDIDATE +en Abnormality of circulating catecholamine level HP:0012099 rdfs:label nl Afwijking van circulerend catecholamine niveau CANDIDATE +en Abnormality of circulating cortisol level HP:0011731 rdfs:label nl Afwijking van circulerend cortisol-niveau CANDIDATE +en Abnormality of circulating enzyme level HP:0011021 rdfs:label nl Afwijking van circulerend enzym niveau CANDIDATE +en Abnormality of circulating fibrinogen HP:0011898 rdfs:label nl Afwijking van circulerend fibrinogeen CANDIDATE +en Abnormality of circulating glucocorticoid level HP:0012111 rdfs:label nl Afwijking van circulerend glucocorticoïd-niveau CANDIDATE +en Abnormality of coagulation HP:0001928 rdfs:label nl Afwijking van de coagluatie CANDIDATE +en Abnormality of complement system HP:0005339 rdfs:label nl Afwijking van het complementsysteem CANDIDATE +en Abnormality of connective tissue HP:0003549 rdfs:label nl Afwijking van bindweefsel CANDIDATE +en Abnormality of coordination HP:0011443 rdfs:label nl Afwijking van coördinatie CANDIDATE +en Abnormality of corneal shape HP:0040004 rdfs:label nl Afwijking van corneale vorm CANDIDATE +en Abnormality of corneal size HP:0001120 rdfs:label nl Afwijking van corneale grootte CANDIDATE +en Abnormality of corneal thickness HP:0011486 rdfs:label nl Afwijking van de corneale dikte CANDIDATE +en Abnormality of cranial sutures HP:0011329 rdfs:label nl Afwijking van de craniale suturen CANDIDATE +en Abnormality of cytokine secretion HP:0011113 rdfs:label nl Afwijking van cytokine secretie CANDIDATE +en Abnormality of dental color HP:0011073 rdfs:label nl Afwijking van tandkleur CANDIDATE +en Abnormality of dental eruption HP:0006292 rdfs:label nl Afwijking van doorkomen van tanden CANDIDATE +en Abnormality of dental morphology HP:0006482 rdfs:label nl Afwijking van tandheelkundige morfologie CANDIDATE +en Abnormality of dental structure HP:0011061 rdfs:label nl Afwijking van tandheelkundige structuur CANDIDATE +en Abnormality of depressor anguli oris muscle HP:3000028 rdfs:label nl Afwijking van musculus depressor anguli oris CANDIDATE +en Abnormality of depressor labii inferioris HP:3000029 rdfs:label nl Afwijking van musculus depressor labii inferioris CANDIDATE +en Abnormality of dermal melanosomes HP:0011125 rdfs:label nl Afwijking van dermale melanosomen CANDIDATE +en Abnormality of digestive system morphology HP:0025033 rdfs:label nl Afwijking van de digestieve morfologie CANDIDATE +en Abnormality of digestive system physiology HP:0025032 rdfs:label nl Afwijking van digestieve systeem fysiologie CANDIDATE +en Abnormality of dorsal nasal artery HP:3000039 rdfs:label nl Afwijking van de arteria dorsalis nasi CANDIDATE +en Abnormality of dorsoventral patterning of the limbs HP:0100270 rdfs:label nl Afwijking van de dorsoventrale patroonvorming van de ledematen CANDIDATE +en Abnormality of ductus venosus blood flow HP:0010947 rdfs:label nl Afwijking van ductus venosus doorbloeding CANDIDATE +en Abnormality of endocrine pancreas physiology HP:0012093 rdfs:label nl Afwijking van de endocriene pancreas fysiologie CANDIDATE +en Abnormality of enteric ganglion morphology HP:0004362 rdfs:label nl Afwijking van enterisch ganglion morfologie CANDIDATE +en Abnormality of enteric nervous system morphology HP:0025028 rdfs:label nl Afwijking van enterische zenuwstelsel morfologie CANDIDATE +en Abnormality of enteric neuron morphology HP:0025029 rdfs:label nl Afwijking van enterisch neuron morfologie CANDIDATE +en Abnormality of ethmoid sinus HP:3000040 rdfs:label nl Afwijking van sinus ethmoidalis CANDIDATE +en Abnormality of exocrine pancreas physiology HP:0012092 rdfs:label nl Afwijking van de exocriene pancreas fysiologie CANDIDATE +en Abnormality of external carotid artery HP:3000041 rdfs:label nl Afwijking van arteria carotis externa CANDIDATE +en Abnormality of external jugular vein HP:0430024 rdfs:label nl Afwijking van vena jugularis externa CANDIDATE +en Abnormality of extrapyramidal motor function HP:0002071 rdfs:label nl Afwijking van de extrapyramidale motorische functie CANDIDATE +en Abnormality of extrinsic muscle of tongue HP:0040174 rdfs:label nl Afwijking van de extrinsieke tongspieren CANDIDATE +en Abnormality of eye movement HP:0000496 rdfs:label nl Afwijking van oogbeweging CANDIDATE +en Abnormality of eyesight (visual perception) HP:0000504 IAO:0000115 nl Abnormality of eyesight (visual perception) NOT_TRANSLATED +en Abnormality of facial adipose tissue HP:0000291 rdfs:label nl Afwijking van vetweefsel van het gelaat CANDIDATE +en Abnormality of facial musculature HP:0000301 rdfs:label nl Afwijking van aangezichtsmusculatuur CANDIDATE +en Abnormality of facial soft tissue HP:0011799 rdfs:label nl Afwijking van faciaal zacht weefsel CANDIDATE +en Abnormality of female external genitalia HP:0000055 rdfs:label nl Afwijking van vrouwelijke externe genitaliën CANDIDATE +en Abnormality of femoral epiphysis HP:0006499 rdfs:label nl Afwijking van femorale epifyse CANDIDATE +en Abnormality of femur morphology HP:0002823 rdfs:label nl Afwijking van femur morfologie CANDIDATE +en Abnormality of fibrinolysis HP:0040224 rdfs:label nl Afwijking van fibrinolyse CANDIDATE +en Abnormality of fibula morphology HP:0002991 rdfs:label nl Afwijking van fibula morfologie CANDIDATE +en Abnormality of fibular epiphyses HP:0010593 rdfs:label nl Afwijking van epifysen van de fibula CANDIDATE +en Abnormality of finger HP:0001167 rdfs:label nl Afwijking van vinger CANDIDATE +en Abnormality of fluid regulation HP:0011032 rdfs:label nl Afwijking van vloeistofregulatie CANDIDATE +en Abnormality of folate metabolism HP:0012335 rdfs:label nl Afwijking van folaat metabolisme CANDIDATE +en Abnormality of fontanelles HP:0011328 rdfs:label nl Afwijking van fontanellen CANDIDATE +en Abnormality of foot cortical bone HP:0025332 rdfs:label nl Afwijking van voet corticaal bot CANDIDATE +en Abnormality of foveal pigmentation HP:0030493 rdfs:label nl Afwijkende foveale pigmentatie CANDIDATE +en Abnormality of frontal process of maxilla HP:3000044 rdfs:label nl Afwijking van processus frontalis van maxilla CANDIDATE +en Abnormality of frontal sinus HP:0002687 rdfs:label nl Afwijking van de frontale sinus CANDIDATE +en Abnormality of frontalis muscle belly HP:3000004 rdfs:label nl Afwijking van musculus frontalis CANDIDATE +en Abnormality of fundus pigmentation HP:0031605 rdfs:label nl Afwijking van de fundus pigmentatie CANDIDATE +en Abnormality of galactoside metabolism HP:0004342 rdfs:label nl Afwijking van het galactoside metabolisme CANDIDATE +en Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose HP:0004342 IAO:0000115 nl Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose NOT_TRANSLATED +en Abnormality of genioglossus muscle HP:3000045 rdfs:label nl Afwijking van musculus genioglossus CANDIDATE +en Abnormality of globe location HP:0100886 rdfs:label nl Abnormale locatie van oogbol CANDIDATE +en Abnormality of globe size HP:0100887 rdfs:label nl Afwijking van de grootte van oogbol CANDIDATE +en Abnormality of glucose homeostasis HP:0011014 IAO:0000115 nl Abnormality of glucose homeostasis NOT_TRANSLATED +en Abnormality of glycolipid metabolism HP:0010969 rdfs:label nl Afwijking van glycolipide metabolisme CANDIDATE +en Abnormality of glycolysis HP:0004366 rdfs:label nl Afwijking van de glycolyse CANDIDATE +en Abnormality of glycosaminoglycan metabolism HP:0004371 IAO:0000115 nl Abnormality of glycosaminoglycan metabolism NOT_TRANSLATED +en Abnormality of glycosaminoglycan metabolism HP:0004371 rdfs:label nl Afwijking van het glycosaminoglycaan metabolisme CANDIDATE +en Abnormality of glycoside metabolism HP:0003649 IAO:0000115 nl Abnormality of glycoside metabolism NOT_TRANSLATED +en Abnormality of glycoside metabolism HP:0003649 rdfs:label nl Afwijking van glycoside metabolisme CANDIDATE +en Abnormality of hair growth HP:0040170 rdfs:label nl Afwijkening van haargroei CANDIDATE +en Abnormality of hair growth rate HP:0011363 rdfs:label nl Afwijkende snelheid van haargroei CANDIDATE +en Abnormality of hair pigmentation HP:0009887 rdfs:label nl Afwijking van haar pigmentatie CANDIDATE +en Abnormality of hair texture HP:0010719 rdfs:label nl Afwijking van haar textuur CANDIDATE +en Abnormality of hand joint mobility HP:0006256 rdfs:label nl Afwijking van het hand gewrichtsmobiliteit CANDIDATE +en Abnormality of head or neck HP:0000152 rdfs:label nl Afwijking van het hoofd of nek CANDIDATE +en Abnormality of hepatobiliary system physiology HP:0025155 rdfs:label nl Afwijking van hepatobiliaire systeem fysiologie CANDIDATE +en Abnormality of higher mental function HP:0011446 rdfs:label nl Afwijking van hogere mentale functie CANDIDATE +en Abnormality of humoral immunity HP:0005368 rdfs:label nl Afwijking van de humorale immuniteit CANDIDATE +en Abnormality of immune serum protein physiology HP:0011111 rdfs:label nl Afwijking van immuun serum eiwit fysiologie CANDIDATE +en Abnormality of immune system physiology HP:0010978 rdfs:label nl Afwijking van immuunsysteem fysiologie CANDIDATE +en Abnormality of inferior alveolar nerve HP:3000055 rdfs:label nl Afwijking van nervus alveolaris inferior CANDIDATE +en Abnormality of inferior crus of antihelix HP:0011243 rdfs:label nl Afwijkende inferieure crus anthelicis CANDIDATE +en Abnormality of inferior oblique extraocular muscle HP:3000057 rdfs:label nl Afwijking van musculus obliquus inferior bulbi CANDIDATE +en Abnormality of inferior rectus extraocular muscle HP:3000058 rdfs:label nl Afwijking van musculus rectus inferior bulbi CANDIDATE +en Abnormality of infra-orbital nerve HP:3000061 rdfs:label nl Afwijking van de infra-orbitale zenuw CANDIDATE +en Abnormality of interferon secretion HP:0011116 rdfs:label nl Afwijking van interferon secretie CANDIDATE +en Abnormality of interleukin secretion HP:0011117 rdfs:label nl Afwijking van interleukine secretie CANDIDATE +en Abnormality of internal jugular vein HP:3000063 rdfs:label nl Afwijking van vena jugularis interna CANDIDATE +en Abnormality of intestinal smooth muscle morphology HP:0030935 rdfs:label nl Abnormality of intestinal smooth muscle morphology NOT_TRANSLATED +en Abnormality of intracranial pressure HP:0012640 rdfs:label nl Afwijking van intracraniële druk CANDIDATE +en Abnormality of intrinsic muscle of tongue HP:3000064 rdfs:label nl Afwijking van de intrinsieke tongspieren CANDIDATE +en Abnormality of iron homeostasis HP:0011031 rdfs:label nl Afwijking van ijzer homeostase CANDIDATE +en Abnormality of jaw muscles HP:0045037 rdfs:label nl Afwijking van kaakspieren CANDIDATE +en Abnormality of joint mobility HP:0011729 rdfs:label nl Afwijking van het gewrichtsmobiliteit CANDIDATE +en Abnormality of lateral pterygoid muscle HP:3000068 rdfs:label nl Afwijking van de musculus pterygoideus lateralis CANDIDATE +en Abnormality of lateral rectus extra-ocular muscle HP:3000069 rdfs:label nl Afwijking van musculus rectus lateralis bulbi CANDIDATE +en Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent HP:0025169 IAO:0000115 nl Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent NOT_TRANSLATED +en Abnormality of lens shape HP:0011526 rdfs:label nl Afwijking van vorm van lens CANDIDATE +en Abnormality of levator anguli oris HP:3000070 rdfs:label nl Afwijking van musculus levator anguli oris CANDIDATE +en Abnormality of levator labii superioris HP:3000071 rdfs:label nl Afwijking van de musculus levator labii superioris CANDIDATE +en Abnormality of levator labii superioris alaeque nasi muscle HP:0430020 rdfs:label nl Afwijking van de musculus levator labii superioris alaeque nasi CANDIDATE +en Abnormality of levator veli palatini muscle HP:3000073 rdfs:label nl Afwijking van de musculus levator veli palatini CANDIDATE +en Abnormality of limb bone HP:0040068 rdfs:label nl Afwijking van bot van ledemaat CANDIDATE +en Abnormality of limb bone morphology HP:0002813 rdfs:label nl Afwijking van ledematen bot morfologie CANDIDATE +en Abnormality of limbs HP:0040064 rdfs:label nl Afwijking van ledematen CANDIDATE +en Abnormality of lingual tonsil HP:3000076 rdfs:label nl Afwijking van de tonsilla lingualis CANDIDATE +en Abnormality of lipoprotein cholesterol concentration HP:0010979 rdfs:label nl Afwijking van niveau van lipoproteïne cholesterol CANDIDATE +en Abnormality of liposaccharide metabolism HP:0010968 rdfs:label nl Afwijking van liposaccharide metabolisme CANDIDATE +en Abnormality of lower eyelashes HP:0040052 rdfs:label nl Afwijking van de onderste wimpers CANDIDATE +en Abnormality of lower limb epiphysis morphology HP:0006500 rdfs:label nl Afwijking van morfologie van de epifyse van onderste ledematen CANDIDATE +en Abnormality of lower limb joint HP:0100491 rdfs:label nl Afwijking van gewricht van onderste ledemaat CANDIDATE +en Abnormality of lysosomal metabolism HP:0004356 rdfs:label nl Afwijking van lysosomale metabolisme CANDIDATE +en Abnormality of macular or foveal pigmentation HP:0008002 IAO:0000115 nl Abnormality of macular or foveal pigmentation NOT_TRANSLATED +en Abnormality of macular pigmentation HP:0008002 rdfs:label nl Afwijking van macula pigmentatie CANDIDATE +en Abnormality of male external genitalia HP:0000032 rdfs:label nl Afwijking van mannelijke externe genitaliën CANDIDATE +en Abnormality of masseter muscle HP:3000005 rdfs:label nl Afwijking van musculus masseter CANDIDATE +en Abnormality of masticatory muscle HP:0410011 rdfs:label nl Afwijking van kauwspier CANDIDATE +en Abnormality of medial pterygoid muscle HP:3000006 rdfs:label nl Afwijking van de musculus pterygoideus medialis CANDIDATE +en Abnormality of medullary pyramid morphology HP:0025361 rdfs:label nl Afwijking van de medullaire piramide morfologie CANDIDATE +en Abnormality of mentalis muscle HP:3000007 rdfs:label nl Afwijking van musculus mentalis CANDIDATE +en Abnormality of mesenteric lymph nodes HP:0025042 rdfs:label nl Afwijking van de mesenterische lymfeknopen CANDIDATE +en Abnormality of mesentery morphology HP:0100016 rdfs:label nl Afwijking van mesenterium morfologie CANDIDATE +en Abnormality of metabolism/homeostasis HP:0001939 rdfs:label nl Afwijking van het metabolisme/homeostase CANDIDATE +en Abnormality of metatarsal epiphysis HP:0010630 rdfs:label nl Afwijking van metatarsale epifyse CANDIDATE +en Abnormality of mitochondrial metabolism HP:0003287 rdfs:label nl Afwijking van mitochondriale metabolisme CANDIDATE +en Abnormality of molar HP:0011077 rdfs:label nl Afwijking van molaar CANDIDATE +en Abnormality of mouth shape HP:0011338 rdfs:label nl Afwijking van vorm van de mond CANDIDATE +en Abnormality of mouth size HP:0011337 rdfs:label nl Afwijking van de grootte van de mond CANDIDATE +en Abnormality of movement HP:0100022 rdfs:label nl Afwijking van beweging CANDIDATE +en Abnormality of mucopolysaccharide metabolism HP:0011020 rdfs:label nl Afwijking van mucopolysaccharide metabolisme CANDIDATE +en Abnormality of multiple cell lineages in the bone marrow HP:0012145 rdfs:label nl Afwijking van multipele cellijnen in beenmerg CANDIDATE +en Abnormality of muscle of facial expression HP:0430019 rdfs:label nl Afwijking van spier van gelaatsuitdrukking CANDIDATE +en Abnormality of muscle size HP:0030236 rdfs:label nl Afwijking in spier grootte CANDIDATE +en Abnormality of musculature of soft palate HP:0430014 rdfs:label nl Afwijking van musculatuur van zachte gehemelte CANDIDATE +en Abnormality of mylohyoid muscle HP:3000008 rdfs:label nl Afwijking van musculus mylohyoideus CANDIDATE +en Abnormality of nail color HP:0100643 rdfs:label nl Afwijking van nagel kleur CANDIDATE +en Abnormality of nasal hair HP:0040057 rdfs:label nl Afwijking van nasale haar CANDIDATE +en Abnormality of nasal musculature HP:0430018 rdfs:label nl Afwijking van nasale musculatuur CANDIDATE +en Abnormality of nasalis muscle HP:3000009 rdfs:label nl Afwijking van musculus nasalis CANDIDATE +en Abnormality of neuronal migration HP:0002269 rdfs:label nl Afwijking van de neurale migratie CANDIDATE +en Abnormality of neutrophil morphology HP:0011992 rdfs:label nl Afwijking van de neutrofiel morfologie CANDIDATE +en Abnormality of neutrophil morphology in CSF HP:0410310 rdfs:label nl Abnormality of neutrophil morphology in CSF NOT_TRANSLATED +en Abnormality of neutrophil physiology HP:0011990 rdfs:label nl Afwijking van neutrofiel fysiologie CANDIDATE +en Abnormality of neutrophils HP:0001874 rdfs:label nl Afwijking van de neutrofielen CANDIDATE +en Abnormality of occipitofrontalis muscle HP:0040172 rdfs:label nl Afwijking van musculus occipitofrontalis CANDIDATE +en Abnormality of ocular abduction HP:0011347 rdfs:label nl Afwijking van oculaire abductie CANDIDATE +en Abnormality of ocular smooth pursuit HP:0000617 rdfs:label nl Afwijking van gladde oculaire vervolging CANDIDATE +en Abnormality of olfactory lobe morphology HP:0025057 rdfs:label nl Afwijking van bulbus olfactorius morfologie CANDIDATE +en Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) HP:0005920 IAO:0000115 nl Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) NOT_TRANSLATED +en Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal HP:0009599 IAO:0000115 nl Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal NOT_TRANSLATED +en Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger HP:0006263 IAO:0000115 nl Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger NOT_TRANSLATED +en Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger HP:0009320 IAO:0000115 nl Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger NOT_TRANSLATED +en Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger HP:0009174 IAO:0000115 nl Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger NOT_TRANSLATED +en Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger HP:0009152 IAO:0000115 nl Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger NOT_TRANSLATED +en Abnormality of ophthalmic artery HP:0410006 rdfs:label nl Afwijking van de arteria ophthalmica CANDIDATE +en Abnormality of optic chiasm morphology HP:0025163 rdfs:label nl Afwijking van chiasma opticum morfologie CANDIDATE +en Abnormality of orbicularis oris muscle HP:3000010 rdfs:label nl Afwijking van musculus orbicularis oris CANDIDATE +en Abnormality of pain sensation HP:0010832 rdfs:label nl Afwijking van pijnsensatie CANDIDATE +en Abnormality of palatoglossus muscle HP:3000011 rdfs:label nl Afwijking van musculus palatoglossus CANDIDATE +en Abnormality of palatopharyngeus muscle HP:3000012 rdfs:label nl Afwijking van musculus palatofaryngeus CANDIDATE +en Abnormality of pancreas physiology HP:0012091 rdfs:label nl Afwijking van de pancreas fysiologie CANDIDATE +en Abnormality of pattern onset/offset visual evoked potentials HP:0030456 rdfs:label nl Abnormality of pattern onset/offset visual evoked potentials NOT_TRANSLATED +en Abnormality of pattern reversal visual evoked potentials HP:0100289 rdfs:label nl Abnormality of pattern reversal visual evoked potentials NOT_TRANSLATED +en Abnormality of pattern visual evoked potentials HP:0030455 rdfs:label nl Abnormality of pattern visual evoked potentials NOT_TRANSLATED +en Abnormality of peripheral nerve conduction HP:0003134 rdfs:label nl Afwijking van de perifere zenuw voortgeleiding CANDIDATE +en Abnormality of peripheral nerves HP:0045010 rdfs:label nl Afwijking van perifere zenuwen CANDIDATE +en Abnormality of peripheral nervous system electrophysiology HP:0030177 rdfs:label nl Afwijking van perifere zenuwstelsel electrofysiologie CANDIDATE +en Abnormality of peripheral somatosensory evoked potentials HP:0100290 rdfs:label nl Afwijking van perifere somatosensorische opgewekte potentialen CANDIDATE +en Abnormality of permanent molar morphology HP:0011071 rdfs:label nl Afwijking van permanente molaire morfologie CANDIDATE +en Abnormality of pineal physiology HP:0012688 rdfs:label nl Afwijking van de epifyse fysiologie CANDIDATE +en Abnormality of premolar HP:0011076 rdfs:label nl Afwijking van premolaar CANDIDATE +en Abnormality of prenatal development or birth HP:0001197 rdfs:label nl Afwijking van prenatale ontwikkeling of geboorte CANDIDATE +en Abnormality of primary molar morphology HP:0006344 rdfs:label nl Afwijking van primaire molaire morfologie CANDIDATE +en Abnormality of primary teeth HP:0006481 rdfs:label nl Afwijking van primaire tanden CANDIDATE +en Abnormality of procerus muscle HP:3000014 rdfs:label nl Afwijking van musculus procerus CANDIDATE +en Abnormality of prothrombin HP:0012200 rdfs:label nl Afwijking van protrombine CANDIDATE +en Abnormality of pulmonary circulation HP:0030875 rdfs:label nl Abnormality of pulmonary circulation NOT_TRANSLATED +en Abnormality of radial diaphysis HP:0004027 rdfs:label nl Afwijking van diafyse van de radius CANDIDATE +en Abnormality of radial epiphyses HP:0003999 rdfs:label nl Afwijking van epifysen van de radius CANDIDATE +en Abnormality of redox activity HP:0025463 rdfs:label nl Afwijking van redox activiteit CANDIDATE +en Abnormality of refraction HP:0000539 rdfs:label nl Afwijking van refractie CANDIDATE +en Abnormality of renal excretion HP:0011036 rdfs:label nl Afwijking van de renale excretie CANDIDATE +en Abnormality of renin-angiotensin system HP:0000847 rdfs:label nl Afwijking van renine-angiotensine systeem CANDIDATE +en Abnormality of reproductive system physiology HP:0000080 rdfs:label nl Afwijking van reproductieve systeem fysiologie CANDIDATE +en Abnormality of retinal pigmentation HP:0007703 rdfs:label nl Afwijking van retinale pigmentatie CANDIDATE +en Abnormality of risorius muscle HP:3000015 rdfs:label nl Afwijking van musculus risorius CANDIDATE +en Abnormality of salivation HP:0100755 rdfs:label nl Afwijking van speekselafscheiding CANDIDATE +en Abnormality of secondary sexual hair HP:0009888 rdfs:label nl Afwijking van secundaire geslachtsbeharing CANDIDATE +en Abnormality of serum cytokine level HP:0011112 rdfs:label nl Afwijking in serum cytokine niveau CANDIDATE +en Abnormality of skeletal maturation HP:0000927 rdfs:label nl Afwijking van skeletale maturiteit CANDIDATE +en Abnormality of skeletal muscle fiber size HP:0012084 rdfs:label nl Afwijking van skeletspier vezel grootte CANDIDATE +en Abnormality of skin adnexa morphology HP:0011138 rdfs:label nl Afwijking van huidadnexen morfologie CANDIDATE +en Abnormality of skin adnexa physiology HP:0025276 rdfs:label nl Afwijking van huidadnexen fysiologie CANDIDATE +en Abnormality of skin morphology HP:0011121 rdfs:label nl Afwijking van huid morfologie CANDIDATE +en Abnormality of skin physiology HP:0011122 rdfs:label nl Afwijking van huid fysiologie CANDIDATE +en Abnormality of skin pigmentation HP:0001000 rdfs:label nl Afwijking van huidpigmentatie CANDIDATE +en Abnormality of skull ossification HP:0002703 rdfs:label nl Afwijking van de schedel ossificatie CANDIDATE +en Abnormality of skull size HP:0000240 rdfs:label nl Afwijking van de grootte van de schedel CANDIDATE +en Abnormality of small intestinal villus morphology HP:0011472 rdfs:label nl Afwijking van dunne darm villi morfologie CANDIDATE +en Abnormality of somatic nerve plexus HP:0410010 rdfs:label nl Afwijking van de somatische zenuw plexus CANDIDATE +en Abnormality of somatosensory evoked potentials HP:0007377 rdfs:label nl Afwijking van somatosensorische opgewekte potentialen CANDIDATE +en Abnormality of spinal facet joint HP:0030870 rdfs:label nl Abnormality of spinal facet joint NOT_TRANSLATED +en Abnormality of stem of antihelix HP:0011244 rdfs:label nl Afwijking van stam van antihelix CANDIDATE +en Abnormality of styloglossus muscle HP:3000016 rdfs:label nl Afwijking van musculus styloglossus CANDIDATE +en Abnormality of subcutaneous fat tissue HP:0001001 rdfs:label nl Afwijking van onderhuids vetweefsel CANDIDATE +en Abnormality of superior crus of antihelix HP:0011245 rdfs:label nl Afwijkende superieure crus anthelicis CANDIDATE +en Abnormality of superoxide metabolism HP:0004358 rdfs:label nl Afwijking van superoxide metabolisme CANDIDATE +en Abnormality of taste sensation HP:0000223 rdfs:label nl Afwijking van smaaksensatie CANDIDATE +en Abnormality of tear production HP:0000632 IAO:0000115 nl Abnormality of tear production NOT_TRANSLATED +en Abnormality of temperature regulation HP:0004370 rdfs:label nl Afwijking van temperatuurregeling CANDIDATE +en Abnormality of temporalis muscle HP:3000017 rdfs:label nl Afwijking van de musculus temporalis CANDIDATE +en Abnormality of tensor veli palatini muscle HP:0430016 rdfs:label nl Afwijking van musculus tensor veli palatini CANDIDATE +en Abnormality of thalamus morphology HP:0010663 rdfs:label nl Afwijking van de thalamus morfologie CANDIDATE +en Abnormality of the 2nd toe HP:0010319 rdfs:label nl Afwijking van de 2e teen CANDIDATE +en Abnormality of the 3rd toe HP:0010320 rdfs:label nl Afwijking van de 3e teen CANDIDATE +en Abnormality of the 4th toe HP:0010321 rdfs:label nl Afwijking van de 4e teen CANDIDATE +en Abnormality of the 5th toe HP:0010322 rdfs:label nl Afwijking van de 5e teen CANDIDATE +en Abnormality of the Achilles tendon HP:0005109 rdfs:label nl Afwijking van de achillespees CANDIDATE +en Abnormality of the Leydig cells HP:0010789 rdfs:label nl Afwijking van de Leydig cellen CANDIDATE +en Abnormality of the abdominal organs HP:0002012 rdfs:label nl Afwijking van de buikorganen CANDIDATE +en Abnormality of the abdominal wall HP:0004298 rdfs:label nl Afwijking van de buikwand CANDIDATE +en Abnormality of the absorption of fat from the gastrointestinal tract HP:0002630 IAO:0000115 nl Abnormality of the absorption of fat from the gastrointestinal tract NOT_TRANSLATED +en Abnormality of the acoustic reflex HP:0040121 rdfs:label nl Afwijking van de akoestische reflex CANDIDATE +en Abnormality of the adrenal glands HP:0000834 rdfs:label nl Afwijking van de bijnieren CANDIDATE +en Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys HP:0000834 IAO:0000115 nl Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys NOT_TRANSLATED +en Abnormality of the alternative complement pathway HP:0005482 rdfs:label nl Afwijking van de alternatieve complement pathway CANDIDATE +en Abnormality of the alveolar ridges HP:0006477 rdfs:label nl Afwijking van de alveolaire ruggen CANDIDATE +en Abnormality of the amniotic fluid HP:0001560 rdfs:label nl Afwijking van het vruchtwater CANDIDATE +en Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus HP:0001560 IAO:0000115 nl Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus NOT_TRANSLATED +en Abnormality of the anal canal HP:0004378 IAO:0000115 nl Abnormality of the anal canal NOT_TRANSLATED +en Abnormality of the ankles HP:0003028 rdfs:label nl Afwijking van de enkels CANDIDATE +en Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris HP:0000593 IAO:0000115 nl Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris NOT_TRANSLATED +en Abnormality of the anterior commissure HP:0030301 rdfs:label nl Afwijking van de voorste commissuur CANDIDATE +en Abnormality of the anterior fontanelle HP:0000236 rdfs:label nl Afwijking van de voorste fontanel CANDIDATE +en Abnormality of the anterior pituitary HP:0011747 rdfs:label nl Afwijking van de anterieure hypofyse CANDIDATE +en Abnormality of the anus HP:0004378 rdfs:label nl Afwijking van de anus CANDIDATE +en Abnormality of the auditory canal HP:0000372 rdfs:label nl Afwijking van de gehoorgang CANDIDATE +en Abnormality of the autonomic nervous system HP:0002270 rdfs:label nl Afwijking van het autonome zenuwstelsel CANDIDATE +en Abnormality of the axillary hair HP:0100134 rdfs:label nl Afwijking van het okselhaar CANDIDATE +en Abnormality of the back musculature HP:0410168 rdfs:label nl Abnormality of the back musculature NOT_TRANSLATED +en Abnormality of the basal ganglia HP:0002134 IAO:0000115 nl Abnormality of the basal ganglia NOT_TRANSLATED +en Abnormality of the bed nucleus of stria terminalis HP:0030798 rdfs:label nl Abnormality of the bed nucleus of stria terminalis NOT_TRANSLATED +en Abnormality of the biliary system HP:0004297 rdfs:label nl Afwijking van de gal systeem CANDIDATE +en Abnormality of the bladder HP:0000014 rdfs:label nl Afwijking van de blaas CANDIDATE +en Abnormality of the brachial nerve plexus HP:0045052 rdfs:label nl Afwijking van de plexus brachialis zenuwen CANDIDATE +en Abnormality of the breast HP:0000769 rdfs:label nl Afwijking van de borst CANDIDATE +en Abnormality of the calcaneus HP:0008364 rdfs:label nl Afwijking van de calcaneus CANDIDATE +en Abnormality of the calf HP:0002981 rdfs:label nl Afwijking van de kuit CANDIDATE +en Abnormality of the calf musculature HP:0001430 rdfs:label nl Afwijking van de kuitmusculatuur CANDIDATE +en Abnormality of the capitate bone HP:0004262 rdfs:label nl Afwijking van het os capitatum CANDIDATE +en Abnormality of the cardiovascular system HP:0001626 rdfs:label nl Afwijking van het cardiovasculair systeem CANDIDATE +en Abnormality of the cell cycle HP:0011018 rdfs:label nl Afwijking van de cel cyclus CANDIDATE +en Abnormality of the cervical spine HP:0003319 rdfs:label nl Afwijking van de cervicale wervelkolom CANDIDATE +en Abnormality of the chin HP:0000306 rdfs:label nl Afwijking van de kin CANDIDATE +en Abnormality of the choanae HP:0000415 rdfs:label nl Afwijking van de choanae CANDIDATE +en Abnormality of the choanae (the posterior nasal apertures) HP:0000415 IAO:0000115 nl Abnormality of the choanae (the posterior nasal apertures) NOT_TRANSLATED +en Abnormality of the clitoris HP:0000056 rdfs:label nl Afwijking van de clitoris CANDIDATE +en Abnormality of the clivus HP:0010558 rdfs:label nl Afwijking van de clivus CANDIDATE +en Abnormality of the coagulation cascade HP:0003256 rdfs:label nl Afwijking van de stollingscascade CANDIDATE +en Abnormality of the cochlear nerve HP:0011396 rdfs:label nl Afwijking van de nervus cochlearis CANDIDATE +en Abnormality of the common coagulation pathway HP:0010990 rdfs:label nl Afwijking van de gemeenschappelijke stollingsroute CANDIDATE +en Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea HP:0011488 IAO:0000115 nl Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea NOT_TRANSLATED +en Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea HP:0011495 IAO:0000115 nl Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea NOT_TRANSLATED +en Abnormality of the corpus callosum HP:0001273 IAO:0000115 nl Abnormality of the corpus callosum NOT_TRANSLATED +en Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord HP:0002492 IAO:0000115 nl Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord NOT_TRANSLATED +en Abnormality of the costochondral junction HP:0000919 rdfs:label nl Afwijking van de costochondrale verbinding CANDIDATE +en Abnormality of the crus of the helix HP:0009895 rdfs:label nl Afwijking van de crus helicis CANDIDATE +en Abnormality of the curvature of the cornea HP:0100691 rdfs:label nl Afwijking van de kromming van de cornea CANDIDATE +en Abnormality of the curvature of the vertebral column HP:0010674 rdfs:label nl Afwijking van de kromming van de wervelkolom CANDIDATE +en Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells HP:0011112 IAO:0000115 nl Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells NOT_TRANSLATED +en Abnormality of the dens of the axis, which is also known as the odontoid process HP:0003310 IAO:0000115 nl Abnormality of the dens of the axis, which is also known as the odontoid process NOT_TRANSLATED +en Abnormality of the dentition HP:0000164 rdfs:label nl Afwijking van de tanden CANDIDATE +en Abnormality of the diaphragm HP:0000775 rdfs:label nl Afwijking van het middenrif CANDIDATE +en Abnormality of the diencephalon HP:0010662 rdfs:label nl Afwijking van het diencephalon CANDIDATE +en Abnormality of the digestive system HP:0025031 rdfs:label nl Afwijking van het digestieve systeem CANDIDATE +en Abnormality of the distal femoral epiphysis HP:0010590 rdfs:label nl Afwijking van de distale epifyse van femur CANDIDATE +en Abnormality of the distal fibular epiphysis HP:0010595 rdfs:label nl Afwijking van de distale epifyse van de fibula CANDIDATE +en Abnormality of the distal humeral epiphysis HP:0010599 rdfs:label nl Afwijking van de distale epifyse van humerus CANDIDATE +en Abnormality of the distal phalanges of the toes HP:0010182 rdfs:label nl Afwijking van de distale falangen van de tenen CANDIDATE +en Abnormality of the distal phalanx of the 2nd finger HP:0009542 rdfs:label nl Afwijking van de distale falanx van de 2e vinger CANDIDATE +en Abnormality of the distal phalanx of the 2nd toe HP:0010356 rdfs:label nl Afwijking van de distale falanx van de 2e teen CANDIDATE +en Abnormality of the distal phalanx of the 3rd finger HP:0009357 rdfs:label nl Afwijking van de distale falanx van de 3e vinger CANDIDATE +en Abnormality of the distal phalanx of the 3rd toe HP:0010368 rdfs:label nl Afwijking van de distale falanx van de 3e teen CANDIDATE +en Abnormality of the distal phalanx of the 4th finger HP:0009282 rdfs:label nl Afwijking van de distale falanx van de 4e vinger CANDIDATE +en Abnormality of the distal phalanx of the 4th toe HP:0010380 rdfs:label nl Afwijking van de distale falanx van de 4e teen CANDIDATE +en Abnormality of the distal phalanx of the 5th (little) finger HP:0004225 IAO:0000115 nl Abnormality of the distal phalanx of the 5th (little) finger NOT_TRANSLATED +en Abnormality of the distal phalanx of the 5th finger HP:0004225 rdfs:label nl Afwijking van de distale falanx van de 5e vinger CANDIDATE +en Abnormality of the distal phalanx of the 5th toe HP:0010392 rdfs:label nl Afwijking van de distale falanx van de 5e teen CANDIDATE +en Abnormality of the distal phalanx of the hallux HP:0010053 rdfs:label nl Afwijking van de distale falanx van de hallux CANDIDATE +en Abnormality of the distal phalanx of the thumb HP:0009617 rdfs:label nl Afwijking van de distale falanx van de duim CANDIDATE +en Abnormality of the distal radial epiphysis HP:0010597 rdfs:label nl Afwijking van de distale epifyse van de radius CANDIDATE +en Abnormality of the distal tibial epiphysis HP:0010592 rdfs:label nl Afwijking van de distale epifyse van de tibia CANDIDATE +en Abnormality of the dorsal column of the spinal cord HP:0011397 rdfs:label nl Afwijking van de dorsale kolom van het ruggenmerg CANDIDATE +en Abnormality of the ductus choledochus HP:0100889 rdfs:label nl Afwijking van de ductus choledochus CANDIDATE +en Abnormality of the ear HP:0000598 rdfs:label nl Afwijking van het oor CANDIDATE +en Abnormality of the elbow HP:0009811 rdfs:label nl Afwijking van de elleboog CANDIDATE +en Abnormality of the eleventh cranial nerve HP:0010825 IAO:0000115 nl Afwijking van de elfde hersenzenuw CANDIDATE +en Abnormality of the eleventh cranial nerve HP:0010825 rdfs:label nl Afwijking van de elfde hersenzenuw CANDIDATE +en Abnormality of the endocrine system HP:0000818 rdfs:label nl Afwijking van het endocriene systeem CANDIDATE +en Abnormality of the epiphyses of the 2nd finger HP:0006263 rdfs:label nl Afwijking van de epifysen van de 2e vinger CANDIDATE +en Abnormality of the epiphyses of the 2nd toe HP:0010323 rdfs:label nl Afwijking van de epifysen van de 2e teen CANDIDATE +en Abnormality of the epiphyses of the 3rd finger HP:0009320 rdfs:label nl Afwijking van de epifysen van de 3e vinger CANDIDATE +en Abnormality of the epiphyses of the 3rd toe HP:0010329 rdfs:label nl Afwijking van de epifysen van de 3e teen CANDIDATE +en Abnormality of the epiphyses of the 4th finger HP:0009174 rdfs:label nl Afwijking van de epifysen van de 4e vinger CANDIDATE +en Abnormality of the epiphyses of the 4th toe HP:0010335 rdfs:label nl Afwijking van de epifysen van de 4e teen CANDIDATE +en Abnormality of the epiphyses of the 5th finger HP:0009152 rdfs:label nl Afwijking van de epifysen van de 5e vinger CANDIDATE +en Abnormality of the epiphyses of the 5th toe HP:0010341 rdfs:label nl Afwijking van de epifysen van de 5e teen CANDIDATE +en Abnormality of the epiphyses of the distal phalanx of finger HP:0010243 rdfs:label nl Afwijking van de epifysen van distale falanx van vinger CANDIDATE +en Abnormality of the epiphyses of the elbow HP:0003946 rdfs:label nl Afwijking van de epifysen van de elleboog CANDIDATE +en Abnormality of the epiphyses of the feet HP:0010631 rdfs:label nl Afwijking van de epifysen van de voeten CANDIDATE +en Abnormality of the epiphyses of the hallux HP:0010056 rdfs:label nl Afwijking van de epifysen van de hallux CANDIDATE +en Abnormality of the epiphyses of the middle phalanges of the hand HP:0010244 rdfs:label nl Afwijking van de epifysen van middelste falangen van hand CANDIDATE +en Abnormality of the epiphyses of the proximal phalanges of the hand HP:0010245 rdfs:label nl Afwijking van de epifysen van proximale falangen van hand CANDIDATE +en Abnormality of the epiphyses of the toes HP:0010160 rdfs:label nl Afwijking van de epifysen van de tenen CANDIDATE +en Abnormality of the epiphysis of the 1st metacarpal HP:0010014 rdfs:label nl Afwijking van de epifyse van de 1e metacarpaal CANDIDATE +en Abnormality of the epiphysis of the 1st metatarsal HP:0010125 rdfs:label nl Afwijking van de epifyse van de 1e metatarsaal CANDIDATE +en Abnormality of the epiphysis of the 2nd metacarpal HP:0010220 rdfs:label nl Afwijking van de epifyse van de 2e metacarpaal CANDIDATE +en Abnormality of the epiphysis of the 3rd metacarpal HP:0010222 rdfs:label nl Afwijking van de epifyse van de 3e metacarpaal CANDIDATE +en Abnormality of the epiphysis of the 4th metacarpal HP:0010224 rdfs:label nl Afwijking van de epifyse van de 4e metacarpaal CANDIDATE +en Abnormality of the epiphysis of the 5th metacarpal HP:0010226 rdfs:label nl Afwijking van de epifyse van de 5e metacarpaal CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 2nd finger HP:0009499 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 2e vinger CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 2nd toe HP:0100088 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 2e teen CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 3rd finger HP:0009332 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 3e vinger CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 3rd toe HP:0100091 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 3e teen CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 4th finger HP:0009249 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 4e vinger CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 4th toe HP:0100094 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 4e teen CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 5th finger HP:0009198 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 5e vinger CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the 5th toe HP:0100097 rdfs:label nl Afwijking van de epifyse van de distale falanx van de 5e teen CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx HP:0009198 IAO:0000115 nl Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED +en Abnormality of the epiphysis of the distal phalanx of the hallux HP:0010124 rdfs:label nl Afwijking van de epifyse van de distale falanx van de hallux CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the thumb HP:0009662 rdfs:label nl Afwijking van de epifyse van de distale falanx van de duim CANDIDATE +en Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx HP:0009662 IAO:0000115 nl Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED +en Abnormality of the epiphysis of the femoral head HP:0010574 rdfs:label nl Afwijking van de epifyse van de femurkop CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 2nd finger HP:0009500 rdfs:label nl Afwijking van de epiphyse van de middelste falanx van de 2e vinger CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 2nd toe HP:0100089 rdfs:label nl Afwijking van de epifyse van de middelste falanx van de 2e teen CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 3rd finger HP:0009334 rdfs:label nl Afwijking van de epiphyse van de middelste falanx van de 3e vinger CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 3rd toe HP:0100092 rdfs:label nl Afwijking van de epifyse van de middelste falanx van de 3e teen CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 4th finger HP:0009247 rdfs:label nl Afwijking van de epiphysis van de middelste falanx van de 4e vinger CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 4th toe HP:0100095 rdfs:label nl Afwijking van de epifyse van de middelste falanx van de 4e teen CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 5th finger HP:0004224 rdfs:label nl Afwijking van de epiphysis van de middelste falanx van de 5e vinger CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the 5th toe HP:0100098 rdfs:label nl Afwijking van de epifyse van de middelste falanx van de 5e teen CANDIDATE +en Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx HP:0004224 IAO:0000115 nl Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED +en Abnormality of the epiphysis of the proximal phalanx of the 2nd finger HP:0009501 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the 2nd toe HP:0100090 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 2e teen CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the 3rd finger HP:0009333 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the 3rd toe HP:0100093 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 3e teen CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the 4th finger HP:0009248 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the 4th toe HP:0100096 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 4e teen CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the 5th finger HP:0009153 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the 5th toe HP:0100099 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de 5e teen CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx HP:0009153 IAO:0000115 nl Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx NOT_TRANSLATED +en Abnormality of the epiphysis of the proximal phalanx of the hallux HP:0010126 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de hallux CANDIDATE +en Abnormality of the epiphysis of the proximal phalanx of the thumb HP:0009663 rdfs:label nl Afwijking van de epifyse van de proximale falanx van de duim CANDIDATE +en Abnormality of the extraocular muscles HP:0008049 rdfs:label nl Afwijking van extra-oculaire spieren CANDIDATE +en Abnormality of the extrinsic pathway HP:0010988 rdfs:label nl Afwijking in de extrinsieke pathway CANDIDATE +en Abnormality of the eye HP:0000478 rdfs:label nl Afwijking van het oog CANDIDATE +en Abnormality of the face HP:0000271 rdfs:label nl Afwijking van het gezicht CANDIDATE +en Abnormality of the falx cerebri HP:0010653 rdfs:label nl Afwijking van de falx cerebri CANDIDATE +en Abnormality of the fascia HP:0100536 rdfs:label nl Afwijking van de fascie CANDIDATE +en Abnormality of the female genital system HP:0010460 IAO:0000115 nl Abnormality of the female genital system NOT_TRANSLATED +en Abnormality of the female genitalia HP:0010460 rdfs:label nl Afwijking van de vrouwelijke geslachtsorganen CANDIDATE +en Abnormality of the fifth metatarsal bone HP:0008089 rdfs:label nl Afwijking van het vijfde metatarsale bot CANDIDATE +en Abnormality of the first branch of the internal carotid artery HP:0410006 IAO:0000115 nl Abnormality of the first branch of the internal carotid artery NOT_TRANSLATED +en Abnormality of the first metatarsal bone HP:0010054 rdfs:label nl Afwijking van het eerste metatarsale bot CANDIDATE +en Abnormality of the fontanelles or cranial sutures HP:0000235 rdfs:label nl Afwijking van de fontanellen of de craniale hechtingen CANDIDATE +en Abnormality of the foot musculature HP:0001436 rdfs:label nl Afwijking van de voetmusculatuur CANDIDATE +en Abnormality of the forehead HP:0000290 rdfs:label nl Afwijking van het voorhoofd CANDIDATE +en Abnormality of the fourth metatarsal bone HP:0040035 rdfs:label nl Afwijking van het vierde metatarsale bot CANDIDATE +en Abnormality of the frontal hairline HP:0000599 rdfs:label nl Afwijking van de frontale haarlijn CANDIDATE +en Abnormality of the gallbladder HP:0005264 rdfs:label nl Afwijking van de galblaas CANDIDATE +en Abnormality of the gastrointestinal tract HP:0011024 rdfs:label nl Afwijking van het gastro-instestinale stelsel CANDIDATE +en Abnormality of the genital system HP:0000078 rdfs:label nl Afwijking van het genitaal systeem CANDIDATE +en Abnormality of the genitourinary system HP:0000119 rdfs:label nl Afwijking van het urogenitaal systeem CANDIDATE +en Abnormality of the gingiva HP:0000168 rdfs:label nl Afwijking van het tandvlees CANDIDATE +en Abnormality of the glabella HP:0002056 rdfs:label nl Afwijking van de glabella CANDIDATE +en Abnormality of the glenoid fossa HP:0011912 rdfs:label nl Afwijking van de fossa glenoidalis CANDIDATE +en Abnormality of the gluteal musculature HP:0001443 rdfs:label nl Afwijking van de gluteale musculatuur CANDIDATE +en Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair HP:0009888 IAO:0000115 nl Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair NOT_TRANSLATED +en Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty HP:0100134 IAO:0000115 nl Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty NOT_TRANSLATED +en Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty HP:0100133 IAO:0000115 nl Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty NOT_TRANSLATED +en Abnormality of the hairline HP:0009553 rdfs:label nl Afwijking van de haarlijn CANDIDATE +en Abnormality of the hallux HP:0001844 rdfs:label nl Afwijking van de hallux CANDIDATE +en Abnormality of the hamate bone HP:0004259 rdfs:label nl Afwijking van het os hamatum CANDIDATE +en Abnormality of the hand HP:0001155 rdfs:label nl Afwijking van de hand CANDIDATE +en Abnormality of the head HP:0000234 rdfs:label nl Afwijking van het hoofd CANDIDATE +en Abnormality of the hepatic vasculature HP:0006707 rdfs:label nl Afwijking van de hepatische vasculatuur CANDIDATE +en Abnormality of the hip-girdle musculature HP:0001445 rdfs:label nl Afwijking van de bekkengordelmusculatuur CANDIDATE +en Abnormality of the homeostasis (concentration) of a monoatomic ion HP:0003111 IAO:0000115 nl Abnormality of the homeostasis (concentration) of a monoatomic ion NOT_TRANSLATED +en Abnormality of the humeral epiphyseal plate HP:0003905 rdfs:label nl Afwijking epifysaire plaat van de humerus CANDIDATE +en Abnormality of the humeral epiphysis HP:0003891 rdfs:label nl Afwijking van de epifyse van de humerus CANDIDATE +en Abnormality of the humeroradial joint HP:0100744 rdfs:label nl Afwijking van het humeroradial gewricht CANDIDATE +en Abnormality of the humeroulnar joint HP:0100745 rdfs:label nl Afwijking van het humeroulnar gewricht CANDIDATE +en Abnormality of the humerus HP:0003063 rdfs:label nl Afwijking van de humerus CANDIDATE +en Abnormality of the hypothalamus-pituitary axis HP:0000864 rdfs:label nl Afwijking van de hypothalamus-hypofyse-as CANDIDATE +en Abnormality of the hypothenar eminence HP:0010486 rdfs:label nl Afwijking van de pinkmuis CANDIDATE +en Abnormality of the immune system HP:0002715 rdfs:label nl Afwijking van het immuunsysteem CANDIDATE +en Abnormality of the incisor HP:0000676 rdfs:label nl Afwijking van de snijtand CANDIDATE +en Abnormality of the incus HP:0011453 rdfs:label nl Afwijking van de incus CANDIDATE +en Abnormality of the inner ear HP:0000359 rdfs:label nl Afwijking van het binnenoor CANDIDATE +en Abnormality of the integument HP:0001574 rdfs:label nl Afwijking van de huid CANDIDATE +en Abnormality of the internal auditory canal HP:0011384 rdfs:label nl Afwijking van de interne gehoorgang CANDIDATE +en Abnormality of the internal capsule HP:0012502 rdfs:label nl Afwijking van de capsula interna CANDIDATE +en Abnormality of the intrinsic pathway HP:0010989 rdfs:label nl Afwijking in de intrinsieke pathway CANDIDATE +en Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris HP:0000526 IAO:0000115 nl Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris NOT_TRANSLATED +en Abnormality of the ischium HP:0003174 rdfs:label nl Afwijking van het ischium CANDIDATE +en Abnormality of the joint spaces of the elbow HP:0003943 rdfs:label nl Afwijking van het gewrichtsspleten van de elleboog CANDIDATE +en Abnormality of the kidney HP:0000077 rdfs:label nl Afwijking van de nieren CANDIDATE +en Abnormality of the kinin-kallikrein system HP:0005559 rdfs:label nl Afwijking van het kallikrein-kinine-systeem CANDIDATE +en Abnormality of the knee HP:0002815 rdfs:label nl Afwijking van de knie CANDIDATE +en Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye HP:0011482 IAO:0000115 nl Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye NOT_TRANSLATED +en Abnormality of the larynx HP:0001600 rdfs:label nl Afwijking van het strottenhoofd CANDIDATE +en Abnormality of the liver HP:0001392 rdfs:label nl Afwijking van de lever CANDIDATE +en Abnormality of the lower limb HP:0002814 rdfs:label nl Afwijking van de onderste extremiteit CANDIDATE +en Abnormality of the lower urinary tract HP:0010936 rdfs:label nl Afwijking van de lagere urinewegen CANDIDATE +en Abnormality of the lumbosacral nerve plexus HP:0045053 rdfs:label nl Afwijking van de lumbosacrale zenuw plexus CANDIDATE +en Abnormality of the lunate bone HP:0004248 rdfs:label nl Afwijking van het os lunatum CANDIDATE +en Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis HP:0006530 IAO:0000115 nl Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis NOT_TRANSLATED +en Abnormality of the lymphatic system HP:0100763 rdfs:label nl Afwijking van het lymfestelsel CANDIDATE +en Abnormality of the male external sex organ HP:0000036 IAO:0000115 nl Abnormality of the male external sex organ NOT_TRANSLATED +en Abnormality of the male genital system HP:0010461 IAO:0000115 nl Abnormality of the male genital system NOT_TRANSLATED +en Abnormality of the male genitalia HP:0010461 rdfs:label nl Afwijking van de mannelijke genitaliën CANDIDATE +en Abnormality of the malleus HP:0011454 rdfs:label nl Afwijking van de malleus CANDIDATE +en Abnormality of the maxilla HP:0000326 rdfs:label nl Afwijking van de maxilla CANDIDATE +en Abnormality of the maxillary sinus HP:0430023 rdfs:label nl Afwijking van de maxillaire sinus CANDIDATE +en Abnormality of the medullary cavity of the long bones HP:0100253 rdfs:label nl Afwijking van de medulaire holte van de lange botten CANDIDATE +en Abnormality of the menstrual cycle HP:0000140 rdfs:label nl Afwijking van de menstruele cyclus CANDIDATE +en Abnormality of the metopic suture HP:0005556 rdfs:label nl Afwijking van de metopische sutuur CANDIDATE +en Abnormality of the middle ear HP:0000370 rdfs:label nl Afwijking van het middenoor CANDIDATE +en Abnormality of the middle ear ossicles HP:0004452 rdfs:label nl Afwijking van de middenoorbeentjes CANDIDATE +en Abnormality of the middle phalanges of the toes HP:0010183 rdfs:label nl Afwijking van de middelste falangen van de tenen CANDIDATE +en Abnormality of the middle phalanx of the 2nd finger HP:0009543 rdfs:label nl Afwijking van de middelste falanx van de 2e vinger CANDIDATE +en Abnormality of the middle phalanx of the 2nd toe HP:0010357 rdfs:label nl Afwijking van de middelste falanx van de 2e teen CANDIDATE +en Abnormality of the middle phalanx of the 3rd finger HP:0004172 rdfs:label nl Afwijking van de middelste falanx van de 3e vinger CANDIDATE +en Abnormality of the middle phalanx of the 3rd toe HP:0010369 rdfs:label nl Afwijking van de middelste falanx van de 3e teen CANDIDATE +en Abnormality of the middle phalanx of the 4th finger HP:0009283 rdfs:label nl Afwijking van de middelste falanx van de 4e vinger CANDIDATE +en Abnormality of the middle phalanx of the 4th toe HP:0010381 rdfs:label nl Afwijking van de middelste falanx van de 4e teen CANDIDATE +en Abnormality of the middle phalanx of the 5th finger HP:0004219 rdfs:label nl Afwijking van de middelste falanx van de 5e vinger CANDIDATE +en Abnormality of the middle phalanx of the 5th toe HP:0010393 rdfs:label nl Afwijking van de middelste falanx van de 5e teen CANDIDATE +en Abnormality of the midnasal cavity HP:0010641 rdfs:label nl Afwijking van de midnasale holte CANDIDATE +en Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae HP:0010641 IAO:0000115 nl Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae NOT_TRANSLATED +en Abnormality of the mitochondrion HP:0012103 rdfs:label nl Afwijking van het mitochondrion CANDIDATE +en Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles HP:0011571 IAO:0000115 nl Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles NOT_TRANSLATED +en Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain HP:0002683 IAO:0000115 nl Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain NOT_TRANSLATED +en Abnormality of the mouth HP:0000153 rdfs:label nl Afwijking van de mond CANDIDATE +en Abnormality of the musculature HP:0003011 rdfs:label nl Afwijking van de musculatuur CANDIDATE +en Abnormality of the musculature of the hand HP:0001421 rdfs:label nl Afwijking van de handmusculatuur CANDIDATE +en Abnormality of the musculature of the limbs HP:0009127 rdfs:label nl Afwijking van musculatuur van de extremiteiten CANDIDATE +en Abnormality of the musculature of the lower limbs HP:0001437 rdfs:label nl Afwijking van de musculatuur van de onderste ledematen CANDIDATE +en Abnormality of the musculature of the thigh HP:0001441 rdfs:label nl Afwijking van de bovenbeenmusculatuur CANDIDATE +en Abnormality of the musculature of the thorax HP:0009131 rdfs:label nl Afwijking van de musculatuur van de thorax CANDIDATE +en Abnormality of the musculature of the upper arm HP:0001457 rdfs:label nl Afwijking van de musculatuur van de bovenarm CANDIDATE +en Abnormality of the musculature of the upper limbs HP:0001446 rdfs:label nl Afwijking van de musculatuur van de bovenste ledematen CANDIDATE +en Abnormality of the musculoskeletal system HP:0033127 rdfs:label nl Abnormality of the musculoskeletal system NOT_TRANSLATED +en Abnormality of the nail HP:0001597 IAO:0000115 nl Abnormality of the nail NOT_TRANSLATED +en Abnormality of the nail HP:0001597 rdfs:label nl Afwijking van de nagel CANDIDATE +en Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi HP:0000422 IAO:0000115 nl Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi NOT_TRANSLATED +en Abnormality of the nasal cavity HP:0010640 rdfs:label nl Afwijking van de neusholte CANDIDATE +en Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures) HP:0010640 IAO:0000115 nl Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures) NOT_TRANSLATED +en Abnormality of the nasolabial region HP:0005289 rdfs:label nl Afwijking van de nasolabiale regio CANDIDATE +en Abnormality of the neck HP:0000464 rdfs:label nl Afwijking van de nek CANDIDATE +en Abnormality of the nervous system HP:0000707 rdfs:label nl Afwijking van het zenuwstelsel CANDIDATE +en Abnormality of the nose HP:0000366 rdfs:label nl Afwijking van de neus CANDIDATE +en Abnormality of the nostril HP:0005288 IAO:0000115 nl Abnormality of the nostril NOT_TRANSLATED +en Abnormality of the occipital bone of the skull HP:0012294 IAO:0000115 nl Abnormality of the occipital bone of the skull NOT_TRANSLATED +en Abnormality of the ocular adnexa HP:0032039 rdfs:label nl Abnormality of the ocular adnexa NOT_TRANSLATED +en Abnormality of the odontoid process HP:0003310 rdfs:label nl Afwijking van het processus odontoideus CANDIDATE +en Abnormality of the optic nerve HP:0000587 IAO:0000115 nl Abnormality of the optic nerve NOT_TRANSLATED +en Abnormality of the optic nerve HP:0000587 rdfs:label nl Afwijking van de oogzenuw CANDIDATE +en Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth HP:0000163 IAO:0000115 nl Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth NOT_TRANSLATED +en Abnormality of the oral mucosa HP:0011830 IAO:0000115 nl Abnormality of the oral mucosa NOT_TRANSLATED +en Abnormality of the orbital region HP:0000315 rdfs:label nl Afwijking van de orbitale regio CANDIDATE +en Abnormality of the os naviculare pedis HP:0100339 rdfs:label nl Afwijking van het os naviculare van de voet CANDIDATE +en Abnormality of the outer ear HP:0000356 rdfs:label nl Afwijking van het uitwendige oor CANDIDATE +en Abnormality of the ovary HP:0000137 rdfs:label nl Afwijking van de eierstok CANDIDATE +en Abnormality of the palmar creases HP:0010490 rdfs:label nl Afwijking van de handlijnen CANDIDATE +en Abnormality of the palpebral fissures HP:0008050 rdfs:label nl Afwijking van de ooglidspleten CANDIDATE +en Abnormality of the pancreas HP:0001732 rdfs:label nl Afwijking van de alvleesklier CANDIDATE +en Abnormality of the pancreatic islet cells HP:0006476 rdfs:label nl Afwijking van de eilandjes van Langerhans CANDIDATE +en Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses HP:0000245 IAO:0000115 nl Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses NOT_TRANSLATED +en Abnormality of the parathyroid gland HP:0000828 rdfs:label nl Afwijkingen van de bijschildklier CANDIDATE +en Abnormality of the parathyroid morphology HP:0011766 rdfs:label nl Afwijking van de bijschildklier morfologie CANDIDATE +en Abnormality of the parathyroid physiology HP:0011767 rdfs:label nl Afwijking van de bijschildklier fysiologie CANDIDATE +en Abnormality of the patella (knee cap) HP:0003045 IAO:0000115 nl Abnormality of the patella (knee cap) NOT_TRANSLATED +en Abnormality of the periorbital region HP:0000606 rdfs:label nl Afwijking van de periorbitale regio CANDIDATE +en Abnormality of the peripheral nervous system HP:0410008 rdfs:label nl Afwijking van het perifere zenuwstelsel CANDIDATE +en Abnormality of the peritoneum HP:0002585 rdfs:label nl Afwijking van het peritoneum CANDIDATE +en Abnormality of the periungual region HP:0100803 rdfs:label nl Afwijking van de periunguale regio CANDIDATE +en Abnormality of the phalanges of the 2nd (index) finger HP:0009541 IAO:0000115 nl Abnormality of the phalanges of the 2nd (index) finger NOT_TRANSLATED +en Abnormality of the phalanges of the 2nd finger HP:0009541 rdfs:label nl Afwijking van de falangen van de 2e vinger CANDIDATE +en Abnormality of the phalanges of the 3rd (middle) finger HP:0009316 IAO:0000115 nl Abnormality of the phalanges of the 3rd (middle) finger NOT_TRANSLATED +en Abnormality of the phalanges of the 3rd toe HP:0010330 rdfs:label nl Afwijking van de falangen van de 3e teen CANDIDATE +en Abnormality of the phalanges of the 4th (ring) finger HP:0009172 IAO:0000115 nl Abnormality of the phalanges of the 4th (ring) finger NOT_TRANSLATED +en Abnormality of the phalanges of the 4th toe HP:0010336 rdfs:label nl Afwijking van de falangen van de 4e teen CANDIDATE +en Abnormality of the phalanges of the 5th (little) finger HP:0004213 IAO:0000115 nl Abnormality of the phalanges of the 5th (little) finger NOT_TRANSLATED +en Abnormality of the phalanges of the 5th toe HP:0010342 rdfs:label nl Afwijking van de falangen van de 5e teen CANDIDATE +en Abnormality of the phalanges of the toes HP:0010161 rdfs:label nl Afwijking van de falangen van de tenen CANDIDATE +en Abnormality of the pharynx HP:0000600 rdfs:label nl Afwijking van de keelholte CANDIDATE +en Abnormality of the philtrum HP:0000288 rdfs:label nl Afwijking van het filtrum CANDIDATE +en Abnormality of the pineal gland HP:0012680 rdfs:label nl Afwijking van de epifyse CANDIDATE +en Abnormality of the pituitary gland HP:0012503 rdfs:label nl Afwijking van de hypofyse CANDIDATE +en Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit HP:0000864 IAO:0000115 nl Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit NOT_TRANSLATED +en Abnormality of the plantar skin of foot HP:0100872 rdfs:label nl Afwijking van plantaire huid van de voet CANDIDATE +en Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck HP:3000035 IAO:0000115 nl Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck NOT_TRANSLATED +en Abnormality of the posterior hairline HP:0030141 rdfs:label nl Afwijking van de posterieure haarlijn CANDIDATE +en Abnormality of the posterior pituitary HP:0011751 rdfs:label nl Afwijking van de posterieure hypofyse CANDIDATE +en Abnormality of the premaxilla HP:0010758 rdfs:label nl Afwijking van de premaxilla CANDIDATE +en Abnormality of the protein C anticoagulant pathway HP:0030780 rdfs:label nl Abnormality of the protein C anticoagulant pathway NOT_TRANSLATED +en Abnormality of the proximal fibular epiphysis HP:0010594 rdfs:label nl Afwijking van de proximale epifyse van de fibula CANDIDATE +en Abnormality of the proximal humeral epiphysis HP:0010598 rdfs:label nl Afwijking van de proximale epifyse van de humerus CANDIDATE +en Abnormality of the proximal phalanx of the 2nd finger HP:0009544 rdfs:label nl Afwijking van de proximale falanx van de 2e vinger CANDIDATE +en Abnormality of the proximal phalanx of the 3rd finger HP:0009358 rdfs:label nl Afwijking van de proximale falanx van de 3e vinger CANDIDATE +en Abnormality of the proximal phalanx of the 4th finger HP:0009284 rdfs:label nl Afwijking van de proximale falanx van de 4e vinger CANDIDATE +en Abnormality of the proximal phalanx of the 5th finger HP:0009150 rdfs:label nl Afwijking van de proximale falanx van de 5e vinger CANDIDATE +en Abnormality of the proximal phalanx of the little (5th) finger HP:0009150 IAO:0000115 nl Abnormality of the proximal phalanx of the little (5th) finger NOT_TRANSLATED +en Abnormality of the proximal phalanx of the thumb HP:0009618 rdfs:label nl Afwijking van de proximale falanx van de duim CANDIDATE +en Abnormality of the proximal radial epiphysis HP:0010596 rdfs:label nl Afwijking van de proximale epifyse van de radius CANDIDATE +en Abnormality of the proximal tibial epiphysis HP:0010591 rdfs:label nl Afwijking van de proximale epifyse van de tibia CANDIDATE +en Abnormality of the pubic bone HP:0003172 rdfs:label nl Afwijking van het os pubis CANDIDATE +en Abnormality of the pubic hair HP:0100133 rdfs:label nl Afwijking van het schaamhaar CANDIDATE +en Abnormality of the pulmonary artery HP:0004414 rdfs:label nl Afwijking van de arteria pulmonalis CANDIDATE +en Abnormality of the pulmonary vasculature HP:0004930 rdfs:label nl Afwijking van de pulmonale vasculatuur CANDIDATE +en Abnormality of the pulmonary veins HP:0011718 rdfs:label nl Afwijking van de pulmonale venen CANDIDATE +en Abnormality of the pylorus HP:0004400 rdfs:label nl Afwijking van de pylorus CANDIDATE +en Abnormality of the radial head HP:0003995 rdfs:label nl Afwijking van de caput radialis CANDIDATE +en Abnormality of the radioulnar joints HP:0003059 rdfs:label nl Afwijking van de radioulnaire gewrichten CANDIDATE +en Abnormality of the reflex of the tensor tympani muscle HP:0040120 rdfs:label nl Afwijkende reflex van de musculus tensor tympani CANDIDATE +en Abnormality of the respiratory system HP:0002086 rdfs:label nl Afwijking van het respiratoire systeem CANDIDATE +en Abnormality of the round window HP:0040099 rdfs:label nl Afwijking van het ronde venster CANDIDATE +en Abnormality of the scalp hair HP:0100037 rdfs:label nl Afwijking van het hoofdhaar CANDIDATE +en Abnormality of the scaphoid HP:0004243 rdfs:label nl Afwijking van het scaphoid CANDIDATE +en Abnormality of the scrotum HP:0000045 rdfs:label nl Afwijking van het scrotum CANDIDATE +en Abnormality of the second metatarsal bone HP:0040034 rdfs:label nl Afwijking van het tweede metatarsale bot CANDIDATE +en Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull HP:0002679 IAO:0000115 nl Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull NOT_TRANSLATED +en Abnormality of the sense of smell HP:0004408 rdfs:label nl Afwijking van de reukzin CANDIDATE +en Abnormality of the seventh cranial nerve HP:0010827 rdfs:label nl Afwijking van de zevende hersenzenuw CANDIDATE +en Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve HP:0010827 IAO:0000115 nl Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve NOT_TRANSLATED +en Abnormality of the shoulder girdle musculature HP:0001435 rdfs:label nl Afwijking van de schoudergordelmusculatuur CANDIDATE +en Abnormality of the skeletal system HP:0000924 rdfs:label nl Afwijking van het skeletsysteem CANDIDATE +en Abnormality of the skin HP:0000951 rdfs:label nl Afwijking van de huid CANDIDATE +en Abnormality of the skull base HP:0002693 rdfs:label nl Afwijking van de schedel basis CANDIDATE +en Abnormality of the small intestine HP:0002244 rdfs:label nl Afwijking van de dunne darm CANDIDATE +en Abnormality of the somatic nervous system HP:0410009 rdfs:label nl Afwijking van het somatische zenuwstelsel CANDIDATE +en Abnormality of the spatial relationship of the atria to other components of the heart HP:0011535 IAO:0000115 nl Abnormality of the spatial relationship of the atria to other components of the heart NOT_TRANSLATED +en Abnormality of the spatial relationship of the cardiac segments to other components of the heart HP:0011534 IAO:0000115 nl Abnormality of the spatial relationship of the cardiac segments to other components of the heart NOT_TRANSLATED +en Abnormality of the sphenoid sinus HP:0430022 rdfs:label nl Afwijking van de sinus sphenoidalis CANDIDATE +en Abnormality of the spinal cord HP:0002143 rdfs:label nl Afwijking van de ruggenmerg CANDIDATE +en Abnormality of the spinocerebellar tracts HP:0003133 rdfs:label nl Afwijking van de spinocerebellaire banen CANDIDATE +en Abnormality of the spleen HP:0001743 rdfs:label nl Afwijking van de milt CANDIDATE +en Abnormality of the stapes HP:0008628 rdfs:label nl Afwijking van de stapes CANDIDATE +en Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens HP:0010994 IAO:0000115 nl Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens NOT_TRANSLATED +en Abnormality of the structure and branching of the dendrites of a neuron HP:0500032 IAO:0000115 nl Abnormality of the structure and branching of the dendrites of a neuron NOT_TRANSLATED +en Abnormality of the sublingual glands HP:0010288 rdfs:label nl Afwijking van de sublinguale klieren CANDIDATE +en Abnormality of the submandibular glands HP:0010287 rdfs:label nl Afwijking van de submandibulaire klieren CANDIDATE +en Abnormality of the submandibular region HP:0410013 rdfs:label nl Afwijking van de submandibulaire regio CANDIDATE +en Abnormality of the subungual region HP:0009723 rdfs:label nl Afwijking van de subunguale regio CANDIDATE +en Abnormality of the supraorbital ridges HP:0100538 rdfs:label nl Afwijking van de supraorbitale plooien CANDIDATE +en Abnormality of the synovia HP:0005262 rdfs:label nl Afwijking van de synovia CANDIDATE +en Abnormality of the tarsal bones HP:0001850 rdfs:label nl Afwijking van de tarsale botten CANDIDATE +en Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple HP:0009911 IAO:0000115 nl Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple NOT_TRANSLATED +en Abnormality of the temporomandibular joint HP:0010754 rdfs:label nl Afwijking van het temporomandibulaire gewricht CANDIDATE +en Abnormality of the testis size HP:0045058 rdfs:label nl Afwijking van de grootte van testis CANDIDATE +en Abnormality of the thenar eminence HP:0001227 rdfs:label nl Afwijking van de duimmuis CANDIDATE +en Abnormality of the third metatarsal bone HP:0010672 rdfs:label nl Afwijking van het derde metatarsale bot CANDIDATE +en Abnormality of the thoracic cavity HP:0045027 rdfs:label nl Afwijking van de thoraxholte CANDIDATE +en Abnormality of the thymus HP:0000777 rdfs:label nl Afwijking van de thymus CANDIDATE +en Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation HP:0000777 IAO:0000115 nl Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation NOT_TRANSLATED +en Abnormality of the thyroid gland HP:0000820 rdfs:label nl Afwijking van de schildklier CANDIDATE +en Abnormality of the tibia (shinbone) HP:0002992 IAO:0000115 nl Abnormality of the tibia (shinbone) NOT_TRANSLATED +en Abnormality of the tibial plateaux HP:0003832 rdfs:label nl Afwijking van het plateau van de tibia CANDIDATE +en Abnormality of the tongue HP:0000157 rdfs:label nl Afwijking van de tong CANDIDATE +en Abnormality of the tongue muscle HP:0040173 rdfs:label nl Afwijking van de tong-spier CANDIDATE +en Abnormality of the tonsils HP:0100765 rdfs:label nl Afwijking van de tonsillen CANDIDATE +en Abnormality of the trapezium HP:0004252 rdfs:label nl Afwijking van het trapezium CANDIDATE +en Abnormality of the trapezoid bone HP:0004256 rdfs:label nl Afwijking van het os trapezium CANDIDATE +en Abnormality of the twelfth cranial nerve HP:0010826 IAO:0000115 nl Afwijking van de twaalfde hersenzenuw CANDIDATE +en Abnormality of the twelfth cranial nerve HP:0010826 rdfs:label nl Afwijking van de twaalfde hersenzenuw CANDIDATE +en Abnormality of the tympanic membrane HP:0040090 rdfs:label nl Afwijking van het trommelvlies CANDIDATE +en Abnormality of the umbilical cord HP:0010881 rdfs:label nl Afwijking van de navelstreng CANDIDATE +en Abnormality of the upper arm HP:0001454 rdfs:label nl Afwijking van de bovenarm CANDIDATE +en Abnormality of the upper limb HP:0002817 rdfs:label nl Afwijking van de bovenste extremiteit CANDIDATE +en Abnormality of the upper respiratory tract HP:0002087 rdfs:label nl Afwijking van de bovenste luchtwegen CANDIDATE +en Abnormality of the upper urinary tract HP:0010935 rdfs:label nl Afwijking van de hogere urinewegen CANDIDATE +en Abnormality of the urachus HP:0010478 IAO:0000115 nl Abnormality of the urachus NOT_TRANSLATED +en Abnormality of the urachus HP:0010478 rdfs:label nl Afwijking van de urachus CANDIDATE +en Abnormality of the ureter HP:0000069 rdfs:label nl Afwijking van de ureter CANDIDATE +en Abnormality of the urethra HP:0000795 rdfs:label nl Afwijking van de urinebuis CANDIDATE +en Abnormality of the urinary system HP:0000079 rdfs:label nl Afwijking van de urinewegen CANDIDATE +en Abnormality of the urinary system physiology HP:0011277 rdfs:label nl Afwijking van de urologische systeem fysiologie CANDIDATE +en Abnormality of the uterus HP:0000130 rdfs:label nl Afwijking van de uterus CANDIDATE +en Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate HP:0000172 IAO:0000115 nl Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate NOT_TRANSLATED +en Abnormality of the vasculature HP:0002597 rdfs:label nl Afwijking van het vaatstelsel CANDIDATE +en Abnormality of the vasculature of the eye HP:0008047 rdfs:label nl Afwijking van het vasculatuur van het oog CANDIDATE +en Abnormality of the vertebral column HP:0000925 rdfs:label nl Afwijking van de wervelkolom CANDIDATE +en Abnormality of the vertebral endplates HP:0005106 rdfs:label nl Afwijking van de vertebrale eindplaten CANDIDATE +en Abnormality of the vertebral spinous processes HP:0008516 rdfs:label nl Afwijking van de vertebrale processus spinosus CANDIDATE +en Abnormality of the vestibular nerve HP:0011392 rdfs:label nl Afwijking van de nervus vestibularis CANDIDATE +en Abnormality of the vestibular window HP:0040100 rdfs:label nl Afwijking van het vestibulair venster CANDIDATE +en Abnormality of the vestibulocochlear nerve HP:0009591 rdfs:label nl Afwijking van de nervus vestibulocochlearis CANDIDATE +en Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain HP:0009591 IAO:0000115 nl Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain NOT_TRANSLATED +en Abnormality of the vitamin B3 metabolism HP:0100496 rdfs:label nl Afwijking van vitamine B3 metabolisme CANDIDATE +en Abnormality of the voice HP:0001608 rdfs:label nl Afwijking van de stem CANDIDATE +en Abnormality of the wrist HP:0003019 rdfs:label nl Afwijking van de pols CANDIDATE +en Abnormality of the wrist, the structure connecting the hand and the forearm HP:0003019 IAO:0000115 nl Abnormality of the wrist, the structure connecting the hand and the forearm NOT_TRANSLATED +en Abnormality of the xiphoid process HP:0100892 rdfs:label nl Afwijking van het processus xiphoideus CANDIDATE +en Abnormality of thrombocytes HP:0001872 rdfs:label nl Abnormale morfologie van de trombocyten CANDIDATE +en Abnormality of thumb epiphysis HP:0009599 rdfs:label nl Afwijking van de epifyse van de duim CANDIDATE +en Abnormality of thumb phalanx HP:0009602 rdfs:label nl Afwijking van falanx van duim CANDIDATE +en Abnormality of thyroid physiology HP:0002926 rdfs:label nl Afwijking van schildklier fysiologie CANDIDATE +en Abnormality of tibia morphology HP:0002992 rdfs:label nl Afwijking van tibia morfologie CANDIDATE +en Abnormality of tibial epiphyses HP:0006508 rdfs:label nl Afwijking van epifysen van de tibia CANDIDATE +en Abnormality of toe HP:0001780 rdfs:label nl Afwijking van teen CANDIDATE +en Abnormality of toe proximal phalanx HP:0010184 rdfs:label nl Afwijking van het proximale falanx van teen CANDIDATE +en Abnormality of tumor necrosis factor secretion HP:0011118 rdfs:label nl Afwijking van tumor necrose factor secretie CANDIDATE +en Abnormality of umbilical vein blood flow HP:0010949 rdfs:label nl Afwijking van vena umbilicalis doorbloeding CANDIDATE +en Abnormality of upper eyelashes HP:0040051 rdfs:label nl Afwijking van de bovenste wimpers CANDIDATE +en Abnormality of upper limb epiphysis morphology HP:0003839 rdfs:label nl Afwijking van de epifyse van bovenste extremiteit morfologie CANDIDATE +en Abnormality of upper limb joint HP:0009810 rdfs:label nl Afwijking van gewricht van bovenste extremiteit CANDIDATE +en Abnormality of upper lip vermillion HP:0011339 rdfs:label nl Afwijking van bovenlip vermiljoen CANDIDATE +en Abnormality of urinary uric acid level HP:0012610 rdfs:label nl Afwijking urinezuur concentratie in urine CANDIDATE +en Abnormality of urine bicarbonate level HP:0011279 rdfs:label nl Afwijkende urine bicarbonaat concentratie CANDIDATE +en Abnormality of urine calcium concentration HP:0011280 rdfs:label nl Afwijkende urine calcium concentratie CANDIDATE +en Abnormality of urine catecholamine level HP:0011281 rdfs:label nl Afwijkende urine catecholamine concentratie CANDIDATE +en Abnormality of urine homeostasis HP:0003110 rdfs:label nl Afwijking van urine homeostase CANDIDATE +en Abnormality of uvular muscle HP:0430017 rdfs:label nl Afwijking van musculus uvulae CANDIDATE +en Abnormality of vascular function HP:0030163 IAO:0000115 nl Abnormality of vascular function NOT_TRANSLATED +en Abnormality of venous physiology HP:0030846 rdfs:label nl Afwijking van de veneuze fysiologie CANDIDATE +en Abnormality of vertebral epiphysis morphology HP:0100734 rdfs:label nl Afwijking van de vertebrale epifyse morfologie CANDIDATE +en Abnormality of vision HP:0000504 rdfs:label nl Afwijking van het zicht CANDIDATE +en Abnormality of visual evoked potentials HP:0000649 rdfs:label nl Afwijking van visuele opgewekte potentialen CANDIDATE +en Abnormality of vitamin A metabolism HP:0008372 rdfs:label nl Afwijking van vitamine A metabolisme CANDIDATE +en Abnormality of vitamin B metabolism HP:0004340 rdfs:label nl Afwijking van het metabolisme van vitamine B CANDIDATE +en Abnormality of vitamin B12 metabolism HP:0004341 rdfs:label nl Afwijking van het metabolisme van vitamine B12 CANDIDATE +en Abnormality of vitamin C metabolism HP:0100509 rdfs:label nl Afwijking van vitamine C metabolisme CANDIDATE +en Abnormality of vitamin D metabolism HP:0100511 rdfs:label nl Afwijking van vitamine D metabolisme CANDIDATE +en Abnormality of vitamin E metabolism HP:0100514 rdfs:label nl Afwijking van vitamine E metabolisme CANDIDATE +en Abnormality of vitamin K metabolism HP:0100831 rdfs:label nl Afwijking van vitamine K metabolisme CANDIDATE +en Abnormality of vitamin metabolism HP:0100508 rdfs:label nl Afwijking van vitamine metabolisme CANDIDATE +en Abnormality of von Willebrand factor HP:0012146 rdfs:label nl Afwijking van de von Willebrand-factor CANDIDATE +en Abnormality of zygomaticus major muscle HP:3000018 rdfs:label nl Afwijking van musculus zygomaticus major CANDIDATE +en Abnormality of zygomaticus minor muscle HP:3000020 rdfs:label nl Afwijking van musculus zygomaticus minor CANDIDATE +en Abnormality on pulmonary function testing HP:0030878 rdfs:label nl Afwijking tijdens functioneel longonderzoek CANDIDATE +en Abnormality originating in one or more muscles, i.e., of the set of muscles of body HP:0003011 IAO:0000115 nl Abnormality originating in one or more muscles, i.e., of the set of muscles of body NOT_TRANSLATED +en Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic) HP:0012150 IAO:0000115 nl Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic) NOT_TRANSLATED +en Abnormally anterior location of the papillary muscles of the left ventricle HP:0025448 IAO:0000115 nl Abnormally anterior location of the papillary muscles of the left ventricle NOT_TRANSLATED +en Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face HP:0012371 IAO:0000115 nl Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face NOT_TRANSLATED +en Abnormally big lacrimal glands HP:0007734 IAO:0000115 nl Abnormally big lacrimal glands NOT_TRANSLATED +en Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging HP:0031206 IAO:0000115 nl Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging NOT_TRANSLATED +en Abnormally broad metacarpal bones HP:0001230 IAO:0000115 nl Abnormally broad metacarpal bones NOT_TRANSLATED +en Abnormally curly or curved eyelashes HP:0007665 IAO:0000115 nl Abnormally curly or curved eyelashes NOT_TRANSLATED +en Abnormally decreased blood carbon dioxide (CO2) level in the cord blood HP:0410215 IAO:0000115 nl Abnormally decreased blood carbon dioxide (CO2) level in the cord blood NOT_TRANSLATED +en Abnormally decreased concentration of hydrogencarbonate in the urine HP:0045011 IAO:0000115 nl Abnormally decreased concentration of hydrogencarbonate in the urine NOT_TRANSLATED +en Abnormally decreased lacrimation, that is, reduced ability to produce tears HP:0000633 IAO:0000115 nl Abnormally decreased lacrimation, that is, reduced ability to produce tears NOT_TRANSLATED +en Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored HP:0040247 IAO:0000115 nl Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored NOT_TRANSLATED +en Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate HP:0031823 IAO:0000115 nl Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate NOT_TRANSLATED +en Abnormally decreased levels of alanine in cerebrospinal fluid HP:0500234 IAO:0000115 nl Abnormally decreased levels of alanine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of arginine in cerebrospinal fluid HP:0500204 IAO:0000115 nl Abnormally decreased levels of arginine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of glutamic acid in cerebrospinal fluid HP:0500201 IAO:0000115 nl Abnormally decreased levels of glutamic acid in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of glutamine in cerebrospinal fluid HP:0500198 IAO:0000115 nl Abnormally decreased levels of glutamine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of glycine in cerebrospinal fluid HP:0034390 IAO:0000115 nl Abnormally decreased levels of glycine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of histidine in cerebrospinal fluid HP:0500237 IAO:0000115 nl Abnormally decreased levels of histidine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of isoleucine in cerebrospinal fluid HP:0500194 IAO:0000115 nl Abnormally decreased levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of leucine in the cerebrospinal fluid HP:0500190 IAO:0000115 nl Abnormally decreased levels of leucine in the cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of lysine in cerebrospinal fluid HP:0500207 IAO:0000115 nl Abnormally decreased levels of lysine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of phenylalanine in cerebrospinal fluid HP:0500224 IAO:0000115 nl Abnormally decreased levels of phenylalanine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of serine in cerebrospinal fluid HP:0500228 IAO:0000115 nl Abnormally decreased levels of serine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of threonine in cerebrospinal fluid HP:0500213 IAO:0000115 nl Abnormally decreased levels of threonine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased levels of tyrosine in cerebrospinal fluid HP:0500221 IAO:0000115 nl Abnormally decreased levels of tyrosine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma HP:0008166 IAO:0000115 nl Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma NOT_TRANSLATED +en Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms HP:0000237 IAO:0000115 nl Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms NOT_TRANSLATED +en Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages HP:0045082 IAO:0000115 nl Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages NOT_TRANSLATED +en Abnormally developed (dysplastic) distal epiphysis of the radius HP:0005013 IAO:0000115 nl Abnormally developed (dysplastic) distal epiphysis of the radius NOT_TRANSLATED +en Abnormally diminished capacity to sweat HP:0000966 IAO:0000115 nl Abnormally diminished capacity to sweat NOT_TRANSLATED +en Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency HP:0002375 IAO:0000115 nl Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency NOT_TRANSLATED +en Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency HP:0033414 IAO:0000115 nl Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency NOT_TRANSLATED +en Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency HP:0033413 IAO:0000115 nl Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency NOT_TRANSLATED +en Abnormally dry skin in the area of the nipple of the breast HP:0031509 IAO:0000115 nl Abnormally dry skin in the area of the nipple of the breast NOT_TRANSLATED +en Abnormally elevated blood carbon dioxide (CO2) level HP:0012416 IAO:0000115 nl Abnormally elevated blood carbon dioxide (CO2) level NOT_TRANSLATED +en Abnormally elevated blood carbon dioxide (CO2) level in the cord blood HP:0410214 IAO:0000115 nl Abnormally elevated blood carbon dioxide (CO2) level in the cord blood NOT_TRANSLATED +en Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring HP:0004368 IAO:0000115 nl Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring NOT_TRANSLATED +en Abnormally elevated concentration of cortisol in saliva HP:0033015 IAO:0000115 nl Abnormally elevated concentration of cortisol in saliva NOT_TRANSLATED +en Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate HP:0003240 IAO:0000115 nl Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate NOT_TRANSLATED +en Abnormally elevated placental thickness HP:0032548 IAO:0000115 nl Abnormally elevated placental thickness NOT_TRANSLATED +en Abnormally firm adherence of the placenta to the uterine wall HP:0025654 IAO:0000115 nl Abnormally firm adherence of the placenta to the uterine wall NOT_TRANSLATED +en Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal HP:0005446 IAO:0000115 nl Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal NOT_TRANSLATED +en Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus HP:0000911 IAO:0000115 nl Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus NOT_TRANSLATED +en Abnormally flat shape of the heads of the metacarpal bones HP:0011909 IAO:0000115 nl Abnormally flat shape of the heads of the metacarpal bones NOT_TRANSLATED +en Abnormally flat shape of the heads of the metatarsal bones HP:0005194 IAO:0000115 nl Abnormally flat shape of the heads of the metatarsal bones NOT_TRANSLATED +en Abnormally folded helix HP:0008544 rdfs:label nl Afwijkend gevouwen helix CANDIDATE +en Abnormally high concentration of coproporphyrin 3 in feces HP:0033009 IAO:0000115 nl Abnormally high concentration of coproporphyrin 3 in feces NOT_TRANSLATED +en Abnormally high concentration of coproporphyrin 3 in feces HP:0033010 IAO:0000115 nl Abnormally high concentration of coproporphyrin 3 in feces NOT_TRANSLATED +en Abnormally high concentration of fecal porphyrins in feces HP:0032999 IAO:0000115 nl Abnormally high concentration of fecal porphyrins in feces NOT_TRANSLATED +en Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram HP:0032486 IAO:0000115 nl Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram NOT_TRANSLATED +en Abnormally high concentration of harderoporphyrin in feces HP:0034472 IAO:0000115 nl Abnormally high concentration of harderoporphyrin in feces NOT_TRANSLATED +en Abnormally high concentration of heptacarboxylporphyrin in feces HP:0034473 IAO:0000115 nl Abnormally high concentration of heptacarboxylporphyrin in feces NOT_TRANSLATED +en Abnormally high concentration of isocoproporphyrin in feces HP:0034475 IAO:0000115 nl Abnormally high concentration of isocoproporphyrin in feces NOT_TRANSLATED +en Abnormally high concentration of pentacarboxylporphyrin in feces HP:0034474 IAO:0000115 nl Abnormally high concentration of pentacarboxylporphyrin in feces NOT_TRANSLATED +en Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces HP:0034283 IAO:0000115 nl Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces NOT_TRANSLATED +en Abnormally high fecal pH, i.e., abnormal alkalinity of feces HP:0032489 IAO:0000115 nl Abnormally high fecal pH, i.e., abnormal alkalinity of feces NOT_TRANSLATED +en Abnormally high glucose concentration in the cerebrospinal fluid HP:0031885 IAO:0000115 nl Abnormally high glucose concentration in the cerebrospinal fluid NOT_TRANSLATED +en Abnormally high or low single motor unit action potential reading (-Pk Amps) HP:0033767 IAO:0000115 nl Abnormally high or low single motor unit action potential reading (-Pk Amps) NOT_TRANSLATED +en Abnormally high variation in the amount of time between periods HP:0000858 IAO:0000115 nl Abnormally high variation in the amount of time between periods NOT_TRANSLATED +en Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole) HP:0033755 IAO:0000115 nl Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole) NOT_TRANSLATED +en Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group HP:0033303 IAO:0000115 nl Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group NOT_TRANSLATED +en Abnormally increased body weight HP:0004324 IAO:0000115 nl Abnormally increased body weight NOT_TRANSLATED +en Abnormally increased caliber of the left subclavian artery HP:0031252 IAO:0000115 nl Abnormally increased caliber of the left subclavian artery NOT_TRANSLATED +en Abnormally increased concentration of L-alloisoleucine in the blood circulation HP:0033155 IAO:0000115 nl Abnormally increased concentration of L-alloisoleucine in the blood circulation NOT_TRANSLATED +en Abnormally increased concentration of O-stearoylcarnitine in the blood circulation HP:0033381 IAO:0000115 nl Abnormally increased concentration of O-stearoylcarnitine in the blood circulation NOT_TRANSLATED +en Abnormally increased concentration of cortisol in the urine HP:0012030 IAO:0000115 nl Abnormally increased concentration of cortisol in the urine NOT_TRANSLATED +en Abnormally increased concentration of hydrogencarbonate in the urine HP:0003646 IAO:0000115 nl Abnormally increased concentration of hydrogencarbonate in the urine NOT_TRANSLATED +en Abnormally increased concentration of palmitoylcarnitine in the blood circulation HP:0033382 IAO:0000115 nl Abnormally increased concentration of palmitoylcarnitine in the blood circulation NOT_TRANSLATED +en Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation HP:0034288 IAO:0000115 nl Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation NOT_TRANSLATED +en Abnormally increased concentration of tenascin-C in the blood circulation HP:0033115 IAO:0000115 nl Abnormally increased concentration of tenascin-C in the blood circulation NOT_TRANSLATED +en Abnormally increased count of neutrophils in urine HP:0020134 IAO:0000115 nl Abnormally increased count of neutrophils in urine NOT_TRANSLATED +en Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine HP:0003307 IAO:0000115 nl Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine NOT_TRANSLATED +en Abnormally increased density of craniofacial bone tissue HP:0005464 IAO:0000115 nl Abnormally increased density of craniofacial bone tissue NOT_TRANSLATED +en Abnormally increased density of metaphyseal bone HP:0004979 IAO:0000115 nl Abnormally increased density of metaphyseal bone NOT_TRANSLATED +en Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla HP:0430028 IAO:0000115 nl Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla NOT_TRANSLATED +en Abnormally increased excretion of porphyrins in the urine HP:0010473 IAO:0000115 nl Abnormally increased excretion of porphyrins in the urine NOT_TRANSLATED +en Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal HP:0011002 IAO:0000115 nl Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal NOT_TRANSLATED +en Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day HP:0002014 IAO:0000115 nl Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day NOT_TRANSLATED +en Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines HP:0030143 IAO:0000115 nl Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines NOT_TRANSLATED +en Abnormally increased hair growth in the lskin of the back HP:0034042 IAO:0000115 nl Abnormally increased hair growth in the lskin of the back NOT_TRANSLATED +en Abnormally increased hair growth in the lumbosacral region HP:0009747 IAO:0000115 nl Abnormally increased hair growth in the lumbosacral region NOT_TRANSLATED +en Abnormally increased hair growth over much of the entire body HP:0002230 IAO:0000115 nl Abnormally increased hair growth over much of the entire body NOT_TRANSLATED +en Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair) HP:0001007 IAO:0000115 nl Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair) NOT_TRANSLATED +en Abnormally increased hair growth with a localized distribution HP:0009889 IAO:0000115 nl Abnormally increased hair growth with a localized distribution NOT_TRANSLATED +en Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy HP:0032216 IAO:0000115 nl Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy NOT_TRANSLATED +en Abnormally increased lacrimation, that is, excessive tearing (watering eye) HP:0009926 IAO:0000115 nl Abnormally increased lacrimation, that is, excessive tearing (watering eye) NOT_TRANSLATED +en Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored HP:0040243 IAO:0000115 nl Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored NOT_TRANSLATED +en Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF) HP:0032532 IAO:0000115 nl Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Abnormally increased level of L-alloisoleucine in the urine HP:0033156 IAO:0000115 nl Abnormally increased level of L-alloisoleucine in the urine NOT_TRANSLATED +en Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35) HP:0002151 IAO:0000115 nl Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35) NOT_TRANSLATED +en Abnormally increased level of blood lactate following a meal HP:0011997 IAO:0000115 nl Abnormally increased level of blood lactate following a meal NOT_TRANSLATED +en Abnormally increased level of osteopontin in the blood circulation HP:0033123 IAO:0000115 nl Abnormally increased level of osteopontin in the blood circulation NOT_TRANSLATED +en Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate HP:0031822 IAO:0000115 nl Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate NOT_TRANSLATED +en Abnormally increased levels of alanine in cerebrospinal fluid HP:0500233 IAO:0000115 nl Abnormally increased levels of alanine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid HP:0500248 IAO:0000115 nl Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of arginine in cerebrospinal fluid HP:0500203 IAO:0000115 nl Abnormally increased levels of arginine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of aspartic acid in cerebrospinal fluid HP:0500217 IAO:0000115 nl Abnormally increased levels of aspartic acid in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of citrulline in cerebrospinal fluid HP:0500246 IAO:0000115 nl Abnormally increased levels of citrulline in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of ethanolamine in circulation HP:0500250 IAO:0000115 nl Abnormally increased levels of ethanolamine in circulation NOT_TRANSLATED +en Abnormally increased levels of glutamic acid in cerebrospinal fluid HP:0500200 IAO:0000115 nl Abnormally increased levels of glutamic acid in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of glutamine in cerebrospinal fluid HP:0500197 IAO:0000115 nl Abnormally increased levels of glutamine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of glycine in cerebrospinal fluid HP:0500230 IAO:0000115 nl Abnormally increased levels of glycine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of histidine in cerebrospinal fluid HP:0500236 IAO:0000115 nl Abnormally increased levels of histidine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of homocarnosine in cerebrospinal fluid HP:0500242 IAO:0000115 nl Abnormally increased levels of homocarnosine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of isoleucine in cerebrospinal fluid HP:0500193 IAO:0000115 nl Abnormally increased levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of leucine in cerebrospinal fluid HP:0500191 IAO:0000115 nl Abnormally increased levels of leucine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of lysine in cerebrospinal fluid HP:0500208 IAO:0000115 nl Abnormally increased levels of lysine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues HP:0012119 IAO:0000115 nl Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues NOT_TRANSLATED +en Abnormally increased levels of methionine in cerebrospinal fluid HP:0500210 IAO:0000115 nl Abnormally increased levels of methionine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of ornithine in cerebrospinal fluid HP:0500244 IAO:0000115 nl Abnormally increased levels of ornithine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of phenylalanine in cerebrospinal fluid HP:0500223 IAO:0000115 nl Abnormally increased levels of phenylalanine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of serine in cerebrospinal fluid HP:0500227 IAO:0000115 nl Abnormally increased levels of serine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of threonine in cerebrospinal fluid HP:0500212 IAO:0000115 nl Abnormally increased levels of threonine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of tryptophan in cerebrospinal fluid HP:0500222 IAO:0000115 nl Abnormally increased levels of tryptophan in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased levels of tyrosine in cerebrospinal fluid HP:0500220 IAO:0000115 nl Abnormally increased levels of tyrosine in cerebrospinal fluid NOT_TRANSLATED +en Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly HP:0003467 IAO:0000115 nl Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly NOT_TRANSLATED +en Abnormally increased production of urine by the fetus resulting in polyhydramnios HP:0001563 IAO:0000115 nl Abnormally increased production of urine by the fetus resulting in polyhydramnios NOT_TRANSLATED +en Abnormally increased production of urine during the night leading to an unusually frequent need to urinate HP:0000017 IAO:0000115 nl Abnormally increased production of urine during the night leading to an unusually frequent need to urinate NOT_TRANSLATED +en Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062 HP:0032276 IAO:0000115 nl Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062 NOT_TRANSLATED +en Abnormally increased serum levels of alkaline phosphatase activity HP:0003155 IAO:0000115 nl Abnormally increased serum levels of alkaline phosphatase activity NOT_TRANSLATED +en Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum HP:0000920 IAO:0000115 nl Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum NOT_TRANSLATED +en Abnormally increased size of the knee joint HP:0030866 IAO:0000115 nl Abnormally increased size of the knee joint NOT_TRANSLATED +en Abnormally increased size of the liver HP:0002240 IAO:0000115 nl Abnormally increased size of the liver NOT_TRANSLATED +en Abnormally increased thickness of the nasal septum HP:0009746 IAO:0000115 nl Abnormally increased thickness of the nasal septum NOT_TRANSLATED +en Abnormally increased variability in the size of erythrocytes HP:0011273 IAO:0000115 nl Abnormally increased variability in the size of erythrocytes NOT_TRANSLATED +en Abnormally increased variability in the size of platelets HP:0032438 IAO:0000115 nl Abnormally increased variability in the size of platelets NOT_TRANSLATED +en Abnormally increased variability of the size of the vertebral bodies HP:0002879 IAO:0000115 nl Abnormally increased variability of the size of the vertebral bodies NOT_TRANSLATED +en Abnormally increased volume of the first heart sound HP:0031660 IAO:0000115 nl Abnormally increased volume of the first heart sound NOT_TRANSLATED +en Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages HP:0031418 IAO:0000115 nl Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages NOT_TRANSLATED +en Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005) HP:0033008 IAO:0000115 nl Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005) NOT_TRANSLATED +en Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones HP:0003183 IAO:0000115 nl Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones NOT_TRANSLATED +en Abnormally large globe HP:0001090 rdfs:label nl Grote ogen CANDIDATE +en Abnormally large size of glomeruli HP:0030162 IAO:0000115 nl Abnormally large size of glomeruli NOT_TRANSLATED +en Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges) HP:0006134 IAO:0000115 nl Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges) NOT_TRANSLATED +en Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms HP:0010018 IAO:0000115 nl Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms HP:0009491 IAO:0000115 nl Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms HP:0009413 IAO:0000115 nl Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms HP:0009396 IAO:0000115 nl Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms HP:0009385 IAO:0000115 nl Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms HP:0010231 IAO:0000115 nl Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms HP:0009689 IAO:0000115 nl Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms HP:0009505 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms HP:0009338 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms HP:0009253 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms HP:0009147 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms HP:0009678 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms HP:0009324 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms HP:0009217 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms HP:0009206 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms HP:0009349 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms HP:0009264 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms HP:0009158 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009667 IAO:0000115 nl Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present HP:0032032 IAO:0000115 nl Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present NOT_TRANSLATED +en Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present HP:0032033 IAO:0000115 nl Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present NOT_TRANSLATED +en Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test HP:0031880 IAO:0000115 nl Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test NOT_TRANSLATED +en Abnormally lax lower eyelid associated with tissue relaxation HP:0032035 IAO:0000115 nl Abnormally lax lower eyelid associated with tissue relaxation NOT_TRANSLATED +en Abnormally lax or hyperextensible skin HP:0008067 rdfs:label nl Abnormaal slappe of hyperextensibele huid CANDIDATE +en Abnormally lax upper eyelid associated with tissue relaxation HP:0032034 IAO:0000115 nl Abnormally lax upper eyelid associated with tissue relaxation NOT_TRANSLATED +en Abnormally loud pulmonic component of the second heart sound HP:0031687 rdfs:label nl Abnormaal luide pulmonale component van de tweede harttoon CANDIDATE +en Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity) HP:0030877 IAO:0000115 nl Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity) NOT_TRANSLATED +en Abnormally low T cell receptor excision circle level HP:0031545 rdfs:label nl Abnormally low T cell receptor excision circle level NOT_TRANSLATED +en Abnormally low amount of sulfur in hair HP:0034425 IAO:0000115 nl Abnormally low amount of sulfur in hair NOT_TRANSLATED +en Abnormally low blood oxygen level without the presence of dyspnea HP:0034038 IAO:0000115 nl Abnormally low blood oxygen level without the presence of dyspnea NOT_TRANSLATED +en Abnormally low body weight HP:0004325 IAO:0000115 nl Abnormally low body weight NOT_TRANSLATED +en Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram HP:0032487 IAO:0000115 nl Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram NOT_TRANSLATED +en Abnormally low fecal pH, i.e., abnormal acidity of feces HP:0032490 IAO:0000115 nl Abnormally low fecal pH, i.e., abnormal acidity of feces NOT_TRANSLATED +en Abnormally low glucose concentration in the cerebrospinal fluid HP:0011972 IAO:0000115 nl Abnormally low glucose concentration in the cerebrospinal fluid NOT_TRANSLATED +en Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole) HP:0033756 IAO:0000115 nl Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole) NOT_TRANSLATED +en Abnormally low-pitched voice HP:0010300 rdfs:label nl Afwijkende lage stem CANDIDATE +en Abnormally narrow nasal septum HP:0009936 IAO:0000115 nl Abnormally narrow nasal septum NOT_TRANSLATED +en Abnormally ossified vertebrae HP:0100569 rdfs:label nl Abnormale vertebrale ossificatie CANDIDATE +en Abnormally pale skin HP:0000980 IAO:0000115 nl Abnormally pale skin NOT_TRANSLATED +en Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney HP:0100880 IAO:0000115 nl Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney NOT_TRANSLATED +en Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar) HP:0011796 IAO:0000115 nl Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar) NOT_TRANSLATED +en Abnormally prominent ear helix HP:0009904 IAO:0000115 nl Abnormally prominent ear helix NOT_TRANSLATED +en Abnormally prominent line of Schwalbe HP:0007873 rdfs:label nl Abnormaal prominente lijn van Schwalbe CANDIDATE +en Abnormally prominent umbilicus (belly button) HP:0001544 IAO:0000115 nl Abnormally prominent umbilicus (belly button) NOT_TRANSLATED +en Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity HP:0005435 IAO:0000115 nl Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity NOT_TRANSLATED +en Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids HP:0033168 IAO:0000115 nl Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids NOT_TRANSLATED +en Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides HP:0034367 IAO:0000115 nl Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides NOT_TRANSLATED +en Abnormally reduced amount of delta sarcoglycan in muscle HP:0030111 IAO:0000115 nl Abnormally reduced amount of delta sarcoglycan in muscle NOT_TRANSLATED +en Abnormally reduced blood carbon dioxide (CO2) level HP:0012417 IAO:0000115 nl Abnormally reduced blood carbon dioxide (CO2) level NOT_TRANSLATED +en Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity HP:0041095 IAO:0000115 nl Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity NOT_TRANSLATED +en Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring HP:0004369 IAO:0000115 nl Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring NOT_TRANSLATED +en Abnormally reduced concentration of cortisol in saliva HP:0033014 IAO:0000115 nl Abnormally reduced concentration of cortisol in saliva NOT_TRANSLATED +en Abnormally reduced concentration of cortisol in the blood HP:0008163 IAO:0000115 nl Abnormally reduced concentration of cortisol in the blood NOT_TRANSLATED +en Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood HP:0012343 IAO:0000115 nl Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood NOT_TRANSLATED +en Abnormally reduced diameter (cross section) of the clavicles HP:0006645 IAO:0000115 nl Abnormally reduced diameter (cross section) of the clavicles NOT_TRANSLATED +en Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region HP:0025681 IAO:0000115 nl Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region NOT_TRANSLATED +en Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate HP:0032460 IAO:0000115 nl Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate NOT_TRANSLATED +en Abnormally reduced levels of aldosterone HP:0004319 IAO:0000115 nl Abnormally reduced levels of aldosterone NOT_TRANSLATED +en Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent HP:0034312 IAO:0000115 nl Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent NOT_TRANSLATED +en Abnormally reduced serum levels of alkaline phosphatase HP:0003282 IAO:0000115 nl Abnormally reduced serum levels of alkaline phosphatase NOT_TRANSLATED +en Abnormally reduced sulfite oxidase level HP:0003643 IAO:0000115 nl Abnormally reduced sulfite oxidase level NOT_TRANSLATED +en Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration HP:0033169 IAO:0000115 nl Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration NOT_TRANSLATED +en Abnormally shaped carpal bones HP:0006014 rdfs:label nl Afwijkende vorm van de carpale botten CANDIDATE +en Abnormally short chordae tendineae of the mitral valve HP:0011580 IAO:0000115 nl Abnormally short chordae tendineae of the mitral valve NOT_TRANSLATED +en Abnormally short chordae tendineae of the tricuspid valve HP:0006692 IAO:0000115 nl Abnormally short chordae tendineae of the tricuspid valve NOT_TRANSLATED +en Abnormally short distal phalanx of toe of all toes HP:0005793 IAO:0000115 nl Abnormally short distal phalanx of toe of all toes NOT_TRANSLATED +en Abnormally short finger associated with developmental hypoplasia HP:0009381 IAO:0000115 nl Abnormally short finger associated with developmental hypoplasia NOT_TRANSLATED +en Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT HP:0032198 IAO:0000115 nl Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT NOT_TRANSLATED +en Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region HP:0000327 IAO:0000115 nl Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region NOT_TRANSLATED +en Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw) HP:0410219 IAO:0000115 nl Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw) NOT_TRANSLATED +en Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw) HP:0410218 IAO:0000115 nl Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw) NOT_TRANSLATED +en Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm HP:0000054 IAO:0000115 nl Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm NOT_TRANSLATED +en Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms HP:0009694 IAO:0000115 nl Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms HP:0009194 IAO:0000115 nl Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms HP:0009496 IAO:0000115 nl Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms HP:0009418 IAO:0000115 nl Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms HP:0009401 IAO:0000115 nl Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms HP:0009390 IAO:0000115 nl Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms HP:0010236 IAO:0000115 nl Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms HP:0009510 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms HP:0009343 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms HP:0009258 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms HP:0009148 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms HP:0009683 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms HP:0009329 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms HP:0009222 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms HP:0009211 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms HP:0009354 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms HP:0009269 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms HP:0009159 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms HP:0009672 IAO:0000115 nl Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms HP:0010023 IAO:0000115 nl Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms NOT_TRANSLATED +en Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task HP:0031908 IAO:0000115 nl Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task NOT_TRANSLATED +en Abnormally straight spine HP:0100795 rdfs:label nl Abnormaal rechte wervelkolom CANDIDATE +en Abnormally wide (broad) distal phalanx of finger HP:0009836 IAO:0000115 nl Abnormally wide (broad) distal phalanx of finger NOT_TRANSLATED +en Abnormally wide (broad) distal phalanx of finger of all fingers HP:0009880 IAO:0000115 nl Abnormally wide (broad) distal phalanx of finger of all fingers NOT_TRANSLATED +en Abnormally wide bone of the skeleton of forearm HP:0003971 IAO:0000115 nl Abnormally wide bone of the skeleton of forearm NOT_TRANSLATED +en Abnormally wide morphology of the proximal epiphysis of the femur HP:0008784 IAO:0000115 nl Abnormally wide morphology of the proximal epiphysis of the femur NOT_TRANSLATED +en Abolished vibration sense HP:0006944 rdfs:label nl Verdwenen tastzin CANDIDATE +en Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function HP:0033035 IAO:0000115 nl Abormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function NOT_TRANSLATED +en Aborted sudden cardiac death HP:0031628 rdfs:label nl Aborted sudden cardiac death NOT_TRANSLATED +en Abscess HP:0025615 rdfs:label nl Abscess NOT_TRANSLATED +en Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe HP:0010395 IAO:0000115 nl Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe NOT_TRANSLATED +en Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe HP:0100375 IAO:0000115 nl Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe NOT_TRANSLATED +en Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe HP:0100376 IAO:0000115 nl Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe NOT_TRANSLATED +en Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe HP:0100377 IAO:0000115 nl Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe NOT_TRANSLATED +en Absence (agenesis) or underdevelopment of the proximal phalanx of the toe HP:0010203 IAO:0000115 nl Absence (agenesis) or underdevelopment of the proximal phalanx of the toe NOT_TRANSLATED +en Absence (aplasia) of the sacrum HP:0010305 IAO:0000115 nl Absence (aplasia) of the sacrum NOT_TRANSLATED +en Absence (aplasia) of the spleen HP:0001746 IAO:0000115 nl Absence (aplasia) of the spleen NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of bones of the axial skeleton HP:0009122 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of bones of the axial skeleton NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of one or more components of the skeleton HP:0009115 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of one or more components of the skeleton NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of one or more forearm bones HP:0006503 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of one or more forearm bones NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of the bones of the hand HP:0005927 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of the bones of the hand NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of the bones of the lower limbs HP:0006493 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of the bones of the lower limbs NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of the bones of the upper limbs HP:0006496 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of the bones of the upper limbs NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of the extremities HP:0009815 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of the extremities NOT_TRANSLATED +en Absence (due to failure to form) or underdevelopment of the humerus HP:0006507 IAO:0000115 nl Absence (due to failure to form) or underdevelopment of the humerus NOT_TRANSLATED +en Absence of CD4-positive, CD25-positive regulatory T cells HP:0030336 rdfs:label nl Afwezige CD4-positieve, CD25-positieve regulerende T-cellen CANDIDATE +en Absence of CD8-positive T cells HP:0005422 rdfs:label nl Afwezigheid van CD8-positieve T-cellen CANDIDATE +en Absence of Lutheran antigen on erythrocytes HP:0010971 rdfs:label nl Afwezig Lutheran antigeen op erytrocyten CANDIDATE +en Absence of Stensen duct HP:0000198 rdfs:label nl Afwezigheid van ductus parotideus CANDIDATE +en Absence of a digit or of one or more phalanges of a finger HP:0005886 IAO:0000115 nl Absence of a digit or of one or more phalanges of a finger NOT_TRANSLATED +en Absence of a digit or of one or more phalanges of a toe HP:0010745 IAO:0000115 nl Absence of a digit or of one or more phalanges of a toe NOT_TRANSLATED +en Absence of a fingernail HP:0001817 IAO:0000115 nl Absence of a fingernail NOT_TRANSLATED +en Absence of a lobe of the thyroid gland related to a failure of its embryologic development HP:0011780 IAO:0000115 nl Absence of a lobe of the thyroid gland related to a failure of its embryologic development NOT_TRANSLATED +en Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe) HP:0400003 IAO:0000115 nl Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe) NOT_TRANSLATED +en Absence of a region of the retina, retinal pigment epithelium, and choroid HP:0000567 IAO:0000115 nl Absence of a region of the retina, retinal pigment epithelium, and choroid NOT_TRANSLATED +en Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus HP:0031613 IAO:0000115 nl Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus NOT_TRANSLATED +en Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum HP:0012741 IAO:0000115 nl Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum NOT_TRANSLATED +en Absence of acoustic reflex HP:0008529 rdfs:label nl Afwezigheid van akoestische reflex CANDIDATE +en Absence of alpha granules HP:0012526 rdfs:label nl Afwezigheid van alfa-granules CANDIDATE +en Absence of any measurable level of sperm in his semen HP:0000027 IAO:0000115 nl Ontbreken van een meetbare hoeveelheid spermacellen in zijn semen CANDIDATE +en Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels HP:0011963 IAO:0000115 nl Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels NOT_TRANSLATED +en Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy HP:0011961 IAO:0000115 nl Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy NOT_TRANSLATED +en Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy HP:0011962 IAO:0000115 nl Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy NOT_TRANSLATED +en Absence of axillary hair HP:0002221 IAO:0000115 nl Absence of axillary hair NOT_TRANSLATED +en Absence of bactericidal oxidative respiratory burst in phagocytes HP:0002723 rdfs:label nl Afwezigheid van bactericide oxidate respiratory burst in fagocyten CANDIDATE +en Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum HP:0008689 IAO:0000115 nl Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum NOT_TRANSLATED +en Absence of ceruloplasmin in the blood HP:0025498 IAO:0000115 nl Absence of ceruloplasmin in the blood NOT_TRANSLATED +en Absence of concavity or convexity of the face when viewed in profile HP:0012368 IAO:0000115 nl Absence of concavity or convexity of the face when viewed in profile NOT_TRANSLATED +en Absence of distal phalanx of the second toe as a result of developmental aplasia HP:0010432 IAO:0000115 nl Absence of distal phalanx of the second toe as a result of developmental aplasia NOT_TRANSLATED +en Absence of facial hair HP:0002550 IAO:0000115 nl Absence of facial hair NOT_TRANSLATED +en Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues HP:0000280 IAO:0000115 nl Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues NOT_TRANSLATED +en Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura HP:0000387 IAO:0000115 nl Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura NOT_TRANSLATED +en Absence of ganglioside GM3 HP:0410370 rdfs:label nl Absence of ganglioside GM3 NOT_TRANSLATED +en Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12 HP:0005219 IAO:0000115 nl Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12 NOT_TRANSLATED +en Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses HP:0002849 IAO:0000115 nl Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses NOT_TRANSLATED +en Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination HP:0011478 IAO:0000115 nl Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination NOT_TRANSLATED +en Absence of hair in the anterior midline and/or parietal areas HP:0002292 IAO:0000115 nl Absence of hair in the anterior midline and/or parietal areas NOT_TRANSLATED +en Absence of interest in peers HP:4000083 rdfs:label nl Absence of interest in peers NOT_TRANSLATED +en Absence of intermediate von Willebrand factor multimers HP:0030135 rdfs:label nl Ontbreken van intermediaire von-Willibrand-factor multimeren CANDIDATE +en Absence of intrinsic factor HP:0005219 rdfs:label nl Afwezigheid van intrinsic factor CANDIDATE +en Absence of labia majora HP:0008729 rdfs:label nl Afwezige labia majora CANDIDATE +en Absence of large von Willebrand Factor multimers on gel electrophoresis HP:0030132 IAO:0000115 nl Absence of large von Willebrand Factor multimers on gel electrophoresis NOT_TRANSLATED +en Absence of large von Willebrand factor multimers HP:0030132 rdfs:label nl Afwezigheid van grote von-Willebrand-factor multimeren CANDIDATE +en Absence of lymph node germinal center HP:0002849 rdfs:label nl Afwezigheid van lymfeklier kiemcentrum CANDIDATE +en Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs HP:0007443 IAO:0000115 nl Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs NOT_TRANSLATED +en Absence of memory B cells HP:0030251 rdfs:label nl Afwezigheid van B-geheugencellen CANDIDATE +en Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months HP:0000141 IAO:0000115 nl Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months NOT_TRANSLATED +en Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase HP:0003570 IAO:0000115 nl Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase NOT_TRANSLATED +en Absence of nail of little finger HP:0200104 IAO:0000115 nl Absence of nail of little finger NOT_TRANSLATED +en Absence of neurologic reflexes such as the knee-jerk reaction HP:0001284 IAO:0000115 nl Absence of neurologic reflexes such as the knee-jerk reaction NOT_TRANSLATED +en Absence of one half of the vertebral body HP:0002937 IAO:0000115 nl Absence of one half of the vertebral body NOT_TRANSLATED +en Absence of one half of the vertebral body in the cervical spine HP:0025481 IAO:0000115 nl Absence of one half of the vertebral body in the cervical spine NOT_TRANSLATED +en Absence of one half of the vertebral body in the lumbar spine HP:0008439 IAO:0000115 nl Absence of one half of the vertebral body in the lumbar spine NOT_TRANSLATED +en Absence of one half of the vertebral body in the thoracic spine HP:0008467 IAO:0000115 nl Absence of one half of the vertebral body in the thoracic spine NOT_TRANSLATED +en Absence of one or more epiphyses of the 4th finger HP:0009393 IAO:0000115 nl Absence of one or more epiphyses of the 4th finger NOT_TRANSLATED +en Absence of one or more epiphyses of the 5th finger HP:0009382 IAO:0000115 nl Absence of one or more epiphyses of the 5th finger NOT_TRANSLATED +en Absence of one or more epiphyses of the phalanges of the fingers HP:0010228 IAO:0000115 nl Absence of one or more epiphyses of the phalanges of the fingers NOT_TRANSLATED +en Absence of one or more epiphyses of the thumb HP:0009686 IAO:0000115 nl Absence of one or more epiphyses of the thumb NOT_TRANSLATED +en Absence of one or more forearm bones associated with congenital failure of development HP:0003953 IAO:0000115 nl Absence of one or more forearm bones associated with congenital failure of development NOT_TRANSLATED +en Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers) HP:0006109 IAO:0000115 nl Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers) NOT_TRANSLATED +en Absence of one or more middle phalanx of a finger HP:0010239 IAO:0000115 nl Absence of one or more middle phalanx of a finger NOT_TRANSLATED +en Absence of one or more of the phalanges of the hand HP:0009802 IAO:0000115 nl Absence of one or more of the phalanges of the hand NOT_TRANSLATED +en Absence of pectoralis minor muscle HP:0005255 rdfs:label nl Afwezigheid van pectoralis minor CANDIDATE +en Absence of proximal phalanx of third toe, owing to a congenital defect of development HP:0100384 IAO:0000115 nl Absence of proximal phalanx of third toe, owing to a congenital defect of development NOT_TRANSLATED +en Absence of pubertal development HP:0008197 rdfs:label nl Afwezigheid van puberale ontwikkeling CANDIDATE +en Absence of pubic hair HP:0002555 IAO:0000115 nl Absence of pubic hair NOT_TRANSLATED +en Absence of renal corticomedullary differentiation HP:0005564 rdfs:label nl Afwezigheid van renale corticomedullaire differentiatie CANDIDATE +en Absence of secondary sex characteristics HP:0008187 rdfs:label nl Afwezigheid van secundaire geslachtskenmerken CANDIDATE +en Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females) HP:0008633 IAO:0000115 nl Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females) NOT_TRANSLATED +en Absence of shoulder muscles HP:0500023 IAO:0000115 nl Absence of shoulder muscles NOT_TRANSLATED +en Absence of specific immunoglobulins directed against a specific antigen or microorganism HP:0005424 IAO:0000115 nl Absence of specific immunoglobulins directed against a specific antigen or microorganism NOT_TRANSLATED +en Absence of stomach bubble on fetal sonography HP:0010963 rdfs:label nl Afwezig maagbubbel op foetale echografie CANDIDATE +en Absence of subcutaneous fat HP:0007485 rdfs:label nl Afwezigheid van subcutaan vet CANDIDATE +en Absence of tear secretion HP:0000522 IAO:0000115 nl Absence of tear secretion NOT_TRANSLATED +en Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed HP:0003438 IAO:0000115 nl Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed NOT_TRANSLATED +en Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells HP:0010971 IAO:0000115 nl Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells NOT_TRANSLATED +en Absence of the abdominal musculature HP:0005199 IAO:0000115 nl Absence of the abdominal musculature NOT_TRANSLATED +en Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli HP:0008529 IAO:0000115 nl Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli NOT_TRANSLATED +en Absence of the anterior chamber of the eye owing to a developmental defect HP:0008037 IAO:0000115 nl Absence of the anterior chamber of the eye owing to a developmental defect NOT_TRANSLATED +en Absence of the anterior commissure HP:0030302 IAO:0000115 nl Absence of the anterior commissure NOT_TRANSLATED +en Absence of the anterior pituitary gland resulting from a developmental defect HP:0010626 IAO:0000115 nl Absence of the anterior pituitary gland resulting from a developmental defect NOT_TRANSLATED +en Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix HP:0011249 IAO:0000115 nl Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix NOT_TRANSLATED +en Absence of the biceps muscle HP:0009783 IAO:0000115 nl Absence of the biceps muscle NOT_TRANSLATED +en Absence of the clavicles as a developmental defect HP:0006660 IAO:0000115 nl Absence of the clavicles as a developmental defect NOT_TRANSLATED +en Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect HP:0011375 IAO:0000115 nl Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect NOT_TRANSLATED +en Absence of the combined rod-and-cone response on electroretinogram HP:0007688 IAO:0000115 nl Absence of the combined rod-and-cone response on electroretinogram NOT_TRANSLATED +en Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles HP:0034252 IAO:0000115 nl Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles NOT_TRANSLATED +en Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline HP:0001274 IAO:0000115 nl Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline NOT_TRANSLATED +en Absence of the crystalline lens of the eye as a result of a developmental defect HP:0007707 IAO:0000115 nl Absence of the crystalline lens of the eye as a result of a developmental defect NOT_TRANSLATED +en Absence of the distal interphalangeal flexion creases of the fingers HP:0001032 IAO:0000115 nl Absence of the distal interphalangeal flexion creases of the fingers NOT_TRANSLATED +en Absence of the distal interphalangeal flexion creases of the fourth finger HP:0005780 IAO:0000115 nl Absence of the distal interphalangeal flexion creases of the fourth finger NOT_TRANSLATED +en Absence of the distal phalanges of the toes HP:0010645 IAO:0000115 nl Absence of the distal phalanges of the toes NOT_TRANSLATED +en Absence of the distal phalanx of the little (5th) finger HP:0009246 IAO:0000115 nl Absence of the distal phalanx of the little (5th) finger NOT_TRANSLATED +en Absence of the distal phalanx of the middle (3rd) finger HP:0009429 IAO:0000115 nl Absence of the distal phalanx of the middle (3rd) finger NOT_TRANSLATED +en Absence of the distal phalanx of the ring (4th) finger HP:0009291 IAO:0000115 nl Absence of the distal phalanx of the ring (4th) finger NOT_TRANSLATED +en Absence of the distal/terminal phalanx of the thumb HP:0009649 IAO:0000115 nl Absence of the distal/terminal phalanx of the thumb NOT_TRANSLATED +en Absence of the epiglottis HP:0008753 IAO:0000115 nl Absence of the epiglottis NOT_TRANSLATED +en Absence of the epiphyses of the 2nd finger HP:0009488 IAO:0000115 nl Absence of the epiphyses of the 2nd finger NOT_TRANSLATED +en Absence of the epiphyses of the 3rd finger HP:0009410 IAO:0000115 nl Absence of the epiphyses of the 3rd finger NOT_TRANSLATED +en Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals HP:0009196 IAO:0000115 nl Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals NOT_TRANSLATED +en Absence of the epiphyses of the phalanges of the toes HP:0010162 IAO:0000115 nl Absence of the epiphyses of the phalanges of the toes NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger HP:0009502 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger HP:0009335 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger HP:0009250 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger HP:0003696 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb HP:0009675 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger HP:0009321 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger HP:0009214 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger HP:0009203 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger HP:0009346 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger HP:0009261 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger HP:0009160 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger NOT_TRANSLATED +en Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009664 IAO:0000115 nl Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Absence of the eyebrow HP:0002223 IAO:0000115 nl Absence of the eyebrow NOT_TRANSLATED +en Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum HP:0033646 IAO:0000115 nl Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum NOT_TRANSLATED +en Absence of the fibula HP:0002990 IAO:0000115 nl Absence of the fibula NOT_TRANSLATED +en Absence of the fifth long bone of the hand HP:0010046 IAO:0000115 nl Absence of the fifth long bone of the hand NOT_TRANSLATED +en Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes HP:0002971 IAO:0000115 nl Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes NOT_TRANSLATED +en Absence of the fingernail of the index (second) finger HP:0033975 IAO:0000115 nl Absence of the fingernail of the index (second) finger NOT_TRANSLATED +en Absence of the fourth long bone of the hand HP:0010043 IAO:0000115 nl Absence of the fourth long bone of the hand NOT_TRANSLATED +en Absence of the globe or eyeball HP:0000528 IAO:0000115 nl Absence of the globe or eyeball NOT_TRANSLATED +en Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy HP:0012257 IAO:0000115 nl Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED +en Absence of the inner ear due to a developmental defect HP:0011372 IAO:0000115 nl Absence of the inner ear due to a developmental defect NOT_TRANSLATED +en Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella HP:0006844 IAO:0000115 nl Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella NOT_TRANSLATED +en Absence of the liver owing to a failure of the liver to develop HP:0100839 IAO:0000115 nl Absence of the liver owing to a failure of the liver to develop NOT_TRANSLATED +en Absence of the mandible HP:0009939 IAO:0000115 nl Absence of the mandible NOT_TRANSLATED +en Absence of the middle ear ossicles, malleus, incus, and stapes HP:0009910 IAO:0000115 nl Absence of the middle ear ossicles, malleus, incus, and stapes NOT_TRANSLATED +en Absence of the middle phalanx of the index (2nd) finger HP:0009576 IAO:0000115 nl Absence of the middle phalanx of the index (2nd) finger NOT_TRANSLATED +en Absence of the middle phalanx of the little (5th) finger HP:0009162 IAO:0000115 nl Absence of the middle phalanx of the little (5th) finger NOT_TRANSLATED +en Absence of the middle phalanx of the middle (3rd) finger HP:0009438 IAO:0000115 nl Absence of the middle phalanx of the middle (3rd) finger NOT_TRANSLATED +en Absence of the middle phalanx of the ring (4th) finger HP:0009294 IAO:0000115 nl Absence of the middle phalanx of the ring (4th) finger NOT_TRANSLATED +en Absence of the musculature HP:0100854 IAO:0000115 nl Absence of the musculature NOT_TRANSLATED +en Absence of the musculature of the pelvis HP:0500024 IAO:0000115 nl Absence of the musculature of the pelvis NOT_TRANSLATED +en Absence of the nasal bone HP:0010941 IAO:0000115 nl Absence of the nasal bone NOT_TRANSLATED +en Absence of the nasopharyngeal adenoids as a developmental defect HP:0040259 IAO:0000115 nl Absence of the nasopharyngeal adenoids as a developmental defect NOT_TRANSLATED +en Absence of the neurohypophysis owing to a developmental defect HP:0011756 IAO:0000115 nl Absence of the neurohypophysis owing to a developmental defect NOT_TRANSLATED +en Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve HP:0031626 IAO:0000115 nl Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve NOT_TRANSLATED +en Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike HP:0011820 IAO:0000115 nl Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike NOT_TRANSLATED +en Absence of the normal opening of the coronary ostium from which the right main coronary artery originates HP:0031637 IAO:0000115 nl Absence of the normal opening of the coronary ostium from which the right main coronary artery originates NOT_TRANSLATED +en Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy HP:0012256 IAO:0000115 nl Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED +en Absence of the parotid gland HP:0009740 IAO:0000115 nl Absence of the parotid gland NOT_TRANSLATED +en Absence of the patella HP:0006443 IAO:0000115 nl Absence of the patella NOT_TRANSLATED +en Absence of the pectoralis major muscle HP:0009751 IAO:0000115 nl Absence of the pectoralis major muscle NOT_TRANSLATED +en Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla HP:0010757 IAO:0000115 nl Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla NOT_TRANSLATED +en Absence of the proximal interphalangeal flexion creases of the fingers HP:0006077 IAO:0000115 nl Absence of the proximal interphalangeal flexion creases of the fingers NOT_TRANSLATED +en Absence of the proximal phalanx of the 2nd finger HP:0009596 IAO:0000115 nl Absence of the proximal phalanx of the 2nd finger NOT_TRANSLATED +en Absence of the proximal phalanx of the 3rd finger HP:0009458 IAO:0000115 nl Absence of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en Absence of the proximal phalanx of the little (5th) finger HP:0009225 IAO:0000115 nl Absence of the proximal phalanx of the little (5th) finger NOT_TRANSLATED +en Absence of the proximal phalanx of the ring (4th) finger HP:0009298 IAO:0000115 nl Absence of the proximal phalanx of the ring (4th) finger NOT_TRANSLATED +en Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009637 IAO:0000115 nl Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Absence of the proximal radial epiphysis HP:0005093 IAO:0000115 nl Absence of the proximal radial epiphysis NOT_TRANSLATED +en Absence of the pulmonary valve HP:0005134 rdfs:label nl Afwezigheid van de pulmonale klep CANDIDATE +en Absence of the quadriceps muscle HP:0009788 IAO:0000115 nl Absence of the quadriceps muscle NOT_TRANSLATED +en Absence of the radial spokes of the axoneme of the respiratory cilium HP:0012267 IAO:0000115 nl Absence of the radial spokes of the axoneme of the respiratory cilium NOT_TRANSLATED +en Absence of the reflex of the tensor tympani muscle HP:0040114 rdfs:label nl Afwezige reflex van de musculus tensor tympani CANDIDATE +en Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium HP:0011666 IAO:0000115 nl Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium NOT_TRANSLATED +en Absence of the sacrum HP:0010305 rdfs:label nl Afwezigheid van het sacrum CANDIDATE +en Absence of the scapulae HP:0010317 IAO:0000115 nl Absence of the scapulae NOT_TRANSLATED +en Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts HP:0410400 IAO:0000115 nl Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts NOT_TRANSLATED +en Absence of the second long bone of the hand HP:0010037 IAO:0000115 nl Absence of the second long bone of the hand NOT_TRANSLATED +en Absence of the semicircular canal HP:0011381 IAO:0000115 nl Absence of the semicircular canal NOT_TRANSLATED +en Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm HP:0001331 IAO:0000115 nl Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm NOT_TRANSLATED +en Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe) HP:0030312 IAO:0000115 nl Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe) NOT_TRANSLATED +en Absence of the sweat glands HP:0011136 IAO:0000115 nl Absence of the sweat glands NOT_TRANSLATED +en Absence of the tarsal bones HP:0010509 IAO:0000115 nl Absence of the tarsal bones NOT_TRANSLATED +en Absence of the third cerebral ventricle HP:0010661 rdfs:label nl Afwezigheid van de derde cerebrale ventrikel CANDIDATE +en Absence of the third long bone of the hand HP:0010040 IAO:0000115 nl Absence of the third long bone of the hand NOT_TRANSLATED +en Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination HP:0005359 IAO:0000115 nl Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination NOT_TRANSLATED +en Absence of the tibia HP:0009556 IAO:0000115 nl Absence of the tibia NOT_TRANSLATED +en Absence of the tongue owing to a developmental abnormality HP:0012730 IAO:0000115 nl Absence of the tongue owing to a developmental abnormality NOT_TRANSLATED +en Absence of the triceps muscle HP:0009785 IAO:0000115 nl Absence of the triceps muscle NOT_TRANSLATED +en Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration HP:0012264 IAO:0000115 nl Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration NOT_TRANSLATED +en Absence of the usual parallel position of philtral ridges HP:0011827 IAO:0000115 nl Absence of the usual parallel position of philtral ridges NOT_TRANSLATED +en Absence of the vestibular nerve HP:0011393 IAO:0000115 nl Absence of the vestibular nerve NOT_TRANSLATED +en Absence of thumb nail HP:0012554 IAO:0000115 nl Absence of thumb nail NOT_TRANSLATED +en Absence of transferrin, a protein that transports iron, in the blood HP:0012239 IAO:0000115 nl Absence of transferrin, a protein that transports iron, in the blood NOT_TRANSLATED +en Absence of urine, clinically classified as below 50ml/day HP:0100519 IAO:0000115 nl Absence of urine, clinically classified as below 50ml/day NOT_TRANSLATED +en Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities) HP:0031358 IAO:0000115 nl Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities) NOT_TRANSLATED +en Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral HP:0000453 IAO:0000115 nl Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral NOT_TRANSLATED +en Absence or abnormal closure of the midnasal cavity HP:0010643 IAO:0000115 nl Absence or abnormal closure of the midnasal cavity NOT_TRANSLATED +en Absence or developmental hypoplasia of the eccrine sweat glands HP:0007592 IAO:0000115 nl Absence or developmental hypoplasia of the eccrine sweat glands NOT_TRANSLATED +en Absence or developmental hypoplasia of the sweat glands HP:0011135 IAO:0000115 nl Absence or developmental hypoplasia of the sweat glands NOT_TRANSLATED +en Absence or developmental hypoplasia of the uterus HP:0008684 IAO:0000115 nl Absence or developmental hypoplasia of the uterus NOT_TRANSLATED +en Absence or failure to form of the external auditory canal HP:0000413 IAO:0000115 nl Absence or failure to form of the external auditory canal NOT_TRANSLATED +en Absence or hypoplasia of toes HP:0001991 IAO:0000115 nl Absence or hypoplasia of toes NOT_TRANSLATED +en Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger HP:0009161 IAO:0000115 nl Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger NOT_TRANSLATED +en Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger HP:0009192 IAO:0000115 nl Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger NOT_TRANSLATED +en Absence or underdevelopment involving the musculature of the thigh HP:0009786 IAO:0000115 nl Absence or underdevelopment involving the musculature of the thigh NOT_TRANSLATED +en Absence or underdevelopment of a cranial sinus or sinuses HP:0009120 IAO:0000115 nl Absence or underdevelopment of a cranial sinus or sinuses NOT_TRANSLATED +en Absence or underdevelopment of frontal sinus HP:0009119 IAO:0000115 nl Absence or underdevelopment of frontal sinus NOT_TRANSLATED +en Absence or underdevelopment of the abdominal musculature HP:0010318 IAO:0000115 nl Absence or underdevelopment of the abdominal musculature NOT_TRANSLATED +en Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis HP:0010625 IAO:0000115 nl Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis NOT_TRANSLATED +en Absence or underdevelopment of the anterior segment of the eye HP:0008062 IAO:0000115 nl Absence or underdevelopment of the anterior segment of the eye NOT_TRANSLATED +en Absence or underdevelopment of the biceps muscle HP:0009782 IAO:0000115 nl Absence or underdevelopment of the biceps muscle NOT_TRANSLATED +en Absence or underdevelopment of the big toe HP:0008362 IAO:0000115 nl Absence or underdevelopment of the big toe NOT_TRANSLATED +en Absence or underdevelopment of the breasts HP:0010311 IAO:0000115 nl Absence or underdevelopment of the breasts NOT_TRANSLATED +en Absence or underdevelopment of the carpal bones HP:0006502 IAO:0000115 nl Absence or underdevelopment of the carpal bones NOT_TRANSLATED +en Absence or underdevelopment of the cerebral white matter HP:0012429 IAO:0000115 nl Absence or underdevelopment of the cerebral white matter NOT_TRANSLATED +en Absence or underdevelopment of the clavicles (collar bones) HP:0006710 IAO:0000115 nl Absence or underdevelopment of the clavicles (collar bones) NOT_TRANSLATED +en Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect HP:0011395 IAO:0000115 nl Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect NOT_TRANSLATED +en Absence or underdevelopment of the corpus callosum HP:0007370 IAO:0000115 nl Absence or underdevelopment of the corpus callosum NOT_TRANSLATED +en Absence or underdevelopment of the diaphragm HP:0010315 IAO:0000115 nl Absence or underdevelopment of the diaphragm NOT_TRANSLATED +en Absence or underdevelopment of the distal phalanges HP:0009835 IAO:0000115 nl Absence or underdevelopment of the distal phalanges NOT_TRANSLATED +en Absence or underdevelopment of the distal phalanges of the toes HP:0010185 IAO:0000115 nl Absence or underdevelopment of the distal phalanges of the toes NOT_TRANSLATED +en Absence or underdevelopment of the ear lobes HP:0009906 IAO:0000115 nl Absence or underdevelopment of the ear lobes NOT_TRANSLATED +en Absence or underdevelopment of the eyebrow HP:0100840 IAO:0000115 nl Absence or underdevelopment of the eyebrow NOT_TRANSLATED +en Absence or underdevelopment of the eyelid HP:0011226 IAO:0000115 nl Absence or underdevelopment of the eyelid NOT_TRANSLATED +en Absence or underdevelopment of the femur HP:0005613 IAO:0000115 nl Absence or underdevelopment of the femur NOT_TRANSLATED +en Absence or underdevelopment of the fibula HP:0006492 IAO:0000115 nl Absence or underdevelopment of the fibula NOT_TRANSLATED +en Absence or underdevelopment of the first metatarsal bone HP:0010067 IAO:0000115 nl Absence or underdevelopment of the first metatarsal bone NOT_TRANSLATED +en Absence or underdevelopment of the gallbladder HP:0011466 IAO:0000115 nl Absence or underdevelopment of the gallbladder NOT_TRANSLATED +en Absence or underdevelopment of the iris HP:0008053 IAO:0000115 nl Absence or underdevelopment of the iris NOT_TRANSLATED +en Absence or underdevelopment of the kidney HP:0008678 IAO:0000115 nl Absence or underdevelopment of the kidney NOT_TRANSLATED +en Absence or underdevelopment of the lacrimal gland HP:0008038 IAO:0000115 nl Absence or underdevelopment of the lacrimal gland NOT_TRANSLATED +en Absence or underdevelopment of the lens HP:0008063 IAO:0000115 nl Absence or underdevelopment of the lens NOT_TRANSLATED +en Absence or underdevelopment of the liver HP:0034181 IAO:0000115 nl Absence or underdevelopment of the liver NOT_TRANSLATED +en Absence or underdevelopment of the mandible HP:0009118 IAO:0000115 nl Absence or underdevelopment of the mandible NOT_TRANSLATED +en Absence or underdevelopment of the maxilla HP:0009117 IAO:0000115 nl Absence or underdevelopment of the maxilla NOT_TRANSLATED +en Absence or underdevelopment of the metatarsal bones HP:0001964 IAO:0000115 nl Absence or underdevelopment of the metatarsal bones NOT_TRANSLATED +en Absence or underdevelopment of the midbrain (mesencephalon) HP:0034258 IAO:0000115 nl Absence or underdevelopment of the midbrain (mesencephalon) NOT_TRANSLATED +en Absence or underdevelopment of the muscles of the shoulder HP:0001464 IAO:0000115 nl Absence or underdevelopment of the muscles of the shoulder NOT_TRANSLATED +en Absence or underdevelopment of the muscles of the upper arm HP:0001468 IAO:0000115 nl Absence or underdevelopment of the muscles of the upper arm NOT_TRANSLATED +en Absence or underdevelopment of the musculature HP:0001460 IAO:0000115 nl Absence or underdevelopment of the musculature NOT_TRANSLATED +en Absence or underdevelopment of the musculature of the upper limbs HP:0001467 IAO:0000115 nl Absence or underdevelopment of the musculature of the upper limbs NOT_TRANSLATED +en Absence or underdevelopment of the nasal bone HP:0010940 IAO:0000115 nl Absence or underdevelopment of the nasal bone NOT_TRANSLATED +en Absence or underdevelopment of the nasal septum HP:0009935 IAO:0000115 nl Absence or underdevelopment of the nasal septum NOT_TRANSLATED +en Absence or underdevelopment of the nasopharyngeal adenoids HP:0040256 IAO:0000115 nl Absence or underdevelopment of the nasopharyngeal adenoids NOT_TRANSLATED +en Absence or underdevelopment of the palmar creases HP:0010488 IAO:0000115 nl Absence or underdevelopment of the palmar creases NOT_TRANSLATED +en Absence or underdevelopment of the patella HP:0006498 IAO:0000115 nl Absence or underdevelopment of the patella NOT_TRANSLATED +en Absence or underdevelopment of the premaxilla HP:0010756 IAO:0000115 nl Absence or underdevelopment of the premaxilla NOT_TRANSLATED +en Absence or underdevelopment of the proximal epiphysis of the femur HP:0005003 IAO:0000115 nl Absence or underdevelopment of the proximal epiphysis of the femur NOT_TRANSLATED +en Absence or underdevelopment of the pubic bone HP:0009104 IAO:0000115 nl Absence or underdevelopment of the pubic bone NOT_TRANSLATED +en Absence or underdevelopment of the quadriceps muscle HP:0009787 IAO:0000115 nl Absence or underdevelopment of the quadriceps muscle NOT_TRANSLATED +en Absence or underdevelopment of the spleen HP:0010451 IAO:0000115 nl Absence or underdevelopment of the spleen NOT_TRANSLATED +en Absence or underdevelopment of the tarsal bones HP:0008363 IAO:0000115 nl Absence or underdevelopment of the tarsal bones NOT_TRANSLATED +en Absence or underdevelopment of the testes HP:0010468 IAO:0000115 nl Absence or underdevelopment of the testes NOT_TRANSLATED +en Absence or underdevelopment of the thymus HP:0010515 IAO:0000115 nl Absence or underdevelopment of the thymus NOT_TRANSLATED +en Absence or underdevelopment of the thyroid gland HP:0033079 IAO:0000115 nl Absence or underdevelopment of the thyroid gland NOT_TRANSLATED +en Absence or underdevelopment of the tibia HP:0005772 IAO:0000115 nl Absence or underdevelopment of the tibia NOT_TRANSLATED +en Absence or underdevelopment of the toenail HP:0010624 IAO:0000115 nl Absence or underdevelopment of the toenail NOT_TRANSLATED +en Absence or underdevelopment of the tongue HP:0010295 IAO:0000115 nl Absence or underdevelopment of the tongue NOT_TRANSLATED +en Absence or underdevelopment of the triceps muscle HP:0009784 IAO:0000115 nl Absence or underdevelopment of the triceps muscle NOT_TRANSLATED +en Absence or underdevelopment of the ulna HP:0006495 IAO:0000115 nl Absence or underdevelopment of the ulna NOT_TRANSLATED +en Absence or underdevelopment of the urinary bladder HP:0010476 IAO:0000115 nl Absence or underdevelopment of the urinary bladder NOT_TRANSLATED +en Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid HP:0008055 IAO:0000115 nl Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid NOT_TRANSLATED +en Absence or underdevelopment of the vermis of cerebellum HP:0006817 IAO:0000115 nl Absence or underdevelopment of the vermis of cerebellum NOT_TRANSLATED +en Absence or underdevelopment of tissue in the central nervous system HP:0002977 IAO:0000115 nl Absence or underdevelopment of tissue in the central nervous system NOT_TRANSLATED +en Absence seizure with eyelid myoclonia HP:0011149 rdfs:label nl Absence met ooglid myoclonie CANDIDATE +en Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern HP:0033525 IAO:0000115 nl Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern NOT_TRANSLATED +en Absent 2nd (index) finger HP:0009535 IAO:0000115 nl Absent 2nd (index) finger NOT_TRANSLATED +en Absent 3rd finger HP:0009460 IAO:0000115 nl Absent 3rd finger NOT_TRANSLATED +en Absent 4th finger HP:0009281 IAO:0000115 nl Absent 4th finger NOT_TRANSLATED +en Absent 5th (little) finger HP:0009238 IAO:0000115 nl Absent 5th (little) finger NOT_TRANSLATED +en Absent Achilles reflex HP:0003438 rdfs:label nl Afwezige Achillespees reflex CANDIDATE +en Absent Birbeck granules in Langerhans cells HP:0031872 rdfs:label nl Absent Birbeck granules in Langerhans cells NOT_TRANSLATED +en Absent P wave HP:0033122 rdfs:label nl Absent P wave NOT_TRANSLATED +en Absent TSH response to thyrotrophin-releasing hormone stimulation test HP:0033081 rdfs:label nl Absent TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED +en Absent abdominal reflex HP:0031827 rdfs:label nl Absent abdominal reflex NOT_TRANSLATED +en Absent ankle pulse HP:0031271 rdfs:label nl Afwezige enkel pulsatie CANDIDATE +en Absent anterior chamber of the eye HP:0008037 rdfs:label nl Afwezige voorste oogkamer CANDIDATE +en Absent antihelix HP:0011234 rdfs:label nl Afwezige antihelix CANDIDATE +en Absent antitragus HP:0011249 rdfs:label nl Afwezige antitragus CANDIDATE +en Absent aortic valve cusps HP:0031569 rdfs:label nl Afwezige aortaklep cusps CANDIDATE +en Absent atrioventricular node HP:0006681 rdfs:label nl Afwezige atrioventriculaire knoop CANDIDATE +en Absent axillary hair HP:0002221 rdfs:label nl Afwezig okselhaar CANDIDATE +en Absent brainstem auditory responses HP:0004463 rdfs:label nl Afwezige auditieve reacties van hersenstam CANDIDATE +en Absent bronchoalveolar dimeric surfactant-protein B HP:0032981 rdfs:label nl Absent bronchoalveolar dimeric surfactant-protein B NOT_TRANSLATED +en Absent bronchoalveolar surfactant-protein C HP:0032980 rdfs:label nl Absent bronchoalveolar surfactant-protein C NOT_TRANSLATED +en Absent cavum septum pellucidum HP:4000138 rdfs:label nl Absent cavum septum pellucidum NOT_TRANSLATED +en Absent central microtubular pair morphology of respiratory motile cilia HP:0012264 rdfs:label nl Absent central microtubular pair morphology of respiratory motile cilia NOT_TRANSLATED +en Absent cervical vertebra HP:0031175 rdfs:label nl Afwezige cervicale wervel CANDIDATE +en Absent circulating B cells HP:0030252 rdfs:label nl Afwezigheid van rijpe B-cellen CANDIDATE +en Absent corneal reflex HP:0034252 rdfs:label nl Absent corneal reflex NOT_TRANSLATED +en Absent coronary sinus HP:0031783 rdfs:label nl Absent coronary sinus NOT_TRANSLATED +en Absent cremaster reflex HP:0031829 rdfs:label nl Absent cremaster reflex NOT_TRANSLATED +en Absent crus of helix HP:0011255 rdfs:label nl Afwezige crus helicis CANDIDATE +en Absent cupid's bow HP:0010800 rdfs:label nl Afwezige cupidoboog CANDIDATE +en Absent dermoepidermal hemidesmosomes HP:0034256 rdfs:label nl Absent dermoepidermal hemidesmosomes NOT_TRANSLATED +en Absent development of the adrenal gland HP:0011743 IAO:0000115 nl Absent development of the adrenal gland NOT_TRANSLATED +en Absent distal interphalangeal creases HP:0001032 rdfs:label nl Afwezige distale interfalangeale plooien CANDIDATE +en Absent distal phalanges HP:0005807 rdfs:label nl Afwezige distale falangen CANDIDATE +en Absent distal phalanx of the 2nd toe HP:0010432 rdfs:label nl Afwezige distale falanx van de 2e teen CANDIDATE +en Absent distal phalanx of the 3rd toe HP:0100378 rdfs:label nl Afwezige distale falanx van de 3e teen CANDIDATE +en Absent dorsal skin creases over affected joints HP:0001049 rdfs:label nl Afwezige dorsale huidplooien op getroffen gewrichten CANDIDATE +en Absent earlobe HP:0000387 rdfs:label nl Afwezige oorlel CANDIDATE +en Absent end-diastolic umbilical artery flow HP:0034224 rdfs:label nl Absent end-diastolic umbilical artery flow NOT_TRANSLATED +en Absent epididymidis HP:0034480 rdfs:label nl Absent epididymidis NOT_TRANSLATED +en Absent epiphyses HP:0010577 rdfs:label nl Afwezige epifysen CANDIDATE +en Absent epiphyses of the 2nd finger HP:0009488 rdfs:label nl Afwezige epifysen van de 2e vinger CANDIDATE +en Absent epiphyses of the 2nd toe HP:0100044 rdfs:label nl Afwezige epifysen van de 2e teen CANDIDATE +en Absent epiphyses of the 3rd finger HP:0009410 rdfs:label nl Afwezig epifyses van de 3e vinger CANDIDATE +en Absent epiphyses of the 3rd toe HP:0100055 rdfs:label nl Afwezige epifysen van de 3e teen CANDIDATE +en Absent epiphyses of the 4th finger HP:0009393 rdfs:label nl Afwezig epifysen van de 4e vinger CANDIDATE +en Absent epiphyses of the 4th toe HP:0100066 rdfs:label nl Afwezige epifysen van de 4e teen CANDIDATE +en Absent epiphyses of the 5th finger HP:0009382 rdfs:label nl Afwezig epifyses van de 5e vinger CANDIDATE +en Absent epiphyses of the 5th toe HP:0100077 rdfs:label nl Afwezig epifysen van de 5e teen CANDIDATE +en Absent epiphyses of the distal phalanges of the hand HP:0010246 rdfs:label nl Afwezige epifysen van distale falangen van hand CANDIDATE +en Absent epiphyses of the middle phalanges of the hand HP:0010257 rdfs:label nl Afwezige epifysen van middelste falangen van hand CANDIDATE +en Absent epiphyses of the phalanges of the hand HP:0010228 rdfs:label nl Afwezige epifysen van falangen van hand CANDIDATE +en Absent epiphyses of the proximal phalanges of the hand HP:0010268 rdfs:label nl Afwezige epifysen van middelste falangen van hand CANDIDATE +en Absent epiphyses of the thumb HP:0009686 rdfs:label nl Afwezige epifysen van de duim CANDIDATE +en Absent epiphyses of the toes HP:0010162 rdfs:label nl Afwezig epifysen van de tenen CANDIDATE +en Absent epiphysis of the 1st metacarpal HP:0010015 rdfs:label nl Afwezige epifyse van de 1e metacarpaal CANDIDATE +en Absent epiphysis of the 1st metatarsal HP:0010149 rdfs:label nl Afwezige epifyse van de 1e metatarsaal CANDIDATE +en Absent epiphysis of the distal phalanx of the 2nd finger HP:0009502 rdfs:label nl Afwezige epifyse van de distale falanx van de 2e vinger CANDIDATE +en Absent epiphysis of the distal phalanx of the 2nd toe HP:0100100 rdfs:label nl Afwezige epifyse van de distale falanx van de 2e teen CANDIDATE +en Absent epiphysis of the distal phalanx of the 3rd finger HP:0009335 rdfs:label nl Afwezige epifyse van de distale falanx van de 3e vinger CANDIDATE +en Absent epiphysis of the distal phalanx of the 3rd toe HP:0100135 rdfs:label nl Afwezige epifyse van de distale falanx van de 3e teen CANDIDATE +en Absent epiphysis of the distal phalanx of the 4th finger HP:0009250 rdfs:label nl Afwezige epifyse van de distale falanx van de 4e vinger CANDIDATE +en Absent epiphysis of the distal phalanx of the 4th toe HP:0100169 rdfs:label nl Afwezige epifyse van de distale falanx van de 4e teen CANDIDATE +en Absent epiphysis of the distal phalanx of the 5th finger HP:0003696 rdfs:label nl Afwezige epifyse van de distale falanx van de 5e vinger CANDIDATE +en Absent epiphysis of the distal phalanx of the 5th toe HP:0100202 rdfs:label nl Afwezige epifyse van de distale falanx van de 5e teen CANDIDATE +en Absent epiphysis of the distal phalanx of the hallux HP:0010138 rdfs:label nl Afwezig epifyse van de distale falanx van de hallux CANDIDATE +en Absent epiphysis of the distal phalanx of the thumb HP:0009675 rdfs:label nl Afwezige epifyse van de distale falanx van de duim CANDIDATE +en Absent epiphysis of the middle phalanx of the 2nd finger HP:0009513 rdfs:label nl Afwezige epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Absent epiphysis of the middle phalanx of the 2nd toe HP:0100111 rdfs:label nl Afwezige epifyse van de middelste falanx van de 2e teen CANDIDATE +en Absent epiphysis of the middle phalanx of the 3rd finger HP:0009321 rdfs:label nl Afwezige epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Absent epiphysis of the middle phalanx of the 3rd toe HP:0100146 rdfs:label nl Afwezige epifyse van de middelste falanx van de 3e teen CANDIDATE +en Absent epiphysis of the middle phalanx of the 4th finger HP:0009214 rdfs:label nl Afwezige epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Absent epiphysis of the middle phalanx of the 4th toe HP:0100180 rdfs:label nl Afwezige epifyse van de middelste falanx van de 4e teen CANDIDATE +en Absent epiphysis of the middle phalanx of the 5th finger HP:0009203 rdfs:label nl Afwezige epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Absent epiphysis of the middle phalanx of the 5th toe HP:0100213 rdfs:label nl Afwezige epifyse van de middelste falanx van de 5e teen CANDIDATE +en Absent epiphysis of the proximal phalanx of the 2nd finger HP:0009524 rdfs:label nl Afwezig epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Absent epiphysis of the proximal phalanx of the 2nd toe HP:0100122 rdfs:label nl Afwezig epifyse van de proximale falanx van de 2e teen CANDIDATE +en Absent epiphysis of the proximal phalanx of the 3rd finger HP:0009346 rdfs:label nl Afwezig epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Absent epiphysis of the proximal phalanx of the 3rd toe HP:0100157 rdfs:label nl Afwezig epifyse van de proximale falanx van de 3e teen CANDIDATE +en Absent epiphysis of the proximal phalanx of the 4th finger HP:0009261 rdfs:label nl Afwezig epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Absent epiphysis of the proximal phalanx of the 4th toe HP:0100191 rdfs:label nl Afwezig epifyse van de proximale falanx van de 4e teen CANDIDATE +en Absent epiphysis of the proximal phalanx of the 5th finger HP:0009160 rdfs:label nl Afwezig epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Absent epiphysis of the proximal phalanx of the 5th toe HP:0100224 rdfs:label nl Afwezig epifyse van de proximale falanx van de 5e teen CANDIDATE +en Absent epiphysis of the proximal phalanx of the hallux HP:0010127 rdfs:label nl Afwezig epifyse van de proximale falanx van de hallux CANDIDATE +en Absent epiphysis of the proximal phalanx of the thumb HP:0009664 rdfs:label nl Afwezig epifyse van de proximale falanx van de duim CANDIDATE +en Absent ethmoidal sinuses HP:0005456 rdfs:label nl Afwezige ethmoïdale sinussen CANDIDATE +en Absent external genitalia HP:0000042 rdfs:label nl Afwezigheid van externe genitaliën CANDIDATE +en Absent extraocular muscles HP:0007886 rdfs:label nl Afwezige extra-oculaire spieren CANDIDATE +en Absent eyebrow HP:0002223 rdfs:label nl Afwezige wenkbrauw CANDIDATE +en Absent eyelashes HP:0000561 rdfs:label nl Afwezige wimpers CANDIDATE +en Absent eyelids HP:0011224 IAO:0000115 nl Absent eyelids NOT_TRANSLATED +en Absent facial hair HP:0002550 rdfs:label nl Afwezig gezichtshaar CANDIDATE +en Absent fetal nasal bone HP:0025706 rdfs:label nl Absent fetal nasal bone NOT_TRANSLATED +en Absent fifth fingernail HP:0200104 rdfs:label nl Afwezige vijfde vingernagel CANDIDATE +en Absent fifth metatarsal HP:0008079 rdfs:label nl Afwezige vijfde metatarsaal CANDIDATE +en Absent fifth toenail HP:0200105 rdfs:label nl Afwezige vijfde teennagel CANDIDATE +en Absent fingernail HP:0001817 rdfs:label nl Afwezige vingernagel CANDIDATE +en Absent first metacarpal (long bone) of the hand HP:0010035 IAO:0000115 nl Absent first metacarpal (long bone) of the hand NOT_TRANSLATED +en Absent first metatarsal HP:0010104 rdfs:label nl Afwezige eerste metatarsaal CANDIDATE +en Absent foot HP:0011301 rdfs:label nl Afwezige voet CANDIDATE +en Absent forearm HP:0005632 rdfs:label nl Afwezige onderarm CANDIDATE +en Absent forearm bone HP:0003953 rdfs:label nl Afwezig bot van onderarm CANDIDATE +en Absent fourth finger distal interphalangeal crease HP:0005780 rdfs:label nl Afwezige vierde vinger distale interfalangeale plooi CANDIDATE +en Absent foveal reflex HP:0030825 rdfs:label nl Afwezige foveale reflex CANDIDATE +en Absent frontal sinuses HP:0002688 rdfs:label nl Afwezige frontale sinussen CANDIDATE +en Absent gallbladder HP:0011467 rdfs:label nl Afwezige galblaas CANDIDATE +en Absent glenoid fossa HP:0006591 rdfs:label nl Afwezig glenoïde fossa CANDIDATE +en Absent hair HP:0002298 rdfs:label nl Afwezig haar CANDIDATE +en Absent hallux HP:0012386 rdfs:label nl Afwezig hallux CANDIDATE +en Absent hallux epiphysis HP:0010113 rdfs:label nl Afwezige epifysen van hallux CANDIDATE +en Absent hand HP:0004050 rdfs:label nl Afwezige hand CANDIDATE +en Absent hippocampal commissure HP:0033646 rdfs:label nl Absent hippocampal commissure NOT_TRANSLATED +en Absent humeral epiphyseal ossification HP:0003892 rdfs:label nl Afwezig epifysaire ossificatie van humerus CANDIDATE +en Absent humerus HP:0003862 rdfs:label nl Afwezige humerus CANDIDATE +en Absent in utero ossification of vertebral bodies HP:0008435 rdfs:label nl Afwezige ossificatie van wervellichamen in utero CANDIDATE +en Absent in utero rib ossification HP:0006615 rdfs:label nl Afwezige rib ossificatie in utero CANDIDATE +en Absent inner and outer dynein arms HP:0012259 rdfs:label nl Afwezige binnenste en buitenste dyneïne-armen CANDIDATE +en Absent inner dynein arms HP:0012257 rdfs:label nl Afwezige binnenste dyneïne-armen CANDIDATE +en Absent inner eyelashes HP:0007708 rdfs:label nl Afwezige binnenste wimpers CANDIDATE +en Absent internal auditory canal HP:0011385 rdfs:label nl Afwezige interne gehoorgang CANDIDATE +en Absent internal genitalia HP:0008702 rdfs:label nl Afwezige interne genitaliën CANDIDATE +en Absent isohemagglutinin level HP:0410293 rdfs:label nl Absent isohemagglutinin level NOT_TRANSLATED +en Absent keratohyalin granules HP:0033807 rdfs:label nl Absent keratohyalin granules NOT_TRANSLATED +en Absent knee epiphyses HP:0006400 rdfs:label nl Afwezige epifysen van knie CANDIDATE +en Absent lacrimal punctum HP:0001092 rdfs:label nl Afwezig punctum lacrimale CANDIDATE +en Absent lanugo HP:0034262 rdfs:label nl Absent lanugo NOT_TRANSLATED +en Absent left main coronary artery HP:0031639 rdfs:label nl Absent left main coronary artery NOT_TRANSLATED +en Absent left sided atrioventricular connection HP:0011547 rdfs:label nl Afwezige linkszijdige atrioventriculaire verbinding CANDIDATE +en Absent leukocyte alkaline phosphatase HP:0008161 rdfs:label nl Afwezig alkalisch fosfatase van de leukocyten CANDIDATE +en Absent lower eyelashes HP:0007646 rdfs:label nl Afwezige onderste wimpers CANDIDATE +en Absent lunula HP:0030805 rdfs:label nl Afwezige lunula CANDIDATE +en Absent malleus HP:0011455 rdfs:label nl Afwezige malleus CANDIDATE +en Absent mastoid HP:0012761 rdfs:label nl Afwezig mastoïd CANDIDATE +en Absent mesencephalon HP:0007265 rdfs:label nl Afwezig mesencephalon CANDIDATE +en Absent metacarpal epiphyses HP:0009196 rdfs:label nl Afwezige epifysen van de metacarpalen CANDIDATE +en Absent metatarsal bone HP:0010744 rdfs:label nl Afwezig metatarsaal bot CANDIDATE +en Absent microvilli on the surface of peripheral blood lymphocytes HP:0002971 rdfs:label nl Afwezige microvilli op het oppervlak van lymfocyten in perifeer bloed CANDIDATE +en Absent middle phalanx of 2nd finger HP:0009576 rdfs:label nl Afwezige middelste falanx van de 2e vinger CANDIDATE +en Absent middle phalanx of 3rd finger HP:0009438 rdfs:label nl Afwezige middelste falanx van de 3e vinger CANDIDATE +en Absent middle phalanx of 4th finger HP:0009294 rdfs:label nl Afwezige middelste falanx van de 4e vinger CANDIDATE +en Absent middle phalanx of 5th finger HP:0009162 rdfs:label nl Afwezige middelste falanx van de 5e vinger CANDIDATE +en Absent middle phalanx of the 3rd toe HP:0100381 rdfs:label nl Afwezige middelste falanx van de 3e teen CANDIDATE +en Absent muscle dystrophin expression HP:0030097 rdfs:label nl Afwezige spier dystrofine expressie CANDIDATE +en Absent muscle fiber alpha sarcoglycan HP:0030101 rdfs:label nl Afwezig spiervezel alfa-sarcoglycaan CANDIDATE +en Absent muscle fiber beta sarcoglycan HP:0030106 rdfs:label nl Afwezig spiervezel beta-sarcoglycaan CANDIDATE +en Absent muscle fiber calpain-3 HP:0030120 rdfs:label nl Afwezig spiervezel calpaïne-3 CANDIDATE +en Absent muscle fiber delta sarcoglycan HP:0030110 rdfs:label nl Afwezig spiervezel delta-sarcoglycaan CANDIDATE +en Absent muscle fiber dysferlin HP:0030114 rdfs:label nl Afwezig spiervezel dysferline CANDIDATE +en Absent muscle fiber emerin HP:0030117 rdfs:label nl Afwezige spiervezel emerine CANDIDATE +en Absent muscle fiber gamma sarcoglycan HP:0030109 rdfs:label nl Afwezig spiervezel gamma-sarcoglycaan CANDIDATE +en Absent muscle fiber merosin HP:0030091 rdfs:label nl Afwezige spiervezel merosine CANDIDATE +en Absent nail of big toe HP:0012555 IAO:0000115 nl Absent nail of big toe NOT_TRANSLATED +en Absent nail of hallux HP:0012555 rdfs:label nl Afwezige nagel van hallux CANDIDATE +en Absent nares HP:0100596 rdfs:label nl Afwezige neusgaten CANDIDATE +en Absent nasal bridge HP:0005285 rdfs:label nl Afwezige neusbrug CANDIDATE +en Absent nasal cartilage HP:0030028 rdfs:label nl Afwezig nasaal kraakbeen CANDIDATE +en Absent nasal septal cartilage HP:0005273 rdfs:label nl Afwezig kraakbeen septum nasi CANDIDATE +en Absent natural killer cells HP:0040219 rdfs:label nl Afwezige natural killer cellen CANDIDATE +en Absent neutrophil lactoferrin HP:0041042 rdfs:label nl Absent neutrophil lactoferrin NOT_TRANSLATED +en Absent neutrophil specific granules HP:0012551 rdfs:label nl Afwezig van neutrofiel specifieke granules CANDIDATE +en Absent nipple HP:0002561 rdfs:label nl Afwezige tepel CANDIDATE +en Absent or minimally ossified vertebral bodies HP:0004599 rdfs:label nl Afwezige of minimale ossificatie van wervellichamen CANDIDATE +en Absent or nearly absent fibula. (Does not include aplastic) HP:0006381 IAO:0000115 nl Absent or nearly absent fibula. (Does not include aplastic) NOT_TRANSLATED +en Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course HP:0020174 IAO:0000115 nl Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course NOT_TRANSLATED +en Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) HP:0410293 IAO:0000115 nl Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) NOT_TRANSLATED +en Absent ossification of calvaria HP:0005623 rdfs:label nl Absent ossification of calvaria NOT_TRANSLATED +en Absent ossification of capital femoral epiphysis HP:0008820 rdfs:label nl Afwezige ossificatie van proximale epifyse van femurkop CANDIDATE +en Absent ossification of cervical vertebral bodies HP:0005885 rdfs:label nl Afwezige ossificatie van cervicale wervellichamen CANDIDATE +en Absent ossification of the calvaria (vault of the skull) HP:0005623 IAO:0000115 nl Absent ossification of the calvaria (vault of the skull) NOT_TRANSLATED +en Absent ossification of the trapezium HP:0045002 rdfs:label nl Afwezige ossificatie van het trapezium CANDIDATE +en Absent ossification of thoracic vertebral bodies HP:0012792 rdfs:label nl Afwezige ossificatie van thoracale wervellichamen CANDIDATE +en Absent otoacoustic emissions HP:6000182 rdfs:label nl Afwezige otoakoestische emissies OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Absent outer dynein arms HP:0012256 rdfs:label nl Afwezige buitenste dyneïne-armen CANDIDATE +en Absent palatine bone ossification HP:0430013 rdfs:label nl Afwezige ossificatie van os palatinum CANDIDATE +en Absent palmar crease HP:0010489 rdfs:label nl Afwezige handlijn CANDIDATE +en Absent paranasal sinuses HP:0002689 rdfs:label nl Afwezige neusbijholten CANDIDATE +en Absent patellar reflexes HP:0006844 rdfs:label nl Afwezige patellaire reflexen CANDIDATE +en Absent penis HP:0030261 rdfs:label nl Afwezige penis CANDIDATE +en Absent peripheral lymph nodes in presence of infection HP:0033581 rdfs:label nl Absent peripheral lymph nodes in presence of infection NOT_TRANSLATED +en Absent phalangeal crease HP:0006109 rdfs:label nl Absent phalangeal crease NOT_TRANSLATED +en Absent pigmentation of chest HP:0040007 rdfs:label nl Afwezigheid van pigmentatie van borst CANDIDATE +en Absent pigmentation of the abdomen HP:0012319 rdfs:label nl Afwezige pigmentatie van de buik CANDIDATE +en Absent pigmentation of the limbs HP:0012320 rdfs:label nl Afwezige pigmentatie van de ledematen CANDIDATE +en Absent pigmentation of the ventral chest HP:0007542 rdfs:label nl Afwezige pigmentatie van de ventrale borst CANDIDATE +en Absent platelet dense granules HP:0033263 rdfs:label nl Absent platelet dense granules NOT_TRANSLATED +en Absent posterior alpha rhythm HP:0031518 rdfs:label nl Afwezig posterieur alfa-ritme CANDIDATE +en Absent primary metaphyseal spongiosa HP:0003332 rdfs:label nl Afwezige primaire metafysaire spongiosa CANDIDATE +en Absent proximal finger flexion creases HP:0006077 rdfs:label nl Afwezige proximale vinger flexie plooien CANDIDATE +en Absent proximal phalanx of the 3rd toe HP:0100384 rdfs:label nl Afwezige proximale falanx van de 3e teen CANDIDATE +en Absent proximal phalanx of thumb HP:0009637 rdfs:label nl Afwezige proximale falanx van de duim CANDIDATE +en Absent proximal radial epiphyses HP:0005093 rdfs:label nl Afwezige proximale epifysen van de radius CANDIDATE +en Absent pubertal growth spurt HP:0031087 rdfs:label nl Afwezige puberale groeispurt CANDIDATE +en Absent pubic hair HP:0002555 rdfs:label nl Afwezig schaamhaar CANDIDATE +en Absent pulmonary artery HP:0004960 rdfs:label nl Afwezige arteria pulmonalis CANDIDATE +en Absent pulse HP:0032554 rdfs:label nl Absent pulse NOT_TRANSLATED +en Absent radius HP:0003974 rdfs:label nl Afwezige radius CANDIDATE +en Absent ray HP:0030030 rdfs:label nl Afwezige straal CANDIDATE +en Absent respiratory ciliary axoneme radial spokes HP:0012267 rdfs:label nl Absent respiratory ciliary axoneme radial spokes NOT_TRANSLATED +en Absent response to a pattern electroretinogram (PERG) HP:0030844 IAO:0000115 nl Absent response to a pattern electroretinogram (PERG) NOT_TRANSLATED +en Absent retinal pigment epithelium HP:0007980 rdfs:label nl Afwezig retina pigment epitheel CANDIDATE +en Absent right sided atrioventricular connection HP:0011548 rdfs:label nl Afwezige rechtszijdige atrioventriculaire verbinding CANDIDATE +en Absent right superior vena cava HP:0011666 rdfs:label nl Afwijkende rechter vena cava superior CANDIDATE +en Absent scaphoid HP:0011835 rdfs:label nl Afwezig scaphoid CANDIDATE +en Absent scrotum HP:0008707 rdfs:label nl Afwezig scrotum CANDIDATE +en Absent sebaceous glands HP:0410400 rdfs:label nl Absent sebaceous glands NOT_TRANSLATED +en Absent second fingernail HP:0033975 rdfs:label nl Absent second fingernail NOT_TRANSLATED +en Absent septum pellucidum HP:0001331 rdfs:label nl Afwezig septum pellucidum CANDIDATE +en Absent skin pigmentation HP:0200098 rdfs:label nl Afwezigheid van huidpigmentatie CANDIDATE +en Absent smooth pursuit HP:0007179 rdfs:label nl Afwezigheid van soepele volging CANDIDATE +en Absent soft palate HP:0031046 rdfs:label nl Afwezig zacht gehemelte CANDIDATE +en Absent specific antibody response HP:0005424 rdfs:label nl Afwezige specifieke antistofrespons afwezig CANDIDATE +en Absent speech HP:0001344 rdfs:label nl Afwezige spraak CANDIDATE +en Absent sperm axoneme central pair complex HP:0033525 rdfs:label nl Absent sperm axoneme central pair complex NOT_TRANSLATED +en Absent sperm flagella HP:0032558 rdfs:label nl Absent sperm flagella NOT_TRANSLATED +en Absent spinous processes of lower thoracic and lumbar vertebrae HP:0008464 rdfs:label nl Afwezige processus spinosus van lagere thoracale en lumbale wervels CANDIDATE +en Absent stapes HP:0011456 rdfs:label nl Afwezig stapes CANDIDATE +en Absent stapes head HP:0200111 rdfs:label nl Afwezig stapes kopje CANDIDATE +en Absent sternal ossification HP:0006628 rdfs:label nl Afwezige sternale ossificatie CANDIDATE +en Absent styloid process of ulna HP:0005068 rdfs:label nl Afwezig processus styloideus ulnae CANDIDATE +en Absent talus owing to a congenital defect HP:0033977 IAO:0000115 nl Absent talus owing to a congenital defect NOT_TRANSLATED +en Absent testis HP:0010469 rdfs:label nl Afwezige testis CANDIDATE +en Absent thoracic vertebra HP:0031176 rdfs:label nl Afwezige thoracale wervel CANDIDATE +en Absent thumb HP:0009777 rdfs:label nl Afwezige duim CANDIDATE +en Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues HP:0009777 IAO:0000115 nl Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues NOT_TRANSLATED +en Absent thumbnail HP:0012554 rdfs:label nl Afwezige duimnagel CANDIDATE +en Absent tibia HP:0009556 rdfs:label nl Afwezige tibia CANDIDATE +en Absent toe HP:0010760 rdfs:label nl Afwezige teen CANDIDATE +en Absent toenail HP:0001802 rdfs:label nl Afwezige teennagel CANDIDATE +en Absent tonsils HP:0030813 rdfs:label nl Afwezige tonsillen CANDIDATE +en Absent tragus HP:0011268 rdfs:label nl Afwezige tragus CANDIDATE +en Absent trapezium HP:0004253 rdfs:label nl Afwezig trapezium CANDIDATE +en Absent trapezoid bone HP:0006106 rdfs:label nl Afwezig os trapezium CANDIDATE +en Absent upper eyelashes HP:0040056 rdfs:label nl Afwezige bovenste wimpers CANDIDATE +en Absent urinary urothione HP:0003606 rdfs:label nl Afwezig urine urothione CANDIDATE +en Absent uvula HP:0010292 rdfs:label nl Afwezige uvula CANDIDATE +en Absent vas deferens HP:0012873 rdfs:label nl Afwezige vas deferens CANDIDATE +en Absent vertebra HP:0008465 rdfs:label nl Afwezige wervel CANDIDATE +en Absent vertebral body mineralization HP:0004605 rdfs:label nl Afwezige wervellichaam mineralisatie CANDIDATE +en Absent vestibular function HP:0008555 rdfs:label nl Afwezig vestibulaire functie CANDIDATE +en Absent/hypoplastic coccyx HP:0008436 rdfs:label nl Afwezig/hypoplastisch coccyx CANDIDATE +en Absent/hypoplastic paranasal sinuses HP:0005453 rdfs:label nl Afwezige/hypoplastische paranasale sinussen CANDIDATE +en Absent/shortened dynein arms HP:0200106 rdfs:label nl Afwezige/verkorte dyneïne-armen CANDIDATE +en Absent/shortened outer dynein arms HP:0200109 rdfs:label nl Afwezige/verkorte buitenste dyneïne-armen CANDIDATE +en Absolute eccentric fixation HP:0500072 rdfs:label nl Absolute eccentric fixation NOT_TRANSLATED +en Abulia HP:0012671 rdfs:label nl Abulie CANDIDATE +en Acanthocytosis HP:0001927 rdfs:label nl Acanthocytose CANDIDATE +en Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars HP:0001927 IAO:0000115 nl Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars NOT_TRANSLATED +en Acantholysis HP:0100792 rdfs:label nl Acantholyse CANDIDATE +en Acanthoma HP:0025432 rdfs:label nl Acanthoom CANDIDATE +en Acanthosis nigricans HP:0000956 rdfs:label nl Acanthosis nigricans CANDIDATE +en Accelerated atherosclerosis HP:0004943 rdfs:label nl Versnelde atherosclerose CANDIDATE +en Accelerated bone age after puberty HP:0002805 rdfs:label nl Versnelde bot leeftijd na de puberteit CANDIDATE +en Accelerated skeletal maturation HP:0005616 rdfs:label nl Versnelde skeletale maturatie CANDIDATE +en Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border HP:0002002 IAO:0000115 nl Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border NOT_TRANSLATED +en Accentuation of the grooves on the dorsal surface of the tongue HP:0000221 IAO:0000115 nl Accentuation of the grooves on the dorsal surface of the tongue NOT_TRANSLATED +en Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended HP:0033616 IAO:0000115 nl Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended NOT_TRANSLATED +en Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus HP:0033615 IAO:0000115 nl Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus NOT_TRANSLATED +en Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus HP:0033617 IAO:0000115 nl Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus NOT_TRANSLATED +en Accessory cardiac bronchus HP:0033616 rdfs:label nl Accessory cardiac bronchus NOT_TRANSLATED +en Accessory carpal bones HP:0004232 rdfs:label nl Accessoire carpale botten CANDIDATE +en Accessory cranial suture HP:0012800 rdfs:label nl Extra craniale sutuur CANDIDATE +en Accessory ectopic thyroid tissue HP:0100030 rdfs:label nl Accessoire ectopische schildklier weefsel CANDIDATE +en Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract HP:0100030 IAO:0000115 nl Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract NOT_TRANSLATED +en Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus HP:0033618 IAO:0000115 nl Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus NOT_TRANSLATED +en Accessory eyelid HP:0430008 rdfs:label nl Extra ooglid CANDIDATE +en Accessory lunate HP:0004249 rdfs:label nl Accessoire os lunatum CANDIDATE +en Accessory oral frenulum HP:0000191 rdfs:label nl Overtollig oraal frenulum CANDIDATE +en Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove HP:0011717 IAO:0000115 nl Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove NOT_TRANSLATED +en Accessory scaphoid HP:0004244 rdfs:label nl Extra scafoïd CANDIDATE +en Accessory scrotum HP:0030274 rdfs:label nl Extra scrotum CANDIDATE +en Accessory spleen HP:0001747 rdfs:label nl Bijmilt CANDIDATE +en Accommodative esotropia HP:0020046 rdfs:label nl Accommodatieve esotropie CANDIDATE +en According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities HP:0006528 IAO:0000115 nl According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities NOT_TRANSLATED +en Accumulation in muscle cells of filaments composed of actin HP:0025200 IAO:0000115 nl Accumulation in muscle cells of filaments composed of actin NOT_TRANSLATED +en Accumulation of abnormal amounts of pigment within the trabecular meshwork HP:0012631 IAO:0000115 nl Accumulation of abnormal amounts of pigment within the trabecular meshwork NOT_TRANSLATED +en Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung HP:0002107 IAO:0000115 nl Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung NOT_TRANSLATED +en Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis HP:0006517 IAO:0000115 nl Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis NOT_TRANSLATED +en Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis HP:0033904 IAO:0000115 nl Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis NOT_TRANSLATED +en Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section HP:0033219 IAO:0000115 nl Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section NOT_TRANSLATED +en Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole HP:0033218 IAO:0000115 nl Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole NOT_TRANSLATED +en Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum HP:0033217 IAO:0000115 nl Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum NOT_TRANSLATED +en Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular HP:0033216 IAO:0000115 nl Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular NOT_TRANSLATED +en Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining) HP:0032616 IAO:0000115 nl Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining) NOT_TRANSLATED +en Accumulation of blood in the peritoneal cavity owing to internal hemorrhage HP:0011854 IAO:0000115 nl Accumulation of blood in the peritoneal cavity owing to internal hemorrhage NOT_TRANSLATED +en Accumulation of blood in the vagina usually due to vaginal obstruction HP:0031923 IAO:0000115 nl Accumulation of blood in the vagina usually due to vaginal obstruction NOT_TRANSLATED +en Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium HP:0025243 IAO:0000115 nl Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium NOT_TRANSLATED +en Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location HP:0025242 IAO:0000115 nl Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location NOT_TRANSLATED +en Accumulation of blood within the pericardial sac HP:0011851 IAO:0000115 nl Accumulation of blood within the pericardial sac NOT_TRANSLATED +en Accumulation of calcium salts in the pineal gland HP:0012682 IAO:0000115 nl Accumulation of calcium salts in the pineal gland NOT_TRANSLATED +en Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds HP:0005225 IAO:0000115 nl Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds NOT_TRANSLATED +en Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct HP:0011852 IAO:0000115 nl Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct NOT_TRANSLATED +en Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis HP:0000034 IAO:0000115 nl Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis NOT_TRANSLATED +en Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining HP:0033915 IAO:0000115 nl Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining NOT_TRANSLATED +en Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining HP:0033880 IAO:0000115 nl Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining NOT_TRANSLATED +en Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining HP:0033960 IAO:0000115 nl Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining NOT_TRANSLATED +en Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining HP:0033965 IAO:0000115 nl Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining NOT_TRANSLATED +en Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity HP:0010310 IAO:0000115 nl Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity NOT_TRANSLATED +en Accumulation of fluid in the peritoneal cavity HP:0001541 IAO:0000115 nl Accumulation of fluid in the peritoneal cavity NOT_TRANSLATED +en Accumulation of fluid in the peritoneal cavity during the fetal period HP:0001791 IAO:0000115 nl Accumulation of fluid in the peritoneal cavity during the fetal period NOT_TRANSLATED +en Accumulation of fluid within the pericardium HP:0001698 IAO:0000115 nl Accumulation of fluid within the pericardium NOT_TRANSLATED +en Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles HP:0032582 IAO:0000115 nl Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles NOT_TRANSLATED +en Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC) HP:0033064 IAO:0000115 nl Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC) NOT_TRANSLATED +en Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide HP:0034379 IAO:0000115 nl Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide NOT_TRANSLATED +en Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells HP:0033244 IAO:0000115 nl Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells NOT_TRANSLATED +en Accumulation of inhaled, nondigestable particles in macrophages HP:0032985 IAO:0000115 nl Accumulation of inhaled, nondigestable particles in macrophages NOT_TRANSLATED +en Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery HP:0031272 IAO:0000115 nl Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery NOT_TRANSLATED +en Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions HP:0032978 IAO:0000115 nl Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions NOT_TRANSLATED +en Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed HP:0025678 IAO:0000115 nl Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed NOT_TRANSLATED +en Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney HP:0033934 IAO:0000115 nl Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED +en Accumulation of melanosomes in melanocytes HP:0001008 rdfs:label nl Accumulatie van melanosomens in melanocyten CANDIDATE +en Accumulation of muscle fiber desmin HP:0030225 rdfs:label nl Accumulatie van spiervezel desmine CANDIDATE +en Accumulation of muscle fiber myotilin HP:0030227 rdfs:label nl Accumulatie van spiervezel myotiline CANDIDATE +en Accumulation of muscle fiber valosin-containing protein HP:0030229 rdfs:label nl Accumulatie van eiwit dat valosine bevat in spiervezel CANDIDATE +en Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney HP:0033881 IAO:0000115 nl Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney NOT_TRANSLATED +en Accumulation of pus in the pleural cavity HP:0011919 IAO:0000115 nl Accumulation of pus in the pleural cavity NOT_TRANSLATED +en Accumulation of scar tissue within the glomerulus HP:0000096 IAO:0000115 nl Accumulation of scar tissue within the glomerulus NOT_TRANSLATED +en Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac HP:0011853 IAO:0000115 nl Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac NOT_TRANSLATED +en Accumulation of substantial excess body fat HP:0001513 IAO:0000115 nl Accumulation of substantial excess body fat NOT_TRANSLATED +en Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft HP:0033313 IAO:0000115 nl Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft NOT_TRANSLATED +en Acellular urinary casts HP:0031199 rdfs:label nl Acellulaire cilinders CANDIDATE +en Acephalic spermatozoa HP:0012869 rdfs:label nl Acephalische spermatozoa CANDIDATE +en Aceruloplasminemia HP:0025498 rdfs:label nl Aceruloplasminemie CANDIDATE +en Acetabular dysplasia HP:0008807 rdfs:label nl Acetabulaire dysplasie CANDIDATE +en Acetabular erosions HP:0033640 rdfs:label nl Acetabular erosions NOT_TRANSLATED +en Acetabular spurs HP:0010454 rdfs:label nl Acetabulaire uitlopers CANDIDATE +en Achalasia HP:0002571 rdfs:label nl Achalasie CANDIDATE +en Achilles tendon calcification HP:0025441 rdfs:label nl Achillespees calcificatie CANDIDATE +en Achilles tendon contracture HP:0001771 rdfs:label nl Achillespeescontractuur CANDIDATE +en Achilles tendonitis HP:0025273 rdfs:label nl Achilles tendinitis CANDIDATE +en Achlorhydria HP:0032448 rdfs:label nl Achlorhydria NOT_TRANSLATED +en Acholic stools HP:0011985 rdfs:label nl Acholische faeces CANDIDATE +en Achromatic retinal patches HP:0009727 rdfs:label nl Retinale achromatische spots CANDIDATE +en Achromatopsia HP:0011516 rdfs:label nl Achromatopsie CANDIDATE +en Acidemia HP:0032368 rdfs:label nl Acidemia NOT_TRANSLATED +en Acidosis HP:0001941 rdfs:label nl Acidose CANDIDATE +en Acidosis (pH less than 7.35) that develops with an increase in ionic chloride HP:0001995 IAO:0000115 nl Acidosis (pH less than 7.35) that develops with an increase in ionic chloride NOT_TRANSLATED +en Acidosis because of respiratory retention of carbon dioxide HP:0005972 IAO:0000115 nl Acidosis because of respiratory retention of carbon dioxide NOT_TRANSLATED +en Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis HP:0001947 IAO:0000115 nl Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis NOT_TRANSLATED +en Acidosis resulting from accumulation of ketone bodies HP:0001993 IAO:0000115 nl Acidosis resulting from accumulation of ketone bodies NOT_TRANSLATED +en Aciduria HP:0012072 rdfs:label nl Acidurie CANDIDATE +en Acinar dysplasia HP:0033209 rdfs:label nl Acinar dysplasia NOT_TRANSLATED +en Acinetobacter infection HP:0032250 rdfs:label nl Acinetobacter infection NOT_TRANSLATED +en Acne HP:0001061 rdfs:label nl Acne CANDIDATE +en Acne inversa HP:0040154 rdfs:label nl Acne inversa CANDIDATE +en Acquired abnormal hair pattern HP:0011360 rdfs:label nl Verworven afwijkend haar patroon CANDIDATE +en Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative HP:0025355 IAO:0000115 nl Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative NOT_TRANSLATED +en Acral HP:0025292 rdfs:label nl Acraal CANDIDATE +en Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet HP:0033696 IAO:0000115 nl Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet NOT_TRANSLATED +en Acral blistering HP:0031045 rdfs:label nl Acrale blaarvorming CANDIDATE +en Acral lentiginous melanoma HP:0012060 rdfs:label nl Acraal lentigineus melanoom CANDIDATE +en Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution HP:0031181 IAO:0000115 nl Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution NOT_TRANSLATED +en Acral overgrowth HP:0033794 rdfs:label nl Acral overgrowth NOT_TRANSLATED +en Acral ulceration HP:0006121 rdfs:label nl Acrale ulceratie leidend tot auto-amputatie van vingers CANDIDATE +en Acrania HP:0030716 rdfs:label nl Acranie CANDIDATE +en Acrobrachycephaly HP:0004487 rdfs:label nl Acrobrachycephalie CANDIDATE +en Acrocyanosis HP:0001063 rdfs:label nl Acrocyanose CANDIDATE +en Acrokeratosis HP:0200016 rdfs:label nl Acrokeratosis CANDIDATE +en Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness HP:0000845 IAO:0000115 nl Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness NOT_TRANSLATED +en Acromelia HP:0010884 rdfs:label nl Acromelie CANDIDATE +en Acromelia of the lower limbs HP:0010494 rdfs:label nl Acromelie van de onderste ledematen CANDIDATE +en Acromelia of the upper limbs HP:0010482 rdfs:label nl Acromelie van de bovenste ledematen CANDIDATE +en Acromesomelia HP:0003086 rdfs:label nl Acromesomelie CANDIDATE +en Acromicria HP:0031878 rdfs:label nl Acromicria NOT_TRANSLATED +en Acroosteolysis of distal phalanges (feet) HP:0001870 rdfs:label nl Acroosteolysis van de distale falangen (voeten) CANDIDATE +en Acroparesthesia HP:0031006 rdfs:label nl Acroparesthesie CANDIDATE +en Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress HP:0100710 IAO:0000115 nl Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress NOT_TRANSLATED +en Actinic keratosis HP:0025127 rdfs:label nl Actinische keratose CANDIDATE +en Action myoclonus HP:0034360 rdfs:label nl Action myoclonus NOT_TRANSLATED +en Action tremor HP:0002345 rdfs:label nl Actie tremor CANDIDATE +en Activating thyroid-stimulating hormone receptor defect HP:0011790 rdfs:label nl Geactiveerd thyreoïdstimulerend hormoon receptor defect CANDIDATE +en Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain HP:0033429 IAO:0000115 nl Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain NOT_TRANSLATED +en Aculeiform cataract HP:0010926 rdfs:label nl Aculeiform cataract CANDIDATE +en Acute HP:0011009 rdfs:label nl Acuut CANDIDATE +en Acute abdomen HP:0033400 rdfs:label nl Acute abdomen NOT_TRANSLATED +en Acute appearance of disease manifestations in a period of days HP:0025308 IAO:0000115 nl Acute appearance of disease manifestations in a period of days NOT_TRANSLATED +en Acute appearance of disease manifestations in a period of hours HP:0025307 IAO:0000115 nl Acute appearance of disease manifestations in a period of hours NOT_TRANSLATED +en Acute appearance of disease manifestations in a period of minutes HP:0025306 IAO:0000115 nl Acute appearance of disease manifestations in a period of minutes NOT_TRANSLATED +en Acute aspiration pneumonia HP:0011952 rdfs:label nl Acute aspiratiepneumonie CANDIDATE +en Acute bronchitis HP:0012388 rdfs:label nl Acute bronchitis CANDIDATE +en Acute colitis HP:0100282 rdfs:label nl Acute colitis CANDIDATE +en Acute constipation HP:0012451 rdfs:label nl Acute constipatie CANDIDATE +en Acute coronary syndrome HP:0033678 rdfs:label nl Acute coronary syndrome NOT_TRANSLATED +en Acute cutaneous wound HP:0032675 rdfs:label nl Acute cutaneous wound NOT_TRANSLATED +en Acute demyelinating polyneuropathy HP:0007131 rdfs:label nl Acute demyeliniserende polyneuropathie CANDIDATE +en Acute disseminated intravascular coagulation HP:0011880 rdfs:label nl Acute diffuse intravasale stolling CANDIDATE +en Acute emergence over days HP:0025308 rdfs:label nl Acute opkomst in dagen CANDIDATE +en Acute emergence over hours HP:0025307 rdfs:label nl Acute opkomst in uren CANDIDATE +en Acute emergence over minutes HP:0025306 rdfs:label nl Acute opkomst in minuten CANDIDATE +en Acute encephalopathy HP:0006846 rdfs:label nl Acute encefalopathie CANDIDATE +en Acute episodes of neuropathic symptoms HP:0003489 rdfs:label nl Acute episoden van neuropathische symptomen CANDIDATE +en Acute esophageal necrosis HP:0011128 rdfs:label nl Acute oesofageale necrose CANDIDATE +en Acute hepatic failure HP:0006554 rdfs:label nl Acuut leverfalen CANDIDATE +en Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders HP:0200119 IAO:0000115 nl Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders NOT_TRANSLATED +en Acute hepatic steatosis HP:0006573 rdfs:label nl Acute hepatische steatose CANDIDATE +en Acute hepatitis HP:0200119 rdfs:label nl Acute hepatitis CANDIDATE +en Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice HP:0004787 IAO:0000115 nl Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice NOT_TRANSLATED +en Acute hyperammonemia HP:0008281 rdfs:label nl Acute hyperammoniëmie CANDIDATE +en Acute infantile spinal muscular atrophy HP:0007280 rdfs:label nl Acute infantiele spinale musculaire atrofie CANDIDATE +en Acute infectious pneumonia HP:0011949 rdfs:label nl Acute infectieuze pneumonie CANDIDATE +en Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules HP:0004729 IAO:0000115 nl Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules NOT_TRANSLATED +en Acute inflammation of the lung due to an infection HP:0011949 IAO:0000115 nl Acute inflammation of the lung due to an infection NOT_TRANSLATED +en Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured HP:0002140 IAO:0000115 nl Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured NOT_TRANSLATED +en Acute kidney injury HP:0001919 rdfs:label nl Acute nier verwonding CANDIDATE +en Acute leukemia HP:0002488 rdfs:label nl Acute leukemie CANDIDATE +en Acute lymphoblastic leukemia HP:0006721 rdfs:label nl Acute lymfatische leukemie CANDIDATE +en Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females HP:0006727 IAO:0000115 nl Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females NOT_TRANSLATED +en Acute megakaryocytic leukemia HP:0006733 rdfs:label nl Acute megakaryocytaire leukemie CANDIDATE +en Acute monocytic leukemia HP:0004845 rdfs:label nl Acute monocytaire leukemie CANDIDATE +en Acute myeloid leukemia HP:0004808 rdfs:label nl Acute myeloïde leukemie CANDIDATE +en Acute myelomonocytic leukemia HP:0004820 rdfs:label nl Acute myelomonocytaire leukemie CANDIDATE +en Acute necrotizing encephalopathy HP:0006965 rdfs:label nl Acute necrotiserende encefalopathie CANDIDATE +en Acute obstruction of the intestines preventing passage of the contents of the intestines HP:0002595 IAO:0000115 nl Acute obstruction of the intestines preventing passage of the contents of the intestines NOT_TRANSLATED +en Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery HP:0006702 IAO:0000115 nl Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery NOT_TRANSLATED +en Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain HP:0033762 IAO:0000115 nl Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain NOT_TRANSLATED +en Acute otitis media HP:0000371 rdfs:label nl Acute otitis media CANDIDATE +en Acute otitis media is a short and generally painful infection of the middle ear HP:0000371 IAO:0000115 nl Acute otitis media is a short and generally painful infection of the middle ear NOT_TRANSLATED +en Acute pancreatitis HP:0001735 rdfs:label nl Acute pancreatitis CANDIDATE +en Acute phase response HP:0033331 rdfs:label nl Acute phase response NOT_TRANSLATED +en Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration HP:0007131 IAO:0000115 nl Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration NOT_TRANSLATED +en Acute promyelocytic leukemia HP:0004836 rdfs:label nl Acute promyelocytenleukemie CANDIDATE +en Acute renal failure with resolution of manifestations HP:0004713 IAO:0000115 nl Acute renal failure with resolution of manifestations NOT_TRANSLATED +en Acute respiratory acidosis HP:0012467 rdfs:label nl Acute respiratoire acidose CANDIDATE +en Acute respiratory distress syndrome HP:0033677 rdfs:label nl Acute respiratory distress syndrome NOT_TRANSLATED +en Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300 HP:0033677 IAO:0000115 nl Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300 NOT_TRANSLATED +en Acute rhabdomyolysis HP:0008942 rdfs:label nl Acute rabdomyolyse CANDIDATE +en Acute sinusitis HP:0000255 rdfs:label nl Acute sinusitis CANDIDATE +en Acute tubulointerstitial nephritis HP:0004729 rdfs:label nl Acute tubulointerstitiële nefritis CANDIDATE +en Adactyly HP:0009776 rdfs:label nl Adactylie CANDIDATE +en Addiction to a benzodiazepine HP:0033516 IAO:0000115 nl Addiction to a benzodiazepine NOT_TRANSLATED +en Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing HP:0033512 IAO:0000115 nl Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing NOT_TRANSLATED +en Addiction to amphetamine or dextroamphetamine HP:0033514 IAO:0000115 nl Addiction to amphetamine or dextroamphetamine NOT_TRANSLATED +en Addiction to cocaine HP:0033513 IAO:0000115 nl Addiction to cocaine NOT_TRANSLATED +en Addiction to heroin HP:0033517 IAO:0000115 nl Addiction to heroin NOT_TRANSLATED +en Addiction to inhaled nitrous oxide gas (N2O) HP:4000128 IAO:0000115 nl Addiction to inhaled nitrous oxide gas (N2O) NOT_TRANSLATED +en Addiction to methamphetamine HP:0033519 IAO:0000115 nl Addiction to methamphetamine NOT_TRANSLATED +en Addiction to methylphenidate HP:0033518 IAO:0000115 nl Addiction to methylphenidate NOT_TRANSLATED +en Addiction to opioids HP:0033515 IAO:0000115 nl Addiction to opioids NOT_TRANSLATED +en Addictive behavior HP:0030858 rdfs:label nl Verslavend gedrag CANDIDATE +en Additional crus of antihelix HP:0011235 rdfs:label nl Extra crus anthelicis CANDIDATE +en Additional cusps of a dental crown HP:0033777 IAO:0000115 nl Additional cusps of a dental crown NOT_TRANSLATED +en Additional scrotum, or part of a scrotum in an abnormal location HP:0030274 IAO:0000115 nl Additional scrotum, or part of a scrotum in an abnormal location NOT_TRANSLATED +en Adducted thumb HP:0001181 rdfs:label nl Geadduceerde duim CANDIDATE +en Adductor longus contractures HP:0006366 rdfs:label nl Adductor longus contracturen CANDIDATE +en Adenocarcinoma of the Bronchus HP:0006519 IAO:0000115 nl Adenocarcinoma of the Bronchus NOT_TRANSLATED +en Adenocarcinoma of the colon HP:0040276 rdfs:label nl Adenocarcinoom van het colon CANDIDATE +en Adenocarcinoma of the intestines HP:0040273 rdfs:label nl Adenocarcinoom van de darmen CANDIDATE +en Adenocarcinoma of the large intestine HP:0040275 rdfs:label nl Adenocarcinoom van de dikke darm CANDIDATE +en Adenocarcinoma of the small intestine HP:0040274 rdfs:label nl Adenocarcinoom van de dunne darm CANDIDATE +en Adenoiditis HP:0031458 rdfs:label nl Adenoïditis CANDIDATE +en Adenoma sebaceum HP:0009720 rdfs:label nl Adenoma sebaceum CANDIDATE +en Adenomatous colonic polyposis HP:0005227 rdfs:label nl Adenomateuze polyposis van colon CANDIDATE +en Adenomyosis HP:0034326 rdfs:label nl Adenomyosis NOT_TRANSLATED +en Adermatoglyphia HP:0007455 rdfs:label nl Adermatoglyfie CANDIDATE +en Adhesions between the iris and the cornea HP:0011483 IAO:0000115 nl Adhesions between the iris and the cornea NOT_TRANSLATED +en Adhesions between the iris and the lens HP:0011484 IAO:0000115 nl Adhesions between the iris and the lens NOT_TRANSLATED +en Adhesions or scar tissue that form inside the cavity of the uterus HP:0030712 IAO:0000115 nl Adhesions or scar tissue that form inside the cavity of the uterus NOT_TRANSLATED +en Adipocyte hypertrophy HP:0030759 rdfs:label nl Adipocyt hypertrofie CANDIDATE +en Adipose tissue loss HP:0008887 rdfs:label nl Vetweefsel verlies CANDIDATE +en Adrenal calcification HP:0010512 rdfs:label nl Bijnier calcificatie CANDIDATE +en Adrenal gland agenesis HP:0011743 rdfs:label nl Bijnier agenesie CANDIDATE +en Adrenal gland dysgenesis HP:0008216 rdfs:label nl Bijnier dysgenesie CANDIDATE +en Adrenal hyperplasia HP:0008221 rdfs:label nl Bijnier hyperplasie CANDIDATE +en Adrenal hypoplasia HP:0000835 rdfs:label nl Bijnier hypoplasie CANDIDATE +en Adrenal insufficiency HP:0000846 rdfs:label nl Bijnier insufficiëntie CANDIDATE +en Adrenal insufficiency secondary to a defect in ACTH production HP:0011735 IAO:0000115 nl Adrenal insufficiency secondary to a defect in ACTH production NOT_TRANSLATED +en Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production HP:0011737 IAO:0000115 nl Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production NOT_TRANSLATED +en Adrenal insufficiency secondary to a defect in the ACTH receptor HP:0008259 IAO:0000115 nl Adrenal insufficiency secondary to a defect in the ACTH receptor NOT_TRANSLATED +en Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor HP:0011738 IAO:0000115 nl Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor NOT_TRANSLATED +en Adrenal medullary hypoplasia HP:0008239 rdfs:label nl Bijniermerg hypoplasie CANDIDATE +en Adrenal overactivity HP:0002717 rdfs:label nl Bijnier overactiviteit CANDIDATE +en Adrenal pheochromocytoma HP:0006748 rdfs:label nl Feochromocytoom van de bijnier CANDIDATE +en Adrenocortical abnormality HP:0000849 rdfs:label nl Afwijking van de bijnierschors CANDIDATE +en Adrenocortical adenoma HP:0008256 rdfs:label nl Adrenocorticaal adenoom CANDIDATE +en Adrenocortical adenomas are benign tumors of the adrenal cortex HP:0008256 IAO:0000115 nl Adrenocortical adenomas are benign tumors of the adrenal cortex NOT_TRANSLATED +en Adrenocortical carcinoma HP:0006744 rdfs:label nl Adrenocorticaal carcinoom CANDIDATE +en Adrenocortical cytomegaly HP:0008186 rdfs:label nl Cytomegalie van de bijnierschors CANDIDATE +en Adrenocortical hypoplasia HP:0008182 rdfs:label nl Bijnierschors hypoplasie CANDIDATE +en Adrenocorticotropic hormone deficiency HP:0011748 rdfs:label nl Adrenocorticotropisch hormoon deficiëntie CANDIDATE +en Adrenocorticotropic hormone excess HP:0011749 rdfs:label nl Adrenocorticotropisch hormoon overschot CANDIDATE +en Adrenocorticotropin deficient adrenal insufficiency HP:0011735 rdfs:label nl Bijnierinsufficiëntie vanwege adrenocorticotropine tekort CANDIDATE +en Adrenocorticotropin receptor defect HP:0008259 rdfs:label nl Adrenocorticotropine receptor defect CANDIDATE +en Adrenogenital syndrome HP:0000840 rdfs:label nl Adrenogenitaal syndroom CANDIDATE +en Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects HP:0000840 IAO:0000115 nl Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects NOT_TRANSLATED +en Adult onset HP:0003581 rdfs:label nl Adult onset CANDIDATE +en Adult onset sensorineural hearing impairment HP:0008615 rdfs:label nl Adult onset van perceptieve slechthorendheid CANDIDATE +en Adult-onset night blindness HP:0007830 rdfs:label nl Adult-onset nachtblindheid CANDIDATE +en Advanced eruption of teeth HP:0006288 rdfs:label nl Gevorderd doorkomen van tanden CANDIDATE +en Advanced ossification of carpal bones HP:0004233 rdfs:label nl Geavanceerde ossificatie van carpale botten CANDIDATE +en Advanced ossification of the hand bones HP:0004051 rdfs:label nl Geavanceerde ossificatie van de botten van de hand CANDIDATE +en Advanced ossification of the humeral epiphysis HP:0003893 rdfs:label nl Geavanceerde ossificatie van de epifyse van de humerus CANDIDATE +en Advanced pneumatization of cranial sinuses HP:0010540 rdfs:label nl Geavanceerde pneumatisatie van craniale sinussen CANDIDATE +en Advanced pneumatization of the mastoid process HP:0010724 rdfs:label nl Vergevorderde pneumatisatie van processus mastoideus CANDIDATE +en Advanced sclerotic lupus nephritis HP:0033732 rdfs:label nl Advanced sclerotic lupus nephritis NOT_TRANSLATED +en Advanced tarsal ossification HP:0008108 rdfs:label nl Vergevorderde tarsale ossificatie CANDIDATE +en Adverse drug response HP:0020172 rdfs:label nl Adverse drug response NOT_TRANSLATED +en Adversive status epilepticus HP:0032664 rdfs:label nl Adversive status epilepticus NOT_TRANSLATED +en Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause HP:0032893 IAO:0000115 nl Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause NOT_TRANSLATED +en Affected HP:0032320 rdfs:label nl Affected NOT_TRANSLATED +en Affecting all regions without specificity of distribution HP:0012837 IAO:0000115 nl Affecting all regions without specificity of distribution NOT_TRANSLATED +en Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context HP:0012003 IAO:0000115 nl Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context NOT_TRANSLATED +en Affective epileptic aura HP:0012003 rdfs:label nl Affectieve auras CANDIDATE +en Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context HP:0012002 IAO:0000115 nl Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context NOT_TRANSLATED +en Afibrinogenemia HP:0034287 rdfs:label nl Afibrinogenemia NOT_TRANSLATED +en After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory HP:0032937 IAO:0000115 nl After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory NOT_TRANSLATED +en Against the rule astigmatism HP:0031789 rdfs:label nl Against the rule astigmatism NOT_TRANSLATED +en Agalactia HP:0031109 rdfs:label nl Agalactie CANDIDATE +en Agammaglobulinemia HP:0004432 rdfs:label nl Agammaglobulinemie CANDIDATE +en Aganglionic megacolon HP:0002251 rdfs:label nl Agangliotisch megacolon CANDIDATE +en Aganglionosis of the small intestine HP:0011464 rdfs:label nl Aganglionose van de dunne darm CANDIDATE +en Age of death HP:0011420 rdfs:label nl Leeftijd van overlijden CANDIDATE +en Age-related cataract HP:0011141 rdfs:label nl Leeftijdsgebonden cataract CANDIDATE +en Age-related cortical cataract HP:0011143 rdfs:label nl Leeftijdsgebonden corticaal cataract CANDIDATE +en Age-related nuclear cataract HP:0011142 rdfs:label nl Leeftijdsgebonden nucleair cataract CANDIDATE +en Age-related posterior subcapsular cataract HP:0011144 rdfs:label nl Leeftijdsgebonden posterieur subcapsulair cataract CANDIDATE +en Aged leonine appearance HP:0008509 rdfs:label nl Aged leonine appearance NOT_TRANSLATED +en Agenesis of canine HP:0012738 rdfs:label nl Agenesie van hoektand CANDIDATE +en Agenesis of canine tooth HP:0012738 IAO:0000115 nl Agenesis of canine tooth NOT_TRANSLATED +en Agenesis of central incisor HP:0006289 rdfs:label nl Agenesie van centrale snijtand CANDIDATE +en Agenesis of cerebellar vermis HP:0002335 rdfs:label nl Agenesie van de vermis CANDIDATE +en Agenesis of corpus callosum HP:0001274 rdfs:label nl Agenesie van corpus callosum CANDIDATE +en Agenesis of either mandibular second permanent molar or maxillary second permanent molar HP:0011057 IAO:0000115 nl Agenesis of either mandibular second permanent molar or maxillary second permanent molar NOT_TRANSLATED +en Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both HP:0011056 IAO:0000115 nl Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both NOT_TRANSLATED +en Agenesis of first permanent molar tooth HP:0011056 rdfs:label nl Agenesie van eerste permanente molaire tand CANDIDATE +en Agenesis of incisor HP:0006485 IAO:0000115 nl Agenesis of incisor NOT_TRANSLATED +en Agenesis of incisor HP:0006485 rdfs:label nl Agenesie van snijtand CANDIDATE +en Agenesis of lateral incisor HP:0200153 rdfs:label nl Agenesie van laterale snijtand CANDIDATE +en Agenesis of lower primary incisor HP:0011047 IAO:0000115 nl Agenesis of lower primary incisor NOT_TRANSLATED +en Agenesis of lower secondary incisor HP:0011048 IAO:0000115 nl Agenesis of lower secondary incisor NOT_TRANSLATED +en Agenesis of lower secondary incisor or lower primary incisor HP:0006355 IAO:0000115 nl Agenesis of lower secondary incisor or lower primary incisor NOT_TRANSLATED +en Agenesis of mandibular central incisor HP:0006355 rdfs:label nl Agenesie van mandibulaire centrale snijtand CANDIDATE +en Agenesis of mandibular incisor HP:0200161 rdfs:label nl Agenesie van mandibulaire snijtand CANDIDATE +en Agenesis of mandibular lateral incisor HP:0200154 rdfs:label nl Agenesie van mandibulaire laterale snijtand CANDIDATE +en Agenesis of mandibular premolar HP:0011053 IAO:0000115 nl Agenesis of mandibular premolar NOT_TRANSLATED +en Agenesis of mandibular premolar HP:0011053 rdfs:label nl Agenesie van mandibulaire premolaar CANDIDATE +en Agenesis of maxillary central incisor HP:0006293 rdfs:label nl Agenesie van maxillaire centrale snijtand CANDIDATE +en Agenesis of maxillary incisor HP:0200160 rdfs:label nl Agenesie van maxillaire snijtand CANDIDATE +en Agenesis of maxillary lateral incisor HP:0000690 rdfs:label nl Agenesie van maxillaire laterale snijtand CANDIDATE +en Agenesis of maxillary premolar HP:0011052 IAO:0000115 nl Agenesis of maxillary premolar NOT_TRANSLATED +en Agenesis of maxillary premolar HP:0011052 rdfs:label nl Agenesie van maxillaire premolaar CANDIDATE +en Agenesis of molar HP:0011054 rdfs:label nl Agenesie van molaar CANDIDATE +en Agenesis of molar tooth HP:0011054 IAO:0000115 nl Agenesis of molar tooth NOT_TRANSLATED +en Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor HP:0006289 IAO:0000115 nl Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor NOT_TRANSLATED +en Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor HP:0011049 IAO:0000115 nl Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor NOT_TRANSLATED +en Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor HP:0000690 IAO:0000115 nl Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor NOT_TRANSLATED +en Agenesis of one or more upper lateral secondary incisor HP:0011050 IAO:0000115 nl Agenesis of one or more upper lateral secondary incisor NOT_TRANSLATED +en Agenesis of one or more vertebrae of the cervical vertebral column HP:0008459 IAO:0000115 nl Agenesis of one or more vertebrae of the cervical vertebral column NOT_TRANSLATED +en Agenesis of permanent mandibular central incisor HP:0011048 rdfs:label nl Agenesie van permanente mandibulaire centrale snijtand CANDIDATE +en Agenesis of permanent mandibular lateral incisor HP:0200158 rdfs:label nl Agenesie van permanente mandibulaire laterale snijtand CANDIDATE +en Agenesis of permanent maxillary central incisor HP:0011045 rdfs:label nl Agenesie van permanente maxillaire centrale snijtand CANDIDATE +en Agenesis of permanent maxillary lateral incisor HP:0011050 rdfs:label nl Agenesie van permanente maxillaire laterale snijtand CANDIDATE +en Agenesis of permanent molar HP:0011055 rdfs:label nl Agenesie van permanente molaar CANDIDATE +en Agenesis of permanent teeth HP:0006349 rdfs:label nl Agenesie van permanente tanden CANDIDATE +en Agenesis of pineal gland HP:0012687 rdfs:label nl Agenesie van epifyse CANDIDATE +en Agenesis of premolar HP:0011051 rdfs:label nl Agenesie van premolaar CANDIDATE +en Agenesis of premolar tooth HP:0011051 IAO:0000115 nl Agenesis of premolar tooth NOT_TRANSLATED +en Agenesis of primary mandibular central incisor HP:0011047 rdfs:label nl Agenesie van primaire mandibulaire centrale snijtand CANDIDATE +en Agenesis of primary mandibular lateral incisor HP:0200159 rdfs:label nl Agenesie van primaire mandibulaire laterale snijtand CANDIDATE +en Agenesis of primary maxillary central incisor HP:0011046 rdfs:label nl Agenesie van primaire maxillaire centrale snijtand CANDIDATE +en Agenesis of primary maxillary lateral incisor HP:0011049 rdfs:label nl Agenesie van primaire maxillaire laterale snijtand CANDIDATE +en Agenesis of pulmonary vessels HP:0005311 rdfs:label nl Agenesie van pulmonale vaten CANDIDATE +en Agenesis of putamen HP:0041052 rdfs:label nl Agenesis of putamen NOT_TRANSLATED +en Agenesis of second permanent molar HP:0011057 rdfs:label nl Agenesie van tweede permanente molaar CANDIDATE +en Agenesis of secondary molar tooth HP:0011055 IAO:0000115 nl Agenesis of secondary molar tooth NOT_TRANSLATED +en Agenesis of the anterior commissure HP:0030302 rdfs:label nl Agenesie van de voorste commissuur CANDIDATE +en Agenesis of the carotid canal HP:0031604 rdfs:label nl Agenesie van de canalis caroticus CANDIDATE +en Agenesis of the diaphragm HP:0008986 rdfs:label nl Agenesie van het diafragma CANDIDATE +en Agenesis of the midbrain HP:0007265 IAO:0000115 nl Agenesis of the midbrain NOT_TRANSLATED +en Agenesis of the small intestine HP:0012739 rdfs:label nl Agenesie van de dunne darm CANDIDATE +en Agenesis of upper central primary incisor HP:0011046 IAO:0000115 nl Agenesis of upper central primary incisor NOT_TRANSLATED +en Agenesis of upper secondary incisor HP:0011045 IAO:0000115 nl Agenesis of upper secondary incisor NOT_TRANSLATED +en Agenesis of upper secondary incisor or of upper central primary incisor HP:0006293 IAO:0000115 nl Agenesis of upper secondary incisor or of upper central primary incisor NOT_TRANSLATED +en Agenesis specifically affecting one of the classes incisor, premolar, or molar HP:0001592 IAO:0000115 nl Agenesis specifically affecting one of the classes incisor, premolar, or molar NOT_TRANSLATED +en Agenesis, that is, failure of the kidney to develop during embryogenesis and development HP:0000104 IAO:0000115 nl Agenesis, that is, failure of the kidney to develop during embryogenesis and development NOT_TRANSLATED +en Ageusia HP:0041051 rdfs:label nl Ageusia NOT_TRANSLATED +en Aggravated by HP:0025285 rdfs:label nl Verergerd door CANDIDATE +en Aggravated by acetylcholinesterase inhibitor HP:0032525 rdfs:label nl Aggravated by acetylcholinesterase inhibitor NOT_TRANSLATED +en Aggravated by activity HP:0025286 rdfs:label nl Verergerd door activiteit CANDIDATE +en Aggravated by phenytoin HP:4000132 rdfs:label nl Aggravated by phenytoin NOT_TRANSLATED +en Aggravated by sodium channel blocking agents HP:4000127 rdfs:label nl Aggravated by sodium channel blocking agents NOT_TRANSLATED +en Aggregates of stainable substances (proteins) in the nuclei of enteric neurons HP:0030938 IAO:0000115 nl Aggregates of stainable substances (proteins) in the nuclei of enteric neurons NOT_TRANSLATED +en Aggression towards oneself HP:0100716 IAO:0000115 nl Aggression towards oneself NOT_TRANSLATED +en Aggression towards others HP:5200125 rdfs:label nl Agressie naar anderen OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Aggressive behavior HP:0000718 rdfs:label nl Agressief gedrag CANDIDATE +en Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself HP:0000718 IAO:0000115 nl Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself NOT_TRANSLATED +en Agitation HP:0000713 rdfs:label nl Agitatie CANDIDATE +en Aglossia HP:0012730 rdfs:label nl Aglossie CANDIDATE +en Agnosia HP:0010524 rdfs:label nl Agnosie CANDIDATE +en Agonadism HP:0008633 rdfs:label nl Afwezig gonadaal weefsel CANDIDATE +en Agoraphobia HP:0000756 rdfs:label nl Agorafobie CANDIDATE +en Agranulocytosis HP:0012234 rdfs:label nl Agranulocytose CANDIDATE +en Agraphesthesia HP:0011812 rdfs:label nl Agrafesthesie CANDIDATE +en Agyria HP:0031882 rdfs:label nl Agyria NOT_TRANSLATED +en Ainhum HP:0031009 rdfs:label nl Ainhum CANDIDATE +en Air bronchogram HP:0033662 rdfs:label nl Air bronchogram NOT_TRANSLATED +en Air crescent HP:0033661 rdfs:label nl Air crescent NOT_TRANSLATED +en Air crescent sign HP:0032172 rdfs:label nl Air crescent sign NOT_TRANSLATED +en Air trapping HP:0033663 rdfs:label nl Air trapping NOT_TRANSLATED +en Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse HP:0033663 IAO:0000115 nl Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse NOT_TRANSLATED +en Airborn particle hypersensitivity HP:0032439 rdfs:label nl Airborn particle hypersensitivity NOT_TRANSLATED +en Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL HP:0033540 IAO:0000115 nl Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL NOT_TRANSLATED +en Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL HP:0033541 IAO:0000115 nl Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL NOT_TRANSLATED +en Airway casts HP:0025696 rdfs:label nl Airway casts NOT_TRANSLATED +en Airway hyperresponsiveness HP:0032933 rdfs:label nl Airway hyperresponsiveness NOT_TRANSLATED +en Airway obstruction HP:0006536 rdfs:label nl Obstructieve longziekte CANDIDATE +en Akathisia HP:0031943 rdfs:label nl Akathisia NOT_TRANSLATED +en Akinesia HP:0002304 rdfs:label nl Akinesie CANDIDATE +en Akinetic mutism HP:0012672 rdfs:label nl Akinetisch mutisme CANDIDATE +en Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking HP:0012672 IAO:0000115 nl Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking NOT_TRANSLATED +en Alacrima HP:0000522 rdfs:label nl Alacrima CANDIDATE +en Alaninuria HP:0020078 rdfs:label nl Alaninuria NOT_TRANSLATED +en Albinism HP:0001022 rdfs:label nl Albinisme CANDIDATE +en Albuminuria HP:0012592 rdfs:label nl Albuminurie CANDIDATE +en Alcohol-induced rhabdomyolysis HP:0011440 rdfs:label nl Door alcohol geïnduceerde rhabdomyolyse CANDIDATE +en Alcoholism HP:0030955 rdfs:label nl Alcoholisme CANDIDATE +en Aldehyde oxidase deficiency HP:0002932 rdfs:label nl Aldehyde oxidase deficiëntie CANDIDATE +en Alexia HP:0010523 rdfs:label nl Alexie CANDIDATE +en Alexithymia HP:0031433 rdfs:label nl Alexithymie CANDIDATE +en Alien limb phenomenon HP:0032506 rdfs:label nl Alien limb phenomenon NOT_TRANSLATED +en Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb HP:0032506 IAO:0000115 nl Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb NOT_TRANSLATED +en Alkalemia HP:0032369 rdfs:label nl Alkalemia NOT_TRANSLATED +en Alkaline phosphatase levels measured within leukocytes is below detectable levels HP:0008161 IAO:0000115 nl Alkaline phosphatase levels measured within leukocytes is below detectable levels NOT_TRANSLATED +en Alkaline urine HP:0032944 rdfs:label nl Alkaline urine NOT_TRANSLATED +en Alkalosis HP:0001948 rdfs:label nl Alkalose CANDIDATE +en Alkalosis due to excess loss of carbon dioxide from the body HP:0001950 IAO:0000115 nl Alkalosis due to excess loss of carbon dioxide from the body NOT_TRANSLATED +en All HP:0000001 rdfs:label nl Alle CANDIDATE +en All of the metacarpal bones of the hand have a pointed proximal appearance HP:0001223 IAO:0000115 nl All of the metacarpal bones of the hand have a pointed proximal appearance NOT_TRANSLATED +en Allantoic cyst HP:0030754 rdfs:label nl Allantoic cyst NOT_TRANSLATED +en Allergic Conjunctivitis is an allergic inflammation of the conjunctiva HP:0007879 IAO:0000115 nl Allergic Conjunctivitis is an allergic inflammation of the conjunctiva NOT_TRANSLATED +en Allergic conjunctivitis HP:0007879 rdfs:label nl Allergische conjunctivitis CANDIDATE +en Allergic rhinitis HP:0003193 rdfs:label nl Allergische rhinitis CANDIDATE +en Allergy HP:0012393 rdfs:label nl Allergie CANDIDATE +en Allergy to iodine contrast media used in radiological studies HP:0012394 IAO:0000115 nl Allergy to iodine contrast media used in radiological studies NOT_TRANSLATED +en Allodynia HP:0012533 rdfs:label nl Allodynie CANDIDATE +en Almond-shaped palpebral fissure HP:0007874 rdfs:label nl Amandelvormige ooglidspleet CANDIDATE +en Alobar holoprosencephaly HP:0006988 rdfs:label nl Alobaire holoprosencefalie CANDIDATE +en Alopecia HP:0001596 rdfs:label nl Alopecia CANDIDATE +en Alopecia of scalp HP:0002293 rdfs:label nl Alopecia van hoofdhuid CANDIDATE +en Alopecia totalis HP:0007418 rdfs:label nl Alopecia totalis CANDIDATE +en Alopecia universalis HP:0002289 rdfs:label nl Alopecia universalis CANDIDATE +en Alpha-EEG HP:0011178 rdfs:label nl Alfa-EEG CANDIDATE +en Alpha-aminoadipic aciduria HP:0410309 rdfs:label nl Alpha-aminoadipic aciduria NOT_TRANSLATED +en Alpha-aminobutyric aciduria HP:0025631 rdfs:label nl Alpha-aminobutyric aciduria NOT_TRANSLATED +en Alpha-gal allergy HP:0410319 rdfs:label nl Alpha-gal allergy NOT_TRANSLATED +en Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance HP:0006205 IAO:0000115 nl Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance NOT_TRANSLATED +en Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications HP:0002958 IAO:0000115 nl Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications NOT_TRANSLATED +en Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate HP:0031821 IAO:0000115 nl Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate NOT_TRANSLATED +en Alternating and recurrent weakness of the external ocular muscles HP:0007250 IAO:0000115 nl Alternating and recurrent weakness of the external ocular muscles NOT_TRANSLATED +en Alternating esotropia HP:0001137 rdfs:label nl Afwisselende esotropie CANDIDATE +en Alternating exotropia HP:0031717 rdfs:label nl Alternerende esotropie CANDIDATE +en Alternating hyperphoria HP:0500077 rdfs:label nl Alternating hyperphoria NOT_TRANSLATED +en Alternating hypertropia HP:0500076 rdfs:label nl Alternating hypertropia NOT_TRANSLATED +en Alternating hypophoria HP:0500079 rdfs:label nl Alternating hypophoria NOT_TRANSLATED +en Alternating hypotropia HP:0500078 rdfs:label nl Alternating hypotropia NOT_TRANSLATED +en Alternating laterality HP:4000152 rdfs:label nl Alternating laterality NOT_TRANSLATED +en Alternating radiolucent and radiodense metaphyseal lines HP:0031016 rdfs:label nl Alternating radiolucent and radiodense metaphyseal lines NOT_TRANSLATED +en Altitudinal visual field defect HP:0030531 rdfs:label nl Altitudinal visual field defect NOT_TRANSLATED +en Altman type I sacrococcygeal teratoma HP:0030737 rdfs:label nl Altman type 1 sacrococcygeaal teratoom CANDIDATE +en Altman type II sacrococcygeal teratoma HP:0030738 rdfs:label nl Altman type 2 sacrococcygeaal teratoom CANDIDATE +en Altman type III sacrococcygeal teratoma HP:0030739 rdfs:label nl Altman type 3 sacrococcygeal Teratoom CANDIDATE +en Alveolar bone loss around teeth HP:0410027 rdfs:label nl Alveolair botverlies rond tanden CANDIDATE +en Alveolar capillary dysplasia HP:0033208 rdfs:label nl Alveolar capillary dysplasia NOT_TRANSLATED +en Alveolar cell carcinoma HP:0006519 rdfs:label nl Alveolaire-celcarcinoom CANDIDATE +en Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine HP:0410003 IAO:0000115 nl Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine NOT_TRANSLATED +en Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles HP:0032984 IAO:0000115 nl Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles NOT_TRANSLATED +en Alveolar process hypoplasia HP:0006329 rdfs:label nl Processus alveolaris hypoplasie CANDIDATE +en Alveolar rhabdomyosarcoma HP:0006779 rdfs:label nl Alveolair rhabdomyosarcoom CANDIDATE +en Alveolar ridge overgrowth HP:0009085 rdfs:label nl Alveolar ridge overgrowth NOT_TRANSLATED +en Alveolar septal thickening HP:0033376 rdfs:label nl Alveolar septal thickening NOT_TRANSLATED +en Alveolar soft part sarcoma HP:0012218 rdfs:label nl Alveolaire zachte deel sarcoom CANDIDATE +en Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas HP:0033632 IAO:0000115 nl Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas NOT_TRANSLATED +en Always present, i.e. in 100% of the cases HP:0040280 IAO:0000115 nl Always present, i.e. in 100% of the cases NOT_TRANSLATED +en Alzheimer disease HP:0002511 rdfs:label nl De ziekte van Alzheimer CANDIDATE +en Amaurosis fugax HP:0100576 rdfs:label nl Amaurosis fugax CANDIDATE +en Ambiguous atrioventricular connection HP:0011552 rdfs:label nl Dubbelzinnige atrioventriculaire verbinding CANDIDATE +en Ambiguous genitalia HP:0000062 rdfs:label nl Tweeslachtige genitaliën CANDIDATE +en Ambiguous genitalia in an individual with XX genetic gender HP:0000061 IAO:0000115 nl Ambiguous genitalia in an individual with XX genetic gender NOT_TRANSLATED +en Ambiguous genitalia in an individual with XY genetic gender HP:0000033 IAO:0000115 nl Ambiguous genitalia in an individual with XY genetic gender NOT_TRANSLATED +en Ambiguous genitalia, female HP:0000061 rdfs:label nl Tweeslachtige genitaliën, vrouwelijke CANDIDATE +en Ambiguous genitalia, male HP:0000033 rdfs:label nl Tweeslachtige genitaliën, mannelijke CANDIDATE +en Amblyopia HP:0000646 rdfs:label nl Amblyopie CANDIDATE +en Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated HP:0025236 IAO:0000115 nl Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated NOT_TRANSLATED +en Amegakaryocytic thrombocytopenia HP:0004859 rdfs:label nl Amegakaryocytische trombocytopenische CANDIDATE +en Amelia HP:0009827 rdfs:label nl Amelie CANDIDATE +en Amelia involving the lower limbs HP:0009818 rdfs:label nl Amelie waarbij de onderste ledematen betrokken zijn CANDIDATE +en Amelia involving the upper limbs HP:0009812 rdfs:label nl Amelie waarbij de bovenste ledematen betrokken zijn CANDIDATE +en Amelia of all four limbs HP:0003057 IAO:0000115 nl Amelia of all four limbs NOT_TRANSLATED +en Amelia of one or both legs HP:0009818 IAO:0000115 nl Amelia of one or both legs NOT_TRANSLATED +en Amelia of one or both upper limbs HP:0009812 IAO:0000115 nl Amelia of one or both upper limbs NOT_TRANSLATED +en Ameliorated by HP:0025254 rdfs:label nl Verzacht door CANDIDATE +en Ameliorated by acetylcholinesterase inhibitor HP:0032526 rdfs:label nl Ameliorated by acetylcholinesterase inhibitor NOT_TRANSLATED +en Ameliorated by carbohydrate ingestion HP:0025257 rdfs:label nl Verzacht door koolhydraat inname CANDIDATE +en Ameliorated by colchicine HP:4000130 rdfs:label nl Ameliorated by colchicine NOT_TRANSLATED +en Ameliorated by ethanol ingestion HP:0032503 rdfs:label nl Ameliorated by ethanol ingestion NOT_TRANSLATED +en Ameliorated by heat HP:0025256 rdfs:label nl Verzacht door hitte CANDIDATE +en Ameliorated by immunosuppresion HP:0032522 rdfs:label nl Ameliorated by immunosuppresion NOT_TRANSLATED +en Ameliorated by ketogenic diet HP:0034516 rdfs:label nl Ameliorated by ketogenic diet NOT_TRANSLATED +en Ameliorated by lumbar puncture HP:0034459 rdfs:label nl Ameliorated by lumbar puncture NOT_TRANSLATED +en Ameliorated by oral zinc supplementation HP:4000103 rdfs:label nl Ameliorated by oral zinc supplementation NOT_TRANSLATED +en Ameliorated by pregnancy HP:0025255 rdfs:label nl Verzacht door zwangerschap CANDIDATE +en Ameliorated by ultraviolet light exposure HP:0034440 rdfs:label nl Ameliorated by ultraviolet light exposure NOT_TRANSLATED +en Ameliorated by vitamin D HP:4000131 rdfs:label nl Ameliorated by vitamin D NOT_TRANSLATED +en Amelioration of anemia upon treatment with a steroid medication HP:0033074 IAO:0000115 nl Amelioration of anemia upon treatment with a steroid medication NOT_TRANSLATED +en Ameloblastoma HP:0034515 rdfs:label nl Ameloblastoma NOT_TRANSLATED +en Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ HP:0034515 IAO:0000115 nl Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ NOT_TRANSLATED +en Amelogenesis imperfecta HP:0000705 rdfs:label nl Amelogenesis imperfecta CANDIDATE +en Amenorrhea HP:0000141 rdfs:label nl Amenorroe CANDIDATE +en Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea HP:0008209 IAO:0000115 nl Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea NOT_TRANSLATED +en Aminoaciduria HP:0003355 rdfs:label nl Aminoacidurie CANDIDATE +en Aminoglycoside exposure HP:4000113 rdfs:label nl Aminoglycoside exposure NOT_TRANSLATED +en Aminoglycoside-induced hearing loss HP:0011975 rdfs:label nl Aminoglycoside-geïnduceerd gehoorverlies CANDIDATE +en Amniotic Sheet HP:0030763 rdfs:label nl Amniotic Sheet NOT_TRANSLATED +en Amniotic constriction ring HP:0009775 rdfs:label nl Amniotic constriction ring NOT_TRANSLATED +en Amniotic constriction rings affecting the arms HP:0010483 IAO:0000115 nl Amniotic constriction rings affecting the arms NOT_TRANSLATED +en Amniotic constriction rings affecting the legs HP:0010495 IAO:0000115 nl Amniotic constriction rings affecting the legs NOT_TRANSLATED +en Amniotic constriction rings of arms HP:0010483 rdfs:label nl Amniotic constriction rings of arms NOT_TRANSLATED +en Amniotic constriction rings of legs HP:0010495 rdfs:label nl Amniotic constriction rings of legs NOT_TRANSLATED +en Amniotic fluid containing the earliest stools of a mammalian infant HP:0012420 IAO:0000115 nl Amniotic fluid containing the earliest stools of a mammalian infant NOT_TRANSLATED +en Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy HP:0033887 IAO:0000115 nl Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED +en Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy HP:0033966 IAO:0000115 nl Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED +en Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy HP:0033900 IAO:0000115 nl Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED +en Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy HP:0033914 IAO:0000115 nl Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED +en Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy HP:0033882 IAO:0000115 nl Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy NOT_TRANSLATED +en Amphetamine addiction HP:0033514 rdfs:label nl Amphetamine addiction NOT_TRANSLATED +en Ampulla of Vater carcinoma HP:0031524 rdfs:label nl Papil van Vater carcinoom CANDIDATE +en Amyelia HP:0100566 rdfs:label nl Amyelie CANDIDATE +en Amygdala microinfarct HP:0033988 rdfs:label nl Amygdala microinfarct NOT_TRANSLATED +en Amyloid deposition in the vitreous humor HP:0007841 rdfs:label nl Amyloïd depositie in glasachtig lichaam CANDIDATE +en Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system HP:0011970 IAO:0000115 nl Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system NOT_TRANSLATED +en Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries HP:0032614 IAO:0000115 nl Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries NOT_TRANSLATED +en Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains HP:0033494 IAO:0000115 nl Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains NOT_TRANSLATED +en Amyloidosis HP:0011034 rdfs:label nl Amyloidose CANDIDATE +en Amyloidosis of peripheral nerves HP:0100292 rdfs:label nl Amyloidose van de perifere zenuwen CANDIDATE +en Amyoplasia HP:0003634 rdfs:label nl Amyoplasie CANDIDATE +en Amyotrophic lateral sclerosis HP:0007354 rdfs:label nl Amyotrofische laterale sclerose CANDIDATE +en Amyotrophy (muscular atrophy) affecting the proximal musculature HP:0007126 IAO:0000115 nl Amyotrophy (muscular atrophy) affecting the proximal musculature NOT_TRANSLATED +en Amyotrophy affecting the muscles of the shoulder girdle HP:0003724 IAO:0000115 nl Amyotrophy affecting the muscles of the shoulder girdle NOT_TRANSLATED +en Amyotrophy involving the shoulder musculature HP:0001465 rdfs:label nl Amyotrofie waarbij de schoudermusculatuur betrokken is CANDIDATE +en Amyotrophy of ankle musculature HP:0009031 rdfs:label nl Amyotrofie van enkel musculatuur CANDIDATE +en Amyotrophy of the musculature of the pelvis HP:0003665 rdfs:label nl Amyotrofie van de bekkenmusculatuur CANDIDATE +en An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones HP:0100039 IAO:0000115 nl An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones NOT_TRANSLATED +en An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic HP:0011176 IAO:0000115 nl An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic NOT_TRANSLATED +en An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric) HP:0031711 IAO:0000115 nl An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric) NOT_TRANSLATED +en An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound HP:0004872 IAO:0000115 nl An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound NOT_TRANSLATED +en An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst HP:0012886 IAO:0000115 nl An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst NOT_TRANSLATED +en An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst HP:0030733 IAO:0000115 nl An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst NOT_TRANSLATED +en An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye HP:0200057 IAO:0000115 nl An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye NOT_TRANSLATED +en An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend HP:0100029 IAO:0000115 nl An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend NOT_TRANSLATED +en An aberrant, pathological communication between the colon and the bladder HP:0034255 IAO:0000115 nl An aberrant, pathological communication between the colon and the bladder NOT_TRANSLATED +en An aberrant, pathological communication between the rectum and the bladder HP:0034451 IAO:0000115 nl An aberrant, pathological communication between the rectum and the bladder NOT_TRANSLATED +en An ability of the toe joints to move beyond their normal range of motion HP:0010510 IAO:0000115 nl An ability of the toe joints to move beyond their normal range of motion NOT_TRANSLATED +en An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent HP:0034313 IAO:0000115 nl An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent NOT_TRANSLATED +en An abnormal (non-anatomic) location of the spleen HP:0010452 IAO:0000115 nl An abnormal (non-anatomic) location of the spleen NOT_TRANSLATED +en An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells HP:0020194 IAO:0000115 nl An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED +en An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells HP:0020195 IAO:0000115 nl An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED +en An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells HP:0020196 IAO:0000115 nl An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED +en An abnormal accentuation of the inward curvature of the spine in the lumbar region HP:0002938 IAO:0000115 nl An abnormal accentuation of the inward curvature of the spine in the lumbar region NOT_TRANSLATED +en An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg HP:0010741 IAO:0000115 nl An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg NOT_TRANSLATED +en An abnormal accumulation of fluid and swelling in the tissues of the larynx HP:0012027 IAO:0000115 nl An abnormal accumulation of fluid and swelling in the tissues of the larynx NOT_TRANSLATED +en An abnormal accumulation of fluid and swelling in the tongue HP:0040315 IAO:0000115 nl An abnormal accumulation of fluid and swelling in the tongue NOT_TRANSLATED +en An abnormal accumulation of fluid beneath the skin of the arms HP:0010742 IAO:0000115 nl An abnormal accumulation of fluid beneath the skin of the arms NOT_TRANSLATED +en An abnormal accumulation of fluid beneath the skin on sole of the foot HP:0025537 IAO:0000115 nl An abnormal accumulation of fluid beneath the skin on sole of the foot NOT_TRANSLATED +en An abnormal accumulation of fluid beneath the skin on the back of the feet HP:0012098 IAO:0000115 nl An abnormal accumulation of fluid beneath the skin on the back of the feet NOT_TRANSLATED +en An abnormal accumulation of fluid beneath the skin on the back of the hands HP:0007514 IAO:0000115 nl An abnormal accumulation of fluid beneath the skin on the back of the hands NOT_TRANSLATED +en An abnormal accumulation of fluid beneath the skin on the palm of the hand HP:0025538 IAO:0000115 nl An abnormal accumulation of fluid beneath the skin on the palm of the hand NOT_TRANSLATED +en An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body HP:0000969 IAO:0000115 nl An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body NOT_TRANSLATED +en An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia) HP:0007609 IAO:0000115 nl An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia) NOT_TRANSLATED +en An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms HP:0025671 IAO:0000115 nl An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms NOT_TRANSLATED +en An abnormal accumulation of interstitial fluid in the soft tissues of the limbs HP:0012398 IAO:0000115 nl An abnormal accumulation of interstitial fluid in the soft tissues of the limbs NOT_TRANSLATED +en An abnormal accumulation of lipids in skeletal muscle HP:0009058 IAO:0000115 nl An abnormal accumulation of lipids in skeletal muscle NOT_TRANSLATED +en An abnormal accumulation of protein in the glomerulus HP:0030949 IAO:0000115 nl An abnormal accumulation of protein in the glomerulus NOT_TRANSLATED +en An abnormal amount of acylcarnitine in the urine HP:0500170 IAO:0000115 nl An abnormal amount of acylcarnitine in the urine NOT_TRANSLATED +en An abnormal amount of any of the interleukins, a class of cytokines, in the circulation HP:0030782 IAO:0000115 nl An abnormal amount of any of the interleukins, a class of cytokines, in the circulation NOT_TRANSLATED +en An abnormal amount of hair HP:0011362 IAO:0000115 nl An abnormal amount of hair NOT_TRANSLATED +en An abnormal amount of hydrogencarbonate in the urine HP:0011279 IAO:0000115 nl An abnormal amount of hydrogencarbonate in the urine NOT_TRANSLATED +en An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs HP:0045049 IAO:0000115 nl An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs NOT_TRANSLATED +en An abnormal amount of urinary catecholamine concentration HP:0011281 IAO:0000115 nl An abnormal amount of urinary catecholamine concentration NOT_TRANSLATED +en An abnormal amount of urine production HP:0012590 IAO:0000115 nl An abnormal amount of urine production NOT_TRANSLATED +en An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina HP:0025007 IAO:0000115 nl An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina NOT_TRANSLATED +en An abnormal anatomical location of the parathyroid gland HP:0011769 IAO:0000115 nl An abnormal anatomical location of the parathyroid gland NOT_TRANSLATED +en An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis HP:0011755 IAO:0000115 nl An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis NOT_TRANSLATED +en An abnormal anterior bending or curvature of the tibia HP:0006390 IAO:0000115 nl An abnormal anterior bending or curvature of the tibia NOT_TRANSLATED +en An abnormal anterior curvature of a long bone HP:0006473 IAO:0000115 nl An abnormal anterior curvature of a long bone NOT_TRANSLATED +en An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure HP:0011095 IAO:0000115 nl An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure NOT_TRANSLATED +en An abnormal anteroposterior thickness of the cornea HP:0011486 IAO:0000115 nl An abnormal anteroposterior thickness of the cornea NOT_TRANSLATED +en An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding HP:0045055 IAO:0000115 nl An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding NOT_TRANSLATED +en An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm HP:0003200 IAO:0000115 nl An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm NOT_TRANSLATED +en An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber HP:0031616 IAO:0000115 nl An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber NOT_TRANSLATED +en An abnormal appearance of the liver or any of its components on sonography (ultrasound) HP:0031140 IAO:0000115 nl An abnormal appearance of the liver or any of its components on sonography (ultrasound) NOT_TRANSLATED +en An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses HP:0000947 IAO:0000115 nl An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses NOT_TRANSLATED +en An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth HP:0002419 IAO:0000115 nl An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth NOT_TRANSLATED +en An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple HP:0032314 IAO:0000115 nl An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple NOT_TRANSLATED +en An abnormal area of increased brightness (hyperintensity) that is limited to one particular area HP:0040328 IAO:0000115 nl An abnormal area of increased brightness (hyperintensity) that is limited to one particular area NOT_TRANSLATED +en An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas HP:0040329 IAO:0000115 nl An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas NOT_TRANSLATED +en An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing) HP:0008796 IAO:0000115 nl An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing) NOT_TRANSLATED +en An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm HP:0020142 IAO:0000115 nl An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm NOT_TRANSLATED +en An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm HP:0020141 IAO:0000115 nl An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm NOT_TRANSLATED +en An abnormal blue color of the urine HP:0040317 IAO:0000115 nl An abnormal blue color of the urine NOT_TRANSLATED +en An abnormal bluish coloration of the sclera HP:0000592 IAO:0000115 nl An abnormal bluish coloration of the sclera NOT_TRANSLATED +en An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles HP:0032000 IAO:0000115 nl An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles NOT_TRANSLATED +en An abnormal build up of iron (Fe) in brain tissue HP:0012675 IAO:0000115 nl An abnormal build up of iron (Fe) in brain tissue NOT_TRANSLATED +en An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids HP:0003128 IAO:0000115 nl An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids NOT_TRANSLATED +en An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer HP:0032404 IAO:0000115 nl An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer NOT_TRANSLATED +en An abnormal catecholamine concentration in the blood HP:0012099 IAO:0000115 nl An abnormal catecholamine concentration in the blood NOT_TRANSLATED +en An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system HP:0100580 IAO:0000115 nl An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system NOT_TRANSLATED +en An abnormal closure, or atresia of the tubular structure of the ileum HP:0011102 IAO:0000115 nl An abnormal closure, or atresia of the tubular structure of the ileum NOT_TRANSLATED +en An abnormal closure, or atresia of the tubular structure of the intestine HP:0011100 IAO:0000115 nl An abnormal closure, or atresia of the tubular structure of the intestine NOT_TRANSLATED +en An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color HP:0012086 IAO:0000115 nl An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color NOT_TRANSLATED +en An abnormal communication between coronary artery and a cardiac chamber HP:0031560 IAO:0000115 nl An abnormal communication between coronary artery and a cardiac chamber NOT_TRANSLATED +en An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation HP:0031563 IAO:0000115 nl An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation NOT_TRANSLATED +en An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle HP:0031561 IAO:0000115 nl An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle NOT_TRANSLATED +en An abnormal concentration of 5-methyltetrahydrofolate in the blood HP:0410216 IAO:0000115 nl An abnormal concentration of 5-methyltetrahydrofolate in the blood NOT_TRANSLATED +en An abnormal concentration of a hormone in the blood HP:0003117 IAO:0000115 nl An abnormal concentration of a hormone in the blood NOT_TRANSLATED +en An abnormal concentration of a hormone in the urine HP:0012029 IAO:0000115 nl An abnormal concentration of a hormone in the urine NOT_TRANSLATED +en An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate HP:0012400 IAO:0000115 nl An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate NOT_TRANSLATED +en An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm) HP:0032418 IAO:0000115 nl An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm) NOT_TRANSLATED +en An abnormal concentration of chloride in the urine HP:0012600 IAO:0000115 nl An abnormal concentration of chloride in the urine NOT_TRANSLATED +en An abnormal concentration of complex N-glycans on glycoproteins HP:0410351 IAO:0000115 nl An abnormal concentration of complex N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal concentration of copper HP:0010836 IAO:0000115 nl An abnormal concentration of copper NOT_TRANSLATED +en An abnormal concentration of corticotropin in the blood HP:0011043 IAO:0000115 nl An abnormal concentration of corticotropin in the blood NOT_TRANSLATED +en An abnormal concentration of creatinine in the blood HP:0012100 IAO:0000115 nl An abnormal concentration of creatinine in the blood NOT_TRANSLATED +en An abnormal concentration of gastrin in the blood HP:0500166 IAO:0000115 nl An abnormal concentration of gastrin in the blood NOT_TRANSLATED +en An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode HP:0032179 IAO:0000115 nl An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode NOT_TRANSLATED +en An abnormal concentration of high-mannose N-glycans on glycoproteins HP:0410356 IAO:0000115 nl An abnormal concentration of high-mannose N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal concentration of insulin in the body HP:0040214 IAO:0000115 nl An abnormal concentration of insulin in the body NOT_TRANSLATED +en An abnormal concentration of leptin in the blood HP:0004361 IAO:0000115 nl An abnormal concentration of leptin in the blood NOT_TRANSLATED +en An abnormal concentration of magnesium the urine HP:0012607 IAO:0000115 nl An abnormal concentration of magnesium the urine NOT_TRANSLATED +en An abnormal concentration of potassium HP:0011042 IAO:0000115 nl An abnormal concentration of potassium NOT_TRANSLATED +en An abnormal concentration of potassium(1+) in the urine HP:0012598 IAO:0000115 nl An abnormal concentration of potassium(1+) in the urine NOT_TRANSLATED +en An abnormal concentration of sodium HP:0010931 IAO:0000115 nl An abnormal concentration of sodium NOT_TRANSLATED +en An abnormal concentration of sodium in the urine HP:0012603 IAO:0000115 nl An abnormal concentration of sodium in the urine NOT_TRANSLATED +en An abnormal concentration of urobilinogen in the urine HP:0032472 IAO:0000115 nl An abnormal concentration of urobilinogen in the urine NOT_TRANSLATED +en An abnormal concentration of vitamin B6 in the blood circulation HP:0032476 IAO:0000115 nl An abnormal concentration of vitamin B6 in the blood circulation NOT_TRANSLATED +en An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium HP:0025640 IAO:0000115 nl An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium NOT_TRANSLATED +en An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view HP:0000232 IAO:0000115 nl An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view NOT_TRANSLATED +en An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis HP:0006384 IAO:0000115 nl An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis NOT_TRANSLATED +en An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis HP:0006406 IAO:0000115 nl An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis NOT_TRANSLATED +en An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally HP:0000698 IAO:0000115 nl An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally NOT_TRANSLATED +en An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both HP:0011083 IAO:0000115 nl An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both NOT_TRANSLATED +en An abnormal conical morphology of the incisor tooth HP:0011065 IAO:0000115 nl An abnormal conical morphology of the incisor tooth NOT_TRANSLATED +en An abnormal conical morphology of the primary incisor HP:0011082 IAO:0000115 nl An abnormal conical morphology of the primary incisor NOT_TRANSLATED +en An abnormal conical morphology of the primary or permanent mandibular incisors HP:0006339 IAO:0000115 nl An abnormal conical morphology of the primary or permanent mandibular incisors NOT_TRANSLATED +en An abnormal connection (fistula) between the esophagus and the trachea HP:0002575 IAO:0000115 nl An abnormal connection (fistula) between the esophagus and the trachea NOT_TRANSLATED +en An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin HP:0033279 IAO:0000115 nl An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin NOT_TRANSLATED +en An abnormal connection (fistula) between the rectum and the ureter HP:0034452 IAO:0000115 nl An abnormal connection (fistula) between the rectum and the ureter NOT_TRANSLATED +en An abnormal connection (fistula) between the rectum and the urethra HP:0025407 IAO:0000115 nl An abnormal connection (fistula) between the rectum and the urethra NOT_TRANSLATED +en An abnormal connection between a carotid artery and the cavernous sinus HP:0031157 IAO:0000115 nl An abnormal connection between a carotid artery and the cavernous sinus NOT_TRANSLATED +en An abnormal connection between an artery and vein HP:0004947 IAO:0000115 nl An abnormal connection between an artery and vein NOT_TRANSLATED +en An abnormal connection between the epithelialised surface of the anal canal and the perianal skin HP:0010447 IAO:0000115 nl An abnormal connection between the epithelialised surface of the anal canal and the perianal skin NOT_TRANSLATED +en An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract HP:0100819 IAO:0000115 nl An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract NOT_TRANSLATED +en An abnormal count or structure of eosinophils HP:0001879 IAO:0000115 nl An abnormal count or structure of eosinophils NOT_TRANSLATED +en An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane HP:0002751 IAO:0000115 nl An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane NOT_TRANSLATED +en An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle HP:0030975 IAO:0000115 nl An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle NOT_TRANSLATED +en An abnormal dark color of the urine HP:0040319 IAO:0000115 nl An abnormal dark color of the urine NOT_TRANSLATED +en An abnormal dark-yellow color of the urine HP:0040321 IAO:0000115 nl An abnormal dark-yellow color of the urine NOT_TRANSLATED +en An abnormal decrease from the normal count of B cells HP:0010976 IAO:0000115 nl An abnormal decrease from the normal count of B cells NOT_TRANSLATED +en An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level HP:0410349 IAO:0000115 nl An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level NOT_TRANSLATED +en An abnormal decrease in ornithine in the blood HP:0500163 IAO:0000115 nl An abnormal decrease in ornithine in the blood NOT_TRANSLATED +en An abnormal decrease in orotidine 5'-phosphate decarboxylase level HP:0003267 IAO:0000115 nl An abnormal decrease in orotidine 5'-phosphate decarboxylase level NOT_TRANSLATED +en An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation HP:0032193 IAO:0000115 nl An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation NOT_TRANSLATED +en An abnormal decrease in the concentration of complex N-glycans on glycoproteins HP:0410353 IAO:0000115 nl An abnormal decrease in the concentration of complex N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins HP:0410361 IAO:0000115 nl An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins NOT_TRANSLATED +en An abnormal decrease in the concentration of heparan sulfate in the blood HP:0410343 IAO:0000115 nl An abnormal decrease in the concentration of heparan sulfate in the blood NOT_TRANSLATED +en An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins HP:0410358 IAO:0000115 nl An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins HP:0410364 IAO:0000115 nl An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins NOT_TRANSLATED +en An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins HP:0410355 IAO:0000115 nl An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal decrease in the level of lipoprotein cholesterol in the blood HP:0010981 IAO:0000115 nl An abnormal decrease in the level of lipoprotein cholesterol in the blood NOT_TRANSLATED +en An abnormal decrease in the size of nasopharyngeal adenoids HP:0040260 IAO:0000115 nl An abnormal decrease in the size of nasopharyngeal adenoids NOT_TRANSLATED +en An abnormal decrease of the C-reactive protein level in serum HP:0032437 IAO:0000115 nl An abnormal decrease of the C-reactive protein level in serum NOT_TRANSLATED +en An abnormal decrease of the pressure within the eye HP:0032547 IAO:0000115 nl An abnormal decrease of the pressure within the eye NOT_TRANSLATED +en An abnormal decreased number of leukocytes in the blood HP:0001882 IAO:0000115 nl An abnormal decreased number of leukocytes in the blood NOT_TRANSLATED +en An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae) HP:0010649 IAO:0000115 nl An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae) NOT_TRANSLATED +en An abnormal deviation from normal levels of IgA immunoglobulin in blood HP:0410240 IAO:0000115 nl An abnormal deviation from normal levels of IgA immunoglobulin in blood NOT_TRANSLATED +en An abnormal deviation from normal levels of IgD immunoglobulin in blood HP:0410244 IAO:0000115 nl An abnormal deviation from normal levels of IgD immunoglobulin in blood NOT_TRANSLATED +en An abnormal deviation from normal levels of IgE immunoglobulin in blood HP:0410241 IAO:0000115 nl An abnormal deviation from normal levels of IgE immunoglobulin in blood NOT_TRANSLATED +en An abnormal deviation from normal levels of IgG immunoglobulin in blood HP:0410242 IAO:0000115 nl An abnormal deviation from normal levels of IgG immunoglobulin in blood NOT_TRANSLATED +en An abnormal deviation from normal levels of IgM immunoglobulin in blood HP:0410243 IAO:0000115 nl An abnormal deviation from normal levels of IgM immunoglobulin in blood NOT_TRANSLATED +en An abnormal deviation from normal levels of immunoglobulins in blood HP:0010701 IAO:0000115 nl An abnormal deviation from normal levels of immunoglobulins in blood NOT_TRANSLATED +en An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous HP:0041076 IAO:0000115 nl An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous NOT_TRANSLATED +en An abnormal difference between the left and right sides of the face HP:0000324 IAO:0000115 nl An abnormal difference between the left and right sides of the face NOT_TRANSLATED +en An abnormal dilatation of lymph vessels in the pericardium HP:0005183 IAO:0000115 nl An abnormal dilatation of lymph vessels in the pericardium NOT_TRANSLATED +en An abnormal dilatation of the fourth cerebral ventricle HP:0002198 IAO:0000115 nl An abnormal dilatation of the fourth cerebral ventricle NOT_TRANSLATED +en An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum HP:0025024 IAO:0000115 nl An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum NOT_TRANSLATED +en An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells HP:0031410 IAO:0000115 nl An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells NOT_TRANSLATED +en An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution HP:0012073 IAO:0000115 nl An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution NOT_TRANSLATED +en An abnormal distribution of eyebrow hair growth in the medial direction HP:0010747 IAO:0000115 nl An abnormal distribution of eyebrow hair growth in the medial direction NOT_TRANSLATED +en An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type HP:0033685 IAO:0000115 nl An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type NOT_TRANSLATED +en An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background) HP:0031145 IAO:0000115 nl An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background) NOT_TRANSLATED +en An abnormal elevation above normal hemoglobin concentration in the circulation HP:0020063 IAO:0000115 nl An abnormal elevation above normal hemoglobin concentration in the circulation NOT_TRANSLATED +en An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation HP:0032306 IAO:0000115 nl An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation NOT_TRANSLATED +en An abnormal elevation above the normal number of red blood cells per volume in the circulation HP:0020059 IAO:0000115 nl An abnormal elevation above the normal number of red blood cells per volume in the circulation NOT_TRANSLATED +en An abnormal elevation in alveolar volume HP:0033634 IAO:0000115 nl An abnormal elevation in alveolar volume NOT_TRANSLATED +en An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland HP:0012686 IAO:0000115 nl An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland NOT_TRANSLATED +en An abnormal elevation of phytanic acid HP:0010571 IAO:0000115 nl An abnormal elevation of phytanic acid NOT_TRANSLATED +en An abnormal elevation of the C-reactive protein level in the blood circulation HP:0011227 IAO:0000115 nl An abnormal elevation of the C-reactive protein level in the blood circulation NOT_TRANSLATED +en An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones HP:0025484 IAO:0000115 nl An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones NOT_TRANSLATED +en An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells HP:0033221 IAO:0000115 nl An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells NOT_TRANSLATED +en An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials HP:0001312 IAO:0000115 nl An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials NOT_TRANSLATED +en An abnormal enlargement of the distal epiphysis of the femur HP:0006438 IAO:0000115 nl An abnormal enlargement of the distal epiphysis of the femur NOT_TRANSLATED +en An abnormal enlargement of the proximal epiphysis of the femur HP:0003371 IAO:0000115 nl An abnormal enlargement of the proximal epiphysis of the femur NOT_TRANSLATED +en An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine HP:0100581 IAO:0000115 nl An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine NOT_TRANSLATED +en An abnormal enlargement of the sella turcica HP:0002690 IAO:0000115 nl An abnormal enlargement of the sella turcica NOT_TRANSLATED +en An abnormal enlargement or swelling in the abdomen HP:0031500 IAO:0000115 nl An abnormal enlargement or swelling in the abdomen NOT_TRANSLATED +en An abnormal enlargement or swelling in the pelvic region HP:0031501 IAO:0000115 nl An abnormal enlargement or swelling in the pelvic region NOT_TRANSLATED +en An abnormal fear of being in a closed or narrow space with no escape HP:0025253 IAO:0000115 nl An abnormal fear of being in a closed or narrow space with no escape NOT_TRANSLATED +en An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) HP:0033580 IAO:0000115 nl An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV) NOT_TRANSLATED +en An abnormal flattening of an epiphysis of femur HP:0030289 IAO:0000115 nl An abnormal flattening of an epiphysis of femur NOT_TRANSLATED +en An abnormal flattening of the distal epiphysis of femur HP:0006398 IAO:0000115 nl An abnormal flattening of the distal epiphysis of femur NOT_TRANSLATED +en An abnormal flattening of the proximal epiphysis of the femur HP:0003370 IAO:0000115 nl An abnormal flattening of the proximal epiphysis of the femur NOT_TRANSLATED +en An abnormal form or location of a pulmonary fissure HP:0032992 IAO:0000115 nl An abnormal form or location of a pulmonary fissure NOT_TRANSLATED +en An abnormal form or number of the pulmonary fissures HP:0032991 IAO:0000115 nl An abnormal form or number of the pulmonary fissures NOT_TRANSLATED +en An abnormal form or size of neutrophils HP:0011992 IAO:0000115 nl An abnormal form or size of neutrophils NOT_TRANSLATED +en An abnormal form or size of neutrophils in the cerebrospinal fluid HP:0410310 IAO:0000115 nl An abnormal form or size of neutrophils in the cerebrospinal fluid NOT_TRANSLATED +en An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders HP:0100595 IAO:0000115 nl An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders NOT_TRANSLATED +en An abnormal functionality of the genital system HP:0000080 IAO:0000115 nl An abnormal functionality of the genital system NOT_TRANSLATED +en An abnormal functionality of the hypothalamus HP:0012285 IAO:0000115 nl An abnormal functionality of the hypothalamus NOT_TRANSLATED +en An abnormal functionality of the kidney HP:0012211 IAO:0000115 nl An abnormal functionality of the kidney NOT_TRANSLATED +en An abnormal functionality of the male genital system HP:0012874 IAO:0000115 nl An abnormal functionality of the male genital system NOT_TRANSLATED +en An abnormal functionality of the thyroid gland HP:0002926 IAO:0000115 nl An abnormal functionality of the thyroid gland NOT_TRANSLATED +en An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation HP:0010977 IAO:0000115 nl An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation NOT_TRANSLATED +en An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward HP:0031856 IAO:0000115 nl An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward NOT_TRANSLATED +en An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait HP:0030051 IAO:0000115 nl An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait NOT_TRANSLATED +en An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia HP:0002136 IAO:0000115 nl An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia NOT_TRANSLATED +en An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again HP:0003376 IAO:0000115 nl An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again NOT_TRANSLATED +en An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0010854 IAO:0000115 nl An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en An abnormal green color of urine HP:0032003 IAO:0000115 nl An abnormal green color of urine NOT_TRANSLATED +en An abnormal groove on the midline of the nose that may extend to the nasal tip HP:0004112 IAO:0000115 nl An abnormal groove on the midline of the nose that may extend to the nasal tip NOT_TRANSLATED +en An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more HP:0034240 IAO:0000115 nl An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more NOT_TRANSLATED +en An abnormal growth (lump) of tissue that projects from the fetal scalp HP:0034246 IAO:0000115 nl An abnormal growth (lump) of tissue that projects from the fetal scalp NOT_TRANSLATED +en An abnormal growth of parafollicular (C-cells) cells HP:0011781 IAO:0000115 nl An abnormal growth of parafollicular (C-cells) cells NOT_TRANSLATED +en An abnormal growth that projects from the mucous membrane of the urinary bladder HP:0031261 IAO:0000115 nl An abnormal growth that projects from the mucous membrane of the urinary bladder NOT_TRANSLATED +en An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation HP:0032398 IAO:0000115 nl An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation NOT_TRANSLATED +en An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria HP:0032400 IAO:0000115 nl An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria NOT_TRANSLATED +en An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex HP:0032399 IAO:0000115 nl An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex NOT_TRANSLATED +en An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair) HP:0010721 IAO:0000115 nl An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair) NOT_TRANSLATED +en An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm HP:0001178 IAO:0000115 nl An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm NOT_TRANSLATED +en An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted HP:0001188 IAO:0000115 nl An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted NOT_TRANSLATED +en An abnormal high amount of bleeding following the procedure of taking a blood sample HP:0030139 IAO:0000115 nl An abnormal high amount of bleeding following the procedure of taking a blood sample NOT_TRANSLATED +en An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat HP:0006511 IAO:0000115 nl An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat NOT_TRANSLATED +en An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly HP:0009897 IAO:0000115 nl An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly NOT_TRANSLATED +en An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells HP:0031050 IAO:0000115 nl An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED +en An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells HP:0031049 IAO:0000115 nl An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED +en An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells HP:0031048 IAO:0000115 nl An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED +en An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells HP:0031047 IAO:0000115 nl An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells NOT_TRANSLATED +en An abnormal in the concentration of core 1 O-glycans on glycoproteins HP:0410359 IAO:0000115 nl An abnormal in the concentration of core 1 O-glycans on glycoproteins NOT_TRANSLATED +en An abnormal increase from the normal count of B cells HP:0005404 IAO:0000115 nl An abnormal increase from the normal count of B cells NOT_TRANSLATED +en An abnormal increase in catecholamine concentration in the blood HP:0003334 IAO:0000115 nl An abnormal increase in catecholamine concentration in the blood NOT_TRANSLATED +en An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images HP:0012240 IAO:0000115 nl An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images NOT_TRANSLATED +en An abnormal increase in magnitude of the pressure in the left atrium HP:0031299 IAO:0000115 nl An abnormal increase in magnitude of the pressure in the left atrium NOT_TRANSLATED +en An abnormal increase in magnitude of the pressure in the right atrium HP:0005168 IAO:0000115 nl An abnormal increase in magnitude of the pressure in the right atrium NOT_TRANSLATED +en An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension HP:0030950 IAO:0000115 nl An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension NOT_TRANSLATED +en An abnormal increase in quantity or strength of fetal movements HP:0010519 IAO:0000115 nl An abnormal increase in quantity or strength of fetal movements NOT_TRANSLATED +en An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record HP:0031155 IAO:0000115 nl An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record NOT_TRANSLATED +en An abnormal increase in the amount of intraabdominal fat tissue HP:0008993 IAO:0000115 nl An abnormal increase in the amount of intraabdominal fat tissue NOT_TRANSLATED +en An abnormal increase in the amount of intracellular lipid droplets in hepatocytes HP:0006565 IAO:0000115 nl An abnormal increase in the amount of intracellular lipid droplets in hepatocytes NOT_TRANSLATED +en An abnormal increase in the amount of intramuscular fat tissue HP:0008985 IAO:0000115 nl An abnormal increase in the amount of intramuscular fat tissue NOT_TRANSLATED +en An abnormal increase in the amount of subcutaneous fat in the legs HP:0031451 IAO:0000115 nl An abnormal increase in the amount of subcutaneous fat in the legs NOT_TRANSLATED +en An abnormal increase in the average blood pressure in an individual during a single cardiac cycle HP:0004972 IAO:0000115 nl An abnormal increase in the average blood pressure in an individual during a single cardiac cycle NOT_TRANSLATED +en An abnormal increase in the binding affinity of hemoglobin for oxygen HP:0004825 IAO:0000115 nl An abnormal increase in the binding affinity of hemoglobin for oxygen NOT_TRANSLATED +en An abnormal increase in the bone density of the long bones HP:0006392 IAO:0000115 nl An abnormal increase in the bone density of the long bones NOT_TRANSLATED +en An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm HP:0003102 IAO:0000115 nl An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm NOT_TRANSLATED +en An abnormal increase in the concentration of Tn antigen on glycoproteins HP:0410372 IAO:0000115 nl An abnormal increase in the concentration of Tn antigen on glycoproteins NOT_TRANSLATED +en An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation HP:0032067 IAO:0000115 nl An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation NOT_TRANSLATED +en An abnormal increase in the concentration of complex N-glycans on glycoproteins HP:0410352 IAO:0000115 nl An abnormal increase in the concentration of complex N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal increase in the concentration of core 1 O-glycans on glycoproteins HP:0410360 IAO:0000115 nl An abnormal increase in the concentration of core 1 O-glycans on glycoproteins NOT_TRANSLATED +en An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins HP:0410365 IAO:0000115 nl An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins NOT_TRANSLATED +en An abnormal increase in the concentration of galactosylated oligosaccharides in urine HP:0410346 IAO:0000115 nl An abnormal increase in the concentration of galactosylated oligosaccharides in urine NOT_TRANSLATED +en An abnormal increase in the concentration of globoside Gb4 HP:0410366 IAO:0000115 nl An abnormal increase in the concentration of globoside Gb4 NOT_TRANSLATED +en An abnormal increase in the concentration of glycolipid globoside Gb3 HP:0410368 IAO:0000115 nl An abnormal increase in the concentration of glycolipid globoside Gb3 NOT_TRANSLATED +en An abnormal increase in the concentration of heparan sulfate in the blood HP:0410342 IAO:0000115 nl An abnormal increase in the concentration of heparan sulfate in the blood NOT_TRANSLATED +en An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins HP:0410357 IAO:0000115 nl An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine HP:0410347 IAO:0000115 nl An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine NOT_TRANSLATED +en An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins HP:0410363 IAO:0000115 nl An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins NOT_TRANSLATED +en An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine HP:0410348 IAO:0000115 nl An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine NOT_TRANSLATED +en An abnormal increase in the concentration of polyhexose in the urine HP:0410345 IAO:0000115 nl An abnormal increase in the concentration of polyhexose in the urine NOT_TRANSLATED +en An abnormal increase in the concentration of sialylated N-glycans on glycoproteins HP:0410354 IAO:0000115 nl An abnormal increase in the concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED +en An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine HP:0410350 IAO:0000115 nl An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine NOT_TRANSLATED +en An abnormal increase in the length of the tibia HP:0010504 IAO:0000115 nl An abnormal increase in the length of the tibia NOT_TRANSLATED +en An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation HP:0032657 IAO:0000115 nl An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation NOT_TRANSLATED +en An abnormal increase in the level of lipoprotein cholesterol in the blood HP:0010980 IAO:0000115 nl An abnormal increase in the level of lipoprotein cholesterol in the blood NOT_TRANSLATED +en An abnormal increase in the level of triglycerides in the blood HP:0002155 IAO:0000115 nl An abnormal increase in the level of triglycerides in the blood NOT_TRANSLATED +en An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation HP:0032653 IAO:0000115 nl An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation NOT_TRANSLATED +en An abnormal increase in the number of leukocytes in the blood HP:0001974 IAO:0000115 nl An abnormal increase in the number of leukocytes in the blood NOT_TRANSLATED +en An abnormal increase in the number of mitochondria per cardiac myocyte HP:0031320 IAO:0000115 nl An abnormal increase in the number of mitochondria per cardiac myocyte NOT_TRANSLATED +en An abnormal increase in the pitch (frequency) of the voice HP:0001620 IAO:0000115 nl An abnormal increase in the pitch (frequency) of the voice NOT_TRANSLATED +en An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc HP:0031973 IAO:0000115 nl An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc NOT_TRANSLATED +en An abnormal increase in the size of nasopharyngeal adenoids HP:0040261 IAO:0000115 nl An abnormal increase in the size of nasopharyngeal adenoids NOT_TRANSLATED +en An abnormal increase in the size of the foramen magnum HP:0002700 IAO:0000115 nl An abnormal increase in the size of the foramen magnum NOT_TRANSLATED +en An abnormal increase in the size of the kidney HP:0000105 IAO:0000115 nl An abnormal increase in the size of the kidney NOT_TRANSLATED +en An abnormal increase in the thickness (diameter) of a tendon HP:0032523 IAO:0000115 nl An abnormal increase in the thickness (diameter) of a tendon NOT_TRANSLATED +en An abnormal increase in the thickness of the atrial septum HP:0031296 IAO:0000115 nl An abnormal increase in the thickness of the atrial septum NOT_TRANSLATED +en An abnormal increase in the total number of T cells detected in the blood HP:0100828 IAO:0000115 nl An abnormal increase in the total number of T cells detected in the blood NOT_TRANSLATED +en An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation HP:0033751 IAO:0000115 nl An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation NOT_TRANSLATED +en An abnormal increase of bone mineral density with generalized involvement of the skeleton HP:0005789 IAO:0000115 nl An abnormal increase of bone mineral density with generalized involvement of the skeleton NOT_TRANSLATED +en An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones HP:0011001 IAO:0000115 nl An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones NOT_TRANSLATED +en An abnormal increase of density of the bones making up the calvaria HP:0000250 IAO:0000115 nl An abnormal increase of density of the bones making up the calvaria NOT_TRANSLATED +en An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood HP:0010979 IAO:0000115 nl An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood NOT_TRANSLATED +en An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland HP:0012684 IAO:0000115 nl An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland NOT_TRANSLATED +en An abnormal increase or decrease of weight or an abnormal distribution of mass in the body HP:0004323 IAO:0000115 nl An abnormal increase or decrease of weight or an abnormal distribution of mass in the body NOT_TRANSLATED +en An abnormal increased concentration of parathyroid hormone HP:0003165 IAO:0000115 nl An abnormal increased concentration of parathyroid hormone NOT_TRANSLATED +en An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation HP:0032345 IAO:0000115 nl An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation NOT_TRANSLATED +en An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood HP:0003154 IAO:0000115 nl An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood NOT_TRANSLATED +en An abnormal indentation of the skin in the region of the nasal tip HP:0004132 IAO:0000115 nl An abnormal indentation of the skin in the region of the nasal tip NOT_TRANSLATED +en An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital HP:0000621 IAO:0000115 nl An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital NOT_TRANSLATED +en An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle HP:0031736 IAO:0000115 nl An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle NOT_TRANSLATED +en An abnormal irregularity of cortical bone HP:0005731 IAO:0000115 nl An abnormal irregularity of cortical bone NOT_TRANSLATED +en An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus HP:0003927 IAO:0000115 nl An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus NOT_TRANSLATED +en An abnormal lack of stability of the cervical spine HP:0010646 IAO:0000115 nl An abnormal lack of stability of the cervical spine NOT_TRANSLATED +en An abnormal lesion or swelling seen on gallbladder imaging HP:0034507 IAO:0000115 nl An abnormal lesion or swelling seen on gallbladder imaging NOT_TRANSLATED +en An abnormal level of a circulating protein in the blood HP:0010876 IAO:0000115 nl An abnormal level of a circulating protein in the blood NOT_TRANSLATED +en An abnormal level of an analyte measured in the blood HP:0032180 IAO:0000115 nl An abnormal level of an analyte measured in the blood NOT_TRANSLATED +en An abnormal level of blood oxygen in the cord blood HP:0500259 IAO:0000115 nl An abnormal level of blood oxygen in the cord blood NOT_TRANSLATED +en An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide HP:0031835 IAO:0000115 nl An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide NOT_TRANSLATED +en An abnormal level of heparan sulfate in the blood HP:0410341 IAO:0000115 nl An abnormal level of heparan sulfate in the blood NOT_TRANSLATED +en An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) HP:0410292 IAO:0000115 nl An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) NOT_TRANSLATED +en An abnormal limitation of knee joint mobility HP:0010501 IAO:0000115 nl An abnormal limitation of knee joint mobility NOT_TRANSLATED +en An abnormal limitation of the mobility of the ankle joint HP:0010505 IAO:0000115 nl An abnormal limitation of the mobility of the ankle joint NOT_TRANSLATED +en An abnormal limitation of the mobility of the wrist HP:0006248 IAO:0000115 nl An abnormal limitation of the mobility of the wrist NOT_TRANSLATED +en An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0010855 IAO:0000115 nl An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en An abnormal localized widening (dilatation) of the abdominal aorta HP:0005112 IAO:0000115 nl An abnormal localized widening (dilatation) of the abdominal aorta NOT_TRANSLATED +en An abnormal localized widening (dilatation) of the aortic arch HP:0005113 IAO:0000115 nl An abnormal localized widening (dilatation) of the aortic arch NOT_TRANSLATED +en An abnormal localized widening (dilatation) of the aortic root HP:0002616 IAO:0000115 nl An abnormal localized widening (dilatation) of the aortic root NOT_TRANSLATED +en An abnormal localized widening (dilatation) of the descending thoracic aorta HP:0004959 IAO:0000115 nl An abnormal localized widening (dilatation) of the descending thoracic aorta NOT_TRANSLATED +en An abnormal localized widening (dilatation) of the thoracic aorta HP:0012727 IAO:0000115 nl An abnormal localized widening (dilatation) of the thoracic aorta NOT_TRANSLATED +en An abnormal localized widening (dilatation) of the tubular part of the ascending aorta HP:0004970 IAO:0000115 nl An abnormal localized widening (dilatation) of the tubular part of the ascending aorta NOT_TRANSLATED +en An abnormal loss of anagen (growth phase) hairs HP:0025469 IAO:0000115 nl An abnormal loss of anagen (growth phase) hairs NOT_TRANSLATED +en An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic HP:0030775 IAO:0000115 nl An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic NOT_TRANSLATED +en An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow HP:0030777 IAO:0000115 nl An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow NOT_TRANSLATED +en An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs HP:0030778 IAO:0000115 nl An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs NOT_TRANSLATED +en An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation HP:0030776 IAO:0000115 nl An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation NOT_TRANSLATED +en An abnormal morphology (form) of the face or its components HP:0001999 IAO:0000115 nl An abnormal morphology (form) of the face or its components NOT_TRANSLATED +en An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010187 IAO:0000115 nl An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010196 IAO:0000115 nl An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010205 IAO:0000115 nl An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010060 IAO:0000115 nl An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010385 IAO:0000115 nl An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010373 IAO:0000115 nl An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010349 IAO:0000115 nl An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010361 IAO:0000115 nl An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009652 IAO:0000115 nl An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010175 IAO:0000115 nl An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010078 IAO:0000115 nl An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100442 IAO:0000115 nl An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100441 IAO:0000115 nl An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010415 IAO:0000115 nl An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100440 IAO:0000115 nl An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction HP:0010069 IAO:0000115 nl An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100436 IAO:0000115 nl An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100435 IAO:0000115 nl An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010406 IAO:0000115 nl An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100434 IAO:0000115 nl An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell HP:0040327 IAO:0000115 nl An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell NOT_TRANSLATED +en An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010397 IAO:0000115 nl An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0010087 IAO:0000115 nl An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100439 IAO:0000115 nl An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100438 IAO:0000115 nl An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0100437 IAO:0000115 nl An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger) HP:0006665 IAO:0000115 nl An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger) NOT_TRANSLATED +en An abnormal motion of a segment of the left ventricle during the cardiac cycle HP:0012667 IAO:0000115 nl An abnormal motion of a segment of the left ventricle during the cardiac cycle NOT_TRANSLATED +en An abnormal narrowing of the cervical spinal canal HP:0008445 IAO:0000115 nl An abnormal narrowing of the cervical spinal canal NOT_TRANSLATED +en An abnormal narrowing of the external auditory canal HP:0000402 IAO:0000115 nl An abnormal narrowing of the external auditory canal NOT_TRANSLATED +en An abnormal narrowing of the foramen magnum HP:0002677 IAO:0000115 nl An abnormal narrowing of the foramen magnum NOT_TRANSLATED +en An abnormal narrowing of the lumbar spinal canal HP:0004610 IAO:0000115 nl An abnormal narrowing of the lumbar spinal canal NOT_TRANSLATED +en An abnormal narrowing of the lumen of the esophagus HP:0010450 IAO:0000115 nl An abnormal narrowing of the lumen of the esophagus NOT_TRANSLATED +en An abnormal narrowing of the orifice of the mitral valve HP:0001718 IAO:0000115 nl An abnormal narrowing of the orifice of the mitral valve NOT_TRANSLATED +en An abnormal narrowing of the spinal canal HP:0003416 IAO:0000115 nl An abnormal narrowing of the spinal canal NOT_TRANSLATED +en An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging) HP:0005733 IAO:0000115 nl An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging) NOT_TRANSLATED +en An abnormal narrowing of the urethral opening (meatus) of the penis HP:0032077 IAO:0000115 nl An abnormal narrowing of the urethral opening (meatus) of the penis NOT_TRANSLATED +en An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches HP:0004415 IAO:0000115 nl An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches NOT_TRANSLATED +en An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies HP:0025617 IAO:0000115 nl An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies NOT_TRANSLATED +en An abnormal orange color of urine HP:0032002 IAO:0000115 nl An abnormal orange color of urine NOT_TRANSLATED +en An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly HP:0009909 IAO:0000115 nl An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly NOT_TRANSLATED +en An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA) HP:0031537 IAO:0000115 nl An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA) NOT_TRANSLATED +en An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna HP:0005037 IAO:0000115 nl An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna NOT_TRANSLATED +en An abnormal osseous union (fusion) between the radius and the humerus HP:0003041 IAO:0000115 nl An abnormal osseous union (fusion) between the radius and the humerus NOT_TRANSLATED +en An abnormal osseous union (fusion) between the radius and the ulna HP:0002974 IAO:0000115 nl An abnormal osseous union (fusion) between the radius and the ulna NOT_TRANSLATED +en An abnormal osseous union (fusion) between the ulna and the humerus HP:0003939 IAO:0000115 nl An abnormal osseous union (fusion) between the ulna and the humerus NOT_TRANSLATED +en An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle HP:0033105 IAO:0000115 nl An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle NOT_TRANSLATED +en An abnormal path of a coronary artery HP:0011686 IAO:0000115 nl An abnormal path of a coronary artery NOT_TRANSLATED +en An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes HP:0012196 IAO:0000115 nl An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes NOT_TRANSLATED +en An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly HP:0002168 IAO:0000115 nl An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly NOT_TRANSLATED +en An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis HP:0030050 IAO:0000115 nl An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis NOT_TRANSLATED +en An abnormal phosphate concentration in the urine HP:0012599 IAO:0000115 nl An abnormal phosphate concentration in the urine NOT_TRANSLATED +en An abnormal pigmentation pattern of the external genitalia HP:0012293 IAO:0000115 nl An abnormal pigmentation pattern of the external genitalia NOT_TRANSLATED +en An abnormal pink color of urine HP:0032001 IAO:0000115 nl An abnormal pink color of urine NOT_TRANSLATED +en An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance) HP:0025359 IAO:0000115 nl An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance) NOT_TRANSLATED +en An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb) HP:0009486 IAO:0000115 nl An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb) NOT_TRANSLATED +en An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy) HP:0003803 IAO:0000115 nl An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy) NOT_TRANSLATED +en An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy) HP:0010602 IAO:0000115 nl An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy) NOT_TRANSLATED +en An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot HP:0005542 IAO:0000115 nl An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot NOT_TRANSLATED +en An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction HP:0003436 IAO:0000115 nl An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction NOT_TRANSLATED +en An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells HP:0031399 IAO:0000115 nl An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells NOT_TRANSLATED +en An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high HP:0410379 IAO:0000115 nl An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED +en An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative HP:0020177 IAO:0000115 nl An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative NOT_TRANSLATED +en An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high HP:0410380 IAO:0000115 nl An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED +en An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype HP:0025620 IAO:0000115 nl An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype NOT_TRANSLATED +en An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410381 IAO:0000115 nl An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410384 IAO:0000115 nl An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count HP:0500267 IAO:0000115 nl An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count NOT_TRANSLATED +en An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0025623 IAO:0000115 nl An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410383 IAO:0000115 nl An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response HP:0032182 IAO:0000115 nl An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response NOT_TRANSLATED +en An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images HP:0033775 IAO:0000115 nl An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images NOT_TRANSLATED +en An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs) HP:0002832 IAO:0000115 nl An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs) NOT_TRANSLATED +en An abnormal pupil shape that is elliptical, i.e., egg-like HP:0025310 IAO:0000115 nl An abnormal pupil shape that is elliptical, i.e., egg-like NOT_TRANSLATED +en An abnormal purple color of the urine HP:0040322 IAO:0000115 nl An abnormal purple color of the urine NOT_TRANSLATED +en An abnormal red color of the urine HP:0040318 IAO:0000115 nl An abnormal red color of the urine NOT_TRANSLATED +en An abnormal red-brown color of the urine HP:0040320 IAO:0000115 nl An abnormal red-brown color of the urine NOT_TRANSLATED +en An abnormal reduction below normal hemoglobin concentration in the circulation HP:0020062 IAO:0000115 nl An abnormal reduction below normal hemoglobin concentration in the circulation NOT_TRANSLATED +en An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation HP:0032305 IAO:0000115 nl An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation NOT_TRANSLATED +en An abnormal reduction below the normal number of red blood cells per volume in the circulation HP:0020060 IAO:0000115 nl An abnormal reduction below the normal number of red blood cells per volume in the circulation NOT_TRANSLATED +en An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level HP:0003637 IAO:0000115 nl An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level NOT_TRANSLATED +en An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide HP:0002877 IAO:0000115 nl An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide NOT_TRANSLATED +en An abnormal reduction in alveolar volume HP:0033633 IAO:0000115 nl An abnormal reduction in alveolar volume NOT_TRANSLATED +en An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level HP:0003654 IAO:0000115 nl An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level NOT_TRANSLATED +en An abnormal reduction in mitochondrial DNA content of cells HP:0030059 IAO:0000115 nl An abnormal reduction in mitochondrial DNA content of cells NOT_TRANSLATED +en An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets) HP:0001876 IAO:0000115 nl An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets) NOT_TRANSLATED +en An abnormal reduction in quantity or strength of fetal movements HP:0001558 IAO:0000115 nl An abnormal reduction in quantity or strength of fetal movements NOT_TRANSLATED +en An abnormal reduction in sensation in the distal portions of the extremities HP:0002936 IAO:0000115 nl An abnormal reduction in sensation in the distal portions of the extremities NOT_TRANSLATED +en An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur HP:0031413 IAO:0000115 nl An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur NOT_TRANSLATED +en An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record HP:0008179 IAO:0000115 nl An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record NOT_TRANSLATED +en An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing HP:0005216 IAO:0000115 nl An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing NOT_TRANSLATED +en An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication HP:0032357 IAO:0000115 nl An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication NOT_TRANSLATED +en An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication HP:0032356 IAO:0000115 nl An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication NOT_TRANSLATED +en An abnormal reduction in the amount of air a person can expel following maximal inspiration HP:0032341 IAO:0000115 nl An abnormal reduction in the amount of air a person can expel following maximal inspiration NOT_TRANSLATED +en An abnormal reduction in the amount of air a person can forcefully expel in one second HP:0032342 IAO:0000115 nl An abnormal reduction in the amount of air a person can forcefully expel in one second NOT_TRANSLATED +en An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication HP:0032358 IAO:0000115 nl An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication NOT_TRANSLATED +en An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina) HP:0001022 IAO:0000115 nl An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina) NOT_TRANSLATED +en An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina HP:0001107 IAO:0000115 nl An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina NOT_TRANSLATED +en An abnormal reduction in the amount of pigmentation of the iris HP:0007730 IAO:0000115 nl An abnormal reduction in the amount of pigmentation of the iris NOT_TRANSLATED +en An abnormal reduction in the amount of spines on a given dendrite HP:0034005 IAO:0000115 nl An abnormal reduction in the amount of spines on a given dendrite NOT_TRANSLATED +en An abnormal reduction in the amplitude of the a-wave HP:0030483 IAO:0000115 nl An abnormal reduction in the amplitude of the a-wave NOT_TRANSLATED +en An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction HP:0003402 IAO:0000115 nl An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction NOT_TRANSLATED +en An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products HP:0005389 IAO:0000115 nl An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products NOT_TRANSLATED +en An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood HP:0002920 IAO:0000115 nl An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood NOT_TRANSLATED +en An abnormal reduction in the inflammatory response to injury or infection HP:0012648 IAO:0000115 nl An abnormal reduction in the inflammatory response to injury or infection NOT_TRANSLATED +en An abnormal reduction in the mobility of ejaculated sperm HP:0012207 IAO:0000115 nl An abnormal reduction in the mobility of ejaculated sperm NOT_TRANSLATED +en An abnormal reduction in the number of beats per unit time of the respiratory cilia HP:0033158 IAO:0000115 nl An abnormal reduction in the number of beats per unit time of the respiratory cilia NOT_TRANSLATED +en An abnormal reduction in the number of mitochondria in hepatocytes HP:0006581 IAO:0000115 nl An abnormal reduction in the number of mitochondria in hepatocytes NOT_TRANSLATED +en An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland HP:0012685 IAO:0000115 nl An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland NOT_TRANSLATED +en An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time HP:0012213 IAO:0000115 nl An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time NOT_TRANSLATED +en An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation HP:0033750 IAO:0000115 nl An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation NOT_TRANSLATED +en An abnormal reduction in xanthine dehydrogenase level HP:0003534 IAO:0000115 nl An abnormal reduction in xanthine dehydrogenase level NOT_TRANSLATED +en An abnormal reduction of the anterioposterior diameter of the vertebral body HP:0008473 IAO:0000115 nl An abnormal reduction of the anterioposterior diameter of the vertebral body NOT_TRANSLATED +en An abnormal reduction of the cell motility of neutrophils HP:0005400 IAO:0000115 nl An abnormal reduction of the cell motility of neutrophils NOT_TRANSLATED +en An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation HP:0032066 IAO:0000115 nl An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation NOT_TRANSLATED +en An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells HP:0033222 IAO:0000115 nl An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells NOT_TRANSLATED +en An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung HP:0002792 IAO:0000115 nl An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung NOT_TRANSLATED +en An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration HP:0012333 IAO:0000115 nl An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration NOT_TRANSLATED +en An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose HP:0004924 IAO:0000115 nl An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose NOT_TRANSLATED +en An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose HP:0040270 IAO:0000115 nl An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose NOT_TRANSLATED +en An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) HP:0031279 IAO:0000115 nl An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) NOT_TRANSLATED +en An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age HP:0001511 IAO:0000115 nl An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age NOT_TRANSLATED +en An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint HP:0032121 IAO:0000115 nl An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint NOT_TRANSLATED +en An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid HP:0025482 IAO:0000115 nl An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid NOT_TRANSLATED +en An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time HP:0012214 IAO:0000115 nl An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time NOT_TRANSLATED +en An abnormal sensation of spinning while the body is actually stationary HP:0002321 IAO:0000115 nl An abnormal sensation of spinning while the body is actually stationary NOT_TRANSLATED +en An abnormal shape of occiput HP:0011217 IAO:0000115 nl An abnormal shape of occiput NOT_TRANSLATED +en An abnormal shape of the frontal part of the head HP:0011218 IAO:0000115 nl An abnormal shape of the frontal part of the head NOT_TRANSLATED +en An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus HP:0031228 IAO:0000115 nl An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus NOT_TRANSLATED +en An abnormal shape of the lens HP:0011526 IAO:0000115 nl An abnormal shape of the lens NOT_TRANSLATED +en An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other HP:0008422 IAO:0000115 nl An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other NOT_TRANSLATED +en An abnormal shape or form of the proximal phalanx of the big toe HP:0010052 IAO:0000115 nl An abnormal shape or form of the proximal phalanx of the big toe NOT_TRANSLATED +en An abnormal shift in patterns of thinking, acting, or feeling HP:0000751 IAO:0000115 nl An abnormal shift in patterns of thinking, acting, or feeling NOT_TRANSLATED +en An abnormal shortening of the femur HP:0003097 IAO:0000115 nl An abnormal shortening of the femur NOT_TRANSLATED +en An abnormal site of the kidney HP:0100542 IAO:0000115 nl An abnormal site of the kidney NOT_TRANSLATED +en An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures HP:0200007 IAO:0000115 nl An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures NOT_TRANSLATED +en An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres HP:0034221 IAO:0000115 nl An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres NOT_TRANSLATED +en An abnormal structure of the female germ cell (egg cell) HP:0020155 IAO:0000115 nl An abnormal structure of the female germ cell (egg cell) NOT_TRANSLATED +en An abnormal structure of the first digit of the hand HP:0001172 IAO:0000115 nl An abnormal structure of the first digit of the hand NOT_TRANSLATED +en An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier HP:0033272 IAO:0000115 nl An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier NOT_TRANSLATED +en An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin HP:0003328 IAO:0000115 nl An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin NOT_TRANSLATED +en An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum HP:0033806 IAO:0000115 nl An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum NOT_TRANSLATED +en An abnormal structure of the tip (end) of a finger HP:0001211 IAO:0000115 nl An abnormal structure of the tip (end) of a finger NOT_TRANSLATED +en An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane HP:0032449 IAO:0000115 nl An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane NOT_TRANSLATED +en An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join HP:0001367 IAO:0000115 nl An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join NOT_TRANSLATED +en An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects HP:0001892 IAO:0000115 nl An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects NOT_TRANSLATED +en An abnormal thickening of the Achilles tendon HP:0004690 IAO:0000115 nl An abnormal thickening of the Achilles tendon NOT_TRANSLATED +en An abnormal union between bones or parts of bones lower limbs HP:0009138 IAO:0000115 nl An abnormal union between bones or parts of bones lower limbs NOT_TRANSLATED +en An abnormal union between bones or parts of bones of the hand HP:0004278 IAO:0000115 nl An abnormal union between bones or parts of bones of the hand NOT_TRANSLATED +en An abnormal union between bones or parts of bones of the upper limbs HP:0100238 IAO:0000115 nl An abnormal union between bones or parts of bones of the upper limbs NOT_TRANSLATED +en An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum) HP:0010559 IAO:0000115 nl An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum) NOT_TRANSLATED +en An abnormal white reflection from the pupil rather than the usual black reflection HP:0000555 IAO:0000115 nl An abnormal white reflection from the pupil rather than the usual black reflection NOT_TRANSLATED +en An abnormal widening (dilatation) of the brachiocephalic artery HP:0034324 IAO:0000115 nl An abnormal widening (dilatation) of the brachiocephalic artery NOT_TRANSLATED +en An abnormal widening (dilatation) of the common carotid artery HP:0034325 IAO:0000115 nl An abnormal widening (dilatation) of the common carotid artery NOT_TRANSLATED +en An abnormal widening of the diameter of the pulmonary artery HP:0004927 IAO:0000115 nl An abnormal widening of the diameter of the pulmonary artery NOT_TRANSLATED +en An abnormal, increased fatiguability of the musculature HP:0003750 IAO:0000115 nl An abnormal, increased fatiguability of the musculature NOT_TRANSLATED +en An abnormality affecting one or both 5th fingers HP:0004207 IAO:0000115 nl An abnormality affecting one or both 5th fingers NOT_TRANSLATED +en An abnormality affecting one or both hands HP:0001155 IAO:0000115 nl An abnormality affecting one or both hands NOT_TRANSLATED +en An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate) HP:0001191 IAO:0000115 nl An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate) NOT_TRANSLATED +en An abnormality characterized by chronic impairment of the normal functioning of the axons HP:0007267 IAO:0000115 nl An abnormality characterized by chronic impairment of the normal functioning of the axons NOT_TRANSLATED +en An abnormality characterized by disruption of the normal functioning of peripheral axons HP:0003477 IAO:0000115 nl An abnormality characterized by disruption of the normal functioning of peripheral axons NOT_TRANSLATED +en An abnormality in a cellular process HP:0011017 IAO:0000115 nl An abnormality in a cellular process NOT_TRANSLATED +en An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level HP:0410210 IAO:0000115 nl An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level NOT_TRANSLATED +en An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci) HP:0010841 IAO:0000115 nl An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci) NOT_TRANSLATED +en An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast HP:0032112 IAO:0000115 nl An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast NOT_TRANSLATED +en An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test HP:0032111 IAO:0000115 nl An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test NOT_TRANSLATED +en An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target HP:0032036 IAO:0000115 nl An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target NOT_TRANSLATED +en An abnormality in the amount of volume occupied by intravascular blood HP:0011104 IAO:0000115 nl An abnormality in the amount of volume occupied by intravascular blood NOT_TRANSLATED +en An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation HP:0410144 IAO:0000115 nl An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation NOT_TRANSLATED +en An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection HP:0410251 IAO:0000115 nl An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection NOT_TRANSLATED +en An abnormality in the concentration of electrolytes in the urine HP:0012591 IAO:0000115 nl An abnormality in the concentration of electrolytes in the urine NOT_TRANSLATED +en An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products HP:0032245 IAO:0000115 nl An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products NOT_TRANSLATED +en An abnormality in the placement of the ocular globe (eyeball) HP:0100886 IAO:0000115 nl An abnormality in the placement of the ocular globe (eyeball) NOT_TRANSLATED +en An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina HP:0000539 IAO:0000115 nl An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina NOT_TRANSLATED +en An abnormality in the production or cellular release of a chemokine (a class of cytokines) HP:0011115 IAO:0000115 nl An abnormality in the production or cellular release of a chemokine (a class of cytokines) NOT_TRANSLATED +en An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells) HP:0011113 IAO:0000115 nl An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells) NOT_TRANSLATED +en An abnormality in the production or cellular release of interferons (a class of cytokines) HP:0011116 IAO:0000115 nl An abnormality in the production or cellular release of interferons (a class of cytokines) NOT_TRANSLATED +en An abnormality in the production or cellular release of interleukins (a class of cytokines) HP:0011117 IAO:0000115 nl An abnormality in the production or cellular release of interleukins (a class of cytokines) NOT_TRANSLATED +en An abnormality in the production or cellular release of tumor necrosis factor HP:0011118 IAO:0000115 nl An abnormality in the production or cellular release of tumor necrosis factor NOT_TRANSLATED +en An abnormality in the range and ease of motion of joints across their normal range HP:0011729 IAO:0000115 nl An abnormality in the range and ease of motion of joints across their normal range NOT_TRANSLATED +en An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent HP:0030402 IAO:0000115 nl An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent NOT_TRANSLATED +en An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation HP:0040121 IAO:0000115 nl An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation NOT_TRANSLATED +en An abnormality in the size of the ocular globe (eyeball) HP:0100887 IAO:0000115 nl An abnormality in the size of the ocular globe (eyeball) NOT_TRANSLATED +en An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes HP:0010472 IAO:0000115 nl An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes NOT_TRANSLATED +en An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410193 IAO:0000115 nl An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED +en An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410196 IAO:0000115 nl An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED +en An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410192 IAO:0000115 nl An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED +en An abnormality in voluntary or involuntary eye movements or their control HP:0000496 IAO:0000115 nl An abnormality in voluntary or involuntary eye movements or their control NOT_TRANSLATED +en An abnormality in voluntary or involuntary eyelid movements or their control HP:0031785 IAO:0000115 nl An abnormality in voluntary or involuntary eyelid movements or their control NOT_TRANSLATED +en An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements HP:0031565 IAO:0000115 nl An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements NOT_TRANSLATED +en An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway HP:0004309 IAO:0000115 nl An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway NOT_TRANSLATED +en An abnormality in which the eyes are held permanently wide open HP:0025401 IAO:0000115 nl An abnormality in which the eyes are held permanently wide open NOT_TRANSLATED +en An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body HP:0030853 IAO:0000115 nl An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body NOT_TRANSLATED +en An abnormality in which the mandible is mislocalised posteriorly HP:0000278 IAO:0000115 nl An abnormality in which the mandible is mislocalised posteriorly NOT_TRANSLATED +en An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells) HP:0003687 IAO:0000115 nl An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells) NOT_TRANSLATED +en An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress HP:0011704 IAO:0000115 nl An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress NOT_TRANSLATED +en An abnormality involving the movement of the eye outwards HP:0011347 IAO:0000115 nl An abnormality involving the movement of the eye outwards NOT_TRANSLATED +en An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation HP:0030604 IAO:0000115 nl An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation NOT_TRANSLATED +en An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity HP:0003536 IAO:0000115 nl An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity NOT_TRANSLATED +en An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity HP:0003210 IAO:0000115 nl An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity NOT_TRANSLATED +en An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone HP:0100685 IAO:0000115 nl An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone NOT_TRANSLATED +en An abnormality of T cells HP:0002843 IAO:0000115 nl An abnormality of T cells NOT_TRANSLATED +en An abnormality of XY sexual development characterized by the absence of both testes at birth HP:0030869 IAO:0000115 nl An abnormality of XY sexual development characterized by the absence of both testes at birth NOT_TRANSLATED +en An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head HP:3000036 IAO:0000115 nl An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head NOT_TRANSLATED +en An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck HP:3000037 IAO:0000115 nl An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck NOT_TRANSLATED +en An abnormality of a buccal fat pad HP:3000021 IAO:0000115 nl An abnormality of a buccal fat pad NOT_TRANSLATED +en An abnormality of a buccal mucosa HP:3000019 IAO:0000115 nl An abnormality of a buccal mucosa NOT_TRANSLATED +en An abnormality of a buccinator muscle HP:3000027 IAO:0000115 nl An abnormality of a buccinator muscle NOT_TRANSLATED +en An abnormality of a cardiac ventricle HP:0001713 IAO:0000115 nl An abnormality of a cardiac ventricle NOT_TRANSLATED +en An abnormality of a cartilage of external ear HP:3000022 IAO:0000115 nl An abnormality of a cartilage of external ear NOT_TRANSLATED +en An abnormality of a cartilage of nasal septum HP:3000034 IAO:0000115 nl An abnormality of a cartilage of nasal septum NOT_TRANSLATED +en An abnormality of a central retinal artery HP:3000032 IAO:0000115 nl An abnormality of a central retinal artery NOT_TRANSLATED +en An abnormality of a ciliary ganglion HP:3000025 IAO:0000115 nl An abnormality of a ciliary ganglion NOT_TRANSLATED +en An abnormality of a cysteine metabolic process HP:0010918 IAO:0000115 nl An abnormality of a cysteine metabolic process NOT_TRANSLATED +en An abnormality of a depressor anguli oris muscle HP:3000028 IAO:0000115 nl An abnormality of a depressor anguli oris muscle NOT_TRANSLATED +en An abnormality of a depressor labii inferioris HP:3000029 IAO:0000115 nl An abnormality of a depressor labii inferioris NOT_TRANSLATED +en An abnormality of a dorsal nasal artery HP:3000039 IAO:0000115 nl An abnormality of a dorsal nasal artery NOT_TRANSLATED +en An abnormality of a facial vein HP:3000043 IAO:0000115 nl An abnormality of a facial vein NOT_TRANSLATED +en An abnormality of a frontal process of the maxilla bone HP:3000044 IAO:0000115 nl An abnormality of a frontal process of the maxilla bone NOT_TRANSLATED +en An abnormality of a frontalis muscle belly HP:3000004 IAO:0000115 nl An abnormality of a frontalis muscle belly NOT_TRANSLATED +en An abnormality of a genioglossus muscle HP:3000045 IAO:0000115 nl An abnormality of a genioglossus muscle NOT_TRANSLATED +en An abnormality of a geniohyoid muscle HP:3000046 IAO:0000115 nl An abnormality of a geniohyoid muscle NOT_TRANSLATED +en An abnormality of a greater palatine artery HP:3000049 IAO:0000115 nl An abnormality of a greater palatine artery NOT_TRANSLATED +en An abnormality of a histidine metabolic process HP:0010904 IAO:0000115 nl An abnormality of a histidine metabolic process NOT_TRANSLATED +en An abnormality of a homocysteine metabolic process HP:0010919 IAO:0000115 nl An abnormality of a homocysteine metabolic process NOT_TRANSLATED +en An abnormality of a hyoglossus muscle HP:3000051 IAO:0000115 nl An abnormality of a hyoglossus muscle NOT_TRANSLATED +en An abnormality of a lacrimal artery HP:3000065 IAO:0000115 nl An abnormality of a lacrimal artery NOT_TRANSLATED +en An abnormality of a lacrimal sac HP:3000066 IAO:0000115 nl An abnormality of a lacrimal sac NOT_TRANSLATED +en An abnormality of a lateral pterygoid muscle HP:3000068 IAO:0000115 nl An abnormality of a lateral pterygoid muscle NOT_TRANSLATED +en An abnormality of a lateral rectus extra-ocular muscle HP:3000069 IAO:0000115 nl An abnormality of a lateral rectus extra-ocular muscle NOT_TRANSLATED +en An abnormality of a levator anguli oris HP:3000070 IAO:0000115 nl An abnormality of a levator anguli oris NOT_TRANSLATED +en An abnormality of a levator labii superioris HP:3000071 IAO:0000115 nl An abnormality of a levator labii superioris NOT_TRANSLATED +en An abnormality of a levator palpebrae superioris HP:3000072 IAO:0000115 nl An abnormality of a levator palpebrae superioris NOT_TRANSLATED +en An abnormality of a levator veli palatini HP:3000073 IAO:0000115 nl An abnormality of a levator veli palatini NOT_TRANSLATED +en An abnormality of a lingual tonsil HP:3000076 IAO:0000115 nl An abnormality of a lingual tonsil NOT_TRANSLATED +en An abnormality of a mandible condylar process HP:3000077 IAO:0000115 nl An abnormality of a mandible condylar process NOT_TRANSLATED +en An abnormality of a mandible coronoid process HP:3000078 IAO:0000115 nl An abnormality of a mandible coronoid process NOT_TRANSLATED +en An abnormality of a mandibular ramus HP:3000003 IAO:0000115 nl An abnormality of a mandibular ramus NOT_TRANSLATED +en An abnormality of a masseter muscle HP:3000005 IAO:0000115 nl An abnormality of a masseter muscle NOT_TRANSLATED +en An abnormality of a medial pterygoid muscle HP:3000006 IAO:0000115 nl An abnormality of a medial pterygoid muscle NOT_TRANSLATED +en An abnormality of a mentalis muscle HP:3000007 IAO:0000115 nl An abnormality of a mentalis muscle NOT_TRANSLATED +en An abnormality of a mylohyoid muscle HP:3000008 IAO:0000115 nl An abnormality of a mylohyoid muscle NOT_TRANSLATED +en An abnormality of a nasalis muscle HP:3000009 IAO:0000115 nl An abnormality of a nasalis muscle NOT_TRANSLATED +en An abnormality of a nucleobase metabolic process HP:0010932 IAO:0000115 nl An abnormality of a nucleobase metabolic process NOT_TRANSLATED +en An abnormality of a palatoglossus muscle HP:3000011 IAO:0000115 nl An abnormality of a palatoglossus muscle NOT_TRANSLATED +en An abnormality of a palatopharyngeus muscle HP:3000012 IAO:0000115 nl An abnormality of a palatopharyngeus muscle NOT_TRANSLATED +en An abnormality of a procerus HP:3000014 IAO:0000115 nl An abnormality of a procerus NOT_TRANSLATED +en An abnormality of a pyruvate family amino acid metabolic process HP:0010915 IAO:0000115 nl An abnormality of a pyruvate family amino acid metabolic process NOT_TRANSLATED +en An abnormality of a risorius muscle HP:3000015 IAO:0000115 nl An abnormality of a risorius muscle NOT_TRANSLATED +en An abnormality of a temporalis muscle HP:3000017 IAO:0000115 nl An abnormality of a temporalis muscle NOT_TRANSLATED +en An abnormality of a zygomaticus major muscle HP:3000018 IAO:0000115 nl An abnormality of a zygomaticus major muscle NOT_TRANSLATED +en An abnormality of a zygomaticus minor muscle HP:3000020 IAO:0000115 nl An abnormality of a zygomaticus minor muscle NOT_TRANSLATED +en An abnormality of actions or reactions of a person taking place during interactions with others HP:0012433 IAO:0000115 nl An abnormality of actions or reactions of a person taking place during interactions with others NOT_TRANSLATED +en An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation HP:0008352 IAO:0000115 nl An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation NOT_TRANSLATED +en An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes HP:0009124 IAO:0000115 nl An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes NOT_TRANSLATED +en An abnormality of alkaline phosphatase level HP:0004379 IAO:0000115 nl An abnormality of alkaline phosphatase level NOT_TRANSLATED +en An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase HP:0003353 IAO:0000115 nl An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase NOT_TRANSLATED +en An abnormality of an alanine metabolic process HP:0010916 IAO:0000115 nl An abnormality of an alanine metabolic process NOT_TRANSLATED +en An abnormality of an anterior ethmoidal artery HP:3000031 IAO:0000115 nl An abnormality of an anterior ethmoidal artery NOT_TRANSLATED +en An abnormality of an artery of lower lip HP:3000056 IAO:0000115 nl An abnormality of an artery of lower lip NOT_TRANSLATED +en An abnormality of an atrioventricular valve HP:0006705 IAO:0000115 nl An abnormality of an atrioventricular valve NOT_TRANSLATED +en An abnormality of an erythrocyte cell surface molecule HP:0010970 IAO:0000115 nl An abnormality of an erythrocyte cell surface molecule NOT_TRANSLATED +en An abnormality of an ethmoid sinus HP:3000040 IAO:0000115 nl An abnormality of an ethmoid sinus NOT_TRANSLATED +en An abnormality of an external carotid artery HP:3000041 IAO:0000115 nl An abnormality of an external carotid artery NOT_TRANSLATED +en An abnormality of an external jugular vein of the neck HP:0430024 IAO:0000115 nl An abnormality of an external jugular vein of the neck NOT_TRANSLATED +en An abnormality of an extraocular muscle HP:0008049 IAO:0000115 nl An abnormality of an extraocular muscle NOT_TRANSLATED +en An abnormality of an inferior alveolar artery HP:3000054 IAO:0000115 nl An abnormality of an inferior alveolar artery NOT_TRANSLATED +en An abnormality of an inferior alveolar nerve HP:3000055 IAO:0000115 nl An abnormality of an inferior alveolar nerve NOT_TRANSLATED +en An abnormality of an inferior oblique extraocular muscle HP:3000057 IAO:0000115 nl An abnormality of an inferior oblique extraocular muscle NOT_TRANSLATED +en An abnormality of an inferior rectus extraocular muscle HP:3000058 IAO:0000115 nl An abnormality of an inferior rectus extraocular muscle NOT_TRANSLATED +en An abnormality of an inferior thyroid vein HP:3000059 IAO:0000115 nl An abnormality of an inferior thyroid vein NOT_TRANSLATED +en An abnormality of an infraorbital artery HP:3000060 IAO:0000115 nl An abnormality of an infraorbital artery NOT_TRANSLATED +en An abnormality of an internal carotid artery HP:3000062 IAO:0000115 nl An abnormality of an internal carotid artery NOT_TRANSLATED +en An abnormality of an internal jugular vein HP:3000063 IAO:0000115 nl An abnormality of an internal jugular vein NOT_TRANSLATED +en An abnormality of an intrinsic muscle of tongue HP:3000064 IAO:0000115 nl An abnormality of an intrinsic muscle of tongue NOT_TRANSLATED +en An abnormality of an odontoid tissue HP:3000050 IAO:0000115 nl An abnormality of an odontoid tissue NOT_TRANSLATED +en An abnormality of an orbicularis oris muscle HP:3000010 IAO:0000115 nl An abnormality of an orbicularis oris muscle NOT_TRANSLATED +en An abnormality of an orbit of skull HP:3000030 IAO:0000115 nl An abnormality of an orbit of skull NOT_TRANSLATED +en An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression HP:0430019 IAO:0000115 nl An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression NOT_TRANSLATED +en An abnormality of any of the muscles of the pharynx HP:0430015 IAO:0000115 nl An abnormality of any of the muscles of the pharynx NOT_TRANSLATED +en An abnormality of astrocytes HP:0100707 IAO:0000115 nl An abnormality of astrocytes NOT_TRANSLATED +en An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth HP:0011514 IAO:0000115 nl An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth NOT_TRANSLATED +en An abnormality of blood circulation HP:0011028 IAO:0000115 nl An abnormality of blood circulation NOT_TRANSLATED +en An abnormality of blood coagulation, common pathway HP:0010990 IAO:0000115 nl An abnormality of blood coagulation, common pathway NOT_TRANSLATED +en An abnormality of calcium concentration in the urine HP:0011280 IAO:0000115 nl An abnormality of calcium concentration in the urine NOT_TRANSLATED +en An abnormality of canine tooth HP:0011078 IAO:0000115 nl An abnormality of canine tooth NOT_TRANSLATED +en An abnormality of carbon dioxide (CO2) in the arterial blood HP:0500164 IAO:0000115 nl An abnormality of carbon dioxide (CO2) in the arterial blood NOT_TRANSLATED +en An abnormality of cation homeostasis HP:0010929 IAO:0000115 nl An abnormality of cation homeostasis NOT_TRANSLATED +en An abnormality of chloride homeostasis or concentration in the body HP:0011422 IAO:0000115 nl An abnormality of chloride homeostasis or concentration in the body NOT_TRANSLATED +en An abnormality of chromosome condensation HP:0011019 IAO:0000115 nl An abnormality of chromosome condensation NOT_TRANSLATED +en An abnormality of chromosome segregation HP:0002916 IAO:0000115 nl An abnormality of chromosome segregation NOT_TRANSLATED +en An abnormality of coagulation associated with an increased risk of thrombosis HP:0100724 IAO:0000115 nl An abnormality of coagulation associated with an increased risk of thrombosis NOT_TRANSLATED +en An abnormality of coagulation related to a decreased concentration of antithrombin-III HP:0001976 IAO:0000115 nl An abnormality of coagulation related to a decreased concentration of antithrombin-III NOT_TRANSLATED +en An abnormality of coagulation related to a decreased concentration of heparin co-factor II HP:0040226 IAO:0000115 nl An abnormality of coagulation related to a decreased concentration of heparin co-factor II NOT_TRANSLATED +en An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va HP:0005543 IAO:0000115 nl An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va NOT_TRANSLATED +en An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C HP:0004855 IAO:0000115 nl An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C NOT_TRANSLATED +en An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones HP:0003103 IAO:0000115 nl An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones NOT_TRANSLATED +en An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule HP:0030773 IAO:0000115 nl An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule NOT_TRANSLATED +en An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla HP:0005932 IAO:0000115 nl An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla NOT_TRANSLATED +en An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles HP:0007477 IAO:0000115 nl An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles NOT_TRANSLATED +en An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot HP:0010506 IAO:0000115 nl An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot NOT_TRANSLATED +en An abnormality of divalent inorganic cation homeostasis HP:0010927 IAO:0000115 nl An abnormality of divalent inorganic cation homeostasis NOT_TRANSLATED +en An abnormality of emotional behaviour HP:0100851 IAO:0000115 nl An abnormality of emotional behaviour NOT_TRANSLATED +en An abnormality of eye movement characterized by impaired smooth-pursuit eye movements HP:0000617 IAO:0000115 nl An abnormality of eye movement characterized by impaired smooth-pursuit eye movements NOT_TRANSLATED +en An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements HP:0000570 IAO:0000115 nl An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements NOT_TRANSLATED +en An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling HP:0000346 IAO:0000115 nl An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling NOT_TRANSLATED +en An abnormality of fascia HP:0100536 IAO:0000115 nl An abnormality of fascia NOT_TRANSLATED +en An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response HP:0100852 IAO:0000115 nl An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response NOT_TRANSLATED +en An abnormality of fetal movement HP:0001557 IAO:0000115 nl An abnormality of fetal movement NOT_TRANSLATED +en An abnormality of filling of a ventricle with blood during diastole HP:0006683 IAO:0000115 nl An abnormality of filling of a ventricle with blood during diastole NOT_TRANSLATED +en An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor HP:0031848 IAO:0000115 nl An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor NOT_TRANSLATED +en An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion HP:0025518 IAO:0000115 nl An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion NOT_TRANSLATED +en An abnormality of glycolipid metabolism HP:0010969 IAO:0000115 nl An abnormality of glycolipid metabolism NOT_TRANSLATED +en An abnormality of glycolysis HP:0004366 IAO:0000115 nl An abnormality of glycolysis NOT_TRANSLATED +en An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity HP:0003655 IAO:0000115 nl An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity NOT_TRANSLATED +en An abnormality of glycosphingolipid metabolism HP:0004343 IAO:0000115 nl An abnormality of glycosphingolipid metabolism NOT_TRANSLATED +en An abnormality of hair pigmentation (color) HP:0009887 IAO:0000115 nl An abnormality of hair pigmentation (color) NOT_TRANSLATED +en An abnormality of head and neck HP:0000152 IAO:0000115 nl Een afwijking van hoofd en nek CANDIDATE +en An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures HP:0004487 IAO:0000115 nl An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures NOT_TRANSLATED +en An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa HP:0001982 IAO:0000115 nl An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa NOT_TRANSLATED +en An abnormality of leukocytes HP:0001881 IAO:0000115 nl An abnormality of leukocytes NOT_TRANSLATED +en An abnormality of liposaccharide metabolism HP:0010968 IAO:0000115 nl An abnormality of liposaccharide metabolism NOT_TRANSLATED +en An abnormality of lymphocytes HP:0004332 IAO:0000115 nl An abnormality of lymphocytes NOT_TRANSLATED +en An abnormality of macrophages HP:0004311 IAO:0000115 nl An abnormality of macrophages NOT_TRANSLATED +en An abnormality of magnesium ion homeostasis HP:0004921 IAO:0000115 nl An abnormality of magnesium ion homeostasis NOT_TRANSLATED +en An abnormality of male external genitalia HP:0000032 IAO:0000115 nl Een afwijking van mannelijke externe genitaliën CANDIDATE +en An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder HP:0012075 IAO:0000115 nl An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder NOT_TRANSLATED +en An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities HP:0000708 IAO:0000115 nl An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities NOT_TRANSLATED +en An abnormality of molar tooth HP:0011077 IAO:0000115 nl An abnormality of molar tooth NOT_TRANSLATED +en An abnormality of monovalent inorganic cation homeostasis HP:0010930 IAO:0000115 nl An abnormality of monovalent inorganic cation homeostasis NOT_TRANSLATED +en An abnormality of morphology of molar tooth HP:0011070 IAO:0000115 nl An abnormality of morphology of molar tooth NOT_TRANSLATED +en An abnormality of morphology of permanent molar HP:0011071 IAO:0000115 nl An abnormality of morphology of permanent molar NOT_TRANSLATED +en An abnormality of morphology of premolar tooth HP:0011080 IAO:0000115 nl An abnormality of morphology of premolar tooth NOT_TRANSLATED +en An abnormality of morphology of primary molar HP:0006344 IAO:0000115 nl An abnormality of morphology of primary molar NOT_TRANSLATED +en An abnormality of morphology of the incisor tooth HP:0011063 IAO:0000115 nl An abnormality of morphology of the incisor tooth NOT_TRANSLATED +en An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape HP:0006346 IAO:0000115 nl An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape NOT_TRANSLATED +en An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements HP:0100022 IAO:0000115 nl An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements NOT_TRANSLATED +en An abnormality of myelination of nerves in the central nervous system HP:0011400 IAO:0000115 nl An abnormality of myelination of nerves in the central nervous system NOT_TRANSLATED +en An abnormality of myeloid leukocytes HP:0010974 IAO:0000115 nl An abnormality of myeloid leukocytes NOT_TRANSLATED +en An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system HP:0410014 IAO:0000115 nl An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system NOT_TRANSLATED +en An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium HP:0410016 IAO:0000115 nl An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium NOT_TRANSLATED +en An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system HP:0410015 IAO:0000115 nl An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system NOT_TRANSLATED +en An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects HP:0001151 IAO:0000115 nl An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects NOT_TRANSLATED +en An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood HP:0000944 IAO:0000115 nl An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood NOT_TRANSLATED +en An abnormality of one or more of the five muscles of the soft palate HP:0430014 IAO:0000115 nl An abnormality of one or more of the five muscles of the soft palate NOT_TRANSLATED +en An abnormality of one or more of the set of bones that make up the facial skeleton HP:0011821 IAO:0000115 nl An abnormality of one or more of the set of bones that make up the facial skeleton NOT_TRANSLATED +en An abnormality of one or more of the vertebrae HP:0003468 IAO:0000115 nl An abnormality of one or more of the vertebrae NOT_TRANSLATED +en An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed HP:0034346 IAO:0000115 nl An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed NOT_TRANSLATED +en An abnormality of phosphate homeostasis or concentration in the body HP:0100529 IAO:0000115 nl An abnormality of phosphate homeostasis or concentration in the body NOT_TRANSLATED +en An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement HP:0031131 IAO:0000115 nl An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement NOT_TRANSLATED +en An abnormality of platelets HP:0001872 IAO:0000115 nl An abnormality of platelets NOT_TRANSLATED +en An abnormality of premolar tooth HP:0011076 IAO:0000115 nl An abnormality of premolar tooth NOT_TRANSLATED +en An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry HP:0000540 IAO:0000115 nl An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry NOT_TRANSLATED +en An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry HP:0000545 IAO:0000115 nl An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry NOT_TRANSLATED +en An abnormality of renal absorption HP:0011038 IAO:0000115 nl An abnormality of renal absorption NOT_TRANSLATED +en An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord HP:0011730 IAO:0000115 nl An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord NOT_TRANSLATED +en An abnormality of size or shape of the long bones HP:0011314 IAO:0000115 nl An abnormality of size or shape of the long bones NOT_TRANSLATED +en An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae HP:0005871 IAO:0000115 nl An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae NOT_TRANSLATED +en An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width HP:0000248 IAO:0000115 nl An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width NOT_TRANSLATED +en An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture HP:0000268 IAO:0000115 nl An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture NOT_TRANSLATED +en An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness HP:0002360 IAO:0000115 nl An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness NOT_TRANSLATED +en An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex HP:0007377 IAO:0000115 nl An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex NOT_TRANSLATED +en An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed HP:0031146 IAO:0000115 nl An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed NOT_TRANSLATED +en An abnormality of temperature homeostasis HP:0004370 IAO:0000115 nl An abnormality of temperature homeostasis NOT_TRANSLATED +en An abnormality of the Achilles tendon HP:0005109 IAO:0000115 nl An abnormality of the Achilles tendon NOT_TRANSLATED +en An abnormality of the Ala of nose HP:0000429 IAO:0000115 nl An abnormality of the Ala of nose NOT_TRANSLATED +en An abnormality of the Arachnoid mater HP:0100700 IAO:0000115 nl An abnormality of the Arachnoid mater NOT_TRANSLATED +en An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue) HP:0004468 IAO:0000115 nl An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue) NOT_TRANSLATED +en An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder HP:0100889 IAO:0000115 nl An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder NOT_TRANSLATED +en An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain HP:0010662 IAO:0000115 nl An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain NOT_TRANSLATED +en An abnormality of the Dura mater HP:0010652 IAO:0000115 nl An abnormality of the Dura mater NOT_TRANSLATED +en An abnormality of the External acoustic tube (also known as the auditory canal) HP:0000372 IAO:0000115 nl An abnormality of the External acoustic tube (also known as the auditory canal) NOT_TRANSLATED +en An abnormality of the Falx cerebri HP:0010653 IAO:0000115 nl An abnormality of the Falx cerebri NOT_TRANSLATED +en An abnormality of the Incisor tooth HP:0000676 IAO:0000115 nl An abnormality of the Incisor tooth NOT_TRANSLATED +en An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse HP:0011384 IAO:0000115 nl An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse NOT_TRANSLATED +en An abnormality of the Maxilla (upper jaw bone) HP:0000326 IAO:0000115 nl An abnormality of the Maxilla (upper jaw bone) NOT_TRANSLATED +en An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater HP:0010651 IAO:0000115 nl An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater NOT_TRANSLATED +en An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles HP:0005135 IAO:0000115 nl An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles NOT_TRANSLATED +en An abnormality of the abdominal musculature HP:0010991 IAO:0000115 nl An abnormality of the abdominal musculature NOT_TRANSLATED +en An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs HP:0011620 IAO:0000115 nl An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs NOT_TRANSLATED +en An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts HP:0007015 IAO:0000115 nl An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts NOT_TRANSLATED +en An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes HP:0007010 IAO:0000115 nl An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes NOT_TRANSLATED +en An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint HP:0003170 IAO:0000115 nl An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint NOT_TRANSLATED +en An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland HP:0011747 IAO:0000115 nl An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland NOT_TRANSLATED +en An abnormality of the angular artery, the terminal branch of the facial artery HP:3000023 IAO:0000115 nl An abnormality of the angular artery, the terminal branch of the facial artery NOT_TRANSLATED +en An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures HP:0000236 IAO:0000115 nl An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures NOT_TRANSLATED +en An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) HP:0004328 IAO:0000115 nl An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens) NOT_TRANSLATED +en An abnormality of the antihelix HP:0009738 IAO:0000115 nl An abnormality of the antihelix NOT_TRANSLATED +en An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch HP:0009896 IAO:0000115 nl An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch NOT_TRANSLATED +en An abnormality of the anus or rectum HP:0012732 IAO:0000115 nl An abnormality of the anus or rectum NOT_TRANSLATED +en An abnormality of the aorta HP:0001679 IAO:0000115 nl An abnormality of the aorta NOT_TRANSLATED +en An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance HP:0000205 IAO:0000115 nl An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance NOT_TRANSLATED +en An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles HP:0011844 IAO:0000115 nl An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles NOT_TRANSLATED +en An abnormality of the arm HP:0002817 IAO:0000115 nl An abnormality of the arm NOT_TRANSLATED +en An abnormality of the aryepiglottic fold HP:0008744 IAO:0000115 nl An abnormality of the aryepiglottic fold NOT_TRANSLATED +en An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex HP:0006958 IAO:0000115 nl An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex NOT_TRANSLATED +en An abnormality of the autonomic nervous system HP:0002270 IAO:0000115 nl An abnormality of the autonomic nervous system NOT_TRANSLATED +en An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum HP:0009121 IAO:0000115 nl An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum NOT_TRANSLATED +en An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH HP:0004360 IAO:0000115 nl An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH NOT_TRANSLATED +en An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components HP:0002693 IAO:0000115 nl An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components NOT_TRANSLATED +en An abnormality of the biliary system HP:0004297 IAO:0000115 nl An abnormality of the biliary system NOT_TRANSLATED +en An abnormality of the biliary tree HP:0001080 IAO:0000115 nl An abnormality of the biliary tree NOT_TRANSLATED +en An abnormality of the birth process HP:0001787 IAO:0000115 nl An abnormality of the birth process NOT_TRANSLATED +en An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs HP:0002644 IAO:0000115 nl An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs NOT_TRANSLATED +en An abnormality of the breast HP:0000769 IAO:0000115 nl An abnormality of the breast NOT_TRANSLATED +en An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel HP:0008364 IAO:0000115 nl An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel NOT_TRANSLATED +en An abnormality of the calf, i.e. of the posterior part of the lower leg HP:0002981 IAO:0000115 nl An abnormality of the calf, i.e. of the posterior part of the lower leg NOT_TRANSLATED +en An abnormality of the cardiac ventricular function HP:0030872 IAO:0000115 nl An abnormality of the cardiac ventricular function NOT_TRANSLATED +en An abnormality of the cell cycle HP:0011018 IAO:0000115 nl An abnormality of the cell cycle NOT_TRANSLATED +en An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly HP:0009879 IAO:0000115 nl An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly NOT_TRANSLATED +en An abnormality of the cerebral subcortex HP:0010993 IAO:0000115 nl An abnormality of the cerebral subcortex NOT_TRANSLATED +en An abnormality of the cerebral white matter HP:0002500 IAO:0000115 nl An abnormality of the cerebral white matter NOT_TRANSLATED +en An abnormality of the cerebrospinal fluid (CSF) HP:0002921 IAO:0000115 nl An abnormality of the cerebrospinal fluid (CSF) NOT_TRANSLATED +en An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw HP:0000306 IAO:0000115 nl An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw NOT_TRANSLATED +en An abnormality of the choroid and retina HP:0000532 IAO:0000115 nl An abnormality of the choroid and retina NOT_TRANSLATED +en An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells HP:0007376 IAO:0000115 nl An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells NOT_TRANSLATED +en An abnormality of the circulatory connection between atria and ventricles HP:0011546 IAO:0000115 nl An abnormality of the circulatory connection between atria and ventricles NOT_TRANSLATED +en An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta HP:0011563 IAO:0000115 nl An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta NOT_TRANSLATED +en An abnormality of the clitoris HP:0000056 IAO:0000115 nl Een afwijking van de clitoris CANDIDATE +en An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum HP:0010558 IAO:0000115 nl An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum NOT_TRANSLATED +en An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators HP:0003256 IAO:0000115 nl An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators NOT_TRANSLATED +en An abnormality of the cochlea HP:0000375 IAO:0000115 nl An abnormality of the cochlea NOT_TRANSLATED +en An abnormality of the combined rod-and-cone response on electroretinogram HP:0008323 IAO:0000115 nl An abnormality of the combined rod-and-cone response on electroretinogram NOT_TRANSLATED +en An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery HP:0430021 IAO:0000115 nl An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery NOT_TRANSLATED +en An abnormality of the complement system HP:0005339 IAO:0000115 nl An abnormality of the complement system NOT_TRANSLATED +en An abnormality of the composition of sweat or the levels of its components HP:0040127 IAO:0000115 nl An abnormality of the composition of sweat or the levels of its components NOT_TRANSLATED +en An abnormality of the composition of urine or the levels of its components HP:0003110 IAO:0000115 nl An abnormality of the composition of urine or the levels of its components NOT_TRANSLATED +en An abnormality of the concentration of a glucocorticoid in the blood HP:0012111 IAO:0000115 nl An abnormality of the concentration of a glucocorticoid in the blood NOT_TRANSLATED +en An abnormality of the concentration of corticosterone in the blood HP:0012112 IAO:0000115 nl An abnormality of the concentration of corticosterone in the blood NOT_TRANSLATED +en An abnormality of the concentration of cortisol in the blood HP:0011731 IAO:0000115 nl An abnormality of the concentration of cortisol in the blood NOT_TRANSLATED +en An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone HP:0031186 IAO:0000115 nl An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone NOT_TRANSLATED +en An abnormality of the concentration of glucose in the blood HP:0011015 IAO:0000115 nl An abnormality of the concentration of glucose in the blood NOT_TRANSLATED +en An abnormality of the concentration of pregnenolone in the blood HP:0031187 IAO:0000115 nl An abnormality of the concentration of pregnenolone in the blood NOT_TRANSLATED +en An abnormality of the concentration or function of circulating immune proteins HP:0011111 IAO:0000115 nl An abnormality of the concentration or function of circulating immune proteins NOT_TRANSLATED +en An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS) HP:0003134 IAO:0000115 nl An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS) NOT_TRANSLATED +en An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring HP:0500039 IAO:0000115 nl An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring NOT_TRANSLATED +en An abnormality of the conjunctiva HP:0000502 IAO:0000115 nl An abnormality of the conjunctiva NOT_TRANSLATED +en An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation HP:0000585 IAO:0000115 nl An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation NOT_TRANSLATED +en An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium HP:0011642 IAO:0000115 nl An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium NOT_TRANSLATED +en An abnormality of the cortex of the kidney HP:0011035 IAO:0000115 nl An abnormality of the cortex of the kidney NOT_TRANSLATED +en An abnormality of the creases of the skin of palm of hand HP:0010490 IAO:0000115 nl An abnormality of the creases of the skin of palm of hand NOT_TRANSLATED +en An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear HP:0009895 IAO:0000115 nl An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear NOT_TRANSLATED +en An abnormality of the dental enamel HP:0000682 IAO:0000115 nl An abnormality of the dental enamel NOT_TRANSLATED +en An abnormality of the dental pulp HP:0006479 IAO:0000115 nl An abnormality of the dental pulp NOT_TRANSLATED +en An abnormality of the dental root HP:0006486 IAO:0000115 nl An abnormality of the dental root NOT_TRANSLATED +en An abnormality of the dentate nucleus HP:0100321 IAO:0000115 nl An abnormality of the dentate nucleus NOT_TRANSLATED +en An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand HP:0001018 IAO:0000115 nl An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand NOT_TRANSLATED +en An abnormality of the development of the fingernails HP:0100798 IAO:0000115 nl An abnormality of the development of the fingernails NOT_TRANSLATED +en An abnormality of the development of the toenails HP:0100797 IAO:0000115 nl An abnormality of the development of the toenails NOT_TRANSLATED +en An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0010247 IAO:0000115 nl An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009187 IAO:0000115 nl An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009251 IAO:0000115 nl An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009503 IAO:0000115 nl An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009336 IAO:0000115 nl An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009676 IAO:0000115 nl An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the distribution of hair growth HP:0010720 IAO:0000115 nl An abnormality of the distribution of hair growth NOT_TRANSLATED +en An abnormality of the distribution of hair growth that is acquired during the course of life HP:0011360 IAO:0000115 nl An abnormality of the distribution of hair growth that is acquired during the course of life NOT_TRANSLATED +en An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus HP:0011397 IAO:0000115 nl An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus NOT_TRANSLATED +en An abnormality of the duodenum, i.e., the first section of the small intestine HP:0002246 IAO:0000115 nl An abnormality of the duodenum, i.e., the first section of the small intestine NOT_TRANSLATED +en An abnormality of the ear HP:0000598 IAO:0000115 nl An abnormality of the ear NOT_TRANSLATED +en An abnormality of the endocardium HP:0004306 IAO:0000115 nl An abnormality of the endocardium NOT_TRANSLATED +en An abnormality of the endocrine system HP:0000818 IAO:0000115 nl An abnormality of the endocrine system NOT_TRANSLATED +en An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow HP:0004362 IAO:0000115 nl An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow NOT_TRANSLATED +en An abnormality of the epididymis HP:0009714 IAO:0000115 nl An abnormality of the epididymis NOT_TRANSLATED +en An abnormality of the epiglottis HP:0005483 IAO:0000115 nl An abnormality of the epiglottis NOT_TRANSLATED +en An abnormality of the ethmoid bone HP:0430005 IAO:0000115 nl An abnormality of the ethmoid bone NOT_TRANSLATED +en An abnormality of the external ear HP:0000356 IAO:0000115 nl An abnormality of the external ear NOT_TRANSLATED +en An abnormality of the external nose HP:0010938 IAO:0000115 nl An abnormality of the external nose NOT_TRANSLATED +en An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade HP:0010988 IAO:0000115 nl An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade NOT_TRANSLATED +en An abnormality of the eyebrow HP:0000534 IAO:0000115 nl An abnormality of the eyebrow NOT_TRANSLATED +en An abnormality of the eyelashes HP:0000499 IAO:0000115 nl An abnormality of the eyelashes NOT_TRANSLATED +en An abnormality of the eyelids HP:0000492 IAO:0000115 nl An abnormality of the eyelids NOT_TRANSLATED +en An abnormality of the face HP:0000271 IAO:0000115 nl Een afwijking van het gezicht CANDIDATE +en An abnormality of the fallopian tube HP:0011027 IAO:0000115 nl An abnormality of the fallopian tube NOT_TRANSLATED +en An abnormality of the female external genitalia HP:0000055 IAO:0000115 nl Een afwijking van de vrouwelijke externe genitaliën CANDIDATE +en An abnormality of the female internal genitalia HP:0000008 IAO:0000115 nl Een afwijking van de vrouwelijke interne genitalia CANDIDATE +en An abnormality of the femoral head HP:0003368 IAO:0000115 nl An abnormality of the femoral head NOT_TRANSLATED +en An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) HP:0003367 IAO:0000115 nl An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED +en An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities HP:0001197 IAO:0000115 nl An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities NOT_TRANSLATED +en An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009383 IAO:0000115 nl An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the fingernails HP:0001231 IAO:0000115 nl An abnormality of the fingernails NOT_TRANSLATED +en An abnormality of the fontanelle HP:0011328 IAO:0000115 nl An abnormality of the fontanelle NOT_TRANSLATED +en An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle HP:0100547 IAO:0000115 nl An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle NOT_TRANSLATED +en An abnormality of the form, structure, or size of the skeletal system HP:0011842 IAO:0000115 nl An abnormality of the form, structure, or size of the skeletal system NOT_TRANSLATED +en An abnormality of the formation and mineralization of an epiphysis HP:0010656 IAO:0000115 nl An abnormality of the formation and mineralization of an epiphysis NOT_TRANSLATED +en An abnormality of the formation and mineralization of any bone of the bony pelvis HP:0009106 IAO:0000115 nl An abnormality of the formation and mineralization of any bone of the bony pelvis NOT_TRANSLATED +en An abnormality of the formation and mineralization of any bone of the skeleton of foot HP:0010675 IAO:0000115 nl An abnormality of the formation and mineralization of any bone of the skeleton of foot NOT_TRANSLATED +en An abnormality of the formation and mineralization of any bone of the skeleton of hand HP:0010660 IAO:0000115 nl An abnormality of the formation and mineralization of any bone of the skeleton of hand NOT_TRANSLATED +en An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones HP:0008369 IAO:0000115 nl An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED +en An abnormality of the formation and mineralization of one or more vertebrae HP:0100569 IAO:0000115 nl An abnormality of the formation and mineralization of one or more vertebrae NOT_TRANSLATED +en An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum HP:0000932 IAO:0000115 nl An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum NOT_TRANSLATED +en An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009394 IAO:0000115 nl An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the fourth ventricle HP:0010950 IAO:0000115 nl An abnormality of the fourth ventricle NOT_TRANSLATED +en An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina HP:0000493 IAO:0000115 nl An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina NOT_TRANSLATED +en An abnormality of the frontal bone HP:0430000 IAO:0000115 nl An abnormality of the frontal bone NOT_TRANSLATED +en An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone HP:0002687 IAO:0000115 nl An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone NOT_TRANSLATED +en An abnormality of the function of the cardiac atria HP:0025443 IAO:0000115 nl An abnormality of the function of the cardiac atria NOT_TRANSLATED +en An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations HP:0001311 IAO:0000115 nl An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations NOT_TRANSLATED +en An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles HP:0030177 IAO:0000115 nl An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles NOT_TRANSLATED +en An abnormality of the function of the inner ear HP:0011389 IAO:0000115 nl An abnormality of the function of the inner ear NOT_TRANSLATED +en An abnormality of the function of the middle ear HP:0011452 IAO:0000115 nl An abnormality of the function of the middle ear NOT_TRANSLATED +en An abnormality of the function of the pulmonary artery HP:0030967 IAO:0000115 nl An abnormality of the function of the pulmonary artery NOT_TRANSLATED +en An abnormality of the function of the pulmonary veins HP:0030969 IAO:0000115 nl An abnormality of the function of the pulmonary veins NOT_TRANSLATED +en An abnormality of the function of the skeletal system HP:0011843 IAO:0000115 nl An abnormality of the function of the skeletal system NOT_TRANSLATED +en An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava HP:0030970 IAO:0000115 nl An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava NOT_TRANSLATED +en An abnormality of the functioning of any aspect of the alternative complement pathway HP:0005423 IAO:0000115 nl An abnormality of the functioning of any aspect of the alternative complement pathway NOT_TRANSLATED +en An abnormality of the functioning of the vestibular apparatus HP:0001751 IAO:0000115 nl An abnormality of the functioning of the vestibular apparatus NOT_TRANSLATED +en An abnormality of the gallbladder HP:0005264 IAO:0000115 nl An abnormality of the gallbladder NOT_TRANSLATED +en An abnormality of the gastric mucous membrane HP:0004295 IAO:0000115 nl An abnormality of the gastric mucous membrane NOT_TRANSLATED +en An abnormality of the gastrointestinal tract HP:0011024 IAO:0000115 nl An abnormality of the gastrointestinal tract NOT_TRANSLATED +en An abnormality of the genital system HP:0000078 IAO:0000115 nl Een afwijking van het genitaal systeem CANDIDATE +en An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed HP:0005324 IAO:0000115 nl An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed NOT_TRANSLATED +en An abnormality of the glabella HP:0002056 IAO:0000115 nl Een afwijking van de glabella CANDIDATE +en An abnormality of the glia cell HP:0100705 IAO:0000115 nl An abnormality of the glia cell NOT_TRANSLATED +en An abnormality of the globus pallidus HP:0002453 IAO:0000115 nl An abnormality of the globus pallidus NOT_TRANSLATED +en An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present HP:0033225 IAO:0000115 nl An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present NOT_TRANSLATED +en An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain HP:0002536 IAO:0000115 nl An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain NOT_TRANSLATED +en An abnormality of the hair HP:0001595 IAO:0000115 nl An abnormality of the hair NOT_TRANSLATED +en An abnormality of the hair of head HP:0100037 IAO:0000115 nl An abnormality of the hair of head NOT_TRANSLATED +en An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints HP:0005679 IAO:0000115 nl An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints NOT_TRANSLATED +en An abnormality of the head HP:0000234 IAO:0000115 nl An abnormality of the head NOT_TRANSLATED +en An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe HP:0011039 IAO:0000115 nl An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe NOT_TRANSLATED +en An abnormality of the hematopoietic system HP:0001871 IAO:0000115 nl An abnormality of the hematopoietic system NOT_TRANSLATED +en An abnormality of the hepatic vasculature HP:0006707 IAO:0000115 nl An abnormality of the hepatic vasculature NOT_TRANSLATED +en An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium HP:0032181 IAO:0000115 nl An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium NOT_TRANSLATED +en An abnormality of the hindbrain, also known as the rhombencephalon HP:0011282 IAO:0000115 nl An abnormality of the hindbrain, also known as the rhombencephalon NOT_TRANSLATED +en An abnormality of the hip bone HP:0003272 IAO:0000115 nl An abnormality of the hip bone NOT_TRANSLATED +en An abnormality of the hip joint HP:0001384 IAO:0000115 nl An abnormality of the hip joint NOT_TRANSLATED +en An abnormality of the homeostasis (concentration) of iron cation HP:0011031 IAO:0000115 nl An abnormality of the homeostasis (concentration) of iron cation NOT_TRANSLATED +en An abnormality of the homeostasis (concentration) of transition element cation HP:0011030 IAO:0000115 nl An abnormality of the homeostasis (concentration) of transition element cation NOT_TRANSLATED +en An abnormality of the humerus (i.e., upper arm bone) HP:0003063 IAO:0000115 nl An abnormality of the humerus (i.e., upper arm bone) NOT_TRANSLATED +en An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system HP:0005368 IAO:0000115 nl An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system NOT_TRANSLATED +en An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger) HP:0010486 IAO:0000115 nl An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger) NOT_TRANSLATED +en An abnormality of the ilium, the largest and uppermost bone of the pelvis HP:0002867 IAO:0000115 nl An abnormality of the ilium, the largest and uppermost bone of the pelvis NOT_TRANSLATED +en An abnormality of the immune system HP:0002715 IAO:0000115 nl An abnormality of the immune system NOT_TRANSLATED +en An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth HP:0011088 IAO:0000115 nl An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth NOT_TRANSLATED +en An abnormality of the incus, an ossicle in the middle ear HP:0011453 IAO:0000115 nl An abnormality of the incus, an ossicle in the middle ear NOT_TRANSLATED +en An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa HP:0011243 IAO:0000115 nl An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa NOT_TRANSLATED +en An abnormality of the inner ear HP:0000359 IAO:0000115 nl An abnormality of the inner ear NOT_TRANSLATED +en An abnormality of the integument, which consists of the skin and the superficial fascia HP:0001574 IAO:0000115 nl An abnormality of the integument, which consists of the skin and the superficial fascia NOT_TRANSLATED +en An abnormality of the interatrial septum HP:0011994 IAO:0000115 nl An abnormality of the interatrial septum NOT_TRANSLATED +en An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis HP:0002566 IAO:0000115 nl An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis NOT_TRANSLATED +en An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine HP:0002576 IAO:0000115 nl An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine NOT_TRANSLATED +en An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine HP:0002242 IAO:0000115 nl An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine NOT_TRANSLATED +en An abnormality of the intrahepatic bile duct HP:0011040 IAO:0000115 nl An abnormality of the intrahepatic bile duct NOT_TRANSLATED +en An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade HP:0010989 IAO:0000115 nl An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade NOT_TRANSLATED +en An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil HP:0000525 IAO:0000115 nl An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil NOT_TRANSLATED +en An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin HP:0006476 IAO:0000115 nl An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin NOT_TRANSLATED +en An abnormality of the jejunum, i.e., of the middle section of the small intestine HP:0005265 IAO:0000115 nl An abnormality of the jejunum, i.e., of the middle section of the small intestine NOT_TRANSLATED +en An abnormality of the kidney HP:0000077 IAO:0000115 nl Een afwijking van de nieren CANDIDATE +en An abnormality of the knee joint or surrounding structures HP:0002815 IAO:0000115 nl An abnormality of the knee joint or surrounding structures NOT_TRANSLATED +en An abnormality of the lacrimal bone HP:0430002 IAO:0000115 nl An abnormality of the lacrimal bone NOT_TRANSLATED +en An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac HP:0011481 IAO:0000115 nl An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac NOT_TRANSLATED +en An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid HP:0011479 IAO:0000115 nl An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid NOT_TRANSLATED +en An abnormality of the larynx HP:0001600 IAO:0000115 nl An abnormality of the larynx NOT_TRANSLATED +en An abnormality of the leg HP:0002814 IAO:0000115 nl An abnormality of the leg NOT_TRANSLATED +en An abnormality of the lens HP:0000517 IAO:0000115 nl An abnormality of the lens NOT_TRANSLATED +en An abnormality of the levator labii superioris alaeque nasi muscle HP:0430020 IAO:0000115 nl An abnormality of the levator labii superioris alaeque nasi muscle NOT_TRANSLATED +en An abnormality of the level of activity of circulating fibrinogen HP:0011898 IAO:0000115 nl An abnormality of the level of activity of circulating fibrinogen NOT_TRANSLATED +en An abnormality of the line of Schwalbe HP:0008048 IAO:0000115 nl An abnormality of the line of Schwalbe NOT_TRANSLATED +en An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity HP:0000190 IAO:0000115 nl An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity NOT_TRANSLATED +en An abnormality of the lip HP:0000159 IAO:0000115 nl Een afwijking van de lip CANDIDATE +en An abnormality of the liver HP:0001392 IAO:0000115 nl An abnormality of the liver NOT_TRANSLATED +en An abnormality of the lobule of pinna HP:0000363 IAO:0000115 nl An abnormality of the lobule of pinna NOT_TRANSLATED +en An abnormality of the lower arm HP:0002973 IAO:0000115 nl An abnormality of the lower arm NOT_TRANSLATED +en An abnormality of the lower lip HP:0000178 IAO:0000115 nl Een afwijking van de onderlip CANDIDATE +en An abnormality of the lower urinary tract HP:0010936 IAO:0000115 nl An abnormality of the lower urinary tract NOT_TRANSLATED +en An abnormality of the male internal genitalia HP:0000022 IAO:0000115 nl Een afwijking van de mannelijke interne genitaliën CANDIDATE +en An abnormality of the malleus, an ossicle in the middle ear HP:0011454 IAO:0000115 nl An abnormality of the malleus, an ossicle in the middle ear NOT_TRANSLATED +en An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone HP:0000264 IAO:0000115 nl An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone NOT_TRANSLATED +en An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity HP:0430023 IAO:0000115 nl An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity NOT_TRANSLATED +en An abnormality of the medulla oblongata, the lower half of the brainstem HP:0011441 IAO:0000115 nl An abnormality of the medulla oblongata, the lower half of the brainstem NOT_TRANSLATED +en An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored HP:0100253 IAO:0000115 nl An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored NOT_TRANSLATED +en An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis) HP:0011125 IAO:0000115 nl An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis) NOT_TRANSLATED +en An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries HP:0001966 IAO:0000115 nl An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries NOT_TRANSLATED +en An abnormality of the metabolism of folic acid, which is also known as vitamin B9 HP:0012335 IAO:0000115 nl An abnormality of the metabolism of folic acid, which is also known as vitamin B9 NOT_TRANSLATED +en An abnormality of the metabolism of mucopolysaccharide HP:0011020 IAO:0000115 nl An abnormality of the metabolism of mucopolysaccharide NOT_TRANSLATED +en An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum HP:0011283 IAO:0000115 nl An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum NOT_TRANSLATED +en An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells HP:0100708 IAO:0000115 nl An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells NOT_TRANSLATED +en An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct HP:0002418 IAO:0000115 nl An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct NOT_TRANSLATED +en An abnormality of the middle ear HP:0000370 IAO:0000115 nl An abnormality of the middle ear NOT_TRANSLATED +en An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0010258 IAO:0000115 nl An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009204 IAO:0000115 nl An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009215 IAO:0000115 nl An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009514 IAO:0000115 nl An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009322 IAO:0000115 nl An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea) HP:0004452 IAO:0000115 nl An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea) NOT_TRANSLATED +en An abnormality of the mitochondria in muscle tissue HP:0008316 IAO:0000115 nl An abnormality of the mitochondria in muscle tissue NOT_TRANSLATED +en An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction HP:0001653 IAO:0000115 nl An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction NOT_TRANSLATED +en An abnormality of the morphology of secondary premolar tooth HP:0006338 IAO:0000115 nl An abnormality of the morphology of secondary premolar tooth NOT_TRANSLATED +en An abnormality of the morphology of the epidermis HP:0011124 IAO:0000115 nl An abnormality of the morphology of the epidermis NOT_TRANSLATED +en An abnormality of the morphology of the semicircular canal HP:0011380 IAO:0000115 nl An abnormality of the morphology of the semicircular canal NOT_TRANSLATED +en An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous HP:0001782 IAO:0000115 nl An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous NOT_TRANSLATED +en An abnormality of the morphology of the tooth HP:0006482 IAO:0000115 nl An abnormality of the morphology of the tooth NOT_TRANSLATED +en An abnormality of the morphology or counts of the cells that make up the immune system HP:0010987 IAO:0000115 nl An abnormality of the morphology or counts of the cells that make up the immune system NOT_TRANSLATED +en An abnormality of the morphology or structure of the middle ear HP:0008609 IAO:0000115 nl An abnormality of the morphology or structure of the middle ear NOT_TRANSLATED +en An abnormality of the mouth HP:0000153 IAO:0000115 nl An abnormality of the mouth NOT_TRANSLATED +en An abnormality of the muscles of the structure of the nose HP:0430018 IAO:0000115 nl An abnormality of the muscles of the structure of the nose NOT_TRANSLATED +en An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense HP:0003130 IAO:0000115 nl An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense NOT_TRANSLATED +en An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone HP:0010939 IAO:0000115 nl An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone NOT_TRANSLATED +en An abnormality of the nasal dorsum, also known as the nasal ridge HP:0011119 IAO:0000115 nl An abnormality of the nasal dorsum, also known as the nasal ridge NOT_TRANSLATED +en An abnormality of the nasal septum HP:0000419 IAO:0000115 nl An abnormality of the nasal septum NOT_TRANSLATED +en An abnormality of the nasal skeleton HP:0010937 IAO:0000115 nl An abnormality of the nasal skeleton NOT_TRANSLATED +en An abnormality of the nasal tip HP:0000436 IAO:0000115 nl An abnormality of the nasal tip NOT_TRANSLATED +en An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity HP:0000614 IAO:0000115 nl An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity NOT_TRANSLATED +en An abnormality of the neck HP:0000464 IAO:0000115 nl An abnormality of the neck NOT_TRANSLATED +en An abnormality of the neck musculature HP:0011006 IAO:0000115 nl An abnormality of the neck musculature NOT_TRANSLATED +en An abnormality of the nervous system HP:0000707 IAO:0000115 nl An abnormality of the nervous system NOT_TRANSLATED +en An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis HP:0011751 IAO:0000115 nl An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis NOT_TRANSLATED +en An abnormality of the nipple HP:0004404 IAO:0000115 nl An abnormality of the nipple NOT_TRANSLATED +en An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney HP:0004717 IAO:0000115 nl An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney NOT_TRANSLATED +en An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney HP:0004712 IAO:0000115 nl An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney NOT_TRANSLATED +en An abnormality of the nose HP:0000366 IAO:0000115 nl An abnormality of the nose NOT_TRANSLATED +en An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation HP:0041043 IAO:0000115 nl An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation NOT_TRANSLATED +en An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic HP:0025514 IAO:0000115 nl An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic NOT_TRANSLATED +en An abnormality of the outflow tract of the left ventricle HP:0011103 IAO:0000115 nl An abnormality of the outflow tract of the left ventricle NOT_TRANSLATED +en An abnormality of the outline, configuration, or contour of the mouth HP:0011338 IAO:0000115 nl An abnormality of the outline, configuration, or contour of the mouth NOT_TRANSLATED +en An abnormality of the ovary HP:0000137 IAO:0000115 nl An abnormality of the ovary NOT_TRANSLATED +en An abnormality of the ovulation cycle HP:0000140 IAO:0000115 nl An abnormality of the ovulation cycle NOT_TRANSLATED +en An abnormality of the palatine bone HP:0430003 IAO:0000115 nl An abnormality of the palatine bone NOT_TRANSLATED +en An abnormality of the palm, that is, of the front of the hand HP:0100871 IAO:0000115 nl An abnormality of the palm, that is, of the front of the hand NOT_TRANSLATED +en An abnormality of the palpebral conjunctiva HP:0430011 IAO:0000115 nl An abnormality of the palpebral conjunctiva NOT_TRANSLATED +en An abnormality of the pancreas HP:0001732 IAO:0000115 nl An abnormality of the pancreas NOT_TRANSLATED +en An abnormality of the parathyroid gland HP:0000828 IAO:0000115 nl An abnormality of the parathyroid gland NOT_TRANSLATED +en An abnormality of the partial pressure of oxygen in the arterial blood HP:0500165 IAO:0000115 nl An abnormality of the partial pressure of oxygen in the arterial blood NOT_TRANSLATED +en An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood HP:0012415 IAO:0000115 nl An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood NOT_TRANSLATED +en An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone HP:0005089 IAO:0000115 nl An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone NOT_TRANSLATED +en An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major HP:0011957 IAO:0000115 nl An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major NOT_TRANSLATED +en An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery HP:0001697 IAO:0000115 nl An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery NOT_TRANSLATED +en An abnormality of the peritoneum HP:0002585 IAO:0000115 nl An abnormality of the peritoneum NOT_TRANSLATED +en An abnormality of the philtrum HP:0000288 IAO:0000115 nl An abnormality of the philtrum NOT_TRANSLATED +en An abnormality of the physiological functioning of B cells HP:0005372 IAO:0000115 nl An abnormality of the physiological functioning of B cells NOT_TRANSLATED +en An abnormality of the pia mater HP:0100701 IAO:0000115 nl An abnormality of the pia mater NOT_TRANSLATED +en An abnormality of the pigmentation of the mucosa of the mouth HP:0100669 IAO:0000115 nl An abnormality of the pigmentation of the mucosa of the mouth NOT_TRANSLATED +en An abnormality of the pigmentation of the skin HP:0001000 IAO:0000115 nl An abnormality of the pigmentation of the skin NOT_TRANSLATED +en An abnormality of the pinna, which is also referred to as the auricle or external ear HP:0000377 IAO:0000115 nl An abnormality of the pinna, which is also referred to as the auricle or external ear NOT_TRANSLATED +en An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta) HP:0001194 IAO:0000115 nl An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta) NOT_TRANSLATED +en An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement HP:0011414 IAO:0000115 nl An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement NOT_TRANSLATED +en An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange HP:0100767 IAO:0000115 nl An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange NOT_TRANSLATED +en An abnormality of the plantar part of foot, that is of the soles of the feet HP:0100872 IAO:0000115 nl An abnormality of the plantar part of foot, that is of the soles of the feet NOT_TRANSLATED +en An abnormality of the platysma muscle HP:3000013 IAO:0000115 nl An abnormality of the platysma muscle NOT_TRANSLATED +en An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures HP:0430029 IAO:0000115 nl An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures NOT_TRANSLATED +en An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures HP:0010650 IAO:0000115 nl An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures NOT_TRANSLATED +en An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate HP:0010758 IAO:0000115 nl An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate NOT_TRANSLATED +en An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing HP:0003474 IAO:0000115 nl An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing NOT_TRANSLATED +en An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage HP:0003254 IAO:0000115 nl An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage NOT_TRANSLATED +en An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot HP:0001928 IAO:0000115 nl An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot NOT_TRANSLATED +en An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage HP:0003336 IAO:0000115 nl An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage NOT_TRANSLATED +en An abnormality of the process of ossification of the skull HP:0002703 IAO:0000115 nl An abnormality of the process of ossification of the skull NOT_TRANSLATED +en An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions HP:0025463 IAO:0000115 nl An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions NOT_TRANSLATED +en An abnormality of the prostate HP:0008775 IAO:0000115 nl An abnormality of the prostate NOT_TRANSLATED +en An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0010269 IAO:0000115 nl An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009197 IAO:0000115 nl An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009262 IAO:0000115 nl An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009525 IAO:0000115 nl An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009347 IAO:0000115 nl An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009665 IAO:0000115 nl An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the pulmonary artery HP:0004414 IAO:0000115 nl An abnormality of the pulmonary artery NOT_TRANSLATED +en An abnormality of the pulmonary lymphatic chain HP:0006529 IAO:0000115 nl An abnormality of the pulmonary lymphatic chain NOT_TRANSLATED +en An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls HP:0002103 IAO:0000115 nl An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls NOT_TRANSLATED +en An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung HP:0011619 IAO:0000115 nl An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung NOT_TRANSLATED +en An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung HP:0011618 IAO:0000115 nl An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung NOT_TRANSLATED +en An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same HP:0011617 IAO:0000115 nl An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same NOT_TRANSLATED +en An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi HP:0011615 IAO:0000115 nl An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi NOT_TRANSLATED +en An abnormality of the pulmonary veins HP:0011718 IAO:0000115 nl An abnormality of the pulmonary veins NOT_TRANSLATED +en An abnormality of the pupil HP:0000615 IAO:0000115 nl An abnormality of the pupil NOT_TRANSLATED +en An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation HP:0012074 IAO:0000115 nl An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation NOT_TRANSLATED +en An abnormality of the pylorus HP:0004400 IAO:0000115 nl An abnormality of the pylorus NOT_TRANSLATED +en An abnormality of the radius HP:0002818 IAO:0000115 nl An abnormality of the radius NOT_TRANSLATED +en An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye HP:0007695 IAO:0000115 nl An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye NOT_TRANSLATED +en An abnormality of the region around the nails of the fingers or toes HP:0100803 IAO:0000115 nl An abnormality of the region around the nails of the fingers or toes NOT_TRANSLATED +en An abnormality of the region situated around the orbit of the eye HP:0000606 IAO:0000115 nl An abnormality of the region situated around the orbit of the eye NOT_TRANSLATED +en An abnormality of the regulation of body fluids HP:0011032 IAO:0000115 nl An abnormality of the regulation of body fluids NOT_TRANSLATED +en An abnormality of the renal collecting system HP:0004742 IAO:0000115 nl An abnormality of the renal collecting system NOT_TRANSLATED +en An abnormality of the renal pelvis HP:0010944 IAO:0000115 nl An abnormality of the renal pelvis NOT_TRANSLATED +en An abnormality of the renal tubules HP:0000091 IAO:0000115 nl An abnormality of the renal tubules NOT_TRANSLATED +en An abnormality of the renin-angiotensin system HP:0000847 IAO:0000115 nl An abnormality of the renin-angiotensin system NOT_TRANSLATED +en An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles HP:0002086 IAO:0000115 nl An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles NOT_TRANSLATED +en An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss HP:0000580 IAO:0000115 nl An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss NOT_TRANSLATED +en An abnormality of the retractable fold of skin that covers the tip of the penis HP:0100587 IAO:0000115 nl An abnormality of the retractable fold of skin that covers the tip of the penis NOT_TRANSLATED +en An abnormality of the right ventricle of the heart HP:0001707 IAO:0000115 nl An abnormality of the right ventricle of the heart NOT_TRANSLATED +en An abnormality of the sacral bone HP:0005107 IAO:0000115 nl An abnormality of the sacral bone NOT_TRANSLATED +en An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium HP:0010456 IAO:0000115 nl An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium NOT_TRANSLATED +en An abnormality of the sclera HP:0000591 IAO:0000115 nl An abnormality of the sclera NOT_TRANSLATED +en An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009489 IAO:0000115 nl An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the sensory perception of sound HP:0000364 IAO:0000115 nl An abnormality of the sensory perception of sound NOT_TRANSLATED +en An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain HP:0007375 IAO:0000115 nl An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain NOT_TRANSLATED +en An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front) HP:0008432 IAO:0000115 nl An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED +en An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front) HP:0011941 IAO:0000115 nl An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED +en An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front) HP:0004573 IAO:0000115 nl An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED +en An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front) HP:0011940 IAO:0000115 nl An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front) NOT_TRANSLATED +en An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back) HP:0008444 IAO:0000115 nl An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back) NOT_TRANSLATED +en An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula HP:0003043 IAO:0000115 nl An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula NOT_TRANSLATED +en An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart HP:0011702 IAO:0000115 nl An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart NOT_TRANSLATED +en An abnormality of the skeletal system HP:0000924 IAO:0000115 nl An abnormality of the skeletal system NOT_TRANSLATED +en An abnormality of the skeleton of foot HP:0001760 IAO:0000115 nl An abnormality of the skeleton of foot NOT_TRANSLATED +en An abnormality of the skin HP:0000951 IAO:0000115 nl An abnormality of the skin NOT_TRANSLATED +en An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands HP:0011138 IAO:0000115 nl An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands NOT_TRANSLATED +en An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization HP:0008064 IAO:0000115 nl An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization NOT_TRANSLATED +en An abnormality of the skin of the palm, that is, the skin of the front of the hand HP:0040211 IAO:0000115 nl An abnormality of the skin of the palm, that is, the skin of the front of the hand NOT_TRANSLATED +en An abnormality of the skin that is not localized to any one particular region HP:0011354 IAO:0000115 nl An abnormality of the skin that is not localized to any one particular region NOT_TRANSLATED +en An abnormality of the skin that is restricted to a particular body region HP:0011356 IAO:0000115 nl An abnormality of the skin that is restricted to a particular body region NOT_TRANSLATED +en An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone HP:0000929 IAO:0000115 nl An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone NOT_TRANSLATED +en An abnormality of the small intestine HP:0002244 IAO:0000115 nl An abnormality of the small intestine NOT_TRANSLATED +en An abnormality of the soft palate HP:0100736 IAO:0000115 nl An abnormality of the soft palate NOT_TRANSLATED +en An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone HP:0430022 IAO:0000115 nl An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone NOT_TRANSLATED +en An abnormality of the spinal cord (myelon) HP:0002143 IAO:0000115 nl An abnormality of the spinal cord (myelon) NOT_TRANSLATED +en An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord HP:0009744 IAO:0000115 nl An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord NOT_TRANSLATED +en An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract HP:0003133 IAO:0000115 nl An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract NOT_TRANSLATED +en An abnormality of the spleen HP:0001743 IAO:0000115 nl An abnormality of the spleen NOT_TRANSLATED +en An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear HP:0008628 IAO:0000115 nl An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear NOT_TRANSLATED +en An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura HP:0011244 IAO:0000115 nl An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura NOT_TRANSLATED +en An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button) HP:0410276 IAO:0000115 nl An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button) NOT_TRANSLATED +en An abnormality of the stomach HP:0002577 IAO:0000115 nl An abnormality of the stomach NOT_TRANSLATED +en An abnormality of the stroma of cornea, also known as the substantia propria of cornea HP:0011492 IAO:0000115 nl An abnormality of the stroma of cornea, also known as the substantia propria of cornea NOT_TRANSLATED +en An abnormality of the structure of the pulmonary artery HP:0030966 IAO:0000115 nl An abnormality of the structure of the pulmonary artery NOT_TRANSLATED +en An abnormality of the structure of the pulmonary veins HP:0030968 IAO:0000115 nl An abnormality of the structure of the pulmonary veins NOT_TRANSLATED +en An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava HP:0005345 IAO:0000115 nl An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava NOT_TRANSLATED +en An abnormality of the structure or appearance of the umbilicus HP:0001551 IAO:0000115 nl An abnormality of the structure or appearance of the umbilicus NOT_TRANSLATED +en An abnormality of the structure or composition of the teeth HP:0011061 IAO:0000115 nl An abnormality of the structure or composition of the teeth NOT_TRANSLATED +en An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone HP:0000940 IAO:0000115 nl An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone NOT_TRANSLATED +en An abnormality of the structure or form of the tendons, also often called sinews HP:0100261 IAO:0000115 nl An abnormality of the structure or form of the tendons, also often called sinews NOT_TRANSLATED +en An abnormality of the styloglossus muscle HP:3000016 IAO:0000115 nl An abnormality of the styloglossus muscle NOT_TRANSLATED +en An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa HP:0011245 IAO:0000115 nl An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa NOT_TRANSLATED +en An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries HP:0011004 IAO:0000115 nl An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries NOT_TRANSLATED +en An abnormality of the talus HP:0008365 IAO:0000115 nl An abnormality of the talus NOT_TRANSLATED +en An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone HP:0001850 IAO:0000115 nl An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone NOT_TRANSLATED +en An abnormality of the tensor veli palatini muscle HP:0430016 IAO:0000115 nl An abnormality of the tensor veli palatini muscle NOT_TRANSLATED +en An abnormality of the texture of the hair HP:0010719 IAO:0000115 nl An abnormality of the texture of the hair NOT_TRANSLATED +en An abnormality of the thalamus HP:0010663 IAO:0000115 nl An abnormality of the thalamus NOT_TRANSLATED +en An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb HP:0001227 IAO:0000115 nl An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb NOT_TRANSLATED +en An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009411 IAO:0000115 nl An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the third metatarsal bone HP:0010672 IAO:0000115 nl An abnormality of the third metatarsal bone NOT_TRANSLATED +en An abnormality of the third ventricle HP:0010951 IAO:0000115 nl An abnormality of the third ventricle NOT_TRANSLATED +en An abnormality of the thoracic vertebral column HP:0100711 IAO:0000115 nl An abnormality of the thoracic vertebral column NOT_TRANSLATED +en An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0009687 IAO:0000115 nl An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en An abnormality of the thyroid gland HP:0000820 IAO:0000115 nl An abnormality of the thyroid gland NOT_TRANSLATED +en An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct HP:0010518 IAO:0000115 nl An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct NOT_TRANSLATED +en An abnormality of the tonsils HP:0100765 IAO:0000115 nl An abnormality of the tonsils NOT_TRANSLATED +en An abnormality of the tragus HP:0009912 IAO:0000115 nl An abnormality of the tragus NOT_TRANSLATED +en An abnormality of the tricarboxylic acid cycle HP:0000816 IAO:0000115 nl An abnormality of the tricarboxylic acid cycle NOT_TRANSLATED +en An abnormality of the tympanic membrane HP:0040090 IAO:0000115 nl An abnormality of the tympanic membrane NOT_TRANSLATED +en An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta HP:0010881 IAO:0000115 nl An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta NOT_TRANSLATED +en An abnormality of the upper lip HP:0000177 IAO:0000115 nl An abnormality of the upper lip NOT_TRANSLATED +en An abnormality of the upper respiratory tract HP:0002087 IAO:0000115 nl An abnormality of the upper respiratory tract NOT_TRANSLATED +en An abnormality of the upper urinary tract HP:0010935 IAO:0000115 nl An abnormality of the upper urinary tract NOT_TRANSLATED +en An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder HP:0000069 IAO:0000115 nl Een afwijking van de ureter CANDIDATE +en An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body HP:0000795 IAO:0000115 nl An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body NOT_TRANSLATED +en An abnormality of the urinary bladder HP:0000014 IAO:0000115 nl Een afwijking van de urineblaas CANDIDATE +en An abnormality of the urinary system HP:0000079 IAO:0000115 nl Een afwijking van de urinewegen CANDIDATE +en An abnormality of the uterus HP:0000130 IAO:0000115 nl Een afwijking van de uterus CANDIDATE +en An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging HP:0031106 IAO:0000115 nl An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging NOT_TRANSLATED +en An abnormality of the uvea, the vascular layer of the eyeball HP:0000553 IAO:0000115 nl An abnormality of the uvea, the vascular layer of the eyeball NOT_TRANSLATED +en An abnormality of the uvular muscle HP:0430017 IAO:0000115 nl An abnormality of the uvular muscle NOT_TRANSLATED +en An abnormality of the vasculature HP:0002597 IAO:0000115 nl An abnormality of the vasculature NOT_TRANSLATED +en An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin HP:0011339 IAO:0000115 nl An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin NOT_TRANSLATED +en An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude HP:0007670 IAO:0000115 nl An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude NOT_TRANSLATED +en An abnormality of the viscera of the abdomen HP:0002012 IAO:0000115 nl An abnormality of the viscera of the abdomen NOT_TRANSLATED +en An abnormality of the vocal cord HP:0008777 IAO:0000115 nl An abnormality of the vocal cord NOT_TRANSLATED +en An abnormality of the vomer HP:0410000 IAO:0000115 nl An abnormality of the vomer NOT_TRANSLATED +en An abnormality of the xiphoid process of the sternum HP:0100892 IAO:0000115 nl An abnormality of the xiphoid process of the sternum NOT_TRANSLATED +en An abnormality of the zygomatic arch, also known as the cheek bone HP:0005557 IAO:0000115 nl An abnormality of the zygomatic arch, also known as the cheek bone NOT_TRANSLATED +en An abnormality of the zygomatic bone HP:0010668 IAO:0000115 nl An abnormality of the zygomatic bone NOT_TRANSLATED +en An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3) HP:0000836 IAO:0000115 nl An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3) NOT_TRANSLATED +en An abnormality of tooth eruption HP:0006292 IAO:0000115 nl An abnormality of tooth eruption NOT_TRANSLATED +en An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements HP:0001152 IAO:0000115 nl An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements NOT_TRANSLATED +en An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound HP:0000405 IAO:0000115 nl An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound NOT_TRANSLATED +en An abnormality of zinc ion homeostasis HP:0008277 IAO:0000115 nl An abnormality of zinc ion homeostasis NOT_TRANSLATED +en An abnormality related to a defect of vertebral separation during development HP:0003422 IAO:0000115 nl An abnormality related to a defect of vertebral separation during development NOT_TRANSLATED +en An abnormality related to a defect of vertebral separation of cervical vertebrae during development HP:0004632 IAO:0000115 nl An abnormality related to a defect of vertebral separation of cervical vertebrae during development NOT_TRANSLATED +en An abnormality related to a defect of vertebral separation of sacral vertebrae during development HP:0008468 IAO:0000115 nl An abnormality related to a defect of vertebral separation of sacral vertebrae during development NOT_TRANSLATED +en An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs HP:0100270 IAO:0000115 nl An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs NOT_TRANSLATED +en An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon HP:0002251 IAO:0000115 nl An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon NOT_TRANSLATED +en An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection HP:0002277 IAO:0000115 nl An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection NOT_TRANSLATED +en An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain HP:0002269 IAO:0000115 nl An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain NOT_TRANSLATED +en An abnormality that involves the tubules and interstitial tissue of the kidney HP:0001969 IAO:0000115 nl An abnormality that involves the tubules and interstitial tissue of the kidney NOT_TRANSLATED +en An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms HP:0010724 IAO:0000115 nl An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms NOT_TRANSLATED +en An abnormally decreased amount of catalase level HP:0012517 IAO:0000115 nl An abnormally decreased amount of catalase level NOT_TRANSLATED +en An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream HP:0012509 IAO:0000115 nl An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream NOT_TRANSLATED +en An abnormally decreased calcium concentration in the blood HP:0002901 IAO:0000115 nl An abnormally decreased calcium concentration in the blood NOT_TRANSLATED +en An abnormally decreased calcium concentration in the urine HP:0003127 IAO:0000115 nl An abnormally decreased calcium concentration in the urine NOT_TRANSLATED +en An abnormally decreased chloride concentration in the blood HP:0003113 IAO:0000115 nl An abnormally decreased chloride concentration in the blood NOT_TRANSLATED +en An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation HP:0045046 IAO:0000115 nl An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of interleukin 10 in the blood circulation HP:0034163 IAO:0000115 nl An abnormally decreased concentration of interleukin 10 in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of interleukin 17A in the blood circulation HP:0034177 IAO:0000115 nl An abnormally decreased concentration of interleukin 17A in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of interleukin 21 in the blood circulation HP:0034165 IAO:0000115 nl An abnormally decreased concentration of interleukin 21 in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of interleukin 22 in the blood circulation HP:0034168 IAO:0000115 nl An abnormally decreased concentration of interleukin 22 in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of interleukin 23 in the blood circulation HP:0034171 IAO:0000115 nl An abnormally decreased concentration of interleukin 23 in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of interleukin 27 in the blood circulation HP:0034174 IAO:0000115 nl An abnormally decreased concentration of interleukin 27 in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of interleukin 9 in the blood circulation HP:0034161 IAO:0000115 nl An abnormally decreased concentration of interleukin 9 in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of leukotriene C4 in the blood circulation HP:0030390 IAO:0000115 nl An abnormally decreased concentration of leukotriene C4 in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of parathyroid hormone HP:0031817 IAO:0000115 nl An abnormally decreased concentration of parathyroid hormone NOT_TRANSLATED +en An abnormally decreased concentration of transferrin in the blood circulation HP:0032387 IAO:0000115 nl An abnormally decreased concentration of transferrin in the blood circulation NOT_TRANSLATED +en An abnormally decreased concentration of vitamin B6 in the blood circulation HP:0008326 IAO:0000115 nl An abnormally decreased concentration of vitamin B6 in the blood circulation NOT_TRANSLATED +en An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis HP:0034073 IAO:0000115 nl An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis NOT_TRANSLATED +en An abnormally decreased level of immunoglobulin D (IgD) in blood HP:0410245 IAO:0000115 nl An abnormally decreased level of immunoglobulin D (IgD) in blood NOT_TRANSLATED +en An abnormally decreased level of immunoglobulin E (IgE) in blood HP:0005479 IAO:0000115 nl An abnormally decreased level of immunoglobulin E (IgE) in blood NOT_TRANSLATED +en An abnormally decreased level of immunoglobulin G (IgG) in blood HP:0004315 IAO:0000115 nl An abnormally decreased level of immunoglobulin G (IgG) in blood NOT_TRANSLATED +en An abnormally decreased level of immunoglobulin M (IgM) in blood HP:0002850 IAO:0000115 nl An abnormally decreased level of immunoglobulin M (IgM) in blood NOT_TRANSLATED +en An abnormally decreased level of immunoglobulin in blood HP:0004313 IAO:0000115 nl An abnormally decreased level of immunoglobulin in blood NOT_TRANSLATED +en An abnormally decreased magnesium concentration in the blood HP:0002917 IAO:0000115 nl An abnormally decreased magnesium concentration in the blood NOT_TRANSLATED +en An abnormally decreased phosphate concentration in the blood HP:0002148 IAO:0000115 nl An abnormally decreased phosphate concentration in the blood NOT_TRANSLATED +en An abnormally decreased phosphate concentration in the urine HP:0012365 IAO:0000115 nl An abnormally decreased phosphate concentration in the urine NOT_TRANSLATED +en An abnormally decreased potassium concentration in the blood HP:0002900 IAO:0000115 nl An abnormally decreased potassium concentration in the blood NOT_TRANSLATED +en An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes HP:0012726 IAO:0000115 nl An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes NOT_TRANSLATED +en An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells HP:0031401 IAO:0000115 nl An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells NOT_TRANSLATED +en An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells HP:0020113 IAO:0000115 nl An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells NOT_TRANSLATED +en An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0025624 IAO:0000115 nl An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An abnormally decreased proportion of naive T cells relative to the total number of T cells HP:0031397 IAO:0000115 nl An abnormally decreased proportion of naive T cells relative to the total number of T cells NOT_TRANSLATED +en An abnormally decreased size of the pituitary gland HP:0012506 IAO:0000115 nl An abnormally decreased size of the pituitary gland NOT_TRANSLATED +en An abnormally decreased sodium concentration in the blood HP:0002902 IAO:0000115 nl An abnormally decreased sodium concentration in the blood NOT_TRANSLATED +en An abnormally decreased sodium concentration in the urine HP:0012604 IAO:0000115 nl An abnormally decreased sodium concentration in the urine NOT_TRANSLATED +en An abnormally elevated amount of alpha1-antitrypsin in the feces HP:0031686 IAO:0000115 nl An abnormally elevated amount of alpha1-antitrypsin in the feces NOT_TRANSLATED +en An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection HP:0025639 IAO:0000115 nl An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection NOT_TRANSLATED +en An abnormally elevated blood pressure in the circulation of the pulmonary artery HP:0004890 IAO:0000115 nl An abnormally elevated blood pressure in the circulation of the pulmonary artery NOT_TRANSLATED +en An abnormally elevated concentration od mead acid in the blood circulation HP:0020148 IAO:0000115 nl An abnormally elevated concentration od mead acid in the blood circulation NOT_TRANSLATED +en An abnormally elevated concentration of 11-deoxycortisol in the urine HP:0032329 IAO:0000115 nl An abnormally elevated concentration of 11-deoxycortisol in the urine NOT_TRANSLATED +en An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation HP:0020200 IAO:0000115 nl An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation NOT_TRANSLATED +en An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration HP:0032254 IAO:0000115 nl An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration NOT_TRANSLATED +en An abnormally elevated concentration of corticosterone in the blood HP:0032362 IAO:0000115 nl An abnormally elevated concentration of corticosterone in the blood NOT_TRANSLATED +en An abnormally elevated concentration of globulins in the blood HP:0032311 IAO:0000115 nl An abnormally elevated concentration of globulins in the blood NOT_TRANSLATED +en An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation HP:0034184 IAO:0000115 nl An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation NOT_TRANSLATED +en An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation HP:0031901 IAO:0000115 nl An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation NOT_TRANSLATED +en An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine HP:0032330 IAO:0000115 nl An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine NOT_TRANSLATED +en An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine HP:0032331 IAO:0000115 nl An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine NOT_TRANSLATED +en An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization HP:0034074 IAO:0000115 nl An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypermineralization NOT_TRANSLATED +en An abnormally elevated number of lymph nodes in an anatomical region HP:0032536 IAO:0000115 nl An abnormally elevated number of lymph nodes in an anatomical region NOT_TRANSLATED +en An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy HP:0011436 IAO:0000115 nl An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy NOT_TRANSLATED +en An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high HP:0410391 IAO:0000115 nl An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED +en An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high HP:0410392 IAO:0000115 nl An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED +en An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410393 IAO:0000115 nl An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410394 IAO:0000115 nl An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells HP:0031514 IAO:0000115 nl An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells NOT_TRANSLATED +en An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood HP:0032184 IAO:0000115 nl An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood NOT_TRANSLATED +en An abnormally elevated total hemolytic complement activity in the circulation HP:0031905 IAO:0000115 nl An abnormally elevated total hemolytic complement activity in the circulation NOT_TRANSLATED +en An abnormally flat form of the proximal epiphysis of the radius HP:0005004 IAO:0000115 nl An abnormally flat form of the proximal epiphysis of the radius NOT_TRANSLATED +en An abnormally flat sella turcica HP:0100857 IAO:0000115 nl An abnormally flat sella turcica NOT_TRANSLATED +en An abnormally flattened femoral head HP:0008812 IAO:0000115 nl An abnormally flattened femoral head NOT_TRANSLATED +en An abnormally heightened sensitivity to loud sounds HP:0002183 IAO:0000115 nl An abnormally heightened sensitivity to loud sounds NOT_TRANSLATED +en An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test HP:0031280 IAO:0000115 nl An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test NOT_TRANSLATED +en An abnormally high blood pH (usually defined as 7.41 or above) HP:0032369 IAO:0000115 nl An abnormally high blood pH (usually defined as 7.41 or above) NOT_TRANSLATED +en An abnormally high concentration in the circulation of alanine aminotransferase (ALT) HP:0031964 IAO:0000115 nl An abnormally high concentration in the circulation of alanine aminotransferase (ALT) NOT_TRANSLATED +en An abnormally high concentration in the circulation of aspartate aminotransferase (AST) HP:0031956 IAO:0000115 nl An abnormally high concentration in the circulation of aspartate aminotransferase (AST) NOT_TRANSLATED +en An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation HP:0020180 IAO:0000115 nl An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation NOT_TRANSLATED +en An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age HP:0011433 IAO:0000115 nl An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age NOT_TRANSLATED +en An abnormally high concentration of myristoleate in the blood circulation HP:0025628 IAO:0000115 nl An abnormally high concentration of myristoleate in the blood circulation NOT_TRANSLATED +en An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid) HP:0025627 IAO:0000115 nl An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid) NOT_TRANSLATED +en An abnormally high concentration of oleic acid (oleate) in the blood circulation HP:0025626 IAO:0000115 nl An abnormally high concentration of oleic acid (oleate) in the blood circulation NOT_TRANSLATED +en An abnormally high concentration of trypsinogen in the blood circulation HP:0032493 IAO:0000115 nl An abnormally high concentration of trypsinogen in the blood circulation NOT_TRANSLATED +en An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy HP:0003557 IAO:0000115 nl An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy NOT_TRANSLATED +en An abnormally high increase in insulin levels following a glucagon stimulation test HP:0031084 IAO:0000115 nl An abnormally high increase in insulin levels following a glucagon stimulation test NOT_TRANSLATED +en An abnormally high level of blood oxygen HP:0012419 IAO:0000115 nl An abnormally high level of blood oxygen NOT_TRANSLATED +en An abnormally high level of blood oxygen in the cord blood HP:0410212 IAO:0000115 nl An abnormally high level of blood oxygen in the cord blood NOT_TRANSLATED +en An abnormally high level of uric acid in the blood HP:0002149 IAO:0000115 nl An abnormally high level of uric acid in the blood NOT_TRANSLATED +en An abnormally high level of uric acid in the urine HP:0003149 IAO:0000115 nl An abnormally high level of uric acid in the urine NOT_TRANSLATED +en An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies HP:0025619 IAO:0000115 nl An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies NOT_TRANSLATED +en An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine HP:0033359 IAO:0000115 nl An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine NOT_TRANSLATED +en An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) HP:0031962 IAO:0000115 nl An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) NOT_TRANSLATED +en An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility HP:0010648 IAO:0000115 nl An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility NOT_TRANSLATED +en An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal HP:0031534 IAO:0000115 nl An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal NOT_TRANSLATED +en An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms HP:0000841 IAO:0000115 nl An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms NOT_TRANSLATED +en An abnormally increased amount of 3-methylcrotonylglycine in the urine HP:0033596 IAO:0000115 nl An abnormally increased amount of 3-methylcrotonylglycine in the urine NOT_TRANSLATED +en An abnormally increased amount of 7-biopterin in the urine HP:0033594 IAO:0000115 nl An abnormally increased amount of 7-biopterin in the urine NOT_TRANSLATED +en An abnormally increased amount of kynurenine in the urine HP:0034461 IAO:0000115 nl An abnormally increased amount of kynurenine in the urine NOT_TRANSLATED +en An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid HP:0032638 IAO:0000115 nl An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid NOT_TRANSLATED +en An abnormally increased amount of phenylpyruvic acid in the urine HP:0034458 IAO:0000115 nl An abnormally increased amount of phenylpyruvic acid in the urine NOT_TRANSLATED +en An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes HP:0031603 IAO:0000115 nl An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes NOT_TRANSLATED +en An abnormally increased calcium concentration in the blood HP:0003072 IAO:0000115 nl An abnormally increased calcium concentration in the blood NOT_TRANSLATED +en An abnormally increased chloride concentration in the blood HP:0011423 IAO:0000115 nl An abnormally increased chloride concentration in the blood NOT_TRANSLATED +en An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation HP:0033153 IAO:0000115 nl An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine HP:0045045 IAO:0000115 nl An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED +en An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation HP:0033436 IAO:0000115 nl An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation HP:0033302 IAO:0000115 nl An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF) HP:0034462 IAO:0000115 nl An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation HP:0032273 IAO:0000115 nl An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF) HP:0032274 IAO:0000115 nl An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en An abnormally increased concentration of glycolate in the blood circulation HP:0025641 IAO:0000115 nl An abnormally increased concentration of glycolate in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of hepcidin in the blood circulation HP:0031877 IAO:0000115 nl An abnormally increased concentration of hepcidin in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of interleukin 17A in the blood circulation HP:0034178 IAO:0000115 nl An abnormally increased concentration of interleukin 17A in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of interleukin 21 in the blood circulation HP:0034166 IAO:0000115 nl An abnormally increased concentration of interleukin 21 in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of interleukin 22 in the blood circulation HP:0034169 IAO:0000115 nl An abnormally increased concentration of interleukin 22 in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of interleukin 23 in the blood circulation HP:0034172 IAO:0000115 nl An abnormally increased concentration of interleukin 23 in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of interleukin 27 in the blood circulation HP:0034175 IAO:0000115 nl An abnormally increased concentration of interleukin 27 in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of the IgG1 subtype in the blood circulation HP:0032298 IAO:0000115 nl An abnormally increased concentration of the IgG1 subtype in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of the IgG2 subtype in the blood circulation HP:0032299 IAO:0000115 nl An abnormally increased concentration of the IgG2 subtype in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of the IgG3 subtype in the blood circulation HP:0032297 IAO:0000115 nl An abnormally increased concentration of the IgG3 subtype in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of the IgG4 subtype in the blood circulation HP:0032300 IAO:0000115 nl An abnormally increased concentration of the IgG4 subtype in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of transferrin in the blood circulation HP:0032386 IAO:0000115 nl An abnormally increased concentration of transferrin in the blood circulation NOT_TRANSLATED +en An abnormally increased concentration of vitamin B6 in the blood circulation HP:0032477 IAO:0000115 nl An abnormally increased concentration of vitamin B6 in the blood circulation NOT_TRANSLATED +en An abnormally increased count of basophils per volume in the blood circulation HP:0031807 IAO:0000115 nl An abnormally increased count of basophils per volume in the blood circulation NOT_TRANSLATED +en An abnormally increased degree of bleeding following a superfical injury to the surface of the skin HP:0030138 IAO:0000115 nl An abnormally increased degree of bleeding following a superfical injury to the surface of the skin NOT_TRANSLATED +en An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate HP:0011864 IAO:0000115 nl An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate NOT_TRANSLATED +en An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate HP:0003491 IAO:0000115 nl An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate NOT_TRANSLATED +en An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds HP:0020193 IAO:0000115 nl An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds NOT_TRANSLATED +en An abnormally increased extension of the knee joint, so that the knee can bend backwards HP:0002816 IAO:0000115 nl An abnormally increased extension of the knee joint, so that the knee can bend backwards NOT_TRANSLATED +en An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart HP:0040194 IAO:0000115 nl An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart NOT_TRANSLATED +en An abnormally increased height of the forehead HP:0000348 IAO:0000115 nl An abnormally increased height of the forehead NOT_TRANSLATED +en An abnormally increased length of the metacarpal bones HP:0010493 IAO:0000115 nl An abnormally increased length of the metacarpal bones NOT_TRANSLATED +en An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine HP:0033301 IAO:0000115 nl An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine NOT_TRANSLATED +en An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine HP:0003344 IAO:0000115 nl An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine NOT_TRANSLATED +en An abnormally increased level of aconitic acid in the urine HP:0033101 IAO:0000115 nl An abnormally increased level of aconitic acid in the urine NOT_TRANSLATED +en An abnormally increased level of alkaline phosphatase, intestinal type in the blood HP:0010681 IAO:0000115 nl An abnormally increased level of alkaline phosphatase, intestinal type in the blood NOT_TRANSLATED +en An abnormally increased level of alkaline phosphatase, placental type in the blood HP:0010682 IAO:0000115 nl An abnormally increased level of alkaline phosphatase, placental type in the blood NOT_TRANSLATED +en An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood HP:0010679 IAO:0000115 nl An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED +en An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2 HP:0033110 IAO:0000115 nl An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2 NOT_TRANSLATED +en An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood HP:0010639 IAO:0000115 nl An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED +en An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant HP:0005413 IAO:0000115 nl An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant NOT_TRANSLATED +en An abnormally increased level of glutathione in the blood circulation HP:0034456 IAO:0000115 nl An abnormally increased level of glutathione in the blood circulation NOT_TRANSLATED +en An abnormally increased level of immunoglobulin A in blood HP:0003261 IAO:0000115 nl An abnormally increased level of immunoglobulin A in blood NOT_TRANSLATED +en An abnormally increased level of immunoglobulin D in blood HP:0410246 IAO:0000115 nl An abnormally increased level of immunoglobulin D in blood NOT_TRANSLATED +en An abnormally increased level of immunoglobulin G in blood HP:0003237 IAO:0000115 nl An abnormally increased level of immunoglobulin G in blood NOT_TRANSLATED +en An abnormally increased level of immunoglobulin M in blood HP:0003496 IAO:0000115 nl An abnormally increased level of immunoglobulin M in blood NOT_TRANSLATED +en An abnormally increased level of immunoglobulin against hepatitis A virus in the blood HP:0410367 IAO:0000115 nl An abnormally increased level of immunoglobulin against hepatitis A virus in the blood NOT_TRANSLATED +en An abnormally increased level of immunoglobulin against hepatitis B virus in the blood HP:0410369 IAO:0000115 nl An abnormally increased level of immunoglobulin against hepatitis B virus in the blood NOT_TRANSLATED +en An abnormally increased level of immunoglobulin against hepatitis C virus in the blood HP:0410371 IAO:0000115 nl An abnormally increased level of immunoglobulin against hepatitis C virus in the blood NOT_TRANSLATED +en An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood HP:0010680 IAO:0000115 nl An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED +en An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood HP:0010638 IAO:0000115 nl An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED +en An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine HP:0033356 IAO:0000115 nl An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine NOT_TRANSLATED +en An abnormally increased level of tyrosine in the urine HP:0033091 IAO:0000115 nl An abnormally increased level of tyrosine in the urine NOT_TRANSLATED +en An abnormally increased magnesium concentration in the blood HP:0002918 IAO:0000115 nl An abnormally increased magnesium concentration in the blood NOT_TRANSLATED +en An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk HP:0001332 IAO:0000115 nl An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk NOT_TRANSLATED +en An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 HP:0032239 IAO:0000115 nl An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2 NOT_TRANSLATED +en An abnormally increased number of immature neutrophils in the peripheral blood circulation HP:0032236 IAO:0000115 nl An abnormally increased number of immature neutrophils in the peripheral blood circulation NOT_TRANSLATED +en An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 HP:0032238 IAO:0000115 nl An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1 NOT_TRANSLATED +en An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology HP:0003548 IAO:0000115 nl An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology NOT_TRANSLATED +en An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 HP:0032237 IAO:0000115 nl An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1 NOT_TRANSLATED +en An abnormally increased number of plasma cells in tissues, exudates, or blood HP:0030150 IAO:0000115 nl An abnormally increased number of plasma cells in tissues, exudates, or blood NOT_TRANSLATED +en An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time HP:0012212 IAO:0000115 nl An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time NOT_TRANSLATED +en An abnormally increased overall level of immunoglobulin E in blood HP:0003212 IAO:0000115 nl An abnormally increased overall level of immunoglobulin E in blood NOT_TRANSLATED +en An abnormally increased perspiration on palms and soles HP:0007410 IAO:0000115 nl An abnormally increased perspiration on palms and soles NOT_TRANSLATED +en An abnormally increased phosphate concentration in the blood HP:0002905 IAO:0000115 nl An abnormally increased phosphate concentration in the blood NOT_TRANSLATED +en An abnormally increased potassium concentration in the blood HP:0002153 IAO:0000115 nl An abnormally increased potassium concentration in the blood NOT_TRANSLATED +en An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells HP:0002851 IAO:0000115 nl An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells NOT_TRANSLATED +en An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells HP:0020112 IAO:0000115 nl An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells NOT_TRANSLATED +en An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype HP:0025625 IAO:0000115 nl An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype NOT_TRANSLATED +en An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells HP:0410376 IAO:0000115 nl An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells NOT_TRANSLATED +en An abnormally increased proportion of naive T cells relative to the total number of T cells HP:0031398 IAO:0000115 nl An abnormally increased proportion of naive T cells relative to the total number of T cells NOT_TRANSLATED +en An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei HP:0031237 IAO:0000115 nl An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei NOT_TRANSLATED +en An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body HP:0005616 IAO:0000115 nl An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body NOT_TRANSLATED +en An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation HP:0034289 IAO:0000115 nl An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation NOT_TRANSLATED +en An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen HP:0032439 IAO:0000115 nl An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen NOT_TRANSLATED +en An abnormally increased sensitivity to the effects of ionizing radiation HP:0011133 IAO:0000115 nl An abnormally increased sensitivity to the effects of ionizing radiation NOT_TRANSLATED +en An abnormally increased size of the cerebellum compared to other brain structures HP:0012081 IAO:0000115 nl An abnormally increased size of the cerebellum compared to other brain structures NOT_TRANSLATED +en An abnormally increased size of the pituitary gland HP:0012505 IAO:0000115 nl An abnormally increased size of the pituitary gland NOT_TRANSLATED +en An abnormally increased sodium concentration in the blood HP:0003228 IAO:0000115 nl An abnormally increased sodium concentration in the blood NOT_TRANSLATED +en An abnormally increased sodium concentration in the cytosol HP:0003575 IAO:0000115 nl An abnormally increased sodium concentration in the cytosol NOT_TRANSLATED +en An abnormally increased sodium concentration in the urine in the presence of hyponatremia HP:0012606 IAO:0000115 nl An abnormally increased sodium concentration in the urine in the presence of hyponatremia NOT_TRANSLATED +en An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture HP:0002659 IAO:0000115 nl An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture NOT_TRANSLATED +en An abnormally increased tendency towards muscle fatigue induced by physical exercise HP:0009020 IAO:0000115 nl An abnormally increased tendency towards muscle fatigue induced by physical exercise NOT_TRANSLATED +en An abnormally increased thickness of a leaflet of the aortic valve HP:0031568 IAO:0000115 nl An abnormally increased thickness of a leaflet of the aortic valve NOT_TRANSLATED +en An abnormally increased width of the cranial fontanelles and sutures HP:0004492 IAO:0000115 nl An abnormally increased width of the cranial fontanelles and sutures NOT_TRANSLATED +en An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure) HP:0010537 IAO:0000115 nl An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure) NOT_TRANSLATED +en An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person HP:4000078 IAO:0000115 nl An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person NOT_TRANSLATED +en An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava HP:0031591 IAO:0000115 nl An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava NOT_TRANSLATED +en An abnormally low blood pH (usually defined as less than 7.35) HP:0032368 IAO:0000115 nl An abnormally low blood pH (usually defined as less than 7.35) NOT_TRANSLATED +en An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state HP:0020181 IAO:0000115 nl An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state NOT_TRANSLATED +en An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age HP:0011434 IAO:0000115 nl An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age NOT_TRANSLATED +en An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age HP:0011435 IAO:0000115 nl An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age NOT_TRANSLATED +en An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age HP:0010570 IAO:0000115 nl An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age NOT_TRANSLATED +en An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age HP:0008073 IAO:0000115 nl An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age NOT_TRANSLATED +en An abnormally low concentration of urea nitrogen in the blood HP:0031969 IAO:0000115 nl An abnormally low concentration of urea nitrogen in the blood NOT_TRANSLATED +en An abnormally low count of T cells HP:0005403 IAO:0000115 nl An abnormally low count of T cells NOT_TRANSLATED +en An abnormally low level of blood oxygen HP:0012418 IAO:0000115 nl An abnormally low level of blood oxygen NOT_TRANSLATED +en An abnormally low level of blood oxygen in the cord blood HP:0410213 IAO:0000115 nl An abnormally low level of blood oxygen in the cord blood NOT_TRANSLATED +en An abnormally low level of uric acid in the blood HP:0003537 IAO:0000115 nl An abnormally low level of uric acid in the blood NOT_TRANSLATED +en An abnormally low number of neutrophils in the peripheral blood HP:0001875 IAO:0000115 nl An abnormally low number of neutrophils in the peripheral blood NOT_TRANSLATED +en An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies HP:0025618 IAO:0000115 nl An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies NOT_TRANSLATED +en An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography HP:0033773 IAO:0000115 nl An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography NOT_TRANSLATED +en An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine HP:0003158 IAO:0000115 nl An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine NOT_TRANSLATED +en An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) HP:0031963 IAO:0000115 nl An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration) NOT_TRANSLATED +en An abnormally low volume of the white matter of the brain HP:0034295 IAO:0000115 nl An abnormally low volume of the white matter of the brain NOT_TRANSLATED +en An abnormally low-pitched voice HP:0010300 IAO:0000115 nl An abnormally low-pitched voice NOT_TRANSLATED +en An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination HP:0006825 IAO:0000115 nl An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination NOT_TRANSLATED +en An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue HP:0003688 IAO:0000115 nl An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue NOT_TRANSLATED +en An abnormally reduced amount of adipose tissue in the abdominal cavity HP:0025128 IAO:0000115 nl An abnormally reduced amount of adipose tissue in the abdominal cavity NOT_TRANSLATED +en An abnormally reduced amount of adipose tissue in the thoracic cavity HP:0003809 IAO:0000115 nl An abnormally reduced amount of adipose tissue in the thoracic cavity NOT_TRANSLATED +en An abnormally reduced amount of creatinine in the blood HP:0012101 IAO:0000115 nl An abnormally reduced amount of creatinine in the blood NOT_TRANSLATED +en An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine HP:0033445 IAO:0000115 nl An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED +en An abnormally reduced concentration of corticosterone in the blood HP:0032363 IAO:0000115 nl An abnormally reduced concentration of corticosterone in the blood NOT_TRANSLATED +en An abnormally reduced concentration of globulins in the blood HP:0032312 IAO:0000115 nl An abnormally reduced concentration of globulins in the blood NOT_TRANSLATED +en An abnormally reduced concentration of glycine in the blood HP:0012277 IAO:0000115 nl An abnormally reduced concentration of glycine in the blood NOT_TRANSLATED +en An abnormally reduced concentration of hepcidin in the blood circulation HP:0031876 IAO:0000115 nl An abnormally reduced concentration of hepcidin in the blood circulation NOT_TRANSLATED +en An abnormally reduced concentration of selenium in the blood circulation HP:0033192 IAO:0000115 nl An abnormally reduced concentration of selenium in the blood circulation NOT_TRANSLATED +en An abnormally reduced concentration of urobilinogen in the urine HP:0032473 IAO:0000115 nl An abnormally reduced concentration of urobilinogen in the urine NOT_TRANSLATED +en An abnormally reduced count of basophils per volume in the blood circulation HP:0031808 IAO:0000115 nl An abnormally reduced count of basophils per volume in the blood circulation NOT_TRANSLATED +en An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms HP:0005906 IAO:0000115 nl An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms NOT_TRANSLATED +en An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) HP:0008819 IAO:0000115 nl An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED +en An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean HP:0040195 IAO:0000115 nl An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean NOT_TRANSLATED +en An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme HP:0041044 IAO:0000115 nl An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme NOT_TRANSLATED +en An abnormally reduced level of alkaline phosphatase, intestinal type in the blood HP:0010687 IAO:0000115 nl An abnormally reduced level of alkaline phosphatase, intestinal type in the blood NOT_TRANSLATED +en An abnormally reduced level of alkaline phosphatase, placental type in the blood HP:0010688 IAO:0000115 nl An abnormally reduced level of alkaline phosphatase, placental type in the blood NOT_TRANSLATED +en An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood HP:0010683 IAO:0000115 nl An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood NOT_TRANSLATED +en An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood HP:0010684 IAO:0000115 nl An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood NOT_TRANSLATED +en An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood HP:0010685 IAO:0000115 nl An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood NOT_TRANSLATED +en An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood HP:0010686 IAO:0000115 nl An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood NOT_TRANSLATED +en An abnormally reduced number of granulocytes in the blood HP:0001913 IAO:0000115 nl An abnormally reduced number of granulocytes in the blood NOT_TRANSLATED +en An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood HP:0032183 IAO:0000115 nl An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood NOT_TRANSLATED +en An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells HP:0410378 IAO:0000115 nl An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells NOT_TRANSLATED +en An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells HP:0410377 IAO:0000115 nl An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells NOT_TRANSLATED +en An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids HP:0008000 IAO:0000115 nl An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids NOT_TRANSLATED +en An abnormally reduced total hemolytic complement activity in the circulation HP:0031906 IAO:0000115 nl An abnormally reduced total hemolytic complement activity in the circulation NOT_TRANSLATED +en An abnormally round shape of the middle phalanx of the finger HP:0005844 IAO:0000115 nl An abnormally round shape of the middle phalanx of the finger NOT_TRANSLATED +en An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) HP:0100864 IAO:0000115 nl An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED +en An abnormally slow velocity of horizontal saccadic eye movements HP:0007885 IAO:0000115 nl An abnormally slow velocity of horizontal saccadic eye movements NOT_TRANSLATED +en An abnormally slow velocity of the saccadic eye movements HP:0000514 IAO:0000115 nl An abnormally slow velocity of the saccadic eye movements NOT_TRANSLATED +en An abnormally small and flat configuration of the posterior cranial fossa HP:0005759 IAO:0000115 nl An abnormally small and flat configuration of the posterior cranial fossa NOT_TRANSLATED +en An abnormally small sella turcica HP:0010538 IAO:0000115 nl An abnormally small sella turcica NOT_TRANSLATED +en An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure HP:0003278 IAO:0000115 nl An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure NOT_TRANSLATED +en An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved HP:0006587 IAO:0000115 nl An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved NOT_TRANSLATED +en An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration) HP:0033725 IAO:0000115 nl An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration) NOT_TRANSLATED +en An abnormally wavy surface or edge of the clavicles HP:0010560 IAO:0000115 nl An abnormally wavy surface or edge of the clavicles NOT_TRANSLATED +en An abnormally wavy surface or edge of the ribs HP:0010561 IAO:0000115 nl An abnormally wavy surface or edge of the ribs NOT_TRANSLATED +en An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) HP:0006429 IAO:0000115 nl An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft) NOT_TRANSLATED +en An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus HP:0002034 IAO:0000115 nl An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus NOT_TRANSLATED +en An abormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw HP:0034337 IAO:0000115 nl An abormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw NOT_TRANSLATED +en An above normal level of saturation of serum transferrin with iron HP:0012463 IAO:0000115 nl An above normal level of saturation of serum transferrin with iron NOT_TRANSLATED +en An abrupt loss of heart function HP:0001695 IAO:0000115 nl An abrupt loss of heart function NOT_TRANSLATED +en An abscess located at the junction of the anal canal and the rectum HP:0033150 IAO:0000115 nl An abscess located at the junction of the anal canal and the rectum NOT_TRANSLATED +en An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms HP:0025616 IAO:0000115 nl An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms NOT_TRANSLATED +en An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently HP:0025181 IAO:0000115 nl An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently NOT_TRANSLATED +en An absence of low-density lipoprotein cholesterol in the blood HP:0008181 IAO:0000115 nl An absence of low-density lipoprotein cholesterol in the blood NOT_TRANSLATED +en An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity HP:0002723 IAO:0000115 nl An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity NOT_TRANSLATED +en An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life HP:4000085 IAO:0000115 nl An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life NOT_TRANSLATED +en An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure HP:0011149 IAO:0000115 nl An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure NOT_TRANSLATED +en An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye HP:0001133 IAO:0000115 nl An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye NOT_TRANSLATED +en An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract HP:0030740 IAO:0000115 nl An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract NOT_TRANSLATED +en An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy HP:0030368 IAO:0000115 nl An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy NOT_TRANSLATED +en An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint HP:0031010 IAO:0000115 nl An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint NOT_TRANSLATED +en An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance HP:0001747 IAO:0000115 nl An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance NOT_TRANSLATED +en An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation HP:0025240 IAO:0000115 nl An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation NOT_TRANSLATED +en An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane HP:0025244 IAO:0000115 nl An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall HP:0031301 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery HP:0031314 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery HP:0031309 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery HP:0001717 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta HP:0031313 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial) HP:0031306 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial) NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery HP:0031310 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery HP:0031315 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery HP:0031307 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery HP:0031311 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta HP:0004962 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery HP:0031308 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery HP:0031303 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery HP:0031304 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg HP:0031302 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg NOT_TRANSLATED +en An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery HP:0031305 IAO:0000115 nl An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery NOT_TRANSLATED +en An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography HP:0031226 IAO:0000115 nl An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography NOT_TRANSLATED +en An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage HP:0025464 IAO:0000115 nl An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage NOT_TRANSLATED +en An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber HP:0034509 IAO:0000115 nl An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber NOT_TRANSLATED +en An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write HP:0002381 IAO:0000115 nl An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write NOT_TRANSLATED +en An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read HP:0010523 IAO:0000115 nl An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read NOT_TRANSLATED +en An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders HP:0100601 IAO:0000115 nl An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders NOT_TRANSLATED +en An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum) HP:0100282 IAO:0000115 nl An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum) NOT_TRANSLATED +en An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates HP:0007634 IAO:0000115 nl An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates NOT_TRANSLATED +en An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications HP:0010553 IAO:0000115 nl An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications NOT_TRANSLATED +en An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract HP:0011952 IAO:0000115 nl An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract NOT_TRANSLATED +en An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed HP:0011880 IAO:0000115 nl An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed NOT_TRANSLATED +en An acute form of hepatic steatosis HP:0006573 IAO:0000115 nl An acute form of hepatic steatosis NOT_TRANSLATED +en An acute form of rhabdomyolysis HP:0008942 IAO:0000115 nl An acute form of rhabdomyolysis NOT_TRANSLATED +en An acute form of sinusitis HP:0000255 IAO:0000115 nl Een acute vorm van sinusitis CANDIDATE +en An acute hypersensitivity reaction due to exposure to a previously encountered antigen HP:0100845 IAO:0000115 nl An acute hypersensitivity reaction due to exposure to a previously encountered antigen NOT_TRANSLATED +en An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors HP:0004820 IAO:0000115 nl An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors NOT_TRANSLATED +en An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point HP:0033700 IAO:0000115 nl An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point NOT_TRANSLATED +en An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes HP:0030005 IAO:0000115 nl An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes NOT_TRANSLATED +en An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling HP:0010606 IAO:0000115 nl An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling NOT_TRANSLATED +en An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol HP:0030955 IAO:0000115 nl An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol NOT_TRANSLATED +en An additional cusp located in the middle of the occlusal surface HP:0033778 IAO:0000115 nl An additional cusp located in the middle of the occlusal surface NOT_TRANSLATED +en An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia HP:0033770 IAO:0000115 nl An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia NOT_TRANSLATED +en An adenocarcinoma arising in the vulva HP:0030420 IAO:0000115 nl An adenocarcinoma arising in the vulva NOT_TRANSLATED +en An adenoma carcinoma that originates in the anal canal HP:0030439 IAO:0000115 nl An adenoma carcinoma that originates in the anal canal NOT_TRANSLATED +en An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound HP:0025113 IAO:0000115 nl An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound NOT_TRANSLATED +en An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe HP:0025285 IAO:0000115 nl An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe NOT_TRANSLATED +en An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen HP:0033292 IAO:0000115 nl An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen NOT_TRANSLATED +en An aggressive granulosa cell tumor that arises from the ovary HP:0031920 IAO:0000115 nl An aggressive granulosa cell tumor that arises from the ovary NOT_TRANSLATED +en An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia HP:0034401 IAO:0000115 nl An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia NOT_TRANSLATED +en An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma) HP:0033662 IAO:0000115 nl An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma) NOT_TRANSLATED +en An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer HP:0033661 IAO:0000115 nl An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer NOT_TRANSLATED +en An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction HP:0012395 IAO:0000115 nl An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction NOT_TRANSLATED +en An allergy is an immune response or reaction to substances that are usually not harmful HP:0012393 IAO:0000115 nl An allergy is an immune response or reaction to substances that are usually not harmful NOT_TRANSLATED +en An alteration of the color of the lip to take on a violet color. This term does not include cyanosis HP:0025119 IAO:0000115 nl An alteration of the color of the lip to take on a violet color. This term does not include cyanosis NOT_TRANSLATED +en An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour HP:0006369 IAO:0000115 nl An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour NOT_TRANSLATED +en An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance HP:0010582 IAO:0000115 nl An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance NOT_TRANSLATED +en An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme HP:0012379 IAO:0000115 nl An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme NOT_TRANSLATED +en An altered ability of the kidneys to void urine and/or specific substances HP:0011036 IAO:0000115 nl An altered ability of the kidneys to void urine and/or specific substances NOT_TRANSLATED +en An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme HP:0030272 IAO:0000115 nl An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme NOT_TRANSLATED +en An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable HP:0025254 IAO:0000115 nl An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable NOT_TRANSLATED +en An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis HP:0004785 IAO:0000115 nl An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis NOT_TRANSLATED +en An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery HP:0004937 IAO:0000115 nl An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery NOT_TRANSLATED +en An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe) HP:0030084 IAO:0000115 nl An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe) NOT_TRANSLATED +en An anomalous (adventitious) sound produced by the breathing process HP:0030829 IAO:0000115 nl An anomalous (adventitious) sound produced by the breathing process NOT_TRANSLATED +en An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve HP:0030090 IAO:0000115 nl An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve NOT_TRANSLATED +en An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue HP:0030089 IAO:0000115 nl An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue NOT_TRANSLATED +en An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43 HP:0410023 IAO:0000115 nl An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43 NOT_TRANSLATED +en An anomalous build up of copper (Cu) in the brain HP:0012676 IAO:0000115 nl An anomalous build up of copper (Cu) in the brain NOT_TRANSLATED +en An anomalous build up of copper (Cu) in the liver HP:0025321 IAO:0000115 nl An anomalous build up of copper (Cu) in the liver NOT_TRANSLATED +en An anomalous build up of iron (Fe) in the substantia nigra HP:0012678 IAO:0000115 nl An anomalous build up of iron (Fe) in the substantia nigra NOT_TRANSLATED +en An anomalous concentration of testosterone in the blood HP:0030087 IAO:0000115 nl An anomalous concentration of testosterone in the blood NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries HP:0100026 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain HP:0002408 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon HP:0031345 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum HP:0031342 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract HP:0002629 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum HP:0031343 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis HP:0031344 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum HP:0031346 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach HP:0031341 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach NOT_TRANSLATED +en An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus HP:0031347 IAO:0000115 nl An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus NOT_TRANSLATED +en An anomalous finding in the examination of the urine for cells HP:0012614 IAO:0000115 nl An anomalous finding in the examination of the urine for cells NOT_TRANSLATED +en An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation HP:0030352 IAO:0000115 nl An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED +en An anomalous location and arrangement of platelet alpha granules HP:0012525 IAO:0000115 nl An anomalous location and arrangement of platelet alpha granules NOT_TRANSLATED +en An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism) HP:0031564 IAO:0000115 nl An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism) NOT_TRANSLATED +en An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum HP:0004961 IAO:0000115 nl An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum NOT_TRANSLATED +en An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle) HP:0002826 IAO:0000115 nl An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle) NOT_TRANSLATED +en An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light HP:0030467 IAO:0000115 nl An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light NOT_TRANSLATED +en An anomalous response to a test that is designed to probe the function of the endocrine system HP:0031073 IAO:0000115 nl An anomalous response to a test that is designed to probe the function of the endocrine system NOT_TRANSLATED +en An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors HP:0031083 IAO:0000115 nl An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors NOT_TRANSLATED +en An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals HP:0031077 IAO:0000115 nl An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals NOT_TRANSLATED +en An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH) HP:0031080 IAO:0000115 nl An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH) NOT_TRANSLATED +en An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level HP:0031075 IAO:0000115 nl An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level NOT_TRANSLATED +en An anomalous structure of an artery located in the kidney HP:0033836 IAO:0000115 nl An anomalous structure of an artery located in the kidney NOT_TRANSLATED +en An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones HP:0030313 IAO:0000115 nl An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones NOT_TRANSLATED +en An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side HP:0005621 IAO:0000115 nl An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side NOT_TRANSLATED +en An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity HP:0012658 IAO:0000115 nl An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity NOT_TRANSLATED +en An anomaly identified by motor evoked potentials (MEPs) in the arm HP:0012897 IAO:0000115 nl An anomaly identified by motor evoked potentials (MEPs) in the arm NOT_TRANSLATED +en An anomaly identified by motor evoked potentials (MEPs) in the leg HP:0012898 IAO:0000115 nl An anomaly identified by motor evoked potentials (MEPs) in the leg NOT_TRANSLATED +en An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways HP:0012896 IAO:0000115 nl An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways NOT_TRANSLATED +en An anomaly in platelet form, ultrastructure, or intracellular organelles HP:0011875 IAO:0000115 nl An anomaly in platelet form, ultrastructure, or intracellular organelles NOT_TRANSLATED +en An anomaly in the ability to discriminate between or recognize colors HP:0000551 IAO:0000115 nl An anomaly in the ability to discriminate between or recognize colors NOT_TRANSLATED +en An anomaly in the ability to perceive and distinguish scents (odors) HP:0004408 IAO:0000115 nl An anomaly in the ability to perceive and distinguish scents (odors) NOT_TRANSLATED +en An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye HP:0012632 IAO:0000115 nl An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye NOT_TRANSLATED +en An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland HP:0012689 IAO:0000115 nl An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland NOT_TRANSLATED +en An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone HP:0030347 IAO:0000115 nl An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone NOT_TRANSLATED +en An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system HP:0030191 IAO:0000115 nl An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system NOT_TRANSLATED +en An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process HP:0012535 IAO:0000115 nl An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process NOT_TRANSLATED +en An anomaly in the development of the embryo in a stage prior to implantation HP:0033335 IAO:0000115 nl An anomaly in the development of the embryo in a stage prior to implantation NOT_TRANSLATED +en An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm HP:0033334 IAO:0000115 nl An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm NOT_TRANSLATED +en An anomaly in the level of glucose-6-phosphate dehydrogenase HP:0410176 IAO:0000115 nl An anomaly in the level of glucose-6-phosphate dehydrogenase NOT_TRANSLATED +en An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot HP:0410180 IAO:0000115 nl An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot NOT_TRANSLATED +en An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes HP:0410183 IAO:0000115 nl An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED +en An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells HP:0410184 IAO:0000115 nl An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells NOT_TRANSLATED +en An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood HP:0410177 IAO:0000115 nl An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood NOT_TRANSLATED +en An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue HP:0410185 IAO:0000115 nl An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue NOT_TRANSLATED +en An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve HP:0030179 IAO:0000115 nl An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve NOT_TRANSLATED +en An anomaly in the metabolism of a vitamin HP:0100508 IAO:0000115 nl An anomaly in the metabolism of a vitamin NOT_TRANSLATED +en An anomaly in the number of macrophages HP:0030326 IAO:0000115 nl An anomaly in the number of macrophages NOT_TRANSLATED +en An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells HP:0012310 IAO:0000115 nl An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells NOT_TRANSLATED +en An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue HP:0030327 IAO:0000115 nl An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue NOT_TRANSLATED +en An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair HP:0030141 IAO:0000115 nl An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair NOT_TRANSLATED +en An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not HP:0000599 IAO:0000115 nl An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not NOT_TRANSLATED +en An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II HP:0033337 IAO:0000115 nl An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II NOT_TRANSLATED +en An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed HP:0012790 IAO:0000115 nl An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed NOT_TRANSLATED +en An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power HP:0030800 IAO:0000115 nl An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power NOT_TRANSLATED +en An anomaly in the processes involved in the maintenance of an internal equilibrium HP:0012337 IAO:0000115 nl An anomaly in the processes involved in the maintenance of an internal equilibrium NOT_TRANSLATED +en An anomaly in the surface contour of mitochondria HP:0012087 IAO:0000115 nl An anomaly in the surface contour of mitochondria NOT_TRANSLATED +en An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating HP:0031602 IAO:0000115 nl An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary nbeating NOT_TRANSLATED +en An anomaly of a finger HP:0001167 IAO:0000115 nl An anomaly of a finger NOT_TRANSLATED +en An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule HP:0012345 IAO:0000115 nl An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule NOT_TRANSLATED +en An anomaly of a growth plate of a femur HP:0006499 IAO:0000115 nl An anomaly of a growth plate of a femur NOT_TRANSLATED +en An anomaly of a metacarpophalangeal joint HP:0011911 IAO:0000115 nl An anomaly of a metacarpophalangeal joint NOT_TRANSLATED +en An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve) HP:0000301 IAO:0000115 nl An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED +en An anomaly of a phalanx of second toe HP:0010324 IAO:0000115 nl An anomaly of a phalanx of second toe NOT_TRANSLATED +en An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins HP:0012346 IAO:0000115 nl An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins NOT_TRANSLATED +en An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons HP:0031828 IAO:0000115 nl An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons NOT_TRANSLATED +en An anomaly of a toe HP:0001780 IAO:0000115 nl An anomaly of a toe NOT_TRANSLATED +en An anomaly of alpha or dense granules or platelet lysosomes HP:0011883 IAO:0000115 nl An anomaly of alpha or dense granules or platelet lysosomes NOT_TRANSLATED +en An anomaly of arterial function HP:0025323 IAO:0000115 nl An anomaly of arterial function NOT_TRANSLATED +en An anomaly of blood vessels located in the lip HP:0031486 IAO:0000115 nl An anomaly of blood vessels located in the lip NOT_TRANSLATED +en An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell HP:0012135 IAO:0000115 nl An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell NOT_TRANSLATED +en An anomaly of cellular morphology or physiology HP:0025354 IAO:0000115 nl An anomaly of cellular morphology or physiology NOT_TRANSLATED +en An anomaly of cerebral veins HP:0012480 IAO:0000115 nl An anomaly of cerebral veins NOT_TRANSLATED +en An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade HP:0012200 IAO:0000115 nl An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade NOT_TRANSLATED +en An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy HP:0031519 IAO:0000115 nl An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy NOT_TRANSLATED +en An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk HP:0005930 IAO:0000115 nl An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk NOT_TRANSLATED +en An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes HP:0012130 IAO:0000115 nl An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes NOT_TRANSLATED +en An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS) HP:0012705 IAO:0000115 nl An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An anomaly of metabolism or structure of the brain identified by imaging HP:0410263 IAO:0000115 nl An anomaly of metabolism or structure of the brain identified by imaging NOT_TRANSLATED +en An anomaly of middle phalanx of finger HP:0009833 IAO:0000115 nl An anomaly of middle phalanx of finger NOT_TRANSLATED +en An anomaly of one or more epiphyses of a limb HP:0006505 IAO:0000115 nl An anomaly of one or more epiphyses of a limb NOT_TRANSLATED +en An anomaly of one or more epiphyses of one or both legs HP:0006500 IAO:0000115 nl An anomaly of one or more epiphyses of one or both legs NOT_TRANSLATED +en An anomaly of one or more epiphyses of one or more vertebrae HP:0100734 IAO:0000115 nl An anomaly of one or more epiphyses of one or more vertebrae NOT_TRANSLATED +en An anomaly of one or more metaphyses of the arms HP:0009809 IAO:0000115 nl An anomaly of one or more metaphyses of the arms NOT_TRANSLATED +en An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier HP:0031266 IAO:0000115 nl An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier NOT_TRANSLATED +en An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein HP:0012347 IAO:0000115 nl An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein NOT_TRANSLATED +en An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue HP:0012358 IAO:0000115 nl An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue NOT_TRANSLATED +en An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds HP:0031593 IAO:0000115 nl An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds NOT_TRANSLATED +en An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric HP:0031596 IAO:0000115 nl An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric NOT_TRANSLATED +en An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3 HP:0025070 IAO:0000115 nl An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3 NOT_TRANSLATED +en An anomaly of the addition of fucose sugar units to N-linked glycans HP:0012352 IAO:0000115 nl An anomaly of the addition of fucose sugar units to N-linked glycans NOT_TRANSLATED +en An anomaly of the addition of fucose sugar units to O-linked glycans HP:0012359 IAO:0000115 nl An anomaly of the addition of fucose sugar units to O-linked glycans NOT_TRANSLATED +en An anomaly of the addition of mannose to N-linked glycans HP:0012355 IAO:0000115 nl An anomaly of the addition of mannose to N-linked glycans NOT_TRANSLATED +en An anomaly of the addition of sialic acids to N-linked glycans HP:0012349 IAO:0000115 nl An anomaly of the addition of sialic acids to N-linked glycans NOT_TRANSLATED +en An anomaly of the addition of sialic acids to O-linked glycans HP:0012362 IAO:0000115 nl An anomaly of the addition of sialic acids to O-linked glycans NOT_TRANSLATED +en An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva HP:0032039 IAO:0000115 nl An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva NOT_TRANSLATED +en An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male) HP:0000812 IAO:0000115 nl An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male) NOT_TRANSLATED +en An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis HP:0030142 IAO:0000115 nl An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis NOT_TRANSLATED +en An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts HP:0030301 IAO:0000115 nl An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts NOT_TRANSLATED +en An anomaly of the arch of aorta HP:0012303 IAO:0000115 nl An anomaly of the arch of aorta NOT_TRANSLATED +en An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae HP:0003413 IAO:0000115 nl An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae NOT_TRANSLATED +en An anomaly of the brainstem HP:0002363 IAO:0000115 nl An anomaly of the brainstem NOT_TRANSLATED +en An anomaly of the calf bone (fibula), one of the two bones of the calf HP:0002991 IAO:0000115 nl An anomaly of the calf bone (fibula), one of the two bones of the calf NOT_TRANSLATED +en An anomaly of the celiac artery HP:0012326 IAO:0000115 nl An anomaly of the celiac artery NOT_TRANSLATED +en An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum HP:0011931 IAO:0000115 nl An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum NOT_TRANSLATED +en An anomaly of the cerebral blood vessels HP:0100659 IAO:0000115 nl An anomaly of the cerebral blood vessels NOT_TRANSLATED +en An anomaly of the circle of Willis, also known as the cerebral arterial circle HP:0012518 IAO:0000115 nl An anomaly of the circle of Willis, also known as the cerebral arterial circle NOT_TRANSLATED +en An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) HP:0030338 IAO:0000115 nl An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH) NOT_TRANSLATED +en An anomaly of the circulating level of follicle-stimulating hormone (FSH) HP:0030346 IAO:0000115 nl An anomaly of the circulating level of follicle-stimulating hormone (FSH) NOT_TRANSLATED +en An anomaly of the circulating level of luteinizing hormone (LH) HP:0030345 IAO:0000115 nl An anomaly of the circulating level of luteinizing hormone (LH) NOT_TRANSLATED +en An anomaly of the color of the nail HP:0100643 IAO:0000115 nl An anomaly of the color of the nail NOT_TRANSLATED +en An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram HP:0025074 IAO:0000115 nl An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram NOT_TRANSLATED +en An anomaly of the control or production of movement in the central nervous system HP:0011442 IAO:0000115 nl An anomaly of the control or production of movement in the central nervous system NOT_TRANSLATED +en An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea HP:0034251 IAO:0000115 nl An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea NOT_TRANSLATED +en An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy HP:0012255 IAO:0000115 nl An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED +en An anomaly of the electrical conduction physiology of the heart HP:0030956 IAO:0000115 nl An anomaly of the electrical conduction physiology of the heart NOT_TRANSLATED +en An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm HP:0031434 IAO:0000115 nl An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm NOT_TRANSLATED +en An anomaly of the femoral metaphysis HP:0006489 IAO:0000115 nl An anomaly of the femoral metaphysis NOT_TRANSLATED +en An anomaly of the fifth metatarsal bone HP:0008089 IAO:0000115 nl An anomaly of the fifth metatarsal bone NOT_TRANSLATED +en An anomaly of the first metatarsal bone HP:0010054 IAO:0000115 nl An anomaly of the first metatarsal bone NOT_TRANSLATED +en An anomaly of the forehead HP:0000290 IAO:0000115 nl An anomaly of the forehead NOT_TRANSLATED +en An anomaly of the form or number of cells in the bone marrow HP:0005561 IAO:0000115 nl An anomaly of the form or number of cells in the bone marrow NOT_TRANSLATED +en An anomaly of the fourth toe HP:0010321 IAO:0000115 nl An anomaly of the fourth toe NOT_TRANSLATED +en An anomaly of the function of the pancreas HP:0012091 IAO:0000115 nl An anomaly of the function of the pancreas NOT_TRANSLATED +en An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus HP:0011912 IAO:0000115 nl An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus NOT_TRANSLATED +en An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs HP:0032152 IAO:0000115 nl An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs NOT_TRANSLATED +en An anomaly of the humeral diaphysis HP:0003926 IAO:0000115 nl An anomaly of the humeral diaphysis NOT_TRANSLATED +en An anomaly of the humeral epiphysis HP:0003891 IAO:0000115 nl An anomaly of the humeral epiphysis NOT_TRANSLATED +en An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally HP:0011867 IAO:0000115 nl An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally NOT_TRANSLATED +en An anomaly of the inner mucous membrane of the uterus HP:0030126 IAO:0000115 nl An anomaly of the inner mucous membrane of the uterus NOT_TRANSLATED +en An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus HP:0012502 IAO:0000115 nl An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus NOT_TRANSLATED +en An anomaly of the intra-atrial or intraventricular septum HP:0001671 IAO:0000115 nl An anomaly of the intra-atrial or intraventricular septum NOT_TRANSLATED +en An anomaly of the intracellular membrane complexes known as the dense tubular system HP:0012491 IAO:0000115 nl An anomaly of the intracellular membrane complexes known as the dense tubular system NOT_TRANSLATED +en An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction HP:0012485 IAO:0000115 nl An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction NOT_TRANSLATED +en An anomaly of the ischium, which forms the lower and back part of the hip bone HP:0003174 IAO:0000115 nl An anomaly of the ischium, which forms the lower and back part of the hip bone NOT_TRANSLATED +en An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint HP:0100745 IAO:0000115 nl An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint NOT_TRANSLATED +en An anomaly of the joint that connects the upper and the lower arm HP:0009811 IAO:0000115 nl An anomaly of the joint that connects the upper and the lower arm NOT_TRANSLATED +en An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure HP:0030847 IAO:0000115 nl An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure NOT_TRANSLATED +en An anomaly of the labia minora, the folds of skin between the outer labia HP:0012880 IAO:0000115 nl An anomaly of the labia minora, the folds of skin between the outer labia NOT_TRANSLATED +en An anomaly of the labia, the externally visible portions of the vulva HP:0000058 IAO:0000115 nl An anomaly of the labia, the externally visible portions of the vulva NOT_TRANSLATED +en An anomaly of the little toe HP:0010322 IAO:0000115 nl An anomaly of the little toe NOT_TRANSLATED +en An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively HP:0100763 IAO:0000115 nl An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively NOT_TRANSLATED +en An anomaly of the margin of the cornea overlapped by the sclera HP:0025348 IAO:0000115 nl An anomaly of the margin of the cornea overlapped by the sclera NOT_TRANSLATED +en An anomaly of the metaphysis of the distal femur (close to the knee) HP:0030299 IAO:0000115 nl An anomaly of the metaphysis of the distal femur (close to the knee) NOT_TRANSLATED +en An anomaly of the metaphysis of the proximal femur (close to the hip) HP:0006431 IAO:0000115 nl An anomaly of the metaphysis of the proximal femur (close to the hip) NOT_TRANSLATED +en An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface HP:0000309 IAO:0000115 nl An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface NOT_TRANSLATED +en An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration HP:0012103 IAO:0000115 nl An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration NOT_TRANSLATED +en An anomaly of the mobility of ejaculated sperm HP:0012206 IAO:0000115 nl An anomaly of the mobility of ejaculated sperm NOT_TRANSLATED +en An anomaly of the muscular contractions that propel food though the gastrointestinal tract HP:0030895 IAO:0000115 nl An anomaly of the muscular contractions that propel food though the gastrointestinal tract NOT_TRANSLATED +en An anomaly of the musculature of foot HP:0001436 IAO:0000115 nl An anomaly of the musculature of foot NOT_TRANSLATED +en An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body HP:0033127 IAO:0000115 nl An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body NOT_TRANSLATED +en An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face HP:0012808 IAO:0000115 nl An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face NOT_TRANSLATED +en An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells HP:0012176 IAO:0000115 nl An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells NOT_TRANSLATED +en An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix HP:0012888 IAO:0000115 nl An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix NOT_TRANSLATED +en An anomaly of the outer labia HP:0012881 IAO:0000115 nl An anomaly of the outer labia NOT_TRANSLATED +en An anomaly of the outer shell (cortex) of a foot bone HP:0025332 IAO:0000115 nl An anomaly of the outer shell (cortex) of a foot bone NOT_TRANSLATED +en An anomaly of the outer shell (cortex) of a hand bone HP:0005926 IAO:0000115 nl An anomaly of the outer shell (cortex) of a hand bone NOT_TRANSLATED +en An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood HP:0031174 IAO:0000115 nl An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood NOT_TRANSLATED +en An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly HP:0000600 IAO:0000115 nl An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly NOT_TRANSLATED +en An anomaly of the pigmentation in the fovea centralis HP:0030493 IAO:0000115 nl An anomaly of the pigmentation in the fovea centralis NOT_TRANSLATED +en An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin HP:0012680 IAO:0000115 nl An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin NOT_TRANSLATED +en An anomaly of the pituitary gland HP:0012503 IAO:0000115 nl An anomaly of the pituitary gland NOT_TRANSLATED +en An anomaly of the process of formation of bone in the humerus HP:0012791 IAO:0000115 nl An anomaly of the process of formation of bone in the humerus NOT_TRANSLATED +en An anomaly of the process of rib bone formation HP:0012306 IAO:0000115 nl An anomaly of the process of rib bone formation NOT_TRANSLATED +en An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC HP:0030780 IAO:0000115 nl An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC NOT_TRANSLATED +en An anomaly of the proximal phalanx of third toe HP:0010370 IAO:0000115 nl An anomaly of the proximal phalanx of third toe NOT_TRANSLATED +en An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure HP:0030850 IAO:0000115 nl An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure NOT_TRANSLATED +en An anomaly of the radial diaphysis HP:0004027 IAO:0000115 nl An anomaly of the radial diaphysis NOT_TRANSLATED +en An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months HP:0025567 IAO:0000115 nl An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months NOT_TRANSLATED +en An anomaly of the rhythm or depth of breathing HP:0002793 IAO:0000115 nl An anomaly of the rhythm or depth of breathing NOT_TRANSLATED +en An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart HP:0032552 IAO:0000115 nl An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart NOT_TRANSLATED +en An anomaly of the rib HP:0000772 IAO:0000115 nl An anomaly of the rib NOT_TRANSLATED +en An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone) HP:0100781 IAO:0000115 nl An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone) NOT_TRANSLATED +en An anomaly of the second finger, also known as the index finger HP:0004100 IAO:0000115 nl An anomaly of the second finger, also known as the index finger NOT_TRANSLATED +en An anomaly of the second toe HP:0010319 IAO:0000115 nl An anomaly of the second toe NOT_TRANSLATED +en An anomaly of the shape or form of the proximal phalanx of the thumb HP:0009618 IAO:0000115 nl An anomaly of the shape or form of the proximal phalanx of the thumb NOT_TRANSLATED +en An anomaly of the size of the testicle (the male gonad) HP:0045058 IAO:0000115 nl An anomaly of the size of the testicle (the male gonad) NOT_TRANSLATED +en An anomaly of the small joints located between and behind adjacent vertebrae HP:0030870 IAO:0000115 nl An anomaly of the small joints located between and behind adjacent vertebrae NOT_TRANSLATED +en An anomaly of the space between the medial and lateral canthi of the two open eyelids HP:0008050 IAO:0000115 nl An anomaly of the space between the medial and lateral canthi of the two open eyelids NOT_TRANSLATED +en An anomaly of the sternum, also known as the breastbone HP:0000766 IAO:0000115 nl An anomaly of the sternum, also known as the breastbone NOT_TRANSLATED +en An anomaly of the structure of mitochondria within cardiomyocytes HP:0031335 IAO:0000115 nl An anomaly of the structure of mitochondria within cardiomyocytes NOT_TRANSLATED +en An anomaly of the superior cerebellar peduncle HP:0011932 IAO:0000115 nl An anomaly of the superior cerebellar peduncle NOT_TRANSLATED +en An anomaly of the supraorbital portion of the frontal bones HP:0100538 IAO:0000115 nl An anomaly of the supraorbital portion of the frontal bones NOT_TRANSLATED +en An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place HP:0012628 IAO:0000115 nl An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place NOT_TRANSLATED +en An anomaly of the temporomandibular joint HP:0010754 IAO:0000115 nl An anomaly of the temporomandibular joint NOT_TRANSLATED +en An anomaly of the testicle (the male gonad) HP:0000035 IAO:0000115 nl An anomaly of the testicle (the male gonad) NOT_TRANSLATED +en An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone HP:0003172 IAO:0000115 nl An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone NOT_TRANSLATED +en An anomaly of the third finger HP:0004150 IAO:0000115 nl An anomaly of the third finger NOT_TRANSLATED +en An anomaly of the third toe HP:0010320 IAO:0000115 nl An anomaly of the third toe NOT_TRANSLATED +en An anomaly of the toenail HP:0008388 IAO:0000115 nl An anomaly of the toenail NOT_TRANSLATED +en An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map HP:0025252 IAO:0000115 nl An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map NOT_TRANSLATED +en An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm HP:0012630 IAO:0000115 nl An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm NOT_TRANSLATED +en An anomaly of the vermis of cerebellum HP:0002334 IAO:0000115 nl An anomaly of the vermis of cerebellum NOT_TRANSLATED +en An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system HP:0030321 IAO:0000115 nl An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system NOT_TRANSLATED +en An anomaly of the wave-like muscle contractions of the digestive tract HP:0030914 IAO:0000115 nl An anomaly of the wave-like muscle contractions of the digestive tract NOT_TRANSLATED +en An anomaly of the white matter of brainstem HP:0012501 IAO:0000115 nl An anomaly of the white matter of brainstem NOT_TRANSLATED +en An anomaly of trapezium HP:0004252 IAO:0000115 nl An anomaly of trapezium NOT_TRANSLATED +en An anomaly of vein HP:0002624 IAO:0000115 nl An anomaly of vein NOT_TRANSLATED +en An anomaly of venous function HP:0030846 IAO:0000115 nl An anomaly of venous function NOT_TRANSLATED +en An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex HP:0000649 IAO:0000115 nl An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex NOT_TRANSLATED +en An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna HP:0003067 IAO:0000115 nl An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna NOT_TRANSLATED +en An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities HP:0006510 IAO:0000115 nl An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities NOT_TRANSLATED +en An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole HP:0034224 IAO:0000115 nl An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole NOT_TRANSLATED +en An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow) HP:0034225 IAO:0000115 nl An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow) NOT_TRANSLATED +en An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy HP:0020169 IAO:0000115 nl An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy NOT_TRANSLATED +en An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes HP:0034206 IAO:0000115 nl An anomlous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED +en An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes HP:0034207 IAO:0000115 nl An anomlous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED +en An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes HP:0034242 IAO:0000115 nl An anomlous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED +en An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes HP:0034243 IAO:0000115 nl An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED +en An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes HP:0025662 IAO:0000115 nl An anomlous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes NOT_TRANSLATED +en An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion HP:0030794 IAO:0000115 nl An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion NOT_TRANSLATED +en An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color HP:0030790 IAO:0000115 nl An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color NOT_TRANSLATED +en An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline HP:0031074 IAO:0000115 nl An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline NOT_TRANSLATED +en An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity HP:0025194 IAO:0000115 nl An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity NOT_TRANSLATED +en An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space HP:0032176 IAO:0000115 nl An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space NOT_TRANSLATED +en An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month HP:0011856 IAO:0000115 nl An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month NOT_TRANSLATED +en An arachnoid cyst located at the margin of the cerebellum and pons HP:0012487 IAO:0000115 nl An arachnoid cyst located at the margin of the cerebellum and pons NOT_TRANSLATED +en An arachnoid cyst located within the ventricular system HP:0012488 IAO:0000115 nl An arachnoid cyst located within the ventricular system NOT_TRANSLATED +en An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards HP:0012489 IAO:0000115 nl An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards NOT_TRANSLATED +en An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis HP:0033227 IAO:0000115 nl An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis NOT_TRANSLATED +en An area of depressed vision located at the point of fixation and that interferes with central vision HP:0000603 IAO:0000115 nl An area of depressed vision located at the point of fixation and that interferes with central vision NOT_TRANSLATED +en An area of fat accumulation at the back of the neck in the form of a hump HP:0025383 IAO:0000115 nl An area of fat accumulation at the back of the neck in the form of a hump NOT_TRANSLATED +en An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset HP:0001493 IAO:0000115 nl An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset NOT_TRANSLATED +en An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer HP:0005313 IAO:0000115 nl An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer NOT_TRANSLATED +en An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus HP:0031255 IAO:0000115 nl An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus NOT_TRANSLATED +en An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla HP:0031257 IAO:0000115 nl An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla NOT_TRANSLATED +en An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve HP:0031256 IAO:0000115 nl An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve NOT_TRANSLATED +en An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus HP:0031254 IAO:0000115 nl An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus NOT_TRANSLATED +en An asymmetriy, i.e., difference in size, shape or position between the left and right ear HP:0010722 IAO:0000115 nl An asymmetriy, i.e., difference in size, shape or position between the left and right ear NOT_TRANSLATED +en An atherosclerotic lesion located in the renal artery HP:0031684 IAO:0000115 nl An atherosclerotic lesion located in the renal artery NOT_TRANSLATED +en An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute HP:0005110 IAO:0000115 nl An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute NOT_TRANSLATED +en An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus HP:0011643 IAO:0000115 nl An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus NOT_TRANSLATED +en An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect HP:0011561 IAO:0000115 nl An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect NOT_TRANSLATED +en An atrioventricular valve that has failed to open (atretic) HP:0011574 IAO:0000115 nl An atrioventricular valve that has failed to open (atretic) NOT_TRANSLATED +en An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility HP:0031158 IAO:0000115 nl An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility NOT_TRANSLATED +en An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity HP:0007270 IAO:0000115 nl An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity NOT_TRANSLATED +en An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients HP:0100647 IAO:0000115 nl An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients NOT_TRANSLATED +en An autoimmune form of hemolytic anemia HP:0001890 IAO:0000115 nl An autoimmune form of hemolytic anemia NOT_TRANSLATED +en An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region HP:0033722 IAO:0000115 nl An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region NOT_TRANSLATED +en An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature HP:0011154 IAO:0000115 nl An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature NOT_TRANSLATED +en An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure HP:0032775 IAO:0000115 nl An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure NOT_TRANSLATED +en An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure HP:0032769 IAO:0000115 nl An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure NOT_TRANSLATED +en An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure HP:0032784 IAO:0000115 nl An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure NOT_TRANSLATED +en An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness HP:0500049 IAO:0000115 nl An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness NOT_TRANSLATED +en An axonal neuropathy of peripheral sensory nerves HP:0003390 IAO:0000115 nl An axonal neuropathy of peripheral sensory nerves NOT_TRANSLATED +en An chronic form of hemolytic anemia HP:0004870 IAO:0000115 nl An chronic form of hemolytic anemia NOT_TRANSLATED +en An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta HP:0006367 IAO:0000115 nl An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta NOT_TRANSLATED +en An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others HP:0025274 IAO:0000115 nl An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others NOT_TRANSLATED +en An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood HP:0011106 IAO:0000115 nl An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood NOT_TRANSLATED +en An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025048 IAO:0000115 nl An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS) HP:0031161 IAO:0000115 nl An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) HP:0030980 IAO:0000115 nl An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An decrease in the level of triglycerides in the blood HP:0012153 IAO:0000115 nl An decrease in the level of triglycerides in the blood NOT_TRANSLATED +en An decreased amount of bowel sounds HP:0030144 IAO:0000115 nl An decreased amount of bowel sounds NOT_TRANSLATED +en An decreased concentration of chloride in the urine HP:0012601 IAO:0000115 nl An decreased concentration of chloride in the urine NOT_TRANSLATED +en An decreased concentration of cholesterol in the blood HP:0003146 IAO:0000115 nl An decreased concentration of cholesterol in the blood NOT_TRANSLATED +en An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum HP:0012545 IAO:0000115 nl An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum NOT_TRANSLATED +en An decreased concentration of high-density lipoprotein cholesterol in the blood HP:0003233 IAO:0000115 nl An decreased concentration of high-density lipoprotein cholesterol in the blood NOT_TRANSLATED +en An decreased concentration of low-density lipoprotein cholesterol in the blood HP:0003563 IAO:0000115 nl An decreased concentration of low-density lipoprotein cholesterol in the blood NOT_TRANSLATED +en An decreased concentration of magnesium the urine HP:0012609 IAO:0000115 nl An decreased concentration of magnesium the urine NOT_TRANSLATED +en An decreased concentration of tyrosine in the blood HP:0500133 IAO:0000115 nl An decreased concentration of tyrosine in the blood NOT_TRANSLATED +en An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS) HP:0500021 IAO:0000115 nl An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An decreased level of iduronate-2-sulfatase activity in the blood circulation HP:0034203 IAO:0000115 nl An decreased level of iduronate-2-sulfatase activity in the blood circulation NOT_TRANSLATED +en An decreased level of renin in the blood HP:0003351 IAO:0000115 nl An decreased level of renin in the blood NOT_TRANSLATED +en An decreased number of circulating monocytes HP:0012312 IAO:0000115 nl An decreased number of circulating monocytes NOT_TRANSLATED +en An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative HP:0500266 IAO:0000115 nl An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative NOT_TRANSLATED +en An deviation from the normal concentration of sarcosine in the blood circulation HP:0010898 IAO:0000115 nl An deviation from the normal concentration of sarcosine in the blood circulation NOT_TRANSLATED +en An early onset of puberty, in this case early does not refer to precocious HP:0100000 IAO:0000115 nl An early onset of puberty, in this case early does not refer to precocious NOT_TRANSLATED +en An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall HP:0031645 IAO:0000115 nl An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall NOT_TRANSLATED +en An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall HP:0031647 IAO:0000115 nl An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall NOT_TRANSLATED +en An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall HP:0012729 IAO:0000115 nl An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall NOT_TRANSLATED +en An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma HP:0000978 IAO:0000115 nl An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma NOT_TRANSLATED +en An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position HP:0002987 IAO:0000115 nl An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position NOT_TRANSLATED +en An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position HP:0034393 IAO:0000115 nl An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position NOT_TRANSLATED +en An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk HP:0032504 IAO:0000115 nl An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk NOT_TRANSLATED +en An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave HP:0034304 IAO:0000115 nl An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave NOT_TRANSLATED +en An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line HP:0012250 IAO:0000115 nl An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line NOT_TRANSLATED +en An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line HP:0012251 IAO:0000115 nl An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line NOT_TRANSLATED +en An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment HP:0012249 IAO:0000115 nl An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment NOT_TRANSLATED +en An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat HP:0034306 IAO:0000115 nl An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat NOT_TRANSLATED +en An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP) HP:0100285 IAO:0000115 nl An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP) NOT_TRANSLATED +en An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine HP:0033984 IAO:0000115 nl An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine NOT_TRANSLATED +en An elevated amount of gastrin in the blood HP:0500167 IAO:0000115 nl An elevated amount of gastrin in the blood NOT_TRANSLATED +en An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker HP:0031220 IAO:0000115 nl An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker NOT_TRANSLATED +en An elevated cardiac index, defined as cardiac output divided by body surface area HP:0033530 IAO:0000115 nl An elevated cardiac index, defined as cardiac output divided by body surface area NOT_TRANSLATED +en An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue HP:0030686 IAO:0000115 nl An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue NOT_TRANSLATED +en An elevated circulating concentration of folic acid, which is also known as vitamin B9 HP:0032164 IAO:0000115 nl An elevated circulating concentration of folic acid, which is also known as vitamin B9 NOT_TRANSLATED +en An elevated circulating testosterone level in the blood HP:0030088 IAO:0000115 nl An elevated circulating testosterone level in the blood NOT_TRANSLATED +en An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia HP:0045048 IAO:0000115 nl An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia NOT_TRANSLATED +en An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion HP:0030796 IAO:0000115 nl An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion NOT_TRANSLATED +en An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism HP:0003492 IAO:0000115 nl An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism NOT_TRANSLATED +en An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol HP:0031211 IAO:0000115 nl An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol NOT_TRANSLATED +en An elevated concentration of follicle-stimulating hormone in the blood HP:0008232 IAO:0000115 nl An elevated concentration of follicle-stimulating hormone in the blood NOT_TRANSLATED +en An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation HP:0011788 IAO:0000115 nl An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation NOT_TRANSLATED +en An elevated concentration of free thyroxine (fT4) in the blood circulation HP:0033077 IAO:0000115 nl An elevated concentration of free thyroxine (fT4) in the blood circulation NOT_TRANSLATED +en An elevated concentration of glucagon in the blood circulation HP:0030688 IAO:0000115 nl An elevated concentration of glucagon in the blood circulation NOT_TRANSLATED +en An elevated concentration of glycine in the blood HP:0002154 IAO:0000115 nl An elevated concentration of glycine in the blood NOT_TRANSLATED +en An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood HP:0012184 IAO:0000115 nl An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood NOT_TRANSLATED +en An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging HP:0012644 IAO:0000115 nl An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging NOT_TRANSLATED +en An elevated concentration of low-density lipoprotein cholesterol in the blood HP:0003141 IAO:0000115 nl An elevated concentration of low-density lipoprotein cholesterol in the blood NOT_TRANSLATED +en An elevated concentration of luteinizing hormone in the blood HP:0011969 IAO:0000115 nl An elevated concentration of luteinizing hormone in the blood NOT_TRANSLATED +en An elevated concentration of phosphohydroxylysine in the urine HP:0031870 IAO:0000115 nl An elevated concentration of phosphohydroxylysine in the urine NOT_TRANSLATED +en An elevated concentration of procalcitonin in the blood circulation HP:0032308 IAO:0000115 nl An elevated concentration of procalcitonin in the blood circulation NOT_TRANSLATED +en An elevated concentration of progesterone in the blood HP:0031216 IAO:0000115 nl An elevated concentration of progesterone in the blood NOT_TRANSLATED +en An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation HP:0031883 IAO:0000115 nl An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation NOT_TRANSLATED +en An elevated concentration of sodium in feces HP:0032484 IAO:0000115 nl An elevated concentration of sodium in feces NOT_TRANSLATED +en An elevated concentration of thyroxine-binding globulin (TBG) in the blood HP:0031222 IAO:0000115 nl An elevated concentration of thyroxine-binding globulin (TBG) in the blood NOT_TRANSLATED +en An elevated concentration of urobilinogen in the urine HP:0031890 IAO:0000115 nl An elevated concentration of urobilinogen in the urine NOT_TRANSLATED +en An elevated growth from the the mucosa of the bile duct HP:0034352 IAO:0000115 nl An elevated growth from the the mucosa of the bile duct NOT_TRANSLATED +en An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine HP:0033107 IAO:0000115 nl An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine NOT_TRANSLATED +en An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine HP:0033100 IAO:0000115 nl An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine NOT_TRANSLATED +en An elevated level of a sulfur-containing amino acid in the urine HP:0033095 IAO:0000115 nl An elevated level of a sulfur-containing amino acid in the urine NOT_TRANSLATED +en An elevated level of an aromatic amino acid in the urine HP:0033090 IAO:0000115 nl An elevated level of an aromatic amino acid in the urine NOT_TRANSLATED +en An elevated level of an aspartate family amino acid in the urine HP:0033096 IAO:0000115 nl An elevated level of an aspartate family amino acid in the urine NOT_TRANSLATED +en An elevated level of an glutamine family amino acid in the urine HP:0033093 IAO:0000115 nl An elevated level of an glutamine family amino acid in the urine NOT_TRANSLATED +en An elevated level of carnitine in the urine HP:0020077 IAO:0000115 nl An elevated level of carnitine in the urine NOT_TRANSLATED +en An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP) HP:0031185 IAO:0000115 nl An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP) NOT_TRANSLATED +en An elevated level of farnesol in the blood circulation HP:0033083 IAO:0000115 nl An elevated level of farnesol in the blood circulation NOT_TRANSLATED +en An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation HP:0030269 IAO:0000115 nl An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation NOT_TRANSLATED +en An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025460 IAO:0000115 nl An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An elevated level of osteocalcin in the blood HP:0031428 IAO:0000115 nl An elevated level of osteocalcin in the blood NOT_TRANSLATED +en An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency HP:0031544 IAO:0000115 nl An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency NOT_TRANSLATED +en An elevated level of the enzyme lactate dehydrogenase in the blood circulation HP:0025435 IAO:0000115 nl An elevated level of the enzyme lactate dehydrogenase in the blood circulation NOT_TRANSLATED +en An elevated lipid concentration in the blood HP:0003077 IAO:0000115 nl An elevated lipid concentration in the blood NOT_TRANSLATED +en An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods HP:0025164 IAO:0000115 nl An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods NOT_TRANSLATED +en An elevated plasma concentration of sarcosine HP:0010896 IAO:0000115 nl An elevated plasma concentration of sarcosine NOT_TRANSLATED +en An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation HP:0002853 IAO:0000115 nl An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation NOT_TRANSLATED +en An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine HP:0033506 IAO:0000115 nl An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine NOT_TRANSLATED +en An elevated urinary concentration of cystathionine HP:0003153 IAO:0000115 nl An elevated urinary concentration of cystathionine NOT_TRANSLATED +en An elevated urinary concentration of sarcosine HP:0010897 IAO:0000115 nl An elevated urinary concentration of sarcosine NOT_TRANSLATED +en An elevated urine level of a compound that is derived from an amino acid HP:0033097 IAO:0000115 nl An elevated urine level of a compound that is derived from an amino acid NOT_TRANSLATED +en An elevation above normal limits of estriol concentration in the circulation HP:0025136 IAO:0000115 nl An elevation above normal limits of estriol concentration in the circulation NOT_TRANSLATED +en An elevation above normal limits of the concentration of estradiol in the circulation HP:0025134 IAO:0000115 nl An elevation above normal limits of the concentration of estradiol in the circulation NOT_TRANSLATED +en An elevation above normal limits of the concentration of estrone in the circulation HP:0025139 IAO:0000115 nl An elevation above normal limits of the concentration of estrone in the circulation NOT_TRANSLATED +en An elevation above normal of fetuin A in the blood circulation HP:0033307 IAO:0000115 nl An elevation above normal of fetuin A in the blood circulation NOT_TRANSLATED +en An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF) HP:0025687 IAO:0000115 nl An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) HP:0025685 IAO:0000115 nl An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en An elevation above the normal concentration of manganese in the blood HP:0032097 IAO:0000115 nl An elevation above the normal concentration of manganese in the blood NOT_TRANSLATED +en An elevation above the normal concentration of prealbumin in the blood circulation HP:0033451 IAO:0000115 nl An elevation above the normal concentration of prealbumin in the blood circulation NOT_TRANSLATED +en An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm HP:0032420 IAO:0000115 nl An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm NOT_TRANSLATED +en An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm HP:0032424 IAO:0000115 nl An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED +en An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm HP:0032428 IAO:0000115 nl An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm NOT_TRANSLATED +en An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm HP:0032430 IAO:0000115 nl An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm NOT_TRANSLATED +en An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm HP:0032432 IAO:0000115 nl An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm NOT_TRANSLATED +en An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) HP:0031506 IAO:0000115 nl An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3) NOT_TRANSLATED +en An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen HP:0030371 IAO:0000115 nl An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen NOT_TRANSLATED +en An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells HP:0032128 IAO:0000115 nl An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells NOT_TRANSLATED +en An elevation above the normal range of creatine in the blood circulation HP:0034291 IAO:0000115 nl An elevation above the normal range of creatine in the blood circulation NOT_TRANSLATED +en An elevation above the normal range of the antimullerian hormone in the circulation HP:0031102 IAO:0000115 nl An elevation above the normal range of the antimullerian hormone in the circulation NOT_TRANSLATED +en An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration HP:0034449 IAO:0000115 nl An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration NOT_TRANSLATED +en An elevation above the normal ratio of the volume of red blood cells to the total volume of blood HP:0001899 IAO:0000115 nl An elevation above the normal ratio of the volume of red blood cells to the total volume of blood NOT_TRANSLATED +en An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation HP:0032462 IAO:0000115 nl An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation NOT_TRANSLATED +en An elevation from normal levels of immunoglobulins in body fluids, such as mucous HP:0041077 IAO:0000115 nl An elevation from normal levels of immunoglobulins in body fluids, such as mucous NOT_TRANSLATED +en An elevation in bone density in one or more carpal bones of the hand HP:0500031 IAO:0000115 nl An elevation in bone density in one or more carpal bones of the hand NOT_TRANSLATED +en An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0003860 IAO:0000115 nl An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0003034 IAO:0000115 nl An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100915 IAO:0000115 nl An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100948 IAO:0000115 nl An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100925 IAO:0000115 nl An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100916 IAO:0000115 nl An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100947 IAO:0000115 nl An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100930 IAO:0000115 nl An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100921 IAO:0000115 nl An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100929 IAO:0000115 nl An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100899 IAO:0000115 nl An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100920 IAO:0000115 nl An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100928 IAO:0000115 nl An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100918 IAO:0000115 nl An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100926 IAO:0000115 nl An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100919 IAO:0000115 nl An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100927 IAO:0000115 nl An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100924 IAO:0000115 nl An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100917 IAO:0000115 nl An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100946 IAO:0000115 nl An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0031051 IAO:0000115 nl An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100940 IAO:0000115 nl An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100936 IAO:0000115 nl An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100931 IAO:0000115 nl An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0100932 IAO:0000115 nl An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity HP:0005045 IAO:0000115 nl An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity NOT_TRANSLATED +en An elevation in the concentration of interferon alpha measured in the blood circulation HP:0034513 IAO:0000115 nl An elevation in the concentration of interferon alpha measured in the blood circulation NOT_TRANSLATED +en An elevation in the concentration of interferon gamma measured in the blood circulation HP:0030356 IAO:0000115 nl An elevation in the concentration of interferon gamma measured in the blood circulation NOT_TRANSLATED +en An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells HP:0030385 IAO:0000115 nl An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells NOT_TRANSLATED +en An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells HP:0030381 IAO:0000115 nl An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells NOT_TRANSLATED +en An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation HP:0001923 IAO:0000115 nl An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation NOT_TRANSLATED +en An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) HP:0030377 IAO:0000115 nl An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+) NOT_TRANSLATED +en An elevation in the proportion of CD4-positive T cells relative to the total number of T cells HP:0032219 IAO:0000115 nl An elevation in the proportion of CD4-positive T cells relative to the total number of T cells NOT_TRANSLATED +en An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) HP:0030375 IAO:0000115 nl An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV) NOT_TRANSLATED +en An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells HP:0012796 IAO:0000115 nl An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells NOT_TRANSLATED +en An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity HP:0025196 IAO:0000115 nl An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity NOT_TRANSLATED +en An elevation of alpha-feto protein in the maternal serum HP:0005984 IAO:0000115 nl An elevation of alpha-feto protein in the maternal serum NOT_TRANSLATED +en An elevation of alpha-feto protein measured in the amniotic fluid HP:0004639 IAO:0000115 nl An elevation of alpha-feto protein measured in the amniotic fluid NOT_TRANSLATED +en An elevation of bone density in the distal phalanx of the thumb HP:0100912 IAO:0000115 nl An elevation of bone density in the distal phalanx of the thumb NOT_TRANSLATED +en An elevation of bone density in the proximal phalanx of the thumb HP:0100913 IAO:0000115 nl An elevation of bone density in the proximal phalanx of the thumb NOT_TRANSLATED +en An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses HP:0032296 IAO:0000115 nl An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses NOT_TRANSLATED +en An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone HP:0030348 IAO:0000115 nl An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone NOT_TRANSLATED +en An elevation of the concentration of interleukin 10 in the blood circulation HP:0033199 IAO:0000115 nl An elevation of the concentration of interleukin 10 in the blood circulation NOT_TRANSLATED +en An elevation of the eyelid above the normal level in the primary position HP:0500044 IAO:0000115 nl An elevation of the eyelid above the normal level in the primary position NOT_TRANSLATED +en An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy HP:0003236 IAO:0000115 nl An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy NOT_TRANSLATED +en An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold HP:0033241 IAO:0000115 nl An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold NOT_TRANSLATED +en An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell) HP:0025548 IAO:0000115 nl An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell) NOT_TRANSLATED +en An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery HP:0002204 IAO:0000115 nl An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery NOT_TRANSLATED +en An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis HP:0032620 IAO:0000115 nl An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis NOT_TRANSLATED +en An encephalocele located between bregma and lambda HP:0011816 IAO:0000115 nl An encephalocele located between bregma and lambda NOT_TRANSLATED +en An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins HP:0005868 IAO:0000115 nl An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins NOT_TRANSLATED +en An endocrine tumor arising from an APUD cell HP:0040192 IAO:0000115 nl An endocrine tumor arising from an APUD cell NOT_TRANSLATED +en An endocrine tumor of the pancreas that secretes excessive amounts of glucagon HP:0030404 IAO:0000115 nl An endocrine tumor of the pancreas that secretes excessive amounts of glucagon NOT_TRANSLATED +en An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents HP:0010865 IAO:0000115 nl An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents NOT_TRANSLATED +en An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age HP:0000485 IAO:0000115 nl An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age NOT_TRANSLATED +en An enlargement of the posterior fontanelle relative to age-dependent norms HP:0004491 IAO:0000115 nl An enlargement of the posterior fontanelle relative to age-dependent norms NOT_TRANSLATED +en An enlargement of the thyroid gland HP:0000853 IAO:0000115 nl An enlargement of the thyroid gland NOT_TRANSLATED +en An enlargement of the thyroid gland with congenital onset HP:0008251 IAO:0000115 nl An enlargement of the thyroid gland with congenital onset NOT_TRANSLATED +en An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region HP:0012216 IAO:0000115 nl An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region NOT_TRANSLATED +en An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand HP:0012186 IAO:0000115 nl An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand NOT_TRANSLATED +en An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord HP:0030655 IAO:0000115 nl An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord NOT_TRANSLATED +en An epidermoid cyst in the armpit HP:0012540 IAO:0000115 nl An epidermoid cyst in the armpit NOT_TRANSLATED +en An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure HP:0033348 IAO:0000115 nl An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure NOT_TRANSLATED +en An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate HP:0010016 IAO:0000115 nl An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate NOT_TRANSLATED +en An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy HP:0100014 IAO:0000115 nl An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy NOT_TRANSLATED +en An episodic form of supraventricular tachycardia with abrupt onset and termination HP:0004763 IAO:0000115 nl An episodic form of supraventricular tachycardia with abrupt onset and termination NOT_TRANSLATED +en An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus HP:0032578 IAO:0000115 nl An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus NOT_TRANSLATED +en An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles HP:0031499 IAO:0000115 nl An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles NOT_TRANSLATED +en An erosion of the mucous membrane in a portion of the duodenum HP:0002588 IAO:0000115 nl An erosion of the mucous membrane in a portion of the duodenum NOT_TRANSLATED +en An erosion of the mucous membrane in a portion of the ileum HP:0032024 IAO:0000115 nl An erosion of the mucous membrane in a portion of the ileum NOT_TRANSLATED +en An erosion of the mucous membrane in the region connecting the ileum and cecum HP:0033433 IAO:0000115 nl An erosion of the mucous membrane in the region connecting the ileum and cecum NOT_TRANSLATED +en An erosion or abrasion of the cornea's outermost layer of epithelial cells HP:0200020 IAO:0000115 nl An erosion or abrasion of the cornea's outermost layer of epithelial cells NOT_TRANSLATED +en An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose HP:0025300 IAO:0000115 nl An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose NOT_TRANSLATED +en An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral HP:0012219 IAO:0000115 nl An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral NOT_TRANSLATED +en An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium HP:0034418 IAO:0000115 nl An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium NOT_TRANSLATED +en An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion HP:0012669 IAO:0000115 nl An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion NOT_TRANSLATED +en An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face HP:0002267 IAO:0000115 nl An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face NOT_TRANSLATED +en An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor) HP:0011971 IAO:0000115 nl An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor) NOT_TRANSLATED +en An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance HP:0010455 IAO:0000115 nl An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance NOT_TRANSLATED +en An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days HP:0012282 IAO:0000115 nl An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days NOT_TRANSLATED +en An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon HP:0031813 IAO:0000115 nl An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon NOT_TRANSLATED +en An excessive concavity of the anterior surface of one or more vertebral bodies HP:0004580 IAO:0000115 nl An excessive concavity of the anterior surface of one or more vertebral bodies NOT_TRANSLATED +en An excessive concavity of the posterior surface of one or more vertebral bodies HP:0005121 IAO:0000115 nl An excessive concavity of the posterior surface of one or more vertebral bodies NOT_TRANSLATED +en An excessive desire to eat salt (sodium chloride) or salty foods HP:0030083 IAO:0000115 nl An excessive desire to eat salt (sodium chloride) or salty foods NOT_TRANSLATED +en An excessive division of the lobes of the nucleus of a neutrophil HP:0004821 IAO:0000115 nl An excessive division of the lobes of the nucleus of a neutrophil NOT_TRANSLATED +en An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid HP:0410312 IAO:0000115 nl An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid NOT_TRANSLATED +en An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes HP:0034253 IAO:0000115 nl An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes NOT_TRANSLATED +en An excessive number of histiocytes (tissue macrophages) HP:0100727 IAO:0000115 nl An excessive number of histiocytes (tissue macrophages) NOT_TRANSLATED +en An excessive upward convexity of the lateral clavicle HP:0000895 IAO:0000115 nl An excessive upward convexity of the lateral clavicle NOT_TRANSLATED +en An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury HP:4000009 IAO:0000115 nl An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury NOT_TRANSLATED +en An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage HP:0100777 IAO:0000115 nl An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage NOT_TRANSLATED +en An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter) HP:0031180 IAO:0000115 nl An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter) NOT_TRANSLATED +en An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart HP:0030148 IAO:0000115 nl An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart NOT_TRANSLATED +en An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid HP:0100702 IAO:0000115 nl An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid NOT_TRANSLATED +en An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit) HP:0033031 IAO:0000115 nl An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit) NOT_TRANSLATED +en An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space HP:0012050 IAO:0000115 nl An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space NOT_TRANSLATED +en An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries HP:0012516 IAO:0000115 nl An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries NOT_TRANSLATED +en An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa HP:0031985 IAO:0000115 nl An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa NOT_TRANSLATED +en An eye that is more deeply recessed into the plane of the face than is typical HP:0000490 IAO:0000115 nl An eye that is more deeply recessed into the plane of the face than is typical NOT_TRANSLATED +en An eye that is protruding anterior to the plane of the face to a greater extent than is typical HP:0000520 IAO:0000115 nl An eye that is protruding anterior to the plane of the face to a greater extent than is typical NOT_TRANSLATED +en An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location HP:0011230 IAO:0000115 nl An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location NOT_TRANSLATED +en An eyebrow that extends straight across the brow, without curve HP:0011228 IAO:0000115 nl An eyebrow that extends straight across the brow, without curve NOT_TRANSLATED +en An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid HP:0430006 IAO:0000115 nl An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid NOT_TRANSLATED +en An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness HP:0032678 IAO:0000115 nl An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness NOT_TRANSLATED +en An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders HP:0011425 IAO:0000115 nl An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders NOT_TRANSLATED +en An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones HP:0011746 IAO:0000115 nl An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones NOT_TRANSLATED +en An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones HP:0011745 IAO:0000115 nl An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones NOT_TRANSLATED +en An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet HP:0007475 IAO:0000115 nl An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet NOT_TRANSLATED +en An ichthyosiform abnormality of the skin with congenital onset HP:0007431 IAO:0000115 nl An ichthyosiform abnormality of the skin with congenital onset NOT_TRANSLATED +en An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity HP:0005374 IAO:0000115 nl An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity NOT_TRANSLATED +en An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins HP:0004431 IAO:0000115 nl An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins NOT_TRANSLATED +en An impaired ability of the eye to move in the outward direction (towards the side of the head) HP:0000634 IAO:0000115 nl An impaired ability of the eye to move in the outward direction (towards the side of the head) NOT_TRANSLATED +en An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory) HP:0031404 IAO:0000115 nl An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory) NOT_TRANSLATED +en An impairment in the ability to produce voice sounds HP:0001618 IAO:0000115 nl An impairment in the ability to produce voice sounds NOT_TRANSLATED +en An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha HP:0011114 IAO:0000115 nl An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha NOT_TRANSLATED +en An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent HP:0003540 IAO:0000115 nl An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent NOT_TRANSLATED +en An impairment of a fructose metabolic process HP:0011033 IAO:0000115 nl An impairment of a fructose metabolic process NOT_TRANSLATED +en An impairment of galactose metabolism HP:0004915 IAO:0000115 nl An impairment of galactose metabolism NOT_TRANSLATED +en An impairment of gluconeogenesis HP:0005959 IAO:0000115 nl An impairment of gluconeogenesis NOT_TRANSLATED +en An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness HP:0002354 IAO:0000115 nl An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness NOT_TRANSLATED +en An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion HP:0007772 IAO:0000115 nl An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion NOT_TRANSLATED +en An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE HP:0002959 IAO:0000115 nl An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE NOT_TRANSLATED +en An impairment of the electrical continuity between the atria and ventricles HP:0005150 IAO:0000115 nl An impairment of the electrical continuity between the atria and ventricles NOT_TRANSLATED +en An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response HP:0040238 IAO:0000115 nl An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response NOT_TRANSLATED +en An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water HP:0001994 IAO:0000115 nl An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water NOT_TRANSLATED +en An inability or difficulty differentiating among the fingers of either hand as well as the hands of others HP:0010525 IAO:0000115 nl An inability or difficulty differentiating among the fingers of either hand as well as the hands of others NOT_TRANSLATED +en An inability to digest lactose HP:0004789 IAO:0000115 nl An inability to digest lactose NOT_TRANSLATED +en An inability to digest starch HP:0041049 IAO:0000115 nl An inability to digest starch NOT_TRANSLATED +en An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes HP:0025233 IAO:0000115 nl An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes NOT_TRANSLATED +en An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name HP:0030784 IAO:0000115 nl An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name NOT_TRANSLATED +en An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell HP:0000458 IAO:0000115 nl An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell NOT_TRANSLATED +en An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed HP:0002033 IAO:0000115 nl An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed NOT_TRANSLATED +en An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction HP:0011690 IAO:0000115 nl An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction NOT_TRANSLATED +en An incisor with a half-moon shape incisal edge HP:0033782 IAO:0000115 nl An incisor with a half-moon shape incisal edge NOT_TRANSLATED +en An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering HP:0500074 IAO:0000115 nl An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering NOT_TRANSLATED +en An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals HP:0030032 IAO:0000115 nl An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals NOT_TRANSLATED +en An incomplete closure of the abdominal wall HP:0010866 IAO:0000115 nl An incomplete closure of the abdominal wall NOT_TRANSLATED +en An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration HP:0025459 IAO:0000115 nl An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration NOT_TRANSLATED +en An increase above the normal concentration of ribitol in the blood HP:0025550 IAO:0000115 nl An increase above the normal concentration of ribitol in the blood NOT_TRANSLATED +en An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface HP:0031391 IAO:0000115 nl An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface NOT_TRANSLATED +en An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells HP:0032125 IAO:0000115 nl An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells NOT_TRANSLATED +en An increase concentration of succinate in the blood circulation HP:0020149 IAO:0000115 nl An increase concentration of succinate in the blood circulation NOT_TRANSLATED +en An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell) HP:0009126 IAO:0000115 nl An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell) NOT_TRANSLATED +en An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal HP:0004719 IAO:0000115 nl An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal NOT_TRANSLATED +en An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation HP:0410146 IAO:0000115 nl An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation NOT_TRANSLATED +en An increase in bone density affecting the basicranium (base of the skull) HP:0005746 IAO:0000115 nl An increase in bone density affecting the basicranium (base of the skull) NOT_TRANSLATED +en An increase in bone density affecting the calvaria (roof of the skull) HP:0005450 IAO:0000115 nl An increase in bone density affecting the calvaria (roof of the skull) NOT_TRANSLATED +en An increase in bone density within the clavicle HP:0100923 IAO:0000115 nl An increase in bone density within the clavicle NOT_TRANSLATED +en An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes HP:0031319 IAO:0000115 nl An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes NOT_TRANSLATED +en An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins HP:0032335 IAO:0000115 nl An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED +en An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins HP:0032334 IAO:0000115 nl An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED +en An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins HP:0032337 IAO:0000115 nl An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED +en An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins HP:0032338 IAO:0000115 nl An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED +en An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase HP:0032332 IAO:0000115 nl An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase NOT_TRANSLATED +en An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins HP:0032290 IAO:0000115 nl An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED +en An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins HP:0032289 IAO:0000115 nl An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins NOT_TRANSLATED +en An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units) HP:0032089 IAO:0000115 nl An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units) NOT_TRANSLATED +en An increase in concentration of cathepsin D in the blood circulation HP:0033182 IAO:0000115 nl An increase in concentration of cathepsin D in the blood circulation NOT_TRANSLATED +en An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization HP:0032571 IAO:0000115 nl An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization NOT_TRANSLATED +en An increase in heart rate with standing of 30 beats per minute or more HP:0012173 IAO:0000115 nl An increase in heart rate with standing of 30 beats per minute or more NOT_TRANSLATED +en An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy HP:0030759 IAO:0000115 nl An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy NOT_TRANSLATED +en An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains HP:0032288 IAO:0000115 nl An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains NOT_TRANSLATED +en An increase in size of the anatomic space between the arachnoid membrane and pia mater HP:0012704 IAO:0000115 nl An increase in size of the anatomic space between the arachnoid membrane and pia mater NOT_TRANSLATED +en An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum HP:0012765 IAO:0000115 nl An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum NOT_TRANSLATED +en An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum HP:0012766 IAO:0000115 nl An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum NOT_TRANSLATED +en An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure) HP:0100952 IAO:0000115 nl An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure) NOT_TRANSLATED +en An increase in size of the third ventricle HP:0007082 IAO:0000115 nl An increase in size of the third ventricle NOT_TRANSLATED +en An increase in size of the ventricular system of the brain HP:0002119 IAO:0000115 nl An increase in size of the ventricular system of the brain NOT_TRANSLATED +en An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject HP:0033350 IAO:0000115 nl An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject NOT_TRANSLATED +en An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway) HP:0033709 IAO:0000115 nl An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway) NOT_TRANSLATED +en An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen) HP:0030995 IAO:0000115 nl An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen) NOT_TRANSLATED +en An increase in the amount of glycogen stored in hepatocytes compared to normal HP:0006568 IAO:0000115 nl An increase in the amount of glycogen stored in hepatocytes compared to normal NOT_TRANSLATED +en An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood HP:0011105 IAO:0000115 nl An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood NOT_TRANSLATED +en An increase in the amount of very-low-density lipoprotein cholesterol in the blood HP:0003362 IAO:0000115 nl An increase in the amount of very-low-density lipoprotein cholesterol in the blood NOT_TRANSLATED +en An increase in the combined thickness of the intima and media of the carotid artery HP:0012273 IAO:0000115 nl An increase in the combined thickness of the intima and media of the carotid artery NOT_TRANSLATED +en An increase in the concentration of bile acid in the blood HP:0012202 IAO:0000115 nl An increase in the concentration of bile acid in the blood NOT_TRANSLATED +en An increase in the degree of curvature of the cornea compared to normal HP:0100692 IAO:0000115 nl An increase in the degree of curvature of the cornea compared to normal NOT_TRANSLATED +en An increase in the diameter of the ring (annulus) of the mitral valve HP:0031479 IAO:0000115 nl An increase in the diameter of the ring (annulus) of the mitral valve NOT_TRANSLATED +en An increase in the diameter of the ring (annulus) of the tricuspid valve HP:0031444 IAO:0000115 nl An increase in the diameter of the ring (annulus) of the tricuspid valve NOT_TRANSLATED +en An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces HP:0012679 IAO:0000115 nl An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces NOT_TRANSLATED +en An increase in the length of time required for food to pass through the intestines HP:0410204 IAO:0000115 nl An increase in the length of time required for food to pass through the intestines NOT_TRANSLATED +en An increase in the level of 2-hydroxyadipic acid in the urine HP:0034465 IAO:0000115 nl An increase in the level of 2-hydroxyadipic acid in the urine NOT_TRANSLATED +en An increase in the level of 2-hydroxyglutaric acid in the urine HP:0032278 IAO:0000115 nl An increase in the level of 2-hydroxyglutaric acid in the urine NOT_TRANSLATED +en An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine HP:0410051 IAO:0000115 nl An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine NOT_TRANSLATED +en An increase in the level of 3-hydroxydicarboxylic acid in the urine HP:0008160 IAO:0000115 nl An increase in the level of 3-hydroxydicarboxylic acid in the urine NOT_TRANSLATED +en An increase in the level of D-threitol in the cerebrospinal fluid HP:0410058 IAO:0000115 nl An increase in the level of D-threitol in the cerebrospinal fluid NOT_TRANSLATED +en An increase in the level of D-threitol in the plasma HP:0410057 IAO:0000115 nl An increase in the level of D-threitol in the plasma NOT_TRANSLATED +en An increase in the level of D-threitol in the urine HP:0410059 IAO:0000115 nl An increase in the level of D-threitol in the urine NOT_TRANSLATED +en An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation HP:0410053 IAO:0000115 nl An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation NOT_TRANSLATED +en An increase in the level of L-2-hydroxyglutaric acid in the urine HP:0040144 IAO:0000115 nl An increase in the level of L-2-hydroxyglutaric acid in the urine NOT_TRANSLATED +en An increase in the level of L-fucose in the urine HP:0410067 IAO:0000115 nl An increase in the level of L-fucose in the urine NOT_TRANSLATED +en An increase in the level of L-glutamic acid in the blood HP:0410068 IAO:0000115 nl An increase in the level of L-glutamic acid in the blood NOT_TRANSLATED +en An increase in the level of L-pyroglutamic acid in the urine HP:0410132 IAO:0000115 nl An increase in the level of L-pyroglutamic acid in the urine NOT_TRANSLATED +en An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025053 IAO:0000115 nl An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An increase in the level of N-acetylneuraminic acid in cultured fibroblasts HP:0410157 IAO:0000115 nl An increase in the level of N-acetylneuraminic acid in cultured fibroblasts NOT_TRANSLATED +en An increase in the level of N-acetylneuraminic acid in the urine HP:0410156 IAO:0000115 nl An increase in the level of N-acetylneuraminic acid in the urine NOT_TRANSLATED +en An increase in the level of allantoin in the serum HP:0410052 IAO:0000115 nl An increase in the level of allantoin in the serum NOT_TRANSLATED +en An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) HP:0012706 IAO:0000115 nl An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) HP:0025050 IAO:0000115 nl An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An increase in the level of galactitol in the plasma HP:0410061 IAO:0000115 nl An increase in the level of galactitol in the plasma NOT_TRANSLATED +en An increase in the level of galactitol in the red blood cells HP:0410064 IAO:0000115 nl An increase in the level of galactitol in the red blood cells NOT_TRANSLATED +en An increase in the level of galactitol in the urine HP:0410062 IAO:0000115 nl An increase in the level of galactitol in the urine NOT_TRANSLATED +en An increase in the level of galactonate in the red blood cells HP:0410063 IAO:0000115 nl An increase in the level of galactonate in the red blood cells NOT_TRANSLATED +en An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot HP:0410181 IAO:0000115 nl An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot NOT_TRANSLATED +en An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes HP:0410191 IAO:0000115 nl An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes NOT_TRANSLATED +en An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells HP:0410189 IAO:0000115 nl An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells NOT_TRANSLATED +en An increase in the level of glucose-6-phosphate dehydrogenase in the blood HP:0410178 IAO:0000115 nl An increase in the level of glucose-6-phosphate dehydrogenase in the blood NOT_TRANSLATED +en An increase in the level of glucose-6-phosphate dehydrogenase in tissue HP:0410186 IAO:0000115 nl An increase in the level of glucose-6-phosphate dehydrogenase in tissue NOT_TRANSLATED +en An increase in the level of hippuric acid in the blood HP:0410065 IAO:0000115 nl An increase in the level of hippuric acid in the blood NOT_TRANSLATED +en An increase in the level of hippuric acid in the urine HP:0410066 IAO:0000115 nl An increase in the level of hippuric acid in the urine NOT_TRANSLATED +en An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood HP:0410175 IAO:0000115 nl An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood NOT_TRANSLATED +en An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) HP:0012707 IAO:0000115 nl An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An increase in the level of long-chain dicarboxylic acid in the urine HP:0008293 IAO:0000115 nl An increase in the level of long-chain dicarboxylic acid in the urine NOT_TRANSLATED +en An increase in the level of medium chain dicarboxylic acid in the urine HP:0008309 IAO:0000115 nl An increase in the level of medium chain dicarboxylic acid in the urine NOT_TRANSLATED +en An increase in the level of methylsuccinic acid in the urine HP:0410153 IAO:0000115 nl An increase in the level of methylsuccinic acid in the urine NOT_TRANSLATED +en An increase in the level of myristic acid in the serum HP:0410154 IAO:0000115 nl An increase in the level of myristic acid in the serum NOT_TRANSLATED +en An increase in the level of propylene glycol in the blood HP:0410069 IAO:0000115 nl An increase in the level of propylene glycol in the blood NOT_TRANSLATED +en An increase in the level of ribitol in the cerebral spinal fluid HP:0410071 IAO:0000115 nl An increase in the level of ribitol in the cerebral spinal fluid NOT_TRANSLATED +en An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose HP:0410070 IAO:0000115 nl An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose NOT_TRANSLATED +en An increase in the level of ribose in the cerebrospinal fluid HP:0410073 IAO:0000115 nl An increase in the level of ribose in the cerebrospinal fluid NOT_TRANSLATED +en An increase in the level of ribose in the urine HP:0410072 IAO:0000115 nl An increase in the level of ribose in the urine NOT_TRANSLATED +en An increase in the level of succinate in the urine HP:0033092 IAO:0000115 nl An increase in the level of succinate in the urine NOT_TRANSLATED +en An increase in the level of xylitol in the cerebrospinal fluid HP:0410075 IAO:0000115 nl An increase in the level of xylitol in the cerebrospinal fluid NOT_TRANSLATED +en An increase in the level of xylitol in the urine HP:0410074 IAO:0000115 nl An increase in the level of xylitol in the urine NOT_TRANSLATED +en An increase in the magnitude or amount of ossification of the skull HP:0004330 IAO:0000115 nl An increase in the magnitude or amount of ossification of the skull NOT_TRANSLATED +en An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA HP:0030387 IAO:0000115 nl An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA NOT_TRANSLATED +en An increase in the number of calories used per unit time HP:0012339 IAO:0000115 nl An increase in the number of calories used per unit time NOT_TRANSLATED +en An increase in the number of chromosome sets per cell in bone marrow cells HP:0003352 IAO:0000115 nl An increase in the number of chromosome sets per cell in bone marrow cells NOT_TRANSLATED +en An increase in the number of eosinophils in myocardial tissue HP:0031323 IAO:0000115 nl An increase in the number of eosinophils in myocardial tissue NOT_TRANSLATED +en An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium) HP:0031321 IAO:0000115 nl An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium) NOT_TRANSLATED +en An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels HP:0031330 IAO:0000115 nl An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels NOT_TRANSLATED +en An increase in the number of lymphocytes in myocardial tissue HP:0031322 IAO:0000115 nl An increase in the number of lymphocytes in myocardial tissue NOT_TRANSLATED +en An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells HP:0010998 IAO:0000115 nl An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells NOT_TRANSLATED +en An increase in the quantity of space occupied by the thalamus HP:0012694 IAO:0000115 nl An increase in the quantity of space occupied by the thalamus NOT_TRANSLATED +en An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation HP:0033240 IAO:0000115 nl An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation NOT_TRANSLATED +en An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels HP:0003529 IAO:0000115 nl An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels NOT_TRANSLATED +en An increase in the thickness of the pleura, generally related to scarring of the pleural tissue HP:0031944 IAO:0000115 nl An increase in the thickness of the pleura, generally related to scarring of the pleural tissue NOT_TRANSLATED +en An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space HP:0030320 IAO:0000115 nl An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space NOT_TRANSLATED +en An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410194 IAO:0000115 nl An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED +en An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose HP:0410197 IAO:0000115 nl An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose NOT_TRANSLATED +en An increase in voltage of the PR segment above baseline HP:0031597 IAO:0000115 nl An increase in voltage of the PR segment above baseline NOT_TRANSLATED +en An increase in width in one or more phalanges of the big toe HP:0010059 IAO:0000115 nl An increase in width in one or more phalanges of the big toe NOT_TRANSLATED +en An increase in width of one ore more proximal toe phalanges HP:0010204 IAO:0000115 nl An increase in width of one ore more proximal toe phalanges NOT_TRANSLATED +en An increase in width of the distal phalanx of the big toe HP:0010077 IAO:0000115 nl An increase in width of the distal phalanx of the big toe NOT_TRANSLATED +en An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an HE stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.) HP:0200146 IAO:0000115 nl An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an HE stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.) NOT_TRANSLATED +en An increase of the diameter of elastic fibers in the dermis HP:0025166 IAO:0000115 nl An increase of the diameter of elastic fibers in the dermis NOT_TRANSLATED +en An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid HP:0002516 IAO:0000115 nl An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid NOT_TRANSLATED +en An increased CPK level between 4X and 50X above the upper normal level HP:0030234 IAO:0000115 nl An increased CPK level between 4X and 50X above the upper normal level NOT_TRANSLATED +en An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA HP:0040240 IAO:0000115 nl An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA NOT_TRANSLATED +en An increased amount of 2-hydroxybutyric acid in the urine HP:0033409 IAO:0000115 nl An increased amount of 2-hydroxybutyric acid in the urine NOT_TRANSLATED +en An increased amount of 3-aminoisobutyric acid in the urine HP:0045034 IAO:0000115 nl An increased amount of 3-aminoisobutyric acid in the urine NOT_TRANSLATED +en An increased amount of 3-hydroxybutyric acid in the urine HP:0040155 IAO:0000115 nl An increased amount of 3-hydroxybutyric acid in the urine NOT_TRANSLATED +en An increased amount of 3-methylglutaconic acid in the urine HP:0003535 IAO:0000115 nl An increased amount of 3-methylglutaconic acid in the urine NOT_TRANSLATED +en An increased amount of 4-hydroxybutyric acid in the urine HP:0032528 IAO:0000115 nl An increased amount of 4-hydroxybutyric acid in the urine NOT_TRANSLATED +en An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders HP:0034464 IAO:0000115 nl An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders NOT_TRANSLATED +en An increased amount of arginine levels in the blood HP:0500153 IAO:0000115 nl An increased amount of arginine levels in the blood NOT_TRANSLATED +en An increased amount of asparagine in the blood HP:0500156 IAO:0000115 nl An increased amount of asparagine in the blood NOT_TRANSLATED +en An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine HP:0032480 IAO:0000115 nl An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine NOT_TRANSLATED +en An increased amount of bilirubin in the blood HP:0002904 IAO:0000115 nl An increased amount of bilirubin in the blood NOT_TRANSLATED +en An increased amount of calprotectin in the feces HP:0034056 IAO:0000115 nl An increased amount of calprotectin in the feces NOT_TRANSLATED +en An increased amount of carboxylic acid in the urine HP:0040156 IAO:0000115 nl An increased amount of carboxylic acid in the urine NOT_TRANSLATED +en An increased amount of carnosine in the blood HP:0500161 IAO:0000115 nl An increased amount of carnosine in the blood NOT_TRANSLATED +en An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space HP:0012510 IAO:0000115 nl An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space NOT_TRANSLATED +en An increased amount of creatinine in the blood HP:0003259 IAO:0000115 nl An increased amount of creatinine in the blood NOT_TRANSLATED +en An increased amount of cystine in the blood HP:0500151 IAO:0000115 nl An increased amount of cystine in the blood NOT_TRANSLATED +en An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin HP:0025083 IAO:0000115 nl An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin NOT_TRANSLATED +en An increased amount of glutamate in the blood HP:0500149 IAO:0000115 nl An increased amount of glutamate in the blood NOT_TRANSLATED +en An increased amount of glycogen in muscle tissue HP:0009051 IAO:0000115 nl An increased amount of glycogen in muscle tissue NOT_TRANSLATED +en An increased amount of glycogen in muscle tissue found specifically in lysosomes HP:0030231 IAO:0000115 nl An increased amount of glycogen in muscle tissue found specifically in lysosomes NOT_TRANSLATED +en An increased amount of hexanoic acid in the urine HP:0034497 IAO:0000115 nl An increased amount of hexanoic acid in the urine NOT_TRANSLATED +en An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid HP:0034466 IAO:0000115 nl An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid NOT_TRANSLATED +en An increased amount of homogentisic acid in the urine HP:0033704 IAO:0000115 nl An increased amount of homogentisic acid in the urine NOT_TRANSLATED +en An increased amount of iron in the bone marrow HP:0034499 IAO:0000115 nl An increased amount of iron in the bone marrow NOT_TRANSLATED +en An increased amount of nicotinurate in the blood HP:0410206 IAO:0000115 nl An increased amount of nicotinurate in the blood NOT_TRANSLATED +en An increased amount of nitrogen in the form of urea in the blood HP:0003138 IAO:0000115 nl An increased amount of nitrogen in the form of urea in the blood NOT_TRANSLATED +en An increased amount of prostaglandin E2 in the urine HP:0034049 IAO:0000115 nl An increased amount of prostaglandin E2 in the urine NOT_TRANSLATED +en An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine HP:0034050 IAO:0000115 nl An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine NOT_TRANSLATED +en An increased amount of pyridinoline in the urine HP:0033385 IAO:0000115 nl An increased amount of pyridinoline in the urine NOT_TRANSLATED +en An increased amount of serine in the blood HP:0500138 IAO:0000115 nl An increased amount of serine in the blood NOT_TRANSLATED +en An increased amount of subcutaneous fat tissue around the neck HP:0000468 IAO:0000115 nl An increased amount of subcutaneous fat tissue around the neck NOT_TRANSLATED +en An increased amount of subcutaneous fat tissue in the face HP:0000287 IAO:0000115 nl An increased amount of subcutaneous fat tissue in the face NOT_TRANSLATED +en An increased amount of taurine in the blood HP:0500181 IAO:0000115 nl An increased amount of taurine in the blood NOT_TRANSLATED +en An increased amount of tryptophan in the blood HP:0500134 IAO:0000115 nl An increased amount of tryptophan in the blood NOT_TRANSLATED +en An increased amount of unconjugated (indirect) bilurubin in the blood HP:0008282 IAO:0000115 nl An increased amount of unconjugated (indirect) bilurubin in the blood NOT_TRANSLATED +en An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis HP:0032068 IAO:0000115 nl An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis NOT_TRANSLATED +en An increased amount of urobilinogen present in the stool HP:0500115 IAO:0000115 nl An increased amount of urobilinogen present in the stool NOT_TRANSLATED +en An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine HP:0020150 IAO:0000115 nl An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine NOT_TRANSLATED +en An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer HP:0031030 IAO:0000115 nl An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer NOT_TRANSLATED +en An increased blood concentration of cartilage oligomeric matrix protein (COMP) HP:0033410 IAO:0000115 nl An increased blood concentration of cartilage oligomeric matrix protein (COMP) NOT_TRANSLATED +en An increased blood concentration of myoglobin HP:0033438 IAO:0000115 nl An increased blood concentration of myoglobin NOT_TRANSLATED +en An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker HP:0031029 IAO:0000115 nl An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker NOT_TRANSLATED +en An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle HP:0032189 IAO:0000115 nl An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle NOT_TRANSLATED +en An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle HP:0032188 IAO:0000115 nl An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle NOT_TRANSLATED +en An increased circulation of arachidonic acid in the blood circulation HP:0020197 IAO:0000115 nl An increased circulation of arachidonic acid in the blood circulation NOT_TRANSLATED +en An increased circulation of galectin-3 in the blood circulation HP:0032205 IAO:0000115 nl An increased circulation of galectin-3 in the blood circulation NOT_TRANSLATED +en An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism HP:0031800 IAO:0000115 nl An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism NOT_TRANSLATED +en An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II HP:0025202 IAO:0000115 nl An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II NOT_TRANSLATED +en An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons HP:0033112 IAO:0000115 nl An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons NOT_TRANSLATED +en An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent HP:0033417 IAO:0000115 nl An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent NOT_TRANSLATED +en An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism HP:0032377 IAO:0000115 nl An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism NOT_TRANSLATED +en An increased concentration of 2-ethylhydracylic acid in the urine HP:0033220 IAO:0000115 nl An increased concentration of 2-ethylhydracylic acid in the urine NOT_TRANSLATED +en An increased concentration of 2-hydroxyglutaric acid in the urine HP:0012321 IAO:0000115 nl An increased concentration of 2-hydroxyglutaric acid in the urine NOT_TRANSLATED +en An increased concentration of 4-hydroxy-L-proline in the urine HP:0003080 IAO:0000115 nl An increased concentration of 4-hydroxy-L-proline in the urine NOT_TRANSLATED +en An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation HP:0033326 IAO:0000115 nl An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation NOT_TRANSLATED +en An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine HP:0003163 IAO:0000115 nl An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine NOT_TRANSLATED +en An increased concentration of C-C motif chemokine ligand 18 in the blood circulation HP:0032640 IAO:0000115 nl An increased concentration of C-C motif chemokine ligand 18 in the blood circulation NOT_TRANSLATED +en An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation HP:0033106 IAO:0000115 nl An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation NOT_TRANSLATED +en An increased concentration of E selectin in the blood circulation HP:0032240 IAO:0000115 nl An increased concentration of E selectin in the blood circulation NOT_TRANSLATED +en An increased concentration of L-phenylalanine in the blood HP:0004923 IAO:0000115 nl An increased concentration of L-phenylalanine in the blood NOT_TRANSLATED +en An increased concentration of N,N-dimethylglycine in the circulation HP:0031945 IAO:0000115 nl An increased concentration of N,N-dimethylglycine in the circulation NOT_TRANSLATED +en An increased concentration of N,N-dimethylglycine in the urine HP:0031946 IAO:0000115 nl An increased concentration of N,N-dimethylglycine in the urine NOT_TRANSLATED +en An increased concentration of a branched chain amino acid in the blood HP:0008344 IAO:0000115 nl An increased concentration of a branched chain amino acid in the blood NOT_TRANSLATED +en An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis HP:0032094 IAO:0000115 nl An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis NOT_TRANSLATED +en An increased concentration of aconitic acid in the blood circulation HP:0033179 IAO:0000115 nl An increased concentration of aconitic acid in the blood circulation NOT_TRANSLATED +en An increased concentration of adrenaline in the urine HP:0003639 IAO:0000115 nl An increased concentration of adrenaline in the urine NOT_TRANSLATED +en An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation HP:0020158 IAO:0000115 nl An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation NOT_TRANSLATED +en An increased concentration of alanine in the blood HP:0003348 IAO:0000115 nl An increased concentration of alanine in the blood NOT_TRANSLATED +en An increased concentration of all types of amino acid in the urine HP:0002909 IAO:0000115 nl An increased concentration of all types of amino acid in the urine NOT_TRANSLATED +en An increased concentration of alpha-fetoprotein HP:0006254 IAO:0000115 nl An increased concentration of alpha-fetoprotein NOT_TRANSLATED +en An increased concentration of ammonia in the blood HP:0001987 IAO:0000115 nl An increased concentration of ammonia in the blood NOT_TRANSLATED +en An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy HP:0008162 IAO:0000115 nl An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy NOT_TRANSLATED +en An increased concentration of ammonia in the blood with sudden onset HP:0008281 IAO:0000115 nl An increased concentration of ammonia in the blood with sudden onset NOT_TRANSLATED +en An increased concentration of an amino acid in the urine HP:0003355 IAO:0000115 nl An increased concentration of an amino acid in the urine NOT_TRANSLATED +en An increased concentration of asparagine in the urine HP:0032403 IAO:0000115 nl An increased concentration of asparagine in the urine NOT_TRANSLATED +en An increased concentration of aspartic acid in the blood circulation HP:0500159 IAO:0000115 nl An increased concentration of aspartic acid in the blood circulation NOT_TRANSLATED +en An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption HP:0031991 IAO:0000115 nl An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption NOT_TRANSLATED +en An increased concentration of beta-sitosterol in the blood circulation HP:0033341 IAO:0000115 nl An increased concentration of beta-sitosterol in the blood circulation NOT_TRANSLATED +en An increased concentration of brain natriuretic peptide in the blood circulation HP:0033534 IAO:0000115 nl An increased concentration of brain natriuretic peptide in the blood circulation NOT_TRANSLATED +en An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3 HP:0031414 IAO:0000115 nl An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3 NOT_TRANSLATED +en An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 HP:0031415 IAO:0000115 nl An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3 NOT_TRANSLATED +en An increased concentration of carnosine in the urine HP:0003167 IAO:0000115 nl An increased concentration of carnosine in the urine NOT_TRANSLATED +en An increased concentration of catecholamine in the urine HP:0011976 IAO:0000115 nl An increased concentration of catecholamine in the urine NOT_TRANSLATED +en An increased concentration of chloride in the sweat HP:0012236 IAO:0000115 nl An increased concentration of chloride in the sweat NOT_TRANSLATED +en An increased concentration of chloride in the urine HP:0002914 IAO:0000115 nl An increased concentration of chloride in the urine NOT_TRANSLATED +en An increased concentration of cholesterol in the blood HP:0003124 IAO:0000115 nl An increased concentration of cholesterol in the blood NOT_TRANSLATED +en An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine HP:0012070 IAO:0000115 nl An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine NOT_TRANSLATED +en An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones HP:0031208 IAO:0000115 nl An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones NOT_TRANSLATED +en An increased concentration of citrulline in the blood HP:0011966 IAO:0000115 nl An increased concentration of citrulline in the blood NOT_TRANSLATED +en An increased concentration of citrulline in the urine HP:0032397 IAO:0000115 nl An increased concentration of citrulline in the urine NOT_TRANSLATED +en An increased concentration of copper in the urine HP:0010839 IAO:0000115 nl An increased concentration of copper in the urine NOT_TRANSLATED +en An increased concentration of cystathionine in the blood HP:0003286 IAO:0000115 nl An increased concentration of cystathionine in the blood NOT_TRANSLATED +en An increased concentration of cysteine in the urine HP:0034467 IAO:0000115 nl An increased concentration of cysteine in the urine NOT_TRANSLATED +en An increased concentration of cystine in the urine HP:0003131 IAO:0000115 nl An increased concentration of cystine in the urine NOT_TRANSLATED +en An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells HP:0003358 IAO:0000115 nl An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells NOT_TRANSLATED +en An increased concentration of cystine within white blood cells HP:0032639 IAO:0000115 nl An increased concentration of cystine within white blood cells NOT_TRANSLATED +en An increased concentration of dermatan sulfate in the urine HP:0008301 IAO:0000115 nl An increased concentration of dermatan sulfate in the urine NOT_TRANSLATED +en An increased concentration of dicarboxylic acid in the urine HP:0003215 IAO:0000115 nl An increased concentration of dicarboxylic acid in the urine NOT_TRANSLATED +en An increased concentration of dopamine in the urine HP:0011979 IAO:0000115 nl An increased concentration of dopamine in the urine NOT_TRANSLATED +en An increased concentration of ethylmalonic acid in the urine HP:0003219 IAO:0000115 nl An increased concentration of ethylmalonic acid in the urine NOT_TRANSLATED +en An increased concentration of fructose 1,6-bisphosphate aldolase in the serum HP:0012544 IAO:0000115 nl An increased concentration of fructose 1,6-bisphosphate aldolase in the serum NOT_TRANSLATED +en An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation HP:0033504 IAO:0000115 nl An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation NOT_TRANSLATED +en An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid HP:0033503 IAO:0000115 nl An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid NOT_TRANSLATED +en An increased concentration of glucose in the blood HP:0003074 IAO:0000115 nl An increased concentration of glucose in the blood NOT_TRANSLATED +en An increased concentration of glucose in the blood following a meal HP:0011998 IAO:0000115 nl An increased concentration of glucose in the blood following a meal NOT_TRANSLATED +en An increased concentration of glucose in the urine HP:0003076 IAO:0000115 nl An increased concentration of glucose in the urine NOT_TRANSLATED +en An increased concentration of glutamate in the urine HP:0033094 IAO:0000115 nl An increased concentration of glutamate in the urine NOT_TRANSLATED +en An increased concentration of glutamine in the blood HP:0003217 IAO:0000115 nl An increased concentration of glutamine in the blood NOT_TRANSLATED +en An increased concentration of glutamine in the urine HP:0025376 IAO:0000115 nl An increased concentration of glutamine in the urine NOT_TRANSLATED +en An increased concentration of glutaric acid in the blood HP:0003530 IAO:0000115 nl An increased concentration of glutaric acid in the blood NOT_TRANSLATED +en An increased concentration of glutaric acid in the urine HP:0003150 IAO:0000115 nl An increased concentration of glutaric acid in the urine NOT_TRANSLATED +en An increased concentration of glycerol in the urine HP:0040301 IAO:0000115 nl An increased concentration of glycerol in the urine NOT_TRANSLATED +en An increased concentration of glycine in the urine HP:0003108 IAO:0000115 nl An increased concentration of glycine in the urine NOT_TRANSLATED +en An increased concentration of glycolate in the urine HP:0031981 IAO:0000115 nl An increased concentration of glycolate in the urine NOT_TRANSLATED +en An increased concentration of guanidinoacetic acid in the blood circulation HP:0034321 IAO:0000115 nl An increased concentration of guanidinoacetic acid in the blood circulation NOT_TRANSLATED +en An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements HP:0040217 IAO:0000115 nl An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements NOT_TRANSLATED +en An increased concentration of heparan sulfates in the urine HP:0002159 IAO:0000115 nl An increased concentration of heparan sulfates in the urine NOT_TRANSLATED +en An increased concentration of histidine in the blood HP:0010906 IAO:0000115 nl An increased concentration of histidine in the blood NOT_TRANSLATED +en An increased concentration of histidine in the urine HP:0002927 IAO:0000115 nl An increased concentration of histidine in the urine NOT_TRANSLATED +en An increased concentration of homocystine in the blood HP:0002160 IAO:0000115 nl An increased concentration of homocystine in the blood NOT_TRANSLATED +en An increased concentration of homocystine in the urine HP:0002156 IAO:0000115 nl An increased concentration of homocystine in the urine NOT_TRANSLATED +en An increased concentration of homovanillic acid in the urine HP:0011977 IAO:0000115 nl An increased concentration of homovanillic acid in the urine NOT_TRANSLATED +en An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover HP:0034463 IAO:0000115 nl An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover NOT_TRANSLATED +en An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation HP:0033387 IAO:0000115 nl An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation NOT_TRANSLATED +en An increased concentration of hydroxyproline in the blood HP:0003260 IAO:0000115 nl An increased concentration of hydroxyproline in the blood NOT_TRANSLATED +en An increased concentration of inosine in the blood circulation HP:0033339 IAO:0000115 nl An increased concentration of inosine in the blood circulation NOT_TRANSLATED +en An increased concentration of insulin combined with a decreased concentration of glucose in the blood HP:0000825 IAO:0000115 nl An increased concentration of insulin combined with a decreased concentration of glucose in the blood NOT_TRANSLATED +en An increased concentration of insulin in the blood HP:0000842 IAO:0000115 nl An increased concentration of insulin in the blood NOT_TRANSLATED +en An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake HP:0008283 IAO:0000115 nl An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake NOT_TRANSLATED +en An increased concentration of interleukin-12 in the blood circulation HP:0034487 IAO:0000115 nl An increased concentration of interleukin-12 in the blood circulation NOT_TRANSLATED +en An increased concentration of interleukin-13 in the blood circulation HP:0034488 IAO:0000115 nl An increased concentration of interleukin-13 in the blood circulation NOT_TRANSLATED +en An increased concentration of interleukin-18 in the blood circulation HP:0034447 IAO:0000115 nl An increased concentration of interleukin-18 in the blood circulation NOT_TRANSLATED +en An increased concentration of interleukin-2 in the blood circulation HP:0034489 IAO:0000115 nl An increased concentration of interleukin-2 in the blood circulation NOT_TRANSLATED +en An increased concentration of interleukin-4 in the blood circulation HP:0034490 IAO:0000115 nl An increased concentration of interleukin-4 in the blood circulation NOT_TRANSLATED +en An increased concentration of interleukin-5 in the blood circulation HP:0034491 IAO:0000115 nl An increased concentration of interleukin-5 in the blood circulation NOT_TRANSLATED +en An increased concentration of interleukin-6 in the blood circulation HP:0030783 IAO:0000115 nl An increased concentration of interleukin-6 in the blood circulation NOT_TRANSLATED +en An increased concentration of interleukin-8 in the circulation HP:0033178 IAO:0000115 nl An increased concentration of interleukin-8 in the circulation NOT_TRANSLATED +en An increased concentration of isoleucine in the blood HP:0010913 IAO:0000115 nl An increased concentration of isoleucine in the blood NOT_TRANSLATED +en An increased concentration of isoleucine in the urine HP:0032371 IAO:0000115 nl An increased concentration of isoleucine in the urine NOT_TRANSLATED +en An increased concentration of keratan sulfate in the urine HP:0012069 IAO:0000115 nl An increased concentration of keratan sulfate in the urine NOT_TRANSLATED +en An increased concentration of lactic acid in the urine HP:0003648 IAO:0000115 nl An increased concentration of lactic acid in the urine NOT_TRANSLATED +en An increased concentration of leptin in the blood HP:0031793 IAO:0000115 nl An increased concentration of leptin in the blood NOT_TRANSLATED +en An increased concentration of leucine in the blood HP:0010911 IAO:0000115 nl An increased concentration of leucine in the blood NOT_TRANSLATED +en An increased concentration of lysine in the blood HP:0002161 IAO:0000115 nl An increased concentration of lysine in the blood NOT_TRANSLATED +en An increased concentration of lysine in the urine HP:0003297 IAO:0000115 nl An increased concentration of lysine in the urine NOT_TRANSLATED +en An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation HP:0033154 IAO:0000115 nl An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation NOT_TRANSLATED +en An increased concentration of magnesium the urine HP:0012608 IAO:0000115 nl An increased concentration of magnesium the urine NOT_TRANSLATED +en An increased concentration of methionine in the blood HP:0003235 IAO:0000115 nl An increased concentration of methionine in the blood NOT_TRANSLATED +en An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter) HP:0020130 IAO:0000115 nl An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter) NOT_TRANSLATED +en An increased concentration of nitrogen compounds in the blood HP:0002157 IAO:0000115 nl An increased concentration of nitrogen compounds in the blood NOT_TRANSLATED +en An increased concentration of non ceruloplasmin bound copper in the blood HP:0010838 IAO:0000115 nl An increased concentration of non ceruloplasmin bound copper in the blood NOT_TRANSLATED +en An increased concentration of noradrenaline in the urine HP:0003345 IAO:0000115 nl An increased concentration of noradrenaline in the urine NOT_TRANSLATED +en An increased concentration of o-phosphoethanolamine in the blood circulation HP:0033406 IAO:0000115 nl An increased concentration of o-phosphoethanolamine in the blood circulation NOT_TRANSLATED +en An increased concentration of ornithine in the urine HP:0003532 IAO:0000115 nl An increased concentration of ornithine in the urine NOT_TRANSLATED +en An increased concentration of orotic acid in the urine HP:0003218 IAO:0000115 nl An increased concentration of orotic acid in the urine NOT_TRANSLATED +en An increased concentration of potassium(1+) in the urine HP:0003081 IAO:0000115 nl An increased concentration of potassium(1+) in the urine NOT_TRANSLATED +en An increased concentration of proline in the blood HP:0008358 IAO:0000115 nl An increased concentration of proline in the blood NOT_TRANSLATED +en An increased concentration of proline in the urine HP:0003137 IAO:0000115 nl An increased concentration of proline in the urine NOT_TRANSLATED +en An increased concentration of prostaglandin E2 in the blood HP:0003566 IAO:0000115 nl An increased concentration of prostaglandin E2 in the blood NOT_TRANSLATED +en An increased concentration of prostaglandin in the urine HP:0003527 IAO:0000115 nl An increased concentration of prostaglandin in the urine NOT_TRANSLATED +en An increased concentration of prostate specific antigen (PSA) in the circulation HP:0025020 IAO:0000115 nl An increased concentration of prostate specific antigen (PSA) in the circulation NOT_TRANSLATED +en An increased concentration of proteins in the blood HP:0002152 IAO:0000115 nl An increased concentration of proteins in the blood NOT_TRANSLATED +en An increased concentration of protoporphyrins in erythrocytes HP:0012187 IAO:0000115 nl An increased concentration of protoporphyrins in erythrocytes NOT_TRANSLATED +en An increased concentration of pyruvate in the blood HP:0003542 IAO:0000115 nl An increased concentration of pyruvate in the blood NOT_TRANSLATED +en An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine HP:0034026 IAO:0000115 nl An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine NOT_TRANSLATED +en An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group HP:0025157 IAO:0000115 nl An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group NOT_TRANSLATED +en An increased concentration of selenium in the blood circulation HP:0033191 IAO:0000115 nl An increased concentration of selenium in the blood circulation NOT_TRANSLATED +en An increased concentration of serum amyloid A in the blood circulation HP:0033332 IAO:0000115 nl An increased concentration of serum amyloid A in the blood circulation NOT_TRANSLATED +en An increased concentration of sodium(1+) in the urine HP:0012605 IAO:0000115 nl An increased concentration of sodium(1+) in the urine NOT_TRANSLATED +en An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane HP:0033177 IAO:0000115 nl An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane NOT_TRANSLATED +en An increased concentration of the BB isoform of creatine kinase in the blood circulation HP:0032233 IAO:0000115 nl An increased concentration of the BB isoform of creatine kinase in the blood circulation NOT_TRANSLATED +en An increased concentration of the MB isoform of creatine kinase in the blood circulation HP:0032232 IAO:0000115 nl An increased concentration of the MB isoform of creatine kinase in the blood circulation NOT_TRANSLATED +en An increased concentration of the MM isoform of creatine kinase in the blood circulation HP:0032234 IAO:0000115 nl An increased concentration of the MM isoform of creatine kinase in the blood circulation NOT_TRANSLATED +en An increased concentration of threonine in the blood HP:0003354 IAO:0000115 nl An increased concentration of threonine in the blood NOT_TRANSLATED +en An increased concentration of threonine in the urine HP:0003296 IAO:0000115 nl An increased concentration of threonine in the urine NOT_TRANSLATED +en An increased concentration of tiglylglycine in the blood circulation HP:0034290 IAO:0000115 nl An increased concentration of tiglylglycine in the blood circulation NOT_TRANSLATED +en An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction HP:0410173 IAO:0000115 nl An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction NOT_TRANSLATED +en An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction HP:0410174 IAO:0000115 nl An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction NOT_TRANSLATED +en An increased concentration of tryptophan in the urine HP:0003361 IAO:0000115 nl An increased concentration of tryptophan in the urine NOT_TRANSLATED +en An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours HP:0032208 IAO:0000115 nl An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours NOT_TRANSLATED +en An increased concentration of tyrosine in the blood HP:0003231 IAO:0000115 nl An increased concentration of tyrosine in the blood NOT_TRANSLATED +en An increased concentration of urocanic acid in the urine HP:0012237 IAO:0000115 nl An increased concentration of urocanic acid in the urine NOT_TRANSLATED +en An increased concentration of valine in the blood HP:0010910 IAO:0000115 nl An increased concentration of valine in the blood NOT_TRANSLATED +en An increased concentration of vanillylmandelic acid in the urine HP:0011978 IAO:0000115 nl An increased concentration of vanillylmandelic acid in the urine NOT_TRANSLATED +en An increased concentration of xanthine in the urine HP:0010934 IAO:0000115 nl An increased concentration of xanthine in the urine NOT_TRANSLATED +en An increased consentration of zinc in the blood HP:0011424 IAO:0000115 nl An increased consentration of zinc in the blood NOT_TRANSLATED +en An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications HP:0032372 IAO:0000115 nl An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications NOT_TRANSLATED +en An increased count of granulocytes in the peripheral blood circulation HP:0032310 IAO:0000115 nl An increased count of granulocytes in the peripheral blood circulation NOT_TRANSLATED +en An increased creatine kinase level more than 50X above the upper normal level HP:0030235 IAO:0000115 nl An increased creatine kinase level more than 50X above the upper normal level NOT_TRANSLATED +en An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward HP:0012427 IAO:0000115 nl An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward NOT_TRANSLATED +en An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae) HP:0031194 IAO:0000115 nl An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED +en An increased density in the cranial sutures following obliteration HP:0005441 IAO:0000115 nl An increased density in the cranial sutures following obliteration NOT_TRANSLATED +en An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation HP:0025718 IAO:0000115 nl An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation NOT_TRANSLATED +en An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen HP:0003565 IAO:0000115 nl An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen NOT_TRANSLATED +en An increased excretion of phosphates in the urine HP:0003109 IAO:0000115 nl An increased excretion of phosphates in the urine NOT_TRANSLATED +en An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) HP:0034495 IAO:0000115 nl An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS) NOT_TRANSLATED +en An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane HP:0033213 IAO:0000115 nl An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane NOT_TRANSLATED +en An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids HP:0033098 IAO:0000115 nl An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids NOT_TRANSLATED +en An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase HP:0031213 IAO:0000115 nl An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase NOT_TRANSLATED +en An increased level of N-butyrylglycine in the urine HP:0025638 IAO:0000115 nl An increased level of N-butyrylglycine in the urine NOT_TRANSLATED +en An increased level of a branched chain family amino acid in the urine HP:0033089 IAO:0000115 nl An increased level of a branched chain family amino acid in the urine NOT_TRANSLATED +en An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His) HP:0003168 IAO:0000115 nl An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His) NOT_TRANSLATED +en An increased level of a serine family amino acid in the urine HP:0033099 IAO:0000115 nl An increased level of a serine family amino acid in the urine NOT_TRANSLATED +en An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies HP:0033408 IAO:0000115 nl An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies NOT_TRANSLATED +en An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies HP:0032533 IAO:0000115 nl An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies NOT_TRANSLATED +en An increased level of alanine in the urine HP:0020078 IAO:0000115 nl An increased level of alanine in the urine NOT_TRANSLATED +en An increased level of beta-alanine in the urine HP:0020079 IAO:0000115 nl An increased level of beta-alanine in the urine NOT_TRANSLATED +en An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover HP:0033355 IAO:0000115 nl An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover NOT_TRANSLATED +en An increased level of gamma globulin (immunoglobulin) in the blood HP:0010702 IAO:0000115 nl An increased level of gamma globulin (immunoglobulin) in the blood NOT_TRANSLATED +en An increased level of hypoxanthine in the urine HP:0011814 IAO:0000115 nl An increased level of hypoxanthine in the urine NOT_TRANSLATED +en An increased level of iduronate-2-sulfatase activity in the blood HP:0003538 IAO:0000115 nl An increased level of iduronate-2-sulfatase activity in the blood NOT_TRANSLATED +en An increased level of iron in liver tissues HP:0012465 IAO:0000115 nl An increased level of iron in liver tissues NOT_TRANSLATED +en An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine HP:0003239 IAO:0000115 nl An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine NOT_TRANSLATED +en An increased level of phosphoserine in the urine HP:0032405 IAO:0000115 nl An increased level of phosphoserine in the urine NOT_TRANSLATED +en An increased level of renin in the blood HP:0000848 IAO:0000115 nl An increased level of renin in the blood NOT_TRANSLATED +en An increased level of sorbitol in the blood circulation HP:0033124 IAO:0000115 nl An increased level of sorbitol in the blood circulation NOT_TRANSLATED +en An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation HP:0032491 IAO:0000115 nl An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation NOT_TRANSLATED +en An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma) HP:0032932 IAO:0000115 nl An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma) NOT_TRANSLATED +en An increased level of uracil in the cerebrospinal fluid HP:0034460 IAO:0000115 nl An increased level of uracil in the cerebrospinal fluid NOT_TRANSLATED +en An increased level of xanthine in the blood circulation HP:0010933 IAO:0000115 nl An increased level of xanthine in the blood circulation NOT_TRANSLATED +en An increased lipid content in the urine HP:0032567 IAO:0000115 nl An increased lipid content in the urine NOT_TRANSLATED +en An increased lymphocyte count in the cerebrospinal fluid HP:0200149 IAO:0000115 nl An increased lymphocyte count in the cerebrospinal fluid NOT_TRANSLATED +en An increased number and density of the trabeculae in the apex (tip) of the left ventricle HP:0031195 IAO:0000115 nl An increased number and density of the trabeculae in the apex (tip) of the left ventricle NOT_TRANSLATED +en An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml HP:0033163 IAO:0000115 nl An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml NOT_TRANSLATED +en An increased number of CD4-positive, CD25-positive regulatory T cells HP:0030337 IAO:0000115 nl An increased number of CD4-positive, CD25-positive regulatory T cells NOT_TRANSLATED +en An increased number of IgG4+ plasma cells in the interstitial space of the kidney HP:0033069 IAO:0000115 nl An increased number of IgG4+ plasma cells in the interstitial space of the kidney NOT_TRANSLATED +en An increased number of circulating monocytes HP:0012311 IAO:0000115 nl An increased number of circulating monocytes NOT_TRANSLATED +en An increased number of epithelial cells per high-power field in urinanalysis HP:0032211 IAO:0000115 nl An increased number of epithelial cells per high-power field in urinanalysis NOT_TRANSLATED +en An increased number of mitochondria detected in neutrophils HP:0041045 IAO:0000115 nl An increased number of mitochondria detected in neutrophils NOT_TRANSLATED +en An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus HP:0410257 IAO:0000115 nl An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus NOT_TRANSLATED +en An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders HP:0410258 IAO:0000115 nl An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders NOT_TRANSLATED +en An increased number of renal tubular epithelial cells per high-power field in urinanalysis HP:0032213 IAO:0000115 nl An increased number of renal tubular epithelial cells per high-power field in urinanalysis NOT_TRANSLATED +en An increased number of ribosomes detected in neutrophils HP:0041046 IAO:0000115 nl An increased number of ribosomes detected in neutrophils NOT_TRANSLATED +en An increased number of squamous epithelial cells per high-power field in urinanalysis HP:0032212 IAO:0000115 nl An increased number of squamous epithelial cells per high-power field in urinanalysis NOT_TRANSLATED +en An increased number of transitional epithelial cells per high-power field in urinanalysis HP:0032214 IAO:0000115 nl An increased number of transitional epithelial cells per high-power field in urinanalysis NOT_TRANSLATED +en An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels HP:0033250 IAO:0000115 nl An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels NOT_TRANSLATED +en An increased or decreased activity of the mitochondrial respiratory chain HP:0011922 IAO:0000115 nl An increased or decreased activity of the mitochondrial respiratory chain NOT_TRANSLATED +en An increased polymorphonuclear cell count in the cerebrospinal fluid HP:0012756 IAO:0000115 nl An increased polymorphonuclear cell count in the cerebrospinal fluid NOT_TRANSLATED +en An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative HP:0500265 IAO:0000115 nl An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative NOT_TRANSLATED +en An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410396 IAO:0000115 nl An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative HP:0410395 IAO:0000115 nl An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative NOT_TRANSLATED +en An increased proportion of eosinophils in sputum in the differentiated cell count HP:0032017 IAO:0000115 nl An increased proportion of eosinophils in sputum in the differentiated cell count NOT_TRANSLATED +en An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain) HP:0031408 IAO:0000115 nl An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain) NOT_TRANSLATED +en An increased proportion of terminal hairs compared to vellus hairs HP:0032496 IAO:0000115 nl An increased proportion of terminal hairs compared to vellus hairs NOT_TRANSLATED +en An increased quantity of earwax HP:0030789 IAO:0000115 nl An increased quantity of earwax NOT_TRANSLATED +en An increased rate of premature chromosome condensation HP:0003451 IAO:0000115 nl An increased rate of premature chromosome condensation NOT_TRANSLATED +en An increased rate of urine production HP:0000103 IAO:0000115 nl An increased rate of urine production NOT_TRANSLATED +en An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones HP:0006234 IAO:0000115 nl An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones NOT_TRANSLATED +en An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist HP:0032933 IAO:0000115 nl An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist NOT_TRANSLATED +en An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin HP:0000992 IAO:0000115 nl An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin NOT_TRANSLATED +en An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections HP:0002724 IAO:0000115 nl An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections NOT_TRANSLATED +en An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses HP:0002722 IAO:0000115 nl An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses NOT_TRANSLATED +en An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis HP:0007274 IAO:0000115 nl An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis NOT_TRANSLATED +en An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) HP:0031949 IAO:0000115 nl An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) NOT_TRANSLATED +en An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis HP:0100501 IAO:0000115 nl An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis NOT_TRANSLATED +en An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis HP:0002837 IAO:0000115 nl An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis NOT_TRANSLATED +en An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections HP:0006538 IAO:0000115 nl An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections NOT_TRANSLATED +en An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections HP:0005401 IAO:0000115 nl An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections NOT_TRANSLATED +en An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses HP:0100838 IAO:0000115 nl An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses NOT_TRANSLATED +en An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections HP:0005425 IAO:0000115 nl An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections NOT_TRANSLATED +en An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections HP:0002783 IAO:0000115 nl An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections NOT_TRANSLATED +en An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis HP:0006946 IAO:0000115 nl An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis NOT_TRANSLATED +en An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis HP:0100776 IAO:0000115 nl An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis NOT_TRANSLATED +en An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia HP:0006532 IAO:0000115 nl An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia NOT_TRANSLATED +en An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections HP:0002205 IAO:0000115 nl An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections NOT_TRANSLATED +en An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) HP:0002788 IAO:0000115 nl An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis) NOT_TRANSLATED +en An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis) HP:0033166 IAO:0000115 nl An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis) NOT_TRANSLATED +en An increased tendency to fractures following trauma, with fractures occurring without pain HP:0002661 IAO:0000115 nl An increased tendency to fractures following trauma, with fractures occurring without pain NOT_TRANSLATED +en An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna) HP:0003084 IAO:0000115 nl An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna) NOT_TRANSLATED +en An increased tendency towards thrombosis in the mother during a pregnancy HP:0040222 IAO:0000115 nl An increased tendency towards thrombosis in the mother during a pregnancy NOT_TRANSLATED +en An increased thickness of the eyelid not related to acute inflammation HP:0030939 IAO:0000115 nl An increased thickness of the eyelid not related to acute inflammation NOT_TRANSLATED +en An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine) HP:0008339 IAO:0000115 nl An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine) NOT_TRANSLATED +en An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat HP:0033533 IAO:0000115 nl An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat NOT_TRANSLATED +en An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium HP:0100297 IAO:0000115 nl An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium NOT_TRANSLATED +en An increased white blood cell count in the cerebrospinal fluid HP:0012229 IAO:0000115 nl An increased white blood cell count in the cerebrospinal fluid NOT_TRANSLATED +en An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement HP:0033125 IAO:0000115 nl An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement NOT_TRANSLATED +en An induration (hardening) of the skin HP:0030053 IAO:0000115 nl An induration (hardening) of the skin NOT_TRANSLATED +en An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically HP:0033988 IAO:0000115 nl An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically NOT_TRANSLATED +en An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically HP:0033989 IAO:0000115 nl An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically NOT_TRANSLATED +en An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions HP:0025714 IAO:0000115 nl An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions NOT_TRANSLATED +en An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay HP:0032250 IAO:0000115 nl An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay NOT_TRANSLATED +en An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines HP:0020097 IAO:0000115 nl An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines NOT_TRANSLATED +en An infection of a hair follicle that extends subcutaneously, forming an abscess HP:0020083 IAO:0000115 nl An infection of a hair follicle that extends subcutaneously, forming an abscess NOT_TRANSLATED +en An infection of bone of the foot HP:0001886 IAO:0000115 nl An infection of bone of the foot NOT_TRANSLATED +en An infection of the colon (colitis) by clostridium difficile HP:0032168 IAO:0000115 nl An infection of the colon (colitis) by clostridium difficile NOT_TRANSLATED +en An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease HP:0032261 IAO:0000115 nl An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease NOT_TRANSLATED +en An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis HP:0032159 IAO:0000115 nl An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis NOT_TRANSLATED +en An infection of the small intestine (enteritis) by clostridium difficile HP:0032167 IAO:0000115 nl An infection of the small intestine (enteritis) by clostridium difficile NOT_TRANSLATED +en An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period HP:0032435 IAO:0000115 nl An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period NOT_TRANSLATED +en An infection of the upper or lower respiratory tract HP:0011947 IAO:0000115 nl An infection of the upper or lower respiratory tract NOT_TRANSLATED +en An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens HP:0020085 IAO:0000115 nl An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens NOT_TRANSLATED +en An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system HP:0032260 IAO:0000115 nl An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system NOT_TRANSLATED +en An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system HP:0032255 IAO:0000115 nl An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system NOT_TRANSLATED +en An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system HP:0031690 IAO:0000115 nl An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system NOT_TRANSLATED +en An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease HP:0032283 IAO:0000115 nl An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease NOT_TRANSLATED +en An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction HP:0033993 IAO:0000115 nl An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction NOT_TRANSLATED +en An inflammation of the adenoid tissue HP:0031458 IAO:0000115 nl An inflammation of the adenoid tissue NOT_TRANSLATED +en An inflammation of the choroid and retina HP:0012424 IAO:0000115 nl An inflammation of the choroid and retina NOT_TRANSLATED +en An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine) HP:0004387 IAO:0000115 nl An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine) NOT_TRANSLATED +en An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves HP:0100584 IAO:0000115 nl An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves NOT_TRANSLATED +en An inflammation of the fallopian tube HP:0034492 IAO:0000115 nl An inflammation of the fallopian tube NOT_TRANSLATED +en An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices HP:0012330 IAO:0000115 nl An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices NOT_TRANSLATED +en An inflammation of the ovary or ovaries HP:0031259 IAO:0000115 nl An inflammation of the ovary or ovaries NOT_TRANSLATED +en An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures HP:0040310 IAO:0000115 nl An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures NOT_TRANSLATED +en An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea HP:0025341 IAO:0000115 nl An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea NOT_TRANSLATED +en An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever HP:0001019 IAO:0000115 nl An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever NOT_TRANSLATED +en An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis HP:0032282 IAO:0000115 nl An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis NOT_TRANSLATED +en An inflammed lymph node that is filled with pus HP:0033136 IAO:0000115 nl An inflammed lymph node that is filled with pus NOT_TRANSLATED +en An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function HP:0005684 IAO:0000115 nl An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function NOT_TRANSLATED +en An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones HP:0000510 IAO:0000115 nl An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones NOT_TRANSLATED +en An injury of the wrist with displacement of any of the eight carpal bones HP:0003994 IAO:0000115 nl An injury of the wrist with displacement of any of the eight carpal bones NOT_TRANSLATED +en An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material HP:0033226 IAO:0000115 nl An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material NOT_TRANSLATED +en An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle HP:0001659 IAO:0000115 nl An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle NOT_TRANSLATED +en An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa HP:0032143 IAO:0000115 nl An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa NOT_TRANSLATED +en An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting HP:0011567 IAO:0000115 nl An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting NOT_TRANSLATED +en An intermittent (discontinuous) form of lactic acidemia HP:0004913 IAO:0000115 nl An intermittent (discontinuous) form of lactic acidemia NOT_TRANSLATED +en An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction HP:0011706 IAO:0000115 nl An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction NOT_TRANSLATED +en An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep HP:0010535 IAO:0000115 nl An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep NOT_TRANSLATED +en An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging HP:0031762 IAO:0000115 nl An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging NOT_TRANSLATED +en An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved HP:0031722 IAO:0000115 nl An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved NOT_TRANSLATED +en An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio HP:0031766 IAO:0000115 nl An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio NOT_TRANSLATED +en An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant) HP:0031715 IAO:0000115 nl An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant) NOT_TRANSLATED +en An intermittent form of abdominal pain HP:0002574 IAO:0000115 nl An intermittent form of abdominal pain NOT_TRANSLATED +en An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern HP:0003205 IAO:0000115 nl An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern NOT_TRANSLATED +en An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern HP:0003226 IAO:0000115 nl An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern NOT_TRANSLATED +en An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern HP:0003208 IAO:0000115 nl An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern NOT_TRANSLATED +en An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses HP:0033724 IAO:0000115 nl An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses NOT_TRANSLATED +en An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells HP:0030441 IAO:0000115 nl An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells NOT_TRANSLATED +en An intraneuronal inclusion body composed of acid mucopolysaccharides HP:0100318 IAO:0000115 nl An intraneuronal inclusion body composed of acid mucopolysaccharides NOT_TRANSLATED +en An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile HP:0025116 IAO:0000115 nl An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile NOT_TRANSLATED +en An inversion of the T-wave (which is normally positive) HP:0010872 IAO:0000115 nl An inversion of the T-wave (which is normally positive) NOT_TRANSLATED +en An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade HP:0032114 IAO:0000115 nl An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade NOT_TRANSLATED +en An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade HP:0032104 IAO:0000115 nl An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade NOT_TRANSLATED +en An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation HP:0002486 IAO:0000115 nl An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation NOT_TRANSLATED +en An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold HP:0012904 IAO:0000115 nl An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold NOT_TRANSLATED +en An inward turning (inversion) of the margin of the upper eyelid HP:0025607 IAO:0000115 nl An inward turning (inversion) of the margin of the upper eyelid NOT_TRANSLATED +en An iris cyst is composed of a single cell layer of epithelium and is filled with fluid HP:0011523 IAO:0000115 nl An iris cyst is composed of a single cell layer of epithelium and is filled with fluid NOT_TRANSLATED +en An irregular surface of the vertebral end plates, which are normally relatively smooth HP:0003301 IAO:0000115 nl An irregular surface of the vertebral end plates, which are normally relatively smooth NOT_TRANSLATED +en An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains) HP:0030058 IAO:0000115 nl An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains) NOT_TRANSLATED +en An isolated cyst of the kidney HP:0012581 IAO:0000115 nl An isolated cyst of the kidney NOT_TRANSLATED +en An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist) HP:0030185 IAO:0000115 nl An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist) NOT_TRANSLATED +en An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis HP:0034247 IAO:0000115 nl An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis NOT_TRANSLATED +en An obstruction in the veins of the liver caused by a blood clot (thrombosis) HP:0030243 IAO:0000115 nl An obstruction in the veins of the liver caused by a blood clot (thrombosis) NOT_TRANSLATED +en An obstruction to the forward flow of blood in the outflow tract of the right ventricle HP:0001705 IAO:0000115 nl An obstruction to the forward flow of blood in the outflow tract of the right ventricle NOT_TRANSLATED +en An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them HP:0031775 IAO:0000115 nl An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them NOT_TRANSLATED +en An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye HP:0025594 IAO:0000115 nl An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye NOT_TRANSLATED +en An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result HP:0031622 IAO:0000115 nl An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result NOT_TRANSLATED +en An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye HP:0020042 IAO:0000115 nl An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye NOT_TRANSLATED +en An odontogenic tumor of the cementum of tooth HP:0012328 IAO:0000115 nl An odontogenic tumor of the cementum of tooth NOT_TRANSLATED +en An open funnel detachment of the retina with generally traction in all four quadrants HP:0500057 IAO:0000115 nl An open funnel detachment of the retina with generally traction in all four quadrants NOT_TRANSLATED +en An open sore of the nasal mucosa HP:0033361 IAO:0000115 nl An open sore of the nasal mucosa NOT_TRANSLATED +en An open sore on the surface of the skin of a finger or toe HP:0031917 IAO:0000115 nl An open sore on the surface of the skin of a finger or toe NOT_TRANSLATED +en An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid HP:0012470 IAO:0000115 nl An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid NOT_TRANSLATED +en An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing HP:0020102 IAO:0000115 nl An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing NOT_TRANSLATED +en An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) HP:0002664 IAO:0000115 nl An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour) NOT_TRANSLATED +en An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation HP:0032642 IAO:0000115 nl An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation NOT_TRANSLATED +en An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum HP:0010445 IAO:0000115 nl An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum NOT_TRANSLATED +en An outpouching of the gastric wall HP:0100808 IAO:0000115 nl An outpouching of the gastric wall NOT_TRANSLATED +en An outpouching of the spinal meninges HP:0010304 IAO:0000115 nl An outpouching of the spinal meninges NOT_TRANSLATED +en An outward deviation of the foot at the talocalcaneal or subtalar joint HP:0008081 IAO:0000115 nl An outward deviation of the foot at the talocalcaneal or subtalar joint NOT_TRANSLATED +en An outward turning (eversion) or rotation of the eyelid margin HP:0000656 IAO:0000115 nl An outward turning (eversion) or rotation of the eyelid margin NOT_TRANSLATED +en An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring HP:0025608 IAO:0000115 nl An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring NOT_TRANSLATED +en An overall widening of the spaces between the digits HP:0008094 IAO:0000115 nl An overall widening of the spaces between the digits NOT_TRANSLATED +en An overlap of the bony plates of the skull in an infant, with or without early closure HP:0010823 IAO:0000115 nl An overlap of the bony plates of the skull in an infant, with or without early closure NOT_TRANSLATED +en An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle HP:0002623 IAO:0000115 nl An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle NOT_TRANSLATED +en An reduced addition of sialic acids to O-linked glycans HP:0012363 IAO:0000115 nl An reduced addition of sialic acids to O-linked glycans NOT_TRANSLATED +en An reduced concentration of aspartic acid in the blood circulation HP:0034441 IAO:0000115 nl An reduced concentration of aspartic acid in the blood circulation NOT_TRANSLATED +en An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) HP:0032482 IAO:0000115 nl An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) NOT_TRANSLATED +en An reduced concentration of progesterone in the blood HP:0008233 IAO:0000115 nl An reduced concentration of progesterone in the blood NOT_TRANSLATED +en An reduction below the normal range of creatine in the blood circulation HP:0034292 IAO:0000115 nl An reduction below the normal range of creatine in the blood circulation NOT_TRANSLATED +en An reduction from normal levels of immunoglobulins in body fluids, such as mucous HP:0041078 IAO:0000115 nl An reduction from normal levels of immunoglobulins in body fluids, such as mucous NOT_TRANSLATED +en An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones HP:0009554 IAO:0000115 nl An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones NOT_TRANSLATED +en An ulcer of the colon due to pressure and irritation from retained fecal masses HP:0012425 IAO:0000115 nl An ulcer of the colon due to pressure and irritation from retained fecal masses NOT_TRANSLATED +en An ulcer, that is, an erosion of an area of the gastric mucous membrane HP:0002592 IAO:0000115 nl An ulcer, that is, an erosion of an area of the gastric mucous membrane NOT_TRANSLATED +en An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth HP:0012843 IAO:0000115 nl An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth NOT_TRANSLATED +en An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep HP:0025234 IAO:0000115 nl An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep NOT_TRANSLATED +en An uneven increase in bone density of one or more of the phalanges of the thumb HP:0009655 IAO:0000115 nl An uneven increase in bone density of one or more of the phalanges of the thumb NOT_TRANSLATED +en An uneven increase in bone density of the distal phalanx of the thumb HP:0009646 IAO:0000115 nl An uneven increase in bone density of the distal phalanx of the thumb NOT_TRANSLATED +en An uneven increase in bone density of the proximal phalanx of the thumb HP:0009634 IAO:0000115 nl An uneven increase in bone density of the proximal phalanx of the thumb NOT_TRANSLATED +en An unintentional, oscillating to-and-fro muscle movement about a joint axis HP:0001337 IAO:0000115 nl An unintentional, oscillating to-and-fro muscle movement about a joint axis NOT_TRANSLATED +en An unintentional, oscillating to-and-fro muscle movement affecting head movement HP:0002346 IAO:0000115 nl An unintentional, oscillating to-and-fro muscle movement affecting head movement NOT_TRANSLATED +en An unintentional, oscillating to-and-fro muscle movement affecting the hand HP:0002378 IAO:0000115 nl An unintentional, oscillating to-and-fro muscle movement affecting the hand NOT_TRANSLATED +en An unintentional, oscillating to-and-fro muscle movement affecting the lip HP:0032006 IAO:0000115 nl An unintentional, oscillating to-and-fro muscle movement affecting the lip NOT_TRANSLATED +en An unintentional, oscillating to-and-fro muscle movement affecting the tongue HP:0031947 IAO:0000115 nl An unintentional, oscillating to-and-fro muscle movement affecting the tongue NOT_TRANSLATED +en An unpleasant or harmful reaction resulting from treatment with a drug HP:0020172 IAO:0000115 nl An unpleasant or harmful reaction resulting from treatment with a drug NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen HP:0002027 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank HP:0030157 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat HP:0033050 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon HP:0032510 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone HP:0002653 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes HP:0033839 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle HP:0030840 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades HP:0033746 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm HP:0012513 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back HP:0003418 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest HP:0100749 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow HP:0030835 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye HP:0200026 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding HP:0030857 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger HP:0030837 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot HP:0025238 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region HP:0031520 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip HP:0030838 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw HP:0040264 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee HP:0030839 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg HP:0012514 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back HP:0003419 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible HP:0200025 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck HP:0030833 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum HP:0030155 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder HP:0030834 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe HP:0030841 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue HP:0030811 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case HP:0032171 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist HP:0030836 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist NOT_TRANSLATED +en An unpleasant sensation characterized by physical discomfort localized to the hand HP:0046505 IAO:0000115 nl An unpleasant sensation characterized by physical discomfort localized to the hand NOT_TRANSLATED +en An unpleasant sensation of tightness or pressure in the chest HP:0031352 IAO:0000115 nl An unpleasant sensation of tightness or pressure in the chest NOT_TRANSLATED +en An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage HP:0012531 IAO:0000115 nl An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage NOT_TRANSLATED +en An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent HP:0020100 IAO:0000115 nl An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent NOT_TRANSLATED +en An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth) HP:0020107 IAO:0000115 nl An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth) NOT_TRANSLATED +en An unusual infection classified by the affected body part HP:0032158 IAO:0000115 nl An unusual infection classified by the affected body part NOT_TRANSLATED +en An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite HP:0020108 IAO:0000115 nl An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite NOT_TRANSLATED +en An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent HP:0020104 IAO:0000115 nl An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent NOT_TRANSLATED +en An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger HP:0100024 IAO:0000115 nl An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger NOT_TRANSLATED +en An unusually severe Epstein Barr virus (EBV) infection HP:0031693 IAO:0000115 nl An unusually severe Epstein Barr virus (EBV) infection NOT_TRANSLATED +en An unusually severe adenovirus infection HP:0031694 IAO:0000115 nl An unusually severe adenovirus infection NOT_TRANSLATED +en An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals HP:0020099 IAO:0000115 nl An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals NOT_TRANSLATED +en An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella HP:0032170 IAO:0000115 nl An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella NOT_TRANSLATED +en An unusually severe infection by a parainfluenza virus HP:0031695 IAO:0000115 nl An unusually severe infection by a parainfluenza virus NOT_TRANSLATED +en An unusually severe infection by an influenza virus HP:0034249 IAO:0000115 nl An unusually severe infection by an influenza virus NOT_TRANSLATED +en An unusually severe infection by cytomegalovirus HP:0031692 IAO:0000115 nl An unusually severe infection by cytomegalovirus NOT_TRANSLATED +en An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide HP:0020106 IAO:0000115 nl An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide NOT_TRANSLATED +en An unusually severe viral infection HP:0031691 IAO:0000115 nl An unusually severe viral infection NOT_TRANSLATED +en An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal HP:0031583 IAO:0000115 nl An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal NOT_TRANSLATED +en Anagen effluvium HP:0025469 rdfs:label nl Anagene effluvium CANDIDATE +en Anal atresia HP:0002023 rdfs:label nl Anale atresie CANDIDATE +en Anal canal adenocarcinoma HP:0030439 rdfs:label nl Adenocarcinoom van anale kanaal CANDIDATE +en Anal canal neoplasm HP:0030437 rdfs:label nl Neoplasma van het anale kanaal CANDIDATE +en Anal canal squamous carcinoma HP:0006763 rdfs:label nl Plaveiselcelcarcinoom van anale kanaal CANDIDATE +en Anal canal squamous cell carcinoma HP:0030438 rdfs:label nl Plaveiselcelcarcinoom van anale kanaal CANDIDATE +en Anal fissure HP:0012390 rdfs:label nl Anale fissuur CANDIDATE +en Anal fistula HP:0010447 rdfs:label nl Anale fistel CANDIDATE +en Anal intraepithelial neoplasia HP:0032187 rdfs:label nl Anal intraepithelial neoplasia NOT_TRANSLATED +en Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer HP:0032187 IAO:0000115 nl Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer NOT_TRANSLATED +en Anal margin Paget's disease HP:0030441 rdfs:label nl Ziekte van Paget in anale marge CANDIDATE +en Anal margin basal cell carcinoma HP:0030443 rdfs:label nl Anale marge basaalcelcarcinoom CANDIDATE +en Anal margin melanoma HP:0030444 rdfs:label nl Anale marge melanoom CANDIDATE +en Anal margin neoplasm HP:0030440 rdfs:label nl Anale marge neoplasma CANDIDATE +en Anal margin squamous cell carcinoma HP:0030442 rdfs:label nl Anale marge plaveiselcelcarcinoom CANDIDATE +en Anal mucosal leukoplakia HP:0005212 rdfs:label nl Anale mucosale leukoplakie CANDIDATE +en Anal neoplasm HP:0032186 rdfs:label nl Anal neoplasm NOT_TRANSLATED +en Anal pain HP:0500005 rdfs:label nl Anale pijn CANDIDATE +en Anal stenosis HP:0002025 rdfs:label nl Anale stenose CANDIDATE +en Anaphylactic shock HP:0100845 rdfs:label nl Anafylactische shock CANDIDATE +en Anaphylaxis after physical activity HP:0410139 IAO:0000115 nl Anaphylaxis after physical activity NOT_TRANSLATED +en Anaplastic large-cell lymphoma HP:0012193 rdfs:label nl Anaplastisch grootcellig T-cel lymfoom CANDIDATE +en Anaplastic thyroid carcinoma HP:0011779 rdfs:label nl Anaplastisch schildkliercarcinoom CANDIDATE +en Anarthria HP:0002425 rdfs:label nl Anarthrie CANDIDATE +en Anasarca HP:0012050 rdfs:label nl Anasarca CANDIDATE +en Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced) HP:0011579 IAO:0000115 nl Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced) NOT_TRANSLATED +en Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging HP:0034182 IAO:0000115 nl Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging NOT_TRANSLATED +en Androgen insufficiency HP:0008226 rdfs:label nl Androgeen insufficiëntie CANDIDATE +en Anejaculation HP:0012879 rdfs:label nl Anejaculatie CANDIDATE +en Anemia HP:0001903 rdfs:label nl Anemie CANDIDATE +en Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells HP:0005511 IAO:0000115 nl Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells NOT_TRANSLATED +en Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts) HP:0001889 IAO:0000115 nl Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts) NOT_TRANSLATED +en Anemia due to reduced life span of red cells HP:0011895 rdfs:label nl Anemie als gevolg van verminderde levensduur van erytrocyten CANDIDATE +en Anemia of inadequate production HP:0010972 rdfs:label nl Anemie van inadequate productie CANDIDATE +en Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia HP:0001908 IAO:0000115 nl Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia NOT_TRANSLATED +en Anemic pallor HP:0001017 rdfs:label nl Anemische bleekheid CANDIDATE +en Anencephaly HP:0002323 rdfs:label nl Anencefalie CANDIDATE +en Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development HP:0002323 IAO:0000115 nl Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development NOT_TRANSLATED +en Anesthetic-induced rhabdomylosis HP:0011439 rdfs:label nl Door anesthetica geïnduceerde rhabdomyolyse CANDIDATE +en Anetoderma HP:0032026 rdfs:label nl Anetoderma NOT_TRANSLATED +en Aneurysmal bone cyst HP:0012063 rdfs:label nl Aneurysmale bot cyste CANDIDATE +en Angel-shaped phalanx HP:0032078 rdfs:label nl Angel-shaped phalanx NOT_TRANSLATED +en Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines HP:0002593 IAO:0000115 nl Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines NOT_TRANSLATED +en Angina pectoris HP:0001681 rdfs:label nl Angina pectoris (hartkramp) CANDIDATE +en Angioedema HP:0100665 rdfs:label nl Angio-oedeem CANDIDATE +en Angiofibroma consist of many often dilated vessels HP:0010615 IAO:0000115 nl Angiofibroma consist of many often dilated vessels NOT_TRANSLATED +en Angiofibromas HP:0010615 rdfs:label nl Angiofibromen CANDIDATE +en Angioid streaks of the fundus HP:0001102 rdfs:label nl Angioide strepen van de retina CANDIDATE +en Angiokeratoma HP:0001014 rdfs:label nl Angiokeratoom CANDIDATE +en Angiokeratoma circumscriptum naeviforme HP:0034410 rdfs:label nl Angiokeratoma circumscriptum naeviforme NOT_TRANSLATED +en Angiokeratoma corporis diffusum HP:0001071 rdfs:label nl Angiokeratoma corporis diffusum CANDIDATE +en Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation HP:0001071 IAO:0000115 nl Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation NOT_TRANSLATED +en Angiokeratoma of Mibelli HP:0034411 rdfs:label nl Angiokeratoma of Mibelli NOT_TRANSLATED +en Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot HP:0001014 IAO:0000115 nl Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot NOT_TRANSLATED +en Angioma serpentinum HP:0025108 rdfs:label nl Angioma serpentinum NOT_TRANSLATED +en Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis HP:0025108 IAO:0000115 nl Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis NOT_TRANSLATED +en Angiosarcoma HP:0200058 rdfs:label nl Angiosarcoom CANDIDATE +en Angle closure glaucoma HP:0012109 rdfs:label nl Angle closure glaucoma NOT_TRANSLATED +en Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective) HP:0000411 IAO:0000115 nl Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective) NOT_TRANSLATED +en Angular cheilitis HP:0030318 rdfs:label nl Hoekige cheilitis CANDIDATE +en Angulated antihelix HP:0011236 rdfs:label nl Angulated antihelix NOT_TRANSLATED +en Angulated forearm bones HP:0003954 rdfs:label nl Hoekige onderarm botten CANDIDATE +en Angulated humerus HP:0003863 rdfs:label nl Hoeige humerus CANDIDATE +en Angulated muscle fibers HP:0034045 rdfs:label nl Angulated muscle fibers NOT_TRANSLATED +en Anhedonia HP:0012154 rdfs:label nl Anhedonie CANDIDATE +en Anhidrosis HP:0000970 rdfs:label nl Anhidrose CANDIDATE +en Anhidrotic ectodermal dysplasia HP:0007476 rdfs:label nl Anhidrotische ectodermale dysplasie CANDIDATE +en Anhydramnios HP:0025700 rdfs:label nl Anhydramnios NOT_TRANSLATED +en Animal dander allergy HP:0410321 rdfs:label nl Animal dander allergy NOT_TRANSLATED +en Animal protein allergy HP:0410320 rdfs:label nl Animal protein allergy NOT_TRANSLATED +en Aniridia HP:0000526 rdfs:label nl Aniridie CANDIDATE +en Anisocoria HP:0009916 rdfs:label nl Anisocorie CANDIDATE +en Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease HP:0009916 IAO:0000115 nl Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease NOT_TRANSLATED +en Anisocytosis HP:0011273 rdfs:label nl Anisocytose CANDIDATE +en Anisometropia HP:0012803 rdfs:label nl Anisometropie CANDIDATE +en Anisopoikilocytosis HP:0004823 rdfs:label nl Anisopoikilocytose CANDIDATE +en Anisospondyly HP:0002879 rdfs:label nl Anisospondylie CANDIDATE +en Ankle clonus HP:0011448 rdfs:label nl Enkel clonus CANDIDATE +en Ankle contracture HP:0034677 rdfs:label nl Enkel contractuur OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Ankle flexion contracture HP:0006466 rdfs:label nl Enkel contractuur CANDIDATE +en Ankle joint effusion HP:0032063 rdfs:label nl Ankle joint effusion NOT_TRANSLATED +en Ankle pain HP:0030840 rdfs:label nl Enkel pijn CANDIDATE +en Ankle swelling HP:0001785 rdfs:label nl Enkelzwelling CANDIDATE +en Ankle weakness HP:0031374 rdfs:label nl Enkel zwakte CANDIDATE +en Ankyloblepharon HP:0009755 rdfs:label nl Ankyloblepharon CANDIDATE +en Ankyloglossia HP:0010296 rdfs:label nl Ankyloglossie CANDIDATE +en Ankylosis HP:0031013 rdfs:label nl Ankylose CANDIDATE +en Ankylosis of feet small joints HP:0008090 rdfs:label nl Ankylose van kleine gewrichten in voet CANDIDATE +en Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands HP:0009775 IAO:0000115 nl Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands NOT_TRANSLATED +en Annular cutaneous lesion HP:0025528 rdfs:label nl Annulaire cutane laesie CANDIDATE +en Annular pancreas HP:0001734 rdfs:label nl Ringvormige alvleesklier CANDIDATE +en Anodontia HP:0000674 rdfs:label nl Anodontie CANDIDATE +en Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina HP:0034269 IAO:0000115 nl Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina NOT_TRANSLATED +en Anomalous anatomical placement of the eyebrow HP:0040296 IAO:0000115 nl Anomalous anatomical placement of the eyebrow NOT_TRANSLATED +en Anomalous appearance or structure of the surface of the glomerular basement membrane HP:0033486 IAO:0000115 nl Anomalous appearance or structure of the surface of the glomerular basement membrane NOT_TRANSLATED +en Anomalous branches of internal carotid artery HP:0005314 rdfs:label nl Abnormale aftakkingen van arteria carotis interna CANDIDATE +en Anomalous coronary artery arising from the opposite sinus HP:0025503 rdfs:label nl Abnormale coronairearterie voortkomend uit tegenoverliggende sinus CANDIDATE +en Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA) HP:0031536 IAO:0000115 nl Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA) NOT_TRANSLATED +en Anomalous echogenicity of the kidney on ultrasound examination HP:0033130 IAO:0000115 nl Anomalous echogenicity of the kidney on ultrasound examination NOT_TRANSLATED +en Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers HP:0025035 IAO:0000115 nl Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers NOT_TRANSLATED +en Anomalous hepatic venous drainage into the left atrium HP:0032181 rdfs:label nl Anomalous hepatic venous drainage into the left atrium NOT_TRANSLATED +en Anomalous insertion of papillary muscle directly into anterior mitral leaflet HP:0025446 rdfs:label nl Anomalous insertion of papillary muscle directly into anterior mitral leaflet NOT_TRANSLATED +en Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect HP:0011562 IAO:0000115 nl Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect NOT_TRANSLATED +en Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta HP:0011418 IAO:0000115 nl Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta NOT_TRANSLATED +en Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle HP:0011564 IAO:0000115 nl Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle NOT_TRANSLATED +en Anomalous movements of the eyes that occur without the subject wanting them to happen HP:0012547 IAO:0000115 nl Anomalous movements of the eyes that occur without the subject wanting them to happen NOT_TRANSLATED +en Anomalous muscle bundle of the right ventricle HP:0030740 rdfs:label nl Anomaleuze spierbundel van het rechterventrikel CANDIDATE +en Anomalous oocyte meiosis HP:0033338 IAO:0000115 nl Anomalous oocyte meiosis NOT_TRANSLATED +en Anomalous origin of coronary artery from the pulmonary artery HP:0011637 rdfs:label nl Afwijkende oorsprong van coronairarterie van de arteria pulmonalis CANDIDATE +en Anomalous origin of left coronary artery from the pulmonary artery HP:0011638 rdfs:label nl Afwijkende oorsprong van linker coronairarterie van de arteria pulmonalis CANDIDATE +en Anomalous origin of left pulmonary artery from ascending aorta HP:0011661 rdfs:label nl Afwijkende oorsprong van linker arteria pulmonalis van aorta ascendens CANDIDATE +en Anomalous origin of left subclavian artery HP:0031253 rdfs:label nl Afwijkende oorsprong van linker arteria subclavia CANDIDATE +en Anomalous origin of one pulmonary artery from ascending aorta HP:0011660 rdfs:label nl Afwijkende oorsprong van één arteria pulmonalis van aorta ascendens CANDIDATE +en Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle HP:0011660 IAO:0000115 nl Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle NOT_TRANSLATED +en Anomalous origin of right coronary artery from the pulmonary artery HP:0011639 rdfs:label nl Afwijkende oorsprong van rechter coronairarterie van de arteria pulmonalis CANDIDATE +en Anomalous origin of right pulmonary artery from ascending aorta HP:0005143 rdfs:label nl Afwijkende oorsprong van rechter arteria pulmonalis van aorta ascendens CANDIDATE +en Anomalous origin of the circumflex artery from the right sinus of Valsalva HP:0025505 rdfs:label nl Anomalous origin of the circumflex artery from the right sinus of Valsalva NOT_TRANSLATED +en Anomalous origin of the left anterior descending artery from the pulmonary artery HP:0031638 rdfs:label nl Anomalous origin of the left anterior descending artery from the pulmonary artery NOT_TRANSLATED +en Anomalous origin of the left circumflex artery from the right coronary artery HP:0031537 rdfs:label nl Anomalous origin of the left circumflex artery from the right coronary artery NOT_TRANSLATED +en Anomalous origin of the left common carotid artery from the brachiocephalic artery HP:0031635 rdfs:label nl Afwijkende oorsprong van linker arteria carotis communis van de truncus brachiocephalicus CANDIDATE +en Anomalous origin of the left common carotid artery from the main pulmonary artery HP:0031634 rdfs:label nl Afwijkende oorsprong van linker arteria carotis communis van de arteria pulmonalis CANDIDATE +en Anomalous origin of the right common carotid artery from the aorta HP:0031636 rdfs:label nl Afwijkende oorsprong van rechter arteria carotis communis van de aorta CANDIDATE +en Anomalous origin of the right subclavian artery from the descending aorta HP:0031632 rdfs:label nl Afwijkende oorsprong van de rechter arteria subclavia van aorta descendens CANDIDATE +en Anomalous physical appearance (color, cloudiness, clarity) or odor of urine HP:0033072 IAO:0000115 nl Anomalous physical appearance (color, cloudiness, clarity) or odor of urine NOT_TRANSLATED +en Anomalous physiology (function) of the right ventricle HP:0033118 IAO:0000115 nl Anomalous physiology (function) of the right ventricle NOT_TRANSLATED +en Anomalous pulmonary venous return HP:0010772 rdfs:label nl Abnormale pulmonale veneuze return CANDIDATE +en Anomalous rib insertion to vertebrae HP:0006593 rdfs:label nl Abnormale rib insertie aan wervels CANDIDATE +en Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers HP:0011876 IAO:0000115 nl Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers NOT_TRANSLATED +en Anomalous splenoportal venous system HP:0005201 rdfs:label nl Abnormaal splenoportaal veneus systeem CANDIDATE +en Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases HP:0031337 IAO:0000115 nl Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases NOT_TRANSLATED +en Anomalous staining of dystrophin in cardiomyocytes HP:0031339 IAO:0000115 nl Anomalous staining of dystrophin in cardiomyocytes NOT_TRANSLATED +en Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes HP:0031338 IAO:0000115 nl Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes NOT_TRANSLATED +en Anomalous structure of a blood vessel in the kidney HP:0033835 IAO:0000115 nl Anomalous structure of a blood vessel in the kidney NOT_TRANSLATED +en Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla HP:0033837 IAO:0000115 nl Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla NOT_TRANSLATED +en Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, HP:0033859 IAO:0000115 nl Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule, NOT_TRANSLATED +en Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla HP:0033886 IAO:0000115 nl Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla NOT_TRANSLATED +en Anomalous structure of the peritubular capillaries located in the cortex of the kidney HP:0033860 IAO:0000115 nl Anomalous structure of the peritubular capillaries located in the cortex of the kidney NOT_TRANSLATED +en Anomalous structure of the peritubular capillaries located in the medulla of the kidney HP:0033864 IAO:0000115 nl Anomalous structure of the peritubular capillaries located in the medulla of the kidney NOT_TRANSLATED +en Anomalous tracheal cartilage HP:0004468 rdfs:label nl Abnormaal tracheaal kraakbeen CANDIDATE +en Anomalous trichromacy HP:0011519 rdfs:label nl Abnormale trichromasie CANDIDATE +en Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes HP:0011902 IAO:0000115 nl Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes NOT_TRANSLATED +en Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages HP:0045081 IAO:0000115 nl Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages NOT_TRANSLATED +en Anomaly of lower limb diaphyses HP:0012699 rdfs:label nl Anomalie van de diafysen van onderste ledematen CANDIDATE +en Anomaly of primary or secondary sexual development or characteristics HP:0012244 IAO:0000115 nl Anomaly of primary or secondary sexual development or characteristics NOT_TRANSLATED +en Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular HP:0006407 IAO:0000115 nl Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular NOT_TRANSLATED +en Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular HP:0006456 IAO:0000115 nl Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular NOT_TRANSLATED +en Anomaly of the folded ridges (wrinkles) of skin of the scrotum HP:0012856 IAO:0000115 nl Anomaly of the folded ridges (wrinkles) of skin of the scrotum NOT_TRANSLATED +en Anomaly of the physiological response to maintain the body's posture when movement and position is altered HP:0033329 IAO:0000115 nl Anomaly of the physiological response to maintain the body's posture when movement and position is altered NOT_TRANSLATED +en Anomaly of the upper limb diaphyses HP:0009808 rdfs:label nl Anomalie van de diafysen van de bovenste extremiteit CANDIDATE +en Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room HP:0007928 IAO:0000115 nl Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room NOT_TRANSLATED +en Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts HP:0031942 IAO:0000115 nl Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts NOT_TRANSLATED +en Anomic aphasia HP:0030784 rdfs:label nl Anomie CANDIDATE +en Anonychia HP:0001798 rdfs:label nl Anonychia CANDIDATE +en Anoperineal fistula HP:0005218 rdfs:label nl Anoperineale fistel CANDIDATE +en Anophthalmia HP:0000528 rdfs:label nl Anolftamie CANDIDATE +en Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm HP:0033129 IAO:0000115 nl Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm NOT_TRANSLATED +en Anorchism HP:0030869 rdfs:label nl Anorchisme CANDIDATE +en Anorectal abscess HP:0033150 rdfs:label nl Anorectal abscess NOT_TRANSLATED +en Anorectal anomaly HP:0012732 rdfs:label nl Anorectale afwijking CANDIDATE +en Anorectal stricture HP:0033254 rdfs:label nl Anorectal stricture NOT_TRANSLATED +en Anorexia HP:0002039 rdfs:label nl Anorexia CANDIDATE +en Anorgasmia HP:0046502 rdfs:label nl Anorgasmia NOT_TRANSLATED +en Anosmia HP:0000458 rdfs:label nl Anosmie CANDIDATE +en Anosmia for one particular odor HP:0012247 IAO:0000115 nl Anosmia for one particular odor NOT_TRANSLATED +en Anotia HP:0009892 rdfs:label nl Anotie CANDIDATE +en Antalgic gait HP:0031955 rdfs:label nl Antalgic gait NOT_TRANSLATED +en Antecubital pterygium HP:0009760 rdfs:label nl Antecubitaal pterygium CANDIDATE +en Antegonial notching of mandible HP:0003779 rdfs:label nl Antegonial notching of mandible NOT_TRANSLATED +en Antenatal intracerebral hemorrhage HP:0007023 rdfs:label nl Antenatale intracerebrale bloeding CANDIDATE +en Antenatal onset HP:0030674 rdfs:label nl Antenatale onset CANDIDATE +en Antepartum hemorrhage HP:0025328 rdfs:label nl Antepartum bloeding CANDIDATE +en Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha HP:0000394 IAO:0000115 nl Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha NOT_TRANSLATED +en Anterior atlanto-occipital dislocation HP:0005678 rdfs:label nl Anterieure atlanto-occipitale dislocatie CANDIDATE +en Anterior basal encephalocele HP:0006992 rdfs:label nl Anterieure basale encefalocele CANDIDATE +en Anterior beaking of lower thoracic vertebrae HP:0004607 rdfs:label nl Anterieure beknelling van lagere thoracale wervels CANDIDATE +en Anterior beaking of lumbar vertebrae HP:0008430 rdfs:label nl Anterieure beknelling van lumbale wervels CANDIDATE +en Anterior beaking of thoracic vertebrae HP:0004630 rdfs:label nl Anterieure beknelling van thoracale wervels CANDIDATE +en Anterior blepharitis HP:0025609 rdfs:label nl Anterieure blefaritis CANDIDATE +en Anterior bowing of long bones HP:0006473 rdfs:label nl Anterieure bowing van lange beenderen CANDIDATE +en Anterior cerebral artery stenosis HP:0012494 rdfs:label nl Arteria cerebri anterior stenose CANDIDATE +en Anterior cervical hypertrichosis HP:0004535 rdfs:label nl Anterieure cervicale hypertrichose CANDIDATE +en Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence HP:0004535 IAO:0000115 nl Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence NOT_TRANSLATED +en Anterior chamber cells HP:0025560 rdfs:label nl Voorste oogkamer cellen CANDIDATE +en Anterior chamber cells grade 0 HP:0025563 rdfs:label nl Voorste oogkamer cellen graad 0 CANDIDATE +en Anterior chamber cells grade 0.5+ HP:0025562 rdfs:label nl Voorste oogkamer cellen graad 0.5+ CANDIDATE +en Anterior chamber cells grade 1+ HP:0025561 rdfs:label nl Voorste oogkamer cellen graad 1+ CANDIDATE +en Anterior chamber cells grade 2+ HP:0025564 rdfs:label nl Voorste oogkamer cellen graad 2+ CANDIDATE +en Anterior chamber cells grade 3+ HP:0025565 rdfs:label nl Voorste oogkamer cellen graad 3+ CANDIDATE +en Anterior chamber cells grade 4+ HP:0025566 rdfs:label nl Voorste oogkamer cellen graad 4+ CANDIDATE +en Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp HP:0025562 IAO:0000115 nl Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED +en Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp HP:0025564 IAO:0000115 nl Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED +en Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp HP:0025565 IAO:0000115 nl Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED +en Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp HP:0025561 IAO:0000115 nl Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED +en Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp HP:0025563 IAO:0000115 nl Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED +en Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp HP:0025566 IAO:0000115 nl Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED +en Anterior chamber cyst HP:0025311 rdfs:label nl Voorste oogkamer cyste CANDIDATE +en Anterior chamber flare HP:0031616 rdfs:label nl Flare in voorste oogkamer CANDIDATE +en Anterior chamber flare grade 1+ HP:0031618 rdfs:label nl Flare in voorste oogkamer graad 1+ CANDIDATE +en Anterior chamber flare grade 2+ HP:0031619 rdfs:label nl Flare in voorste oogkamer graad 2+ CANDIDATE +en Anterior chamber flare grade 3+ HP:0031620 rdfs:label nl Flare in voorste oogkamer graad 3+ CANDIDATE +en Anterior chamber flare grade 4+ HP:0031621 rdfs:label nl Flare in voorste oogkamer graad 4+ CANDIDATE +en Anterior chamber inflammatory cells HP:0031701 rdfs:label nl Ontstekingscellen in voorste oogkamer CANDIDATE +en Anterior chamber red blood cells HP:0031702 rdfs:label nl Rode bloedcellen in voorste oogkamer CANDIDATE +en Anterior chamber synechiae HP:0007833 rdfs:label nl Voorste oogkamer synechiae CANDIDATE +en Anterior clefting of vertebral bodies HP:0009761 rdfs:label nl Anterieur gespleten wervellichamen CANDIDATE +en Anterior concavity of thoracic vertebrae HP:0004611 rdfs:label nl Anterieure holte van thoracale wervels CANDIDATE +en Anterior cortical cataract HP:0007795 rdfs:label nl Anterieur corticaal cataract CANDIDATE +en Anterior creases of earlobe HP:0009908 rdfs:label nl Anterieure plooien van oorlel CANDIDATE +en Anterior displacement of the papillary muscles HP:0025448 rdfs:label nl Anterieure verplaatsing van de papillairspieren CANDIDATE +en Anterior encephalocele HP:0007035 rdfs:label nl Anterieure encefalocele CANDIDATE +en Anterior hypopituitarism HP:0000830 rdfs:label nl Anterior hypopituïtarisme CANDIDATE +en Anterior lenticonus HP:0011501 rdfs:label nl Anterieure lenticonus CANDIDATE +en Anterior malposition of the anus HP:0001545 IAO:0000115 nl Anterior malposition of the anus NOT_TRANSLATED +en Anterior mediastinal mass HP:0033827 rdfs:label nl Anterior mediastinal mass NOT_TRANSLATED +en Anterior mislocalization of the dens of the axis HP:0004608 IAO:0000115 nl Anterior mislocalization of the dens of the axis NOT_TRANSLATED +en Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion HP:0009102 IAO:0000115 nl Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion NOT_TRANSLATED +en Anterior open-bite malocclusion HP:0009102 rdfs:label nl Anterieure open beet malocclusie CANDIDATE +en Anterior pituitary agenesis HP:0010626 rdfs:label nl Anterieure hypofyse agenesie CANDIDATE +en Anterior pituitary dysgenesis HP:0010625 rdfs:label nl Anterieure hypofyse dysgenesie CANDIDATE +en Anterior pituitary hypoplasia HP:0010627 rdfs:label nl Anterieure hypofyse hypoplasie CANDIDATE +en Anterior plagiocephaly HP:0011326 rdfs:label nl Anterieure plagiocefalie CANDIDATE +en Anterior polar cataract HP:0001134 rdfs:label nl Anterieur polair cataract CANDIDATE +en Anterior positioning of the nasal root in comparison to the usual positioning for age HP:0000426 IAO:0000115 nl Anterior positioning of the nasal root in comparison to the usual positioning for age NOT_TRANSLATED +en Anterior predominant pachygyria with 5-10 mm cortical thickness HP:0020188 rdfs:label nl Anterior predominant pachygyria with 5-10 mm cortical thickness NOT_TRANSLATED +en Anterior predominant subcortical band heterotopia HP:0032412 rdfs:label nl Anterior predominant subcortical band heterotopia NOT_TRANSLATED +en Anterior predominant thick cortex pachygyria HP:0020191 rdfs:label nl Anterior predominant thick cortex pachygyria NOT_TRANSLATED +en Anterior pyramidal cataract HP:0010697 rdfs:label nl Anterior pyramidal cataract NOT_TRANSLATED +en Anterior radial head dislocation HP:0005084 rdfs:label nl Anterieure radiuskop dislocatie CANDIDATE +en Anterior rib cupping HP:0000907 rdfs:label nl Voorste rib cupping CANDIDATE +en Anterior rib punctate calcifications HP:0006619 rdfs:label nl Anterior rib punctate calcifications NOT_TRANSLATED +en Anterior rounding of vertebral bodies HP:0008488 rdfs:label nl Anterieure afronding van wervellichamen CANDIDATE +en Anterior sacral meningocele HP:0007293 rdfs:label nl Anterieure sacrale meningocele CANDIDATE +en Anterior scalloping of vertebral bodies HP:0004580 rdfs:label nl Anterieure uitstulping van wervellichamen CANDIDATE +en Anterior schisis (cleft or cleavage) of vertebral bodies HP:0009761 IAO:0000115 nl Anterior schisis (cleft or cleavage) of vertebral bodies NOT_TRANSLATED +en Anterior segment of eye aplasia HP:0007779 rdfs:label nl Anterieur segment van oog aplasie CANDIDATE +en Anterior staphyloma HP:0030855 rdfs:label nl Anterieur stafyloom CANDIDATE +en Anterior subcapsular cataract HP:0010923 rdfs:label nl Anterieur subcapsulair cataract CANDIDATE +en Anterior synechiae of the anterior chamber HP:0011483 rdfs:label nl Anterior synechiae of the anterior chamber NOT_TRANSLATED +en Anterior tibial bowing HP:0006390 rdfs:label nl Buiging van anterieure tibia CANDIDATE +en Anterior tongue-like protrusions of the lower thoracic vertebral bodies HP:0004607 IAO:0000115 nl Anterior tongue-like protrusions of the lower thoracic vertebral bodies NOT_TRANSLATED +en Anterior tongue-like protrusions of the vertebral bodies HP:0004568 IAO:0000115 nl Anterior tongue-like protrusions of the vertebral bodies NOT_TRANSLATED +en Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine HP:0008430 IAO:0000115 nl Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine NOT_TRANSLATED +en Anterior tongue-like protrusions of thoracic vertebral bodies HP:0004630 IAO:0000115 nl Anterior tongue-like protrusions of thoracic vertebral bodies NOT_TRANSLATED +en Anterior uveitis HP:0012122 rdfs:label nl Anterieure uveïtis CANDIDATE +en Anterior vaginal wall prolapse with bulging of the bladder into the vagina HP:0100645 IAO:0000115 nl Anterior vaginal wall prolapse with bulging of the bladder into the vagina NOT_TRANSLATED +en Anterior vertebral fusion HP:0004557 rdfs:label nl Anterieure wervelfusie CANDIDATE +en Anterior wedging of L1 HP:0008432 rdfs:label nl Anterior wedging of L1 NOT_TRANSLATED +en Anterior wedging of L2 HP:0011941 rdfs:label nl Anterior wedging of L2 NOT_TRANSLATED +en Anterior wedging of T11 HP:0004573 rdfs:label nl Anterior wedging of T11 NOT_TRANSLATED +en Anterior wedging of T12 HP:0011940 rdfs:label nl Anterior wedging of T12 NOT_TRANSLATED +en Anteriorly displaced genitalia HP:0003252 rdfs:label nl Anterieure misplaatste genitaliën CANDIDATE +en Anteriorly displaced urethral meatus HP:0008648 rdfs:label nl Anterieur misplaatste urethrale meatus CANDIDATE +en Anteriorly placed anus HP:0001545 rdfs:label nl Anterieur geplaatste anus CANDIDATE +en Anteriorly placed odontoid process HP:0004608 rdfs:label nl Anterieur geplaatst processus odontoideus CANDIDATE +en Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip) HP:0000463 IAO:0000115 nl Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip) NOT_TRANSLATED +en Anterograde memory impairment HP:0033689 rdfs:label nl Anterograde memory impairment NOT_TRANSLATED +en Anterolateral radial head dislocation HP:0005050 rdfs:label nl Antero-laterale radiuskop dislocatie CANDIDATE +en Anteroposteriorly shortened larynx HP:0005956 rdfs:label nl Anteroposterieur verkorte larynx CANDIDATE +en Anteverted ears HP:0040080 rdfs:label nl Anteverted ears NOT_TRANSLATED +en Anteverted nares HP:0000463 rdfs:label nl Opengewerkte neusgaten CANDIDATE +en Anthracosis HP:0033375 rdfs:label nl Anthracosis NOT_TRANSLATED +en Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers HP:0033375 IAO:0000115 nl Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers NOT_TRANSLATED +en Anti-21-hydroxylase antibody positivity HP:0034071 rdfs:label nl Anti-21-hydroxylase antibody positivity NOT_TRANSLATED +en Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity HP:0033708 rdfs:label nl Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity NOT_TRANSLATED +en Anti-AK5 antibody positivity HP:5000000 rdfs:label nl Anti-AK5 antibody positivity NOT_TRANSLATED +en Anti-AMPAR antibody positivity HP:5000001 rdfs:label nl Anti-AMPAR antibody positivity NOT_TRANSLATED +en Anti-ARHGAP26 antibody HP:5000003 rdfs:label nl Anti-ARHGAP26 antibody NOT_TRANSLATED +en Anti-Amphiphysin antibody HP:5000002 rdfs:label nl Anti-Amphiphysin antibody NOT_TRANSLATED +en Anti-B23 antibody positivity HP:0034089 rdfs:label nl Anti-B23 antibody positivity NOT_TRANSLATED +en Anti-BP180 antibody positivity HP:4000020 rdfs:label nl Anti-BP180 antibody positivity NOT_TRANSLATED +en Anti-BP230 antibody positivity HP:4000019 rdfs:label nl Anti-BP230 antibody positivity NOT_TRANSLATED +en Anti-CARP VIII antibody HP:5000004 rdfs:label nl Anti-CARP VIII antibody NOT_TRANSLATED +en Anti-CASPR2 HP:5000005 rdfs:label nl Anti-CASPR2 NOT_TRANSLATED +en Anti-CV2/CRMP5 antibody positivity HP:5000006 rdfs:label nl Anti-CV2/CRMP5 antibody positivity NOT_TRANSLATED +en Anti-Complement factor H antibody positivity HP:0034001 rdfs:label nl Anti-Complement factor H antibody positivity NOT_TRANSLATED +en Anti-D2 R antibody HP:5000043 rdfs:label nl Anti-D2 R antibody NOT_TRANSLATED +en Anti-DPPX antibody HP:5000007 rdfs:label nl Anti-DPPX antibody NOT_TRANSLATED +en Anti-FGFR3 antibody positivity HP:5000008 rdfs:label nl Anti-FGFR3 antibody positivity NOT_TRANSLATED +en Anti-GABA(A)R antibody HP:5000009 rdfs:label nl Anti-GABA(A)R antibody NOT_TRANSLATED +en Anti-GABA(B)R antibody HP:5000010 rdfs:label nl Anti-GABA(B)R antibody NOT_TRANSLATED +en Anti-GAD65 antibody HP:5000011 rdfs:label nl Anti-GAD65 antibody NOT_TRANSLATED +en Anti-GD1a IgG antibody positivity HP:0034119 rdfs:label nl Anti-GD1a IgG antibody positivity NOT_TRANSLATED +en Anti-GD1a IgM antibody positivity HP:0034120 rdfs:label nl Anti-GD1a IgM antibody positivity NOT_TRANSLATED +en Anti-GD1a antibody positivity HP:0034121 rdfs:label nl Anti-GD1a antibody positivity NOT_TRANSLATED +en Anti-GD1b IgG antibody positivity HP:0034126 rdfs:label nl Anti-GD1b IgG antibody positivity NOT_TRANSLATED +en Anti-GD1b IgM antibody positivity HP:0034125 rdfs:label nl Anti-GD1b IgM antibody positivity NOT_TRANSLATED +en Anti-GD1b antibody positivity HP:0034124 rdfs:label nl Anti-GD1b antibody positivity NOT_TRANSLATED +en Anti-GFAP antibody HP:5000013 rdfs:label nl Anti-GFAP antibody NOT_TRANSLATED +en Anti-GM1 IgG antibody positivity HP:0034112 rdfs:label nl Anti-GM1 IgG antibody positivity NOT_TRANSLATED +en Anti-GM1 IgM antibody positivity HP:0034118 rdfs:label nl Anti-GM1 IgM antibody positivity NOT_TRANSLATED +en Anti-GM1 antibody positivity HP:0034103 rdfs:label nl Anti-GM1 antibody positivity NOT_TRANSLATED +en Anti-GM2 antibody positivity HP:0034132 rdfs:label nl Anti-GM2 antibody positivity NOT_TRANSLATED +en Anti-GM3 antibody positivity HP:0034133 rdfs:label nl Anti-GM3 antibody positivity NOT_TRANSLATED +en Anti-GM4 antibody positivity HP:0034134 rdfs:label nl Anti-GM4 antibody positivity NOT_TRANSLATED +en Anti-GQ1b IgG antibody positivity HP:0034127 rdfs:label nl Anti-GQ1b IgG antibody positivity NOT_TRANSLATED +en Anti-GQ1b IgM antibody positivity HP:0034123 rdfs:label nl Anti-GQ1b IgM antibody positivity NOT_TRANSLATED +en Anti-GQ1b antibody positivity HP:0034122 rdfs:label nl Anti-GQ1b antibody positivity NOT_TRANSLATED +en Anti-GT1a IgG antibody positivity HP:0034130 rdfs:label nl Anti-GT1a IgG antibody positivity NOT_TRANSLATED +en Anti-GT1a IgM antibody positivity HP:0034129 rdfs:label nl Anti-GT1a IgM antibody positivity NOT_TRANSLATED +en Anti-GT1a antibody positivity HP:0034128 rdfs:label nl Anti-GT1a antibody positivity NOT_TRANSLATED +en Anti-GT1b antibody positivity HP:0034131 rdfs:label nl Anti-GT1b antibody positivity NOT_TRANSLATED +en Anti-GW182 antibody positivity HP:0034109 rdfs:label nl Anti-GW182 antibody positivity NOT_TRANSLATED +en Anti-Gephyrin antibody HP:5000012 rdfs:label nl Anti-Gephyrin antibody NOT_TRANSLATED +en Anti-Gerbich phenotype 1 antibody positivity HP:0034110 rdfs:label nl Anti-Gerbich phenotype 1 antibody positivity NOT_TRANSLATED +en Anti-GluK2 antibody HP:5000044 rdfs:label nl Anti-GluK2 antibody NOT_TRANSLATED +en Anti-GlyR antibody HP:5000014 rdfs:label nl Anti-GlyR antibody NOT_TRANSLATED +en Anti-H1 antibody positivity HP:0033572 rdfs:label nl Anti-H1 antibody positivity NOT_TRANSLATED +en Anti-H2A antibody positivity HP:0033575 rdfs:label nl Anti-H2A antibody positivity NOT_TRANSLATED +en Anti-H2A-H2B antibody positivity HP:0033593 rdfs:label nl Anti-H2A-H2B antibody positivity NOT_TRANSLATED +en Anti-H2B antibody positivity HP:0033576 rdfs:label nl Anti-H2B antibody positivity NOT_TRANSLATED +en Anti-H3 antibody positivity HP:0033574 rdfs:label nl Anti-H3 antibody positivity NOT_TRANSLATED +en Anti-H3-H4 antibody positivity HP:0033592 rdfs:label nl Anti-H3-H4 antibody positivity NOT_TRANSLATED +en Anti-H4 antibody positivity HP:0033573 rdfs:label nl Anti-H4 antibody positivity NOT_TRANSLATED +en Anti-HLA antibody positivity HP:0034016 rdfs:label nl Anti-HLA antibody positivity NOT_TRANSLATED +en Anti-HLA-A IgG1 antibody positivity HP:0034020 rdfs:label nl Anti-HLA-A IgG1 antibody positivity NOT_TRANSLATED +en Anti-HLA-A IgG3 antibody positivity HP:0034021 rdfs:label nl Anti-HLA-A IgG3 antibody positivity NOT_TRANSLATED +en Anti-HLA-A antibody positivity HP:0034019 rdfs:label nl Anti-HLA-A antibody positivity NOT_TRANSLATED +en Anti-HLA-B IgG1 antibody positivity HP:0034023 rdfs:label nl Anti-HLA-B IgG1 antibody positivity NOT_TRANSLATED +en Anti-HLA-B IgG3 antibody positivity HP:0034024 rdfs:label nl Anti-HLA-B IgG3 antibody positivity NOT_TRANSLATED +en Anti-HLA-B antibody positivity HP:0034022 rdfs:label nl Anti-HLA-B antibody positivity NOT_TRANSLATED +en Anti-Homer-3 antibody HP:5000015 rdfs:label nl Anti-Homer-3 antibody NOT_TRANSLATED +en Anti-Hu antibody positivity HP:5000016 rdfs:label nl Anti-Hu antibody positivity NOT_TRANSLATED +en Anti-ITPR1 antibody HP:5000018 rdfs:label nl Anti-ITPR1 antibody NOT_TRANSLATED +en Anti-Iglon5 antibody HP:5000017 rdfs:label nl Anti-Iglon5 antibody NOT_TRANSLATED +en Anti-Kelch like protein 11 antibody positivity HP:5000019 rdfs:label nl Anti-Kelch like protein 11 antibody positivity NOT_TRANSLATED +en Anti-Kelch like protein 12 antibody positivity HP:0034115 rdfs:label nl Anti-Kelch like protein 12 antibody positivity NOT_TRANSLATED +en Anti-Ki antibody positivity HP:0034154 rdfs:label nl Anti-Ki antibody positivity NOT_TRANSLATED +en Anti-Ku antibody positivity HP:0034088 rdfs:label nl Anti-Ku antibody positivity NOT_TRANSLATED +en Anti-Kv1.4 antibody HP:5000048 rdfs:label nl Anti-Kv1.4 antibody NOT_TRANSLATED +en Anti-LABD97 antibody positivity HP:4000028 rdfs:label nl Anti-LABD97 antibody positivity NOT_TRANSLATED +en Anti-LGI1 antibody HP:5000020 rdfs:label nl Anti-LGI1 antibody NOT_TRANSLATED +en Anti-La/SS-B antibody positivity HP:0032235 rdfs:label nl Anti-La/SS-B antibody positivity NOT_TRANSLATED +en Anti-Lrp4 antibody positivity HP:5000046 rdfs:label nl Anti-Lrp4 antibody positivity NOT_TRANSLATED +en Anti-MAP1B antibody HP:5000028 rdfs:label nl Anti-MAP1B antibody NOT_TRANSLATED +en Anti-MDA5 antibody positivity HP:0033033 rdfs:label nl Anti-MDA5 antibody positivity NOT_TRANSLATED +en Anti-MIT3 antibody positivity HP:0034111 rdfs:label nl Anti-MIT3 antibody positivity NOT_TRANSLATED +en Anti-Ma antibody positivity HP:5000021 rdfs:label nl Anti-Ma antibody positivity NOT_TRANSLATED +en Anti-Ma1 antibody positivity HP:5000023 rdfs:label nl Anti-Ma1 antibody positivity NOT_TRANSLATED +en Anti-Ma2 antibody positivity HP:5000022 rdfs:label nl Anti-Ma2 antibody positivity NOT_TRANSLATED +en Anti-Mi2 antibody positivity HP:0033554 rdfs:label nl Anti-Mi2 antibody positivity NOT_TRANSLATED +en Anti-NMDA receptor antibody positivity HP:0032264 rdfs:label nl Anti-NMDA receptor antibody positivity NOT_TRANSLATED +en Anti-P/Q-type VGCC antibody positivity HP:5000027 rdfs:label nl Anti-P/Q-type VGCC antibody positivity NOT_TRANSLATED +en Anti-PKCgamma antibody HP:5000029 rdfs:label nl Anti-PKCgamma antibody NOT_TRANSLATED +en Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40 HP:0033560 IAO:0000115 nl Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40 NOT_TRANSLATED +en Anti-PM-Scl antibody positivity HP:0033560 rdfs:label nl Anti-PM-Scl antibody positivity NOT_TRANSLATED +en Anti-PM-Scl100 antibody positivity HP:0034085 rdfs:label nl Anti-PM-Scl100 antibody positivity NOT_TRANSLATED +en Anti-PM-Scl75 antibody positivity HP:0034086 rdfs:label nl Anti-PM-Scl75 antibody positivity NOT_TRANSLATED +en Anti-RNA-polymerase-III-autoantibody positivity HP:0033038 rdfs:label nl Anti-RNA-polymerase-III-autoantibody positivity NOT_TRANSLATED +en Anti-Ri antibody HP:5000030 rdfs:label nl Anti-Ri antibody NOT_TRANSLATED +en Anti-Ro/SS-A antibody positivity HP:0033555 rdfs:label nl Anti-Ro/SS-A antibody positivity NOT_TRANSLATED +en Anti-Ro52/TRIM21 antibody positivity HP:0034093 rdfs:label nl Anti-Ro52/TRIM21 antibody positivity NOT_TRANSLATED +en Anti-RuvBL1/2 antibody positivity HP:0034090 rdfs:label nl Anti-RuvBL1/2 antibody positivity NOT_TRANSLATED +en Anti-SEZ6L2 antibody HP:5000032 rdfs:label nl Anti-SEZ6L2 antibody NOT_TRANSLATED +en Anti-SOX1 antibody HP:5000033 rdfs:label nl Anti-SOX1 antibody NOT_TRANSLATED +en Anti-SUMO-activating enzyme antibody positivity HP:0034139 rdfs:label nl Anti-SUMO-activating enzyme antibody positivity NOT_TRANSLATED +en Anti-SUMO-activating enzyme subunit 1 antibody positivity HP:0034140 rdfs:label nl Anti-SUMO-activating enzyme subunit 1 antibody positivity NOT_TRANSLATED +en Anti-SUMO-activating enzyme subunit 2 antibody positivity HP:0034141 rdfs:label nl Anti-SUMO-activating enzyme subunit 2 antibody positivity NOT_TRANSLATED +en Anti-Septin-5 antibody HP:5000031 rdfs:label nl Anti-Septin-5 antibody NOT_TRANSLATED +en Anti-Sj/ITPR1 antibody HP:5000042 rdfs:label nl Anti-Sj/ITPR1 antibody NOT_TRANSLATED +en Anti-Sm antibody positivity HP:0033040 rdfs:label nl Anti-Sm antibody positivity NOT_TRANSLATED +en Anti-Su antigen/argonaute 2 antibody positivity HP:0034106 rdfs:label nl Anti-Su antigen/argonaute 2 antibody positivity NOT_TRANSLATED +en Anti-TRIM46 antibody HP:5000035 rdfs:label nl Anti-TRIM46 antibody NOT_TRANSLATED +en Anti-TRIM9/TRIM67 antibody HP:5000036 rdfs:label nl Anti-TRIM9/TRIM67 antibody NOT_TRANSLATED +en Anti-Th/To antibody positivity HP:0034081 rdfs:label nl Anti-Th/To antibody positivity NOT_TRANSLATED +en Anti-Tr/DNER antibody HP:5000034 rdfs:label nl Anti-Tr/DNER antibody NOT_TRANSLATED +en Anti-U1 ribonucleoprotein antibody positivity HP:0033028 rdfs:label nl Anti-U1 ribonucleoprotein antibody positivity NOT_TRANSLATED +en Anti-U11/U12 RNP antibody positivity HP:0034087 rdfs:label nl Anti-U11/U12 RNP antibody positivity NOT_TRANSLATED +en Anti-U3 RNP antibody positivity HP:0034080 rdfs:label nl Anti-U3 RNP antibody positivity NOT_TRANSLATED +en Anti-Y-box protein-1 antibody positivity HP:0034108 rdfs:label nl Anti-Y-box protein-1 antibody positivity NOT_TRANSLATED +en Anti-Yo antibody positivity HP:5000037 rdfs:label nl Anti-Yo antibody positivity NOT_TRANSLATED +en Anti-Zic4 antibody positivity HP:5000039 rdfs:label nl Anti-Zic4 antibody positivity NOT_TRANSLATED +en Anti-Zinc transporter 8 antibody positivity HP:0034065 rdfs:label nl Anti-Zinc transporter 8 antibody positivity NOT_TRANSLATED +en Anti-acetylcholine receptor antibody positivity HP:0030208 rdfs:label nl Anti-acetylcholine receptor antibody positivity NOT_TRANSLATED +en Anti-alanyl-tRNA synthetase antibody positivity HP:0034145 rdfs:label nl Anti-alanyl-tRNA synthetase antibody positivity NOT_TRANSLATED +en Anti-aminoacyl-tRNA synthetase antibody positivity HP:0034147 rdfs:label nl Anti-aminoacyl-tRNA synthetase antibody positivity NOT_TRANSLATED +en Anti-angiotensin receptor type-1 antibody positivity HP:0034094 rdfs:label nl Anti-angiotensin receptor type-1 antibody positivity NOT_TRANSLATED +en Anti-angiotensin-converting enzyme 2 antibody positivity HP:0034117 rdfs:label nl Anti-angiotensin-converting enzyme 2 antibody positivity NOT_TRANSLATED +en Anti-annexin-V antibody positivity HP:0034101 rdfs:label nl Anti-annexin-V antibody positivity NOT_TRANSLATED +en Anti-aquaporin 4 antibody positivity HP:0033342 rdfs:label nl Anti-aquaporin 4 antibody positivity NOT_TRANSLATED +en Anti-asialoglycoprotein receptor antibody positivity HP:0032469 rdfs:label nl Anti-asialoglycoprotein receptor antibody positivity NOT_TRANSLATED +en Anti-asparaginyl-tRNA synthetase antibody positivity HP:0034151 rdfs:label nl Anti-asparaginyl-tRNA synthetase antibody positivity NOT_TRANSLATED +en Anti-bactericidal/permeability-increasing protein antibody positivity HP:0033561 rdfs:label nl Anti-bactericidal/permeability-increasing protein antibody positivity NOT_TRANSLATED +en Anti-beta 2 glycoprotein I antibody positivity HP:0032376 rdfs:label nl Anti-beta 2 glycoprotein I antibody positivity NOT_TRANSLATED +en Anti-beta-2-Glycoprotein I IgG antibody positivity HP:0034156 rdfs:label nl Anti-beta-2-Glycoprotein I IgG antibody positivity NOT_TRANSLATED +en Anti-beta-2-Glycoprotein I IgM antibody positivity HP:0034157 rdfs:label nl Anti-beta-2-Glycoprotein I IgM antibody positivity NOT_TRANSLATED +en Anti-bicaudal D2 antibody positivity HP:0034082 rdfs:label nl Anti-bicaudal D2 antibody positivity NOT_TRANSLATED +en Anti-carbonic anhydrase II antibody positivity HP:0033394 rdfs:label nl Anti-carbonic anhydrase II antibody positivity NOT_TRANSLATED +en Anti-carbonic anhydrase VI antibody positivity HP:0034066 rdfs:label nl Anti-carbonic anhydrase VI antibody positivity NOT_TRANSLATED +en Anti-centromere antibody positivity HP:0030873 rdfs:label nl Anti-centromeer antistoffen positiviteit CANDIDATE +en Anti-centromere protein A antibody positivity HP:0034078 rdfs:label nl Anti-centromere protein A antibody positivity NOT_TRANSLATED +en Anti-centromere protein B antibody positivity HP:0034079 rdfs:label nl Anti-centromere protein B antibody positivity NOT_TRANSLATED +en Anti-citrullinated protein antibody positivity HP:0033034 rdfs:label nl Anti-citrullinated protein antibody positivity NOT_TRANSLATED +en Anti-class I HLA antibody positivity HP:0034017 rdfs:label nl Anti-class I HLA antibody positivity NOT_TRANSLATED +en Anti-class II HLA antibody positivity HP:0034018 rdfs:label nl Anti-class II HLA antibody positivity NOT_TRANSLATED +en Anti-complement component C1q antibody positivity HP:0034077 rdfs:label nl Anti-complement component C1q antibody positivity NOT_TRANSLATED +en Anti-contactin-1 antibody positivity HP:0034137 rdfs:label nl Anti-contactin-1 antibody positivity NOT_TRANSLATED +en Anti-contactin-associated protein 1 antibody positivity HP:0034138 rdfs:label nl Anti-contactin-associated protein 1 antibody positivity NOT_TRANSLATED +en Anti-cyclic citrullinated peptide antibody positivity HP:0034092 rdfs:label nl Anti-cyclic citrullinated peptide antibody positivity NOT_TRANSLATED +en Anti-cytosolic-5-nucleotidase-1A antibody positivity HP:0034153 rdfs:label nl Anti-cytosolic-5-nucleotidase-1A antibody positivity NOT_TRANSLATED +en Anti-desmoglein-1 antibody positivity HP:4000013 rdfs:label nl Anti-desmoglein-1 antibody positivity NOT_TRANSLATED +en Anti-desmoglein-3 antibody positivity HP:4000014 rdfs:label nl Anti-desmoglein-3 antibody positivity NOT_TRANSLATED +en Anti-desmoplakin I antibody positivity HP:4000017 rdfs:label nl Anti-desmoplakin I antibody positivity NOT_TRANSLATED +en Anti-desmoplakin II antibody positivity HP:4000018 rdfs:label nl Anti-desmoplakin II antibody positivity NOT_TRANSLATED +en Anti-dsDNA antibody positivity HP:0020151 rdfs:label nl Anti-dsDNA antibody positivity NOT_TRANSLATED +en Anti-endomysial antibody positivity HP:0033637 rdfs:label nl Anti-endomysial antibody positivity NOT_TRANSLATED +en Anti-endothelin-1 type A receptor antibody positivity HP:0034095 rdfs:label nl Anti-endothelin-1 type A receptor antibody positivity NOT_TRANSLATED +en Anti-enterocyte antibody positivity HP:0034070 rdfs:label nl Anti-enterocyte antibody positivity NOT_TRANSLATED +en Anti-envoplakin antibody positivity HP:4000015 rdfs:label nl Anti-envoplakin antibody positivity NOT_TRANSLATED +en Anti-epidermal transglutaminase antibody positivity HP:0033565 rdfs:label nl Anti-epidermal transglutaminase antibody positivity NOT_TRANSLATED +en Anti-ganglioside antibody positivity HP:0031810 rdfs:label nl Anti-ganglioside antibody positivity NOT_TRANSLATED +en Anti-glomerular basement membrane-antibody positivity HP:0033030 rdfs:label nl Anti-glomerular basement membrane-antibody positivity NOT_TRANSLATED +en Anti-glutamic acid decarboxylase antibody positivity HP:0025329 rdfs:label nl Anti-glutaminezuur decarboxylase antistoffen positiviteit CANDIDATE +en Anti-glycoprotein-210 antibody positivity HP:0033562 rdfs:label nl Anti-glycoprotein-210 antibody positivity NOT_TRANSLATED +en Anti-glycyl tRNA-synthetase antibody positivity HP:0034146 rdfs:label nl Anti-glycyl tRNA-synthetase antibody positivity NOT_TRANSLATED +en Anti-granulocyte-macrophage colony stimulating factor antibody positivity HP:0020050 rdfs:label nl Anti-granulocyte-macrophage colony stimulating factor antibody positivity NOT_TRANSLATED +en Anti-hY-RNA complex antibody positivity HP:0034144 rdfs:label nl Anti-hY-RNA complex antibody positivity NOT_TRANSLATED +en Anti-hexokinase-1 antibody positivity HP:0034114 rdfs:label nl Anti-hexokinase-1 antibody positivity NOT_TRANSLATED +en Anti-histidyl tRNA synthetase antibody positivity HP:0034152 rdfs:label nl Anti-histidyl tRNA synthetase antibody positivity NOT_TRANSLATED +en Anti-histone antibody positivity HP:0033558 rdfs:label nl Anti-histone antibody positivity NOT_TRANSLATED +en Anti-insulin antibody positivity HP:0034062 rdfs:label nl Anti-insulin antibody positivity NOT_TRANSLATED +en Anti-integrin antibody positivity HP:4000025 rdfs:label nl Anti-integrin antibody positivity NOT_TRANSLATED +en Anti-intrinsic factor antibody positivity HP:6000344 rdfs:label nl Antilichaampositiviteit tegen intrinsieke factor OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Anti-islet antigen-2 antibody positivity HP:0034063 rdfs:label nl Anti-islet antigen-2 antibody positivity NOT_TRANSLATED +en Anti-isoleucyl tRNA-synthetase antibody positivity HP:0034148 rdfs:label nl Anti-isoleucyl tRNA-synthetase antibody positivity NOT_TRANSLATED +en Anti-laminin 332 antibody positivity HP:4000021 rdfs:label nl Anti-laminin 332 antibody positivity NOT_TRANSLATED +en Anti-laminin 6 antibody positivity HP:4000022 rdfs:label nl Anti-laminin 6 antibody positivity NOT_TRANSLATED +en Anti-laminin antibody positivity HP:4000024 rdfs:label nl Anti-laminin antibody positivity NOT_TRANSLATED +en Anti-laminin gamma1 antibody positivity HP:4000023 rdfs:label nl Anti-laminin gamma1 antibody positivity NOT_TRANSLATED +en Anti-liver cytosolic antigen type 1 antibody positivity HP:0030909 rdfs:label nl Anti-lever cytosolisch antigeen type 1 antistoffen positief CANDIDATE +en Anti-mGluR1 antibody HP:5000024 rdfs:label nl Anti-mGluR1 antibody NOT_TRANSLATED +en Anti-mGluR5 antibody HP:5000025 rdfs:label nl Anti-mGluR5 antibody NOT_TRANSLATED +en Anti-mitochondrial M2 antibody positivity HP:0031907 rdfs:label nl Anti-mitochondrial M2 antibody positivity NOT_TRANSLATED +en Anti-multiple nuclear dots antibody positivity HP:0025353 rdfs:label nl Anti-multiple nuclear dots antibody positivity NOT_TRANSLATED +en Anti-muscle-specific tyrosine kinase antibody HP:0030210 rdfs:label nl Anti-muscle-specific tyrosine kinase antibody NOT_TRANSLATED +en Anti-myelin oligodendrocyte glycoprotein antibody positivity HP:0032492 rdfs:label nl Anti-myelin oligodendrocyte glycoprotein antibody positivity NOT_TRANSLATED +en Anti-myelin-associated glycoprotein antibody positivity HP:0025629 rdfs:label nl Anti-myelin-associated glycoprotein antibody positivity NOT_TRANSLATED +en Anti-myeloperoxidase antibody positivity HP:0033559 rdfs:label nl Anti-myeloperoxidase antibody positivity NOT_TRANSLATED +en Anti-neurexin-3alpha antibody positivity HP:5000026 rdfs:label nl Anti-neurexin-3alpha antibody positivity NOT_TRANSLATED +en Anti-neurofascin 186 antibody positivity HP:0034136 rdfs:label nl Anti-neurofascin 186 antibody positivity NOT_TRANSLATED +en Anti-neurofascin-155 antibody positivity HP:0034135 rdfs:label nl Anti-neurofascin-155 antibody positivity NOT_TRANSLATED +en Anti-neutrophil elastase antibody positivity HP:0034104 rdfs:label nl Anti-neutrophil elastase antibody positivity NOT_TRANSLATED +en Anti-nuclear matrix protein-2 antibody positivity HP:0034142 rdfs:label nl Anti-nuclear matrix protein-2 antibody positivity NOT_TRANSLATED +en Anti-nucleolus-organizing region antibody positivity HP:0034083 rdfs:label nl Anti-nucleolus-organizing region antibody positivity NOT_TRANSLATED +en Anti-nucleoporin 62 antibody positivity HP:0033556 rdfs:label nl Anti-nucleoporin 62 antibody positivity NOT_TRANSLATED +en Anti-p53 antibody positivity HP:0034107 rdfs:label nl Anti-p53 antibody positivity NOT_TRANSLATED +en Anti-parotid secretory protein antibody positivity HP:0034069 rdfs:label nl Anti-parotid secretory protein antibody positivity NOT_TRANSLATED +en Anti-periplakin antibody positivity HP:4000016 rdfs:label nl Anti-periplakin antibody positivity NOT_TRANSLATED +en Anti-phenylalanyl tRNA synthetase antibody positivity HP:0034149 rdfs:label nl Anti-phenylalanyl tRNA synthetase antibody positivity NOT_TRANSLATED +en Anti-phosphatidic acid antibody positivity HP:0034096 rdfs:label nl Anti-phosphatidic acid antibody positivity NOT_TRANSLATED +en Anti-phosphatidyl choline antibody positivity HP:0034097 rdfs:label nl Anti-phosphatidyl choline antibody positivity NOT_TRANSLATED +en Anti-phosphatidyl ethanolamine antibody positivity HP:0034084 rdfs:label nl Anti-phosphatidyl ethanolamine antibody positivity NOT_TRANSLATED +en Anti-phosphatidyl glycerol antibody positivity HP:0034098 rdfs:label nl Anti-phosphatidyl glycerol antibody positivity NOT_TRANSLATED +en Anti-phosphatidyl inositol antibody positivity HP:0034099 rdfs:label nl Anti-phosphatidyl inositol antibody positivity NOT_TRANSLATED +en Anti-phosphatidyl serine antibody positivity HP:0034100 rdfs:label nl Anti-phosphatidyl serine antibody positivity NOT_TRANSLATED +en Anti-phospholipase A2 receptor antibody positivity HP:0034002 rdfs:label nl Anti-phospholipase A2 receptor antibody positivity NOT_TRANSLATED +en Anti-pituitary antibody positivity HP:0025381 rdfs:label nl Anti-hypofyse antistoffen positiviteit CANDIDATE +en Anti-plasminogen binding peptide antibody positivity HP:0034068 rdfs:label nl Anti-plasminogen binding peptide antibody positivity NOT_TRANSLATED +en Anti-platelet antigen antibody positivity HP:4000170 rdfs:label nl Anti-plaatjes antigeen antilichaam positiviteit OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Anti-platelet derived growth factor receptor HP:0034091 rdfs:label nl Anti-platelet derived growth factor receptor NOT_TRANSLATED +en Anti-proteinase 3 antibody positivity HP:0033557 rdfs:label nl Anti-proteinase 3 antibody positivity NOT_TRANSLATED +en Anti-reticulin antibody positivity HP:4000030 rdfs:label nl Anti-reticulin antibody positivity NOT_TRANSLATED +en Anti-ribosome Po antibody positivity HP:0034076 rdfs:label nl Anti-ribosome Po antibody positivity NOT_TRANSLATED +en Anti-ryanodine receptor antibody HP:5000047 rdfs:label nl Anti-ryanodine receptor antibody NOT_TRANSLATED +en Anti-salivary protein antibody positivity HP:0034064 rdfs:label nl Anti-salivary protein antibody positivity NOT_TRANSLATED +en Anti-side-chain cleavage enzyme antibody positivity HP:0034055 rdfs:label nl Anti-side-chain cleavage enzyme antibody positivity NOT_TRANSLATED +en Anti-signal recognition particle antibody positivity HP:0033713 rdfs:label nl Anti-signal recognition particle antibody positivity NOT_TRANSLATED +en Anti-sp100 antibody positivity HP:0034155 rdfs:label nl Anti-sp100 antibody positivity NOT_TRANSLATED +en Anti-sphingolipid antibody positivity HP:0034102 rdfs:label nl Anti-sphingolipid antibody positivity NOT_TRANSLATED +en Anti-steroid 17alpha-hydroxylase antibody positivity HP:0034061 rdfs:label nl Anti-steroid 17alpha-hydroxylase antibody positivity NOT_TRANSLATED +en Anti-threonyl-tRNA synthetase antibody positivity HP:0034143 rdfs:label nl Anti-threonyl-tRNA synthetase antibody positivity NOT_TRANSLATED +en Anti-thyroglobulin antibody positivity HP:0032069 rdfs:label nl Anti-thyroglobulin antibody positivity NOT_TRANSLATED +en Anti-thyroid antibody positivity HP:0430050 rdfs:label nl Anti-schildklier antilichaam positiviteit OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Anti-thyroid peroxidase antibody positivity HP:0025379 rdfs:label nl Anti thyroïd-peroxidase antistoffen positief CANDIDATE +en Anti-thyroid-stimulating hormone receptor antibody positivity HP:0034189 rdfs:label nl Anti-thyroid-stimulating hormone receptor antibody positivity NOT_TRANSLATED +en Anti-thyrotropin receptor antibody HP:0034116 rdfs:label nl Anti-thyrotropin receptor antibody NOT_TRANSLATED +en Anti-tissue transglutaminase antibody positivity HP:0033563 rdfs:label nl Anti-tissue transglutaminase antibody positivity NOT_TRANSLATED +en Anti-titin antibody positivity HP:5000038 rdfs:label nl Anti-titin antibody positivity NOT_TRANSLATED +en Anti-topoisomerase I antibody positivity HP:0030859 rdfs:label nl Topoisomerase I antistoffen positiviteit CANDIDATE +en Anti-transcription intermediary factor-1gamma antibody positivity HP:0034105 rdfs:label nl Anti-transcription intermediary factor-1gamma antibody positivity NOT_TRANSLATED +en Anti-transglutaminase 6 antibody HP:4000026 rdfs:label nl Anti-transglutaminase 6 antibody NOT_TRANSLATED +en Anti-type VII collagen antibody HP:4000031 rdfs:label nl Anti-type VII collagen antibody NOT_TRANSLATED +en Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity HP:0034158 rdfs:label nl Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity NOT_TRANSLATED +en Anti-tyrosyl-tRNA synthetase antibody positivity HP:0034150 rdfs:label nl Anti-tyrosyl-tRNA synthetase antibody positivity NOT_TRANSLATED +en Anticardiolipin IgG antibody positivity HP:0020136 rdfs:label nl Anticardiolipin IgG antibody positivity NOT_TRANSLATED +en Anticardiolipin IgM antibody positivity HP:0020137 rdfs:label nl Anticardiolipin IgM antibody positivity NOT_TRANSLATED +en Antidromic atrioventricular reentrant tachycardia HP:0031674 rdfs:label nl Antidromische atrioventriculaire re-entry tachycardie CANDIDATE +en Antigliadin antibody positivity HP:4000029 rdfs:label nl Antigliadin antibody positivity NOT_TRANSLATED +en Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc HP:0011236 IAO:0000115 nl Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc NOT_TRANSLATED +en Antihelical shelf HP:0011233 rdfs:label nl Antihelical shelf NOT_TRANSLATED +en Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha HP:0011233 IAO:0000115 nl Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha NOT_TRANSLATED +en Antilactoferrin antibody positivity HP:0033395 rdfs:label nl Antilactoferrin antibody positivity NOT_TRANSLATED +en Antimitochondrial antibody positivity HP:0030167 rdfs:label nl Antimitochondriale antistoffen positiviteit CANDIDATE +en Antineutrophil antibody positivity HP:0003453 rdfs:label nl Antineutrofiele antistoffen positiviteit CANDIDATE +en Antinuclear antibody positivity HP:0003493 rdfs:label nl Positieve antinucleaire antistoffen CANDIDATE +en Antiphospholipid antibody positivity HP:0003613 rdfs:label nl Antifosfolipiden antistoffen positiviteit CANDIDATE +en Anuria HP:0100519 rdfs:label nl Anurie CANDIDATE +en Anxiety HP:0000739 rdfs:label nl Angst CANDIDATE +en Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake HP:0006979 IAO:0000115 nl Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake NOT_TRANSLATED +en Any abnormal behavior related to communication HP:0034434 IAO:0000115 nl Any abnormal behavior related to communication NOT_TRANSLATED +en Any abnormal behavior related to communication with language HP:4000072 IAO:0000115 nl Any abnormal behavior related to communication with language NOT_TRANSLATED +en Any abnormal increase or reduction in skin elasticity HP:0010647 IAO:0000115 nl Any abnormal increase or reduction in skin elasticity NOT_TRANSLATED +en Any abnormal noise generated by the beating heart HP:0031657 IAO:0000115 nl Any abnormal noise generated by the beating heart NOT_TRANSLATED +en Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures HP:0000758 IAO:0000115 nl Any abnormal nonverbal communication, such as reduced use of eye-to-eye gaze, atypical facial expressions, body posture, and gestures NOT_TRANSLATED +en Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years HP:0008371 IAO:0000115 nl Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years NOT_TRANSLATED +en Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules HP:0031550 IAO:0000115 nl Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules NOT_TRANSLATED +en Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage HP:0032929 IAO:0000115 nl Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage NOT_TRANSLATED +en Any abnormal sttructure of the glomerular basement membrane HP:0033282 IAO:0000115 nl Any abnormal sttructure of the glomerular basement membrane NOT_TRANSLATED +en Any abnormality affecting the cortex of the humerus HP:0010629 IAO:0000115 nl Any abnormality affecting the cortex of the humerus NOT_TRANSLATED +en Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific HP:0410035 IAO:0000115 nl Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific NOT_TRANSLATED +en Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population HP:0031380 IAO:0000115 nl Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population NOT_TRANSLATED +en Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population HP:0031379 IAO:0000115 nl Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population NOT_TRANSLATED +en Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population HP:0031377 IAO:0000115 nl Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population NOT_TRANSLATED +en Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population HP:0031378 IAO:0000115 nl Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population NOT_TRANSLATED +en Any abnormality in the proportion T cells subsets relative to the total number of T cells HP:0025540 IAO:0000115 nl Any abnormality in the proportion T cells subsets relative to the total number of T cells NOT_TRANSLATED +en Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells HP:0500033 IAO:0000115 nl Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells NOT_TRANSLATED +en Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells HP:0045080 IAO:0000115 nl Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells NOT_TRANSLATED +en Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells HP:0031392 IAO:0000115 nl Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells NOT_TRANSLATED +en Any abnormality in the proportion of CD8 T cells relative to the total number of T cells HP:0031393 IAO:0000115 nl Any abnormality in the proportion of CD8 T cells relative to the total number of T cells NOT_TRANSLATED +en Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells HP:0410373 IAO:0000115 nl Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells NOT_TRANSLATED +en Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells HP:0410374 IAO:0000115 nl Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells NOT_TRANSLATED +en Any abnormality in the proportion of naive T cells relative to the total number of T cells HP:0031396 IAO:0000115 nl Any abnormality in the proportion of naive T cells relative to the total number of T cells NOT_TRANSLATED +en Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes HP:0031394 IAO:0000115 nl Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes NOT_TRANSLATED +en Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription HP:0031406 IAO:0000115 nl Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription NOT_TRANSLATED +en Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity HP:0040135 IAO:0000115 nl Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity NOT_TRANSLATED +en Any abnormality in the total number of lymphocytes in the blood HP:0040088 IAO:0000115 nl Any abnormality in the total number of lymphocytes in the blood NOT_TRANSLATED +en Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression HP:0031269 IAO:0000115 nl Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression NOT_TRANSLATED +en Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus HP:0031267 IAO:0000115 nl Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus NOT_TRANSLATED +en Any abnormality in the variability of the time interval between successive heartbeats HP:0031860 IAO:0000115 nl Any abnormality in the variability of the time interval between successive heartbeats NOT_TRANSLATED +en Any abnormality of a metatarsal bone epiphysis HP:0010630 IAO:0000115 nl Any abnormality of a metatarsal bone epiphysis NOT_TRANSLATED +en Any abnormality of bones of the arms or legs HP:0002813 IAO:0000115 nl Any abnormality of bones of the arms or legs NOT_TRANSLATED +en Any abnormality of dentin HP:0010299 IAO:0000115 nl Any abnormality of dentin NOT_TRANSLATED +en Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that are interpreted to be appropriate may follow social and situational norms HP:0034435 IAO:0000115 nl Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that are interpreted to be appropriate may follow social and situational norms NOT_TRANSLATED +en Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization HP:0033797 IAO:0000115 nl Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization NOT_TRANSLATED +en Any abnormality of nasopharyngeal adenoids HP:3000033 IAO:0000115 nl Any abnormality of nasopharyngeal adenoids NOT_TRANSLATED +en Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response HP:4000056 IAO:0000115 nl Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response NOT_TRANSLATED +en Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth HP:0006477 IAO:0000115 nl Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth NOT_TRANSLATED +en Any abnormality of the aortic valve HP:0001646 IAO:0000115 nl Any abnormality of the aortic valve NOT_TRANSLATED +en Any abnormality of the atlas and the axis HP:0008440 IAO:0000115 nl Any abnormality of the atlas and the axis NOT_TRANSLATED +en Any abnormality of the back muscles HP:0410168 IAO:0000115 nl Any abnormality of the back muscles NOT_TRANSLATED +en Any abnormality of the blood vessels of the conjunctiva HP:0008054 IAO:0000115 nl Any abnormality of the blood vessels of the conjunctiva NOT_TRANSLATED +en Any abnormality of the brachial nerve plexus HP:0045052 IAO:0000115 nl Any abnormality of the brachial nerve plexus NOT_TRANSLATED +en Any abnormality of the cardiovascular system HP:0001626 IAO:0000115 nl Any abnormality of the cardiovascular system NOT_TRANSLATED +en Any abnormality of the cervical vertebral column HP:0003319 IAO:0000115 nl Any abnormality of the cervical vertebral column NOT_TRANSLATED +en Any abnormality of the chest muscles HP:0410167 IAO:0000115 nl Any abnormality of the chest muscles NOT_TRANSLATED +en Any abnormality of the clavicles (collar bones) HP:0000889 IAO:0000115 nl Any abnormality of the clavicles (collar bones) NOT_TRANSLATED +en Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber HP:0000481 IAO:0000115 nl Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber NOT_TRANSLATED +en Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity HP:0000775 IAO:0000115 nl Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity NOT_TRANSLATED +en Any abnormality of the distal epiphysis of the femur HP:0010590 IAO:0000115 nl Any abnormality of the distal epiphysis of the femur NOT_TRANSLATED +en Any abnormality of the distal epiphysis of the fibula HP:0010595 IAO:0000115 nl Any abnormality of the distal epiphysis of the fibula NOT_TRANSLATED +en Any abnormality of the distal epiphysis of the humerus HP:0010599 IAO:0000115 nl Any abnormality of the distal epiphysis of the humerus NOT_TRANSLATED +en Any abnormality of the distal epiphysis of the radius HP:0010597 IAO:0000115 nl Any abnormality of the distal epiphysis of the radius NOT_TRANSLATED +en Any abnormality of the distal epiphysis of the ulna HP:0010600 IAO:0000115 nl Any abnormality of the distal epiphysis of the ulna NOT_TRANSLATED +en Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography HP:0000512 IAO:0000115 nl Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography NOT_TRANSLATED +en Any abnormality of the epiphyses of the feet HP:0010631 IAO:0000115 nl Any abnormality of the epiphyses of the feet NOT_TRANSLATED +en Any abnormality of the epiphyses of the phalanges or metacarpal bones HP:0005924 IAO:0000115 nl Any abnormality of the epiphyses of the phalanges or metacarpal bones NOT_TRANSLATED +en Any abnormality of the epiphysis of the 4th metacarpal bone HP:0010224 IAO:0000115 nl Any abnormality of the epiphysis of the 4th metacarpal bone NOT_TRANSLATED +en Any abnormality of the epiphysis of the fifth metacarpal bone HP:0010226 IAO:0000115 nl Any abnormality of the epiphysis of the fifth metacarpal bone NOT_TRANSLATED +en Any abnormality of the epiphysis of the second metacarpal bone HP:0010220 IAO:0000115 nl Any abnormality of the epiphysis of the second metacarpal bone NOT_TRANSLATED +en Any abnormality of the epiphysis of the third metacarpal bone HP:0010222 IAO:0000115 nl Any abnormality of the epiphysis of the third metacarpal bone NOT_TRANSLATED +en Any abnormality of the eye, including location, spacing, and intraocular abnormalities HP:0000478 IAO:0000115 nl Any abnormality of the eye, including location, spacing, and intraocular abnormalities NOT_TRANSLATED +en Any abnormality of the fifth metacarpal bone HP:0010013 IAO:0000115 nl Any abnormality of the fifth metacarpal bone NOT_TRANSLATED +en Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments) HP:0000235 IAO:0000115 nl Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments) NOT_TRANSLATED +en Any abnormality of the foramen magnum HP:0002699 IAO:0000115 nl Any abnormality of the foramen magnum NOT_TRANSLATED +en Any abnormality of the fourth metacarpal bone HP:0010012 IAO:0000115 nl Any abnormality of the fourth metacarpal bone NOT_TRANSLATED +en Any abnormality of the gingiva (also known as gums) HP:0000168 IAO:0000115 nl Elke afwijking van het gingiva (ook bekend als tandvlees) CANDIDATE +en Any abnormality of the large intestine HP:0002250 IAO:0000115 nl Any abnormality of the large intestine NOT_TRANSLATED +en Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent HP:0034314 IAO:0000115 nl Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent NOT_TRANSLATED +en Any abnormality of the lumbosacral nerve plexus HP:0045053 IAO:0000115 nl Any abnormality of the lumbosacral nerve plexus NOT_TRANSLATED +en Any abnormality of the mandible, the bone of the lower jaw HP:0000277 IAO:0000115 nl Any abnormality of the mandible, the bone of the lower jaw NOT_TRANSLATED +en Any abnormality of the masticatory muscle HP:0410011 IAO:0000115 nl Any abnormality of the masticatory muscle NOT_TRANSLATED +en Any abnormality of the morphology of the major calices or minor calices of the kidney HP:0011130 IAO:0000115 nl Any abnormality of the morphology of the major calices or minor calices of the kidney NOT_TRANSLATED +en Any abnormality of the mouth floor HP:0410012 IAO:0000115 nl Any abnormality of the mouth floor NOT_TRANSLATED +en Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers HP:0003398 IAO:0000115 nl Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers NOT_TRANSLATED +en Any abnormality of the palate, i.e., of roof of the mouth HP:0000174 IAO:0000115 nl Any abnormality of the palate, i.e., of roof of the mouth NOT_TRANSLATED +en Any abnormality of the parietal bone of the skull HP:0002696 IAO:0000115 nl Any abnormality of the parietal bone of the skull NOT_TRANSLATED +en Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear HP:0000197 IAO:0000115 nl Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear NOT_TRANSLATED +en Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord HP:0410008 IAO:0000115 nl Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord NOT_TRANSLATED +en Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements HP:0410009 IAO:0000115 nl Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements NOT_TRANSLATED +en Any abnormality of the periodontium HP:0410026 IAO:0000115 nl Any abnormality of the periodontium NOT_TRANSLATED +en Any abnormality of the physiological function of the skin HP:0011122 IAO:0000115 nl Any abnormality of the physiological function of the skin NOT_TRANSLATED +en Any abnormality of the primary tooth HP:0006481 IAO:0000115 nl Any abnormality of the primary tooth NOT_TRANSLATED +en Any abnormality of the proximal epiphysis of the femur HP:0010574 IAO:0000115 nl Any abnormality of the proximal epiphysis of the femur NOT_TRANSLATED +en Any abnormality of the proximal epiphysis of the fibula HP:0010594 IAO:0000115 nl Any abnormality of the proximal epiphysis of the fibula NOT_TRANSLATED +en Any abnormality of the proximal epiphysis of the humerus HP:0010598 IAO:0000115 nl Any abnormality of the proximal epiphysis of the humerus NOT_TRANSLATED +en Any abnormality of the proximal epiphysis of the radius HP:0010596 IAO:0000115 nl Any abnormality of the proximal epiphysis of the radius NOT_TRANSLATED +en Any abnormality of the proximal epiphysis of the tibia HP:0010591 IAO:0000115 nl Any abnormality of the proximal epiphysis of the tibia NOT_TRANSLATED +en Any abnormality of the proximal epiphysis of the ulna HP:0010601 IAO:0000115 nl Any abnormality of the proximal epiphysis of the ulna NOT_TRANSLATED +en Any abnormality of the salivary glands, the exocrine glands that produce saliva HP:0010286 IAO:0000115 nl Any abnormality of the salivary glands, the exocrine glands that produce saliva NOT_TRANSLATED +en Any abnormality of the scapula, also known as the shoulder blade HP:0000782 IAO:0000115 nl Any abnormality of the scapula, also known as the shoulder blade NOT_TRANSLATED +en Any abnormality of the second metacarpal bone HP:0010010 IAO:0000115 nl Any abnormality of the second metacarpal bone NOT_TRANSLATED +en Any abnormality of the shoulder muscles HP:0410169 IAO:0000115 nl Any abnormality of the shoulder muscles NOT_TRANSLATED +en Any abnormality of the size of the skeletal muscle cell HP:0012084 IAO:0000115 nl Any abnormality of the size of the skeletal muscle cell NOT_TRANSLATED +en Any abnormality of the size of the skull HP:0000240 IAO:0000115 nl Any abnormality of the size of the skull NOT_TRANSLATED +en Any abnormality of the size or morphology of the cornea HP:0001120 IAO:0000115 nl Any abnormality of the size or morphology of the cornea NOT_TRANSLATED +en Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers HP:0004303 IAO:0000115 nl Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers NOT_TRANSLATED +en Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat) HP:0003549 IAO:0000115 nl Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat) NOT_TRANSLATED +en Any abnormality of the somatic nerve plexus HP:0410010 IAO:0000115 nl Any abnormality of the somatic nerve plexus NOT_TRANSLATED +en Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord HP:0010303 IAO:0000115 nl Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord NOT_TRANSLATED +en Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands HP:0010288 IAO:0000115 nl Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands NOT_TRANSLATED +en Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles HP:0010287 IAO:0000115 nl Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles NOT_TRANSLATED +en Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery HP:0410013 IAO:0000115 nl Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery NOT_TRANSLATED +en Any abnormality of the teeth HP:0000164 IAO:0000115 nl Any abnormality of the teeth NOT_TRANSLATED +en Any abnormality of the third metacarpal bone HP:0010011 IAO:0000115 nl Any abnormality of the third metacarpal bone NOT_TRANSLATED +en Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs) HP:0000765 IAO:0000115 nl Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs) NOT_TRANSLATED +en Any abnormality of the tongue HP:0000157 IAO:0000115 nl Een afwijking van de tong CANDIDATE +en Any abnormality of the vertebral column HP:0000925 IAO:0000115 nl Any abnormality of the vertebral column NOT_TRANSLATED +en Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs HP:0005106 IAO:0000115 nl Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs NOT_TRANSLATED +en Any anomaly in the amount of glycogen in muscle tissue HP:0012269 IAO:0000115 nl Any anomaly in the amount of glycogen in muscle tissue NOT_TRANSLATED +en Any anomaly in the composite material or the layered arrangement of the bony skeleton HP:0003330 IAO:0000115 nl Any anomaly in the composite material or the layered arrangement of the bony skeleton NOT_TRANSLATED +en Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid HP:0025688 IAO:0000115 nl Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid NOT_TRANSLATED +en Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance HP:0011849 IAO:0000115 nl Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance NOT_TRANSLATED +en Any anomaly in the formation of the bony substance of the sternum HP:0011863 IAO:0000115 nl Any anomaly in the formation of the bony substance of the sternum NOT_TRANSLATED +en Any anomaly in the function of thrombocytes HP:0011869 IAO:0000115 nl Any anomaly in the function of thrombocytes NOT_TRANSLATED +en Any anomaly in the process by which myelin sheaths are formed and maintained around neurons HP:0012447 IAO:0000115 nl Any anomaly in the process by which myelin sheaths are formed and maintained around neurons NOT_TRANSLATED +en Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location HP:0025404 IAO:0000115 nl Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location NOT_TRANSLATED +en Any anomaly in the utilization of energy (calories) HP:0012338 IAO:0000115 nl Any anomaly in the utilization of energy (calories) NOT_TRANSLATED +en Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography HP:0030878 IAO:0000115 nl Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography NOT_TRANSLATED +en Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant HP:0011329 IAO:0000115 nl Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant NOT_TRANSLATED +en Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur) HP:0031826 IAO:0000115 nl Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur) NOT_TRANSLATED +en Any anomaly of a subclavian artery HP:0031251 IAO:0000115 nl Any anomaly of a subclavian artery NOT_TRANSLATED +en Any anomaly of cell structure HP:0025461 IAO:0000115 nl Any anomaly of cell structure NOT_TRANSLATED +en Any anomaly of distal epiphysis of phalanx of finger HP:0010243 IAO:0000115 nl Any anomaly of distal epiphysis of phalanx of finger NOT_TRANSLATED +en Any anomaly of distal phalanx of finger HP:0009832 IAO:0000115 nl Any anomaly of distal phalanx of finger NOT_TRANSLATED +en Any anomaly of lymphocyte function HP:0031409 IAO:0000115 nl Any anomaly of lymphocyte function NOT_TRANSLATED +en Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells HP:0031515 IAO:0000115 nl Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells NOT_TRANSLATED +en Any anomaly of ovarian function HP:0031066 IAO:0000115 nl Any anomaly of ovarian function NOT_TRANSLATED +en Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria HP:0031595 IAO:0000115 nl Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria NOT_TRANSLATED +en Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart HP:0032195 IAO:0000115 nl Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart NOT_TRANSLATED +en Any anomaly of the anterior horn cell HP:0006802 IAO:0000115 nl Any anomaly of the anterior horn cell NOT_TRANSLATED +en Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal HP:0030787 IAO:0000115 nl Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal NOT_TRANSLATED +en Any anomaly of the conduction of motor nerve impulses in the central nervous system HP:0012079 IAO:0000115 nl Any anomaly of the conduction of motor nerve impulses in the central nervous system NOT_TRANSLATED +en Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum HP:0000919 IAO:0000115 nl Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum NOT_TRANSLATED +en Any anomaly of the distal phalanx of thumb HP:0009617 IAO:0000115 nl Any anomaly of the distal phalanx of thumb NOT_TRANSLATED +en Any anomaly of the function of a coronary artery HP:0025496 IAO:0000115 nl Any anomaly of the function of a coronary artery NOT_TRANSLATED +en Any anomaly of the function of the breast HP:0031094 IAO:0000115 nl Any anomaly of the function of the breast NOT_TRANSLATED +en Any anomaly of the function of the bronchi HP:0025427 IAO:0000115 nl Any anomaly of the function of the bronchi NOT_TRANSLATED +en Any anomaly of the function of the endocrine system HP:0031072 IAO:0000115 nl Any anomaly of the function of the endocrine system NOT_TRANSLATED +en Any anomaly of the function of the larynx HP:0025424 IAO:0000115 nl Any anomaly of the function of the larynx NOT_TRANSLATED +en Any anomaly of the function of the spleen HP:0025409 IAO:0000115 nl Any anomaly of the function of the spleen NOT_TRANSLATED +en Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages HP:0012647 IAO:0000115 nl Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages NOT_TRANSLATED +en Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions HP:0012262 IAO:0000115 nl Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions NOT_TRANSLATED +en Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve HP:0031605 IAO:0000115 nl Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve NOT_TRANSLATED +en Any anomaly of the progression of electrical impulses through the heart HP:0031546 IAO:0000115 nl Any anomaly of the progression of electrical impulses through the heart NOT_TRANSLATED +en Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles HP:0030671 IAO:0000115 nl Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles NOT_TRANSLATED +en Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows HP:0001965 IAO:0000115 nl Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows NOT_TRANSLATED +en Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration HP:0031661 IAO:0000115 nl Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration NOT_TRANSLATED +en Any anomaly of the structure of an organ ofthe endocrine system HP:0031071 IAO:0000115 nl Any anomaly of the structure of an organ ofthe endocrine system NOT_TRANSLATED +en Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments HP:0031538 IAO:0000115 nl Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments NOT_TRANSLATED +en Any anomaly of the structure of the breast HP:0031093 IAO:0000115 nl Any anomaly of the structure of the breast NOT_TRANSLATED +en Any anomaly of the structure of the femur HP:0002823 IAO:0000115 nl Any anomaly of the structure of the femur NOT_TRANSLATED +en Any anomaly of the structure of the humerus HP:0031095 IAO:0000115 nl Any anomaly of the structure of the humerus NOT_TRANSLATED +en Any anomaly of the structure of the larynx HP:0025423 IAO:0000115 nl Any anomaly of the structure of the larynx NOT_TRANSLATED +en Any anomaly of the structure of the spleen HP:0025408 IAO:0000115 nl Any anomaly of the structure of the spleen NOT_TRANSLATED +en Any anomaly of the structure of the uterus HP:0031105 IAO:0000115 nl Any anomaly of the structure of the uterus NOT_TRANSLATED +en Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) HP:0031547 IAO:0000115 nl Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) NOT_TRANSLATED +en Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation HP:0025429 IAO:0000115 nl Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation NOT_TRANSLATED +en Any anomaly of vagina function HP:0034268 IAO:0000115 nl Any anomaly of vagina function NOT_TRANSLATED +en Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule HP:0031263 IAO:0000115 nl Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule NOT_TRANSLATED +en Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both HP:0011675 IAO:0000115 nl Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both NOT_TRANSLATED +en Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations HP:0200127 IAO:0000115 nl Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations NOT_TRANSLATED +en Any cystic lesion associated with the umbilical cord HP:0030654 IAO:0000115 nl Any cystic lesion associated with the umbilical cord NOT_TRANSLATED +en Any decreased amount from normal of valine in the cerebrospinal fluid HP:0500188 IAO:0000115 nl Any decreased amount from normal of valine in the cerebrospinal fluid NOT_TRANSLATED +en Any defect in the valve connecting the heart and the pulmonary artery HP:0005148 IAO:0000115 nl Any defect in the valve connecting the heart and the pulmonary artery NOT_TRANSLATED +en Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels HP:0030389 IAO:0000115 nl Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels NOT_TRANSLATED +en Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve HP:0033084 IAO:0000115 nl Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve NOT_TRANSLATED +en Any deviation from normal concentration of albumin in the blood circulation HP:0033450 IAO:0000115 nl Any deviation from normal concentration of albumin in the blood circulation NOT_TRANSLATED +en Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker HP:0031221 IAO:0000115 nl Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker NOT_TRANSLATED +en Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something HP:4000068 IAO:0000115 nl Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something NOT_TRANSLATED +en Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs) HP:0033752 IAO:0000115 nl Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs) NOT_TRANSLATED +en Any deviation from the activity of coagulation factor V HP:0031899 IAO:0000115 nl Any deviation from the activity of coagulation factor V NOT_TRANSLATED +en Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen HP:0034510 IAO:0000115 nl Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen NOT_TRANSLATED +en Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids HP:0034027 IAO:0000115 nl Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids NOT_TRANSLATED +en Any deviation from the normal amount of a metabolite in urine HP:0033354 IAO:0000115 nl Any deviation from the normal amount of a metabolite in urine NOT_TRANSLATED +en Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines HP:0033161 IAO:0000115 nl Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines NOT_TRANSLATED +en Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines HP:0033162 IAO:0000115 nl Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines NOT_TRANSLATED +en Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland HP:0031097 IAO:0000115 nl Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland NOT_TRANSLATED +en Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT HP:0032199 IAO:0000115 nl Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT NOT_TRANSLATED +en Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging HP:0034072 IAO:0000115 nl Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging NOT_TRANSLATED +en Any deviation from the normal cell count per volume of granulocytes in the blood circulation HP:0032309 IAO:0000115 nl Any deviation from the normal cell count per volume of granulocytes in the blood circulation NOT_TRANSLATED +en Any deviation from the normal circulating concentration of chylomicrons HP:0031887 IAO:0000115 nl Any deviation from the normal circulating concentration of chylomicrons NOT_TRANSLATED +en Any deviation from the normal circulating concentration of selenium HP:0031903 IAO:0000115 nl Any deviation from the normal circulating concentration of selenium NOT_TRANSLATED +en Any deviation from the normal circulating creatine kinase concentration HP:0040081 IAO:0000115 nl Any deviation from the normal circulating creatine kinase concentration NOT_TRANSLATED +en Any deviation from the normal circulation of leucine in the blood circulation HP:0004357 IAO:0000115 nl Any deviation from the normal circulation of leucine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal circulation of valine in the blood circulation HP:0010914 IAO:0000115 nl Any deviation from the normal circulation of valine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid HP:0033108 IAO:0000115 nl Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid NOT_TRANSLATED +en Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium HP:0100530 IAO:0000115 nl Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium NOT_TRANSLATED +en Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine HP:0012071 IAO:0000115 nl Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine NOT_TRANSLATED +en Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids HP:0033109 IAO:0000115 nl Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids NOT_TRANSLATED +en Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid) HP:0030361 IAO:0000115 nl Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid) NOT_TRANSLATED +en Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation HP:0020198 IAO:0000115 nl Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of C-reactive protein in the blood circulation HP:0032436 IAO:0000115 nl Any deviation from the normal concentration of C-reactive protein in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a aromatic amino acid in the blood circulation HP:0004338 IAO:0000115 nl Any deviation from the normal concentration of a aromatic amino acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation HP:0010892 IAO:0000115 nl Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a carbohydrate in the urine HP:0031979 IAO:0000115 nl Any deviation from the normal concentration of a carbohydrate in the urine NOT_TRANSLATED +en Any deviation from the normal concentration of a carboxylic acid in the blood circulation HP:0004354 IAO:0000115 nl Any deviation from the normal concentration of a carboxylic acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid HP:0500183 IAO:0000115 nl Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of a carboxylic acid in the urine HP:0031980 IAO:0000115 nl Any deviation from the normal concentration of a carboxylic acid in the urine NOT_TRANSLATED +en Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation HP:0010995 IAO:0000115 nl Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a fatty acid anion in the blood circulation HP:0010966 IAO:0000115 nl Any deviation from the normal concentration of a fatty acid anion in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a free fatty acid in the blood circulation HP:0040300 IAO:0000115 nl Any deviation from the normal concentration of a free fatty acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation HP:0010902 IAO:0000115 nl Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a lipid in the blood circulation HP:0003119 IAO:0000115 nl Any deviation from the normal concentration of a lipid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation HP:0010964 IAO:0000115 nl Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a metabolite in a tissue HP:0032243 IAO:0000115 nl Any deviation from the normal concentration of a metabolite in a tissue NOT_TRANSLATED +en Any deviation from the normal concentration of a metabolite in saliva HP:0033012 IAO:0000115 nl Any deviation from the normal concentration of a metabolite in saliva NOT_TRANSLATED +en Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation HP:0010996 IAO:0000115 nl Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a nitrogen compound in the blood circulation HP:0004364 IAO:0000115 nl Any deviation from the normal concentration of a nitrogen compound in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a phospholipid in the blood circulation HP:0040176 IAO:0000115 nl Any deviation from the normal concentration of a phospholipid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a prostaglandin in the blood circulation HP:0011023 IAO:0000115 nl Any deviation from the normal concentration of a prostaglandin in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a purine in the blood circulation HP:0004352 IAO:0000115 nl Any deviation from the normal concentration of a purine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a pyrimidine in the blood circulation HP:0004353 IAO:0000115 nl Any deviation from the normal concentration of a pyrimidine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a serine family amino acid in the blood circulation HP:0010894 IAO:0000115 nl Any deviation from the normal concentration of a serine family amino acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a sex hormone in the blood circulation HP:0033799 IAO:0000115 nl Any deviation from the normal concentration of a sex hormone in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation HP:0033147 IAO:0000115 nl Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of a sulfur amino acid in the blood circulation HP:0004339 IAO:0000115 nl Any deviation from the normal concentration of a sulfur amino acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of alanine in the cerebrospinal fluid HP:0500232 IAO:0000115 nl Any deviation from the normal concentration of alanine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of albumin in the cerebrospinal fluid HP:0500238 IAO:0000115 nl Any deviation from the normal concentration of albumin in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid HP:0500247 IAO:0000115 nl Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of amino acids in the cerebrospinal fluid HP:0500184 IAO:0000115 nl Any deviation from the normal concentration of amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form HP:0025686 IAO:0000115 nl Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form NOT_TRANSLATED +en Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form HP:0025683 IAO:0000115 nl Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form NOT_TRANSLATED +en Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation HP:0010899 IAO:0000115 nl Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups HP:0033405 IAO:0000115 nl Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups NOT_TRANSLATED +en Any deviation from the normal concentration of androstenedione in the blood circulation HP:0033811 IAO:0000115 nl Any deviation from the normal concentration of androstenedione in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of arginine in the blood circulation HP:0010909 IAO:0000115 nl Any deviation from the normal concentration of arginine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of arginine in the cerebrospinal fluid HP:0500202 IAO:0000115 nl Any deviation from the normal concentration of arginine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid HP:0500214 IAO:0000115 nl Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of asparagine in the blood circulation HP:0500155 IAO:0000115 nl Any deviation from the normal concentration of asparagine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of aspartate in the blood circulation HP:0500158 IAO:0000115 nl Any deviation from the normal concentration of aspartate in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid HP:0500205 IAO:0000115 nl Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid HP:0500216 IAO:0000115 nl Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation HP:0032065 IAO:0000115 nl Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation NOT_TRANSLATED +en Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid HP:0500185 IAO:0000115 nl Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of calcium in the blood circulation HP:0004363 IAO:0000115 nl Any deviation from the normal concentration of calcium in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of carnitine in the blood circulation HP:0010967 IAO:0000115 nl Any deviation from the normal concentration of carnitine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of carnosine in the blood circulation HP:0500160 IAO:0000115 nl Any deviation from the normal concentration of carnosine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of carnosine in the cerebrospinal fluid HP:0500240 IAO:0000115 nl Any deviation from the normal concentration of carnosine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of cholesterol in the blood circulation HP:0003107 IAO:0000115 nl Any deviation from the normal concentration of cholesterol in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) HP:0032481 IAO:0000115 nl Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081) NOT_TRANSLATED +en Any deviation from the normal concentration of citrulline in the blood circulation HP:0011965 IAO:0000115 nl Any deviation from the normal concentration of citrulline in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of citrulline in the cerebrospinal fluid HP:0500245 IAO:0000115 nl Any deviation from the normal concentration of citrulline in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of cortisol in saliva HP:0033013 IAO:0000115 nl Any deviation from the normal concentration of cortisol in saliva NOT_TRANSLATED +en Any deviation from the normal concentration of cystatin C in serum or plasma HP:0032996 IAO:0000115 nl Any deviation from the normal concentration of cystatin C in serum or plasma NOT_TRANSLATED +en Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production HP:0034442 IAO:0000115 nl Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production NOT_TRANSLATED +en Any deviation from the normal concentration of ethanolamine in circulation HP:0500249 IAO:0000115 nl Any deviation from the normal concentration of ethanolamine in circulation NOT_TRANSLATED +en Any deviation from the normal concentration of fetuin A in the blood circulation HP:0033305 IAO:0000115 nl Any deviation from the normal concentration of fetuin A in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of folate in the blood circulation HP:0040087 IAO:0000115 nl Any deviation from the normal concentration of folate in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation HP:0034025 IAO:0000115 nl Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of glutamate in the blood circulation HP:0500148 IAO:0000115 nl Any deviation from the normal concentration of glutamate in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid HP:0500199 IAO:0000115 nl Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid HP:0500196 IAO:0000115 nl Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of glutamine in the blood circulation HP:0010903 IAO:0000115 nl Any deviation from the normal concentration of glutamine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid HP:0500195 IAO:0000115 nl Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of glycerol in the blood HP:0031795 IAO:0000115 nl Any deviation from the normal concentration of glycerol in the blood NOT_TRANSLATED +en Any deviation from the normal concentration of glycine in the blood circulation HP:0010895 IAO:0000115 nl Any deviation from the normal concentration of glycine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of glycine in the cerebrospinal fluid HP:0500229 IAO:0000115 nl Any deviation from the normal concentration of glycine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of hemoglobin in the blood HP:0020061 IAO:0000115 nl Any deviation from the normal concentration of hemoglobin in the blood NOT_TRANSLATED +en Any deviation from the normal concentration of hepcidin in the blood circulation HP:0031875 IAO:0000115 nl Any deviation from the normal concentration of hepcidin in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood HP:0031888 IAO:0000115 nl Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood NOT_TRANSLATED +en Any deviation from the normal concentration of histidine in the cerebrospinal fluid HP:0500235 IAO:0000115 nl Any deviation from the normal concentration of histidine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid HP:0500241 IAO:0000115 nl Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine HP:0034200 IAO:0000115 nl Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine NOT_TRANSLATED +en Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone HP:0031099 IAO:0000115 nl Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone NOT_TRANSLATED +en Any deviation from the normal concentration of isoleucine in the blood circulation HP:0010912 IAO:0000115 nl Any deviation from the normal concentration of isoleucine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid HP:0500192 IAO:0000115 nl Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of leucine in the cerebrospinal fluid HP:0500189 IAO:0000115 nl Any deviation from the normal concentration of leucine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation HP:0031886 IAO:0000115 nl Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of lysine in the blood circulation HP:0010908 IAO:0000115 nl Any deviation from the normal concentration of lysine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of lysine in the cerebrospinal fluid HP:0500206 IAO:0000115 nl Any deviation from the normal concentration of lysine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of mannose-binding protein in the blood circulation HP:0032304 IAO:0000115 nl Any deviation from the normal concentration of mannose-binding protein in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of methionine in the blood circulation HP:0010901 IAO:0000115 nl Any deviation from the normal concentration of methionine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of methionine in the cerebrospinal fluid HP:0500209 IAO:0000115 nl Any deviation from the normal concentration of methionine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of neopterin in the blood circulation HP:0040206 IAO:0000115 nl Any deviation from the normal concentration of neopterin in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of nicotinurate in the blood HP:0410205 IAO:0000115 nl Any deviation from the normal concentration of nicotinurate in the blood NOT_TRANSLATED +en Any deviation from the normal concentration of ornithine in the cerebrospinal fluid HP:0500243 IAO:0000115 nl Any deviation from the normal concentration of ornithine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of phenylalanine in the blood circulation HP:0010893 IAO:0000115 nl Any deviation from the normal concentration of phenylalanine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid HP:0500215 IAO:0000115 nl Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of phytanic acid in the blood circulation HP:0010965 IAO:0000115 nl Any deviation from the normal concentration of phytanic acid in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation HP:0010907 IAO:0000115 nl Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of protein in the bronchoalveolar fluid HP:0032975 IAO:0000115 nl Any deviation from the normal concentration of protein in the bronchoalveolar fluid NOT_TRANSLATED +en Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid HP:0500231 IAO:0000115 nl Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of serine in the blood circulation HP:0012278 IAO:0000115 nl Any deviation from the normal concentration of serine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of serine in the cerebrospinal fluid HP:0500226 IAO:0000115 nl Any deviation from the normal concentration of serine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid HP:0500225 IAO:0000115 nl Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm HP:0032419 IAO:0000115 nl Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm NOT_TRANSLATED +en Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm HP:0032422 IAO:0000115 nl Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm NOT_TRANSLATED +en Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm HP:0032425 IAO:0000115 nl Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm NOT_TRANSLATED +en Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm HP:0032426 IAO:0000115 nl Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm NOT_TRANSLATED +en Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm HP:0032427 IAO:0000115 nl Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm NOT_TRANSLATED +en Any deviation from the normal concentration of threonine in the blood circulation HP:0010900 IAO:0000115 nl Any deviation from the normal concentration of threonine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of threonine in the cerebrospinal fluid HP:0500211 IAO:0000115 nl Any deviation from the normal concentration of threonine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of transferrin in the blood circulation HP:0032385 IAO:0000115 nl Any deviation from the normal concentration of transferrin in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of tryptophan in the blood circulation HP:0004365 IAO:0000115 nl Any deviation from the normal concentration of tryptophan in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid HP:0500218 IAO:0000115 nl Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of tyrosine in the blood circulation HP:0010917 IAO:0000115 nl Any deviation from the normal concentration of tyrosine in the blood circulation NOT_TRANSLATED +en Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid HP:0500219 IAO:0000115 nl Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of urea nitrogen in the blood HP:0031970 IAO:0000115 nl Any deviation from the normal concentration of urea nitrogen in the blood NOT_TRANSLATED +en Any deviation from the normal concentration of valine in the cerebrospinal fluid HP:0500186 IAO:0000115 nl Any deviation from the normal concentration of valine in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood HP:0031889 IAO:0000115 nl Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood NOT_TRANSLATED +en Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen) HP:0031142 IAO:0000115 nl Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen) NOT_TRANSLATED +en Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization HP:0033566 IAO:0000115 nl Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization NOT_TRANSLATED +en Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful HP:0032367 IAO:0000115 nl Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful NOT_TRANSLATED +en Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues HP:0034444 IAO:0000115 nl Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues NOT_TRANSLATED +en Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate HP:0032459 IAO:0000115 nl Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate NOT_TRANSLATED +en Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object HP:0000549 IAO:0000115 nl Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object NOT_TRANSLATED +en Any deviation from the normal number of basophils per volume in the blood circulation HP:0031806 IAO:0000115 nl Any deviation from the normal number of basophils per volume in the blood circulation NOT_TRANSLATED +en Any deviation from the normal number of eosinophils per volume in the blood circulation HP:0020064 IAO:0000115 nl Any deviation from the normal number of eosinophils per volume in the blood circulation NOT_TRANSLATED +en Any deviation from the normal number of red blood cells per volume in the circulation HP:0020058 IAO:0000115 nl Any deviation from the normal number of red blood cells per volume in the circulation NOT_TRANSLATED +en Any deviation from the normal ocular alignment HP:0500073 IAO:0000115 nl Any deviation from the normal ocular alignment NOT_TRANSLATED +en Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes HP:0040089 IAO:0000115 nl Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes NOT_TRANSLATED +en Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline HP:0032488 IAO:0000115 nl Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline NOT_TRANSLATED +en Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose HP:0031416 IAO:0000115 nl Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose NOT_TRANSLATED +en Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O HP:0033372 IAO:0000115 nl Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O NOT_TRANSLATED +en Any deviation from the normal range of a protein concentration in the cerebrospinal fluid HP:0025456 IAO:0000115 nl Any deviation from the normal range of a protein concentration in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers HP:0033170 IAO:0000115 nl Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers NOT_TRANSLATED +en Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid HP:0025454 IAO:0000115 nl Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid NOT_TRANSLATED +en Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole) HP:0033754 IAO:0000115 nl Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole) NOT_TRANSLATED +en Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases HP:0031101 IAO:0000115 nl Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases NOT_TRANSLATED +en Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation HP:0034162 IAO:0000115 nl Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation NOT_TRANSLATED +en Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation HP:0034176 IAO:0000115 nl Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation NOT_TRANSLATED +en Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation HP:0034164 IAO:0000115 nl Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation NOT_TRANSLATED +en Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation HP:0034167 IAO:0000115 nl Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation NOT_TRANSLATED +en Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation HP:0034170 IAO:0000115 nl Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation NOT_TRANSLATED +en Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation HP:0034173 IAO:0000115 nl Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation NOT_TRANSLATED +en Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation HP:0034160 IAO:0000115 nl Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation NOT_TRANSLATED +en Any deviation from the normal range of the hormones produced by the thyroid gland HP:0031508 IAO:0000115 nl Any deviation from the normal range of the hormones produced by the thyroid gland NOT_TRANSLATED +en Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers HP:0033171 IAO:0000115 nl Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers NOT_TRANSLATED +en Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine HP:0033502 IAO:0000115 nl Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine NOT_TRANSLATED +en Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration HP:0034448 IAO:0000115 nl Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration NOT_TRANSLATED +en Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography HP:0033772 IAO:0000115 nl Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography NOT_TRANSLATED +en Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood HP:0031850 IAO:0000115 nl Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood NOT_TRANSLATED +en Any deviation from the normal sexual drive or desire for sexual activity HP:0031845 IAO:0000115 nl Any deviation from the normal sexual drive or desire for sexual activity NOT_TRANSLATED +en Any deviation from the normal total hemolytic complement activity in the circulation HP:0031904 IAO:0000115 nl Any deviation from the normal total hemolytic complement activity in the circulation NOT_TRANSLATED +en Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added HP:0033212 IAO:0000115 nl Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added NOT_TRANSLATED +en Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area HP:0033529 IAO:0000115 nl Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area NOT_TRANSLATED +en Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration HP:0031961 IAO:0000115 nl Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration NOT_TRANSLATED +en Any deviation of the concentration of ceruloplasmin in the blood from the normal range HP:0033144 IAO:0000115 nl Any deviation of the concentration of ceruloplasmin in the blood from the normal range NOT_TRANSLATED +en Any deviation of the concentration of one or more proteins in the urine HP:0020129 IAO:0000115 nl Any deviation of the concentration of one or more proteins in the urine NOT_TRANSLATED +en Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age HP:0032894 IAO:0000115 nl Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age NOT_TRANSLATED +en Any functional abnormality of a cardiac valve HP:0031653 IAO:0000115 nl Any functional abnormality of a cardiac valve NOT_TRANSLATED +en Any functional abnormality of erythrocytes (red-blood cells) HP:0020054 IAO:0000115 nl Any functional abnormality of erythrocytes (red-blood cells) NOT_TRANSLATED +en Any functional abnormality of the eyelid HP:0031879 IAO:0000115 nl Any functional abnormality of the eyelid NOT_TRANSLATED +en Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord HP:0032120 IAO:0000115 nl Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord NOT_TRANSLATED +en Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis HP:0031871 IAO:0000115 nl Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis NOT_TRANSLATED +en Any functional anomaly of the ear HP:0031704 IAO:0000115 nl Any functional anomaly of the ear NOT_TRANSLATED +en Any functional anomaly of the fetus HP:0034059 IAO:0000115 nl Any functional anomaly of the fetus NOT_TRANSLATED +en Any functional anomaly of the liver HP:0031865 IAO:0000115 nl Any functional anomaly of the liver NOT_TRANSLATED +en Any functional anomaly of the mitral valve HP:0031481 IAO:0000115 nl Any functional anomaly of the mitral valve NOT_TRANSLATED +en Any functional anomaly of the neck region HP:0025669 IAO:0000115 nl Any functional anomaly of the neck region NOT_TRANSLATED +en Any functional anomaly of the pumonary valve HP:0031654 IAO:0000115 nl Any functional anomaly of the pumonary valve NOT_TRANSLATED +en Any functional anomaly of the respiratory motile cilia HP:0012261 IAO:0000115 nl Any functional anomaly of the respiratory motile cilia NOT_TRANSLATED +en Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands HP:0025276 IAO:0000115 nl Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands NOT_TRANSLATED +en Any functional anomaly of the tongue HP:0030810 IAO:0000115 nl Any functional anomaly of the tongue NOT_TRANSLATED +en Any functional anomaly of the vocal cord HP:0031801 IAO:0000115 nl Any functional anomaly of the vocal cord NOT_TRANSLATED +en Any functional defect of the mitral or tricuspid valve HP:0031650 IAO:0000115 nl Any functional defect of the mitral or tricuspid valve NOT_TRANSLATED +en Any functional defect of the tricuspid valve HP:0031651 IAO:0000115 nl Any functional defect of the tricuspid valve NOT_TRANSLATED +en Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine HP:0005579 IAO:0000115 nl Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine NOT_TRANSLATED +en Any increased amount from normal of valine in the cerebrospinal fluid HP:0500187 IAO:0000115 nl Any increased amount from normal of valine in the cerebrospinal fluid NOT_TRANSLATED +en Any manifestation of a skin disease associated with the production of pus HP:0000999 IAO:0000115 nl Any manifestation of a skin disease associated with the production of pus NOT_TRANSLATED +en Any morphological abnormality of cartilage HP:0002763 IAO:0000115 nl Any morphological abnormality of cartilage NOT_TRANSLATED +en Any morphological abnormality of the cervical vertebral column HP:0046508 IAO:0000115 nl Any morphological abnormality of the cervical vertebral column NOT_TRANSLATED +en Any morphological abnormality of the skin HP:0011121 IAO:0000115 nl Any morphological abnormality of the skin NOT_TRANSLATED +en Any neoplasm composed of fibrous tissue HP:0012316 IAO:0000115 nl Any neoplasm composed of fibrous tissue NOT_TRANSLATED +en Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality HP:0000488 IAO:0000115 nl Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality NOT_TRANSLATED +en Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009845 IAO:0000115 nl Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems HP:0032223 IAO:0000115 nl Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems NOT_TRANSLATED +en Any physiological abnormality of the esophagus HP:0025270 IAO:0000115 nl Any physiological abnormality of the esophagus NOT_TRANSLATED +en Any structural abnormality of a bronchial artery HP:0033388 IAO:0000115 nl Any structural abnormality of a bronchial artery NOT_TRANSLATED +en Any structural abnormality of a cardiac atrium HP:0005120 IAO:0000115 nl Any structural abnormality of a cardiac atrium NOT_TRANSLATED +en Any structural abnormality of a cardiac valve HP:0001654 IAO:0000115 nl Any structural abnormality of a cardiac valve NOT_TRANSLATED +en Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx HP:3000038 IAO:0000115 nl Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx NOT_TRANSLATED +en Any structural abnormality of a facial artery, one of the branches of the external carotid artery HP:3000024 IAO:0000115 nl Any structural abnormality of a facial artery, one of the branches of the external carotid artery NOT_TRANSLATED +en Any structural abnormality of a jugular vein HP:3000042 IAO:0000115 nl Any structural abnormality of a jugular vein NOT_TRANSLATED +en Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway HP:3000067 IAO:0000115 nl Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway NOT_TRANSLATED +en Any structural abnormality of a lingual artery HP:3000074 IAO:0000115 nl Any structural abnormality of a lingual artery NOT_TRANSLATED +en Any structural abnormality of alveolar type 2 (ATII) cells HP:0033245 IAO:0000115 nl Any structural abnormality of alveolar type 2 (ATII) cells NOT_TRANSLATED +en Any structural abnormality of erythrocytes (red-blood cells) HP:0001877 IAO:0000115 nl Any structural abnormality of erythrocytes (red-blood cells) NOT_TRANSLATED +en Any structural abnormality of the abducens nerve HP:0011348 IAO:0000115 nl Een afwijking van de nervus abducens CANDIDATE +en Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches HP:0005344 IAO:0000115 nl Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches NOT_TRANSLATED +en Any structural abnormality of the caudate nucleus HP:0002339 IAO:0000115 nl Any structural abnormality of the caudate nucleus NOT_TRANSLATED +en Any structural abnormality of the cerebellum HP:0001317 IAO:0000115 nl Any structural abnormality of the cerebellum NOT_TRANSLATED +en Any structural abnormality of the cerebral cortex HP:0002538 IAO:0000115 nl Any structural abnormality of the cerebral cortex NOT_TRANSLATED +en Any structural abnormality of the cerebral ventricles HP:0002118 IAO:0000115 nl Any structural abnormality of the cerebral ventricles NOT_TRANSLATED +en Any structural abnormality of the choroid HP:0000610 IAO:0000115 nl Any structural abnormality of the choroid NOT_TRANSLATED +en Any structural abnormality of the coccyx HP:0008519 IAO:0000115 nl Any structural abnormality of the coccyx NOT_TRANSLATED +en Any structural abnormality of the coronary arteries HP:0006704 IAO:0000115 nl Any structural abnormality of the coronary arteries NOT_TRANSLATED +en Any structural abnormality of the fundus of the eye HP:0001098 IAO:0000115 nl Any structural abnormality of the fundus of the eye NOT_TRANSLATED +en Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra HP:3000052 IAO:0000115 nl Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra NOT_TRANSLATED +en Any structural abnormality of the intervertebral disk HP:0005108 IAO:0000115 nl Any structural abnormality of the intervertebral disk NOT_TRANSLATED +en Any structural abnormality of the left atrium HP:0025579 IAO:0000115 nl Any structural abnormality of the left atrium NOT_TRANSLATED +en Any structural abnormality of the left ventricle of the heart HP:0001711 IAO:0000115 nl Any structural abnormality of the left ventricle of the heart NOT_TRANSLATED +en Any structural abnormality of the lumbar vertebral column HP:0100712 IAO:0000115 nl Any structural abnormality of the lumbar vertebral column NOT_TRANSLATED +en Any structural abnormality of the medulla of the kidney HP:0100957 IAO:0000115 nl Any structural abnormality of the medulla of the kidney NOT_TRANSLATED +en Any structural abnormality of the olecranon, a bony eminence of the proximal ulna HP:0004032 IAO:0000115 nl Any structural abnormality of the olecranon, a bony eminence of the proximal ulna NOT_TRANSLATED +en Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole HP:0033223 IAO:0000115 nl Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole NOT_TRANSLATED +en Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis HP:0004039 IAO:0000115 nl Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis NOT_TRANSLATED +en Any structural abnormality of the pulmonary valve HP:0001641 IAO:0000115 nl Any structural abnormality of the pulmonary valve NOT_TRANSLATED +en Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts HP:0002062 IAO:0000115 nl Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts NOT_TRANSLATED +en Any structural abnormality of the renal artery HP:0008776 IAO:0000115 nl Any structural abnormality of the renal artery NOT_TRANSLATED +en Any structural abnormality of the right atrium HP:0025580 IAO:0000115 nl Any structural abnormality of the right atrium NOT_TRANSLATED +en Any structural abnormality of the sweat gland HP:0000971 IAO:0000115 nl Any structural abnormality of the sweat gland NOT_TRANSLATED +en Any structural abnormality of the telencephalon, which is also known as the cerebrum HP:0002060 IAO:0000115 nl Any structural abnormality of the telencephalon, which is also known as the cerebrum NOT_TRANSLATED +en Any structural abnormality of the vagina HP:0000142 IAO:0000115 nl Een afwijking van de vagina CANDIDATE +en Any structural abnormality or abnormal count of basophils HP:0001912 IAO:0000115 nl Any structural abnormality or abnormal count of basophils NOT_TRANSLATED +en Any structural abnormality or abnormal count of granulocytes HP:0001911 IAO:0000115 nl Any structural abnormality or abnormal count of granulocytes NOT_TRANSLATED +en Any structural abormality of the fifth cranial nerve HP:0010824 IAO:0000115 nl Een afwijking van de vijfde hersenzenuw CANDIDATE +en Any structural anomaly in the areas surrounding the hair follicles HP:0031285 IAO:0000115 nl Any structural anomaly in the areas surrounding the hair follicles NOT_TRANSLATED +en Any structural anomaly located between the pleura and the chest wall HP:0031630 IAO:0000115 nl Any structural anomaly located between the pleura and the chest wall NOT_TRANSLATED +en Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney HP:0033879 IAO:0000115 nl Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED +en Any structural anomaly located in the inner or middle layer of the arterioles of the kidney HP:0033892 IAO:0000115 nl Any structural anomaly located in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED +en Any structural anomaly located in the the inside space of the interlobular veins of the kidney HP:0033855 IAO:0000115 nl Any structural anomaly located in the the inside space of the interlobular veins of the kidney NOT_TRANSLATED +en Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein) HP:0033353 IAO:0000115 nl Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein) NOT_TRANSLATED +en Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage HP:0020047 IAO:0000115 nl Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage NOT_TRANSLATED +en Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery HP:0009145 IAO:0000115 nl Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery NOT_TRANSLATED +en Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order HP:0031411 IAO:0000115 nl Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order NOT_TRANSLATED +en Any structural anomaly of a great auricular nerve HP:3000048 IAO:0000115 nl Any structural anomaly of a great auricular nerve NOT_TRANSLATED +en Any structural anomaly of a lingual nerve HP:3000075 IAO:0000115 nl Any structural anomaly of a lingual nerve NOT_TRANSLATED +en Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells HP:0012144 IAO:0000115 nl Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells NOT_TRANSLATED +en Any structural anomaly of a reproductive cell HP:0012862 IAO:0000115 nl Any structural anomaly of a reproductive cell NOT_TRANSLATED +en Any structural anomaly of an inner ear epithelium HP:3000002 IAO:0000115 nl Any structural anomaly of an inner ear epithelium NOT_TRANSLATED +en Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue HP:0031331 IAO:0000115 nl Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue NOT_TRANSLATED +en Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation HP:0100494 IAO:0000115 nl Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation NOT_TRANSLATED +en Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells HP:0012143 IAO:0000115 nl Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells NOT_TRANSLATED +en Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached HP:0020202 IAO:0000115 nl Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached NOT_TRANSLATED +en Any structural anomaly of the acrosome resulting in a round sperm head HP:0012205 IAO:0000115 nl Any structural anomaly of the acrosome resulting in a round sperm head NOT_TRANSLATED +en Any structural anomaly of the adrenal glands HP:0011732 IAO:0000115 nl Any structural anomaly of the adrenal glands NOT_TRANSLATED +en Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach HP:0031478 IAO:0000115 nl Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach NOT_TRANSLATED +en Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach HP:0031441 IAO:0000115 nl Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach NOT_TRANSLATED +en Any structural anomaly of the aortic valve leaflets HP:0031567 IAO:0000115 nl Any structural anomaly of the aortic valve leaflets NOT_TRANSLATED +en Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla) HP:0033853 IAO:0000115 nl Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla) NOT_TRANSLATED +en Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage HP:0410042 IAO:0000115 nl Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage NOT_TRANSLATED +en Any structural anomaly of the bladder HP:0025487 IAO:0000115 nl Any structural anomaly of the bladder NOT_TRANSLATED +en Any structural anomaly of the blood vessels of the macula HP:0030495 IAO:0000115 nl Any structural anomaly of the blood vessels of the macula NOT_TRANSLATED +en Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape HP:0008544 IAO:0000115 nl Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape NOT_TRANSLATED +en Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs HP:0025426 IAO:0000115 nl Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs NOT_TRANSLATED +en Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells) HP:0031476 IAO:0000115 nl Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells) NOT_TRANSLATED +en Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root) HP:0100717 IAO:0000115 nl Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root) NOT_TRANSLATED +en Any structural anomaly of the central compartment of the thoracic cavity HP:0045026 IAO:0000115 nl Any structural anomaly of the central compartment of the thoracic cavity NOT_TRANSLATED +en Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve HP:0031442 IAO:0000115 nl Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve NOT_TRANSLATED +en Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity HP:0011862 IAO:0000115 nl Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity NOT_TRANSLATED +en Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae) HP:0031938 IAO:0000115 nl Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae) NOT_TRANSLATED +en Any structural anomaly of the cortex of the cerebellum HP:0031422 IAO:0000115 nl Any structural anomaly of the cortex of the cerebellum NOT_TRANSLATED +en Any structural anomaly of the ear HP:0031703 IAO:0000115 nl Any structural anomaly of the ear NOT_TRANSLATED +en Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils HP:0025082 IAO:0000115 nl Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils NOT_TRANSLATED +en Any structural anomaly of the fetal part of the placenta, which is known as the chorion HP:0033042 IAO:0000115 nl Any structural anomaly of the fetal part of the placenta, which is known as the chorion NOT_TRANSLATED +en Any structural anomaly of the fetus HP:0034058 IAO:0000115 nl Any structural anomaly of the fetus NOT_TRANSLATED +en Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents HP:0033889 IAO:0000115 nl Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents NOT_TRANSLATED +en Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix HP:0033232 IAO:0000115 nl Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix NOT_TRANSLATED +en Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX) HP:3000047 IAO:0000115 nl Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX) NOT_TRANSLATED +en Any structural anomaly of the hand HP:0005922 IAO:0000115 nl Any structural anomaly of the hand NOT_TRANSLATED +en Any structural anomaly of the heart HP:0001627 IAO:0000115 nl Any structural anomaly of the heart NOT_TRANSLATED +en Any structural anomaly of the heart and great vessels HP:0030680 IAO:0000115 nl Any structural anomaly of the heart and great vessels NOT_TRANSLATED +en Any structural anomaly of the hippocampus, HP:0025100 IAO:0000115 nl Any structural anomaly of the hippocampus, NOT_TRANSLATED +en Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) HP:0410043 IAO:0000115 nl Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord) NOT_TRANSLATED +en Any structural anomaly of the hypothalamus HP:0012286 IAO:0000115 nl Any structural anomaly of the hypothalamus NOT_TRANSLATED +en Any structural anomaly of the iliac artery HP:4000066 IAO:0000115 nl Any structural anomaly of the iliac artery NOT_TRANSLATED +en Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney HP:0033888 IAO:0000115 nl Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney NOT_TRANSLATED +en Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney HP:0033963 IAO:0000115 nl Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney NOT_TRANSLATED +en Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct) HP:0033854 IAO:0000115 nl Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct) NOT_TRANSLATED +en Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid HP:0032581 IAO:0000115 nl Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid NOT_TRANSLATED +en Any structural anomaly of the kidney HP:0012210 IAO:0000115 nl Any structural anomaly of the kidney NOT_TRANSLATED +en Any structural anomaly of the leaflets (also known as cusps) of the mitral valve HP:0031480 IAO:0000115 nl Any structural anomaly of the leaflets (also known as cusps) of the mitral valve NOT_TRANSLATED +en Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve HP:0031443 IAO:0000115 nl Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve NOT_TRANSLATED +en Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex] HP:0007343 IAO:0000115 nl Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex] NOT_TRANSLATED +en Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney HP:0033901 IAO:0000115 nl Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney NOT_TRANSLATED +en Any structural anomaly of the lining (endothelium) of the arterioles of the kidney HP:0033895 IAO:0000115 nl Any structural anomaly of the lining (endothelium) of the arterioles of the kidney NOT_TRANSLATED +en Any structural anomaly of the lower motor neuron HP:0002366 IAO:0000115 nl Any structural anomaly of the lower motor neuron NOT_TRANSLATED +en Any structural anomaly of the lung HP:0002088 IAO:0000115 nl Any structural anomaly of the lung NOT_TRANSLATED +en Any structural anomaly of the mitochondria HP:0008322 IAO:0000115 nl Any structural anomaly of the mitochondria NOT_TRANSLATED +en Any structural anomaly of the mitral valve HP:0001633 IAO:0000115 nl Any structural anomaly of the mitral valve NOT_TRANSLATED +en Any structural anomaly of the mouth, which is also known as the oral cavity HP:0031816 IAO:0000115 nl Any structural anomaly of the mouth, which is also known as the oral cavity NOT_TRANSLATED +en Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae) HP:0031192 IAO:0000115 nl Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED +en Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae) HP:0030681 IAO:0000115 nl Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED +en Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae) HP:0031193 IAO:0000115 nl Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae) NOT_TRANSLATED +en Any structural anomaly of the neck region HP:0025668 IAO:0000115 nl Any structural anomaly of the neck region NOT_TRANSLATED +en Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum HP:0030992 IAO:0000115 nl Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum NOT_TRANSLATED +en Any structural anomaly of the papillary muscles of the left ventricle HP:0025445 IAO:0000115 nl Any structural anomaly of the papillary muscles of the left ventricle NOT_TRANSLATED +en Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary HP:0031265 IAO:0000115 nl Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary NOT_TRANSLATED +en Any structural anomaly of the portal artery HP:4000147 IAO:0000115 nl Any structural anomaly of the portal artery NOT_TRANSLATED +en Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins HP:0031941 IAO:0000115 nl Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins NOT_TRANSLATED +en Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise HP:0031784 IAO:0000115 nl Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise NOT_TRANSLATED +en Any structural anomaly of the posterior circulating artery (PCOM) HP:0031772 IAO:0000115 nl Any structural anomaly of the posterior circulating artery (PCOM) NOT_TRANSLATED +en Any structural anomaly of the principal vein draining blood from the lower portion of the body HP:0025576 IAO:0000115 nl Any structural anomaly of the principal vein draining blood from the lower portion of the body NOT_TRANSLATED +en Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart HP:0025575 IAO:0000115 nl Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart NOT_TRANSLATED +en Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi HP:0012253 IAO:0000115 nl Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi NOT_TRANSLATED +en Any structural anomaly of the pulmonary valve leaflets HP:0031566 IAO:0000115 nl Any structural anomaly of the pulmonary valve leaflets NOT_TRANSLATED +en Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum HP:0031982 IAO:0000115 nl Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum NOT_TRANSLATED +en Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney HP:0033883 IAO:0000115 nl Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney NOT_TRANSLATED +en Any structural anomaly of the radial artery HP:0031640 IAO:0000115 nl Any structural anomaly of the radial artery NOT_TRANSLATED +en Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement HP:0033679 IAO:0000115 nl Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement NOT_TRANSLATED +en Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine HP:0032599 IAO:0000115 nl Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine NOT_TRANSLATED +en Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement) HP:0030999 IAO:0000115 nl Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement) NOT_TRANSLATED +en Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs HP:0020201 IAO:0000115 nl Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs NOT_TRANSLATED +en Any structural anomaly of the sebaceous glands HP:0032226 IAO:0000115 nl Any structural anomaly of the sebaceous glands NOT_TRANSLATED +en Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes HP:0025723 IAO:0000115 nl Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes NOT_TRANSLATED +en Any structural anomaly of the thoracic duct HP:0031278 IAO:0000115 nl Any structural anomaly of the thoracic duct NOT_TRANSLATED +en Any structural anomaly of the tongue HP:0030809 IAO:0000115 nl Any structural anomaly of the tongue NOT_TRANSLATED +en Any structural anomaly of the tricuspid valve HP:0001702 IAO:0000115 nl Any structural anomaly of the tricuspid valve NOT_TRANSLATED +en Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger HP:0040071 IAO:0000115 nl Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger NOT_TRANSLATED +en Any structural anomaly of the vitreous body HP:0004327 IAO:0000115 nl Any structural anomaly of the vitreous body NOT_TRANSLATED +en Any structural anomaly that affects the motor neuron HP:0002450 IAO:0000115 nl Any structural anomaly that affects the motor neuron NOT_TRANSLATED +en Any structural anomaly that affects the upper motor neuron HP:0002127 IAO:0000115 nl Any structural anomaly that affects the upper motor neuron NOT_TRANSLATED +en Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure HP:0032895 IAO:0000115 nl Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure NOT_TRANSLATED +en Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD HP:0011684 IAO:0000115 nl Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD NOT_TRANSLATED +en Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD HP:0011683 IAO:0000115 nl Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD NOT_TRANSLATED +en Aorta descends on right instead of on the left HP:0012020 IAO:0000115 nl Aorta descends on right instead of on the left NOT_TRANSLATED +en Aortic aneurysm HP:0004942 rdfs:label nl Aorta-aneurysma CANDIDATE +en Aortic annulus calcification HP:0033538 rdfs:label nl Aortic annulus calcification NOT_TRANSLATED +en Aortic arch aneurysm HP:0005113 rdfs:label nl Aortaboog aneurysma CANDIDATE +en Aortic arch calcification HP:0005303 rdfs:label nl Aortaboog verkalking CANDIDATE +en Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body HP:0011595 IAO:0000115 nl Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body NOT_TRANSLATED +en Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch HP:0011594 IAO:0000115 nl Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch NOT_TRANSLATED +en Aortic atherosclerotic lesion HP:0012397 rdfs:label nl Aorta atherosclerose CANDIDATE +en Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter HP:0004942 IAO:0000115 nl Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter NOT_TRANSLATED +en Aortic dissection HP:0002647 rdfs:label nl Aortadissectie CANDIDATE +en Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta HP:0002647 IAO:0000115 nl Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta NOT_TRANSLATED +en Aortic elastic fiber disorganization HP:0032085 rdfs:label nl Aortic elastic fiber disorganization NOT_TRANSLATED +en Aortic elastic fiber fragmentation HP:0032083 rdfs:label nl Aortic elastic fiber fragmentation NOT_TRANSLATED +en Aortic elastic fiber thinning HP:0032084 rdfs:label nl Aortic elastic fiber thinning NOT_TRANSLATED +en Aortic isthmus hypoplasia HP:0034227 rdfs:label nl Aortic isthmus hypoplasia NOT_TRANSLATED +en Aortic laminar medial collapse HP:0032087 rdfs:label nl Aortic laminar medial collapse NOT_TRANSLATED +en Aortic medial fibrosis HP:0032089 rdfs:label nl Aortic medial fibrosis NOT_TRANSLATED +en Aortic regurgitation HP:0001659 rdfs:label nl Aorta-insufficiëntie CANDIDATE +en Aortic root aneurysm HP:0002616 rdfs:label nl Aneurysma van de aorta wortel CANDIDATE +en Aortic rupture HP:0031649 rdfs:label nl Aorta ruptuur CANDIDATE +en Aortic smooth muscle cell disorganization HP:0032088 rdfs:label nl Aortic smooth muscle cell disorganization NOT_TRANSLATED +en Aortic smooth muscle cell nuclei loss HP:0032086 rdfs:label nl Aortic smooth muscle cell nuclei loss NOT_TRANSLATED +en Aortic stiffness HP:0030965 rdfs:label nl Stijfheid van aorta CANDIDATE +en Aortic tortuosity HP:0006687 rdfs:label nl Tortuositeit van aorta CANDIDATE +en Aortic valve atresia HP:0010883 rdfs:label nl Aortaklep atresie CANDIDATE +en Aortic valve calcification HP:0004380 rdfs:label nl Aortaklep calcificatie CANDIDATE +en Aortic valve leaflet calcification HP:0033641 rdfs:label nl Aortic valve leaflet calcification NOT_TRANSLATED +en Aortic valve prolapse HP:0025578 rdfs:label nl Aortaklepprolaps CANDIDATE +en Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus HP:0025578 IAO:0000115 nl Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus NOT_TRANSLATED +en Aortic valve stenosis HP:0001650 rdfs:label nl Aortaklepstenose CANDIDATE +en Aorto-left ventricular tunnel HP:0031932 rdfs:label nl Aorto-left ventricular tunnel NOT_TRANSLATED +en Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity HP:0031932 IAO:0000115 nl Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity NOT_TRANSLATED +en Aorto-right ventricular tunnel HP:0031933 rdfs:label nl Aorto-right ventricular tunnel NOT_TRANSLATED +en Aorto-ventricular tunnel HP:0011627 rdfs:label nl Aorto-ventriculaire tunnel CANDIDATE +en Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle HP:0011627 IAO:0000115 nl Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle NOT_TRANSLATED +en Aortopulmonary collateral arteries HP:0031834 rdfs:label nl Aortopulmonary collateral arteries NOT_TRANSLATED +en Aortopulmonary window HP:0011604 rdfs:label nl Aortopulmonale venster CANDIDATE +en Apathy HP:0000741 rdfs:label nl Apathie CANDIDATE +en Aphalangy of hands and feet HP:0200113 rdfs:label nl Afalangie van handen en voeten CANDIDATE +en Aphalangy of the hands HP:0005886 rdfs:label nl Afalangie van de handen CANDIDATE +en Aphasia HP:0002381 rdfs:label nl Afasie CANDIDATE +en Aphasic status epilepticus HP:0032849 rdfs:label nl Aphasic status epilepticus NOT_TRANSLATED +en Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit HP:0032849 IAO:0000115 nl Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit NOT_TRANSLATED +en Aphthous ulcer HP:0032154 rdfs:label nl Aphthous ulcer NOT_TRANSLATED +en Apical HP:0033820 rdfs:label nl Apical NOT_TRANSLATED +en Apical hypertrabeculation of the left ventricle HP:0031195 rdfs:label nl Apicale hypertrabeculatie van de linkerventrikel CANDIDATE +en Apical hypertrophic cardiomyopathy HP:0031992 rdfs:label nl Apical hypertrophic cardiomyopathy NOT_TRANSLATED +en Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity HP:0031992 IAO:0000115 nl Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity NOT_TRANSLATED +en Apical muscular ventricular septal defect HP:0011624 rdfs:label nl Apicaal musculair ventrikelseptumdefect CANDIDATE +en Apical pulmonary opacity HP:0032176 rdfs:label nl Apical pulmonary opacity NOT_TRANSLATED +en Apically displaced anterolateral papillary muscle HP:0025449 rdfs:label nl Apicale verplaatsing van de papillairspieren CANDIDATE +en Aplasia (absence) of the distal phalanges HP:0005807 IAO:0000115 nl Aplasia (absence) of the distal phalanges NOT_TRANSLATED +en Aplasia (absence) of the lymphatic vessels HP:0045006 IAO:0000115 nl Aplasia (absence) of the lymphatic vessels NOT_TRANSLATED +en Aplasia (absence) of the urinary bladder HP:0010477 IAO:0000115 nl Aplasia (absence) of the urinary bladder NOT_TRANSLATED +en Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell HP:0020128 IAO:0000115 nl Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell NOT_TRANSLATED +en Aplasia (congenital absence) of the pectoralis minor HP:0005255 IAO:0000115 nl Aplasia (congenital absence) of the pectoralis minor NOT_TRANSLATED +en Aplasia (congenital absence) of the pectoralis minor on only one side of the chest HP:0005256 IAO:0000115 nl Aplasia (congenital absence) of the pectoralis minor on only one side of the chest NOT_TRANSLATED +en Aplasia (congenital absence) of the vas deferens HP:0012873 IAO:0000115 nl Aplasia (congenital absence) of the vas deferens NOT_TRANSLATED +en Aplasia cutis congenita HP:0001057 rdfs:label nl Aplasia cutis congenita CANDIDATE +en Aplasia cutis congenita of midline scalp vertex HP:0007536 rdfs:label nl Aplasia cutis congenita of midline scalp vertex NOT_TRANSLATED +en Aplasia cutis congenita of scalp HP:0007385 rdfs:label nl Aplasia cutis congenita van hoofdhuid CANDIDATE +en Aplasia cutis congenita on trunk or limbs HP:0007589 rdfs:label nl Aplasia cutis congenita op romp of ledematen CANDIDATE +en Aplasia cutis congenita over parietal area HP:0004476 rdfs:label nl Aplasia cutis congenita over pariëtale gebied CANDIDATE +en Aplasia cutis congenita over posterior parietal area HP:0007590 rdfs:label nl Aplasia cutis congenita over posterieur pariëtaal gebied CANDIDATE +en Aplasia cutis congenita over the scalp vertex HP:0004471 rdfs:label nl Aplasia cutis congenita over the scalp vertex NOT_TRANSLATED +en Aplasia involving bones of the extremities HP:0009825 rdfs:label nl Aplasie waarbij de botten van de extremiteiten betrokken zijn CANDIDATE +en Aplasia involving bones of the lower limbs HP:0009817 rdfs:label nl Aplasie waarbij de botten van onderste ledematen betrokken zijn CANDIDATE +en Aplasia involving bones of the upper limbs HP:0009823 rdfs:label nl Aplasie waarbij de botten van bovenste ledematen betrokken zijn CANDIDATE +en Aplasia involving forearm bones HP:0009822 rdfs:label nl Aplasia waarbij botten van onderarm betrokken zijn CANDIDATE +en Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues HP:0010760 IAO:0000115 nl Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues NOT_TRANSLATED +en Aplasia of facial bones HP:0040008 rdfs:label nl Aplasie van faciale botten CANDIDATE +en Aplasia of frontal sinus HP:0002688 IAO:0000115 nl Aplasia of frontal sinus NOT_TRANSLATED +en Aplasia of lymphatic vessels HP:0045006 rdfs:label nl Aplasie van lymfevaten CANDIDATE +en Aplasia of metacarpal bones HP:0010048 rdfs:label nl Aplasie van metacarpale botten CANDIDATE +en Aplasia of one or more fingers HP:0009380 IAO:0000115 nl Aplasia of one or more fingers NOT_TRANSLATED +en Aplasia of the 1st metacarpal HP:0010035 rdfs:label nl Aplasie van de 1e metacarpaal CANDIDATE +en Aplasia of the 2nd finger HP:0009535 rdfs:label nl Aplasie van 2e vinger CANDIDATE +en Aplasia of the 2nd metacarpal HP:0010037 rdfs:label nl Aplasie van de 2e metacarpaal CANDIDATE +en Aplasia of the 3rd finger HP:0009460 rdfs:label nl Aplasie van 3e vinger CANDIDATE +en Aplasia of the 3rd metacarpal HP:0010040 rdfs:label nl Aplasie van de 3e metacarpaal CANDIDATE +en Aplasia of the 4th finger HP:0009281 rdfs:label nl Aplasie van 4e vinger CANDIDATE +en Aplasia of the 4th metacarpal HP:0010043 rdfs:label nl Aplasie van de 4e metacarpaal CANDIDATE +en Aplasia of the 5th finger HP:0009238 rdfs:label nl Aplasie van 5e vinger CANDIDATE +en Aplasia of the 5th metacarpal HP:0010046 rdfs:label nl Aplasie van de 5e metacarpaal CANDIDATE +en Aplasia of the Eustachian tube HP:0040116 rdfs:label nl Aplasie van de buis van Eustachius CANDIDATE +en Aplasia of the abdominal wall musculature HP:0005199 rdfs:label nl Aplasie van de buikwand musculatuur CANDIDATE +en Aplasia of the bladder HP:0010477 rdfs:label nl Aplasie van de blaas CANDIDATE +en Aplasia of the distal phalanges of the hand HP:0009881 rdfs:label nl Aplasie van distale falangen van de hand CANDIDATE +en Aplasia of the distal phalanges of the toes HP:0010645 rdfs:label nl Aplasie van de distale falangen van de tenen CANDIDATE +en Aplasia of the distal phalanx of the 2nd finger HP:0009565 rdfs:label nl Aplasie van de distale falanx van de 2e vinger CANDIDATE +en Aplasia of the distal phalanx of the 3rd finger HP:0009429 rdfs:label nl Aplasie van de distale falanx van de 3e vinger CANDIDATE +en Aplasia of the distal phalanx of the 4th finger HP:0009291 rdfs:label nl Aplasie van de distale falanx van de 4e vinger CANDIDATE +en Aplasia of the distal phalanx of the 4th toe HP:0100379 rdfs:label nl Aplasie van de distale falanx van de 4e teen CANDIDATE +en Aplasia of the distal phalanx of the 5th finger HP:0009246 rdfs:label nl Aplasie van de distale falanx van de 5e vinger CANDIDATE +en Aplasia of the distal phalanx of the 5th toe HP:0100380 rdfs:label nl Aplasie van de distale falanx van de 5e teen CANDIDATE +en Aplasia of the distal phalanx of the hallux HP:0010102 rdfs:label nl Aplasie van de distale falanx van de hallux CANDIDATE +en Aplasia of the distal phalanx of the thumb HP:0009649 rdfs:label nl Aplasie van de distale falanx van de duim CANDIDATE +en Aplasia of the eccrine sweat glands HP:0040042 rdfs:label nl Aplasie van de eccriene zweetklieren CANDIDATE +en Aplasia of the epiglottis HP:0008753 rdfs:label nl Aplasie van de epiglottis CANDIDATE +en Aplasia of the fallopian tube HP:0032073 rdfs:label nl Aplasia of the fallopian tube NOT_TRANSLATED +en Aplasia of the falx cerebri HP:0010654 rdfs:label nl Aplasie van de falx cerebri CANDIDATE +en Aplasia of the femoral head HP:0100862 rdfs:label nl Aplasie van de femurkop CANDIDATE +en Aplasia of the femoral neck HP:0100863 rdfs:label nl Aplasie van het collum CANDIDATE +en Aplasia of the fingers HP:0009380 rdfs:label nl Aplasie van de vingers CANDIDATE +en Aplasia of the fovea HP:0011503 rdfs:label nl Aplasie van de fovea CANDIDATE +en Aplasia of the hallux, that is, a development defect such that the big toe does not develop HP:0012386 IAO:0000115 nl Aplasia of the hallux, that is, a development defect such that the big toe does not develop NOT_TRANSLATED +en Aplasia of the inferior half of the cerebellar vermis HP:0007063 rdfs:label nl Aplasie van lagere helft van vermis CANDIDATE +en Aplasia of the inner ear HP:0011372 rdfs:label nl Aplasie van het binnenoor CANDIDATE +en Aplasia of the internal auditory canal HP:0011385 IAO:0000115 nl Aplasia of the internal auditory canal NOT_TRANSLATED +en Aplasia of the left hemidiaphragm HP:0009112 rdfs:label nl Afwezig linker hemidiafragma CANDIDATE +en Aplasia of the lower vagina HP:0012674 rdfs:label nl Aplasie van het onderste deel van vagina CANDIDATE +en Aplasia of the malleus HP:0011455 IAO:0000115 nl Aplasia of the malleus NOT_TRANSLATED +en Aplasia of the maxilla HP:0010667 rdfs:label nl Aplasie van de maxilla CANDIDATE +en Aplasia of the middle ear ossicles HP:0009910 rdfs:label nl Aplasie van de middenoorbeentjes CANDIDATE +en Aplasia of the middle phalanges of the toes HP:0100387 rdfs:label nl Aplasie van de middelste falanx van de tenen CANDIDATE +en Aplasia of the middle phalanx of the 2nd toe HP:0010434 rdfs:label nl Aplasie van de middelste falanx van de 2e teen CANDIDATE +en Aplasia of the middle phalanx of the 4th toe HP:0100382 rdfs:label nl Aplasie van de middelste falanx van de 4e teen CANDIDATE +en Aplasia of the middle phalanx of the 5th toe HP:0100383 rdfs:label nl Aplasie van de middelste falanx van de 5e teen CANDIDATE +en Aplasia of the middle phalanx of the hand HP:0010239 rdfs:label nl Aplasie van de middelste falanx van de hand CANDIDATE +en Aplasia of the musculature HP:0100854 rdfs:label nl Aplasie van de musculatuur CANDIDATE +en Aplasia of the musculature of the pelvis HP:0500024 rdfs:label nl Aplasie van de musculatuur van het bekken CANDIDATE +en Aplasia of the nail HP:0001798 IAO:0000115 nl Aplasia of the nail NOT_TRANSLATED +en Aplasia of the nasal bone HP:0010941 rdfs:label nl Aplasie van het nasale bot CANDIDATE +en Aplasia of the nose HP:0009927 rdfs:label nl Aplasie van de neus CANDIDATE +en Aplasia of the olfactory bulb HP:0032466 rdfs:label nl Aplasia of the olfactory bulb NOT_TRANSLATED +en Aplasia of the olfactory tract HP:0020128 rdfs:label nl Aplasia of the olfactory tract NOT_TRANSLATED +en Aplasia of the optic tract HP:0010999 rdfs:label nl Aplasie van de tractus opticus CANDIDATE +en Aplasia of the ovary HP:0010463 rdfs:label nl Aplasie van het ovarium CANDIDATE +en Aplasia of the pancreas HP:0100801 IAO:0000115 nl Aplasia of the pancreas NOT_TRANSLATED +en Aplasia of the paranasal sinuses HP:0002689 IAO:0000115 nl Aplasia of the paranasal sinuses NOT_TRANSLATED +en Aplasia of the parathyroid gland HP:0008211 IAO:0000115 nl Aplasia of the parathyroid gland NOT_TRANSLATED +en Aplasia of the parotid gland HP:0009740 rdfs:label nl Aplasie van de glandula parotis CANDIDATE +en Aplasia of the pectoralis major muscle HP:0009751 rdfs:label nl Aplasie van pectoralis major CANDIDATE +en Aplasia of the phalanges of the 2nd toe HP:0010430 rdfs:label nl Aplasie van de falangen van de 2e teen CANDIDATE +en Aplasia of the phalanges of the 3rd toe HP:0100362 rdfs:label nl Aplasie van de falangen van de 3e teen CANDIDATE +en Aplasia of the phalanges of the 4th toe HP:0100363 rdfs:label nl Aplasie van de falangen van de 4e teen CANDIDATE +en Aplasia of the phalanges of the 5th toe HP:0100364 rdfs:label nl Aplasie van de falangen van de 5e teen CANDIDATE +en Aplasia of the phalanges of the hallux HP:0010110 rdfs:label nl Aplasie van de falangen van de hallux CANDIDATE +en Aplasia of the phalanges of the hand HP:0009802 rdfs:label nl Aplasie van de falangen van de hand CANDIDATE +en Aplasia of the phalanges of the toes HP:0010745 rdfs:label nl Aplasie van de falangen van de tenen CANDIDATE +en Aplasia of the premaxilla HP:0010757 rdfs:label nl Aplasie van de premaxilla CANDIDATE +en Aplasia of the proximal phalanges of the hand HP:0010242 rdfs:label nl Aplasie van proximale falangen van hand CANDIDATE +en Aplasia of the proximal phalanges of the toes HP:0100388 rdfs:label nl Aplasie van de proximale falanx van de tenen CANDIDATE +en Aplasia of the proximal phalanx of the 2nd finger HP:0009596 rdfs:label nl Aplasie van de proximale falanx van de 2e vinger CANDIDATE +en Aplasia of the proximal phalanx of the 2nd toe HP:0010436 rdfs:label nl Aplasie van de proximale falanx van de 2e teen CANDIDATE +en Aplasia of the proximal phalanx of the 3rd finger HP:0009458 rdfs:label nl Aplasie van de proximale falanx van de 3e vinger CANDIDATE +en Aplasia of the proximal phalanx of the 4th finger HP:0009298 rdfs:label nl Aplasie van de proximale falanx van de 4e vinger CANDIDATE +en Aplasia of the proximal phalanx of the 4th toe HP:0100385 rdfs:label nl Aplasie van de proximale falanx van de 4e teen CANDIDATE +en Aplasia of the proximal phalanx of the 5th finger HP:0009225 rdfs:label nl Aplasie van de proximale falanx van de 5e vinger CANDIDATE +en Aplasia of the proximal phalanx of the 5th toe HP:0100386 rdfs:label nl Aplasie van de proximale falanx van de 5e teen CANDIDATE +en Aplasia of the proximal phalanx of the hallux HP:0010106 rdfs:label nl Aplasie van de proximale falanx van de hallux CANDIDATE +en Aplasia of the pyramidal tract HP:0100322 rdfs:label nl Aplasie van de pyramidebaan CANDIDATE +en Aplasia of the retina HP:0010728 rdfs:label nl Aplasie van de retina CANDIDATE +en Aplasia of the right hemidiaphragm HP:0032592 rdfs:label nl Aplasia of the right hemidiaphragm NOT_TRANSLATED +en Aplasia of the semicircular canal HP:0011381 rdfs:label nl Aplasie van de semicirculaire kanaal CANDIDATE +en Aplasia of the stapes HP:0011456 IAO:0000115 nl Aplasia of the stapes NOT_TRANSLATED +en Aplasia of the sweat glands HP:0011136 rdfs:label nl Aplasie van de zweetklieren CANDIDATE +en Aplasia of the tarsal bones HP:0010509 rdfs:label nl Aplasie van de tarsale botten CANDIDATE +en Aplasia of the thymus HP:0005359 rdfs:label nl Aplasie van de thymus CANDIDATE +en Aplasia of the ulna HP:0003982 rdfs:label nl Aplasie van de ulna CANDIDATE +en Aplasia of the upper vagina HP:0012673 rdfs:label nl Aplasie van het bovenste deel van vagina CANDIDATE +en Aplasia of the uterus HP:0000151 IAO:0000115 nl Aplasie van de uterus CANDIDATE +en Aplasia of the uterus HP:0000151 rdfs:label nl Aplasie van de uterus CANDIDATE +en Aplasia of the vagina HP:0003250 IAO:0000115 nl Aplasia of the vagina NOT_TRANSLATED +en Aplasia of the vagina HP:0003250 rdfs:label nl Aplasie van de vagina CANDIDATE +en Aplasia of the vestibular nerve HP:0011393 rdfs:label nl Aplasie van de nervus vestibularis CANDIDATE +en Aplasia of the vestibule HP:0011377 rdfs:label nl Aplasie van het vestibulum CANDIDATE +en Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) HP:0010026 IAO:0000115 nl Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits) NOT_TRANSLATED +en Aplasia or Hypoplasia affecting the 2nd metacarpal HP:0010036 IAO:0000115 nl Aplasia or Hypoplasia affecting the 2nd metacarpal NOT_TRANSLATED +en Aplasia or Hypoplasia affecting the 3rd metacarpal HP:0010039 IAO:0000115 nl Aplasia or Hypoplasia affecting the 3rd metacarpal NOT_TRANSLATED +en Aplasia or Hypoplasia affecting the 4th metacarpal HP:0010042 IAO:0000115 nl Aplasia or Hypoplasia affecting the 4th metacarpal NOT_TRANSLATED +en Aplasia or Hypoplasia affecting the 5th metacarpal HP:0010045 IAO:0000115 nl Aplasia or Hypoplasia affecting the 5th metacarpal NOT_TRANSLATED +en Aplasia or Hypoplasia affecting the metacarpal bones HP:0005914 IAO:0000115 nl Aplasia or Hypoplasia affecting the metacarpal bones NOT_TRANSLATED +en Aplasia or developmental hypoplasia of all or part of the middle ear HP:0008773 IAO:0000115 nl Aplasia or developmental hypoplasia of all or part of the middle ear NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the cervical vertebral column HP:0011041 IAO:0000115 nl Aplasia or developmental hypoplasia of the cervical vertebral column NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the fallopian tube HP:0008655 IAO:0000115 nl Aplasia or developmental hypoplasia of the fallopian tube NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the inner ear HP:0008774 IAO:0000115 nl Aplasia or developmental hypoplasia of the inner ear NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the nail HP:0008386 IAO:0000115 nl Aplasia or developmental hypoplasia of the nail NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the ovary HP:0010462 IAO:0000115 nl Aplasia or developmental hypoplasia of the ovary NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the sacral bone HP:0008517 IAO:0000115 nl Aplasia or developmental hypoplasia of the sacral bone NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the tragus HP:0009913 IAO:0000115 nl Aplasia or developmental hypoplasia of the tragus NOT_TRANSLATED +en Aplasia or developmental hypoplasia of the vagina HP:0011026 IAO:0000115 nl Aplasia or developmental hypoplasia of the vagina NOT_TRANSLATED +en Aplasia or hypoplasia of the paranasal sinuses HP:0005453 IAO:0000115 nl Aplasia or hypoplasia of the paranasal sinuses NOT_TRANSLATED +en Aplasia, that is failure to develop, of the fallopian tube HP:0032073 IAO:0000115 nl Aplasia, that is failure to develop, of the fallopian tube NOT_TRANSLATED +en Aplasia, that is failure to develop, of the ovary HP:0010463 IAO:0000115 nl Aplasia, that is failure to develop, of the ovary NOT_TRANSLATED +en Aplasia/Hypoplasia affecting the anterior segment of the eye HP:0008062 rdfs:label nl Aplasia/Hypoplasie van het anterieure segment van het oog CANDIDATE +en Aplasia/Hypoplasia affecting the eye HP:0008056 rdfs:label nl Aplasia/Hypoplasie van het oog CANDIDATE +en Aplasia/Hypoplasia affecting the fundus HP:0008057 rdfs:label nl Aplasia/Hypoplasie van de fundus CANDIDATE +en Aplasia/Hypoplasia affecting the uvea HP:0008055 rdfs:label nl Aplasia/Hypoplasie van de uvea CANDIDATE +en Aplasia/Hypoplasia involving bones of the feet HP:0006494 rdfs:label nl Aplasia/hypoplasie waarbij botten van de voeten betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving bones of the skull HP:0009116 rdfs:label nl Aplasia/Hypoplasie waarbij botten van de schedel betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving bones of the thorax HP:0006711 rdfs:label nl Aplasia/Hypoplasie waarbij botten van de thorax betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving the carpal bones HP:0006502 rdfs:label nl Aplasia/hypoplasie waarbij de carpale botten betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving the central nervous system HP:0002977 rdfs:label nl Aplasia/hypoplasie waarbij het centrale zenuwstelsel betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the corticospinal tracts HP:0007365 rdfs:label nl Aplasia/hypoplasie waarbij de corticospinale banen betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving the femoral head and neck HP:0009108 rdfs:label nl Aplasia/Hypoplasie waarbij de femurkop en collum betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving the metacarpal bones HP:0005914 rdfs:label nl Aplasia/Hypoplasie waarbij de metacarpale botten betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving the musculature of the extremities HP:0009128 rdfs:label nl Aplasie/Hypoplasie waarbij de musculatuur van de extremiteiten betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the musculature of the upper arm HP:0001468 rdfs:label nl Aplasie/hypoplasie waarbij de musculatuur van de bovenarm betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the musculature of the upper limbs HP:0001467 rdfs:label nl Aplasie/hypoplasie waarbij de musculatuur van de bovenste ledematen betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the nose HP:0009924 rdfs:label nl Aplasia/Hypoplasie waarbij neus betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the pelvis HP:0009103 rdfs:label nl Aplasia/Hypoplasie waarbij het bekken betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the shoulder musculature HP:0001464 rdfs:label nl Aplasie/hypoplasie waarbij de schoudermusculatuur betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the sinuses HP:0009120 rdfs:label nl Aplasia/Hypoplasie waarbij de sinussen betrokken zijn CANDIDATE +en Aplasia/Hypoplasia involving the skeletal musculature HP:0001460 rdfs:label nl Aplasie/Hypoplasie waarbij de skeletmusculatuur betrokken is CANDIDATE +en Aplasia/Hypoplasia involving the vertebral column HP:0008518 rdfs:label nl Aplasia/Hypoplasie waarbij de wervelkolom betrokken is CANDIDATE +en Aplasia/Hypoplasia of facial bones HP:0034261 rdfs:label nl Aplasia/Hypoplasia of facial bones NOT_TRANSLATED +en Aplasia/Hypoplasia of fingers HP:0006265 rdfs:label nl Aplasie/Hypoplasie van vingers CANDIDATE +en Aplasia/Hypoplasia of metatarsal bones HP:0001964 rdfs:label nl Aplasie/hypoplasie van metatarsale botten CANDIDATE +en Aplasia/Hypoplasia of the 1st metacarpal HP:0010026 rdfs:label nl Aplasia/Hypoplasie van de 1e metacarpaal CANDIDATE +en Aplasia/Hypoplasia of the 2nd finger HP:0006264 rdfs:label nl Aplasie/Hypoplasie van 2e vinger CANDIDATE +en Aplasia/Hypoplasia of the 2nd metacarpal HP:0010036 rdfs:label nl Aplasia/Hypoplasie van de 2e metacarpaal CANDIDATE +en Aplasia/Hypoplasia of the 2nd toe HP:0010325 rdfs:label nl Aplasie/Hypoplasie van 2e teen CANDIDATE +en Aplasia/Hypoplasia of the 3rd finger HP:0009318 rdfs:label nl Aplasie/Hypoplasie van 3e vinger CANDIDATE +en Aplasia/Hypoplasia of the 3rd metacarpal HP:0010039 rdfs:label nl Aplasia/Hypoplasie van de 3e metacarpaal CANDIDATE +en Aplasia/Hypoplasia of the 3rd toe HP:0010331 rdfs:label nl Aplasie/Hypoplasie van 3e teen CANDIDATE +en Aplasia/Hypoplasia of the 4th finger HP:0009272 rdfs:label nl Aplasie/Hypoplasie van 4e vinger CANDIDATE +en Aplasia/Hypoplasia of the 4th metacarpal HP:0010042 rdfs:label nl Aplasia/Hypoplasie van de 4e metacarpaal CANDIDATE +en Aplasia/Hypoplasia of the 4th toe HP:0010337 rdfs:label nl Aplasie/Hypoplasie van 4e teen CANDIDATE +en Aplasia/Hypoplasia of the 5th finger HP:0006262 rdfs:label nl Aplasie/Hypoplasie van 5e vinger CANDIDATE +en Aplasia/Hypoplasia of the 5th metacarpal HP:0010045 rdfs:label nl Aplasia/Hypoplasie van de 5e metacarpaal CANDIDATE +en Aplasia/Hypoplasia of the 5th toe HP:0010343 rdfs:label nl Aplasie/Hypoplasie van 5e teen CANDIDATE +en Aplasia/Hypoplasia of the Epiglottis HP:0010565 rdfs:label nl Aplasia/Hypoplasie van het epiglottis CANDIDATE +en Aplasia/Hypoplasia of the abdominal wall musculature HP:0010318 rdfs:label nl Aplasie/Hypoplasie van de buikwand musculatuur CANDIDATE +en Aplasia/Hypoplasia of the biceps HP:0009782 rdfs:label nl Aplasia/Hypoplasie van de biceps CANDIDATE +en Aplasia/Hypoplasia of the bladder HP:0010476 rdfs:label nl Aplasia/Hypoplasie van de blaas CANDIDATE +en Aplasia/Hypoplasia of the brainstem HP:0007362 rdfs:label nl Aplasia/hypoplasie van de hersenstam CANDIDATE +en Aplasia/Hypoplasia of the breasts HP:0010311 rdfs:label nl Aplasia/Hypoplasie van de borsten CANDIDATE +en Aplasia/Hypoplasia of the capital femoral epiphysis HP:0005003 rdfs:label nl Aplasia/Hypoplasie van de epifyse van de femurkop CANDIDATE +en Aplasia/Hypoplasia of the cerebellar vermis HP:0006817 rdfs:label nl Aplasia/Hypoplasie van de vermis CANDIDATE +en Aplasia/Hypoplasia of the cerebellum HP:0007360 rdfs:label nl Aplasia/hypoplasie van het cerebellum CANDIDATE +en Aplasia/Hypoplasia of the cerebral white matter HP:0012429 rdfs:label nl Aplasia/Hypoplasie van cerebrale witte stof CANDIDATE +en Aplasia/Hypoplasia of the cerebrum HP:0007364 rdfs:label nl Aplasia/hypoplasie van het cerebrum CANDIDATE +en Aplasia/Hypoplasia of the cervical spine HP:0011041 rdfs:label nl Aplasia/Hypoplasie van de cervicale wervelkolom CANDIDATE +en Aplasia/Hypoplasia of the clavicles HP:0006710 rdfs:label nl Aplasia/Hypoplasie van de claviculae CANDIDATE +en Aplasia/Hypoplasia of the clitoris HP:0040255 rdfs:label nl Aplasia/Hypoplasie van de clitoris CANDIDATE +en Aplasia/Hypoplasia of the cochlea HP:0011395 rdfs:label nl Aplasia/Hypoplasie van de cochlea CANDIDATE +en Aplasia/Hypoplasia of the colon HP:0100811 rdfs:label nl Aplasia/hypoplasie van de dikke darm CANDIDATE +en Aplasia/Hypoplasia of the corpus callosum HP:0007370 rdfs:label nl Aplasie/Hypoplasie van het corpus callosum CANDIDATE +en Aplasia/Hypoplasia of the diaphragm HP:0010315 rdfs:label nl Aplasia/Hypoplasie van het diafragma CANDIDATE +en Aplasia/Hypoplasia of the distal phalanges of the hand HP:0009835 rdfs:label nl Aplasie/Hypoplasie van de distale falangen van de handen CANDIDATE +en Aplasia/Hypoplasia of the distal phalanges of the toes HP:0010185 rdfs:label nl Aplasie/Hypoplasie van de distale falangen van de tenen CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 2nd finger HP:0009557 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 2e vinger CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 2nd toe HP:0010413 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 2e teen CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 3rd finger HP:0009421 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 3e vinger CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 3rd toe HP:0100369 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 3e teen CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 4th finger HP:0009289 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 4e vinger CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 4th toe HP:0100370 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 4e teen CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 5th finger HP:0009239 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 5e vinger CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the 5th toe HP:0100371 rdfs:label nl Aplasie/hypoplasie van de distale falanx van de 5e teen CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the hallux HP:0010076 rdfs:label nl Aplasie/Hypoplasie van de distale falanx van de hallux CANDIDATE +en Aplasia/Hypoplasia of the distal phalanx of the thumb HP:0009641 rdfs:label nl Aplasie/Hypoplasie van de distale falanx van de duim CANDIDATE +en Aplasia/Hypoplasia of the ear HP:0008771 rdfs:label nl Aplasia/Hypoplasie van het oor CANDIDATE +en Aplasia/Hypoplasia of the earlobes HP:0009906 rdfs:label nl Aplasia/hypoplasie van de oorlellen CANDIDATE +en Aplasia/Hypoplasia of the external ear HP:0008772 rdfs:label nl Aplasia/Hypoplasie van de externe gehoorgang CANDIDATE +en Aplasia/Hypoplasia of the eyebrow HP:0100840 rdfs:label nl Aplasia/hypoplasie van de wenkbrauw CANDIDATE +en Aplasia/Hypoplasia of the eyelid HP:0011226 rdfs:label nl Aplasia/Hypoplasie van de ooglid CANDIDATE +en Aplasia/Hypoplasia of the fallopian tube HP:0008655 rdfs:label nl Aplasia/Hypoplasie van de eileider CANDIDATE +en Aplasia/Hypoplasia of the fibula HP:0006492 rdfs:label nl Aplasia/hypoplasie van de fibula CANDIDATE +en Aplasia/Hypoplasia of the fifth metatarsal bone HP:0040033 rdfs:label nl Aplasia/Hypoplasie van het vijfde metatarsale bot CANDIDATE +en Aplasia/Hypoplasia of the fovea HP:0008060 rdfs:label nl Aplasia/Hypoplasie van de fovea CANDIDATE +en Aplasia/Hypoplasia of the frontal sinuses HP:0009119 rdfs:label nl Aplasia/Hypoplasie van de frontale sinussen CANDIDATE +en Aplasia/Hypoplasia of the gallbladder HP:0011466 rdfs:label nl Aplasia/Hypoplasie van de galblaas CANDIDATE +en Aplasia/Hypoplasia of the hallux HP:0008362 rdfs:label nl Aplasia/Hypoplasie van de hallux CANDIDATE +en Aplasia/Hypoplasia of the inner ear HP:0008774 rdfs:label nl Aplasia/Hypoplasie van het binnenoor CANDIDATE +en Aplasia/Hypoplasia of the iris HP:0008053 rdfs:label nl Aplasia/Hypoplasie van de iris CANDIDATE +en Aplasia/Hypoplasia of the lens HP:0008063 rdfs:label nl Aplasia/Hypoplasie van de lens CANDIDATE +en Aplasia/Hypoplasia of the liver HP:0034181 rdfs:label nl Aplasia/Hypoplasia of the liver NOT_TRANSLATED +en Aplasia/Hypoplasia of the lungs HP:0006703 rdfs:label nl Aplasia/hypoplasie van de longen CANDIDATE +en Aplasia/Hypoplasia of the macula HP:0008059 rdfs:label nl Aplasia/Hypoplasie van de macula CANDIDATE +en Aplasia/Hypoplasia of the mandible HP:0009118 rdfs:label nl Aplasia/Hypoplasie van de mandibula CANDIDATE +en Aplasia/Hypoplasia of the maxilla HP:0009117 rdfs:label nl Aplasia/Hypoplasie van de maxilla CANDIDATE +en Aplasia/Hypoplasia of the midbrain HP:0034258 rdfs:label nl Aplasia/Hypoplasia of the midbrain NOT_TRANSLATED +en Aplasia/Hypoplasia of the middle ear HP:0008773 rdfs:label nl Aplasia/Hypoplasie van het middenoor CANDIDATE +en Aplasia/Hypoplasia of the middle phalanges of the hand HP:0009843 rdfs:label nl Aplasie/Hypoplasie van de middelste falangen van de handen CANDIDATE +en Aplasia/Hypoplasia of the middle phalanges of the toes HP:0010194 rdfs:label nl Aplasie/Hypoplasie van de middelste falangen van de tenen CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 2nd finger HP:0009568 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 2e vinger CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 2nd toe HP:0010404 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 2e teen CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 3rd finger HP:0009437 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 3e vinger CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 3rd toe HP:0100372 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 3e teen CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 4th finger HP:0009299 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 4e vinger CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 4th toe HP:0100373 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 4e teen CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 5th finger HP:0009161 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 5e vinger CANDIDATE +en Aplasia/Hypoplasia of the middle phalanx of the 5th toe HP:0100374 rdfs:label nl Aplasie/hypoplasie van de middelste falanx van de 5e teen CANDIDATE +en Aplasia/Hypoplasia of the musculature of the pelvis HP:0001471 rdfs:label nl Aplasie/hypoplasie van de bekkenmusculatuur CANDIDATE +en Aplasia/Hypoplasia of the musculature of the thigh HP:0009786 rdfs:label nl Aplasie/Hypoplasie van de musculatuur van de dij CANDIDATE +en Aplasia/Hypoplasia of the nails HP:0008386 rdfs:label nl Aplasia/Hypoplasie van de nagels CANDIDATE +en Aplasia/Hypoplasia of the nasal bone HP:0010940 rdfs:label nl Aplasia/Hypoplasie van de nasale botten CANDIDATE +en Aplasia/Hypoplasia of the nasal septum HP:0009935 rdfs:label nl Aplasia/hypoplasie van het septum nasi CANDIDATE +en Aplasia/Hypoplasia of the nipples HP:0006709 rdfs:label nl Aplasia/Hypoplasie van de tepels CANDIDATE +en Aplasia/Hypoplasia of the optic nerve HP:0008058 rdfs:label nl Aplasia/Hypoplasie van de nervus opticus CANDIDATE +en Aplasia/Hypoplasia of the optic tract HP:0011000 rdfs:label nl Aplasia/Hypoplasie van de tractus opticus CANDIDATE +en Aplasia/Hypoplasia of the ovary HP:0010462 rdfs:label nl Aplasia/Hypoplasie van het ovarium CANDIDATE +en Aplasia/Hypoplasia of the palmar creases HP:0010488 rdfs:label nl Aplasia/Hypoplasie van de handlijnen CANDIDATE +en Aplasia/Hypoplasia of the pancreas HP:0100800 rdfs:label nl Aplasia/hypoplasie van de pancreas CANDIDATE +en Aplasia/Hypoplasia of the patella HP:0006498 rdfs:label nl Aplasia/hypoplasie van de patella CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 2nd finger HP:0009552 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 2e vinger CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 2nd toe HP:0010347 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 2e teen CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 3rd finger HP:0009447 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 3e vinger CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 3rd toe HP:0010359 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 3e teen CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 4th finger HP:0009408 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 4e vinger CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 4th toe HP:0010371 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 4e teen CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 5th finger HP:0009376 IAO:0000115 nl Aplasia/Hypoplasia of the phalanges of the 5th finger NOT_TRANSLATED +en Aplasia/Hypoplasia of the phalanges of the 5th finger HP:0009376 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 5e vinger CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the 5th toe HP:0010383 rdfs:label nl Aplasie/Hypoplasie van de falangen van de 5e teen CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the hallux HP:0010058 rdfs:label nl Aplasie/Hypoplasie van de falangen van de hallux CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the hand HP:0009767 rdfs:label nl Aplasie/Hypoplasie van de falangen van de hand CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the thumb HP:0009658 rdfs:label nl Aplasie/Hypoplasie van de falangen van de duim CANDIDATE +en Aplasia/Hypoplasia of the phalanges of the toes HP:0010173 rdfs:label nl Aplasie/Hypoplasie van de falangen van de tenen CANDIDATE +en Aplasia/Hypoplasia of the premaxilla HP:0010756 rdfs:label nl Aplasia/Hypoplasie van de premaxilla CANDIDATE +en Aplasia/Hypoplasia of the proximal phalanges of the hand HP:0009851 rdfs:label nl Aplasie/Hypoplasie van de proximale falangen van de handen CANDIDATE +en Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger HP:0009580 rdfs:label nl Aplasie/Hypoplasie van de proximale falanx van de 2e vinger CANDIDATE +en Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger HP:0009457 rdfs:label nl Aplasie/Hypoplasie van de proximale falanx van de 3e vinger CANDIDATE +en Aplasia/Hypoplasia of the proximal phalanx of the 4th finger HP:0009300 rdfs:label nl Aplasie/Hypoplasie van de proximale falanx van de 4e vinger CANDIDATE +en Aplasia/Hypoplasia of the proximal phalanx of the 5th finger HP:0009192 rdfs:label nl Aplasie/Hypoplasie van de proximale falanx van de 5e vinger CANDIDATE +en Aplasia/Hypoplasia of the proximal phalanx of the hallux HP:0010085 rdfs:label nl Aplasie/Hypoplasie van de proximale falanx van de hallux CANDIDATE +en Aplasia/Hypoplasia of the proximal phalanx of the thumb HP:0009629 rdfs:label nl Aplasie/Hypoplasie van de proximale falanx van de duim CANDIDATE +en Aplasia/Hypoplasia of the pubic bone HP:0009104 rdfs:label nl Aplasia/Hypoplasie van het os pubis CANDIDATE +en Aplasia/Hypoplasia of the pyramidal tract HP:0007363 rdfs:label nl Aplasie/hypoplasie van de pyramidebaan CANDIDATE +en Aplasia/Hypoplasia of the quadriceps HP:0009787 rdfs:label nl Aplasia/Hypoplasie van de quadriceps CANDIDATE +en Aplasia/Hypoplasia of the radius HP:0006501 rdfs:label nl Aplasia/hypoplasie van de radius CANDIDATE +en Aplasia/Hypoplasia of the retina HP:0008061 rdfs:label nl Aplasia/Hypoplasie van de retina CANDIDATE +en Aplasia/Hypoplasia of the ribs HP:0006712 rdfs:label nl Aplasia/Hypoplasie van de ribben CANDIDATE +en Aplasia/Hypoplasia of the sacrum HP:0008517 rdfs:label nl Aplasia/Hypoplasie van het sacrum CANDIDATE +en Aplasia/Hypoplasia of the scapulae HP:0006713 rdfs:label nl Aplasia/Hypoplasie van de scapulae CANDIDATE +en Aplasia/Hypoplasia of the skin HP:0008065 rdfs:label nl Aplasia/Hypoplasie van de huid CANDIDATE +en Aplasia/Hypoplasia of the spleen HP:0010451 rdfs:label nl Aplasia/Hypoplasie van de milt CANDIDATE +en Aplasia/Hypoplasia of the sternum HP:0006714 rdfs:label nl Aplasia/Hypoplasie van het sternum CANDIDATE +en Aplasia/Hypoplasia of the sweat glands HP:0011135 rdfs:label nl Aplasia/Hypoplasie van de zweetklieren CANDIDATE +en Aplasia/Hypoplasia of the tarsal bones HP:0008363 rdfs:label nl Aplasia/Hypoplasie van de tarsale botten CANDIDATE +en Aplasia/Hypoplasia of the testes HP:0010468 rdfs:label nl Aplasia/Hypoplasie van de testes CANDIDATE +en Aplasia/Hypoplasia of the thumb HP:0009601 rdfs:label nl Aplasia/Hypoplasie van de duim CANDIDATE +en Aplasia/Hypoplasia of the thymus HP:0010515 rdfs:label nl Aplasia/hypoplasie van de thymus CANDIDATE +en Aplasia/Hypoplasia of the thyroid gland HP:0033079 rdfs:label nl Aplasia/Hypoplasia of the thyroid gland NOT_TRANSLATED +en Aplasia/Hypoplasia of the tibia HP:0005772 rdfs:label nl Aplasia/Hypoplasie van de tibia CANDIDATE +en Aplasia/Hypoplasia of the tongue HP:0010295 rdfs:label nl Aplasia/Hypoplasie van de tong CANDIDATE +en Aplasia/Hypoplasia of the tragus HP:0009913 rdfs:label nl Aplasia/hypoplasie van de tragus CANDIDATE +en Aplasia/Hypoplasia of the triceps HP:0009784 rdfs:label nl Aplasia/Hypoplasie van de triceps CANDIDATE +en Aplasia/Hypoplasia of the ulna HP:0006495 rdfs:label nl Aplasia/hypoplasie van de ulna CANDIDATE +en Aplasia/Hypoplasia of the uvula HP:0010293 rdfs:label nl Aplasia/Hypoplasie van de uvula CANDIDATE +en Aplasia/Hypoplasia of the vagina HP:0011026 rdfs:label nl Aplasia/Hypoplasie van de vagina CANDIDATE +en Aplasia/Hypoplasia of the vertebrae HP:0008515 rdfs:label nl Aplasia/Hypoplasie van de wervels CANDIDATE +en Aplasia/Hypoplasia of toe HP:0001991 rdfs:label nl Aplasie/hypoplasie van teen CANDIDATE +en Aplasia/Hypoplastia of the eccrine sweat glands HP:0007592 rdfs:label nl Aplasie/Hypoplasie van de eccriene zweetklieren CANDIDATE +en Aplasia/hypoplasia affecting bones of the axial skeleton HP:0009122 rdfs:label nl Aplasie/hypoplasie die botten van het axiale skelet beïnvloedt CANDIDATE +en Aplasia/hypoplasia involving bones of the extremities HP:0045060 rdfs:label nl Aplasia/Hypoplasie waarbij de beenderen van de extremiteiten betrokken zijn CANDIDATE +en Aplasia/hypoplasia involving bones of the hand HP:0005927 rdfs:label nl Aplasia/hypoplasie waarbij botten van de handen betrokken zijn CANDIDATE +en Aplasia/hypoplasia involving bones of the lower limbs HP:0006493 rdfs:label nl Aplasia/hypoplasie waarbij de botten van de onderste ledematen betrokken zijn CANDIDATE +en Aplasia/hypoplasia involving bones of the upper limbs HP:0006496 rdfs:label nl Aplasia/hypoplasie waarbij de beenderen van de bovenste ledematen betrokken zijn CANDIDATE +en Aplasia/hypoplasia involving forearm bones HP:0006503 rdfs:label nl Aplasia/hypoplasie waarbij botten van onderarm betrokken zijn CANDIDATE +en Aplasia/hypoplasia involving the skeleton HP:0009115 rdfs:label nl Aplasia/hypoplasie waarbij het skelet betrokken is CANDIDATE +en Aplasia/hypoplasia of proximal toe phalanx HP:0010203 rdfs:label nl Aplasie/hypoplasie van proximale teen falanx CANDIDATE +en Aplasia/hypoplasia of the 1st metatarsal HP:0010067 rdfs:label nl Aplasia/hypoplasie van de 1e metatarsaal CANDIDATE +en Aplasia/hypoplasia of the extremities HP:0009815 rdfs:label nl Aplasia/hypoplasie van de extremiteiten CANDIDATE +en Aplasia/hypoplasia of the femur HP:0005613 rdfs:label nl Aplasia/hypoplasie van de femur CANDIDATE +en Aplasia/hypoplasia of the humerus HP:0006507 rdfs:label nl Aplasia/hypoplasie van de humerus CANDIDATE +en Aplasia/hypoplasia of the proximal phalanx of the 2nd toe HP:0010395 rdfs:label nl Aplasie/hypoplasie van de proximale falanx van de 2e teen CANDIDATE +en Aplasia/hypoplasia of the proximal phalanx of the 3rd toe HP:0100375 rdfs:label nl Aplasie/hypoplasie van de proximale falanx van de 3e teen CANDIDATE +en Aplasia/hypoplasia of the proximal phalanx of the 4th toe HP:0100376 rdfs:label nl Aplasie/hypoplasie van de proximale falanx van de 4e teen CANDIDATE +en Aplasia/hypoplasia of the proximal phalanx of the 5th toe HP:0100377 rdfs:label nl Aplasie/hypoplasie van de proximale falanx van de 5e teen CANDIDATE +en Aplasia/hypoplasia of the uterus HP:0008684 rdfs:label nl Aplasia/hypoplasie van de uterus CANDIDATE +en Aplastic anemia HP:0001915 rdfs:label nl Aplastische anemie CANDIDATE +en Aplastic anemia is defined as pancytopenia with a hypocellular marrow HP:0001915 IAO:0000115 nl Aplastic anemia is defined as pancytopenia with a hypocellular marrow NOT_TRANSLATED +en Aplastic clavicle HP:0006660 rdfs:label nl Aplastische claviculae CANDIDATE +en Aplastic colon HP:0500027 rdfs:label nl Aplastisch colon CANDIDATE +en Aplastic nasopharyngeal adenoids HP:0040259 rdfs:label nl Aplastische nasofaryngeale adenoïden CANDIDATE +en Aplastic pubic bones HP:0008817 rdfs:label nl Aplastisch os pubis CANDIDATE +en Aplastic zygomatic arch HP:0034260 rdfs:label nl Aplastic zygomatic arch NOT_TRANSLATED +en Aplastic/Hypoplastic nasopharyngeal adenoids HP:0040256 rdfs:label nl Aplastische/Hypoplastische nasofaryngeale adenoïden CANDIDATE +en Aplastic/hypoplastic lacrimal glands HP:0008038 rdfs:label nl Aplastische/hypoplastische traanklieren CANDIDATE +en Aplastic/hypoplastic toenail HP:0010624 rdfs:label nl Aplastische/hypoplastische teennagel CANDIDATE +en Apnea HP:0002104 rdfs:label nl Apnoe CANDIDATE +en Apnea of prematurity HP:0034236 rdfs:label nl Apnea of prematurity NOT_TRANSLATED +en Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow HP:0002871 IAO:0000115 nl Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow NOT_TRANSLATED +en Apneic episodes in infancy HP:0005949 rdfs:label nl Apneutische episodes tijdens jeugd CANDIDATE +en Apneic episodes precipitated by illness, fatigue, stress HP:0002872 rdfs:label nl Episodes van apnoe, voorafgegaan door ziekte, vermoeidheid, stress CANDIDATE +en Apocrine hidrocystoma HP:0031454 rdfs:label nl Apocrien hidrocystoom CANDIDATE +en Apoptotic, pyknotic, and fragmented nuclei within the glomerulus HP:0033291 IAO:0000115 nl Apoptotic, pyknotic, and fragmented nuclei within the glomerulus NOT_TRANSLATED +en Apparent optic disc swelling in the absence of increased intracranial pressure HP:0000538 IAO:0000115 nl Apparent optic disc swelling in the absence of increased intracranial pressure NOT_TRANSLATED +en Apparently small scrotum for age HP:0000046 IAO:0000115 nl Apparently small scrotum for age NOT_TRANSLATED +en Appendiceal mucinous neoplasm HP:0031499 rdfs:label nl Mucineus neoplasma van appendix CANDIDATE +en Appendicular hypotonia HP:0012389 rdfs:label nl Appendiculaire hypotonie CANDIDATE +en Appendicular spasticity HP:0034353 rdfs:label nl Appendicular spasticity NOT_TRANSLATED +en Applied to a sign or symptom that is aggravated by activity, exertion, or exercise HP:0025286 IAO:0000115 nl Applied to a sign or symptom that is aggravated by activity, exertion, or exercise NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by administration of phenytoin HP:4000132 IAO:0000115 nl Applied to a sign or symptom that is worsened by administration of phenytoin NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide HP:4000127 IAO:0000115 nl Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by being pregnant HP:0032542 IAO:0000115 nl Applied to a sign or symptom that is worsened by being pregnant NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by ingestion of aspirin HP:0032365 IAO:0000115 nl Applied to a sign or symptom that is worsened by ingestion of aspirin NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate) HP:0032534 IAO:0000115 nl Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate) NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by smoking tobacco products HP:0032500 IAO:0000115 nl Applied to a sign or symptom that is worsened by smoking tobacco products NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by taking barbituates HP:0032502 IAO:0000115 nl Applied to a sign or symptom that is worsened by taking barbituates NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by taking contraceptive medication HP:0032501 IAO:0000115 nl Applied to a sign or symptom that is worsened by taking contraceptive medication NOT_TRANSLATED +en Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon) HP:0032525 IAO:0000115 nl Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon) NOT_TRANSLATED +en Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present HP:0025303 IAO:0000115 nl Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present NOT_TRANSLATED +en Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection) HP:0025297 IAO:0000115 nl Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection) NOT_TRANSLATED +en Applied to pain that is described as sharp, i.e., sudden and severe HP:0025281 IAO:0000115 nl Applied to pain that is described as sharp, i.e., sudden and severe NOT_TRANSLATED +en Applied to pain that is dull, i.e., not severe but that continues over a long period of time HP:0025282 IAO:0000115 nl Applied to pain that is dull, i.e., not severe but that continues over a long period of time NOT_TRANSLATED +en Applied to pain that is tender, i.e., elicited by touching the affected body part HP:0025283 IAO:0000115 nl Applied to pain that is tender, i.e., elicited by touching the affected body part NOT_TRANSLATED +en Applied to pain that wakes the affecting individual from sleep HP:0025284 IAO:0000115 nl Applied to pain that wakes the affecting individual from sleep NOT_TRANSLATED +en Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age HP:0003680 IAO:0000115 nl Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age NOT_TRANSLATED +en Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age HP:0003676 IAO:0000115 nl Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age NOT_TRANSLATED +en Applies to a disease manifestation that only slowly increases in scope or severity over the course of time HP:0003677 IAO:0000115 nl Applies to a disease manifestation that only slowly increases in scope or severity over the course of time NOT_TRANSLATED +en Applies to a disease manifestation that quickly increases in scope or severity over the course of time HP:0003678 IAO:0000115 nl Applies to a disease manifestation that quickly increases in scope or severity over the course of time NOT_TRANSLATED +en Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another HP:0003682 IAO:0000115 nl Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another NOT_TRANSLATED +en Applies to a sign or symptom that is difficult to treat or cure HP:0031375 IAO:0000115 nl Applies to a sign or symptom that is difficult to treat or cure NOT_TRANSLATED +en Applies to a sign or symptom that is exacerbated in the evening as compared to the day HP:0410401 IAO:0000115 nl Applies to a sign or symptom that is exacerbated in the evening as compared to the day NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by administration of colchizine HP:4000130 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by administration of colchizine NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D HP:4000131 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon HP:0032526 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol) HP:0032503 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol) NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar) HP:0025257 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar) NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet HP:0034516 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by heat (including fever) HP:0025256 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by heat (including fever) NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by lumbar puncture HP:0034459 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by lumbar puncture NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation HP:4000103 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female HP:0025255 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female NOT_TRANSLATED +en Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication HP:0032522 IAO:0000115 nl Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication NOT_TRANSLATED +en Applies to a sign or symptom that is induced by an abusive adult (usually a parent) HP:0033032 IAO:0000115 nl Applies to a sign or symptom that is induced by an abusive adult (usually a parent) NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled HP:0025227 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep HP:0025222 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension HP:0025226 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion) HP:0025334 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion) NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by a sudden movement HP:0025228 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by a sudden movement NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by a vaccination HP:0025219 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by a vaccination NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting) HP:0025212 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting) NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water HP:0025207 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant HP:0025205 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol HP:0025211 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating a certain food HP:0033793 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating a certain food NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids HP:0025217 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating cheese HP:0033789 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating cheese NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating fava beans HP:0034060 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating fava beans NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal HP:0025216 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates HP:0025208 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium HP:0031167 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose HP:0025209 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose HP:0025213 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose HP:0025210 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium HP:0025224 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing HP:0025218 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise HP:0025377 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis HP:4000121 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma HP:0500260 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to a medication HP:4000101 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to a medication NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium HP:0034195 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue) HP:0031135 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue) NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to allergens HP:0034423 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to allergens NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol HP:4000102 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field HP:4000109 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics HP:0500261 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril HP:4000133 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings HP:0025206 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to heat HP:0025214 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to heat NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise HP:0025225 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by febrile illness HP:0025215 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by febrile illness NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by infection by a virus HP:0033198 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by infection by a virus NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus HP:0033185 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by menstruation in a female HP:0025220 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by menstruation in a female NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by pregnancy in a female HP:0025221 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by pregnancy in a female NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by smoking HP:0025223 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by smoking NOT_TRANSLATED +en Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair HP:0025229 IAO:0000115 nl Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair NOT_TRANSLATED +en Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma HP:0025315 IAO:0000115 nl Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma NOT_TRANSLATED +en Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present HP:0031796 IAO:0000115 nl Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present NOT_TRANSLATED +en Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time HP:0025302 IAO:0000115 nl Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time NOT_TRANSLATED +en Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours) HP:0025305 IAO:0000115 nl Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours) NOT_TRANSLATED +en Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length HP:0025304 IAO:0000115 nl Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length NOT_TRANSLATED +en Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy) HP:0034440 IAO:0000115 nl Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy) NOT_TRANSLATED +en Applies to an abnormality that affects the arms, trunk, head more than the legs HP:0025290 IAO:0000115 nl Applies to an abnormality that affects the arms, trunk, head more than the legs NOT_TRANSLATED +en Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose) HP:0025292 IAO:0000115 nl Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose) NOT_TRANSLATED +en Applies to an abnormality that affects the legs more than the arms, trunk, head HP:0025291 IAO:0000115 nl Applies to an abnormality that affects the legs more than the arms, trunk, head NOT_TRANSLATED +en Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure HP:0030645 IAO:0000115 nl Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure NOT_TRANSLATED +en Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure HP:0025275 IAO:0000115 nl Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure NOT_TRANSLATED +en Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint HP:0032539 IAO:0000115 nl Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint NOT_TRANSLATED +en Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed) HP:0032540 IAO:0000115 nl Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed) NOT_TRANSLATED +en Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep) HP:0034439 IAO:0000115 nl Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep) NOT_TRANSLATED +en Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs HP:0025287 IAO:0000115 nl Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs NOT_TRANSLATED +en Applies to an abnormality that is situated in the neck HP:0032535 IAO:0000115 nl Applies to an abnormality that is situated in the neck NOT_TRANSLATED +en Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck HP:0032544 IAO:0000115 nl Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck NOT_TRANSLATED +en Applies to an abnormality that occurs in or is exacerbated during the night HP:0025301 IAO:0000115 nl Applies to an abnormality that occurs in or is exacerbated during the night NOT_TRANSLATED +en Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel) HP:0033819 IAO:0000115 nl Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel) NOT_TRANSLATED +en Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung HP:0033820 IAO:0000115 nl Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung NOT_TRANSLATED +en Applies to an abnormality whose distribution and appearance resembles a net or network-like structure HP:0033818 IAO:0000115 nl Applies to an abnormality whose distribution and appearance resembles a net or network-like structure NOT_TRANSLATED +en Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent HP:0025296 IAO:0000115 nl Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent NOT_TRANSLATED +en Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections HP:0025295 IAO:0000115 nl Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections NOT_TRANSLATED +en Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution HP:0025294 IAO:0000115 nl Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution NOT_TRANSLATED +en Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body HP:0025293 IAO:0000115 nl Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body NOT_TRANSLATED +en Applies to an individual who needs help in moving from bed to chair or requires a complete transfer HP:0031062 IAO:0000115 nl Applies to an individual who needs help in moving from bed to chair or requires a complete transfer NOT_TRANSLATED +en Applies to an individual who needs partial or total help with feeding or requires parenteral feeding HP:0031063 IAO:0000115 nl Applies to an individual who needs partial or total help with feeding or requires parenteral feeding NOT_TRANSLATED +en Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff HP:0034432 IAO:0000115 nl Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff NOT_TRANSLATED +en Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage HP:0034433 IAO:0000115 nl Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage NOT_TRANSLATED +en Apraxia HP:0002186 rdfs:label nl Apraxie CANDIDATE +en Aprosencephaly HP:0007268 rdfs:label nl Aprosencefalie CANDIDATE +en Aquagenic urticaria HP:0410136 rdfs:label nl Aquagenic urticaria NOT_TRANSLATED +en Aqueductal stenosis HP:0002410 rdfs:label nl Aquaduct stenose CANDIDATE +en Arachnodactyly HP:0001166 rdfs:label nl Arachnodactylie CANDIDATE +en Arachnoid cyst HP:0100702 rdfs:label nl Arachnoïdale cyste CANDIDATE +en Arachnoid granulation HP:0034454 rdfs:label nl Arachnoid granulation NOT_TRANSLATED +en Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull HP:0034454 IAO:0000115 nl Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull NOT_TRANSLATED +en Arachnoid hemangiomatosis HP:0012222 rdfs:label nl Arachnoïdale hemangiomatose CANDIDATE +en Archibald's sign HP:0031809 rdfs:label nl Archibald's sign NOT_TRANSLATED +en Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss HP:0033007 IAO:0000115 nl Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss NOT_TRANSLATED +en Architectural distortion of the lung HP:0033007 rdfs:label nl Architectural distortion of the lung NOT_TRANSLATED +en Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers HP:0032087 IAO:0000115 nl Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers NOT_TRANSLATED +en Arcuate artery endoarterial foam cell hypercellularity HP:0033928 rdfs:label nl Arcuate artery endoarterial foam cell hypercellularity NOT_TRANSLATED +en Arcuate artery endoarterial hypercellularity HP:0033903 rdfs:label nl Arcuate artery endoarterial hypercellularity NOT_TRANSLATED +en Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) HP:0033927 IAO:0000115 nl Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes) NOT_TRANSLATED +en Arcuate artery endoarterial leukocyte hypercellularity HP:0033927 rdfs:label nl Arcuate artery endoarterial leukocyte hypercellularity NOT_TRANSLATED +en Arcuate artery endoarterial lymphocyte hypercellularity HP:0033930 rdfs:label nl Arcuate artery endoarterial lymphocyte hypercellularity NOT_TRANSLATED +en Arcuate artery endoarterial neutrophil hypercellularity HP:0033929 rdfs:label nl Arcuate artery endoarterial neutrophil hypercellularity NOT_TRANSLATED +en Arcuate artery endotheliosis HP:0033902 rdfs:label nl Arcuate artery endotheliosis NOT_TRANSLATED +en Arcuate artery intima/media amyloidosis HP:0033914 rdfs:label nl Arcuate artery intima/media amyloidosis NOT_TRANSLATED +en Arcuate artery intima/media arteriitis HP:0033948 rdfs:label nl Arcuate artery intima/media arteriitis NOT_TRANSLATED +en Arcuate artery intima/media arteriosclerosis HP:0033905 rdfs:label nl Arcuate artery intima/media arteriosclerosis NOT_TRANSLATED +en Arcuate artery intima/media coagulative necrosis HP:0033932 rdfs:label nl Arcuate artery intima/media coagulative necrosis NOT_TRANSLATED +en Arcuate artery intima/media granulomatous arteriitis HP:0033949 rdfs:label nl Arcuate artery intima/media granulomatous arteriitis NOT_TRANSLATED +en Arcuate artery intima/media liquefactive necrosis HP:0033933 rdfs:label nl Arcuate artery intima/media liquefactive necrosis NOT_TRANSLATED +en Arcuate artery intima/media necrosis HP:0033931 rdfs:label nl Arcuate artery intima/media necrosis NOT_TRANSLATED +en Arcuate artery intimal mucoid edema HP:0033915 rdfs:label nl Arcuate artery intimal mucoid edema NOT_TRANSLATED +en Arcuate artery intraluminal thrombi HP:0033898 rdfs:label nl Arcuate artery intraluminal thrombi NOT_TRANSLATED +en Arcuate artery lumen cholesterol emboli HP:0033897 rdfs:label nl Arcuate artery lumen cholesterol emboli NOT_TRANSLATED +en Arcuate artery lumen organized thrombi HP:0033899 rdfs:label nl Arcuate artery lumen organized thrombi NOT_TRANSLATED +en Arcuate intimal/medial granulomatous venulitis HP:0033945 rdfs:label nl Arcuate intimal/medial granulomatous venulitis NOT_TRANSLATED +en Arcuate intimal/medial venulitis HP:0033917 rdfs:label nl Arcuate intimal/medial venulitis NOT_TRANSLATED +en Arcuate scotoma HP:0030530 rdfs:label nl Arcuate scotoom CANDIDATE +en Arcuate vein intima/media crystal accumulation HP:0033946 rdfs:label nl Arcuate vein intima/media crystal accumulation NOT_TRANSLATED +en Arcuate vein intima/medial amyloidosis HP:0033882 rdfs:label nl Arcuate vein intima/medial amyloidosis NOT_TRANSLATED +en Arcuate vein intimal mucoid edema HP:0033880 rdfs:label nl Arcuate vein intimal mucoid edema NOT_TRANSLATED +en Arcuate vein intimal/medial myxomatous degeneration HP:0033881 rdfs:label nl Arcuate vein intimal/medial myxomatous degeneration NOT_TRANSLATED +en Arcuate vein intimal/medial storage material accumulation HP:0033934 rdfs:label nl Arcuate vein intimal/medial storage material accumulation NOT_TRANSLATED +en Arcuate vein intraluminal thrombi HP:0033877 rdfs:label nl Arcuate vein intraluminal thrombi NOT_TRANSLATED +en Arcuate vein lumen cholesterol emboli HP:0033876 rdfs:label nl Arcuate vein lumen cholesterol emboli NOT_TRANSLATED +en Arcuate vein lumen organized thrombi HP:0033878 rdfs:label nl Arcuate vein lumen organized thrombi NOT_TRANSLATED +en Arcuate vein medial atrophy HP:0033910 rdfs:label nl Arcuate vein medial atrophy NOT_TRANSLATED +en Arcuate vein medial hypertrophy HP:0033909 rdfs:label nl Arcuate vein medial hypertrophy NOT_TRANSLATED +en Arcuate vein medial/intimal coagulative necrosis HP:0033943 rdfs:label nl Arcuate vein medial/intimal coagulative necrosis NOT_TRANSLATED +en Arcuate vein medial/intimal liquefactive necrosis HP:0033944 rdfs:label nl Arcuate vein medial/intimal liquefactive necrosis NOT_TRANSLATED +en Arcuate vein medial/intimal necrosis HP:0033942 rdfs:label nl Arcuate vein medial/intimal necrosis NOT_TRANSLATED +en Area of skin requiring an increased amount of time to return to its original shape after being stretched HP:0025087 IAO:0000115 nl Area of skin requiring an increased amount of time to return to its original shape after being stretched NOT_TRANSLATED +en Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together HP:0040330 IAO:0000115 nl Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together NOT_TRANSLATED +en Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system HP:0030892 IAO:0000115 nl Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system NOT_TRANSLATED +en Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles HP:0030891 IAO:0000115 nl Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles NOT_TRANSLATED +en Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum) HP:0025192 IAO:0000115 nl Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum) NOT_TRANSLATED +en Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium HP:4000004 IAO:0000115 nl Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium NOT_TRANSLATED +en Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium HP:4000005 IAO:0000115 nl Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium NOT_TRANSLATED +en Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines HP:0007402 rdfs:label nl Gebieden van hypopigmentatie en hyperpigmentatie die geen Blaschko lijnen volgen CANDIDATE +en Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography HP:0025396 IAO:0000115 nl Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography NOT_TRANSLATED +en Areas of necrotic tissue within a lymph node HP:4000149 IAO:0000115 nl Areas of necrotic tissue within a lymph node NOT_TRANSLATED +en Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra HP:0031016 IAO:0000115 nl Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra NOT_TRANSLATED +en Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery HP:0025385 IAO:0000115 nl Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery NOT_TRANSLATED +en Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery HP:0025384 IAO:0000115 nl Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery NOT_TRANSLATED +en Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina HP:0009727 IAO:0000115 nl Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina NOT_TRANSLATED +en Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks HP:0025123 IAO:0000115 nl Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks NOT_TRANSLATED +en Areflexia HP:0001284 rdfs:label nl Areflexie CANDIDATE +en Areflexia of lower limbs HP:0002522 rdfs:label nl Areflexie van onderste ledematen CANDIDATE +en Areflexia of upper limbs HP:0012046 rdfs:label nl Areflexie van bovenste extremiteiten CANDIDATE +en Areflexia that is limited to one side of the body HP:0031004 IAO:0000115 nl Areflexia that is limited to one side of the body NOT_TRANSLATED +en Areolar fullness HP:0032315 rdfs:label nl Areolar fullness NOT_TRANSLATED +en Argininosuccinic aciduria HP:0025630 rdfs:label nl Argininosuccinic aciduria NOT_TRANSLATED +en Argininuria HP:0003268 rdfs:label nl Argininurie CANDIDATE +en Argyrophilic inclusion bodies HP:0100317 rdfs:label nl Argyrophilic inclusion bodies NOT_TRANSLATED +en Arm dystonia HP:0031960 rdfs:label nl Arm dystonia NOT_TRANSLATED +en Arm shortening because of underdevelopment of one or more bones of the upper extremity HP:0009824 IAO:0000115 nl Arm shortening because of underdevelopment of one or more bones of the upper extremity NOT_TRANSLATED +en Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) HP:0007099 IAO:0000115 nl Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) NOT_TRANSLATED +en Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries HP:0033210 IAO:0000115 nl Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries NOT_TRANSLATED +en Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli HP:0033209 IAO:0000115 nl Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli NOT_TRANSLATED +en Arrhinencephaly HP:0002139 rdfs:label nl Arrhinencephalie CANDIDATE +en Arrhythmia HP:0011675 rdfs:label nl Arrhythmie CANDIDATE +en Arteria lusoria HP:0031014 rdfs:label nl Arteria lusoria CANDIDATE +en Arterial calcification HP:0003207 rdfs:label nl Arteriële calcificatie CANDIDATE +en Arterial dissection HP:0005294 rdfs:label nl Arteriële dissectie CANDIDATE +en Arterial fibromuscular dysplasia HP:0005313 rdfs:label nl Arteriële fibromusculaire dysplasie CANDIDATE +en Arterial inflammation HP:0012089 IAO:0000115 nl Arterial inflammation NOT_TRANSLATED +en Arterial intimal fibrosis HP:0011353 rdfs:label nl Fibrose van arteriële intima CANDIDATE +en Arterial occlusion HP:0025324 rdfs:label nl Arteriële occlusie CANDIDATE +en Arterial rupture HP:0025019 rdfs:label nl Arteriële ruptuur CANDIDATE +en Arterial stenosis HP:0100545 rdfs:label nl Arteriele stenose CANDIDATE +en Arterial thrombosis HP:0004420 rdfs:label nl Arteriële trombose CANDIDATE +en Arterial tortuosity HP:0005116 rdfs:label nl Arteriële kronkeligheid CANDIDATE +en Arteriosclerosis HP:0002634 rdfs:label nl Arteriosclerose CANDIDATE +en Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain HP:0004931 IAO:0000115 nl Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain NOT_TRANSLATED +en Arteriosclerosis occurring at an age that is younger than usual HP:0005177 IAO:0000115 nl Arteriosclerosis occurring at an age that is younger than usual NOT_TRANSLATED +en Arteriosclerosis of small cerebral arteries HP:0004931 rdfs:label nl Arteriosclerose van kleine cerebrale arteriën CANDIDATE +en Arteriovenous fistula HP:0004947 rdfs:label nl Arterioveneuze fistel CANDIDATE +en Arteriovenous fistulas of celiac and mesenteric vessels HP:0002642 rdfs:label nl Arterioveneuze fistels van truncus coeliacus of mesenterische vaten CANDIDATE +en Arteriovenous malformation HP:0100026 rdfs:label nl Arterioveneuze malformatie CANDIDATE +en Arteriovenous malformation of the lip HP:0031488 rdfs:label nl Arterioveneuze malformatie van de lip CANDIDATE +en Arteriovenous malformation of the maxilla HP:0031257 rdfs:label nl Arterioveneuze malformatie van de maxilla CANDIDATE +en Arteritis HP:0012089 rdfs:label nl Arteritis CANDIDATE +en Arthralgia HP:0002829 rdfs:label nl Artralgie CANDIDATE +en Arthralgia of the hip HP:0003365 rdfs:label nl Artralgie van de heup CANDIDATE +en Arthralgia/arthritis HP:0005059 rdfs:label nl Artralgie/artritis CANDIDATE +en Arthritis HP:0001369 rdfs:label nl Artritis CANDIDATE +en Arthrogryposis multiplex congenita HP:0002804 rdfs:label nl Arthrogryposis multiplex congenita CANDIDATE +en Arthrogryposis-like hand anomaly HP:0005612 rdfs:label nl Arthrogryposis-achtige hand afwijking CANDIDATE +en Arthropathy HP:0003040 rdfs:label nl Artropathie CANDIDATE +en As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure HP:0031110 IAO:0000115 nl As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure NOT_TRANSLATED +en As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced HP:0031575 IAO:0000115 nl As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced NOT_TRANSLATED +en As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening HP:0031573 IAO:0000115 nl As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening NOT_TRANSLATED +en As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly HP:0031572 IAO:0000115 nl As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly NOT_TRANSLATED +en As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal HP:0500063 IAO:0000115 nl As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal NOT_TRANSLATED +en Asbestos exposure HP:4000111 rdfs:label nl Asbestos exposure NOT_TRANSLATED +en Ascending aorta hypoplasia HP:0031935 rdfs:label nl Ascending aorta hypoplasia NOT_TRANSLATED +en Ascending aortic dissection HP:0004933 rdfs:label nl Aorta ascendens dissectie CANDIDATE +en Ascending tubular aorta aneurysm HP:0004970 rdfs:label nl Tubulair aneurysma aorta ascendens CANDIDATE +en Ascites HP:0001541 rdfs:label nl Ascites CANDIDATE +en Ash-leaf spot HP:0030679 rdfs:label nl Ash-leaf spot NOT_TRANSLATED +en Asparaginuria HP:0032403 rdfs:label nl Asparaginuria NOT_TRANSLATED +en Aspartic aciduria HP:0032401 rdfs:label nl Aspartic aciduria NOT_TRANSLATED +en Aspartylglucosaminuria HP:0012068 rdfs:label nl Aspartylglucosaminurie CANDIDATE +en Aspiration HP:0002835 rdfs:label nl Aspiratie CANDIDATE +en Aspiration pneumonia HP:0011951 rdfs:label nl Aspiratiepneumonie CANDIDATE +en Aspirin-induced asthma HP:0012042 rdfs:label nl Aspirine-geïnduceerde astma CANDIDATE +en Asplenia HP:0001746 rdfs:label nl Asplenie CANDIDATE +en Astasia HP:0020037 rdfs:label nl Astasie CANDIDATE +en Astereognosia HP:0010527 rdfs:label nl Astereognosie CANDIDATE +en Asterixis HP:0012164 rdfs:label nl Asterixis CANDIDATE +en Asternia HP:0010308 rdfs:label nl Asternie CANDIDATE +en Asteroid hyalosis HP:0030672 rdfs:label nl Asteroide hyalosis CANDIDATE +en Asthenia HP:0025406 rdfs:label nl Asthenie CANDIDATE +en Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones HP:0001533 IAO:0000115 nl Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones NOT_TRANSLATED +en Asthenopia HP:0031590 rdfs:label nl Asthenopie CANDIDATE +en Asthma HP:0002099 rdfs:label nl Astma CANDIDATE +en Asthma attacks following exercise HP:0012652 IAO:0000115 nl Asthma attacks following exercise NOT_TRANSLATED +en Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing HP:0002099 IAO:0000115 nl Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing NOT_TRANSLATED +en Astigmatism HP:0000483 rdfs:label nl Astigmatisme CANDIDATE +en Astigmatism in which the refractive power of the vertical meridian is the greatest HP:0031787 IAO:0000115 nl Astigmatism in which the refractive power of the vertical meridian is the greatest NOT_TRANSLATED +en Astigmatism with more plus power on the horizontal meridian HP:0031789 IAO:0000115 nl Astigmatism with more plus power on the horizontal meridian NOT_TRANSLATED +en Astrocytoma HP:0009592 rdfs:label nl Astrocytoom CANDIDATE +en Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma HP:0009592 IAO:0000115 nl Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma NOT_TRANSLATED +en Astrocytosis HP:0002446 rdfs:label nl Astrocytose CANDIDATE +en Asymmetric abdominal aortic aneurysm HP:0031711 rdfs:label nl Asymmetrisch abdominaal aorta aneurysma CANDIDATE +en Asymmetric crying face HP:0011333 rdfs:label nl Asymmetrisch huilend gezicht CANDIDATE +en Asymmetric growth HP:0100555 rdfs:label nl Asymmetrische groei CANDIDATE +en Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape HP:0001357 IAO:0000115 nl Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape NOT_TRANSLATED +en Asymmetric limb muscle stiffness HP:0007156 rdfs:label nl Asymmetrische spierstijfheid in ledemaat CANDIDATE +en Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures HP:0032837 IAO:0000115 nl Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures NOT_TRANSLATED +en Asymmetric peripheral demyelination HP:0030176 rdfs:label nl Asymmetrische perifere demyelinisatie CANDIDATE +en Asymmetric radial dysplasia HP:0006420 rdfs:label nl Assymetrische radius dysplasie CANDIDATE +en Asymmetric septal hypertrophy HP:0001670 rdfs:label nl Asymmetrische septale hypertrofie CANDIDATE +en Asymmetric short stature HP:0008929 rdfs:label nl Asymmetrische korte lengte CANDIDATE +en Asymmetric, linear skin defects HP:0007398 rdfs:label nl Asymmetrische, lineaire huid defecten CANDIDATE +en Asymmetrical distribution of flash visual evoked potentials HP:0030463 rdfs:label nl Asymmetrical distribution of flash visual evoked potentials NOT_TRANSLATED +en Asymmetrical distribution of pattern reversal visual evoked potentials HP:0030464 rdfs:label nl Asymmetrical distribution of pattern reversal visual evoked potentials NOT_TRANSLATED +en Asymmetrical gluteal crease HP:0410260 rdfs:label nl Asymmetrical gluteal crease NOT_TRANSLATED +en Asymmetry between the left and right sides of the maxilla HP:0010755 IAO:0000115 nl Asymmetry between the left and right sides of the maxilla NOT_TRANSLATED +en Asymmetry between the two irides or asymmetry between different parts of one iris HP:0200064 IAO:0000115 nl Asymmetry between the two irides or asymmetry between different parts of one iris NOT_TRANSLATED +en Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side HP:0011333 IAO:0000115 nl Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side NOT_TRANSLATED +en Asymmetry of intraocular pressure HP:0012633 rdfs:label nl Asymmetrie van de oogboldruk CANDIDATE +en Asymmetry of iris pigmentation HP:0200064 rdfs:label nl Asymmetrie van iris pigmentatie CANDIDATE +en Asymmetry of spinal facet joints HP:0008482 rdfs:label nl Asymmetrie van spinale facetgewrichten CANDIDATE +en Asymmetry of the anterior part of the skull HP:0011326 IAO:0000115 nl Asymmetry of the anterior part of the skull NOT_TRANSLATED +en Asymmetry of the bones of the skull HP:0000267 IAO:0000115 nl Asymmetry of the bones of the skull NOT_TRANSLATED +en Asymmetry of the bones of the skull and the face HP:0004484 IAO:0000115 nl Asymmetry of the bones of the skull and the face NOT_TRANSLATED +en Asymmetry of the breasts HP:0010312 rdfs:label nl Asymmetrie van de borsten CANDIDATE +en Asymmetry of the ears HP:0010722 rdfs:label nl Asymmetrie van de oren CANDIDATE +en Asymmetry of the mandible HP:0009940 rdfs:label nl Asymmetrie van de mandibula CANDIDATE +en Asymmetry of the maxilla HP:0010755 rdfs:label nl Asymmetrie van de maxilla CANDIDATE +en Asymmetry of the mouth HP:0009941 rdfs:label nl Asymmetrie van de mond CANDIDATE +en Asymmetry of the nares HP:0009930 rdfs:label nl Asymmetrie van de neusgaten CANDIDATE +en Asymmetry of the position of the ears HP:0040093 rdfs:label nl Asymmetrie van de positie van de oren CANDIDATE +en Asymmetry of the posterior part of the skull HP:0011327 IAO:0000115 nl Asymmetry of the posterior part of the skull NOT_TRANSLATED +en Asymmetry of the shape of the ears HP:0040092 rdfs:label nl Asymmetrie van de vorm van de oren CANDIDATE +en Asymmetry of the size of ears HP:0040091 rdfs:label nl Asymmetrie van de grootte van de oren CANDIDATE +en Asymmetry of the thorax HP:0001555 rdfs:label nl Asymmetrie van de thorax CANDIDATE +en Asymmetry or size difference between the left and right nostril HP:0009930 IAO:0000115 nl Asymmetry or size difference between the left and right nostril NOT_TRANSLATED +en Asymptomatic hyperammonemia HP:0008162 rdfs:label nl Asymptomatische hyperammoniëmie CANDIDATE +en Asynergia HP:0010869 rdfs:label nl Asynergie CANDIDATE +en At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass HP:0034244 IAO:0000115 nl At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass NOT_TRANSLATED +en At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia HP:0005432 IAO:0000115 nl At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia NOT_TRANSLATED +en At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast HP:0032597 IAO:0000115 nl At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast NOT_TRANSLATED +en At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes HP:0032621 IAO:0000115 nl At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes NOT_TRANSLATED +en At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei HP:0032605 IAO:0000115 nl At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei NOT_TRANSLATED +en Ataxia HP:0001251 rdfs:label nl Ataxie CANDIDATE +en Atelectasis HP:0100750 rdfs:label nl Atelectase CANDIDATE +en Atelencephaly HP:0025692 rdfs:label nl Atelencephaly NOT_TRANSLATED +en Atheroeruptive xanthoma HP:0001039 rdfs:label nl Atheroeruptief xanthoom CANDIDATE +en Atherosclerosis HP:0002621 rdfs:label nl Atherosclerose CANDIDATE +en Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors HP:0004943 IAO:0000115 nl Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors NOT_TRANSLATED +en Atherosclerotic lesion HP:0031678 rdfs:label nl Atherosclerotische laesie CANDIDATE +en Athetoid cerebral palsy HP:0011445 rdfs:label nl Athetoïde cerebrale parese CANDIDATE +en Athetosis HP:0002305 rdfs:label nl Athetose CANDIDATE +en Atlantoaxial abnormality HP:0003413 rdfs:label nl Atlantoaxiale afwijking CANDIDATE +en Atlantoaxial dislocation HP:0003414 rdfs:label nl Atlantoaxiale dislocatie CANDIDATE +en Atlantoaxial instability HP:0003467 rdfs:label nl Atlantoaxiale instabiliteit CANDIDATE +en Atoll sign HP:0032983 rdfs:label nl Atoll sign NOT_TRANSLATED +en Atonic seizure HP:0010819 rdfs:label nl Atonische aanvallen CANDIDATE +en Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature HP:0010819 IAO:0000115 nl Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature NOT_TRANSLATED +en Atopic dermatitis HP:0001047 rdfs:label nl Atopische dermatitis CANDIDATE +en Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage HP:0001047 IAO:0000115 nl Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage NOT_TRANSLATED +en Atransferrinemia HP:0012239 rdfs:label nl Atransferrinemie CANDIDATE +en Atresia in the extrahepatic bile duct HP:0005242 IAO:0000115 nl Atresia in the extrahepatic bile duct NOT_TRANSLATED +en Atresia in the intrahepatic bile duct HP:0005248 IAO:0000115 nl Atresia in the intrahepatic bile duct NOT_TRANSLATED +en Atresia of the Eustachian tube HP:0040117 rdfs:label nl Atresie van de buis van Eustachius CANDIDATE +en Atresia of the biliary tree HP:0005912 IAO:0000115 nl Atresia of the biliary tree NOT_TRANSLATED +en Atresia of the external auditory canal HP:0000413 rdfs:label nl Atresie van het externe auditieve kanaal CANDIDATE +en Atretic gallbladder HP:0011984 rdfs:label nl Atretische galblaas CANDIDATE +en Atretic occipital cephalocele HP:0004470 rdfs:label nl Atretische occipitale cefalocele CANDIDATE +en Atretic vas deferens HP:0030997 rdfs:label nl Atretisch vas deferens CANDIDATE +en Atrial arrhythmia HP:0001692 rdfs:label nl Primaire atriale aritmie CANDIDATE +en Atrial cardiomyopathy HP:0200127 rdfs:label nl Atriale cardiomyopathie CANDIDATE +en Atrial fibrillation HP:0005110 rdfs:label nl Atriumfibrilleren CANDIDATE +en Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent HP:0004754 IAO:0000115 nl Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent NOT_TRANSLATED +en Atrial flutter HP:0004749 rdfs:label nl Atriale flutter CANDIDATE +en Atrial reentry tachycardia HP:0011699 rdfs:label nl Atriale re-entry tachycardie CANDIDATE +en Atrial septal defect HP:0001631 rdfs:label nl Atriumseptumdefect (ASD) CANDIDATE +en Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum HP:0001631 IAO:0000115 nl Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum NOT_TRANSLATED +en Atrial septal dilatation HP:0011995 rdfs:label nl Atriale septale dilatatie CANDIDATE +en Atrial septal hypertrophy HP:0031296 rdfs:label nl Atriale septale hypertrofie CANDIDATE +en Atrial situs ambiguous HP:0011539 rdfs:label nl Atriale situs ambiguus CANDIDATE +en Atrial situs inversus HP:0011538 rdfs:label nl Atriale situs inversus CANDIDATE +en Atrial standstill HP:0025478 rdfs:label nl Atriale stilstand CANDIDATE +en Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram HP:0025478 IAO:0000115 nl Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram NOT_TRANSLATED +en Atrichia HP:0500262 rdfs:label nl Atrichia NOT_TRANSLATED +en Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance HP:0011709 IAO:0000115 nl Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance NOT_TRANSLATED +en Atrioventricular block HP:0001678 rdfs:label nl Atrioventiculair blok CANDIDATE +en Atrioventricular canal defect HP:0006695 rdfs:label nl Atrioventriculair kanaal defect CANDIDATE +en Atrioventricular dissociation HP:0011709 rdfs:label nl Atrioventriculaire dissociatie CANDIDATE +en Atrioventricular reentrant tachycardia HP:0011717 rdfs:label nl Atrioventriculaire re-entry tachycardie CANDIDATE +en Atrioventricular valve regurgitation HP:0034376 rdfs:label nl Atrioventricular valve regurgitation NOT_TRANSLATED +en Atrophic changes of axons of the peripheral nervous system HP:0003384 IAO:0000115 nl Atrophic changes of axons of the peripheral nervous system NOT_TRANSLATED +en Atrophic gastritis HP:0002582 rdfs:label nl Chronische atrofische gastritis CANDIDATE +en Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue HP:0002582 IAO:0000115 nl Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue NOT_TRANSLATED +en Atrophic muscularis propria HP:0025149 rdfs:label nl Atrofische tunica muscularis CANDIDATE +en Atrophic pituitary gland HP:0410279 rdfs:label nl Atrophic pituitary gland NOT_TRANSLATED +en Atrophic scars HP:0001075 rdfs:label nl Atrofische littekens CANDIDATE +en Atrophic superior cerebellar peduncle HP:0030286 rdfs:label nl Atrophic superior cerebellar peduncle NOT_TRANSLATED +en Atrophic, patchy alopecia HP:0004529 rdfs:label nl Atrofische, onregelmatige alopecia CANDIDATE +en Atrophodermia vermiculata HP:0100837 rdfs:label nl Atrophoderma vermiculata CANDIDATE +en Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging HP:0007722 IAO:0000115 nl Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging NOT_TRANSLATED +en Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy HP:0011807 IAO:0000115 nl Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy NOT_TRANSLATED +en Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy HP:0003554 IAO:0000115 nl Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy NOT_TRANSLATED +en Atrophy (wasting) of the cerebellar cortex HP:0008278 IAO:0000115 nl Atrophy (wasting) of the cerebellar cortex NOT_TRANSLATED +en Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum HP:0002059 IAO:0000115 nl Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum NOT_TRANSLATED +en Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum HP:0006892 IAO:0000115 nl Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum NOT_TRANSLATED +en Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney HP:0033908 IAO:0000115 nl Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney NOT_TRANSLATED +en Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney HP:0033972 IAO:0000115 nl Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney NOT_TRANSLATED +en Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney HP:0033910 IAO:0000115 nl Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney NOT_TRANSLATED +en Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney HP:0033912 IAO:0000115 nl Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED +en Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord HP:0007263 IAO:0000115 nl Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord NOT_TRANSLATED +en Atrophy affecting the pons and the cerebellum HP:0006879 IAO:0000115 nl Atrophy affecting the pons and the cerebellum NOT_TRANSLATED +en Atrophy of alveolar ridges HP:0006308 rdfs:label nl Atrofie van de alveolaire ruggen CANDIDATE +en Atrophy of masseter muscle HP:0045085 rdfs:label nl Atrofie van musculus masseter CANDIDATE +en Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle HP:0100308 IAO:0000115 nl Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle NOT_TRANSLATED +en Atrophy of the capillary lamina of choroid HP:0030491 IAO:0000115 nl Atrophy of the capillary lamina of choroid NOT_TRANSLATED +en Atrophy of the cerebellum affecting primarily the Purkinje cell layer HP:0012082 IAO:0000115 nl Atrophy of the cerebellum affecting primarily the Purkinje cell layer NOT_TRANSLATED +en Atrophy of the cerebellum affecting primarily the granular cell layer HP:0012080 IAO:0000115 nl Atrophy of the cerebellum affecting primarily the granular cell layer NOT_TRANSLATED +en Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter HP:0012157 IAO:0000115 nl Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter NOT_TRANSLATED +en Atrophy of the cervical segment of the spinal cord HP:0010873 IAO:0000115 nl Atrophy of the cervical segment of the spinal cord NOT_TRANSLATED +en Atrophy of the choroid and retinal layers of the fundus HP:0000533 IAO:0000115 nl Atrophy of the choroid and retinal layers of the fundus NOT_TRANSLATED +en Atrophy of the cortex of the cerebrum HP:0002120 IAO:0000115 nl Atrophy of the cortex of the cerebrum NOT_TRANSLATED +en Atrophy of the cortex of the kidney HP:0002048 IAO:0000115 nl Atrophy of the cortex of the kidney NOT_TRANSLATED +en Atrophy of the dentate nucleus HP:0007047 rdfs:label nl Atrofie van de nucleus dentatus CANDIDATE +en Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes HP:0011916 IAO:0000115 nl Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes NOT_TRANSLATED +en Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease HP:0000667 IAO:0000115 nl Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease NOT_TRANSLATED +en Atrophy of the frontal cortex HP:0006913 IAO:0000115 nl Atrophy of the frontal cortex NOT_TRANSLATED +en Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones HP:0007181 IAO:0000115 nl Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones NOT_TRANSLATED +en Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles HP:0008954 IAO:0000115 nl Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles NOT_TRANSLATED +en Atrophy of the kidney HP:0012585 IAO:0000115 nl Atrophy of the kidney NOT_TRANSLATED +en Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid HP:0012241 IAO:0000115 nl Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid NOT_TRANSLATED +en Atrophy of the muscles of the ankle HP:0009031 IAO:0000115 nl Atrophy of the muscles of the ankle NOT_TRANSLATED +en Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle HP:0008946 IAO:0000115 nl Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle NOT_TRANSLATED +en Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle HP:0009060 IAO:0000115 nl Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle NOT_TRANSLATED +en Atrophy of the occipital cortex HP:0012105 IAO:0000115 nl Atrophy of the occipital cortex NOT_TRANSLATED +en Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy HP:0000648 IAO:0000115 nl Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy NOT_TRANSLATED +en Atrophy of the parietal cortex HP:0012104 IAO:0000115 nl Atrophy of the parietal cortex NOT_TRANSLATED +en Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius) HP:0009049 IAO:0000115 nl Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius) NOT_TRANSLATED +en Atrophy of the spinal cord HP:0006827 rdfs:label nl Atrofie van het ruggenmerg CANDIDATE +en Atrophy of the superior cerebellar peduncle HP:0030286 IAO:0000115 nl Atrophy of the superior cerebellar peduncle NOT_TRANSLATED +en Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe HP:0012242 IAO:0000115 nl Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe NOT_TRANSLATED +en Atrophy of the temporal cortex HP:0007112 IAO:0000115 nl Atrophy of the temporal cortex NOT_TRANSLATED +en Atrophy/Degeneration affecting the brainstem HP:0007366 rdfs:label nl Atrofie/degeneratie van de hersenstam CANDIDATE +en Atrophy/Degeneration affecting the central nervous system HP:0007367 rdfs:label nl Atrofie/degeneratie van het centrale zenuwstelsel CANDIDATE +en Atrophy/Degeneration affecting the cerebrum HP:0007369 rdfs:label nl Atrofie/degeneratie van het cerebrum CANDIDATE +en Atrophy/Degeneration involving the caudate nucleus HP:0007374 rdfs:label nl Atrofie/Degeneratie waarbij de nucleus caudatus betrokken is CANDIDATE +en Atrophy/Degeneration involving the corticospinal tracts HP:0007372 rdfs:label nl Atrofie/degeneratie waarbij de corticospinale banen betrokken zijn CANDIDATE +en Atrophy/Degeneration involving the spinal cord HP:0007344 rdfs:label nl Atrofie/Degeneratie waarbij het ruggenmerg betrokken is CANDIDATE +en Attached earlobe HP:0009907 rdfs:label nl Aangesloten oorlel CANDIDATE +en Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward HP:0009907 IAO:0000115 nl Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward NOT_TRANSLATED +en Attacks of disabling daytime drowsiness and low alertness HP:0002330 IAO:0000115 nl Attacks of disabling daytime drowsiness and low alertness NOT_TRANSLATED +en Attention deficit hyperactivity disorder HP:0007018 rdfs:label nl Aandachtstekort met hyperactiviteit (ADHD) CANDIDATE +en Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient HP:0007018 IAO:0000115 nl Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient NOT_TRANSLATED +en Attenuation of retinal blood vessels HP:0007843 rdfs:label nl Verzwakking van retinale bloedvaten CANDIDATE +en Atypical absence seizure HP:0007270 rdfs:label nl Atypische absence aanvallen CANDIDATE +en Atypical absence status epilepticus HP:0011151 rdfs:label nl Obtundatie status CANDIDATE +en Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure HP:0011151 IAO:0000115 nl Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure NOT_TRANSLATED +en Atypical elliptocytosis HP:0004822 rdfs:label nl Atypische elliptocytose CANDIDATE +en Atypical facial expressions HP:4000089 rdfs:label nl Atypical facial expressions NOT_TRANSLATED +en Atypical gestures HP:0034481 rdfs:label nl Atypical gestures NOT_TRANSLATED +en Atypical hyperphenylalaninemia HP:0004922 rdfs:label nl Atypische hyperfenylalaninemie CANDIDATE +en Atypical neurofibromatosis HP:0007524 rdfs:label nl Atypische neurofibromatose CANDIDATE +en Atypical nevi in non-sun exposed areas HP:0001074 rdfs:label nl Atypische naevi in niet-zon blootgestelde plekken CANDIDATE +en Atypical nevus HP:0001062 rdfs:label nl Atypische naevus CANDIDATE +en Atypical or prolonged hepatitis HP:0200122 rdfs:label nl Atypische of langdurige hepatitis CANDIDATE +en Atypical perifissural nodule HP:0033620 rdfs:label nl Atypical perifissural nodule NOT_TRANSLATED +en Atypical pulmonary carcinoid tumor HP:0030446 rdfs:label nl Atypisch pulmonaal carcinoïd CANDIDATE +en Atypical scarring of skin HP:0000987 rdfs:label nl Atypische littekenvorming van de huid CANDIDATE +en Atypical sorting HP:5200049 rdfs:label nl Atypisch sorteren OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Atypical teratoid/rhabdoid tumor HP:0034401 rdfs:label nl Atypical teratoid/rhabdoid tumor NOT_TRANSLATED +en Atypically scarred skin HP:0000987 IAO:0000115 nl Atypically scarred skin NOT_TRANSLATED +en Auditory hallucinations HP:0008765 rdfs:label nl Auditieve hallucinaties CANDIDATE +en Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events HP:0033346 IAO:0000115 nl Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events NOT_TRANSLATED +en Auricular pit HP:0030025 rdfs:label nl Auricular pit NOT_TRANSLATED +en Auricular tag HP:0030021 rdfs:label nl Auricular tag NOT_TRANSLATED +en Autism HP:0000717 rdfs:label nl Autisme CANDIDATE +en Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV) HP:0000717 IAO:0000115 nl Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV) NOT_TRANSLATED +en Autism with high cognitive abilities HP:0000753 rdfs:label nl Autisme met hoge cognitieve capaciteiten CANDIDATE +en Autistic behavior HP:0000729 rdfs:label nl Autistisch gedrag CANDIDATE +en Autoamputation HP:0001218 rdfs:label nl Auto-amputatie CANDIDATE +en Autoamputation of digits HP:0007460 rdfs:label nl Auto-amputatie van vingers/tenen CANDIDATE +en Autoamputation of foot HP:0001868 rdfs:label nl Auto-amputatie van de voet CANDIDATE +en Autoimmune antibody positivity HP:0030057 rdfs:label nl Auto-immune antistoffen positiviteit CANDIDATE +en Autoimmune hemolytic anemia HP:0001890 rdfs:label nl Auto-immune hemolytische anemie CANDIDATE +en Autoimmune hypoparathyroidism HP:0011771 rdfs:label nl Auto-immune hypoparathyreoïdie CANDIDATE +en Autoimmune thrombocytopenia HP:0001973 rdfs:label nl Auto-immune trombocytopenie CANDIDATE +en Autoimmunity HP:0002960 rdfs:label nl Autoimmuniteit CANDIDATE +en Automatic atrial tachycardia HP:0011700 rdfs:label nl Automatische atriale tachycardie CANDIDATE +en Autonomic bladder dysfunction HP:0005341 rdfs:label nl Autonome blaas dysfunctie CANDIDATE +en Autonomic epileptic aura HP:0033722 rdfs:label nl Autonomic epileptic aura NOT_TRANSLATED +en Autonomic erectile dysfunction HP:0008652 rdfs:label nl Autonome erectiestoornissen CANDIDATE +en Autonomic status epilepticus HP:0032672 rdfs:label nl Autonomic status epilepticus NOT_TRANSLATED +en Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal HP:0032672 IAO:0000115 nl Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal NOT_TRANSLATED +en Autophagic vacuoles HP:0003736 rdfs:label nl Autofagische vacuolen CANDIDATE +en Autosomal dominant inheritance HP:0000006 rdfs:label nl Autosomaal dominante overerving CANDIDATE +en Autosomal dominant inheritance with maternal imprinting HP:0012275 rdfs:label nl Autosomaal dominante overerving met maternale imprinting CANDIDATE +en Autosomal dominant inheritance with paternal imprinting HP:0012274 rdfs:label nl Autosomaal dominante overerving met paternale imprinting CANDIDATE +en Autosomal dominant somatic cell mutation HP:0001444 rdfs:label nl Autosomale dominante somatische celmutatie CANDIDATE +en Autosomal recessive inheritance HP:0000007 rdfs:label nl Autosomaal recessieve overerving CANDIDATE +en Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma HP:0020125 IAO:0000115 nl Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma NOT_TRANSLATED +en Avascular necrosis HP:0010885 rdfs:label nl Aseptische necrose CANDIDATE +en Avascular necrosis of the capital femoral epiphysis HP:0005743 rdfs:label nl Avasculaire necrose van de epifyse van femurkop CANDIDATE +en Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature HP:0005743 IAO:0000115 nl Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature NOT_TRANSLATED +en Average platelet volume above the upper limit of the normal reference interval HP:0011877 IAO:0000115 nl Average platelet volume above the upper limit of the normal reference interval NOT_TRANSLATED +en Average platelet volume below the lower limit of the normal reference interval HP:0005537 IAO:0000115 nl Average platelet volume below the lower limit of the normal reference interval NOT_TRANSLATED +en Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s) HP:0032942 IAO:0000115 nl Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s) NOT_TRANSLATED +en Avoidance of stimuli associated with traumatic event HP:0032942 rdfs:label nl Avoidance of stimuli associated with traumatic event NOT_TRANSLATED +en Avulsion fracture HP:4000052 rdfs:label nl Avulsion fracture NOT_TRANSLATED +en Avulsion fractured epiphysis of femur HP:0041091 rdfs:label nl Avulsion fractured epiphysis of femur NOT_TRANSLATED +en Avulsion fractured humerus HP:0041088 rdfs:label nl Avulsion fractured humerus NOT_TRANSLATED +en Avulsion fractured tibia HP:0041089 rdfs:label nl Avulsion fractured tibia NOT_TRANSLATED +en Axenfeld anomaly HP:0001492 rdfs:label nl Axenfeld syndroom CANDIDATE +en Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line HP:0001492 IAO:0000115 nl Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line NOT_TRANSLATED +en Axial HP:0025287 rdfs:label nl Axiaal CANDIDATE +en Axial dystonia HP:0002530 rdfs:label nl Axiale dystonie CANDIDATE +en Axial hypotonia HP:0008936 rdfs:label nl Musculaire hypotonie van de romp CANDIDATE +en Axial malrotation of the kidney HP:0004717 rdfs:label nl Axiale malrotatie van nier CANDIDATE +en Axial muscle atrophy HP:0040287 rdfs:label nl Axiale spieratrofie CANDIDATE +en Axial muscle stiffness HP:0006921 rdfs:label nl Axiale spierstijfheid CANDIDATE +en Axial muscle weakness HP:0003327 rdfs:label nl Axiale spierzwakte CANDIDATE +en Axial myopia HP:0031730 rdfs:label nl Axiale myopie CANDIDATE +en Axillary and groin hyperpigmentation and hypopigmentation HP:0007471 rdfs:label nl Axillaire en lies hyperpigmentatie en hypopigmentatie CANDIDATE +en Axillary apocrine gland hypoplasia HP:0007397 rdfs:label nl Hypoplasie van de axillaire apocrine klier CANDIDATE +en Axillary epidermoid cyst HP:0012540 rdfs:label nl Axillaire epidermoïde cyste CANDIDATE +en Axillary freckling HP:0000997 rdfs:label nl Axillaire sproeten CANDIDATE +en Axillary lymphadenopathy HP:0034752 rdfs:label nl Axillaire lymfadenopathie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Axillary pterygium HP:0001060 rdfs:label nl Axillaire pterygia CANDIDATE +en Axonal degeneration HP:0040078 rdfs:label nl Axonale degeneratie CANDIDATE +en Axonal degeneration/regeneration HP:0003378 rdfs:label nl Axonale degeneratie/regeneratie CANDIDATE +en Axonal loss HP:0003447 rdfs:label nl Axonaal verlies CANDIDATE +en Axonal regeneration HP:0003450 rdfs:label nl Axonale regeneratie CANDIDATE +en Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements HP:0034381 IAO:0000115 nl Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements NOT_TRANSLATED +en Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types HP:0033684 IAO:0000115 nl Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types NOT_TRANSLATED +en Azoospermia HP:0000027 rdfs:label nl Azoöspermie CANDIDATE +en Azotemia HP:0002157 rdfs:label nl Azotemie CANDIDATE +en B Acute Lymphoblastic Leukemia HP:0004812 rdfs:label nl Voorloper-B-Cel acute lymfatische leukemie CANDIDATE +en B lymphocytopenia HP:0010976 rdfs:label nl B lymfocytopenie CANDIDATE +en B-cell lymphoma HP:0012191 rdfs:label nl B-cell lymfoom CANDIDATE +en BCGitis HP:0020086 rdfs:label nl BCGitis NOT_TRANSLATED +en BCGosis HP:0020087 rdfs:label nl BCGosis NOT_TRANSLATED +en Babinski sign HP:0003487 rdfs:label nl Teken van Babinski CANDIDATE +en Back pain HP:0003418 rdfs:label nl Rugpijn CANDIDATE +en Bacteremia HP:0031864 rdfs:label nl Bacteremia NOT_TRANSLATED +en Bacteria allergy HP:0410322 rdfs:label nl Bacteria allergy NOT_TRANSLATED +en Bacteria in cerebrospinal fluid HP:0034429 rdfs:label nl Bacteria in cerebrospinal fluid NOT_TRANSLATED +en Bacterial cell casts HP:0031204 rdfs:label nl Bacteriële cilinders CANDIDATE +en Bacterial encephalitis HP:0034387 rdfs:label nl Bacterial encephalitis NOT_TRANSLATED +en Bacterial endocarditis HP:0006689 rdfs:label nl Bacteriële endocarditis CANDIDATE +en Bacteriuria HP:0012461 rdfs:label nl Bacteriurie CANDIDATE +en Balanced double aortic arch HP:0031562 rdfs:label nl Gebalanceerde dubbele aortaboog CANDIDATE +en Balanitis HP:0034438 rdfs:label nl Balanitis NOT_TRANSLATED +en Ballooning hepatocyte degeneration HP:0033193 rdfs:label nl Ballooning hepatocyte degeneration NOT_TRANSLATED +en Band keratopathy HP:0000585 rdfs:label nl Band-keratopathie CANDIDATE +en Band-shaped corneal dystrophy HP:0007709 rdfs:label nl Band-vormige cornea dystrofie CANDIDATE +en Bands of scar-like tisssue that hve formed within a cerebral ventricle HP:0100311 IAO:0000115 nl Bands of scar-like tisssue that hve formed within a cerebral ventricle NOT_TRANSLATED +en Barking cough HP:0033121 rdfs:label nl Barking cough NOT_TRANSLATED +en Barrel-shaped chest HP:0001552 rdfs:label nl Vat-vormige borst CANDIDATE +en Barrel-shaped tooth HP:0033779 rdfs:label nl Barrel-shaped tooth NOT_TRANSLATED +en Barrett esophagus HP:0100580 rdfs:label nl Barrett oesofagus CANDIDATE +en Bartholin gland carcinoma HP:0030419 rdfs:label nl Bartholin klier carcinoom CANDIDATE +en Basal cell carcinoma HP:0002671 rdfs:label nl Basaalcelcarcinoom CANDIDATE +en Basal encephalocele HP:0011817 rdfs:label nl Basale encefalocele CANDIDATE +en Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares HP:0011817 IAO:0000115 nl Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares NOT_TRANSLATED +en Basal ganglia calcification HP:0002135 rdfs:label nl Meningeale calcificatie CANDIDATE +en Basal ganglia cysts HP:0006799 rdfs:label nl Basale ganglia cysten CANDIDATE +en Basal ganglia edema HP:0025039 rdfs:label nl Basale ganglia oedeem CANDIDATE +en Basal ganglia gliosis HP:0006999 rdfs:label nl Basale ganglia gliose CANDIDATE +en Basal ganglia necrosis HP:0012128 rdfs:label nl Basale ganglia necrose CANDIDATE +en Basal lamina onion bulb formation HP:0003400 rdfs:label nl Lamina basalis 'onion bulb' formatie CANDIDATE +en Basalioma of the outer ear HP:0040098 rdfs:label nl Basalioom van het uitwendige oor CANDIDATE +en Basic constant esotropia HP:0031759 rdfs:label nl Basale (constante) esotropie CANDIDATE +en Basic constant exotropia HP:0032010 rdfs:label nl Basic constant exotropia NOT_TRANSLATED +en Basilar artery calcification HP:0031310 rdfs:label nl Arteria basilaris calcificatie CANDIDATE +en Basilar impression HP:0005758 rdfs:label nl Basilar impression NOT_TRANSLATED +en Basilar invagination HP:0012366 rdfs:label nl Basilaire invaginatie CANDIDATE +en Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria HP:0033046 IAO:0000115 nl Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria NOT_TRANSLATED +en Beaded ribs HP:0000923 rdfs:label nl Rozenkrans ribben CANDIDATE +en Beaded septum sign HP:0033654 rdfs:label nl Beaded septum sign NOT_TRANSLATED +en Beaded vitreous appearance HP:0031154 rdfs:label nl Beaded vitreous appearance NOT_TRANSLATED +en Beaked nails HP:0030817 rdfs:label nl Beaked nails NOT_TRANSLATED +en Beaking of vertebral bodies HP:0004568 rdfs:label nl Beknelling van wervellichamen CANDIDATE +en Beaking of vertebral bodies T12-L3 HP:0004562 rdfs:label nl Beknelling van wervellichamen T12-L3 CANDIDATE +en Beaten bronze macular sheen HP:0025147 rdfs:label nl Beaten bronze macular sheen NOT_TRANSLATED +en Beau's lines HP:0041093 rdfs:label nl Beau's lines NOT_TRANSLATED +en Beevor's sign HP:0030664 rdfs:label nl Beevor's sign NOT_TRANSLATED +en Behavior characterized by an abnormal limitation to few interests and activities HP:0000723 IAO:0000115 nl Behavior characterized by an abnormal limitation to few interests and activities NOT_TRANSLATED +en Behavior that is not in line with social norms HP:0030220 IAO:0000115 nl Behavior that is not in line with social norms NOT_TRANSLATED +en Behavioral abnormality HP:0000708 rdfs:label nl Gedragsabnormaliteit CANDIDATE +en Being confined or restricted to a particular location HP:0012838 IAO:0000115 nl Being confined or restricted to a particular location NOT_TRANSLATED +en Being located on the left side of the body HP:0012835 IAO:0000115 nl Being located on the left side of the body NOT_TRANSLATED +en Being located on the right side of the body HP:0012834 IAO:0000115 nl Being located on the right side of the body NOT_TRANSLATED +en Being present on both sides of the body HP:0012832 IAO:0000115 nl Being present on both sides of the body NOT_TRANSLATED +en Being present on only the left or only the right side of the body HP:0012833 IAO:0000115 nl Being present on only the left or only the right side of the body NOT_TRANSLATED +en Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body HP:0001444 IAO:0000115 nl Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body NOT_TRANSLATED +en Being unable to focus one's attention or mental effort on a particular object or activity HP:0031987 IAO:0000115 nl Being unable to focus one's attention or mental effort on a particular object or activity NOT_TRANSLATED +en Bell-shaped thorax HP:0001591 rdfs:label nl Klokvormige thorax CANDIDATE +en Bence Jones Proteinuria HP:0030156 rdfs:label nl Bence Jones Proteïnurie CANDIDATE +en Bending of the diaphysis (shaft) of the ulna HP:0003031 IAO:0000115 nl Bending of the diaphysis (shaft) of the ulna NOT_TRANSLATED +en Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe) HP:0001864 IAO:0000115 nl Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED +en Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly HP:0009466 IAO:0000115 nl Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly NOT_TRANSLATED +en Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly HP:0009465 IAO:0000115 nl Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly NOT_TRANSLATED +en Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe) HP:0011918 IAO:0000115 nl Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED +en Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe) HP:0005824 IAO:0000115 nl Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED +en Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe) HP:0008115 IAO:0000115 nl Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED +en Bending or curvature of a thumb towards the ulnar side (towards the ring finger) HP:0006156 IAO:0000115 nl Bending or curvature of a thumb towards the ulnar side (towards the ring finger) NOT_TRANSLATED +en Bending or curvature of a toe in the tibial direction (i.e., towards the big toe) HP:0001863 IAO:0000115 nl Bending or curvature of a toe in the tibial direction (i.e., towards the big toe) NOT_TRANSLATED +en Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger) HP:0005769 IAO:0000115 nl Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger) NOT_TRANSLATED +en Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit HP:0004464 IAO:0000115 nl Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit NOT_TRANSLATED +en Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit HP:0008606 IAO:0000115 nl Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit NOT_TRANSLATED +en Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit HP:0100277 IAO:0000115 nl Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit NOT_TRANSLATED +en Benign gastrointestinal tract tumors HP:0006719 rdfs:label nl Benigne gastro-intestinale tumoren CANDIDATE +en Benign genitourinary tract neoplasm HP:0006778 rdfs:label nl Goedaardige urogenitale gezwellen CANDIDATE +en Benign muscle neoplasm HP:0031460 rdfs:label nl Benigne spier neoplasma CANDIDATE +en Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous HP:0012032 IAO:0000115 nl Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous NOT_TRANSLATED +en Benign neoplasm of the central nervous system HP:0100835 rdfs:label nl Benigne neoplasma van het centrale zenuwstelsel CANDIDATE +en Benign prostatic hyperplasia HP:0008711 rdfs:label nl Benigne prostaat hyperplasia CANDIDATE +en Benign tumor of the nasolacrimal sac HP:0500036 IAO:0000115 nl Benign tumor of the nasolacrimal sac NOT_TRANSLATED +en Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine HP:0100245 IAO:0000115 nl Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine NOT_TRANSLATED +en Benzodiazepine addiction HP:0033516 rdfs:label nl Benzodiazepine addiction NOT_TRANSLATED +en Best corrected visual acuity 0.1 LogMAR HP:0030554 rdfs:label nl Best-gecorrigeerde visus 0.1 LogMAR CANDIDATE +en Best corrected visual acuity 0.2 LogMAR HP:0030555 rdfs:label nl Best-gecorrigeerde visus 0.2 LogMAR CANDIDATE +en Best corrected visual acuity 0.3 LogMAR HP:0030556 rdfs:label nl Best-gecorrigeerde visus 0.3 LogMAR CANDIDATE +en Best corrected visual acuity 0.4 LogMAR HP:0030557 rdfs:label nl Best-gecorrigeerde visus 0.4 LogMAR CANDIDATE +en Best corrected visual acuity 0.5 LogMAR HP:0030558 rdfs:label nl Best-gecorrigeerde visus 0.5 LogMAR CANDIDATE +en Best corrected visual acuity 0.6 LogMAR HP:0030560 rdfs:label nl Best-gecorrigeerde visus 0.6 LogMAR CANDIDATE +en Best corrected visual acuity 0.7 LogMAR HP:0030559 rdfs:label nl Best-gecorrigeerde visus 0.7 LogMAR CANDIDATE +en Best corrected visual acuity 0.8 LogMAR HP:0030561 rdfs:label nl Best-gecorrigeerde visus 0.8 LogMAR CANDIDATE +en Best corrected visual acuity 0.9 LogMAR HP:0030562 rdfs:label nl Best-gecorrigeerde visus 0.9 LogMAR CANDIDATE +en Best corrected visual acuity 1.0 LogMAR HP:0030563 rdfs:label nl Best-gecorrigeerde visus 1.0 LogMAR CANDIDATE +en Best corrected visual acuity 1.1 LogMAR HP:0030564 rdfs:label nl Best-gecorrigeerde visus 1.1 LogMAR CANDIDATE +en Best corrected visual acuity 1.2 LogMAR HP:0030565 rdfs:label nl Best-gecorrigeerde visus 1.2 LogMAR CANDIDATE +en Best corrected visual acuity 1.3 LogMAR HP:0030566 rdfs:label nl Best-gecorrigeerde visus 1.3 LogMAR CANDIDATE +en Best corrected visual acuity 2.0 LogMAR HP:0030567 rdfs:label nl Best-gecorrigeerde visus 2.0 LogMAR CANDIDATE +en Best corrected visual acuity 3.0 LogMAR HP:0030568 rdfs:label nl Best-gecorrigeerde visus 3.0 LogMAR CANDIDATE +en Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590) HP:0032123 IAO:0000115 nl Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590) NOT_TRANSLATED +en Beta 2-microglobulinuria HP:0025466 rdfs:label nl Bèta-2-microglobulinurie CANDIDATE +en Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis HP:0020153 IAO:0000115 nl Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis NOT_TRANSLATED +en Beta-EEG HP:0011179 rdfs:label nl Beta-EEG CANDIDATE +en Beta-alaninuria HP:0020079 rdfs:label nl Beta-alaninuria NOT_TRANSLATED +en Beta-aminoisobutyric aciduria HP:0032480 rdfs:label nl Beta-aminoisobutyric aciduria NOT_TRANSLATED +en Beta-cell dysfunction HP:0006279 rdfs:label nl Beta-cel dysfunctie CANDIDATE +en Bethlem sign HP:0030233 rdfs:label nl Bethlem sign NOT_TRANSLATED +en Bicarbonate-wasting renal tubular acidosis HP:0004910 rdfs:label nl Bicarbonaat-verliezende renale tubulaire acidose CANDIDATE +en Bicarbonaturia HP:0003646 rdfs:label nl Bicarbonaturie CANDIDATE +en Biceps aplasia HP:0009783 rdfs:label nl Biceps aplasie CANDIDATE +en Biceps areflexia HP:0033230 rdfs:label nl Biceps areflexia NOT_TRANSLATED +en Biceps hyperreflexia HP:0033205 rdfs:label nl Biceps hyperreflexia NOT_TRANSLATED +en Biceps hypoplasia HP:0009007 rdfs:label nl Biceps hypoplasie CANDIDATE +en Biceps hyporeflexia HP:0033201 rdfs:label nl Biceps hyporeflexia NOT_TRANSLATED +en Biconcave flattened vertebrae HP:0003321 rdfs:label nl Biconcave afgevlakte wervels CANDIDATE +en Biconcave vertebral bodies HP:0004586 rdfs:label nl Biconcave wervellichamen CANDIDATE +en Biconvex vertebral bodies HP:0004625 rdfs:label nl Biconvexe wervellichamen CANDIDATE +en Bicornuate uterus HP:0000813 rdfs:label nl Y-vormige baarmoeder CANDIDATE +en Bicoronal synostosis HP:0011318 rdfs:label nl Bicoronale synostose CANDIDATE +en Bicuspid aortic valve HP:0001647 rdfs:label nl Bicuspidale aortaklep CANDIDATE +en Bicuspid aortic valve with left-noncoronary cusp fusion HP:0031121 rdfs:label nl Bicuspid aortic valve with left-noncoronary cusp fusion NOT_TRANSLATED +en Bicuspid aortic valve with right-left cusp fusion HP:0031119 rdfs:label nl Bicuspid aortic valve with right-left cusp fusion NOT_TRANSLATED +en Bicuspid aortic valve with right-noncoronary cusp fusion HP:0031120 rdfs:label nl Bicuspid aortic valve with right-noncoronary cusp fusion NOT_TRANSLATED +en Bicuspid pulmonary valve HP:0005182 rdfs:label nl Bicuspide pulmonale klep CANDIDATE +en Bidirectional shunt HP:0012383 rdfs:label nl Bidirectionele shunt CANDIDATE +en Bidirectional ventricular ectopy HP:0005147 rdfs:label nl Bidirectionele ventriculaire ectopie CANDIDATE +en Bidirectional ventricular tachycardia HP:0034040 rdfs:label nl Bidirectional ventricular tachycardia NOT_TRANSLATED +en Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm HP:0034040 IAO:0000115 nl Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm NOT_TRANSLATED +en Bifid antitragus HP:0011250 rdfs:label nl Bifide antitragus CANDIDATE +en Bifid clitoris HP:0030911 rdfs:label nl Bifide clitoris CANDIDATE +en Bifid distal phalanx of the thumb HP:0009611 rdfs:label nl Bifide distale falanx van de duim CANDIDATE +en Bifid distal phalanx of toe HP:0001853 rdfs:label nl Bifide distale falanx van teen CANDIDATE +en Bifid epiglottis HP:0010564 rdfs:label nl Bifide epiglottis CANDIDATE +en Bifid femur HP:0010443 rdfs:label nl Bifide femur CANDIDATE +en Bifid first metacarpal HP:0009616 rdfs:label nl Bifide eerste metacarpaal CANDIDATE +en Bifid humerus HP:0003864 rdfs:label nl Bifide humerus CANDIDATE +en Bifid nail HP:0010793 rdfs:label nl Bifide nagel CANDIDATE +en Bifid nasal tip HP:0000456 rdfs:label nl Gespleten neuspunt CANDIDATE +en Bifid nose HP:0011803 rdfs:label nl Bifide neus CANDIDATE +en Bifid penis HP:0100599 rdfs:label nl Bifide penis CANDIDATE +en Bifid proximal phalanx of the thumb HP:0009614 rdfs:label nl Bifide proximale falanx van de duim CANDIDATE +en Bifid ribs HP:0000892 rdfs:label nl Gespleten ribben CANDIDATE +en Bifid sacrum HP:0009791 rdfs:label nl Bifide sacrum CANDIDATE +en Bifid scrotum HP:0000048 rdfs:label nl Bifide scrotum CANDIDATE +en Bifid sternum HP:0010309 rdfs:label nl Bifide sternum CANDIDATE +en Bifid thoracic vertebrae HP:0008437 rdfs:label nl Bifide thoracale wervels CANDIDATE +en Bifid tongue HP:0010297 rdfs:label nl Bifide tong CANDIDATE +en Bifid tragus HP:0011269 rdfs:label nl Bifide tragus CANDIDATE +en Bifid ureter HP:0030037 rdfs:label nl Bifide ureter CANDIDATE +en Bifid uterus HP:0000136 rdfs:label nl Bifide uterus CANDIDATE +en Bifid uvula HP:0000193 rdfs:label nl Gespleten huig CANDIDATE +en Bifid xiphoid process HP:0100891 rdfs:label nl Bifide processus xiphoideus CANDIDATE +en Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective) HP:0012802 IAO:0000115 nl Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective) NOT_TRANSLATED +en Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective) HP:0012801 IAO:0000115 nl Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective) NOT_TRANSLATED +en Bilambdoid synostosis HP:0011319 rdfs:label nl Bilambdoid synostosis NOT_TRANSLATED +en Bilateral HP:0012832 rdfs:label nl Bilateraal CANDIDATE +en Bilateral absence (atresia) of the posterior nasal aperture (choana) HP:0004502 IAO:0000115 nl Bilateral absence (atresia) of the posterior nasal aperture (choana) NOT_TRANSLATED +en Bilateral alveolar cleft of maxilla HP:0410034 rdfs:label nl Bilaterale alveolaire schisis van maxilla CANDIDATE +en Bilateral apical pulmonary fibrosis HP:0033539 rdfs:label nl Bilateral apical pulmonary fibrosis NOT_TRANSLATED +en Bilateral asymmetric neonatal sequential seizure HP:0032837 rdfs:label nl Bilateral asymmetric neonatal sequential seizure NOT_TRANSLATED +en Bilateral basal ganglia lesions HP:0007146 rdfs:label nl Bilaterale basale ganglia laesies CANDIDATE +en Bilateral basilar pulmonary fibrosis HP:0550005 rdfs:label nl Bilateral basilar pulmonary fibrosis NOT_TRANSLATED +en Bilateral breast hypoplasia HP:0012814 rdfs:label nl Bilaterale borst hypoplasie CANDIDATE +en Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline HP:0002007 IAO:0000115 nl Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline NOT_TRANSLATED +en Bilateral camptodactyly HP:0005617 rdfs:label nl Bilaterale camptodactylie CANDIDATE +en Bilateral choanal atresia HP:0004502 rdfs:label nl Bilaterale choane-atresie CANDIDATE +en Bilateral choanal atresia/stenosis HP:0200138 rdfs:label nl Bilaterale choanen atresie/stenose CANDIDATE +en Bilateral cleft lip HP:0100336 rdfs:label nl Bilaterale gespleten lip CANDIDATE +en Bilateral cleft lip and palate HP:0002744 rdfs:label nl Bilaterale gespleten lip en gehemelte CANDIDATE +en Bilateral cleft palate HP:0100337 rdfs:label nl Bilaterale gespleten gehemelte CANDIDATE +en Bilateral clubfoot deformity HP:0001776 IAO:0000115 nl Bilateral clubfoot deformity NOT_TRANSLATED +en Bilateral conductive hearing impairment HP:0008513 rdfs:label nl Bilaterale conductieve slechthorendheid CANDIDATE +en Bilateral congenital mydriasis HP:0007932 rdfs:label nl Bilaterale congenitale mydriasis CANDIDATE +en Bilateral coxa valga HP:0010665 rdfs:label nl Bilaterale coxa valga CANDIDATE +en Bilateral cryptorchidism HP:0008689 rdfs:label nl Bilateraal cryptorchisme CANDIDATE +en Bilateral ductus arteriosus HP:0011650 rdfs:label nl Bilaterale ductus arteriosus CANDIDATE +en Bilateral elbow dislocations HP:0005021 rdfs:label nl Bilaterale elleboog dislocaties CANDIDATE +en Bilateral facial palsy HP:0430025 rdfs:label nl Bilaterale facialis parese CANDIDATE +en Bilateral fetal pyelectasis HP:0011129 rdfs:label nl Bilaterale foetale pyelectasie CANDIDATE +en Bilateral generalized polymicrogyria HP:0032410 rdfs:label nl Bilateral generalized polymicrogyria NOT_TRANSLATED +en Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing HP:0007024 IAO:0000115 nl Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing NOT_TRANSLATED +en Bilateral intracerebral calcifications HP:0005671 rdfs:label nl Bilaterale intracraniële calcificaties CANDIDATE +en Bilateral lack of development of the lungs HP:0005944 IAO:0000115 nl Bilateral lack of development of the lungs NOT_TRANSLATED +en Bilateral lung agenesis HP:0005944 rdfs:label nl Bilaterale longagenesie CANDIDATE +en Bilateral microphthalmos HP:0007633 rdfs:label nl Bilaterale microftalmie CANDIDATE +en Bilateral multifocal epileptiform discharges HP:0011189 rdfs:label nl Bilaterale multifocale epileptiforme ontladingen CANDIDATE +en Bilateral perisylvian polymicrogyria HP:0032407 rdfs:label nl Bilateral perisylvian polymicrogyria NOT_TRANSLATED +en Bilateral polymicrogyria HP:0025646 rdfs:label nl Bilateral polymicrogyria NOT_TRANSLATED +en Bilateral postaxial polydactyly HP:0006136 rdfs:label nl Bilaterale postaxiale polydactylie CANDIDATE +en Bilateral ptosis HP:0001488 rdfs:label nl Bilaterale ptosis CANDIDATE +en Bilateral radial aplasia HP:0004977 rdfs:label nl Bilaterale aplasie van de radius CANDIDATE +en Bilateral renal agenesis HP:0010958 rdfs:label nl Bilaterale nieragenesie CANDIDATE +en Bilateral renal atrophy HP:0012586 rdfs:label nl Bilaterale renale atrofie CANDIDATE +en Bilateral renal dysplasia HP:0012582 rdfs:label nl Bilaterale renale dysplasie CANDIDATE +en Bilateral renal hypoplasia HP:0012584 rdfs:label nl Bilaterale renale hypoplasie CANDIDATE +en Bilateral sensorineural hearing impairment HP:0008619 rdfs:label nl Bilaterale perceptieve slechthorendheid CANDIDATE +en Bilateral single transverse palmar creases HP:0007598 rdfs:label nl Bilaterale enkele handlijn CANDIDATE +en Bilateral superior vena cava HP:0033379 rdfs:label nl Bilateral superior vena cava NOT_TRANSLATED +en Bilateral superior vena cava with bridging vein HP:0011667 rdfs:label nl Bilateral superior vena cava with bridging vein NOT_TRANSLATED +en Bilateral superior vena cava with no bridging vein HP:0011668 rdfs:label nl Bilateral superior vena cava with no bridging vein NOT_TRANSLATED +en Bilateral symmetric neonatal sequential seizure HP:0032839 rdfs:label nl Bilateral symmetric neonatal sequential seizure NOT_TRANSLATED +en Bilateral talipes equinovarus HP:0001776 rdfs:label nl Bilaterale talipes equinovarus CANDIDATE +en Bilateral temporal scarlike defects, which are said to resemble forceps marks HP:0011336 IAO:0000115 nl Bilateral temporal scarlike defects, which are said to resemble forceps marks NOT_TRANSLATED +en Bilateral tonic-clonic seizure HP:0002069 rdfs:label nl Gegeneraliseerde tonisch-clonische insulten CANDIDATE +en Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day) HP:0007193 IAO:0000115 nl Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day) NOT_TRANSLATED +en Bilateral tonic-clonic seizure on awakening HP:0007193 rdfs:label nl Gegeneraliseerde tonisch-clonische aanvallen bij ontwaken CANDIDATE +en Bilateral tonic-clonic seizure with focal onset HP:0007334 rdfs:label nl Gegeneraliseerde tonisch-clonische aanvallen met focaal begin CANDIDATE +en Bilateral tonic-clonic seizure with generalized onset HP:0025190 rdfs:label nl Gegeneraliseerde tonisch-clonische aanvallen met focaal begin CANDIDATE +en Bilateral trilobed lung HP:0011861 rdfs:label nl Bilaterale drielobbige longen CANDIDATE +en Bilateral triphalangeal thumbs HP:0005707 rdfs:label nl Bilaterale triphalangeale duimen CANDIDATE +en Bilateral ulnar hypoplasia HP:0005648 rdfs:label nl Bilaterale ulnaire hypoplasie CANDIDATE +en Bilateral vertebral artery hypoplasia HP:0030324 rdfs:label nl Bilaterale arteria vertebralis hypoplasie CANDIDATE +en Bilateral vestibular schwannoma HP:0009589 rdfs:label nl Bilateraal vestibulair schwannoom CANDIDATE +en Bilateral vocal cord paralysis HP:0012820 rdfs:label nl Bilaterale stembandverlamming CANDIDATE +en Bilateral vocal cord paresis HP:0012822 rdfs:label nl Bilaterale stemband parese CANDIDATE +en Bilateral wrist flexion contracture HP:0012453 rdfs:label nl Bilaterale pols flexiecontractuur CANDIDATE +en Bile duct polyp HP:0034352 rdfs:label nl Bile duct polyp NOT_TRANSLATED +en Bile duct proliferation HP:0001408 rdfs:label nl Galkanaalproliferatie CANDIDATE +en Bile thrombi that form an obstruction (plug) in a dilated bile duct HP:0034294 IAO:0000115 nl Bile thrombi that form an obstruction (plug) in a dilated bile duct NOT_TRANSLATED +en Biliary atresia HP:0005912 rdfs:label nl Biliaire atresie CANDIDATE +en Biliary cirrhosis HP:0002613 rdfs:label nl Biliaire cirrose CANDIDATE +en Biliary dyskinesia HP:0012396 rdfs:label nl Biliaire dyskinesie CANDIDATE +en Biliary epithelial hyperplasia HP:0030986 rdfs:label nl Biliaire epitheliale hyperplasie CANDIDATE +en Biliary hyperplasia HP:0006560 rdfs:label nl Biliaire hyperplasie CANDIDATE +en Biliary tract abnormality HP:0001080 rdfs:label nl Afwijking van de galwegen CANDIDATE +en Biliary tract neoplasm HP:0100574 rdfs:label nl Neoplasma van de galwegen CANDIDATE +en Biliary tract obstruction HP:0005230 rdfs:label nl Obstructie van de galwegen CANDIDATE +en Bilineage myelodysplasia HP:0012149 rdfs:label nl Myelodysplasie van twee cellijnen CANDIDATE +en Bilingual aphasia HP:0033849 rdfs:label nl Bilingual aphasia NOT_TRANSLATED +en Bilirubinuria HP:0031811 rdfs:label nl Bilirubinuria NOT_TRANSLATED +en Bilobate gallbladder HP:0005608 rdfs:label nl Bilobate gallbladder NOT_TRANSLATED +en Bilobed right lung HP:0033183 rdfs:label nl Bilobed right lung NOT_TRANSLATED +en Bimanual synkinesia HP:0001335 rdfs:label nl Bimanale synkinesis CANDIDATE +en Binasal hemianopia HP:0030520 rdfs:label nl Binasale hemianopsie CANDIDATE +en Binucleated visceral epithelial cells HP:0033296 rdfs:label nl Binucleated visceral epithelial cells NOT_TRANSLATED +en Biparietal narrowing HP:0004422 rdfs:label nl Bipariëtale versmalling CANDIDATE +en Bipartite calcaneus HP:0008127 rdfs:label nl Calcaneus bipartita CANDIDATE +en Bipartite patella HP:0010498 rdfs:label nl Patella bipartita CANDIDATE +en Bipedal edema HP:0033045 rdfs:label nl Bipedal edema NOT_TRANSLATED +en Biphenotypic acute leukemia HP:0005531 rdfs:label nl Bifenotypische acute leukemie CANDIDATE +en Bipolar affective disorder HP:0007302 rdfs:label nl Bipolaire stoornis CANDIDATE +en Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy HP:0031872 IAO:0000115 nl Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy NOT_TRANSLATED +en Bird-like facies HP:0000320 rdfs:label nl Vogelachtig gelaat CANDIDATE +en Birdshot retinochoroidopathy HP:0030952 rdfs:label nl Birdshot choroïdale leasies CANDIDATE +en Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney HP:0032959 IAO:0000115 nl Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney NOT_TRANSLATED +en Birth at 32 to 36 completed weeks of gestation HP:0025664 IAO:0000115 nl Birth at 32 to 36 completed weeks of gestation NOT_TRANSLATED +en Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation) HP:0025665 IAO:0000115 nl Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation) NOT_TRANSLATED +en Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks) HP:0025666 IAO:0000115 nl Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks) NOT_TRANSLATED +en Birth history HP:0033623 rdfs:label nl Birth history NOT_TRANSLATED +en Birth length greater than 97th percentile HP:0003517 rdfs:label nl Geboorte lengte groter dan 97ste percentiel CANDIDATE +en Birth length less than 3rd percentile HP:0003561 rdfs:label nl Geboorte lengte kleiner dan 3e percentiel CANDIDATE +en Bite cells HP:0020122 rdfs:label nl Bite cells NOT_TRANSLATED +en Bitemporal forceps marks HP:0011336 rdfs:label nl Bitemporal forceps marks NOT_TRANSLATED +en Bitemporal hemianopia HP:0030521 rdfs:label nl Bitemporale hemianopsie CANDIDATE +en Bitemporal hollowing HP:0025386 rdfs:label nl Bitemporale hollowing CANDIDATE +en Bitot spots of the conjunctiva HP:0007462 rdfs:label nl Bitot-vlekken van de conconjunctiva CANDIDATE +en Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection HP:0011550 rdfs:label nl Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection NOT_TRANSLATED +en Biventricular hypertrophy HP:0200128 rdfs:label nl Biventriculaire hypertrofie CANDIDATE +en Biventricular noncompaction cardiomyopathy HP:0012818 rdfs:label nl Biventriculaire non-compactie cardiomyopathie CANDIDATE +en Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective) HP:0000275 IAO:0000115 nl Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective) NOT_TRANSLATED +en Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective) HP:0000283 IAO:0000115 nl Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective) NOT_TRANSLATED +en Black pigment gallstones HP:0011982 rdfs:label nl Zwart pigment galstenen CANDIDATE +en Bladder carcinoma HP:0002862 rdfs:label nl Blaas carcinoom CANDIDATE +en Bladder diverticulum HP:0000015 rdfs:label nl Blaas diverticulum CANDIDATE +en Bladder duplication HP:0025489 rdfs:label nl Blaas duplicatie CANDIDATE +en Bladder exstrophy HP:0002836 rdfs:label nl Blaasexstrofie CANDIDATE +en Bladder fistula HP:0004321 rdfs:label nl Blaas fistel CANDIDATE +en Bladder neoplasm HP:0009725 rdfs:label nl Blaas neoplasma CANDIDATE +en Bladder outlet obstruction HP:0041047 rdfs:label nl Bladder outlet obstruction NOT_TRANSLATED +en Bladder pain HP:0032171 rdfs:label nl Bladder pain NOT_TRANSLATED +en Bladder polyp HP:0031261 rdfs:label nl Blaas poliep CANDIDATE +en Bladder stones HP:0010474 rdfs:label nl Blaas stenen CANDIDATE +en Bladder trabeculation HP:0032465 rdfs:label nl Bladder trabeculation NOT_TRANSLATED +en Blake's pouch cyst HP:0033140 rdfs:label nl Blake's pouch cyst NOT_TRANSLATED +en Blebbing of apical cytoplasm of renal tubular epithelial cells HP:0032598 rdfs:label nl Blebbing of apical cytoplasm of renal tubular epithelial cells NOT_TRANSLATED +en Bleeding at irregular intervals HP:0100608 IAO:0000115 nl Bleeding at irregular intervals NOT_TRANSLATED +en Bleeding beneath the mucous membrane that lines the inner surface of the eyelid HP:0011896 IAO:0000115 nl Bleeding beneath the mucous membrane that lines the inner surface of the eyelid NOT_TRANSLATED +en Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation HP:0025582 IAO:0000115 nl Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation NOT_TRANSLATED +en Bleeding during sex HP:0034266 IAO:0000115 nl Bleeding during sex NOT_TRANSLATED +en Bleeding from the intestines HP:0002584 IAO:0000115 nl Bleeding from the intestines NOT_TRANSLATED +en Bleeding from the small intestine HP:0012849 IAO:0000115 nl Bleeding from the small intestine NOT_TRANSLATED +en Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels HP:0030657 IAO:0000115 nl Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels NOT_TRANSLATED +en Bleeding from vessels of the various tissues of the eye HP:0011885 IAO:0000115 nl Bleeding from vessels of the various tissues of the eye NOT_TRANSLATED +en Bleeding in the anterior chamber of the eye HP:0011886 IAO:0000115 nl Bleeding in the anterior chamber of the eye NOT_TRANSLATED +en Bleeding in the thalamus HP:0025064 IAO:0000115 nl Bleeding in the thalamus NOT_TRANSLATED +en Bleeding into the biliary tree HP:0100762 IAO:0000115 nl Bleeding into the biliary tree NOT_TRANSLATED +en Bleeding into the ventricles of the brain HP:0030746 IAO:0000115 nl Bleeding into the ventricles of the brain NOT_TRANSLATED +en Bleeding occuring within a muscle HP:0040242 IAO:0000115 nl Bleeding occuring within a muscle NOT_TRANSLATED +en Bleeding occurring within the fovea HP:0025581 IAO:0000115 nl Bleeding occurring within the fovea NOT_TRANSLATED +en Bleeding occurring within the macula lutea of the retina HP:0025574 IAO:0000115 nl Bleeding occurring within the macula lutea of the retina NOT_TRANSLATED +en Bleeding requiring red cell transfusion HP:0011888 rdfs:label nl Bloeding die erytrocytentransfusie vereist CANDIDATE +en Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4) HP:0011888 IAO:0000115 nl Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4) NOT_TRANSLATED +en Bleeding that persists for a longer than usual time following circumcision HP:0030137 IAO:0000115 nl Bleeding that persists for a longer than usual time following circumcision NOT_TRANSLATED +en Bleeding that persists longer than the normal time following a surgical procedure HP:0004846 IAO:0000115 nl Bleeding that persists longer than the normal time following a surgical procedure NOT_TRANSLATED +en Bleeding with minor or no trauma HP:0011889 rdfs:label nl Bloeding met klein of geen trauma CANDIDATE +en Bleeding within the fundus of the eye HP:0031803 IAO:0000115 nl Bleeding within the fundus of the eye NOT_TRANSLATED +en Bleeding within the vitreous compartment of the eye HP:0007902 IAO:0000115 nl Bleeding within the vitreous compartment of the eye NOT_TRANSLATED +en Blepharitis HP:0000498 rdfs:label nl Blefaritis CANDIDATE +en Blepharochalasis HP:0010749 rdfs:label nl Blepharochalasis CANDIDATE +en Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads HP:0010749 IAO:0000115 nl Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads NOT_TRANSLATED +en Blepharophimosis HP:0000581 rdfs:label nl Blefarofimomis CANDIDATE +en Blepharospasm HP:0000643 rdfs:label nl Blefarospasme CANDIDATE +en Blind vagina HP:0040314 rdfs:label nl Blinde vagina CANDIDATE +en Blind-spot enlargment HP:0030644 rdfs:label nl Blinde vlek vergroting CANDIDATE +en Blindness HP:0000618 rdfs:label nl Blindheid CANDIDATE +en Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation HP:0000618 IAO:0000115 nl Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation NOT_TRANSLATED +en Blindness with onset at birth HP:0007875 IAO:0000115 nl Blindness with onset at birth NOT_TRANSLATED +en Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur HP:0033800 IAO:0000115 nl Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur NOT_TRANSLATED +en Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa HP:0033801 IAO:0000115 nl Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa NOT_TRANSLATED +en Blistering by anatomical location HP:0033800 rdfs:label nl Blistering by anatomical location NOT_TRANSLATED +en Blistering by histological location HP:0033801 rdfs:label nl Blistering by histological location NOT_TRANSLATED +en Blisters arising in the mouth HP:0200097 IAO:0000115 nl Blisters arising in the mouth NOT_TRANSLATED +en Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches HP:0011710 IAO:0000115 nl Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches NOT_TRANSLATED +en Block vertebrae HP:0003305 rdfs:label nl Blok wervel CANDIDATE +en Blockade of impulses at a focal site along the course of a motor axon HP:0012078 IAO:0000115 nl Blockade of impulses at a focal site along the course of a motor axon NOT_TRANSLATED +en Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle HP:0030735 IAO:0000115 nl Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle NOT_TRANSLATED +en Blockage of a branch of the retinal artery. This can cause loss of a section of visual field HP:0020161 IAO:0000115 nl Blockage of a branch of the retinal artery. This can cause loss of a section of visual field NOT_TRANSLATED +en Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels HP:0020165 IAO:0000115 nl Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels NOT_TRANSLATED +en Blockage of blood flow through an artery HP:0025324 IAO:0000115 nl Blockage of blood flow through an artery NOT_TRANSLATED +en Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction HP:0031041 IAO:0000115 nl Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction NOT_TRANSLATED +en Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina HP:0007985 IAO:0000115 nl Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina NOT_TRANSLATED +en Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers HP:0020163 IAO:0000115 nl Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers NOT_TRANSLATED +en Blockage of the external auditory canal by a buildup of earwax HP:0030788 IAO:0000115 nl Blockage of the external auditory canal by a buildup of earwax NOT_TRANSLATED +en Blockage of the flow of urine from the bladder into the urethra HP:0034378 IAO:0000115 nl Blockage of the flow of urine from the bladder into the urethra NOT_TRANSLATED +en Blockage of the lacrimal duct HP:0000579 IAO:0000115 nl Blockage of the lacrimal duct NOT_TRANSLATED +en Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss HP:0025342 IAO:0000115 nl Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss NOT_TRANSLATED +en Blockage of the nasolacrimal sac HP:0500034 IAO:0000115 nl Blockage of the nasolacrimal sac NOT_TRANSLATED +en Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina HP:0025326 IAO:0000115 nl Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina NOT_TRANSLATED +en Blockage of the retinal vein HP:0012636 IAO:0000115 nl Blockage of the retinal vein NOT_TRANSLATED +en Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress HP:0005945 IAO:0000115 nl Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress NOT_TRANSLATED +en Blockage of urine flow from the renal pelvis to the proximal ureter HP:0000074 IAO:0000115 nl Blockage of urine flow from the renal pelvis to the proximal ureter NOT_TRANSLATED +en Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein HP:0025322 IAO:0000115 nl Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein NOT_TRANSLATED +en Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal HP:0005214 IAO:0000115 nl Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal NOT_TRANSLATED +en Blocked Eustachian tube HP:0040269 rdfs:label nl Geblokkeerde buis van Eustachius CANDIDATE +en Blood clot formed within muscle tissue following leakage of blood into the tissue HP:0012233 IAO:0000115 nl Blood clot formed within muscle tissue following leakage of blood into the tissue NOT_TRANSLATED +en Blood concentration of insulin-like factor 3 (ILF3) is below normal limits HP:0031037 IAO:0000115 nl Blood concentration of insulin-like factor 3 (ILF3) is below normal limits NOT_TRANSLATED +en Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs HP:0031225 IAO:0000115 nl Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs NOT_TRANSLATED +en Blood group HP:0032223 rdfs:label nl Blood group NOT_TRANSLATED +en Blood group A HP:0032370 rdfs:label nl Blood group A NOT_TRANSLATED +en Blood group AB HP:0032441 rdfs:label nl Blood group AB NOT_TRANSLATED +en Blood group B HP:0032440 rdfs:label nl Blood group B NOT_TRANSLATED +en Blood group O HP:0032442 rdfs:label nl Blood group O NOT_TRANSLATED +en Blood group antigen abnormality HP:0010970 rdfs:label nl Bloed groep antigeen afwijking CANDIDATE +en Blood pressure substantially higher in arms than legs HP:0020142 rdfs:label nl Blood pressure substantially higher in arms than legs NOT_TRANSLATED +en Blood pressure substantially higher in legs than arms HP:0020141 rdfs:label nl Blood pressure substantially higher in legs than arms NOT_TRANSLATED +en Blood xenobiotic HP:0410172 rdfs:label nl Blood xenobiotic NOT_TRANSLATED +en Bloodstream infectious agent HP:0031863 rdfs:label nl Bloodstream infectious agent NOT_TRANSLATED +en Bloody bronchoalveolar lavage fluid HP:0033174 rdfs:label nl Bloody bronchoalveolar lavage fluid NOT_TRANSLATED +en Bloody diarrhea HP:0025085 rdfs:label nl Bloederige diarree CANDIDATE +en Bloody mucoid diarrhea HP:0025086 rdfs:label nl Bloederige mucoïde diarree CANDIDATE +en Blotching pigmentation of the skin HP:0007610 rdfs:label nl Vlekkerige pigmentatie van de huid CANDIDATE +en Blue and green cones only; no functional red cones HP:0011522 IAO:0000115 nl Blue and green cones only; no functional red cones NOT_TRANSLATED +en Blue cone monochromacy HP:0007939 rdfs:label nl Blauwe kegel monochromasie CANDIDATE +en Blue irides HP:0000635 rdfs:label nl Blauwe irissen CANDIDATE +en Blue nevus HP:0100814 rdfs:label nl Blauwe naevus CANDIDATE +en Blue sclerae HP:0000592 rdfs:label nl Blauwe sclerae CANDIDATE +en Blue urine HP:0040317 rdfs:label nl Blauwe urine CANDIDATE +en Bluish discoloration of one or more regions of the face HP:0034031 IAO:0000115 nl Bluish discoloration of one or more regions of the face NOT_TRANSLATED +en Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved HP:0034033 IAO:0000115 nl Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved NOT_TRANSLATED +en Bluish discoloration of the lips HP:0034030 IAO:0000115 nl Bluish discoloration of the lips NOT_TRANSLATED +en Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood HP:0000961 IAO:0000115 nl Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood NOT_TRANSLATED +en Bluish discoloration of the skin of the hands or feet HP:0001063 IAO:0000115 nl Bluish discoloration of the skin of the hands or feet NOT_TRANSLATED +en Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees HP:0000993 IAO:0000115 nl Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees NOT_TRANSLATED +en Blurred vision HP:0000622 rdfs:label nl Wazig zicht CANDIDATE +en Body ache HP:0033047 rdfs:label nl Body ache NOT_TRANSLATED +en Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body HP:0033047 IAO:0000115 nl Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body NOT_TRANSLATED +en Body odor HP:0500001 rdfs:label nl Lichaamsgeur CANDIDATE +en Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals HP:0410020 IAO:0000115 nl Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals NOT_TRANSLATED +en Body temperature elevated above the normal range HP:0001945 IAO:0000115 nl Body temperature elevated above the normal range NOT_TRANSLATED +en Bone cyst HP:0012062 rdfs:label nl Bot cyste CANDIDATE +en Bone fracture HP:0020110 rdfs:label nl Bone fracture NOT_TRANSLATED +en Bone fracture anywhere in the tibia, fibula, or ankle HP:0041081 IAO:0000115 nl Bone fracture anywhere in the tibia, fibula, or ankle NOT_TRANSLATED +en Bone fracture in the radius, ulna, or wrist HP:0003961 IAO:0000115 nl Bone fracture in the radius, ulna, or wrist NOT_TRANSLATED +en Bone marrow arrest at the promyelocytic stage HP:0033607 rdfs:label nl Bone marrow arrest at the promyelocytic stage NOT_TRANSLATED +en Bone marrow erythroid vacuolization HP:4000108 rdfs:label nl Bone marrow erythroid vacuolization NOT_TRANSLATED +en Bone marrow hypercellularity HP:0031020 rdfs:label nl Beenmerg hypercellulariteit CANDIDATE +en Bone marrow hypocellularity HP:0005528 rdfs:label nl Beenmerg hypocellulariteit CANDIDATE +en Bone marrow maturation arrest HP:0033606 rdfs:label nl Bone marrow maturation arrest NOT_TRANSLATED +en Bone marrow vacuolated lymphocytes HP:0034483 rdfs:label nl Bone marrow vacuolated lymphocytes NOT_TRANSLATED +en Bone pain HP:0002653 rdfs:label nl Botpijn CANDIDATE +en Bone spicule pigmentation of the retina HP:0007737 rdfs:label nl Bone spicule pigmentation of the retina NOT_TRANSLATED +en Bone-in-a-bone appearance of carpal bones HP:0004234 rdfs:label nl Bot-in-a-bot uiterlijk van carpale botten CANDIDATE +en Bone-in-a-bone appearance of forearm HP:0003955 rdfs:label nl Bot-in-bot in onderarm CANDIDATE +en Bone-marrow foam cells HP:0004333 rdfs:label nl Beenmerg schuimcellen CANDIDATE +en Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull HP:0012367 IAO:0000115 nl Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull NOT_TRANSLATED +en Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint HP:0006595 IAO:0000115 nl Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint NOT_TRANSLATED +en Bony fusion of malleus, incus, and stapes HP:0005473 IAO:0000115 nl Bony fusion of malleus, incus, and stapes NOT_TRANSLATED +en Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening HP:0012478 IAO:0000115 nl Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening NOT_TRANSLATED +en Bony fusion of the middle and proximal phalanges of the 2nd toe HP:0100489 IAO:0000115 nl Bony fusion of the middle and proximal phalanges of the 2nd toe NOT_TRANSLATED +en Bony fusion of the middle and proximal phalanges of the 3rd toe HP:0100480 IAO:0000115 nl Bony fusion of the middle and proximal phalanges of the 3rd toe NOT_TRANSLATED +en Bony fusion of the middle and proximal phalanges of the 4th toe HP:0100481 IAO:0000115 nl Bony fusion of the middle and proximal phalanges of the 4th toe NOT_TRANSLATED +en Bony fusion of the middle and proximal phalanges of the 5th toe HP:0100482 IAO:0000115 nl Bony fusion of the middle and proximal phalanges of the 5th toe NOT_TRANSLATED +en Bony fusion of the posterior part of the L5 vertebral body with the sacrum HP:0005626 IAO:0000115 nl Bony fusion of the posterior part of the L5 vertebral body with the sacrum NOT_TRANSLATED +en Bony outgrowths that extend laterally from the margin of the metaphysis HP:0005054 IAO:0000115 nl Bony outgrowths that extend laterally from the margin of the metaphysis NOT_TRANSLATED +en Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull HP:0005890 IAO:0000115 nl Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull NOT_TRANSLATED +en Bony overgrowth of the internal (endosteal) surface of the frontal bone HP:0004438 IAO:0000115 nl Bony overgrowth of the internal (endosteal) surface of the frontal bone NOT_TRANSLATED +en Bony paranasal bossing HP:0004407 rdfs:label nl Bottige, paranasale bossing CANDIDATE +en Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically HP:0012313 IAO:0000115 nl Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically NOT_TRANSLATED +en Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically HP:0012314 IAO:0000115 nl Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically NOT_TRANSLATED +en Borderline HP:0012827 rdfs:label nl Borderline CANDIDATE +en Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85 HP:0006889 IAO:0000115 nl Zwakbegaafd wordt gedefinieerd door een intelligentie quotiënt (IQ) van 70-85 CANDIDATE +en Borderline personality disorder HP:0012076 rdfs:label nl Borderline persoonlijkheidsstoornis CANDIDATE +en Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes HP:0011861 IAO:0000115 nl Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes NOT_TRANSLATED +en Bouchard's node HP:0012314 rdfs:label nl Nodulus van Bouchard CANDIDATE +en Bounding pulse HP:0032555 rdfs:label nl Bounding pulse NOT_TRANSLATED +en Bowed forearm bones HP:0003956 rdfs:label nl Gebogen botten van onderarm CANDIDATE +en Bowed humerus HP:0003865 rdfs:label nl Gebogen humerus CANDIDATE +en Bowel diverticulosis HP:0005222 rdfs:label nl Darm diverticulose CANDIDATE +en Bowel incontinence HP:0002607 rdfs:label nl Fecale incontinentie CANDIDATE +en Bowel irritability HP:0033628 rdfs:label nl Bowel irritability NOT_TRANSLATED +en Bowel urgency HP:0012701 rdfs:label nl Darmoedeus CANDIDATE +en Bowing (abnormal curvature) of the femur HP:0002980 IAO:0000115 nl Bowing (abnormal curvature) of the femur NOT_TRANSLATED +en Bowing (abnormal curvature) of the vocal folds HP:0008756 IAO:0000115 nl Bowing (abnormal curvature) of the vocal folds NOT_TRANSLATED +en Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) HP:0030958 IAO:0000115 nl Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) NOT_TRANSLATED +en Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) HP:0030959 IAO:0000115 nl Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle) NOT_TRANSLATED +en Bowing of limbs due to multiple fractures HP:0003023 rdfs:label nl Bowing van ledematen vanwege multipele fracturen CANDIDATE +en Bowing of the arm HP:0006488 rdfs:label nl Bowing van de arm CANDIDATE +en Bowing of the legs HP:0002979 rdfs:label nl Bowing van de benen CANDIDATE +en Bowing of the long bones HP:0006487 rdfs:label nl Bowing van de lange beenderen CANDIDATE +en Bowing of the vocal cords HP:0008756 rdfs:label nl Bowing van de stembanden CANDIDATE +en Bowman capsular hyaline drops HP:0033226 rdfs:label nl Bowman capsular hyaline drops NOT_TRANSLATED +en Bowman-space proteinaceous debris HP:0033397 rdfs:label nl Bowman-space proteinaceous debris NOT_TRANSLATED +en Brachial plexus neuropathy HP:0045054 rdfs:label nl Plexus brachialis neuropathie CANDIDATE +en Brachiocephalic artery aneurysm HP:0034324 rdfs:label nl Brachiocephalic artery aneurysm NOT_TRANSLATED +en Brachioradialis areflexia HP:0033229 rdfs:label nl Brachioradialis areflexia NOT_TRANSLATED +en Brachioradialis hyperreflexia HP:0033203 rdfs:label nl Brachioradialis hyperreflexia NOT_TRANSLATED +en Brachioradialis hyporeflexia HP:0033202 rdfs:label nl Brachioradialis hyporeflexia NOT_TRANSLATED +en Brachycephaly HP:0000248 rdfs:label nl Brachycephalie CANDIDATE +en Brachydactyly HP:0001156 rdfs:label nl Brachydactylie syndroom CANDIDATE +en Brachytelomesophalangy HP:0005872 rdfs:label nl Brachytelomesofalangie CANDIDATE +en Brachyturricephaly HP:0000244 rdfs:label nl Brachyturricefalie CANDIDATE +en Bracket epiphyses HP:0010578 rdfs:label nl Haakvormige epifysen CANDIDATE +en Bracket epiphyses of the 2nd finger HP:0009489 rdfs:label nl Haakvormige epifysen van de 2e vinger CANDIDATE +en Bracket epiphyses of the 2nd toe HP:0100045 rdfs:label nl Haakvormige epifysen van de 2e teen CANDIDATE +en Bracket epiphyses of the 3rd finger HP:0009411 rdfs:label nl Haakvormige epifysen van de 3e vinger CANDIDATE +en Bracket epiphyses of the 3rd toe HP:0100056 rdfs:label nl Haakvormige epifysen van de 3e teen CANDIDATE +en Bracket epiphyses of the 4th finger HP:0009394 rdfs:label nl Haakvormige epifysen van de 4e vinger CANDIDATE +en Bracket epiphyses of the 4th toe HP:0100067 rdfs:label nl Haakvormige epifysen van de 4e teen CANDIDATE +en Bracket epiphyses of the 5th finger HP:0009383 rdfs:label nl Haakvormige epifysen van de 5e vinger CANDIDATE +en Bracket epiphyses of the 5th toe HP:0100078 rdfs:label nl Haakvormige epifysen van de 5e teen CANDIDATE +en Bracket epiphyses of the distal phalanges of the hand HP:0010247 rdfs:label nl Haakvormige epifysen van distale falangen van hand CANDIDATE +en Bracket epiphyses of the hallux HP:0010114 rdfs:label nl Haakvormige epifysen van de hallux CANDIDATE +en Bracket epiphyses of the middle phalanges of the hand HP:0010258 rdfs:label nl Haakvormige epifysen van middelste falangen van hand CANDIDATE +en Bracket epiphyses of the phalanges of the hand HP:0010229 rdfs:label nl Haakvormige epifysen van falangen van hand CANDIDATE +en Bracket epiphyses of the proximal phalanges of the hand HP:0010269 rdfs:label nl Haakvormige epifysen van proximale falangen van hand CANDIDATE +en Bracket epiphyses of the thumb HP:0009687 rdfs:label nl Haakvormige epifysen van de duim CANDIDATE +en Bracket epiphyses of the toes HP:0010163 rdfs:label nl Haakvormige epifysen van de tenen CANDIDATE +en Bracket epiphysis of the 1st metacarpal HP:0010016 rdfs:label nl Haakvormige epifyse van de 1e metacarpaal CANDIDATE +en Bracket epiphysis of the 1st metatarsal HP:0010150 rdfs:label nl Haakvormige epifyse van de 1e metatarsaal CANDIDATE +en Bracket epiphysis of the distal phalanx of the 2nd finger HP:0009503 rdfs:label nl Haakvormige epifyse van de distale falanx van de 2e vinger CANDIDATE +en Bracket epiphysis of the distal phalanx of the 2nd toe HP:0100101 rdfs:label nl Haakvormige epifyse van de distale falanx van de 2e teen CANDIDATE +en Bracket epiphysis of the distal phalanx of the 3rd finger HP:0009336 rdfs:label nl Haakvormige epifyse van de distale falanx van de 3e vinger CANDIDATE +en Bracket epiphysis of the distal phalanx of the 3rd toe HP:0100136 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 3e teen CANDIDATE +en Bracket epiphysis of the distal phalanx of the 4th finger HP:0009251 rdfs:label nl Haakvormige epifyse van de distale falanx van de 4e vinger CANDIDATE +en Bracket epiphysis of the distal phalanx of the 4th toe HP:0100170 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 4e teen CANDIDATE +en Bracket epiphysis of the distal phalanx of the 5th finger HP:0009187 rdfs:label nl Haakvormige epifyse van de distale falanx van de 5e vinger CANDIDATE +en Bracket epiphysis of the distal phalanx of the 5th toe HP:0100203 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 5e teen CANDIDATE +en Bracket epiphysis of the distal phalanx of the hallux HP:0010139 rdfs:label nl Haakvormige epifyse van de distale falanx van de hallux CANDIDATE +en Bracket epiphysis of the distal phalanx of the thumb HP:0009676 rdfs:label nl Haakvormige epifyse van de proximale falanx van de duim CANDIDATE +en Bracket epiphysis of the middle phalanx of the 2nd finger HP:0009514 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Bracket epiphysis of the middle phalanx of the 2nd toe HP:0100112 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 2e teen CANDIDATE +en Bracket epiphysis of the middle phalanx of the 3rd finger HP:0009322 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Bracket epiphysis of the middle phalanx of the 3rd toe HP:0100147 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 3e teen CANDIDATE +en Bracket epiphysis of the middle phalanx of the 4th finger HP:0009215 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Bracket epiphysis of the middle phalanx of the 4th toe HP:0100181 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 4e teen CANDIDATE +en Bracket epiphysis of the middle phalanx of the 5th finger HP:0009204 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Bracket epiphysis of the middle phalanx of the 5th toe HP:0100214 rdfs:label nl Haakvormige epifyse van de middelste falanx van de 5e teen CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 2nd finger HP:0009525 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 2nd toe HP:0100123 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 2e teen CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 3rd finger HP:0009347 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 3rd toe HP:0100158 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 3e teen CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 4th finger HP:0009262 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 4th toe HP:0100192 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 4e teen CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 5th finger HP:0009197 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Bracket epiphysis of the proximal phalanx of the 5th toe HP:0100225 rdfs:label nl Haakvormige epifyse van de proximale falanx van de 5e teen CANDIDATE +en Bracket epiphysis of the proximal phalanx of the hallux HP:0010128 rdfs:label nl Haakvormige epifyse van de proximale falanx van de hallux CANDIDATE +en Bracket epiphysis of the proximal phalanx of the thumb HP:0009665 rdfs:label nl Haakvormige epifyse van de proximale falanx van de duim CANDIDATE +en Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side HP:0010229 IAO:0000115 nl Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side NOT_TRANSLATED +en Bracket metacarpal epiphyses HP:0200050 rdfs:label nl Haakvormige epifysen van de metacarpalen CANDIDATE +en Bradycardia HP:0001662 rdfs:label nl Bradycardie CANDIDATE +en Bradycardia related to a mean resting sinus rate of less than 50 beats per minute HP:0001688 IAO:0000115 nl Bradycardia related to a mean resting sinus rate of less than 50 beats per minute NOT_TRANSLATED +en Bradykinesia HP:0002067 rdfs:label nl Bradykinesie CANDIDATE +en Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement) HP:0002067 IAO:0000115 nl Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement) NOT_TRANSLATED +en Bradyopsia HP:0030511 rdfs:label nl Bradyopsie CANDIDATE +en Bradyphrenia HP:0031843 rdfs:label nl Bradyphrenia NOT_TRANSLATED +en Bradypnea HP:0046507 rdfs:label nl Bradypnea NOT_TRANSLATED +en Bradypnea is referring to breathing that is abnormally slow HP:0046507 IAO:0000115 nl Bradypnea is referring to breathing that is abnormally slow NOT_TRANSLATED +en Brain abscess HP:0030049 rdfs:label nl Abces van de hersenen CANDIDATE +en Brain atrophy HP:0012444 rdfs:label nl Atrofie van de hersenen CANDIDATE +en Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage HP:0006929 IAO:0000115 nl Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage NOT_TRANSLATED +en Brain fog HP:0033630 rdfs:label nl Brain fog NOT_TRANSLATED +en Brain imaging abnormality HP:0410263 rdfs:label nl Brain imaging abnormality NOT_TRANSLATED +en Brain neoplasm HP:0030692 rdfs:label nl Brein neoplasma CANDIDATE +en Brain stem compression HP:0002512 rdfs:label nl Hersenstam compressie CANDIDATE +en Brainstem dysplasia HP:0002508 rdfs:label nl Hersenstam dysplasie CANDIDATE +en Brainstem glioma HP:0010796 rdfs:label nl Hersenstam glioom CANDIDATE +en Branch retinal artery occlusion HP:0020161 rdfs:label nl Branch retinal artery occlusion NOT_TRANSLATED +en Branch retinal vein occlusion HP:0020165 rdfs:label nl Branch retinal vein occlusion NOT_TRANSLATED +en Branched-chain aminoaciduria HP:0033089 rdfs:label nl Branched-chain aminoaciduria NOT_TRANSLATED +en Branchial anomaly HP:0009794 rdfs:label nl Kieuwboog anomalie CANDIDATE +en Branchial cyst HP:0009796 rdfs:label nl Kieuwboog cyste CANDIDATE +en Branchial fistula HP:0009795 rdfs:label nl Kieuwboog fistel CANDIDATE +en Branchial sinus HP:0100272 rdfs:label nl Branchiale sinus CANDIDATE +en Branching of the umbilical cord before its insertion into the placenta HP:0030660 IAO:0000115 nl Branching of the umbilical cord before its insertion into the placenta NOT_TRANSLATED +en Breadth of the incisura from the anterior to posterior border greater than that observed in the average population HP:0031232 IAO:0000115 nl Breadth of the incisura from the anterior to posterior border greater than that observed in the average population NOT_TRANSLATED +en Breakage (tear) of a tendon HP:0100550 IAO:0000115 nl Breakage (tear) of a tendon NOT_TRANSLATED +en Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation HP:0034419 IAO:0000115 nl Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation NOT_TRANSLATED +en Breakage of the sclera HP:0025513 IAO:0000115 nl Breakage of the sclera NOT_TRANSLATED +en Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream HP:0003201 IAO:0000115 nl Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream NOT_TRANSLATED +en Breakthrough pain HP:0032149 rdfs:label nl Breakthrough pain NOT_TRANSLATED +en Breast aplasia HP:0100783 rdfs:label nl Borst aplasie CANDIDATE +en Breast carcinoma HP:0003002 rdfs:label nl Mammacarcinoom CANDIDATE +en Breast carcinoma that is bilateral or otherwise multifocal HP:0006625 IAO:0000115 nl Breast carcinoma that is bilateral or otherwise multifocal NOT_TRANSLATED +en Breast hypertrophy HP:0010313 rdfs:label nl Borst hypertrofie CANDIDATE +en Breast hypoplasia HP:0003187 rdfs:label nl Hypoplasie van de borst CANDIDATE +en Breast mass HP:0032408 rdfs:label nl Breast mass NOT_TRANSLATED +en Breathing dysregulation HP:0005957 rdfs:label nl Ademdysregulatie CANDIDATE +en Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing HP:0030207 IAO:0000115 nl Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing NOT_TRANSLATED +en Breech presentation HP:0001623 rdfs:label nl Stuitligging CANDIDATE +en Bridged palmar crease HP:0011310 rdfs:label nl Gebrugde handlijn CANDIDATE +en Bridged sella turcica HP:0005449 rdfs:label nl Gebrugde sella turcica CANDIDATE +en Brisk reflexes HP:0001348 rdfs:label nl Snelle reflexen CANDIDATE +en Brittle hair HP:0002299 rdfs:label nl Bros haar CANDIDATE +en Brittle scalp hair HP:0004779 rdfs:label nl Bros hoofdhaar CANDIDATE +en Broad 1st metacarpal HP:0010027 rdfs:label nl Brede 1e metacarpaal CANDIDATE +en Broad 2nd toe HP:0100040 rdfs:label nl Brede 2e teen CANDIDATE +en Broad 3rd toe HP:0100041 rdfs:label nl Brede 3e teen CANDIDATE +en Broad 4th toe HP:0100042 rdfs:label nl Brede 4e teen CANDIDATE +en Broad 5th toe HP:0100043 rdfs:label nl Brede 5e teen CANDIDATE +en Broad alveolar ridges HP:0000187 rdfs:label nl Brede alveolaire ruggen CANDIDATE +en Broad carpal bones HP:0004242 rdfs:label nl Brede carpale botten CANDIDATE +en Broad chin HP:0011822 rdfs:label nl Brede kin CANDIDATE +en Broad clavicles HP:0000916 rdfs:label nl Brede sleutelbeenderen CANDIDATE +en Broad columella HP:0010761 rdfs:label nl Brede columella CANDIDATE +en Broad diaphyses of the upper limbs HP:0003861 rdfs:label nl Brede diafysen van bovenste ledematen CANDIDATE +en Broad distal hallux HP:0008111 rdfs:label nl Brede distale hallux CANDIDATE +en Broad distal phalanges of all fingers HP:0009880 rdfs:label nl Brede distale falangen van alle vingers CANDIDATE +en Broad distal phalanx of finger HP:0009836 rdfs:label nl Brede distale falanx van de vinger CANDIDATE +en Broad distal phalanx of the 2nd finger HP:0009558 rdfs:label nl Brede distale falanx van de 2e vinger CANDIDATE +en Broad distal phalanx of the 2nd toe HP:0010414 rdfs:label nl Brede distale falanx van de 2e teen CANDIDATE +en Broad distal phalanx of the 3rd finger HP:0009422 rdfs:label nl Brede distale falanx van de 3e vinger CANDIDATE +en Broad distal phalanx of the 3rd toe HP:0100431 rdfs:label nl Brede distale falanx van de 3e teen CANDIDATE +en Broad distal phalanx of the 4th finger HP:0009292 rdfs:label nl Brede distale falanx van de 4e vinger CANDIDATE +en Broad distal phalanx of the 4th toe HP:0100432 rdfs:label nl Brede distale falanx van de 4e teen CANDIDATE +en Broad distal phalanx of the 5th finger HP:0009240 rdfs:label nl Brede distale falanx van de 5e vinger CANDIDATE +en Broad distal phalanx of the 5th toe HP:0100433 rdfs:label nl Brede distale falanx van de 5e teen CANDIDATE +en Broad distal phalanx of the hallux HP:0010077 rdfs:label nl Brede distale falanx van de hallux CANDIDATE +en Broad distal phalanx of the thumb HP:0009642 rdfs:label nl Brede distale falanx van de duim CANDIDATE +en Broad distal phalanx of the toes HP:0010186 rdfs:label nl Brede distale falanx van de tenen CANDIDATE +en Broad eyebrow HP:0011229 rdfs:label nl Brede wenkbrauw CANDIDATE +en Broad face HP:0000283 rdfs:label nl Breed gelaat CANDIDATE +en Broad femoral head HP:0008804 rdfs:label nl Brede femurkop CANDIDATE +en Broad femoral metaphyses HP:0006417 rdfs:label nl Brede metafysen van femur CANDIDATE +en Broad femoral neck HP:0006429 rdfs:label nl Breed collum CANDIDATE +en Broad finger HP:0001500 rdfs:label nl Brede vinger CANDIDATE +en Broad fingertip HP:0011300 rdfs:label nl Brede vingertop CANDIDATE +en Broad first metatarsal HP:0010068 rdfs:label nl Brede eerste metatarsaal CANDIDATE +en Broad foot HP:0001769 rdfs:label nl Brede voet CANDIDATE +en Broad forearm bones HP:0003971 rdfs:label nl Brede botten van onderarm CANDIDATE +en Broad forehead HP:0000337 rdfs:label nl Breed voorhoofd CANDIDATE +en Broad hallux HP:0010055 rdfs:label nl Brede hallux CANDIDATE +en Broad hallux phalanx HP:0010059 rdfs:label nl Breed falanx van hallux CANDIDATE +en Broad humeral epiphyseal plate HP:0003906 rdfs:label nl Brede epifysaire plaat van de humerus CANDIDATE +en Broad humeral epiphyses HP:0003903 rdfs:label nl Brede epifysen van de humerus CANDIDATE +en Broad inferior crus of antihelix HP:0011237 rdfs:label nl Brede inferieure crus anthelicis CANDIDATE +en Broad ischia HP:0100865 rdfs:label nl Brede ischia CANDIDATE +en Broad jaw HP:0012802 rdfs:label nl Brede kaak CANDIDATE +en Broad lateral eyebrow HP:0007933 rdfs:label nl Brede laterale wenkbrauw CANDIDATE +en Broad long bone diaphyses HP:0006371 rdfs:label nl Brede diafysen van lange botten CANDIDATE +en Broad long bones HP:0005622 rdfs:label nl Brede lange beenderen CANDIDATE +en Broad medial eyebrow HP:0034003 rdfs:label nl Broad medial eyebrow NOT_TRANSLATED +en Broad metacarpal epiphyses HP:0006146 rdfs:label nl Brede metacarpale epifysen CANDIDATE +en Broad metacarpals HP:0001230 rdfs:label nl Brede middelhandsbeentjes CANDIDATE +en Broad metatarsal HP:0001783 rdfs:label nl Breed middenvoetsbeentje CANDIDATE +en Broad middle phalanges of the toes HP:0010195 rdfs:label nl Brede middelste falangen van de tenen CANDIDATE +en Broad middle phalanx of finger HP:0009844 rdfs:label nl Brede middelste falanx van vinger CANDIDATE +en Broad middle phalanx of the 2nd finger HP:0009569 rdfs:label nl Brede middelste falanx van de 2e vinger CANDIDATE +en Broad middle phalanx of the 2nd toe HP:0010405 rdfs:label nl Brede middelste falanx van de 2e teen CANDIDATE +en Broad middle phalanx of the 3rd finger HP:0009430 rdfs:label nl Brede middelste falanx van de 3e vinger CANDIDATE +en Broad middle phalanx of the 3rd toe HP:0100425 rdfs:label nl Brede middelste falanx van de 3e teen CANDIDATE +en Broad middle phalanx of the 4th finger HP:0009293 rdfs:label nl Brede middelste falanx van de 4e vinger CANDIDATE +en Broad middle phalanx of the 4th toe HP:0100426 rdfs:label nl Brede middelste falanx van de 4e teen CANDIDATE +en Broad middle phalanx of the 5th finger HP:0009169 rdfs:label nl Brede middelste falanx van de 5e vinger CANDIDATE +en Broad middle phalanx of the 5th toe HP:0100427 rdfs:label nl Brede middelste falanx van de 5e teen CANDIDATE +en Broad nail HP:0001821 rdfs:label nl Brede nagel CANDIDATE +en Broad nasal tip HP:0000455 rdfs:label nl Brede neuspunt CANDIDATE +en Broad neck HP:0000475 rdfs:label nl Brede nek CANDIDATE +en Broad palm HP:0001169 rdfs:label nl Brede palm CANDIDATE +en Broad phalanges of the 2nd finger HP:0009547 rdfs:label nl Brede falangen van de 2e vinger CANDIDATE +en Broad phalanges of the 2nd toe HP:0010348 rdfs:label nl Brede falangen van de 2e teen CANDIDATE +en Broad phalanges of the 3rd finger HP:0009440 rdfs:label nl Brede falangen van de 3e vinger CANDIDATE +en Broad phalanges of the 3rd toe HP:0010360 rdfs:label nl Brede falangen van de 3e teen CANDIDATE +en Broad phalanges of the 4th finger HP:0009404 rdfs:label nl Brede falangen van de 4e vinger CANDIDATE +en Broad phalanges of the 4th toe HP:0010372 rdfs:label nl Brede falangen van de 4e teen CANDIDATE +en Broad phalanges of the 5th finger HP:0009374 rdfs:label nl Brede falangen van de 5e vinger CANDIDATE +en Broad phalanges of the 5th toe HP:0010384 rdfs:label nl Brede falangen van de 5e teen CANDIDATE +en Broad phalanges of the hand HP:0009768 rdfs:label nl Brede falangen van de hand CANDIDATE +en Broad phalanx HP:0006009 rdfs:label nl Breed falanx CANDIDATE +en Broad phalanx of the toes HP:0010174 rdfs:label nl Brede falangen van de tenen CANDIDATE +en Broad philtrum HP:0000289 rdfs:label nl Breed filtrum CANDIDATE +en Broad proximal phalanges of the hand HP:0009852 rdfs:label nl Brede proximale falangen van de hand CANDIDATE +en Broad proximal phalanx of the 2nd finger HP:0009581 rdfs:label nl Breed proximale falanx van de 2e vinger CANDIDATE +en Broad proximal phalanx of the 2nd toe HP:0010396 rdfs:label nl Breed proximale falanx van de 2e teen CANDIDATE +en Broad proximal phalanx of the 3rd finger HP:0009450 rdfs:label nl Breed proximale falanx van de 3e vinger CANDIDATE +en Broad proximal phalanx of the 3rd toe HP:0100428 rdfs:label nl Breed proximale falanx van de 3e teen CANDIDATE +en Broad proximal phalanx of the 4th finger HP:0009310 rdfs:label nl Breed proximale falanx van de 4e vinger CANDIDATE +en Broad proximal phalanx of the 4th toe HP:0100429 rdfs:label nl Breed proximale falanx van de 4e teen CANDIDATE +en Broad proximal phalanx of the 5th finger HP:0009227 rdfs:label nl Breed proximale falanx van de 5e vinger CANDIDATE +en Broad proximal phalanx of the 5th toe HP:0100430 rdfs:label nl Brede proximale falanx van de 5e teen CANDIDATE +en Broad proximal phalanx of the hallux HP:0010086 rdfs:label nl Brede proximale falanx van de hallux CANDIDATE +en Broad proximal phalanx of the thumb HP:0009630 rdfs:label nl Brede proximale falanx van de duim CANDIDATE +en Broad proximal phalanx of toe HP:0010204 rdfs:label nl Brede proximale falanx van de teen CANDIDATE +en Broad radial diaphysis HP:0004031 rdfs:label nl Brede diafyse van de radius CANDIDATE +en Broad radial epiphyseal plate HP:0004014 rdfs:label nl Brede epifysaire plaat van de radius CANDIDATE +en Broad radial metaphysis HP:0004026 rdfs:label nl Brede metafyse van de radius CANDIDATE +en Broad radius HP:0003981 rdfs:label nl Brede radius CANDIDATE +en Broad ribs HP:0000885 rdfs:label nl Brede ribben CANDIDATE +en Broad secondary alveolar ridge HP:0000216 rdfs:label nl Brede secundaire alveolaire rug CANDIDATE +en Broad skull HP:0002682 rdfs:label nl Brede schedel CANDIDATE +en Broad thumb HP:0011304 rdfs:label nl Brede duim CANDIDATE +en Broad tibial metaphyses HP:0006413 rdfs:label nl Brede metafysen van tibia CANDIDATE +en Broad toe HP:0001837 rdfs:label nl Brede teen CANDIDATE +en Broad ulna HP:0003993 rdfs:label nl Brede ulna CANDIDATE +en Broad uvula HP:0010809 rdfs:label nl Brede uvula CANDIDATE +en Broad xiphoid process HP:0100894 rdfs:label nl Breed processus xiphoideus CANDIDATE +en Broad-based gait HP:0002136 rdfs:label nl Brede gang CANDIDATE +en Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails HP:0001217 IAO:0000115 nl Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails NOT_TRANSLATED +en Bronchial artery dilatation HP:0033390 rdfs:label nl Bronchial artery dilatation NOT_TRANSLATED +en Bronchial artery hypertrophy HP:0033391 rdfs:label nl Bronchial artery hypertrophy NOT_TRANSLATED +en Bronchial atresia HP:0030715 rdfs:label nl Bronchiale atresie CANDIDATE +en Bronchial breath sound HP:0031994 rdfs:label nl Bronchial breath sound NOT_TRANSLATED +en Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy HP:0031994 IAO:0000115 nl Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy NOT_TRANSLATED +en Bronchial cartilage hypoplasia HP:0006539 rdfs:label nl Bronchiaal kraakbeen hypoplasie CANDIDATE +en Bronchial diverticula HP:0033621 rdfs:label nl Bronchial diverticula NOT_TRANSLATED +en Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum HP:0033621 IAO:0000115 nl Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum NOT_TRANSLATED +en Bronchial hemorrhage HP:0033999 rdfs:label nl Bronchial hemorrhage NOT_TRANSLATED +en Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy HP:0033999 IAO:0000115 nl Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy NOT_TRANSLATED +en Bronchial isomerism HP:0031564 rdfs:label nl Bronchiaal isomerisme CANDIDATE +en Bronchial neoplasm HP:0030077 rdfs:label nl Bronchiaal neoplasma CANDIDATE +en Bronchial papilloma HP:0033002 rdfs:label nl Bronchial papilloma NOT_TRANSLATED +en Bronchial telangiectasia HP:0033370 rdfs:label nl Bronchial telangiectasia NOT_TRANSLATED +en Bronchial wall thickening HP:0033542 rdfs:label nl Bronchial wall thickening NOT_TRANSLATED +en Bronchiectasis HP:0002110 rdfs:label nl Bronchiëctasieen CANDIDATE +en Bronchiolectasis HP:0410397 rdfs:label nl Bronchiolectasis NOT_TRANSLATED +en Bronchiolitis HP:0011950 rdfs:label nl Bronchiolitis CANDIDATE +en Bronchiolitis obliterans HP:0011946 rdfs:label nl Bronchiolitis obliterans CANDIDATE +en Bronchiolitis obliterans organizing pneumonia HP:0011945 rdfs:label nl Bronchiolitis obliterans met organiserende pneumonie CANDIDATE +en Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss HP:0011945 IAO:0000115 nl Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss NOT_TRANSLATED +en Bronchitis HP:0012387 rdfs:label nl Bronchitis CANDIDATE +en Bronchocele HP:0033653 rdfs:label nl Bronchocele NOT_TRANSLATED +en Bronchocentric HP:0033815 rdfs:label nl Bronchocentric NOT_TRANSLATED +en Bronchocentric granulomatosis HP:0033371 rdfs:label nl Bronchocentric granulomatosis NOT_TRANSLATED +en Bronchoconstriction HP:4000007 rdfs:label nl Bronchoconstriction NOT_TRANSLATED +en Bronchodysplasia HP:0006533 rdfs:label nl Bronchodysplasie CANDIDATE +en Bronchogenic cyst HP:0100730 rdfs:label nl Bronchogene cyste CANDIDATE +en Broncholith HP:0033652 rdfs:label nl Broncholith NOT_TRANSLATED +en Bronchomalacia HP:0002780 rdfs:label nl Bronchomalacie CANDIDATE +en Bronchomegaly HP:0010777 rdfs:label nl Bronchomegalie CANDIDATE +en Bronchopulmonary anastomosis HP:0033389 rdfs:label nl Bronchopulmonary anastomosis NOT_TRANSLATED +en Bronchopulmonary sequestration HP:0010960 rdfs:label nl Bronchopulmonale sequestratie CANDIDATE +en Bronchospasm HP:0025428 rdfs:label nl Bronchospasme CANDIDATE +en Brow ptosis HP:0031623 rdfs:label nl Brow ptosis CANDIDATE +en Brown anomaly HP:0031622 rdfs:label nl Brown anomaly NOT_TRANSLATED +en Brown or black discoloration of the nails HP:0100644 IAO:0000115 nl Brown or black discoloration of the nails NOT_TRANSLATED +en Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved HP:0030764 IAO:0000115 nl Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved NOT_TRANSLATED +en Brown pigment gallstones HP:0011983 rdfs:label nl Bruin pigment galstenen CANDIDATE +en Bruising susceptibility HP:0000978 rdfs:label nl Gevoeligheid voor kneuzingen CANDIDATE +en Brushfield spots HP:0001088 rdfs:label nl Brushfield vlekken CANDIDATE +en Bruxism HP:0003763 rdfs:label nl Bruxisme CANDIDATE +en Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake HP:0003763 IAO:0000115 nl Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occcur while the affected individual is awake NOT_TRANSLATED +en Budd-Chiari syndrome HP:0002639 rdfs:label nl Budd-Chairi syndroom CANDIDATE +en Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience HP:0002639 IAO:0000115 nl Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience NOT_TRANSLATED +en Buildups of minerals that form in the urinary bladder HP:0010474 IAO:0000115 nl Buildups of minerals that form in the urinary bladder NOT_TRANSLATED +en Bulbar palsy HP:0001283 rdfs:label nl Bulbaire parese CANDIDATE +en Bulbar signs HP:0002483 rdfs:label nl Bulbaire tekenen CANDIDATE +en Bulbar urethral stricture HP:0025415 rdfs:label nl Bulbaire urethrale strictuur CANDIDATE +en Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia HP:0001283 IAO:0000115 nl Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia NOT_TRANSLATED +en Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours HP:0004566 IAO:0000115 nl Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours NOT_TRANSLATED +en Bulbous nose HP:0000414 rdfs:label nl Bolvormige neus CANDIDATE +en Bulbous tips of toes HP:0001782 rdfs:label nl Bolvormige toppen van tenen CANDIDATE +en Bulbous tooth HP:0033780 rdfs:label nl Bulbous tooth NOT_TRANSLATED +en Bulging epiphyses HP:0003013 rdfs:label nl Uitpuilende epifysen CANDIDATE +en Bulging of the costochondral junction HP:0000893 rdfs:label nl Bolling van de costochondrale verbinding CANDIDATE +en Bulimia HP:0100739 rdfs:label nl Boulimia CANDIDATE +en Bull's eye maculopathy HP:0011504 rdfs:label nl Bull's eye maculopathie CANDIDATE +en Bull's eye rash HP:0040325 rdfs:label nl Bull's eye huiduitslag CANDIDATE +en Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet) HP:0031045 IAO:0000115 nl Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet) NOT_TRANSLATED +en Bullet-shaped 1st metacarpal HP:0010028 rdfs:label nl Kogel-vormige 1e metacarpaal CANDIDATE +en Bullet-shaped 1st metatarsal HP:0010069 rdfs:label nl Kogel-vormige 1e metatarsaal CANDIDATE +en Bullet-shaped 2nd toe phalanx HP:0010349 rdfs:label nl Kogel-vormig falanx van de 2e teen CANDIDATE +en Bullet-shaped 3rd toe phalanx HP:0010361 rdfs:label nl Kogel-vormig falanx van de 3e teen CANDIDATE +en Bullet-shaped 4th toe phalanx HP:0010373 rdfs:label nl Kogel-vormig falanx van de 4e teen CANDIDATE +en Bullet-shaped 5th toe phalanx HP:0010385 rdfs:label nl Kogel-vormig falanx van de 5e teen CANDIDATE +en Bullet-shaped distal phalanges of the hand HP:0009837 rdfs:label nl Kogel-vormige distal falangen van de hand CANDIDATE +en Bullet-shaped distal phalanx of the 2nd finger HP:0009559 rdfs:label nl Kogel-vormige distale falanx van de 2e vinger CANDIDATE +en Bullet-shaped distal phalanx of the 2nd toe HP:0010415 rdfs:label nl Kogel-vormige distale falanx van de 2e teen CANDIDATE +en Bullet-shaped distal phalanx of the 3rd finger HP:0009423 rdfs:label nl Kogel-vormige distale falanx van de 3e vinger CANDIDATE +en Bullet-shaped distal phalanx of the 3rd toe HP:0100440 rdfs:label nl Kogel-vormige distale falanx van de 3e teen CANDIDATE +en Bullet-shaped distal phalanx of the 4th finger HP:0009302 rdfs:label nl Kogel-vormige distale falanx van de 4e vinger CANDIDATE +en Bullet-shaped distal phalanx of the 4th toe HP:0100441 rdfs:label nl Kogel-vormige distale falanx van de 4e teen CANDIDATE +en Bullet-shaped distal phalanx of the 5th finger HP:0009241 rdfs:label nl Kogel-vormige distale falanx van de 5e vinger CANDIDATE +en Bullet-shaped distal phalanx of the 5th toe HP:0100442 rdfs:label nl Kogel-vormige distale falanx van de 5e teen CANDIDATE +en Bullet-shaped distal phalanx of the hallux HP:0010078 rdfs:label nl Kogel-vormige distale falanx van de hallux CANDIDATE +en Bullet-shaped distal phalanx of the thumb HP:0009643 rdfs:label nl Kogel-vormige distale falanx van de duim CANDIDATE +en Bullet-shaped distal toe phalanx HP:0010187 rdfs:label nl Kogel-vormige distale falanx van teen CANDIDATE +en Bullet-shaped hallux phalanx HP:0010060 rdfs:label nl Kogel-vormig falanx van de hallux CANDIDATE +en Bullet-shaped middle phalanges of the hand HP:0009845 rdfs:label nl Kogel-vormige middelste falangen van de hand CANDIDATE +en Bullet-shaped middle phalanx of the 2nd finger HP:0009570 rdfs:label nl Kogel-vormige middelste falanx van de 2e vinger CANDIDATE +en Bullet-shaped middle phalanx of the 2nd toe HP:0010406 rdfs:label nl Kogel-vormige middelste falanx van de 2e teen CANDIDATE +en Bullet-shaped middle phalanx of the 3rd finger HP:0009431 rdfs:label nl Kogel-vormige middelste falanx van de 3e vinger CANDIDATE +en Bullet-shaped middle phalanx of the 3rd toe HP:0100434 rdfs:label nl Kogel-vormige middelste falanx van de 3e teen CANDIDATE +en Bullet-shaped middle phalanx of the 4th finger HP:0009296 rdfs:label nl Kogel-vormige middelste falanx van de 4e vinger CANDIDATE +en Bullet-shaped middle phalanx of the 4th toe HP:0100435 rdfs:label nl Kogel-vormige middelste falanx van de 4e teen CANDIDATE +en Bullet-shaped middle phalanx of the 5th finger HP:0009168 rdfs:label nl Kogel-vormige middelste falanx van de 5e vinger CANDIDATE +en Bullet-shaped middle phalanx of the 5th toe HP:0100436 rdfs:label nl Kogel-vormige middelste falanx van de 5e teen CANDIDATE +en Bullet-shaped middle toe phalanx HP:0010196 rdfs:label nl Kogel-vormig falanx van de middelste teen CANDIDATE +en Bullet-shaped phalanges of the 2nd finger HP:0009548 rdfs:label nl Kogel-vormige falangen van de 2e vinger CANDIDATE +en Bullet-shaped phalanges of the 3rd finger HP:0009441 rdfs:label nl Kogel-vormige falangen van de 3e vinger CANDIDATE +en Bullet-shaped phalanges of the 4th finger HP:0009405 rdfs:label nl Kogel-vormige falangen van de 4e vinger CANDIDATE +en Bullet-shaped phalanges of the 5th finger HP:0009375 rdfs:label nl Kogel-vormige falangen van de 5e vinger CANDIDATE +en Bullet-shaped phalanges of the hand HP:0009769 rdfs:label nl Kogel-vormige falangen van de hand CANDIDATE +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected HP:0009559 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected HP:0009423 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected HP:0009302 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected HP:0009241 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected HP:0009431 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected HP:0009296 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected HP:0009168 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected HP:0009451 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected HP:0009311 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected HP:0009228 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected HP:0009643 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected HP:0009570 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected HP:0009582 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected NOT_TRANSLATED +en Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected HP:0009631 IAO:0000115 nl Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected NOT_TRANSLATED +en Bullet-shaped proximal phalanges of the hand HP:0009853 rdfs:label nl Kogel-vormige proximale falangen van de hand CANDIDATE +en Bullet-shaped proximal phalanx of the 2nd finger HP:0009582 rdfs:label nl Kogel-vormige proximale falanx van de 2e vinger CANDIDATE +en Bullet-shaped proximal phalanx of the 2nd toe HP:0010397 rdfs:label nl Kogel-vormige proximale falanx van de 2e teen CANDIDATE +en Bullet-shaped proximal phalanx of the 3rd finger HP:0009451 rdfs:label nl Kogel-vormige proximale falanx van de 3e vinger CANDIDATE +en Bullet-shaped proximal phalanx of the 3rd toe HP:0100437 rdfs:label nl Kogel-vormige proximale falanx van de 3e teen CANDIDATE +en Bullet-shaped proximal phalanx of the 4th finger HP:0009311 rdfs:label nl Kogel-vormige proximale falanx van de 4e vinger CANDIDATE +en Bullet-shaped proximal phalanx of the 4th toe HP:0100438 rdfs:label nl Kogel-vormige proximale falanx van de 4e teen CANDIDATE +en Bullet-shaped proximal phalanx of the 5th finger HP:0009228 rdfs:label nl Kogel-vormige proximale falanx van de 5e vinger CANDIDATE +en Bullet-shaped proximal phalanx of the 5th toe HP:0100439 rdfs:label nl Kogel-vormige proximale falanx van de 5e teen CANDIDATE +en Bullet-shaped proximal phalanx of the hallux HP:0010087 rdfs:label nl Kogel-vormige proximale falanx van de hallux CANDIDATE +en Bullet-shaped proximal phalanx of the thumb HP:0009631 rdfs:label nl Kogel-vormige proximale falanx van de duim CANDIDATE +en Bullet-shaped proximal toe phalanx HP:0010205 rdfs:label nl Kogel-vormige proximale falanx van teen CANDIDATE +en Bullet-shaped thumb phalanx HP:0009652 rdfs:label nl Kogel-vormig falanx van de duim CANDIDATE +en Bullet-shaped toe phalanx HP:0010175 rdfs:label nl Kogel-vormig falanx van teen CANDIDATE +en Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen HP:4000020 IAO:0000115 nl Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen NOT_TRANSLATED +en Bundle branch block HP:0011710 rdfs:label nl Bundeltak blok CANDIDATE +en Buphthalmos HP:0000557 rdfs:label nl Buftalmie CANDIDATE +en Buried teeth encased in mucopolysaccharide HP:0006326 rdfs:label nl Begraven tanden ingekapseld in mucopolysaccharide CANDIDATE +en Burkitt lymphoma HP:0030080 rdfs:label nl Burkitt lymfoom CANDIDATE +en Burning mouth HP:0032143 rdfs:label nl Burning mouth NOT_TRANSLATED +en Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals HP:0032519 IAO:0000115 nl Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals NOT_TRANSLATED +en Bursitis HP:0025232 rdfs:label nl Bursitis CANDIDATE +en Bursts of large-amplitude multidirectional saccades without intersaccadic interval HP:0010543 IAO:0000115 nl Bursts of large-amplitude multidirectional saccades without intersaccadic interval NOT_TRANSLATED +en Butterfly vertebrae HP:0003316 rdfs:label nl Vlinderwervel CANDIDATE +en Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends HP:0004617 IAO:0000115 nl Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends NOT_TRANSLATED +en Butterfly vertebral arch HP:0004617 rdfs:label nl Butterfly vertebral arch NOT_TRANSLATED +en By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation HP:0010963 IAO:0000115 nl By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation NOT_TRANSLATED +en C1-C2 subluxation HP:0003320 rdfs:label nl C1-C2 subluxatie CANDIDATE +en C1-C2 vertebral abnormality HP:0008440 rdfs:label nl C1-C2 vertebrale afwijking CANDIDATE +en C2-C3 subluxation HP:0008456 rdfs:label nl C2-C3 subluxatie CANDIDATE +en C3 nephritic factor positivity HP:0030888 rdfs:label nl C3-nefritische factor positiviteit CANDIDATE +en C4 nephritic factor positivity HP:0034257 rdfs:label nl C4 nephritic factor positivity NOT_TRANSLATED +en CNS demyelination HP:0007305 rdfs:label nl CZS demyelinisatie CANDIDATE +en CNS foam cells HP:0003640 rdfs:label nl Schuimcellen in viscerale organen en CZS CANDIDATE +en CNS hypermyelination HP:0012754 rdfs:label nl CZS hypermyelinisatie CANDIDATE +en CNS hypomyelination HP:0003429 rdfs:label nl CZS hypomyelinisatie CANDIDATE +en CNS vasculitis with reactivation of varicella-zoster virus HP:0034319 rdfs:label nl CNS vasculitis with reactivation of varicella-zoster virus NOT_TRANSLATED +en CSF albumin level is below the lower limit of normal HP:0025458 IAO:0000115 nl CSF albumin level is below the lower limit of normal NOT_TRANSLATED +en CSF anti-NMDA receptor antibody positivity HP:0032266 rdfs:label nl CSF anti-NMDA receptor antibody positivity NOT_TRANSLATED +en CSF autoimmune antibody positivity HP:0032265 rdfs:label nl CSF autoimmune antibody positivity NOT_TRANSLATED +en CSF lymphocytic pleiocytosis HP:0200149 rdfs:label nl Lymfocytaire pleiocytose in liquor CANDIDATE +en CSF pleocytosis HP:0012229 rdfs:label nl Liquor pleiocytose CANDIDATE +en CSF polymorphonuclear pleocytosis HP:0012756 rdfs:label nl Liquor polymorfonucleaire pleiocytose CANDIDATE +en CSF total protein level is below the lower limit of normal HP:0025457 IAO:0000115 nl CSF total protein level is below the lower limit of normal NOT_TRANSLATED +en CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis HP:0032983 IAO:0000115 nl CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis NOT_TRANSLATED +en CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm HP:0032971 IAO:0000115 nl CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm NOT_TRANSLATED +en Cachexia HP:0004326 rdfs:label nl Cachexie CANDIDATE +en Caesarian section HP:0011410 rdfs:label nl Sectio caesarea CANDIDATE +en Cafe-au-lait spot HP:0000957 rdfs:label nl Cafe-au-lait plek CANDIDATE +en Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children HP:0000957 IAO:0000115 nl Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children NOT_TRANSLATED +en Calcaneal epiphyseal stippling HP:0004695 rdfs:label nl Vlekkerige calcificaties van epifyse van calcaneus CANDIDATE +en Calcaneonavicular fusion HP:0008122 rdfs:label nl Calcaneonaviculaire fusie CANDIDATE +en Calcaneovalgus deformity HP:0001848 rdfs:label nl Calcaneovalgus deformiteit CANDIDATE +en Calcific stippling HP:0002832 rdfs:label nl Vlekkerige calcificatie CANDIDATE +en Calcific stippling of infantile cartilaginous skeleton HP:0005841 rdfs:label nl Calcific stippling of infantile cartilaginous skeleton NOT_TRANSLATED +en Calcification (abnormal deposits of calcium) in the laryngeal tissues HP:0008754 IAO:0000115 nl Calcification (abnormal deposits of calcium) in the laryngeal tissues NOT_TRANSLATED +en Calcification (abnormal deposits of calcium) in the tracheal tissues HP:0002787 IAO:0000115 nl Calcification (abnormal deposits of calcium) in the tracheal tissues NOT_TRANSLATED +en Calcification of cartilage HP:0100593 rdfs:label nl Calcificatie van kraakbeen CANDIDATE +en Calcification of falx cerebri HP:0005462 rdfs:label nl Calcificatie van falx cerebri CANDIDATE +en Calcification of muscles HP:0100249 rdfs:label nl Calcificatie van spieren CANDIDATE +en Calcification of ribs HP:0040059 rdfs:label nl Calcificaties van de ribben CANDIDATE +en Calcification of the aorta HP:0004963 rdfs:label nl Calcificatie van de aorta CANDIDATE +en Calcification of the auricular cartilage HP:0005103 rdfs:label nl Calcificatie van auriculair kraakbeen CANDIDATE +en Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax HP:0006646 IAO:0000115 nl Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax NOT_TRANSLATED +en Calcification of the interosseus membrane of the forearm HP:0030267 rdfs:label nl Calcification of the interosseus membrane of the forearm NOT_TRANSLATED +en Calcification of the small brain vessels HP:0002504 rdfs:label nl Calcificatie van de vaten van het cerebellum CANDIDATE +en Calcification within the adrenal glands HP:0010512 IAO:0000115 nl Calcification within the adrenal glands NOT_TRANSLATED +en Calcification, that is, pathological deposition of calcium salts in the aorta HP:0004963 IAO:0000115 nl Calcification, that is, pathological deposition of calcium salts in the aorta NOT_TRANSLATED +en Calcification, that is, pathological deposition of calcium salts in the arch of aorta HP:0005303 IAO:0000115 nl Calcification, that is, pathological deposition of calcium salts in the arch of aorta NOT_TRANSLATED +en Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries HP:0012456 IAO:0000115 nl Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries NOT_TRANSLATED +en Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries HP:0004966 IAO:0000115 nl Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries NOT_TRANSLATED +en Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries HP:0012457 IAO:0000115 nl Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries NOT_TRANSLATED +en Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries HP:0012458 IAO:0000115 nl Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries NOT_TRANSLATED +en Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body HP:0004940 IAO:0000115 nl Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body NOT_TRANSLATED +en Calcified amorphous tumor of the heart HP:0031351 rdfs:label nl Gecalcificeerde amorfe tumor van het hart CANDIDATE +en Calcified deposits in soft tissue structures outside a joint HP:0025477 IAO:0000115 nl Calcified deposits in soft tissue structures outside a joint NOT_TRANSLATED +en Calcified ovarian cyst HP:0030425 rdfs:label nl Gecalcificeerde ovarium cyste CANDIDATE +en Calcified placenta HP:0011415 rdfs:label nl Gecalcificeerde placenta CANDIDATE +en Calcinosis HP:0003761 rdfs:label nl Calcinose CANDIDATE +en Calcinosis cutis HP:0025520 rdfs:label nl Calcinosis cutis CANDIDATE +en Calcium carbonate crystalluria HP:0020146 rdfs:label nl Calcium carbonate crystalluria NOT_TRANSLATED +en Calcium channel antibody positivity HP:0030209 rdfs:label nl Calcium channel antibody positivity NOT_TRANSLATED +en Calcium channel blocker exposure HP:4000119 rdfs:label nl Calcium channel blocker exposure NOT_TRANSLATED +en Calcium deposition affecting the Meninges HP:0100250 IAO:0000115 nl Calcium deposition affecting the Meninges NOT_TRANSLATED +en Calcium deposition in the myocardium HP:0006690 IAO:0000115 nl Calcium deposition in the myocardium NOT_TRANSLATED +en Calcium deposition in the thalamus HP:0025041 IAO:0000115 nl Calcium deposition in the thalamus NOT_TRANSLATED +en Calcium nephrolithiasis HP:0004724 rdfs:label nl Calcium nephrolithiasis CANDIDATE +en Calcium oxalate crystalluria HP:0020145 rdfs:label nl Calcium oxalate crystalluria NOT_TRANSLATED +en Calcium oxalate nephrolithiasis HP:0008672 rdfs:label nl Calciumoxalaat nefrolithiase CANDIDATE +en Calcium phosphate crystalluria HP:0020144 rdfs:label nl Calcium phosphate crystalluria NOT_TRANSLATED +en Calcium phosphate nephrolithiasis HP:0012580 rdfs:label nl Calciumfosfaat nefrolithiase CANDIDATE +en Calf muscle hypertrophy HP:0008981 rdfs:label nl Kuitspier hypertrofie CANDIDATE +en Calf muscle hypoplasia HP:0008962 rdfs:label nl Kuitspier hypoplasie CANDIDATE +en Calf muscle pseudohypertrophy HP:0003707 rdfs:label nl Kuitspier pseudohypertrofie CANDIDATE +en Calvarial hyperostosis HP:0004490 rdfs:label nl Exostose van schedeldak CANDIDATE +en Calvarial osteosclerosis HP:0005450 rdfs:label nl Calvariale osteosclerose CANDIDATE +en Calvarial skull defect HP:0001362 rdfs:label nl Calvariaal schedel defect CANDIDATE +en Camptocormia HP:0100595 rdfs:label nl Camptocormie CANDIDATE +en Camptodactyly HP:0012385 rdfs:label nl Camptodactylie CANDIDATE +en Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes HP:0001836 IAO:0000115 nl Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes NOT_TRANSLATED +en Camptodactyly of 2nd-5th fingers HP:0001215 rdfs:label nl Camptodactylie van 2e-5e vingers CANDIDATE +en Camptodactyly of finger HP:0100490 rdfs:label nl Camptodactylie van vinger CANDIDATE +en Camptodactyly of toe HP:0001836 rdfs:label nl Camptodactylie van teen CANDIDATE +en Candida esophagitis HP:0033351 rdfs:label nl Candida esophagitis NOT_TRANSLATED +en Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain HP:0033351 IAO:0000115 nl Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain NOT_TRANSLATED +en Capillary fragility HP:0025017 rdfs:label nl Capillaire fragiliteit CANDIDATE +en Capillary hemangioma HP:0005306 rdfs:label nl Capillaire hemangiomen CANDIDATE +en Capillary leak HP:0030005 rdfs:label nl Capillair lek CANDIDATE +en Capillary malformation HP:0025104 rdfs:label nl Capillaire malformatie CANDIDATE +en Capillary malformation of the lip HP:0031487 rdfs:label nl Capillaire malformatie van de lip CANDIDATE +en Capitate-hamate fusion HP:0001241 rdfs:label nl Capitatum-hamatum fusie CANDIDATE +en Capsular cataract HP:0100017 rdfs:label nl Capsulair cataract CANDIDATE +en Caput medusae HP:0025203 rdfs:label nl Caput medusae CANDIDATE +en Carbamazepine exposure HP:4000116 rdfs:label nl Carbamazepine exposure NOT_TRANSLATED +en Carbuncle HP:0020084 rdfs:label nl Carbuncle NOT_TRANSLATED +en Carcinoid tumor HP:0100570 rdfs:label nl Carcinoïd tumor CANDIDATE +en Carcinoma HP:0030731 rdfs:label nl Carcinoom CANDIDATE +en Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk HP:0030394 IAO:0000115 nl Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk NOT_TRANSLATED +en Cardiac amyloidosis HP:0030843 rdfs:label nl Cardiale amyloidose CANDIDATE +en Cardiac arrest HP:0001695 rdfs:label nl Hartstilstand CANDIDATE +en Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it HP:0031628 IAO:0000115 nl Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it NOT_TRANSLATED +en Cardiac conduction abnormality HP:0031546 rdfs:label nl Cardiale geleidings afwijking CANDIDATE +en Cardiac diverticulum HP:0100571 rdfs:label nl Cardiaal divertikel CANDIDATE +en Cardiac fibroma HP:0010617 rdfs:label nl Cardial fibroom CANDIDATE +en Cardiac hemangioma HP:0011673 rdfs:label nl Cardiaal hemangioom CANDIDATE +en Cardiac myxoma HP:0011672 rdfs:label nl Cardiaal myxoom CANDIDATE +en Cardiac rhabdomyoma HP:0009729 rdfs:label nl Cardiaal rhabdomyoom CANDIDATE +en Cardiac sarcoma HP:0031350 rdfs:label nl Cardiaal sarcoom CANDIDATE +en Cardiac shunt HP:0001693 rdfs:label nl Cardiale shunt CANDIDATE +en Cardiac tamponade HP:0033415 rdfs:label nl Cardiac tamponade NOT_TRANSLATED +en Cardiac teratoma HP:0011674 rdfs:label nl Cardiaal teratoom CANDIDATE +en Cardiac total anomalous pulmonary venous connection HP:0011720 rdfs:label nl Cardiac total anomalous pulmonary venous connection NOT_TRANSLATED +en Cardiac valve calcification HP:0005146 rdfs:label nl Verkalking van de hartklep CANDIDATE +en Cardiogenic shock HP:0030149 rdfs:label nl Cardiogene schok CANDIDATE +en Cardiomegaly HP:0001640 rdfs:label nl Cardiomegalie CANDIDATE +en Cardiomyocyte degeneration HP:0031332 rdfs:label nl Cardiomyocyt degeneratie CANDIDATE +en Cardiomyocyte hypertrophy HP:0031319 rdfs:label nl Cardiomyocyt hypertrofie CANDIDATE +en Cardiomyocyte inclusion bodies HP:0031334 rdfs:label nl Cardiomyocyte inclusion bodies NOT_TRANSLATED +en Cardiomyocyte mitochondrial proliferation HP:0031320 rdfs:label nl Cardiomyocyt mitochondriale proliferatie CANDIDATE +en Cardiomyopathy HP:0001638 rdfs:label nl Cardiomyopathie CANDIDATE +en Cardiorespiratory arrest HP:0006543 rdfs:label nl Hart- en ademstilstand CANDIDATE +en Cardiovascular calcification HP:0011915 rdfs:label nl Cardiovasculaire calcificatie CANDIDATE +en Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries HP:0000670 IAO:0000115 nl Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries NOT_TRANSLATED +en Carious teeth HP:0000670 rdfs:label nl Carieuze tanden CANDIDATE +en Carnitinuria HP:0020077 rdfs:label nl Carnitinuria NOT_TRANSLATED +en Carnosinuria HP:0003167 rdfs:label nl Carnosinurie CANDIDATE +en Carotid artery calcification HP:0031314 rdfs:label nl Arteria carotis calcificatie CANDIDATE +en Carotid artery dilatation HP:0012163 rdfs:label nl Arteria carotis dilatatie CANDIDATE +en Carotid artery dissection HP:0012158 rdfs:label nl Arteria carotis dissectie CANDIDATE +en Carotid artery occlusion HP:0012474 rdfs:label nl Arteria carotis occlusie CANDIDATE +en Carotid artery stenosis HP:0100546 rdfs:label nl Arteria carotis stenose CANDIDATE +en Carotid artery tortuosity HP:0005302 rdfs:label nl Tortuositeit van de halsslagader CANDIDATE +en Carotid cavernous fistula HP:0031157 rdfs:label nl Carotid cavernous fistula NOT_TRANSLATED +en Carotid paraganglioma HP:0100635 rdfs:label nl Arteria carotis paraganglioom CANDIDATE +en Carotid sinus syncope HP:0012669 rdfs:label nl Sinus caroticus syncope CANDIDATE +en Carpal bone aplasia HP:0004231 rdfs:label nl Aplasie van de carpale botten CANDIDATE +en Carpal bone hypoplasia HP:0001498 rdfs:label nl Hypoplasie van carpale botten CANDIDATE +en Carpal bone malsegmentation HP:0005776 rdfs:label nl Carpale botten malsegmentatie CANDIDATE +en Carpal bones with irregular or fragmented margins HP:0004236 IAO:0000115 nl Carpal bones with irregular or fragmented margins NOT_TRANSLATED +en Carpal osteolysis HP:0001495 rdfs:label nl Carpale osteolyse CANDIDATE +en Carpal synostosis HP:0009702 rdfs:label nl Carpale synostose CANDIDATE +en Carpometacarpal synostosis HP:0100328 rdfs:label nl Carpometacarpale synostose CANDIDATE +en Cartilage destruction HP:0100773 rdfs:label nl Kraakbeen vernietiging CANDIDATE +en Cartilaginous ossification of larynx HP:0008747 rdfs:label nl Kraakbeenachtige ossificatie van larynx CANDIDATE +en Cartilaginous ossification of nose HP:0005275 rdfs:label nl Kraakbeenachtige ossificatie van neus CANDIDATE +en Cartilaginous tracheobronchomalacia HP:0033990 rdfs:label nl Cartilaginous tracheobronchomalacia NOT_TRANSLATED +en Caseous vernix-like desquamation HP:0025724 rdfs:label nl Caseous vernix-like desquamation NOT_TRANSLATED +en Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected HP:0003745 IAO:0000115 nl Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected NOT_TRANSLATED +en Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells HP:0032634 IAO:0000115 nl Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells NOT_TRANSLATED +en Casts that contain red blood cells and are located within the tubuli of the kidney HP:0032625 IAO:0000115 nl Casts that contain red blood cells and are located within the tubuli of the kidney NOT_TRANSLATED +en Casts that contain white blood cells and are located within the tubuli of the kidney HP:0032627 IAO:0000115 nl Casts that contain white blood cells and are located within the tubuli of the kidney NOT_TRANSLATED +en Cat cry HP:0200046 rdfs:label nl Huil als kat CANDIDATE +en Cataplexy HP:0002524 rdfs:label nl Kataplexie CANDIDATE +en Cataract HP:0000518 rdfs:label nl Cataract CANDIDATE +en Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110) HP:4000042 IAO:0000115 nl Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110) NOT_TRANSLATED +en Caudal appendage HP:0002825 rdfs:label nl Caudaal aanhangsel CANDIDATE +en Caudal interpedicular narrowing HP:0008457 rdfs:label nl Caudale interpediculaire vernauwing CANDIDATE +en Caudate atrophy HP:0002340 rdfs:label nl Caudatus atrofie CANDIDATE +en Cauliflower deformity of dermal collagen fibrils HP:0031519 rdfs:label nl Cauliflower deformity of dermal collagen fibrils NOT_TRANSLATED +en Cautious gait HP:0031953 rdfs:label nl Cautious gait NOT_TRANSLATED +en Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen HP:0031953 IAO:0000115 nl Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen NOT_TRANSLATED +en Cavernous hemangioma HP:0001048 rdfs:label nl Caverneus hemangioom CANDIDATE +en Cavernous hemangioma of the face HP:0007486 rdfs:label nl Caverneus hemangioom van het gezicht CANDIDATE +en Cavitating leukodystrophy HP:0033369 rdfs:label nl Cavitating leukodystrophy NOT_TRANSLATED +en Cavitating pulmonary mass HP:0033831 rdfs:label nl Cavitating pulmonary mass NOT_TRANSLATED +en Cavitating pulmonary nodule HP:0034015 rdfs:label nl Cavitating pulmonary nodule NOT_TRANSLATED +en Cavitation of the basal ganglia HP:0007007 rdfs:label nl Cavitatie van de basale ganglia CANDIDATE +en Cavum septum pellucidum HP:0002389 rdfs:label nl Cavum septum pellucidum CANDIDATE +en Celiac artery compression HP:0012327 rdfs:label nl Truncus coeliacus compressie CANDIDATE +en Celiac artery dissection HP:0033982 rdfs:label nl Celiac artery dissection NOT_TRANSLATED +en Celiac disease HP:0002608 rdfs:label nl Coeliakie CANDIDATE +en Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases HP:0002608 IAO:0000115 nl Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases NOT_TRANSLATED +en Cell death (necrosis) affecting one or more parts of the kidney HP:0032618 IAO:0000115 nl Cell death (necrosis) affecting one or more parts of the kidney NOT_TRANSLATED +en Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney HP:0033938 IAO:0000115 nl Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED +en Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney HP:0033935 IAO:0000115 nl Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED +en Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney HP:0033969 IAO:0000115 nl Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney NOT_TRANSLATED +en Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney HP:0033942 IAO:0000115 nl Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED +en Cellular accumulation of GM1 gangliosides HP:0020160 IAO:0000115 nl Cellular accumulation of GM1 gangliosides NOT_TRANSLATED +en Cellular accumulation of GM2 gangliosides HP:0003495 IAO:0000115 nl Cellular accumulation of GM2 gangliosides NOT_TRANSLATED +en Cellular crescent HP:0033317 rdfs:label nl Cellular crescent NOT_TRANSLATED +en Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components HP:0033243 IAO:0000115 nl Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components NOT_TRANSLATED +en Cellular hypersensitivity to diepoxybutane HP:0032189 rdfs:label nl Cellular hypersensitivity to diepoxybutane NOT_TRANSLATED +en Cellular hypersensitivity to mitomycin C HP:0032188 rdfs:label nl Cellular hypersensitivity to mitomycin C NOT_TRANSLATED +en Cellular immunodeficiency HP:0005374 rdfs:label nl Cellulaire immuundeficiëntie CANDIDATE +en Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination HP:0032023 IAO:0000115 nl Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination NOT_TRANSLATED +en Cellular infiltration of the liver parenchyma with a preponderance of eosinophils HP:0032021 IAO:0000115 nl Cellular infiltration of the liver parenchyma with a preponderance of eosinophils NOT_TRANSLATED +en Cellular metachromasia HP:0003653 rdfs:label nl Cellulaire metachromasie CANDIDATE +en Cellular non-specific interstitial pneumonia HP:0033586 rdfs:label nl Cellular non-specific interstitial pneumonia NOT_TRANSLATED +en Cellular urinary casts HP:0031197 rdfs:label nl Cellulaire cilinders CANDIDATE +en Cellulitis HP:0100658 rdfs:label nl Cellulitis CANDIDATE +en Cementoma HP:0012328 rdfs:label nl Cementoom CANDIDATE +en Cementum hypoplasia HP:0033787 rdfs:label nl Cementum hypoplasia NOT_TRANSLATED +en Cementum overgrowth HP:0033788 rdfs:label nl Cementum overgrowth NOT_TRANSLATED +en Centered in bronchi or bronchioles HP:0033815 IAO:0000115 nl Centered in bronchi or bronchioles NOT_TRANSLATED +en Central HP:0030645 rdfs:label nl Centraal CANDIDATE +en Central Y-shaped metacarpal HP:0006145 rdfs:label nl Centrale Y-vormige metacarpaal CANDIDATE +en Central adrenal insufficiency HP:0011734 rdfs:label nl Centrale bijnierinsufficiëntie CANDIDATE +en Central apnea HP:0002871 rdfs:label nl Centrale apnoe CANDIDATE +en Central core regions in muscle fibers HP:0030230 rdfs:label nl Central core regions in muscle fibers NOT_TRANSLATED +en Central corneal dystrophy HP:0007881 rdfs:label nl Centrale cornea dystrofie CANDIDATE +en Central cyanosis HP:0034032 rdfs:label nl Central cyanosis NOT_TRANSLATED +en Central diabetes insipidus HP:0000863 rdfs:label nl Centrale diabetes insipidus CANDIDATE +en Central diaphragmatic hernia HP:0025195 rdfs:label nl Centraal hernia diafragmatica CANDIDATE +en Central fundal arteriolar microaneurysms HP:0008014 rdfs:label nl Centrale fundus arteriolaire microaneurysmas CANDIDATE +en Central heterochromia HP:0007818 rdfs:label nl Centrale heterochromie CANDIDATE +en Central hypothyroidism HP:0011787 rdfs:label nl Centrale hypothyreoïdie CANDIDATE +en Central hypoventilation HP:0007110 rdfs:label nl Centrale hypoventilatie CANDIDATE +en Central nail canal HP:0030818 rdfs:label nl Central nail canal NOT_TRANSLATED +en Central nervous system axonal spheroid HP:0034381 rdfs:label nl Central nervous system axonal spheroid NOT_TRANSLATED +en Central nervous system cyst HP:0030724 rdfs:label nl Centrale zenuwstelsel cyste CANDIDATE +en Central nervous system degeneration HP:0007009 rdfs:label nl Centrale zenuwstelsel degeneratie CANDIDATE +en Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes HP:0002480 IAO:0000115 nl Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes NOT_TRANSLATED +en Central opacification of the cornea HP:0011493 rdfs:label nl Centrale opacificatie van de cornea CANDIDATE +en Central posterior corneal opacity HP:0008511 rdfs:label nl Centrale posterieure corneale opaciteit CANDIDATE +en Central primitive neuroectodermal tumor HP:0030070 rdfs:label nl Centrale primitieve neuroectodermale tumor CANDIDATE +en Central retinal artery occlusion HP:0025342 rdfs:label nl Arteria centralis retinae occlusie CANDIDATE +en Central retinal exudate HP:0007822 rdfs:label nl Centraal retinaal exsudaat CANDIDATE +en Central retinal vein occlusion HP:0020166 rdfs:label nl Central retinal vein occlusion NOT_TRANSLATED +en Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis HP:0020166 IAO:0000115 nl Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis NOT_TRANSLATED +en Central retinal vessel vascular tortuosity HP:0007768 rdfs:label nl Centrale retinale vasculaire kronkeligheid CANDIDATE +en Central scotoma HP:0000603 rdfs:label nl Centraal Scotoom CANDIDATE +en Central serous chorioretinopathy HP:0025567 rdfs:label nl Centrale sereuze chorioretinopathie CANDIDATE +en Central sleep apnea HP:0010536 rdfs:label nl Centrale slaap-apneu CANDIDATE +en Central vertebral hypoplasia HP:0008463 rdfs:label nl Centrale vertebrale hypoplasie CANDIDATE +en Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome HP:0031948 IAO:0000115 nl Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome NOT_TRANSLATED +en Centrally nucleated skeletal muscle fibers HP:0003687 rdfs:label nl Centraal genucleëerde skeletspiervezels CANDIDATE +en Centrilobular HP:0033816 rdfs:label nl Centrilobular NOT_TRANSLATED +en Centrilobular emphysema HP:0032966 rdfs:label nl Centrilobular emphysema NOT_TRANSLATED +en Centrilobular ground-glass opacification on pulmonary HRCT HP:0025180 rdfs:label nl Centrilobular ground-glass opacification on pulmonary HRCT NOT_TRANSLATED +en Centrocecal scotoma HP:0000576 rdfs:label nl Centrocoecaal scotoom CANDIDATE +en Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve HP:0002315 IAO:0000115 nl Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve NOT_TRANSLATED +en Cephalocele HP:0011815 rdfs:label nl Cefalocele CANDIDATE +en Cephalohematoma HP:0012541 rdfs:label nl Cefaal hematoom CANDIDATE +en Cerebellar Purkinje layer atrophy HP:0012082 rdfs:label nl Atrofie laag van Purkinje in cerebellum CANDIDATE +en Cerebellar agenesis HP:0012642 rdfs:label nl Cerebellaire agenesie CANDIDATE +en Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles HP:0012642 IAO:0000115 nl Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles NOT_TRANSLATED +en Cerebellar ataxia associated with quadrupedal gait HP:0009878 rdfs:label nl Cerebellaire ataxie geassocieerd met quadrupedale gang CANDIDATE +en Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly) HP:0001251 IAO:0000115 nl Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly) NOT_TRANSLATED +en Cerebellar atrophy HP:0001272 rdfs:label nl Cerebellaire atrofie CANDIDATE +en Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event HP:0001272 IAO:0000115 nl Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event NOT_TRANSLATED +en Cerebellar calcifications HP:0007352 rdfs:label nl Cerebellaire calcificaties CANDIDATE +en Cerebellar cortical atrophy HP:0008278 rdfs:label nl Cerebellaire corticale atrofie CANDIDATE +en Cerebellar cyst HP:0002350 rdfs:label nl Cerebellaire cyste CANDIDATE +en Cerebellar dysplasia HP:0007033 rdfs:label nl Cerebellaire dysplasie CANDIDATE +en Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts HP:0007033 IAO:0000115 nl Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts NOT_TRANSLATED +en Cerebellar edema HP:0030915 rdfs:label nl Cerebellair oedeem CANDIDATE +en Cerebellar glioma HP:0010795 rdfs:label nl Cerebellair glioom CANDIDATE +en Cerebellar gliosis HP:0012698 rdfs:label nl Cerebellaire gliosis CANDIDATE +en Cerebellar granular layer atrophy HP:0012080 rdfs:label nl Cerebellar granular layer atrophy NOT_TRANSLATED +en Cerebellar hemangioblastoma HP:0006880 rdfs:label nl Cerebellair hemangioblastoom CANDIDATE +en Cerebellar hemisphere hypoplasia HP:0100307 rdfs:label nl Hypoplasie van de vermis CANDIDATE +en Cerebellar hemorrhage HP:0011695 rdfs:label nl Cerebellaire bloeding CANDIDATE +en Cerebellar hypoplasia HP:0001321 rdfs:label nl Cerebellaire hypoplasie CANDIDATE +en Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time HP:0001321 IAO:0000115 nl Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time NOT_TRANSLATED +en Cerebellar malformation HP:0002438 rdfs:label nl Cerebellaire malformatie CANDIDATE +en Cerebellar medulloblastoma HP:0007129 rdfs:label nl Cerebellair medulloblastoom CANDIDATE +en Cerebellar vermis atrophy HP:0006855 rdfs:label nl Cerebellaire vermis atrofie CANDIDATE +en Cerebellar vermis hypoplasia HP:0001320 rdfs:label nl Hypoplasie van de vermis CANDIDATE +en Cerebellopontine angle arachnoid cyst HP:0012487 rdfs:label nl Cerebellopontine angle arachnoid cyst NOT_TRANSLATED +en Cerebral amyloid angiopathy HP:0011970 rdfs:label nl Cerebrale amyloid angiopathie CANDIDATE +en Cerebral arteriovenous malformation HP:0002408 rdfs:label nl Cerebrale arterioveneuze malformatie CANDIDATE +en Cerebral artery atherosclerosis HP:0007201 rdfs:label nl Cerebrale arterie atherosclerose CANDIDATE +en Cerebral artery calcification HP:0031309 rdfs:label nl Cerebrale arterie calcificatie CANDIDATE +en Cerebral artery stenosis HP:0012492 rdfs:label nl Cerebrale arterie stenose CANDIDATE +en Cerebral atrophy HP:0002059 rdfs:label nl Cerebrale atrofie CANDIDATE +en Cerebral berry aneurysm HP:0007029 rdfs:label nl Cerebraal berry aneurysma CANDIDATE +en Cerebral calcification HP:0002514 rdfs:label nl Cerebrale calcificatie CANDIDATE +en Cerebral cavernous malformation HP:0033522 rdfs:label nl Cerebral cavernous malformation NOT_TRANSLATED +en Cerebral cortex with spongiform changes HP:0006790 rdfs:label nl Cerebrale cortex met spongiforme veranderingen CANDIDATE +en Cerebral cortical atrophy HP:0002120 rdfs:label nl Cerebrale corticale atrofie CANDIDATE +en Cerebral cortical hemiatrophy HP:0100308 rdfs:label nl Cerebrale corticale hemiatrophy CANDIDATE +en Cerebral cortical microinfarct HP:0025714 rdfs:label nl Cerebral cortical microinfarct NOT_TRANSLATED +en Cerebral cortical neurodegeneration HP:0006964 rdfs:label nl Cerebrale corticale neurodegeneratie CANDIDATE +en Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life HP:0002416 IAO:0000115 nl Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life NOT_TRANSLATED +en Cerebral degeneration HP:0007313 rdfs:label nl Cerebrale degeneratie CANDIDATE +en Cerebral dysmyelination HP:0007266 rdfs:label nl Cerebrale dysmyelinisatie CANDIDATE +en Cerebral edema HP:0002181 rdfs:label nl Cerebraal oedeem CANDIDATE +en Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance HP:0100319 IAO:0000115 nl Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance NOT_TRANSLATED +en Cerebral germinoma HP:0100312 rdfs:label nl Cerebraal germinoom CANDIDATE +en Cerebral granulomatosis HP:0100313 rdfs:label nl Cerebrale granulomatose CANDIDATE +en Cerebral hamartoma HP:0009731 rdfs:label nl Cerebrale hamartomen CANDIDATE +en Cerebral hemorrhage HP:0001342 rdfs:label nl Hersenbloeding CANDIDATE +en Cerebral hemorrhage that occurs before birth HP:0007023 IAO:0000115 nl Cerebral hemorrhage that occurs before birth NOT_TRANSLATED +en Cerebral hyaline bodies HP:0100319 rdfs:label nl Cerebrale hyaline bodies CANDIDATE +en Cerebral hypomyelination HP:0006808 rdfs:label nl Cerebrale hypomyelinisatie CANDIDATE +en Cerebral hypoplasia HP:0006872 rdfs:label nl Cerebrale hypoplasie CANDIDATE +en Cerebral inclusion bodies HP:0100314 rdfs:label nl Cerebrale inclusielichaampjes CANDIDATE +en Cerebral infarct HP:0025722 rdfs:label nl Cerebral infarct NOT_TRANSLATED +en Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells HP:0100313 IAO:0000115 nl Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells NOT_TRANSLATED +en Cerebral ischemia HP:0002637 rdfs:label nl Cerebrale ischemie CANDIDATE +en Cerebral palsy HP:0100021 rdfs:label nl Cerebrale parese CANDIDATE +en Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems HP:0100021 IAO:0000115 nl Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems NOT_TRANSLATED +en Cerebral vasculitis HP:0005318 rdfs:label nl Cerebrale vasculitis CANDIDATE +en Cerebral venous angioma HP:0012481 rdfs:label nl Cerebraal veneus angioom CANDIDATE +en Cerebral venous sinus thrombosis HP:0033724 rdfs:label nl Cerebral venous sinus thrombosis NOT_TRANSLATED +en Cerebral venous thrombosis HP:0005305 rdfs:label nl Cerebrale veneuze trombose CANDIDATE +en Cerebral ventricular adhesions HP:0100311 rdfs:label nl Cerebrale ventriculaire adhesies CANDIDATE +en Cerebral visual impairment HP:0100704 rdfs:label nl Corticale visuele beperking CANDIDATE +en Cerebral white matter agenesis HP:0200017 rdfs:label nl Agenesie van de cerebrale witte stof CANDIDATE +en Cerebral white matter atrophy HP:0012762 rdfs:label nl Atrofie van de cerebrale witte stof CANDIDATE +en Cerebral white matter hypoplasia HP:0012430 rdfs:label nl Hypoplasie van de cerebrale witte stof CANDIDATE +en Cerebrospinal fluid rhinorrhoea HP:0030998 rdfs:label nl Liquor rhinorrhoe CANDIDATE +en Cerulean cataract HP:0007976 rdfs:label nl Cataracta caerulea CANDIDATE +en Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary HP:0007976 IAO:0000115 nl Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary NOT_TRANSLATED +en Cerumen abnormality HP:0030787 rdfs:label nl Cerumen afwijking CANDIDATE +en Cervical (neck) HP:0032535 rdfs:label nl Cervical (neck) NOT_TRANSLATED +en Cervical C2/C3 vertebral fusion HP:0004602 rdfs:label nl Cervicale C2/C3 wervelfusie CANDIDATE +en Cervical C3/C4 vertebral fusion HP:0030281 rdfs:label nl Cervicale wervel C3/C4-fusie CANDIDATE +en Cervical C5/C6 vertebrae fusion HP:0004635 rdfs:label nl Cervicale C5/C6 wervelfusie CANDIDATE +en Cervical agenesis HP:0030008 rdfs:label nl Cervix agenesie CANDIDATE +en Cervical aortic arch HP:0011588 rdfs:label nl Cervicale aortaboog CANDIDATE +en Cervical clear cell adenocarcinoma HP:0031522 rdfs:label nl Clear cel adenocarcinoom van de cervix CANDIDATE +en Cervical cord compression HP:0002341 rdfs:label nl Cervicale ruggenmerg compressie CANDIDATE +en Cervical dysplasia HP:0032131 rdfs:label nl Cervical dysplasia NOT_TRANSLATED +en Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium HP:0032131 IAO:0000115 nl Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium NOT_TRANSLATED +en Cervical ectopia cordis HP:0011583 rdfs:label nl Cervicale ectopia cordis CANDIDATE +en Cervical ectropion HP:0030158 rdfs:label nl Cervicaal ectropion CANDIDATE +en Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu HP:0030158 IAO:0000115 nl Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu NOT_TRANSLATED +en Cervical endometriosis HP:0012889 rdfs:label nl Cervicale endometriose CANDIDATE +en Cervical hemivertebrae HP:0025481 rdfs:label nl Cervicale hemivertebrae CANDIDATE +en Cervical instability HP:0008462 rdfs:label nl Cervicale instabiliteit CANDIDATE +en Cervical insufficiency HP:0030009 rdfs:label nl Cervixinsufficiëntie CANDIDATE +en Cervical intraepithelial neoplasia HP:0032242 rdfs:label nl Cervical intraepithelial neoplasia NOT_TRANSLATED +en Cervical kyphosis HP:0002947 rdfs:label nl Cervicale kyfose CANDIDATE +en Cervical lymphadenopathy HP:0025289 rdfs:label nl Cervicale lymfadenopathie CANDIDATE +en Cervical myelopathy HP:0002318 rdfs:label nl Cervicale myelopathie CANDIDATE +en Cervical neoplasm HP:0032241 rdfs:label nl Cervical neoplasm NOT_TRANSLATED +en Cervical platyspondyly HP:0004558 rdfs:label nl Cervicale platyspondylie CANDIDATE +en Cervical polyp HP:0030159 rdfs:label nl Cervicale poliep CANDIDATE +en Cervical ribs HP:0000891 rdfs:label nl Cervicale ribben CANDIDATE +en Cervical segmentation defect HP:0004632 rdfs:label nl Cervicaal segmentatie defect CANDIDATE +en Cervical spina bifida HP:0005857 rdfs:label nl Cervicale spina bifida CANDIDATE +en Cervical spinal canal stenosis HP:0008445 rdfs:label nl Cervicale wervelkanaalstenose CANDIDATE +en Cervical spinal cord atrophy HP:0010873 rdfs:label nl Atrofie van het cervicale ruggenmerg CANDIDATE +en Cervical spine hypermobility HP:0003318 rdfs:label nl Cervicale wervelkolom hypermobiliteit CANDIDATE +en Cervical spine instability HP:0010646 rdfs:label nl Instabiliteit van de cervicale wervelkolom CANDIDATE +en Cervical spondylosis HP:0008480 rdfs:label nl Cervicale spondylose CANDIDATE +en Cervical squamous cell papilloma HP:4000153 rdfs:label nl Cervical squamous cell papilloma NOT_TRANSLATED +en Cervical subluxation HP:0003308 rdfs:label nl Cervicale Subluxatie CANDIDATE +en Cervical vertebral agenesis HP:0008459 rdfs:label nl Cervicale vertebrale agenesie CANDIDATE +en Cervical vertebral bodies with decreased anteroposterior diameter HP:0008483 rdfs:label nl Cervicale wervellichamen met verminderde anterio-posterieure diameter CANDIDATE +en Cervical vertebral dysplasia HP:0008469 rdfs:label nl Cervicale vertebrale dysplasie CANDIDATE +en Cervical vertebral facet hypoplasia HP:0008461 rdfs:label nl Cervicale wervel facet hypoplasie CANDIDATE +en Cervicitis HP:0030160 rdfs:label nl Cervicitis CANDIDATE +en Cervicomedullary schisis HP:0030325 rdfs:label nl Cervicomedullaire schisis CANDIDATE +en Cervix cancer HP:0030079 rdfs:label nl Baarmoederhalskanker CANDIDATE +en Cessation of head growth HP:0004485 rdfs:label nl Stoppen van de hoofdgroei CANDIDATE +en Cessation of life at the age of 16 years or later HP:0033763 IAO:0000115 nl Cessation of life at the age of 16 years or later NOT_TRANSLATED +en Chaddock reflex HP:0010875 rdfs:label nl Chaddock reflex CANDIDATE +en Chalazion HP:0010605 rdfs:label nl Chalazion CANDIDATE +en Champagne cork sign HP:0034226 rdfs:label nl Champagne cork sign NOT_TRANSLATED +en Change in normal glycogen storage content HP:0500030 IAO:0000115 nl Change in normal glycogen storage content NOT_TRANSLATED +en Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14] HP:0030824 IAO:0000115 nl Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14] NOT_TRANSLATED +en Changes in alignment of teeth in the dental arch HP:0000678 IAO:0000115 nl Changes in alignment of teeth in the dental arch NOT_TRANSLATED +en Chaotic multifocal atrial tachycardia HP:0011725 rdfs:label nl Chaotische multifocale atriale tachycardie CANDIDATE +en Chaotic rapid conjugate ocular movements HP:0007295 rdfs:label nl Chaotische snelle geconjugeerde oogbewegingen CANDIDATE +en Chapped lip HP:0040181 rdfs:label nl Schrale lip CANDIDATE +en Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding HP:0034226 IAO:0000115 nl Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding NOT_TRANSLATED +en Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages HP:0032953 IAO:0000115 nl Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages NOT_TRANSLATED +en Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait HP:0001300 IAO:0000115 nl Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait NOT_TRANSLATED +en Characterized by numerous small lesions said to resemble millet seed HP:0033817 IAO:0000115 nl Characterized by numerous small lesions said to resemble millet seed NOT_TRANSLATED +en Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa HP:0033814 IAO:0000115 nl Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa NOT_TRANSLATED +en Cheilitis HP:0100825 rdfs:label nl Cheilitis CANDIDATE +en Chemodectoma HP:0030074 rdfs:label nl Chemodectoom CANDIDATE +en Chemosis HP:0012375 rdfs:label nl Chemose CANDIDATE +en Cherry red spot of the macula HP:0010729 rdfs:label nl Kersrode macula CANDIDATE +en Chess-pawn distal phalanges HP:0006170 rdfs:label nl Chess-pawn distal phalanges NOT_TRANSLATED +en Chest pain HP:0100749 rdfs:label nl Pijn op de borst CANDIDATE +en Chest tightness HP:0031352 rdfs:label nl Beklemming op de borst CANDIDATE +en Chest wall pain in the area of the costochondral junctions HP:0006649 IAO:0000115 nl Chest wall pain in the area of the costochondral junctions NOT_TRANSLATED +en Cheyne-Stokes respiration HP:0012196 rdfs:label nl Cheyne-Stokes ademhaling CANDIDATE +en Chiari malformation HP:0002308 rdfs:label nl Arnold-Chiari malformatie CANDIDATE +en Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow HP:0002308 IAO:0000115 nl Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow NOT_TRANSLATED +en Chiari type I malformation HP:0007099 rdfs:label nl Arnold-Chiari type 1 malformatie CANDIDATE +en Chiari type II malformation HP:0025660 rdfs:label nl Chiari type II malformation NOT_TRANSLATED +en Chiari type III malformation HP:0025661 rdfs:label nl Chiari type III malformation NOT_TRANSLATED +en Chilblains HP:0009710 rdfs:label nl Chilblain laesies CANDIDATE +en Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks HP:0009710 IAO:0000115 nl Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks NOT_TRANSLATED +en Childhood onset HP:0011463 rdfs:label nl Childhood onset CANDIDATE +en Childhood onset sensorineural hearing impairment HP:0011474 rdfs:label nl Childhood onset perceptieve slechthorendheid CANDIDATE +en Childhood onset short-limb short stature HP:0011405 rdfs:label nl Childhood-onset van korte-ledemaat kleine lengte CANDIDATE +en Childhood-onset short-trunk short stature HP:0008922 rdfs:label nl Childhood-onset van korte-romp kleine lengte CANDIDATE +en Childhood-onset truncal obesity HP:0008915 rdfs:label nl Childhood-onset van truncale obesitas CANDIDATE +en Chills HP:0025143 rdfs:label nl Rillingen CANDIDATE +en Chin myoclonus HP:0012462 rdfs:label nl Kin myoclonus CANDIDATE +en Chin with H-shaped crease HP:0011824 rdfs:label nl Kin met H-vormige plooi CANDIDATE +en Chin with horizontal crease HP:0011823 rdfs:label nl Kin met horizontale plooi CANDIDATE +en Chin with vertical crease HP:0400001 rdfs:label nl Kin met verticale plooi CANDIDATE +en Choanal atresia HP:0000453 rdfs:label nl Choanale atresie CANDIDATE +en Choanal stenosis HP:0000452 rdfs:label nl Choanale stenose CANDIDATE +en Choking episodes HP:0030842 rdfs:label nl Episodes van stikken CANDIDATE +en Cholangiocarcinoma HP:0030153 rdfs:label nl Cholangiocarcinoom CANDIDATE +en Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension HP:0030153 IAO:0000115 nl Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension NOT_TRANSLATED +en Cholangitis HP:0030151 rdfs:label nl Cholangitis CANDIDATE +en Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative HP:0030991 IAO:0000115 nl Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative NOT_TRANSLATED +en Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree HP:0030990 IAO:0000115 nl Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree NOT_TRANSLATED +en Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement HP:0030989 IAO:0000115 nl Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement NOT_TRANSLATED +en Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts HP:0030988 IAO:0000115 nl Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts NOT_TRANSLATED +en Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess) HP:0030987 IAO:0000115 nl Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess) NOT_TRANSLATED +en Cholecystitis HP:0001082 rdfs:label nl Galblaasontsteking (Cholecystitis) CANDIDATE +en Cholelithiasis HP:0001081 rdfs:label nl Cholelithiasis CANDIDATE +en Cholestasis HP:0001396 rdfs:label nl Cholestase CANDIDATE +en Cholestatic liver disease HP:0002611 rdfs:label nl Cholestatische leverziekte CANDIDATE +en Cholesteatoma HP:0009797 rdfs:label nl Cholesteatoom CANDIDATE +en Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear HP:0009797 IAO:0000115 nl Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear NOT_TRANSLATED +en Cholesterol crystalluria HP:0020176 rdfs:label nl Cholesterol crystalluria NOT_TRANSLATED +en Cholesterol emboli within interlobular vein lumen HP:0033856 rdfs:label nl Cholesterol emboli within interlobular vein lumen NOT_TRANSLATED +en Cholesterol gallstones HP:0011980 rdfs:label nl Cholesterol galstenen CANDIDATE +en Chondritis HP:0100662 rdfs:label nl Chondritis CANDIDATE +en Chondritis of pinna HP:0200047 rdfs:label nl Chondritis van oorschelp CANDIDATE +en Chondroblastoma HP:0030432 rdfs:label nl Chondroblastoom CANDIDATE +en Chondrocalcinosis HP:0000934 rdfs:label nl Chondrocalcinose CANDIDATE +en Chondroitin sulfate excretion in urine HP:0012070 rdfs:label nl Chondroïtinesulfaat excretie in de urine CANDIDATE +en Chondrosarcoma HP:0006765 rdfs:label nl Chondrosarcoom CANDIDATE +en Chorangioma HP:0100883 rdfs:label nl Chorangioom CANDIDATE +en Chordee HP:0000041 rdfs:label nl Chordee CANDIDATE +en Chordoma HP:0010762 rdfs:label nl Chordoom CANDIDATE +en Chorea HP:0002072 rdfs:label nl Chorea CANDIDATE +en Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities HP:0002072 IAO:0000115 nl Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities NOT_TRANSLATED +en Choreoathetosis HP:0001266 rdfs:label nl Choreo-athetose CANDIDATE +en Choriocapillaris atrophy HP:0030491 rdfs:label nl Choriocapillaris atrofie CANDIDATE +en Choriocarcinoma HP:0100768 rdfs:label nl Choriocarcinoom CANDIDATE +en Chorioretinal atrophy HP:0000533 rdfs:label nl Chorioretinale atrofie CANDIDATE +en Chorioretinal atrophy along the retinal veins HP:0007903 IAO:0000115 nl Chorioretinal atrophy along the retinal veins NOT_TRANSLATED +en Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head) HP:0007950 IAO:0000115 nl Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head) NOT_TRANSLATED +en Chorioretinal coloboma HP:0000567 rdfs:label nl Chorioretinaal coloboom CANDIDATE +en Chorioretinal degeneration HP:0200065 rdfs:label nl Chorioretinale degeneratie CANDIDATE +en Chorioretinal dysplasia HP:0007731 rdfs:label nl Chorioretinale dysplasie CANDIDATE +en Chorioretinal dystrophy HP:0001135 rdfs:label nl Chorioretinale dystrofie CANDIDATE +en Chorioretinal hyperpigmentation HP:0040031 rdfs:label nl Chorioretinale hyperpigmentatie CANDIDATE +en Chorioretinal hypopigmentation HP:0040030 rdfs:label nl Chorioretinale hypopigmentatie CANDIDATE +en Chorioretinal lacunae HP:0007858 rdfs:label nl Chorioretinale lacunae CANDIDATE +en Chorioretinal scar HP:0007777 rdfs:label nl Chorioretinaal litteken CANDIDATE +en Chorioretinitis HP:0012424 rdfs:label nl Chorioretinitis CANDIDATE +en Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow HP:0410253 IAO:0000115 nl Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow NOT_TRANSLATED +en Choroid hemorrhage HP:0011887 rdfs:label nl Choroïdale bloeding CANDIDATE +en Choroid plexus calcification HP:0006960 rdfs:label nl Choroïde plexus calcificatie CANDIDATE +en Choroid plexus carcinoma HP:0030392 rdfs:label nl Plexus choroideus carcinoom CANDIDATE +en Choroid plexus cyst HP:0002190 rdfs:label nl Choroid plexus cyste CANDIDATE +en Choroid plexus papilloma HP:0200022 rdfs:label nl Plexus choroideus papilloma CANDIDATE +en Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus HP:0200022 IAO:0000115 nl Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus NOT_TRANSLATED +en Choroidal hemangioma HP:0007872 rdfs:label nl Choroïdaal hemangioom CANDIDATE +en Choroidal melanoma HP:0012054 rdfs:label nl Choroïdaal melanoom CANDIDATE +en Choroidal neovascularization HP:0011506 rdfs:label nl Choroïdale neovascularisatie CANDIDATE +en Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye HP:0011506 IAO:0000115 nl Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye NOT_TRANSLATED +en Choroidal nevus HP:0025314 rdfs:label nl Choroïdale naevus CANDIDATE +en Choroidal vascular hyperpermeability HP:0025570 rdfs:label nl Choroïdale vasculaire hyperpermeabiliteit CANDIDATE +en Choroideremia HP:0001139 rdfs:label nl Choroideremie CANDIDATE +en Christmas tree cataract HP:0025571 rdfs:label nl Kerstboom cataract CANDIDATE +en Chromhidrosis HP:0034426 rdfs:label nl Chromhidrosis NOT_TRANSLATED +en Chromosomal breakage induced by crosslinking agents HP:0003221 rdfs:label nl Chromosomale breuken geïnduceerd door crosslinking agents CANDIDATE +en Chromosomal breakage induced by ionizing radiation HP:0010997 rdfs:label nl Chromosomen breuk geïndiceerd door ioniserende straling CANDIDATE +en Chromosome breakage HP:0040012 rdfs:label nl Chromosomen breuk CANDIDATE +en Chronic HP:0011010 rdfs:label nl Chronisch CANDIDATE +en Chronic (near) absent circulating IgG1 HP:0041069 rdfs:label nl Chronic (near) absent circulating IgG1 NOT_TRANSLATED +en Chronic (near) absent circulating IgG2 HP:0041065 rdfs:label nl Chronic (near) absent circulating IgG2 NOT_TRANSLATED +en Chronic (near) absent circulating IgG3 HP:0041074 rdfs:label nl Chronic (near) absent circulating IgG3 NOT_TRANSLATED +en Chronic (near) absent circulating IgG4 HP:0041059 rdfs:label nl Chronic (near) absent circulating IgG4 NOT_TRANSLATED +en Chronic CSF lymphocytosis HP:0009704 rdfs:label nl Chronische liquor lymfocytose CANDIDATE +en Chronic absent circulating IgD HP:0033018 rdfs:label nl Chronic absent circulating IgD NOT_TRANSLATED +en Chronic absent circulating IgE HP:0033023 rdfs:label nl Chronic absent circulating IgE NOT_TRANSLATED +en Chronic absent circulating total IgG HP:0033025 rdfs:label nl Chronic absent circulating total IgG NOT_TRANSLATED +en Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx HP:0009098 IAO:0000115 nl Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx NOT_TRANSLATED +en Chronic acidosis HP:0012468 rdfs:label nl Chronische acidose CANDIDATE +en Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed HP:0032204 IAO:0000115 nl Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed NOT_TRANSLATED +en Chronic active Epstein-Barr virus infection HP:0032204 rdfs:label nl Chronic active Epstein-Barr virus infection NOT_TRANSLATED +en Chronic active hepatitis HP:0200120 rdfs:label nl Chronische actieve hepatitis CANDIDATE +en Chronic axonal neuropathy HP:0007267 rdfs:label nl Chronische axonale neuropathie CANDIDATE +en Chronic bronchitis HP:0004469 rdfs:label nl Chronische bronchitis CANDIDATE +en Chronic calcifying pancreatitis HP:0005236 rdfs:label nl Chronische calcifiërende pancreatitis CANDIDATE +en Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter HP:0009704 IAO:0000115 nl Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter NOT_TRANSLATED +en Chronic colitis HP:0100281 rdfs:label nl Chronische colitis CANDIDATE +en Chronic compulsive drug seeking and continued use despite harmful consequences HP:0033511 IAO:0000115 nl Chronic compulsive drug seeking and continued use despite harmful consequences NOT_TRANSLATED +en Chronic constipation HP:0012450 rdfs:label nl Chronische constipatie CANDIDATE +en Chronic cough HP:0034315 rdfs:label nl Chronic cough NOT_TRANSLATED +en Chronic cutaneous wound HP:0032676 rdfs:label nl Chronic cutaneous wound NOT_TRANSLATED +en Chronic decreased circulating IgD HP:0033016 rdfs:label nl Chronic decreased circulating IgD NOT_TRANSLATED +en Chronic decreased circulating IgE HP:0033022 rdfs:label nl Chronic decreased circulating IgE NOT_TRANSLATED +en Chronic decreased circulating IgG1 HP:0041068 rdfs:label nl Chronic decreased circulating IgG1 NOT_TRANSLATED +en Chronic decreased circulating IgG3 HP:0041072 rdfs:label nl Chronic decreased circulating IgG3 NOT_TRANSLATED +en Chronic decreased circulating IgG4 HP:0041058 rdfs:label nl Chronic decreased circulating IgG4 NOT_TRANSLATED +en Chronic decreased circulating total IgG HP:0032134 rdfs:label nl Chronic decreased circulating total IgG NOT_TRANSLATED +en Chronic decreased cirulating IgG2 HP:0041063 rdfs:label nl Chronic decreased cirulating IgG2 NOT_TRANSLATED +en Chronic diarrhea HP:0002028 rdfs:label nl Chronische diarree CANDIDATE +en Chronic disseminated intravascular coagulation HP:0005520 rdfs:label nl Chronische diffuse intravasale stolling CANDIDATE +en Chronic fatigue HP:0012432 rdfs:label nl Chronische vermoeidheid CANDIDATE +en Chronic furunculosis HP:0011132 rdfs:label nl Chronische furunculose CANDIDATE +en Chronic gastritis HP:0005231 rdfs:label nl Chronische gastritis CANDIDATE +en Chronic hemolytic anemia HP:0004870 rdfs:label nl Chronische hemolytische anemie CANDIDATE +en Chronic hepatic encephalopathy HP:0007111 rdfs:label nl Chronische hepatische encefalopathie CANDIDATE +en Chronic hepatic failure HP:0100626 rdfs:label nl Chronisch leverfalen CANDIDATE +en Chronic hepatitis HP:0200123 rdfs:label nl Chronische hepatitis CANDIDATE +en Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue HP:0200124 IAO:0000115 nl Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue NOT_TRANSLATED +en Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis HP:0200120 IAO:0000115 nl Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis NOT_TRANSLATED +en Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver HP:0200084 IAO:0000115 nl Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver NOT_TRANSLATED +en Chronic hepatitis due to cryptosporidium infection HP:0200124 rdfs:label nl Chronische hepatitis als gevolg van cryptosporidium-infectie CANDIDATE +en Chronic idiopathic urticaria HP:0410133 rdfs:label nl Chronic idiopathic urticaria NOT_TRANSLATED +en Chronic infection HP:0031035 rdfs:label nl Chronische infecite CANDIDATE +en Chronic infection of the nails by Candida species HP:0008396 IAO:0000115 nl Chronic infection of the nails by Candida species NOT_TRANSLATED +en Chronic inflammation of the bronchi HP:0004469 IAO:0000115 nl Chronic inflammation of the bronchi NOT_TRANSLATED +en Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules HP:0004743 IAO:0000115 nl Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules NOT_TRANSLATED +en Chronic inflammation of the nasal mucosa HP:0002257 IAO:0000115 nl Chronic inflammation of the nasal mucosa NOT_TRANSLATED +en Chronic intestinal candidiasis HP:0005411 rdfs:label nl Chronische intestinale candidiasis CANDIDATE +en Chronic irritative conjunctivitis HP:0007717 rdfs:label nl Chronische irritatieve conjunctivitis CANDIDATE +en Chronic kidney disease HP:0012622 rdfs:label nl Chronische nierziekte CANDIDATE +en Chronic lactic acidosis HP:0004925 rdfs:label nl Chronische lactaat acidose CANDIDATE +en Chronic leukemia HP:0005558 rdfs:label nl Chronische leukemie CANDIDATE +en Chronic loss of joint motion in a finger due to structural changes in non-bony tissue HP:0012785 IAO:0000115 nl Chronic loss of joint motion in a finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue HP:0001220 IAO:0000115 nl Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers HP:0009697 IAO:0000115 nl Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers NOT_TRANSLATED +en Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected HP:0009537 IAO:0000115 nl Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED +en Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected HP:0009319 IAO:0000115 nl Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED +en Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected HP:0009274 IAO:0000115 nl Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED +en Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected HP:0009183 IAO:0000115 nl Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED +en Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints HP:0010213 IAO:0000115 nl Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints NOT_TRANSLATED +en Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected HP:0009600 IAO:0000115 nl Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected NOT_TRANSLATED +en Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint HP:0009624 IAO:0000115 nl Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint NOT_TRANSLATED +en Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue HP:0009538 IAO:0000115 nl Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue HP:0009469 IAO:0000115 nl Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue HP:0009275 IAO:0000115 nl Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue HP:0009184 IAO:0000115 nl Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis HP:0009626 IAO:0000115 nl Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis NOT_TRANSLATED +en Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue HP:0009539 IAO:0000115 nl Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue HP:0009470 IAO:0000115 nl Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue HP:0009277 IAO:0000115 nl Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue HP:0009186 IAO:0000115 nl Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis HP:0009625 IAO:0000115 nl Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis NOT_TRANSLATED +en Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue HP:0009540 IAO:0000115 nl Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue HP:0030675 IAO:0000115 nl Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue HP:0009471 IAO:0000115 nl Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue NOT_TRANSLATED +en Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement HP:0009276 IAO:0000115 nl Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED +en Chronic lung disease HP:0006528 rdfs:label nl Chronische longziekte CANDIDATE +en Chronic lymphatic leukemia HP:0005550 rdfs:label nl Chronische lymfatische leukemie CANDIDATE +en Chronic lymphocytic meningitis HP:0007041 rdfs:label nl Chronische lymfocytaire meningitis CANDIDATE +en Chronic metabolic acidosis HP:0001996 rdfs:label nl Chronische metabole acidose CANDIDATE +en Chronic monilial nail infection HP:0008396 rdfs:label nl Chronische moniliale nagel infectie CANDIDATE +en Chronic mucocutaneous candidiasis HP:0002728 rdfs:label nl Chronische mucocutane candidiasis CANDIDATE +en Chronic muscle inflammation accompanied by muscle weakness HP:0009071 IAO:0000115 nl Chronic muscle inflammation accompanied by muscle weakness NOT_TRANSLATED +en Chronic myelogenous leukemia HP:0005506 rdfs:label nl Chronische myeloïde leukemie CANDIDATE +en Chronic myelomonocytic leukemia HP:0012325 rdfs:label nl Chronische myelomonocytaire leukemie CANDIDATE +en Chronic neutropenia HP:0410252 rdfs:label nl Chronic neutropenia NOT_TRANSLATED +en Chronic noninfectious lymphadenopathy HP:0002730 rdfs:label nl Chronische noninfectious lymfadenopathie CANDIDATE +en Chronic oral candidiasis HP:0009098 rdfs:label nl Chronische orale candidiasis CANDIDATE +en Chronic otitis media HP:0000389 rdfs:label nl Chronische otitis media CANDIDATE +en Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear HP:0000389 IAO:0000115 nl Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear NOT_TRANSLATED +en Chronic pain HP:0012532 rdfs:label nl Chronische pijn CANDIDATE +en Chronic pain in the limbs with no clear focal etiology HP:0009763 IAO:0000115 nl Chronic pain in the limbs with no clear focal etiology NOT_TRANSLATED +en Chronic pancreatitis HP:0006280 rdfs:label nl Chronische pancreatitis CANDIDATE +en Chronic partially decreased circulating IgG1 HP:0041070 rdfs:label nl Chronic partially decreased circulating IgG1 NOT_TRANSLATED +en Chronic partially decreased circulating IgG2 HP:0041066 rdfs:label nl Chronic partially decreased circulating IgG2 NOT_TRANSLATED +en Chronic partially decreased circulating IgG3 HP:0041075 rdfs:label nl Chronic partially decreased circulating IgG3 NOT_TRANSLATED +en Chronic partially decreased circulating IgG4 HP:0041060 rdfs:label nl Chronic partially decreased circulating IgG4 NOT_TRANSLATED +en Chronic pulmonary obstruction HP:0006510 rdfs:label nl Chronische obstructieve longziekte CANDIDATE +en Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement HP:0003044 IAO:0000115 nl Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED +en Chronic respiratory acidosis HP:0012466 rdfs:label nl Chronische respiratoire acidose CANDIDATE +en Chronic rhinitis HP:0002257 rdfs:label nl Chronische rhinitis CANDIDATE +en Chronic rhinitis accompanied by pus formation HP:0040334 IAO:0000115 nl Chronic rhinitis accompanied by pus formation NOT_TRANSLATED +en Chronic rhinitis due to narrow nasal airway HP:0004499 rdfs:label nl Chronische rhinitis door nauwe nasale luchtweg CANDIDATE +en Chronic sensorineural polyneuropathy HP:0001301 rdfs:label nl Chronische perceptieve polyneuropathie CANDIDATE +en Chronic sinusitis HP:0011109 rdfs:label nl Chronische sinusitis CANDIDATE +en Chronic supraventricular tachycardia predominantly seen in childhood HP:0011700 IAO:0000115 nl Chronic supraventricular tachycardia predominantly seen in childhood NOT_TRANSLATED +en Chronic tinea infection HP:0032259 rdfs:label nl Chronic tinea infection NOT_TRANSLATED +en Chronic tubulointerstitial nephritis HP:0004743 rdfs:label nl Chronische tubulointerstitiële nefritis CANDIDATE +en Chronic villitis HP:0033552 rdfs:label nl Chronic villitis NOT_TRANSLATED +en Chronotropic incompetence HP:0033992 rdfs:label nl Chronotropic incompetence NOT_TRANSLATED +en Chvostek sign HP:0031990 rdfs:label nl Chvostek sign NOT_TRANSLATED +en Chylolymphatic mesenteric cyst HP:0030452 rdfs:label nl Chylolymfatische mesenteriale cyste CANDIDATE +en Chylopericardium HP:0011852 rdfs:label nl Chylopericard CANDIDATE +en Chylothorax HP:0010310 rdfs:label nl Chylothorax CANDIDATE +en Chylous ascites HP:0012281 rdfs:label nl Chyleuze ascites CANDIDATE +en Cicatricial ectropion HP:0025608 rdfs:label nl Cicatricieel ectropion CANDIDATE +en Cicatricial entropion HP:0031737 rdfs:label nl Cicatricieel entropion CANDIDATE +en Cicatricial lagophthalmos HP:0030004 rdfs:label nl Cicatriciële lagophthalmos CANDIDATE +en Cigarette-paper scars HP:0001073 rdfs:label nl Sigarettenpapier littekens CANDIDATE +en Ciliary body coloboma HP:0020006 rdfs:label nl Straalvormig lichaam coloboom CANDIDATE +en Ciliary body melanoma HP:0012055 rdfs:label nl Straalvormig lichaam melanoom CANDIDATE +en Ciliary dyskinesia HP:0012265 rdfs:label nl Ciliaire dyskinesie CANDIDATE +en Cilioretinal artery occlusion HP:0020163 rdfs:label nl Cilioretinal artery occlusion NOT_TRANSLATED +en Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function HP:0025381 IAO:0000115 nl Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function NOT_TRANSLATED +en Circulating immune complexes HP:0012224 rdfs:label nl Circulerende immuuncomplexen CANDIDATE +en Circulating nucleated red blood cells HP:0033281 rdfs:label nl Circulating nucleated red blood cells NOT_TRANSLATED +en Circumferential fibrosis in the interstitium surrounding Bowman's capsule HP:0032417 IAO:0000115 nl Circumferential fibrosis in the interstitium surrounding Bowman's capsule NOT_TRANSLATED +en Circumferential skin creases on extremities HP:0034400 rdfs:label nl Circumferential skin creases on extremities NOT_TRANSLATED +en Circumlimbal hyperemia HP:0025338 rdfs:label nl Circumlimbale hyperemie CANDIDATE +en Circumoral cyanosis HP:0032556 rdfs:label nl Circumoral cyanosis NOT_TRANSLATED +en Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis HP:0032026 IAO:0000115 nl Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis NOT_TRANSLATED +en Circumscribed depigmentation of the hair of the head or the eyelashes HP:0002290 IAO:0000115 nl Circumscribed depigmentation of the hair of the head or the eyelashes NOT_TRANSLATED +en Circumscribed interests HP:4000070 rdfs:label nl Circumscribed interests NOT_TRANSLATED +en Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder HP:0032990 IAO:0000115 nl Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder NOT_TRANSLATED +en Circumungual hyperkeratosis HP:0008399 rdfs:label nl Circumunguale hyperkeratose CANDIDATE +en Cirrhosis HP:0001394 rdfs:label nl Levercirrose CANDIDATE +en Citrullinuria HP:0032397 rdfs:label nl Citrullinuria NOT_TRANSLATED +en Civatte bodies HP:0025115 rdfs:label nl Colloïdlichaampjes CANDIDATE +en Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife HP:0031866 IAO:0000115 nl Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife NOT_TRANSLATED +en Clasp-knife sign HP:0031866 rdfs:label nl Clasp-knife sign NOT_TRANSLATED +en Class I obesity HP:0025499 rdfs:label nl Klasse I obesitas CANDIDATE +en Class II obesity HP:0025500 rdfs:label nl Klasse II obesitas CANDIDATE +en Class III obesity HP:0025501 rdfs:label nl Klasse III obesitas CANDIDATE +en Class to represent frequency of phenotypic abnormalities within a patient cohort HP:0040279 IAO:0000115 nl Class to represent frequency of phenotypic abnormalities within a patient cohort NOT_TRANSLATED +en Claustrophobia HP:0025253 rdfs:label nl Claustrofobie CANDIDATE +en Clavicular pseudarthrosis HP:0034187 rdfs:label nl Clavicular pseudarthrosis NOT_TRANSLATED +en Clavicular sclerosis HP:0100923 rdfs:label nl Claviculaire sclerose CANDIDATE +en Claw hand deformity HP:0034337 rdfs:label nl Claw hand deformity NOT_TRANSLATED +en Claw toe deformity HP:0034397 rdfs:label nl Claw toe deformity NOT_TRANSLATED +en Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints HP:0034397 IAO:0000115 nl Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints NOT_TRANSLATED +en Clay colored stools lacking bile pigment HP:0011985 IAO:0000115 nl Clay colored stools lacking bile pigment NOT_TRANSLATED +en Clear cell renal cell carcinoma HP:0006770 rdfs:label nl Clear cel niercelcarcinoom CANDIDATE +en Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis HP:0034193 IAO:0000115 nl Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis NOT_TRANSLATED +en Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells HP:0034194 IAO:0000115 nl Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells NOT_TRANSLATED +en Cleft ala nasi HP:0003191 rdfs:label nl Gespleten ala nasi CANDIDATE +en Cleft anterior mitral valve leaflet HP:0011569 rdfs:label nl Cleft anterior mitral valve leaflet NOT_TRANSLATED +en Cleft at the superior portion of the pinna HP:0008537 rdfs:label nl Cleft at the superior portion of the pinna NOT_TRANSLATED +en Cleft between the helix and the lobe HP:0030022 IAO:0000115 nl Cleft between the helix and the lobe NOT_TRANSLATED +en Cleft earlobe HP:0011265 rdfs:label nl Gespleten oorlel CANDIDATE +en Cleft hard palate HP:0410005 rdfs:label nl Gespleten hard palatum CANDIDATE +en Cleft helix HP:0009902 rdfs:label nl Gespleten helix CANDIDATE +en Cleft in skull base HP:0009752 rdfs:label nl Gespleten schedelbasis CANDIDATE +en Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect HP:0011569 IAO:0000115 nl Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect NOT_TRANSLATED +en Cleft lip HP:0410030 rdfs:label nl Gespleten lip CANDIDATE +en Cleft lip and cleft palate affecting both sides of the face HP:0002744 IAO:0000115 nl Cleft lip and cleft palate affecting both sides of the face NOT_TRANSLATED +en Cleft lip or palate affecting the midline region of the palate HP:0008501 IAO:0000115 nl Cleft lip or palate affecting the midline region of the palate NOT_TRANSLATED +en Cleft lower alveolar ridge HP:0009094 rdfs:label nl Cleft lower alveolar ridge NOT_TRANSLATED +en Cleft lower lip HP:0010281 rdfs:label nl Gespleten onderlip CANDIDATE +en Cleft mandible HP:0010752 rdfs:label nl Gespleten onderkaak CANDIDATE +en Cleft maxillary alveolus HP:0410003 rdfs:label nl Gespleten primair palatum CANDIDATE +en Cleft of alveolar ridge of maxilla HP:0010289 rdfs:label nl Cleft of alveolar ridge of maxilla NOT_TRANSLATED +en Cleft of chin HP:0011323 rdfs:label nl Gespleten kin CANDIDATE +en Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency HP:0000185 IAO:0000115 nl Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency NOT_TRANSLATED +en Cleft palate HP:0000175 rdfs:label nl Gespleten gehemelte CANDIDATE +en Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate) HP:0000175 IAO:0000115 nl Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate) NOT_TRANSLATED +en Cleft palate of the midline of the palate HP:0009099 IAO:0000115 nl Cleft palate of the midline of the palate NOT_TRANSLATED +en Cleft soft palate HP:0000185 rdfs:label nl Gespleten zachte verhemelte CANDIDATE +en Cleft upper lip HP:0000204 rdfs:label nl Gespleten bovenlip CANDIDATE +en Cleft vertebral arch HP:0004616 rdfs:label nl Gespleten wervelboog CANDIDATE +en Clefting affecting the humerus HP:0003864 IAO:0000115 nl Clefting affecting the humerus NOT_TRANSLATED +en Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region HP:0100335 IAO:0000115 nl Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region NOT_TRANSLATED +en Clicking tinnitus HP:0034424 rdfs:label nl Clicking tinnitus NOT_TRANSLATED +en Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) HP:0040224 IAO:0000115 nl Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis) NOT_TRANSLATED +en Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time HP:0020095 IAO:0000115 nl Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time NOT_TRANSLATED +en Clinical course HP:0031797 rdfs:label nl Clinical course NOT_TRANSLATED +en Clinical modifier HP:0012823 rdfs:label nl Klinische modifier CANDIDATE +en Clinical relevance HP:0045088 rdfs:label nl Clinical relevance NOT_TRANSLATED +en Clinodactyly HP:0030084 rdfs:label nl Clinodactylie CANDIDATE +en Clinodactyly of hallux HP:0040018 rdfs:label nl Clinodactylie van de hallux CANDIDATE +en Clinodactyly of the 2nd finger HP:0040022 rdfs:label nl Clinodactylie van de 2e vinger CANDIDATE +en Clinodactyly of the 2nd toe HP:0005824 rdfs:label nl Clinodactylie van de 2e teen CANDIDATE +en Clinodactyly of the 3rd finger HP:0040024 rdfs:label nl Clinodactylie van de 3e vinger CANDIDATE +en Clinodactyly of the 3rd toe HP:0008115 rdfs:label nl Clinodactylie van de 3e teen CANDIDATE +en Clinodactyly of the 4th finger HP:0040025 rdfs:label nl Clinodactylie van de 4e vinger CANDIDATE +en Clinodactyly of the 4th toe HP:0011918 rdfs:label nl Clinodactylie van de 4e teen CANDIDATE +en Clinodactyly of the 5th finger HP:0004209 rdfs:label nl Clinodactylie van de 5e vinger CANDIDATE +en Clinodactyly of the 5th toe HP:0001864 rdfs:label nl Clinodactylie van de 5e teen CANDIDATE +en Clinodactyly of the thumb HP:0040023 rdfs:label nl Clinodactylie van de duim CANDIDATE +en Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger) HP:0004209 IAO:0000115 nl Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger) NOT_TRANSLATED +en Clitoral hypertrophy HP:0008665 rdfs:label nl Clitoris hypertrofie CANDIDATE +en Clitoral hypoplasia HP:0000060 rdfs:label nl Clitorale hypoplasie CANDIDATE +en Cloacal abnormality HP:0012620 rdfs:label nl Cloacale afwijking CANDIDATE +en Cloacal exstrophy HP:0010475 rdfs:label nl Cloaca extrofie CANDIDATE +en Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus HP:0010475 IAO:0000115 nl Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus NOT_TRANSLATED +en Clonal T cell receptor rearrangement HP:0032577 rdfs:label nl Clonal T cell receptor rearrangement NOT_TRANSLATED +en Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia HP:0002863 IAO:0000115 nl Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia NOT_TRANSLATED +en Clonic seizure HP:0020221 rdfs:label nl Clonic seizure NOT_TRANSLATED +en Clonus HP:0002169 rdfs:label nl Clonus CANDIDATE +en Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint HP:0011728 IAO:0000115 nl Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint NOT_TRANSLATED +en Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward HP:0011448 IAO:0000115 nl Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward NOT_TRANSLATED +en Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes HP:0011449 IAO:0000115 nl Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes NOT_TRANSLATED +en Closed comedo HP:0025250 rdfs:label nl Gesloten comedo CANDIDATE +en Closed fracture HP:4000051 rdfs:label nl Closed fracture NOT_TRANSLATED +en Closed neural tube defect HP:0034238 rdfs:label nl Closed neural tube defect NOT_TRANSLATED +en Clostridium difficile colitis HP:0032168 rdfs:label nl Clostridium difficile colitis NOT_TRANSLATED +en Clostridium difficile enteritis HP:0032167 rdfs:label nl Clostridium difficile enteritis NOT_TRANSLATED +en Cloudy urine HP:0031967 rdfs:label nl Cloudy urine NOT_TRANSLATED +en Cloverleaf skull HP:0002676 rdfs:label nl Klaverblad schedel CANDIDATE +en Club-shaped distal femur HP:0006384 rdfs:label nl Club-shaped distal femur NOT_TRANSLATED +en Club-shaped proximal femur HP:0006406 rdfs:label nl Club-shaped proximal femur NOT_TRANSLATED +en Clubbing HP:0001217 rdfs:label nl Hippocratisme CANDIDATE +en Clubbing of fingers HP:0100759 rdfs:label nl Trommelstokvorming van vingers CANDIDATE +en Clubbing of toes HP:0100760 rdfs:label nl Trommelstokvorming van tenen CANDIDATE +en Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium HP:0030505 IAO:0000115 nl Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium NOT_TRANSLATED +en Clumping of elastic fibers in the dermis HP:0025165 rdfs:label nl Klonteren van elastische vezels in de dermis CANDIDATE +en Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation HP:0030403 IAO:0000115 nl Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation NOT_TRANSLATED +en Clumsiness HP:0002312 rdfs:label nl Onhandigheid CANDIDATE +en Cluster headache HP:0012199 rdfs:label nl Clusterhoofdpijn CANDIDATE +en Clusters of axonal regeneration HP:0007233 rdfs:label nl Clusters van axonale regeneratie CANDIDATE +en Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography HP:0025393 IAO:0000115 nl Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography NOT_TRANSLATED +en Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, HP:0025395 IAO:0000115 nl Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, NOT_TRANSLATED +en Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%) HP:0008682 IAO:0000115 nl Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%) NOT_TRANSLATED +en Coalescence of tarsal bones HP:0005802 rdfs:label nl Tarsale coalitie CANDIDATE +en Coarctation in the transverse aortic arch HP:0031053 rdfs:label nl Coarctation in the transverse aortic arch NOT_TRANSLATED +en Coarctation of abdominal aorta HP:0004974 rdfs:label nl Coarctatie van de abdominale aorta CANDIDATE +en Coarctation of aorta HP:0001680 rdfs:label nl Coarctatie van de aorta CANDIDATE +en Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta HP:0031054 IAO:0000115 nl Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta NOT_TRANSLATED +en Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta HP:0004974 IAO:0000115 nl Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta NOT_TRANSLATED +en Coarctation of the aorta is a narrowing or constriction of a segment of the aorta HP:0001680 IAO:0000115 nl Coarctation of the aorta is a narrowing or constriction of a segment of the aorta NOT_TRANSLATED +en Coarctation of the descending aortic arch HP:0012305 rdfs:label nl Coarctatie van de descenderende aortaboog CANDIDATE +en Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms HP:0100670 IAO:0000115 nl Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms NOT_TRANSLATED +en Coarse facial features HP:0000280 rdfs:label nl Grove gelaatstrekken CANDIDATE +en Coarse facial features reminiscent of those of a boxer HP:0000339 IAO:0000115 nl Coarse facial features reminiscent of those of a boxer NOT_TRANSLATED +en Coarse hair HP:0002208 rdfs:label nl Grof haar CANDIDATE +en Coarse humeral trabeculae HP:0003866 rdfs:label nl Grove trabeculae van humerus CANDIDATE +en Coarse metaphyseal trabecularization HP:0100670 rdfs:label nl Ruwe trabeculatie CANDIDATE +en Coarsened hepatic echotexture HP:0031144 rdfs:label nl Coarsened hepatic echotexture NOT_TRANSLATED +en Coat hanger sign of ribs HP:0006665 rdfs:label nl Coat hanger sign of ribs NOT_TRANSLATED +en Coated aorta HP:0025494 rdfs:label nl Gecoate aorta CANDIDATE +en Cobblestone-like hyperkeratosis HP:0031288 rdfs:label nl Cobblestone-like hyperkeratosis NOT_TRANSLATED +en Cocaine addiction HP:0033513 rdfs:label nl Cocaine addiction NOT_TRANSLATED +en Coccidioidal meningitis HP:0032161 rdfs:label nl Coccidioidal meningitis NOT_TRANSLATED +en Coccidioidomycosis HP:0032249 rdfs:label nl Coccidioidomycosis NOT_TRANSLATED +en Cochlear aplasia HP:0011375 rdfs:label nl Cochleaire aplasie CANDIDATE +en Cochlear degeneration HP:0005102 rdfs:label nl Cochleaire degeneratie CANDIDATE +en Cochlear malformation HP:0008554 rdfs:label nl Cochleaire malformatie CANDIDATE +en Cock-walk gait HP:0031848 rdfs:label nl Cock-walk gait NOT_TRANSLATED +en Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum HP:0100563 IAO:0000115 nl Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum NOT_TRANSLATED +en Coffee ground vomitus HP:0032144 rdfs:label nl Coffee ground vomitus NOT_TRANSLATED +en Cogan lid twitch HP:0031786 rdfs:label nl Cogan lid twitch NOT_TRANSLATED +en Cognitive epileptic aura HP:0033347 rdfs:label nl Cognitive epileptic aura NOT_TRANSLATED +en Cognitive fatigue HP:0033236 rdfs:label nl Cognitive fatigue NOT_TRANSLATED +en Cognitive impairment HP:0100543 rdfs:label nl Cognitieve verslechtering CANDIDATE +en Cognitive regression HP:0034332 rdfs:label nl Cognitive regression NOT_TRANSLATED +en Cognitive, psychiatric or memory anomaly HP:0011446 IAO:0000115 nl Cognitive, psychiatric or memory anomaly NOT_TRANSLATED +en Cogwheel rigidity HP:0002396 rdfs:label nl Tandradrigiditeit CANDIDATE +en Coiled sperm flagella HP:0032560 rdfs:label nl Coiled sperm flagella NOT_TRANSLATED +en Cold paresis HP:0031372 rdfs:label nl Koud parese CANDIDATE +en Cold urticaria HP:0410135 rdfs:label nl Cold urticaria NOT_TRANSLATED +en Cold-induced hand cramps HP:0003435 rdfs:label nl Koud-geïnduceerde hand krampen CANDIDATE +en Cold-induced hemolysis HP:0031484 rdfs:label nl Koud-geïnduceerde hemolyse CANDIDATE +en Cold-induced muscle cramps HP:0003449 rdfs:label nl Koud-geïnduceerde spierkrampen CANDIDATE +en Cold-induced sweating HP:0025278 rdfs:label nl Koud-geïnduceerd zweten CANDIDATE +en Cold-sensitive myotonia HP:0012904 rdfs:label nl Koud-gevoelige myotonie CANDIDATE +en Coldness HP:0033850 rdfs:label nl Coldness NOT_TRANSLATED +en Colitis HP:0002583 rdfs:label nl Colitis CANDIDATE +en Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases HP:0002583 IAO:0000115 nl Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases NOT_TRANSLATED +en Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs) HP:0033269 IAO:0000115 nl Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs) NOT_TRANSLATED +en Collapse of part of a lung associated with absence of inflation (air) of that part HP:0100750 IAO:0000115 nl Collapse of part of a lung associated with absence of inflation (air) of that part NOT_TRANSLATED +en Collection of neutrophils in the dermis HP:0031236 IAO:0000115 nl Collection of neutrophils in the dermis NOT_TRANSLATED +en Collection of neutrophils in the epidermis HP:0031235 IAO:0000115 nl Collection of neutrophils in the epidermis NOT_TRANSLATED +en Collectionism HP:0030212 rdfs:label nl Collectionism NOT_TRANSLATED +en Collier's sign HP:0500045 rdfs:label nl Collier's sign NOT_TRANSLATED +en Coloboma HP:0000589 rdfs:label nl Coloboom CANDIDATE +en Colon cancer HP:0003003 rdfs:label nl Darmkanker CANDIDATE +en Colon perforation HP:0031369 rdfs:label nl Colon perforatie CANDIDATE +en Colonic arteriovenous malformation HP:0031345 rdfs:label nl Colonische arterioveneuze malformatie CANDIDATE +en Colonic atresia HP:0010448 rdfs:label nl Colon atresie CANDIDATE +en Colonic diverticula HP:0002253 rdfs:label nl Divertikel van darm CANDIDATE +en Colonic eosinophilia HP:0031813 rdfs:label nl Colonic eosinophilia NOT_TRANSLATED +en Colonic inertia HP:0012423 rdfs:label nl Colonische traagheid CANDIDATE +en Colonic stenosis HP:0012851 rdfs:label nl Colonstenose CANDIDATE +en Colonic varices HP:0012550 rdfs:label nl Colonische varices CANDIDATE +en Color vision defect HP:0000551 rdfs:label nl Afwijking van kleurvisie CANDIDATE +en Color vision test abnormality HP:0030584 rdfs:label nl Kleurenzien test afwijking CANDIDATE +en Colorectal polyposis HP:0200063 rdfs:label nl Colorectale polyposis CANDIDATE +en Colovesical fistula HP:0034255 rdfs:label nl Colovesical fistula NOT_TRANSLATED +en Colpocephaly HP:0030048 rdfs:label nl Colpocefalie CANDIDATE +en Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles HP:0030048 IAO:0000115 nl Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles NOT_TRANSLATED +en Columella extending inferior to the level of the nasal base, when viewed from the side HP:0009765 IAO:0000115 nl Columella extending inferior to the level of the nasal base, when viewed from the side NOT_TRANSLATED +en Coma HP:0001259 rdfs:label nl Coma CANDIDATE +en Combined cystic and ground-glass pattern on pulmonary HRCT HP:0025395 rdfs:label nl Gecombineerd cysteus en ground-glass patroon op pulmonale HRCT CANDIDATE +en Combined hamartoma of the retinal pigment epithelium and retina HP:0030510 rdfs:label nl Gecombineerd hamartoom van retina pigment epitheel en retina CANDIDATE +en Combined immunodeficiency HP:0005387 rdfs:label nl Gecombineerde immunodeficiëntie CANDIDATE +en Combined pre- and post-capillary pulmonary hypertension HP:0033636 rdfs:label nl Combined pre- and post-capillary pulmonary hypertension NOT_TRANSLATED +en Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) HP:0033636 IAO:0000115 nl Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units) NOT_TRANSLATED +en Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe) HP:0005817 IAO:0000115 nl Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe) NOT_TRANSLATED +en Combined syndactyly and polydactyly of the great toe HP:0005873 IAO:0000115 nl Combined syndactyly and polydactyly of the great toe NOT_TRANSLATED +en Comedo HP:0025249 rdfs:label nl Comedo CANDIDATE +en Comedonal acne HP:0040137 rdfs:label nl Acné comedonica CANDIDATE +en Comma-shaped carpal bones HP:0004235 rdfs:label nl Comma-vormige carpale botten CANDIDATE +en Comma-shaped scaphoid HP:0004245 rdfs:label nl Comma-vormig scafoïd CANDIDATE +en Comminuted fracture HP:4000048 rdfs:label nl Comminuted fracture NOT_TRANSLATED +en Commissural lip pit HP:0002710 rdfs:label nl Commissurale lip pit CANDIDATE +en Common atrium HP:0011565 rdfs:label nl Gemeenschappelijk atrium CANDIDATE +en Common atrium without defining morphologic features HP:0011539 IAO:0000115 nl Common atrium without defining morphologic features NOT_TRANSLATED +en Common carotid artery aneurysm HP:0034325 rdfs:label nl Common carotid artery aneurysm NOT_TRANSLATED +en Common carotid artery dissection HP:0012162 rdfs:label nl Arteria carotis communis dissectie CANDIDATE +en Common origin of the right brachiocephalic artery and left common carotid artery HP:0011589 rdfs:label nl Gemeenschappelijke oorsprong van de rechter truncus brachiocephalicus en linker arteria carotis communis CANDIDATE +en Communicating hydrocephalus HP:0001334 rdfs:label nl Communicerende hydrocefalie CANDIDATE +en Compensated hemolytic anemia HP:0004863 rdfs:label nl Gecompenseerde hemolytische anemie CANDIDATE +en Compensated hypothyroidism HP:0008223 rdfs:label nl Gecompenseerde hypothyreoïdie CANDIDATE +en Compensatory chin depression HP:0031706 rdfs:label nl Compenserende kin depressie CANDIDATE +en Compensatory chin elevation HP:0001477 rdfs:label nl Compenserende kinhoogte CANDIDATE +en Compensatory face turn to the left HP:0031708 rdfs:label nl Compenserende draai van het gezicht naar links CANDIDATE +en Compensatory face turn to the right HP:0031707 rdfs:label nl Compenserende draai van het gezicht naar rechts CANDIDATE +en Compensatory head posture HP:0031705 rdfs:label nl Compenserende hoofd houding CANDIDATE +en Compensatory head tilt to the left shoulder HP:0031710 rdfs:label nl Compenserende kanteling van het hoofd naar de linker schouder CANDIDATE +en Compensatory head tilt to the right shoulder HP:0031709 rdfs:label nl Compenserende kanteling van het hoofd naar de rechter schouder CANDIDATE +en Compensatory scoliosis HP:0100884 rdfs:label nl Compenserende scoliose CANDIDATE +en Complement deficiency HP:0004431 rdfs:label nl Complement deficiëntie CANDIDATE +en Complete absence of all nasal structures HP:0009927 IAO:0000115 nl Complete absence of all nasal structures NOT_TRANSLATED +en Complete absence of all von Willebrand factor multimers HP:0030134 IAO:0000115 nl Complete absence of all von Willebrand factor multimers NOT_TRANSLATED +en Complete absence of any auricular structures HP:0009892 IAO:0000115 nl Complete absence of any auricular structures NOT_TRANSLATED +en Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy HP:0012259 IAO:0000115 nl Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy NOT_TRANSLATED +en Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections HP:0011565 IAO:0000115 nl Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections NOT_TRANSLATED +en Complete absence of the vestibule of the inner ear HP:0011377 IAO:0000115 nl Complete absence of the vestibule of the inner ear NOT_TRANSLATED +en Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli HP:0001259 IAO:0000115 nl Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli NOT_TRANSLATED +en Complete atrioventricular canal defect HP:0001674 rdfs:label nl Volledig atrioventriculair kanaaldefect CANDIDATE +en Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1) HP:0008489 IAO:0000115 nl Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1) NOT_TRANSLATED +en Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra HP:0003302 IAO:0000115 nl Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra NOT_TRANSLATED +en Complete breech presentation HP:0010860 rdfs:label nl Volledige stuitligging presentatie CANDIDATE +en Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray HP:0007803 IAO:0000115 nl Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray NOT_TRANSLATED +en Complete congenital stationary night blindness HP:0030640 rdfs:label nl Complete congenital stationary night blindness NOT_TRANSLATED +en Complete diaphragmatic absence of pericardium HP:0011630 rdfs:label nl Totale diafragmatische afwezigheid van het pericardium CANDIDATE +en Complete dislocation of the lens of the eye HP:0012019 IAO:0000115 nl Complete dislocation of the lens of the eye NOT_TRANSLATED +en Complete duplication of a phalanx of second toe HP:0010429 IAO:0000115 nl Complete duplication of a phalanx of second toe NOT_TRANSLATED +en Complete duplication of distal phalanx of the thumb HP:0009606 rdfs:label nl Complete duplicatie van distale falanx van de duim CANDIDATE +en Complete duplication of distal phalanx of third toe HP:0100407 IAO:0000115 nl Complete duplication of distal phalanx of third toe NOT_TRANSLATED +en Complete duplication of hallux phalanx HP:0010100 rdfs:label nl Complete duplicatie van falanx van hallux CANDIDATE +en Complete duplication of middle phalanx of fourth toe HP:0100411 IAO:0000115 nl Complete duplication of middle phalanx of fourth toe NOT_TRANSLATED +en Complete duplication of middle phalanx of second toe HP:0010426 IAO:0000115 nl Complete duplication of middle phalanx of second toe NOT_TRANSLATED +en Complete duplication of middle phalanx of third toe HP:0100410 IAO:0000115 nl Complete duplication of middle phalanx of third toe NOT_TRANSLATED +en Complete duplication of one or more phalanx of big toe HP:0010100 IAO:0000115 nl Complete duplication of one or more phalanx of big toe NOT_TRANSLATED +en Complete duplication of phalanx of hand HP:0009998 rdfs:label nl Complete duplicatie van falanx van hand CANDIDATE +en Complete duplication of proximal phalanx of second toe HP:0010422 IAO:0000115 nl Complete duplication of proximal phalanx of second toe NOT_TRANSLATED +en Complete duplication of proximal phalanx of the thumb HP:0009608 rdfs:label nl Complete duplicatie van proximale falanx van de duim CANDIDATE +en Complete duplication of proximal phalanx of third toe HP:0100413 IAO:0000115 nl Complete duplication of proximal phalanx of third toe NOT_TRANSLATED +en Complete duplication of the 1st metatarsal HP:0010098 rdfs:label nl Complete duplicatie van de 1e metatarsaal CANDIDATE +en Complete duplication of the distal phalanges of the hand HP:0010001 rdfs:label nl Complete duplicatie van de distale falangen van de hand CANDIDATE +en Complete duplication of the distal phalanx of fourth toe HP:0100408 IAO:0000115 nl Complete duplication of the distal phalanx of fourth toe NOT_TRANSLATED +en Complete duplication of the distal phalanx of index finger HP:0009950 IAO:0000115 nl Complete duplication of the distal phalanx of index finger NOT_TRANSLATED +en Complete duplication of the distal phalanx of little finger HP:0009991 IAO:0000115 nl Complete duplication of the distal phalanx of little finger NOT_TRANSLATED +en Complete duplication of the distal phalanx of little toe HP:0100409 IAO:0000115 nl Complete duplication of the distal phalanx of little toe NOT_TRANSLATED +en Complete duplication of the distal phalanx of middle finger HP:0009965 IAO:0000115 nl Complete duplication of the distal phalanx of middle finger NOT_TRANSLATED +en Complete duplication of the distal phalanx of ring finger HP:0009978 IAO:0000115 nl Complete duplication of the distal phalanx of ring finger NOT_TRANSLATED +en Complete duplication of the distal phalanx of second toe HP:0010424 IAO:0000115 nl Complete duplication of the distal phalanx of second toe NOT_TRANSLATED +en Complete duplication of the distal phalanx of the 2nd finger HP:0009950 rdfs:label nl Complete duplicatie van de distale falanx van de 2e vinger CANDIDATE +en Complete duplication of the distal phalanx of the 2nd toe HP:0010424 rdfs:label nl Complete duplicatie van de distale falanx van de 2e teen CANDIDATE +en Complete duplication of the distal phalanx of the 3rd finger HP:0009965 rdfs:label nl Complete duplicatie van de distale falanx van de 3e vinger CANDIDATE +en Complete duplication of the distal phalanx of the 3rd toe HP:0100407 rdfs:label nl Complete duplicatie van de distale falanx van de 3e teen CANDIDATE +en Complete duplication of the distal phalanx of the 4th finger HP:0009978 rdfs:label nl Complete duplicatie van de distale falanx van de 4e vinger CANDIDATE +en Complete duplication of the distal phalanx of the 4th toe HP:0100408 rdfs:label nl Complete duplicatie van de distale falanx van de 4e teen CANDIDATE +en Complete duplication of the distal phalanx of the 5th finger HP:0009991 rdfs:label nl Complete duplicatie van de distale falanx van de 5e vinger CANDIDATE +en Complete duplication of the distal phalanx of the 5th toe HP:0100409 rdfs:label nl Complete duplicatie van de distale falanx van de 5e teen CANDIDATE +en Complete duplication of the distal phalanx of the hallux HP:0010096 rdfs:label nl Complete duplicatie van de distale falanx van de hallux CANDIDATE +en Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side HP:0009606 IAO:0000115 nl Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side NOT_TRANSLATED +en Complete duplication of the fifth middle phalanx of hand HP:0009992 IAO:0000115 nl Complete duplication of the fifth middle phalanx of hand NOT_TRANSLATED +en Complete duplication of the fifth proximal phalanx of hand HP:0009993 IAO:0000115 nl Complete duplication of the fifth proximal phalanx of hand NOT_TRANSLATED +en Complete duplication of the first metacarpal HP:0009615 rdfs:label nl Complete duplicatie van de 1e metacarpaal CANDIDATE +en Complete duplication of the first metacarpal bone HP:0009615 IAO:0000115 nl Complete duplication of the first metacarpal bone NOT_TRANSLATED +en Complete duplication of the fourth proximal phalanx of hand HP:0009980 IAO:0000115 nl Complete duplication of the fourth proximal phalanx of hand NOT_TRANSLATED +en Complete duplication of the middle phalanges of the hand HP:0010002 rdfs:label nl Complete duplicatie van de middelste falangen van de hand CANDIDATE +en Complete duplication of the middle phalanx of index finger HP:0009952 IAO:0000115 nl Complete duplication of the middle phalanx of index finger NOT_TRANSLATED +en Complete duplication of the middle phalanx of middle finger HP:0009966 IAO:0000115 nl Complete duplication of the middle phalanx of middle finger NOT_TRANSLATED +en Complete duplication of the middle phalanx of ring finger HP:0009979 IAO:0000115 nl Complete duplication of the middle phalanx of ring finger NOT_TRANSLATED +en Complete duplication of the middle phalanx of the 2nd finger HP:0009952 rdfs:label nl Complete duplicatie van de middelste falanx van de 2e vinger CANDIDATE +en Complete duplication of the middle phalanx of the 2nd toe HP:0010426 rdfs:label nl Complete duplicatie van de middelste falanx van de 2e teen CANDIDATE +en Complete duplication of the middle phalanx of the 3rd finger HP:0009966 rdfs:label nl Complete duplicatie van de middelste falanx van de 3e vinger CANDIDATE +en Complete duplication of the middle phalanx of the 3rd toe HP:0100410 rdfs:label nl Complete duplicatie van de middelste falanx van de 3e teen CANDIDATE +en Complete duplication of the middle phalanx of the 4th finger HP:0009979 rdfs:label nl Complete duplicatie van de middelste falanx van de 4e vinger CANDIDATE +en Complete duplication of the middle phalanx of the 4th toe HP:0100411 rdfs:label nl Complete duplicatie van de middelste falanx van de 4e teen CANDIDATE +en Complete duplication of the middle phalanx of the 5th finger HP:0009992 rdfs:label nl Complete duplicatie van de middelste falanx van de 5e vinger CANDIDATE +en Complete duplication of the middle phalanx of the 5th toe HP:0100412 IAO:0000115 nl Complete duplication of the middle phalanx of the 5th toe NOT_TRANSLATED +en Complete duplication of the middle phalanx of the 5th toe HP:0100412 rdfs:label nl Complete duplicatie van de middelste falanx van de 5e teen CANDIDATE +en Complete duplication of the phalanges of the 2nd finger HP:0009957 rdfs:label nl Complete duplicatie van de falangen van de 2e vinger CANDIDATE +en Complete duplication of the phalanges of the 2nd toe HP:0010429 rdfs:label nl Complete duplicatie van de falangen van de 2e vinger CANDIDATE +en Complete duplication of the phalanges of the 3rd finger HP:0009960 rdfs:label nl Complete duplicatie van de falangen van de 3e vinger CANDIDATE +en Complete duplication of the phalanges of the 4th finger HP:0009973 rdfs:label nl Complete duplicatie van de falangen van de 4e vinger CANDIDATE +en Complete duplication of the phalanges of the 5th finger HP:0009986 rdfs:label nl Complete duplicatie van de falangen van de 5e vinger CANDIDATE +en Complete duplication of the proximal phalanges of the hand HP:0010000 rdfs:label nl Complete duplicatie van de proximale falangen van de hand CANDIDATE +en Complete duplication of the proximal phalanx of big toe HP:0010094 IAO:0000115 nl Complete duplication of the proximal phalanx of big toe NOT_TRANSLATED +en Complete duplication of the proximal phalanx of fifth toe HP:0100415 IAO:0000115 nl Complete duplication of the proximal phalanx of fifth toe NOT_TRANSLATED +en Complete duplication of the proximal phalanx of the 2nd finger HP:0009954 rdfs:label nl Complete duplicatie van de proximale falanx van de 2e vinger CANDIDATE +en Complete duplication of the proximal phalanx of the 2nd toe HP:0010422 rdfs:label nl Complete duplicatie van de proximale falanx van de 2e teen CANDIDATE +en Complete duplication of the proximal phalanx of the 3rd finger HP:0009967 rdfs:label nl Complete duplicatie van de proximale falanx van de 3e vinger CANDIDATE +en Complete duplication of the proximal phalanx of the 3rd toe HP:0100413 rdfs:label nl Complete duplicatie van de proximale falanx van de 3e teen CANDIDATE +en Complete duplication of the proximal phalanx of the 4th finger HP:0009980 rdfs:label nl Complete duplicatie van de proximale falanx van de 4e vinger CANDIDATE +en Complete duplication of the proximal phalanx of the 4th toe HP:0100414 rdfs:label nl Complete duplicatie van de proximale falanx van de 4e teen CANDIDATE +en Complete duplication of the proximal phalanx of the 5th finger HP:0009993 rdfs:label nl Complete duplicatie van de proximale falanx van de 5e vinger CANDIDATE +en Complete duplication of the proximal phalanx of the 5th toe HP:0100415 rdfs:label nl Complete duplicatie van de proximale falanx van de 5e teen CANDIDATE +en Complete duplication of the proximal phalanx of the hallux HP:0010094 rdfs:label nl Complete duplicatie van de proximale falanx van de hallux CANDIDATE +en Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009608 IAO:0000115 nl Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Complete duplication of the second proximal phalanx of hand HP:0009954 IAO:0000115 nl Complete duplication of the second proximal phalanx of hand NOT_TRANSLATED +en Complete duplication of the third proximal phalanx of hand HP:0009967 IAO:0000115 nl Complete duplication of the third proximal phalanx of hand NOT_TRANSLATED +en Complete duplication of thumb phalanx HP:0009943 rdfs:label nl Complete duplicatie van falanx van duim CANDIDATE +en Complete heart block with broad QRS complexes HP:0005170 rdfs:label nl Volledig AV-blok met brede QRS-complexen CANDIDATE +en Complete heart block with narrow QRS complexes HP:0005178 rdfs:label nl Volledig AV-blok met smalle QRS-complexen CANDIDATE +en Complete inability of T cells to perform their functions in cell-mediated immunity HP:0005354 IAO:0000115 nl Complete inability of T cells to perform their functions in cell-mediated immunity NOT_TRANSLATED +en Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope HP:0030145 IAO:0000115 nl Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope NOT_TRANSLATED +en Complete lack of development of speech and language abilities HP:0001344 IAO:0000115 nl Complete lack of development of speech and language abilities NOT_TRANSLATED +en Complete lack of functioning of the vestibular apparatus HP:0008555 IAO:0000115 nl Complete lack of functioning of the vestibular apparatus NOT_TRANSLATED +en Complete lack of mature B cells, that is, of B cells that have left the bone marrow HP:0030252 IAO:0000115 nl Complete lack of mature B cells, that is, of B cells that have left the bone marrow NOT_TRANSLATED +en Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin HP:0030251 IAO:0000115 nl Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin NOT_TRANSLATED +en Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green HP:0011521 IAO:0000115 nl Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green NOT_TRANSLATED +en Complete left sided absence of pericardium HP:0011633 rdfs:label nl Totale linkszijdige afwezigheid van het pericardium CANDIDATE +en Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve) HP:0007209 IAO:0000115 nl Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve) NOT_TRANSLATED +en Complete loss of hearing related to a sensorineural defect HP:0011476 IAO:0000115 nl Complete loss of hearing related to a sensorineural defect NOT_TRANSLATED +en Complete obstruction of a carotid artery HP:0012474 IAO:0000115 nl Complete obstruction of a carotid artery NOT_TRANSLATED +en Complete or almost complete absence of enamel HP:0033785 IAO:0000115 nl Complete or almost complete absence of enamel NOT_TRANSLATED +en Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine HP:0410303 rdfs:label nl Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine NOT_TRANSLATED +en Complete or near-complete absence of specific antibody response to hepatitis B vaccine HP:0410296 rdfs:label nl Complete or near-complete absence of specific antibody response to hepatitis B vaccine NOT_TRANSLATED +en Complete or near-complete absence of specific antibody response to meningococcus vaccine HP:0410304 rdfs:label nl Complete or near-complete absence of specific antibody response to meningococcus vaccine NOT_TRANSLATED +en Complete or near-complete absence of specific antibody response to tetanus vaccine HP:0410295 rdfs:label nl Complete or near-complete absence of specific antibody response to tetanus vaccine NOT_TRANSLATED +en Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine HP:0410300 rdfs:label nl Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine NOT_TRANSLATED +en Complete or nearly complete soft tissue fusion of the alveolar ridges HP:0009754 IAO:0000115 nl Complete or nearly complete soft tissue fusion of the alveolar ridges NOT_TRANSLATED +en Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side HP:0009612 IAO:0000115 nl Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side NOT_TRANSLATED +en Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009942 IAO:0000115 nl Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009613 IAO:0000115 nl Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Complete or partial merging of adjacent ribs HP:0000902 IAO:0000115 nl Complete or partial merging of adjacent ribs NOT_TRANSLATED +en Complete or partial merging of the posterior part of adjacent ribs HP:0000913 IAO:0000115 nl Complete or partial merging of the posterior part of adjacent ribs NOT_TRANSLATED +en Complete right sided absence of pericardium HP:0011631 rdfs:label nl Totale rechtszijdige afwezigheid van het pericardium CANDIDATE +en Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth HP:0025088 IAO:0000115 nl Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth NOT_TRANSLATED +en Complete tracheal ring HP:0041094 rdfs:label nl Complete tracheal ring NOT_TRANSLATED +en Complex febrile seizure HP:0011172 rdfs:label nl Complexe koortstuipen CANDIDATE +en Complex organic aciduria HP:0008336 rdfs:label nl Complexe organische acidurie CANDIDATE +en Complex palmar dermatoglyphic pattern HP:0007602 rdfs:label nl Complex palmair dermatoglyfisch patroon CANDIDATE +en Complex renal cyst HP:0032963 rdfs:label nl Complex renal cyst NOT_TRANSLATED +en Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0010850 IAO:0000115 nl Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en Compound motor action potential abnormality HP:0033580 rdfs:label nl Compound motor action potential abnormality NOT_TRANSLATED +en Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction HP:0025680 IAO:0000115 nl Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction NOT_TRANSLATED +en Compound muscle action potential amplitude facilitation HP:0025680 rdfs:label nl Compound muscle action potential amplitude facilitation NOT_TRANSLATED +en Compression fracture HP:4000047 rdfs:label nl Compression fracture NOT_TRANSLATED +en Compression of the celiac artery HP:0012327 IAO:0000115 nl Compression of the celiac artery NOT_TRANSLATED +en Compression of the heart caused by rigid, thickened, or fused pericardial membranes HP:0005132 IAO:0000115 nl Compression of the heart caused by rigid, thickened, or fused pericardial membranes NOT_TRANSLATED +en Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness HP:0002341 IAO:0000115 nl Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness NOT_TRANSLATED +en Compression-fractured cervical vertebra HP:0041086 rdfs:label nl Compression-fractured cervical vertebra NOT_TRANSLATED +en Compression-fractured lumbar vertebra HP:0041087 rdfs:label nl Compression-fractured lumbar vertebra NOT_TRANSLATED +en Compression-fractured thoracic vertebra HP:0041084 rdfs:label nl Compression-fractured thoracic vertebra NOT_TRANSLATED +en Compression-fractured vertebra HP:0041085 rdfs:label nl Compression-fractured vertebra NOT_TRANSLATED +en Computed tomographic halo sign HP:0032971 rdfs:label nl Computed tomographic halo sign NOT_TRANSLATED +en Concave nail HP:0001598 rdfs:label nl Concave nagel CANDIDATE +en Concave nasal ridge HP:0011120 rdfs:label nl Concave neusrug CANDIDATE +en Concentration of 2-deoxyuridine in the blood circulation is above the normal range HP:0034277 IAO:0000115 nl Concentration of 2-deoxyuridine in the blood circulation is above the normal range NOT_TRANSLATED +en Concentration of 3-hydroxyisovaleric acid in the urine above the normal range HP:0033111 IAO:0000115 nl Concentration of 3-hydroxyisovaleric acid in the urine above the normal range NOT_TRANSLATED +en Concentration of L-pyroglutamic acid in the blood is above the normal range HP:0033175 IAO:0000115 nl Concentration of L-pyroglutamic acid in the blood is above the normal range NOT_TRANSLATED +en Concentration of growth hormone in the blood circulation below normal limits HP:0034323 IAO:0000115 nl Concentration of growth hormone in the blood circulation below normal limits NOT_TRANSLATED +en Concentration of the nucleobase thymine in the blood circulation above the normal range HP:4000095 IAO:0000115 nl Concentration of the nucleobase thymine in the blood circulation above the normal range NOT_TRANSLATED +en Concentration of thymidine in the blood circulation above the normal range HP:0034276 IAO:0000115 nl Concentration of thymidine in the blood circulation above the normal range NOT_TRANSLATED +en Concentration of uracil in the blood circulation is above the normal range HP:0033139 IAO:0000115 nl Concentration of uracil in the blood circulation is above the normal range NOT_TRANSLATED +en Concentric hypertrophic cardiomyopathy HP:0005157 rdfs:label nl Concentrische hypertrofische cardiomyopathie CANDIDATE +en Concentric rings around the chondrocytes HP:0032930 IAO:0000115 nl Concentric rings around the chondrocytes NOT_TRANSLATED +en Conception by assisted reproductive technology HP:0020121 rdfs:label nl Conception by assisted reproductive technology NOT_TRANSLATED +en Concomitant strabismus HP:0025069 rdfs:label nl Concomitant strabismus CANDIDATE +en Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4) HP:0008223 IAO:0000115 nl Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4) NOT_TRANSLATED +en Conduction block in the anterior division of the left bundle branch of the bundle of His HP:0011711 IAO:0000115 nl Conduction block in the anterior division of the left bundle branch of the bundle of His NOT_TRANSLATED +en Conduction block in the posterior division of the left bundle branch of the bundle of His HP:0005172 IAO:0000115 nl Conduction block in the posterior division of the left bundle branch of the bundle of His NOT_TRANSLATED +en Conductive hearing impairment HP:0000405 rdfs:label nl Geleidend gehoorverlies CANDIDATE +en Cone dystrophy HP:0008020 rdfs:label nl Progressieve kegel degeneratie CANDIDATE +en Cone monochromacy HP:0011517 rdfs:label nl Kegel monochromasie CANDIDATE +en Cone-shaped capital femoral epiphysis HP:0008789 rdfs:label nl Kegel-vormige epifyse van de femurkop CANDIDATE +en Cone-shaped distal radial epiphysis HP:0004000 rdfs:label nl Kegel-vormige distale epifyse van radius CANDIDATE +en Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery HP:0010579 IAO:0000115 nl Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery NOT_TRANSLATED +en Cone-shaped epiphyses fused within their metaphyses HP:0005066 rdfs:label nl Kegel-vormige epifysen gefuseerd binnen hun metafysen CANDIDATE +en Cone-shaped epiphyses of phalanges 2 to 5 HP:0006035 rdfs:label nl Kegel-vormige epifysen van falangen 2 tot 5 CANDIDATE +en Cone-shaped epiphyses of the 2nd finger HP:0009490 rdfs:label nl Kegel-vormige epifyses van de 2e vinger CANDIDATE +en Cone-shaped epiphyses of the 2nd toe HP:0100046 rdfs:label nl Kegel-vormige epifysen van de 2e teen CANDIDATE +en Cone-shaped epiphyses of the 3rd finger HP:0009412 rdfs:label nl Kegel-vormige epifyses van de 3e vinger CANDIDATE +en Cone-shaped epiphyses of the 3rd toe HP:0100057 rdfs:label nl Kegel-vormige epifysen van de 3e teen CANDIDATE +en Cone-shaped epiphyses of the 4th finger HP:0009395 rdfs:label nl Kegel-vormige epifyses van de 4e vinger CANDIDATE +en Cone-shaped epiphyses of the 4th toe HP:0100068 rdfs:label nl Kegel-vormige epifysen van de 4e teen CANDIDATE +en Cone-shaped epiphyses of the 5th finger HP:0009384 rdfs:label nl Kegel-vormige epifyses van de 5e vinger CANDIDATE +en Cone-shaped epiphyses of the 5th toe HP:0100079 rdfs:label nl Kegel-vormige epifysen van de 5e teen CANDIDATE +en Cone-shaped epiphyses of the distal phalanges of the hand HP:0010248 rdfs:label nl Kegel-vormige epifysen van distale falangen van hand CANDIDATE +en Cone-shaped epiphyses of the hallux HP:0010115 rdfs:label nl Kegel-vormige epifysen van de hallux CANDIDATE +en Cone-shaped epiphyses of the middle phalanges of the hand HP:0010259 rdfs:label nl Kegel-vormige epifysen van middelste falangen van hand CANDIDATE +en Cone-shaped epiphyses of the phalanges of the hand HP:0010230 rdfs:label nl Kegel-vormige epifysen van falangen van hand CANDIDATE +en Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery HP:0034281 IAO:0000115 nl Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery NOT_TRANSLATED +en Cone-shaped epiphyses of the proximal phalanges of the hand HP:0010270 rdfs:label nl Kegel-vormige epifysen van proximale falangen van hand CANDIDATE +en Cone-shaped epiphyses of the toes HP:0010164 rdfs:label nl Kegel-vormige epifysen van de tenen CANDIDATE +en Cone-shaped epiphysis HP:0010579 rdfs:label nl Kegel-vormige epifyse CANDIDATE +en Cone-shaped epiphysis of the 1st metacarpal HP:0010017 rdfs:label nl Kegel-vormige epifyse van de 1e metacarpaal CANDIDATE +en Cone-shaped epiphysis of the 1st metatarsal HP:0010151 rdfs:label nl Kegel-vormige epifyse van de 1e metatarsaal CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 2nd finger HP:0009504 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 2e vinger CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 2nd toe HP:0100102 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 2e teen CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 3rd finger HP:0009337 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 3e vinger CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 3rd toe HP:0100137 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 3e teen CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 4th finger HP:0009252 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 4e vinger CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 4th toe HP:0100171 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 4e teen CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 5th finger HP:0004222 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 5e vinger CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the 5th toe HP:0100204 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de 5e teen CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the hallux HP:0010140 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de hallux CANDIDATE +en Cone-shaped epiphysis of the distal phalanx of the thumb HP:0009677 rdfs:label nl Kegel-vormige epifyse van de distale falanx van de duim CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 2nd finger HP:0009515 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 2nd toe HP:0100113 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 2e teen CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 3rd finger HP:0009323 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 3rd toe HP:0100148 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 3e teen CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 4th finger HP:0009216 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 4th toe HP:0100182 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 4e teen CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 5th finger HP:0009205 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Cone-shaped epiphysis of the middle phalanx of the 5th toe HP:0100215 rdfs:label nl Kegel-vormige epifyse van de middelste falanx van de 5e teen CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 2nd finger HP:0009526 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 2nd toe HP:0100124 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 2e teen CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 3rd finger HP:0009348 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 3rd toe HP:0100159 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 3e teen CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 4th finger HP:0009263 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 4th toe HP:0100193 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 4e teen CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 5th finger HP:0009155 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the 5th toe HP:0100226 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de 5e teen CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the hallux HP:0010129 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de hallux CANDIDATE +en Cone-shaped epiphysis of the proximal phalanx of the thumb HP:0009666 rdfs:label nl Kegel-vormige epifyse van de proximale falanx van de duim CANDIDATE +en Cone-shaped epiphysis of the thumb HP:0009688 rdfs:label nl Kegel-vormige epifyses van de duim CANDIDATE +en Cone-shaped metacarpal epiphyses HP:0006059 rdfs:label nl Kegel-vormige metacarpale epifysen CANDIDATE +en Cone/cone-rod dystrophy HP:0000548 rdfs:label nl Kegel/kegel-staafdystrofie CANDIDATE +en Confetti hypopigmentation pattern of lower leg skin HP:0007554 rdfs:label nl Confetti-patroon van hypopigmentatie van huid van onderben CANDIDATE +en Confetti-like hypopigmented macules HP:0007449 rdfs:label nl Confetti-achtige gehypopigmenteerde maculae CANDIDATE +en Confluent hyperintensity of cerebral white matter on MRI HP:0040330 rdfs:label nl Confluerende hyperintensiteit van cerebrale witte stof op MRI CANDIDATE +en Confluent hypointensity of cerebral white matter on MRI HP:0040333 rdfs:label nl Confluerende hypointensiteit van cerebrale witte stof op MRI CANDIDATE +en Confusion HP:0001289 rdfs:label nl Verwarring CANDIDATE +en Confusional arousal HP:0025237 rdfs:label nl Confusional arousal CANDIDATE +en Congenital Horner syndrome HP:0006837 rdfs:label nl Congenitaal Horner syndroom CANDIDATE +en Congenital abnormal dilation of the pupil on both sides HP:0007932 IAO:0000115 nl Congenital abnormal dilation of the pupil on both sides NOT_TRANSLATED +en Congenital abnormal hair pattern HP:0011361 rdfs:label nl Congenitaal afwijkend haar patroon CANDIDATE +en Congenital abnormality of the extraocular muscles HP:0007647 IAO:0000115 nl Congenital abnormality of the extraocular muscles NOT_TRANSLATED +en Congenital absence (aplasia) of one or more limbs HP:0009827 IAO:0000115 nl Congenital absence (aplasia) of one or more limbs NOT_TRANSLATED +en Congenital absence of a carpal bone HP:0004231 IAO:0000115 nl Congenital absence of a carpal bone NOT_TRANSLATED +en Congenital absence of a part of the vermis of cerebellum HP:0002951 IAO:0000115 nl Congenital absence of a part of the vermis of cerebellum NOT_TRANSLATED +en Congenital absence of foreskin HP:0012421 rdfs:label nl Congenitale afwezigheid van voorhuid CANDIDATE +en Congenital absence of gluteal muscles HP:0009013 rdfs:label nl Congenitale afwezigheid van gluteusspieren CANDIDATE +en Congenital absence of portal vein HP:0031942 rdfs:label nl Congenital absence of portal vein NOT_TRANSLATED +en Congenital absence of skin of limbs HP:0007506 rdfs:label nl Congenitale afwezigheid van huid van ledematen CANDIDATE +en Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract HP:0002023 IAO:0000115 nl Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract NOT_TRANSLATED +en Congenital absence of the cervix HP:0030008 IAO:0000115 nl Congenital absence of the cervix NOT_TRANSLATED +en Congenital absence of the colon HP:0500027 IAO:0000115 nl Congenital absence of the colon NOT_TRANSLATED +en Congenital absence of the extraocular muscles HP:0007886 IAO:0000115 nl Congenital absence of the extraocular muscles NOT_TRANSLATED +en Congenital absence of the fovea HP:0011503 IAO:0000115 nl Congenital absence of the fovea NOT_TRANSLATED +en Congenital absence of the left half of the diaphragm HP:0009112 IAO:0000115 nl Congenital absence of the left half of the diaphragm NOT_TRANSLATED +en Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present HP:0008750 IAO:0000115 nl Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present NOT_TRANSLATED +en Congenital absence of the myelin sheath on a nerve HP:0030172 IAO:0000115 nl Congenital absence of the myelin sheath on a nerve NOT_TRANSLATED +en Congenital absence of the normal opening of a structure of the urinary tract HP:0000809 IAO:0000115 nl Congenital absence of the normal opening of a structure of the urinary tract NOT_TRANSLATED +en Congenital absence of the optic nerve HP:0012521 IAO:0000115 nl Congenital absence of the optic nerve NOT_TRANSLATED +en Congenital absence of the radial artery HP:0020118 IAO:0000115 nl Congenital absence of the radial artery NOT_TRANSLATED +en Congenital absence of the right-sided diaphragm HP:0032592 IAO:0000115 nl Congenital absence of the right-sided diaphragm NOT_TRANSLATED +en Congenital absence of the scaphoid. HP:0011835 IAO:0000115 nl Congenital absence of the scaphoid. NOT_TRANSLATED +en Congenital absence of the scrotum HP:0008707 IAO:0000115 nl Congenital absence of the scrotum NOT_TRANSLATED +en Congenital absence of the spinal cord HP:0100566 IAO:0000115 nl Congenital absence of the spinal cord NOT_TRANSLATED +en Congenital absence of the toenail HP:0001802 IAO:0000115 nl Congenital absence of the toenail NOT_TRANSLATED +en Congenital absence of the vermis of cerebellum HP:0002335 IAO:0000115 nl Congenital absence of the vermis of cerebellum NOT_TRANSLATED +en Congenital absence or closure of the opening of the lacrimal punctum HP:0007820 IAO:0000115 nl Congenital absence or closure of the opening of the lacrimal punctum NOT_TRANSLATED +en Congenital absence or underdevelopment of the colon HP:0100811 IAO:0000115 nl Congenital absence or underdevelopment of the colon NOT_TRANSLATED +en Congenital absence or underdevelopment of the fovea centralis HP:0008060 IAO:0000115 nl Congenital absence or underdevelopment of the fovea centralis NOT_TRANSLATED +en Congenital adrenal hyperplasia HP:0008258 rdfs:label nl Congenitale bijnier hyperplasie CANDIDATE +en Congenital adrenal hypoplasia HP:0008244 rdfs:label nl Congenitale bijnier hypoplasie CANDIDATE +en Congenital agranulocytosis HP:0005541 rdfs:label nl Congenitale agranulocytose CANDIDATE +en Congenital alopecia totalis HP:0005597 rdfs:label nl Congenitale alopecia totalis CANDIDATE +en Congenital alveolar dysplasia HP:0033210 rdfs:label nl Congenital alveolar dysplasia NOT_TRANSLATED +en Congenital anomaly characterized by closure or failure to develop an opening in the urethra HP:0000068 IAO:0000115 nl Congenital anomaly characterized by closure or failure to develop an opening in the urethra NOT_TRANSLATED +en Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females HP:0000067 IAO:0000115 nl Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females NOT_TRANSLATED +en Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males HP:0000052 IAO:0000115 nl Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males NOT_TRANSLATED +en Congenital aphakia HP:0007707 rdfs:label nl Afakie CANDIDATE +en Congenital atresia of the pylorus HP:0004399 IAO:0000115 nl Congenital atresia of the pylorus NOT_TRANSLATED +en Congenital atrioventricular dissociation HP:0004752 rdfs:label nl Congenitale atrioventriculaire dissociatie CANDIDATE +en Congenital bilateral hip dislocation HP:0008780 rdfs:label nl Congenitale bilaterale hip dislocatie CANDIDATE +en Congenital bilateral ptosis HP:0007911 rdfs:label nl Congenitale bilaterale ptosis CANDIDATE +en Congenital blindness HP:0007875 rdfs:label nl Congenitale blindheid CANDIDATE +en Congenital bullous ichthyosiform erythroderma HP:0007475 rdfs:label nl Congenitale bulleuze ichthyosiforme erytrodermie CANDIDATE +en Congenital conductive hearing impairment HP:0008591 rdfs:label nl Congenitale conductieve slechthorendheid CANDIDATE +en Congenital contracture HP:0002803 rdfs:label nl Aangeboren contractuur CANDIDATE +en Congenital craniofacial dysostosis HP:0008497 rdfs:label nl Congenitale craniofaciale dysostose CANDIDATE +en Congenital curved nail of fourth toe HP:0008393 rdfs:label nl Congenitale gebogen nagel van vierde teen CANDIDATE +en Congenital deep dermal melanosis in the sacral area HP:0011369 IAO:0000115 nl Congenital deep dermal melanosis in the sacral area NOT_TRANSLATED +en Congenital defect characterized by underdevelopment of the tricuspid valve HP:0011573 IAO:0000115 nl Congenital defect characterized by underdevelopment of the tricuspid valve NOT_TRANSLATED +en Congenital defect of the pericardium HP:0011628 rdfs:label nl Congenitaal defect van het pericardium CANDIDATE +en Congenital defect with failure of the development of the cerebral white matter HP:0200017 IAO:0000115 nl Congenital defect with failure of the development of the cerebral white matter NOT_TRANSLATED +en Congenital developmental defect arising from the primitive branchial apparatus HP:0009794 IAO:0000115 nl Congenital developmental defect arising from the primitive branchial apparatus NOT_TRANSLATED +en Congenital diaphragmatic hernia HP:0000776 rdfs:label nl Aangeboren hernia diafragmatica CANDIDATE +en Congenital duplication of all or part of a limb HP:0100524 IAO:0000115 nl Congenital duplication of all or part of a limb NOT_TRANSLATED +en Congenital earlobe sinuses HP:0004461 rdfs:label nl Congenital earlobe sinuses NOT_TRANSLATED +en Congenital encephalopathy HP:0007239 rdfs:label nl Congenitale encefalopathie CANDIDATE +en Congenital exfoliative erythroderma HP:0007381 rdfs:label nl Congenitale exfoliatieve erytrodermie CANDIDATE +en Congenital extraocular muscle anomaly HP:0007647 rdfs:label nl Congenitale extra-oculaire spier afwijking CANDIDATE +en Congenital facial diplegia HP:0007188 rdfs:label nl Moebius syndroom CANDIDATE +en Congenital failure to develop, and absence of, the nipple HP:0002561 IAO:0000115 nl Congenital failure to develop, and absence of, the nipple NOT_TRANSLATED +en Congenital fibrosis of extraocular muscles HP:0001491 rdfs:label nl Congenitale fibrose van extraoculaire spieren CANDIDATE +en Congenital finger flexion contractures HP:0005879 rdfs:label nl Congenitale vinger flexie contracturen CANDIDATE +en Congenital foot contraction deformities HP:0005853 rdfs:label nl Congenitale voet contractie deformiteiten CANDIDATE +en Congenital foot contractures HP:0005745 rdfs:label nl Congenitale voet contracturen CANDIDATE +en Congenital fusion (ankylosis) of the interphalangeal joint of the thumb HP:0009656 IAO:0000115 nl Congenital fusion (ankylosis) of the interphalangeal joint of the thumb NOT_TRANSLATED +en Congenital generalized lipodystrophy HP:0009059 rdfs:label nl Congenitale gegeneraliseerde lipodystrofie CANDIDATE +en Congenital giant melanocytic nevus HP:0005600 rdfs:label nl Congenitale reus melanocytaire naevus CANDIDATE +en Congenital goiter HP:0008251 rdfs:label nl Congenitaal struma CANDIDATE +en Congenital hemolytic anemia HP:0004804 rdfs:label nl Congenitale hemolytische anemie CANDIDATE +en Congenital hepatic fibrosis HP:0002612 rdfs:label nl Aangeboren hepatische fibrose CANDIDATE +en Congenital hip dislocation HP:0001374 rdfs:label nl Congenitale heupontwrichting CANDIDATE +en Congenital horizontal nystagmus HP:0007859 rdfs:label nl Congenitale horizontale nystagmus CANDIDATE +en Congenital hydrocele HP:4000037 rdfs:label nl Congenital hydrocele NOT_TRANSLATED +en Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through HP:4000037 IAO:0000115 nl Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through NOT_TRANSLATED +en Congenital hypertrophy of left ventricle HP:0005129 rdfs:label nl Congenitale hypertrofie van de linkerventrikel CANDIDATE +en Congenital hypertrophy of retinal pigment epithelium HP:0007649 rdfs:label nl Congenitale hypertrofie van retina pigment epitheel CANDIDATE +en Congenital hypoparathyroidism HP:0008198 rdfs:label nl Congenitaal hypoparathyroïdisme CANDIDATE +en Congenital hypoplasia of one or more proximal phalanx of finger HP:0010241 IAO:0000115 nl Congenital hypoplasia of one or more proximal phalanx of finger NOT_TRANSLATED +en Congenital hypoplasia of proximal phalanx of finger or all fingers HP:0006144 IAO:0000115 nl Congenital hypoplasia of proximal phalanx of finger or all fingers NOT_TRANSLATED +en Congenital hypoplastic anemia HP:0004810 rdfs:label nl Congenitale hypoplastische anemie CANDIDATE +en Congenital hypothyroidism HP:0000851 rdfs:label nl Congenitale hypothyreoïdie CANDIDATE +en Congenital ichthyosiform erythroderma HP:0007431 rdfs:label nl Congenitale ichthyosiforme erytrodermie CANDIDATE +en Congenital intracerebral calcification HP:0006906 rdfs:label nl Congenitale intracerebrale verkalking CANDIDATE +en Congenital knee dislocation HP:0005191 rdfs:label nl Congenitale knie dislocatie CANDIDATE +en Congenital kyphoscoliosis HP:0008453 rdfs:label nl Congenitale kyfoscoliose CANDIDATE +en Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue HP:0003634 IAO:0000115 nl Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue NOT_TRANSLATED +en Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis HP:0012421 IAO:0000115 nl Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis NOT_TRANSLATED +en Congenital lack, i.e., aplasia of the diaphragm HP:0008986 IAO:0000115 nl Congenital lack, i.e., aplasia of the diaphragm NOT_TRANSLATED +en Congenital lactic acidosis HP:0004902 rdfs:label nl Congenitale lactaat acidose CANDIDATE +en Congenital laryngeal stridor HP:0004886 rdfs:label nl Congenitale laryngeale stridor CANDIDATE +en Congenital lobar overinflation HP:0033255 rdfs:label nl Congenital lobar overinflation NOT_TRANSLATED +en Congenital localized absence of skin HP:0007383 rdfs:label nl Congenitale lokale afwezigheid van huid CANDIDATE +en Congenital macroorchidism HP:0008640 rdfs:label nl Congenitaal macroorchidisme CANDIDATE +en Congenital malformation of the great arteries HP:0011603 rdfs:label nl Congenitale misvorming van de grote slagaders CANDIDATE +en Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies HP:0007993 IAO:0000115 nl Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies NOT_TRANSLATED +en Congenital malformation of the left heart HP:0045017 rdfs:label nl Congenitale malformatie van het linker hart CANDIDATE +en Congenital malformation of the right heart HP:0011723 rdfs:label nl Congenitale malformatie van het rechter hart CANDIDATE +en Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum HP:0011585 IAO:0000115 nl Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum NOT_TRANSLATED +en Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity HP:0011586 IAO:0000115 nl Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity NOT_TRANSLATED +en Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall HP:0001683 IAO:0000115 nl Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall NOT_TRANSLATED +en Congenital megalourethra HP:0030723 rdfs:label nl Congenitale megalourethra CANDIDATE +en Congenital megaureter HP:0008676 rdfs:label nl Congenitaal megaureter CANDIDATE +en Congenital mesoblastic nephroma HP:0100881 rdfs:label nl Aangeboren mesoblastisch nefroom CANDIDATE +en Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue HP:0100881 IAO:0000115 nl Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue NOT_TRANSLATED +en Congenital microthorax HP:0006647 rdfs:label nl Congenitale microthorax CANDIDATE +en Congenital miosis HP:0007728 rdfs:label nl Congenitale miosis CANDIDATE +en Congenital mitral stenosis HP:0011570 rdfs:label nl Congenitale mitralisstenose CANDIDATE +en Congenital muscular dystrophy HP:0003741 rdfs:label nl Congenitale spierdystrofie CANDIDATE +en Congenital muscular torticollis HP:0005988 rdfs:label nl Congenitale musculaire torticollis CANDIDATE +en Congenital nephrotic syndrome HP:0008677 rdfs:label nl Congenitaal nefrotisch syndroom CANDIDATE +en Congenital neuroblastoma HP:0006742 rdfs:label nl Congenitaal neuroblastoom CANDIDATE +en Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements HP:0001491 IAO:0000115 nl Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements NOT_TRANSLATED +en Congenital nonbullous ichthyosiform erythroderma HP:0007479 rdfs:label nl Congenitale non-bulleuze ichthyosiforme erytrodermie CANDIDATE +en Congenital nystagmus HP:0006934 rdfs:label nl Congenitale nystagmus CANDIDATE +en Congenital occlusion of a tube in the genital tract HP:0001827 IAO:0000115 nl Congenital occlusion of a tube in the genital tract NOT_TRANSLATED +en Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion HP:0000148 IAO:0000115 nl Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion NOT_TRANSLATED +en Congenital onset HP:0003577 rdfs:label nl Congenitale onset CANDIDATE +en Congenital onset bending or abnormal curvature of the femur that normalizes with age HP:0005005 IAO:0000115 nl Congenital onset bending or abnormal curvature of the femur that normalizes with age NOT_TRANSLATED +en Congenital onset of a marked decrease in the number of granulocytes HP:0005541 IAO:0000115 nl Congenital onset of a marked decrease in the number of granulocytes NOT_TRANSLATED +en Congenital onychodystrophy HP:0008394 rdfs:label nl Congenitale onychodystrofie CANDIDATE +en Congenital palmoplantar hyperkeratosis HP:0007545 rdfs:label nl Congenitale palmoplantaire keratose CANDIDATE +en Congenital panfollicular nevus HP:0025471 rdfs:label nl Congenitale panfolliculaire naevus CANDIDATE +en Congenital peripheral neuropathy HP:0006903 rdfs:label nl Congenitale perifere neuropathie CANDIDATE +en Congenital portosystemic venous shunt HP:0012022 rdfs:label nl Congenital portosystemic venous shunt NOT_TRANSLATED +en Congenital posterior occipital alopecia HP:0007534 rdfs:label nl Congenitale posterieure occipitale alopecia CANDIDATE +en Congenital posterior urethral valve HP:0010957 rdfs:label nl Congenitale urethraklep CANDIDATE +en Congenital pouch colon HP:0034301 rdfs:label nl Congenital pouch colon NOT_TRANSLATED +en Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls HP:0100657 IAO:0000115 nl Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls NOT_TRANSLATED +en Congenital pseudoarthrosis of the clavicle HP:0006585 rdfs:label nl Congenitale pseudoartrose van de clavicula CANDIDATE +en Congenital ptosis HP:0007970 rdfs:label nl Congenitale ptosis CANDIDATE +en Congenital pulmonary airway malformation HP:0010959 rdfs:label nl Congenitale cysteuze adenomatoïde malformatie van de long CANDIDATE +en Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles HP:0010959 IAO:0000115 nl Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles NOT_TRANSLATED +en Congenital pyloric atresia HP:0004399 rdfs:label nl Congenitale pylorus atresie CANDIDATE +en Congenital sensorineural hearing impairment HP:0008527 rdfs:label nl Congenitale perceptieve slechthorendheid CANDIDATE +en Congenital shortened small intestine HP:0030889 rdfs:label nl Congenitaal verkorte dunne darm CANDIDATE +en Congenital stapes ankylosis HP:0007943 rdfs:label nl Congenitale stapes ankylose CANDIDATE +en Congenital stationary cone dysfunction HP:0030637 rdfs:label nl Congenital stationary cone dysfunction NOT_TRANSLATED +en Congenital stationary night blindness HP:0007642 rdfs:label nl Congenitale stationaire nachtblindheid CANDIDATE +en Congenital stationary night blindness with abnormal fundus HP:0030639 rdfs:label nl Congenital stationary night blindness with abnormal fundus NOT_TRANSLATED +en Congenital stationary night blindness with normal fundus HP:0030638 rdfs:label nl Congenital stationary night blindness with normal fundus NOT_TRANSLATED +en Congenital symmetrical palmoplantar keratosis HP:0007553 rdfs:label nl Congenitale symmetrische palmoplantaire keratose CANDIDATE +en Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies) HP:0003305 IAO:0000115 nl Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies) NOT_TRANSLATED +en Congenital talipes calcaneovalgus HP:0005850 rdfs:label nl Congenitale talipes calcaneovalgus CANDIDATE +en Congenital thrombocytopenia HP:0001905 rdfs:label nl Congenitale trombocytopenie CANDIDATE +en Congenital underdevelopment of lymph vessels HP:0003759 IAO:0000115 nl Congenital underdevelopment of lymph vessels NOT_TRANSLATED +en Congenital underdevelopment of the iris HP:0007676 IAO:0000115 nl Congenital underdevelopment of the iris NOT_TRANSLATED +en Congenital, generalized hypertrichosis HP:0004540 rdfs:label nl Congenitale, gegeneraliseerde hypertrichose CANDIDATE +en Congenitally corrected transposition of the great arteries HP:0011540 rdfs:label nl Congenitale gecorrigeerde transpositie van de grote vaten CANDIDATE +en Congenitally corrected transposition of the great arteries with ventricular septal defect HP:0011605 rdfs:label nl Congenitaal gecorrigeerde transpositie van de grote slagaders met ventriculair septal defect CANDIDATE +en Congestive heart failure HP:0001635 rdfs:label nl Congestieve hartfalen CANDIDATE +en Congruous heteronymous hemianopia HP:0030519 rdfs:label nl Congruente heteronieme hemianopsie CANDIDATE +en Congruous homonymous hemianopia HP:0030518 rdfs:label nl Congruente homonieme hemianopsie CANDIDATE +en Conical incisor HP:0011065 rdfs:label nl Conische snijtand CANDIDATE +en Conical mandibular incisor HP:0006339 rdfs:label nl Conische mandibulaire snijtand CANDIDATE +en Conical maxillary incisor HP:0011083 rdfs:label nl Conische maxillaire snijtand CANDIDATE +en Conical primary incisor HP:0011082 rdfs:label nl Conische primaire snijtand CANDIDATE +en Conical tooth HP:0000698 rdfs:label nl Conische tand CANDIDATE +en Conjugated hyperbilirubinemia HP:0002908 rdfs:label nl Geconjugeerde hyperbilirubinemie CANDIDATE +en Conjunctival amyloidosis HP:0010637 rdfs:label nl Conjunctivale amyloïdose CANDIDATE +en Conjunctival cicatrization HP:0500039 rdfs:label nl Conjunctival cicatrization NOT_TRANSLATED +en Conjunctival dermolipoma HP:0500070 rdfs:label nl Conjunctival dermolipoma NOT_TRANSLATED +en Conjunctival follicles HP:0030947 rdfs:label nl Conjunctivale follikels CANDIDATE +en Conjunctival hamartoma HP:0100780 rdfs:label nl Conjunctivaal hamartoom CANDIDATE +en Conjunctival hyperemia HP:0030953 rdfs:label nl Conjunctivale hyperemie CANDIDATE +en Conjunctival icterus HP:0032106 rdfs:label nl Conjunctival icterus NOT_TRANSLATED +en Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease HP:0032106 IAO:0000115 nl Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease NOT_TRANSLATED +en Conjunctival lipoma HP:0012549 rdfs:label nl Conjunctivaal lipoom CANDIDATE +en Conjunctival nodule HP:0009903 rdfs:label nl Conjunctivale nodulus CANDIDATE +en Conjunctival papillae HP:0030946 rdfs:label nl Conjunctivale papillae CANDIDATE +en Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein HP:0025350 IAO:0000115 nl Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein NOT_TRANSLATED +en Conjunctival telangiectasia HP:0000524 rdfs:label nl Conjunctivale telangiëctasie CANDIDATE +en Conjunctival whitish salt-like deposits HP:0007799 rdfs:label nl Conjunctivale witachtige zout-achtige deposities CANDIDATE +en Conjunctivitis HP:0000509 rdfs:label nl Conjunctivitis CANDIDATE +en Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart HP:0011553 IAO:0000115 nl Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart NOT_TRANSLATED +en Connective tissue nevi HP:0100898 rdfs:label nl Bindweefsel neavi CANDIDATE +en Connective tissue nevi are hamartomas in which one or several components of the dermis is altered HP:0100898 IAO:0000115 nl Connective tissue nevi are hamartomas in which one or several components of the dermis is altered NOT_TRANSLATED +en Conotruncal defect HP:0001710 rdfs:label nl Conotruncaal defect CANDIDATE +en Consecutive esotropia HP:0031767 rdfs:label nl Consecutieve esotropie CANDIDATE +en Consecutive exotropia HP:0031718 rdfs:label nl Consecutieve esotropie CANDIDATE +en Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia) HP:0032177 IAO:0000115 nl Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia) NOT_TRANSLATED +en Conspicuously happy disposition HP:0100024 rdfs:label nl Opvallen blij karakter CANDIDATE +en Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction HP:0031761 IAO:0000115 nl Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction NOT_TRANSLATED +en Constant exotropia HP:0031713 rdfs:label nl Constante exotropie CANDIDATE +en Constant exotropia for near and distance, presenting after 6 months of age HP:0032010 IAO:0000115 nl Constant exotropia for near and distance, presenting after 6 months of age NOT_TRANSLATED +en Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities HP:0032009 IAO:0000115 nl Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities NOT_TRANSLATED +en Constipation HP:0002019 rdfs:label nl Constipatie CANDIDATE +en Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation HP:0012450 IAO:0000115 nl Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation NOT_TRANSLATED +en Constipation of sudden onset and lasting for less than three months HP:0012451 IAO:0000115 nl Constipation of sudden onset and lasting for less than three months NOT_TRANSLATED +en Constitutional symptom HP:0025142 rdfs:label nl Constitutioneel symptoom CANDIDATE +en Constricted iliac wing HP:0003277 rdfs:label nl Vernauwde alae ossis ilium CANDIDATE +en Constricted radial neck HP:0003998 rdfs:label nl Vernauwde adiushals CANDIDATE +en Constricted radius HP:0003976 rdfs:label nl Vernauwde radius CANDIDATE +en Constriction of peripheral visual field HP:0001133 rdfs:label nl Vernauwing van perifeer gezichtsveld CANDIDATE +en Constrictive median neuropathy HP:0012185 rdfs:label nl Constrictieve mediane neuropathie CANDIDATE +en Constrictive pericarditis HP:0002563 rdfs:label nl Constrictieve pericarditis CANDIDATE +en Contact dermatitis HP:0032282 rdfs:label nl Contact dermatitis NOT_TRANSLATED +en Context-inappropriate facial expressions HP:4000088 rdfs:label nl Context-inappropriate facial expressions NOT_TRANSLATED +en Contiguous gene syndrome HP:0001466 rdfs:label nl Aaneengesloten gen syndroom CANDIDATE +en Continuous diaphragm sign HP:0032173 rdfs:label nl Continuous diaphragm sign NOT_TRANSLATED +en Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles HP:0100283 IAO:0000115 nl Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles NOT_TRANSLATED +en Continuous heart murmur HP:0031670 rdfs:label nl Continue souffle CANDIDATE +en Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity HP:0002063 IAO:0000115 nl Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity NOT_TRANSLATED +en Continuous or nearly continuous configuration of the cartilaginous tracheal ring HP:0041094 IAO:0000115 nl Continuous or nearly continuous configuration of the cartilaginous tracheal ring NOT_TRANSLATED +en Continuous spike and waves during slow sleep HP:0031491 rdfs:label nl Continuous spike and waves during slow sleep NOT_TRANSLATED +en Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha HP:0011255 IAO:0000115 nl Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha NOT_TRANSLATED +en Contracture of proximal interphalangeal joints of 2nd-5th fingers HP:0030675 rdfs:label nl Contractuur van proximale interfalangeale gewrichten van de 2e-5e vinger CANDIDATE +en Contracture of the distal interphalangeal joint of the 2nd finger HP:0009538 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 2e vinger CANDIDATE +en Contracture of the distal interphalangeal joint of the 2nd toe HP:0100352 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 2e teen CANDIDATE +en Contracture of the distal interphalangeal joint of the 3rd finger HP:0009469 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 3e vinger CANDIDATE +en Contracture of the distal interphalangeal joint of the 3rd toe HP:0100353 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 3e teen CANDIDATE +en Contracture of the distal interphalangeal joint of the 4th finger HP:0009275 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 4e vinger CANDIDATE +en Contracture of the distal interphalangeal joint of the 4th toe HP:0100354 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 4e teen CANDIDATE +en Contracture of the distal interphalangeal joint of the 5th finger HP:0009184 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 5e vinger CANDIDATE +en Contracture of the distal interphalangeal joint of the fingers HP:0009697 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de vingers CANDIDATE +en Contracture of the interphalangeal joint of the hallux HP:0010214 rdfs:label nl Contractuur van het interfalangeale gewricht van de hallux CANDIDATE +en Contracture of the metacarpophalangeal joint of the 2nd finger HP:0009539 rdfs:label nl Contractuur van het metacarpofalangeale gewricht van de 2e vinger CANDIDATE +en Contracture of the metacarpophalangeal joint of the 3rd finger HP:0009470 rdfs:label nl Contractuur van het metacarpofalangeale gewricht van de 3e vinger CANDIDATE +en Contracture of the metacarpophalangeal joint of the 4th finger HP:0009277 rdfs:label nl Contractuur van het metacarpofalangeale gewricht van de 4e vinger CANDIDATE +en Contracture of the metacarpophalangeal joint of the 5th finger HP:0009186 rdfs:label nl Contractuur van het metacarpofalangeale gewricht van de 5e vinger CANDIDATE +en Contracture of the metatarsophalangeal joint of the 2nd toe HP:0100356 rdfs:label nl Contractuur van het metatarsofalangeale gewricht van de 2e teen CANDIDATE +en Contracture of the metatarsophalangeal joint of the 3rd toe HP:0100357 rdfs:label nl Contractuur van het metatarsofalangeale gewricht van de 3e teen CANDIDATE +en Contracture of the metatarsophalangeal joint of the 4th toe HP:0100358 rdfs:label nl Contractuur van het metatarsofalangeale gewricht van de 4e teen CANDIDATE +en Contracture of the metatarsophalangeal joint of the 5th toe HP:0100359 rdfs:label nl Contractuur van het metatarsofalangeale gewricht van de 5e teen CANDIDATE +en Contracture of the proximal interphalangeal joint of the 2nd finger HP:0009540 rdfs:label nl Contractuur van het proximale interfalangeale gewricht van de 2e vinger CANDIDATE +en Contracture of the proximal interphalangeal joint of the 2nd toe HP:0100348 rdfs:label nl Contractuur van het proximale interfalangeale gewricht van de 2e teen CANDIDATE +en Contracture of the proximal interphalangeal joint of the 3rd finger HP:0009471 rdfs:label nl Contractuur van het proximale interfalangeale gewricht van de 3e vinger CANDIDATE +en Contracture of the proximal interphalangeal joint of the 3rd toe HP:0100349 rdfs:label nl Contractuur van het proximale interfalangeale gewricht van de 3e teen CANDIDATE +en Contracture of the proximal interphalangeal joint of the 4th finger HP:0009276 rdfs:label nl Contractuur van het proximale interfalangeale gewricht van de 4e vinger CANDIDATE +en Contracture of the proximal interphalangeal joint of the 4th toe HP:0100350 rdfs:label nl Contracturen van het proximale interfalangeale gewricht van de 4e teen CANDIDATE +en Contracture of the proximal interphalangeal joint of the 5th finger HP:0009185 rdfs:label nl Contractuur van het proximale interfalangeale gewricht van de 5e vinger CANDIDATE +en Contracture of the tarsometatarsal joint of the hallux HP:0010213 rdfs:label nl Contractuur van het tarsometatarsale gewricht van de hallux CANDIDATE +en Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue HP:0008366 IAO:0000115 nl Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue NOT_TRANSLATED +en Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue HP:0009473 IAO:0000115 nl Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue NOT_TRANSLATED +en Contractures of the carpometacarpal joint of the thumb HP:0009624 rdfs:label nl Contracturen van het carpometacarpale gewricht van de duim CANDIDATE +en Contractures of the distal interphalangeal joint of the 5th toe HP:0100355 rdfs:label nl Contractuur van het distale interfalangeale gewricht van de 5e teen CANDIDATE +en Contractures of the interphalangeal joint of the thumb HP:0009626 rdfs:label nl Contracturen van het interfalangeale gewricht van de duim CANDIDATE +en Contractures of the large joints HP:0005781 rdfs:label nl Contracturen van de grote gewrichten CANDIDATE +en Contractures of the metacarpophalangeal joint of the thumb HP:0009625 rdfs:label nl Contracturen van het metacarpofalangeale gewricht van de duim CANDIDATE +en Contractures of the metatarsophalangeal joint of the hallux HP:0010215 rdfs:label nl Contracturen van het metatarsofalangeale gewricht van de hallux CANDIDATE +en Contractures of the proximal interphalangeal joint of the 5th toe HP:0100351 rdfs:label nl Contracturen van het proximale interfalangeale gewricht van de 5e teen CANDIDATE +en Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis HP:0032070 IAO:0000115 nl Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis NOT_TRANSLATED +en Conus terminalis arteriovenous malformation HP:0031939 rdfs:label nl Conus terminalis arteriovenous malformation NOT_TRANSLATED +en Convergence excess esotropia HP:0031766 rdfs:label nl Convergence excess esotropia NOT_TRANSLATED +en Convergence-retraction nystagmus HP:0025711 rdfs:label nl Convergence-retraction nystagmus NOT_TRANSLATED +en Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze HP:0025711 IAO:0000115 nl Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze NOT_TRANSLATED +en Convergent squint which follows loss or impairment of vision HP:0031723 IAO:0000115 nl Convergent squint which follows loss or impairment of vision NOT_TRANSLATED +en Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle HP:0031763 IAO:0000115 nl Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle NOT_TRANSLATED +en Convex contour of sole HP:0011303 rdfs:label nl Convexe contour van zool CANDIDATE +en Convex nasal ridge HP:0000444 rdfs:label nl Bolle neusrug CANDIDATE +en Convulsive status epilepticus HP:0032660 rdfs:label nl Convulsive status epilepticus NOT_TRANSLATED +en Coombs-positive hemolytic anemia HP:0004844 rdfs:label nl Coombs-positieve hemolytisch anemie CANDIDATE +en Copper accumulation in brain HP:0012676 rdfs:label nl Koper accumulatie in brein CANDIDATE +en Copper accumulation in liver HP:0025321 rdfs:label nl Koper accumulatie in lever CANDIDATE +en Copper beaten skull HP:0034271 rdfs:label nl Copper beaten skull NOT_TRANSLATED +en Cor pulmonale HP:0001648 rdfs:label nl Long-hart CANDIDATE +en Cor triatriatum HP:0010774 rdfs:label nl Cor triatriatum CANDIDATE +en Cor triatriatum dexter HP:0011566 rdfs:label nl Cor triatriatum dexter CANDIDATE +en Cor triatrium sinister HP:0031134 rdfs:label nl Cor triatrium sinister CANDIDATE +en Coralliform cataract HP:0010921 rdfs:label nl Coralliform cataract CANDIDATE +en Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age HP:0007720 IAO:0000115 nl Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age NOT_TRANSLATED +en Cornea verticillata HP:0500008 rdfs:label nl Cornea verticillata CANDIDATE +en Corneal arcus HP:0001084 rdfs:label nl Arcus senilis CANDIDATE +en Corneal astigmatism HP:0025612 rdfs:label nl Corneaal astigmatisme CANDIDATE +en Corneal asymmetry HP:0009915 rdfs:label nl Corneale asymmetrie CANDIDATE +en Corneal crystals HP:0000531 rdfs:label nl Corneale kristallen CANDIDATE +en Corneal degeneration HP:0007705 rdfs:label nl Corneale degeneratie CANDIDATE +en Corneal dystrophy HP:0001131 rdfs:label nl Corneadystrofie CANDIDATE +en Corneal erosion HP:0200020 rdfs:label nl Corneale erosie CANDIDATE +en Corneal guttata HP:0012038 rdfs:label nl Cornea guttata CANDIDATE +en Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible HP:0012038 IAO:0000115 nl Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible NOT_TRANSLATED +en Corneal keratic precipitates HP:0025341 rdfs:label nl Corneale keratische precipitates CANDIDATE +en Corneal neovascularization HP:0011496 rdfs:label nl Corneale neovascularisatie CANDIDATE +en Corneal opacity HP:0007957 rdfs:label nl Corneale opaciteit CANDIDATE +en Corneal perforation HP:0100583 rdfs:label nl Corneale perforatie CANDIDATE +en Corneal pterygium HP:0034363 rdfs:label nl Corneal pterygium NOT_TRANSLATED +en Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea HP:0034363 IAO:0000115 nl Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea NOT_TRANSLATED +en Corneal scarring HP:0000559 rdfs:label nl Corneale littekenvorming CANDIDATE +en Corneal stromal edema HP:0012040 rdfs:label nl Corneal stromal edema NOT_TRANSLATED +en Corneal ulceration HP:0012804 rdfs:label nl Corneale ulceratie CANDIDATE +en Corneolenticular adhesion HP:0011485 rdfs:label nl Corneolenticulaire adhesie CANDIDATE +en Corner fracture of metaphysis HP:0003908 rdfs:label nl Metafysaire hoekfractuur CANDIDATE +en Corner fragments of ulnar metaphysis HP:0004040 rdfs:label nl Hoek fragmenten van metafyse van ulna CANDIDATE +en Coronal cleft vertebrae HP:0003417 rdfs:label nl Coronale gespleten wervels CANDIDATE +en Coronal craniosynostosis HP:0004440 rdfs:label nl Coronale craniosynostose CANDIDATE +en Coronal hypospadias HP:0008743 rdfs:label nl Coronale hypospadieën CANDIDATE +en Coronary arteriovenous fistula HP:0031563 rdfs:label nl Coronaire arterioveneuze fistel CANDIDATE +en Coronary artery aneurysm HP:0030882 rdfs:label nl Coronairarterie aneurysma CANDIDATE +en Coronary artery atherosclerosis HP:0001677 rdfs:label nl Coronaire hartziekten CANDIDATE +en Coronary artery calcification HP:0001717 rdfs:label nl Kransslagaderverkalking CANDIDATE +en Coronary artery dissection HP:0006702 rdfs:label nl Coronary artery dissection CANDIDATE +en Coronary artery fistula HP:0011641 rdfs:label nl Coronairarterie fistel CANDIDATE +en Coronary artery sandwich anomaly HP:0025506 rdfs:label nl Coronary artery sandwich anomaly NOT_TRANSLATED +en Coronary artery spasm HP:0025497 rdfs:label nl Coronaire spasmen CANDIDATE +en Coronary artery stenosis HP:0005145 rdfs:label nl Coronair slagader stenose CANDIDATE +en Coronary cameral fistula HP:0031560 rdfs:label nl Coronary cameral fistula NOT_TRANSLATED +en Coronary cameral fistula to right ventricle HP:0031561 rdfs:label nl Coronary cameral fistula to right ventricle NOT_TRANSLATED +en Coronary cataract HP:0025559 rdfs:label nl Coronair cataract CANDIDATE +en Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries HP:0012436 IAO:0000115 nl Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries NOT_TRANSLATED +en Coronary ostial atresia HP:0031626 rdfs:label nl Coronaire ostiale atresie CANDIDATE +en Coronary sinus atrial septal defect HP:0011643 rdfs:label nl Sinus coronarius atriumseptumdefect CANDIDATE +en Coronary sinus diverticulum HP:0011644 rdfs:label nl Sinus coronarius divertikel CANDIDATE +en Coronary sinus enlargement HP:0031298 rdfs:label nl Sinus coronarius vergroting CANDIDATE +en Coronary-pulmonary artery fistula HP:0025516 rdfs:label nl Coronaire-pulmonale arteriële fistel CANDIDATE +en Corpus callosum atrophy HP:0007371 rdfs:label nl Corpus callosum atrofie CANDIDATE +en Corpus cavernosum hypoplasia HP:4000094 rdfs:label nl Corpus cavernosum hypoplasia NOT_TRANSLATED +en Corpus cavernosum sclerosis HP:0100624 rdfs:label nl Corpus cavernosum sclerose CANDIDATE +en Cortical cataract HP:0100019 rdfs:label nl Corticaal cataract CANDIDATE +en Cortical diaphyseal irregularity of the upper limbs HP:0003858 rdfs:label nl Corticale diafysaire irregulariteit van bovenste ledematen CANDIDATE +en Cortical diaphyseal thickening of the upper limbs HP:0003859 rdfs:label nl Corticale diafysaire verdikking van bovenste ledematen CANDIDATE +en Cortical dysplasia HP:0002539 rdfs:label nl Corticale dysplasie CANDIDATE +en Cortical irregularity HP:0005731 rdfs:label nl Corticale onregelmatigheid CANDIDATE +en Cortical irregularity of humeral diaphysis HP:0003927 rdfs:label nl Corticale irregulariteit van diafyse van de humerus CANDIDATE +en Cortical myoclonus HP:0040148 rdfs:label nl Corticale myoclonus CANDIDATE +en Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic) HP:0040148 IAO:0000115 nl Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic) NOT_TRANSLATED +en Cortical nephrocalcinosis HP:0012409 rdfs:label nl Corticale nefrocalcinose CANDIDATE +en Cortical peritubular capillaritis HP:0033862 rdfs:label nl Cortical peritubular capillaritis NOT_TRANSLATED +en Cortical peritubular capillary intraluminal thrombi HP:0033873 rdfs:label nl Cortical peritubular capillary intraluminal thrombi NOT_TRANSLATED +en Cortical peritubular capillary lumen cholesterol emboli HP:0033872 rdfs:label nl Cortical peritubular capillary lumen cholesterol emboli NOT_TRANSLATED +en Cortical peritubular capillary lumen organized thrombi HP:0033874 rdfs:label nl Cortical peritubular capillary lumen organized thrombi NOT_TRANSLATED +en Cortical pulverulent cataract HP:0007780 rdfs:label nl Corticaal pulverachtige cataract CANDIDATE +en Cortical radial artery endotheliosis HP:0033953 rdfs:label nl Cortical radial artery endotheliosis NOT_TRANSLATED +en Cortical radial artery foam cell hypercellularity HP:0033958 rdfs:label nl Cortical radial artery foam cell hypercellularity NOT_TRANSLATED +en Cortical radial artery hypercellularity HP:0033954 rdfs:label nl Cortical radial artery hypercellularity NOT_TRANSLATED +en Cortical radial artery intima/media arteriosclerosis HP:0033959 rdfs:label nl Cortical radial artery intima/media arteriosclerosis NOT_TRANSLATED +en Cortical radial artery intima/media coagulative necrosis HP:0033937 rdfs:label nl Cortical radial artery intima/media coagulative necrosis NOT_TRANSLATED +en Cortical radial artery intima/media liquefactive necrosis HP:0033936 rdfs:label nl Cortical radial artery intima/media liquefactive necrosis NOT_TRANSLATED +en Cortical radial artery intima/media multilamellation HP:0033961 rdfs:label nl Cortical radial artery intima/media multilamellation NOT_TRANSLATED +en Cortical radial artery intima/media necrosis HP:0033935 rdfs:label nl Cortical radial artery intima/media necrosis NOT_TRANSLATED +en Cortical radial artery intimal mucoid edema HP:0033960 rdfs:label nl Cortical radial artery intimal mucoid edema NOT_TRANSLATED +en Cortical radial artery intimal/medial amyloidosis HP:0033887 rdfs:label nl Cortical radial artery intimal/medial amyloidosis NOT_TRANSLATED +en Cortical radial artery intraluminal organized thrombi HP:0033951 rdfs:label nl Cortical radial artery intraluminal organized thrombi NOT_TRANSLATED +en Cortical radial artery intraluminal thrombi HP:0033950 rdfs:label nl Cortical radial artery intraluminal thrombi NOT_TRANSLATED +en Cortical radial artery leukocyte hypercellularity HP:0033955 rdfs:label nl Cortical radial artery leukocyte hypercellularity NOT_TRANSLATED +en Cortical radial artery lumen cholesterol emboli HP:0033885 rdfs:label nl Cortical radial artery lumen cholesterol emboli NOT_TRANSLATED +en Cortical radial artery lymphocyte hypercellularity HP:0033956 rdfs:label nl Cortical radial artery lymphocyte hypercellularity NOT_TRANSLATED +en Cortical radial artery medial atrophy HP:0033912 rdfs:label nl Cortical radial artery medial atrophy NOT_TRANSLATED +en Cortical radial artery medial hypertrophy HP:0033911 rdfs:label nl Cortical radial artery medial hypertrophy NOT_TRANSLATED +en Cortical radial artery medial/intimal arteriitis HP:0033913 rdfs:label nl Cortical radial artery medial/intimal arteriitis NOT_TRANSLATED +en Cortical radial artery medial/intimal granulomatous arteriitis HP:0033962 rdfs:label nl Cortical radial artery medial/intimal granulomatous arteriitis NOT_TRANSLATED +en Cortical radial artery neutrophil hypercellularity HP:0033957 rdfs:label nl Cortical radial artery neutrophil hypercellularity NOT_TRANSLATED +en Cortical sclerosis HP:0005652 rdfs:label nl Corticale sclerose CANDIDATE +en Cortical sclerosis of the iliac wing HP:0033701 rdfs:label nl Cortical sclerosis of the iliac wing NOT_TRANSLATED +en Cortical subperiosteal resorption of humeral metaphyses HP:0003909 rdfs:label nl Corticale subperiosteale resorptie van metafysen van de humerus CANDIDATE +en Cortical thickening of hand bones HP:0004271 rdfs:label nl Corticale verdikking van hand botten CANDIDATE +en Cortical thickening of humeral diaphysis HP:0003928 rdfs:label nl Corticale verdikking van diafyse van humerus CANDIDATE +en Cortical thickening of long bone diaphyses HP:0005791 rdfs:label nl Corticale verdikking van diafysen van lange beenderen CANDIDATE +en Cortical thickening of the forearm bones HP:0003957 rdfs:label nl Corticale verdikking van de botten van onderarm CANDIDATE +en Cortical thinning of foot bones HP:0025333 rdfs:label nl Corticale verdunning van botten van de voet CANDIDATE +en Cortical thinning of hand bones HP:0004272 rdfs:label nl Corticale verdunning van botten van de hand CANDIDATE +en Cortical tubers HP:0009717 rdfs:label nl Corticale tubers CANDIDATE +en Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients HP:0009717 IAO:0000115 nl Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients NOT_TRANSLATED +en Cortically dense long tubular bones HP:0006415 rdfs:label nl Corticaal dichte lange tubulaire botten CANDIDATE +en Corticospinal tract atrophy HP:0007117 rdfs:label nl Corticospinale baan atrofie CANDIDATE +en Corticospinal tract hypoplasia HP:0007016 rdfs:label nl Corticospinale baan hypoplasie CANDIDATE +en Corticospinal tract pallor HP:0008361 rdfs:label nl Corticospinale baan bleekheid CANDIDATE +en Corticotropin-releasing hormone deficient adrenal insufficiency HP:0011737 rdfs:label nl Corticotropine-releasing-hormoon deficiënte bijnier insufficiëntie CANDIDATE +en Corticotropin-releasing hormone receptor defect HP:0011738 rdfs:label nl Corticotropine-releasing hormoon receptor defect CANDIDATE +en Costal cartilage calcification HP:0006646 rdfs:label nl Calcificatie van het kraakbeen van de ribben CANDIDATE +en Costochondral joint sclerosis HP:0006623 rdfs:label nl Sclerose van costochondraal gewricht CANDIDATE +en Costochondral pain HP:0006649 rdfs:label nl Costochondrale pijn CANDIDATE +en Cotton wool plaques HP:0500028 rdfs:label nl Cotton wool plaques NOT_TRANSLATED +en Cough HP:0012735 rdfs:label nl Hoest CANDIDATE +en Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs HP:0002105 IAO:0000115 nl Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs NOT_TRANSLATED +en Cow milk allergy HP:0100327 rdfs:label nl Koemelkeiwitallergie CANDIDATE +en Coxa magna HP:0003279 rdfs:label nl Coxa magna CANDIDATE +en Coxa valga HP:0002673 rdfs:label nl Coxa valga CANDIDATE +en Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults) HP:0002673 IAO:0000115 nl Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults) NOT_TRANSLATED +en Coxa vara HP:0002812 rdfs:label nl Coxa vara CANDIDATE +en Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees HP:0002812 IAO:0000115 nl Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees NOT_TRANSLATED +en Cracking, fissuring, and peeling of the skin of the lips HP:0040181 IAO:0000115 nl Cracking, fissuring, and peeling of the skin of the lips NOT_TRANSLATED +en Crackles HP:0030830 rdfs:label nl Çrepitaties CANDIDATE +en Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position HP:0030830 IAO:0000115 nl Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position NOT_TRANSLATED +en Crackles that appear any time after the beginning of inspiration and last till the end of inspiration HP:0031998 IAO:0000115 nl Crackles that appear any time after the beginning of inspiration and last till the end of inspiration NOT_TRANSLATED +en Crackles that appear at the beginning of inspiration and end before mid-inspiration HP:0031997 IAO:0000115 nl Crackles that appear at the beginning of inspiration and end before mid-inspiration NOT_TRANSLATED +en Crackles that are heard during the inspiratory phase HP:0031996 IAO:0000115 nl Crackles that are heard during the inspiratory phase NOT_TRANSLATED +en Crackles that occur during expiration HP:0031999 IAO:0000115 nl Crackles that occur during expiration NOT_TRANSLATED +en Cranial asymmetry HP:0000267 rdfs:label nl Craniale asymmetrie CANDIDATE +en Cranial hyperostosis HP:0004437 rdfs:label nl Craniale hyperostose CANDIDATE +en Cranial nerve compression HP:0001293 rdfs:label nl Hersenzenuwcompressie CANDIDATE +en Cranial nerve motor loss HP:0007097 rdfs:label nl Motorische hersenzenuwverlamming CANDIDATE +en Cranial nerve paralysis HP:0006824 rdfs:label nl Hersenzenuwverlamming CANDIDATE +en Craniofacial asymmetry HP:0004484 rdfs:label nl Craniofaciale asymmetrie CANDIDATE +en Craniofacial disproportion HP:0005461 rdfs:label nl Craniofaciale disproportie CANDIDATE +en Craniofacial dysostosis HP:0004439 rdfs:label nl Craniofaciale dysostose CANDIDATE +en Craniofacial dystonia HP:0012179 rdfs:label nl Craniofaciale dystonie CANDIDATE +en Craniofacial hyperostosis HP:0004493 rdfs:label nl Craniofaciale hyperostose CANDIDATE +en Craniofacial osteosclerosis HP:0005464 rdfs:label nl Craniofaciale osteosclerose CANDIDATE +en Craniofacial teratoma HP:0030755 rdfs:label nl Craniofaciaal teratoom CANDIDATE +en Craniopharyngioma HP:0030062 rdfs:label nl Craniofaryngioom CANDIDATE +en Craniorachischisis HP:0030770 rdfs:label nl Craniorachischisis CANDIDATE +en Craniosynostosis HP:0001363 rdfs:label nl Craniosynostose CANDIDATE +en Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified HP:0011324 IAO:0000115 nl Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified NOT_TRANSLATED +en Craniosynostosis of all calvarial sutures HP:0011325 IAO:0000115 nl Craniosynostosis of all calvarial sutures NOT_TRANSLATED +en Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth HP:0001363 IAO:0000115 nl Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth NOT_TRANSLATED +en Cranium bifidum occultum HP:0004423 rdfs:label nl Cranium bifidum occultum CANDIDATE +en Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge HP:0004423 IAO:0000115 nl Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge NOT_TRANSLATED +en Crazy paving pattern HP:0025391 rdfs:label nl Crazy paving pattern NOT_TRANSLATED +en Crescentic glomerulonephritis HP:0008653 rdfs:label nl Crescentische glomerulonefritis CANDIDATE +en Crimped helix HP:0011262 rdfs:label nl Crimped helix NOT_TRANSLATED +en Criss-cross atrioventricular valves HP:0011541 rdfs:label nl Criss-cross atrioventricular valves NOT_TRANSLATED +en Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side HP:0011542 IAO:0000115 nl Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side NOT_TRANSLATED +en Criss-cross atrioventricular valves with superior-inferior ventricles HP:0011542 rdfs:label nl Criss-cross atrioventricular valves with superior-inferior ventricles NOT_TRANSLATED +en Crohn's disease HP:0100280 rdfs:label nl Ziekte van Crohn CANDIDATE +en Cross bite HP:0033792 rdfs:label nl Cross bite NOT_TRANSLATED +en Cross-fusion of the forearm bones HP:0003958 rdfs:label nl Cross-fusie van de onderarm botten CANDIDATE +en Crossed fused renal ectopia HP:0004736 rdfs:label nl Crossed fused renal ectopia NOT_TRANSLATED +en Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis HP:0011541 IAO:0000115 nl Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis NOT_TRANSLATED +en Crouch gait HP:0025682 rdfs:label nl Crouch gait NOT_TRANSLATED +en Crowded carpal bones HP:0006180 rdfs:label nl Overvolle carpale botten CANDIDATE +en Crowded maxillary incisors HP:0006333 rdfs:label nl Overvolle maxillaire snijtanden CANDIDATE +en Crumpled ear HP:0009901 rdfs:label nl Verfrommeld oor CANDIDATE +en Crumpled humerus HP:0003870 rdfs:label nl Verfrommelde humerus CANDIDATE +en Crumpled long bones HP:0006367 rdfs:label nl Verfrommelde lange beenderen CANDIDATE +en Crus of helix connected to antihelix HP:0011256 rdfs:label nl Crus helices verbonden met antihelix CANDIDATE +en Crusting erythematous dermatitis HP:0007473 rdfs:label nl Crusting erythematous dermatitis NOT_TRANSLATED +en Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin HP:0034422 IAO:0000115 nl Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin NOT_TRANSLATED +en Cryofibrinogenemia HP:0034422 rdfs:label nl Cryofibrinogenemia NOT_TRANSLATED +en Cryoglobulinemia HP:0100778 rdfs:label nl Cryoglobulinemie CANDIDATE +en Cryptococcal meningitis HP:0032160 rdfs:label nl Cryptococcal meningitis NOT_TRANSLATED +en Cryptophthalmos HP:0001126 rdfs:label nl Cryptofthalmos CANDIDATE +en Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity HP:0001126 IAO:0000115 nl Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity NOT_TRANSLATED +en Cryptorchidism HP:0000028 rdfs:label nl Cryptorchisme CANDIDATE +en Cryptotia HP:0011252 rdfs:label nl Cryptotie CANDIDATE +en Cryptozoospermia HP:0030974 rdfs:label nl Cryptozoospermie CANDIDATE +en Crystalline corneal dystrophy HP:0007760 rdfs:label nl Kristallijn corneadystrofie CANDIDATE +en Crystalline deposits in the macula HP:0030501 IAO:0000115 nl Crystalline deposits in the macula NOT_TRANSLATED +en Crystalline deposits in the retina HP:0030507 IAO:0000115 nl Crystalline deposits in the retina NOT_TRANSLATED +en Crystalluria HP:0020074 rdfs:label nl Crystalluria NOT_TRANSLATED +en Cubitus valgus HP:0002967 rdfs:label nl Cubitus valgus CANDIDATE +en Cubitus varus HP:0025317 rdfs:label nl Cubitus varus CANDIDATE +en Cuboid-shaped thoracolumbar vertebral bodies HP:0008425 rdfs:label nl Kubusvormige thoracolumbale wervellichamen CANDIDATE +en Cuboid-shaped vertebral bodies HP:0004634 rdfs:label nl Kubusvormige wervellichamen CANDIDATE +en Cuboidal metacarpal HP:0006011 rdfs:label nl Kubusvormige metacarpaal CANDIDATE +en Cupped ear HP:0000378 rdfs:label nl Hol oor CANDIDATE +en Cupped metaphyses of hand bones HP:0004273 rdfs:label nl Cupped metaphyses of hand bones NOT_TRANSLATED +en Cupped metaphyses of the upper limbs HP:0003848 rdfs:label nl Cupped metaphyses of the upper limbs NOT_TRANSLATED +en Cupped radial metaphyses HP:0004016 rdfs:label nl Cupped radial metaphyses NOT_TRANSLATED +en Cupped ribs HP:0000887 rdfs:label nl Holle ribben CANDIDATE +en Cupped ulnar metaphysis HP:0004041 rdfs:label nl Cupped ulnar metaphysis NOT_TRANSLATED +en Curly eyelashes HP:0007665 rdfs:label nl Krullende wimpers CANDIDATE +en Curly hair HP:0002212 rdfs:label nl Gekruld haar CANDIDATE +en Curvature of the shafts of the long bones due to multiple fractures HP:0003023 IAO:0000115 nl Curvature of the shafts of the long bones due to multiple fractures NOT_TRANSLATED +en Curved 1st metacarpal HP:0010029 rdfs:label nl Gebogen 1e metacarpaal CANDIDATE +en Curved 1st metatarsal HP:0010070 rdfs:label nl Gebogen 1e metatarsaal CANDIDATE +en Curved 2nd toe phalanx HP:0010350 rdfs:label nl Gebogen falanx van de 2e teen CANDIDATE +en Curved 3rd toe phalanx HP:0010362 rdfs:label nl Gebogen falanx van de 3e teen CANDIDATE +en Curved 4th toe phalanx HP:0010374 rdfs:label nl Gebogen falanx van de 4e teen CANDIDATE +en Curved 5th toe phalanx HP:0010386 rdfs:label nl Gebogen falanx van de 5e teen CANDIDATE +en Curved appearance of the distal phalanx of the 2nd finger HP:0009560 IAO:0000115 nl Curved appearance of the distal phalanx of the 2nd finger NOT_TRANSLATED +en Curved appearance of the distal phalanx of the 3rd finger HP:0009428 IAO:0000115 nl Curved appearance of the distal phalanx of the 3rd finger NOT_TRANSLATED +en Curved appearance of the distal phalanx of the 4th (ring) finger HP:0009286 IAO:0000115 nl Curved appearance of the distal phalanx of the 4th (ring) finger NOT_TRANSLATED +en Curved appearance of the distal phalanx of the 5th (little) finger HP:0004226 IAO:0000115 nl Curved appearance of the distal phalanx of the 5th (little) finger NOT_TRANSLATED +en Curved appearance of the middle phalanx of the 2nd finger HP:0009571 IAO:0000115 nl Curved appearance of the middle phalanx of the 2nd finger NOT_TRANSLATED +en Curved appearance of the middle phalanx of the 3rd (middle) finger HP:0009432 IAO:0000115 nl Curved appearance of the middle phalanx of the 3rd (middle) finger NOT_TRANSLATED +en Curved appearance of the middle phalanx of the 4th (ring) finger HP:0009287 IAO:0000115 nl Curved appearance of the middle phalanx of the 4th (ring) finger NOT_TRANSLATED +en Curved appearance of the middle phalanx of the 5th finger HP:0009173 IAO:0000115 nl Curved appearance of the middle phalanx of the 5th finger NOT_TRANSLATED +en Curved appearance of the phalanges of the 3rd finger HP:0009442 IAO:0000115 nl Curved appearance of the phalanges of the 3rd finger NOT_TRANSLATED +en Curved appearance of the phalanges of the 4th (ring) finger HP:0009285 IAO:0000115 nl Curved appearance of the phalanges of the 4th (ring) finger NOT_TRANSLATED +en Curved appearance of the proximal phalanx of the 2nd finger HP:0009583 IAO:0000115 nl Curved appearance of the proximal phalanx of the 2nd finger NOT_TRANSLATED +en Curved appearance of the proximal phalanx of the 3rd finger HP:0009452 IAO:0000115 nl Curved appearance of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en Curved appearance of the proximal phalanx of the 5th finger HP:0009229 IAO:0000115 nl Curved appearance of the proximal phalanx of the 5th finger NOT_TRANSLATED +en Curved dental root HP:4000104 rdfs:label nl Curved dental root NOT_TRANSLATED +en Curved distal phalanges of the hand HP:0009838 rdfs:label nl Gebogen distale falangen van de hand CANDIDATE +en Curved distal phalanx of the 2nd finger HP:0009560 rdfs:label nl Gebogen distale falanx van de 2e vinger CANDIDATE +en Curved distal phalanx of the 2nd toe HP:0010416 rdfs:label nl Gebogen distale falanx van de 2e teen CANDIDATE +en Curved distal phalanx of the 3rd finger HP:0009428 rdfs:label nl Gebogen distale falanx van de 3e vinger CANDIDATE +en Curved distal phalanx of the 3rd toe HP:0100449 rdfs:label nl Gebogen distale falanx van de 3e teen CANDIDATE +en Curved distal phalanx of the 4th finger HP:0009286 rdfs:label nl Gebogen distale falanx van de 4e vinger CANDIDATE +en Curved distal phalanx of the 4th toe HP:0100450 rdfs:label nl Gebogen distale falanx van de 4e teen CANDIDATE +en Curved distal phalanx of the 5th finger HP:0004226 rdfs:label nl Gebogen distale falanx van de 5e vinger CANDIDATE +en Curved distal phalanx of the 5th toe HP:0100451 rdfs:label nl Gebogen distale falanx van de 5e teen CANDIDATE +en Curved distal phalanx of the hallux HP:0010079 rdfs:label nl Gebogen distale falanx van de hallux CANDIDATE +en Curved distal phalanx of the thumb HP:0009644 rdfs:label nl Gebogen distale falanx van de duim CANDIDATE +en Curved distal toe phalanx HP:0010188 rdfs:label nl Gebogen distale falanx van teen CANDIDATE +en Curved fingers HP:0004095 rdfs:label nl Gebogen vingers CANDIDATE +en Curved hallux phalanx HP:0010061 rdfs:label nl Gebogen falanx van hallux CANDIDATE +en Curved linear dimple below the lower lip HP:0002055 rdfs:label nl Een afwijking van de onderlip CANDIDATE +en Curved middle phalanges of the hand HP:0009846 rdfs:label nl Gebogen middelste falangen van de hand CANDIDATE +en Curved middle phalanx of the 2nd finger HP:0009571 rdfs:label nl Gebogen middelste falanx van de 2e vinger CANDIDATE +en Curved middle phalanx of the 2nd toe HP:0010407 rdfs:label nl Gebogen middelste falanx van de 2e teen CANDIDATE +en Curved middle phalanx of the 3rd finger HP:0009432 rdfs:label nl Gebogen middelste falanx van de 3e vinger CANDIDATE +en Curved middle phalanx of the 3rd toe HP:0100443 rdfs:label nl Gebogen middelste falanx van de 3e teen CANDIDATE +en Curved middle phalanx of the 4th finger HP:0009287 rdfs:label nl Gebogen middelste falanx van de 4e vinger CANDIDATE +en Curved middle phalanx of the 4th toe HP:0100444 rdfs:label nl Gebogen middelste falanx van de 4e teen CANDIDATE +en Curved middle phalanx of the 5th finger HP:0009173 rdfs:label nl Gebogen middelste falanx van de 5e vinger CANDIDATE +en Curved middle phalanx of the 5th toe HP:0100445 rdfs:label nl Gebogen middelste falanx van de 5e teen CANDIDATE +en Curved middle toe phalanx HP:0010197 rdfs:label nl Gebogen middelste falanx van teen CANDIDATE +en Curved olecranon HP:0004033 rdfs:label nl Gebogen olecranon CANDIDATE +en Curved phalanges of the 2nd finger HP:0009549 rdfs:label nl Gebogen falangen van de 2e vinger CANDIDATE +en Curved phalanges of the 3rd finger HP:0009442 rdfs:label nl Gebogen falangen van de 3e vinger CANDIDATE +en Curved phalanges of the 4th finger HP:0009285 rdfs:label nl Gebogen falangen van de 4e vinger CANDIDATE +en Curved phalanges of the 5th (little) finger HP:0004214 IAO:0000115 nl Curved phalanges of the 5th (little) finger NOT_TRANSLATED +en Curved phalanges of the 5th finger HP:0004214 rdfs:label nl Gebogen falangen van de 5e vinger CANDIDATE +en Curved phalanges of the hand HP:0009770 rdfs:label nl Gebogen falangen van de hand CANDIDATE +en Curved proximal phalanges of the hand HP:0009854 rdfs:label nl Gebogen proximale falangen van de hand CANDIDATE +en Curved proximal phalanx of the 2nd finger HP:0009583 rdfs:label nl Breed proximale falanx van de 2e vinger CANDIDATE +en Curved proximal phalanx of the 2nd toe HP:0010398 rdfs:label nl Breed proximale falanx van de 2e teen CANDIDATE +en Curved proximal phalanx of the 3rd finger HP:0009452 rdfs:label nl Breed proximale falanx van de 3e vinger CANDIDATE +en Curved proximal phalanx of the 3rd toe HP:0100446 rdfs:label nl Breed proximale falanx van de 3e teen CANDIDATE +en Curved proximal phalanx of the 4th finger HP:0009288 rdfs:label nl Breed proximale falanx van de 4e vinger CANDIDATE +en Curved proximal phalanx of the 4th toe HP:0100447 rdfs:label nl Breed proximale falanx van de 4e teen CANDIDATE +en Curved proximal phalanx of the 5th finger HP:0009229 rdfs:label nl Breed proximale falanx van de 5e vinger CANDIDATE +en Curved proximal phalanx of the 5th toe HP:0100448 rdfs:label nl Gebogen proximale falanx van de 5e teen CANDIDATE +en Curved proximal phalanx of the hallux HP:0010088 rdfs:label nl Gebogen proximale falanx van de hallux CANDIDATE +en Curved proximal phalanx of the thumb HP:0009632 rdfs:label nl Gebogen proximale falanx van de duim CANDIDATE +en Curved proximal toe phalanx HP:0010206 rdfs:label nl Gebogen proximale falanx van teen CANDIDATE +en Curved thumb phalanx HP:0009653 rdfs:label nl Gebogen falanx van de duim CANDIDATE +en Curved toe phalanx HP:0010176 rdfs:label nl Gebogen falanx van teen CANDIDATE +en Curvilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003205 rdfs:label nl Kromlijnige intracellulaire accumulatie van autofluorescent lipopigment opslag materiaal CANDIDATE +en Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons HP:0006916 IAO:0000115 nl Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons NOT_TRANSLATED +en Curvilinear pericallosal lipoma HP:0034013 rdfs:label nl Curvilinear pericallosal lipoma NOT_TRANSLATED +en Curvilinear subcortical heterotopia HP:0032395 rdfs:label nl Curvilinear subcortical heterotopia NOT_TRANSLATED +en Curving course of the crus of the helix, approaching or joining the antitragus HP:0011257 IAO:0000115 nl Curving course of the crus of the helix, approaching or joining the antitragus NOT_TRANSLATED +en Cutaneous T-cell lymphoma HP:0012192 rdfs:label nl Cutaan T-cel lymfoom CANDIDATE +en Cutaneous abscess HP:0031292 rdfs:label nl Cutaan abces CANDIDATE +en Cutaneous amyloidosis HP:0012309 rdfs:label nl Cutane amyloidose CANDIDATE +en Cutaneous anergy HP:0002965 rdfs:label nl Cutane anergie CANDIDATE +en Cutaneous angiolipomas HP:0006773 rdfs:label nl Cutane angiolipomen CANDIDATE +en Cutaneous atresia of the external auditory canal HP:0040101 rdfs:label nl Cutane atresie van de externe gehoorgang CANDIDATE +en Cutaneous cyst HP:0025245 rdfs:label nl Cutane cyste CANDIDATE +en Cutaneous finger syndactyly HP:0010554 rdfs:label nl Cutane vinger syndactylie CANDIDATE +en Cutaneous hamartoma HP:0031111 rdfs:label nl Cutaan hamartoom CANDIDATE +en Cutaneous horn HP:0033510 rdfs:label nl Cutaneous horn NOT_TRANSLATED +en Cutaneous leiomyoma HP:0007620 rdfs:label nl Cutaan leiomoyoom CANDIDATE +en Cutaneous leiomyosarcoma HP:0006755 rdfs:label nl Cutaan leiomyosarcoom CANDIDATE +en Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy HP:0007417 IAO:0000115 nl Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy NOT_TRANSLATED +en Cutaneous lichen amyloidosis HP:0032346 rdfs:label nl Cutaneous lichen amyloidosis NOT_TRANSLATED +en Cutaneous macular amyloidosis HP:0032347 rdfs:label nl Cutaneous macular amyloidosis NOT_TRANSLATED +en Cutaneous mastocytosis HP:0200151 rdfs:label nl Cutane mastocytose CANDIDATE +en Cutaneous melanoma HP:0012056 rdfs:label nl Cutaan melanoom CANDIDATE +en Cutaneous myxoma HP:0030428 rdfs:label nl Cutaan myxoom CANDIDATE +en Cutaneous necrosis HP:0033126 rdfs:label nl Cutaneous necrosis NOT_TRANSLATED +en Cutaneous nodular amyloidosis HP:0032348 rdfs:label nl Cutaneous nodular amyloidosis NOT_TRANSLATED +en Cutaneous photosensitivity HP:0000992 rdfs:label nl Cutane fotosensitiviteit CANDIDATE +en Cutaneous sclerotic plaque HP:0031359 rdfs:label nl Cutane sclerotische plaque CANDIDATE +en Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region HP:0010609 IAO:0000115 nl Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region NOT_TRANSLATED +en Cutaneous stenosis of the external auditory canal HP:0040103 rdfs:label nl Cutane stenose van de externe gehoorgang CANDIDATE +en Cutaneous syndactyly HP:0012725 rdfs:label nl Cutane syndactylie CANDIDATE +en Cutaneous syndactyly of toes HP:0010621 rdfs:label nl Cutane syndactylie van tenen CANDIDATE +en Cutaneous wound HP:0032674 rdfs:label nl Cutaneous wound NOT_TRANSLATED +en Cutis gyrata of palms and soles HP:0007469 IAO:0000115 nl Cutis gyrata of palms and soles NOT_TRANSLATED +en Cutis gyrata of scalp HP:0010541 rdfs:label nl Cutis gyrata van de hoofdhuid CANDIDATE +en Cutis laxa HP:0000973 rdfs:label nl Cutis laxa CANDIDATE +en Cutis marmorata HP:0000965 rdfs:label nl Cutis marmorata CANDIDATE +en Cutis marmorata telangiectatica congenita HP:0025107 rdfs:label nl Cutis marmorata telangiectatica congenita CANDIDATE +en Cyanosis HP:0000961 rdfs:label nl Cyanose CANDIDATE +en Cyanotic episode HP:0200048 rdfs:label nl Cyanotische episode CANDIDATE +en Cyclic esotropia HP:0031763 rdfs:label nl Cyclische esotropie CANDIDATE +en Cyclic exotropia HP:0031716 rdfs:label nl Cyclische exotropie CANDIDATE +en Cyclic neutropenia HP:0040289 rdfs:label nl Cyclische neutropenie CANDIDATE +en Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow HP:0410254 IAO:0000115 nl Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow NOT_TRANSLATED +en Cyclic neutropenia in myeloid maturation arrest in bone marrow HP:0410254 rdfs:label nl Cyclic neutropenia in myeloid maturation arrest in bone marrow NOT_TRANSLATED +en Cyclodeviation HP:0025589 rdfs:label nl Cyclodeviatie CANDIDATE +en Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes HP:0025589 IAO:0000115 nl Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes NOT_TRANSLATED +en Cyclophoria HP:0031777 rdfs:label nl Cyclophoria NOT_TRANSLATED +en Cyclopia HP:0009914 rdfs:label nl Cyclopie CANDIDATE +en Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose HP:0009914 IAO:0000115 nl Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose NOT_TRANSLATED +en Cyclotropia HP:0031776 rdfs:label nl Cyclotropia NOT_TRANSLATED +en Cylindroma HP:0031024 rdfs:label nl Cylindroom CANDIDATE +en Cylindruria HP:0012615 rdfs:label nl Cylindrurie CANDIDATE +en Cyst of the ductus choledochus HP:0100890 rdfs:label nl Cyste van de ductus choledochus CANDIDATE +en Cyst of the eyelid HP:0010604 rdfs:label nl Cyste van het ooglid CANDIDATE +en Cyst on the surface of the placenta consisting of amnion and chorion HP:0030720 IAO:0000115 nl Cyst on the surface of the placenta consisting of amnion and chorion NOT_TRANSLATED +en Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis HP:0005206 IAO:0000115 nl Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis NOT_TRANSLATED +en Cystathioninemia HP:0003286 rdfs:label nl Cystathioninemie CANDIDATE +en Cystathioninuria HP:0003153 rdfs:label nl Cystathioninurie CANDIDATE +en Cystic acne HP:0033188 rdfs:label nl Cystic acne NOT_TRANSLATED +en Cystic angiomatosis of bone HP:0002833 rdfs:label nl Cysteuze angiomatose van bot CANDIDATE +en Cystic artery pseudoaneurysm HP:0030170 rdfs:label nl Arteria cystica pseudoaneurysma CANDIDATE +en Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system HP:0032327 IAO:0000115 nl Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system NOT_TRANSLATED +en Cystic hygroma HP:0000476 rdfs:label nl Cystische hygroma CANDIDATE +en Cystic lesions of the pinnae HP:0010723 rdfs:label nl Cysteuze laesies van de pinnae CANDIDATE +en Cystic liver disease HP:0006706 rdfs:label nl Cysteuze leverziekte CANDIDATE +en Cystic medial necrosis HP:0012180 rdfs:label nl Cysteuze mediale necrose CANDIDATE +en Cystic pattern on pulmonary HRCT HP:0025394 rdfs:label nl Cysteus patroon op pulmonale HRCT CANDIDATE +en Cystic renal dysplasia HP:0000800 rdfs:label nl Cysteuze renale dysplasie CANDIDATE +en Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system HP:0100877 IAO:0000115 nl Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system NOT_TRANSLATED +en Cystine crystalluria HP:0033067 rdfs:label nl Cystine crystalluria NOT_TRANSLATED +en Cystinuria HP:0003131 rdfs:label nl Cystinurie CANDIDATE +en Cystocele HP:0100645 rdfs:label nl Cystocele CANDIDATE +en Cystoid macular degeneration HP:0008028 rdfs:label nl Cystoid macula-oedeem CANDIDATE +en Cystoid macular edema HP:0011505 rdfs:label nl Cystoïd macula oedeem CANDIDATE +en Cystoid macular edema (CME) is any type of macular edema that involves cyst formation HP:0011505 IAO:0000115 nl Cystoid macular edema (CME) is any type of macular edema that involves cyst formation NOT_TRANSLATED +en Cysts of microscopic size confined to the cortex of the kidney HP:0004734 IAO:0000115 nl Cysts of microscopic size confined to the cortex of the kidney NOT_TRANSLATED +en Cysts of the cortex of the kidney HP:0000803 IAO:0000115 nl Cysts of the cortex of the kidney NOT_TRANSLATED +en Cytochrome C oxidase-negative muscle fibers HP:0003688 rdfs:label nl Cytochroom-C-oxidase negatieve spiervezels CANDIDATE +en Cytokine storm HP:0033041 rdfs:label nl Cytokine storm NOT_TRANSLATED +en Cytomegalovirus colitis HP:0033431 rdfs:label nl Cytomegalovirus colitis NOT_TRANSLATED +en Cytoplasmic antineutrophil antibody positivity HP:0032230 rdfs:label nl Cytoplasmic antineutrophil antibody positivity NOT_TRANSLATED +en Cytoplasmic projections into the urinary space from the luminal side of the podocyte HP:0033238 IAO:0000115 nl Cytoplasmic projections into the urinary space from the luminal side of the podocyte NOT_TRANSLATED +en D-2-hydroxyglutaric acidemia HP:0040146 rdfs:label nl D-2-hydroxyglutaarzuuracidemie CANDIDATE +en D-2-hydroxyglutaric aciduria HP:0012321 rdfs:label nl D-2-hydroxyglutaarzuuracidurie CANDIDATE +en DIsruption and breaking up of the basement membrane of the tubules of the kidney HP:0005583 IAO:0000115 nl DIsruption and breaking up of the basement membrane of the tubules of the kidney NOT_TRANSLATED +en Dacryocystitis HP:0000620 rdfs:label nl Dacryocystitis CANDIDATE +en Dacryocystocele HP:0030752 rdfs:label nl Dacryocystocele CANDIDATE +en Dacryocytosis HP:0032563 rdfs:label nl Dacryocytosis NOT_TRANSLATED +en Dagger-shaped calcifications in the dental pulp HP:0006302 IAO:0000115 nl Dagger-shaped calcifications in the dental pulp NOT_TRANSLATED +en Dagger-shaped pulp calcifications HP:0006302 rdfs:label nl Dagger-shaped pulp calcifications NOT_TRANSLATED +en Dairy allergy HP:0410327 rdfs:label nl Dairy allergy NOT_TRANSLATED +en Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) HP:0025344 IAO:0000115 nl Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) NOT_TRANSLATED +en Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction HP:0001343 IAO:0000115 nl Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction NOT_TRANSLATED +en Dandy-Walker malformation HP:0001305 rdfs:label nl Dandy-Walker malformatie CANDIDATE +en Darier's sign HP:0025081 rdfs:label nl Teken van Darier CANDIDATE +en Dark choroid HP:0025148 rdfs:label nl Donker choroïd CANDIDATE +en Dark urine HP:0040319 rdfs:label nl Donkere urine CANDIDATE +en Dark yellow urine HP:0040321 rdfs:label nl Donkergele urine CANDIDATE +en Darkening of the area of skin that overlies the shin HP:0034517 IAO:0000115 nl Darkening of the area of skin that overlies the shin NOT_TRANSLATED +en Darwin notch of helix HP:0011260 rdfs:label nl Darwin notch of helix NOT_TRANSLATED +en Darwin tubercle of helix HP:0011261 rdfs:label nl Darwin tubercle of helix NOT_TRANSLATED +en Death at an age of at least 60 years HP:0033765 IAO:0000115 nl Death at an age of at least 60 years NOT_TRANSLATED +en Death between the age of 16 and 40 years HP:0100613 IAO:0000115 nl Death between the age of 16 and 40 years NOT_TRANSLATED +en Death between the age of 40 and 60 years HP:0033764 IAO:0000115 nl Death between the age of 40 and 60 years NOT_TRANSLATED +en Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years) HP:0011421 IAO:0000115 nl Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years) NOT_TRANSLATED +en Death in adolescence HP:0011421 rdfs:label nl Dood in adolescentie CANDIDATE +en Death in adulthood HP:0033763 rdfs:label nl Death in adulthood NOT_TRANSLATED +en Death in childhood HP:0003819 rdfs:label nl Dood in jeugd CANDIDATE +en Death in during childhood, defined here as between the ages of 2 and 10 years HP:0003819 IAO:0000115 nl Death in during childhood, defined here as between the ages of 2 and 10 years NOT_TRANSLATED +en Death in early adulthood HP:0100613 rdfs:label nl Dood in vroege volwassenheid CANDIDATE +en Death in infancy HP:0001522 rdfs:label nl Overleden in zuigelingenperiode CANDIDATE +en Death in late adulthood HP:0033765 rdfs:label nl Death in late adulthood NOT_TRANSLATED +en Death in middle age HP:0033764 rdfs:label nl Death in middle age NOT_TRANSLATED +en Death of a fetus in the uterus HP:0034241 IAO:0000115 nl Death of a fetus in the uterus NOT_TRANSLATED +en Death of cells in the basal ganglia HP:0012128 IAO:0000115 nl Death of cells in the basal ganglia NOT_TRANSLATED +en Death of the fetus in utero after at least 22 weeks of gestation HP:0003826 IAO:0000115 nl Death of the fetus in utero after at least 22 weeks of gestation NOT_TRANSLATED +en Death of tissue in the inner or middle layer of the arcuate artery of the kidney HP:0033931 IAO:0000115 nl Death of tissue in the inner or middle layer of the arcuate artery of the kidney NOT_TRANSLATED +en Death within the first 24 months of life HP:0001522 IAO:0000115 nl Death within the first 24 months of life NOT_TRANSLATED +en Death within the first 28 days of life HP:0003811 IAO:0000115 nl Death within the first 28 days of life NOT_TRANSLATED +en Decerebrate rigidity HP:0025013 rdfs:label nl Decerebrate rigidity NOT_TRANSLATED +en Declarative memory loss HP:0033692 rdfs:label nl Declarative memory loss NOT_TRANSLATED +en Decorticate rigidity HP:0011444 rdfs:label nl Decorticate rigidity NOT_TRANSLATED +en Decrease in high molecular weight von Willebrand factor Multimers HP:0040225 rdfs:label nl Afname van hoog moleculair gewicht van von Willebrand factor multimeren CANDIDATE +en Decrease in mass and density of the metatarsal bones HP:0004699 IAO:0000115 nl Decrease in mass and density of the metatarsal bones NOT_TRANSLATED +en Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine HP:0030273 IAO:0000115 nl Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine NOT_TRANSLATED +en Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate HP:0025109 IAO:0000115 nl Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate NOT_TRANSLATED +en Decrease in width of the nasal tip HP:0011832 IAO:0000115 nl Decrease in width of the nasal tip NOT_TRANSLATED +en Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation HP:0040227 IAO:0000115 nl Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation NOT_TRANSLATED +en Decreased 3-hydroxyacyl-CoA dehydrogenase level HP:0100950 rdfs:label nl Verminderde activiteit van 3-hydroxyacyl-CoA dehydrogenase CANDIDATE +en Decreased Achilles reflex HP:0009072 rdfs:label nl Verminderde Achillespees reflex CANDIDATE +en Decreased Arden ratio of electrooculogram HP:0008179 rdfs:label nl Afwijkende Arden ratio van electro-oculogram CANDIDATE +en Decreased CD25 upregulation upon TCR activation HP:0031270 rdfs:label nl Afgenomen CD25 opregulatie na activatie van TCR CANDIDATE +en Decreased CD4:CD8 ratio HP:0033222 rdfs:label nl Decreased CD4:CD8 ratio NOT_TRANSLATED +en Decreased CD69 upregulation upon TCR activation HP:0031268 rdfs:label nl Afgenomen CD69 opregulatie na activatie van TCR CANDIDATE +en Decreased CSF 5-hydroxyindolacetic acid concentration HP:0025455 rdfs:label nl Verminderd liquor 5-hydroxyindolacetisch zuur CANDIDATE +en Decreased CSF 5-methyltetrahydrofolate concentration HP:0012446 rdfs:label nl Laag liquor 5-methyltetrahydrofolaat CANDIDATE +en Decreased CSF alanine concentration HP:0500234 rdfs:label nl Decreased CSF alanine concentration NOT_TRANSLATED +en Decreased CSF albumin concentration HP:0025458 rdfs:label nl Verminderd liquor albumine CANDIDATE +en Decreased CSF amyloid concentration HP:0030861 rdfs:label nl Verminderd liquor amyloid niveau CANDIDATE +en Decreased CSF arginine concentration HP:0500204 rdfs:label nl Decreased CSF arginine concentration NOT_TRANSLATED +en Decreased CSF biopterin level HP:0040209 rdfs:label nl Verminderd liquor biopterine niveau CANDIDATE +en Decreased CSF erythritol concentration HP:0410056 rdfs:label nl Decreased CSF erythritol concentration NOT_TRANSLATED +en Decreased CSF glutamate concentration HP:0500201 rdfs:label nl Decreased CSF glutamate concentration NOT_TRANSLATED +en Decreased CSF glutamine concentration HP:0500198 rdfs:label nl Decreased CSF glutamine concentration NOT_TRANSLATED +en Decreased CSF glycine concentration HP:0034390 rdfs:label nl Decreased CSF glycine concentration NOT_TRANSLATED +en Decreased CSF histidine concentration HP:0500237 rdfs:label nl Decreased CSF histidine concentration NOT_TRANSLATED +en Decreased CSF homovanillic acid concentration HP:0003785 rdfs:label nl Verlaagd liquor homovanille-zuur CANDIDATE +en Decreased CSF isoleucine concentration HP:0500194 rdfs:label nl Decreased CSF isoleucine concentration NOT_TRANSLATED +en Decreased CSF leucine concentration HP:0500190 rdfs:label nl Decreased CSF leucine concentration NOT_TRANSLATED +en Decreased CSF lysine concentration HP:0500207 rdfs:label nl Decreased CSF lysine concentration NOT_TRANSLATED +en Decreased CSF neopterin level HP:0040205 rdfs:label nl Verminderd liquor neopterine niveau CANDIDATE +en Decreased CSF phenylalanine concentration HP:0500224 rdfs:label nl Decreased CSF phenylalanine concentration NOT_TRANSLATED +en Decreased CSF protein concentration HP:0025457 rdfs:label nl Verminderd liquor totaal eiwit CANDIDATE +en Decreased CSF serine concentration HP:0500228 rdfs:label nl Decreased CSF serine concentration NOT_TRANSLATED +en Decreased CSF threonine concentration HP:0500213 rdfs:label nl Decreased CSF threonine concentration NOT_TRANSLATED +en Decreased CSF tyrosine concentration HP:0500221 rdfs:label nl Decreased CSF tyrosine concentration NOT_TRANSLATED +en Decreased CSF valine concentration HP:0500188 rdfs:label nl Decreased CSF valine concentration NOT_TRANSLATED +en Decreased CSF/serum albumin ratio HP:0030978 rdfs:label nl Afgenomen liquor/serum albumine ratio CANDIDATE +en Decreased DLCO HP:0045051 rdfs:label nl Afgenomen DLCO CANDIDATE +en Decreased FasL-mediated apoptosis HP:4000057 rdfs:label nl Decreased FasL-mediated apoptosis NOT_TRANSLATED +en Decreased HDL cholesterol concentration HP:0003233 rdfs:label nl Verminderde circulerend high-density lipoproteïnen niveaus CANDIDATE +en Decreased HDL2a concentration HP:0032421 rdfs:label nl Decreased HDL2a concentration NOT_TRANSLATED +en Decreased HDL2b concentration HP:0032423 rdfs:label nl Decreased HDL2b concentration NOT_TRANSLATED +en Decreased HDL3a concentration HP:0032429 rdfs:label nl Decreased HDL3a concentration NOT_TRANSLATED +en Decreased HDL3b concentration HP:0032431 rdfs:label nl Decreased HDL3b concentration NOT_TRANSLATED +en Decreased HDL3c concentration HP:0032433 rdfs:label nl Decreased HDL3c concentration NOT_TRANSLATED +en Decreased KCO HP:0033374 rdfs:label nl Decreased KCO NOT_TRANSLATED +en Decreased LDL cholesterol concentration HP:0003563 rdfs:label nl Afgenomen niveau van circulerende low-density lipoproteïnen CANDIDATE +en Decreased O-mannosyl glycans on alpha-dystroglycan HP:0410362 rdfs:label nl Decreased O-mannosyl glycans on alpha-dystroglycan NOT_TRANSLATED +en Decreased QRS voltage HP:0025077 rdfs:label nl Afgenomen QRS voltage CANDIDATE +en Decreased RV/TLC ratio HP:0033773 rdfs:label nl Decreased RV/TLC ratio NOT_TRANSLATED +en Decreased T cell activation HP:0005419 rdfs:label nl Verminderde T-cel activatie CANDIDATE +en Decreased T3/T4 ratio HP:0012560 rdfs:label nl Verlaagde T3/T4 verhouding CANDIDATE +en Decreased VLDL cholesterol concentration HP:0031243 rdfs:label nl Afgenomen circulerende very-low-density-lipoproteïnen niveaus CANDIDATE +en Decreased ability to move the arm away from the midline of the body HP:0033475 IAO:0000115 nl Decreased ability to move the arm away from the midline of the body NOT_TRANSLATED +en Decreased ability to perceive touch HP:0033748 IAO:0000115 nl Decreased ability to perceive touch NOT_TRANSLATED +en Decreased ability to react to a delayed hypersensitivity skin test HP:0002972 IAO:0000115 nl Decreased ability to react to a delayed hypersensitivity skin test NOT_TRANSLATED +en Decreased acid ceramidase activity HP:0034053 rdfs:label nl Decreased acid ceramidase activity NOT_TRANSLATED +en Decreased acid sphingomyelinase activity HP:0034300 rdfs:label nl Decreased acid sphingomyelinase activity NOT_TRANSLATED +en Decreased acrosin in sperm head HP:0031136 rdfs:label nl Decreased acrosin in sperm head NOT_TRANSLATED +en Decreased activity of NADPH oxidase HP:0003206 rdfs:label nl Verminderde activiteit van NADPH oxidase CANDIDATE +en Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa HP:0011858 IAO:0000115 nl Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa NOT_TRANSLATED +en Decreased activity of coagulation factor V HP:0003225 IAO:0000115 nl Decreased activity of coagulation factor V NOT_TRANSLATED +en Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX HP:0001929 IAO:0000115 nl Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX NOT_TRANSLATED +en Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade HP:0004841 IAO:0000115 nl Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade NOT_TRANSLATED +en Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot HP:0008357 IAO:0000115 nl Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot NOT_TRANSLATED +en Decreased activity of complex III of the mitochondrion in the liver HP:0006558 IAO:0000115 nl Decreased activity of complex III of the mitochondrion in the liver NOT_TRANSLATED +en Decreased activity of mitochondrial ATP synthase complex HP:0011925 rdfs:label nl Afgenomen activiteit van mitochondriale ATP synthase complex CANDIDATE +en Decreased activity of mitochondrial complex I HP:0011923 rdfs:label nl Afgenomen activiteit van mitochondriale complex I CANDIDATE +en Decreased activity of mitochondrial complex II HP:0008314 rdfs:label nl Afgenomen activiteit van mitochondriale complex II CANDIDATE +en Decreased activity of mitochondrial complex III HP:0011924 rdfs:label nl Afgenomen activiteit van mitochondriale complex III CANDIDATE +en Decreased activity of mitochondrial complex IV HP:0008347 rdfs:label nl Afgenomen activiteit van mitochondriale complex IV CANDIDATE +en Decreased activity of mitochondrial respiratory chain HP:0008972 rdfs:label nl Afgenomen activiteit van mitochondriale ademhalingsketen CANDIDATE +en Decreased activity of the mitochondrial respiratory chain HP:0008972 IAO:0000115 nl Decreased activity of the mitochondrial respiratory chain NOT_TRANSLATED +en Decreased activity of the pyruvate dehydrogenase complex HP:0002928 rdfs:label nl Verminderde activiteit van het pyruvaat dehydrogenase complex CANDIDATE +en Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces HP:0008330 IAO:0000115 nl Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces NOT_TRANSLATED +en Decreased addition of fucose sugar units to N-linked glycans HP:0012353 IAO:0000115 nl Decreased addition of fucose sugar units to N-linked glycans NOT_TRANSLATED +en Decreased addition of sialic acids to N-linked glycans HP:0012350 IAO:0000115 nl Decreased addition of sialic acids to N-linked glycans NOT_TRANSLATED +en Decreased adenosylcobalamin HP:0003145 rdfs:label nl Verminderd adenosylcobalamine CANDIDATE +en Decreased adiponectin level HP:0030685 rdfs:label nl Afgenomen adiponectine niveau CANDIDATE +en Decreased adipose tissue HP:0040063 rdfs:label nl Verminderd vetweefsel CANDIDATE +en Decreased adipose tissue around neck HP:0005995 rdfs:label nl Afgenomen vetweefsel rond de nek CANDIDATE +en Decreased adipose tissue tocopherol level HP:0032655 rdfs:label nl Decreased adipose tissue tocopherol level NOT_TRANSLATED +en Decreased alkaline phosphatase measured within leukocytes HP:0004852 IAO:0000115 nl Decreased alkaline phosphatase measured within leukocytes NOT_TRANSLATED +en Decreased alveolar volume HP:0033633 rdfs:label nl Decreased alveolar volume NOT_TRANSLATED +en Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea HP:0034272 IAO:0000115 nl Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea NOT_TRANSLATED +en Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging HP:0030632 IAO:0000115 nl Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging NOT_TRANSLATED +en Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging HP:0025159 IAO:0000115 nl Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging NOT_TRANSLATED +en Decreased amount of glutamine in the blood HP:0500147 IAO:0000115 nl Decreased amount of glutamine in the blood NOT_TRANSLATED +en Decreased amount of leucine in the blood HP:0500143 IAO:0000115 nl Decreased amount of leucine in the blood NOT_TRANSLATED +en Decreased amount of pigmentation in the fovea centralis HP:0012643 IAO:0000115 nl Decreased amount of pigmentation in the fovea centralis NOT_TRANSLATED +en Decreased amount of pigmentation in the macula lutea HP:0007988 IAO:0000115 nl Decreased amount of pigmentation in the macula lutea NOT_TRANSLATED +en Decreased amplitude of sensory action potentials HP:0007078 rdfs:label nl Verlaagde amplitude van sensorische actiepotentialen CANDIDATE +en Decreased amyloid beta 42 peptide CSF concentration HP:0025684 rdfs:label nl Decreased amyloid beta 42 peptide CSF concentration NOT_TRANSLATED +en Decreased anterioposterior diameter of lumbar vertebral bodies HP:0005638 rdfs:label nl Verminderde anterioposterieure diameter van lumbale wervellichamen CANDIDATE +en Decreased antimullerian hormone level HP:0031103 rdfs:label nl Afgenomen Anti-Müller-Hormoon niveau CANDIDATE +en Decreased attenuation pattern on pulmonary HRCT HP:0025396 rdfs:label nl Decreased attenuation pattern on pulmonary HRCT NOT_TRANSLATED +en Decreased basophil count HP:0031808 rdfs:label nl Decreased basophil count NOT_TRANSLATED +en Decreased beta-galactosidase activity HP:0008166 rdfs:label nl Verminderde beta-galactosidase activiteit CANDIDATE +en Decreased beta-glucocerebrosidase level HP:0003656 rdfs:label nl Verminderd beta-glucocerebrosidase eiwit en activiteit CANDIDATE +en Decreased beta-mannosidase activity HP:0034367 rdfs:label nl Decreased beta-mannosidase activity NOT_TRANSLATED +en Decreased biotinidase level HP:0410145 rdfs:label nl Decreased biotinidase level NOT_TRANSLATED +en Decreased blood drug concentration HP:0020171 rdfs:label nl Decreased blood drug concentration NOT_TRANSLATED +en Decreased body fat percentage HP:0041079 rdfs:label nl Decreased body fat percentage NOT_TRANSLATED +en Decreased body mass index HP:0045082 rdfs:label nl Afgenomen body mass index CANDIDATE +en Decreased body weight HP:0004325 rdfs:label nl Verminderd lichaamsgewicht CANDIDATE +en Decreased calvarial ossification HP:0005474 rdfs:label nl Verminderde calvariale ossificatie CANDIDATE +en Decreased cardiac index HP:0033531 rdfs:label nl Decreased cardiac index NOT_TRANSLATED +en Decreased cardiac output HP:0033532 rdfs:label nl Decreased cardiac output NOT_TRANSLATED +en Decreased carnitine level in liver HP:0045061 rdfs:label nl Verminderd carnitine niveau in lever CANDIDATE +en Decreased carpal angles of wrist HP:0004049 rdfs:label nl Decreased carpal angles of wrist NOT_TRANSLATED +en Decreased cell membrane concentration of P2Y12 receptor HP:0011882 IAO:0000115 nl Decreased cell membrane concentration of P2Y12 receptor NOT_TRANSLATED +en Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine HP:0031125 IAO:0000115 nl Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine NOT_TRANSLATED +en Decreased cell membrane concentration of glycoprotein IIb-IIIa HP:0001975 IAO:0000115 nl Decreased cell membrane concentration of glycoprotein IIb-IIIa NOT_TRANSLATED +en Decreased cell membrane concentration of glycoprotein VI HP:0011881 IAO:0000115 nl Decreased cell membrane concentration of glycoprotein VI NOT_TRANSLATED +en Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V HP:0011879 IAO:0000115 nl Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V NOT_TRANSLATED +en Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2) HP:0031124 IAO:0000115 nl Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2) NOT_TRANSLATED +en Decreased cervical spine flexion due to contractures of posterior cervical muscles HP:0004631 rdfs:label nl Verminderde cervicale wervelkolomflexie als gevolg van contracturen van de posterieure cervicale spieren CANDIDATE +en Decreased cervical spine mobility HP:0004637 rdfs:label nl Verminderde mobiliteit cervicale wervelkolom CANDIDATE +en Decreased circulating 12-HETE HP:0032575 rdfs:label nl Decreased circulating 12-HETE NOT_TRANSLATED +en Decreased circulating 18-hydroxycortisone level HP:0020199 rdfs:label nl Decreased circulating 18-hydroxycortisone level NOT_TRANSLATED +en Decreased circulating A-type natriuretic peptide level HP:0020184 rdfs:label nl Decreased circulating A-type natriuretic peptide level NOT_TRANSLATED +en Decreased circulating ACTH level HP:0002920 rdfs:label nl Afgenomen circulerend ACTH-niveau CANDIDATE +en Decreased circulating C1-esterase inhibitor concentration HP:0034204 rdfs:label nl Decreased circulating C1-esterase inhibitor concentration NOT_TRANSLATED +en Decreased circulating GABA concentration HP:0410054 rdfs:label nl Decreased circulating GABA concentration NOT_TRANSLATED +en Decreased circulating IgA level HP:0002720 rdfs:label nl IgA-deficiëntie CANDIDATE +en Decreased circulating IgD HP:0410245 rdfs:label nl Decreased circulating IgD NOT_TRANSLATED +en Decreased circulating IgE HP:0005479 rdfs:label nl IgE-deficiëntie CANDIDATE +en Decreased circulating IgG level HP:0004315 rdfs:label nl IgG deficiëntie CANDIDATE +en Decreased circulating IgG subclass level HP:0032135 rdfs:label nl Decreased circulating IgG subclass level NOT_TRANSLATED +en Decreased circulating IgG1 level HP:0032136 rdfs:label nl Decreased circulating IgG1 level NOT_TRANSLATED +en Decreased circulating IgG2 level HP:0008348 rdfs:label nl Immunoglobuline IgG2 deficiëntie CANDIDATE +en Decreased circulating IgG3 level HP:0032137 rdfs:label nl Decreased circulating IgG3 level NOT_TRANSLATED +en Decreased circulating IgG4 level HP:0032138 rdfs:label nl Decreased circulating IgG4 level NOT_TRANSLATED +en Decreased circulating T4 concentration HP:0031507 rdfs:label nl Afgenomen circulerend thyroxine niveau CANDIDATE +en Decreased circulating aldosterone level HP:0004319 rdfs:label nl Verminderd circulerend aldosteron niveau CANDIDATE +en Decreased circulating androgen concentration HP:0030349 rdfs:label nl Verminderd circulerend androgeen niveau CANDIDATE +en Decreased circulating androstenedione concentration HP:0033812 rdfs:label nl Decreased circulating androstenedione concentration NOT_TRANSLATED +en Decreased circulating antibody level HP:0004313 rdfs:label nl Verminderd antistoffen niveau in bloed CANDIDATE +en Decreased circulating apolipoprotein AI concentration HP:0031799 rdfs:label nl Decreased circulating apolipoprotein AI concentration NOT_TRANSLATED +en Decreased circulating apolipoprotein B concentration HP:0034075 rdfs:label nl Decreased circulating apolipoprotein B concentration NOT_TRANSLATED +en Decreased circulating apolipoprotein C-II concentration HP:0033983 rdfs:label nl Decreased circulating apolipoprotein C-II concentration NOT_TRANSLATED +en Decreased circulating apolipoprotein concentration HP:0033459 rdfs:label nl Decreased circulating apolipoprotein concentration NOT_TRANSLATED +en Decreased circulating aspartic acid concentration HP:0034441 rdfs:label nl Decreased circulating aspartic acid concentration NOT_TRANSLATED +en Decreased circulating beta-2-microglobulin level HP:0025347 rdfs:label nl Afgenomen circulerend beta-2-microglobuline niveau CANDIDATE +en Decreased circulating beta-C-terminal telopeptide concentration HP:0031426 rdfs:label nl Afgenomen circulerend beta-C-terminaal telopeptide niveau CANDIDATE +en Decreased circulating calcifediol concentration HP:0012053 rdfs:label nl Laag serum calcifediol CANDIDATE +en Decreased circulating ceruloplasmin concentration HP:0010837 rdfs:label nl Verminderd serum ceruloplasmine CANDIDATE +en Decreased circulating chenodeoxycholic acid concentration HP:0034048 rdfs:label nl Decreased circulating chenodeoxycholic acid concentration NOT_TRANSLATED +en Decreased circulating chylomicron concentration HP:0031242 rdfs:label nl Afgenomen circulerende chylomicronen niveaus CANDIDATE +en Decreased circulating copper concentration HP:0011967 rdfs:label nl Hypocupremie CANDIDATE +en Decreased circulating corticosterone level HP:0032363 rdfs:label nl Decreased circulating corticosterone level NOT_TRANSLATED +en Decreased circulating cortisol level HP:0008163 rdfs:label nl Afgenomen circulerend cortisol niveau CANDIDATE +en Decreased circulating creatine kinase concentration HP:0025659 rdfs:label nl Decreased circulating creatine kinase concentration NOT_TRANSLATED +en Decreased circulating dehydroepiandrosterone concentration HP:0031214 rdfs:label nl Verminderd circulerend dehydroepiandosteron niveau CANDIDATE +en Decreased circulating dehydroepiandrosterone-sulfate concentration HP:0031215 rdfs:label nl Verminderd circulerend dehydroepiandosteron-sulfaat niveau CANDIDATE +en Decreased circulating dihydrotestosterone concentration HP:0033810 rdfs:label nl Decreased circulating dihydrotestosterone concentration NOT_TRANSLATED +en Decreased circulating ferritin concentration HP:0012343 rdfs:label nl Verlaagd serum ferritine CANDIDATE +en Decreased circulating fetuin A concentration HP:0033306 rdfs:label nl Decreased circulating fetuin A concentration NOT_TRANSLATED +en Decreased circulating follicle stimulating hormone concentration HP:0030341 rdfs:label nl Verminderd circulerend follikelstimulerend hormoon niveau CANDIDATE +en Decreased circulating free T3 HP:0032210 rdfs:label nl Decreased circulating free T3 NOT_TRANSLATED +en Decreased circulating free T4 concentration HP:0033078 rdfs:label nl Decreased circulating free T4 concentration NOT_TRANSLATED +en Decreased circulating free fatty acid level HP:0040299 rdfs:label nl Afgenomen circulerend vrije vetzuur niveau CANDIDATE +en Decreased circulating globulin level HP:0032312 rdfs:label nl Decreased circulating globulin level NOT_TRANSLATED +en Decreased circulating glycerol level HP:0031794 rdfs:label nl Decreased circulating glycerol level NOT_TRANSLATED +en Decreased circulating gonadotropin concentration HP:0030339 rdfs:label nl Verminderd circulerend gonadotropine niveau CANDIDATE +en Decreased circulating heparan sulfate level HP:0410343 rdfs:label nl Decreased circulating heparan sulfate level NOT_TRANSLATED +en Decreased circulating hydroxyproline concentration HP:0500140 rdfs:label nl Decreased circulating hydroxyproline concentration NOT_TRANSLATED +en Decreased circulating level of specific antibody HP:0012475 rdfs:label nl Specifieke antistof deficiëntie CANDIDATE +en Decreased circulating lipoprotein lipase concentration HP:0031209 rdfs:label nl Afgenomen lipoproteïne lipase activiteit CANDIDATE +en Decreased circulating luteinizing hormone level HP:0030344 rdfs:label nl Verminderd circulerend niveau van het luteïniserend hormoon CANDIDATE +en Decreased circulating osteocalcin level HP:0031429 rdfs:label nl Afgenomen circulerend osteocalcin niveau CANDIDATE +en Decreased circulating parathyroid hormone level HP:0031817 rdfs:label nl Decreased circulating parathyroid hormone level NOT_TRANSLATED +en Decreased circulating prealbumin concentration HP:0033452 rdfs:label nl Decreased circulating prealbumin concentration NOT_TRANSLATED +en Decreased circulating progesterone HP:0008233 rdfs:label nl Verminderd circulerend progesteron CANDIDATE +en Decreased circulating purine concentration HP:0004369 rdfs:label nl Verlaagde purine niveaus CANDIDATE +en Decreased circulating renin level HP:0003351 rdfs:label nl Verminderd circulerende renine CANDIDATE +en Decreased circulating selenium concentration HP:0033192 rdfs:label nl Decreased circulating selenium concentration NOT_TRANSLATED +en Decreased circulating thyroglobulin concentration HP:6000244 rdfs:label nl Verlaagde circulerende thyroglobulineconcentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Decreased circulating total IgA HP:0003460 rdfs:label nl Totale immunoglobuline A deficiëntie CANDIDATE +en Decreased circulating total IgG HP:0032132 rdfs:label nl Decreased circulating total IgG NOT_TRANSLATED +en Decreased circulating total IgM HP:0002850 rdfs:label nl IgM-deficiëntie CANDIDATE +en Decreased circulation of bilirubin in the blood circulation HP:0033480 IAO:0000115 nl Decreased circulation of bilirubin in the blood circulation NOT_TRANSLATED +en Decreased complex N-glycan level HP:0410353 rdfs:label nl Decreased complex N-glycan level NOT_TRANSLATED +en Decreased compound muscle action potential amplitude HP:0033383 rdfs:label nl Decreased compound muscle action potential amplitude NOT_TRANSLATED +en Decreased concentration of 1-methylhistidine in the urine HP:0410314 IAO:0000115 nl Decreased concentration of 1-methylhistidine in the urine NOT_TRANSLATED +en Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation HP:0034407 IAO:0000115 nl Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation NOT_TRANSLATED +en Decreased concentration of 3-methylhistidine in the urine HP:0410318 IAO:0000115 nl Decreased concentration of 3-methylhistidine in the urine NOT_TRANSLATED +en Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation HP:0034204 IAO:0000115 nl Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation NOT_TRANSLATED +en Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12 HP:0003145 IAO:0000115 nl Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12 NOT_TRANSLATED +en Decreased concentration of biopterin in the cerebrospinal fluid (CSF) HP:0040209 IAO:0000115 nl Decreased concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Decreased concentration of ceruloplasmin in the blood HP:0010837 IAO:0000115 nl Decreased concentration of ceruloplasmin in the blood NOT_TRANSLATED +en Decreased concentration of dopamine in the cerebrospinal fluid (CSF) HP:0012656 IAO:0000115 nl Decreased concentration of dopamine in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production HP:0034443 IAO:0000115 nl Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production NOT_TRANSLATED +en Decreased concentration of fibrinogen in the blood HP:0011900 IAO:0000115 nl Decreased concentration of fibrinogen in the blood NOT_TRANSLATED +en Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine HP:0003785 IAO:0000115 nl Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine NOT_TRANSLATED +en Decreased concentration of lactate in the cerebrospinal fluid HP:0030086 IAO:0000115 nl Decreased concentration of lactate in the cerebrospinal fluid NOT_TRANSLATED +en Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 HP:0003223 IAO:0000115 nl Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12 NOT_TRANSLATED +en Decreased concentration of neopterin in the cerebrospinal fluid (CSF) HP:0040205 IAO:0000115 nl Decreased concentration of neopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Decreased concentration of sulfate in the urine HP:0003359 IAO:0000115 nl Decreased concentration of sulfate in the urine NOT_TRANSLATED +en Decreased concentration of urate in the urine HP:0011935 IAO:0000115 nl Decreased concentration of urate in the urine NOT_TRANSLATED +en Decreased core 1 O-glycan level HP:0410361 rdfs:label nl Decreased core 1 O-glycan level NOT_TRANSLATED +en Decreased corneal reflex HP:0008000 rdfs:label nl Verminderde corneareflex CANDIDATE +en Decreased corneal sensation HP:0012155 rdfs:label nl Verminderde corneale sensatie CANDIDATE +en Decreased corneal thickness HP:0100689 rdfs:label nl Afgenomen corneale dikte CANDIDATE +en Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow HP:0012133 IAO:0000115 nl Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow NOT_TRANSLATED +en Decreased cranial base ossification HP:0005451 rdfs:label nl Verminderde schedelbasis ossificatie CANDIDATE +en Decreased cystatin C level HP:0032997 rdfs:label nl Decreased cystatin C level NOT_TRANSLATED +en Decreased dendritic spine number HP:0034005 rdfs:label nl Decreased dendritic spine number NOT_TRANSLATED +en Decreased density/number and/or decreased diameter of lateral eyebrow hairs HP:0005338 IAO:0000115 nl Decreased density/number and/or decreased diameter of lateral eyebrow hairs NOT_TRANSLATED +en Decreased density/number and/or decreased diameter of medial eyebrow hairs HP:0025325 IAO:0000115 nl Decreased density/number and/or decreased diameter of medial eyebrow hairs NOT_TRANSLATED +en Decreased density/number of eyebrow hairs HP:0045075 IAO:0000115 nl Decreased density/number of eyebrow hairs NOT_TRANSLATED +en Decreased density/number of eyelashes HP:0000653 IAO:0000115 nl Decreased density/number of eyelashes NOT_TRANSLATED +en Decreased diameter of eyebrow hairs HP:0045074 IAO:0000115 nl Decreased diameter of eyebrow hairs NOT_TRANSLATED +en Decreased diastolic blood pressure HP:0500104 rdfs:label nl Decreased diastolic blood pressure NOT_TRANSLATED +en Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) HP:0033374 IAO:0000115 nl Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) NOT_TRANSLATED +en Decreased distal sensory nerve action potential HP:0007230 rdfs:label nl Verminderd actiepotentiaal van distale sensorische zenuw CANDIDATE +en Decreased distance between the attachments of the alae nasi to the face HP:0012809 IAO:0000115 nl Decreased distance between the attachments of the alae nasi to the face NOT_TRANSLATED +en Decreased distance from the nasal tip to the nasal base HP:0000437 IAO:0000115 nl Decreased distance from the nasal tip to the nasal base NOT_TRANSLATED +en Decreased eosinophil count HP:0031891 rdfs:label nl Decreased eosinophil count NOT_TRANSLATED +en Decreased erythrocyte sedimentation rate HP:0025022 rdfs:label nl Afgenomen bezinkingssnelheid van de erytrocyten CANDIDATE +en Decreased esterified to free carnitine ratio HP:0033507 rdfs:label nl Decreased esterified to free carnitine ratio NOT_TRANSLATED +en Decreased expression of GPI-anchored proteins on the cell surface HP:0041048 rdfs:label nl Decreased expression of GPI-anchored proteins on the cell surface NOT_TRANSLATED +en Decreased facial expression HP:0004673 rdfs:label nl Verminderde faciale expressie CANDIDATE +en Decreased fecal pH HP:0032490 rdfs:label nl Decreased fecal pH NOT_TRANSLATED +en Decreased female libido HP:0030018 rdfs:label nl Verminderd vrouwelijk libido CANDIDATE +en Decreased fertility HP:0000144 rdfs:label nl Verminderde vruchtbaarheid CANDIDATE +en Decreased fertility in females HP:0000868 rdfs:label nl Verminderde vruchtbaarheid bij vrouwen CANDIDATE +en Decreased fertility in males HP:0012041 rdfs:label nl Verminderde vruchtbaarheid in mannen CANDIDATE +en Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia) HP:0001989 IAO:0000115 nl Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia) NOT_TRANSLATED +en Decreased fetal movement HP:0001558 rdfs:label nl Verminderde foetale beweging CANDIDATE +en Decreased fibular diameter HP:0031107 rdfs:label nl Afgenomen fibulaire diameter CANDIDATE +en Decreased finger mobility HP:0006135 rdfs:label nl Verminderde vinger mobiliteit CANDIDATE +en Decreased forced expiratory flow 25-75% HP:0032359 rdfs:label nl Decreased forced expiratory flow 25-75% NOT_TRANSLATED +en Decreased fucosylation of N-linked protein glycosylation HP:0012353 rdfs:label nl Verminderde fucosylatie van N-glycosylatie CANDIDATE +en Decreased fucosylation of O-linked protein glycosylation HP:0012360 rdfs:label nl Verminderde fucosylatie van O-glycosylatie CANDIDATE +en Decreased fumarate hydratase activity HP:0003536 rdfs:label nl Verminderde fumaraat hydratase activiteit CANDIDATE +en Decreased functionality of the female gonads, i.e., of the ovary HP:0000134 IAO:0000115 nl Decreased functionality of the female gonads, i.e., of the ovary NOT_TRANSLATED +en Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis HP:0000026 IAO:0000115 nl Verminderde functionaliteit van de mannelijke gonaden (testis) met verminderde spermatogenese en testosteronproductie CANDIDATE +en Decreased galactosylation of N-linked protein glycosylation HP:0012348 rdfs:label nl Verminderde galactosylatie van N-glycosylatie CANDIDATE +en Decreased glomerular filtration rate HP:0012213 rdfs:label nl Afgenomen glomerulaire filtratiesnelheid CANDIDATE +en Decreased glucagon level HP:0030689 rdfs:label nl Afgenomen glucagon niveau CANDIDATE +en Decreased glucose-6-phosphate dehydrogenase level in blood HP:0410179 rdfs:label nl Decreased glucose-6-phosphate dehydrogenase level in blood NOT_TRANSLATED +en Decreased glucose-6-phosphate dehydrogenase level in dried blood spot HP:0410182 rdfs:label nl Decreased glucose-6-phosphate dehydrogenase level in dried blood spot NOT_TRANSLATED +en Decreased glucose-6-phosphate dehydrogenase level in leukocytes HP:0410190 rdfs:label nl Decreased glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED +en Decreased glucose-6-phosphate dehydrogenase level in red blood cells HP:0410188 rdfs:label nl Decreased glucose-6-phosphate dehydrogenase level in red blood cells NOT_TRANSLATED +en Decreased glucose-6-phosphate dehydrogenase level in tissue HP:0410187 rdfs:label nl Decreased glucose-6-phosphate dehydrogenase level in tissue NOT_TRANSLATED +en Decreased glucosephosphate isomerase level HP:0003568 rdfs:label nl Verminderde glucosefosfaat isomerase activiteit CANDIDATE +en Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level HP:0410349 rdfs:label nl Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level NOT_TRANSLATED +en Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio HP:0033527 rdfs:label nl Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio NOT_TRANSLATED +en Decreased growth hormone responses to growth hormone-releasing hormone challenge HP:0033579 rdfs:label nl Decreased growth hormone responses to growth hormone-releasing hormone challenge NOT_TRANSLATED +en Decreased head circumference HP:0040195 rdfs:label nl Verminderde hoofdomtrek CANDIDATE +en Decreased heart rate variability HP:0031861 rdfs:label nl Decreased heart rate variability NOT_TRANSLATED +en Decreased height of the intervertebral disk HP:0002945 IAO:0000115 nl Decreased height of the intervertebral disk NOT_TRANSLATED +en Decreased helper T cell proportion HP:0008165 rdfs:label nl Afgenomen proportie van circulerende T-helpercellen CANDIDATE +en Decreased hemoglobin concentration HP:0020062 rdfs:label nl Decreased hemoglobin concentration NOT_TRANSLATED +en Decreased hepatic echogenicity HP:0031143 rdfs:label nl Afgenomen hepatische echogeniciteit CANDIDATE +en Decreased hepcidin level HP:0031876 rdfs:label nl Decreased hepcidin level NOT_TRANSLATED +en Decreased high-mannose N-glycan level HP:0410358 rdfs:label nl Decreased high-mannose N-glycan level NOT_TRANSLATED +en Decreased hip abduction HP:0003184 rdfs:label nl Verminderde heup abductie CANDIDATE +en Decreased iduronate sulfatase level HP:0034203 rdfs:label nl Decreased iduronate sulfatase level NOT_TRANSLATED +en Decreased immunoglobulin level in body fluid HP:0041078 rdfs:label nl Decreased immunoglobulin level in body fluid NOT_TRANSLATED +en Decreased incisura length HP:0031230 rdfs:label nl Afgenomen incisura lengte CANDIDATE +en Decreased inferosuperior length of the sternum HP:0000879 IAO:0000115 nl Decreased inferosuperior length of the sternum NOT_TRANSLATED +en Decreased inflammatory response HP:0012648 rdfs:label nl Verminderde inflammatoire reactie CANDIDATE +en Decreased inhibin B level HP:0031100 rdfs:label nl Verlaagd inhibine B niveau CANDIDATE +en Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed HP:0009072 IAO:0000115 nl Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed NOT_TRANSLATED +en Decreased intensity of the patellar reflex (also known as the knee jerk reflex) HP:0011808 IAO:0000115 nl Decreased intensity of the patellar reflex (also known as the knee jerk reflex) NOT_TRANSLATED +en Decreased intestinal transit time HP:0030897 rdfs:label nl Verminderde gastro-intestinale doorlooptijd CANDIDATE +en Decreased intracranial pressure HP:0012641 rdfs:label nl Verminderde intracraniële druk CANDIDATE +en Decreased lacrimation HP:0000633 rdfs:label nl Verminderde traanproductie CANDIDATE +en Decreased lecithin cholesterol acyl transferase level HP:0025433 rdfs:label nl Verminderd lecithine-cholesterol-acyltransferase activiteit CANDIDATE +en Decreased left ventricular end-diastolic volume HP:0033756 rdfs:label nl Decreased left ventricular end-diastolic volume NOT_TRANSLATED +en Decreased length and width of the tongue HP:0000171 IAO:0000115 nl Verminderde lengte en breedte van de tong CANDIDATE +en Decreased length of O-fucosylated glycans present on properdin HP:0410344 IAO:0000115 nl Decreased length of O-fucosylated glycans present on properdin NOT_TRANSLATED +en Decreased length of nail HP:0001799 IAO:0000115 nl Decreased length of nail NOT_TRANSLATED +en Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) HP:0012770 IAO:0000115 nl Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) NOT_TRANSLATED +en Decreased length of the eyelashes (subjective) HP:0010764 IAO:0000115 nl Decreased length of the eyelashes (subjective) NOT_TRANSLATED +en Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals HP:0001248 IAO:0000115 nl Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals NOT_TRANSLATED +en Decreased length of the umbilical cord HP:0001196 IAO:0000115 nl Decreased length of the umbilical cord NOT_TRANSLATED +en Decreased length of the uvula HP:0010812 IAO:0000115 nl Decreased length of the uvula NOT_TRANSLATED +en Decreased level of 1,5 anhydroglucitol in serum HP:0410050 rdfs:label nl Decreased level of 1,5 anhydroglucitol in serum NOT_TRANSLATED +en Decreased level of D-mannose in urine HP:0410060 rdfs:label nl Decreased level of D-mannose in urine NOT_TRANSLATED +en Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism HP:0003533 IAO:0000115 nl Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism NOT_TRANSLATED +en Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands HP:0410289 IAO:0000115 nl Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands NOT_TRANSLATED +en Decreased level of carnosine in blood HP:0500162 rdfs:label nl Decreased level of carnosine in blood NOT_TRANSLATED +en Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide HP:0031837 IAO:0000115 nl Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide NOT_TRANSLATED +en Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation HP:0033299 IAO:0000115 nl Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation NOT_TRANSLATED +en Decreased level of coenzyme Q10 in skeletal muscle HP:0034369 rdfs:label nl Decreased level of coenzyme Q10 in skeletal muscle NOT_TRANSLATED +en Decreased level of erythritol in urine HP:0410055 rdfs:label nl Decreased level of erythritol in urine NOT_TRANSLATED +en Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond HP:0033160 IAO:0000115 nl Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond NOT_TRANSLATED +en Decreased level of heparin co-factor II HP:0040226 rdfs:label nl Verminderd niveau van heparine co-factor II CANDIDATE +en Decreased level of histidine-rich glycoprotein HP:0040227 rdfs:label nl Verminderd niveau van histidine-rijke glycoproteïne CANDIDATE +en Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond HP:0033159 IAO:0000115 nl Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond NOT_TRANSLATED +en Decreased level of plasminogen HP:0040228 rdfs:label nl Verminderd niveau van plasminogeen CANDIDATE +en Decreased level of platelet-activating factor HP:0040179 rdfs:label nl Verminderd niveau van platelet-activating factor CANDIDATE +en Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues HP:0034445 IAO:0000115 nl Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues NOT_TRANSLATED +en Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate HP:0040142 IAO:0000115 nl Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate NOT_TRANSLATED +en Decreased level of thrombomodulin HP:0040229 rdfs:label nl Verminderd niveau van trombomoduline CANDIDATE +en Decreased level of tissue plasminogen activator HP:0040230 rdfs:label nl Verminderd niveau van weefselplasminogeenactivator CANDIDATE +en Decreased levels of alpha-fetoprotein HP:0045057 rdfs:label nl Afgenomen niveaus van alfafoetoproteïne CANDIDATE +en Decreased levels of immunoglobulin A (IgA) HP:0002720 IAO:0000115 nl Decreased levels of immunoglobulin A (IgA) NOT_TRANSLATED +en Decreased libido HP:0046504 rdfs:label nl Decreased libido NOT_TRANSLATED +en Decreased light- and dark-adapted electroretinogram amplitude HP:0000654 rdfs:label nl Verminderde licht- en donker-aangepaste elektroretinogram aplitude CANDIDATE +en Decreased liver function HP:0001410 rdfs:label nl Verminderde leverfunctie CANDIDATE +en Decreased low-density lipoprotein particle size HP:0032193 rdfs:label nl Decreased low-density lipoprotein particle size NOT_TRANSLATED +en Decreased lymphocyte apoptosis HP:0002731 rdfs:label nl Verminderde lymfocytaire apoptose CANDIDATE +en Decreased lymphocyte count during infections HP:4000034 IAO:0000115 nl Decreased lymphocyte count during infections NOT_TRANSLATED +en Decreased lymphocyte proliferation in response to anti-CD3 HP:0031382 rdfs:label nl Verminderde proliferatie van lymfocyten als reactie op anti-CD3 CANDIDATE +en Decreased lymphocyte proliferation in response to mitogen HP:0031381 rdfs:label nl Verminderde proliferatie van lymfocyten als reactie op mitogeen CANDIDATE +en Decreased male libido HP:0040306 rdfs:label nl Afgenomen mannelijk libido CANDIDATE +en Decreased mannose-binding protein level HP:0032305 rdfs:label nl Decreased mannose-binding protein level NOT_TRANSLATED +en Decreased mannosylation of N-linked protein glycosylation HP:0012356 rdfs:label nl Verminderde mannosylatie van N-glycosylatie CANDIDATE +en Decreased maximal oxygen uptake HP:0033760 rdfs:label nl Decreased maximal oxygen uptake NOT_TRANSLATED +en Decreased mean corpuscular hemoglobin concentration HP:0025547 rdfs:label nl Afgenomen MCH CANDIDATE +en Decreased mean corpuscular volume HP:0025066 rdfs:label nl Afgenomen MPV CANDIDATE +en Decreased mean platelet volume HP:0005537 rdfs:label nl Verminderd MPV CANDIDATE +en Decreased methionine synthase activity HP:0003524 rdfs:label nl Verminderde methionine synthase activiteit CANDIDATE +en Decreased methylcobalamin HP:0003223 rdfs:label nl Verminderd methylcobalamine CANDIDATE +en Decreased methylmalonyl-CoA mutase activity HP:0003210 rdfs:label nl Verminderde methylmalonyl-CoA mutase activiteit CANDIDATE +en Decreased mid-arm muscle circumference HP:0033449 rdfs:label nl Decreased mid-arm muscle circumference NOT_TRANSLATED +en Decreased middle cerebral artery pulsatility index HP:0041095 rdfs:label nl Decreased middle cerebral artery pulsatility index NOT_TRANSLATED +en Decreased miniature endplate potentials HP:0003402 rdfs:label nl Verlaagde miniatuur eindplaat potentialen CANDIDATE +en Decreased mitochondrial complex III activity in liver tissue HP:0006558 rdfs:label nl Verminderde mitochondriaal complex III activiteit in leverweefsel CANDIDATE +en Decreased mitochondrial number HP:0040013 rdfs:label nl Verminderd aantal mitochondriën CANDIDATE +en Decreased mobility 3rd-5th fingers HP:0006169 rdfs:label nl Verminderde mobiliteit 3e-5e vingers CANDIDATE +en Decreased monosialylated core 1 O-glycan level HP:0410364 rdfs:label nl Decreased monosialylated core 1 O-glycan level NOT_TRANSLATED +en Decreased motor nerve conduction velocity HP:0003431 rdfs:label nl Verminderde motorische zenuw geleidingssnelheid CANDIDATE +en Decreased movement range in interphalangeal joints HP:0006203 rdfs:label nl Verminderd bewegingsbereik in interfalangeale gewrichten CANDIDATE +en Decreased mucosal sucrase-isomaltase activity HP:0033597 rdfs:label nl Decreased mucosal sucrase-isomaltase activity NOT_TRANSLATED +en Decreased muscle glycogen content HP:0012270 rdfs:label nl Afgenomen spier glycogeen inhoud CANDIDATE +en Decreased muscle mass HP:0003199 rdfs:label nl Verminderde spiermassa CANDIDATE +en Decreased nasal nitric oxide HP:0033036 rdfs:label nl Decreased nasal nitric oxide NOT_TRANSLATED +en Decreased nerve conduction velocity HP:0000762 rdfs:label nl Verminderde zenuwgeleidingssnelheid CANDIDATE +en Decreased number of granulocyte precursors in the bone marrow HP:0012139 IAO:0000115 nl Decreased number of granulocyte precursors in the bone marrow NOT_TRANSLATED +en Decreased number of hairs per unit area of skin of the scalp HP:0002209 IAO:0000115 nl Decreased number of hairs per unit area of skin of the scalp NOT_TRANSLATED +en Decreased number of head hairs per unit area on the anterior region of the scalp HP:0004768 IAO:0000115 nl Decreased number of head hairs per unit area on the anterior region of the scalp NOT_TRANSLATED +en Decreased number of large peripheral myelinated nerve fibers HP:0003387 rdfs:label nl Verminderd aantal van grote perifere gemyeliniseerde zenuwvezels CANDIDATE +en Decreased number of osteoclasts in bone tissue HP:0030328 IAO:0000115 nl Decreased number of osteoclasts in bone tissue NOT_TRANSLATED +en Decreased number of peripheral myelinated nerve fibers HP:0003380 rdfs:label nl Verminderd aantal van perifeer gemyeliniseerde zenuwvezels CANDIDATE +en Decreased number of platelet dense granules, a type of platelet organelle HP:0033535 IAO:0000115 nl Decreased number of platelet dense granules, a type of platelet organelle NOT_TRANSLATED +en Decreased number of small peripheral myelinated nerve fibers HP:0007249 rdfs:label nl Verminderd aantal kleine perifere gemyeliniseerde zenuwvezels CANDIDATE +en Decreased number of sternal ossification centers HP:0006611 rdfs:label nl Verminderd aantal centra van sternale ossificatie CANDIDATE +en Decreased number of sweat glands HP:0007500 rdfs:label nl Verminderd aantal zweetklieren CANDIDATE +en Decreased number of vertebrae HP:0030305 rdfs:label nl Afgenomen aantal wervels CANDIDATE +en Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum HP:0012858 IAO:0000115 nl Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum NOT_TRANSLATED +en Decreased numbers of nephrons HP:0005563 rdfs:label nl Verminderd aantal nefronen CANDIDATE +en Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD) HP:0040196 IAO:0000115 nl Verminderde occipito-frontale (hoofd) circumferentie (OFC). Voor microcefalie moet de OFC tussen -3 SD en -2 SD zijn vergeleken met geschikte, leeftijd gecorrigeerde, normaalwaarden (m.a.w. -3 SD &lft;= OFC &lft; -2 SD) CANDIDATE +en Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth HP:0031912 IAO:0000115 nl Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth NOT_TRANSLATED +en Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific HP:0005419 IAO:0000115 nl Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific NOT_TRANSLATED +en Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR) HP:0031270 IAO:0000115 nl Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR) NOT_TRANSLATED +en Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set HP:0008477 IAO:0000115 nl Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set NOT_TRANSLATED +en Decreased ossification of the vertebral bodies HP:0100856 IAO:0000115 nl Decreased ossification of the vertebral bodies NOT_TRANSLATED +en Decreased osteoclast count HP:0030328 rdfs:label nl Afgenomen aantal van osteoclasten CANDIDATE +en Decreased palmar creases HP:0006184 rdfs:label nl Verminderde handlijnen CANDIDATE +en Decreased patellar reflex HP:0011808 rdfs:label nl Verminderde patellaire reflex CANDIDATE +en Decreased peak expiratory flow HP:0032355 rdfs:label nl Decreased peak expiratory flow NOT_TRANSLATED +en Decreased phosphoribosylpyrophosphate synthetase level HP:0032460 rdfs:label nl Decreased phosphoribosylpyrophosphate synthetase level NOT_TRANSLATED +en Decreased phytanic acid:pristanic acid ratio HP:0034450 rdfs:label nl Decreased phytanic acid:pristanic acid ratio NOT_TRANSLATED +en Decreased pineal volume HP:0012685 rdfs:label nl Verminderd epifyse volume CANDIDATE +en Decreased pituitary glycoprotein hormone alpha subunit level HP:0032482 rdfs:label nl Decreased pituitary glycoprotein hormone alpha subunit level NOT_TRANSLATED +en Decreased plasma carnitine HP:0003234 rdfs:label nl Verminderd plasma carnitine CANDIDATE +en Decreased plasma free carnitine HP:0008315 rdfs:label nl Verminderd plasma vrij carnitine CANDIDATE +en Decreased plasma total carnitine HP:0011936 rdfs:label nl Verminderd plasma totaal carnitine CANDIDATE +en Decreased platelet P2Y12 receptor HP:0011882 rdfs:label nl Verminderd bloedplaatje P2Y12 receptor CANDIDATE +en Decreased platelet alpha-2A-adrenergic receptor HP:0031125 rdfs:label nl Verminderde bloedplaatje alfa-2A-adrenerge receptor CANDIDATE +en Decreased platelet cell membrane concentration of glycoprotein Ib HP:0031156 IAO:0000115 nl Decreased platelet cell membrane concentration of glycoprotein Ib NOT_TRANSLATED +en Decreased platelet glycoprotein IIb-IIIa HP:0001975 rdfs:label nl Verminderde bloedplaatje glycoproteïne IIb-IIIa CANDIDATE +en Decreased platelet glycoprotein Ib HP:0031156 rdfs:label nl Verminderde bloedplaatje glycoproteïne Ib CANDIDATE +en Decreased platelet glycoprotein Ib-IX-V HP:0011879 rdfs:label nl Verminderde bloedplaatje glycoproteïne Ib-IX-V CANDIDATE +en Decreased platelet glycoprotein VI HP:0011881 rdfs:label nl Verminderde bloedplaatje glycoproteïne VI CANDIDATE +en Decreased platelet thromboxane A2 receptor HP:0031124 rdfs:label nl Verminderde bloedplaatje tromboxaan A2 receptor CANDIDATE +en Decreased post-bronchodilator forced expiratory flow 25-75% HP:0032361 rdfs:label nl Decreased post-bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED +en Decreased post-bronchodilator forced expiratory volume in one second HP:0032358 rdfs:label nl Decreased post-bronchodilator forced expiratory volume in one second NOT_TRANSLATED +en Decreased post-bronchodilator forced vital capacity HP:0032357 rdfs:label nl Decreased post-bronchodilator forced vital capacity NOT_TRANSLATED +en Decreased posterolateral protrusion of the tragus HP:0011272 IAO:0000115 nl Decreased posterolateral protrusion of the tragus NOT_TRANSLATED +en Decreased pre-bronchodilator forced expiratory flow 25-75% HP:0032360 rdfs:label nl Decreased pre-bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED +en Decreased pre-bronchodilator forced vital capacity HP:0032356 rdfs:label nl Decreased pre-bronchodilator forced vital capacity NOT_TRANSLATED +en Decreased prealbumin level HP:0031085 rdfs:label nl Verlaagd prealbumine niveau CANDIDATE +en Decreased proportion of CD3-positive T cells HP:0045080 rdfs:label nl Afgenomen aantal van CD3-positieve T-cellen CANDIDATE +en Decreased proportion of CD4+CD25+ regulatory T cells HP:0020113 rdfs:label nl Decreased proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED +en Decreased proportion of CD4-positive T cells HP:0032218 rdfs:label nl Decreased proportion of CD4-positive T cells NOT_TRANSLATED +en Decreased proportion of CD4-positive helper T cells HP:0005407 rdfs:label nl Afgenomen aantal van CD4-positieve T-cellen CANDIDATE +en Decreased proportion of CD4-positive, alpha-beta memory T cells HP:0410386 rdfs:label nl Decreased proportion of CD4-positive, alpha-beta memory T cells NOT_TRANSLATED +en Decreased proportion of CD8-positive T cells HP:0005415 rdfs:label nl Afgenomen aantal van CD8-positieve T-cellen CANDIDATE +en Decreased proportion of CD8-positive, alpha-beta TEMRA T cells HP:0500266 rdfs:label nl Decreased proportion of CD8-positive, alpha-beta TEMRA T cells NOT_TRANSLATED +en Decreased proportion of CD8-positive, alpha-beta memory T cells HP:0410385 rdfs:label nl Decreased proportion of CD8-positive, alpha-beta memory T cells NOT_TRANSLATED +en Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high HP:0410385 IAO:0000115 nl Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED +en Decreased proportion of central memory CD4-positive, alpha-beta T cells HP:0410388 rdfs:label nl Decreased proportion of central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED +en Decreased proportion of central memory CD8-positive, alpha-beta T cells HP:0410389 rdfs:label nl Decreased proportion of central memory CD8-positive, alpha-beta T cells NOT_TRANSLATED +en Decreased proportion of class-switched memory B cells HP:0030388 rdfs:label nl Afgenomen proportie van class-switched geheugen B-cellen CANDIDATE +en Decreased proportion of effector memory CD8-positive, alpha-beta T cells HP:0410390 rdfs:label nl Decreased proportion of effector memory CD8-positive, alpha-beta T cells NOT_TRANSLATED +en Decreased proportion of gamma-delta T cells HP:0500271 rdfs:label nl Decreased proportion of gamma-delta T cells NOT_TRANSLATED +en Decreased proportion of gamma-delta T cells relative to the total number of T cells HP:0500271 IAO:0000115 nl Decreased proportion of gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED +en Decreased proportion of immature B cells HP:0030378 rdfs:label nl Afgenomen proportie van onrijpe B-cellen CANDIDATE +en Decreased proportion of immature gamma-delta T cells HP:0500274 rdfs:label nl Decreased proportion of immature gamma-delta T cells NOT_TRANSLATED +en Decreased proportion of immature gamma-delta T cells relative to the total number of T cells HP:0500274 IAO:0000115 nl Decreased proportion of immature gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED +en Decreased proportion of marginal zone B cells HP:0030384 rdfs:label nl Afgenomen proportie van marginale zone B-cellen CANDIDATE +en Decreased proportion of memory B cells HP:0030374 rdfs:label nl Afgenomen proportie van B-geheugencellen CANDIDATE +en Decreased proportion of memory T cells HP:0032183 rdfs:label nl Decreased proportion of memory T cells NOT_TRANSLATED +en Decreased proportion of naive B cells HP:0030372 rdfs:label nl Afgenomen proportie van naïeve B cellen CANDIDATE +en Decreased proportion of naive CD4 T cells HP:0410378 rdfs:label nl Decreased proportion of naive CD4 T cells NOT_TRANSLATED +en Decreased proportion of naive CD8 T cells HP:0410377 rdfs:label nl Decreased proportion of naive CD8 T cells NOT_TRANSLATED +en Decreased proportion of naive T cells HP:0031397 rdfs:label nl Afgenomen proportie van naïeve T-cellen CANDIDATE +en Decreased proportion of plasmablasts HP:0032129 rdfs:label nl Decreased proportion of plasmablasts NOT_TRANSLATED +en Decreased proportion of transitional B cells HP:0030380 rdfs:label nl Afgenomen proportie van transitionele B-cellen CANDIDATE +en Decreased proportion of unswitched memory B cells HP:0032126 rdfs:label nl Decreased proportion of unswitched memory B cells NOT_TRANSLATED +en Decreased prothrombin time HP:0032198 rdfs:label nl Decreased prothrombin time NOT_TRANSLATED +en Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix HP:0011242 IAO:0000115 nl Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix NOT_TRANSLATED +en Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem HP:0011239 IAO:0000115 nl Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem NOT_TRANSLATED +en Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem HP:0011246 IAO:0000115 nl Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem NOT_TRANSLATED +en Decreased pulmonary fissure count HP:0032995 rdfs:label nl Decreased pulmonary fissure count NOT_TRANSLATED +en Decreased pyruvate carboxylase activity HP:0003209 rdfs:label nl Verminderde pyruvaat carboxylase activiteit CANDIDATE +en Decreased quantity of von Willebrand factor HP:0012147 IAO:0000115 nl Decreased quantity of von Willebrand factor NOT_TRANSLATED +en Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces HP:0012146 IAO:0000115 nl Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces NOT_TRANSLATED +en Decreased range of right ventricular motion in a portion of the right ventricle of the heart HP:0034330 IAO:0000115 nl Decreased range of right ventricular motion in a portion of the right ventricle of the heart NOT_TRANSLATED +en Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present HP:0012773 IAO:0000115 nl Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present NOT_TRANSLATED +en Decreased red blood cell count HP:0020060 rdfs:label nl Decreased red blood cell count NOT_TRANSLATED +en Decreased renal parenchymal thickness HP:0025327 rdfs:label nl Afgenomen renale parenchymale dikte CANDIDATE +en Decreased renal tubular phosphate excretion HP:0005572 rdfs:label nl Verminderde renale tubulaire fosfaat excretie CANDIDATE +en Decreased renal tubular reabsorption of bicarbonate HP:4000010 IAO:0000115 nl Decreased renal tubular reabsorption of bicarbonate NOT_TRANSLATED +en Decreased renal tubular reabsorption of magnesium HP:0033759 IAO:0000115 nl Decreased renal tubular reabsorption of magnesium NOT_TRANSLATED +en Decreased renal tubular reabsorption of uric acid HP:0033774 IAO:0000115 nl Decreased renal tubular reabsorption of uric acid NOT_TRANSLATED +en Decreased response to a drug intervention in comparison to the expected response HP:0020173 IAO:0000115 nl Decreased response to a drug intervention in comparison to the expected response NOT_TRANSLATED +en Decreased response to growth hormone stimulation test HP:0000824 rdfs:label nl Groeihormoon gebrek CANDIDATE +en Decreased resting energy expenditure HP:0012340 rdfs:label nl Verlaagd energieverbruik in rust CANDIDATE +en Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina HP:0008043 IAO:0000115 nl Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina NOT_TRANSLATED +en Decreased retinol-binding protein level HP:0031032 rdfs:label nl Afgenomen retinol-bindend eiwit niveau CANDIDATE +en Decreased salivary cortisol level HP:0033014 rdfs:label nl Decreased salivary cortisol level NOT_TRANSLATED +en Decreased scrotal rugation HP:0012858 rdfs:label nl Decreased scrotal rugation NOT_TRANSLATED +en Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus HP:0012287 IAO:0000115 nl Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus NOT_TRANSLATED +en Decreased seeking of relationships HP:5200320 rdfs:label nl Verminderd zoeken van relaties OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Decreased sensitivity to hypoxemia HP:0005947 rdfs:label nl Verminderde sensitiviteit voor hypoxemie CANDIDATE +en Decreased sensitivity toward insulin HP:0008189 IAO:0000115 nl Decreased sensitivity toward insulin NOT_TRANSLATED +en Decreased sensory nerve conduction velocity HP:0003448 rdfs:label nl Verminderde sensorische zenuw geleidingssnelheid CANDIDATE +en Decreased serum anion gap HP:0031963 rdfs:label nl Decreased serum anion gap NOT_TRANSLATED +en Decreased serum bicarbonate concentration HP:0032066 rdfs:label nl Decreased serum bicarbonate concentration NOT_TRANSLATED +en Decreased serum bile acid concentration HP:0030985 rdfs:label nl Afgenomen serum gal concentratie CANDIDATE +en Decreased serum complement C3 HP:0005421 rdfs:label nl Verminderd serum complement C3 CANDIDATE +en Decreased serum complement C4 HP:0045042 rdfs:label nl Verminderd serum complement C4 CANDIDATE +en Decreased serum complement C4a HP:0045043 rdfs:label nl Verminderd serum complement C4a CANDIDATE +en Decreased serum complement C4b HP:0045044 rdfs:label nl Verminderd serum complement C4b CANDIDATE +en Decreased serum complement C5 HP:0033060 rdfs:label nl Decreased serum complement C5 NOT_TRANSLATED +en Decreased serum complement C6 HP:0033059 rdfs:label nl Decreased serum complement C6 NOT_TRANSLATED +en Decreased serum complement C7 HP:0033058 rdfs:label nl Decreased serum complement C7 NOT_TRANSLATED +en Decreased serum complement C8 HP:0004434 rdfs:label nl C8 deficiëntie CANDIDATE +en Decreased serum complement C9 HP:0012308 rdfs:label nl Verminderd serum complement C9 CANDIDATE +en Decreased serum complement factor B HP:0005416 rdfs:label nl Verminderd serum complement factor B CANDIDATE +en Decreased serum complement factor H HP:0005369 rdfs:label nl Verminderd serum complement factor H CANDIDATE +en Decreased serum complement factor I HP:0005356 rdfs:label nl Verminderd serum complement factor I CANDIDATE +en Decreased serum creatinine HP:0012101 rdfs:label nl Verlaagd serum creatinine CANDIDATE +en Decreased serum estradiol HP:0008214 rdfs:label nl Verminderd serum estradiol CANDIDATE +en Decreased serum estriol HP:0025137 rdfs:label nl Verminderd serum estriol CANDIDATE +en Decreased serum estrone HP:0025140 rdfs:label nl Verminderd serum estron CANDIDATE +en Decreased serum insulin-like growth factor 1 HP:0030353 rdfs:label nl Afgenomen serum insulin-like growth factor 1 CANDIDATE +en Decreased serum iron HP:0040303 rdfs:label nl Verminderd serum ijzer CANDIDATE +en Decreased serum leptin HP:0003292 rdfs:label nl Verlaagd serum leptine CANDIDATE +en Decreased serum terminal complement component HP:0033057 rdfs:label nl Decreased serum terminal complement component NOT_TRANSLATED +en Decreased serum testosterone concentration HP:0040171 rdfs:label nl Verminderd serum testosteron niveau CANDIDATE +en Decreased serum thromboxane B2 HP:0032244 rdfs:label nl Decreased serum thromboxane B2 NOT_TRANSLATED +en Decreased serum zinc HP:0031831 rdfs:label nl Decreased serum zinc NOT_TRANSLATED +en Decreased sexual desire HP:0046504 IAO:0000115 nl Decreased sexual desire NOT_TRANSLATED +en Decreased sharing of interests with others HP:4000084 IAO:0000115 nl Decreased sharing of interests with others NOT_TRANSLATED +en Decreased sialylated N-glycan level HP:0410355 rdfs:label nl Decreased sialylated N-glycan level NOT_TRANSLATED +en Decreased sialylation of N-linked protein glycosylation HP:0012350 rdfs:label nl Verminderde sialysatie van N-glycosylatie CANDIDATE +en Decreased sialylation of O-linked protein glycosylation HP:0012363 rdfs:label nl Verminderde sialysatie van O-glycosylatie CANDIDATE +en Decreased size of nasopharyngeal adenoids HP:0040260 rdfs:label nl Afgenomen grootte van nasofaryngeale adenoïden CANDIDATE +en Decreased size of nerve terminals HP:0003443 rdfs:label nl Verminderde grootte van zenuwuiteinden CANDIDATE +en Decreased size of the basal ganglia HP:0012697 IAO:0000115 nl Decreased size of the basal ganglia NOT_TRANSLATED +en Decreased size of the clitoris HP:0040254 rdfs:label nl Afgenomen grootte van de clitoris CANDIDATE +en Decreased size of the head of sperm HP:0032561 IAO:0000115 nl Decreased size of the head of sperm NOT_TRANSLATED +en Decreased size of the maxillary permanent incisor HP:0001593 IAO:0000115 nl Decreased size of the maxillary permanent incisor NOT_TRANSLATED +en Decreased size of the primary teeth HP:0006347 IAO:0000115 nl Decreased size of the primary teeth NOT_TRANSLATED +en Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth HP:0000691 IAO:0000115 nl Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth NOT_TRANSLATED +en Decreased skull ossification HP:0004331 rdfs:label nl Verminderde schedel ossificatie CANDIDATE +en Decreased small intestinal mucosa lactase level HP:0025130 rdfs:label nl Verminderde dunne darm mucosa lactase-activiteit CANDIDATE +en Decreased social interactions HP:5200310 rdfs:label nl Verminderde sociale interacties OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Decreased specific anti-polysaccharide antibody level HP:0002848 rdfs:label nl Specifieke anti-polysaccharide antistof deficiëntie CANDIDATE +en Decreased specific antibody response to infection HP:0410308 rdfs:label nl Decreased specific antibody response to infection NOT_TRANSLATED +en Decreased specific antibody response to polysaccharide vaccine HP:0410299 rdfs:label nl Decreased specific antibody response to polysaccharide vaccine NOT_TRANSLATED +en Decreased specific antibody response to protein vaccine HP:0410294 rdfs:label nl Decreased specific antibody response to protein vaccine NOT_TRANSLATED +en Decreased specific antibody response to protein-conjugated polysaccharide vaccine HP:0410302 rdfs:label nl Decreased specific antibody response to protein-conjugated polysaccharide vaccine NOT_TRANSLATED +en Decreased specific antibody response to vaccination HP:0032140 rdfs:label nl Decreased specific antibody response to vaccination NOT_TRANSLATED +en Decreased specific pneumococcal antibody level HP:0012476 rdfs:label nl Specifieke pneumokokken antistoffen deficiëntie CANDIDATE +en Decreased stool elastase level HP:0034469 rdfs:label nl Decreased stool elastase level NOT_TRANSLATED +en Decreased strength (ability to move) of the lateral rectus muscle HP:0031750 IAO:0000115 nl Decreased strength (ability to move) of the lateral rectus muscle NOT_TRANSLATED +en Decreased strength of the abdominal musculature HP:0009023 IAO:0000115 nl Decreased strength of the abdominal musculature NOT_TRANSLATED +en Decreased strength of the inferior oblique muscle HP:0025598 IAO:0000115 nl Decreased strength of the inferior oblique muscle NOT_TRANSLATED +en Decreased strength of the inferior rectus muscle HP:0025601 IAO:0000115 nl Decreased strength of the inferior rectus muscle NOT_TRANSLATED +en Decreased strength of the medial rectus muscle HP:0031753 IAO:0000115 nl Decreased strength of the medial rectus muscle NOT_TRANSLATED +en Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction HP:0002578 IAO:0000115 nl Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction NOT_TRANSLATED +en Decreased strength of the neck musculature HP:0000467 IAO:0000115 nl Decreased strength of the neck musculature NOT_TRANSLATED +en Decreased strength of the superior oblique muscle HP:0025592 IAO:0000115 nl Decreased strength of the superior oblique muscle NOT_TRANSLATED +en Decreased strength of the superior rectus muscle HP:0031744 IAO:0000115 nl Decreased strength of the superior rectus muscle NOT_TRANSLATED +en Decreased strength of the vocal fold on both sides HP:0012822 IAO:0000115 nl Decreased strength of the vocal fold on both sides NOT_TRANSLATED +en Decreased strength of the vocal fold on one side HP:0012821 IAO:0000115 nl Decreased strength of the vocal fold on one side NOT_TRANSLATED +en Decreased strength of the vocal folds HP:0001604 IAO:0000115 nl Decreased strength of the vocal folds NOT_TRANSLATED +en Decreased succinic semialdehyde dehydrogenase level HP:0032530 rdfs:label nl Decreased succinic semialdehyde dehydrogenase level NOT_TRANSLATED +en Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose HP:0003194 IAO:0000115 nl Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose NOT_TRANSLATED +en Decreased superoxide dismutase level HP:0031837 rdfs:label nl Decreased superoxide dismutase level NOT_TRANSLATED +en Decreased sweating due to autonomic dysfunction HP:0007480 rdfs:label nl Verminderd zweten vanwege autonome dysfunctie CANDIDATE +en Decreased sweating on the palms and soles HP:0034012 IAO:0000115 nl Decreased sweating on the palms and soles NOT_TRANSLATED +en Decreased systolic blood pressure HP:0500105 rdfs:label nl Decreased systolic blood pressure NOT_TRANSLATED +en Decreased tear drainage HP:0031881 rdfs:label nl Decreased tear drainage NOT_TRANSLATED +en Decreased testicular size HP:0008734 rdfs:label nl Verminderde testis grootte CANDIDATE +en Decreased thalamic volume HP:0012695 rdfs:label nl Verminderd thalamus volume CANDIDATE +en Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs HP:0012577 IAO:0000115 nl Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs NOT_TRANSLATED +en Decreased thickness of the helix of the ear HP:0009905 IAO:0000115 nl Decreased thickness of the helix of the ear NOT_TRANSLATED +en Decreased thyroid-stimulating hormone level HP:0031098 rdfs:label nl Afgenomen TSH niveau CANDIDATE +en Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) HP:0012232 IAO:0000115 nl Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) NOT_TRANSLATED +en Decreased tolerance to sound HP:0025112 IAO:0000115 nl Decreased tolerance to sound NOT_TRANSLATED +en Decreased total hemolytic complement activity HP:0031906 rdfs:label nl Decreased total hemolytic complement activity NOT_TRANSLATED +en Decreased total iron binding capacity HP:0033211 rdfs:label nl Decreased total iron binding capacity NOT_TRANSLATED +en Decreased transferrin saturation HP:0012464 rdfs:label nl Verminderde transferrine saturatie CANDIDATE +en Decreased uridine diphosphate glucose-4-epimerase level in plasma HP:0410195 rdfs:label nl Decreased uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED +en Decreased uridine diphosphate glucose-4-epimerase level in red blood cells HP:0410198 rdfs:label nl Decreased uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED +en Decreased urinary 1-methylhistidine HP:0410314 rdfs:label nl Decreased urinary 1-methylhistidine NOT_TRANSLATED +en Decreased urinary 3-methylhistidine HP:0410318 rdfs:label nl Decreased urinary 3-methylhistidine NOT_TRANSLATED +en Decreased urinary catecholamine concentration HP:0045012 rdfs:label nl Verminderde urine catecholamine concentratie CANDIDATE +en Decreased urinary copper concentration HP:0045035 rdfs:label nl Verminderde urine koper concentratie CANDIDATE +en Decreased urinary guanosine level HP:0033160 rdfs:label nl Decreased urinary guanosine level NOT_TRANSLATED +en Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio HP:0034006 rdfs:label nl Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio NOT_TRANSLATED +en Decreased urinary potassium HP:0012364 rdfs:label nl Verminderd urine kalium CANDIDATE +en Decreased urinary sulfate HP:0003359 rdfs:label nl Verminderd urine sulfaat CANDIDATE +en Decreased urinary urate HP:0011935 rdfs:label nl Verlaagde uraten in urine CANDIDATE +en Decreased urinary uromodulin level HP:0034886 rdfs:label nl Verlaagd uromodulinegehalte in urine OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Decreased urine alpha-ketoglutarate concentration HP:0012403 rdfs:label nl Decreased urine alpha-ketoglutarate concentration NOT_TRANSLATED +en Decreased urine bicarbonate concentration HP:0045011 rdfs:label nl Verminderde urine bicarbonaat concentratie CANDIDATE +en Decreased urine output HP:0011037 rdfs:label nl Verminderde urineproductie CANDIDATE +en Decreased urine urobilinogen HP:0032473 rdfs:label nl Decreased urine urobilinogen NOT_TRANSLATED +en Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin HP:0000331 IAO:0000115 nl Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin NOT_TRANSLATED +en Decreased vigilance HP:0032044 rdfs:label nl Decreased vigilance NOT_TRANSLATED +en Decreased waist to hip ratio HP:0031820 rdfs:label nl Decreased waist to hip ratio NOT_TRANSLATED +en Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement HP:0031820 IAO:0000115 nl Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement NOT_TRANSLATED +en Decreased width of nail HP:0011313 IAO:0000115 nl Decreased width of nail NOT_TRANSLATED +en Decreased width of the bony bridge of the nose HP:0000446 IAO:0000115 nl Decreased width of the bony bridge of the nose NOT_TRANSLATED +en Decreased width of the diaphysis of long bones HP:0006470 IAO:0000115 nl Decreased width of the diaphysis of long bones NOT_TRANSLATED +en Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis HP:0100958 IAO:0000115 nl Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis NOT_TRANSLATED +en Decreased width of the metacarpal bones (that is, reduced diameter) HP:0006236 IAO:0000115 nl Decreased width of the metacarpal bones (that is, reduced diameter) NOT_TRANSLATED +en Decreased width of the nasal ridge HP:0000418 IAO:0000115 nl Decreased width of the nasal ridge NOT_TRANSLATED +en Decreased width of the upper lip HP:0000188 IAO:0000115 nl Decreased width of the upper lip NOT_TRANSLATED +en Decreased width of the uvula HP:0010811 IAO:0000115 nl Decreased width of the uvula NOT_TRANSLATED +en Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) HP:0002868 IAO:0000115 nl Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) NOT_TRANSLATED +en Decreased/absent ankle reflexes HP:0200101 rdfs:label nl Verlaagde/afwezige enkel reflexen CANDIDATE +en Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high HP:0410386 IAO:0000115 nl Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high NOT_TRANSLATED +en Deep S wave in lead V5 HP:0032197 rdfs:label nl Deep S wave in lead V5 NOT_TRANSLATED +en Deep anterior chamber HP:0007765 rdfs:label nl Diepe voorste kamer CANDIDATE +en Deep cerebral white matter hyperintensities HP:0030892 rdfs:label nl Diepe cerebrale witte stof hyperdensiteiten CANDIDATE +en Deep dermal perivascular inflammatory infiltrate HP:0031191 rdfs:label nl Diep dermaal perivasculair ontstekingsinfiltraat CANDIDATE +en Deep dermatophytosis HP:0032515 rdfs:label nl Deep dermatophytosis NOT_TRANSLATED +en Deep episcleral hyperemia HP:0025340 rdfs:label nl Diepe episclerale hyperemie CANDIDATE +en Deep longitudinal plantar crease HP:0004681 rdfs:label nl Diepe longitudinale plantaire plooien CANDIDATE +en Deep palmar crease HP:0006191 rdfs:label nl Diepe handlijn CANDIDATE +en Deep philtrum HP:0002002 rdfs:label nl Diep filtrum CANDIDATE +en Deep plantar creases HP:0001869 rdfs:label nl Diepe plantaire plooien CANDIDATE +en Deep venous thrombosis HP:0002625 rdfs:label nl Diep veneuze trombose CANDIDATE +en Deep white matter hypodensities HP:0007321 rdfs:label nl Diepe witte stof hypodensiteiten CANDIDATE +en Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping HP:0025267 IAO:0000115 nl Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping NOT_TRANSLATED +en Deep-set nails HP:0001814 rdfs:label nl Diep ingelegde nagels CANDIDATE +en Deeply placed nails HP:0001814 IAO:0000115 nl Deeply placed nails NOT_TRANSLATED +en Deeply set eye HP:0000490 rdfs:label nl Diep liggende ogen CANDIDATE +en Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus HP:0004791 IAO:0000115 nl Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus NOT_TRANSLATED +en Defect of palpebral conjunctiva HP:0430011 rdfs:label nl Defect van palpebrale conjunctiva CANDIDATE +en Defect or defects of the morphogenesis of the aorta and pulmonary arteries HP:0011603 IAO:0000115 nl Defect or defects of the morphogenesis of the aorta and pulmonary arteries NOT_TRANSLATED +en Defect or defects of the morphogenesis of the left heart identifiable at birth HP:0045017 IAO:0000115 nl Defect or defects of the morphogenesis of the left heart identifiable at birth NOT_TRANSLATED +en Defect or defects of the morphogenesis of the right heart identifiable at birth HP:0011723 IAO:0000115 nl Defect or defects of the morphogenesis of the right heart identifiable at birth NOT_TRANSLATED +en Defective B cell activation HP:0005384 rdfs:label nl Defecte B-cel-activatie CANDIDATE +en Defective B cell differentiation HP:0005357 rdfs:label nl Defecte B-cel differentiatie CANDIDATE +en Defective DNA repair after ultraviolet radiation damage HP:0003079 rdfs:label nl Defect DNA herstel na schade door ultraviolette straling CANDIDATE +en Defective T cell proliferation HP:0030253 rdfs:label nl Defecte T-celproliferatie CANDIDATE +en Defective development of the vermis of cerebellum HP:0002195 IAO:0000115 nl Defective development of the vermis of cerebellum NOT_TRANSLATED +en Defective interstrand cross-link repair HP:0410166 rdfs:label nl Defective interstrand cross-link repair NOT_TRANSLATED +en Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones HP:0008134 IAO:0000115 nl Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED +en Defective production of NFKB1-dependent cytokines HP:0011114 rdfs:label nl Defecte productie van NFKB1-afhankelijke cytokines CANDIDATE +en Defective structure and function of myelin sheaths of the white matter of the brain HP:0007266 IAO:0000115 nl Defective structure and function of myelin sheaths of the white matter of the brain NOT_TRANSLATED +en Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination HP:0003469 IAO:0000115 nl Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination NOT_TRANSLATED +en Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury HP:0012483 IAO:0000115 nl Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury NOT_TRANSLATED +en Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin HP:0012484 IAO:0000115 nl Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin NOT_TRANSLATED +en Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease) HP:0004345 IAO:0000115 nl Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease) NOT_TRANSLATED +en Deficiency of N-acetylglucosamine-1-phosphotransferase HP:0003264 rdfs:label nl Deficiëntie van N-acetylglucosamine-1-fosfotransferase CANDIDATE +en Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot HP:0040233 IAO:0000115 nl Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot NOT_TRANSLATED +en Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot HP:0040234 IAO:0000115 nl Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot NOT_TRANSLATED +en Deficiency of parathyroid hormone with congenital onset HP:0008198 IAO:0000115 nl Deficiency of parathyroid hormone with congenital onset NOT_TRANSLATED +en Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens HP:0004433 IAO:0000115 nl Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens NOT_TRANSLATED +en Deficiency of thyroid hormone HP:0000821 IAO:0000115 nl Deficiency of thyroid hormone NOT_TRANSLATED +en Deficiency or absence of cytochrome b(-245) HP:0003514 rdfs:label nl Deficiëntie of ontbreken van cytochroom b(-245) CANDIDATE +en Deficient excision of UV-induced pyrimidine dimers in DNA HP:0003213 rdfs:label nl Gebrekkige excisie van UV-geïnduceerde pyrimidine-dimeren in DNA CANDIDATE +en Deficient ossification of hand bones HP:0004274 rdfs:label nl Gebrekkige ossificatie van hand botten CANDIDATE +en Deficit in nonword repetition HP:0002526 rdfs:label nl Tekort in niet-woordelijke herhaling CANDIDATE +en Deficit in phonologic short-term memory HP:0002549 rdfs:label nl Tekort in fonetisch korte termijn geheugen CANDIDATE +en Deflation of the glomerular tuft HP:0033268 rdfs:label nl Deflation of the glomerular tuft NOT_TRANSLATED +en Deformed forearm bones HP:0003959 rdfs:label nl Misvormde botten van onderarm CANDIDATE +en Deformed humeral heads HP:0005687 rdfs:label nl Misvormde humerus koppen CANDIDATE +en Deformed humerus HP:0003871 rdfs:label nl Misvormde humerus CANDIDATE +en Deformed radius HP:0003977 rdfs:label nl Misvormde radius CANDIDATE +en Deformed rib cage HP:0000886 rdfs:label nl Misvormde ribbenkast CANDIDATE +en Deformed sella turcica HP:0002681 rdfs:label nl Misvormde sella turcica CANDIDATE +en Deformed tarsal bones HP:0008119 rdfs:label nl Misvormde tarsale botten CANDIDATE +en Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity HP:0002758 IAO:0000115 nl Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity NOT_TRANSLATED +en Degeneration of anterior horn cells HP:0002398 rdfs:label nl Degeneratie van de voorhoorncellen CANDIDATE +en Degeneration of retinal ganglion cells and their axons HP:0001112 IAO:0000115 nl Degeneration of retinal ganglion cells and their axons NOT_TRANSLATED +en Degeneration of the lateral corticospinal tracts HP:0002314 rdfs:label nl Degeneratie van de laterale corticospinale banen CANDIDATE +en Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata HP:0008303 IAO:0000115 nl Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata NOT_TRANSLATED +en Degeneration of the striatum HP:0040140 rdfs:label nl Degeneratie van het striatum CANDIDATE +en Degenerative changes of the fat tissue HP:0009125 IAO:0000115 nl Degenerative changes of the fat tissue NOT_TRANSLATED +en Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly HP:0007667 IAO:0000115 nl Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly NOT_TRANSLATED +en Degenerative liver disease HP:0005237 rdfs:label nl Degeneratieve leverziekten CANDIDATE +en Degenerative vitreoretinopathy HP:0007964 rdfs:label nl Degeneratieve vitreoretinopathie CANDIDATE +en Dehydration HP:0001944 rdfs:label nl Uitdroging CANDIDATE +en Deja vu aura HP:0012005 rdfs:label nl Deja vu CANDIDATE +en Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter HP:0002963 IAO:0000115 nl Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter NOT_TRANSLATED +en Delay in the process of formation and maturation of the epiphysis of one or more phalanx HP:0006016 IAO:0000115 nl Delay in the process of formation and maturation of the epiphysis of one or more phalanx NOT_TRANSLATED +en Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles HP:0011705 IAO:0000115 nl Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles NOT_TRANSLATED +en Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars HP:0031162 IAO:0000115 nl Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars NOT_TRANSLATED +en Delayed CNS myelination HP:0002188 rdfs:label nl Vertraagde CZS myelinisatie CANDIDATE +en Delayed ability to crawl HP:0033128 rdfs:label nl Delayed ability to crawl NOT_TRANSLATED +en Delayed ability to roll over HP:0032989 rdfs:label nl Delayed ability to roll over NOT_TRANSLATED +en Delayed ability to sit HP:0025336 rdfs:label nl Vertraagd vermogen om te zitten CANDIDATE +en Delayed ability to stand HP:0025335 rdfs:label nl Vertraagd vermogen om te staan CANDIDATE +en Delayed ability to walk HP:0031936 rdfs:label nl Delayed ability to walk NOT_TRANSLATED +en Delayed ability to walk with support HP:0033257 rdfs:label nl Delayed ability to walk with support NOT_TRANSLATED +en Delayed adrenarche HP:0025453 rdfs:label nl Vertraagde adrenarche CANDIDATE +en Delayed ahcievement of the ability to roll front to back and back to front HP:0032989 IAO:0000115 nl Delayed ahcievement of the ability to roll front to back and back to front NOT_TRANSLATED +en Delayed calcaneal ossification HP:0008142 rdfs:label nl Vertraagde calcaneale ossificatie CANDIDATE +en Delayed canalization of nasolacrimal duct HP:0500048 rdfs:label nl Delayed canalization of nasolacrimal duct NOT_TRANSLATED +en Delayed closure of the anterior fontanelle HP:0001476 rdfs:label nl Vertraagde sluiting van de voorste fontanel CANDIDATE +en Delayed cranial suture closure HP:0000270 rdfs:label nl Vertraagde schedelnaadsluiting CANDIDATE +en Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign HP:0025605 IAO:0000115 nl Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign NOT_TRANSLATED +en Delayed elbow epiphyseal ossification HP:0003947 rdfs:label nl Vertraagde ossificatie van epifyse van elleboog CANDIDATE +en Delayed epiphyseal ossification HP:0002663 rdfs:label nl Vertraagde epifysaire ossificatie CANDIDATE +en Delayed eruption of permanent teeth HP:0000696 rdfs:label nl Vertraagd doorkomen van permanente tanden CANDIDATE +en Delayed eruption of primary teeth HP:0000680 rdfs:label nl Vertraagd doorkomen van primaire tanden CANDIDATE +en Delayed eruption of teeth HP:0000684 rdfs:label nl Vertraagd doorkomen van tanden CANDIDATE +en Delayed femoral head ossification HP:0008829 rdfs:label nl Vertraagde femurkop ossificatie CANDIDATE +en Delayed fine motor development HP:0010862 rdfs:label nl Vertraagde fijn motorische ontwikkeling CANDIDATE +en Delayed fracture healing HP:0032537 rdfs:label nl Delayed fracture healing NOT_TRANSLATED +en Delayed gross motor development HP:0002194 rdfs:label nl Vertraagde ontwikkeling van de grove motoriek CANDIDATE +en Delayed humeral epiphyseal ossification HP:0003894 rdfs:label nl Vertraagde epifysaire ossificatie van humerus CANDIDATE +en Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones HP:0008103 IAO:0000115 nl Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED +en Delayed maturation and calcification of the calcaneus HP:0008142 IAO:0000115 nl Delayed maturation and calcification of the calcaneus NOT_TRANSLATED +en Delayed maturation and calcification of the pubic bone HP:0008788 IAO:0000115 nl Delayed maturation and calcification of the pubic bone NOT_TRANSLATED +en Delayed maturation and calcification of the rami (branches) of the pubic bone HP:0008785 IAO:0000115 nl Delayed maturation and calcification of the rami (branches) of the pubic bone NOT_TRANSLATED +en Delayed maturation and calcification of the talus HP:0011836 IAO:0000115 nl Delayed maturation and calcification of the talus NOT_TRANSLATED +en Delayed menarche HP:0012569 rdfs:label nl Vertraagde menarche CANDIDATE +en Delayed myelination HP:0012448 IAO:0000115 nl Delayed myelination NOT_TRANSLATED +en Delayed myelination HP:0012448 rdfs:label nl Vertraagde myelinisatie CANDIDATE +en Delayed myelination in the central nervous system HP:0002188 IAO:0000115 nl Delayed myelination in the central nervous system NOT_TRANSLATED +en Delayed myelination in the peripheral nervous system HP:0011401 IAO:0000115 nl Delayed myelination in the peripheral nervous system NOT_TRANSLATED +en Delayed onset bleeding HP:0040232 rdfs:label nl Vertraagde aanvang van bloeding CANDIDATE +en Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles HP:0001678 IAO:0000115 nl Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles NOT_TRANSLATED +en Delayed ossification of carpal bones HP:0001216 rdfs:label nl Vertraagde ossificatie van carpale botten CANDIDATE +en Delayed ossification of pubic rami HP:0008785 rdfs:label nl Vertraagde ossificatie van ramus pubis CANDIDATE +en Delayed ossification of the femoral head HP:0008829 IAO:0000115 nl Delayed ossification of the femoral head NOT_TRANSLATED +en Delayed ossification of the hand bones HP:0004052 rdfs:label nl Vertraagde ossificatie van de botten van de hand CANDIDATE +en Delayed ossification of the sacrum HP:0025371 rdfs:label nl Vertraagde ossificatie van het sacrum CANDIDATE +en Delayed ossification of the scaphoid HP:0004246 rdfs:label nl Vertraagde ossificatie van het scafoïd CANDIDATE +en Delayed ossification of the trapezium HP:0004254 rdfs:label nl Vertraagde ossificatie van het trapezium CANDIDATE +en Delayed ossification of the trapezoid bone HP:0004257 rdfs:label nl Vertraagde ossificatie van het os trapezium CANDIDATE +en Delayed ossification of vertebral epiphysis HP:0012711 rdfs:label nl Vertraagde ossificatie vertebrale epifyse CANDIDATE +en Delayed patellar ossification HP:0006454 rdfs:label nl Vertraagde patellaire ossificatie CANDIDATE +en Delayed peripheral myelination HP:0011401 rdfs:label nl Vertraagde perifere myelinisatie CANDIDATE +en Delayed phalangeal epiphyseal ossification HP:0006016 rdfs:label nl Vertraagde falangeale epifysaire ossificatie CANDIDATE +en Delayed pneumatization of the mastoid process HP:0005906 rdfs:label nl Vertraagde pneumatisatie van processus mastoideus CANDIDATE +en Delayed proximal femoral epiphyseal ossification HP:0008828 rdfs:label nl Vertraagde ossificatie van proximale epifyse van femur CANDIDATE +en Delayed puberty HP:0000823 rdfs:label nl Vertraagde puberteit CANDIDATE +en Delayed pubic bone ossification HP:0008788 rdfs:label nl Vertraagde ossificatie os pubis CANDIDATE +en Delayed recoil upon stretching of skin HP:0025087 rdfs:label nl Vertraagde terugslag na het oprekken van de huid CANDIDATE +en Delayed self-feeding during toddler years HP:0012381 rdfs:label nl Vertraagde zelf-voeding tijdens peuterjaren CANDIDATE +en Delayed skeletal maturation HP:0002750 rdfs:label nl Vertraagde maturiteit van het skelet CANDIDATE +en Delayed social development HP:0012434 rdfs:label nl Vertraagde sociale ontwikkeling CANDIDATE +en Delayed speech and language development HP:0000750 rdfs:label nl Vertraagde spraak- en taal ontwikkeling CANDIDATE +en Delayed talus ossification HP:0011836 rdfs:label nl Vertraagde talus ossificatie CANDIDATE +en Delayed tarsal ossification HP:0008103 rdfs:label nl Vertraagde tarsale ossificatie CANDIDATE +en Delayed thelarche HP:0025515 rdfs:label nl Vertraagde thelarche CANDIDATE +en Delayed tooth eruption affecting the primary dentition HP:0000680 IAO:0000115 nl Delayed tooth eruption affecting the primary dentition NOT_TRANSLATED +en Delayed tooth eruption affecting the secondary dentition HP:0000696 IAO:0000115 nl Delayed tooth eruption affecting the secondary dentition NOT_TRANSLATED +en Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age HP:0000684 IAO:0000115 nl Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age NOT_TRANSLATED +en Delayed umbilical cord separation HP:0032434 rdfs:label nl Delayed umbilical cord separation NOT_TRANSLATED +en Delayed upper limb epiphyseal ossification HP:0003840 rdfs:label nl Vertraagde ossificatie van epifysen van bovenste ledematen CANDIDATE +en Delayed vertebral ossification HP:0031096 rdfs:label nl Vertraagde vertebrale ossificatie CANDIDATE +en Delirium HP:0031258 rdfs:label nl Delirium CANDIDATE +en Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section HP:0030363 IAO:0000115 nl Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section NOT_TRANSLATED +en Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth HP:0030364 IAO:0000115 nl Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth NOT_TRANSLATED +en Delivery by Odon device HP:0030366 rdfs:label nl Geboorte door Odon apparaat CANDIDATE +en Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice HP:0030449 IAO:0000115 nl Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice NOT_TRANSLATED +en Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy) HP:0011410 IAO:0000115 nl Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy) NOT_TRANSLATED +en Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately HP:0011412 IAO:0000115 nl Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately NOT_TRANSLATED +en Delusions HP:0000746 rdfs:label nl Wanen CANDIDATE +en Dementia HP:0000726 rdfs:label nl Dementie CANDIDATE +en Demyelinating motor neuropathy HP:0007220 rdfs:label nl Demyeliniserende motorische neuropathie CANDIDATE +en Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies HP:0007108 IAO:0000115 nl Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies NOT_TRANSLATED +en Demyelinating peripheral neuropathy HP:0007108 rdfs:label nl Demyeliniserende perifere neuropathie CANDIDATE +en Demyelinating sensory neuropathy HP:0011402 rdfs:label nl Demyeliniserende sensorische neuropathie CANDIDATE +en Demyelination of peripheral motor nerves HP:0007220 IAO:0000115 nl Demyelination of peripheral motor nerves NOT_TRANSLATED +en Demyelination of peripheral sensory nerves HP:0011402 IAO:0000115 nl Demyelination of peripheral sensory nerves NOT_TRANSLATED +en Denervation of the diaphragm HP:0009109 rdfs:label nl Denervatie van het diafragma CANDIDATE +en Dens in dente HP:0011088 rdfs:label nl Dens invaginatus CANDIDATE +en Dense calcifications in the cerebellar dentate nucleus HP:0002461 rdfs:label nl Dichte calcificaties in de cerebellaire nucleus dentatus CANDIDATE +en Dense calvaria HP:0000250 rdfs:label nl Dicht calvaria CANDIDATE +en Dense metaphyseal bands HP:0100959 rdfs:label nl Dichte metafysaire banden CANDIDATE +en Dense posterior cortical cataract HP:0007948 rdfs:label nl Dicht posterieur corticaal cataract CANDIDATE +en Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex HP:0100959 IAO:0000115 nl Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex NOT_TRANSLATED +en Dental crowding HP:0000678 rdfs:label nl Tand verdringing CANDIDATE +en Dental enamel pits HP:0009722 rdfs:label nl Glazuur pits CANDIDATE +en Dental malocclusion HP:0000689 rdfs:label nl Malocclusie van de tanden CANDIDATE +en Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns HP:0000689 IAO:0000115 nl Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns NOT_TRANSLATED +en Dentin dysplasia HP:0033784 rdfs:label nl Dentin dysplasia NOT_TRANSLATED +en Dentinogenesis imperfecta HP:0000703 rdfs:label nl Dentinogenesis imperfecta CANDIDATE +en Dentinogenesis imperfecta limited to primary teeth HP:0011060 rdfs:label nl Dentinogenesis imperfecta beperkt tot primaire tanden CANDIDATE +en Dentinogenesis imperfecta of primary and permanent teeth HP:0011086 rdfs:label nl Dentinogenesis imperfecta van primaire en permanente tanden CANDIDATE +en Dependency on intravenous nutrition HP:0025156 rdfs:label nl Afhankelijkheid van intraveneuze voeding CANDIDATE +en Dependency on parenteral nutrition HP:0033994 rdfs:label nl Dependency on parenteral nutrition NOT_TRANSLATED +en Depigmentation/hyperpigmentation of skin HP:0007483 rdfs:label nl Depigmentatie/hyperpigmentatie van huid CANDIDATE +en Depigmented fundus HP:0007680 rdfs:label nl Gedepigmenteerde fundus CANDIDATE +en Depletion of acid or accumulation base in the body fluids HP:0001948 IAO:0000115 nl Depletion of acid or accumulation base in the body fluids NOT_TRANSLATED +en Depletion of components of the alternative complement pathway HP:0005389 rdfs:label nl Uitputting van de componenten van de alternatieve complement pathway CANDIDATE +en Depletion of mitochondrial DNA in liver HP:0006581 rdfs:label nl Uitputting van mitochondriaal DNA in de lever CANDIDATE +en Depletion of mitochondrial DNA in muscle tissue HP:0009141 rdfs:label nl Uitputting van mitochondriaal DNA in spierweefsel CANDIDATE +en Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation HP:0032613 IAO:0000115 nl Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation NOT_TRANSLATED +en Deposition of calcium in the skin HP:0025520 IAO:0000115 nl Deposition of calcium in the skin NOT_TRANSLATED +en Deposition of calcium salts in a tissue or location in which calcification does not normally occur HP:0010766 IAO:0000115 nl Deposition of calcium salts in a tissue or location in which calcification does not normally occur NOT_TRANSLATED +en Deposition of calcium salts in gonadal tissue HP:0008703 IAO:0000115 nl Deposition of calcium salts in gonadal tissue NOT_TRANSLATED +en Deposition of calcium salts in muscle tissue HP:0100249 IAO:0000115 nl Deposition of calcium salts in muscle tissue NOT_TRANSLATED +en Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs HP:0006619 IAO:0000115 nl Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs NOT_TRANSLATED +en Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument) HP:0007618 IAO:0000115 nl Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument) NOT_TRANSLATED +en Deposition of calcium salts in the aortic valve HP:0004380 IAO:0000115 nl Deposition of calcium salts in the aortic valve NOT_TRANSLATED +en Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna HP:0030267 IAO:0000115 nl Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna NOT_TRANSLATED +en Deposition of calcium salts in the leaflets (cusps) of the aortic valve HP:0033641 IAO:0000115 nl Deposition of calcium salts in the leaflets (cusps) of the aortic valve NOT_TRANSLATED +en Deposition of calcium salts in the leaflets (cusps) of the mitral valve HP:0033642 IAO:0000115 nl Deposition of calcium salts in the leaflets (cusps) of the mitral valve NOT_TRANSLATED +en Deposition of calcium salts in the pituitary gland HP:0010513 IAO:0000115 nl Deposition of calcium salts in the pituitary gland NOT_TRANSLATED +en Deposition of calcium salts in the retina HP:0007862 IAO:0000115 nl Deposition of calcium salts in the retina NOT_TRANSLATED +en Deposition of calcium salts on both sides of the brain HP:0005671 IAO:0000115 nl Deposition of calcium salts on both sides of the brain NOT_TRANSLATED +en Deposition of calcium salts within small blood vessels of the brain HP:0002504 IAO:0000115 nl Deposition of calcium salts within small blood vessels of the brain NOT_TRANSLATED +en Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney HP:0033946 IAO:0000115 nl Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney NOT_TRANSLATED +en Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney HP:0033947 IAO:0000115 nl Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED +en Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor HP:0012627 IAO:0000115 nl Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor NOT_TRANSLATED +en Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney HP:0032591 IAO:0000115 nl Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney NOT_TRANSLATED +en Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity HP:0007841 IAO:0000115 nl Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity NOT_TRANSLATED +en Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes HP:0500028 IAO:0000115 nl Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes NOT_TRANSLATED +en Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney HP:0033920 IAO:0000115 nl Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED +en Deposits accumulating between the outer retina and the retinal pigment epithelium HP:0031528 IAO:0000115 nl Deposits accumulating between the outer retina and the retinal pigment epithelium NOT_TRANSLATED +en Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci HP:0031530 IAO:0000115 nl Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci NOT_TRANSLATED +en Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution HP:0031529 IAO:0000115 nl Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution NOT_TRANSLATED +en Deposits accumulating between the retinal pigment epithelium and Bruch's membrane HP:0031531 IAO:0000115 nl Deposits accumulating between the retinal pigment epithelium and Bruch's membrane NOT_TRANSLATED +en Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus HP:0031532 IAO:0000115 nl Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus NOT_TRANSLATED +en Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci HP:0031533 IAO:0000115 nl Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci NOT_TRANSLATED +en Deposits immunoreactive to beta-amyloid protein HP:0003791 rdfs:label nl Deposities immunoreactief tegen beta-amyloïd eiwit CANDIDATE +en Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) HP:0033603 IAO:0000115 nl Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) NOT_TRANSLATED +en Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) HP:0033398 IAO:0000115 nl Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs) NOT_TRANSLATED +en Deposits of immunoglobulins and complement components along the dermoepidermal junction HP:4000107 IAO:0000115 nl Deposits of immunoglobulins and complement components along the dermoepidermal junction NOT_TRANSLATED +en Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent HP:0100832 IAO:0000115 nl Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent NOT_TRANSLATED +en Depressed glabella HP:0011222 rdfs:label nl Depressed glabella NOT_TRANSLATED +en Depressed nasal bridge HP:0005280 rdfs:label nl Platte neusbrug CANDIDATE +en Depressed nasal ridge HP:0000457 rdfs:label nl Platte neusrug CANDIDATE +en Depressed nasal tip HP:0000437 rdfs:label nl Platte neuspunt CANDIDATE +en Depression HP:0000716 rdfs:label nl Depressie CANDIDATE +en Depression located on the vermilion of the lower lip, usually paramedian HP:0000196 IAO:0000115 nl Depression located on the vermilion of the lower lip, usually paramedian NOT_TRANSLATED +en Depression located on the vermilion of the upper lip, usually paramedian HP:0100268 IAO:0000115 nl Depression located on the vermilion of the upper lip, usually paramedian NOT_TRANSLATED +en Depression located paramedially on the vermilion of a lip HP:0100269 IAO:0000115 nl Depression located paramedially on the vermilion of a lip NOT_TRANSLATED +en Depression of profile in both temporal regions HP:0025386 IAO:0000115 nl Depression of profile in both temporal regions NOT_TRANSLATED +en Dermal atrophy HP:0004334 rdfs:label nl Dermale atrofie CANDIDATE +en Dermal sinus tract HP:0020223 rdfs:label nl Dermal sinus tract NOT_TRANSLATED +en Dermal translucency HP:0010648 rdfs:label nl Dermale translucentie CANDIDATE +en Dermatan sulfate excretion in urine HP:0008301 rdfs:label nl Dermataansulfaat excretie in urine CANDIDATE +en Dermatochalasis HP:0010750 rdfs:label nl Dermatochalasis CANDIDATE +en Dermatoglyphic ridges abnormal HP:0005689 rdfs:label nl Dermatoglyphic ridges abnormal NOT_TRANSLATED +en Dermatoglyphic variants HP:0005882 rdfs:label nl Dermatoglyfische varianten CANDIDATE +en Dermatographic urticaria HP:0011971 rdfs:label nl Dermatografische urticaria CANDIDATE +en Dermatological manifestations of systemic disorders HP:0001005 rdfs:label nl Dermatologische uitingen van systemische aandoeningen CANDIDATE +en Dermatomal HP:0025294 rdfs:label nl Dermatomaal CANDIDATE +en Dermoid cyst HP:0025247 rdfs:label nl Dermoidcyste CANDIDATE +en Dermolipoma of the conjunctiva HP:0500040 rdfs:label nl Dermolipoma of the conjunctiva NOT_TRANSLATED +en Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells HP:0045063 IAO:0000115 nl Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells NOT_TRANSLATED +en Descemet Membrane Folds HP:0012039 rdfs:label nl Descemet Membrane Folds NOT_TRANSLATED +en Descending aorta hypoplasia HP:0025495 rdfs:label nl Hypoplastische aorta CANDIDATE +en Descending aortic dissection HP:0012499 rdfs:label nl Aorta descendens dissectie CANDIDATE +en Descending thoracic aorta aneurysm HP:0004959 rdfs:label nl Aneurysma van de thoracale aorta descendens CANDIDATE +en Descreased amplitude of eletrical response upon electroretinography HP:0000654 IAO:0000115 nl Descreased amplitude of eletrical response upon electroretinography NOT_TRANSLATED +en Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent HP:0001845 IAO:0000115 nl Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent NOT_TRANSLATED +en Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject HP:0003831 IAO:0000115 nl Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject NOT_TRANSLATED +en Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years HP:0003829 IAO:0000115 nl Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years NOT_TRANSLATED +en Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan HP:4000160 IAO:0000115 nl Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan NOT_TRANSLATED +en Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan HP:4000159 IAO:0000115 nl Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan NOT_TRANSLATED +en Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan HP:4000158 IAO:0000115 nl Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan NOT_TRANSLATED +en Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals HP:0025352 IAO:0000115 nl Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals NOT_TRANSLATED +en Desmin bodies HP:0100300 rdfs:label nl Desmin bodies CANDIDATE +en Desmoid tumors HP:0100245 rdfs:label nl Desmoïde tumoren CANDIDATE +en Desquamation of skin soon after birth HP:0007549 rdfs:label nl Desquamatie van de huid kort na de geboorte CANDIDATE +en Desquamative interstitial pneumonitis HP:0005942 rdfs:label nl Desquamatieve interstitiële pneumonitis CANDIDATE +en Destruction of an area of humerus bone due to a disease process, such as cancer HP:0003875 IAO:0000115 nl Destruction of an area of humerus bone due to a disease process, such as cancer NOT_TRANSLATED +en Detachment of the distal fingernails from the nail bed HP:0008400 IAO:0000115 nl Detachment of the distal fingernails from the nail bed NOT_TRANSLATED +en Detachment of the nail from the nail bed HP:0001806 IAO:0000115 nl Detachment of the nail from the nail bed NOT_TRANSLATED +en Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo' HP:0033237 IAO:0000115 nl Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo' NOT_TRANSLATED +en Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means HP:0011837 IAO:0000115 nl Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means NOT_TRANSLATED +en Detection of 3,5,6-trichloro-2-pyridinol in the urine HP:0034296 IAO:0000115 nl Detection of 3,5,6-trichloro-2-pyridinol in the urine NOT_TRANSLATED +en Detection of abnormal ultra-large von Willebrand factor multimers HP:0030133 IAO:0000115 nl Detection of abnormal ultra-large von Willebrand factor multimers NOT_TRANSLATED +en Detection of acetaminophen in the blood HP:0410283 IAO:0000115 nl Detection of acetaminophen in the blood NOT_TRANSLATED +en Detection of amphetamine or its metabolites in urine HP:0500112 IAO:0000115 nl Detection of amphetamine or its metabolites in urine NOT_TRANSLATED +en Detection of arsenic in the blood circulation HP:0032450 IAO:0000115 nl Detection of arsenic in the blood circulation NOT_TRANSLATED +en Detection of barbiturate metabolites such as Phenobarbital in blood HP:0500116 IAO:0000115 nl Detection of barbiturate metabolites such as Phenobarbital in blood NOT_TRANSLATED +en Detection of barbiturate metabolites such as Phenobarbital in urine HP:0500109 IAO:0000115 nl Detection of barbiturate metabolites such as Phenobarbital in urine NOT_TRANSLATED +en Detection of barbiturate metabolites such as phenobarbital in meconium HP:0410200 IAO:0000115 nl Detection of barbiturate metabolites such as phenobarbital in meconium NOT_TRANSLATED +en Detection of barbiturate metabolites such as phenobarbital in the gastric fluid HP:0410203 IAO:0000115 nl Detection of barbiturate metabolites such as phenobarbital in the gastric fluid NOT_TRANSLATED +en Detection of barbiturate metabolites such as phenobarbital in the hair HP:0410201 IAO:0000115 nl Detection of barbiturate metabolites such as phenobarbital in the hair NOT_TRANSLATED +en Detection of barbiturate metabolites such as phenobarbital in the stool HP:0410202 IAO:0000115 nl Detection of barbiturate metabolites such as phenobarbital in the stool NOT_TRANSLATED +en Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine HP:0500111 IAO:0000115 nl Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine NOT_TRANSLATED +en Detection of cocaine or its major metabolite, benzoylecgonine, in urine HP:0500108 IAO:0000115 nl Detection of cocaine or its major metabolite, benzoylecgonine, in urine NOT_TRANSLATED +en Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum HP:0410208 IAO:0000115 nl Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum NOT_TRANSLATED +en Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine HP:0500110 IAO:0000115 nl Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine NOT_TRANSLATED +en Detection of lead in the blood HP:0410399 IAO:0000115 nl Detection of lead in the blood NOT_TRANSLATED +en Detection of methadone and its metabolites in the stool HP:0410307 IAO:0000115 nl Detection of methadone and its metabolites in the stool NOT_TRANSLATED +en Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium HP:0410285 IAO:0000115 nl Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium NOT_TRANSLATED +en Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum HP:0410207 IAO:0000115 nl Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum NOT_TRANSLATED +en Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine HP:0031841 IAO:0000115 nl Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine NOT_TRANSLATED +en Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia HP:0410286 IAO:0000115 nl Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia NOT_TRANSLATED +en Detection of norcotinine, a metabolite of nicotine, in urine HP:0410239 IAO:0000115 nl Detection of norcotinine, a metabolite of nicotine, in urine NOT_TRANSLATED +en Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene HP:0410284 IAO:0000115 nl Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene NOT_TRANSLATED +en Detection of norpropoxyphene in urine HP:0410290 IAO:0000115 nl Detection of norpropoxyphene in urine NOT_TRANSLATED +en Detection of opioids or opioid metabolites in urine HP:0500113 IAO:0000115 nl Detection of opioids or opioid metabolites in urine NOT_TRANSLATED +en Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris HP:0031332 IAO:0000115 nl Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris NOT_TRANSLATED +en Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons HP:0025030 IAO:0000115 nl Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons NOT_TRANSLATED +en Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus HP:0034520 IAO:0000115 nl Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus NOT_TRANSLATED +en Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina HP:0025146 IAO:0000115 nl Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina NOT_TRANSLATED +en Deterioration of the tissues of the lateral corticospinal tracts HP:0002314 IAO:0000115 nl Deterioration of the tissues of the lateral corticospinal tracts NOT_TRANSLATED +en Deterioration or loss of the tissues of the cochlea HP:0005102 IAO:0000115 nl Deterioration or loss of the tissues of the cochlea NOT_TRANSLATED +en Deterioration or loss of the tissues of the saccule of the vestibule HP:0031000 IAO:0000115 nl Deterioration or loss of the tissues of the saccule of the vestibule NOT_TRANSLATED +en Detrusor sphincter dyssynergia HP:0025488 rdfs:label nl Detrusor sfincter dyssynergie CANDIDATE +en Deuteranomaly HP:0011520 rdfs:label nl Deuteranomalie CANDIDATE +en Deuteranopia HP:0011521 rdfs:label nl Deuteranopie CANDIDATE +en Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation HP:0031009 IAO:0000115 nl Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation NOT_TRANSLATED +en Development of gray hair at a younger than normal age HP:0002216 IAO:0000115 nl Development of gray hair at a younger than normal age NOT_TRANSLATED +en Development of the reproductive system is inconsistent with the chromosomal sex HP:0012245 IAO:0000115 nl Development of the reproductive system is inconsistent with the chromosomal sex NOT_TRANSLATED +en Developmental abnormality in which the lens and cornea are not separated HP:0011485 IAO:0000115 nl Developmental abnormality in which the lens and cornea are not separated NOT_TRANSLATED +en Developmental acceleration of ossification of the proximal epiphysis of the femur HP:0008797 IAO:0000115 nl Developmental acceleration of ossification of the proximal epiphysis of the femur NOT_TRANSLATED +en Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel HP:0012621 IAO:0000115 nl Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel NOT_TRANSLATED +en Developmental aplasia of the distal phalanx of third toe HP:0100378 IAO:0000115 nl Developmental aplasia of the distal phalanx of third toe NOT_TRANSLATED +en Developmental aplasia of the middle phalanx of third toe HP:0100381 IAO:0000115 nl Developmental aplasia of the middle phalanx of third toe NOT_TRANSLATED +en Developmental cataract HP:0000519 rdfs:label nl Congenitaal cataract CANDIDATE +en Developmental defect associated with absence of one or more metacarpal bones HP:0010048 IAO:0000115 nl Developmental defect associated with absence of one or more metacarpal bones NOT_TRANSLATED +en Developmental defect characterized by a small and malformed corpus callosum HP:0006849 IAO:0000115 nl Developmental defect characterized by a small and malformed corpus callosum NOT_TRANSLATED +en Developmental defect characterized by an anomalous anatomic location of the heart HP:0004307 IAO:0000115 nl Developmental defect characterized by an anomalous anatomic location of the heart NOT_TRANSLATED +en Developmental defect characterized by the absence of the zygomatic arch HP:0034260 IAO:0000115 nl Developmental defect characterized by the absence of the zygomatic arch NOT_TRANSLATED +en Developmental defect characterized by undergrowth of the optic chiasm HP:0034311 IAO:0000115 nl Developmental defect characterized by undergrowth of the optic chiasm NOT_TRANSLATED +en Developmental defect resulting in congenital absence of the middle portion of the clavicle HP:0006638 IAO:0000115 nl Developmental defect resulting in congenital absence of the middle portion of the clavicle NOT_TRANSLATED +en Developmental delay of ossification of the proximal epiphysis of the femur HP:0008828 IAO:0000115 nl Developmental delay of ossification of the proximal epiphysis of the femur NOT_TRANSLATED +en Developmental dysplasia of dentin HP:0000703 IAO:0000115 nl Developmental dysplasia of dentin NOT_TRANSLATED +en Developmental dysplasia of dentin affecting only the primary dentition HP:0011060 IAO:0000115 nl Developmental dysplasia of dentin affecting only the primary dentition NOT_TRANSLATED +en Developmental dysplasia of dentin or both the primary dentition and the permanent dentition HP:0011086 IAO:0000115 nl Developmental dysplasia of dentin or both the primary dentition and the permanent dentition NOT_TRANSLATED +en Developmental dysplasia of the hair HP:0002552 IAO:0000115 nl Developmental dysplasia of the hair NOT_TRANSLATED +en Developmental glaucoma HP:0001087 rdfs:label nl Aangeboren glaucoom CANDIDATE +en Developmental hypoplasia (shortening) of all phalanges of the foot HP:0005035 IAO:0000115 nl Developmental hypoplasia (shortening) of all phalanges of the foot NOT_TRANSLATED +en Developmental hypoplasia (shortening) of middle phalanx of toe HP:0003795 IAO:0000115 nl Developmental hypoplasia (shortening) of middle phalanx of toe NOT_TRANSLATED +en Developmental hypoplasia (shortening) of proximal phalanx of toe HP:0011928 IAO:0000115 nl Developmental hypoplasia (shortening) of proximal phalanx of toe NOT_TRANSLATED +en Developmental hypoplasia of one or more phalanx of fourth toe HP:0100367 IAO:0000115 nl Developmental hypoplasia of one or more phalanx of fourth toe NOT_TRANSLATED +en Developmental hypoplasia of one or more phalanx of little toe HP:0100368 IAO:0000115 nl Developmental hypoplasia of one or more phalanx of little toe NOT_TRANSLATED +en Developmental hypoplasia of teeth HP:0000685 IAO:0000115 nl Developmental hypoplasia of teeth NOT_TRANSLATED +en Developmental hypoplasia of the adrenal glands HP:0000835 IAO:0000115 nl Developmental hypoplasia of the adrenal glands NOT_TRANSLATED +en Developmental hypoplasia of the adrenal medulla HP:0008239 IAO:0000115 nl Developmental hypoplasia of the adrenal medulla NOT_TRANSLATED +en Developmental hypoplasia of the antihelix HP:0009739 IAO:0000115 nl Developmental hypoplasia of the antihelix NOT_TRANSLATED +en Developmental hypoplasia of the apocrine sweat glands in the region of the axilla HP:0007397 IAO:0000115 nl Developmental hypoplasia of the apocrine sweat glands in the region of the axilla NOT_TRANSLATED +en Developmental hypoplasia of the clitoris HP:0000060 IAO:0000115 nl Developmental hypoplasia of the clitoris NOT_TRANSLATED +en Developmental hypoplasia of the cochlea HP:0008586 IAO:0000115 nl Developmental hypoplasia of the cochlea NOT_TRANSLATED +en Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average HP:0009898 IAO:0000115 nl Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average NOT_TRANSLATED +en Developmental hypoplasia of the dens of the axis HP:0003311 IAO:0000115 nl Developmental hypoplasia of the dens of the axis NOT_TRANSLATED +en Developmental hypoplasia of the dental enamel HP:0006297 IAO:0000115 nl Developmental hypoplasia of the dental enamel NOT_TRANSLATED +en Developmental hypoplasia of the distal phalanx of fourth toe HP:0100390 IAO:0000115 nl Developmental hypoplasia of the distal phalanx of fourth toe NOT_TRANSLATED +en Developmental hypoplasia of the distal phalanx of little toe HP:0100391 IAO:0000115 nl Developmental hypoplasia of the distal phalanx of little toe NOT_TRANSLATED +en Developmental hypoplasia of the distal phalanx of third toe HP:0100389 IAO:0000115 nl Developmental hypoplasia of the distal phalanx of third toe NOT_TRANSLATED +en Developmental hypoplasia of the eyelid HP:0430009 IAO:0000115 nl Developmental hypoplasia of the eyelid NOT_TRANSLATED +en Developmental hypoplasia of the fallopian tube HP:0008697 IAO:0000115 nl Developmental hypoplasia of the fallopian tube NOT_TRANSLATED +en Developmental hypoplasia of the intestine HP:0005245 IAO:0000115 nl Developmental hypoplasia of the intestine NOT_TRANSLATED +en Developmental hypoplasia of the mandible HP:0000347 IAO:0000115 nl Developmental hypoplasia of the mandible NOT_TRANSLATED +en Developmental hypoplasia of the middle phalanx of fourth toe HP:0100393 IAO:0000115 nl Developmental hypoplasia of the middle phalanx of fourth toe NOT_TRANSLATED +en Developmental hypoplasia of the middle phalanx of the 5th toe HP:0100394 IAO:0000115 nl Developmental hypoplasia of the middle phalanx of the 5th toe NOT_TRANSLATED +en Developmental hypoplasia of the middle phalanx of third toe HP:0100392 IAO:0000115 nl Developmental hypoplasia of the middle phalanx of third toe NOT_TRANSLATED +en Developmental hypoplasia of the ovary HP:0008724 IAO:0000115 nl Developmental hypoplasia of the ovary NOT_TRANSLATED +en Developmental hypoplasia of the parathyroid gland HP:0000860 IAO:0000115 nl Developmental hypoplasia of the parathyroid gland NOT_TRANSLATED +en Developmental hypoplasia of the phalanx of third toe HP:0100366 IAO:0000115 nl Developmental hypoplasia of the phalanx of third toe NOT_TRANSLATED +en Developmental hypoplasia of the primary teeth HP:0006334 IAO:0000115 nl Developmental hypoplasia of the primary teeth NOT_TRANSLATED +en Developmental hypoplasia of the proximal phalanx of fifth toe HP:0100397 IAO:0000115 nl Developmental hypoplasia of the proximal phalanx of fifth toe NOT_TRANSLATED +en Developmental hypoplasia of the proximal phalanx of fourth toe HP:0100396 IAO:0000115 nl Developmental hypoplasia of the proximal phalanx of fourth toe NOT_TRANSLATED +en Developmental hypoplasia of the thyroid gland HP:0005990 IAO:0000115 nl Developmental hypoplasia of the thyroid gland NOT_TRANSLATED +en Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth HP:0006353 IAO:0000115 nl Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth NOT_TRANSLATED +en Developmental hypoplasia of the vagina HP:0008726 IAO:0000115 nl Developmental hypoplasia of the vagina NOT_TRANSLATED +en Developmental regression HP:0002376 rdfs:label nl Regressie in ontwikkeling CANDIDATE +en Developmental stagnation HP:0007281 rdfs:label nl Stagnatie van ontwikkeling CANDIDATE +en Developmental stagnation at onset of seizures HP:0006834 rdfs:label nl Stagnatie van ontwikkeling bij aanvang insulten CANDIDATE +en Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges HP:0004097 IAO:0000115 nl Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges NOT_TRANSLATED +en Deviated nasal septum HP:0004411 rdfs:label nl Gedevieerd septum nasi CANDIDATE +en Deviated nasal tip HP:0011831 rdfs:label nl Gedevieerde neuspunt CANDIDATE +en Deviation from normal concentration of albumin in the blood HP:0012116 IAO:0000115 nl Deviation from normal concentration of albumin in the blood NOT_TRANSLATED +en Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines HP:0030100 IAO:0000115 nl Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED +en Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines HP:0030103 IAO:0000115 nl Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED +en Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines HP:0030105 IAO:0000115 nl Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED +en Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines HP:0030104 IAO:0000115 nl Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines NOT_TRANSLATED +en Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets HP:0030401 IAO:0000115 nl Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets NOT_TRANSLATED +en Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5% HP:0032974 IAO:0000115 nl Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5% NOT_TRANSLATED +en Deviation from the norm of height with respect to that which is expected according to age and gender norms HP:0000002 IAO:0000115 nl Afwijking van de norm van hoogte met betrekking tot wat de verwachting is volgens leeftijds en geslachtsnormen CANDIDATE +en Deviation from the normal concentration of ornithine in the blood circulation HP:0012025 IAO:0000115 nl Deviation from the normal concentration of ornithine in the blood circulation NOT_TRANSLATED +en Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C) HP:0032281 IAO:0000115 nl Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C) NOT_TRANSLATED +en Deviation from the normal range of size of the thalamus HP:0012693 IAO:0000115 nl Deviation from the normal range of size of the thalamus NOT_TRANSLATED +en Deviation from the normal von Willebrand factor multimer pattern HP:0030131 IAO:0000115 nl Deviation from the normal von Willebrand factor multimer pattern NOT_TRANSLATED +en Deviation of finger HP:0004097 rdfs:label nl Deviatie van vinger CANDIDATE +en Deviation of the 2nd finger HP:0009468 rdfs:label nl Deviatie van de 2e vinger CANDIDATE +en Deviation of the 2nd toe HP:0010326 rdfs:label nl Deviatie van de 2e teen CANDIDATE +en Deviation of the 3rd finger HP:0009317 rdfs:label nl Deviatie van de 3e vinger CANDIDATE +en Deviation of the 3rd toe HP:0010332 rdfs:label nl Deviatie van de 3e teen CANDIDATE +en Deviation of the 4th finger HP:0009273 rdfs:label nl Deviatie van de 4e teen CANDIDATE +en Deviation of the 4th toe HP:0010338 rdfs:label nl Deviatie van de 4e teen CANDIDATE +en Deviation of the 5th finger HP:0009179 rdfs:label nl Deviatie van de 5e vinger CANDIDATE +en Deviation of the 5th toe HP:0010344 rdfs:label nl Deviatie van de 5e teen CANDIDATE +en Deviation of the hallux HP:0010051 rdfs:label nl Deviatie van de hallux CANDIDATE +en Deviation of the hand or of fingers of the hand HP:0009484 rdfs:label nl Deviatie van de hand of vingers van de hand CANDIDATE +en Deviation of the thumb HP:0009603 rdfs:label nl Deviatie van de duim CANDIDATE +en Deviation of toes HP:0100498 rdfs:label nl Deviatie van tenen CANDIDATE +en Dexamethasone-suppressible primary hyperaldosteronism HP:0011739 rdfs:label nl Dexamethason-onderdrukbaar primair hyperaldosteronisme CANDIDATE +en Dextrocardia HP:0001651 rdfs:label nl Dextrocardie CANDIDATE +en Dextrotransposition of the great arteries HP:0031348 rdfs:label nl Dextro-transpositie van de grote slagaders CANDIDATE +en Diabetes insipidus HP:0000873 rdfs:label nl Diabetes insipidus CANDIDATE +en Diabetes mellitus HP:0000819 rdfs:label nl Diabetes mellitus CANDIDATE +en Diabetic ketoacidosis HP:0001953 rdfs:label nl Diabetische ketoacidose CANDIDATE +en Diagonal earlobe crease HP:0031511 rdfs:label nl Diagonale oorlel plooi CANDIDATE +en Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees HP:0031511 IAO:0000115 nl Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees NOT_TRANSLATED +en Dialeptic seizure HP:0011146 rdfs:label nl Dialeptic seizure NOT_TRANSLATED +en Diaminoaciduria HP:0008339 rdfs:label nl Diaminoacidurie CANDIDATE +en Diaphragmatic eventration HP:0009110 rdfs:label nl Diafragmatische eventratie CANDIDATE +en Diaphragmatic paralysis HP:0006597 rdfs:label nl Diafragmatische paralyse CANDIDATE +en Diaphragmatic weakness HP:0009113 rdfs:label nl Diafragmatische zwakte CANDIDATE +en Diaphyseal cortical sclerosis HP:0005045 rdfs:label nl Diafysaire corticale sectio caesarea CANDIDATE +en Diaphyseal dysplasia HP:0100252 rdfs:label nl Diafysaire dysplasie CANDIDATE +en Diaphyseal sclerosis HP:0003034 rdfs:label nl Diafysaire sclerose CANDIDATE +en Diaphyseal sclerosis of the upper limbs HP:0003860 rdfs:label nl Diafysaire sclerose van bovenste ledematen CANDIDATE +en Diaphyseal thickening HP:0005019 rdfs:label nl Diafysaire verdikking CANDIDATE +en Diarrhea HP:0002014 rdfs:label nl Diarree CANDIDATE +en Diastasis recti HP:0001540 rdfs:label nl Rectus diastase CANDIDATE +en Diastema HP:0000699 rdfs:label nl Diasteem CANDIDATE +en Diastolic heart murmur HP:0031668 rdfs:label nl Diasystolische souffle CANDIDATE +en Diastomatomyelia HP:0100563 rdfs:label nl Diastematomyelie CANDIDATE +en Dibasicaminoaciduria HP:0003168 rdfs:label nl Dibasische aminoacidurie CANDIDATE +en Dicarboxylic acidemia HP:0040145 rdfs:label nl Dicarboxylische acidemie CANDIDATE +en Dicarboxylic aciduria HP:0003215 rdfs:label nl Dicarboxylische acidurie CANDIDATE +en Dichromacy HP:0011518 rdfs:label nl Dichromasie CANDIDATE +en Diet-resistant subcutaneous adipose tissue HP:0025384 rdfs:label nl Dieet-resistent subcutaan vetweefsel CANDIDATE +en Diet-resistant subcutaneous adipose tissue below waist HP:0025385 rdfs:label nl Dieet-resistent subcutaan vetweefsel onder de middel CANDIDATE +en Difference in length or size between the right and left arm HP:0100560 IAO:0000115 nl Difference in length or size between the right and left arm NOT_TRANSLATED +en Different levels of maturation of different bones HP:0200000 IAO:0000115 nl Different levels of maturation of different bones NOT_TRANSLATED +en Differential cyanosis HP:0034034 rdfs:label nl Differential cyanosis NOT_TRANSLATED +en Differential degree of bluish discoloration between the upper and lower extremities HP:0034034 IAO:0000115 nl Differential degree of bluish discoloration between the upper and lower extremities NOT_TRANSLATED +en Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale HP:0002094 IAO:0000115 nl Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale NOT_TRANSLATED +en Difficulty adjusting from dark to light HP:0030514 rdfs:label nl Moeite met aanpassen van donker naar licht CANDIDATE +en Difficulty adjusting from light to dark HP:0030513 rdfs:label nl Moeite met aanpassen van licht naar donker CANDIDATE +en Difficulty adjusting to changes in luminance HP:0030512 rdfs:label nl Moeite met aanpassen aan veranderingen in luminantie CANDIDATE +en Difficulty climbing stairs HP:0003551 rdfs:label nl Moeite met traplopen CANDIDATE +en Difficulty descending stairs HP:0033235 rdfs:label nl Difficulty descending stairs NOT_TRANSLATED +en Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment HP:0000552 IAO:0000115 nl Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment NOT_TRANSLATED +en Difficulty in beginning the process of urination HP:0000019 IAO:0000115 nl Difficulty in beginning the process of urination NOT_TRANSLATED +en Difficulty in looking at another person in the eye HP:0000817 IAO:0000115 nl Difficulty in looking at another person in the eye NOT_TRANSLATED +en Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure HP:0031058 IAO:0000115 nl Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure NOT_TRANSLATED +en Difficulty in performing the correct execution of limbs movements in absence of motor impairment HP:0030217 IAO:0000115 nl Difficulty in performing the correct execution of limbs movements in absence of motor impairment NOT_TRANSLATED +en Difficulty in recognizing objects by visual input in absence of sensorial visual impairment HP:0030222 IAO:0000115 nl Difficulty in recognizing objects by visual input in absence of sensorial visual impairment NOT_TRANSLATED +en Difficulty in seeing moving objects HP:0030511 IAO:0000115 nl Difficulty in seeing moving objects NOT_TRANSLATED +en Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships HP:0000735 IAO:0000115 nl Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships NOT_TRANSLATED +en Difficulty in swallowing HP:0002015 IAO:0000115 nl Difficulty in swallowing NOT_TRANSLATED +en Difficulty in tongue movements HP:0000183 rdfs:label nl Moeite met bewegingen van de tong CANDIDATE +en Difficulty initiating sleep, that is, increased sleep onset latency HP:0031354 IAO:0000115 nl Difficulty initiating sleep, that is, increased sleep onset latency NOT_TRANSLATED +en Difficulty of a male in achieving orgasm HP:0012878 IAO:0000115 nl Difficulty of a male in achieving orgasm NOT_TRANSLATED +en Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes HP:0034052 IAO:0000115 nl Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes NOT_TRANSLATED +en Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected HP:0031868 IAO:0000115 nl Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected NOT_TRANSLATED +en Difficulty releasing one's grip associated with prolonged first handgrip relaxation times HP:0012899 IAO:0000115 nl Difficulty releasing one's grip associated with prolonged first handgrip relaxation times NOT_TRANSLATED +en Difficulty running HP:0009046 rdfs:label nl Moeite met rennen CANDIDATE +en Difficulty standing HP:0003698 rdfs:label nl Moeite met staan CANDIDATE +en Difficulty to maintain correct position of the head while standing or sitting HP:0002421 IAO:0000115 nl Difficulty to maintain correct position of the head while standing or sitting NOT_TRANSLATED +en Difficulty walking HP:0002355 rdfs:label nl Moeite met lopen CANDIDATE +en Difficulty walking backward HP:0031847 rdfs:label nl Difficulty walking backward NOT_TRANSLATED +en Difficulty with discriminating red and green hues HP:0000642 IAO:0000115 nl Difficulty with discriminating red and green hues NOT_TRANSLATED +en Diffuse HP:0020034 rdfs:label nl Diffuus CANDIDATE +en Diffuse abnormal thickening of the skin on the palms and soles HP:0007447 IAO:0000115 nl Diffuse abnormal thickening of the skin on the palms and soles NOT_TRANSLATED +en Diffuse alveolar damage HP:0033006 rdfs:label nl Diffuse alveolar damage NOT_TRANSLATED +en Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation HP:0033006 IAO:0000115 nl Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation NOT_TRANSLATED +en Diffuse alveolar hemorrhage HP:0025420 rdfs:label nl Diffuse alveolaire bloeding CANDIDATE +en Diffuse axonal swelling HP:0003405 rdfs:label nl Diffuse axonale zwelling CANDIDATE +en Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis HP:0011954 IAO:0000115 nl Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis NOT_TRANSLATED +en Diffuse cerebellar atrophy HP:0100275 rdfs:label nl Diffuse cerebellaire atrofie CANDIDATE +en Diffuse cerebral atrophy HP:0002506 rdfs:label nl Diffuse cerebrale atrofie CANDIDATE +en Diffuse cerebral calcification HP:0005849 rdfs:label nl Diffuse cerebrale calcificatie CANDIDATE +en Diffuse cerebral sclerosis HP:0006918 rdfs:label nl Diffuse cerebrale sclerose CANDIDATE +en Diffuse demyelination of the cerebral white matter HP:0007162 rdfs:label nl Diffuse demyelinisatie van de cerebrale witte stof CANDIDATE +en Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia) HP:0001355 IAO:0000115 nl Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia) NOT_TRANSLATED +en Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present HP:0005942 IAO:0000115 nl Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present NOT_TRANSLATED +en Diffuse hepatic steatosis HP:0006555 rdfs:label nl Diffuse hepatische steatose CANDIDATE +en Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin) HP:0025092 IAO:0000115 nl Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin) NOT_TRANSLATED +en Diffuse leiomyomatosis HP:0006756 rdfs:label nl Diffuse leiomyomatose CANDIDATE +en Diffuse leukoencephalopathy HP:0006994 rdfs:label nl Diffuse leuko-encefalopathie CANDIDATE +en Diffuse lupus nephritis HP:0033727 rdfs:label nl Diffuse lupus nephritis NOT_TRANSLATED +en Diffuse mesangial sclerosis HP:0001967 rdfs:label nl Diffuse mesangiale sclerose CANDIDATE +en Diffuse nuclear cataract HP:0007657 rdfs:label nl Diffuus nucleair cataract CANDIDATE +en Diffuse optic disc pallor HP:0012512 rdfs:label nl Diffuse bleekheid van optische schijf CANDIDATE +en Diffuse palmoplantar hyperkeratosis HP:0007447 rdfs:label nl Diffuse palmoplantaire hyperkeratose CANDIDATE +en Diffuse pancreatic islet hyperplasia HP:0031224 rdfs:label nl Diffuse hyperplasie van de eilandjes van Langerhans CANDIDATE +en Diffuse peripheral demyelination HP:0006881 rdfs:label nl Diffuse perifere demyelinisatie CANDIDATE +en Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper HP:0034271 IAO:0000115 nl Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper NOT_TRANSLATED +en Diffuse reticular or finely nodular infiltrations HP:0002207 rdfs:label nl Diffuse reticulaire of fijne nodulaire infiltraties CANDIDATE +en Diffuse ribbon-like subcortical heterotopia HP:0032393 rdfs:label nl Diffuse ribbon-like subcortical heterotopia NOT_TRANSLATED +en Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion HP:0001967 IAO:0000115 nl Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion NOT_TRANSLATED +en Diffuse skin atrophy HP:0007488 rdfs:label nl Diffuse huid atrofie CANDIDATE +en Diffuse slow skin atrophy HP:0007504 rdfs:label nl Diffuse trage huid atrofie CANDIDATE +en Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0010845 IAO:0000115 nl Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en Diffuse spongiform leukoencephalopathy HP:0006943 rdfs:label nl Diffuse spongiforme leuko-encefalopathie CANDIDATE +en Diffuse subcortical band heterotopia HP:0032413 rdfs:label nl Diffuse subcortical band heterotopia NOT_TRANSLATED +en Diffuse swelling of cerebral white matter HP:0007341 rdfs:label nl Diffuse zwelling van de cerebrale witte stof CANDIDATE +en Diffuse telangiectasia HP:0007489 rdfs:label nl Diffuse teleangiëctasieën CANDIDATE +en Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction HP:0001706 IAO:0000115 nl Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction NOT_TRANSLATED +en Diffuse unlocalised atrophy affecting the cerebellum HP:0100275 IAO:0000115 nl Diffuse unlocalised atrophy affecting the cerebellum NOT_TRANSLATED +en Diffuse unlocalised atrophy affecting the cerebrum HP:0002506 IAO:0000115 nl Diffuse unlocalised atrophy affecting the cerebrum NOT_TRANSLATED +en Diffuse white matter abnormalities HP:0007204 rdfs:label nl Diffuse witte stof afwijkingen CANDIDATE +en Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep HP:0031491 IAO:0000115 nl Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep NOT_TRANSLATED +en Diffusely large eye (with megalocornea) associated with glaucoma HP:0000557 IAO:0000115 nl Diffusely large eye (with megalocornea) associated with glaucoma NOT_TRANSLATED +en Diffusely large eye (with megalocornea) without glaucoma HP:0001090 IAO:0000115 nl Diffusely large eye (with megalocornea) without glaucoma NOT_TRANSLATED +en Diffusely thickened glomerular basement membrane HP:0033284 rdfs:label nl Diffusely thickened glomerular basement membrane NOT_TRANSLATED +en Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations HP:0025012 IAO:0000115 nl Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations NOT_TRANSLATED +en Digenic inheritance HP:0010984 rdfs:label nl Digenetische overerving CANDIDATE +en Digital constriction ring HP:0010491 rdfs:label nl Digital constriction ring NOT_TRANSLATED +en Digital flexor tenosynovitis HP:0012276 rdfs:label nl Vinger flexor tenosynovitis CANDIDATE +en Digital ischemia HP:0033402 rdfs:label nl Digital ischemia NOT_TRANSLATED +en Digital pitting scar HP:0031293 rdfs:label nl Digital pitting scar NOT_TRANSLATED +en Digital ulcer HP:0031917 rdfs:label nl Digital ulcer NOT_TRANSLATED +en Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here HP:0001156 IAO:0000115 nl Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here NOT_TRANSLATED +en Dilatated internal auditory canal HP:0004458 rdfs:label nl Gedilateerde interne gehoorgang CANDIDATE +en Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen HP:0032622 IAO:0000115 nl Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen NOT_TRANSLATED +en Dilatation of Inferior mesenteric artery HP:0100860 rdfs:label nl Dilatatie van arteria mesenterica inferior CANDIDATE +en Dilatation of an abdominal artery HP:0002636 rdfs:label nl Dilatatie van een abdominale slagader CANDIDATE +en Dilatation of celiac artery HP:0100858 rdfs:label nl Dilatatie van truncus coeliacus CANDIDATE +en Dilatation of large choroidal vessels HP:0030979 rdfs:label nl Dilatatie van de grote choroïdale vaten CANDIDATE +en Dilatation of mesenteric artery HP:0011934 rdfs:label nl Dilatatie van arteria mesenterica CANDIDATE +en Dilatation of renal calices HP:0100581 rdfs:label nl Dilatatie van nierkelken CANDIDATE +en Dilatation of small blood vessels of the retina HP:0007763 IAO:0000115 nl Dilatation of small blood vessels of the retina NOT_TRANSLATED +en Dilatation of superior mesenteric artery HP:0100859 rdfs:label nl Dilatatie van arteria mesenterica superior CANDIDATE +en Dilatation of the bladder HP:0010955 rdfs:label nl Dilatatie van de blaas CANDIDATE +en Dilatation of the bladder postnatally HP:0000021 IAO:0000115 nl Dilatation of the bladder postnatally NOT_TRANSLATED +en Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera HP:0030953 IAO:0000115 nl Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera NOT_TRANSLATED +en Dilatation of the cerebral artery HP:0004944 rdfs:label nl Dilatatie van de cerebrale arterie CANDIDATE +en Dilatation of the ductus arteriosus HP:0030745 rdfs:label nl Dilatatie van de ductus arteriosus CANDIDATE +en Dilatation of the mitral annulus HP:0031479 rdfs:label nl Dilatatie van de mitralisannulus CANDIDATE +en Dilatation of the renal pelvis HP:0010946 rdfs:label nl Dilatatie van het nierbekken CANDIDATE +en Dilatation of the sinus of Valsalva HP:0011645 rdfs:label nl Dilatatie van de sinus van Valsalva CANDIDATE +en Dilatation of the tricuspid annulus HP:0031444 rdfs:label nl Dilatation of the tricuspid annulus NOT_TRANSLATED +en Dilatation of the ventricular cavity HP:0006698 rdfs:label nl Dilatatie van ventriculaire holte CANDIDATE +en Dilatation of the vestibule of the inner ear HP:0011379 IAO:0000115 nl Dilatation of the vestibule of the inner ear NOT_TRANSLATED +en Dilated cardiomyopathy HP:0001644 rdfs:label nl Verwijde cardiomyopathie CANDIDATE +en Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis HP:0001644 IAO:0000115 nl Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis NOT_TRANSLATED +en Dilated fourth ventricle HP:0002198 rdfs:label nl Gedilateerd vierde ventrikel CANDIDATE +en Dilated left subclavian artery HP:0031252 rdfs:label nl Verwijde linker arteria subclavia CANDIDATE +en Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border HP:0032962 IAO:0000115 nl Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border NOT_TRANSLATED +en Dilated superficial abdominal veins HP:0030168 rdfs:label nl Verwijde oppervlakkige antibioticum aderen CANDIDATE +en Dilated third ventricle HP:0007082 rdfs:label nl Gedilateerd derde ventrikel CANDIDATE +en Dilated vas deferens HP:0034478 rdfs:label nl Dilated vas deferens NOT_TRANSLATED +en Dilated vestibule of the inner ear HP:0011379 rdfs:label nl Verwijd vestibulum van het binnenoor CANDIDATE +en Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord HP:0003396 IAO:0000115 nl Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord NOT_TRANSLATED +en Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum HP:0030996 IAO:0000115 nl Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum NOT_TRANSLATED +en Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa HP:0030723 IAO:0000115 nl Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa NOT_TRANSLATED +en Dilation of Virchow-Robin spaces HP:0012520 rdfs:label nl Perivasculaire ruimten CANDIDATE +en Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo HP:0100565 IAO:0000115 nl Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo NOT_TRANSLATED +en Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma HP:0031842 IAO:0000115 nl Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma NOT_TRANSLATED +en Diminished ability to concentrate HP:0031987 rdfs:label nl Diminished ability to concentrate NOT_TRANSLATED +en Diminished activity of the enzyme beta-hexosaminidase in the blood circulation HP:0033978 IAO:0000115 nl Diminished activity of the enzyme beta-hexosaminidase in the blood circulation NOT_TRANSLATED +en Diminished activity of the enzyne aconitase in muscle tissue HP:0034511 IAO:0000115 nl Diminished activity of the enzyne aconitase in muscle tissue NOT_TRANSLATED +en Diminished amniotic fluid volume in pregnancy HP:0001562 IAO:0000115 nl Diminished amniotic fluid volume in pregnancy NOT_TRANSLATED +en Diminished enzyme activity of galactocerebrosidase HP:0034322 IAO:0000115 nl Diminished enzyme activity of galactocerebrosidase NOT_TRANSLATED +en Diminished health-related quality of life HP:0033665 rdfs:label nl Diminished health-related quality of life NOT_TRANSLATED +en Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe HP:0010743 IAO:0000115 nl Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe NOT_TRANSLATED +en Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal HP:0010049 IAO:0000115 nl Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal NOT_TRANSLATED +en Diminished length of the neck HP:0000470 IAO:0000115 nl Diminished length of the neck NOT_TRANSLATED +en Diminished mental health HP:0033667 rdfs:label nl Diminished mental health NOT_TRANSLATED +en Diminished motivation HP:0000745 rdfs:label nl Verminderde motivatie CANDIDATE +en Diminished movement HP:0002374 rdfs:label nl Verminderde beweging CANDIDATE +en Diminished physical functioning HP:0033666 rdfs:label nl Diminished physical functioning NOT_TRANSLATED +en Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease HP:0001315 IAO:0000115 nl Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease NOT_TRANSLATED +en Dimple chin HP:0010751 rdfs:label nl Dimple chin NOT_TRANSLATED +en Dimple on nasal tip HP:0004132 rdfs:label nl Dimpel op neuspunt CANDIDATE +en Diplomyelia HP:0100562 rdfs:label nl Diplomyelie CANDIDATE +en Diplopia HP:0000651 rdfs:label nl Diplopie CANDIDATE +en Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision HP:0000651 IAO:0000115 nl Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision NOT_TRANSLATED +en Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves HP:0025071 IAO:0000115 nl Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves NOT_TRANSLATED +en Disc kidney HP:0034233 rdfs:label nl Disc kidney NOT_TRANSLATED +en Disc-like vertebral bodies HP:0004591 rdfs:label nl Disc-like vertebral bodies NOT_TRANSLATED +en Disciform macular scar HP:0025094 rdfs:label nl Discusvormig macula litteken CANDIDATE +en Discoid lupus rash HP:0007417 rdfs:label nl Discoïde lupusuitslag CANDIDATE +en Discolored lateral incisors HP:0006290 rdfs:label nl Verkleurde laterale snijtanden CANDIDATE +en Discontinuity in the convexity of the inferior margin of the lobe HP:0011265 IAO:0000115 nl Discontinuity in the convexity of the inferior margin of the lobe NOT_TRANSLATED +en Discontinuous ascending root of helix HP:0011264 rdfs:label nl Discontinuous ascending root of helix NOT_TRANSLATED +en Discordant atrioventricular connection HP:0011553 rdfs:label nl Discordante atrioventriculaire verbinding CANDIDATE +en Discrete 2 to 5-mm hyper- and hypopigmented macules HP:0007494 rdfs:label nl Discrete 2-5 mm gehyper- en hypopigmenteerde maculae CANDIDATE +en Discrete intestinal polyps HP:0005238 rdfs:label nl Discrete intestinale poliepen CANDIDATE +en Disease remission HP:0034382 rdfs:label nl Disease remission NOT_TRANSLATED +en Disharmonious carpal bone HP:0006153 rdfs:label nl Disharmonieus carpaal bot CANDIDATE +en Disinhibition HP:0000734 rdfs:label nl Disinhibitie CANDIDATE +en Diskitis HP:0025679 rdfs:label nl Diskitis NOT_TRANSLATED +en Dislocated radial head HP:0003083 rdfs:label nl Ontwricht radiuskopje CANDIDATE +en Dislocated wrist HP:0003994 rdfs:label nl Gedisloceerde pols CANDIDATE +en Dislocation of a given joint repeated times HP:0031869 IAO:0000115 nl Dislocation of a given joint repeated times NOT_TRANSLATED +en Dislocation of many joints HP:0012095 IAO:0000115 nl Dislocation of many joints NOT_TRANSLATED +en Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet HP:0003042 IAO:0000115 nl Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet NOT_TRANSLATED +en Dislocation of the femoral head HP:0008826 rdfs:label nl Dislocatie femurkop CANDIDATE +en Dislocation of toes HP:0008141 rdfs:label nl Dislocatie van tenen CANDIDATE +en Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation HP:0001083 IAO:0000115 nl Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation NOT_TRANSLATED +en Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature HP:0005968 IAO:0000115 nl Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature NOT_TRANSLATED +en Disorganization of the anterior cerebellar vermis HP:0007065 rdfs:label nl Disorganisatie van de anterieure vermis CANDIDATE +en Displaced fracture HP:4000053 rdfs:label nl Displaced fracture NOT_TRANSLATED +en Displaced lobar tracheal bronchus HP:0033618 rdfs:label nl Displaced lobar tracheal bronchus NOT_TRANSLATED +en Displaced tracheal bronchus HP:0033615 rdfs:label nl Displaced tracheal bronchus NOT_TRANSLATED +en Displacement of the 2nd (index) finger towards the ulnar side HP:0009464 IAO:0000115 nl Displacement of the 2nd (index) finger towards the ulnar side NOT_TRANSLATED +en Displacement of the 2nd finger from its normal position HP:0009468 IAO:0000115 nl Displacement of the 2nd finger from its normal position NOT_TRANSLATED +en Displacement of the 2nd finger towards the radial side HP:0009467 IAO:0000115 nl Displacement of the 2nd finger towards the radial side NOT_TRANSLATED +en Displacement of the 3rd finger from its normal position HP:0009317 IAO:0000115 nl Displacement of the 3rd finger from its normal position NOT_TRANSLATED +en Displacement of the 3rd finger towards the radial side (i.e., towards the thumb) HP:0009462 IAO:0000115 nl Displacement of the 3rd finger towards the radial side (i.e., towards the thumb) NOT_TRANSLATED +en Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger) HP:0009463 IAO:0000115 nl Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger) NOT_TRANSLATED +en Displacement of the 4th finger from its normal position HP:0009273 IAO:0000115 nl Displacement of the 4th finger from its normal position NOT_TRANSLATED +en Displacement of the 4th finger towards the radial side (i.e., towards the thumb) HP:0009279 IAO:0000115 nl Displacement of the 4th finger towards the radial side (i.e., towards the thumb) NOT_TRANSLATED +en Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger) HP:0009278 IAO:0000115 nl Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger) NOT_TRANSLATED +en Displacement of the 5th finger from its normal position HP:0009179 IAO:0000115 nl Displacement of the 5th finger from its normal position NOT_TRANSLATED +en Displacement of the 5th finger towards the ulnar side HP:0009180 IAO:0000115 nl Displacement of the 5th finger towards the ulnar side NOT_TRANSLATED +en Displacement of the big toe from its normal position HP:0010051 IAO:0000115 nl Displacement of the big toe from its normal position NOT_TRANSLATED +en Displacement of the femur from its normal location in the hip joint HP:0002827 IAO:0000115 nl Displacement of the femur from its normal location in the hip joint NOT_TRANSLATED +en Displacement of the hand or of fingers of the hand from their normal position HP:0009484 IAO:0000115 nl Displacement of the hand or of fingers of the hand from their normal position NOT_TRANSLATED +en Displacement of the heart outside the thoracic cavity and into the abdomen HP:0011582 IAO:0000115 nl Displacement of the heart outside the thoracic cavity and into the abdomen NOT_TRANSLATED +en Displacement of the papillary muscles HP:0025447 rdfs:label nl Verplaatsing van de papillairspieren CANDIDATE +en Displacement of the thumb from its normal position HP:0009603 IAO:0000115 nl Displacement of the thumb from its normal position NOT_TRANSLATED +en Displacement of the urethral meatus HP:0100627 rdfs:label nl Verplaatsing van de externe urethrale meatus CANDIDATE +en Displacement or malalignment of joints HP:0001373 IAO:0000115 nl Displacement or malalignment of joints NOT_TRANSLATED +en Displacement or malalignment of one or more joints in the lower extremity (leg) HP:0030311 IAO:0000115 nl Displacement or malalignment of one or more joints in the lower extremity (leg) NOT_TRANSLATED +en Displacement or malalignment of one or more joints in the upper extremity (arm) HP:0030310 IAO:0000115 nl Displacement or malalignment of one or more joints in the upper extremity (arm) NOT_TRANSLATED +en Disproportionate prominence of the femoral medial condyle HP:0006437 rdfs:label nl Disproportionele prominentie van de mediale femurcondyl CANDIDATE +en Disproportionate short stature HP:0003498 rdfs:label nl Disproportionele kleine lengte CANDIDATE +en Disproportionate short-limb short stature HP:0008873 rdfs:label nl Disproportionele korte-ledemaat kleine lengte CANDIDATE +en Disproportionate short-trunk short stature HP:0003521 rdfs:label nl Disproportionele korte-romp kleine lengte CANDIDATE +en Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus) HP:0008905 IAO:0000115 nl Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus) NOT_TRANSLATED +en Disproportionate shortening of the proximal segment of the arm (i.e. the humerus) HP:0004991 IAO:0000115 nl Disproportionate shortening of the proximal segment of the arm (i.e. the humerus) NOT_TRANSLATED +en Disproportionate shortening of the proximal segment of the leg (i.e. the femur) HP:0012106 IAO:0000115 nl Disproportionate shortening of the proximal segment of the leg (i.e. the femur) NOT_TRANSLATED +en Disproportionate shortening of the tibia HP:0005766 rdfs:label nl Disproportionele verkorting van de tibia CANDIDATE +en Disproportionate tall stature HP:0001519 rdfs:label nl Disproportionele lange lengte CANDIDATE +en Disproportionately large eyelids HP:0034428 IAO:0000115 nl Disproportionately large eyelids NOT_TRANSLATED +en Disproportionately long fibulae HP:0003085 IAO:0000115 nl Disproportionately long fibulae NOT_TRANSLATED +en Disproportionately short middle and distal phalanges compared to the hand/foot HP:0005872 IAO:0000115 nl Disproportionately short middle and distal phalanges compared to the hand/foot NOT_TRANSLATED +en Disproportionately small hand HP:0200055 IAO:0000115 nl Disproportionately small hand NOT_TRANSLATED +en Disruption of the epithelial layer of the cornea with involvement of the underlying stroma HP:0012804 IAO:0000115 nl Disruption of the epithelial layer of the cornea with involvement of the underlying stroma NOT_TRANSLATED +en Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds HP:0025268 IAO:0000115 nl Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds NOT_TRANSLATED +en Disseminated cryptosporidium infection HP:0031699 rdfs:label nl Gedissemineerde cryptosporidium-infectie CANDIDATE +en Disseminated cutaneous warts HP:0032215 rdfs:label nl Disseminated cutaneous warts NOT_TRANSLATED +en Disseminated dermatophytosis HP:0032518 rdfs:label nl Disseminated dermatophytosis NOT_TRANSLATED +en Disseminated histoplasmosis HP:0032257 rdfs:label nl Disseminated histoplasmosis NOT_TRANSLATED +en Disseminated infection with live vaccine virus HP:0031697 rdfs:label nl Gedissemineerde infectie met levend vaccinvirus CANDIDATE +en Disseminated intravascular coagulation HP:0005521 rdfs:label nl Diffuse intravasale stolling CANDIDATE +en Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels HP:0005521 IAO:0000115 nl Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels NOT_TRANSLATED +en Disseminated molluscum contagiosum HP:0032185 rdfs:label nl Disseminated molluscum contagiosum NOT_TRANSLATED +en Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping HP:0002833 IAO:0000115 nl Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping NOT_TRANSLATED +en Disseminated nontuberculous mycobacterial infection HP:0032283 rdfs:label nl Disseminated nontuberculous mycobacterial infection NOT_TRANSLATED +en Disseminated viral infection HP:0031696 rdfs:label nl Gedissemineerde virale infectie CANDIDATE +en Dissociated horizontal deviation HP:0500075 rdfs:label nl Dissociated horizontal deviation NOT_TRANSLATED +en Dissociated sensory loss HP:0010835 rdfs:label nl Gedissocieerd sensorisch verlies CANDIDATE +en Dissociated vertical deviation HP:0500074 rdfs:label nl Dissociated vertical deviation NOT_TRANSLATED +en Dissociative reaction HP:0032940 rdfs:label nl Dissociative reaction NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of one or more phalanges of the thumb HP:0009654 IAO:0000115 nl Dissolution or degeneration of bone tissue of one or more phalanges of the thumb NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the 1st metacarpal HP:0010030 IAO:0000115 nl Dissolution or degeneration of bone tissue of the 1st metacarpal NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger HP:0009561 IAO:0000115 nl Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger HP:0009424 IAO:0000115 nl Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger HP:0009303 IAO:0000115 nl Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger HP:0009242 IAO:0000115 nl Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the distal phalanx of the thumb HP:0009645 IAO:0000115 nl Dissolution or degeneration of bone tissue of the distal phalanx of the thumb NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the first metatarsal HP:0010071 IAO:0000115 nl Dissolution or degeneration of bone tissue of the first metatarsal NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger HP:0009572 IAO:0000115 nl Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger HP:0009433 IAO:0000115 nl Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger HP:0009297 IAO:0000115 nl Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger HP:0009170 IAO:0000115 nl Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger HP:0009443 IAO:0000115 nl Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the phalanges of the 5th finger HP:0004216 IAO:0000115 nl Dissolution or degeneration of bone tissue of the phalanges of the 5th finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the phalanges of the hand HP:0009771 IAO:0000115 nl Dissolution or degeneration of bone tissue of the phalanges of the hand NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger HP:0009584 IAO:0000115 nl Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger HP:0009453 IAO:0000115 nl Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger HP:0009312 IAO:0000115 nl Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger HP:0009230 IAO:0000115 nl Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb HP:0009633 IAO:0000115 nl Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb NOT_TRANSLATED +en Dissolution or degeneration of bone tissue of the proximal toe phalanx HP:0010207 IAO:0000115 nl Dissolution or degeneration of bone tissue of the proximal toe phalanx NOT_TRANSLATED +en Distal HP:0012839 rdfs:label nl Distaal CANDIDATE +en Distal amyotrophy HP:0003693 rdfs:label nl Distale amyotrofie CANDIDATE +en Distal aortic arch hypoplasia HP:0034229 rdfs:label nl Distal aortic arch hypoplasia NOT_TRANSLATED +en Distal arthrogryposis HP:0005684 rdfs:label nl Distale arthrogrypose CANDIDATE +en Distal clavicular thinning HP:0025681 rdfs:label nl Distal clavicular thinning NOT_TRANSLATED +en Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs HP:0010252 IAO:0000115 nl Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en Distal femoral bowing HP:0005096 rdfs:label nl Bowing van distale femur CANDIDATE +en Distal femoral metaphyseal abnormality HP:0030299 rdfs:label nl Distale femorale metafysaire afwijking CANDIDATE +en Distal femoral metaphyseal irregularity HP:0045079 rdfs:label nl Distale metafyse van femur onregelmatigheid CANDIDATE +en Distal foot symphalangism HP:0001859 rdfs:label nl Symfalangisme van de distale voet CANDIDATE +en Distal humeral metaphyseal irregularity HP:0003951 rdfs:label nl Distale metafyse van humerus onregelmatigheid CANDIDATE +en Distal ileal atresia HP:0200116 rdfs:label nl Distale ileale atresie CANDIDATE +en Distal joint laxity HP:0020152 rdfs:label nl Distal joint laxity NOT_TRANSLATED +en Distal lower limb amyotrophy HP:0008944 rdfs:label nl Distale onderste extremiteit amyotrofie CANDIDATE +en Distal lower limb muscle weakness HP:0009053 rdfs:label nl Spierzwakte van de distale onderste extremiteit CANDIDATE +en Distal muscle weakness HP:0002460 rdfs:label nl Distale spierzwakte CANDIDATE +en Distal peripheral sensory neuropathy HP:0007067 rdfs:label nl Distale perifere sensorische neuropathie CANDIDATE +en Distal radial epiphyseal osteolysis HP:0006449 rdfs:label nl Osteolyse van distale epifyse van radius CANDIDATE +en Distal renal tubular acidosis HP:0008341 rdfs:label nl Distale renale tubulaire acidose CANDIDATE +en Distal sensory impairment HP:0002936 rdfs:label nl Distale sensorische verslechtering CANDIDATE +en Distal sensory impairment of all modalities HP:0003409 rdfs:label nl Distaal sensorische stoornis van alle modaliteiten CANDIDATE +en Distal shortening of limbs HP:0006402 rdfs:label nl Distale verkorting van ledematen CANDIDATE +en Distal symphalangism HP:0100263 rdfs:label nl Distaal symfalangisme CANDIDATE +en Distal symphalangism of hands HP:0001204 rdfs:label nl Distaal symfalangisme van handen CANDIDATE +en Distal tapering femur HP:0006408 rdfs:label nl Distal tapering femur NOT_TRANSLATED +en Distal tapering of metatarsals HP:0008133 rdfs:label nl Distal tapering of metatarsals NOT_TRANSLATED +en Distal tibial bowing HP:0006414 rdfs:label nl Bowing van distale tibia CANDIDATE +en Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance HP:0032568 IAO:0000115 nl Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance NOT_TRANSLATED +en Distal ulnar epiphyseal stippling HP:0006370 rdfs:label nl Distale ulnaire epifysaire vlekkerige calcificaties CANDIDATE +en Distal ulnar hypoplasia HP:0005033 rdfs:label nl Distale ulnaire hypoplasie CANDIDATE +en Distal upper limb amyotrophy HP:0007149 rdfs:label nl Distale bovenste extremiteit amyotrofie CANDIDATE +en Distal upper limb muscle hypertrophy HP:0040267 rdfs:label nl Distale bovenste extremiteit hypertrofie CANDIDATE +en Distal upper limb muscle weakness HP:0008959 rdfs:label nl Spierzwakte van de distale bovenste extremiteit CANDIDATE +en Distal urethral duplication HP:0008706 rdfs:label nl Distale urethrale duplicatie CANDIDATE +en Distal widening of metacarpals HP:0006048 rdfs:label nl Distale verwijding van metacarpalen CANDIDATE +en Distal/middle symphalangism of 2nd finger HP:0009563 rdfs:label nl Symfalangisme van het distale/middelste falanx van de 2e vinger CANDIDATE +en Distal/middle symphalangism of 3rd finger HP:0009426 rdfs:label nl Symfalangisme van het distale/middelste falanx van de 3e vinger CANDIDATE +en Distal/middle symphalangism of 4th finger HP:0009305 rdfs:label nl Symfalangisme van het distale/middelste falanx van de 4e vinger CANDIDATE +en Distal/middle symphalangism of 5th finger HP:0009244 rdfs:label nl Symfalangisme van het distale/middelste falanx van de 5e vinger CANDIDATE +en Distally placed thumb HP:0009622 rdfs:label nl Distaal geplaatste duim CANDIDATE +en Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age HP:0030265 IAO:0000115 nl Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age NOT_TRANSLATED +en Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures HP:0000637 IAO:0000115 nl Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures NOT_TRANSLATED +en Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border HP:0000343 IAO:0000115 nl Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border NOT_TRANSLATED +en Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border HP:0000322 IAO:0000115 nl Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border NOT_TRANSLATED +en Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip HP:0000448 IAO:0000115 nl Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip NOT_TRANSLATED +en Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective) HP:0000160 IAO:0000115 nl Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective) NOT_TRANSLATED +en Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella HP:0009890 IAO:0000115 nl Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella NOT_TRANSLATED +en Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella HP:0000294 IAO:0000115 nl Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella NOT_TRANSLATED +en Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi HP:0000506 IAO:0000115 nl Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi NOT_TRANSLATED +en Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective) HP:0010290 IAO:0000115 nl Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective) NOT_TRANSLATED +en Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures HP:0012745 IAO:0000115 nl Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures NOT_TRANSLATED +en Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective) HP:0000154 IAO:0000115 nl Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective) NOT_TRANSLATED +en Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum HP:0000289 IAO:0000115 nl Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum NOT_TRANSLATED +en Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum HP:0011829 IAO:0000115 nl Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum NOT_TRANSLATED +en Distance esotropia HP:0031762 rdfs:label nl Afstands esoptropie CANDIDATE +en Distance exotropia HP:0031714 rdfs:label nl Distance exotropia NOT_TRANSLATED +en Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base HP:0003189 IAO:0000115 nl Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base NOT_TRANSLATED +en Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip HP:0003196 IAO:0000115 nl Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip NOT_TRANSLATED +en Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis HP:0020087 IAO:0000115 nl Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis NOT_TRANSLATED +en Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins HP:0025203 IAO:0000115 nl Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins NOT_TRANSLATED +en Distended jugular lymphatic sacs HP:0025701 rdfs:label nl Distended jugular lymphatic sacs NOT_TRANSLATED +en Distention of the abdomen HP:0003270 IAO:0000115 nl Distention of the abdomen NOT_TRANSLATED +en Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction HP:0030711 IAO:0000115 nl Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction NOT_TRANSLATED +en Distichiasis HP:0009743 rdfs:label nl Distichiasis CANDIDATE +en Distinctive finding HP:0045089 rdfs:label nl Distinctive finding NOT_TRANSLATED +en Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts HP:0032969 IAO:0000115 nl Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts NOT_TRANSLATED +en Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds HP:0009901 IAO:0000115 nl Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds NOT_TRANSLATED +en Distributed along Blaschko lines HP:0025293 rdfs:label nl Gedistribueerd langs Blaschko lijnen CANDIDATE +en Distributed along skin tension lines HP:0034433 rdfs:label nl Distributed along skin tension lines NOT_TRANSLATED +en Distributive shock HP:0031275 rdfs:label nl Distributieve shock CANDIDATE +en Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria HP:0012723 IAO:0000115 nl Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria NOT_TRANSLATED +en Disturbance of facial expression HP:0005324 rdfs:label nl Verstoorde faciale expressie CANDIDATE +en Diurnal HP:0025302 rdfs:label nl Dagelijks CANDIDATE +en Divergence nystagmus HP:0030691 rdfs:label nl Divergentie nystagmus CANDIDATE +en Divergence of digits along the A/P axis (in the plane of the palm) HP:0030029 IAO:0000115 nl Divergence of digits along the A/P axis (in the plane of the palm) NOT_TRANSLATED +en Divergence of digits along the anteroposterior axis (in the plane of the sole) HP:0011307 IAO:0000115 nl Divergence of digits along the anteroposterior axis (in the plane of the sole) NOT_TRANSLATED +en Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger) HP:0009487 IAO:0000115 nl Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger) NOT_TRANSLATED +en Diverticulosis of trachea HP:0006509 rdfs:label nl Diverticulosis van de trachea CANDIDATE +en Diverticulum (sac or pouch) in the wall of the urinary bladder HP:0000015 IAO:0000115 nl Diverticulum (sac or pouch) in the wall of the urinary bladder NOT_TRANSLATED +en Dminished sexual desire in female HP:0030018 IAO:0000115 nl Dminished sexual desire in female NOT_TRANSLATED +en Dolichocephaly HP:0000268 rdfs:label nl Dolichocefalie CANDIDATE +en Doll-like facies HP:0000295 rdfs:label nl Popachtig gelaat CANDIDATE +en Dorsal column degeneration HP:0007006 rdfs:label nl Dorsale kolom degeneratie CANDIDATE +en Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe) HP:0030181 IAO:0000115 nl Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe) NOT_TRANSLATED +en Dorsal hirsutism HP:0034042 rdfs:label nl Dorsal hirsutism NOT_TRANSLATED +en Dorsal subluxation of ulna HP:0006459 rdfs:label nl Dorsale subluxatie van ulna CANDIDATE +en Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe) HP:0030180 IAO:0000115 nl Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe) NOT_TRANSLATED +en Dorsocervical fat pad HP:0025383 rdfs:label nl Dorsocervicale fat pad CANDIDATE +en Dot-and-blot retinal hemorrhage HP:0025242 rdfs:label nl Dot-and-blot retinal hemorrhage NOT_TRANSLATED +en Double aortic arch HP:0011590 rdfs:label nl Dubbele aortaboog CANDIDATE +en Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM HP:0033323 IAO:0000115 nl Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM NOT_TRANSLATED +en Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM HP:0033322 IAO:0000115 nl Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM NOT_TRANSLATED +en Double depressor palsy HP:0020042 rdfs:label nl Double depressor palsy NOT_TRANSLATED +en Double elevator palsy HP:0020041 rdfs:label nl Double elevator palsy NOT_TRANSLATED +en Double eyebrow HP:0010730 rdfs:label nl Dubbele wenkbrauw CANDIDATE +en Double first metacarpals HP:0005894 rdfs:label nl Dubbele eerste metacarpalen CANDIDATE +en Double inlet atrioventricular connection HP:0011554 rdfs:label nl Doulbe inlet atrioventriculaire verbinding CANDIDATE +en Double inlet left ventricle HP:0011555 rdfs:label nl Double inlet-linkerventrikel CANDIDATE +en Double inlet right ventricle HP:0011556 rdfs:label nl Double inlet rechterventrikel CANDIDATE +en Double inlet to single ventricle of indeterminate morphology HP:0011557 rdfs:label nl Double outlet naar enkel ventrikel van onbepaalde morfologie CANDIDATE +en Double inlet to single ventricle with common atrioventricular orifice HP:0011558 rdfs:label nl Double outlet naar enkel ventrikel met gemeenschappelijke atrioventriculaire opening CANDIDATE +en Double inlet to single ventricle with two atrioventricular valves HP:0011559 rdfs:label nl Double outlet naar enkel ventrikel met twee atrioventriculaire kleppen CANDIDATE +en Double orifice mitral valve HP:0011568 rdfs:label nl Dubbele opening mitralisklep CANDIDATE +en Double outlet left ventricle HP:0011581 rdfs:label nl Double outlet-linkerventrikel CANDIDATE +en Double outlet right ventricle HP:0001719 rdfs:label nl Dubbele uitlaat rechterventrikel CANDIDATE +en Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle HP:0001719 IAO:0000115 nl Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle NOT_TRANSLATED +en Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis HP:0011651 rdfs:label nl Double outlet rechterventrikel met doubly-commited ventrikelseptumdefect en pulmonale stenose CANDIDATE +en Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis HP:0011652 rdfs:label nl Double outlet rechterventrikel met doubly-commited ventrikelseptumdefect zonder pulmonale stenose CANDIDATE +en Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis HP:0011653 rdfs:label nl Double outlet rechterventrikel met niet-doubly-commited ventrikelseptumdefect en pulmonale stenose CANDIDATE +en Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis HP:0011654 rdfs:label nl Double outlet rechterventrikel met niet-doubly-commited ventrikelseptumdefect zonder pulmonale stenose CANDIDATE +en Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis HP:0011655 rdfs:label nl Double outlet rechterventrikel met subaortisch ventrikelseptumdefect en pulmonale stenose CANDIDATE +en Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis HP:0011656 rdfs:label nl Double outlet rechterventrikel met subaortisch ventrikelseptumdefect zonder pulmonale stenose CANDIDATE +en Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis HP:0011657 rdfs:label nl Double outlet rechterventrikel met subpulmonaal ventrikelseptumdefect en pulmonale stenose CANDIDATE +en Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis HP:0011658 rdfs:label nl Double outlet rechterventrikel met subpulmonaal ventrikelseptumdefect zonder pulmonale stenose CANDIDATE +en Double rather than single peak of the antitragus HP:0011250 IAO:0000115 nl Double rather than single peak of the antitragus NOT_TRANSLATED +en Double rows of eyelashes HP:0009743 IAO:0000115 nl Double rows of eyelashes NOT_TRANSLATED +en Double tooth HP:0011089 rdfs:label nl Dubbele tand CANDIDATE +en Double-layered patella HP:0031174 rdfs:label nl Dubbelgelaagde patella CANDIDATE +en Down-sloping shoulders HP:0200021 rdfs:label nl Afhangende schouders CANDIDATE +en Downbeat nystagmus HP:0010545 rdfs:label nl Downbeat nystagmus NOT_TRANSLATED +en Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone HP:0010545 IAO:0000115 nl Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone NOT_TRANSLATED +en Downgaze palsy HP:0025330 rdfs:label nl Downgaze palsy NOT_TRANSLATED +en Downslanted palpebral fissures HP:0000494 rdfs:label nl Schuin naar beneden lopende ooglidspleten CANDIDATE +en Downturned corners of mouth HP:0002714 rdfs:label nl Naar beneden gebogen mondhoeken CANDIDATE +en Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree HP:0025008 IAO:0000115 nl Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree NOT_TRANSLATED +en Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose HP:0030998 IAO:0000115 nl Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose NOT_TRANSLATED +en Drooling HP:0002307 rdfs:label nl Kwijlen CANDIDATE +en Drooping of the upper eyebrow below the superior orbital rim HP:0031623 IAO:0000115 nl Drooping of the upper eyebrow below the superior orbital rim NOT_TRANSLATED +en Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation HP:0034273 IAO:0000115 nl Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation NOT_TRANSLATED +en Drowsiness HP:0002329 rdfs:label nl Slaperigheid CANDIDATE +en Drug addiction HP:0033511 rdfs:label nl Drug addiction NOT_TRANSLATED +en Drug allergy HP:0410323 rdfs:label nl Drug allergy NOT_TRANSLATED +en Drug-induced agranulocytosis HP:0012235 rdfs:label nl Medicijn-geïnduceerde agranulocytose CANDIDATE +en Drug-induced anaphylaxis HP:0410149 rdfs:label nl Drug-induced anaphylaxis NOT_TRANSLATED +en Drug-sensitive hemolytic anemia HP:0004817 rdfs:label nl Medicijn-gevoelige hemolytische anemie CANDIDATE +en Drumstick terminal phalanges HP:0006129 rdfs:label nl Terminale trommelstok falangen CANDIDATE +en Drusen HP:0011510 rdfs:label nl Drusen CANDIDATE +en Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye HP:0011510 IAO:0000115 nl Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye NOT_TRANSLATED +en Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula HP:0030499 IAO:0000115 nl Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula NOT_TRANSLATED +en Dry hair HP:0011359 rdfs:label nl Droog haar CANDIDATE +en Dry nipple HP:0031509 rdfs:label nl Droge tepel CANDIDATE +en Dry skin HP:0000958 rdfs:label nl Droge huid CANDIDATE +en Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids HP:0001097 IAO:0000115 nl Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids NOT_TRANSLATED +en Dryness of the mouth due to salivary gland dysfunction HP:0000217 IAO:0000115 nl Dryness of the mouth due to salivary gland dysfunction NOT_TRANSLATED +en Duane anomaly HP:0009921 rdfs:label nl Duane syndroom CANDIDATE +en Ductal bile plugs HP:0034294 rdfs:label nl Ductal bile plugs NOT_TRANSLATED +en Ductal carcinoma in situ HP:0030075 rdfs:label nl Ductaal carcinoma in situ CANDIDATE +en Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end HP:0030745 IAO:0000115 nl Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end NOT_TRANSLATED +en Ductus venosus agenesis HP:0034196 rdfs:label nl Ductus venosus agenesis NOT_TRANSLATED +en Duffy Fya positivity HP:0032374 rdfs:label nl Duffy Fya positivity NOT_TRANSLATED +en Duffy Fyb positivity HP:0032375 rdfs:label nl Duffy Fyb positivity NOT_TRANSLATED +en Duffy blood group HP:0032373 rdfs:label nl Duffy blood group NOT_TRANSLATED +en Dull HP:0025282 rdfs:label nl Saai CANDIDATE +en Dull foveal reflex HP:0034362 rdfs:label nl Dull foveal reflex NOT_TRANSLATED +en Dumbbell-shaped femur HP:0006375 rdfs:label nl Halter-vormig femur CANDIDATE +en Dumbbell-shaped humerus HP:0005009 rdfs:label nl Halter-vormige humerus CANDIDATE +en Dumbbell-shaped long bone HP:0000947 rdfs:label nl Halter-vormig lang bot CANDIDATE +en Dumbbell-shaped metaphyses HP:0002810 rdfs:label nl Halter-vormige metafyses CANDIDATE +en Duodenal adenocarcinoma HP:0006771 rdfs:label nl Duodenaal adenocarcinoom CANDIDATE +en Duodenal aganglionosis HP:0011465 rdfs:label nl Duodenale aganglionose CANDIDATE +en Duodenal arteriovenous malformation HP:0031342 rdfs:label nl Duodenale arterioveneuze malformatie CANDIDATE +en Duodenal atresia HP:0002247 rdfs:label nl Duodenum atresie CANDIDATE +en Duodenal atrophy HP:0012414 rdfs:label nl Duodenale atrofie CANDIDATE +en Duodenal diverticula HP:0004800 rdfs:label nl Duodenale divertikels CANDIDATE +en Duodenal gastric metaplasia HP:0033116 rdfs:label nl Duodenal gastric metaplasia NOT_TRANSLATED +en Duodenal gastrinoma HP:0034953 rdfs:label nl Duodenaal gastrinoom OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Duodenal polyposis HP:0004783 rdfs:label nl Duodenale polyposis CANDIDATE +en Duodenal stenosis HP:0100867 rdfs:label nl Duodenum stenose CANDIDATE +en Duodenal ulcer HP:0002588 rdfs:label nl Ulcus duodeni CANDIDATE +en Duodenitis HP:0033117 rdfs:label nl Duodenitis NOT_TRANSLATED +en Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers HP:0033861 IAO:0000115 nl Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers NOT_TRANSLATED +en Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers HP:0033867 IAO:0000115 nl Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers NOT_TRANSLATED +en Duplicated clitoris HP:0030912 rdfs:label nl Gedupliceerde clitoris CANDIDATE +en Duplicated collecting system HP:0000081 rdfs:label nl Gedupliceerd verzamelsysteem CANDIDATE +en Duplicated colon HP:0005223 rdfs:label nl Gedupliceerd colon CANDIDATE +en Duplicated lacrimal punctum HP:0032514 rdfs:label nl Duplicated lacrimal punctum NOT_TRANSLATED +en Duplicated odontoid process HP:0025374 rdfs:label nl Gedupliceerde processus odontoideus CANDIDATE +en Duplicated tongue HP:0040294 rdfs:label nl Gedupliceerde tong CANDIDATE +en Duplicated tragus HP:0011270 rdfs:label nl Gedupliceerde tragus CANDIDATE +en Duplication involving bones of the feet HP:0009136 rdfs:label nl Duplicatie waarbij de botten van de voeten betrokken zijn CANDIDATE +en Duplication of all or part of the first ray HP:0001841 IAO:0000115 nl Duplication of all or part of the first ray NOT_TRANSLATED +en Duplication of bones involving the upper extremities HP:0009142 rdfs:label nl Duplicatie van botten waarbij de bovenste extremiteiten betrokken zijn CANDIDATE +en Duplication of distal phalanx of toe HP:0010193 rdfs:label nl Duplicatie van distale falanx van teen CANDIDATE +en Duplication of hand bones HP:0004275 rdfs:label nl Duplicatie van hand botten CANDIDATE +en Duplication of internal organs HP:0005217 rdfs:label nl Duplicatie van inwendige organen CANDIDATE +en Duplication of metatarsal bones HP:0001449 rdfs:label nl Duplicatie van metatarsale botten CANDIDATE +en Duplication of middle phalanx of toe HP:0010202 rdfs:label nl Duplicatie van middelste falanx van teen CANDIDATE +en Duplication of pancreatic duct HP:0030993 rdfs:label nl Duplicatie van ductus pancreaticus CANDIDATE +en Duplication of phalanx of 2nd finger HP:0009945 rdfs:label nl Duplicatie van falanx van 2e vinger CANDIDATE +en Duplication of phalanx of 3rd finger HP:0009959 rdfs:label nl Duplicatie van falanx van 3e vinger CANDIDATE +en Duplication of phalanx of 4th finger HP:0009972 rdfs:label nl Duplicatie van falanx van 4e vinger CANDIDATE +en Duplication of phalanx of 5th finger HP:0009985 rdfs:label nl Duplicatie van falanx van 5e vinger CANDIDATE +en Duplication of phalanx of hallux HP:0010066 rdfs:label nl Duplicatie van falanx van hallux CANDIDATE +en Duplication of phalanx of hand HP:0009997 rdfs:label nl Duplicatie van falanx van hand CANDIDATE +en Duplication of phalanx of the 3rd toe HP:0010367 rdfs:label nl Duplicatie van falanx van de 3e teen CANDIDATE +en Duplication of phalanx of the 4th toe HP:0010379 rdfs:label nl Duplicatie van falanx van de 4e teen CANDIDATE +en Duplication of phalanx of toe HP:0010181 rdfs:label nl Duplicatie van falanx van teen CANDIDATE +en Duplication of proximal phalanx of toe HP:0010211 rdfs:label nl Duplicatie van proximale falanx van teen CANDIDATE +en Duplication of renal pelvis HP:0005580 rdfs:label nl Duplicatie van nierbekken CANDIDATE +en Duplication of the 1st metacarpal HP:0009609 rdfs:label nl Duplicatie van de 1e metacarpaal CANDIDATE +en Duplication of the 1st metatarsal HP:0010075 rdfs:label nl Duplicatie van de 1e metatarsaal CANDIDATE +en Duplication of the distal phalanx of hand HP:0009883 rdfs:label nl Duplicatie van de distale falanx van hand CANDIDATE +en Duplication of the distal phalanx of the 2nd finger HP:0009948 rdfs:label nl Duplicatie van de distale falanx van de 2e vinger CANDIDATE +en Duplication of the distal phalanx of the 2nd toe HP:0010421 rdfs:label nl Duplicatie van de distale falanx van de 2e teen CANDIDATE +en Duplication of the distal phalanx of the 3rd finger HP:0009962 rdfs:label nl Duplicatie van de distale falanx van de 3e vinger CANDIDATE +en Duplication of the distal phalanx of the 3rd toe HP:0100398 rdfs:label nl Duplicatie van de distale falanx van de 3e teen CANDIDATE +en Duplication of the distal phalanx of the 4th finger HP:0009975 rdfs:label nl Duplicatie van de distale falanx van de 4e vinger CANDIDATE +en Duplication of the distal phalanx of the 4th toe HP:0100399 rdfs:label nl Duplicatie van de distale falanx van de 4e teen CANDIDATE +en Duplication of the distal phalanx of the 5th finger HP:0009988 rdfs:label nl Duplicatie van de distale falanx van de 5e vinger CANDIDATE +en Duplication of the distal phalanx of the 5th toe HP:0100400 rdfs:label nl Duplicatie van de distale falanx van de 5e teen CANDIDATE +en Duplication of the distal phalanx of the hallux HP:0010084 rdfs:label nl Duplicatie van de distale falanx van de hallux CANDIDATE +en Duplication of the distal phalanx of the thumb HP:0009612 rdfs:label nl Duplicatie van de distale falanx van de duim CANDIDATE +en Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition HP:0010503 IAO:0000115 nl Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition NOT_TRANSLATED +en Duplication of the metacarpal I bones HP:0005894 IAO:0000115 nl Duplication of the metacarpal I bones NOT_TRANSLATED +en Duplication of the middle phalanx of hand HP:0010008 rdfs:label nl Duplicatie van de middelste falanx van hand CANDIDATE +en Duplication of the middle phalanx of the 2nd finger HP:0009949 rdfs:label nl Duplicatie van de middelste falanx van de 2e vinger CANDIDATE +en Duplication of the middle phalanx of the 2nd toe HP:0010412 rdfs:label nl Duplicatie van de middelste falanx van de 2e teen CANDIDATE +en Duplication of the middle phalanx of the 3rd finger HP:0009963 rdfs:label nl Duplicatie van de middelste falanx van de 3e vinger CANDIDATE +en Duplication of the middle phalanx of the 3rd toe HP:0100401 rdfs:label nl Duplicatie van de middelste falanx van de 3e teen CANDIDATE +en Duplication of the middle phalanx of the 4th finger HP:0009976 rdfs:label nl Duplicatie van de middelste falanx van de 4e vinger CANDIDATE +en Duplication of the middle phalanx of the 4th toe HP:0100402 rdfs:label nl Duplicatie van de middelste falanx van de 4e teen CANDIDATE +en Duplication of the middle phalanx of the 5th finger HP:0009989 rdfs:label nl Duplicatie van de middelste falanx van de 5e vinger CANDIDATE +en Duplication of the middle phalanx of the 5th toe HP:0100403 rdfs:label nl Duplicatie van de middelste falanx van de 5e teen CANDIDATE +en Duplication of the phalanges of the 2nd toe HP:0010355 rdfs:label nl Duplicatie van de falangen van de 2e teen CANDIDATE +en Duplication of the phalanges of the 5th toe HP:0010391 rdfs:label nl Duplicatie van de falangen van de 5e teen CANDIDATE +en Duplication of the proximal phalanx of hand HP:0010006 rdfs:label nl Duplicatie van de proximale falanx van hand CANDIDATE +en Duplication of the proximal phalanx of the 2nd finger HP:0009947 rdfs:label nl Duplicatie van de proximale falanx van de 2e vinger CANDIDATE +en Duplication of the proximal phalanx of the 2nd toe HP:0010403 rdfs:label nl Duplicatie van de proximale falanx van de 2e teen CANDIDATE +en Duplication of the proximal phalanx of the 3rd finger HP:0009964 rdfs:label nl Duplicatie van de proximale falanx van de 3e vinger CANDIDATE +en Duplication of the proximal phalanx of the 3rd toe HP:0100404 rdfs:label nl Duplicatie van de proximale falanx van de 3e teen CANDIDATE +en Duplication of the proximal phalanx of the 4th finger HP:0009977 rdfs:label nl Duplicatie van de proximale falanx van de 4e vinger CANDIDATE +en Duplication of the proximal phalanx of the 4th toe HP:0100405 rdfs:label nl Duplicatie van de proximale falanx van de 4e teen CANDIDATE +en Duplication of the proximal phalanx of the 5th finger HP:0009990 rdfs:label nl Duplicatie van de proximale falanx van de 5e vinger CANDIDATE +en Duplication of the proximal phalanx of the 5th toe HP:0100406 rdfs:label nl Duplicatie van de proximale falanx van de 5e teen CANDIDATE +en Duplication of the proximal phalanx of the hallux HP:0010093 rdfs:label nl Duplicatie van de proximale falanx van de hallux CANDIDATE +en Duplication of the proximal phalanx of the thumb HP:0009613 rdfs:label nl Duplicatie van de proximale falanx van de duim CANDIDATE +en Duplication of the sella turcica HP:0040304 rdfs:label nl Duplicatie van de sella turcica CANDIDATE +en Duplication of the spinal cord HP:0100562 IAO:0000115 nl Duplication of the spinal cord NOT_TRANSLATED +en Duplication of the upper lip HP:0040295 rdfs:label nl Duplicatie van de bovenlip CANDIDATE +en Duplication of thumb phalanx HP:0009942 rdfs:label nl Duplicatie van duim falanx CANDIDATE +en Dupuytren contracture HP:0005679 rdfs:label nl Contractuur van Dupuytren CANDIDATE +en Dural ectasia HP:0100775 rdfs:label nl Durale ectasie CANDIDATE +en Dural tail sign HP:0032268 rdfs:label nl Dural tail sign NOT_TRANSLATED +en During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord HP:0002144 IAO:0000115 nl During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord NOT_TRANSLATED +en During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation HP:0033798 IAO:0000115 nl During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation NOT_TRANSLATED +en Dust mite allergy HP:0410324 rdfs:label nl Dust mite allergy NOT_TRANSLATED +en Dust particle inclusion in alveolar macrophages HP:0032985 rdfs:label nl Dust particle inclusion in alveolar macrophages NOT_TRANSLATED +en Dynein arm defect of respiratory motile cilia HP:0012255 rdfs:label nl Dyneïne arm defect van respiratoire trilhaar CANDIDATE +en Dysarthria HP:0001260 rdfs:label nl Dysartrie CANDIDATE +en Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed HP:0001260 IAO:0000115 nl Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed NOT_TRANSLATED +en Dyscalculia HP:0002442 rdfs:label nl Dyscalculie CANDIDATE +en Dyschromatopsia HP:0007641 rdfs:label nl Dyschromatopsie CANDIDATE +en Dysdiadochokinesis HP:0002075 rdfs:label nl Dysdiadochokinese CANDIDATE +en Dysembryoplastic neuroepithelial tumor HP:0033703 rdfs:label nl Dysembryoplastic neuroepithelial tumor NOT_TRANSLATED +en Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found HP:0033703 IAO:0000115 nl Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found NOT_TRANSLATED +en Dysesthesia HP:0012534 rdfs:label nl Dysesthesie CANDIDATE +en Dysfibrinogenemia HP:0011901 rdfs:label nl Dysfibrinogenemie CANDIDATE +en Dysfunction of lateral corticospinal tracts HP:0007299 rdfs:label nl Dsyfunctie van laterale corticospinale banen CANDIDATE +en Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle HP:0000114 IAO:0000115 nl Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle NOT_TRANSLATED +en Dysfunction of the urinary bladder HP:0000009 IAO:0000115 nl Dysfunction of the urinary bladder NOT_TRANSLATED +en Dysfunctional alternative complement pathway HP:0005423 rdfs:label nl Dysfunctionele alternatieve complement pathway CANDIDATE +en Dysgammaglobulinemia HP:0002961 rdfs:label nl Dysgammaglobulinemie CANDIDATE +en Dysgenesis of the basal ganglia HP:0025102 rdfs:label nl Dysgenesie van basale ganglia CANDIDATE +en Dysgenesis of the cerebellar vermis HP:0002195 rdfs:label nl Dysgenesie van de vermis CANDIDATE +en Dysgenesis of the hippocampus HP:0025101 rdfs:label nl Dysgenesie van de hippocampus CANDIDATE +en Dysgenesis of the hypothalamus HP:0025098 rdfs:label nl Dysgenesie van de hypothalamu CANDIDATE +en Dysgenesis of the thalamus HP:0025099 rdfs:label nl Dysgenesie van de thalamus CANDIDATE +en Dysgerminoma HP:0100621 rdfs:label nl Dysgerminoom CANDIDATE +en Dysgraphia HP:0010526 rdfs:label nl Dysgrafie CANDIDATE +en Dysgyria HP:0032398 rdfs:label nl Dysgyria NOT_TRANSLATED +en Dysgyria with normal cortical thickness HP:0032399 rdfs:label nl Dysgyria with normal cortical thickness NOT_TRANSLATED +en Dysgyria with thickened cortex HP:0032400 rdfs:label nl Dysgyria with thickened cortex NOT_TRANSLATED +en Dysharmonic accelerated bone age HP:0200001 rdfs:label nl Dysharmonisch versnelde bot leeftijd CANDIDATE +en Dysharmonic bone age HP:0200000 rdfs:label nl Dysharmonische bot leeftijd CANDIDATE +en Dysharmonic delayed bone age HP:0005832 rdfs:label nl Dysharmonisch vertraaagde bot leeftijd CANDIDATE +en Dysharmonic maturation of the hand bones HP:0004053 rdfs:label nl Dysharmonische rijping van de botten van de hand CANDIDATE +en Dyskinesia HP:0100660 rdfs:label nl Dyskinesie CANDIDATE +en Dyslexia HP:0010522 rdfs:label nl Dyslexie CANDIDATE +en Dysmenorrhea HP:0100607 rdfs:label nl Dysmenorroe CANDIDATE +en Dysmetria HP:0001310 rdfs:label nl Dysmetrie CANDIDATE +en Dysmetric horizontal saccades HP:0032015 rdfs:label nl Dysmetric horizontal saccades NOT_TRANSLATED +en Dysmetric saccades HP:0000641 rdfs:label nl Dysmetrische saccades CANDIDATE +en Dysmetric vertical saccades HP:0032014 rdfs:label nl Dysmetric vertical saccades NOT_TRANSLATED +en Dysmorphic hematuria HP:0032957 rdfs:label nl Dysmorphic hematuria NOT_TRANSLATED +en Dysmorphic inferior cerebellar vermis HP:0012460 rdfs:label nl Dysmorfe inferieure vermis CANDIDATE +en Dysmyelinating leukodystrophy HP:0006978 rdfs:label nl Dysmyeliniserende leukodystrofie CANDIDATE +en Dysostosis multiplex HP:0000943 rdfs:label nl Cleidocranialis multiplex CANDIDATE +en Dyspareunia HP:0030016 rdfs:label nl Dyspareunie CANDIDATE +en Dyspepsia HP:0410281 rdfs:label nl Dyspepsia NOT_TRANSLATED +en Dysphagia HP:0002015 rdfs:label nl Dysfagie CANDIDATE +en Dysphonia HP:0001618 rdfs:label nl Dysfonie CANDIDATE +en Dysphoria HP:0033838 rdfs:label nl Dysphoria NOT_TRANSLATED +en Dysplasia affecting the vasculature of the gastrointestinal tract HP:0000471 IAO:0000115 nl Dysplasia affecting the vasculature of the gastrointestinal tract NOT_TRANSLATED +en Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium HP:0006989 IAO:0000115 nl Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium NOT_TRANSLATED +en Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts HP:0031688 IAO:0000115 nl Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts NOT_TRANSLATED +en Dysplasia of second lumbar vertebra HP:0004589 rdfs:label nl Dysplasie van tweede lumbale wervel CANDIDATE +en Dysplasia of the cervical vertebral column HP:0008469 IAO:0000115 nl Dysplasia of the cervical vertebral column NOT_TRANSLATED +en Dysplasia of the femoral head HP:0010575 rdfs:label nl Dysplasie van de femurkop CANDIDATE +en Dysplasia of the superior cerebellar vermis HP:0033745 rdfs:label nl Dysplasia of the superior cerebellar vermis NOT_TRANSLATED +en Dysplastic aortic valve HP:0005176 rdfs:label nl Dysplastische aortaklep CANDIDATE +en Dysplastic corpus callosum HP:0006989 rdfs:label nl Dysplastisch corpus callosum CANDIDATE +en Dysplastic distal radial epiphyses HP:0005013 rdfs:label nl Dysplastische distale epifyse van de radius CANDIDATE +en Dysplastic distal thumb phalanges with a central hole HP:0005688 rdfs:label nl Dysplastische distale duim falangen met een centraal gat CANDIDATE +en Dysplastic erythropoesis HP:0012134 rdfs:label nl Dysplastische erytropoëse CANDIDATE +en Dysplastic gangliocytoma of the cerebellum HP:0500009 rdfs:label nl Dysplastisch gangliocytoom van het cerebellum CANDIDATE +en Dysplastic granulopoesis HP:0012136 rdfs:label nl Dysplastische granulopoese CANDIDATE +en Dysplastic iliac wing HP:0008794 rdfs:label nl Dysplastische alae ossis ilium CANDIDATE +en Dysplastic megalencephaly HP:0034329 rdfs:label nl Dysplastic megalencephaly NOT_TRANSLATED +en Dysplastic patella HP:0006446 rdfs:label nl Dysplastische patella CANDIDATE +en Dysplastic pulmonary valve HP:0005164 rdfs:label nl Dysplastische pulmonale klep CANDIDATE +en Dysplastic sacrum HP:0008455 rdfs:label nl Dysplastisch sacrum CANDIDATE +en Dysplastic testes HP:0008733 rdfs:label nl Dysplastische testes CANDIDATE +en Dysplastic tricuspid valve HP:0030732 rdfs:label nl Dysplastische tricuspidalisklep CANDIDATE +en Dyspnea HP:0002094 rdfs:label nl Dyspnoe CANDIDATE +en Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body HP:0033428 IAO:0000115 nl Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body NOT_TRANSLATED +en Dyssynergia HP:0010867 rdfs:label nl Dyssynergie CANDIDATE +en Dystonia HP:0001332 rdfs:label nl Dystonie CANDIDATE +en Dystonic gait HP:0031954 rdfs:label nl Dystonic gait NOT_TRANSLATED +en Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients HP:0031954 IAO:0000115 nl Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients NOT_TRANSLATED +en Dystopic os odontoideum HP:0040143 rdfs:label nl Dystopisch os odontoideum CANDIDATE +en Dystrophic fingernails HP:0008391 rdfs:label nl Dystrofische vingernagels CANDIDATE +en Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins HP:0025713 IAO:0000115 nl Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins NOT_TRANSLATED +en Dystrophic toenail HP:0001810 rdfs:label nl Dystrofische teennagel CANDIDATE +en Dysuria HP:0100518 rdfs:label nl Dysurie CANDIDATE +en EBV encephalitis HP:0033509 rdfs:label nl EBV encephalitis NOT_TRANSLATED +en EBV meningitis HP:0033508 rdfs:label nl EBV meningitis NOT_TRANSLATED +en EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns HP:0010852 IAO:0000115 nl EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns NOT_TRANSLATED +en EEG abnormality HP:0002353 rdfs:label nl EEG afwijking CANDIDATE +en EEG background activity at 4-5/second HP:0011177 IAO:0000115 nl EEG background activity at 4-5/second NOT_TRANSLATED +en EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0011185 IAO:0000115 nl EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en EEG discharges recorded on the entire scalp typically seen in persons with epilepsy HP:0011198 IAO:0000115 nl EEG discharges recorded on the entire scalp typically seen in persons with epilepsy NOT_TRANSLATED +en EEG dominated by diffuse alpha-waves (8-13Hz) HP:0011178 IAO:0000115 nl EEG dominated by diffuse alpha-waves (8-13Hz) NOT_TRANSLATED +en EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz) HP:0011180 IAO:0000115 nl EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz) NOT_TRANSLATED +en EEG dominated by diffuse beta-waves (>13 Hz) HP:0011179 IAO:0000115 nl EEG dominated by diffuse beta-waves (>13 Hz) NOT_TRANSLATED +en EEG frequency is abnormally increased HP:0011202 IAO:0000115 nl EEG frequency is abnormally increased NOT_TRANSLATED +en EEG showing diffuse slowing without interruption HP:0011204 IAO:0000115 nl EEG showing diffuse slowing without interruption NOT_TRANSLATED +en EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency HP:0001326 IAO:0000115 nl EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency NOT_TRANSLATED +en EEG with 4-5/second background activity HP:0011177 rdfs:label nl EEG met 4-5/seconde achtergrondactiviteit CANDIDATE +en EEG with abnormal amplitude HP:0011201 IAO:0000115 nl EEG with abnormal amplitude NOT_TRANSLATED +en EEG with abnormally slow frequencies HP:0011203 IAO:0000115 nl EEG with abnormally slow frequencies NOT_TRANSLATED +en EEG with abnormally slow frequencies HP:0011203 rdfs:label nl EEG with abnormally slow frequencies NOT_TRANSLATED +en EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz) HP:0011181 IAO:0000115 nl EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz) NOT_TRANSLATED +en EEG with burst suppression HP:0010851 rdfs:label nl EEG met burst-supressie CANDIDATE +en EEG with central epileptiform discharges HP:0033718 rdfs:label nl EEG with central epileptiform discharges NOT_TRANSLATED +en EEG with central focal spike waves HP:0012009 rdfs:label nl EEG met centrale focale piekgolven CANDIDATE +en EEG with central focal spikes HP:0012014 rdfs:label nl EEG with central focal spikes NOT_TRANSLATED +en EEG with central sharp slow waves HP:0011291 rdfs:label nl EEG with central sharp slow waves NOT_TRANSLATED +en EEG with central sharp waves HP:0011293 rdfs:label nl EEG with central sharp waves NOT_TRANSLATED +en EEG with centrotemporal epileptiform discharges HP:0033721 rdfs:label nl EEG with centrotemporal epileptiform discharges NOT_TRANSLATED +en EEG with centrotemporal focal spike waves HP:0012557 rdfs:label nl EEG met centrotemporale focale piekgolven CANDIDATE +en EEG with changes in voltage HP:0011201 rdfs:label nl EEG met veranderingen in voltage CANDIDATE +en EEG with constitutional variants HP:0011176 rdfs:label nl EEG with constitutional variants NOT_TRANSLATED +en EEG with continuous slow activity HP:0011204 rdfs:label nl EEG with continuous slow activity NOT_TRANSLATED +en EEG with diffuse acceleration HP:0011202 rdfs:label nl EEG with diffuse acceleration NOT_TRANSLATED +en EEG with focal epileptiform discharges HP:0011185 rdfs:label nl EEG met focale epileptiforme ontladingen CANDIDATE +en EEG with focal sharp slow waves HP:0011195 rdfs:label nl EEG with focal sharp slow waves NOT_TRANSLATED +en EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave HP:0012009 IAO:0000115 nl EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave HP:0012557 IAO:0000115 nl EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave HP:0012010 IAO:0000115 nl EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave HP:0012011 IAO:0000115 nl EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave HP:0012012 IAO:0000115 nl EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave HP:0012013 IAO:0000115 nl EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration between 80 and 200 msec HP:0011196 IAO:0000115 nl EEG with focal sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave HP:0011195 IAO:0000115 nl EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration less than 80 msec HP:0011193 IAO:0000115 nl EEG with focal sharp transient waves of a duration less than 80 msec NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave HP:0011197 IAO:0000115 nl EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration less than 80 msec in the central region HP:0012014 IAO:0000115 nl EEG with focal sharp transient waves of a duration less than 80 msec in the central region NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region HP:0012015 IAO:0000115 nl EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region HP:0012016 IAO:0000115 nl EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region HP:0012017 IAO:0000115 nl EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region NOT_TRANSLATED +en EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region HP:0012018 IAO:0000115 nl EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region NOT_TRANSLATED +en EEG with focal sharp waves HP:0011196 rdfs:label nl EEG with focal sharp waves NOT_TRANSLATED +en EEG with focal slow activity HP:0010843 rdfs:label nl EEG met focale trage activiteit CANDIDATE +en EEG with focal spike waves HP:0011197 rdfs:label nl EEG with focal spike waves NOT_TRANSLATED +en EEG with focal spikes HP:0011193 rdfs:label nl EEG met focale piekgolven CANDIDATE +en EEG with frontal epileptiform discharges HP:0033716 rdfs:label nl EEG with frontal epileptiform discharges NOT_TRANSLATED +en EEG with frontal focal spike waves HP:0012010 rdfs:label nl EEG met frontale focale piekgolven CANDIDATE +en EEG with frontal focal spikes HP:0012015 rdfs:label nl EEG with frontal focal spikes NOT_TRANSLATED +en EEG with frontal sharp slow waves HP:0011290 rdfs:label nl EEG with frontal sharp slow waves NOT_TRANSLATED +en EEG with frontal sharp waves HP:0011294 rdfs:label nl EEG with frontal sharp waves NOT_TRANSLATED +en EEG with generalized epileptiform discharges HP:0011198 rdfs:label nl EEG met gegeneraliseerde epileptiforme ontladingen CANDIDATE +en EEG with generalized low amplitude activity HP:0010854 rdfs:label nl EEG met gegeneraliseerde lage amplitude activiteit CANDIDATE +en EEG with generalized polymorphic epileptiform discharges HP:0011200 rdfs:label nl EEG met gegeneraliseerde polymorfe epileptiforme ontladingen CANDIDATE +en EEG with generalized polyspikes HP:0012001 rdfs:label nl EEG met gegeneraliseerde polypiekgolven CANDIDATE +en EEG with generalized sharp slow waves HP:0011199 rdfs:label nl EEG with generalized sharp slow waves NOT_TRANSLATED +en EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave HP:0011199 IAO:0000115 nl EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED +en EEG with generalized sharp transient waves of a duration less than 80 msec HP:0012000 IAO:0000115 nl EEG with generalized sharp transient waves of a duration less than 80 msec NOT_TRANSLATED +en EEG with generalized slow activity HP:0010845 rdfs:label nl EEG met gegeneraliseerde trage activiteit CANDIDATE +en EEG with generalized slow activity grade 1 HP:0011206 rdfs:label nl EEG with generalized slow activity grade 1 NOT_TRANSLATED +en EEG with generalized slow activity grade 2 HP:0011207 rdfs:label nl EEG with generalized slow activity grade 2 NOT_TRANSLATED +en EEG with generalized slow activity grade 3 HP:0011208 rdfs:label nl EEG with generalized slow activity grade 3 NOT_TRANSLATED +en EEG with generalized slow activity grade 4 HP:0011209 rdfs:label nl EEG with generalized slow activity grade 4 NOT_TRANSLATED +en EEG with generalized spikes HP:0012000 rdfs:label nl EEG met gegeneraliseerde piekgolven CANDIDATE +en EEG with hyperventilation-induced epileptiform discharges HP:0010858 rdfs:label nl EEG met hyperventilatie-geïnduceerde epileptiforme ontladingen CANDIDATE +en EEG with hyperventilation-induced focal epileptiform discharges HP:0011183 rdfs:label nl EEG met hyperventilatie-geïnduceerde focale epileptiforme ontladingen CANDIDATE +en EEG with hyperventilation-induced generalized epileptiform discharges HP:0011184 rdfs:label nl EEG met hyperventilatie-geïnduceerde gegeneraliseerde epileptiforme ontladingen CANDIDATE +en EEG with intermittent slow activity HP:0011205 rdfs:label nl EEG with intermittent slow activity NOT_TRANSLATED +en EEG with irregular generalized spike and wave complexes HP:0001326 rdfs:label nl EEG met onregelmatige gegeneraliseerde piek- en golfcomplexen CANDIDATE +en EEG with localized low amplitude activity HP:0010855 rdfs:label nl EEG met gelokaliseerde lage amplitude activiteit CANDIDATE +en EEG with multifocal slow activity HP:0010844 rdfs:label nl EEG met multifocale trage activiteit CANDIDATE +en EEG with occipital epileptiform discharges HP:0033720 rdfs:label nl EEG with occipital epileptiform discharges NOT_TRANSLATED +en EEG with occipital focal spike waves HP:0012011 rdfs:label nl EEG met occipitale focale piekgolven CANDIDATE +en EEG with occipital focal spikes HP:0012016 rdfs:label nl EEG with occipital focal spikes NOT_TRANSLATED +en EEG with occipital sharp slow waves HP:0011287 rdfs:label nl EEG with occipital sharp slow waves NOT_TRANSLATED +en EEG with occipital sharp waves HP:0011292 rdfs:label nl EEG with occipital sharp waves NOT_TRANSLATED +en EEG with occipital slowing HP:0011210 rdfs:label nl EEG with occipital slowing NOT_TRANSLATED +en EEG with parietal epileptiform discharges HP:0033719 rdfs:label nl EEG with parietal epileptiform discharges NOT_TRANSLATED +en EEG with parietal focal spike waves HP:0012012 rdfs:label nl EEG met pariëtale focale piekgolven CANDIDATE +en EEG with parietal focal spikes HP:0012017 rdfs:label nl EEG with parietal focal spikes NOT_TRANSLATED +en EEG with parietal sharp slow waves HP:0011288 rdfs:label nl EEG with parietal sharp slow waves NOT_TRANSLATED +en EEG with parietal sharp waves HP:0011295 rdfs:label nl EEG with parietal sharp waves NOT_TRANSLATED +en EEG with periodic abnormalities HP:0010857 rdfs:label nl EEG met periodieke afwijkingen CANDIDATE +en EEG with periodic complexes HP:0010856 rdfs:label nl EEG met periodieke complexen CANDIDATE +en EEG with periodic lateralized epileptiform discharges HP:0010853 rdfs:label nl EEG met periodieke gelateraliseerde epileptiforme ontladingen CANDIDATE +en EEG with persistent abnormal rhythmic activity HP:0010846 rdfs:label nl EEG met persisterende afwijkende ritmische activiteit CANDIDATE +en EEG with photoparoxysmal response HP:0010852 rdfs:label nl EEG met fotoparoxysmale respons CANDIDATE +en EEG with photoparoxysmal response grade I HP:0011211 rdfs:label nl EEG met fotoparoxysmale respons graad I CANDIDATE +en EEG with photoparoxysmal response grade II HP:0011212 rdfs:label nl EEG met fotoparoxysmale respons graad II CANDIDATE +en EEG with photoparoxysmal response grade III HP:0011213 rdfs:label nl EEG met fotoparoxysmale respons graad III CANDIDATE +en EEG with photoparoxysmal response grade IV HP:0011214 rdfs:label nl EEG met fotoparoxysmale respons graad IV CANDIDATE +en EEG with polyspike wave complexes HP:0002392 rdfs:label nl EEG with polyspike wave complexes NOT_TRANSLATED +en EEG with repetitive generalized sharp transient waves of a duration less than 80 msec HP:0012001 IAO:0000115 nl EEG with repetitive generalized sharp transient waves of a duration less than 80 msec NOT_TRANSLATED +en EEG with series of focal spikes HP:0011194 rdfs:label nl EEG with series of focal spikes NOT_TRANSLATED +en EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave HP:0011291 IAO:0000115 nl EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED +en EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave HP:0011290 IAO:0000115 nl EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED +en EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave HP:0011287 IAO:0000115 nl EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED +en EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave HP:0011288 IAO:0000115 nl EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED +en EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave HP:0011289 IAO:0000115 nl EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave NOT_TRANSLATED +en EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec HP:0011293 IAO:0000115 nl EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED +en EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec HP:0011294 IAO:0000115 nl EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED +en EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec HP:0011292 IAO:0000115 nl EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED +en EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec HP:0011295 IAO:0000115 nl EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED +en EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec HP:0011296 IAO:0000115 nl EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec NOT_TRANSLATED +en EEG with spike-wave complexes HP:0010850 rdfs:label nl EEG met piekgolfcomplexen CANDIDATE +en EEG with spike-wave complexes (2.5-3.5 Hz) HP:0010848 rdfs:label nl EEG met piekgolfcomplexen (2,5-3,5 Hz) CANDIDATE +en EEG with spike-wave complexes (<2.5 Hz) HP:0010847 rdfs:label nl EEG met piekgolfcomplexen (2,5 Hz) CANDIDATE +en EEG with spike-wave complexes (>3.5 Hz) HP:0010849 rdfs:label nl EEG met piekgolfcomplexen (3,5 Hz) CANDIDATE +en EEG with temporal epileptiform discharges HP:0033717 rdfs:label nl EEG with temporal epileptiform discharges NOT_TRANSLATED +en EEG with temporal focal spike waves HP:0012013 rdfs:label nl EEG met temporale focale piekgolven CANDIDATE +en EEG with temporal focal spikes HP:0012018 rdfs:label nl EEG with temporal focal spikes NOT_TRANSLATED +en EEG with temporal sharp slow waves HP:0011289 rdfs:label nl EEG with temporal sharp slow waves NOT_TRANSLATED +en EEG with temporal sharp waves HP:0011296 rdfs:label nl EEG with temporal sharp waves NOT_TRANSLATED +en EEG without electrical activity HP:0011209 IAO:0000115 nl EEG without electrical activity NOT_TRANSLATED +en EMG abnormality HP:0003457 rdfs:label nl EMG afwijking CANDIDATE +en EMG: axonal abnormality HP:0003482 rdfs:label nl EMG: axonale afwijking CANDIDATE +en EMG: chronic denervation signs HP:0003444 rdfs:label nl EMG: chronische denervatie tekenen CANDIDATE +en EMG: continuous motor unit activity at rest HP:0100283 rdfs:label nl EMG: continu motor eenheid activiteit in rust CANDIDATE +en EMG: decremental response of compound muscle action potential to repetitive nerve stimulation HP:0003403 rdfs:label nl EMG: decremental response of compound muscle action potential to repetitive nerve stimulation NOT_TRANSLATED +en EMG: impaired neuromuscular transmission HP:0100285 rdfs:label nl EMG: verwzakte neuromusculaire transmissie CANDIDATE +en EMG: incremental response of compound muscle action potential to repetitive nerve stimulation HP:0030206 rdfs:label nl EMG: incremental response of compound muscle action potential to repetitive nerve stimulation NOT_TRANSLATED +en EMG: myokymic discharges HP:0100288 rdfs:label nl EMG: myokymische ontladingen CANDIDATE +en EMG: myopathic abnormalities HP:0003458 rdfs:label nl EMG: myopatische afwijkingen CANDIDATE +en EMG: myotonic discharges HP:0100284 rdfs:label nl EMG: myotone ontladingen CANDIDATE +en EMG: myotonic runs HP:0003730 rdfs:label nl EMG: myotonic runs NOT_TRANSLATED +en EMG: neuropathic changes HP:0003445 rdfs:label nl EMG: neuropatische veranderingen CANDIDATE +en EMG: positive sharp waves HP:0030007 rdfs:label nl EMG: positive sharp waves NOT_TRANSLATED +en EMG: repetitive nerve stimulation abnormality HP:0030000 rdfs:label nl EMG: repetitieve zenuw stimulatie afwijking CANDIDATE +en EMG: slow motor conduction HP:0100287 rdfs:label nl EMG: trage motor geleiding CANDIDATE +en Ear pain HP:0030766 rdfs:label nl Oorpijn CANDIDATE +en Early balding HP:0002234 rdfs:label nl Vroeg kalend CANDIDATE +en Early chronotype HP:0031873 rdfs:label nl Early chronotype NOT_TRANSLATED +en Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life HP:0008491 IAO:0000115 nl Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life NOT_TRANSLATED +en Early cutaneous photosensitivity HP:0007396 rdfs:label nl Vroege cutane fotosensitiviteit CANDIDATE +en Early inspiratory crackles HP:0031997 rdfs:label nl Early inspiratory crackles NOT_TRANSLATED +en Early onset absence seizures HP:0011152 rdfs:label nl Early onset van absence aanvallen CANDIDATE +en Early onset of sexual maturation HP:0100000 rdfs:label nl Vroege onset van de seksuele rijping CANDIDATE +en Early ossification of capital femoral epiphyses HP:0008797 rdfs:label nl Vroege ossificatie van proximale epifysen van femurkop CANDIDATE +en Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage HP:0006607 IAO:0000115 nl Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage NOT_TRANSLATED +en Early progressive calcific cardiac valvular disease HP:0006694 rdfs:label nl Vroeg progressieve calcificerende hartklep ziekte CANDIDATE +en Early satiety HP:0033842 rdfs:label nl Early satiety NOT_TRANSLATED +en Early spermatogenesis maturation arrest HP:0031039 rdfs:label nl Early spermatogenesis maturation arrest NOT_TRANSLATED +en Early young adult onset HP:0025708 rdfs:label nl Early young adult onset NOT_TRANSLATED +en Ears that are low-set and posteriorly rotated HP:0000368 IAO:0000115 nl Ears that are low-set and posteriorly rotated NOT_TRANSLATED +en Easily subluxated first metacarpophalangeal joints HP:0005747 rdfs:label nl Gemakkelijk subluxerende eerste metacarpale-falangeale gewrichten CANDIDATE +en Easy fatigability HP:0003388 rdfs:label nl Gemakkelijk vermoeibaar CANDIDATE +en Eating-induced seizure HP:0020208 rdfs:label nl Eating-induced seizure NOT_TRANSLATED +en Ebstein anomaly of the tricuspid valve HP:0010316 rdfs:label nl Anomalie van Ebstein van tricuspidalisklep CANDIDATE +en Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet HP:0010316 IAO:0000115 nl Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet NOT_TRANSLATED +en Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation HP:0500072 IAO:0000115 nl Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation NOT_TRANSLATED +en Eccentric visual fixation HP:0025549 rdfs:label nl Eccentrische visuele fixatie CANDIDATE +en Ecchymosis HP:0031364 rdfs:label nl Ecchymose CANDIDATE +en Eccrine syringofibroadenoma HP:0031018 rdfs:label nl Eccrien syringofibroadenoom CANDIDATE +en Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA) HP:0031018 IAO:0000115 nl Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA) NOT_TRANSLATED +en Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone HP:0010943 IAO:0000115 nl Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone NOT_TRANSLATED +en Echogenic fetal bowel HP:0010943 rdfs:label nl Echodense foetale darmen CANDIDATE +en Echogenic intracardiac focus HP:0010942 rdfs:label nl Echodens intracardiaal focus CANDIDATE +en Echolalia HP:0010529 rdfs:label nl Echolalie CANDIDATE +en Eclabion HP:0012472 rdfs:label nl Eclabion CANDIDATE +en Eclampsia HP:0100601 rdfs:label nl Eclampsie CANDIDATE +en Ectodermal dysplasia HP:0000968 rdfs:label nl Ectodermale dysplasie CANDIDATE +en Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands HP:0000968 IAO:0000115 nl Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands NOT_TRANSLATED +en Ectopia cordis HP:0001683 rdfs:label nl Ectopia cordis CANDIDATE +en Ectopia lentis HP:0001083 rdfs:label nl Ectopia lentis CANDIDATE +en Ectopia of the spleen HP:0010452 rdfs:label nl Ectopische milt CANDIDATE +en Ectopia pupillae HP:0009918 rdfs:label nl Ectopia pupillae CANDIDATE +en Ectopic accesory toe-like appendage HP:0010440 rdfs:label nl Ectopisch extra teen-achtig aanhangsel CANDIDATE +en Ectopic accessory finger-like appendage HP:0010441 rdfs:label nl Ectopisch extra vinger-achtig aanhangsel CANDIDATE +en Ectopic adrenal gland HP:0011742 rdfs:label nl Ectopische bijnier CANDIDATE +en Ectopic anterior pituitary gland HP:0012731 rdfs:label nl Ectopische hypofysevoorkwab CANDIDATE +en Ectopic anus HP:0004397 rdfs:label nl Ectopische anus CANDIDATE +en Ectopic calcification HP:0010766 rdfs:label nl Ectopische calcificatie CANDIDATE +en Ectopic cilia of eyelid HP:0430006 rdfs:label nl Ectopische cilia van ooglid CANDIDATE +en Ectopic deposition of calcium salts found in the gingiva HP:0025141 IAO:0000115 nl Ectopic deposition of calcium salts found in the gingiva NOT_TRANSLATED +en Ectopic deposition of calcium salts in the Achilles tendon HP:0025441 IAO:0000115 nl Ectopic deposition of calcium salts in the Achilles tendon NOT_TRANSLATED +en Ectopic endometrial tissue within the uterine myometrium HP:0034326 IAO:0000115 nl Ectopic endometrial tissue within the uterine myometrium NOT_TRANSLATED +en Ectopic fovea HP:0025007 rdfs:label nl Ectopische fovea CANDIDATE +en Ectopic kidney HP:0000086 rdfs:label nl Ectopische nier CANDIDATE +en Ectopic lacrimal punctum HP:0010748 rdfs:label nl Ectopisch punctum lacrimale CANDIDATE +en Ectopic liver HP:0030722 rdfs:label nl Ectopische lever CANDIDATE +en Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter HP:0030722 IAO:0000115 nl Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter NOT_TRANSLATED +en Ectopic ossification HP:0011986 rdfs:label nl Ectopische ossificatie CANDIDATE +en Ectopic ossification in ligament tissue HP:0011989 rdfs:label nl Ectopische ossificatie in ligament weefsel CANDIDATE +en Ectopic ossification in muscle tissue HP:0011987 rdfs:label nl Ectopische ossificatie in spierweefsel CANDIDATE +en Ectopic ossification in tendon tissue HP:0011988 rdfs:label nl Ectopische ossificatie in pees weefsel CANDIDATE +en Ectopic ovary HP:0031086 rdfs:label nl Ectopisch ovarium CANDIDATE +en Ectopic pancreatic tissue HP:0006278 rdfs:label nl Ectopisch pancreatisch weefsel CANDIDATE +en Ectopic parathyroid HP:0011769 rdfs:label nl Ectopische bijschildklier CANDIDATE +en Ectopic posterior pituitary HP:0011755 rdfs:label nl Ectopische posterieure hypofyse CANDIDATE +en Ectopic pregnancy HP:0031456 rdfs:label nl Ectopische zwangerschap CANDIDATE +en Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations HP:0100241 IAO:0000115 nl Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations NOT_TRANSLATED +en Ectopic respiratory mucosa HP:0100241 rdfs:label nl Ectopische respiratoire mucosa CANDIDATE +en Ectopic scrotum HP:0030275 rdfs:label nl Ectopisch scrotum CANDIDATE +en Ectopic testis HP:6000460 rdfs:label nl Ectopische testis OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Ectopic thymus tissue HP:0010517 rdfs:label nl Ectopisch thymus weefsel CANDIDATE +en Ectopic thyroid HP:0100028 rdfs:label nl Ectopische schildklier CANDIDATE +en Ectopic tooth eruption HP:4000093 rdfs:label nl Ectopic tooth eruption NOT_TRANSLATED +en Ectrodactyly HP:0100257 rdfs:label nl Ectrodactylie CANDIDATE +en Ectropion HP:0000656 rdfs:label nl Ectropion CANDIDATE +en Ectropion of lower eyelids HP:0007651 rdfs:label nl Ectropion van de onderste wimpers CANDIDATE +en Eczema HP:0000964 rdfs:label nl Eczeem CANDIDATE +en Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding HP:0000964 IAO:0000115 nl Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding NOT_TRANSLATED +en Eczematoid dermatitis HP:0000976 rdfs:label nl Eczematoïde dermatitis CANDIDATE +en Edema HP:0000969 rdfs:label nl Oedeem CANDIDATE +en Edema (swelling) of the bulbar conjunctiva HP:0012375 IAO:0000115 nl Edema (swelling) of the bulbar conjunctiva NOT_TRANSLATED +en Edema affecting the region situated around the orbit of the eye HP:0100539 IAO:0000115 nl Edema affecting the region situated around the orbit of the eye NOT_TRANSLATED +en Edema in the region of the Lower eyelid HP:0012568 IAO:0000115 nl Edema in the region of the Lower eyelid NOT_TRANSLATED +en Edema in the region of the eyelids HP:0100540 IAO:0000115 nl Edema in the region of the eyelids NOT_TRANSLATED +en Edema in the region of the upper eyelid HP:0012724 IAO:0000115 nl Edema in the region of the upper eyelid NOT_TRANSLATED +en Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density HP:0032637 IAO:0000115 nl Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density NOT_TRANSLATED +en Edema of the dorsum of feet HP:0012098 rdfs:label nl Oedeem van de dorsum van voeten CANDIDATE +en Edema of the dorsum of hands HP:0007514 rdfs:label nl Oedeem van de dorsum van handen CANDIDATE +en Edema of the upper limbs HP:0010742 rdfs:label nl Oedeem van bovenste ledematen CANDIDATE +en Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane HP:0031526 IAO:0000115 nl Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane NOT_TRANSLATED +en Edema/fluid accumulating within the retinal layers HP:0031527 IAO:0000115 nl Edema/fluid accumulating within the retinal layers NOT_TRANSLATED +en Edematous chorionic villi HP:0033043 rdfs:label nl Edematous chorionic villi NOT_TRANSLATED +en Effort-induced polymorphic ventricular tachycardia HP:0004758 rdfs:label nl Inspannings-geïnduceerde polymorfe ventriculaire tachycardieën CANDIDATE +en Egg allergy HP:0410328 rdfs:label nl Egg allergy NOT_TRANSLATED +en Ejection click HP:0034421 rdfs:label nl Ejection click NOT_TRANSLATED +en Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers HP:0025167 IAO:0000115 nl Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers NOT_TRANSLATED +en Elbow ankylosis HP:0003070 rdfs:label nl Ankylose van de elleboog CANDIDATE +en Elbow clonus HP:0011728 rdfs:label nl Elleboog clonus CANDIDATE +en Elbow contracture HP:0034391 rdfs:label nl Elbow contracture NOT_TRANSLATED +en Elbow dislocation HP:0003042 rdfs:label nl Elleboog dislocatie CANDIDATE +en Elbow extension contracture HP:0034393 rdfs:label nl Elbow extension contracture NOT_TRANSLATED +en Elbow flexion contracture HP:0002987 rdfs:label nl Elleboog flexiecontractuur CANDIDATE +en Elbow hypertrichosis HP:0004780 rdfs:label nl Hypertrichose op elleboog CANDIDATE +en Elbow pain HP:0030835 rdfs:label nl Elleboog pijn CANDIDATE +en Electrical alternans HP:0025078 rdfs:label nl Elektrische alternans CANDIDATE +en Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials HP:0003482 IAO:0000115 nl Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials NOT_TRANSLATED +en Electron dense deposits at the glomerular basement membrane, HP:0004746 IAO:0000115 nl Electron dense deposits at the glomerular basement membrane, NOT_TRANSLATED +en Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect HP:0033500 IAO:0000115 nl Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect NOT_TRANSLATED +en Electron transfer flavoprotein-ubiquinone oxidoreductase defect HP:0003647 rdfs:label nl Electron transfer flavoprotein-ubiquinone oxidoreductase defect NOT_TRANSLATED +en Electron-dense deposits in the lamina densa with a ribbon or a sausage structure HP:0033499 IAO:0000115 nl Electron-dense deposits in the lamina densa with a ribbon or a sausage structure NOT_TRANSLATED +en Electron-dense granules within double membrane-bound cytoplasmic vacuoles HP:0002528 IAO:0000115 nl Electron-dense granules within double membrane-bound cytoplasmic vacuoles NOT_TRANSLATED +en Electronegative electroretinogram HP:0007984 rdfs:label nl Elektronegatief electroretinogram CANDIDATE +en Elevated 7-dehydrocholesterol HP:0010569 rdfs:label nl Verhoogd 7-dehydrocholesterol CANDIDATE +en Elevated 7-dehydrocholesterol levels HP:0010569 IAO:0000115 nl Elevated 7-dehydrocholesterol levels NOT_TRANSLATED +en Elevated 8(9)-cholestenol HP:0003465 rdfs:label nl Verhoogd 8(9)-cholestenol CANDIDATE +en Elevated 8-dehydrocholesterol HP:0003462 rdfs:label nl Verhoogd 8-dehydrocholesterol CANDIDATE +en Elevated CD4-positive, CD25-positive regulatory T cell count HP:0030337 rdfs:label nl Verhoogd aantal CD4-positieve, CD25-positieve regulerende T-cellen CANDIDATE +en Elevated CSF 4-hydroxybutyric acid concentration HP:0032532 rdfs:label nl Elevated CSF 4-hydroxybutyric acid concentration NOT_TRANSLATED +en Elevated CSF amyloid concentration HP:0030862 rdfs:label nl Verhoogd liquor amyloid niveau CANDIDATE +en Elevated CSF angiotensin-converting enzyme concentration HP:0034406 rdfs:label nl Elevated CSF angiotensin-converting enzyme concentration NOT_TRANSLATED +en Elevated CSF biopterin level HP:0040208 rdfs:label nl Verhoogd liquor biopterine niveau CANDIDATE +en Elevated CSF chitinase-3-like protein 1 concentration HP:0032651 rdfs:label nl Elevated CSF chitinase-3-like protein 1 concentration NOT_TRANSLATED +en Elevated CSF chitotriosidase 1 concentration HP:0032652 rdfs:label nl Elevated CSF chitotriosidase 1 concentration NOT_TRANSLATED +en Elevated CSF dopamine concentration HP:0012655 rdfs:label nl Verhoogd liquor dopamine niveau CANDIDATE +en Elevated CSF fumarate concentration HP:0033503 rdfs:label nl Elevated CSF fumarate concentration NOT_TRANSLATED +en Elevated CSF gamma-aminobutyric acid concentration HP:0032531 rdfs:label nl Elevated CSF gamma-aminobutyric acid concentration NOT_TRANSLATED +en Elevated CSF glial fibrillary acidic protein concentration HP:0032650 rdfs:label nl Elevated CSF glial fibrillary acidic protein concentration NOT_TRANSLATED +en Elevated CSF neopterin level HP:0040204 rdfs:label nl Verhoogd liquor neopterine niveau CANDIDATE +en Elevated CSF neurofilament light chain concentration HP:0032928 rdfs:label nl Elevated CSF neurofilament light chain concentration NOT_TRANSLATED +en Elevated MHC II surface expression HP:0031391 rdfs:label nl Toegenomen MHC II oppervlakte expressie CANDIDATE +en Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry HP:0032272 IAO:0000115 nl Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry NOT_TRANSLATED +en Elevated RV/TLC ratio HP:0033240 rdfs:label nl Elevated RV/TLC ratio NOT_TRANSLATED +en Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa HP:0033061 IAO:0000115 nl Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa NOT_TRANSLATED +en Elevated aldolase level HP:0012544 rdfs:label nl Verhoogd aldolase niveau CANDIDATE +en Elevated alkaline phosphatase of bone origin HP:0010639 rdfs:label nl Verhoogd alkalisch fosfatase met oorsprong van bot CANDIDATE +en Elevated alkaline phosphatase of hepatic origin HP:0010638 rdfs:label nl Verhoogd alkalisch fosfatase van hepatische oorsprong CANDIDATE +en Elevated alkaline phosphatase of renal origin HP:0010680 rdfs:label nl Verhoogd alkalisch fosfatase van renale oorsprong CANDIDATE +en Elevated alpha-fetoprotein HP:0006254 rdfs:label nl Verhoogd alfafoetoproteïne CANDIDATE +en Elevated amniotic fluid alpha-fetoprotein HP:0004639 rdfs:label nl Verhoogde alfafoetoproteïne in vruchtwater CANDIDATE +en Elevated amount of acetoacetic acid in the urine HP:0033407 IAO:0000115 nl Elevated amount of acetoacetic acid in the urine NOT_TRANSLATED +en Elevated amount of bile acids in the feces HP:0034043 IAO:0000115 nl Elevated amount of bile acids in the feces NOT_TRANSLATED +en Elevated amount of chloride in the stool HP:0034470 IAO:0000115 nl Elevated amount of chloride in the stool NOT_TRANSLATED +en Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry HP:0031133 IAO:0000115 nl Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry NOT_TRANSLATED +en Elevated brain N-acetyl aspartate level by MRS HP:0025053 rdfs:label nl Verhoogd brein N-acetylaspartaat niveau met MRS CANDIDATE +en Elevated brain choline level by MRS HP:0012706 rdfs:label nl Toegenomen brein choline niveau met MRS CANDIDATE +en Elevated brain creatine level by MRS HP:0025050 rdfs:label nl Toegenomen brein creatine niveau met MRS CANDIDATE +en Elevated brain glutamine level by MRS HP:0034495 rdfs:label nl Elevated brain glutamine level by MRS NOT_TRANSLATED +en Elevated brain glycine level by MRS HP:0034893 rdfs:label nl Verhoogd glycinegehalte in de hersenen door MRS OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated brain lactate level by MRS HP:0012707 rdfs:label nl Toegenomen brein lactaat niveau met MRS CANDIDATE +en Elevated bronchoalveolar lavage fluid eosinophil proportion HP:0032987 rdfs:label nl Elevated bronchoalveolar lavage fluid eosinophil proportion NOT_TRANSLATED +en Elevated bronchoalveolar lavage fluid lymphocyte proportion HP:0032976 rdfs:label nl Elevated bronchoalveolar lavage fluid lymphocyte proportion NOT_TRANSLATED +en Elevated bronchoalveolar lavage fluid neutrophil proportion HP:0032977 rdfs:label nl Elevated bronchoalveolar lavage fluid neutrophil proportion NOT_TRANSLATED +en Elevated calcitonin HP:0003528 rdfs:label nl Verhoogd calcitonine CANDIDATE +en Elevated cancer Ag 19-9 level HP:0032345 rdfs:label nl Elevated cancer Ag 19-9 level NOT_TRANSLATED +en Elevated carcinoembryonic antigen level HP:0031029 rdfs:label nl Verhoogd carcinoembryonisch antigeen niveau CANDIDATE +en Elevated carcinoma antigen 125 level HP:0031030 rdfs:label nl Verhoogd carcinoom antigeen 125 niveau CANDIDATE +en Elevated cholesterol ester level HP:0031211 rdfs:label nl Verhoogde cholesterol esters niveau CANDIDATE +en Elevated circulating 1-methylhistidine concentration HP:0033301 rdfs:label nl Elevated circulating 1-methylhistidine concentration NOT_TRANSLATED +en Elevated circulating 17-hydroxyprogesterone HP:0031213 rdfs:label nl Verhoogd circulerend 17-hydroxyprogesteron CANDIDATE +en Elevated circulating 2-hydroxybutyric acid concentration HP:0033418 rdfs:label nl Elevated circulating 2-hydroxybutyric acid concentration NOT_TRANSLATED +en Elevated circulating 3-hydroxybutyric acid concentration HP:0033419 rdfs:label nl Elevated circulating 3-hydroxybutyric acid concentration NOT_TRANSLATED +en Elevated circulating 3-hydroxylinoleylcarnitine concentration HP:0033461 rdfs:label nl Elevated circulating 3-hydroxylinoleylcarnitine concentration NOT_TRANSLATED +en Elevated circulating 3-hydroxypalmitoleylcarnitine concentration HP:0033464 rdfs:label nl Elevated circulating 3-hydroxypalmitoleylcarnitine concentration NOT_TRANSLATED +en Elevated circulating 3-methyl-2-oxovaleric acid concentration HP:0033436 rdfs:label nl Elevated circulating 3-methyl-2-oxovaleric acid concentration NOT_TRANSLATED +en Elevated circulating 3-methylhistidine concentration HP:0033157 rdfs:label nl Elevated circulating 3-methylhistidine concentration NOT_TRANSLATED +en Elevated circulating 4-hydroxyphenylacetic acid concentration HP:0033302 rdfs:label nl Elevated circulating 4-hydroxyphenylacetic acid concentration NOT_TRANSLATED +en Elevated circulating 4-methyl-2-oxopentanoic acid concentration HP:0033437 rdfs:label nl Elevated circulating 4-methyl-2-oxopentanoic acid concentration NOT_TRANSLATED +en Elevated circulating 5-oxoproline concentration HP:0033175 rdfs:label nl Elevated circulating 5-oxoproline concentration NOT_TRANSLATED +en Elevated circulating C-reactive protein concentration HP:0011227 rdfs:label nl Verhoogd C-reactief proteïne niveau CANDIDATE +en Elevated circulating CCL18 level HP:0032640 rdfs:label nl Elevated circulating CCL18 level NOT_TRANSLATED +en Elevated circulating CHI3L1 level HP:0033103 rdfs:label nl Elevated circulating CHI3L1 level NOT_TRANSLATED +en Elevated circulating D-dimer concentration HP:0033106 rdfs:label nl Elevated circulating D-dimer concentration NOT_TRANSLATED +en Elevated circulating E selectin level HP:0032240 rdfs:label nl Elevated circulating E selectin level NOT_TRANSLATED +en Elevated circulating L-alloisoleucine concentration HP:0033155 rdfs:label nl Elevated circulating L-alloisoleucine concentration NOT_TRANSLATED +en Elevated circulating N,N-dimethylglycine concentration HP:0031945 rdfs:label nl Elevated circulating N,N-dimethylglycine concentration NOT_TRANSLATED +en Elevated circulating S-sulfocysteine concentration HP:0034745 rdfs:label nl Verhoogde circulerende S-sulfocysteïneconcentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated circulating acetoacetic acid concentration HP:0033408 rdfs:label nl Elevated circulating acetoacetic acid concentration NOT_TRANSLATED +en Elevated circulating acetone concentration HP:0032533 rdfs:label nl Elevated circulating acetone concentration NOT_TRANSLATED +en Elevated circulating aconitic acid concentration HP:0033179 rdfs:label nl Elevated circulating aconitic acid concentration NOT_TRANSLATED +en Elevated circulating acylcarnitine concentration HP:0045045 rdfs:label nl Verhoogde plasma acylcarnitine niveaus CANDIDATE +en Elevated circulating alanine aminotransferase concentration HP:0031964 rdfs:label nl Elevated circulating alanine aminotransferase concentration NOT_TRANSLATED +en Elevated circulating alkaline phosphatase concentration HP:0003155 rdfs:label nl Verhoogd alkalisch fosfatase CANDIDATE +en Elevated circulating alpha-aminoadipic semialdehyde concentration HP:0034365 rdfs:label nl Elevated circulating alpha-aminoadipic semialdehyde concentration NOT_TRANSLATED +en Elevated circulating alpha-aminobutyric acid concentration HP:0033110 rdfs:label nl Elevated circulating alpha-aminobutyric acid concentration NOT_TRANSLATED +en Elevated circulating amyloid A HP:0033332 rdfs:label nl Elevated circulating amyloid A NOT_TRANSLATED +en Elevated circulating apolipoprotein A-II concentration HP:0031800 rdfs:label nl Elevated circulating apolipoprotein A-II concentration NOT_TRANSLATED +en Elevated circulating apolipoprotein A-IV concentration HP:0025202 rdfs:label nl Verhoogd apolipoproteïne A-IV niveau CANDIDATE +en Elevated circulating apolipoprotein B concentration HP:0031798 rdfs:label nl Elevated circulating apolipoprotein B concentration NOT_TRANSLATED +en Elevated circulating apolipoprotein C-III concentration HP:0033112 rdfs:label nl Elevated circulating apolipoprotein C-III concentration NOT_TRANSLATED +en Elevated circulating aspartate aminotransferase concentration HP:0031956 rdfs:label nl Elevated circulating aspartate aminotransferase concentration NOT_TRANSLATED +en Elevated circulating biliverdin concentration HP:0034383 rdfs:label nl Elevated circulating biliverdin concentration NOT_TRANSLATED +en Elevated circulating butyrylcarnitine concentration HP:0033446 rdfs:label nl Elevated circulating butyrylcarnitine concentration NOT_TRANSLATED +en Elevated circulating cartilage oligomeric matrix protein concentration HP:0033410 rdfs:label nl Elevated circulating cartilage oligomeric matrix protein concentration NOT_TRANSLATED +en Elevated circulating catecholamine level HP:0003334 rdfs:label nl Verhoogd circulerend catecholamine niveau CANDIDATE +en Elevated circulating creatine concentration HP:0034291 rdfs:label nl Elevated circulating creatine concentration NOT_TRANSLATED +en Elevated circulating creatine kinase concentration HP:0003236 rdfs:label nl Verhoogd serum creatine fosfokinase CANDIDATE +en Elevated circulating creatinine concentration HP:0003259 rdfs:label nl Verhoogd serum creatinine CANDIDATE +en Elevated circulating decenoylcarnitine concentration HP:0033439 rdfs:label nl Elevated circulating decenoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating deoxypyridinoline concentration HP:0033154 rdfs:label nl Elevated circulating deoxypyridinoline concentration NOT_TRANSLATED +en Elevated circulating deoxyuridine concentration HP:0034277 rdfs:label nl Elevated circulating deoxyuridine concentration NOT_TRANSLATED +en Elevated circulating desmosterol concentration HP:0034937 rdfs:label nl Verhoogde circulerende desmosterolconcentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated circulating dodecanoylcarnitine concentration HP:0033444 rdfs:label nl Elevated circulating dodecanoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating dodecenoylcarnitine concentration HP:0033153 rdfs:label nl Elevated circulating dodecenoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating erythropoietin concentration HP:0033644 rdfs:label nl Elevated circulating erythropoietin concentration NOT_TRANSLATED +en Elevated circulating follicle stimulating hormone level HP:0008232 rdfs:label nl Verhoogd circulerend follikelstimulerend hormoon niveau CANDIDATE +en Elevated circulating fumarate concentration HP:0033504 rdfs:label nl Elevated circulating fumarate concentration NOT_TRANSLATED +en Elevated circulating gamma-aminobutyric acid concentration HP:0410053 rdfs:label nl Elevated circulating gamma-aminobutyric acid concentration NOT_TRANSLATED +en Elevated circulating globotriaosylceramide concentration HP:0033595 rdfs:label nl Elevated circulating globotriaosylceramide concentration NOT_TRANSLATED +en Elevated circulating glutaric acid concentration HP:0003530 rdfs:label nl Glutaaracidurie CANDIDATE +en Elevated circulating glutarylcarnitine concentration HP:0033442 rdfs:label nl Elevated circulating glutarylcarnitine concentration NOT_TRANSLATED +en Elevated circulating glutathione concentration HP:0034456 rdfs:label nl Elevated circulating glutathione concentration NOT_TRANSLATED +en Elevated circulating glycolate concentration HP:0025641 rdfs:label nl Elevated circulating glycolate concentration NOT_TRANSLATED +en Elevated circulating growth hormone concentration HP:0000845 rdfs:label nl Groeihormoon overmaat CANDIDATE +en Elevated circulating guanidinoacetic acid concentration HP:0034321 rdfs:label nl Elevated circulating guanidinoacetic acid concentration NOT_TRANSLATED +en Elevated circulating hexacosanoic acid concentration HP:0034298 rdfs:label nl Elevated circulating hexacosanoic acid concentration NOT_TRANSLATED +en Elevated circulating hexanoylcarnitine concentration HP:0033441 rdfs:label nl Elevated circulating hexanoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating histamine concentration HP:0034446 rdfs:label nl Elevated circulating histamine concentration NOT_TRANSLATED +en Elevated circulating homovanillic acid concentration HP:0033324 rdfs:label nl Elevated circulating homovanillic acid concentration NOT_TRANSLATED +en Elevated circulating hydroxybutyric acid concentration HP:0033417 rdfs:label nl Elevated circulating hydroxybutyric acid concentration NOT_TRANSLATED +en Elevated circulating hydroxyphenlyllactic acid concentration HP:0033326 rdfs:label nl Elevated circulating hydroxyphenlyllactic acid concentration NOT_TRANSLATED +en Elevated circulating insulin:C-peptide ratio HP:0034384 rdfs:label nl Elevated circulating insulin:C-peptide ratio NOT_TRANSLATED +en Elevated circulating isovalerylcarnitine concentration HP:0033447 rdfs:label nl Elevated circulating isovalerylcarnitine concentration NOT_TRANSLATED +en Elevated circulating lathosterol concentration HP:0034936 rdfs:label nl Verhoogde circulerende lathosterolconcentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated circulating linoleylcarnitine concentration HP:0033484 rdfs:label nl Elevated circulating linoleylcarnitine concentration NOT_TRANSLATED +en Elevated circulating long chain fatty acid concentration HP:0003455 rdfs:label nl Verhoogde lange keten vetzuren CANDIDATE +en Elevated circulating luteinizing hormone level HP:0011969 rdfs:label nl Afgenomen circulerend niveau van het luteïniserend hormoon CANDIDATE +en Elevated circulating lyso-globotriaosylsphingosine concentration HP:0032657 rdfs:label nl Elevated circulating lyso-globotriaosylsphingosine concentration NOT_TRANSLATED +en Elevated circulating methylsuccinic acid concentration HP:0033146 rdfs:label nl Elevated circulating methylsuccinic acid concentration NOT_TRANSLATED +en Elevated circulating myoglobin concentration HP:0033438 rdfs:label nl Elevated circulating myoglobin concentration NOT_TRANSLATED +en Elevated circulating o-phosphoethanolamine concentration HP:0033406 rdfs:label nl Elevated circulating o-phosphoethanolamine concentration NOT_TRANSLATED +en Elevated circulating o-phosphoserine concentration HP:0033356 rdfs:label nl Elevated circulating o-phosphoserine concentration NOT_TRANSLATED +en Elevated circulating octenoylcarnitine concentration HP:0033440 rdfs:label nl Elevated circulating octenoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating oleylcarnitine concentration HP:0033462 rdfs:label nl Elevated circulating oleylcarnitine concentration NOT_TRANSLATED +en Elevated circulating osteopontin level HP:0033123 rdfs:label nl Elevated circulating osteopontin level NOT_TRANSLATED +en Elevated circulating palmitoleylcarnitine concentration HP:0031544 rdfs:label nl Verhoogd propionylcarnitine niveau CANDIDATE +en Elevated circulating palmitoylcarnitine concentration HP:0033382 rdfs:label nl Elevated circulating palmitoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating parathyroid hormone level HP:0003165 rdfs:label nl Verhoogd circulerend parathormoon niveau CANDIDATE +en Elevated circulating phytanic acid concentration HP:0010571 rdfs:label nl Verhoogde niveaus van fytaanzuur CANDIDATE +en Elevated circulating propionylcarnitine concentration HP:0033443 rdfs:label nl Elevated circulating propionylcarnitine concentration NOT_TRANSLATED +en Elevated circulating pyridinoline concentration HP:0033387 rdfs:label nl Elevated circulating pyridinoline concentration NOT_TRANSLATED +en Elevated circulating rT3/T3 ratio HP:0034289 rdfs:label nl Elevated circulating rT3/T3 ratio NOT_TRANSLATED +en Elevated circulating reverse T3 concentration HP:0034288 rdfs:label nl Elevated circulating reverse T3 concentration NOT_TRANSLATED +en Elevated circulating ribitol concentration HP:0025550 rdfs:label nl Verhoogde circulerende ribitol concentratie CANDIDATE +en Elevated circulating sacchoropine concentration HP:0034026 rdfs:label nl Elevated circulating sacchoropine concentration NOT_TRANSLATED +en Elevated circulating sebacic acid concentration HP:0033325 rdfs:label nl Elevated circulating sebacic acid concentration NOT_TRANSLATED +en Elevated circulating sitosterol concentration HP:0033341 rdfs:label nl Elevated circulating sitosterol concentration NOT_TRANSLATED +en Elevated circulating soluble CD25 concentration HP:0033833 rdfs:label nl Elevated circulating soluble CD25 concentration NOT_TRANSLATED +en Elevated circulating stearoylcarnitine concentration HP:0033381 rdfs:label nl Elevated circulating stearoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating suberic acid concentration HP:0033177 rdfs:label nl Elevated circulating suberic acid concentration NOT_TRANSLATED +en Elevated circulating succinate HP:0020149 rdfs:label nl Elevated circulating succinate NOT_TRANSLATED +en Elevated circulating tenascin-C level HP:0033115 rdfs:label nl Elevated circulating tenascin-C level NOT_TRANSLATED +en Elevated circulating tetracosanoic acid concentration HP:0034297 rdfs:label nl Elevated circulating tetracosanoic acid concentration NOT_TRANSLATED +en Elevated circulating tetradecanoyl concentration HP:0033465 IAO:0000115 nl Elevated circulating tetradecanoyl concentration NOT_TRANSLATED +en Elevated circulating tetradecanoylcarnitine concentration HP:0033465 rdfs:label nl Elevated circulating tetradecanoylcarnitine concentration NOT_TRANSLATED +en Elevated circulating tetradecenoylcarnitine concentration HP:6000476 rdfs:label nl Verhoogde circulerende tetradecenoylcarnitineconcentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated circulating thymidine concentration HP:0034276 rdfs:label nl Elevated circulating thymidine concentration NOT_TRANSLATED +en Elevated circulating thymine concentration HP:4000095 rdfs:label nl Elevated circulating thymine concentration NOT_TRANSLATED +en Elevated circulating thyroid-stimulating hormone concentration HP:0002925 rdfs:label nl Toegenomen TSH niveau CANDIDATE +en Elevated circulating tiglylglycine concentration HP:0034290 rdfs:label nl Elevated circulating tiglylglycine concentration NOT_TRANSLATED +en Elevated circulating transferrin concentration HP:0032386 rdfs:label nl Elevated circulating transferrin concentration NOT_TRANSLATED +en Elevated circulating tumor necrosis factor alpha concentration HP:6000239 rdfs:label nl Verhoogde circulerende tumornecrosefactor alfa concentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated circulating uracil concentration HP:0033139 rdfs:label nl Elevated circulating uracil concentration NOT_TRANSLATED +en Elevated circulating vitamin B6 level HP:0032477 rdfs:label nl Elevated circulating vitamin B6 level NOT_TRANSLATED +en Elevated coagulation factor V activity HP:0011996 rdfs:label nl Verhoogde factor V activiteit CANDIDATE +en Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein) HP:0033460 IAO:0000115 nl Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein) NOT_TRANSLATED +en Elevated concentration of SO4(2-), i.e., sulfate, in the urine HP:0012613 IAO:0000115 nl Elevated concentration of SO4(2-), i.e., sulfate, in the urine NOT_TRANSLATED +en Elevated concentration of beta-2-microglobulin in the blood HP:0025346 IAO:0000115 nl Elevated concentration of beta-2-microglobulin in the blood NOT_TRANSLATED +en Elevated concentration of ceruloplasmin in the blood circulation HP:0033145 IAO:0000115 nl Elevated concentration of ceruloplasmin in the blood circulation NOT_TRANSLATED +en Elevated concentration of galactose in the blood HP:0012024 IAO:0000115 nl Elevated concentration of galactose in the blood NOT_TRANSLATED +en Elevated concentration of galactose in the urine HP:0012023 IAO:0000115 nl Elevated concentration of galactose in the urine NOT_TRANSLATED +en Elevated concentration of gamma-aminobutyric acid in the urine HP:0500253 IAO:0000115 nl Elevated concentration of gamma-aminobutyric acid in the urine NOT_TRANSLATED +en Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation HP:0034298 IAO:0000115 nl Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation NOT_TRANSLATED +en Elevated concentration of hexanoylglycine in the urine HP:0500255 IAO:0000115 nl Elevated concentration of hexanoylglycine in the urine NOT_TRANSLATED +en Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine HP:0034201 IAO:0000115 nl Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine NOT_TRANSLATED +en Elevated concentration of hypoxanthine in the blood circulation HP:0034333 IAO:0000115 nl Elevated concentration of hypoxanthine in the blood circulation NOT_TRANSLATED +en Elevated concentration of isobutyrylglycine in the urine HP:0500257 IAO:0000115 nl Elevated concentration of isobutyrylglycine in the urine NOT_TRANSLATED +en Elevated concentration of sebacic acid in the urine HP:0500252 IAO:0000115 nl Elevated concentration of sebacic acid in the urine NOT_TRANSLATED +en Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation HP:0034297 IAO:0000115 nl Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation NOT_TRANSLATED +en Elevated creatine kinase after exercise HP:0008331 rdfs:label nl Verhoogd creatine kinase na het sporten CANDIDATE +en Elevated dermal desmosine content HP:0025083 rdfs:label nl Verhoogde dermale desmosine inhoud CANDIDATE +en Elevated diastolic blood pressure HP:0005117 rdfs:label nl Verhoogde diastolische bloeddruk CANDIDATE +en Elevated erythrocyte inosine triphosphate concentration HP:6000510 rdfs:label nl Verhoogde erytrocyt inosinetrifosfaatconcentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated erythrocyte sedimentation rate HP:0003565 rdfs:label nl Toegenomen bezinkingssnelheid van de erytrocyten CANDIDATE +en Elevated fecal osmolality HP:0032486 rdfs:label nl Elevated fecal osmolality NOT_TRANSLATED +en Elevated fecal pH HP:0032489 rdfs:label nl Elevated fecal pH NOT_TRANSLATED +en Elevated fecal sodium HP:0032484 rdfs:label nl Elevated fecal sodium NOT_TRANSLATED +en Elevated fetal middle cerebral artery peak systolic velocity HP:0034191 rdfs:label nl Elevated fetal middle cerebral artery peak systolic velocity NOT_TRANSLATED +en Elevated forced expiratory volume in one second HP:0033350 rdfs:label nl Elevated forced expiratory volume in one second NOT_TRANSLATED +en Elevated functional residual capacity HP:0033751 rdfs:label nl Elevated functional residual capacity NOT_TRANSLATED +en Elevated gamma-glutamyltransferase level HP:0030948 rdfs:label nl Elevated gamma-glutamyltransferase level NOT_TRANSLATED +en Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers HP:0030232 IAO:0000115 nl Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers NOT_TRANSLATED +en Elevated haptoglobin level HP:0020180 rdfs:label nl Elevated haptoglobin level NOT_TRANSLATED +en Elevated hemoglobin A1c HP:0040217 rdfs:label nl Verhoogd hemoglobine A1c CANDIDATE +en Elevated hepatic iron concentration HP:0012465 rdfs:label nl Verhoogde hepatische ijzer-concentratie CANDIDATE +en Elevated hepatic transaminase HP:0002910 rdfs:label nl Verhoogde hepatische transaminases CANDIDATE +en Elevated hepcidin level HP:0031877 rdfs:label nl Elevated hepcidin level NOT_TRANSLATED +en Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas HP:4000100 IAO:0000115 nl Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas NOT_TRANSLATED +en Elevated hypoxanthine-guanine phosphoribosyltransferase level HP:0031822 rdfs:label nl Elevated hypoxanthine-guanine phosphoribosyltransferase level NOT_TRANSLATED +en Elevated imprint of the transverse sinuses HP:0000930 rdfs:label nl Verhoogde afdruk van de dwarse sinussen CANDIDATE +en Elevated intestinal alkaline phosphatase HP:0010681 rdfs:label nl Verhoogde intestinaal alkalisch fosfatase CANDIDATE +en Elevated intracellular cystine HP:0003358 rdfs:label nl Verhoogde intracellulaire cystine CANDIDATE +en Elevated jugular venous pressure HP:0030848 rdfs:label nl Verhoogde vena jugularis druk CANDIDATE +en Elevated lactate:pyruvate ratio HP:0032653 rdfs:label nl Elevated lactate:pyruvate ratio NOT_TRANSLATED +en Elevated left atrial pressure HP:0031299 rdfs:label nl Verhoogde linker atriale druk CANDIDATE +en Elevated left ventricular end-diastolic diameter HP:0034307 rdfs:label nl Elevated left ventricular end-diastolic diameter NOT_TRANSLATED +en Elevated leukocyte alkaline phosphatase HP:0008318 rdfs:label nl Verhoogd alkalisch fosfatase van de leukocyten CANDIDATE +en Elevated leukocyte cystine HP:0032639 rdfs:label nl Elevated leukocyte cystine NOT_TRANSLATED +en Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation HP:0033300 IAO:0000115 nl Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation NOT_TRANSLATED +en Elevated levels of proline-containing dipeptides in urine HP:0033187 IAO:0000115 nl Elevated levels of proline-containing dipeptides in urine NOT_TRANSLATED +en Elevated maternal serum alpha-fetoprotein HP:0005984 rdfs:label nl Verhoogd maternaal serum alfafoetoproteïne CANDIDATE +en Elevated mean arterial pressure HP:0004972 rdfs:label nl Verhoogde gemiddelde arteriële druk CANDIDATE +en Elevated myocardial native T1 HP:4000006 rdfs:label nl Elevated myocardial native T1 NOT_TRANSLATED +en Elevated myocardial native T2 HP:4000003 rdfs:label nl Elevated myocardial native T2 NOT_TRANSLATED +en Elevated placental alkaline phosphatase HP:0010682 rdfs:label nl Verhoogd placenta alkalisch fosfatase CANDIDATE +en Elevated plasma branched chain amino acids HP:0008344 rdfs:label nl Verhoogde plasma vertakte keten aminozuren CANDIDATE +en Elevated plasma cell count HP:0025619 rdfs:label nl Elevated plasma cell count NOT_TRANSLATED +en Elevated plasma citrulline HP:0011966 rdfs:label nl Verhoogd plasma citrulline CANDIDATE +en Elevated plasma pyrophosphate HP:0011864 rdfs:label nl Verhoogd plasma pyrofosfaat CANDIDATE +en Elevated proportion of CD4+ effector memory T cells HP:0025625 rdfs:label nl Elevated proportion of CD4+ effector memory T cells NOT_TRANSLATED +en Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells HP:0002851 rdfs:label nl Verhoogd aantal CD4-negatieve, CD8-negatieve, alpha-beta regulatoire T-cellen CANDIDATE +en Elevated prostate-specific antigen level HP:0025020 rdfs:label nl Verhoogd PSA niveau CANDIDATE +en Elevated pulmonary artery pressure HP:0004890 rdfs:label nl Verhoogde druk in arteria pulmonalis CANDIDATE +en Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents HP:0040012 IAO:0000115 nl Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents NOT_TRANSLATED +en Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis HP:0012774 IAO:0000115 nl Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis NOT_TRANSLATED +en Elevated red cell adenosine deaminase level HP:0030270 rdfs:label nl Elevated red cell adenosine deaminase level NOT_TRANSLATED +en Elevated residual volume HP:0033251 rdfs:label nl Elevated residual volume NOT_TRANSLATED +en Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge HP:0011232 IAO:0000115 nl Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge NOT_TRANSLATED +en Elevated right atrial pressure HP:0005168 rdfs:label nl Verhoogde rechter atriale druk CANDIDATE +en Elevated right ventricular systolic pressure HP:0033119 rdfs:label nl Elevated right ventricular systolic pressure NOT_TRANSLATED +en Elevated serum 11-deoxycortisol HP:0025436 rdfs:label nl Verhoogd serum 11-deoxycortisol CANDIDATE +en Elevated serum acid phosphatase HP:0003148 rdfs:label nl Verhoogd serum zure fosfatase CANDIDATE +en Elevated serum anion gap HP:0031962 rdfs:label nl Elevated serum anion gap NOT_TRANSLATED +en Elevated serum bicarbonate concentration HP:0032067 rdfs:label nl Elevated serum bicarbonate concentration NOT_TRANSLATED +en Elevated serum transaminases during infections HP:0008150 rdfs:label nl Verhoogde serum transaminases tijdens infecties CANDIDATE +en Elevated sexual desire HP:0046503 IAO:0000115 nl Elevated sexual desire NOT_TRANSLATED +en Elevated sexual desire in female HP:0030019 IAO:0000115 nl Elevated sexual desire in female NOT_TRANSLATED +en Elevated stool chloride content HP:0034470 rdfs:label nl Elevated stool chloride content NOT_TRANSLATED +en Elevated sweat chloride HP:0012236 rdfs:label nl Verhoogd zweet chloride CANDIDATE +en Elevated systolic blood pressure HP:0004421 rdfs:label nl Verhoogde systolische bloeddruk CANDIDATE +en Elevated systolic blood pressure without an elevated blood pressure HP:0500106 IAO:0000115 nl Elevated systolic blood pressure without an elevated blood pressure NOT_TRANSLATED +en Elevated terminal:vellus ratio HP:0032496 rdfs:label nl Elevated terminal:vellus ratio NOT_TRANSLATED +en Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion HP:0030174 IAO:0000115 nl Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion NOT_TRANSLATED +en Elevated tissue non-specific alkaline phosphatase HP:0010679 rdfs:label nl Verhoogd weefsel aspecifiek alkalisch fosfatase CANDIDATE +en Elevated total serum tryptase HP:0031901 rdfs:label nl Elevated total serum tryptase NOT_TRANSLATED +en Elevated transferrin saturation HP:0012463 rdfs:label nl Verhoogde transferrine saturatie CANDIDATE +en Elevated umbilical artery pulsatility HP:0034223 rdfs:label nl Elevated umbilical artery pulsatility NOT_TRANSLATED +en Elevated urinary 2-hydroxybutyric acid HP:0033409 rdfs:label nl Elevated urinary 2-hydroxybutyric acid NOT_TRANSLATED +en Elevated urinary 3-hydroxybutyric acid HP:0040155 rdfs:label nl Verhoogd urine 3-hydroxybutyraat zuur CANDIDATE +en Elevated urinary 3-methylcrotonylglycine level HP:0033596 rdfs:label nl Elevated urinary 3-methylcrotonylglycine level NOT_TRANSLATED +en Elevated urinary 4-hydroxybutyric acid HP:0032528 rdfs:label nl Elevated urinary 4-hydroxybutyric acid NOT_TRANSLATED +en Elevated urinary 7-biopterin level HP:0033594 rdfs:label nl Elevated urinary 7-biopterin level NOT_TRANSLATED +en Elevated urinary L-glycerate level HP:6000670 rdfs:label nl Verhoogd L-glyceraatgehalte in urine OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated urinary N,N-dimethylglycine level HP:0031946 rdfs:label nl Elevated urinary N,N-dimethylglycine level NOT_TRANSLATED +en Elevated urinary N-acetylaspartic acid level HP:0032272 rdfs:label nl Elevated urinary N-acetylaspartic acid level NOT_TRANSLATED +en Elevated urinary N-butyrylglycine HP:0025638 rdfs:label nl Elevated urinary N-butyrylglycine NOT_TRANSLATED +en Elevated urinary aminoisobutyric acid HP:0045034 rdfs:label nl Verhoogd urine aminoisobutyric-zuur CANDIDATE +en Elevated urinary carboxylic acid HP:0040156 rdfs:label nl Verhoogd carbonzuur in urine CANDIDATE +en Elevated urinary catecholamines HP:0011976 rdfs:label nl Verhoogde urine catecholamines CANDIDATE +en Elevated urinary collagen degradation products HP:0033384 rdfs:label nl Elevated urinary collagen degradation products NOT_TRANSLATED +en Elevated urinary coproporphyrin level HP:6000536 rdfs:label nl Verhoogd coprofyrinegehalte in urine OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated urinary creatine level HP:0034598 rdfs:label nl Verhoogd creatinegehalte in urine OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated urinary cytidine HP:0032573 rdfs:label nl Elevated urinary cytidine NOT_TRANSLATED +en Elevated urinary delta-aminolevulinic acid HP:0003163 rdfs:label nl Verhoogd delta-aminolevulinezuuur CANDIDATE +en Elevated urinary dopamine HP:0011979 rdfs:label nl Verhoogde urine dopamine CANDIDATE +en Elevated urinary epinephrine HP:0003639 rdfs:label nl Verhoogd urinair epinefrine CANDIDATE +en Elevated urinary homogentisic acid HP:0033704 rdfs:label nl Elevated urinary homogentisic acid NOT_TRANSLATED +en Elevated urinary homovanillic acid HP:0011977 rdfs:label nl Verhoogd urine homovanille-zuur CANDIDATE +en Elevated urinary monocarboxylic acid level HP:0033303 rdfs:label nl Elevated urinary monocarboxylic acid level NOT_TRANSLATED +en Elevated urinary norepinephrine HP:0003345 rdfs:label nl Verhoogd urinair norepinefrine CANDIDATE +en Elevated urinary phenylpyruvic acid level HP:0034458 rdfs:label nl Elevated urinary phenylpyruvic acid level NOT_TRANSLATED +en Elevated urinary prostaglandin E2 level HP:0034049 rdfs:label nl Elevated urinary prostaglandin E2 level NOT_TRANSLATED +en Elevated urinary prostaglandin E2 metabolite level HP:0034050 rdfs:label nl Elevated urinary prostaglandin E2 metabolite level NOT_TRANSLATED +en Elevated urinary uridine level HP:0032574 rdfs:label nl Elevated urinary uridine level NOT_TRANSLATED +en Elevated urinary uromodulin HP:0020150 rdfs:label nl Elevated urinary uromodulin NOT_TRANSLATED +en Elevated urinary vanillylmandelic acid HP:0011978 rdfs:label nl Verhoogd urine vanillylmandelic zuur CANDIDATE +en Elevated urine 3,5,6-trichloro-2-pyridinol level HP:0034296 rdfs:label nl Elevated urine 3,5,6-trichloro-2-pyridinol level NOT_TRANSLATED +en Elevated urine 3-hydroxyglutaric level HP:0034656 rdfs:label nl Verhoogd 3-hydroxyglutaargehalte in de urine OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated urine 3-hydroxypropionic acid level HP:0034661 rdfs:label nl Verhoogd 3-hydroxypropionzuurgehalte in de urine OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated urine 3-methyl-2-oxovaleric acid level HP:0033457 rdfs:label nl Elevated urine 3-methyl-2-oxovaleric acid level NOT_TRANSLATED +en Elevated urine 4-methyl-2-oxopentanoic acid level HP:0033458 rdfs:label nl Elevated urine 4-methyl-2-oxopentanoic acid level NOT_TRANSLATED +en Elevated urine L-alloisoleucine level HP:0033156 rdfs:label nl Elevated urine L-alloisoleucine level NOT_TRANSLATED +en Elevated urine acetoacetic acid level HP:0033407 rdfs:label nl Elevated urine acetoacetic acid level NOT_TRANSLATED +en Elevated urine aconitic acid level HP:0033101 rdfs:label nl Elevated urine aconitic acid level NOT_TRANSLATED +en Elevated urine fumaric acid level HP:0034648 rdfs:label nl Verhoogd fumaarzuurgehalte in de urine OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Elevated urine glycolate HP:0031981 rdfs:label nl Elevated urine glycolate NOT_TRANSLATED +en Elevated urine keto acid level HP:0033456 rdfs:label nl Elevated urine keto acid level NOT_TRANSLATED +en Elevated urine kynurenine level HP:0034461 rdfs:label nl Elevated urine kynurenine level NOT_TRANSLATED +en Elevated urine mevalonic acid level HP:0032638 rdfs:label nl Elevated urine mevalonic acid level NOT_TRANSLATED +en Elevated urine pyridinoline level HP:0033385 rdfs:label nl Elevated urine pyridinoline level NOT_TRANSLATED +en Elevated urine pyrophosphate HP:0003491 rdfs:label nl Verhoogd urine pyrofosfaat CANDIDATE +en Elevated urine suberic acid level HP:0033213 rdfs:label nl Elevated urine suberic acid level NOT_TRANSLATED +en Elevated vascular endothelial growth factor level HP:0031052 rdfs:label nl Elevated vascular endothelial growth factor level NOT_TRANSLATED +en Elevation in the concentration of albumin in the blood HP:0012117 IAO:0000115 nl Elevation in the concentration of albumin in the blood NOT_TRANSLATED +en Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg HP:0033119 IAO:0000115 nl Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg NOT_TRANSLATED +en Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range HP:0033418 IAO:0000115 nl Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range NOT_TRANSLATED +en Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range HP:0033419 IAO:0000115 nl Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range NOT_TRANSLATED +en Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children HP:0033448 IAO:0000115 nl Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children NOT_TRANSLATED +en Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction HP:0033851 IAO:0000115 nl Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction NOT_TRANSLATED +en Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm) HP:0025075 IAO:0000115 nl Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm) NOT_TRANSLATED +en Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections HP:0008150 IAO:0000115 nl Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections NOT_TRANSLATED +en Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage HP:0002910 IAO:0000115 nl Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage NOT_TRANSLATED +en Elfin facies HP:0004428 rdfs:label nl Elfachtig gelaat CANDIDATE +en Elliptocytosis HP:0004445 rdfs:label nl Elliptocytose CANDIDATE +en Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein HP:0002626 IAO:0000115 nl Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein NOT_TRANSLATED +en Elongated chordae tendinae of the mitral valve HP:0025522 rdfs:label nl Elongated chordae tendinae of the mitral valve NOT_TRANSLATED +en Elongated curved (S-shaped) fibulae HP:0030045 IAO:0000115 nl Elongated curved (S-shaped) fibulae NOT_TRANSLATED +en Elongated femoral neck HP:0033985 rdfs:label nl Elongated femoral neck NOT_TRANSLATED +en Elongated radius HP:0006424 rdfs:label nl Verlengde radius CANDIDATE +en Elongated sella turcica HP:0005463 rdfs:label nl Verlengde sella turcica CANDIDATE +en Elongated superior cerebellar peduncle HP:0011933 rdfs:label nl Verlengde superieure cerebellaire peduncle CANDIDATE +en Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm HP:0020038 IAO:0000115 nl Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm NOT_TRANSLATED +en Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system HP:0033553 IAO:0000115 nl Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system NOT_TRANSLATED +en Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations HP:0033639 IAO:0000115 nl Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations NOT_TRANSLATED +en Embryonal neoplasm HP:0002898 rdfs:label nl Embryonaal neoplasma CANDIDATE +en Embryonal onset HP:0011460 rdfs:label nl Embryonale onset CANDIDATE +en Embryonal renal neoplasm HP:0011794 rdfs:label nl Embryonaal renaal neoplasma CANDIDATE +en Embryonal rhabdomyosarcoma HP:0006743 rdfs:label nl Embryonaal rhabdomyosarcoom CANDIDATE +en Emotional blunting HP:0030213 rdfs:label nl Emotional blunting NOT_TRANSLATED +en Emotional hypersensitivity HP:0041092 rdfs:label nl Emotional hypersensitivity NOT_TRANSLATED +en Emotional insecurity HP:0033625 rdfs:label nl Emotional insecurity NOT_TRANSLATED +en Emotional lability HP:0000712 rdfs:label nl Emotionele labiliteit CANDIDATE +en Emphysema HP:0002097 rdfs:label nl Emfyseem CANDIDATE +en Empty delta sign HP:0032267 rdfs:label nl Empty delta sign NOT_TRANSLATED +en Empty ovarian follicle HP:0031067 rdfs:label nl Lege ovariële follikel CANDIDATE +en Empty sella turcica HP:6000483 rdfs:label nl Lege sella turcica OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Enamel agenesis HP:0033785 rdfs:label nl Enamel agenesis NOT_TRANSLATED +en Enamel hypomineralization HP:0006285 rdfs:label nl Hypomineralizatie van glazuur CANDIDATE +en Enamel hypoplasia HP:0006297 rdfs:label nl Hypoplasie van het glazuur van de tand CANDIDATE +en Enamel pearls HP:0033776 rdfs:label nl Enamel pearls NOT_TRANSLATED +en Enamel with a white or brown discoloration without hypoplasia HP:0033786 IAO:0000115 nl Enamel with a white or brown discoloration without hypoplasia NOT_TRANSLATED +en Enanthema HP:0030249 rdfs:label nl Enantheem CANDIDATE +en Encephalitis caused by bacterial infection HP:0034387 IAO:0000115 nl Encephalitis caused by bacterial infection NOT_TRANSLATED +en Encephalocele HP:0002084 rdfs:label nl Encefalocele CANDIDATE +en Encephalomalacia HP:0040197 rdfs:label nl Encefalomalacie CANDIDATE +en Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury HP:0040197 IAO:0000115 nl Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury NOT_TRANSLATED +en Encephalopathy HP:0001298 rdfs:label nl Encefalopathie CANDIDATE +en Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state HP:0001298 IAO:0000115 nl Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state NOT_TRANSLATED +en Encephalopathy with onset in the infantile period HP:0007105 IAO:0000115 nl Encephalopathy with onset in the infantile period NOT_TRANSLATED +en Enchondroma HP:0030038 rdfs:label nl Enchondroom CANDIDATE +en Encopresis HP:0040183 rdfs:label nl Encoprese CANDIDATE +en Encysted hydrocele of the cord HP:4000036 rdfs:label nl Encysted hydrocele of the cord NOT_TRANSLATED +en Endocardial fibroelastosis HP:0001706 rdfs:label nl Endocardiale fibroelastose CANDIDATE +en Endocardial fibrosis HP:0006685 rdfs:label nl Endocardiale fibrose CANDIDATE +en Endocarditis HP:0100584 rdfs:label nl Endocarditis CANDIDATE +en Endocrine-type tubular atrophy HP:0032609 rdfs:label nl Endocrine-type tubular atrophy NOT_TRANSLATED +en Endogenous lipoid pneumonia HP:0033365 rdfs:label nl Endogenous lipoid pneumonia NOT_TRANSLATED +en Endolymphatic sac tumor HP:0030393 rdfs:label nl Endolymfatische zak tumor CANDIDATE +en Endometrial carcinoma HP:0012114 rdfs:label nl Endometriumcarcinoom CANDIDATE +en Endometriosis HP:0030127 rdfs:label nl Endometriose CANDIDATE +en Endometritis HP:0025636 rdfs:label nl Endometritis NOT_TRANSLATED +en Endopolyploidy on chromosome studies of bone marrow HP:0003352 rdfs:label nl Endopolyploïdie op chromosoomonderzoek van beenmerg CANDIDATE +en Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger HP:0031472 IAO:0000115 nl Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger NOT_TRANSLATED +en Enhanced neurotoxicity of vincristine HP:0003009 rdfs:label nl Verhoogde neurotoxiciteit van vincristine CANDIDATE +en Enhanced ristocetin cofactor assay activity HP:0030136 rdfs:label nl Verbeterde ristocetine-cofactor assay activiteit CANDIDATE +en Enhancement of the C-reflex HP:0001340 rdfs:label nl Verbetering van de C-reflex CANDIDATE +en Enlarged Eustachian valve HP:0031591 rdfs:label nl Vergrote klep van Eustachius CANDIDATE +en Enlarged amygdala HP:0033669 rdfs:label nl Enlarged amygdala NOT_TRANSLATED +en Enlarged and tortuous veins HP:0002619 IAO:0000115 nl Enlarged and tortuous veins NOT_TRANSLATED +en Enlarged brainstem HP:0012755 rdfs:label nl Vergrote hersenstam CANDIDATE +en Enlarged cerebellum HP:0012081 rdfs:label nl Vergroot cerebellum CANDIDATE +en Enlarged cisterna magna HP:0002280 rdfs:label nl Vergrote cisterna magna CANDIDATE +en Enlarged cochlear aqueduct HP:0011388 rdfs:label nl Vergroot cochleair aquaduct CANDIDATE +en Enlarged epididymis HP:0034479 rdfs:label nl Enlarged epididymis NOT_TRANSLATED +en Enlarged epiphyses HP:0010580 rdfs:label nl Vergrote epifysen CANDIDATE +en Enlarged epiphyses of the 2nd finger HP:0009491 rdfs:label nl Vergrote epifysen van de 2e vinger CANDIDATE +en Enlarged epiphyses of the 2nd toe HP:0100047 rdfs:label nl Vergrote epifysen van de 2e teen CANDIDATE +en Enlarged epiphyses of the 3rd finger HP:0009413 rdfs:label nl Vergrote epifysen van de 3e vinger CANDIDATE +en Enlarged epiphyses of the 3rd toe HP:0100058 rdfs:label nl Vergrote epifysen van de 3e teen CANDIDATE +en Enlarged epiphyses of the 4th finger HP:0009396 rdfs:label nl Vergrote epifysen van de 4e vinger CANDIDATE +en Enlarged epiphyses of the 4th toe HP:0100069 rdfs:label nl Vergrote epifysen van de 4e teen CANDIDATE +en Enlarged epiphyses of the 5th finger HP:0009385 rdfs:label nl Vergrote epifysen van de 5e vinger CANDIDATE +en Enlarged epiphyses of the 5th toe HP:0100080 rdfs:label nl Vergrote epifysen van de 5e teen CANDIDATE +en Enlarged epiphyses of the distal phalanges of the hand HP:0010249 rdfs:label nl Vergrote epifysen van distale falangen van hand CANDIDATE +en Enlarged epiphyses of the hallux HP:0010116 rdfs:label nl Vergrote epifysen van de hallux CANDIDATE +en Enlarged epiphyses of the middle phalanges of the hand HP:0010260 rdfs:label nl Vergrote epifysen van middelste falangen van hand CANDIDATE +en Enlarged epiphyses of the phalanges of the hand HP:0010231 rdfs:label nl Vergrote epifysen van falangen van hand CANDIDATE +en Enlarged epiphyses of the proximal phalanges of the hand HP:0010271 rdfs:label nl Vergrote epifysen van proximale falangen van hand CANDIDATE +en Enlarged epiphyses of the toes HP:0010165 rdfs:label nl Vergrote epifysen van de tenen CANDIDATE +en Enlarged epiphysis of the 1st metacarpal HP:0010018 rdfs:label nl Vergrote epifyse van de 1e metacarpaal CANDIDATE +en Enlarged epiphysis of the 1st metatarsal HP:0010152 rdfs:label nl Vergrote epifyse van de 1e metatarsaal CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 2nd finger HP:0009505 rdfs:label nl Vergrote epifyse van de distale falanx van de 2e vinger CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 2nd toe HP:0100103 rdfs:label nl Vergrote epifyse van de distale falanx van de 2e teen CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 3rd finger HP:0009338 rdfs:label nl Vergrote epifyse van de distale falanx van de 3e vinger CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 3rd toe HP:0100138 rdfs:label nl Vergrote epifyse van de distale falanx van de 3e teen CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 4th finger HP:0009253 rdfs:label nl Vergrote epifyse van de distale falanx van de 4e vinger CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 4th toe HP:0100172 rdfs:label nl Vergrote epifyse van de distale falanx van de 4e teen CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 5th finger HP:0009147 rdfs:label nl Vergrote epifyse van de distale falanx van de 5e vinger CANDIDATE +en Enlarged epiphysis of the distal phalanx of the 5th toe HP:0100205 rdfs:label nl Vergrote epifyse van de distale falanx van de 5e teen CANDIDATE +en Enlarged epiphysis of the distal phalanx of the hallux HP:0010141 rdfs:label nl Vergrote epifyse van de distale falanx van de hallux CANDIDATE +en Enlarged epiphysis of the distal phalanx of the thumb HP:0009678 rdfs:label nl Vergrote epifyse van de distale falanx van de duim CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 2nd finger HP:0009516 rdfs:label nl Vergrote epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 2nd toe HP:0100114 rdfs:label nl Vergrote epifyse van de middelste falanx van de 2e teen CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 3rd finger HP:0009324 rdfs:label nl Vergrote epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 3rd toe HP:0100149 rdfs:label nl Vergrote epifyse van de middelste falanx van de 3e teen CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 4th finger HP:0009217 rdfs:label nl Vergrote epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 4th toe HP:0100183 rdfs:label nl Vergrote epifyse van de middelste falanx van de 4e teen CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 5th finger HP:0009206 rdfs:label nl Vergrote epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Enlarged epiphysis of the middle phalanx of the 5th toe HP:0100216 rdfs:label nl Vergrote epifyse van de middelste falanx van de 5e teen CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 2nd finger HP:0009527 rdfs:label nl Vergrote epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 2nd toe HP:0100125 rdfs:label nl Vergrote epifyse van de proximale falanx van de 2e teen CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 3rd finger HP:0009349 rdfs:label nl Vergrote epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 3rd toe HP:0100160 rdfs:label nl Vergrote epifyse van de proximale falanx van de 3e teen CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 4th finger HP:0009264 rdfs:label nl Vergrote epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 4th toe HP:0100194 rdfs:label nl Vergrote epifyse van de proximale falanx van de 4e teen CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 5th finger HP:0009158 rdfs:label nl Vergrote epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the 5th toe HP:0100227 rdfs:label nl Vergrote epifyse van de proximale falanx van de 5e teen CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the hallux HP:0010130 rdfs:label nl Vergrote epifyse van de proximale falanx van de hallux CANDIDATE +en Enlarged epiphysis of the proximal phalanx of the thumb HP:0009667 rdfs:label nl Vergrote epifyse van de proximale falanx van de duim CANDIDATE +en Enlarged fetal cisterna magna HP:0011427 rdfs:label nl Vergrote foetale cisterna magna CANDIDATE +en Enlarged flash visual evoked potentials HP:0008045 rdfs:label nl Enlarged flash visual evoked potentials NOT_TRANSLATED +en Enlarged fossa interpeduncularis HP:0100951 rdfs:label nl Vergrote fossa interpeduncularis CANDIDATE +en Enlarged hippocampus HP:0100961 rdfs:label nl Vergrote hippocampus CANDIDATE +en Enlarged humeral metaphyses HP:0003910 rdfs:label nl Vergrote metafysen van de humerus CANDIDATE +en Enlarged interhemispheric fissure HP:0100953 rdfs:label nl Vergrote interhemisferische fissuur CANDIDATE +en Enlarged interphalangeal joints HP:0006247 rdfs:label nl Vergrote interfalangeale gewrichten CANDIDATE +en Enlarged joints HP:0003037 rdfs:label nl Vergrote gewrichten CANDIDATE +en Enlarged kidney HP:0000105 rdfs:label nl Vergrote nier CANDIDATE +en Enlarged labia minora HP:0008683 rdfs:label nl Vergrote labia minora CANDIDATE +en Enlarged lacrimal glands HP:0007734 rdfs:label nl Vergrote traanklieren CANDIDATE +en Enlarged lymph nodes in the neck HP:0025289 IAO:0000115 nl Enlarged lymph nodes in the neck NOT_TRANSLATED +en Enlarged mesenteric lymph node HP:0025043 rdfs:label nl Vergrote mesenterische lymfeknopen CANDIDATE +en Enlarged metacarpal epiphyses HP:0006134 rdfs:label nl Vergrote metacarpale epifysen CANDIDATE +en Enlarged metacarpophalangeal joints HP:0006163 rdfs:label nl Vergrote metacarpofalangeale gewrichten CANDIDATE +en Enlarged metaphyses HP:0003051 rdfs:label nl Vergrote metafyses CANDIDATE +en Enlarged naris HP:0009931 rdfs:label nl Vergrote neusgaten CANDIDATE +en Enlarged ovaries HP:0100879 rdfs:label nl Vergrote ovaria CANDIDATE +en Enlarged peripheral nerve HP:0012645 rdfs:label nl Vergrote perifere zenuw CANDIDATE +en Enlarged pituitary gland HP:0012505 rdfs:label nl Vergrote hypofyse CANDIDATE +en Enlarged platelet dense granules HP:0033264 rdfs:label nl Enlarged platelet dense granules NOT_TRANSLATED +en Enlarged polycystic ovaries HP:0008675 rdfs:label nl Vergrote polycysteuze ovaria CANDIDATE +en Enlarged posterior fossa HP:0005445 rdfs:label nl Verwijde posterieure fossa CANDIDATE +en Enlarged proximal interphalangeal joints HP:0006185 rdfs:label nl Vergrote proximale interfalangeale gewrichten CANDIDATE +en Enlarged sagittal diameter of the cervical canal HP:0005878 rdfs:label nl Vergrote sagittale diameter van cervicale kanaal CANDIDATE +en Enlarged semicircular canal HP:0011383 rdfs:label nl Vergroot van de semicirculaire kanaal CANDIDATE +en Enlarged sylvian cistern HP:0100952 rdfs:label nl Enlarged sylvian cistern NOT_TRANSLATED +en Enlarged tectum HP:0034405 rdfs:label nl Enlarged tectum NOT_TRANSLATED +en Enlarged thalamic volume HP:0012694 rdfs:label nl Vergroot thalamus volume CANDIDATE +en Enlarged thorax HP:0100625 rdfs:label nl Vergrote thorax CANDIDATE +en Enlarged thumb epiphysis HP:0009689 rdfs:label nl Vergrote epifyse van de duim CANDIDATE +en Enlarged tonsils HP:0030812 rdfs:label nl Vergrote tonsillen CANDIDATE +en Enlarged uterus HP:0100878 rdfs:label nl Vergrote uterus CANDIDATE +en Enlarged vertebral pedicles HP:0004621 rdfs:label nl Vergrote vertebrale pedikels CANDIDATE +en Enlarged vestibular aqueduct HP:0011387 rdfs:label nl Vergroot vestibulair aquaduct CANDIDATE +en Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain HP:0032551 IAO:0000115 nl Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain NOT_TRANSLATED +en Enlarged, oval-shaped erythrocytes (red blood cells) HP:0032566 IAO:0000115 nl Enlarged, oval-shaped erythrocytes (red blood cells) NOT_TRANSLATED +en Enlargement of all or parts of one cerebral hemisphere HP:0007206 IAO:0000115 nl Enlargement of all or parts of one cerebral hemisphere NOT_TRANSLATED +en Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling HP:0033902 IAO:0000115 nl Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling NOT_TRANSLATED +en Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling HP:0033953 IAO:0000115 nl Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling NOT_TRANSLATED +en Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen HP:0033274 IAO:0000115 nl Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen NOT_TRANSLATED +en Enlargement of lymph nodes surrounding the trachea HP:0033280 IAO:0000115 nl Enlargement of lymph nodes surrounding the trachea NOT_TRANSLATED +en Enlargement of parotid gland HP:0011801 rdfs:label nl Vergroting van de glandula parotis CANDIDATE +en Enlargement of the adrenal gland HP:0008221 IAO:0000115 nl Enlargement of the adrenal gland NOT_TRANSLATED +en Enlargement of the ankles HP:0003029 rdfs:label nl Vergroting van de enkels CANDIDATE +en Enlargement of the anterior fontanelle with respect to age-dependent norms HP:0000260 IAO:0000115 nl Enlargement of the anterior fontanelle with respect to age-dependent norms NOT_TRANSLATED +en Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy HP:0001714 IAO:0000115 nl Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy NOT_TRANSLATED +en Enlargement of the chamber of the left heart ventricle HP:4000141 IAO:0000115 nl Enlargement of the chamber of the left heart ventricle NOT_TRANSLATED +en Enlargement of the chamber of the right ventricle HP:0005133 IAO:0000115 nl Enlargement of the chamber of the right ventricle NOT_TRANSLATED +en Enlargement of the costochondral junction HP:0000920 rdfs:label nl Vergroting van de costochondrale verbinding CANDIDATE +en Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel HP:0030882 IAO:0000115 nl Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel NOT_TRANSLATED +en Enlargement of the distal femoral epiphysis HP:0006438 rdfs:label nl Vergroting van de distale epifyse van femur CANDIDATE +en Enlargement of the large blood vessels in the choroid HP:0030979 IAO:0000115 nl Enlargement of the large blood vessels in the choroid NOT_TRANSLATED +en Enlargement of the lip typically due to fluid buildup or inflammation HP:0031244 IAO:0000115 nl Enlargement of the lip typically due to fluid buildup or inflammation NOT_TRANSLATED +en Enlargement of the muscles of the calf due to their replacement by connective tissue or fat HP:0003707 IAO:0000115 nl Enlargement of the muscles of the calf due to their replacement by connective tissue or fat NOT_TRANSLATED +en Enlargement of the proximal femoral epiphysis HP:0003371 rdfs:label nl Vergroting van de proximale femorale epifyse CANDIDATE +en Enlargement of the soft tissues of one or more fingers HP:0025131 IAO:0000115 nl Enlargement of the soft tissues of one or more fingers NOT_TRANSLATED +en Enlargement of the thymus HP:0010516 IAO:0000115 nl Enlargement of the thymus NOT_TRANSLATED +en Enlargement of the thyroid gland related to a singular nodule in the thyroid gland HP:0011773 IAO:0000115 nl Enlargement of the thyroid gland related to a singular nodule in the thyroid gland NOT_TRANSLATED +en Enlargement of the thyroid gland related to multiple nodules in the thyroid gland HP:0005987 IAO:0000115 nl Enlargement of the thyroid gland related to multiple nodules in the thyroid gland NOT_TRANSLATED +en Enlargement of the thyroid gland related to one or more nodules in the thyroid gland HP:0005994 IAO:0000115 nl Enlargement of the thyroid gland related to one or more nodules in the thyroid gland NOT_TRANSLATED +en Enlargement of the wrists HP:0003020 rdfs:label nl Vergroting van de pols CANDIDATE +en Enlargement or increased size of the heart left ventricle HP:0001712 IAO:0000115 nl Enlargement or increased size of the heart left ventricle NOT_TRANSLATED +en Enlargment (swelling) of a lymph node HP:0002716 IAO:0000115 nl Enlargment (swelling) of a lymph node NOT_TRANSLATED +en Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM HP:0033686 IAO:0000115 nl Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM NOT_TRANSLATED +en Enteric intraneuronal nuclear inclusion bodies HP:0030938 rdfs:label nl Enterische intraneuronale nucleaire inclusielichaampjes CANDIDATE +en Enteric neuronal degeneration HP:0025030 rdfs:label nl Enterische neuronale degeneratie CANDIDATE +en Enterocolitis HP:0004387 rdfs:label nl Enterocolitis CANDIDATE +en Enterocutaneous fistula HP:0033279 rdfs:label nl Enterocutaneous fistula NOT_TRANSLATED +en Enteroviral dermatomyositis syndrome HP:0003729 rdfs:label nl Enteroviraal dermatomyositis syndroom CANDIDATE +en Enteroviral encephalitis HP:0034285 rdfs:label nl Enteroviral encephalitis NOT_TRANSLATED +en Enteroviral hepatitis HP:0001412 rdfs:label nl Enterovirale hepatitis CANDIDATE +en Enthesitis HP:0100686 rdfs:label nl Enthesitis CANDIDATE +en Entrapment neuropathy HP:0012181 rdfs:label nl Entrapment neuropathie CANDIDATE +en Entrapment neuropathy of suprascapular nerve HP:0012216 rdfs:label nl Entrapment neuropathie van de nervus suprascapularis CANDIDATE +en Entrapment neuropathy of the ulnar nerve at elbow HP:0012186 rdfs:label nl Entrapment neuropathie van de nervus ulnaris bij de elleboog CANDIDATE +en Entropion HP:0000621 rdfs:label nl Entropion CANDIDATE +en Enuresis HP:0000805 rdfs:label nl Enurese CANDIDATE +en Enuresis diurna HP:0010678 rdfs:label nl Enuresis diurna CANDIDATE +en Enuresis nocturna HP:0010677 rdfs:label nl Enuresis nocturna CANDIDATE +en Enuresis occurring during sleeping hours HP:0010677 IAO:0000115 nl Enuresis occurring during sleeping hours NOT_TRANSLATED +en Enuresis occurring during waking hours of the day HP:0010678 IAO:0000115 nl Enuresis occurring during waking hours of the day NOT_TRANSLATED +en Eosinophil infiltration of skeletal muscle HP:0032019 IAO:0000115 nl Eosinophil infiltration of skeletal muscle NOT_TRANSLATED +en Eosinophil nuclear hypersegmentation HP:0034253 rdfs:label nl Eosinophil nuclear hypersegmentation NOT_TRANSLATED +en Eosinophilia HP:0001880 rdfs:label nl Eosinofilie CANDIDATE +en Eosinophilic ascites HP:0031780 rdfs:label nl Eosinophilic ascites NOT_TRANSLATED +en Eosinophilic bladder infiltration HP:0032020 rdfs:label nl Eosinophilic bladder infiltration NOT_TRANSLATED +en Eosinophilic dermal infiltration HP:0032022 rdfs:label nl Eosinophilic dermal infiltration NOT_TRANSLATED +en Eosinophilic fasciitis HP:0045029 rdfs:label nl Eosinofiele fasciitis CANDIDATE +en Eosinophilic gallbladder infiltration HP:0032023 rdfs:label nl Eosinophilic gallbladder infiltration NOT_TRANSLATED +en Eosinophilic granuloma HP:0032253 rdfs:label nl Eosinophilic granuloma NOT_TRANSLATED +en Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant HP:0025115 IAO:0000115 nl Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant NOT_TRANSLATED +en Eosinophilic infiltration in the stomach mucosa HP:0410147 rdfs:label nl Eosinophilic infiltration in the stomach mucosa NOT_TRANSLATED +en Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them HP:0032064 IAO:0000115 nl Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them NOT_TRANSLATED +en Eosinophilic infiltration of the esophagus HP:0410151 rdfs:label nl Eosinophilic infiltration of the esophagus NOT_TRANSLATED +en Eosinophilic liver infiltration HP:0032021 rdfs:label nl Eosinophilic liver infiltration NOT_TRANSLATED +en Eosinophilic microabscess formation in the esophagus HP:0410152 rdfs:label nl Eosinophilic microabscess formation in the esophagus NOT_TRANSLATED +en Eosinophilic pneumonia HP:0032071 rdfs:label nl Eosinophilic pneumonia NOT_TRANSLATED +en Ependymoblastoma HP:0030066 rdfs:label nl Ependymoblastoom CANDIDATE +en Ependymoma HP:0002888 rdfs:label nl Ependymoom CANDIDATE +en Epiblepharon HP:0011225 rdfs:label nl Epiblefaron CANDIDATE +en Epiblepharon of lower lid HP:0040151 rdfs:label nl Epiblepharon van onderste ooglid CANDIDATE +en Epiblepharon of upper lid HP:0040150 rdfs:label nl Epiblepharon van bovenste ooglid CANDIDATE +en Epicanthus HP:0000286 rdfs:label nl Epicanthus CANDIDATE +en Epicanthus inversus HP:0000537 rdfs:label nl Epicanthus inversus CANDIDATE +en Epicanthus palpebralis HP:0031770 rdfs:label nl Epicanthus palpebralis CANDIDATE +en Epicanthus superciliaris HP:0025611 rdfs:label nl Epicanthus superciliaris CANDIDATE +en Epicanthus tarsalis HP:0031771 rdfs:label nl Epicanthus tarsalis CANDIDATE +en Epidermal acanthosis HP:0025092 rdfs:label nl Epidermale acanthose CANDIDATE +en Epidermal hyperkeratosis HP:0007543 rdfs:label nl Epidermale hyperkeratose CANDIDATE +en Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood HP:0010816 IAO:0000115 nl Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood NOT_TRANSLATED +en Epidermal nevus HP:0010816 rdfs:label nl Epidermale naevus CANDIDATE +en Epidermal thickening HP:0011368 rdfs:label nl Epidermale verdikking CANDIDATE +en Epidermoid cyst HP:0200040 rdfs:label nl Epidermoïd cyste CANDIDATE +en Epididymal cyst HP:0030424 rdfs:label nl Epididymale cyste CANDIDATE +en Epididymal neoplasm HP:0030421 rdfs:label nl Epididymaal neoplasma CANDIDATE +en Epididymitis HP:0000031 rdfs:label nl Epididymitis CANDIDATE +en Epidural hemorrhage HP:0100310 rdfs:label nl Epidurale bloeding CANDIDATE +en Epigastric pain HP:0410019 rdfs:label nl Epigastrische pijn CANDIDATE +en Epignathus HP:0030767 rdfs:label nl Epignathus CANDIDATE +en Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate HP:0030767 IAO:0000115 nl Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate NOT_TRANSLATED +en Epilepsia partialis continua HP:0012847 rdfs:label nl Epilepsia partialis continua CANDIDATE +en Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years) HP:0012847 IAO:0000115 nl Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years) NOT_TRANSLATED +en Epileptic aura HP:0033348 rdfs:label nl Epileptic aura NOT_TRANSLATED +en Epileptic encephalopathy HP:0200134 rdfs:label nl Epileptische encefalopathie CANDIDATE +en Epileptic spasm HP:0011097 rdfs:label nl Epileptische spasmen CANDIDATE +en Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure HP:0011182 IAO:0000115 nl Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure NOT_TRANSLATED +en Epileptiform discharges being identified at multiple locations in both hemispheres HP:0011189 IAO:0000115 nl Epileptiform discharges being identified at multiple locations in both hemispheres NOT_TRANSLATED +en Epileptiform discharges being identified at multiple locations in one hemisphere HP:0011191 IAO:0000115 nl Epileptiform discharges being identified at multiple locations in one hemisphere NOT_TRANSLATED +en Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere HP:0011190 IAO:0000115 nl Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere NOT_TRANSLATED +en Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0010858 IAO:0000115 nl Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en Epiphora HP:0009926 rdfs:label nl Epiphora CANDIDATE +en Epiphyseal deformities of tubular bones HP:0003053 rdfs:label nl Epifysaire deformiteiten van de pijpbeenderen CANDIDATE +en Epiphyseal dysplasia HP:0002656 rdfs:label nl Epifysaire dysplasie CANDIDATE +en Epiphyseal stippling HP:0010655 rdfs:label nl Epifysaire vlekkerige calcificatie CANDIDATE +en Epiphyseal stippling of finger phalanges HP:0010237 rdfs:label nl Epifsyaire vlekkerige calcificaties van falangen van hand CANDIDATE +en Epiphyseal stippling of the first metacarpal HP:0010024 rdfs:label nl Epifsyaire vlekkerige calcificaties van eerste metacarpaal CANDIDATE +en Epiphyseal stippling of the humerus HP:0003902 rdfs:label nl Epifsyaire vlekkerige calcificaties van de humerus CANDIDATE +en Epiphyseal stippling of the metacarpals HP:0009195 rdfs:label nl Epifsyaire vlekkerige calcificaties van metacarpalen CANDIDATE +en Epiphyseal stippling of toe phalanges HP:0010171 rdfs:label nl Epifsyaire vlekkerige calcificaties van teenfalangen CANDIDATE +en Epiphyseal streaking HP:0004990 rdfs:label nl Epifysaire strepen CANDIDATE +en Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs HP:0100050 IAO:0000115 nl Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs HP:0100061 IAO:0000115 nl Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs HP:0100072 IAO:0000115 nl Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs HP:0100083 IAO:0000115 nl Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs HP:0010263 IAO:0000115 nl Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs HP:0010274 IAO:0000115 nl Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en Epiphysis of the 1st metacarpal having multiple bony fragments HP:0010019 IAO:0000115 nl Epiphysis of the 1st metacarpal having multiple bony fragments NOT_TRANSLATED +en Epiphysis of the distal phalanx of the thumb having multiple bony fragments HP:0009679 IAO:0000115 nl Epiphysis of the distal phalanx of the thumb having multiple bony fragments NOT_TRANSLATED +en Epiphysis of the proximal phalanx of the thumb having multiple bony fragments HP:0009668 IAO:0000115 nl Epiphysis of the proximal phalanx of the thumb having multiple bony fragments NOT_TRANSLATED +en Epiphysis of the thumb having multiple bony fragments HP:0009690 IAO:0000115 nl Epiphysis of the thumb having multiple bony fragments NOT_TRANSLATED +en Epiretinal membrane HP:0100014 rdfs:label nl Epiretinaal membraan CANDIDATE +en Episcleritis HP:0100534 rdfs:label nl Episcleritis CANDIDATE +en Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously HP:0004757 IAO:0000115 nl Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously NOT_TRANSLATED +en Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements HP:0007098 IAO:0000115 nl Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements NOT_TRANSLATED +en Episodes of fever for which no infectious cause can be identified HP:0001955 IAO:0000115 nl Episodes of fever for which no infectious cause can be identified NOT_TRANSLATED +en Episodes of intense fear, screaming and flailing although affected individuals are still asleep HP:0030765 IAO:0000115 nl Episodes of intense fear, screaming and flailing although affected individuals are still asleep NOT_TRANSLATED +en Episodes of muscle weakness HP:0003768 IAO:0000115 nl Episodes of muscle weakness NOT_TRANSLATED +en Episodes of muscle weakness associated with elevated levels of potassium in the blood HP:0007215 IAO:0000115 nl Episodes of muscle weakness associated with elevated levels of potassium in the blood NOT_TRANSLATED +en Episodes of muscle weakness associated with reduced levels of potassium in the blood HP:0008153 IAO:0000115 nl Episodes of muscle weakness associated with reduced levels of potassium in the blood NOT_TRANSLATED +en Episodes of reduced body termperature HP:0005964 IAO:0000115 nl Episodes of reduced body termperature NOT_TRANSLATED +en Episodes of ventricular tachycardia that have a sudden onset and ending HP:0004751 IAO:0000115 nl Episodes of ventricular tachycardia that have a sudden onset and ending NOT_TRANSLATED +en Episodes of very rapid breathing HP:0002876 IAO:0000115 nl Episodes of very rapid breathing NOT_TRANSLATED +en Episodic HP:0025303 rdfs:label nl Episodisch CANDIDATE +en Episodic abdominal pain HP:0002574 rdfs:label nl Episodische abdominale pijn CANDIDATE +en Episodic ammonia intoxication HP:0001951 rdfs:label nl Episodische ammoniak intoxicatie CANDIDATE +en Episodic ataxia HP:0002131 rdfs:label nl Episodische ataxie CANDIDATE +en Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks HP:0007166 IAO:0000115 nl Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks NOT_TRANSLATED +en Episodic eosinophilia HP:0032151 rdfs:label nl Episodic eosinophilia NOT_TRANSLATED +en Episodic fatigue HP:0012431 rdfs:label nl Episodische vermoeidheid CANDIDATE +en Episodic fever that recurs at irregular intervals HP:0032324 IAO:0000115 nl Episodic fever that recurs at irregular intervals NOT_TRANSLATED +en Episodic fever that recurs at regular intervals HP:0032323 IAO:0000115 nl Episodic fever that recurs at regular intervals NOT_TRANSLATED +en Episodic flaccid weakness HP:0003752 rdfs:label nl Episodische zwakke spierzwakte CANDIDATE +en Episodic generalized hypotonia HP:0006852 rdfs:label nl Episodische gegeneraliseerde hypotonie CANDIDATE +en Episodic hemiplegia HP:0012194 rdfs:label nl Episodische hemiplegie CANDIDATE +en Episodic hemolytic anemia HP:0004802 rdfs:label nl Episodische hemolytische anemie CANDIDATE +en Episodic hyperhidrosis HP:0001069 rdfs:label nl Episodische hyperhidrose CANDIDATE +en Episodic hypersomnia HP:0007200 rdfs:label nl Episodische hypersomnie CANDIDATE +en Episodic hypertension HP:0000875 rdfs:label nl Episodische hypertensie CANDIDATE +en Episodic hyperventilation HP:0004879 IAO:0000115 nl Episodic hyperventilation NOT_TRANSLATED +en Episodic hypokalemia HP:0012726 rdfs:label nl Episodische hypokaliëmie CANDIDATE +en Episodic hypoventilation HP:0004881 rdfs:label nl Episodische hypoventilatie CANDIDATE +en Episodic ketoacidosis HP:0005974 rdfs:label nl Episodische ketoacidose CANDIDATE +en Episodic metabolic acidosis HP:0004911 rdfs:label nl Episodische metabole acidose CANDIDATE +en Episodic pain HP:0032148 rdfs:label nl Episodic pain NOT_TRANSLATED +en Episodic paroxysmal anxiety HP:0000740 rdfs:label nl Episodische paroxismale angst CANDIDATE +en Episodic peripheral neuropathy HP:0006949 rdfs:label nl Episodische perifere neuropathie CANDIDATE +en Episodic quadriplegia HP:0200072 rdfs:label nl Episodische tetraplegie CANDIDATE +en Episodic respiratory distress HP:0004885 rdfs:label nl Episodische respiratoire nood CANDIDATE +en Episodic tachypnea HP:0002876 rdfs:label nl Episodische tachypnoe CANDIDATE +en Episodic upper airway obstruction HP:0012271 rdfs:label nl Episodische bovenste luchtweg obstructie CANDIDATE +en Episodic vomiting HP:0002572 rdfs:label nl Episodisch braken CANDIDATE +en Epispadias HP:0000039 rdfs:label nl Epispadie CANDIDATE +en Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias HP:0000039 IAO:0000115 nl Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias NOT_TRANSLATED +en Epistaxis HP:0000421 rdfs:label nl Epistaxis (bloedneus) CANDIDATE +en Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose HP:0000421 IAO:0000115 nl Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose NOT_TRANSLATED +en Epithelial neoplasm HP:0031492 rdfs:label nl Epitheliaal neoplasma CANDIDATE +en Epithelioid hemangioma HP:0032060 rdfs:label nl Epithelioid hemangioma NOT_TRANSLATED +en Epsilon wave HP:0034304 rdfs:label nl Epsilon wave NOT_TRANSLATED +en Equinovarus deformity HP:0008110 rdfs:label nl Equinovarus deformiteit CANDIDATE +en Equinus calcaneus HP:0008138 rdfs:label nl Equinus calcaneus CANDIDATE +en Erectile dysfunction HP:0100639 rdfs:label nl Erectiestoornissen CANDIDATE +en Erlenmeyer flask deformity of the femurs HP:0004975 rdfs:label nl Erlenmeyer flask deformity van de femurs CANDIDATE +en Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint HP:0033640 IAO:0000115 nl Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint NOT_TRANSLATED +en Erosion of oral mucosa HP:0031446 rdfs:label nl Erosie van orale mucosa CANDIDATE +en Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue HP:0000155 IAO:0000115 nl Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue NOT_TRANSLATED +en Erosive vitreoretinopathy HP:0030673 rdfs:label nl Erosieve vitreoretinopathie CANDIDATE +en Erratic myoclonus HP:0025357 rdfs:label nl Erratische myoclonus CANDIDATE +en Eruption failure HP:0000706 rdfs:label nl Niet doorgekomen tand CANDIDATE +en Eruptive vellus hair cyst HP:0025248 rdfs:label nl Eruptieve vellus haar cysten CANDIDATE +en Eruptive xanthomas HP:0001013 rdfs:label nl Eruptieve xanthomen CANDIDATE +en Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur HP:0001013 IAO:0000115 nl Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur NOT_TRANSLATED +en Erysipelas HP:0001055 rdfs:label nl Erysipelas CANDIDATE +en Erythema HP:0010783 rdfs:label nl Erytheem CANDIDATE +en Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus HP:0033195 IAO:0000115 nl Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus NOT_TRANSLATED +en Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth HP:0033194 IAO:0000115 nl Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth NOT_TRANSLATED +en Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail HP:0033425 IAO:0000115 nl Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail NOT_TRANSLATED +en Erythema migrans HP:0031180 rdfs:label nl Erythema migrans CANDIDATE +en Erythema nodosum HP:0012219 rdfs:label nl Erythema nodosum CANDIDATE +en Erythema of the eyelids HP:0040323 rdfs:label nl Erytheem van de oogleden CANDIDATE +en Erythematous macule HP:0025475 rdfs:label nl Erythemateuze macula CANDIDATE +en Erythematous oral mucosa HP:0034418 rdfs:label nl Erythematous oral mucosa NOT_TRANSLATED +en Erythematous papule HP:0030350 rdfs:label nl Erythemateuze papel CANDIDATE +en Erythematous plaque HP:0025474 rdfs:label nl Erythemateuze plaque CANDIDATE +en Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest HP:0025536 IAO:0000115 nl Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest NOT_TRANSLATED +en Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back HP:0025535 IAO:0000115 nl Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back NOT_TRANSLATED +en Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis HP:0034278 IAO:0000115 nl Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis NOT_TRANSLATED +en Erythrocyte cylindruria HP:0012617 rdfs:label nl Erytrocyten cylindrurie CANDIDATE +en Erythrocyte inclusion bodies HP:0020080 rdfs:label nl Erythrocyte inclusion bodies NOT_TRANSLATED +en Erythroderma HP:0001019 rdfs:label nl Erythrodermie CANDIDATE +en Erythrodontia HP:0030756 rdfs:label nl Erytrodontie CANDIDATE +en Erythroid dysplasia HP:0031688 rdfs:label nl Erythroïde dysplasie CANDIDATE +en Erythroid hyperplasia HP:0012132 rdfs:label nl Erytroïde hyperplasie CANDIDATE +en Erythroid hypoplasia HP:0012133 rdfs:label nl Erytroïde hypoplasie CANDIDATE +en Erythromelalgia HP:0032147 rdfs:label nl Erythromelalgia NOT_TRANSLATED +en Esodeviation HP:0020045 rdfs:label nl Esodeviatie CANDIDATE +en Esophageal atresia HP:0002032 rdfs:label nl Oesofagusatresie CANDIDATE +en Esophageal carcinoma HP:0011459 rdfs:label nl Oesofageaal carcinoom CANDIDATE +en Esophageal diverticulum HP:0100628 rdfs:label nl Oesofageaal diverticulum CANDIDATE +en Esophageal duplication HP:0100681 rdfs:label nl Oesofageale duplicatie CANDIDATE +en Esophageal exudate HP:0031985 rdfs:label nl Esophageal exudate NOT_TRANSLATED +en Esophageal food impaction HP:0031984 rdfs:label nl Esophageal food impaction NOT_TRANSLATED +en Esophageal furrows HP:0031858 rdfs:label nl Esophageal furrows NOT_TRANSLATED +en Esophageal hemangioma HP:0410270 rdfs:label nl Esophageal hemangioma NOT_TRANSLATED +en Esophageal leukoplakia HP:0012859 rdfs:label nl Oesofageale leukoplakie CANDIDATE +en Esophageal myenteric plexus degeneration HP:0034520 rdfs:label nl Esophageal myenteric plexus degeneration NOT_TRANSLATED +en Esophageal neoplasm HP:0100751 rdfs:label nl Oesofageaal neoplasma CANDIDATE +en Esophageal obstruction HP:0005240 rdfs:label nl Oesofageale obstructie CANDIDATE +en Esophageal spasms HP:0025271 rdfs:label nl Oesofageale spasmen CANDIDATE +en Esophageal squamous papilloma HP:0031463 rdfs:label nl Oesofageale squameus papilloom CANDIDATE +en Esophageal stenosis HP:0010450 rdfs:label nl Oesofagusstenose CANDIDATE +en Esophageal stricture HP:0002043 rdfs:label nl Oesofagus strictuur CANDIDATE +en Esophageal ulceration HP:0004791 rdfs:label nl Oesofageale ulceratie CANDIDATE +en Esophageal varix HP:0002040 rdfs:label nl Oesofagus varices CANDIDATE +en Esophageal web HP:0100594 rdfs:label nl Oesofageaal web CANDIDATE +en Esophagitis HP:0100633 rdfs:label nl Oesofagitis CANDIDATE +en Esophoria HP:0025312 rdfs:label nl Esoforie CANDIDATE +en Esotropia HP:0000565 rdfs:label nl Esotropie CANDIDATE +en Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection HP:0031767 IAO:0000115 nl Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection NOT_TRANSLATED +en Esotropia in which either eye may be used for fixation HP:0001137 IAO:0000115 nl Esotropia in which either eye may be used for fixation NOT_TRANSLATED +en Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction HP:0031764 IAO:0000115 nl Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction NOT_TRANSLATED +en Ethmocephaly HP:0030779 rdfs:label nl Ethmocefalie CANDIDATE +en Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears HP:0030779 IAO:0000115 nl Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears NOT_TRANSLATED +en Ethmoidal encephalocele HP:0004478 rdfs:label nl Ethmoïdale encefalocele CANDIDATE +en Ethylmalonic aciduria HP:0003219 rdfs:label nl Ethylmalonacidurie CANDIDATE +en Eunuchoid habitus HP:0003782 rdfs:label nl Eunuchoide habitus CANDIDATE +en Euphoria HP:0031844 rdfs:label nl Euphoria NOT_TRANSLATED +en Euryblepharon HP:0012905 rdfs:label nl Euryblepharon CANDIDATE +en Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening HP:0012905 IAO:0000115 nl Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening NOT_TRANSLATED +en Euthyroid goiter HP:0009798 rdfs:label nl Euthyreoot struma CANDIDATE +en Euthyroid hyperthyroxinemia HP:0008247 rdfs:label nl Euthyroïde hyperthyroxinemie CANDIDATE +en Euthyroid multinodular goiter HP:0000866 rdfs:label nl Euthyreoot multinodulair struma CANDIDATE +en Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall HP:0100548 IAO:0000115 nl Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall NOT_TRANSLATED +en Eversion of lateral third of lower eyelids HP:0007655 rdfs:label nl Eversie van laterale 1/3 van onderste oogleden CANDIDATE +en Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall HP:0002836 IAO:0000115 nl Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall NOT_TRANSLATED +en Everted antitragus HP:0011248 rdfs:label nl Everted antitragus NOT_TRANSLATED +en Everted lower lip vermilion HP:0000232 rdfs:label nl Naar buiten gekeerd onderliprood CANDIDATE +en Everted upper lip vermilion HP:0010803 rdfs:label nl Naar buiten gekeerd bovenste lip vermiljoen CANDIDATE +en Evidence of chronic denervation on electromyography HP:0003444 IAO:0000115 nl Evidence of chronic denervation on electromyography NOT_TRANSLATED +en Ewing sarcoma HP:0012254 rdfs:label nl Ewing-sarcoom CANDIDATE +en Exacerbated by aspirin ingestion HP:0032365 rdfs:label nl Exacerbated by aspirin ingestion NOT_TRANSLATED +en Exacerbated by barbiturate medication HP:0032502 rdfs:label nl Exacerbated by barbiturate medication NOT_TRANSLATED +en Exacerbated by contraceptive medication HP:0032501 rdfs:label nl Exacerbated by contraceptive medication NOT_TRANSLATED +en Exacerbated by head trauma HP:0025315 rdfs:label nl Verergerd door hoofdtrauma CANDIDATE +en Exacerbated by methylxanthine ingestion HP:0032534 rdfs:label nl Exacerbated by methylxanthine ingestion NOT_TRANSLATED +en Exacerbated by pregnancy HP:0032542 rdfs:label nl Exacerbated by pregnancy NOT_TRANSLATED +en Exacerbated by tobacco use HP:0032500 rdfs:label nl Exacerbated by tobacco use NOT_TRANSLATED +en Exaggerated anterior convexity of the thoracic vertebral column HP:0002808 IAO:0000115 nl Exaggerated anterior convexity of the thoracic vertebral column NOT_TRANSLATED +en Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure) HP:0005272 IAO:0000115 nl Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure) NOT_TRANSLATED +en Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward HP:0004586 IAO:0000115 nl Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward NOT_TRANSLATED +en Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance HP:0002947 IAO:0000115 nl Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance NOT_TRANSLATED +en Exaggerated cupid's bow HP:0002263 rdfs:label nl Overdreven cupidoboog CANDIDATE +en Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging HP:0011527 IAO:0000115 nl Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging NOT_TRANSLATED +en Exaggerated median tongue furrow HP:0002711 rdfs:label nl Exaggerated median tongue furrow NOT_TRANSLATED +en Exaggerated rugosity of the labia majora HP:0030913 rdfs:label nl Exaggerated rugosity of the labia majora NOT_TRANSLATED +en Exaggerated skin markings (dermatoglyphics) on the palms of the hand HP:0033252 IAO:0000115 nl Exaggerated skin markings (dermatoglyphics) on the palms of the hand NOT_TRANSLATED +en Exaggerated startle response HP:0002267 rdfs:label nl Overdreven schrikreactie CANDIDATE +en Exanthem HP:4000054 rdfs:label nl Exanthem NOT_TRANSLATED +en Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise HP:0100695 IAO:0000115 nl Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise NOT_TRANSLATED +en Excess facial hair HP:0009937 IAO:0000115 nl Excess facial hair NOT_TRANSLATED +en Excess of cementum on the tooth root surface HP:0033788 IAO:0000115 nl Excess of cementum on the tooth root surface NOT_TRANSLATED +en Excess skin around the neck, often lying in horizontal folds HP:0005989 IAO:0000115 nl Excess skin around the neck, often lying in horizontal folds NOT_TRANSLATED +en Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist HP:0031743 IAO:0000115 nl Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED +en Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist HP:0031752 IAO:0000115 nl Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED +en Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist HP:0031754 IAO:0000115 nl Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED +en Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist HP:0031745 IAO:0000115 nl Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist NOT_TRANSLATED +en Excessive amount of hair growth on forehead HP:0011335 IAO:0000115 nl Excessive amount of hair growth on forehead NOT_TRANSLATED +en Excessive amounts of mucopolysaccharide in the urine HP:0008155 IAO:0000115 nl Excessive amounts of mucopolysaccharide in the urine NOT_TRANSLATED +en Excessive anterior displacement of the tracheal and/or bronchial membranous wall HP:0033979 IAO:0000115 nl Excessive anterior displacement of the tracheal and/or bronchial membranous wall NOT_TRANSLATED +en Excessive bending, twisting, and winding of a cerebral artery HP:0004938 IAO:0000115 nl Excessive bending, twisting, and winding of a cerebral artery NOT_TRANSLATED +en Excessive bleeding after a venipuncture HP:0030139 rdfs:label nl Overmatig bloeden na een venapunctie CANDIDATE +en Excessive bleeding from superficial cuts HP:0030138 rdfs:label nl Overmatig bloeden van oppervlakkige snijwonden CANDIDATE +en Excessive cerumen HP:0030789 rdfs:label nl Overmatig cerumen CANDIDATE +en Excessive daytime sleepiness HP:0002329 IAO:0000115 nl Excessive daytime sleepiness NOT_TRANSLATED +en Excessive daytime somnolence HP:0001262 rdfs:label nl Buitensporige slaperigheid overdag CANDIDATE +en Excessive desire to eat sweet foods HP:0030221 IAO:0000115 nl Excessive desire to eat sweet foods NOT_TRANSLATED +en Excessive dynamic airway collapse HP:0033979 rdfs:label nl Excessive dynamic airway collapse NOT_TRANSLATED +en Excessive eye contact HP:0034437 rdfs:label nl Excessive eye contact NOT_TRANSLATED +en Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis HP:0032029 IAO:0000115 nl Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis NOT_TRANSLATED +en Excessive fat around the stomach and abdomen HP:0012743 IAO:0000115 nl Excessive fat around the stomach and abdomen NOT_TRANSLATED +en Excessive formation of fibrous bands of scar tissue in between muscle fibers HP:0030951 IAO:0000115 nl Excessive formation of fibrous bands of scar tissue in between muscle fibers NOT_TRANSLATED +en Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton HP:0005465 IAO:0000115 nl Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton NOT_TRANSLATED +en Excessive growth of a nail laterally into the nail fold HP:0012710 IAO:0000115 nl Excessive growth of a nail laterally into the nail fold NOT_TRANSLATED +en Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement HP:0033794 IAO:0000115 nl Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement NOT_TRANSLATED +en Excessive growth of the bones of cranium, i.e., of the skull HP:0004437 IAO:0000115 nl Excessive growth of the bones of cranium, i.e., of the skull NOT_TRANSLATED +en Excessive growth of the bones of the vertebral bodies HP:0008442 IAO:0000115 nl Excessive growth of the bones of the vertebral bodies NOT_TRANSLATED +en Excessive growth of the calvaria HP:0004490 IAO:0000115 nl Excessive growth of the calvaria NOT_TRANSLATED +en Excessive growth of the craniofacial bones HP:0004493 IAO:0000115 nl Excessive growth of the craniofacial bones NOT_TRANSLATED +en Excessive growth of the kneecap (patella) HP:0033308 IAO:0000115 nl Excessive growth of the kneecap (patella) NOT_TRANSLATED +en Excessive growth or abnormal thickening of bone tissue HP:0100774 IAO:0000115 nl Excessive growth or abnormal thickening of bone tissue NOT_TRANSLATED +en Excessive insulin response to glucagon test HP:0031084 rdfs:label nl Overmatige insuline reactie op glucagon test CANDIDATE +en Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix HP:0030804 IAO:0000115 nl Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix NOT_TRANSLATED +en Excessive number of small gyri (convolutions) on the surface of one side of the brain HP:0006927 IAO:0000115 nl Excessive number of small gyri (convolutions) on the surface of one side of the brain NOT_TRANSLATED +en Excessive or pathological tendency to save and collect possessions HP:0030212 IAO:0000115 nl Excessive or pathological tendency to save and collect possessions NOT_TRANSLATED +en Excessive or uncontrolled release of proinflammatory cytokines HP:0033041 IAO:0000115 nl Excessive or uncontrolled release of proinflammatory cytokines NOT_TRANSLATED +en Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference HP:0001548 IAO:0000115 nl Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference NOT_TRANSLATED +en Excessive production of parathyroid hormone (PTH) by the parathyroid glands HP:0000843 IAO:0000115 nl Excessive production of parathyroid hormone (PTH) by the parathyroid glands NOT_TRANSLATED +en Excessive production of saliva HP:0003781 IAO:0000115 nl Excessive production of saliva NOT_TRANSLATED +en Excessive purine production HP:0003142 rdfs:label nl Overtollige purine productie CANDIDATE +en Excessive salivation HP:0003781 rdfs:label nl Overmatige speekselvloed CANDIDATE +en Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light HP:0000613 IAO:0000115 nl Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light NOT_TRANSLATED +en Excessive skin wrinkling on dorsum of hands and fingers HP:0007407 rdfs:label nl Buitensporige rimpels van de huid op dorsum van handen en vingers CANDIDATE +en Excessive thirst manifested by excessive fluid intake HP:0001959 IAO:0000115 nl Excessive thirst manifested by excessive fluid intake NOT_TRANSLATED +en Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight HP:0012188 IAO:0000115 nl Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight NOT_TRANSLATED +en Excessive wrinkled skin HP:0007392 rdfs:label nl Overmatige gerimpelde huid CANDIDATE +en Excessive wrinkling of palmar skin HP:0007605 rdfs:label nl Overmatige gerimpelde palmaire huid CANDIDATE +en Excessive wrinkling of the skin of the face HP:0009762 IAO:0000115 nl Excessive wrinkling of the skin of the face NOT_TRANSLATED +en Excessive, increased hair growth located in the elbow region HP:0004780 IAO:0000115 nl Excessive, increased hair growth located in the elbow region NOT_TRANSLATED +en Excessive, increased hair growth located in the facial region HP:0002219 IAO:0000115 nl Excessive, increased hair growth located in the facial region NOT_TRANSLATED +en Excessive, increased hair growth located in the lumbar region HP:0011913 IAO:0000115 nl Excessive, increased hair growth located in the lumbar region NOT_TRANSLATED +en Excessive, increased hair growth located in the region of the forehead and temple HP:0032313 IAO:0000115 nl Excessive, increased hair growth located in the region of the forehead and temple NOT_TRANSLATED +en Excessive, increased hair growth located in the sacral region HP:0004532 IAO:0000115 nl Excessive, increased hair growth located in the sacral region NOT_TRANSLATED +en Excessive, increased hair growth located in the thoracic region HP:0011914 IAO:0000115 nl Excessive, increased hair growth located in the thoracic region NOT_TRANSLATED +en Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine HP:0100770 IAO:0000115 nl Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine NOT_TRANSLATED +en Excessively deep creases of the palm HP:0006191 IAO:0000115 nl Excessively deep creases of the palm NOT_TRANSLATED +en Excluded HP:0040285 rdfs:label nl Uitgesloten CANDIDATE +en Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD) HP:0003126 IAO:0000115 nl Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD) NOT_TRANSLATED +en Excretion of excess amounts of aspartylglucosamine in the urine HP:0012068 IAO:0000115 nl Excretion of excess amounts of aspartylglucosamine in the urine NOT_TRANSLATED +en Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit HP:0003541 IAO:0000115 nl Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit NOT_TRANSLATED +en Excretion of non-amino organic acids in urine HP:0001992 IAO:0000115 nl Excretion of non-amino organic acids in urine NOT_TRANSLATED +en Excretion of oligosaccharides conjugated to sialic acid in the urine HP:0012061 IAO:0000115 nl Excretion of oligosaccharides conjugated to sialic acid in the urine NOT_TRANSLATED +en Excretion of peptides conjugated to sialic acid in the urine HP:0003461 IAO:0000115 nl Excretion of peptides conjugated to sialic acid in the urine NOT_TRANSLATED +en Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration HP:0012072 IAO:0000115 nl Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration NOT_TRANSLATED +en Excruciating burning pain in the rectal area that may be triggered by defecation HP:0032150 IAO:0000115 nl Excruciating burning pain in the rectal area that may be triggered by defecation NOT_TRANSLATED +en Excyclophoria HP:0031779 rdfs:label nl Excyclophoria NOT_TRANSLATED +en Excyclotropia HP:0031727 rdfs:label nl Excyclotropie CANDIDATE +en Exencephaly HP:0030769 rdfs:label nl Exencefalie CANDIDATE +en Exercise induced anaphylaxis HP:0410139 rdfs:label nl Exercise induced anaphylaxis NOT_TRANSLATED +en Exercise intolerance HP:0003546 rdfs:label nl Inspanningsintolerantie CANDIDATE +en Exercise-induced U wave inversion HP:0025073 rdfs:label nl Inspanning-geïnduceerde U golf inversie CANDIDATE +en Exercise-induced asthma HP:0012652 rdfs:label nl Inspanning-geïnduceerde astma CANDIDATE +en Exercise-induced hemolysis HP:0005535 rdfs:label nl Inspanning-geïnduceerde hemolyse CANDIDATE +en Exercise-induced lactic acidemia HP:0004901 rdfs:label nl Inspanning-geïnduceerde lactaat acidemie CANDIDATE +en Exercise-induced leg cramps HP:0008991 rdfs:label nl Inspanning-geïnduceerde been krampen CANDIDATE +en Exercise-induced muscle cramps HP:0003710 rdfs:label nl Inspanning-geïnduceerde spierkrampen CANDIDATE +en Exercise-induced muscle fatigue HP:0009020 rdfs:label nl Inspanning-geïnduceerde spierpijn CANDIDATE +en Exercise-induced muscle stiffness HP:0008967 rdfs:label nl Inspanning-geïnduceerde spierstijfheid CANDIDATE +en Exercise-induced myalgia HP:0003738 rdfs:label nl Inspanning-geïnduceerde myalgie CANDIDATE +en Exercise-induced myoglobinuria HP:0008305 rdfs:label nl Inspanning-geïnduceerde myoglobinurie CANDIDATE +en Exercise-induced rhabdomyolysis HP:0009045 rdfs:label nl Inspanning-geïnduceerde rhabdomyolyse CANDIDATE +en Exertional dyspnea HP:0002875 rdfs:label nl Inspanningsdyspnoe CANDIDATE +en Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal HP:0006480 IAO:0000115 nl Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal NOT_TRANSLATED +en Exocrine pancreatic insufficiency HP:0001738 rdfs:label nl Pancreasinsufficiëntie CANDIDATE +en Exodeviation HP:0020049 rdfs:label nl Exodeviatie CANDIDATE +en Exogenous lipoid pneumonia HP:0033366 rdfs:label nl Exogenous lipoid pneumonia NOT_TRANSLATED +en Exophoria HP:0025313 rdfs:label nl Exoforie CANDIDATE +en Exostoses HP:0100777 rdfs:label nl Exostosen CANDIDATE +en Exostoses of hand bones HP:0004276 rdfs:label nl Exostosen van hand botten CANDIDATE +en Exostoses of the forearm bones HP:0003960 rdfs:label nl Exostosen van botten van onderarm CANDIDATE +en Exostoses of the radial metaphysis HP:0004017 rdfs:label nl Exostosen van de metafyse van de radius CANDIDATE +en Exostoses of the radius HP:0003986 rdfs:label nl Exostosen van de radius CANDIDATE +en Exostoses of the ulna HP:0003985 rdfs:label nl Exostosen van de ulna CANDIDATE +en Exostosis of the external auditory canal HP:0004459 rdfs:label nl Exostose van externe gehoorgang CANDIDATE +en Exotropia HP:0000577 rdfs:label nl Exotropie CANDIDATE +en Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits HP:0031719 IAO:0000115 nl Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits NOT_TRANSLATED +en Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation HP:0031720 IAO:0000115 nl Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation NOT_TRANSLATED +en Exotropia in an individual who has previously had esotropia or esophoria HP:0031718 IAO:0000115 nl Exotropia in an individual who has previously had esotropia or esophoria NOT_TRANSLATED +en Expanded metacarpals with widened medullary cavities HP:0006232 rdfs:label nl Uitgebreide metacarpalen met verwijde medullaire holten CANDIDATE +en Expanded metatarsals with widened medullary cavities HP:0008102 rdfs:label nl Uitgebreide metatarsalen met verwijde medullaire holten CANDIDATE +en Expanded phalanges with widened medullary cavities HP:0006112 rdfs:label nl Uitgebreide falangen met verwijde medullaire holten CANDIDATE +en Expanded terminal portion of crus of helix HP:0011259 rdfs:label nl Expanded terminal portion of crus of helix NOT_TRANSLATED +en Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material HP:0033290 IAO:0000115 nl Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material NOT_TRANSLATED +en Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain HP:0034220 IAO:0000115 nl Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain NOT_TRANSLATED +en Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen HP:0032543 IAO:0000115 nl Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen NOT_TRANSLATED +en Experiential epileptic aura HP:0012002 rdfs:label nl Experiëntele auras CANDIDATE +en Expiratory air trapping HP:0032968 rdfs:label nl Expiratory air trapping NOT_TRANSLATED +en Expiratory crackles HP:0031999 rdfs:label nl Expiratory crackles NOT_TRANSLATED +en Exposure history HP:4000110 rdfs:label nl Exposure history NOT_TRANSLATED +en Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants HP:0031437 IAO:0000115 nl Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants NOT_TRANSLATED +en Expressive aphasia HP:0002427 rdfs:label nl Motorische afasie CANDIDATE +en Expressive language delay HP:0002474 rdfs:label nl Expressieve taalachterstand CANDIDATE +en Exstrophy HP:0100548 rdfs:label nl Exstrophie CANDIDATE +en Extension of eyebrows towards upper eyelid HP:0010731 rdfs:label nl Verlenging van wenkbrauwen richting bovenste ooglid CANDIDATE +en Extension of hair growth on temples to lateral eyebrow HP:0005325 rdfs:label nl Verlenging van haargroei op slapen tot laterale wenkbrauw CANDIDATE +en Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm HP:0011311 IAO:0000115 nl Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm NOT_TRANSLATED +en Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix HP:0011256 IAO:0000115 nl Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix NOT_TRANSLATED +en External carotid artery calcification HP:0031315 rdfs:label nl Arteria carotis externa calcificatie CANDIDATE +en External carotid artery dissection HP:0012161 rdfs:label nl Arteria carotis externa dissectie CANDIDATE +en External ear malformation HP:0008572 rdfs:label nl Externe oor malformatie CANDIDATE +en External genital hypoplasia HP:0003241 rdfs:label nl Externe genitaliën hypoplasie CANDIDATE +en External mechanical compression of the spinal cord HP:0002176 IAO:0000115 nl External mechanical compression of the spinal cord NOT_TRANSLATED +en External ophthalmoplegia HP:0000544 rdfs:label nl Externe oftalmoplegie CANDIDATE +en External tibial torsion HP:0034373 rdfs:label nl External tibial torsion NOT_TRANSLATED +en External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) HP:0034373 IAO:0000115 nl External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) NOT_TRANSLATED +en Extra concha fold HP:0400002 rdfs:label nl Extra concha vouwen CANDIDATE +en Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip HP:0000191 IAO:0000115 nl Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip NOT_TRANSLATED +en Extra fontanelles HP:0012367 rdfs:label nl Extra fontanellen CANDIDATE +en Extra-abdominal umbilical vein varix HP:0025689 rdfs:label nl Extra-abdominal umbilical vein varix NOT_TRANSLATED +en Extra-axial cerebrospinal fluid accumulation HP:0012510 rdfs:label nl Extra axiale liquor ophoping CANDIDATE +en Extraadrenal pheochromocytoma HP:0006737 rdfs:label nl Extra-adrenaal feochromocytoom CANDIDATE +en Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding HP:0030843 IAO:0000115 nl Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding NOT_TRANSLATED +en Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding HP:0033247 IAO:0000115 nl Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding NOT_TRANSLATED +en Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit HP:0033295 IAO:0000115 nl Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit NOT_TRANSLATED +en Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material HP:0033234 IAO:0000115 nl Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material NOT_TRANSLATED +en Extracellular mesangial accumulation of slender proteinaceous fibers HP:0033544 IAO:0000115 nl Extracellular mesangial accumulation of slender proteinaceous fibers NOT_TRANSLATED +en Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass HP:0033548 IAO:0000115 nl Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass NOT_TRANSLATED +en Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination HP:0033547 IAO:0000115 nl Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination NOT_TRANSLATED +en Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material HP:0033545 IAO:0000115 nl Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material NOT_TRANSLATED +en Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant HP:4000041 IAO:0000115 nl Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant NOT_TRANSLATED +en Extracranial internal carotid artery dissection HP:0004945 rdfs:label nl Extracraniale arteria carotis interna dissectie CANDIDATE +en Extractable nuclear antigen positivity HP:0033476 rdfs:label nl Extractable nuclear antigen positivity NOT_TRANSLATED +en Extrafoveal choroidal neovascularization HP:0031239 rdfs:label nl Extrafoveale choroïdale neovascularisatie CANDIDATE +en Extrahepatic biliary duct atresia HP:0005242 rdfs:label nl Extrahepatische galgang atresie CANDIDATE +en Extrahepatic cholestasis HP:0012334 rdfs:label nl Extrahepatische cholestase CANDIDATE +en Extrahepatic portal hypertension HP:0004941 rdfs:label nl Extrahepatische portale hypertensie CANDIDATE +en Extralobar sequestration HP:0010962 rdfs:label nl Extralobaire sequestratie CANDIDATE +en Extramedullary hematopoiesis HP:0001978 rdfs:label nl Extramedullary Haematopoiese CANDIDATE +en Extrapulmonary sequestrum HP:0006544 rdfs:label nl Extrapulmonaal sequester CANDIDATE +en Extrapulmonary tuberculosis HP:0032271 rdfs:label nl Extrapulmonary tuberculosis NOT_TRANSLATED +en Extrapyramidal dyskinesia HP:0007308 rdfs:label nl Extrapyramidale dyskinesie CANDIDATE +en Extrapyramidal muscular rigidity HP:0007076 rdfs:label nl Extrapyramidale musculaire rigiditeit CANDIDATE +en Extravasation of chyle into the peritoneal cavity HP:0012281 IAO:0000115 nl Extravasation of chyle into the peritoneal cavity NOT_TRANSLATED +en Extreme axis deviation HP:0033569 rdfs:label nl Extreme axis deviation NOT_TRANSLATED +en Extreme dilation of the submucusoal veins in the lower portion of the esophagus HP:0002040 IAO:0000115 nl Extreme dilation of the submucusoal veins in the lower portion of the esophagus NOT_TRANSLATED +en Extreme dilation of the submucusoal veins in the stomach HP:0030169 IAO:0000115 nl Extreme dilation of the submucusoal veins in the stomach NOT_TRANSLATED +en Extreme rapidity of speech HP:0031937 IAO:0000115 nl Extreme rapidity of speech NOT_TRANSLATED +en Extreme thickening of the cortex of long bones HP:0005665 IAO:0000115 nl Extreme thickening of the cortex of long bones NOT_TRANSLATED +en Extreme width of the skull in the occipital region, with anterior narrowing and prognathism HP:0033011 IAO:0000115 nl Extreme width of the skull in the occipital region, with anterior narrowing and prognathism NOT_TRANSLATED +en Extremely elevated creatine kinase HP:0030235 rdfs:label nl Extreem verhoogd serum creatinefosfokinase CANDIDATE +en Extremely preterm birth HP:0025665 rdfs:label nl Extremely preterm birth NOT_TRANSLATED +en Exudative pleural effusion HP:0011921 rdfs:label nl Exsudatieve pleurale effusie CANDIDATE +en Exudative retinal detachment HP:0012231 rdfs:label nl Exsudatieve netvliesloslating CANDIDATE +en Exudative retinopathy HP:0007898 rdfs:label nl Exsudatieve retinopathie CANDIDATE +en Exudative vitreoretinopathy HP:0030490 rdfs:label nl Exsudatieve vitreoretinopathie CANDIDATE +en Eye movement-induced pain HP:0030857 rdfs:label nl Oogbeweging-geïnduceerde pijn CANDIDATE +en Eye of the tiger anomaly of globus pallidus HP:0002454 rdfs:label nl Eye of the tiger afwijking van de globus pallidus CANDIDATE +en Eye poking HP:0001483 rdfs:label nl Oog prikken CANDIDATE +en Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache HP:0031590 IAO:0000115 nl Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache NOT_TRANSLATED +en Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly HP:0011231 IAO:0000115 nl Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly NOT_TRANSLATED +en Eyelid apraxia HP:0000658 rdfs:label nl Ooglid apraxie CANDIDATE +en Eyelid coloboma HP:0000625 rdfs:label nl Gespleten ooglid CANDIDATE +en Eyelid fasciculation HP:0030826 rdfs:label nl Ooglid fasciculatie CANDIDATE +en Eyelid laxity HP:0031880 rdfs:label nl Eyelid laxity NOT_TRANSLATED +en Eyelid myoclonia seizure HP:0032678 rdfs:label nl Eyelid myoclonia seizure NOT_TRANSLATED +en Eyelid myoclonus HP:0025097 rdfs:label nl Ooglid myoclonus CANDIDATE +en Eyelid myokymia HP:0031166 rdfs:label nl Ooglid myokymie CANDIDATE +en Eyelid partly covered by skin when eyes are open HP:0030820 IAO:0000115 nl Eyelid partly covered by skin when eyes are open NOT_TRANSLATED +en Eyelid retraction HP:0500043 rdfs:label nl Eyelid retraction NOT_TRANSLATED +en Face of the giant panda sign HP:0034254 rdfs:label nl Face of the giant panda sign NOT_TRANSLATED +en Facet joint arthrosis HP:0030871 rdfs:label nl Facet joint arthrosis NOT_TRANSLATED +en Facial asymmetry HP:0000324 rdfs:label nl Faciale asymmetrie CANDIDATE +en Facial capillary hemangioma HP:0000996 rdfs:label nl Capillair gezichtshemangioom CANDIDATE +en Facial cleft HP:0002006 rdfs:label nl Faciale cleft CANDIDATE +en Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin HP:0000325 IAO:0000115 nl Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin NOT_TRANSLATED +en Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance HP:0000321 IAO:0000115 nl Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance NOT_TRANSLATED +en Facial cyanosis HP:0034031 rdfs:label nl Facial cyanosis NOT_TRANSLATED +en Facial diplegia HP:0001349 rdfs:label nl Gezichtsdiplegia CANDIDATE +en Facial diplegia (that is, bilateral facial palsy) with congenital onset HP:0007188 IAO:0000115 nl Facial diplegia (that is, bilateral facial palsy) with congenital onset NOT_TRANSLATED +en Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy) HP:0001349 IAO:0000115 nl Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy) NOT_TRANSLATED +en Facial edema HP:0000282 rdfs:label nl Faciaal oedeem CANDIDATE +en Facial erythema HP:0001041 rdfs:label nl Gezichtserytheem CANDIDATE +en Facial flushing after alcohol intake HP:0001033 rdfs:label nl Gezicht spoelen na alcoholinname CANDIDATE +en Facial grimacing HP:0000273 rdfs:label nl Vertrokken gezicht CANDIDATE +en Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective) HP:0000276 IAO:0000115 nl Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective) NOT_TRANSLATED +en Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective) HP:0011219 IAO:0000115 nl Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective) NOT_TRANSLATED +en Facial hemangioma HP:0000329 rdfs:label nl Gezichtshemangioom CANDIDATE +en Facial hirsutism HP:0009937 rdfs:label nl Faciaal hirsutisme CANDIDATE +en Facial hyperostosis HP:0005465 rdfs:label nl Faciale hyperostose CANDIDATE +en Facial hypertrichosis HP:0002219 rdfs:label nl Faciale hypertrichose CANDIDATE +en Facial hypotonia HP:0000297 rdfs:label nl Faciale hypotonie CANDIDATE +en Facial midline hemangioma HP:0004664 rdfs:label nl Faciaal hemangioom in middellijn CANDIDATE +en Facial muscle hypertrophy HP:0012892 rdfs:label nl Faciale spier hypertrofie CANDIDATE +en Facial myokymia HP:0000317 rdfs:label nl Faciale myokymie CANDIDATE +en Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve) HP:0000317 IAO:0000115 nl Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED +en Facial neoplasm HP:0012289 rdfs:label nl Faciaal neoplasma CANDIDATE +en Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form HP:0010628 IAO:0000115 nl Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form NOT_TRANSLATED +en Facial palsy HP:0010628 rdfs:label nl Bellse parese CANDIDATE +en Facial palsy secondary to cranial hyperostosis HP:0007285 rdfs:label nl Faciale parese secundair aan craniale hyperostose CANDIDATE +en Facial papilloma HP:0040167 rdfs:label nl Facial papilloom CANDIDATE +en Facial paralysis HP:0007209 rdfs:label nl Faciale paralyse CANDIDATE +en Facial shape deformation HP:0011334 rdfs:label nl Misvorming van de vorm van het gezicht CANDIDATE +en Facial telangiectasia HP:0007380 rdfs:label nl Faciale teleangiëctasieën CANDIDATE +en Facial telangiectasia in butterfly midface distribution HP:0005598 rdfs:label nl Facial telangiectasia in butterfly midface distribution NOT_TRANSLATED +en Facial tics HP:0011468 rdfs:label nl Faciale tics CANDIDATE +en Facial wrinkling HP:0009762 rdfs:label nl Faciale rimpelvorming CANDIDATE +en Facial-lingual fasciculations HP:0007089 rdfs:label nl Faciale-linguale fasciculaties CANDIDATE +en Factor X activation deficiency HP:0008354 rdfs:label nl Factor X activatie deficiëntie CANDIDATE +en Factor XIII subunit A deficiency HP:0040233 rdfs:label nl Factor XIII subunit A deficiëntie CANDIDATE +en Factor XIII subunit B deficiency HP:0040234 rdfs:label nl Factor XIII subunit B deficiëntie CANDIDATE +en Failure of a fertilized oocyte to undergo the first round of cell division HP:0033336 IAO:0000115 nl Failure of a fertilized oocyte to undergo the first round of cell division NOT_TRANSLATED +en Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party HP:4000080 IAO:0000115 nl Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted from another party NOT_TRANSLATED +en Failure of attachment of the retina during development HP:0007899 IAO:0000115 nl Failure of attachment of the retina during development NOT_TRANSLATED +en Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test HP:0031078 IAO:0000115 nl Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test NOT_TRANSLATED +en Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test HP:0031081 IAO:0000115 nl Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test NOT_TRANSLATED +en Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT) HP:0031076 IAO:0000115 nl Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT) NOT_TRANSLATED +en Failure of eruption of permanent teeth HP:0006352 rdfs:label nl Falen van het doorkomen van permanente tanden CANDIDATE +en Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia HP:0011984 IAO:0000115 nl Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia NOT_TRANSLATED +en Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test HP:0031082 IAO:0000115 nl Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test NOT_TRANSLATED +en Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT) HP:0031079 IAO:0000115 nl Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT) NOT_TRANSLATED +en Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage HP:0031516 IAO:0000115 nl Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage NOT_TRANSLATED +en Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant HP:0031109 IAO:0000115 nl Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant NOT_TRANSLATED +en Failure of the femur to develop HP:0012744 IAO:0000115 nl Failure of the femur to develop NOT_TRANSLATED +en Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria HP:0001655 IAO:0000115 nl Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria NOT_TRANSLATED +en Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels HP:0020159 IAO:0000115 nl Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels NOT_TRANSLATED +en Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance HP:0002721 IAO:0000115 nl Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance NOT_TRANSLATED +en Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium HP:0005180 IAO:0000115 nl Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium NOT_TRANSLATED +en Failure of the ureter to undergo development HP:0012300 IAO:0000115 nl Failure of the ureter to undergo development NOT_TRANSLATED +en Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development HP:0100656 IAO:0000115 nl Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development NOT_TRANSLATED +en Failure to complete ossification (maturation and calcification) of the palatine bone HP:0430012 IAO:0000115 nl Failure to complete ossification (maturation and calcification) of the palatine bone NOT_TRANSLATED +en Failure to complete ossification (maturation and calcification) of the pubic bone HP:0030042 IAO:0000115 nl Failure to complete ossification (maturation and calcification) of the pubic bone NOT_TRANSLATED +en Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body HP:0031699 IAO:0000115 nl Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body NOT_TRANSLATED +en Failure to develop and congenital absence of the breast HP:0100783 IAO:0000115 nl Failure to develop and congenital absence of the breast NOT_TRANSLATED +en Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response HP:0033104 IAO:0000115 nl Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response NOT_TRANSLATED +en Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present HP:0012687 IAO:0000115 nl Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present NOT_TRANSLATED +en Failure to develop of the small intestine HP:0012739 IAO:0000115 nl Failure to develop of the small intestine NOT_TRANSLATED +en Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle HP:0011662 IAO:0000115 nl Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle NOT_TRANSLATED +en Failure to form (agenesis) of one or more epiphyses of the big toe HP:0010113 IAO:0000115 nl Failure to form (agenesis) of one or more epiphyses of the big toe NOT_TRANSLATED +en Failure to form (agenesis) of the epiphysis of the 1st metatarsal HP:0010149 IAO:0000115 nl Failure to form (agenesis) of the epiphysis of the 1st metatarsal NOT_TRANSLATED +en Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux HP:0010138 IAO:0000115 nl Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux NOT_TRANSLATED +en Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux HP:0010127 IAO:0000115 nl Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux NOT_TRANSLATED +en Failure to form of portions of the abdominal musculature HP:0005243 IAO:0000115 nl Failure to form of portions of the abdominal musculature NOT_TRANSLATED +en Failure to increase serum TSH levels in response to a TRH stimulation test HP:0033081 IAO:0000115 nl Failure to increase serum TSH levels in response to a TRH stimulation test NOT_TRANSLATED +en Failure to thrive HP:0001508 rdfs:label nl Groeiachterstand CANDIDATE +en Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm HP:0001508 IAO:0000115 nl Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm NOT_TRANSLATED +en Failure to thrive in infancy HP:0001531 rdfs:label nl Groeiachterstand in zuigelingenperiode CANDIDATE +en Failure to thrive secondary to recurrent infections HP:0008866 rdfs:label nl Failure to thrive secundair aan recidiverende infecties CANDIDATE +en Faint anterior chamber flare HP:0031618 IAO:0000115 nl Faint anterior chamber flare NOT_TRANSLATED +en Fair hair HP:0002286 rdfs:label nl Blond haar CANDIDATE +en Falciform retinal fold HP:0001493 rdfs:label nl Gebogen retinale vouw CANDIDATE +en Fallopian tube carcinoma HP:0030394 rdfs:label nl Tuba carcinoom CANDIDATE +en Fallopian tube cyst HP:0012883 rdfs:label nl Tuba cyste CANDIDATE +en Fallopian tube duplication HP:0012885 rdfs:label nl Tuba duplicatie CANDIDATE +en Fallopian tube torsion HP:0012884 rdfs:label nl Tuba torsie CANDIDATE +en Falls HP:0002527 rdfs:label nl Vallen CANDIDATE +en False perception of self-motion HP:4000032 rdfs:label nl False perception of self-motion NOT_TRANSLATED +en Family history HP:0032316 rdfs:label nl Family history NOT_TRANSLATED +en Family history of cancer HP:0032317 rdfs:label nl Family history of cancer NOT_TRANSLATED +en Family history of heart disease HP:0032318 rdfs:label nl Family history of heart disease NOT_TRANSLATED +en Fascicular left ventricular tachycardia HP:0031675 rdfs:label nl Fasciculaire linker ventriculaire tachycardie CANDIDATE +en Fasciculations HP:0002380 rdfs:label nl Fasciculaties CANDIDATE +en Fasciculations affecting the musculature of the arms and legs HP:0007289 IAO:0000115 nl Fasciculations affecting the musculature of the arms and legs NOT_TRANSLATED +en Fasciculations affecting the tongue muscle and the musculature of the chin HP:0032507 IAO:0000115 nl Fasciculations affecting the tongue muscle and the musculature of the chin NOT_TRANSLATED +en Fasciculations affecting the tongue muscle and the musculature of the face HP:0007089 IAO:0000115 nl Fasciculations affecting the tongue muscle and the musculature of the face NOT_TRANSLATED +en Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units HP:0002380 IAO:0000115 nl Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units NOT_TRANSLATED +en Fasciculations or fibrillation affecting the tongue muscle HP:0001308 IAO:0000115 nl Fasciculations or fibrillation affecting the tongue muscle NOT_TRANSLATED +en Fasciitis HP:0100537 rdfs:label nl Fasciitis CANDIDATE +en Fast-growing nails HP:0030806 rdfs:label nl Snel groeiende nagels CANDIDATE +en Fasting hyperinsulinemia HP:0008283 rdfs:label nl Hyperinsulinemie bij vasten CANDIDATE +en Fasting hypoglycemia HP:0003162 rdfs:label nl Vastende hypoglykemie CANDIDATE +en Fat infiltration in the pancreas HP:0033757 IAO:0000115 nl Fat infiltration in the pancreas NOT_TRANSLATED +en Fat malabsorption HP:0002630 rdfs:label nl Vet malabsorptie CANDIDATE +en Fatal liver failure in infancy HP:0006583 rdfs:label nl Fataal leverfalen in jeugd CANDIDATE +en Fatigable weakness HP:0003473 rdfs:label nl Fatigable weakness NOT_TRANSLATED +en Fatigable weakness of bulbar muscles HP:0030192 rdfs:label nl Fatigable weakness of bulbar muscles NOT_TRANSLATED +en Fatigable weakness of chewing muscles HP:0030193 rdfs:label nl Fatigable weakness of chewing muscles NOT_TRANSLATED +en Fatigable weakness of distal limb muscles HP:0030198 rdfs:label nl Fatigable weakness of distal limb muscles NOT_TRANSLATED +en Fatigable weakness of neck muscles HP:0030199 rdfs:label nl Fatigable weakness of neck muscles NOT_TRANSLATED +en Fatigable weakness of respiratory muscles HP:0030196 rdfs:label nl Fatigable weakness of respiratory muscles NOT_TRANSLATED +en Fatigable weakness of skeletal muscles HP:0030197 rdfs:label nl Fatigable weakness of skeletal muscles NOT_TRANSLATED +en Fatigable weakness of speech muscles HP:0030194 rdfs:label nl Fatigable weakness of speech muscles NOT_TRANSLATED +en Fatigable weakness of swallowing muscles HP:0030195 rdfs:label nl Fatigable weakness of swallowing muscles NOT_TRANSLATED +en Fatiguable weakness of proximal limb muscles HP:0030200 rdfs:label nl Fatiguable weakness of proximal limb muscles NOT_TRANSLATED +en Fatigue HP:0012378 rdfs:label nl Vermoeidheid CANDIDATE +en Fatty casts HP:0031203 rdfs:label nl Vette cilinders CANDIDATE +en Fatty replacement of skeletal muscle HP:0012548 rdfs:label nl Vetvervanging van skeletspier CANDIDATE +en Fatty replacement of ventricular myocardial tissue HP:0031317 rdfs:label nl Fatty replacement of ventricular myocardial tissue NOT_TRANSLATED +en Fatty streak HP:0031011 rdfs:label nl Fatty streak CANDIDATE +en Fatty tumors on the eyelids HP:0040164 IAO:0000115 nl Fatty tumors on the eyelids NOT_TRANSLATED +en Fava bean-induced hemolytic anemia HP:0004814 rdfs:label nl Tuinboon-geïnduceerde hemolytische anemie CANDIDATE +en Favorable response of weakness to acetylcholine esterase inhibitors HP:0030202 rdfs:label nl Gunstige respons van zwakte op acetylcholinesteraseremmers CANDIDATE +en Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy HP:0031468 IAO:0000115 nl Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy NOT_TRANSLATED +en Feather allergy HP:0410326 rdfs:label nl Feather allergy NOT_TRANSLATED +en Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue HP:0011659 IAO:0000115 nl Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue NOT_TRANSLATED +en Febrile seizure (within the age range of 3 months to 6 years) HP:0002373 rdfs:label nl Koortstuipen CANDIDATE +en Febrile seizure outside the age of 3 months to 6 years HP:0032895 rdfs:label nl Febrile seizure outside the age of 3 months to 6 years NOT_TRANSLATED +en Febrile status epilepticus HP:0032656 rdfs:label nl Febrile status epilepticus NOT_TRANSLATED +en Feculent vomiting HP:0025089 rdfs:label nl Fecaal braken CANDIDATE +en Feeding difficulties HP:0011968 rdfs:label nl Voedingsproblemen CANDIDATE +en Feeding difficulties in infancy HP:0008872 rdfs:label nl Voedingsproblemen in de kindertijd CANDIDATE +en Feeding problem necessitating food and nutrient delivery via a tube HP:0033454 IAO:0000115 nl Feeding problem necessitating food and nutrient delivery via a tube NOT_TRANSLATED +en Feeding problem necessitating gastrojejunal tube feeding HP:0030884 IAO:0000115 nl Feeding problem necessitating gastrojejunal tube feeding NOT_TRANSLATED +en Feeding problem necessitating gastrostomy tube feeding HP:0011471 IAO:0000115 nl Feeding problem necessitating gastrostomy tube feeding NOT_TRANSLATED +en Feeding problem necessitating nasogastric tube feeding HP:0011470 IAO:0000115 nl Feeding problem necessitating nasogastric tube feeding NOT_TRANSLATED +en Feeling excessively full after meals HP:0033843 IAO:0000115 nl Feeling excessively full after meals NOT_TRANSLATED +en Female anorgasmia HP:0030015 rdfs:label nl Vrouwelijke anorgasmie CANDIDATE +en Female external genitalia in individual with 46,XY karyotype HP:0008730 rdfs:label nl Vrouwelijke externe genitaliën in individue met 46,XY karyotype CANDIDATE +en Female fetal virilization HP:0031170 rdfs:label nl Vrouwelijke foetale virilisatie CANDIDATE +en Female hypogonadism HP:0000134 rdfs:label nl Vrouwelijk hypogonadisme CANDIDATE +en Female infertility HP:0008222 rdfs:label nl Vrouwelijke infertiliteit CANDIDATE +en Female pseudohermaphroditism HP:0010458 rdfs:label nl Vrouwelijk pseudohermafroditisme CANDIDATE +en Female reproductive system neoplasm HP:0033020 rdfs:label nl Female reproductive system neoplasm NOT_TRANSLATED +en Female sexual dysfunction HP:0030014 rdfs:label nl Vrouwelijke seksuele disfunctie CANDIDATE +en Female-limited expression HP:0034344 rdfs:label nl Female-limited expression NOT_TRANSLATED +en Femoral aplasia HP:0012744 rdfs:label nl Femorale aplasie CANDIDATE +en Femoral arterial calcification HP:0031303 rdfs:label nl Arteria femoralis calcificatie CANDIDATE +en Femoral bowing HP:0002980 rdfs:label nl Bowing van de femur CANDIDATE +en Femoral bowing present at birth, straightening with time HP:0005005 rdfs:label nl Bowing van de femur aanwezig tijdens de geboorte, rechttrekkend met de tijd CANDIDATE +en Femoral hernia HP:0100541 rdfs:label nl Femorale hernia CANDIDATE +en Femoral retroversion HP:0008796 rdfs:label nl Extern gedraaide heupen CANDIDATE +en Femoral spur HP:0031171 rdfs:label nl Femoral spur NOT_TRANSLATED +en Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range HP:0031069 IAO:0000115 nl Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range NOT_TRANSLATED +en Femoroacetabular impingement HP:0030883 rdfs:label nl Femoro-acetabulaire impingement CANDIDATE +en Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis HP:0030883 IAO:0000115 nl Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis NOT_TRANSLATED +en Femur fracture HP:0031846 rdfs:label nl Femur fracture NOT_TRANSLATED +en Fetal abdominal cyst HP:4000139 rdfs:label nl Fetal abdominal cyst NOT_TRANSLATED +en Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally HP:4000139 IAO:0000115 nl Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally NOT_TRANSLATED +en Fetal akinesia sequence HP:0001989 rdfs:label nl Foetale akinesie sequentie CANDIDATE +en Fetal anemia HP:0025716 rdfs:label nl Fetal anemia NOT_TRANSLATED +en Fetal anomaly HP:0034057 rdfs:label nl Fetal anomaly NOT_TRANSLATED +en Fetal ascites HP:0001791 rdfs:label nl Foetale ascites CANDIDATE +en Fetal bowel dilatation HP:4000140 rdfs:label nl Fetal bowel dilatation NOT_TRANSLATED +en Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation HP:4000140 IAO:0000115 nl Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation NOT_TRANSLATED +en Fetal cerebellar hemisphere hemorrhage HP:0034215 rdfs:label nl Fetal cerebellar hemisphere hemorrhage NOT_TRANSLATED +en Fetal cerebellar vermis hemorrhage HP:0034216 rdfs:label nl Fetal cerebellar vermis hemorrhage NOT_TRANSLATED +en Fetal cerebral parenchymal hemorrhage HP:0034211 rdfs:label nl Fetal cerebral parenchymal hemorrhage NOT_TRANSLATED +en Fetal choroid plexus cysts HP:0011426 rdfs:label nl Foetale choroid plexus cyste CANDIDATE +en Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637) HP:0011426 IAO:0000115 nl Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637) NOT_TRANSLATED +en Fetal chylothorax HP:0025677 rdfs:label nl Fetal chylothorax NOT_TRANSLATED +en Fetal cystic hygroma HP:0010878 rdfs:label nl Foetaal cysteus hygroom CANDIDATE +en Fetal distress HP:0025116 rdfs:label nl Foetale nood CANDIDATE +en Fetal extra-axial hemorrhage HP:0034212 rdfs:label nl Fetal extra-axial hemorrhage NOT_TRANSLATED +en Fetal fifth finger clinodactyly HP:0011431 rdfs:label nl Foetale vijfde vinger clinodactylie CANDIDATE +en Fetal head anomaly HP:0034245 rdfs:label nl Fetal head anomaly NOT_TRANSLATED +en Fetal hydrothorax HP:0025678 rdfs:label nl Fetal hydrothorax NOT_TRANSLATED +en Fetal intra-abdominal umbilical vein varix HP:0025690 rdfs:label nl Fetal intra-abdominal umbilical vein varix NOT_TRANSLATED +en Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age HP:0025690 IAO:0000115 nl Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age NOT_TRANSLATED +en Fetal intracranial hemorrhage HP:0034208 rdfs:label nl Fetal intracranial hemorrhage NOT_TRANSLATED +en Fetal intraventricular hemorrhage HP:0034210 rdfs:label nl Fetal intraventricular hemorrhage NOT_TRANSLATED +en Fetal intraventricular hemorrhage with periventricular hemorrhage HP:0034219 rdfs:label nl Fetal intraventricular hemorrhage with periventricular hemorrhage NOT_TRANSLATED +en Fetal intraventricular hemorrhage with ventriculomegaly HP:0034218 rdfs:label nl Fetal intraventricular hemorrhage with ventriculomegaly NOT_TRANSLATED +en Fetal intraventricular hemorrhage without ventriculomegaly HP:0034214 rdfs:label nl Fetal intraventricular hemorrhage without ventriculomegaly NOT_TRANSLATED +en Fetal lower urinary tract obstruction HP:0034247 rdfs:label nl Fetal lower urinary tract obstruction NOT_TRANSLATED +en Fetal masculinization of female external genitalia HP:0031170 IAO:0000115 nl Fetal masculinization of female external genitalia NOT_TRANSLATED +en Fetal megacystis HP:0010956 rdfs:label nl Foetale megacystis CANDIDATE +en Fetal megacystis is an abnormally enlarged bladder identified at any gestational age HP:0010956 IAO:0000115 nl Fetal megacystis is an abnormally enlarged bladder identified at any gestational age NOT_TRANSLATED +en Fetal neck anomaly HP:0025667 rdfs:label nl Fetal neck anomaly NOT_TRANSLATED +en Fetal neck mass HP:0034240 rdfs:label nl Fetal neck mass NOT_TRANSLATED +en Fetal nuchal edema HP:0034250 rdfs:label nl Fetal nuchal edema NOT_TRANSLATED +en Fetal onset HP:0011461 rdfs:label nl Foetale onset CANDIDATE +en Fetal pericardial effusion HP:0025671 rdfs:label nl Fetal pericardial effusion NOT_TRANSLATED +en Fetal pleural effusion HP:0025676 rdfs:label nl Fetal pleural effusion NOT_TRANSLATED +en Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops HP:0025676 IAO:0000115 nl Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops NOT_TRANSLATED +en Fetal polyuria HP:0001563 rdfs:label nl Foetale polyurie CANDIDATE +en Fetal posterior fossa hemorrhage HP:0034213 rdfs:label nl Fetal posterior fossa hemorrhage NOT_TRANSLATED +en Fetal pyelectasis HP:0010945 rdfs:label nl Foetale pyelectase CANDIDATE +en Fetal scalp mass HP:0034246 rdfs:label nl Fetal scalp mass NOT_TRANSLATED +en Fetal skin edema HP:0025672 rdfs:label nl Fetal skin edema NOT_TRANSLATED +en Fetal subependymal hemorrhage HP:0034209 rdfs:label nl Fetal subependymal hemorrhage NOT_TRANSLATED +en Fetal trigonocephaly HP:4000142 rdfs:label nl Fetal trigonocephaly NOT_TRANSLATED +en Fetal ultrasound soft marker HP:0011425 rdfs:label nl Foetale echo zachte marker CANDIDATE +en Fetal vascular malperfusion HP:0025729 rdfs:label nl Fetal vascular malperfusion NOT_TRANSLATED +en Fetor hepaticus HP:0032142 rdfs:label nl Fetor hepaticus NOT_TRANSLATED +en Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic HP:0032142 IAO:0000115 nl Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic NOT_TRANSLATED +en Fever HP:0001945 rdfs:label nl Koorts CANDIDATE +en Fever that occurs at daily intervals HP:0033087 IAO:0000115 nl Fever that occurs at daily intervals NOT_TRANSLATED +en Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks HP:0033399 IAO:0000115 nl Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks NOT_TRANSLATED +en Few cafe-au-lait spots HP:0007429 rdfs:label nl Enige café-au-lait vlekken CANDIDATE +en Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches HP:0003555 IAO:0000115 nl Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches NOT_TRANSLATED +en Fiber type grouping HP:0033685 rdfs:label nl Fiber type grouping NOT_TRANSLATED +en Fiber- or rope-like opacities located within the vitreous humor HP:0030832 IAO:0000115 nl Fiber- or rope-like opacities located within the vitreous humor NOT_TRANSLATED +en Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) HP:0033598 IAO:0000115 nl Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) NOT_TRANSLATED +en Fibrillar glomerular subepithelial deposits HP:0033598 rdfs:label nl Fibrillar glomerular subepithelial deposits NOT_TRANSLATED +en Fibrillary glomerular subepithelial deposits HP:0033600 rdfs:label nl Fibrillary glomerular subepithelial deposits NOT_TRANSLATED +en Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis HP:0033277 IAO:0000115 nl Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis NOT_TRANSLATED +en Fibrin casts HP:0025697 rdfs:label nl Fibrin casts NOT_TRANSLATED +en Fibro-obliterative bile-duct lesion HP:0034328 rdfs:label nl Fibro-obliterative bile-duct lesion NOT_TRANSLATED +en Fibroadenoma of the breast HP:0010619 rdfs:label nl Fibroadenoom van de borst CANDIDATE +en Fibroblast metachromasia HP:0003610 rdfs:label nl Fibroblast metachromasie CANDIDATE +en Fibroblast proliferation and fiber expansion from the portal areas to the lobule HP:0006580 IAO:0000115 nl Fibroblast proliferation and fiber expansion from the portal areas to the lobule NOT_TRANSLATED +en Fibrocellular crescent HP:0033318 rdfs:label nl Fibrocellular crescent NOT_TRANSLATED +en Fibrocystic lung disease HP:0006552 rdfs:label nl Fibrocystische longziekte CANDIDATE +en Fibrofatty replacement of right ventricular myocardium HP:0034364 rdfs:label nl Fibrofatty replacement of right ventricular myocardium NOT_TRANSLATED +en Fibrofolliculoma HP:0030436 rdfs:label nl Fibrofolliculoom CANDIDATE +en Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation HP:0030436 IAO:0000115 nl Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation NOT_TRANSLATED +en Fibroma HP:0010614 rdfs:label nl Fibroom CANDIDATE +en Fibrosarcoma HP:0100244 rdfs:label nl Fibrosarcoom CANDIDATE +en Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin HP:0033248 IAO:0000115 nl Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin NOT_TRANSLATED +en Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position HP:0007867 IAO:0000115 nl Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position NOT_TRANSLATED +en Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited HP:0007936 IAO:0000115 nl Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited NOT_TRANSLATED +en Fibrotic muscularis propria HP:0030937 rdfs:label nl Fibrotische muscularis propria CANDIDATE +en Fibrotic non-specific interstitial pneumonia HP:0033585 rdfs:label nl Fibrotic non-specific interstitial pneumonia NOT_TRANSLATED +en Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges HP:0010285 IAO:0000115 nl Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges NOT_TRANSLATED +en Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane) HP:0033134 IAO:0000115 nl Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane) NOT_TRANSLATED +en Fibrous cardiac diverticulum HP:0100572 rdfs:label nl Fibreus cardiaal divertikel CANDIDATE +en Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye HP:0007777 IAO:0000115 nl Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye NOT_TRANSLATED +en Fibrous crescent HP:0033319 rdfs:label nl Fibrous crescent NOT_TRANSLATED +en Fibrous dysplasia of the bones HP:0010734 rdfs:label nl Fibreuze dysplasie van de botten CANDIDATE +en Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome HP:0010735 IAO:0000115 nl Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome NOT_TRANSLATED +en Fibrous dysplasia of the bones were lesions are localized in only one bone HP:0010736 IAO:0000115 nl Fibrous dysplasia of the bones were lesions are localized in only one bone NOT_TRANSLATED +en Fibrous hamartoma HP:0100882 rdfs:label nl Fibreus hamartoom CANDIDATE +en Fibrous syngnathia HP:0009754 rdfs:label nl Fibreuze syngnathie CANDIDATE +en Fibrous tissue neoplasm HP:0012316 rdfs:label nl Fibreus weefsel neoplasma CANDIDATE +en Fibular aplasia HP:0002990 rdfs:label nl Fibulaire aplasie CANDIDATE +en Fibular bowing HP:0010502 rdfs:label nl Bowing van fibula CANDIDATE +en Fibular deviation of the 2nd toe HP:0100344 rdfs:label nl Fibulaire deviatie van de 2e teen CANDIDATE +en Fibular deviation of the 3rd toe HP:0100342 rdfs:label nl Fibulaire deviatie van de 3e teen CANDIDATE +en Fibular deviation of the 4th toe HP:0100340 rdfs:label nl Fibulaire deviatie van de 4e teen CANDIDATE +en Fibular deviation of the 5th toe HP:0100346 rdfs:label nl Fibulaire deviatie van de 5e teen CANDIDATE +en Fibular deviation of toes HP:0100500 rdfs:label nl Fibulaire deviatie van de tenen CANDIDATE +en Fibular duplication HP:0010503 rdfs:label nl Fibulaire duplicatie CANDIDATE +en Fibular hypoplasia HP:0003038 rdfs:label nl Fibulaire hypoplasie CANDIDATE +en Fibular metaphyseal irregularity HP:0030293 rdfs:label nl Onregelmatigheid van metafyse van fibula CANDIDATE +en Fibular overgrowth HP:0003099 rdfs:label nl Fibulaire overgroei CANDIDATE +en Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637) HP:0011431 IAO:0000115 nl Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637) NOT_TRANSLATED +en Fifth finger distal phalanx clinodactyly HP:0005769 rdfs:label nl Vijfde vinger distale falanx clinodactylie CANDIDATE +en Fifth metacarpal with ulnar notch HP:0005900 rdfs:label nl Vijfde metacarpaal met ulnaire notch CANDIDATE +en Fine hair HP:0002213 rdfs:label nl Fijn haar CANDIDATE +en Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG HP:0010546 IAO:0000115 nl Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG NOT_TRANSLATED +en Fine, reticulate skin pigmentation HP:0007617 rdfs:label nl Fijne, reticulaire huidpigmentatie CANDIDATE +en Finger agnosia HP:0010525 rdfs:label nl Vinger-agnosie CANDIDATE +en Finger clinodactyly HP:0040019 rdfs:label nl Vinger clinodactylie CANDIDATE +en Finger dactylitis HP:0031090 rdfs:label nl Vinger dactylitis CANDIDATE +en Finger flexor weakness HP:0031177 rdfs:label nl Vinger flexor zwakte CANDIDATE +en Finger hyperphalangy HP:0030367 rdfs:label nl Vinger hyperfalangie CANDIDATE +en Finger joint contracture HP:0034681 rdfs:label nl Vingergewricht contractuur OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Finger joint hypermobility HP:0006094 rdfs:label nl Vingergewricht hypermobiliteit CANDIDATE +en Finger pain HP:0030837 rdfs:label nl Vinger pijn CANDIDATE +en Finger swelling HP:0025131 rdfs:label nl Zwelling van de vinger CANDIDATE +en Finger symphalangism HP:0009700 rdfs:label nl Vinger symfalangisme CANDIDATE +en Finger syndactyly HP:0006101 rdfs:label nl Vingersyndactylie CANDIDATE +en Fingernail dysplasia HP:0100798 rdfs:label nl Vingernagel dysplasie CANDIDATE +en Fingernail that appears thin when viewed on end HP:0012742 IAO:0000115 nl Fingernail that appears thin when viewed on end NOT_TRANSLATED +en Fingerpad telangiectases HP:0006107 rdfs:label nl Fingerpad telangiectases NOT_TRANSLATED +en Fingerprint bodies HP:0034508 rdfs:label nl Fingerprint bodies NOT_TRANSLATED +en Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints HP:0034508 IAO:0000115 nl Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints NOT_TRANSLATED +en Fingerprint intracellular accumulation of autofluorescent lipopigment storage material HP:0003208 rdfs:label nl Fingerprint intracellular accumulation of autofluorescent lipopigment storage material NOT_TRANSLATED +en Fingers appear swollen and plump owing to inflammation of the complete finger HP:0031090 IAO:0000115 nl Fingers appear swollen and plump owing to inflammation of the complete finger NOT_TRANSLATED +en Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual HP:0001238 IAO:0000115 nl Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual NOT_TRANSLATED +en Firm muscles HP:0003725 rdfs:label nl Stevige spieren CANDIDATE +en First degree atrioventricular block HP:0011705 rdfs:label nl Eerstegraads atrioventriculair blok CANDIDATE +en First dorsal interossei muscle atrophy HP:0003426 rdfs:label nl Eerste musculus interosseus dorsalis atrofie CANDIDATE +en First dorsal interossei muscle weakness HP:0003392 rdfs:label nl Eerste musculus interosseus dorsalis Spierzwakte CANDIDATE +en First period after the age of 15 years HP:0012569 IAO:0000115 nl First period after the age of 15 years NOT_TRANSLATED +en Fish odor HP:0410020 rdfs:label nl Visgeur CANDIDATE +en Fissure within the spinal cord of the neck HP:0030325 IAO:0000115 nl Fissure within the spinal cord of the neck NOT_TRANSLATED +en Fixated interest with abnormal focus HP:4000077 rdfs:label nl Fixated interest with abnormal focus NOT_TRANSLATED +en Fixated interest with abnormal intensity HP:4000078 rdfs:label nl Fixated interest with abnormal intensity NOT_TRANSLATED +en Fixation of an object in a peripheral area of the retina HP:0031769 IAO:0000115 nl Fixation of an object in a peripheral area of the retina NOT_TRANSLATED +en Fixation of an object in the area adjacent to the fovea HP:0031768 IAO:0000115 nl Fixation of an object in the area adjacent to the fovea NOT_TRANSLATED +en Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG) HP:0025644 IAO:0000115 nl Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG) NOT_TRANSLATED +en Fixation-off epileptiform discharges HP:0025644 rdfs:label nl Fixation-off epileptiform discharges NOT_TRANSLATED +en Fixed elbow flexion HP:0006471 rdfs:label nl Vaste elleboog flexie CANDIDATE +en Fixed facial expression HP:0005329 rdfs:label nl Gefixeerde faciale expressie CANDIDATE +en Fixed head retroflexion HP:0031178 rdfs:label nl Fixed head retroflexion NOT_TRANSLATED +en Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles HP:0040212 IAO:0000115 nl Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles NOT_TRANSLATED +en Fixed splitting of the second heart sound HP:0031662 rdfs:label nl Gefixeerde splijting van tweede harttoon CANDIDATE +en Flaky paint dermatosis HP:0032178 rdfs:label nl Flaky paint dermatosis NOT_TRANSLATED +en Flame-shaped retinal hemorrhage HP:0025241 rdfs:label nl Vlam-vormige retinale bloeding CANDIDATE +en Flank pain HP:0030157 rdfs:label nl Flank pijn CANDIDATE +en Flared distal fibular metaphysis HP:0030309 rdfs:label nl Flared distal fibular metaphysis NOT_TRANSLATED +en Flared distal tibial metaphysis HP:0030308 rdfs:label nl Flared distal tibial metaphysis NOT_TRANSLATED +en Flared elbow metaphyses HP:0003950 rdfs:label nl Wijd uitlopende metafysen van de elleboog CANDIDATE +en Flared femoral metaphysis HP:0002834 rdfs:label nl Flared femoral metaphysis NOT_TRANSLATED +en Flared humeral metaphysis HP:0003911 rdfs:label nl Wijde uitlopende metafyse van de humerus CANDIDATE +en Flared iliac wing HP:0002869 rdfs:label nl Flared iliac wing NOT_TRANSLATED +en Flared lower limb metaphysis HP:0030307 rdfs:label nl Flared lower limb metaphysis NOT_TRANSLATED +en Flared metaphysis HP:0003015 rdfs:label nl Gespreide metafyse CANDIDATE +en Flared nostrils HP:0000454 rdfs:label nl Wijd uitlopende neusgaten CANDIDATE +en Flared radial metaphysis HP:0004018 rdfs:label nl Wijd uitlopende metafyse van de radius CANDIDATE +en Flared upper limb metaphysis HP:0003849 rdfs:label nl Flared upper limb metaphysis NOT_TRANSLATED +en Flared, irregular rib ends HP:0006603 rdfs:label nl Flared, irregular rib ends NOT_TRANSLATED +en Flaring (increase of width with a splayed appearance) of the humeral metaphysis HP:0003911 IAO:0000115 nl Flaring (increase of width with a splayed appearance) of the humeral metaphysis NOT_TRANSLATED +en Flaring (widening) of the epiphysis HP:0200003 IAO:0000115 nl Flaring (widening) of the epiphysis NOT_TRANSLATED +en Flaring of distal femur HP:0004975 IAO:0000115 nl Flaring of distal femur NOT_TRANSLATED +en Flaring of lower rib cage HP:0006589 rdfs:label nl Flaring of lower rib cage NOT_TRANSLATED +en Flaring of rib cage HP:0000904 rdfs:label nl Affakkelen van ribbenkast CANDIDATE +en Flat acetabular roof HP:0003180 rdfs:label nl Plat acetabulair dak CANDIDATE +en Flat capital femoral epiphysis HP:0003370 rdfs:label nl Vlakke epifyse van de femurkop CANDIDATE +en Flat cornea HP:0007720 rdfs:label nl Vlakke cornea CANDIDATE +en Flat distal femoral epiphysis HP:0006398 rdfs:label nl Vlakke distale epifyse van femur CANDIDATE +en Flat face HP:0012368 rdfs:label nl Vlak gelaat CANDIDATE +en Flat forehead HP:0004425 rdfs:label nl Vlak voorhoofd CANDIDATE +en Flat glenoid fossa HP:0000911 rdfs:label nl Platte glenoïde fossa CANDIDATE +en Flat nasal alae HP:0010649 rdfs:label nl Vlakke alea nasi CANDIDATE +en Flat occiput HP:0005469 rdfs:label nl Vlak achterhoofd CANDIDATE +en Flat posterior fossa HP:0040011 rdfs:label nl Platte posterieure fossa CANDIDATE +en Flat sella turcica HP:0100857 rdfs:label nl Vlakke sella turcica CANDIDATE +en Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border HP:0000319 IAO:0000115 nl Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border NOT_TRANSLATED +en Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented HP:0032451 IAO:0000115 nl Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented NOT_TRANSLATED +en Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture HP:0032454 IAO:0000115 nl Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture NOT_TRANSLATED +en Flatness of the supraorbital portion of the frontal bones HP:0009891 IAO:0000115 nl Flatness of the supraorbital portion of the frontal bones NOT_TRANSLATED +en Flattened epiphysis HP:0003071 rdfs:label nl Afgevlakte epifyse CANDIDATE +en Flattened femoral epiphysis HP:0030289 rdfs:label nl Afgevlakte epifyse van femur CANDIDATE +en Flattened femoral head HP:0008812 rdfs:label nl Afgevlakte femurkop CANDIDATE +en Flattened humeral epiphyses HP:0003895 rdfs:label nl Afgevlakte epifysen van de humerus CANDIDATE +en Flattened humeral heads HP:0003888 rdfs:label nl Afgevlakte humerus koppen CANDIDATE +en Flattened knee epiphyses HP:0005715 rdfs:label nl Afgevlakte epifysen van knie CANDIDATE +en Flattened metacarpal heads HP:0011909 rdfs:label nl Afgevlakte metacarpale koppen CANDIDATE +en Flattened metatarsal heads HP:0005194 rdfs:label nl Afgevlakte metatarsale koppen CANDIDATE +en Flattened moderately deformed vertebrae HP:0005752 rdfs:label nl Afgevlakte matig misvormde wervels CANDIDATE +en Flattened proximal radial epiphyses HP:0005004 rdfs:label nl Afgevlakte proximale epifyse van de radius CANDIDATE +en Flattened radial epiphyses HP:0004002 rdfs:label nl Afgevlakte epifysen van de radius CANDIDATE +en Flattened radial head HP:0003996 rdfs:label nl Afgevlakt caput radialis CANDIDATE +en Flattened, squared-off epiphyses of tubular bones HP:0006172 rdfs:label nl Flattened, squared-off epiphyses of tubular bones NOT_TRANSLATED +en Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual HP:0030026 IAO:0000115 nl Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual NOT_TRANSLATED +en Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does HP:0003180 IAO:0000115 nl Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does NOT_TRANSLATED +en Flattening of the talar dome HP:0008144 rdfs:label nl Flattening of the talar dome NOT_TRANSLATED +en Flatulence HP:0033589 rdfs:label nl Flatulence NOT_TRANSLATED +en Fleeting perceptual experiences that occur during the transition from sleep to wakefulness HP:0006896 IAO:0000115 nl Fleeting perceptual experiences that occur during the transition from sleep to wakefulness NOT_TRANSLATED +en Fleeting perceptual experiences that occur during the transition from wakefulness to sleep HP:0002519 IAO:0000115 nl Fleeting perceptual experiences that occur during the transition from wakefulness to sleep NOT_TRANSLATED +en Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum HP:0025509 IAO:0000115 nl Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum NOT_TRANSLATED +en Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate) HP:0100804 IAO:0000115 nl Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate) NOT_TRANSLATED +en Flexion contracture HP:0001371 rdfs:label nl Flexiecontractuur CANDIDATE +en Flexion contracture of 3rd toe HP:0010333 rdfs:label nl Flexiecontractuur van de 3e teen CANDIDATE +en Flexion contracture of digit HP:0030044 rdfs:label nl Flexiecontractuur van de vinger/teen CANDIDATE +en Flexion contracture of finger HP:0012785 rdfs:label nl Flexiecontractuur van de vinger CANDIDATE +en Flexion contracture of the 2nd finger HP:0009537 rdfs:label nl Flexiecontractuur van de 2e vinger CANDIDATE +en Flexion contracture of the 2nd toe HP:0010327 rdfs:label nl Flexiecontractuur van de 2e teen CANDIDATE +en Flexion contracture of the 4th toe HP:0010339 rdfs:label nl Flexiecontractuur van de 4e teen CANDIDATE +en Flexion contracture of the 5th toe HP:0010345 rdfs:label nl Flexiecontractuur van de 5e teen CANDIDATE +en Flexion contracture of the hallux HP:0010212 rdfs:label nl Flexiecontractuur van de hallux CANDIDATE +en Flexion contracture of thumb HP:0009600 rdfs:label nl Flexiecontractuur van de duim CANDIDATE +en Flexion contracture of toe HP:0005830 rdfs:label nl Flexiecontractuur van de teen CANDIDATE +en Flexion limitation of toes HP:0008116 rdfs:label nl Flexie beperking van tenen CANDIDATE +en Flexner-Wintersteiner rosette HP:0031927 rdfs:label nl Flexner-Wintersteiner rosette NOT_TRANSLATED +en Flexural lichenification HP:0007453 rdfs:label nl Flexurale lichenificatie CANDIDATE +en Floppy eyelid HP:0032029 rdfs:label nl Floppy eyelid NOT_TRANSLATED +en Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery HP:0032654 IAO:0000115 nl Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery NOT_TRANSLATED +en Fluctuating HP:0031914 rdfs:label nl Fluctuating NOT_TRANSLATED +en Fluctuating hepatomegaly HP:0006564 rdfs:label nl Fluctuerende hepatomegalie CANDIDATE +en Fluctuating splenomegaly HP:0006268 rdfs:label nl Fluctuerende splenomegalie CANDIDATE +en Fluctuations in consciousness HP:0007159 rdfs:label nl Fluctuaties in bewustzijn CANDIDATE +en Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels HP:0030497 IAO:0000115 nl Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED +en Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels HP:0031606 IAO:0000115 nl Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels NOT_TRANSLATED +en Fluid accumulation in the lungs HP:0100598 IAO:0000115 nl Fluid accumulation in the lungs NOT_TRANSLATED +en Fluid exuded from the posterior wall of the pharynx HP:0034035 IAO:0000115 nl Fluid exuded from the posterior wall of the pharynx NOT_TRANSLATED +en Fluid retention and edema in the intestine caused by a compromised lymphatic system HP:0004788 IAO:0000115 nl Fluid retention and edema in the intestine caused by a compromised lymphatic system NOT_TRANSLATED +en Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina HP:0001147 IAO:0000115 nl Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina NOT_TRANSLATED +en Flushing HP:0031284 rdfs:label nl Flushing NOT_TRANSLATED +en Foam cells HP:0003651 rdfs:label nl Schuimcellen CANDIDATE +en Foam cells with lamellar inclusion bodies HP:0003609 rdfs:label nl Schuimcellen met lamellaire inclusielichaampjes CANDIDATE +en Foamy urine HP:0031504 rdfs:label nl Schuimende urine CANDIDATE +en Focal HP:0030650 rdfs:label nl Focaal CANDIDATE +en Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy) HP:0010843 IAO:0000115 nl Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy) NOT_TRANSLATED +en Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp HP:0011188 IAO:0000115 nl Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp NOT_TRANSLATED +en Focal EEG discharges with propagation to ipsilateral hemisphere HP:0011187 rdfs:label nl Focale EEG ontladingen met verspreiding naar ipsilaterale hemisfeer CANDIDATE +en Focal EEG discharges with secondary generalization HP:0011188 rdfs:label nl Focale EEG ontladingen met secundaire generalisatie CANDIDATE +en Focal T2 hyperintense basal ganglia lesion HP:0007183 rdfs:label nl Focale T2 hyperintense basale ganglia laesie CANDIDATE +en Focal T2 hyperintense brainstem lesion HP:0012748 rdfs:label nl Focale T2 hyperintense hersenstam laesie CANDIDATE +en Focal T2 hyperintense thalamic lesion HP:0012692 rdfs:label nl Focale T2 hyperintense thalamus lesie CANDIDATE +en Focal T2 hypointense basal ganglia lesion HP:0012752 rdfs:label nl Focale T2 hypointense basale ganglia laesie CANDIDATE +en Focal T2 hypointense brainstem lesion HP:0012749 rdfs:label nl Focale T2 hypointense hersenstam laesie CANDIDATE +en Focal T2 hypointense thalamic lesion HP:0012691 rdfs:label nl Focale T2 hypointense thalamus lesie CANDIDATE +en Focal absence of the external ear HP:0400003 rdfs:label nl Focale afwezigheid van het externe oor CANDIDATE +en Focal accumulation of dilated pulmonary capillaries HP:0033427 IAO:0000115 nl Focal accumulation of dilated pulmonary capillaries NOT_TRANSLATED +en Focal active colitis HP:0033164 rdfs:label nl Focal active colitis NOT_TRANSLATED +en Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation HP:0033164 IAO:0000115 nl Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation NOT_TRANSLATED +en Focal atonic seizure HP:0020220 rdfs:label nl Focal atonic seizure NOT_TRANSLATED +en Focal automatism seizure HP:0032898 rdfs:label nl Focal automatism seizure NOT_TRANSLATED +en Focal autonomic seizure HP:0011154 rdfs:label nl Focale autonome insulten CANDIDATE +en Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP:0011159 rdfs:label nl Epigastrische auras CANDIDATE +en Focal autonomic seizure with erection HP:0032764 rdfs:label nl Focal autonomic seizure with erection NOT_TRANSLATED +en Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration HP:0032766 rdfs:label nl Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration NOT_TRANSLATED +en Focal autonomic seizure with lacrimation HP:0032771 rdfs:label nl Focal autonomic seizure with lacrimation NOT_TRANSLATED +en Focal autonomic seizure with pallor/flushing HP:0032762 rdfs:label nl Focal autonomic seizure with pallor/flushing NOT_TRANSLATED +en Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032773 rdfs:label nl Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole NOT_TRANSLATED +en Focal autonomic seizure with piloerection HP:0032767 rdfs:label nl Focal autonomic seizure with piloerection NOT_TRANSLATED +en Focal autonomic seizure with pupillary dilation/constriction HP:0032763 rdfs:label nl Focal autonomic seizure with pupillary dilation/constriction NOT_TRANSLATED +en Focal autonomic seizure with urge to urinate/defecate HP:0032765 rdfs:label nl Focal autonomic seizure with urge to urinate/defecate NOT_TRANSLATED +en Focal aware atonic seizure HP:0020218 rdfs:label nl Focal aware atonic seizure NOT_TRANSLATED +en Focal aware automatism seizure HP:0032910 rdfs:label nl Focal aware automatism seizure NOT_TRANSLATED +en Focal aware autonomic seizure HP:0032740 rdfs:label nl Focal aware autonomic seizure NOT_TRANSLATED +en Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP:0032785 rdfs:label nl Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena NOT_TRANSLATED +en Focal aware autonomic seizure with erection HP:0032770 rdfs:label nl Focal aware autonomic seizure with erection NOT_TRANSLATED +en Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration HP:0032769 rdfs:label nl Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration NOT_TRANSLATED +en Focal aware autonomic seizure with lacrimation HP:0032776 rdfs:label nl Focal aware autonomic seizure with lacrimation NOT_TRANSLATED +en Focal aware autonomic seizure with pallor/flushing HP:0032761 rdfs:label nl Focal aware autonomic seizure with pallor/flushing NOT_TRANSLATED +en Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032784 rdfs:label nl Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole NOT_TRANSLATED +en Focal aware autonomic seizure with piloerection HP:0032783 rdfs:label nl Focal aware autonomic seizure with piloerection NOT_TRANSLATED +en Focal aware autonomic seizure with pupillary dilation/constriction HP:0032768 rdfs:label nl Focal aware autonomic seizure with pupillary dilation/constriction NOT_TRANSLATED +en Focal aware autonomic seizure with urge to urinate/defecate HP:0032781 rdfs:label nl Focal aware autonomic seizure with urge to urinate/defecate NOT_TRANSLATED +en Focal aware behavior arrest seizure HP:0032789 rdfs:label nl Focal aware behavior arrest seizure NOT_TRANSLATED +en Focal aware bilateral motor seizure HP:0032856 rdfs:label nl Focal aware bilateral motor seizure NOT_TRANSLATED +en Focal aware clonic seizure HP:0032711 rdfs:label nl Focal aware clonic seizure NOT_TRANSLATED +en Focal aware cognitive seizure HP:0032681 rdfs:label nl Focal aware cognitive seizure NOT_TRANSLATED +en Focal aware cognitive seizure with anomia HP:0032708 rdfs:label nl Focal aware cognitive seizure with anomia NOT_TRANSLATED +en Focal aware cognitive seizure with auditory agnosia HP:0032684 rdfs:label nl Focal aware cognitive seizure with auditory agnosia NOT_TRANSLATED +en Focal aware cognitive seizure with conduction dysphasia/aphasia HP:0032876 rdfs:label nl Focal aware cognitive seizure with conduction dysphasia/aphasia NOT_TRANSLATED +en Focal aware cognitive seizure with deja vu/jamais vu HP:0032883 rdfs:label nl Focal aware cognitive seizure with deja vu/jamais vu NOT_TRANSLATED +en Focal aware cognitive seizure with dissociation HP:0032688 rdfs:label nl Focal aware cognitive seizure with dissociation NOT_TRANSLATED +en Focal aware cognitive seizure with dyscalculia/acalculia HP:0032690 rdfs:label nl Focal aware cognitive seizure with dyscalculia/acalculia NOT_TRANSLATED +en Focal aware cognitive seizure with dysgraphia/agraphia HP:0032709 rdfs:label nl Focal aware cognitive seizure with dysgraphia/agraphia NOT_TRANSLATED +en Focal aware cognitive seizure with dyslexia/alexia HP:0032707 rdfs:label nl Focal aware cognitive seizure with dyslexia/alexia NOT_TRANSLATED +en Focal aware cognitive seizure with expressive dysphasia/aphasia HP:0032850 rdfs:label nl Focal aware cognitive seizure with expressive dysphasia/aphasia NOT_TRANSLATED +en Focal aware cognitive seizure with forced thinking HP:0032705 rdfs:label nl Focal aware cognitive seizure with forced thinking NOT_TRANSLATED +en Focal aware cognitive seizure with hallucination HP:0032871 rdfs:label nl Focal aware cognitive seizure with hallucination NOT_TRANSLATED +en Focal aware cognitive seizure with illusion HP:0032704 rdfs:label nl Focal aware cognitive seizure with illusion NOT_TRANSLATED +en Focal aware cognitive seizure with left-right confusion HP:0032706 rdfs:label nl Focal aware cognitive seizure with left-right confusion NOT_TRANSLATED +en Focal aware cognitive seizure with memory impairment HP:0032686 rdfs:label nl Focal aware cognitive seizure with memory impairment NOT_TRANSLATED +en Focal aware cognitive seizure with neglect HP:0032848 rdfs:label nl Focal aware cognitive seizure with neglect NOT_TRANSLATED +en Focal aware cognitive seizure with receptive dysphasia/aphasia HP:0032710 rdfs:label nl Focal aware cognitive seizure with receptive dysphasia/aphasia NOT_TRANSLATED +en Focal aware emotional seizure HP:0032734 rdfs:label nl Focal aware emotional seizure NOT_TRANSLATED +en Focal aware emotional seizure with agitation HP:0032744 rdfs:label nl Focal aware emotional seizure with agitation NOT_TRANSLATED +en Focal aware emotional seizure with anger HP:0032735 rdfs:label nl Focal aware emotional seizure with anger NOT_TRANSLATED +en Focal aware emotional seizure with crying HP:0032743 rdfs:label nl Focal aware emotional seizure with crying NOT_TRANSLATED +en Focal aware emotional seizure with fear/anxiety/panic HP:0032738 rdfs:label nl Focal aware emotional seizure with fear/anxiety/panic NOT_TRANSLATED +en Focal aware emotional seizure with laughing HP:0032745 rdfs:label nl Focal aware emotional seizure with laughing NOT_TRANSLATED +en Focal aware emotional seizure with paranoia HP:0032741 rdfs:label nl Focal aware emotional seizure with paranoia NOT_TRANSLATED +en Focal aware emotional seizure with pleasure HP:0032742 rdfs:label nl Focal aware emotional seizure with pleasure NOT_TRANSLATED +en Focal aware epileptic spasm HP:0032845 rdfs:label nl Focal aware epileptic spasm NOT_TRANSLATED +en Focal aware head nodding automatism seizure HP:0032919 rdfs:label nl Focal aware head nodding automatism seizure NOT_TRANSLATED +en Focal aware hemiclonic seizure HP:0032757 rdfs:label nl Focal aware hemiclonic seizure NOT_TRANSLATED +en Focal aware hemifacial clonic seizure HP:0032854 rdfs:label nl Focal aware hemifacial clonic seizure NOT_TRANSLATED +en Focal aware hyperkinetic seizure HP:0032731 rdfs:label nl Focal aware hyperkinetic seizure NOT_TRANSLATED +en Focal aware manual automatism seizure HP:0032912 rdfs:label nl Focal aware manual automatism seizure NOT_TRANSLATED +en Focal aware motor seizure HP:0020217 rdfs:label nl Focal aware motor seizure NOT_TRANSLATED +en Focal aware motor seizure with dysarthria/anarthria HP:0032733 rdfs:label nl Focal aware motor seizure with dysarthria/anarthria NOT_TRANSLATED +en Focal aware motor seizure with dystonia HP:0032723 rdfs:label nl Focal aware motor seizure with dystonia NOT_TRANSLATED +en Focal aware motor seizure with negative myoclonus HP:0032857 rdfs:label nl Focal aware motor seizure with negative myoclonus NOT_TRANSLATED +en Focal aware motor seizure with paresis/paralysis HP:0032732 rdfs:label nl Focal aware motor seizure with paresis/paralysis NOT_TRANSLATED +en Focal aware motor seizure with version HP:0032891 rdfs:label nl Focal aware motor seizure with version NOT_TRANSLATED +en Focal aware myoclonic seizure HP:0032758 rdfs:label nl Focal aware myoclonic seizure NOT_TRANSLATED +en Focal aware non-motor seizure HP:0032682 rdfs:label nl Focal aware non-motor seizure NOT_TRANSLATED +en Focal aware orofacial automatism seizure HP:0032911 rdfs:label nl Focal aware orofacial automatism seizure NOT_TRANSLATED +en Focal aware pedal automatism seizure HP:0032913 rdfs:label nl Focal aware pedal automatism seizure NOT_TRANSLATED +en Focal aware perseverative automatism seizure HP:0032914 rdfs:label nl Focal aware perseverative automatism seizure NOT_TRANSLATED +en Focal aware seizure HP:0002349 rdfs:label nl Focale aanvallen zonder aantasting van bewustzijn CANDIDATE +en Focal aware sensory seizure HP:0032754 rdfs:label nl Focal aware sensory seizure NOT_TRANSLATED +en Focal aware sensory seizure with auditory features HP:0032864 rdfs:label nl Focal aware sensory seizure with auditory features NOT_TRANSLATED +en Focal aware sensory seizure with cephalic sensation HP:0032873 rdfs:label nl Focal aware sensory seizure with cephalic sensation NOT_TRANSLATED +en Focal aware sensory seizure with gustatory features HP:0032889 rdfs:label nl Focal aware sensory seizure with gustatory features NOT_TRANSLATED +en Focal aware sensory seizure with hot-cold sensations HP:0032877 rdfs:label nl Focal aware sensory seizure with hot-cold sensations NOT_TRANSLATED +en Focal aware sensory seizure with olfactory features HP:0032797 rdfs:label nl Focal aware sensory seizure with olfactory features NOT_TRANSLATED +en Focal aware sensory seizure with somatosensory features HP:0032884 rdfs:label nl Focal aware sensory seizure with somatosensory features NOT_TRANSLATED +en Focal aware sensory seizure with vestibular features HP:0032800 rdfs:label nl Focal aware sensory seizure with vestibular features NOT_TRANSLATED +en Focal aware sensory seizure with visual features HP:0032851 rdfs:label nl Focal aware sensory seizure with visual features NOT_TRANSLATED +en Focal aware sexual automatism seizure HP:0032917 rdfs:label nl Focal aware sexual automatism seizure NOT_TRANSLATED +en Focal aware tonic seizure HP:0032722 rdfs:label nl Focal aware tonic seizure NOT_TRANSLATED +en Focal aware undressing automatism seizure HP:0032908 rdfs:label nl Focal aware undressing automatism seizure NOT_TRANSLATED +en Focal aware verbal automatism seizure HP:0032916 rdfs:label nl Focal aware verbal automatism seizure NOT_TRANSLATED +en Focal aware vocal automatism seizure HP:0032915 rdfs:label nl Focal aware vocal automatism seizure NOT_TRANSLATED +en Focal behavior arrest seizure HP:0011173 rdfs:label nl Hypokinetische aanvallen CANDIDATE +en Focal bilateral motor seizure HP:0032715 rdfs:label nl Focal bilateral motor seizure NOT_TRANSLATED +en Focal clonic seizure HP:0002266 rdfs:label nl Focale clonische aanvallen CANDIDATE +en Focal cognitive seizure HP:0032680 rdfs:label nl Focal cognitive seizure NOT_TRANSLATED +en Focal cognitive seizure with anomia HP:0032701 rdfs:label nl Focal cognitive seizure with anomia NOT_TRANSLATED +en Focal cognitive seizure with auditory agnosia HP:0032685 rdfs:label nl Focal cognitive seizure with auditory agnosia NOT_TRANSLATED +en Focal cognitive seizure with conduction dysphasia/aphasia HP:0032698 rdfs:label nl Focal cognitive seizure with conduction dysphasia/aphasia NOT_TRANSLATED +en Focal cognitive seizure with deja vu/jamais vu HP:0012004 rdfs:label nl Mnemonische auras CANDIDATE +en Focal cognitive seizure with dissociation HP:0032689 rdfs:label nl Focal cognitive seizure with dissociation NOT_TRANSLATED +en Focal cognitive seizure with dyscalculia/acalculia HP:0032691 rdfs:label nl Focal cognitive seizure with dyscalculia/acalculia NOT_TRANSLATED +en Focal cognitive seizure with dysgraphia/agraphia HP:0032699 rdfs:label nl Focal cognitive seizure with dysgraphia/agraphia NOT_TRANSLATED +en Focal cognitive seizure with dyslexia/alexia HP:0032694 rdfs:label nl Focal cognitive seizure with dyslexia/alexia NOT_TRANSLATED +en Focal cognitive seizure with expressive dysphasia/aphasia HP:0032702 rdfs:label nl Focal cognitive seizure with expressive dysphasia/aphasia NOT_TRANSLATED +en Focal cognitive seizure with forced thinking HP:0032692 rdfs:label nl Focal cognitive seizure with forced thinking NOT_TRANSLATED +en Focal cognitive seizure with hallucination HP:0012007 rdfs:label nl Hallucinerende auras CANDIDATE +en Focal cognitive seizure with illusion HP:0012008 rdfs:label nl Focal cognitive seizure with illusion NOT_TRANSLATED +en Focal cognitive seizure with left-right confusion HP:0032700 rdfs:label nl Focal cognitive seizure with left-right confusion NOT_TRANSLATED +en Focal cognitive seizure with memory impairment HP:0032687 rdfs:label nl Focal cognitive seizure with memory impairment NOT_TRANSLATED +en Focal cognitive seizure with neglect HP:0032693 rdfs:label nl Focal cognitive seizure with neglect NOT_TRANSLATED +en Focal cognitive seizure with receptive dysphasia/aphasia HP:0032696 rdfs:label nl Focal cognitive seizure with receptive dysphasia/aphasia NOT_TRANSLATED +en Focal cortical dysplasia HP:0032046 rdfs:label nl Focal cortical dysplasia NOT_TRANSLATED +en Focal cortical dysplasia type I HP:0032047 rdfs:label nl Focal cortical dysplasia type I NOT_TRANSLATED +en Focal cortical dysplasia type II HP:0032051 rdfs:label nl Focal cortical dysplasia type II NOT_TRANSLATED +en Focal cortical dysplasia type III HP:0032054 rdfs:label nl Focal cortical dysplasia type III NOT_TRANSLATED +en Focal cortical dysplasia type IIIa HP:0032055 rdfs:label nl Focal cortical dysplasia type IIIa NOT_TRANSLATED +en Focal cortical dysplasia type IIIb HP:0032056 rdfs:label nl Focal cortical dysplasia type IIIb NOT_TRANSLATED +en Focal cortical dysplasia type IIIc HP:0032057 rdfs:label nl Focal cortical dysplasia type IIIc NOT_TRANSLATED +en Focal cortical dysplasia type IIId HP:0032058 rdfs:label nl Focal cortical dysplasia type IIId NOT_TRANSLATED +en Focal cortical dysplasia type IIa HP:0032052 rdfs:label nl Focal cortical dysplasia type IIa NOT_TRANSLATED +en Focal cortical dysplasia type IIb HP:0032053 rdfs:label nl Focal cortical dysplasia type IIb NOT_TRANSLATED +en Focal cortical dysplasia type Ia HP:0032048 rdfs:label nl Focal cortical dysplasia type Ia NOT_TRANSLATED +en Focal cortical dysplasia type Ib HP:0032049 rdfs:label nl Focal cortical dysplasia type Ib NOT_TRANSLATED +en Focal cortical dysplasia type Ic HP:0032050 rdfs:label nl Focal cortical dysplasia type Ic NOT_TRANSLATED +en Focal dermal aplasia/hypoplasia HP:0007510 rdfs:label nl Focale dermale aplasie/hypoplasie CANDIDATE +en Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth HP:0025689 IAO:0000115 nl Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth NOT_TRANSLATED +en Focal dilation of the umbilical vein HP:0030656 IAO:0000115 nl Focal dilation of the umbilical vein NOT_TRANSLATED +en Focal dystonia HP:0004373 rdfs:label nl Focale dystonie CANDIDATE +en Focal emotional seizure HP:0025613 rdfs:label nl Focal emotional seizure NOT_TRANSLATED +en Focal emotional seizure with agitation HP:0032727 rdfs:label nl Focal emotional seizure with agitation NOT_TRANSLATED +en Focal emotional seizure with agitation in which awareness is retained throughout HP:0032744 IAO:0000115 nl Focal emotional seizure with agitation in which awareness is retained throughout NOT_TRANSLATED +en Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures HP:0032727 IAO:0000115 nl Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures NOT_TRANSLATED +en Focal emotional seizure with anger HP:0032736 rdfs:label nl Focal emotional seizure with anger NOT_TRANSLATED +en Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure HP:0032748 IAO:0000115 nl Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en Focal emotional seizure with anger in which awareness is retained throughout HP:0032735 IAO:0000115 nl Focal emotional seizure with anger in which awareness is retained throughout NOT_TRANSLATED +en Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour HP:0032736 IAO:0000115 nl Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour NOT_TRANSLATED +en Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures HP:0032739 IAO:0000115 nl Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures NOT_TRANSLATED +en Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure HP:0032752 IAO:0000115 nl Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout HP:0032738 IAO:0000115 nl Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout NOT_TRANSLATED +en Focal emotional seizure with crying HP:0010820 rdfs:label nl Dacrystische aanvallen CANDIDATE +en Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present HP:0010820 IAO:0000115 nl Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present NOT_TRANSLATED +en Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout HP:0032743 IAO:0000115 nl Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout NOT_TRANSLATED +en Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure HP:0032751 IAO:0000115 nl Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en Focal emotional seizure with fear/anxiety/panic HP:0032739 rdfs:label nl Focal emotional seizure with fear/anxiety/panic NOT_TRANSLATED +en Focal emotional seizure with laughing HP:0010821 rdfs:label nl Gelastische aanvallen CANDIDATE +en Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless' HP:0010821 IAO:0000115 nl Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless' NOT_TRANSLATED +en Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure HP:0032750 IAO:0000115 nl Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en Focal emotional seizure with laughing in which awareness is retained throughout HP:0032745 IAO:0000115 nl Focal emotional seizure with laughing in which awareness is retained throughout NOT_TRANSLATED +en Focal emotional seizure with paranoia HP:0032737 rdfs:label nl Focal emotional seizure with paranoia NOT_TRANSLATED +en Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure HP:0032749 IAO:0000115 nl Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en Focal emotional seizure with paranoia in which awareness is retained throughout HP:0032741 IAO:0000115 nl Focal emotional seizure with paranoia in which awareness is retained throughout NOT_TRANSLATED +en Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure HP:0032737 IAO:0000115 nl Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure NOT_TRANSLATED +en Focal emotional seizure with pleasure HP:0032729 rdfs:label nl Focal emotional seizure with pleasure NOT_TRANSLATED +en Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure HP:0032747 IAO:0000115 nl Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure NOT_TRANSLATED +en Focal emotional seizure with pleasure in which awareness is retained throughout HP:0032742 IAO:0000115 nl Focal emotional seizure with pleasure in which awareness is retained throughout NOT_TRANSLATED +en Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy HP:0032729 IAO:0000115 nl Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy NOT_TRANSLATED +en Focal epileptiform EEG discharges recorded in the central region HP:0033718 IAO:0000115 nl Focal epileptiform EEG discharges recorded in the central region NOT_TRANSLATED +en Focal epileptiform EEG discharges recorded in the centrotemporal region HP:0033721 IAO:0000115 nl Focal epileptiform EEG discharges recorded in the centrotemporal region NOT_TRANSLATED +en Focal epileptiform EEG discharges recorded in the frontal region HP:0033716 IAO:0000115 nl Focal epileptiform EEG discharges recorded in the frontal region NOT_TRANSLATED +en Focal epileptiform EEG discharges recorded in the occipital region HP:0033720 IAO:0000115 nl Focal epileptiform EEG discharges recorded in the occipital region NOT_TRANSLATED +en Focal epileptiform EEG discharges recorded in the parietal region HP:0033719 IAO:0000115 nl Focal epileptiform EEG discharges recorded in the parietal region NOT_TRANSLATED +en Focal epileptiform EEG discharges recorded in the temporal region HP:0033717 IAO:0000115 nl Focal epileptiform EEG discharges recorded in the temporal region NOT_TRANSLATED +en Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0011183 IAO:0000115 nl Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en Focal epileptiform discharges of different shapes and frequencies HP:0011192 IAO:0000115 nl Focal epileptiform discharges of different shapes and frequencies NOT_TRANSLATED +en Focal epileptiform discharges with limited propagation to contralateral hemisphere HP:0011186 rdfs:label nl Focale epileptiforme ontladingen met beperkte verspreiding naar contralaterale hemisfeer CANDIDATE +en Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization HP:0011186 IAO:0000115 nl Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization NOT_TRANSLATED +en Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain HP:0011187 IAO:0000115 nl Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain NOT_TRANSLATED +en Focal epithelial hyperplasia of oral mucosa HP:0410340 rdfs:label nl Focal epithelial hyperplasia of oral mucosa NOT_TRANSLATED +en Focal friction-related palmoplantar hyperkeratosis HP:0007497 rdfs:label nl Focale frictie-gerelateerde palmoplantaire hyperkeratose CANDIDATE +en Focal head nodding automatism seizure HP:0032906 rdfs:label nl Focal head nodding automatism seizure NOT_TRANSLATED +en Focal hemiclonic seizure HP:0006813 rdfs:label nl Hemiclonische insulten CANDIDATE +en Focal hemifacial clonic seizure HP:0007332 rdfs:label nl Hemifaciale spasmen CANDIDATE +en Focal hyperextensible skin HP:0007458 rdfs:label nl Focale hyperextensibele huid CANDIDATE +en Focal hyperintensity of cerebral white matter on MRI HP:0040328 rdfs:label nl Focale hyperintensiteit van cerebrale witte stof op MRI CANDIDATE +en Focal hyperkinetic seizure HP:0011174 rdfs:label nl Hyperkinetische aanvallen CANDIDATE +en Focal hypointensity of cerebral white matter on MRI HP:0040331 rdfs:label nl Focale hypointensiteit van cerebrale witte stof op MRI CANDIDATE +en Focal impaired awareness atonic seizure HP:0032728 rdfs:label nl Focal impaired awareness atonic seizure NOT_TRANSLATED +en Focal impaired awareness automatism seizure HP:0032909 rdfs:label nl Focal impaired awareness automatism seizure NOT_TRANSLATED +en Focal impaired awareness autonomic seizure HP:0032755 rdfs:label nl Focal impaired awareness autonomic seizure NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena HP:0032778 rdfs:label nl Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with erection HP:0032780 rdfs:label nl Focal impaired awareness autonomic seizure with erection NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration HP:0032775 rdfs:label nl Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with lacrimation HP:0032782 rdfs:label nl Focal impaired awareness autonomic seizure with lacrimation NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with pallor/flushing HP:0032777 rdfs:label nl Focal impaired awareness autonomic seizure with pallor/flushing NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole HP:0032788 rdfs:label nl Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with piloerection HP:0032772 rdfs:label nl Focal impaired awareness autonomic seizure with piloerection NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with pupillary dilation/constriction HP:0032779 rdfs:label nl Focal impaired awareness autonomic seizure with pupillary dilation/constriction NOT_TRANSLATED +en Focal impaired awareness autonomic seizure with urge to urinate/defecate HP:0032774 rdfs:label nl Focal impaired awareness autonomic seizure with urge to urinate/defecate NOT_TRANSLATED +en Focal impaired awareness behavior arrest seizure HP:0032790 rdfs:label nl Focal impaired awareness behavior arrest seizure NOT_TRANSLATED +en Focal impaired awareness bilateral motor seizure HP:0032714 rdfs:label nl Focal impaired awareness bilateral motor seizure NOT_TRANSLATED +en Focal impaired awareness clonic seizure HP:0032725 rdfs:label nl Focal impaired awareness clonic seizure NOT_TRANSLATED +en Focal impaired awareness cognitive seizure HP:0032756 rdfs:label nl Focal impaired awareness cognitive seizure NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with anomia HP:0032791 rdfs:label nl Focal impaired awareness cognitive seizure with anomia NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with auditory agnosia HP:0032874 rdfs:label nl Focal impaired awareness cognitive seizure with auditory agnosia NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia HP:0032852 rdfs:label nl Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with deja vu/jamais vu HP:0032882 rdfs:label nl Focal impaired awareness cognitive seizure with deja vu/jamais vu NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with dyscalculia/acalculia HP:0032802 rdfs:label nl Focal impaired awareness cognitive seizure with dyscalculia/acalculia NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with dysgraphia/agraphia HP:0032803 rdfs:label nl Focal impaired awareness cognitive seizure with dysgraphia/agraphia NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with dyslexia/alexia HP:0032870 rdfs:label nl Focal impaired awareness cognitive seizure with dyslexia/alexia NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia HP:0032886 rdfs:label nl Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with forced thinking HP:0032888 rdfs:label nl Focal impaired awareness cognitive seizure with forced thinking NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with hallucination HP:0032885 rdfs:label nl Focal impaired awareness cognitive seizure with hallucination NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with illusion HP:0032872 rdfs:label nl Focal impaired awareness cognitive seizure with illusion NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with left-right confusion HP:0032796 rdfs:label nl Focal impaired awareness cognitive seizure with left-right confusion NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with memory impairment HP:0032801 rdfs:label nl Focal impaired awareness cognitive seizure with memory impairment NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with neglect HP:0032798 rdfs:label nl Focal impaired awareness cognitive seizure with neglect NOT_TRANSLATED +en Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia HP:0032793 rdfs:label nl Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia NOT_TRANSLATED +en Focal impaired awareness emotional seizure HP:0032746 rdfs:label nl Focal impaired awareness emotional seizure NOT_TRANSLATED +en Focal impaired awareness emotional seizure with agitation HP:0032753 rdfs:label nl Focal impaired awareness emotional seizure with agitation NOT_TRANSLATED +en Focal impaired awareness emotional seizure with anger HP:0032748 rdfs:label nl Focal impaired awareness emotional seizure with anger NOT_TRANSLATED +en Focal impaired awareness emotional seizure with crying HP:0032751 rdfs:label nl Focal impaired awareness emotional seizure with crying NOT_TRANSLATED +en Focal impaired awareness emotional seizure with fear/anxiety/panic HP:0032752 rdfs:label nl Focal impaired awareness emotional seizure with fear/anxiety/panic NOT_TRANSLATED +en Focal impaired awareness emotional seizure with laughing HP:0032750 rdfs:label nl Focal impaired awareness emotional seizure with laughing NOT_TRANSLATED +en Focal impaired awareness emotional seizure with paranoia HP:0032749 rdfs:label nl Focal impaired awareness emotional seizure with paranoia NOT_TRANSLATED +en Focal impaired awareness emotional seizure with pleasure HP:0032747 rdfs:label nl Focal impaired awareness emotional seizure with pleasure NOT_TRANSLATED +en Focal impaired awareness epileptic spasm HP:0032844 rdfs:label nl Focal impaired awareness epileptic spasm NOT_TRANSLATED +en Focal impaired awareness head nodding automatism seizure HP:0032926 rdfs:label nl Focal impaired awareness head nodding automatism seizure NOT_TRANSLATED +en Focal impaired awareness hemiclonic seizure HP:0032799 rdfs:label nl Focal impaired awareness hemiclonic seizure NOT_TRANSLATED +en Focal impaired awareness hemifacial clonic seizure HP:0032847 rdfs:label nl Focal impaired awareness hemifacial clonic seizure NOT_TRANSLATED +en Focal impaired awareness hyperkinetic seizure HP:0032726 rdfs:label nl Focal impaired awareness hyperkinetic seizure NOT_TRANSLATED +en Focal impaired awareness manual automatism seizure HP:0032920 rdfs:label nl Focal impaired awareness manual automatism seizure NOT_TRANSLATED +en Focal impaired awareness motor seizure HP:0032712 rdfs:label nl Focal impaired awareness motor seizure NOT_TRANSLATED +en Focal impaired awareness motor seizure with dysarthria/anarthria HP:0032719 rdfs:label nl Focal impaired awareness motor seizure with dysarthria/anarthria NOT_TRANSLATED +en Focal impaired awareness motor seizure with dystonia HP:0032717 rdfs:label nl Focal impaired awareness motor seizure with dystonia NOT_TRANSLATED +en Focal impaired awareness motor seizure with negative myoclonus HP:0032858 rdfs:label nl Focal impaired awareness motor seizure with negative myoclonus NOT_TRANSLATED +en Focal impaired awareness motor seizure with paresis/paralysis HP:0032859 rdfs:label nl Focal impaired awareness motor seizure with paresis/paralysis NOT_TRANSLATED +en Focal impaired awareness motor seizure with version HP:0032713 rdfs:label nl Focal impaired awareness motor seizure with version NOT_TRANSLATED +en Focal impaired awareness myoclonic seizure HP:0032730 rdfs:label nl Focal impaired awareness myoclonic seizure NOT_TRANSLATED +en Focal impaired awareness non-motor seizure HP:0032716 rdfs:label nl Focal impaired awareness non-motor seizure NOT_TRANSLATED +en Focal impaired awareness orofacial automatism seizure HP:0032918 rdfs:label nl Focal impaired awareness orofacial automatism seizure NOT_TRANSLATED +en Focal impaired awareness pedal automatism seizure HP:0032921 rdfs:label nl Focal impaired awareness pedal automatism seizure NOT_TRANSLATED +en Focal impaired awareness perseverative automatism seizure HP:0032922 rdfs:label nl Focal impaired awareness perseverative automatism seizure NOT_TRANSLATED +en Focal impaired awareness seizure HP:0002384 rdfs:label nl Focale aanvallen met aantasting van bewustzijn CANDIDATE +en Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure HP:0002384 IAO:0000115 nl Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure NOT_TRANSLATED +en Focal impaired awareness seizure with dissociation at onset HP:0032879 rdfs:label nl Focal impaired awareness seizure with dissociation at onset NOT_TRANSLATED +en Focal impaired awareness sensory seizure HP:0032787 rdfs:label nl Focal impaired awareness sensory seizure NOT_TRANSLATED +en Focal impaired awareness sensory seizure with auditory features HP:0032880 rdfs:label nl Focal impaired awareness sensory seizure with auditory features NOT_TRANSLATED +en Focal impaired awareness sensory seizure with cephalic sensation HP:0032878 rdfs:label nl Focal impaired awareness sensory seizure with cephalic sensation NOT_TRANSLATED +en Focal impaired awareness sensory seizure with gustatory features HP:0032897 rdfs:label nl Focal impaired awareness sensory seizure with gustatory features NOT_TRANSLATED +en Focal impaired awareness sensory seizure with hot-cold sensations HP:0032853 rdfs:label nl Focal impaired awareness sensory seizure with hot-cold sensations NOT_TRANSLATED +en Focal impaired awareness sensory seizure with olfactory features HP:0032804 rdfs:label nl Focal impaired awareness sensory seizure with olfactory features NOT_TRANSLATED +en Focal impaired awareness sensory seizure with somatosensory features HP:0032890 rdfs:label nl Focal impaired awareness sensory seizure with somatosensory features NOT_TRANSLATED +en Focal impaired awareness sensory seizure with vestibular features HP:0032805 rdfs:label nl Focal impaired awareness sensory seizure with vestibular features NOT_TRANSLATED +en Focal impaired awareness sensory seizure with visual features HP:0032806 rdfs:label nl Focal impaired awareness sensory seizure with visual features NOT_TRANSLATED +en Focal impaired awareness sexual automatism seizure HP:0032925 rdfs:label nl Focal impaired awareness sexual automatism seizure NOT_TRANSLATED +en Focal impaired awareness tonic seizure HP:0032724 rdfs:label nl Focal impaired awareness tonic seizure NOT_TRANSLATED +en Focal impaired awareness undressing automatism seizure HP:0032927 rdfs:label nl Focal impaired awareness undressing automatism seizure NOT_TRANSLATED +en Focal impaired awareness verbal automatism seizure HP:0032924 rdfs:label nl Focal impaired awareness verbal automatism seizure NOT_TRANSLATED +en Focal impaired awareness vocal automatism seizure HP:0032923 rdfs:label nl Focal impaired awareness vocal automatism seizure NOT_TRANSLATED +en Focal lissencephaly HP:0007187 rdfs:label nl Focale lissencefalie CANDIDATE +en Focal lupus nephritis HP:0033731 rdfs:label nl Focal lupus nephritis NOT_TRANSLATED +en Focal manual automatism seizure HP:0032900 rdfs:label nl Focal manual automatism seizure NOT_TRANSLATED +en Focal motor seizure HP:0011153 rdfs:label nl Focale motorische insulten CANDIDATE +en Focal motor seizure with dysarthria/anarthria HP:0032720 rdfs:label nl Focal motor seizure with dysarthria/anarthria NOT_TRANSLATED +en Focal motor seizure with dystonia HP:0032718 rdfs:label nl Focal motor seizure with dystonia NOT_TRANSLATED +en Focal motor seizure with negative myoclonus HP:0032846 rdfs:label nl Focal motor seizure with negative myoclonus NOT_TRANSLATED +en Focal motor seizure with paresis/paralysis HP:0032721 rdfs:label nl Focal motor seizure with paresis/paralysis NOT_TRANSLATED +en Focal motor seizure with version HP:0011175 rdfs:label nl Versieve aanvallen CANDIDATE +en Focal motor status epilepticus HP:0032663 rdfs:label nl Focal motor status epilepticus NOT_TRANSLATED +en Focal myoclonic seizure HP:0011166 rdfs:label nl Focale myoclonische aanvallen CANDIDATE +en Focal necrosis of right ventricular muscle cells HP:0003338 rdfs:label nl Focale necrose van spiercellen van rechter ventrikel CANDIDATE +en Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures HP:0032826 IAO:0000115 nl Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures NOT_TRANSLATED +en Focal neonatal sequential seizure HP:0032826 rdfs:label nl Focal neonatal sequential seizure NOT_TRANSLATED +en Focal non-convulsive status epilepticus with impairment of consciousness HP:0032861 rdfs:label nl Focal non-convulsive status epilepticus with impairment of consciousness NOT_TRANSLATED +en Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired HP:0032861 IAO:0000115 nl Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired NOT_TRANSLATED +en Focal non-convulsive status epilepticus without coma HP:0032673 rdfs:label nl Focal non-convulsive status epilepticus without coma NOT_TRANSLATED +en Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure HP:0032673 IAO:0000115 nl Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure NOT_TRANSLATED +en Focal non-convulsive status epilepticus without impairment of consciousness HP:0032869 rdfs:label nl Focal non-convulsive status epilepticus without impairment of consciousness NOT_TRANSLATED +en Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact HP:0032869 IAO:0000115 nl Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact NOT_TRANSLATED +en Focal non-motor seizure HP:0032679 rdfs:label nl Focal non-motor seizure NOT_TRANSLATED +en Focal orofacial automatism seizure HP:0032899 rdfs:label nl Focal orofacial automatism seizure NOT_TRANSLATED +en Focal pancreatic islet hyperplasia HP:0031223 rdfs:label nl Focale hyperplasie van de eilandjes van Langerhans CANDIDATE +en Focal pedal automatism seizure HP:0032901 rdfs:label nl Focal pedal automatism seizure NOT_TRANSLATED +en Focal perseverative automatism seizure HP:0032902 rdfs:label nl Focal perseverative automatism seizure NOT_TRANSLATED +en Focal polymicrogyria HP:0032471 rdfs:label nl Focal polymicrogyria NOT_TRANSLATED +en Focal proliferation of glial cells in the basal ganglia HP:0006999 IAO:0000115 nl Focal proliferation of glial cells in the basal ganglia NOT_TRANSLATED +en Focal proliferation of glial cells in the cerebellum HP:0012698 IAO:0000115 nl Focal proliferation of glial cells in the cerebellum NOT_TRANSLATED +en Focal proliferation of glial cells in the hypothalamus HP:0025037 IAO:0000115 nl Focal proliferation of glial cells in the hypothalamus NOT_TRANSLATED +en Focal proliferation of glial cells in the substantia nigra HP:0011960 IAO:0000115 nl Focal proliferation of glial cells in the substantia nigra NOT_TRANSLATED +en Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels HP:0033420 IAO:0000115 nl Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels NOT_TRANSLATED +en Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging HP:0033608 IAO:0000115 nl Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging NOT_TRANSLATED +en Focal segmental glomerulosclerosis HP:0000097 rdfs:label nl Focale segmentale glomerulosclerosis CANDIDATE +en Focal seizure characterized at onset by clonic movements affecting half of the face HP:0007332 IAO:0000115 nl Focal seizure characterized at onset by clonic movements affecting half of the face NOT_TRANSLATED +en Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure HP:0032847 IAO:0000115 nl Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure NOT_TRANSLATED +en Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout HP:0032854 IAO:0000115 nl Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout NOT_TRANSLATED +en Focal seizure with eyelid myoclonia HP:0011168 rdfs:label nl Ooglid myoclonieën CANDIDATE +en Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures HP:0011168 IAO:0000115 nl Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures NOT_TRANSLATED +en Focal sensory seizure HP:0011157 rdfs:label nl Auras CANDIDATE +en Focal sensory seizure with auditory features HP:0011158 rdfs:label nl Auditieve auras CANDIDATE +en Focal sensory seizure with cephalic sensation HP:0032810 rdfs:label nl Focal sensory seizure with cephalic sensation NOT_TRANSLATED +en Focal sensory seizure with gustatory features HP:0011160 rdfs:label nl Smaak auras CANDIDATE +en Focal sensory seizure with hot-cold sensations HP:0032760 rdfs:label nl Focal sensory seizure with hot-cold sensations NOT_TRANSLATED +en Focal sensory seizure with olfactory features HP:0011161 rdfs:label nl Reuk auras CANDIDATE +en Focal sensory seizure with somatosensory features HP:0011163 rdfs:label nl Somatosensore auras CANDIDATE +en Focal sensory seizure with vestibular features HP:0032759 rdfs:label nl Focal sensory seizure with vestibular features NOT_TRANSLATED +en Focal sensory seizure with visual features HP:0011165 rdfs:label nl Visuele auras CANDIDATE +en Focal sexual automatism seizure HP:0032905 rdfs:label nl Focal sexual automatism seizure NOT_TRANSLATED +en Focal spikes occurring for several seconds HP:0011194 IAO:0000115 nl Focal spikes occurring for several seconds NOT_TRANSLATED +en Focal sub-RPE deposits HP:0031532 rdfs:label nl Focale sub-RPE deposities CANDIDATE +en Focal subretinal deposits HP:0031529 rdfs:label nl Focale subretinale deposities CANDIDATE +en Focal substantia nigra T2 hyperintensity HP:0033249 rdfs:label nl Focal substantia nigra T2 hyperintensity NOT_TRANSLATED +en Focal tonic seizure HP:0011167 rdfs:label nl Focale tonische aanvallen CANDIDATE +en Focal undressing automatism seizure HP:0032907 rdfs:label nl Focal undressing automatism seizure NOT_TRANSLATED +en Focal verbal automatism seizure HP:0032904 rdfs:label nl Focal verbal automatism seizure NOT_TRANSLATED +en Focal vocal automatism seizure HP:0032903 rdfs:label nl Focal vocal automatism seizure NOT_TRANSLATED +en Focal white matter lesions HP:0007042 rdfs:label nl Focale wittestofafwijkingen CANDIDATE +en Focal-onset epileptic spasm HP:0032843 rdfs:label nl Focal-onset epileptic spasm NOT_TRANSLATED +en Focal-onset seizure HP:0007359 rdfs:label nl Focale insulten CANDIDATE +en Focal-onset seizure evolving into bilateral convulsive status epilepticus HP:0032662 rdfs:label nl Focal-onset seizure evolving into bilateral convulsive status epilepticus NOT_TRANSLATED +en Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border HP:0033116 IAO:0000115 nl Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border NOT_TRANSLATED +en Folate deficiency in CSF HP:0410209 rdfs:label nl Folate deficiency in CSF NOT_TRANSLATED +en Folate-dependent fragile site at Xq28 HP:0003564 rdfs:label nl Folate-dependent fragile site at Xq28 NOT_TRANSLATED +en Folate-responsive megaloblastic anemia HP:0004851 rdfs:label nl Foliumzuur-responsieve megaloblastaire anemie CANDIDATE +en Folate-unresponsive megaloblastic anemia HP:0004826 rdfs:label nl Foliumzuur-niet-responsieve megaloblastaire anemie CANDIDATE +en Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM HP:0033483 IAO:0000115 nl Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM NOT_TRANSLATED +en Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium) HP:0100016 IAO:0000115 nl Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium) NOT_TRANSLATED +en Folds or ridges within the concha that are distinct from the crus helix HP:0400002 IAO:0000115 nl Folds or ridges within the concha that are distinct from the crus helix NOT_TRANSLATED +en Follicular bronchiolitis HP:0033583 rdfs:label nl Follicular bronchiolitis NOT_TRANSLATED +en Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways HP:0033583 IAO:0000115 nl Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways NOT_TRANSLATED +en Follicular hyperkeratosis HP:0007502 rdfs:label nl Folliculaire hyperkeratose CANDIDATE +en Follicular hyperplasia HP:0002729 rdfs:label nl Folliculaire hyperplasie CANDIDATE +en Follicular infundibulum tumor HP:0031548 rdfs:label nl Tumor van het folliculaire infundibulum CANDIDATE +en Follicular lymphoma HP:0033125 rdfs:label nl Follicular lymphoma NOT_TRANSLATED +en Follicular thyroid carcinoma HP:0006731 rdfs:label nl Folliculair schildklier carcinoom CANDIDATE +en Folliculitis HP:0025084 rdfs:label nl Folliculitis CANDIDATE +en Food allergy HP:0500093 rdfs:label nl Food allergy NOT_TRANSLATED +en Food intolerance HP:0012537 rdfs:label nl Voedselintolerantie CANDIDATE +en Food-induced anaphylaxis HP:0500095 rdfs:label nl Food-induced anaphylaxis NOT_TRANSLATED +en Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food HP:0500095 IAO:0000115 nl Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food NOT_TRANSLATED +en Foot acroosteolysis HP:0001842 rdfs:label nl Progressieve acro-osteolyse van de voet CANDIDATE +en Foot asymmetry HP:0010507 rdfs:label nl Voet asymmetrie CANDIDATE +en Foot dorsiflexor weakness HP:0009027 rdfs:label nl Voet dorsiflexor zwakte CANDIDATE +en Foot joint contracture HP:0008366 rdfs:label nl Contracturen waarbij de gewrichten van de voeten betrokken zijn CANDIDATE +en Foot monodactyly HP:0200054 rdfs:label nl Voet monodactylie CANDIDATE +en Foot oligodactyly HP:0001849 rdfs:label nl Oligodactylie van de voet CANDIDATE +en Foot osteomyelitis HP:0001886 rdfs:label nl Osteomyelitis van de voet CANDIDATE +en Foot pain HP:0025238 rdfs:label nl Voet pijn CANDIDATE +en Foot polydactyly HP:0001829 rdfs:label nl Polydactylie van de voet CANDIDATE +en For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length HP:0011302 IAO:0000115 nl For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length NOT_TRANSLATED +en For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length HP:0001169 IAO:0000115 nl For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length NOT_TRANSLATED +en For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length HP:0004283 IAO:0000115 nl For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length NOT_TRANSLATED +en Foramen ovale aneurysm HP:0025730 rdfs:label nl Foramen ovale aneurysm NOT_TRANSLATED +en Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow HP:0025730 IAO:0000115 nl Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow NOT_TRANSLATED +en Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions HP:0002013 IAO:0000115 nl Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions NOT_TRANSLATED +en Forceps delivery HP:0011411 rdfs:label nl Forceps bevalling CANDIDATE +en Fordyce angiokeratoma HP:0034409 rdfs:label nl Fordyce angiokeratoma NOT_TRANSLATED +en Forearm HP:6000299 rdfs:label nl Onderarm OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Forearm pronation contracture HP:0034395 rdfs:label nl Forearm pronation contracture NOT_TRANSLATED +en Forearm reduction defects HP:0006368 rdfs:label nl Reductiedefecten van onderarm CANDIDATE +en Forearm shortening because of underdevelopment of one or more bones of the forearm HP:0009821 IAO:0000115 nl Forearm shortening because of underdevelopment of one or more bones of the forearm NOT_TRANSLATED +en Forearm supination contracture HP:0034394 rdfs:label nl Forearm supination contracture NOT_TRANSLATED +en Forearm undergrowth HP:0009821 rdfs:label nl Onderarm ondergroei CANDIDATE +en Forehead hyperpigmentation HP:0005336 rdfs:label nl Voorhoofd hyperpigmentatie CANDIDATE +en Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow HP:0005305 IAO:0000115 nl Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow NOT_TRANSLATED +en Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow HP:0004936 IAO:0000115 nl Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow NOT_TRANSLATED +en Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected HP:0002625 IAO:0000115 nl Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected NOT_TRANSLATED +en Formation of abnormal bony tissue within ligament tissue HP:0011989 IAO:0000115 nl Formation of abnormal bony tissue within ligament tissue NOT_TRANSLATED +en Formation of abnormal bony tissue within muscle tissue HP:0011987 IAO:0000115 nl Formation of abnormal bony tissue within muscle tissue NOT_TRANSLATED +en Formation of abnormal bony tissue within tendon tissue HP:0011988 IAO:0000115 nl Formation of abnormal bony tissue within tendon tissue NOT_TRANSLATED +en Formation of abnormal lobules (small masses of tissue) in the liver HP:0100752 IAO:0000115 nl Formation of abnormal lobules (small masses of tissue) in the liver NOT_TRANSLATED +en Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation HP:0034282 IAO:0000115 nl Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation NOT_TRANSLATED +en Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist HP:0011986 IAO:0000115 nl Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist NOT_TRANSLATED +en Formation of an anuclear keratin layer HP:0040162 IAO:0000115 nl Formation of an anuclear keratin layer NOT_TRANSLATED +en Formation of bone in the patella later than normal HP:0006454 IAO:0000115 nl Formation of bone in the patella later than normal NOT_TRANSLATED +en Formation of bone tissue of scaphoid is less than expected for age HP:0004246 IAO:0000115 nl Formation of bone tissue of scaphoid is less than expected for age NOT_TRANSLATED +en Formation of bone tissue of trapezium is less than expected for age HP:0004254 IAO:0000115 nl Formation of bone tissue of trapezium is less than expected for age NOT_TRANSLATED +en Formation of bone tissue of trapezoid is less than expected for age HP:0004257 IAO:0000115 nl Formation of bone tissue of trapezoid is less than expected for age NOT_TRANSLATED +en Formation of calcified tissue in the soft tissues surrounding the shoulder HP:0003837 IAO:0000115 nl Formation of calcified tissue in the soft tissues surrounding the shoulder NOT_TRANSLATED +en Formation of calcium deposits in any soft tissue HP:0003761 IAO:0000115 nl Formation of calcium deposits in any soft tissue NOT_TRANSLATED +en Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis) HP:0025165 IAO:0000115 nl Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis) NOT_TRANSLATED +en Formation of crystals owing to an increased concentration of orotic acid in the urine HP:0003526 IAO:0000115 nl Formation of crystals owing to an increased concentration of orotic acid in the urine NOT_TRANSLATED +en Formation of excess connective tissue in the testicle HP:0012860 IAO:0000115 nl Formation of excess connective tissue in the testicle NOT_TRANSLATED +en Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries HP:0011353 IAO:0000115 nl Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries NOT_TRANSLATED +en Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation HP:0005312 IAO:0000115 nl Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation NOT_TRANSLATED +en Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes HP:0034067 IAO:0000115 nl Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes NOT_TRANSLATED +en Formation of multiple pronuclei during fertilization HP:4000008 rdfs:label nl Formation of multiple pronuclei during fertilization NOT_TRANSLATED +en Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification HP:0025319 IAO:0000115 nl Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification NOT_TRANSLATED +en Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ HP:0032328 IAO:0000115 nl Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ NOT_TRANSLATED +en Formation of the sacrum bone tissue occurs later than age-adjusted norms HP:0025371 IAO:0000115 nl Formation of the sacrum bone tissue occurs later than age-adjusted norms NOT_TRANSLATED +en Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow HP:4000108 IAO:0000115 nl Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow NOT_TRANSLATED +en Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart HP:0033997 IAO:0000115 nl Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart NOT_TRANSLATED +en Forward facing earlobe HP:0011263 rdfs:label nl Forward facing earlobe NOT_TRANSLATED +en Forward prominence of the entire forehead, due to protrusion of the frontal bone HP:0011220 IAO:0000115 nl Forward prominence of the entire forehead, due to protrusion of the frontal bone NOT_TRANSLATED +en Forward protrusion of the glabella HP:0002057 IAO:0000115 nl Voorwaartse protrusie van de glabella CANDIDATE +en Forward slanting upper incisors HP:0025009 rdfs:label nl Voorwaarts schuine bovenste snijtanden CANDIDATE +en Fossa navicularis urethral stricture HP:0025413 rdfs:label nl Fossa navicularis urethrale strictuur CANDIDATE +en Four-vessel umbilical cord HP:0032513 rdfs:label nl Four-vessel umbilical cord NOT_TRANSLATED +en Four-vessel umbilical cord containing two arteries and two veins HP:0032513 IAO:0000115 nl Four-vessel umbilical cord containing two arteries and two veins NOT_TRANSLATED +en Fourth cranial nerve palsy HP:0007011 rdfs:label nl Nervus IV parese CANDIDATE +en Fourth heart sound HP:0031659 rdfs:label nl Vierde harttoon CANDIDATE +en Foveal atrophy HP:0025010 rdfs:label nl Foveale atrofie CANDIDATE +en Foveal degeneration HP:0025146 rdfs:label nl Foveale degeneratie CANDIDATE +en Foveal depigmentation HP:0500088 rdfs:label nl Foveal depigmentation NOT_TRANSLATED +en Foveal hemorrhage HP:0025581 rdfs:label nl Foveale bloeding CANDIDATE +en Foveal hyperpigmentation HP:0008001 rdfs:label nl Foveale hyperpigmentatie CANDIDATE +en Foveal hypopigmentation HP:0012643 rdfs:label nl Foveale hypopigmentatie CANDIDATE +en Foveal hyporeflective spaces on macular OCT HP:0030627 rdfs:label nl Foveale hyporeflectieve ruimtes op macula OCT CANDIDATE +en Foveal inner retinal layer loss on macular OCT HP:0030621 rdfs:label nl Foveale inner retinal laag verlies op macula OCT CANDIDATE +en Foveal intraretinal hyporeflective spaces on macular OCT HP:0030626 rdfs:label nl Foveale intraretinale hyporeflectieve ruimtes op macula OCT CANDIDATE +en Foveal photoreceptor layer loss on macular OCT HP:0030614 rdfs:label nl Foveale fotoreceptor laag verlies op macula OCT CANDIDATE +en Foveal photoreceptor outer segment loss on macular OCT HP:0030615 rdfs:label nl Foveale fotoreceptor buitenste-segment-verlies op macula OCT CANDIDATE +en Foveal retinal pigment epithelial loss on macular OCT HP:0030616 rdfs:label nl Foveaal retina pigment epitheel verlies op macula OCT CANDIDATE +en Foveal subretinal hyporeflective spaces on macular OCT HP:0030628 rdfs:label nl Foveale subretinale hyporeflectieve ruimtes op macula OCT CANDIDATE +en Foveoschisis HP:0012152 rdfs:label nl Foveoschisis CANDIDATE +en Fracture blister HP:0034366 rdfs:label nl Fracture blister NOT_TRANSLATED +en Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn HP:0034366 IAO:0000115 nl Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn NOT_TRANSLATED +en Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias HP:0003908 IAO:0000115 nl Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias NOT_TRANSLATED +en Fracture type HP:4000042 rdfs:label nl Fracture type NOT_TRANSLATED +en Fractured acetabular part of hip bone HP:0041145 rdfs:label nl Fractured acetabular part of hip bone NOT_TRANSLATED +en Fractured ankle HP:0041153 rdfs:label nl Fractured ankle NOT_TRANSLATED +en Fractured bone of jaw HP:0041234 rdfs:label nl Fractured bone of jaw NOT_TRANSLATED +en Fractured calcaneus HP:0041061 rdfs:label nl Fractured calcaneus NOT_TRANSLATED +en Fractured carpal bone HP:0041248 rdfs:label nl Fractured carpal bone NOT_TRANSLATED +en Fractured cervical vertebra HP:0041167 rdfs:label nl Fractured cervical vertebra NOT_TRANSLATED +en Fractured clavicle bone HP:0041144 rdfs:label nl Fractured clavicle bone NOT_TRANSLATED +en Fractured coccyx HP:0041146 rdfs:label nl Fractured coccyx NOT_TRANSLATED +en Fractured cuboid bone HP:0041150 rdfs:label nl Fractured cuboid bone NOT_TRANSLATED +en Fractured distal epiphysis of distal phalanx of manual digit 1 HP:0041216 rdfs:label nl Fractured distal epiphysis of distal phalanx of manual digit 1 NOT_TRANSLATED +en Fractured distal epiphysis of radius HP:0041196 rdfs:label nl Fractured distal epiphysis of radius NOT_TRANSLATED +en Fractured distal phalanx HP:0041218 rdfs:label nl Fractured distal phalanx NOT_TRANSLATED +en Fractured distal phalanx of manual digit 2 HP:0041176 rdfs:label nl Fractured distal phalanx of manual digit 2 NOT_TRANSLATED +en Fractured distal phalanx of manual digit 3 HP:0041177 rdfs:label nl Fractured distal phalanx of manual digit 3 NOT_TRANSLATED +en Fractured distal phalanx of manual digit 4 HP:0041178 rdfs:label nl Fractured distal phalanx of manual digit 4 NOT_TRANSLATED +en Fractured distal phalanx of manual digit 5 HP:0041179 rdfs:label nl Fractured distal phalanx of manual digit 5 NOT_TRANSLATED +en Fractured distal phalanx of manus HP:0041174 rdfs:label nl Fractured distal phalanx of manus NOT_TRANSLATED +en Fractured distal phalanx of pedal digit 1 HP:0041180 rdfs:label nl Fractured distal phalanx of pedal digit 1 NOT_TRANSLATED +en Fractured distal phalanx of pedal digit 3 HP:0041181 rdfs:label nl Fractured distal phalanx of pedal digit 3 NOT_TRANSLATED +en Fractured distal tarsal bone HP:0041226 rdfs:label nl Fractured distal tarsal bone NOT_TRANSLATED +en Fractured distal tarsal bone 2 HP:0041227 rdfs:label nl Fractured distal tarsal bone 2 NOT_TRANSLATED +en Fractured distal tarsal bone 3 HP:0041228 rdfs:label nl Fractured distal tarsal bone 3 NOT_TRANSLATED +en Fractured elbow HP:0041219 rdfs:label nl Fractured elbow NOT_TRANSLATED +en Fractured elbow joint HP:0041154 rdfs:label nl Fractured elbow joint NOT_TRANSLATED +en Fractured epiphysis HP:0041147 rdfs:label nl Fractured epiphysis NOT_TRANSLATED +en Fractured epiphysis of femur HP:0041189 rdfs:label nl Fractured epiphysis of femur NOT_TRANSLATED +en Fractured epiphysis of fifth metacarpal bone HP:0041121 rdfs:label nl Fractured epiphysis of fifth metacarpal bone NOT_TRANSLATED +en Fractured epiphysis of first metatarsal bone HP:0041193 rdfs:label nl Fractured epiphysis of first metatarsal bone NOT_TRANSLATED +en Fractured epiphysis of fourth metacarpal bone HP:0041192 rdfs:label nl Fractured epiphysis of fourth metacarpal bone NOT_TRANSLATED +en Fractured epiphysis of middle phalanx of manus HP:0041209 rdfs:label nl Fractured epiphysis of middle phalanx of manus NOT_TRANSLATED +en Fractured epiphysis of second metacarpal bone HP:0041190 rdfs:label nl Fractured epiphysis of second metacarpal bone NOT_TRANSLATED +en Fractured epiphysis of second metatarsal bone HP:0041194 rdfs:label nl Fractured epiphysis of second metatarsal bone NOT_TRANSLATED +en Fractured epiphysis of third metacarpal bone HP:0041191 rdfs:label nl Fractured epiphysis of third metacarpal bone NOT_TRANSLATED +en Fractured epiphysis of third metatarsal bone HP:0041195 rdfs:label nl Fractured epiphysis of third metatarsal bone NOT_TRANSLATED +en Fractured facial bone HP:0041220 rdfs:label nl Fractured facial bone NOT_TRANSLATED +en Fractured fibula HP:0041222 rdfs:label nl Fractured fibula NOT_TRANSLATED +en Fractured foot bone HP:0041162 rdfs:label nl Fractured foot bone NOT_TRANSLATED +en Fractured forearm bones HP:0003961 rdfs:label nl Gebroken botten van onderarm CANDIDATE +en Fractured fused metatarsal bones 2-4 HP:0041215 rdfs:label nl Fractured fused metatarsal bones 2-4 NOT_TRANSLATED +en Fractured fused sacrum HP:0041172 rdfs:label nl Fractured fused sacrum NOT_TRANSLATED +en Fractured hand bones HP:0004277 rdfs:label nl Gebroken hand botten CANDIDATE +en Fractured head of femur HP:0041221 rdfs:label nl Fractured head of femur NOT_TRANSLATED +en Fractured hindlimb bone HP:0041235 rdfs:label nl Fractured hindlimb bone NOT_TRANSLATED +en Fractured humerus HP:0041055 rdfs:label nl Fractured humerus NOT_TRANSLATED +en Fractured ilium HP:0041233 rdfs:label nl Fractured ilium NOT_TRANSLATED +en Fractured interphalangeal joint HP:0041199 rdfs:label nl Fractured interphalangeal joint NOT_TRANSLATED +en Fractured knee HP:0041064 rdfs:label nl Fractured knee NOT_TRANSLATED +en Fractured larynx HP:0041157 rdfs:label nl Fractured larynx NOT_TRANSLATED +en Fractured lateral malleolus of fibula HP:0041210 rdfs:label nl Fractured lateral malleolus of fibula NOT_TRANSLATED +en Fractured left clavicle HP:0041116 rdfs:label nl Fractured left clavicle NOT_TRANSLATED +en Fractured lower leg HP:0041081 rdfs:label nl Fractured lower leg NOT_TRANSLATED +en Fractured lower limb segment HP:0041117 rdfs:label nl Fractured lower limb segment NOT_TRANSLATED +en Fractured lumbar vertebra HP:0041168 rdfs:label nl Fractured lumbar vertebra NOT_TRANSLATED +en Fractured mandible HP:0041155 rdfs:label nl Fractured mandible NOT_TRANSLATED +en Fractured manual digit HP:0041163 rdfs:label nl Fractured manual digit NOT_TRANSLATED +en Fractured manual digit 1 phalanx HP:0041239 rdfs:label nl Fractured manual digit 1 phalanx NOT_TRANSLATED +en Fractured manual digit bone HP:0041224 rdfs:label nl Fractured manual digit bone NOT_TRANSLATED +en Fractured maxilla HP:0041165 rdfs:label nl Fractured maxilla NOT_TRANSLATED +en Fractured metacarpal bone of digit 1 HP:0041225 rdfs:label nl Fractured metacarpal bone of digit 1 NOT_TRANSLATED +en Fractured metacarpophalangeal joint HP:0041173 rdfs:label nl Fractured metacarpophalangeal joint NOT_TRANSLATED +en Fractured metacarpus skeleton HP:0041119 rdfs:label nl Fractured metacarpus skeleton NOT_TRANSLATED +en Fractured metaphysis of femur HP:0041114 rdfs:label nl Fractured metaphysis of femur NOT_TRANSLATED +en Fractured metatarsal bone of digit 1 HP:0041231 rdfs:label nl Fractured metatarsal bone of digit 1 NOT_TRANSLATED +en Fractured metatarsal bone of digit 4 HP:0041230 rdfs:label nl Fractured metatarsal bone of digit 4 NOT_TRANSLATED +en Fractured metatarsal bone of digit 5 HP:0041223 rdfs:label nl Fractured metatarsal bone of digit 5 NOT_TRANSLATED +en Fractured middle phalanx of manual digit 2 HP:0041182 rdfs:label nl Fractured middle phalanx of manual digit 2 NOT_TRANSLATED +en Fractured middle phalanx of manual digit 3 HP:0041183 rdfs:label nl Fractured middle phalanx of manual digit 3 NOT_TRANSLATED +en Fractured middle phalanx of manual digit 4 HP:0041184 rdfs:label nl Fractured middle phalanx of manual digit 4 NOT_TRANSLATED +en Fractured middle phalanx of manual digit 5 HP:0041185 rdfs:label nl Fractured middle phalanx of manual digit 5 NOT_TRANSLATED +en Fractured middle phalanx of manus HP:0041236 rdfs:label nl Fractured middle phalanx of manus NOT_TRANSLATED +en Fractured middle phalanx of pedal digit 3 HP:0041186 rdfs:label nl Fractured middle phalanx of pedal digit 3 NOT_TRANSLATED +en Fractured middle phalanx of pes HP:0041175 rdfs:label nl Fractured middle phalanx of pes NOT_TRANSLATED +en Fractured navicular bone of pes HP:0041149 rdfs:label nl Fractured navicular bone of pes NOT_TRANSLATED +en Fractured nose HP:0041249 rdfs:label nl Fractured nose NOT_TRANSLATED +en Fractured orbit of skull HP:0041156 rdfs:label nl Fractured orbit of skull NOT_TRANSLATED +en Fractured patella HP:0041237 rdfs:label nl Fractured patella NOT_TRANSLATED +en Fractured phalanx HP:0041083 rdfs:label nl Fractured phalanx NOT_TRANSLATED +en Fractured phalanx of manus HP:0041241 rdfs:label nl Fractured phalanx of manus NOT_TRANSLATED +en Fractured phalanx of pes HP:0041240 rdfs:label nl Fractured phalanx of pes NOT_TRANSLATED +en Fractured proximal epiphysis of first metacarpal bone HP:0041197 rdfs:label nl Fractured proximal epiphysis of first metacarpal bone NOT_TRANSLATED +en Fractured proximal epiphysis of middle phalanx of manual digit 3 HP:0041198 rdfs:label nl Fractured proximal epiphysis of middle phalanx of manual digit 3 NOT_TRANSLATED +en Fractured proximal phalanx of digit 2 HP:0041211 rdfs:label nl Fractured proximal phalanx of digit 2 NOT_TRANSLATED +en Fractured proximal phalanx of digit 3 HP:0041212 rdfs:label nl Fractured proximal phalanx of digit 3 NOT_TRANSLATED +en Fractured proximal phalanx of digit 4 HP:0041213 rdfs:label nl Fractured proximal phalanx of digit 4 NOT_TRANSLATED +en Fractured proximal phalanx of digit 5 HP:0041214 rdfs:label nl Fractured proximal phalanx of digit 5 NOT_TRANSLATED +en Fractured proximal phalanx of manual digit 1 HP:0041188 rdfs:label nl Fractured proximal phalanx of manual digit 1 NOT_TRANSLATED +en Fractured proximal phalanx of manus HP:0041243 rdfs:label nl Fractured proximal phalanx of manus NOT_TRANSLATED +en Fractured proximal phalanx of pedal digit 1 HP:0041187 rdfs:label nl Fractured proximal phalanx of pedal digit 1 NOT_TRANSLATED +en Fractured radius HP:0003978 rdfs:label nl Gebroken radius CANDIDATE +en Fractured rib HP:0041159 rdfs:label nl Fractured rib NOT_TRANSLATED +en Fractured right clavicle HP:0041115 rdfs:label nl Fractured right clavicle NOT_TRANSLATED +en Fractured scapula HP:0041244 rdfs:label nl Fractured scapula NOT_TRANSLATED +en Fractured shoulder HP:0041217 rdfs:label nl Fractured shoulder NOT_TRANSLATED +en Fractured shoulder bone HP:0041245 rdfs:label nl Fractured shoulder bone NOT_TRANSLATED +en Fractured skull HP:0041082 rdfs:label nl Fractured skull NOT_TRANSLATED +en Fractured sternal end of clavicle HP:0041200 rdfs:label nl Fractured sternal end of clavicle NOT_TRANSLATED +en Fractured sternoclavicular joint HP:0041152 rdfs:label nl Fractured sternoclavicular joint NOT_TRANSLATED +en Fractured sternum HP:0041246 rdfs:label nl Fractured sternum NOT_TRANSLATED +en Fractured talus HP:0041164 rdfs:label nl Fractured talus NOT_TRANSLATED +en Fractured tarsal bone HP:0041247 rdfs:label nl Fractured tarsal bone NOT_TRANSLATED +en Fractured thoracic vertebra HP:0041073 rdfs:label nl Fractured thoracic vertebra NOT_TRANSLATED +en Fractured tibia HP:0041143 rdfs:label nl Fractured tibia NOT_TRANSLATED +en Fractured ulna HP:0003987 rdfs:label nl Gebroken ulna CANDIDATE +en Fractured upper limb segment HP:0041118 rdfs:label nl Fractured upper limb segment NOT_TRANSLATED +en Fractured vertebra HP:0041166 rdfs:label nl Fractured vertebra NOT_TRANSLATED +en Fractures of the long bones HP:0003084 rdfs:label nl Fracturen van de lange botten CANDIDATE +en Fragile nails HP:0001808 rdfs:label nl Kwetsbare nagels CANDIDATE +en Fragile skin HP:0001030 rdfs:label nl Kwetsbare huid CANDIDATE +en Fragile teeth HP:0025124 rdfs:label nl Kwetsbare tanden CANDIDATE +en Fragile, easily breakable hair, i.e., with reduced tensile strength HP:0002299 IAO:0000115 nl Fragile, easily breakable hair, i.e., with reduced tensile strength NOT_TRANSLATED +en Fragile, easily breakable scalp hair HP:0004779 IAO:0000115 nl Fragile, easily breakable scalp hair NOT_TRANSLATED +en Fragmentation of the epiphyses of the 2nd finger HP:0009492 rdfs:label nl Fragmentatie van de epifysen van de 2e vinger CANDIDATE +en Fragmentation of the epiphyses of the 2nd toe HP:0100048 rdfs:label nl Fragmentatie van de epifysen van de 2e teen CANDIDATE +en Fragmentation of the epiphyses of the 3rd finger HP:0009414 rdfs:label nl Fragmentatie van de epifysen van de 3e vinger CANDIDATE +en Fragmentation of the epiphyses of the 3rd toe HP:0100059 rdfs:label nl Fragmentatie van de epifysen van de 3e teen CANDIDATE +en Fragmentation of the epiphyses of the 4th finger HP:0009397 rdfs:label nl Fragmentatie van de epifysen van de 4e vinger CANDIDATE +en Fragmentation of the epiphyses of the 4th toe HP:0100070 rdfs:label nl Fragmentatie van de epifysen van de 4e teen CANDIDATE +en Fragmentation of the epiphyses of the 5th finger HP:0009386 rdfs:label nl Fragmentatie van de epifysen van de 5e vinger CANDIDATE +en Fragmentation of the epiphyses of the 5th toe HP:0100081 rdfs:label nl Fragmentatie van de epifysen van de 5e teen CANDIDATE +en Fragmentation of the epiphyses of the distal phalanges of the hand HP:0010250 rdfs:label nl Fragementatie van de epifysen van distale falangen van hand CANDIDATE +en Fragmentation of the epiphyses of the hallux HP:0010117 rdfs:label nl Fragmentatie van de epifysen van de hallux CANDIDATE +en Fragmentation of the epiphyses of the middle phalanges of the hand HP:0010261 rdfs:label nl Fragementatie van de epifysen van middelste falangen van hand CANDIDATE +en Fragmentation of the epiphyses of the phalanges of the hand HP:0010232 rdfs:label nl Fragementatie van de epifysen van falangen van hand CANDIDATE +en Fragmentation of the epiphyses of the proximal phalanges of the hand HP:0010272 rdfs:label nl Fragementatie van de epifysen van proximale falangen van hand CANDIDATE +en Fragmentation of the epiphyses of the toes HP:0010166 rdfs:label nl Fragmentatie van de epifysen van de tenen CANDIDATE +en Fragmentation of the epiphysis of the 1st metacarpal HP:0010019 rdfs:label nl Fragmentatie van de epifyse van de 1e metacarpaal CANDIDATE +en Fragmentation of the epiphysis of the 1st metatarsal HP:0010153 rdfs:label nl Fragmentatie van de epifyse van de 1e metatarsaal CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 2nd finger HP:0009506 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 2e vinger CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 2nd toe HP:0100104 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 2e teen CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 3rd finger HP:0009339 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 3e vinger CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 3rd toe HP:0100139 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 3e teen CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 4th finger HP:0009254 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 4e vinger CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 4th toe HP:0100173 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 4e teen CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 5th finger HP:0009166 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 5e vinger CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the 5th toe HP:0100206 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de 5e teen CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the hallux HP:0010142 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de hallux CANDIDATE +en Fragmentation of the epiphysis of the distal phalanx of the thumb HP:0009679 rdfs:label nl Fragmentatie van de epifyse van de distale falanx van de duim CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 2nd finger HP:0009517 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 2nd toe HP:0100115 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 2e teen CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 3rd finger HP:0009325 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 3rd toe HP:0100150 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 3e teen CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 4th finger HP:0009218 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 4th toe HP:0100184 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 4e teen CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 5th finger HP:0009207 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Fragmentation of the epiphysis of the middle phalanx of the 5th toe HP:0100217 rdfs:label nl Fragmentatie van de epifyse van de middelste falanx van de 5e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger HP:0009528 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 2e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe HP:0100126 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 2e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger HP:0009350 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 3e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe HP:0100161 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 3e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 4th finger HP:0009265 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 4e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 4th toe HP:0100195 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 4e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 5th finger HP:0009202 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 5e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the 5th toe HP:0100228 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de 5e teen CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the hallux HP:0010131 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de hallux CANDIDATE +en Fragmentation of the epiphysis of the proximal phalanx of the thumb HP:0009668 rdfs:label nl Fragmentatie van de epifyse van de proximale falanx van de duim CANDIDATE +en Fragmentation of the metacarpal epiphyses HP:0009189 rdfs:label nl Fragmentatie van de epifysen van de metacarpalen CANDIDATE +en Fragmentation of thumb epiphysis HP:0009690 rdfs:label nl Fragmentatie van de epifyse van de duim CANDIDATE +en Fragmented appearance of the epiphyses HP:0100168 IAO:0000115 nl Fragmented appearance of the epiphyses NOT_TRANSLATED +en Fragmented appearance of the epiphyses of the 2nd finger HP:0009492 IAO:0000115 nl Fragmented appearance of the epiphyses of the 2nd finger NOT_TRANSLATED +en Fragmented appearance of the epiphyses of the 3rd finger HP:0009414 IAO:0000115 nl Fragmented appearance of the epiphyses of the 3rd finger NOT_TRANSLATED +en Fragmented appearance of the epiphyses of the 4th finger HP:0009397 IAO:0000115 nl Fragmented appearance of the epiphyses of the 4th finger NOT_TRANSLATED +en Fragmented appearance of the epiphyses of the 5th finger HP:0009386 IAO:0000115 nl Fragmented appearance of the epiphyses of the 5th finger NOT_TRANSLATED +en Fragmented appearance of the epiphyses of the metacarpals HP:0009189 IAO:0000115 nl Fragmented appearance of the epiphyses of the metacarpals NOT_TRANSLATED +en Fragmented appearance of the epiphyses of the middle phalanges of the hand HP:0010261 IAO:0000115 nl Fragmented appearance of the epiphyses of the middle phalanges of the hand NOT_TRANSLATED +en Fragmented appearance of the epiphyses of the phalanges of the fingers HP:0010232 IAO:0000115 nl Fragmented appearance of the epiphyses of the phalanges of the fingers NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger HP:0009506 IAO:0000115 nl Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger HP:0009339 IAO:0000115 nl Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger HP:0009254 IAO:0000115 nl Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger HP:0009166 IAO:0000115 nl Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger HP:0009325 IAO:0000115 nl Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger HP:0009218 IAO:0000115 nl Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger HP:0009207 IAO:0000115 nl Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger HP:0009350 IAO:0000115 nl Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger HP:0009265 IAO:0000115 nl Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED +en Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger HP:0009202 IAO:0000115 nl Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED +en Fragmented elastic fibers in the dermis HP:0025167 rdfs:label nl Gefragmenteerde elastische vezels in de dermis CANDIDATE +en Fragmented epiphyses HP:0100168 rdfs:label nl Gefragmenteerde epifysen CANDIDATE +en Fragmented epiphyses of the upper limbs HP:0003841 rdfs:label nl Gefragmenteerde epifysen van de bovenste ledematen CANDIDATE +en Fragmented, irregular epiphyses HP:0005063 rdfs:label nl Gefragmenteerde, irregulaire epifysen CANDIDATE +en Frailty HP:0033675 rdfs:label nl Frailty NOT_TRANSLATED +en Frank breech presentation HP:0010859 rdfs:label nl Onvolkomen stuitligging presentatie CANDIDATE +en Frayed humeral metaphyses HP:0003912 rdfs:label nl Versleten metafysen van de humerus CANDIDATE +en Freckled genitalia HP:0030257 rdfs:label nl Sproeterige genitaliën CANDIDATE +en Freckles in sun-exposed areas HP:0007603 rdfs:label nl Sproeten in aan zon blootgestelde gebieden CANDIDATE +en Freckling HP:0001480 rdfs:label nl Sproeten CANDIDATE +en Freezing of gait HP:0031825 rdfs:label nl Freezing of gait NOT_TRANSLATED +en Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk HP:0031825 IAO:0000115 nl Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk NOT_TRANSLATED +en Frequency HP:0040279 rdfs:label nl Frequentie CANDIDATE +en Frequent HP:0040282 rdfs:label nl Frequent CANDIDATE +en Frequent Giardia lamblia infestation HP:0005215 rdfs:label nl Frequente Giardia lamblia besmetting CANDIDATE +en Frequent falls HP:0002359 rdfs:label nl Frequent vallen CANDIDATE +en Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior HP:0000716 IAO:0000115 nl Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior NOT_TRANSLATED +en Frequent menses; menstrual cycles lasting less than 21 days HP:0400007 IAO:0000115 nl Frequent menses; menstrual cycles lasting less than 21 days NOT_TRANSLATED +en Frequent temper tantrums HP:0025161 rdfs:label nl Frequente driftbuien CANDIDATE +en Frequent thinking about or preoccupation with killing oneself HP:0031589 IAO:0000115 nl Frequent thinking about or preoccupation with killing oneself NOT_TRANSLATED +en Frog-leg posture HP:0031139 rdfs:label nl Kikkerhouding CANDIDATE +en Froment sign HP:0032121 rdfs:label nl Froment sign NOT_TRANSLATED +en Frontal balding HP:0002292 rdfs:label nl Frontaal kalend CANDIDATE +en Frontal bossing HP:0002007 rdfs:label nl Frontal bossing CANDIDATE +en Frontal cortical atrophy HP:0006913 rdfs:label nl Frontale corticale atrofie CANDIDATE +en Frontal cutaneous lipoma HP:0007541 rdfs:label nl Frontaal cutaan lipoom CANDIDATE +en Frontal encephalocele HP:0007330 rdfs:label nl Frontale encefalocele CANDIDATE +en Frontal hairline with bilateral arcs to a low point in the midline of the forehead HP:0000349 IAO:0000115 nl Frontal hairline with bilateral arcs to a low point in the midline of the forehead NOT_TRANSLATED +en Frontal hirsutism HP:0011335 rdfs:label nl Frontaal hirsutisme CANDIDATE +en Frontal lobe dementia HP:0000727 rdfs:label nl Frontale kwab dementie CANDIDATE +en Frontal open bite HP:0200094 rdfs:label nl Frontale open beet CANDIDATE +en Frontal polymicrogyria HP:0006821 rdfs:label nl Polymicrogyrie, anterieur naar posterieure gradiënt CANDIDATE +en Frontal release signs HP:0000743 rdfs:label nl Frontale kwab tekenen CANDIDATE +en Frontal schisis (cleft or cleavage) of vertebral bodies HP:0003417 IAO:0000115 nl Frontal schisis (cleft or cleavage) of vertebral bodies NOT_TRANSLATED +en Frontal upsweep of hair HP:0002236 rdfs:label nl Frontale stijging van haar CANDIDATE +en Frontal venous angioma HP:0012482 rdfs:label nl Frontaal veneus angioom CANDIDATE +en Frontalis muscle weakness HP:0004661 rdfs:label nl Zwakte van musculus frontalis CANDIDATE +en Frontoethmoidal meningocele HP:0030729 rdfs:label nl Frontoethmoidal meningocele NOT_TRANSLATED +en Frontolimbic dementia HP:0002439 rdfs:label nl Frontolimbische dementie CANDIDATE +en Frontomalar faciosynostosis HP:0430004 rdfs:label nl Frontomalaire faciosynostose CANDIDATE +en Frontoparietal cortical dysplasia HP:0006930 rdfs:label nl Frontoparietale corticale dysplasie CANDIDATE +en Frontotemporal cerebral atrophy HP:0006892 rdfs:label nl Frontotemporale cerebrale atrofie CANDIDATE +en Frontotemporal dementia HP:0002145 rdfs:label nl Frontotemporale dementie CANDIDATE +en Frontotemporal hypertrichosis HP:0032313 rdfs:label nl Frontotemporal hypertrichosis NOT_TRANSLATED +en Fructose intolerance HP:0005973 rdfs:label nl Fructose intolerantie CANDIDATE +en Full cheeks HP:0000293 rdfs:label nl Volle wangen CANDIDATE +en Full-thickness macular hole HP:0031152 rdfs:label nl Full-thickness macular hole NOT_TRANSLATED +en Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction HP:0031152 IAO:0000115 nl Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction NOT_TRANSLATED +en Fullness of paranasal tissue HP:0012812 rdfs:label nl Volheid van paranasaal weefsel CANDIDATE +en Fully accomodative esotropia HP:0031764 rdfs:label nl Volledig accommodatieve esotropie CANDIDATE +en Fulminant hepatic failure HP:0004448 rdfs:label nl Fulminant chronisch leverfalen CANDIDATE +en Fulminant hepatitis HP:0004787 rdfs:label nl Fulminante hepatitis CANDIDATE +en Functional abnormality of male internal genitalia HP:0000025 rdfs:label nl Functionele afwijking van de mannelijke interne genitaliën CANDIDATE +en Functional abnormality of the bladder HP:0000009 rdfs:label nl Functionele afwijking van de blaas CANDIDATE +en Functional abnormality of the gastrointestinal tract HP:0012719 rdfs:label nl Functionele afwijking van het gastro-instestinale stelsel CANDIDATE +en Functional abnormality of the inner ear HP:0011389 rdfs:label nl Functionele afwijking van het binnenoor CANDIDATE +en Functional abnormality of the middle ear HP:0011452 rdfs:label nl Functionele afwijking van het middenoor CANDIDATE +en Functional anomaly of the kidney persisting for at least three months HP:0012622 IAO:0000115 nl Functional anomaly of the kidney persisting for at least three months NOT_TRANSLATED +en Functional intestinal obstruction HP:0005249 rdfs:label nl Functionele intestinale obstructie CANDIDATE +en Functional motor deficit HP:0004302 rdfs:label nl Functioneel motorisch tekort CANDIDATE +en Functional neurological abnormalities related to dysfunction of the pyramidal tract HP:0007256 IAO:0000115 nl Functional neurological abnormalities related to dysfunction of the pyramidal tract NOT_TRANSLATED +en Fundic gland polyposis HP:0033769 rdfs:label nl Fundic gland polyposis NOT_TRANSLATED +en Fundus albipunctatus HP:0030642 rdfs:label nl Fundus albipunctatus CANDIDATE +en Fundus atrophy HP:0001099 rdfs:label nl Atrofie van de maagwand CANDIDATE +en Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference HP:0030602 IAO:0000115 nl Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference NOT_TRANSLATED +en Fundus hemorrhage HP:0031803 rdfs:label nl Fundus hemorrhage NOT_TRANSLATED +en Fungal hyphae in sputum HP:0034404 rdfs:label nl Fungal hyphae in sputum NOT_TRANSLATED +en Fungal infection characterized by invasion of host tissues HP:0020101 IAO:0000115 nl Fungal infection characterized by invasion of host tissues NOT_TRANSLATED +en Fungal meningitis HP:0032159 rdfs:label nl Fungal meningitis NOT_TRANSLATED +en Fungi allergy HP:0410334 rdfs:label nl Fungi allergy NOT_TRANSLATED +en Funnel detachment from the retina with generally traction in all four quadrants HP:0500056 IAO:0000115 nl Funnel detachment from the retina with generally traction in all four quadrants NOT_TRANSLATED +en Furcate cord insertion HP:0030660 rdfs:label nl Gevorkte navelstreng insertie CANDIDATE +en Furrowed tongue HP:0000221 rdfs:label nl Gegroefde tong CANDIDATE +en Furuncle HP:0020083 rdfs:label nl Furuncle NOT_TRANSLATED +en Fused cervical vertebrae HP:0002949 rdfs:label nl Gefuseerde vervicale wervels CANDIDATE +en Fused labia majora HP:0025486 rdfs:label nl Gefuseerde labia majora CANDIDATE +en Fused labia minora HP:0000063 rdfs:label nl Verkleefde schaamlippen CANDIDATE +en Fused lips HP:0100788 rdfs:label nl Gefuseerde lippen CANDIDATE +en Fused lumbar vertebrae HP:0030040 rdfs:label nl Gefuseerde lumbale wervels CANDIDATE +en Fused nails HP:0011312 rdfs:label nl Gefuseerde nagels CANDIDATE +en Fused sternal ossification centers HP:0006643 rdfs:label nl Gefuseerde centra van sternale ossificatie CANDIDATE +en Fused teeth HP:0011090 rdfs:label nl Gefuseerde tanden CANDIDATE +en Fused thoracic vertebrae HP:0030039 rdfs:label nl Gefuseerde thoracale wervels CANDIDATE +en Fusiform abdominal aortic aneurysm HP:0031644 rdfs:label nl Fusiform abdominaal aorta aneurysma CANDIDATE +en Fusiform aortic arch aneurysm HP:0031646 rdfs:label nl Fusiform aortaboog aneurysma CANDIDATE +en Fusiform ascending tubular aorta aneurysm HP:0031643 rdfs:label nl Fusiform tubulaire aorta ascendens aneurysma CANDIDATE +en Fusiform cerebral aneurysm HP:0031056 rdfs:label nl Fusiform cerebraal aneurysma CANDIDATE +en Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands HP:0031513 IAO:0000115 nl Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands NOT_TRANSLATED +en Fusiform descending thoracic aortic aneurysm HP:0012728 rdfs:label nl Fusiform thoracaal aorta descendens aneurysma CANDIDATE +en Fusion involving carpal and metacarpal bones HP:0100328 IAO:0000115 nl Fusion involving carpal and metacarpal bones NOT_TRANSLATED +en Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx) HP:0009701 IAO:0000115 nl Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx) NOT_TRANSLATED +en Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint HP:0005880 IAO:0000115 nl Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint NOT_TRANSLATED +en Fusion of a middle phalanx of a finger with another bone HP:0009849 IAO:0000115 nl Fusion of a middle phalanx of a finger with another bone NOT_TRANSLATED +en Fusion of a phalanx of the thumb with another bone HP:0009635 IAO:0000115 nl Fusion of a phalanx of the thumb with another bone NOT_TRANSLATED +en Fusion of a tooth with alveolar bone HP:0033791 IAO:0000115 nl Fusion of a tooth with alveolar bone NOT_TRANSLATED +en Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine HP:0004602 IAO:0000115 nl Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine NOT_TRANSLATED +en Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development HP:0030281 IAO:0000115 nl Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development NOT_TRANSLATED +en Fusion of gums HP:0012292 rdfs:label nl Fusie van tandvlees CANDIDATE +en Fusion of midcervical facet joints HP:0004575 rdfs:label nl Fusie van midcervicale facetgewrichten CANDIDATE +en Fusion of middle ear ossicles HP:0005473 rdfs:label nl Fusie van middenoorbeentjes CANDIDATE +en Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009703 IAO:0000115 nl Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Fusion of the C5 and C6 cervical vertebrae HP:0004635 IAO:0000115 nl Fusion of the C5 and C6 cervical vertebrae NOT_TRANSLATED +en Fusion of the caudate and putamen HP:0034180 rdfs:label nl Fusion of the caudate and putamen NOT_TRANSLATED +en Fusion of the cerebellar hemispheres HP:0006899 rdfs:label nl Fusie van de cerebellaire hemisferen CANDIDATE +en Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth HP:0006140 IAO:0000115 nl Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth NOT_TRANSLATED +en Fusion of the interphalangeal joints of the 2nd toe HP:0010353 IAO:0000115 nl Fusion of the interphalangeal joints of the 2nd toe NOT_TRANSLATED +en Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction HP:0000063 IAO:0000115 nl Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction NOT_TRANSLATED +en Fusion of the left and right thalami HP:0010664 rdfs:label nl Fusie van de linker en rechter thalamus CANDIDATE +en Fusion of the liver with the lung HP:0410259 IAO:0000115 nl Fusion of the liver with the lung NOT_TRANSLATED +en Fusion of the middle phalanx of the 2nd finger with another bone HP:0009574 IAO:0000115 nl Fusion of the middle phalanx of the 2nd finger with another bone NOT_TRANSLATED +en Fusion of the middle phalanx of the 3rd finger with another bone HP:0009435 IAO:0000115 nl Fusion of the middle phalanx of the 3rd finger with another bone NOT_TRANSLATED +en Fusion of the middle phalanx of the 4th finger with another bone HP:0009308 IAO:0000115 nl Fusion of the middle phalanx of the 4th finger with another bone NOT_TRANSLATED +en Fusion of the middle phalanx of the 5th finger with another bone HP:0009178 IAO:0000115 nl Fusion of the middle phalanx of the 5th finger with another bone NOT_TRANSLATED +en Fusion of the pancreatic tail and spleen HP:0032075 IAO:0000115 nl Fusion of the pancreatic tail and spleen NOT_TRANSLATED +en Fusion of the proximal and middle phalanges of the 2nd finger HP:0009579 IAO:0000115 nl Fusion of the proximal and middle phalanges of the 2nd finger NOT_TRANSLATED +en Fusion of the proximal and middle phalanges of the 3rd finger HP:0009482 IAO:0000115 nl Fusion of the proximal and middle phalanges of the 3rd finger NOT_TRANSLATED +en Fusion of the proximal and middle phalanges of the 4th finger HP:0009477 IAO:0000115 nl Fusion of the proximal and middle phalanges of the 4th finger NOT_TRANSLATED +en Fusion of the proximal and middle phalanges of the 5th finger HP:0009177 IAO:0000115 nl Fusion of the proximal and middle phalanges of the 5th finger NOT_TRANSLATED +en Fusion of the proximal phalanx of the 2nd finger with another bone HP:0009586 IAO:0000115 nl Fusion of the proximal phalanx of the 2nd finger with another bone NOT_TRANSLATED +en Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal HP:0009598 IAO:0000115 nl Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal NOT_TRANSLATED +en Fusion of the proximal phalanx of the 3rd finger with another bone HP:0009455 IAO:0000115 nl Fusion of the proximal phalanx of the 3rd finger with another bone NOT_TRANSLATED +en Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal HP:0009483 IAO:0000115 nl Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal NOT_TRANSLATED +en Fusion of the proximal phalanx of the 4th finger with another bone HP:0009314 IAO:0000115 nl Fusion of the proximal phalanx of the 4th finger with another bone NOT_TRANSLATED +en Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal HP:0009478 IAO:0000115 nl Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal NOT_TRANSLATED +en Fusion of the proximal phalanx of the 5th finger with another bone HP:0009232 IAO:0000115 nl Fusion of the proximal phalanx of the 5th finger with another bone NOT_TRANSLATED +en Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal HP:0009234 IAO:0000115 nl Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal NOT_TRANSLATED +en Fusion of the proximal phalanx of the thumb with the 1st metacarpal HP:0009640 IAO:0000115 nl Fusion of the proximal phalanx of the thumb with the 1st metacarpal NOT_TRANSLATED +en Fusion of the second metacarpal-trapezoid HP:0004293 IAO:0000115 nl Fusion of the second metacarpal-trapezoid NOT_TRANSLATED +en Fusion of the terminal/distal and middle phalanges of the 2nd finger HP:0009563 IAO:0000115 nl Fusion of the terminal/distal and middle phalanges of the 2nd finger NOT_TRANSLATED +en Fusion of the terminal/distal and middle phalanges of the 3rd finger HP:0009426 IAO:0000115 nl Fusion of the terminal/distal and middle phalanges of the 3rd finger NOT_TRANSLATED +en Fusion of the terminal/distal and middle phalanges of the 4th finger HP:0009305 IAO:0000115 nl Fusion of the terminal/distal and middle phalanges of the 4th finger NOT_TRANSLATED +en Fusion of the terminal/distal and middle phalanges of the 5th finger HP:0009244 IAO:0000115 nl Fusion of the terminal/distal and middle phalanges of the 5th finger NOT_TRANSLATED +en Fusion of two adjacent teeth HP:0011089 IAO:0000115 nl Fusion of two adjacent teeth NOT_TRANSLATED +en Fusion of two or more bones of the 3rd finger HP:0009445 IAO:0000115 nl Fusion of two or more bones of the 3rd finger NOT_TRANSLATED +en Fusion of two or more bones of the 4th finger HP:0004197 IAO:0000115 nl Fusion of two or more bones of the 4th finger NOT_TRANSLATED +en Fusion of two or more bones of the 5th finger HP:0004218 IAO:0000115 nl Fusion of two or more bones of the 5th finger NOT_TRANSLATED +en Fusion of two or more phalangeal bones of the hand HP:0009773 IAO:0000115 nl Fusion of two or more phalangeal bones of the hand NOT_TRANSLATED +en GM1-ganglioside accumulation HP:0020160 rdfs:label nl GM1-ganglioside accumulation NOT_TRANSLATED +en GM2-ganglioside accumulation HP:0003495 rdfs:label nl GM2-ganglioside accumulatie CANDIDATE +en Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect HP:0011790 IAO:0000115 nl Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect NOT_TRANSLATED +en Gait apraxia HP:0010521 rdfs:label nl Gait apraxia NOT_TRANSLATED +en Gait apraxia affecting the ability to make walking movements with the legs HP:0010521 IAO:0000115 nl Gait apraxia affecting the ability to make walking movements with the legs NOT_TRANSLATED +en Gait ataxia HP:0002066 rdfs:label nl Ataxie CANDIDATE +en Gait disturbance HP:0001288 rdfs:label nl Loopstoornis CANDIDATE +en Gait imbalance HP:0002141 rdfs:label nl Gang disbalans CANDIDATE +en Gait instability, worse in the dark HP:0006962 rdfs:label nl Gang instabiliteit, slechter in het donker CANDIDATE +en Galactorrhea HP:0100829 rdfs:label nl Galactorrhea CANDIDATE +en Galactose intolerance HP:0004919 rdfs:label nl Galactose intolerantie CANDIDATE +en Galactosuria HP:0012023 rdfs:label nl Galactosurie CANDIDATE +en Gallbladder dysfunction HP:0005609 rdfs:label nl Galblaas dysfunctie CANDIDATE +en Gallbladder dyskinesia HP:0012442 rdfs:label nl Galblaas dyskinesie CANDIDATE +en Gallbladder enlargement HP:0034506 rdfs:label nl Gallbladder enlargement NOT_TRANSLATED +en Gallbladder mass HP:0034507 rdfs:label nl Gallbladder mass NOT_TRANSLATED +en Gallbladder perforation HP:0030154 rdfs:label nl Galblaas perforatie CANDIDATE +en Gallbladder wall thickening HP:0034505 rdfs:label nl Gallbladder wall thickening NOT_TRANSLATED +en Gallop rhythm HP:0033113 rdfs:label nl Gallop rhythm NOT_TRANSLATED +en Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration HP:0011981 IAO:0000115 nl Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration NOT_TRANSLATED +en Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color HP:0011980 IAO:0000115 nl Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color NOT_TRANSLATED +en Ganglioglioma HP:0033664 rdfs:label nl Ganglioglioma NOT_TRANSLATED +en Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells HP:0033664 IAO:0000115 nl Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells NOT_TRANSLATED +en Ganglioneuroblastoma HP:0006747 rdfs:label nl Ganglioneuroblastoom CANDIDATE +en Ganglioneuroma HP:0003005 rdfs:label nl Ganglioneuroom CANDIDATE +en Ganglioneuromatosis HP:0025151 rdfs:label nl Ganglioneuromatose CANDIDATE +en Ganglioside accumulation HP:0004345 rdfs:label nl Afwijking van het ganglioside metabolisme CANDIDATE +en Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury HP:0034103 IAO:0000115 nl Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury NOT_TRANSLATED +en Gangrene HP:0100758 rdfs:label nl Gangreen CANDIDATE +en Gastric adenocarcinoma HP:0033770 rdfs:label nl Gastric adenocarcinoma NOT_TRANSLATED +en Gastric arteriovenous malformation HP:0031341 rdfs:label nl Gastrische arterioveneuze malformatie CANDIDATE +en Gastric diverticulum HP:0100808 rdfs:label nl Gastrisch divertikel CANDIDATE +en Gastric duplication HP:0011139 rdfs:label nl Maag duplicatie CANDIDATE +en Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach HP:0011139 IAO:0000115 nl Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach NOT_TRANSLATED +en Gastric fluid xenobiotic HP:0500101 rdfs:label nl Gastric fluid xenobiotic NOT_TRANSLATED +en Gastric hypertrophy HP:0005207 rdfs:label nl Maag hypertrofie CANDIDATE +en Gastric leiomyosarcoma HP:0031025 rdfs:label nl Gastrisch leiomyosarcoom CANDIDATE +en Gastric lymphoma HP:0045038 rdfs:label nl Gastrisch lymfoom CANDIDATE +en Gastric pseudomass HP:0034244 rdfs:label nl Gastric pseudomass NOT_TRANSLATED +en Gastric ulcer HP:0002592 rdfs:label nl Ulcus pepticum CANDIDATE +en Gastric varix HP:0030169 rdfs:label nl Gastrische varix CANDIDATE +en Gastric xanthoma HP:0034468 rdfs:label nl Gastric xanthoma NOT_TRANSLATED +en Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids HP:0034468 IAO:0000115 nl Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids NOT_TRANSLATED +en Gastritis HP:0005263 rdfs:label nl Gastritis CANDIDATE +en Gastrocnemius myalgia HP:0031921 rdfs:label nl Gastrocnemius myalgia NOT_TRANSLATED +en Gastroenteritis-related afebrile seizure HP:0032893 rdfs:label nl Gastroenteritis-related afebrile seizure NOT_TRANSLATED +en Gastroesophageal reflux HP:0002020 rdfs:label nl Gastro-oesofageale reflux CANDIDATE +en Gastrointestinal angiodysplasia HP:0000471 rdfs:label nl Gastro-intestinale angiodysplasie CANDIDATE +en Gastrointestinal arteriovenous malformation HP:0002629 rdfs:label nl Gastro-intestinale arterioveneuze malformatie CANDIDATE +en Gastrointestinal atresia HP:0002589 rdfs:label nl Gastro-intestinale atresie CANDIDATE +en Gastrointestinal carcinoma HP:0002672 rdfs:label nl Gastro-intestinaal carcinoom CANDIDATE +en Gastrointestinal duplication HP:0011140 rdfs:label nl Gastro-intestinale duplicatie CANDIDATE +en Gastrointestinal dysmotility HP:0002579 rdfs:label nl Gastro-intestinale dysmotiliteit CANDIDATE +en Gastrointestinal eosinophilia HP:0032064 rdfs:label nl Gastrointestinal eosinophilia NOT_TRANSLATED +en Gastrointestinal hemorrhage HP:0002239 rdfs:label nl Gastro-intestinale bloeding CANDIDATE +en Gastrointestinal infarctions HP:0005244 rdfs:label nl Gastro-intestinale infarcten CANDIDATE +en Gastrointestinal inflammation HP:0004386 rdfs:label nl Gastro-intestinale inflammatie CANDIDATE +en Gastrointestinal obstruction HP:0004796 rdfs:label nl Gastro-intestinale obstructie CANDIDATE +en Gastrointestinal stroma tumor HP:0100723 rdfs:label nl Gastro-intestinale stroma tumor CANDIDATE +en Gastrointestinal telangiectasia HP:0002604 rdfs:label nl Gastro-intestinale telangiëctasieën CANDIDATE +en Gastrointestinal ulcer HP:0034274 rdfs:label nl Gastrointestinal ulcer NOT_TRANSLATED +en Gastrojejunal tube feeding in infancy HP:0030884 rdfs:label nl Gastrojejunal tube feeding in infancy NOT_TRANSLATED +en Gastroparesis HP:0002578 rdfs:label nl Gastroparese CANDIDATE +en Gastroschisis HP:0001543 rdfs:label nl Gastroschisis CANDIDATE +en Gastrostomy tube feeding in infancy HP:0011471 rdfs:label nl Gastrostomie sondevoeding in zuigelingenperiode CANDIDATE +en Gaze avoidance HP:0034436 rdfs:label nl Gaze avoidance NOT_TRANSLATED +en Gaze-evoked horizontal nystagmus HP:0007979 rdfs:label nl Door oogbeweging uitgelokte horizontale nystagmus CANDIDATE +en Gaze-evoked nystagmus HP:0000640 rdfs:label nl Door oogbeweging uitgelokte nystagmus CANDIDATE +en Gemination HP:0011091 rdfs:label nl Geminatie CANDIDATE +en Generalised myoclonic seizure provoked by flashing or flickering light HP:0001327 IAO:0000115 nl Generalised myoclonic seizure provoked by flashing or flickering light NOT_TRANSLATED +en Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light HP:0032855 IAO:0000115 nl Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light NOT_TRANSLATED +en Generalized HP:0012837 rdfs:label nl Gegeneraliseerd CANDIDATE +en Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles HP:0003700 IAO:0000115 nl Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles NOT_TRANSLATED +en Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations HP:0009055 IAO:0000115 nl Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations NOT_TRANSLATED +en Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body HP:0007430 IAO:0000115 nl Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body NOT_TRANSLATED +en Generalized abnormality of skin HP:0011354 rdfs:label nl Gegeneraliseerde afwijking van huid CANDIDATE +en Generalized aminoaciduria HP:0002909 rdfs:label nl Gegeneraliseerde aminoacidurie CANDIDATE +en Generalized amyloid deposition HP:0003216 rdfs:label nl Gegeneraliseerde amyloïde depositie CANDIDATE +en Generalized amyotrophy HP:0003700 rdfs:label nl Gegeneraliseerde amyotrofie CANDIDATE +en Generalized anhidrosis HP:0007459 rdfs:label nl Gegeneraliseerde anhidrose CANDIDATE +en Generalized arterial calcification HP:0004940 rdfs:label nl Gegeneraliseerde arteriële calcificatie CANDIDATE +en Generalized arterial tortuosity HP:0004955 rdfs:label nl Gegeneraliseerde arteriële kronkeligheid CANDIDATE +en Generalized atonic seizure HP:0032887 rdfs:label nl Generalized atonic seizure NOT_TRANSLATED +en Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature HP:0032887 IAO:0000115 nl Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature NOT_TRANSLATED +en Generalized atrophy or hypoplasia of the cerebrum HP:0007058 IAO:0000115 nl Generalized atrophy or hypoplasia of the cerebrum NOT_TRANSLATED +en Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin HP:0034032 IAO:0000115 nl Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin NOT_TRANSLATED +en Generalized bone demineralization HP:0006462 rdfs:label nl Gegeneraliseerde bot demineralisatie CANDIDATE +en Generalized bronze hyperpigmentation HP:0007574 rdfs:label nl Gegeneraliseerde bronzen hyperpigmentatie CANDIDATE +en Generalized cerebral atrophy/hypoplasia HP:0007058 rdfs:label nl Gegeneraliseerde cerebrale atrofie/hypoplasie CANDIDATE +en Generalized clonic seizure HP:0011169 rdfs:label nl Gegeneraliseerde clonische aanvallen CANDIDATE +en Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups HP:0011169 IAO:0000115 nl Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups NOT_TRANSLATED +en Generalized convulsive status epilepticus HP:0032661 rdfs:label nl Generalized convulsive status epilepticus NOT_TRANSLATED +en Generalized degenerative changes of the fat tissue HP:0009064 IAO:0000115 nl Generalized degenerative changes of the fat tissue NOT_TRANSLATED +en Generalized deposition of calcium salts within the brain HP:0005849 IAO:0000115 nl Generalized deposition of calcium salts within the brain NOT_TRANSLATED +en Generalized distal tubular acidosis HP:0004916 rdfs:label nl Gegeneraliseerde distale tubulaire acidose CANDIDATE +en Generalized dystonia HP:0007325 rdfs:label nl Gegeneraliseerde dystonie CANDIDATE +en Generalized edema HP:0007430 rdfs:label nl Gegeneraliseerd oedeem CANDIDATE +en Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0011184 IAO:0000115 nl Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en Generalized epileptiform discharges of different shapes and frequencies HP:0011200 IAO:0000115 nl Generalized epileptiform discharges of different shapes and frequencies NOT_TRANSLATED +en Generalized excessive, abnormal hairiness HP:0004554 IAO:0000115 nl Generalized excessive, abnormal hairiness NOT_TRANSLATED +en Generalized hirsutism HP:0002230 rdfs:label nl Gegeneraliseerde hirsutisme CANDIDATE +en Generalized hyperkeratosis HP:0005595 rdfs:label nl Gegeneraliseerde hyperkeratose CANDIDATE +en Generalized hyperpigmentation HP:0007440 rdfs:label nl Gegeneraliseerde hyperpigmentatie CANDIDATE +en Generalized hyperreflexia HP:0007034 rdfs:label nl Gegeneraliseerde hyperreflexie CANDIDATE +en Generalized hypertrichosis HP:0004554 rdfs:label nl Gegeneraliseerde hypertrichose CANDIDATE +en Generalized hypopigmentation HP:0007513 rdfs:label nl Gegeneraliseerde hypopigmentatie CANDIDATE +en Generalized hypopigmentation of hair HP:0011358 rdfs:label nl Gegeneraliseerde hypopigmentatie van haar CANDIDATE +en Generalized hypoplasia of dental enamel HP:0006282 rdfs:label nl Gegeneraliseerde hypoplasie van het glazuur van de tand CANDIDATE +en Generalized hypotonia HP:0001290 rdfs:label nl Gegeneraliseerde hypotonie CANDIDATE +en Generalized hypotonia due to defect at the neuromuscular junction HP:0003397 rdfs:label nl Gegeneraliseerde hypotonie vanwege een defect van de neuromusculaire overgang CANDIDATE +en Generalized hypotrichosis HP:0004528 rdfs:label nl Gegeneraliseerde hypotrichose CANDIDATE +en Generalized ichthyosis HP:0007503 rdfs:label nl Gegeneraliseerde ichthyosis CANDIDATE +en Generalized joint laxity HP:0002761 rdfs:label nl Gegeneraliseerde gewrichtsmobiliteit CANDIDATE +en Generalized keratosis follicularis HP:0007439 rdfs:label nl Gegeneraliseerde keratosis follicularis CANDIDATE +en Generalized limb muscle atrophy HP:0009055 rdfs:label nl Gegeneraliseerde extremiteit spieratrofie CANDIDATE +en Generalized lipodystrophy HP:0009064 rdfs:label nl Gegeneraliseerde lipodystrofie CANDIDATE +en Generalized lymphadenopathy HP:0008940 rdfs:label nl Gegeneraliseerde lymfadenopathie CANDIDATE +en Generalized microdontia HP:0006311 rdfs:label nl Gegeneraliseerde microdontie CANDIDATE +en Generalized morning stiffness HP:0005197 rdfs:label nl Gegeneraliseerde ochtendstijfheid CANDIDATE +en Generalized muscle hypertrophy HP:0003720 rdfs:label nl Gegeneraliseerde spier hypertrofie CANDIDATE +en Generalized muscle weakness HP:0003324 rdfs:label nl Gegeneraliseerde spierzwakte CANDIDATE +en Generalized muscular appearance from birth HP:0003716 rdfs:label nl Gegeneraliseerd gespierd uiterlijk vanaf de geboorte CANDIDATE +en Generalized muscular hypotonia (abnormally low muscle tone) HP:0001290 IAO:0000115 nl Generalized muscular hypotonia (abnormally low muscle tone) NOT_TRANSLATED +en Generalized myoclonic seizure HP:0002123 rdfs:label nl Gegeneraliseerde myoclonische insulten CANDIDATE +en Generalized myoclonic-atonic seizure HP:0011170 rdfs:label nl Myoclonische atonische aanvallen CANDIDATE +en Generalized myoclonic-tonic-clonic seizure HP:0032795 rdfs:label nl Generalized myoclonic-tonic-clonic seizure NOT_TRANSLATED +en Generalized neonatal hypotonia HP:0008935 rdfs:label nl Gegeneraliseerde neonatale hypotonie CANDIDATE +en Generalized non-convulsive status epilepticus without coma HP:0032860 rdfs:label nl Generalized non-convulsive status epilepticus without coma NOT_TRANSLATED +en Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure HP:0032860 IAO:0000115 nl Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure NOT_TRANSLATED +en Generalized non-motor (absence) seizure HP:0002121 rdfs:label nl Absences CANDIDATE +en Generalized opacification of the cornea HP:0011494 rdfs:label nl Gegeneraliseerde opacificatie van de cornea CANDIDATE +en Generalized osteoporosis HP:0040160 rdfs:label nl Gegeneraliseerde osteoporose CANDIDATE +en Generalized osteosclerosis HP:0005789 rdfs:label nl Gegeneraliseerde osteosclerose CANDIDATE +en Generalized papillary lesions HP:0007482 rdfs:label nl Gegeneraliseerde papillaire laesies CANDIDATE +en Generalized periodontitis HP:0011058 rdfs:label nl Gegeneraliseerde parodontitis CANDIDATE +en Generalized reduced transparency of the stroma of the cornea HP:0011494 IAO:0000115 nl Generalized reduced transparency of the stroma of the cornea NOT_TRANSLATED +en Generalized reticulate brown pigmentation HP:0007599 rdfs:label nl Gegeneraliseerde, reticulaire bruine huidpigmentatie CANDIDATE +en Generalized seborrheic dermatitis HP:0007569 rdfs:label nl Gegeneraliseerde seborroïsche dermatitis CANDIDATE +en Generalized slowing of EEG activity at frequencies between 0.5-3 Hz HP:0011208 IAO:0000115 nl Generalized slowing of EEG activity at frequencies between 0.5-3 Hz NOT_TRANSLATED +en Generalized slowing of EEG activity at frequencies between 4-7 Hz HP:0011207 IAO:0000115 nl Generalized slowing of EEG activity at frequencies between 4-7 Hz NOT_TRANSLATED +en Generalized tonic seizure HP:0010818 rdfs:label nl Gegeneraliseerde tonische aanvallen CANDIDATE +en Generalized weakness of limb muscles HP:0009028 rdfs:label nl Gegeneraliseerde zwakte van de spieren van de ledematen CANDIDATE +en Generalized weakness of the muscles of the arms and legs HP:0009028 IAO:0000115 nl Generalized weakness of the muscles of the arms and legs NOT_TRANSLATED +en Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature HP:0003324 IAO:0000115 nl Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature NOT_TRANSLATED +en Generalized-onset epileptic spasm HP:0032842 rdfs:label nl Generalized-onset epileptic spasm NOT_TRANSLATED +en Generalized-onset motor seizure HP:0032677 rdfs:label nl Generalized-onset motor seizure NOT_TRANSLATED +en Generalized-onset seizure HP:0002197 rdfs:label nl Gegeneraliseerde insulten CANDIDATE +en Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light HP:0007207 IAO:0000115 nl Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light NOT_TRANSLATED +en Genetic anticipation HP:0003743 rdfs:label nl Genetische anticipatie CANDIDATE +en Genetic anticipation with paternal anticipation bias HP:0003744 rdfs:label nl Genetische anticipatie met paternale anticipatie bias CANDIDATE +en Genital blistering HP:0031464 rdfs:label nl Genitale blaarvorming CANDIDATE +en Genital edema HP:0031188 rdfs:label nl Genitaal oedeem CANDIDATE +en Genital hernia HP:0100823 rdfs:label nl Genitale hernia CANDIDATE +en Genital neoplasm HP:0010787 rdfs:label nl Genitaal neoplasma CANDIDATE +en Genital tract atresia HP:0001827 rdfs:label nl Atresie van de genitale tractus CANDIDATE +en Genital ulcers HP:0003249 rdfs:label nl Genitale ulcers CANDIDATE +en Genital warts HP:0032301 rdfs:label nl Genital warts NOT_TRANSLATED +en Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures HP:0010806 IAO:0000115 nl Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures NOT_TRANSLATED +en Genu recurvatum HP:0002816 rdfs:label nl Genu recurvatum CANDIDATE +en Genu valgum HP:0002857 rdfs:label nl Genu valgum CANDIDATE +en Genu varum HP:0002970 rdfs:label nl Genu varum CANDIDATE +en Geographic atrophy HP:0031609 rdfs:label nl Geografische atrofie CANDIDATE +en Geographic tongue HP:0025252 rdfs:label nl Geografische tong CANDIDATE +en Geophagia HP:0025062 rdfs:label nl Geofagie CANDIDATE +en Gerbode ventricular septal defect HP:0011621 rdfs:label nl Gerbode ventrikelseptumdefect CANDIDATE +en Germ cell neoplasia HP:0100728 rdfs:label nl Kiemcel neoplasie CANDIDATE +en Germinoma HP:0100620 rdfs:label nl Germinoom CANDIDATE +en Giant cell granuloma of mandible HP:0100955 rdfs:label nl Reusceltumor van de kaak CANDIDATE +en Giant cell hepatitis HP:0200084 rdfs:label nl Reuze cel hepatitis CANDIDATE +en Giant cell tumor of bone HP:0011847 rdfs:label nl Reusceltumor van bot CANDIDATE +en Giant conjunctival papillae HP:0025350 rdfs:label nl Giant papillary conjunctivitis CANDIDATE +en Giant hypertrophic gastritis HP:0005246 rdfs:label nl Giant hypertrofische gastritis CANDIDATE +en Giant melanosomes in melanocytes HP:0005592 rdfs:label nl Gigantische melanosomen in melanocyten CANDIDATE +en Giant neutrophil granules HP:0032499 rdfs:label nl Giant neutrophil granules NOT_TRANSLATED +en Giant platelets HP:0001902 rdfs:label nl Reuze bloedplaatjes CANDIDATE +en Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998) HP:0001902 IAO:0000115 nl Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998) NOT_TRANSLATED +en Giant somatosensory evoked potentials HP:0001312 rdfs:label nl Reuze somatosensorische opgewekte potentialen CANDIDATE +en Gingival bleeding HP:0000225 rdfs:label nl Tandvleesbloeding CANDIDATE +en Gingival calcification HP:0025141 rdfs:label nl Gingivale calcificatie CANDIDATE +en Gingival cleft HP:0030690 rdfs:label nl Gingivale schisis CANDIDATE +en Gingival fibromatosis HP:0000169 rdfs:label nl Gingivale fibromatose CANDIDATE +en Gingival fragility HP:0034518 rdfs:label nl Gingival fragility NOT_TRANSLATED +en Gingival hyperkeratosis HP:0000222 rdfs:label nl Gingivale hyperkeratose CANDIDATE +en Gingival overgrowth HP:0000212 rdfs:label nl Overtollig tandvlees CANDIDATE +en Gingival recession HP:0030816 rdfs:label nl Gingivale recessie CANDIDATE +en Gingivitis HP:0000230 rdfs:label nl Gingivitis CANDIDATE +en Glabellar hemangioma HP:0001076 rdfs:label nl Hemangioom tussen de ogen CANDIDATE +en Glabellar reflex HP:0030904 rdfs:label nl Glabellaire reflex CANDIDATE +en Glandular cell neoplasm HP:0031493 rdfs:label nl Glandular cell neoplasm NOT_TRANSLATED +en Glandular hypospadias HP:0000807 rdfs:label nl Klierweefsel hypospadie CANDIDATE +en Glaucoma HP:0000501 rdfs:label nl Glaucoom CANDIDATE +en Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure HP:0000501 IAO:0000115 nl Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure NOT_TRANSLATED +en Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma HP:0001087 IAO:0000115 nl Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma NOT_TRANSLATED +en Glaucomatous visual field defect HP:0007854 rdfs:label nl Glaucomateus gezichtsvelddefect CANDIDATE +en Glenoid fossa hypoplasia HP:0006633 rdfs:label nl Glenoïd fossa hypoplasie CANDIDATE +en Glenoid fracture HP:0034500 rdfs:label nl Glenoid fracture NOT_TRANSLATED +en Glial remnants anterior to the optic disc HP:0030743 rdfs:label nl Gliale restanten anterieur van de optische schijf CANDIDATE +en Glial remnants posterior to lens HP:0030742 rdfs:label nl Gliale restanten posterieur aan lens CANDIDATE +en Glioblastoma multiforme HP:0012174 rdfs:label nl Glioblastoma multiforme CANDIDATE +en Glioma HP:0009733 rdfs:label nl Glioom CANDIDATE +en Gliosis HP:0002171 rdfs:label nl Gliose CANDIDATE +en Gliosis is the focal proliferation of glial cells in the central nervous system HP:0002171 IAO:0000115 nl Gliosis is the focal proliferation of glial cells in the central nervous system NOT_TRANSLATED +en Global brain atrophy HP:0002283 rdfs:label nl Globale brein atrofie CANDIDATE +en Global cerebellar dysplasia HP:0033744 rdfs:label nl Global cerebellar dysplasia NOT_TRANSLATED +en Global developmental delay HP:0001263 rdfs:label nl Globale vertraging in de ontwikkeling CANDIDATE +en Global distention of glomerular capillaries with intraluminal intact red blood cells HP:0033270 IAO:0000115 nl Global distention of glomerular capillaries with intraluminal intact red blood cells NOT_TRANSLATED +en Global glomerulosclerosis HP:0004737 rdfs:label nl Globale glomerulosclerose CANDIDATE +en Global mesangial sclerosis HP:0033491 rdfs:label nl Global mesangial sclerosis NOT_TRANSLATED +en Global proximal tubulopathy HP:0012573 rdfs:label nl Globale proximale tubulopathie CANDIDATE +en Global systolic dysfunction HP:0005185 rdfs:label nl Globale systolische dysfunctie CANDIDATE +en Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium HP:0033321 IAO:0000115 nl Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium NOT_TRANSLATED +en Globe retraction and deviation on abduction HP:0000497 rdfs:label nl Oog retractie en afwijking van abductie CANDIDATE +en Globozoospermia HP:0012205 rdfs:label nl Globozoospermie CANDIDATE +en Globus pallidus calcification HP:0031627 rdfs:label nl Globus pallidus calcificatie CANDIDATE +en Globus pallidus hypointensity on susceptibility-weighted imaging HP:0033049 rdfs:label nl Globus pallidus hypointensity on susceptibility-weighted imaging NOT_TRANSLATED +en Glomerular C3 deposition HP:0012576 rdfs:label nl Glomerulaire C3 depositie CANDIDATE +en Glomerular amyloid subepithelial deposits HP:0033599 rdfs:label nl Glomerular amyloid subepithelial deposits NOT_TRANSLATED +en Glomerular basement membrane amyloid spicule HP:0033494 rdfs:label nl Glomerular basement membrane amyloid spicule NOT_TRANSLATED +en Glomerular basement membrane disruption HP:0033485 rdfs:label nl Glomerular basement membrane disruption NOT_TRANSLATED +en Glomerular basement membrane electron dense deposits HP:0033499 rdfs:label nl Glomerular basement membrane electron dense deposits NOT_TRANSLATED +en Glomerular basement membrane lamellation HP:0030034 rdfs:label nl Diffuse glomerulaire basaalmembraan lamellatie CANDIDATE +en Glomerular basement membrane lucencies HP:0033287 rdfs:label nl Glomerular basement membrane lucencies NOT_TRANSLATED +en Glomerular basement membrane spikes HP:0033288 rdfs:label nl Glomerular basement membrane spikes NOT_TRANSLATED +en Glomerular basement membrane wrinkling HP:0033289 rdfs:label nl Glomerular basement membrane wrinkling NOT_TRANSLATED +en Glomerular basement membranes powdery deposit HP:0033487 rdfs:label nl Glomerular basement membranes powdery deposit NOT_TRANSLATED +en Glomerular capillary collapse HP:0033269 rdfs:label nl Glomerular capillary collapse NOT_TRANSLATED +en Glomerular capillary congestion HP:0033270 rdfs:label nl Glomerular capillary congestion NOT_TRANSLATED +en Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis HP:0033271 IAO:0000115 nl Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis NOT_TRANSLATED +en Glomerular capillary microaneurysm HP:0033271 rdfs:label nl Glomerular capillary microaneurysm NOT_TRANSLATED +en Glomerular capillary wall duplication with cellular interposition HP:0033323 rdfs:label nl Glomerular capillary wall duplication with cellular interposition NOT_TRANSLATED +en Glomerular capillary wall duplication without cellular interposition HP:0033322 rdfs:label nl Glomerular capillary wall duplication without cellular interposition NOT_TRANSLATED +en Glomerular capillary wire loop deposits HP:0033604 rdfs:label nl Glomerular capillary wire loop deposits NOT_TRANSLATED +en Glomerular crescent formation HP:0033316 rdfs:label nl Glomerular crescent formation NOT_TRANSLATED +en Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin HP:0033316 IAO:0000115 nl Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin NOT_TRANSLATED +en Glomerular deposits HP:0030949 rdfs:label nl Glomerulaire deposities CANDIDATE +en Glomerular endocapillary foam-cell hypercellularity HP:0033490 rdfs:label nl Glomerular endocapillary foam-cell hypercellularity NOT_TRANSLATED +en Glomerular endocapillary hypercellularity HP:0025363 rdfs:label nl Endocapillaire hypercellulariteit CANDIDATE +en Glomerular endocapillary leukocyte hypercellularity HP:0033488 rdfs:label nl Glomerular endocapillary leukocyte hypercellularity NOT_TRANSLATED +en Glomerular endocapillary neutrophil hypercellularity HP:0033489 rdfs:label nl Glomerular endocapillary neutrophil hypercellularity NOT_TRANSLATED +en Glomerular endothelial tubuloreticular inclusion HP:0033275 rdfs:label nl Glomerular endothelial tubuloreticular inclusion NOT_TRANSLATED +en Glomerular endotheliosis HP:0033274 rdfs:label nl Glomerular endotheliosis NOT_TRANSLATED +en Glomerular extracapillary fibrin HP:0033396 rdfs:label nl Glomerular extracapillary fibrin NOT_TRANSLATED +en Glomerular extracapillary hypercellularity HP:0025364 rdfs:label nl Extracapillaire hypercellulariteit CANDIDATE +en Glomerular fibrin thrombus HP:0033292 rdfs:label nl Glomerular fibrin thrombus NOT_TRANSLATED +en Glomerular fibrinoid necrosis HP:0033277 rdfs:label nl Glomerular fibrinoid necrosis NOT_TRANSLATED +en Glomerular hyaline pseudothrombus HP:0033293 rdfs:label nl Glomerular hyaline pseudothrombus NOT_TRANSLATED +en Glomerular hyaline subepithelial deposits HP:0033602 rdfs:label nl Glomerular hyaline subepithelial deposits NOT_TRANSLATED +en Glomerular hyalinosis HP:0033216 rdfs:label nl Glomerular hyalinosis NOT_TRANSLATED +en Glomerular hyalinosis at the tubular pole HP:0033218 rdfs:label nl Glomerular hyalinosis at the tubular pole NOT_TRANSLATED +en Glomerular hyalinosis away from the vascular and tubular poles HP:0033219 rdfs:label nl Glomerular hyalinosis away from the vascular and tubular poles NOT_TRANSLATED +en Glomerular karyhorrhectic debris HP:0033291 rdfs:label nl Glomerular karyhorrhectic debris NOT_TRANSLATED +en Glomerular lipoprotein thrombus HP:0033294 rdfs:label nl Glomerular lipoprotein thrombus NOT_TRANSLATED +en Glomerular obsolescence HP:0033321 rdfs:label nl Glomerular obsolescence NOT_TRANSLATED +en Glomerular parietal epithelial cell hyperplasia HP:0033224 rdfs:label nl Glomerular parietal epithelial cell hyperplasia NOT_TRANSLATED +en Glomerular parietal epithelial cell hypertrophy HP:0033225 rdfs:label nl Glomerular parietal epithelial cell hypertrophy NOT_TRANSLATED +en Glomerular proteinuria HP:4000058 rdfs:label nl Glomerular proteinuria NOT_TRANSLATED +en Glomerular pseudocrescent HP:0033266 rdfs:label nl Glomerular pseudocrescent NOT_TRANSLATED +en Glomerular sclerosis HP:0000096 rdfs:label nl Glomerulosclerosis CANDIDATE +en Glomerular subendothelial electron-dense deposits HP:0004746 rdfs:label nl Glomerulaire subendotheliale elektronen-dichte deposities CANDIDATE +en Glomerular subendothelial widening HP:0033290 rdfs:label nl Glomerular subendothelial widening NOT_TRANSLATED +en Glomerular subepithelial deposits HP:0033603 rdfs:label nl Glomerular subepithelial deposits NOT_TRANSLATED +en Glomerular subepithelial immune-complex deposits HP:0033601 rdfs:label nl Glomerular subepithelial immune-complex deposits NOT_TRANSLATED +en Glomerular synechial adhesion HP:0033227 rdfs:label nl Glomerular synechial adhesion NOT_TRANSLATED +en Glomeruloid hemangioma HP:0031357 rdfs:label nl Glomeruloïd hemangioom CANDIDATE +en Glomerulomegaly HP:0030162 rdfs:label nl Glomerulomegalie CANDIDATE +en Glomerulonephritis HP:0000099 rdfs:label nl Glomerulonefritis CANDIDATE +en Glomerulopathy HP:0100820 rdfs:label nl Glomerulopathie CANDIDATE +en Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop HP:0033604 IAO:0000115 nl Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop NOT_TRANSLATED +en Glomus jugular tumor HP:0003001 rdfs:label nl Glomus jugulare tumor CANDIDATE +en Glomus tympanicum paraganglioma HP:0006715 rdfs:label nl Glomus tympanicum paragangliomen CANDIDATE +en Glossitis HP:0000206 rdfs:label nl Glossitis CANDIDATE +en Glossoptosis HP:0000162 rdfs:label nl Glossoptosis CANDIDATE +en Glossy appearance of the entire tongue surface HP:0010298 IAO:0000115 nl Glossy appearance of the entire tongue surface NOT_TRANSLATED +en Glucagonoma HP:0030404 rdfs:label nl Glucagonoom CANDIDATE +en Glucocortocoid-insensitive primary hyperaldosteronism HP:0011740 rdfs:label nl Glucocortocoïd-ongevoelig primair hyperaldosteronisme CANDIDATE +en Glucose intolerance HP:0001952 rdfs:label nl Gestoorde glucose tolerantie CANDIDATE +en Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM) HP:0001952 IAO:0000115 nl Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM) NOT_TRANSLATED +en Glue ear HP:0040262 rdfs:label nl Lijmoor CANDIDATE +en Glutaric aciduria HP:0003150 rdfs:label nl Glutaaracidurie CANDIDATE +en Gluten allergy HP:0410329 rdfs:label nl Gluten allergy NOT_TRANSLATED +en Gluten intolerance HP:0012538 rdfs:label nl Glutenintolerantie CANDIDATE +en Glycogen accumulation in muscle fiber lysosomes HP:0030231 rdfs:label nl Glycogeen accumulatie in spiervezel lysosomen CANDIDATE +en Glycogen accumulation in pulmonary interstitial cells HP:0033244 rdfs:label nl Glycogen accumulation in pulmonary interstitial cells NOT_TRANSLATED +en Glycopeptiduria HP:0012067 rdfs:label nl Glycopeptidurie CANDIDATE +en Glycosuria HP:0003076 rdfs:label nl Glucosurie CANDIDATE +en Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded HP:0003160 IAO:0000115 nl Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded NOT_TRANSLATED +en Glyoxalase deficiency HP:0003258 rdfs:label nl Glyoxalase tekort CANDIDATE +en Goiter HP:0000853 rdfs:label nl Struma CANDIDATE +en Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea HP:0500008 IAO:0000115 nl Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea NOT_TRANSLATED +en Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals HP:0025583 IAO:0000115 nl Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals NOT_TRANSLATED +en Gonadal calcification HP:0008703 rdfs:label nl Gonadale calcificatie CANDIDATE +en Gonadal dysgenesis HP:0000133 rdfs:label nl Gonadale dysgenesie CANDIDATE +en Gonadal dysgenesis with female appearance, male HP:0008723 rdfs:label nl Gonadale dysgenesie met vrouwelijk uiterlijk, mannelijk CANDIDATE +en Gonadal dysgenesis, male HP:0008668 rdfs:label nl Gonadale dysgenesie, mannelijk CANDIDATE +en Gonadal hypoplasia HP:0008639 rdfs:label nl Gonadale hypoplasie CANDIDATE +en Gonadal neoplasm HP:0010785 rdfs:label nl Gonadaal neoplasma CANDIDATE +en Gonadal tissue inappropriate for external genitalia or chromosomal sex HP:0003248 rdfs:label nl Gonadaal weefsel niet passend bij externe genitaliën of chromosomaal geslacht CANDIDATE +en Gonadoblastoma HP:0000150 rdfs:label nl Gonadoblastoma CANDIDATE +en Gonadotropin deficiency HP:0008213 rdfs:label nl Gonadotrofine deficiëntie CANDIDATE +en Gordon reflex HP:0030181 rdfs:label nl Reflex van Gordon CANDIDATE +en Gottron's papules HP:0025508 rdfs:label nl Gottronse papels CANDIDATE +en Gout HP:0001997 rdfs:label nl Jicht CANDIDATE +en Gout affecting the Metatarsophalangeal joint of big toe HP:0001854 IAO:0000115 nl Gout affecting the Metatarsophalangeal joint of big toe NOT_TRANSLATED +en Gowers sign HP:0003391 rdfs:label nl Teken van Gowers CANDIDATE +en Grade I preterm intraventricular hemorrhage HP:0030748 rdfs:label nl Graad 1 premature intraventriculaire bloeding CANDIDATE +en Grade I vesicoureteral reflux HP:0033735 rdfs:label nl Grade I vesicoureteral reflux NOT_TRANSLATED +en Grade II preterm intraventricular hemorrhage HP:0030749 rdfs:label nl Graad 2 premature intraventriculaire bloeding CANDIDATE +en Grade II vesicoureteral reflux HP:0033736 rdfs:label nl Grade II vesicoureteral reflux NOT_TRANSLATED +en Grade III preterm intraventricular hemorrhage HP:0030750 rdfs:label nl Graad 3 premature intraventriculaire bloeding CANDIDATE +en Grade III vesicoureteral reflux HP:0033737 rdfs:label nl Grade III vesicoureteral reflux NOT_TRANSLATED +en Grade IV preterm intraventricular hemorrhage HP:0030751 rdfs:label nl Graad 4 premature intraventriculaire bloeding CANDIDATE +en Grade IV vesicoureteral reflux HP:0033741 rdfs:label nl Grade IV vesicoureteral reflux NOT_TRANSLATED +en Grade V vesicoureteral reflux HP:0033740 rdfs:label nl Grade V vesicoureteral reflux NOT_TRANSLATED +en Gradual, very slow onset of disease manifestations HP:0003587 IAO:0000115 nl Gradual, very slow onset of disease manifestations NOT_TRANSLATED +en Grammar-specific speech disorder HP:0006977 rdfs:label nl Grammatica-specifieke spraak aandoening CANDIDATE +en Granular casts HP:0031201 rdfs:label nl Granulaire cilinders CANDIDATE +en Granular corneal dystrophy HP:0007802 rdfs:label nl Granulaire cornea dystrofie CANDIDATE +en Granular macular appearance HP:0007793 rdfs:label nl Granulaire macula verschijning CANDIDATE +en Granular osmiophilic deposits (GROD) in cells HP:0003657 rdfs:label nl Granular osmiophilic deposits (GROD) in cellen CANDIDATE +en Granulocytic hyperplasia HP:0012138 rdfs:label nl Granulocytische hyperplasie CANDIDATE +en Granulocytic hypoplasia HP:0012139 rdfs:label nl Granulocytische hypoplasie CANDIDATE +en Granulocytopenia HP:0001913 rdfs:label nl Granulocytopenie CANDIDATE +en Granulocytosis HP:0032310 rdfs:label nl Granulocytosis NOT_TRANSLATED +en Granuloma HP:0032252 rdfs:label nl Granuloma NOT_TRANSLATED +en Granulomatosis HP:0002955 rdfs:label nl Granulomatose CANDIDATE +en Granulomatous arteriolitis of the arteriolar intima/media HP:0033941 rdfs:label nl Granulomatous arteriolitis of the arteriolar intima/media NOT_TRANSLATED +en Granulomatous cholangitis HP:0030988 rdfs:label nl Granulomateuze cholangitis CANDIDATE +en Granulomatous coronary arteritis HP:0006679 rdfs:label nl Granulomateuze coronaire arteritis CANDIDATE +en Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen HP:0033371 IAO:0000115 nl Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen NOT_TRANSLATED +en Granulovacuolar degeneration HP:0002528 rdfs:label nl Granulovacuolaire degeneratie CANDIDATE +en Grasp reflex HP:0030903 rdfs:label nl Grijpreflex CANDIDATE +en Graves disease HP:0100647 rdfs:label nl Ziekte van Graves CANDIDATE +en Gray matter heterotopia HP:0002282 rdfs:label nl Heterotopie CANDIDATE +en Grayish enamel HP:0000683 rdfs:label nl Grijsachtig glazuur CANDIDATE +en Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin HP:0032935 IAO:0000115 nl Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin NOT_TRANSLATED +en Greater auricular nerve thickening HP:0034347 rdfs:label nl Greater auricular nerve thickening NOT_TRANSLATED +en Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones HP:0000336 IAO:0000115 nl Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones NOT_TRANSLATED +en Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen HP:0034361 IAO:0000115 nl Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen NOT_TRANSLATED +en Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats HP:0002570 IAO:0000115 nl Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats NOT_TRANSLATED +en Green teeth HP:0011075 rdfs:label nl Groene tanden CANDIDATE +en Green urine HP:0032003 rdfs:label nl Green urine NOT_TRANSLATED +en Greenstick fracture HP:4000043 rdfs:label nl Greenstick fracture NOT_TRANSLATED +en Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea HP:0200032 IAO:0000115 nl Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea NOT_TRANSLATED +en Groin pain HP:0031520 rdfs:label nl Liespijn CANDIDATE +en Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities HP:0025719 IAO:0000115 nl Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities NOT_TRANSLATED +en Ground glass opacity of humeral diaphysis HP:0003929 rdfs:label nl Ground glass opacity of humeral diaphysis NOT_TRANSLATED +en Ground-glass opacification HP:0025179 rdfs:label nl Ground-glass opacification NOT_TRANSLATED +en Grouped congenital hypertrophy of retinal pigment epithelium HP:0030504 rdfs:label nl Gegroepeerde congenitale hypertrofie van retina pigment epitheel CANDIDATE +en Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration HP:0007233 IAO:0000115 nl Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration NOT_TRANSLATED +en Growth abnormality HP:0001507 rdfs:label nl Abnormale groei CANDIDATE +en Growth arrest lines HP:0031164 rdfs:label nl Growth arrest lines NOT_TRANSLATED +en Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone HP:0031164 IAO:0000115 nl Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone NOT_TRANSLATED +en Growth delay HP:0001510 rdfs:label nl Vertraging van de groei CANDIDATE +en Growth without growth hormone HP:0033795 rdfs:label nl Growth without growth hormone NOT_TRANSLATED +en Gums that are easily damaged HP:0034518 IAO:0000115 nl Gums that are easily damaged NOT_TRANSLATED +en Gustatory lacrimation HP:0100274 rdfs:label nl Traanproductie bij smaak CANDIDATE +en Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal HP:0100274 IAO:0000115 nl Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal NOT_TRANSLATED +en Gustatory sweating HP:0025277 rdfs:label nl Zweten bij smaak CANDIDATE +en Gynecomastia HP:0000771 rdfs:label nl Gynaecomastie CANDIDATE +en H-shaped crease in the fat pad of the chin HP:0011824 IAO:0000115 nl H-shaped crease in the fat pad of the chin NOT_TRANSLATED +en H-type rectovestibular fistula HP:0025026 rdfs:label nl H-type rectovestibulaire fistel CANDIDATE +en Habitual biting of one's own body HP:0012169 IAO:0000115 nl Habitual biting of one's own body NOT_TRANSLATED +en Habitual biting of one's own fingernails HP:0012170 IAO:0000115 nl Habitual biting of one's own fingernails NOT_TRANSLATED +en Habitual clasping and squeezing of the hands HP:0012171 IAO:0000115 nl Habitual clasping and squeezing of the hands NOT_TRANSLATED +en Habitual flow of saliva out of the mouth HP:0002307 IAO:0000115 nl Habitual flow of saliva out of the mouth NOT_TRANSLATED +en Habitual insertion of foreign bodies into bodily orifices HP:0032508 IAO:0000115 nl Habitual insertion of foreign bodies into bodily orifices NOT_TRANSLATED +en Habitual repetitive movement of the body HP:0012172 IAO:0000115 nl Habitual repetitive movement of the body NOT_TRANSLATED +en Habitual striking of one's own head against a surface such as a mattress or wall of a crib HP:0012168 IAO:0000115 nl Habitual striking of one's own head against a surface such as a mattress or wall of a crib NOT_TRANSLATED +en Hair follicle neoplasm HP:0012843 rdfs:label nl Haarfollikel neoplasma CANDIDATE +en Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull HP:0010814 IAO:0000115 nl Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull NOT_TRANSLATED +en Hair on the neck extends less inferiorly than usual HP:0012891 IAO:0000115 nl Hair on the neck extends less inferiorly than usual NOT_TRANSLATED +en Hair on the neck extends more inferiorly than usual HP:0002162 IAO:0000115 nl Hair on the neck extends more inferiorly than usual NOT_TRANSLATED +en Hair shafts are rough in texture HP:0002208 IAO:0000115 nl Hair shafts are rough in texture NOT_TRANSLATED +en Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes HP:0003329 rdfs:label nl Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes NOT_TRANSLATED +en Hair that is disorderly, stands out from the scalp, and cannot be combed flat HP:0030056 IAO:0000115 nl Hair that is disorderly, stands out from the scalp, and cannot be combed flat NOT_TRANSLATED +en Hair that is fine or thin to the touch HP:0002213 IAO:0000115 nl Hair that is fine or thin to the touch NOT_TRANSLATED +en Hair that lacks the lustre (shine or gleam) of normal hair HP:0011359 IAO:0000115 nl Hair that lacks the lustre (shine or gleam) of normal hair NOT_TRANSLATED +en Hair whose growth is slower than normal HP:0002217 IAO:0000115 nl Hair whose growth is slower than normal NOT_TRANSLATED +en Hair whose growth rate deviates from the norm HP:0011363 IAO:0000115 nl Hair whose growth rate deviates from the norm NOT_TRANSLATED +en Hair xenobiotic HP:0500099 rdfs:label nl Hair xenobiotic NOT_TRANSLATED +en Hair-nail ectodermal dysplasia HP:0007436 rdfs:label nl Haar-nagel ectodermale dysplasie CANDIDATE +en Hair-pulling HP:0012167 rdfs:label nl Haren trekken CANDIDATE +en Halberd-shaped pelvis HP:0002826 rdfs:label nl Halberd-vormig bekken CANDIDATE +en Halitosis HP:0100812 rdfs:label nl Halitose CANDIDATE +en Hallucinations HP:0000738 rdfs:label nl Hallucinaties CANDIDATE +en Hallux rigidus HP:0025004 rdfs:label nl Hallux rigidus CANDIDATE +en Hallux valgus HP:0001822 rdfs:label nl Hallux valgus CANDIDATE +en Hallux varus HP:0008080 rdfs:label nl Hallux varus CANDIDATE +en Hamartoma HP:0010566 rdfs:label nl Hamartoom CANDIDATE +en Hamartoma of the eye HP:0010568 rdfs:label nl Hamartoom van het oog CANDIDATE +en Hamartoma of the orbital region HP:0030670 rdfs:label nl Hamartoom van de orbitale regio CANDIDATE +en Hamartoma of tongue HP:0011802 rdfs:label nl Hamartoom van tong CANDIDATE +en Hamartoma-like growth in the placenta consisting of blood vessels HP:0100883 IAO:0000115 nl Hamartoma-like growth in the placenta consisting of blood vessels NOT_TRANSLATED +en Hamartomatous polyposis HP:0004390 rdfs:label nl Hamarteuze polyposis CANDIDATE +en Hamartomatous stomach polyps HP:0004795 rdfs:label nl Hamarteuze maagpoliepen CANDIDATE +en Hammertoe HP:0001765 rdfs:label nl Hamerteen CANDIDATE +en Hamstring contractures HP:0003089 rdfs:label nl Hamstring contracturen CANDIDATE +en Hand apraxia HP:0032588 rdfs:label nl Hand apraxia NOT_TRANSLATED +en Hand clenching HP:0001188 rdfs:label nl Handknopen CANDIDATE +en Hand dimple HP:0040251 rdfs:label nl Dimples van de hand CANDIDATE +en Hand monodactyly HP:0004058 rdfs:label nl Hand monodactylie CANDIDATE +en Hand muscle atrophy HP:0009130 rdfs:label nl Hand spieratrofie CANDIDATE +en Hand muscle weakness HP:0030237 rdfs:label nl Hand spierzwakte CANDIDATE +en Hand oligodactyly HP:0001180 rdfs:label nl Hand oligodactylie CANDIDATE +en Hand pain HP:0046505 rdfs:label nl Hand pain NOT_TRANSLATED +en Hand paresthesia HP:0033660 rdfs:label nl Hand paresthesia NOT_TRANSLATED +en Hand polydactyly HP:0001161 rdfs:label nl Polydactylie van de hand CANDIDATE +en Hand tremor HP:0002378 rdfs:label nl Hand tremor CANDIDATE +en Hand-leading gestures HP:4000076 rdfs:label nl Hand-leading gestures NOT_TRANSLATED +en Handgrip myotonia HP:0012899 rdfs:label nl Handgreep myotonie CANDIDATE +en Happy demeanor HP:0040082 rdfs:label nl Gelukkig gedrag CANDIDATE +en Hard, pebble-like deposits that form within the gallbladder HP:0001081 IAO:0000115 nl Hard, pebble-like deposits that form within the gallbladder NOT_TRANSLATED +en Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate HP:0000176 IAO:0000115 nl Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate NOT_TRANSLATED +en Harlequin phenomenon HP:0025531 rdfs:label nl Harlekijnfenomeen CANDIDATE +en Hashimoto thyroiditis HP:0000872 rdfs:label nl Hashimoto thyroiditis CANDIDATE +en Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas HP:0500086 IAO:0000115 nl Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas NOT_TRANSLATED +en Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean HP:0012828 IAO:0000115 nl Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean NOT_TRANSLATED +en Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean HP:0012826 IAO:0000115 nl Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean NOT_TRANSLATED +en Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean HP:0012827 IAO:0000115 nl Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean NOT_TRANSLATED +en Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean HP:0012825 IAO:0000115 nl Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean NOT_TRANSLATED +en Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean HP:0012829 IAO:0000115 nl Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean NOT_TRANSLATED +en Having only one testis in the scrotum HP:0030868 IAO:0000115 nl Having only one testis in the scrotum NOT_TRANSLATED +en Hawkinsinuria HP:0034457 rdfs:label nl Hawkinsinuria NOT_TRANSLATED +en HbC hemoglobin HP:0032146 rdfs:label nl HbC hemoglobin NOT_TRANSLATED +en HbH hemoglobin HP:0011903 rdfs:label nl Hemoglobine H CANDIDATE +en HbS hemoglobin HP:0045047 rdfs:label nl HbS hemoglobine CANDIDATE +en Head circumference below 2 standard deviations below the mean for age and gender HP:0000252 IAO:0000115 nl Head circumference below 2 standard deviations below the mean for age and gender NOT_TRANSLATED +en Head circumference below 2 standard deviations below the mean for age and gender at birth HP:0011451 IAO:0000115 nl Microcefalie (HP:0000252) die reeds aanwezig is bij geboorte CANDIDATE +en Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth HP:0005484 IAO:0000115 nl Microcefalie (HP:0000252) met een startleeftijd in de postnatale periode, houdt in dat de hoofdomtrek in de normale range valt bij geboorte, maar later in de ontwikkeling achterblijft bij de normale waardes CANDIDATE +en Head is bent in the posterior direction in a permanent fashion HP:0031178 IAO:0000115 nl Head is bent in the posterior direction in a permanent fashion NOT_TRANSLATED +en Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision HP:0001361 IAO:0000115 nl Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision NOT_TRANSLATED +en Head titubation HP:0002599 rdfs:label nl Hoofd titubatie CANDIDATE +en Head tremor HP:0002346 rdfs:label nl Hoofd tremor CANDIDATE +en Head-banging HP:0012168 rdfs:label nl Head-banging CANDIDATE +en Headache HP:0002315 rdfs:label nl Hoofdpijn CANDIDATE +en Health status HP:0032319 rdfs:label nl Health status NOT_TRANSLATED +en Health status of a family member with respect to the disease being investigated in a proband HP:0032319 IAO:0000115 nl Health status of a family member with respect to the disease being investigated in a proband NOT_TRANSLATED +en Healthy HP:0032322 rdfs:label nl Healthy NOT_TRANSLATED +en Hearing abnormality HP:0000364 rdfs:label nl Gehoor abnormaliteit CANDIDATE +en Hearing impairment HP:0000365 rdfs:label nl Slechthorendheid CANDIDATE +en Hearing loss that occurs acutely and resolves completely HP:0012779 IAO:0000115 nl Hearing loss that occurs acutely and resolves completely NOT_TRANSLATED +en Heart block HP:0012722 rdfs:label nl Hartblok CANDIDATE +en Heart murmur HP:0030148 rdfs:label nl Hartruis CANDIDATE +en Heart rate of greater than 100 beats per minute HP:0011703 IAO:0000115 nl Heart rate of greater than 100 beats per minute NOT_TRANSLATED +en Heat intolerance HP:0002046 rdfs:label nl Hitte intolerantie CANDIDATE +en Heavy proteinuria HP:0012597 rdfs:label nl Zware proteïnurie CANDIDATE +en Heavy supraorbital ridges HP:0002054 rdfs:label nl Prominente supraorbitale plooien CANDIDATE +en Heavy-chain paraproteinemia HP:0031049 rdfs:label nl Heavy-chain paraproteinemia NOT_TRANSLATED +en Heberden's node HP:0012313 rdfs:label nl Nodulus van Heberden CANDIDATE +en Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective) HP:0000218 IAO:0000115 nl Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective) NOT_TRANSLATED +en Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips) HP:0000233 IAO:0000115 nl Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips) NOT_TRANSLATED +en Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective) HP:0010282 IAO:0000115 nl Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective) NOT_TRANSLATED +en Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective) HP:0000215 IAO:0000115 nl Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective) NOT_TRANSLATED +en Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective) HP:0000219 IAO:0000115 nl Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective) NOT_TRANSLATED +en Heightened emotional reactivity to environmental stimuli, including emotions of others HP:0041092 IAO:0000115 nl Heightened emotional reactivity to environmental stimuli, including emotions of others NOT_TRANSLATED +en Heinz bodies HP:0020082 rdfs:label nl Heinz bodies NOT_TRANSLATED +en Heinz body anemia HP:0005511 rdfs:label nl Heinz-lichaampjes anemie CANDIDATE +en Helicobacter pylori infection HP:0005202 rdfs:label nl Helicobacter pylori infectie CANDIDATE +en Heliotrope rash HP:0040324 rdfs:label nl Heliotrope huiduitslag CANDIDATE +en Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema HP:0030845 IAO:0000115 nl Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema NOT_TRANSLATED +en Heliotrope rash of eyelid HP:0030845 rdfs:label nl Heliotrope rash of eyelid NOT_TRANSLATED +en Hemangioblastoma HP:0010797 rdfs:label nl Hemangioblastoom CANDIDATE +en Hemangioma HP:0001028 rdfs:label nl Hemangioom CANDIDATE +en Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology HP:0007434 IAO:0000115 nl Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology NOT_TRANSLATED +en Hemangioma of the lip HP:0031490 rdfs:label nl Hemangioom van de lip CANDIDATE +en Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face HP:0000996 IAO:0000115 nl Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face NOT_TRANSLATED +en Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals HP:0031449 IAO:0000115 nl Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals NOT_TRANSLATED +en Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face HP:0000329 IAO:0000115 nl Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face NOT_TRANSLATED +en Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face HP:0004664 IAO:0000115 nl Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face NOT_TRANSLATED +en Hemangiomatosis HP:0007461 rdfs:label nl Hemangiomatose CANDIDATE +en Hematemesis HP:0002248 rdfs:label nl Hematemesis CANDIDATE +en Hematochezia HP:0002573 rdfs:label nl Hematochezie CANDIDATE +en Hematocolpos HP:0031923 rdfs:label nl Hematocolpos NOT_TRANSLATED +en Hematological neoplasm HP:0004377 rdfs:label nl Hematologisch neoplasma CANDIDATE +en Hematuria HP:0000790 rdfs:label nl Hematurie CANDIDATE +en Hematuria that is visible upon inspection of the urine HP:0012587 IAO:0000115 nl Hematuria that is visible upon inspection of the urine NOT_TRANSLATED +en Hemeralopia HP:0012047 rdfs:label nl Hemeralopie CANDIDATE +en Hemianopia HP:0012377 rdfs:label nl Hemianopsie CANDIDATE +en Hemiareflexia HP:0031004 rdfs:label nl Hemi-areflexie CANDIDATE +en Hemiatrophy HP:0100556 rdfs:label nl Hemiatrofie CANDIDATE +en Hemiatrophy of lower limb HP:0100557 rdfs:label nl Hemiatrofie van onderste ledemaat CANDIDATE +en Hemiatrophy of upper limb HP:0100558 rdfs:label nl Hemiatrofie van bovenste ledemaat CANDIDATE +en Hemiballismus HP:0100248 rdfs:label nl Hemiballisme CANDIDATE +en Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements HP:0100248 IAO:0000115 nl Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements NOT_TRANSLATED +en Hemidystonia HP:0032005 rdfs:label nl Hemidystonia NOT_TRANSLATED +en Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg HP:0032005 IAO:0000115 nl Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg NOT_TRANSLATED +en Hemifacial atrophy HP:0011331 rdfs:label nl Hemifaciale atrofie CANDIDATE +en Hemifacial hypertrophy HP:0005323 rdfs:label nl Hemifaciale hypertrofie CANDIDATE +en Hemifacial hypoplasia HP:0011332 rdfs:label nl Hemifaciale hypoplasie CANDIDATE +en Hemifacial spasm HP:0010828 rdfs:label nl Hemifaciale spasme CANDIDATE +en Hemihypertrophy HP:0001528 rdfs:label nl Hemihypertrofie CANDIDATE +en Hemihypertrophy of lower limb HP:0100553 rdfs:label nl Hemihypertrofie van onderste ledemaat CANDIDATE +en Hemihypertrophy of upper limb HP:0100554 rdfs:label nl Hemihypertrofie van bovenste ledemaat CANDIDATE +en Hemihypotrophy of lower limb HP:0200053 rdfs:label nl Hemihypotrofie van onderste extremiteit CANDIDATE +en Hemihypsarrhythmia HP:0011215 rdfs:label nl Hemihypsarrhythmie CANDIDATE +en Hemimacroglossia HP:0100875 rdfs:label nl Hemimacroglossie CANDIDATE +en Hemimegalencephaly HP:0007206 rdfs:label nl Hemimegalencefalie CANDIDATE +en Hemiparesis HP:0001269 rdfs:label nl Hemiparese CANDIDATE +en Hemiplegia HP:0002301 rdfs:label nl Hemiplegie CANDIDATE +en Hemiplegia/hemiparesis HP:0004374 rdfs:label nl Hemiplegie/hemiparese CANDIDATE +en Hemiretinal vein occlusion HP:0020167 rdfs:label nl Hemiretinal vein occlusion NOT_TRANSLATED +en Hemisacrum HP:0009790 rdfs:label nl Hemisacrum CANDIDATE +en Hemivertebrae HP:0002937 rdfs:label nl Hemivertebrae CANDIDATE +en Hemobilia HP:0100762 rdfs:label nl Hemobilie CANDIDATE +en Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia HP:0011905 IAO:0000115 nl Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia NOT_TRANSLATED +en Hemoglobin Barts HP:0005507 rdfs:label nl Hb Barts CANDIDATE +en Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent HP:0011904 IAO:0000115 nl Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent NOT_TRANSLATED +en Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia HP:0011903 IAO:0000115 nl Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia NOT_TRANSLATED +en Hemoglobinuria HP:0003641 rdfs:label nl Hemoglobinurie CANDIDATE +en Hemolytic anemia HP:0001878 rdfs:label nl Hemolytische anemie CANDIDATE +en Hemolytic-uremic syndrome HP:0005575 rdfs:label nl Hemolytisch-uremisch syndroom CANDIDATE +en Hemopericardium HP:0011851 rdfs:label nl Hemopericard CANDIDATE +en Hemoperitoneum HP:0011854 rdfs:label nl Hemoperitoneum CANDIDATE +en Hemophagocytosis HP:0012156 rdfs:label nl Hemofagocytose CANDIDATE +en Hemoptysis HP:0002105 rdfs:label nl Hemoptoë CANDIDATE +en Hemorrhage affecting the gastrointestinal tract HP:0002239 IAO:0000115 nl Hemorrhage affecting the gastrointestinal tract NOT_TRANSLATED +en Hemorrhage affecting the gingiva HP:0000225 IAO:0000115 nl Hemorrhage affecting the gingiva NOT_TRANSLATED +en Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum HP:0012541 IAO:0000115 nl Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum NOT_TRANSLATED +en Hemorrhage from the vessels of the choroid HP:0011887 IAO:0000115 nl Hemorrhage from the vessels of the choroid NOT_TRANSLATED +en Hemorrhage into the parenchyma of the brain HP:0001342 IAO:0000115 nl Hemorrhage into the parenchyma of the brain NOT_TRANSLATED +en Hemorrhage into the parenchyma of the cerebellum HP:0011695 IAO:0000115 nl Hemorrhage into the parenchyma of the cerebellum NOT_TRANSLATED +en Hemorrhage occurring between the arachnoid mater and the pia mater HP:0002138 IAO:0000115 nl Hemorrhage occurring between the arachnoid mater and the pia mater NOT_TRANSLATED +en Hemorrhage occurring between the dura mater and the arachnoid mater HP:0100309 IAO:0000115 nl Hemorrhage occurring between the dura mater and the arachnoid mater NOT_TRANSLATED +en Hemorrhage occurring between the dura mater and the skull HP:0100310 IAO:0000115 nl Hemorrhage occurring between the dura mater and the skull NOT_TRANSLATED +en Hemorrhage occurring within a joint HP:0005261 IAO:0000115 nl Hemorrhage occurring within a joint NOT_TRANSLATED +en Hemorrhage occurring within the retina HP:0000573 IAO:0000115 nl Hemorrhage occurring within the retina NOT_TRANSLATED +en Hemorrhage occurring within the skull HP:0002170 IAO:0000115 nl Hemorrhage occurring within the skull NOT_TRANSLATED +en Hemorrhage of the eye HP:0011885 rdfs:label nl Bloeding van het oog CANDIDATE +en Hemorrhagic ovarian cyst HP:0012886 rdfs:label nl Hemorragische ovariumcyste CANDIDATE +en Hemorrhoids HP:0032551 rdfs:label nl Hemorrhoids NOT_TRANSLATED +en Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP) HP:0032979 IAO:0000115 nl Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP) NOT_TRANSLATED +en Hemosiderin-laden macrophages in bronchoalveolar fluid HP:0032979 rdfs:label nl Hemosiderin-laden macrophages in bronchoalveolar fluid NOT_TRANSLATED +en Hemosiderinuria HP:0012543 rdfs:label nl Hemosiderinurie CANDIDATE +en Hemothorax HP:0012151 rdfs:label nl Hemothorax CANDIDATE +en Heparan sulfate excretion in urine HP:0002159 rdfs:label nl Heparansulfaat excretie in urine CANDIDATE +en Heparin-induced thrombocytopenia HP:0011874 rdfs:label nl Heparine-geïnduceerde trombocytopenie CANDIDATE +en Hepatic agenesis HP:0100839 rdfs:label nl Hepatische agenesie CANDIDATE +en Hepatic amyloidosis HP:0012280 rdfs:label nl Hepatische amyloidose CANDIDATE +en Hepatic arteriovenous malformation HP:0006574 rdfs:label nl Hepatische arterioveneuze malformatie CANDIDATE +en Hepatic bridging fibrosis HP:0012852 rdfs:label nl Hepatic bridging fibrosis NOT_TRANSLATED +en Hepatic calcification HP:0006559 rdfs:label nl Hepatische calcificatie CANDIDATE +en Hepatic cysts HP:0001407 rdfs:label nl Hepatische cysten CANDIDATE +en Hepatic encephalopathy HP:0002480 rdfs:label nl Hepatische encefalopathie CANDIDATE +en Hepatic failure HP:0001399 rdfs:label nl Leverfalen CANDIDATE +en Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver HP:0006554 IAO:0000115 nl Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver NOT_TRANSLATED +en Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver HP:0004448 IAO:0000115 nl Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver NOT_TRANSLATED +en Hepatic fibrosis HP:0001395 rdfs:label nl Hepatische fibrose CANDIDATE +en Hepatic fibrosis that reaches from a portal area to another portal area HP:0012852 IAO:0000115 nl Hepatic fibrosis that reaches from a portal area to another portal area NOT_TRANSLATED +en Hepatic foam cells HP:0034029 rdfs:label nl Hepatic foam cells NOT_TRANSLATED +en Hepatic focal nodular hyperplasia HP:0034498 rdfs:label nl Hepatic focal nodular hyperplasia NOT_TRANSLATED +en Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated HP:0034498 IAO:0000115 nl Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated NOT_TRANSLATED +en Hepatic granulomatosis HP:0011955 rdfs:label nl Hepatische granulomatose CANDIDATE +en Hepatic hemangioma HP:0031207 rdfs:label nl Hepatisch hemangioom CANDIDATE +en Hepatic hemophagocytosis HP:0034797 rdfs:label nl Hemofagocytose in de lever OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Hepatic infarction HP:0033135 rdfs:label nl Hepatic infarction NOT_TRANSLATED +en Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography HP:0033135 IAO:0000115 nl Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography NOT_TRANSLATED +en Hepatic lobular inflammation HP:0033197 rdfs:label nl Hepatic lobular inflammation NOT_TRANSLATED +en Hepatic mastocytosis HP:0031824 rdfs:label nl Hepatic mastocytosis NOT_TRANSLATED +en Hepatic necrosis HP:0002605 rdfs:label nl Hepatische necrose CANDIDATE +en Hepatic periportal necrosis HP:0002614 rdfs:label nl Hepatische periportale necrose CANDIDATE +en Hepatic sinusoidal dilatation HP:0035006 rdfs:label nl Lever sinusoïdale dilatatie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Hepatic steatosis HP:0001397 rdfs:label nl Hepatische steatose CANDIDATE +en Hepatic vascular malformations HP:0006576 rdfs:label nl Hepatische vasculaire malformaties CANDIDATE +en Hepatic vein thrombosis HP:0030243 rdfs:label nl Vena hepatica trombose CANDIDATE +en Hepatitis HP:0012115 rdfs:label nl Hepatitis CANDIDATE +en Hepatitis that lasts for more than six months HP:0200123 IAO:0000115 nl Hepatitis that lasts for more than six months NOT_TRANSLATED +en Hepatoblastoma HP:0002884 rdfs:label nl Hepatoblastoom CANDIDATE +en Hepatocellular adenoma HP:0012028 rdfs:label nl Hepatocellulair adenoom CANDIDATE +en Hepatocellular carcinoma HP:0001402 rdfs:label nl Hepatocellulair carcinoom CANDIDATE +en Hepatocellular necrosis HP:0001404 rdfs:label nl Hepatocellulaire necrose CANDIDATE +en Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material HP:0031137 IAO:0000115 nl Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material NOT_TRANSLATED +en Hepatojugular reflux HP:0030849 rdfs:label nl Hepatojugulaire reflux CANDIDATE +en Hepatomegaly HP:0002240 rdfs:label nl Hepatomegalie CANDIDATE +en Hepatopulmonary fusion HP:0410259 rdfs:label nl Hepatopulmonary fusion NOT_TRANSLATED +en Hepatosplenomegaly HP:0001433 rdfs:label nl Hepatosplenomegalie CANDIDATE +en Hereditary nonpolyposis colorectal carcinoma HP:0006716 rdfs:label nl Hereditair nonpolyposis colorectaalcarcinoom CANDIDATE +en Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized HP:0010458 IAO:0000115 nl Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized NOT_TRANSLATED +en Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes HP:0000037 IAO:0000115 nl Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes NOT_TRANSLATED +en Hernia HP:0100790 rdfs:label nl Hernia CANDIDATE +en Hernia of the abdominal wall HP:0004299 rdfs:label nl Hernia van de buikwand CANDIDATE +en Herniation of intervertebral nuclei HP:0008441 rdfs:label nl Herniatie van intervertebrale nuclei CANDIDATE +en Heroin addiction HP:0033517 rdfs:label nl Heroin addiction NOT_TRANSLATED +en Herpes simplex encephalitis HP:0012302 rdfs:label nl Herpes simplex encefalitis CANDIDATE +en Herpetiform HP:0025295 rdfs:label nl Herpetiform CANDIDATE +en Herpetiform corneal ulceration HP:0007812 rdfs:label nl Herpetiforme corneale ulceratie CANDIDATE +en Herpetiform vesicles HP:0031448 rdfs:label nl Herpetiforme vesikels CANDIDATE +en Heterochromia iridis HP:0001100 rdfs:label nl Iris-heterochromie CANDIDATE +en Heterochromia iridis is a difference in the color of the iris in the two eyes HP:0001100 IAO:0000115 nl Heterochromia iridis is a difference in the color of the iris in the two eyes NOT_TRANSLATED +en Heteronymous hemianopia HP:0030517 rdfs:label nl Heteronieme hemianopsie CANDIDATE +en Heterophoria HP:0032011 rdfs:label nl Heterophoria NOT_TRANSLATED +en Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs HP:0032011 IAO:0000115 nl Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs NOT_TRANSLATED +en Heterotaxy HP:0030853 rdfs:label nl Heterotaxie CANDIDATE +en Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter HP:0002282 IAO:0000115 nl Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter NOT_TRANSLATED +en Heterotopia that forms a continuous wavy line along the ventricular wall HP:0032390 IAO:0000115 nl Heterotopia that forms a continuous wavy line along the ventricular wall NOT_TRANSLATED +en Heterotropia HP:0032012 rdfs:label nl Heterotropia NOT_TRANSLATED +en Hiatus hernia HP:0002036 rdfs:label nl Hiatus hernia CANDIDATE +en Hidrotic ectodermal dysplasia HP:0007529 rdfs:label nl Hidrotische ectodermale dysplasie CANDIDATE +en High anterior hairline HP:0009890 rdfs:label nl Hoge voorste haarlijn CANDIDATE +en High axial triradius HP:0001042 rdfs:label nl Hoge axiale triradius CANDIDATE +en High dietary oxalate intake HP:4000124 rdfs:label nl High dietary oxalate intake NOT_TRANSLATED +en High forehead HP:0000348 rdfs:label nl Hoog voorhoofd CANDIDATE +en High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound HP:0100284 IAO:0000115 nl High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound NOT_TRANSLATED +en High hypermetropia HP:0008499 rdfs:label nl Hoge hypermetropie CANDIDATE +en High iliac wing HP:0008808 rdfs:label nl Hoge alae ossis ilium CANDIDATE +en High insertion of columella HP:0012807 rdfs:label nl Hoge insertie van columella CANDIDATE +en High intestinal obstruction HP:0005250 rdfs:label nl Hoge intestinale obstructie CANDIDATE +en High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state HP:0002919 IAO:0000115 nl High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state NOT_TRANSLATED +en High maternal circulating alpha-fetoprotein concentration HP:0011432 rdfs:label nl Hoog maternaal serum alfafoetoproteïne CANDIDATE +en High maternal circulating chorionic gonadotropin concentration HP:0011433 rdfs:label nl Hoog maternaal serum choriongonadotrofine CANDIDATE +en High myoinositol in brain by MRS HP:0025460 rdfs:label nl Hoog myo-inositol in de hersenen met MRS CANDIDATE +en High myopia HP:0011003 rdfs:label nl Hoge myopie CANDIDATE +en High nonceruloplasmin-bound serum copper HP:0010838 rdfs:label nl Hoog niet-ceruloplasmine-gebonden serum koper CANDIDATE +en High palate HP:0000218 rdfs:label nl Hoog gehemelte CANDIDATE +en High pitched voice HP:0001620 rdfs:label nl Hoge stem CANDIDATE +en High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime HP:0020170 IAO:0000115 nl High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime NOT_TRANSLATED +en High posterior hairline HP:0012891 rdfs:label nl Hoge achterste haarlijn CANDIDATE +en High pulse pressure HP:0030852 rdfs:label nl Hoge polsdruk CANDIDATE +en High renal tubular epithelial cell N/C ratio HP:0032605 rdfs:label nl High renal tubular epithelial cell N/C ratio NOT_TRANSLATED +en High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both HP:0500065 IAO:0000115 nl High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both NOT_TRANSLATED +en High serum calcifediol HP:0031414 rdfs:label nl Hoge serum calcifediol CANDIDATE +en High serum calcitriol HP:0031415 rdfs:label nl Hoge serum calcitriol CANDIDATE +en High urinary gonadotropin level HP:0003492 rdfs:label nl Hoge urinair gonadotrofinen niveau CANDIDATE +en High urine calcium in the presence of hypocalcemia HP:0012637 IAO:0000115 nl High urine calcium in the presence of hypocalcemia NOT_TRANSLATED +en High urine chloride in the presence of hypochloridemia HP:0012602 IAO:0000115 nl High urine chloride in the presence of hypochloridemia NOT_TRANSLATED +en High urine magnesium in the presence of hypomagnesemia HP:0005567 IAO:0000115 nl High urine magnesium in the presence of hypomagnesemia NOT_TRANSLATED +en High urine phosphate in the presence of hypophosphatemia HP:0000117 IAO:0000115 nl High urine phosphate in the presence of hypophosphatemia NOT_TRANSLATED +en High urine potassium in the presence of hypokalemia HP:0000128 IAO:0000115 nl High urine potassium in the presence of hypokalemia NOT_TRANSLATED +en High, narrow palate HP:0002705 rdfs:label nl Hoog, smal gehemelte CANDIDATE +en High-frequency hearing impairment HP:0005101 rdfs:label nl Hoge-frequentie slechthorendheid CANDIDATE +en High-frequency sensorineural hearing impairment HP:0001757 rdfs:label nl Hoog-frequente perceptieve slechthorendheid CANDIDATE +en High-grade vesicoureteral reflux HP:0033734 rdfs:label nl High-grade vesicoureteral reflux NOT_TRANSLATED +en High-output congestive heart failure HP:0001722 rdfs:label nl High-output congestief hartfalen CANDIDATE +en High-pitched cry HP:0025430 rdfs:label nl Hoge kreet CANDIDATE +en High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities HP:0025389 IAO:0000115 nl High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities NOT_TRANSLATED +en Highly arched eyebrow HP:0002553 rdfs:label nl Sterk gebogen wenkbrauw CANDIDATE +en Highly elevated creatine kinase HP:0030234 rdfs:label nl Verhoogd serum creatinefosfokinase CANDIDATE +en Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests) HP:4000070 IAO:0000115 nl Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests) NOT_TRANSLATED +en Hilar lymph node enlargement HP:0034388 rdfs:label nl Hilar lymph node enlargement NOT_TRANSLATED +en Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) HP:0034388 IAO:0000115 nl Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral) NOT_TRANSLATED +en Hip adductor weakness HP:0033416 rdfs:label nl Hip adductor weakness NOT_TRANSLATED +en Hip contracture HP:0003273 rdfs:label nl Heup contractuur CANDIDATE +en Hip dislocation HP:0002827 rdfs:label nl Heup dislocatie CANDIDATE +en Hip dysplasia HP:0001385 rdfs:label nl Heupdysplasie CANDIDATE +en Hip flexor weakness HP:0012515 rdfs:label nl Heupflexor zwakte CANDIDATE +en Hip joint hypermobility HP:0045087 rdfs:label nl Heupgewricht hypermobiliteit CANDIDATE +en Hip osteoarthritis HP:0008843 rdfs:label nl Heup osteoartritis CANDIDATE +en Hip pain HP:0030838 rdfs:label nl Heup pijn CANDIDATE +en Hip subluxation HP:0030043 rdfs:label nl Subluxatie van de heup CANDIDATE +en Hippocampal atrophy HP:0410170 rdfs:label nl Hippocampal atrophy NOT_TRANSLATED +en Hippocampal malrotation HP:0034396 rdfs:label nl Hippocampal malrotation NOT_TRANSLATED +en Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus HP:0034396 IAO:0000115 nl Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus NOT_TRANSLATED +en Hippocampal microinfarct HP:0033989 rdfs:label nl Hippocampal microinfarct NOT_TRANSLATED +en Hippocampal sclerosis HP:0033715 rdfs:label nl Hippocampal sclerosis NOT_TRANSLATED +en Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus HP:0033715 IAO:0000115 nl Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus NOT_TRANSLATED +en Hirano bodies HP:0100316 rdfs:label nl Hirano bodies CANDIDATE +en Hirsutism HP:0001007 rdfs:label nl Hirsutisme CANDIDATE +en Histidinuria HP:0002927 rdfs:label nl Histidinemie CANDIDATE +en Histiocytoid cardiomyopathy HP:0005152 rdfs:label nl Histiocytoïde cardiomyopathie CANDIDATE +en Histiocytoma HP:0012315 rdfs:label nl Histiocytoom CANDIDATE +en Histiocytosis HP:0100727 rdfs:label nl Histiocytose CANDIDATE +en Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells HP:0032947 IAO:0000115 nl Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells NOT_TRANSLATED +en Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells HP:0032946 IAO:0000115 nl Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells NOT_TRANSLATED +en Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells HP:0032945 IAO:0000115 nl Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells NOT_TRANSLATED +en Histoplasmosis HP:0032256 rdfs:label nl Histoplasmosis NOT_TRANSLATED +en Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS HP:0032257 IAO:0000115 nl Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS NOT_TRANSLATED +en Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons HP:0032256 IAO:0000115 nl Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons NOT_TRANSLATED +en History of bone marrow transplant HP:0032557 rdfs:label nl History of bone marrow transplant NOT_TRANSLATED +en History of cardiovascular procedure HP:0034420 rdfs:label nl History of cardiovascular procedure NOT_TRANSLATED +en History of congenital CMV infection HP:0033624 rdfs:label nl History of congenital CMV infection NOT_TRANSLATED +en History of congenital HPV infection HP:4000011 rdfs:label nl History of congenital HPV infection NOT_TRANSLATED +en History of events that precede the current presenting condition and are thought to be of potential relevance, having occured in the hours, days, or weeks before the current condition HP:4000144 IAO:0000115 nl History of events that precede the current presenting condition and are thought to be of potential relevance, having occured in the hours, days, or weeks before the current condition NOT_TRANSLATED +en History of exclusive breast feeding HP:4000122 rdfs:label nl History of exclusive breast feeding NOT_TRANSLATED +en History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation HP:4000111 IAO:0000115 nl History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation NOT_TRANSLATED +en History of having been treateed with 5-fluorouracil HP:4000135 IAO:0000115 nl History of having been treateed with 5-fluorouracil NOT_TRANSLATED +en History of having been treateed with 6-mercaptopurine HP:4000136 IAO:0000115 nl History of having been treateed with 6-mercaptopurine NOT_TRANSLATED +en History of having been treateed with isoniazid HP:4000137 IAO:0000115 nl History of having been treateed with isoniazid NOT_TRANSLATED +en History of having been treateed with prostaglandin E1 HP:4000134 IAO:0000115 nl History of having been treateed with prostaglandin E1 NOT_TRANSLATED +en History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem HP:4000119 IAO:0000115 nl History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem NOT_TRANSLATED +en History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene HP:4000115 IAO:0000115 nl History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene NOT_TRANSLATED +en History of having taken aminoglycoside antibiotics HP:4000113 IAO:0000115 nl History of having taken aminoglycoside antibiotics NOT_TRANSLATED +en History of having taken carbamazepine HP:4000116 IAO:0000115 nl History of having taken carbamazepine NOT_TRANSLATED +en History of having taken hydralazine HP:4000118 IAO:0000115 nl History of having taken hydralazine NOT_TRANSLATED +en History of having taken statins, also known as HMG-CoA reductase inhibitors HP:4000114 IAO:0000115 nl History of having taken statins, also known as HMG-CoA reductase inhibitors NOT_TRANSLATED +en History of having taken valproate (valproic acid) HP:4000117 IAO:0000115 nl History of having taken valproate (valproic acid) NOT_TRANSLATED +en History of recent animal bite HP:0020138 rdfs:label nl History of recent animal bite NOT_TRANSLATED +en History of recent cotralateral injury HP:4000151 rdfs:label nl History of recent cotralateral injury NOT_TRANSLATED +en History of recent dental procedure HP:4000146 rdfs:label nl History of recent dental procedure NOT_TRANSLATED +en History of recent insect bite HP:0020139 rdfs:label nl History of recent insect bite NOT_TRANSLATED +en History of recent tick bite HP:0020140 rdfs:label nl History of recent tick bite NOT_TRANSLATED +en History of recent viral illness HP:4000145 rdfs:label nl History of recent viral illness NOT_TRANSLATED +en History of repeated intermittent involuntary muscle contractions that were painful HP:0011964 IAO:0000115 nl History of repeated intermittent involuntary muscle contractions that were painful NOT_TRANSLATED +en History of stillbirth HP:0032468 rdfs:label nl History of stillbirth NOT_TRANSLATED +en Histrionic personality disorder HP:0012077 rdfs:label nl Theatrale persoonlijkheidsstoornis CANDIDATE +en Hitchhiker thumb HP:0001234 rdfs:label nl Lifter duim CANDIDATE +en Hoarse cry HP:0001615 rdfs:label nl Hese schreeuw CANDIDATE +en Hoarse voice HP:0001609 rdfs:label nl Hese stem CANDIDATE +en Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky HP:0001609 IAO:0000115 nl Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky NOT_TRANSLATED +en Hobby horse gait HP:0031856 rdfs:label nl Hobby horse gait NOT_TRANSLATED +en Hodgkin lymphoma HP:0012189 rdfs:label nl Hodgkin lymfoom CANDIDATE +en Hoffmann sign HP:0031993 rdfs:label nl Hoffmann sign NOT_TRANSLATED +en Holoprosencephaly HP:0001360 rdfs:label nl Holoprosencefalie CANDIDATE +en Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles HP:0001360 IAO:0000115 nl Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles NOT_TRANSLATED +en Holosystolic murmur HP:0031667 rdfs:label nl Holosystolische souffle CANDIDATE +en Homer Wright rosette HP:0031926 rdfs:label nl Homer Wright rosette NOT_TRANSLATED +en Homoargininuria HP:0034466 rdfs:label nl Homoargininuria NOT_TRANSLATED +en Homocitrullinuria HP:0034464 rdfs:label nl Homocitrullinuria NOT_TRANSLATED +en Homocystinuria HP:0002156 rdfs:label nl Homocystinurie CANDIDATE +en Homonymous hemianopia HP:0030516 rdfs:label nl Homonieme hemianopsie CANDIDATE +en Honeycomb lung HP:0025175 rdfs:label nl Honingraat long CANDIDATE +en Honeycomb palmoplantar hyperkeratosis HP:0007465 rdfs:label nl Honeycomb palmoplantar hyperkeratosis NOT_TRANSLATED +en Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care HP:0025175 IAO:0000115 nl Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care NOT_TRANSLATED +en Hooded eyelid HP:0030820 rdfs:label nl Hooded eyelid NOT_TRANSLATED +en Hooded lower eyelid HP:0030821 rdfs:label nl Hooded lower eyelid NOT_TRANSLATED +en Hooded upper eyelid HP:0030822 rdfs:label nl Hooded upper eyelid NOT_TRANSLATED +en Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling HP:0010607 IAO:0000115 nl Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling NOT_TRANSLATED +en Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling HP:0010608 IAO:0000115 nl Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling NOT_TRANSLATED +en Hordeolum HP:0010606 rdfs:label nl Hordeolum CANDIDATE +en Hordeolum externum HP:0010607 rdfs:label nl Hordeolum externum CANDIDATE +en Hordeolum internum HP:0010608 rdfs:label nl Hordeolum internum CANDIDATE +en Horizontal 10-40 degree excursions from fixation and back again HP:0032116 IAO:0000115 nl Horizontal 10-40 degree excursions from fixation and back again NOT_TRANSLATED +en Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest HP:0011823 IAO:0000115 nl Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest NOT_TRANSLATED +en Horizontal crus of helix HP:0009897 rdfs:label nl Horizontale crus helicis CANDIDATE +en Horizontal eyebrow HP:0011228 rdfs:label nl Horizontale wenkbrauw CANDIDATE +en Horizontal eyelid laxity HP:0032032 rdfs:label nl Horizontal eyelid laxity NOT_TRANSLATED +en Horizontal incomitant strabismus HP:0020044 rdfs:label nl Horizontaal incomitant strabismus CANDIDATE +en Horizontal inferior border of scapula HP:0031233 rdfs:label nl Horizontal inferior border of scapula NOT_TRANSLATED +en Horizontal jerk nystagmus HP:0007286 rdfs:label nl Horizontal jerk nystagmus NOT_TRANSLATED +en Horizontal nystagmus HP:0000666 rdfs:label nl Horizontale nystagmus CANDIDATE +en Horizontal nystagmus dating from or present at birth HP:0007859 IAO:0000115 nl Horizontal nystagmus dating from or present at birth NOT_TRANSLATED +en Horizontal nystagmus made apparent by looking to the right or to the left HP:0007979 IAO:0000115 nl Horizontal nystagmus made apparent by looking to the right or to the left NOT_TRANSLATED +en Horizontal opticokinetic nystagmus HP:0008026 rdfs:label nl Horizontale optokinetische nystagmus CANDIDATE +en Horizontal pendular nystagmus HP:0007811 rdfs:label nl Horizontale pendulaire nystagmus CANDIDATE +en Horizontal ribs HP:0000888 rdfs:label nl Horizontale ribben CANDIDATE +en Horizontal sacrum HP:0003440 rdfs:label nl Horizontaal sacrum CANDIDATE +en Horizontal supranuclear gaze palsy HP:0007817 rdfs:label nl Horizontale supranucleaire blik parese CANDIDATE +en Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic HP:0009780 IAO:0000115 nl Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic NOT_TRANSLATED +en Horner syndrome HP:0002277 rdfs:label nl Horner syndroom CANDIDATE +en Horseshoe kidney HP:0000085 rdfs:label nl Hoefijzernier CANDIDATE +en Horseshoe lung HP:0033242 rdfs:label nl Horseshoe lung NOT_TRANSLATED +en Hostility HP:0031473 rdfs:label nl Vijandigheid CANDIDATE +en Hot cross bun sign HP:0041056 rdfs:label nl Hot cross bun sign NOT_TRANSLATED +en Hot flashes HP:0031217 rdfs:label nl Hot flashes NOT_TRANSLATED +en Hot water-induced seizure HP:0020209 rdfs:label nl Hot water-induced seizure NOT_TRANSLATED +en House dust mite allergy HP:0410325 rdfs:label nl House dust mite allergy NOT_TRANSLATED +en Howell-Jolly bodies HP:0032550 rdfs:label nl Howell-Jolly bodies NOT_TRANSLATED +en Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets HP:0032550 IAO:0000115 nl Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets NOT_TRANSLATED +en Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease HP:0020114 IAO:0000115 nl Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease NOT_TRANSLATED +en Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth HP:0034223 IAO:0000115 nl Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth NOT_TRANSLATED +en Humeral cortical irregularity HP:0003867 rdfs:label nl Irregulariteit van cortex van de humerus CANDIDATE +en Humeral cortical thickening HP:0003868 rdfs:label nl Verdikking van cortex van de humerus CANDIDATE +en Humeral cortical thinning HP:0003869 rdfs:label nl Verdunning van cortex van de humerus CANDIDATE +en Humeral exostoses HP:0003872 rdfs:label nl Exostosen van humerus CANDIDATE +en Humeral lytic defects HP:0003875 rdfs:label nl Lytische defecten van humerus CANDIDATE +en Humeral metaphyseal irregularity HP:0003913 rdfs:label nl Irregulariteit van de metafyse van de humerus CANDIDATE +en Humeral pseudarthrosis HP:0003879 rdfs:label nl Pseudoartrose van humerus CANDIDATE +en Humeral sclerosis HP:0003881 rdfs:label nl Sclerose van humerus CANDIDATE +en Humeroradial synostosis HP:0003041 rdfs:label nl Humeroradiale synostose CANDIDATE +en Humeroulnar synostosis HP:0003939 rdfs:label nl Humero-ulnaire synostose CANDIDATE +en Humerus varus HP:0003874 rdfs:label nl Humerus varus CANDIDATE +en Humoral immunodeficiency HP:0005363 rdfs:label nl Humorale immuundeficiëntie CANDIDATE +en Hump-shaped mound of bone in central and posterior portions of vertebral endplate HP:0004594 rdfs:label nl Homp-vormige hoop bot in centrale en posterieure delen van de vertebrale eindplaat CANDIDATE +en Hurthle cell thyroid adenoma HP:0006781 rdfs:label nl Hurthle cel schildklier adenoom CANDIDATE +en Hyaline casts HP:0031200 rdfs:label nl Hyaline cilinders CANDIDATE +en Hyaline membranes HP:0033363 rdfs:label nl Hyaline membranes NOT_TRANSLATED +en Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult HP:0033363 IAO:0000115 nl Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactantnplastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult NOT_TRANSLATED +en Hyaloid vascular remnant and retrolental mass HP:0030744 rdfs:label nl Hyaloid vascular remnant and retrolental mass NOT_TRANSLATED +en Hydatidiform mole HP:0032192 rdfs:label nl Hydatidiform mole NOT_TRANSLATED +en Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast HP:0032192 IAO:0000115 nl Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast NOT_TRANSLATED +en Hydralazine exposure HP:4000118 rdfs:label nl Hydralazine exposure NOT_TRANSLATED +en Hydranencephaly HP:0002324 rdfs:label nl Hydranencefalie CANDIDATE +en Hydroa vacciniforme HP:0032381 rdfs:label nl Hydroa vacciniforme NOT_TRANSLATED +en Hydrocele testis HP:0000034 rdfs:label nl Hydrocele testis CANDIDATE +en Hydrocephalus HP:0000238 rdfs:label nl Hydrocephalus CANDIDATE +en Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation HP:0000238 IAO:0000115 nl Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation NOT_TRANSLATED +en Hydrocolpos HP:0030711 rdfs:label nl Hydrocolpos CANDIDATE +en Hydrometrocolpos HP:0030010 rdfs:label nl Hydrometrocolpos CANDIDATE +en Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina HP:0030010 IAO:0000115 nl Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina NOT_TRANSLATED +en Hydromyelia HP:0100565 rdfs:label nl Hydromyelie CANDIDATE +en Hydronephrosis HP:0000126 rdfs:label nl Hydronefrosis CANDIDATE +en Hydrophobia HP:0032505 rdfs:label nl Hydrophobia NOT_TRANSLATED +en Hydropic placenta HP:0011414 rdfs:label nl Hydropische placenta CANDIDATE +en Hydrops fetalis HP:0001789 rdfs:label nl Hydrops foetalis CANDIDATE +en Hydroureter HP:0000072 rdfs:label nl Hydroureter CANDIDATE +en Hydroxylysinemia HP:0034463 rdfs:label nl Hydroxylysinemia NOT_TRANSLATED +en Hydroxylysinuria HP:0032414 rdfs:label nl Hydroxylysinuria NOT_TRANSLATED +en Hydroxyprolinemia HP:0003260 rdfs:label nl Hydroxyprolinemie CANDIDATE +en Hydroxyprolinuria HP:0003080 rdfs:label nl Hydroxyprolinurie CANDIDATE +en Hyoplasia of the Leydig cells HP:0010790 rdfs:label nl Hyoplasia van de Leydig cellen CANDIDATE +en Hyperactive Achilles reflex HP:0033206 rdfs:label nl Hyperactive Achilles reflex NOT_TRANSLATED +en Hyperactive bowel sounds HP:0030143 rdfs:label nl Hyperactieve darm geluiden CANDIDATE +en Hyperactive deep tendon reflexes HP:0006801 rdfs:label nl Hyperactieve diepe peesreflexen CANDIDATE +en Hyperactive patellar reflex HP:0007083 rdfs:label nl Hyperactieve patellaire reflex CANDIDATE +en Hyperactive renin-angiotensin system HP:0000841 rdfs:label nl Hyperactieve renine-angiotensine systeem CANDIDATE +en Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee) HP:0007054 IAO:0000115 nl Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee) NOT_TRANSLATED +en Hyperactivity HP:0000752 rdfs:label nl Hyperactiviteit CANDIDATE +en Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate HP:0000752 IAO:0000115 nl Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate NOT_TRANSLATED +en Hyperacusis HP:0010780 rdfs:label nl Hyperacusis CANDIDATE +en Hyperalaninemia HP:0003348 rdfs:label nl Hyperalaninemie CANDIDATE +en Hyperalbuminemia HP:0012117 rdfs:label nl Hyperalbuminemie CANDIDATE +en Hyperaldosteronism HP:0000859 rdfs:label nl Hyperaldosteronisme CANDIDATE +en Hyperammonemia HP:0001987 rdfs:label nl Hyperammonemie CANDIDATE +en Hyperamylasemia HP:0410288 rdfs:label nl Hyperamylasemia NOT_TRANSLATED +en Hyperapobetalipoproteinemia HP:0008158 rdfs:label nl Hyper-apo-beta-lipoproteïnemie CANDIDATE +en Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein HP:0008158 IAO:0000115 nl Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein NOT_TRANSLATED +en Hyperargininemia HP:0500153 rdfs:label nl Hyperargininemia NOT_TRANSLATED +en Hyperasparaginemia HP:0500156 rdfs:label nl Hyperasparaginemia NOT_TRANSLATED +en Hyperautofluorescent macular lesion HP:0030631 rdfs:label nl Hyperautofluorescente macula laesies CANDIDATE +en Hyperautofluorescent retinal lesion HP:0025158 rdfs:label nl Hyperautofluorescente retinale laesies CANDIDATE +en Hyperbeta-alaninemia HP:0012556 rdfs:label nl Hyper-bèta-alaninemie CANDIDATE +en Hyperbilirubinemia HP:0002904 rdfs:label nl Hyperbilirubinemie CANDIDATE +en Hypercalcemia HP:0003072 rdfs:label nl Hypercalciëmie CANDIDATE +en Hypercalciuria HP:0002150 rdfs:label nl Hypercalciurie CANDIDATE +en Hypercapnia HP:0012416 rdfs:label nl Hypercapnie CANDIDATE +en Hypercapnia in cord blood HP:0410214 rdfs:label nl Hypercapnia in cord blood NOT_TRANSLATED +en Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells HP:0025364 IAO:0000115 nl Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells NOT_TRANSLATED +en Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina HP:0025363 IAO:0000115 nl Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina NOT_TRANSLATED +en Hyperchloremia HP:0011423 rdfs:label nl Hyperchloremie CANDIDATE +en Hyperchloremic acidosis HP:0001995 rdfs:label nl Hyperchloremische acidose CANDIDATE +en Hyperchloremic metabolic acidosis HP:0004918 rdfs:label nl Hyperchloremische metabole acidose CANDIDATE +en Hyperchloriduria HP:0002914 rdfs:label nl Hyperchloridurie CANDIDATE +en Hypercholesterolemia HP:0003124 rdfs:label nl Hypercholesterolemie CANDIDATE +en Hyperchromasia of renal tubular epithelial cells HP:0032621 rdfs:label nl Hyperchromasia of renal tubular epithelial cells NOT_TRANSLATED +en Hyperchromic macrocytic anemia HP:0004857 rdfs:label nl Hyperchrome macrocytaire anemie CANDIDATE +en Hypercitraturia HP:0012406 rdfs:label nl Hypercitraturie CANDIDATE +en Hypercoagulability HP:0100724 rdfs:label nl Hypercoagulabiliteit CANDIDATE +en Hyperconvex fingernails HP:0001812 rdfs:label nl Hyperconvexe vingernagels CANDIDATE +en Hyperconvex nail HP:0001795 rdfs:label nl Hyperconvexe nagel CANDIDATE +en Hyperconvex thumb nails HP:0008407 rdfs:label nl Hyperconvexe duim nagels CANDIDATE +en Hyperconvex toenail HP:0030055 rdfs:label nl Hyperconvexe teennagel CANDIDATE +en Hyperconvex vertebral body endplates HP:0004603 rdfs:label nl Hyperconvexe wervellichaam eindplaten CANDIDATE +en Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance HP:0005619 IAO:0000115 nl Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance NOT_TRANSLATED +en Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol HP:0011744 IAO:0000115 nl Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol NOT_TRANSLATED +en Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol HP:0001579 IAO:0000115 nl Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol NOT_TRANSLATED +en Hypercystinemia HP:0500151 rdfs:label nl Hypercystinemia NOT_TRANSLATED +en Hyperdense pulmonary mass HP:0033830 rdfs:label nl Hyperdense pulmonary mass NOT_TRANSLATED +en Hyperdeviation HP:0025587 rdfs:label nl Hyperdeviatie CANDIDATE +en Hyperdynamic left ventricular ejection fraction HP:0034313 rdfs:label nl Hyperdynamic left ventricular ejection fraction NOT_TRANSLATED +en Hyperechogenic kidneys HP:0004719 rdfs:label nl Hyperechogene nieren CANDIDATE +en Hyperechogenic pancreas HP:0006276 rdfs:label nl Hyperechogene pancreas CANDIDATE +en Hyperemesis gravidarum HP:0012188 rdfs:label nl Hyperemesis gravidarum CANDIDATE +en Hypereosinophilia HP:0032061 rdfs:label nl Hypereosinophilia NOT_TRANSLATED +en Hyperesthesia HP:0100963 rdfs:label nl Hyperesthesie CANDIDATE +en Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms HP:0003472 IAO:0000115 nl Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms NOT_TRANSLATED +en Hyperextensibility at elbow HP:0010485 rdfs:label nl Hyperextensibiliteit van elleboog CANDIDATE +en Hyperextensibility at wrists HP:0005072 rdfs:label nl Hyperextensibiliteit van polsen CANDIDATE +en Hyperextensibility of the finger joints HP:0001187 rdfs:label nl Hyperextensibiliteit van de vingergewrichten CANDIDATE +en Hyperextensibility of the knee HP:0010500 rdfs:label nl Hyperextensibiliteit van de knie CANDIDATE +en Hyperextensible hand joints HP:0005639 rdfs:label nl Hyperextensibele hand gewrichten CANDIDATE +en Hyperextensible skin HP:0000974 rdfs:label nl Hyperextensibele huid CANDIDATE +en Hyperextensible skin of chest HP:0011930 rdfs:label nl Hyperextensibiliteit van huid van de borst CANDIDATE +en Hyperextensible skin of face HP:0007425 rdfs:label nl Hyperextensibiliteit van huid van het gezicht CANDIDATE +en Hyperextensible thumb HP:0005722 rdfs:label nl Hyperextensibele duim CANDIDATE +en Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint HP:0001765 IAO:0000115 nl Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint NOT_TRANSLATED +en Hyperfibrinogenemia HP:0011899 rdfs:label nl Hyperfibrinogenemie CANDIDATE +en Hyperfibrinolysis HP:0040236 rdfs:label nl Hyperfibrinolyse CANDIDATE +en Hypergalactosemia HP:0012024 rdfs:label nl Hypergalactosemie CANDIDATE +en Hypergastrinemia HP:0500167 rdfs:label nl Hypergastrinemia NOT_TRANSLATED +en Hyperglutamatemia HP:0500149 rdfs:label nl Hyperglutamatemia NOT_TRANSLATED +en Hyperglutaminemia HP:0003217 rdfs:label nl Hyperglutaminemie CANDIDATE +en Hyperglutaminuria HP:0025376 rdfs:label nl Hyperglutaminurie CANDIDATE +en Hyperglycemia HP:0003074 rdfs:label nl Hyperglykemie CANDIDATE +en Hyperglycerolemia HP:0040302 rdfs:label nl Hyperglycerolemie CANDIDATE +en Hyperglycinemia HP:0002154 rdfs:label nl Hyperglycinemie CANDIDATE +en Hyperglycinuria HP:0003108 rdfs:label nl Hyperglycinurie CANDIDATE +en Hyperglycorrhachia HP:0031885 rdfs:label nl Hyperglycorrhachia NOT_TRANSLATED +en Hypergonadotropic hypogonadism HP:0000815 rdfs:label nl Hypergonadotrope hypogonadisme CANDIDATE +en Hypergranulosis HP:0025114 rdfs:label nl Hypergranulose CANDIDATE +en Hypergranulosis is an increased thickness of the stratum granulosum HP:0025114 IAO:0000115 nl Hypergranulosis is an increased thickness of the stratum granulosum NOT_TRANSLATED +en Hyperhidrosis HP:0000975 rdfs:label nl Hyperhidrose CANDIDATE +en Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating) HP:0025277 IAO:0000115 nl Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating) NOT_TRANSLATED +en Hyperhistidinemia HP:0010906 rdfs:label nl Hyperhistidinemie CANDIDATE +en Hyperhomocystinemia HP:0002160 rdfs:label nl Hyperhomocystinemie CANDIDATE +en Hyperimidodipeptiduria HP:0033187 rdfs:label nl Hyperimidodipeptiduria NOT_TRANSLATED +en Hyperinsulinemia HP:0000842 rdfs:label nl Hyperinsulinemie CANDIDATE +en Hyperinsulinemic hypoglycemia HP:0000825 rdfs:label nl Hyperinsulinemische hypoglykemie CANDIDATE +en Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging HP:0033249 IAO:0000115 nl Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging NOT_TRANSLATED +en Hyperintensity of MRI T2 signal of the spinal cord HP:0040272 rdfs:label nl Hyperintensiteit van MRI T2 signaal van ruggenmerg CANDIDATE +en Hyperintensity of cerebral white matter on MRI HP:0030890 rdfs:label nl Hyperintensiteit van cerebrale witte stof op MRI CANDIDATE +en Hyperisoleucinemia HP:0010913 rdfs:label nl Hyperisoleucinemie CANDIDATE +en Hyperkalemia HP:0002153 rdfs:label nl Hyperkaliëmie CANDIDATE +en Hyperkalemic metabolic acidosis HP:0005976 rdfs:label nl Hyperkaliëmische metabole acidose CANDIDATE +en Hyperkeratosis HP:0000962 rdfs:label nl Hyperkeratose CANDIDATE +en Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction HP:0007497 IAO:0000115 nl Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction NOT_TRANSLATED +en Hyperkeratosis affecting the sole of the foot HP:0007556 IAO:0000115 nl Hyperkeratosis affecting the sole of the foot NOT_TRANSLATED +en Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum HP:0000962 IAO:0000115 nl Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum NOT_TRANSLATED +en Hyperkeratosis lenticularis perstans HP:0007570 rdfs:label nl Hyperkeratose lenticularis perstans CANDIDATE +en Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa HP:0007570 IAO:0000115 nl Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa NOT_TRANSLATED +en Hyperkeratosis of the gingiva HP:0000222 IAO:0000115 nl Hyperkeratosis of the gingiva NOT_TRANSLATED +en Hyperkeratosis over edematous areas HP:0007448 rdfs:label nl Hyperkeratose over oedemateuze gebieden CANDIDATE +en Hyperkeratosis with erythema HP:0007390 rdfs:label nl Hyperkeratose met erytheem CANDIDATE +en Hyperkeratotic papule HP:0045059 rdfs:label nl Hyperkeratotische papel CANDIDATE +en Hyperketonemia HP:0410175 rdfs:label nl Hyperketonemia NOT_TRANSLATED +en Hyperkinetic movements HP:0002487 rdfs:label nl Hyperkinese CANDIDATE +en Hyperkinetic status epilepticus HP:0032666 rdfs:label nl Hyperkinetic status epilepticus NOT_TRANSLATED +en Hyperleucinemia HP:0010911 rdfs:label nl Hyperleucinemie CANDIDATE +en Hyperlipidemia HP:0003077 rdfs:label nl Hyperlipidemie CANDIDATE +en Hyperlipoproteinemia HP:0010980 rdfs:label nl Hyperlipoproteinemie CANDIDATE +en Hyperlordosis HP:0003307 rdfs:label nl Hyperlordose CANDIDATE +en Hyperlysinemia HP:0002161 rdfs:label nl Hyperlysinemie CANDIDATE +en Hyperlysinuria HP:0003297 rdfs:label nl Hyperlysinemie CANDIDATE +en Hypermagnesemia HP:0002918 rdfs:label nl Hypermagnesemie CANDIDATE +en Hypermagnesiuria HP:0012608 rdfs:label nl Hypermagnesiurie CANDIDATE +en Hypermanganesemia HP:0032097 rdfs:label nl Hypermanganesemia NOT_TRANSLATED +en Hypermelanotic macule HP:0001034 rdfs:label nl Hypermelanotische macula CANDIDATE +en Hypermethioninemia HP:0003235 rdfs:label nl Hypermethioninemie CANDIDATE +en Hypermetric downward saccades HP:0031832 rdfs:label nl Hypermetric downward saccades NOT_TRANSLATED +en Hypermetric horizontal saccades HP:0032013 rdfs:label nl Hypermetric horizontal saccades NOT_TRANSLATED +en Hypermetric saccades HP:0007338 rdfs:label nl Hypermetrische saccades CANDIDATE +en Hypermetropia HP:0000540 rdfs:label nl Hypermetropie CANDIDATE +en Hypermobility of distal interphalangeal joints HP:0006201 rdfs:label nl Hypermobiliteit van de distale interfalangeale gewrichten CANDIDATE +en Hypermobility of interphalangeal joints HP:0005620 rdfs:label nl Hypermobiliteit van interfalangeale gewrichten CANDIDATE +en Hypermobility of toe joints HP:0010510 rdfs:label nl Hypermobiliteit van teengewrichten CANDIDATE +en Hypermyelinated retinal nerve fibers HP:0007922 rdfs:label nl Gehypermyeliniseerde retinale zenuwvezels CANDIDATE +en Hypernatremia HP:0003228 rdfs:label nl Hypernatriëmie CANDIDATE +en Hypernatremic dehydration HP:0004906 rdfs:label nl Hypernatremische dehydratie CANDIDATE +en Hypernatriuria HP:0012605 rdfs:label nl Hypernatriurie CANDIDATE +en Hyperopic astigmatism HP:0000484 rdfs:label nl Hyperopisch astigmatisme CANDIDATE +en Hyperorality HP:0000710 rdfs:label nl Hyperoraliteit CANDIDATE +en Hyperornithinemia HP:0012026 rdfs:label nl Hyperornithinemie CANDIDATE +en Hyperosthenuria HP:0033359 rdfs:label nl Hyperosthenuria NOT_TRANSLATED +en Hyperostosis HP:0100774 rdfs:label nl Hyperostose CANDIDATE +en Hyperostosis (bony overgrowth) of the mandible HP:0004472 IAO:0000115 nl Hyperostosis (bony overgrowth) of the mandible NOT_TRANSLATED +en Hyperostosis cranialis interna HP:0005890 rdfs:label nl Hyperostose cranialis interna CANDIDATE +en Hyperostosis frontalis interna HP:0004438 rdfs:label nl Hyperostose frontalis interna CANDIDATE +en Hyperoxaluria HP:0003159 rdfs:label nl Hyperoxalurie CANDIDATE +en Hyperoxemia HP:0012419 rdfs:label nl Hyperoxemie CANDIDATE +en Hyperoxemia in cord blood HP:0410212 rdfs:label nl Hyperoxemia in cord blood NOT_TRANSLATED +en Hyperparakeratosis HP:0040009 rdfs:label nl Hyperparakeratose CANDIDATE +en Hyperparathyroidism HP:0000843 rdfs:label nl Hyperparathyroïdie CANDIDATE +en Hyperpepsinogenemia I HP:0003238 rdfs:label nl Hyperpepsinogenemie I CANDIDATE +en Hyperperistalsis HP:0100770 rdfs:label nl Hyperperistalsis CANDIDATE +en Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges HP:0030367 IAO:0000115 nl Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges NOT_TRANSLATED +en Hyperphalangy of the 2nd finger HP:0030368 rdfs:label nl Hyperfalangie van de 2e vinger CANDIDATE +en Hyperphalangy of the 3rd finger HP:0031010 rdfs:label nl Hyperfalangie van de 3e vinger CANDIDATE +en Hyperphenylalaninemia HP:0004923 rdfs:label nl Hyperfenylalaninemie CANDIDATE +en Hyperphoria HP:0025585 rdfs:label nl Hyperforie CANDIDATE +en Hyperphosphatemia HP:0002905 rdfs:label nl Hyperphosphatemie CANDIDATE +en Hyperphosphaturia HP:0003109 rdfs:label nl Hyperfosfaturie CANDIDATE +en Hyperpigmentation in sun-exposed areas HP:0005586 rdfs:label nl Hyperpigmentatie op aan zon blootgestelde gebieden CANDIDATE +en Hyperpigmentation of eyelids HP:0007406 rdfs:label nl Hyperpigmentatie van oogleden CANDIDATE +en Hyperpigmentation of the fundus HP:0011512 rdfs:label nl Hyperpigmentatie van de fundus CANDIDATE +en Hyperpigmentation of the skin HP:0000953 rdfs:label nl Hyperpigmentatie van de huid CANDIDATE +en Hyperpigmented genitalia HP:0030258 rdfs:label nl Gehyperpigmenteerde genitaliën CANDIDATE +en Hyperpigmented nevi HP:0007481 rdfs:label nl Gehyperpigmenteerde naevi CANDIDATE +en Hyperpigmented nevi and streak HP:0005606 rdfs:label nl Gehyperpigmenteerde naevi en strepen CANDIDATE +en Hyperpigmented nodule HP:0025529 rdfs:label nl Gehyperpigmenteerde nodulus CANDIDATE +en Hyperpigmented papule HP:0025473 rdfs:label nl Gehyperpigmenteerde papel CANDIDATE +en Hyperpigmented streaks HP:0007572 rdfs:label nl Gehyperpigmenteerde strepen CANDIDATE +en Hyperpigmented/hypopigmented macules HP:0007441 rdfs:label nl Gehyperpigmenteerde/gehypopigmenteerde maculae CANDIDATE +en Hyperpituitarism HP:0010514 rdfs:label nl Hyperpituitarisme CANDIDATE +en Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen HP:0030986 IAO:0000115 nl Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen NOT_TRANSLATED +en Hyperplasia of midface HP:0012371 rdfs:label nl Hyperplasia of midface NOT_TRANSLATED +en Hyperplasia of the Leydig cells HP:0010791 rdfs:label nl Hyperplasie van de Leydig cellen CANDIDATE +en Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia HP:0006560 IAO:0000115 nl Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia NOT_TRANSLATED +en Hyperplasia of the endometrium HP:0040298 rdfs:label nl Hyperplasie van het endometrium CANDIDATE +en Hyperplasia of the femoral trochanters HP:0002822 rdfs:label nl Hyperplasie van de femorale trochanters CANDIDATE +en Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown HP:0000212 IAO:0000115 nl Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown NOT_TRANSLATED +en Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others HP:0031223 IAO:0000115 nl Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others NOT_TRANSLATED +en Hyperplasia of the islets of Langerhans with a generalized distribution HP:0031224 IAO:0000115 nl Hyperplasia of the islets of Langerhans with a generalized distribution NOT_TRANSLATED +en Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells HP:0004510 IAO:0000115 nl Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells NOT_TRANSLATED +en Hyperplasia of the maxilla HP:0430028 rdfs:label nl Hyperplasie van de maxilla CANDIDATE +en Hyperplasia of the pancreas HP:0006277 IAO:0000115 nl Hyperplasia of the pancreas NOT_TRANSLATED +en Hyperplasia of the parathyroid gland HP:0008208 IAO:0000115 nl Hyperplasia of the parathyroid gland NOT_TRANSLATED +en Hyperplasia of the premaxilla HP:0430029 rdfs:label nl Hyperplasie van de premaxilla CANDIDATE +en Hyperplasia of the thyroid gland HP:0008249 IAO:0000115 nl Hyperplasia of the thyroid gland NOT_TRANSLATED +en Hyperplastic callus formation HP:0030268 rdfs:label nl Hyperplastische callusformatie CANDIDATE +en Hyperplastic colonic polyposis HP:0012183 rdfs:label nl Hyperplastische colonische polyposis CANDIDATE +en Hyperplastic labia majora HP:0012882 rdfs:label nl Hyperplastische labia majora CANDIDATE +en Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers HP:0025151 IAO:0000115 nl Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers NOT_TRANSLATED +en Hyperprolinemia HP:0008358 rdfs:label nl Hyperprolinemie CANDIDATE +en Hyperprostaglandinuria HP:0003527 rdfs:label nl Hyperprostaglandinurie CANDIDATE +en Hyperproteinemia HP:0002152 rdfs:label nl Hyperproteïnemie CANDIDATE +en Hyperpyrexia HP:0033031 rdfs:label nl Hyperpyrexia NOT_TRANSLATED +en Hyperreflexia HP:0001347 rdfs:label nl Hyperreflexie CANDIDATE +en Hyperreflexia in upper limbs HP:0007350 rdfs:label nl Hyperreflexie van bovenste ledematen CANDIDATE +en Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles HP:0001347 IAO:0000115 nl Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles NOT_TRANSLATED +en Hypersarcosinemia HP:0010896 rdfs:label nl Hypersarcosinemie CANDIDATE +en Hypersarcosinuria HP:0010897 rdfs:label nl Hypersarcosinurie CANDIDATE +en Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma HP:0010514 IAO:0000115 nl Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma NOT_TRANSLATED +en Hypersegmentation of neutrophil nuclei HP:0004821 rdfs:label nl Hypersegmentatie van neutrofielkernen CANDIDATE +en Hypersegmentation of neutrophil nuclei in CSF HP:0410312 rdfs:label nl Hypersegmentation of neutrophil nuclei in CSF NOT_TRANSLATED +en Hypersegmentation of proximal phalanx of second finger HP:0006206 rdfs:label nl Hypersegmentatie van proximale falanx van tweede vinger CANDIDATE +en Hypersegmentation of proximal phalanx of third finger HP:0011929 rdfs:label nl Hypersegmentatie van proximale falanx van derde vinger CANDIDATE +en Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products HP:0410330 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against alpha-gal HP:0410319 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against alpha-gal NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against animal dander HP:0410321 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against animal dander NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against animal proteins HP:0410320 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against animal proteins NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against bacteria HP:0410322 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against bacteria NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against cow milk protein HP:0100327 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against cow milk protein NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against dairy HP:0410327 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against dairy NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against drugs HP:0410323 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against drugs NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against dust mites HP:0410324 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against dust mites NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against eggs HP:0410328 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against eggs NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against feathers HP:0410326 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against feathers NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against fungus HP:0410334 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against fungus NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against gluten HP:0410329 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against gluten NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against house dust mites HP:0410325 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against house dust mites NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against insect bites HP:0410339 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against insect bites NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against insect venom HP:0410336 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against insect venom NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against insects HP:0410335 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against insects NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against nut food products HP:0410331 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against nut food products NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against parasites HP:0410337 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against parasites NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against plant based food allergens HP:0410332 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against plant based food allergens NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against plant products HP:0410338 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against plant products NOT_TRANSLATED +en Hypersensitivity in form of an adverse immune reaction against seafood HP:0410333 IAO:0000115 nl Hypersensitivity in form of an adverse immune reaction against seafood NOT_TRANSLATED +en Hypersensitivity pneumonitis HP:0006516 rdfs:label nl Hypersensitiviteits pneumonitis CANDIDATE +en Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010) HP:0006516 IAO:0000115 nl Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010) NOT_TRANSLATED +en Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement HP:0032378 IAO:0000115 nl Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement NOT_TRANSLATED +en Hyperserinemia HP:0500138 rdfs:label nl Hyperserinemia NOT_TRANSLATED +en Hypersexuality HP:0030214 rdfs:label nl Hyperseksualiteit CANDIDATE +en Hypersomnia HP:0100786 rdfs:label nl Hypersomnie CANDIDATE +en Hypersplenism HP:0001971 rdfs:label nl Hypersplenisme CANDIDATE +en Hypertaurinemia HP:0500181 rdfs:label nl Hypertaurinemia NOT_TRANSLATED +en Hypertelorism HP:0000316 rdfs:label nl Hypertelorisme CANDIDATE +en Hypertension HP:0000822 rdfs:label nl Hypertensie CANDIDATE +en Hypertension associated with pheochromocytoma HP:0002640 rdfs:label nl Hypertensie geassocieerd met feochromocytoom CANDIDATE +en Hypertensive crisis HP:0100735 rdfs:label nl Hypertensieve crisis CANDIDATE +en Hypertensive retinopathy HP:0001095 rdfs:label nl Hypertensieve retinopathie CANDIDATE +en Hyperthreoninemia HP:0003354 rdfs:label nl Hyperthreoninemie CANDIDATE +en Hyperthreoninuria HP:0003296 rdfs:label nl Hyperthreoninurie CANDIDATE +en Hyperthyroidism HP:0000836 rdfs:label nl Hyperthyreoïdie CANDIDATE +en Hypertonia HP:0001276 rdfs:label nl Hypertonie CANDIDATE +en Hypertonic dehydration HP:0001986 rdfs:label nl Hypertonische dehydratie CANDIDATE +en Hypertrichosis HP:0000998 rdfs:label nl Hypertrichose CANDIDATE +en Hypertrichosis is increased hair growth that is abnormal in quantity or location HP:0000998 IAO:0000115 nl Hypertrichosis is increased hair growth that is abnormal in quantity or location NOT_TRANSLATED +en Hypertrichotic hyperpigmented patch HP:0033190 rdfs:label nl Hypertrichotic hyperpigmented patch NOT_TRANSLATED +en Hypertriglyceridemia HP:0002155 rdfs:label nl Hypertriglyceridemie CANDIDATE +en Hypertrophic auricular cartilage HP:0008608 rdfs:label nl Hypertrophic auricular cartilage NOT_TRANSLATED +en Hypertrophic cardiomyopathy HP:0001639 rdfs:label nl Hypertrofische cardiomyopathie CANDIDATE +en Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality HP:0001639 IAO:0000115 nl Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality NOT_TRANSLATED +en Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray HP:0001670 IAO:0000115 nl Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray NOT_TRANSLATED +en Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy HP:0005157 IAO:0000115 nl Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy NOT_TRANSLATED +en Hypertrophic nerve changes HP:0003382 rdfs:label nl Hypertrofische zenuw veranderingen CANDIDATE +en Hypertrophied muscle fibers HP:0100293 rdfs:label nl Spiervezelhypertrofie CANDIDATE +en Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution HP:0003720 IAO:0000115 nl Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution NOT_TRANSLATED +en Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve) HP:0012892 IAO:0000115 nl Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED +en Hypertrophy of skin of soles HP:0007403 rdfs:label nl Hypertrofie van huid van zolen CANDIDATE +en Hypertrophy of the clitoris HP:0008665 IAO:0000115 nl Hypertrophy of the clitoris NOT_TRANSLATED +en Hypertrophy of the lower limb HP:0010496 rdfs:label nl Hypertrofie van onderste ledemaat CANDIDATE +en Hypertrophy of the stomach HP:0005207 IAO:0000115 nl Hypertrophy of the stomach NOT_TRANSLATED +en Hypertrophy of the upper limb HP:0010484 rdfs:label nl Hypertrofie van de bovenste ledemaat CANDIDATE +en Hypertrophy of the urinary bladder HP:0008635 rdfs:label nl Hypertrofie van de blaas CANDIDATE +en Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone HP:0010791 IAO:0000115 nl Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone NOT_TRANSLATED +en Hypertropia HP:0025586 rdfs:label nl Hypertropie CANDIDATE +en Hypertryptophanemia HP:0500134 rdfs:label nl Hypertryptophanemia NOT_TRANSLATED +en Hypertyrosinemia HP:0003231 rdfs:label nl Hypertyrosinemie CANDIDATE +en Hyperuricemia HP:0002149 rdfs:label nl Hyperurikemie CANDIDATE +en Hyperuricosuria HP:0003149 rdfs:label nl Hyperuricosurie CANDIDATE +en Hypervalinemia HP:0010910 rdfs:label nl Hypervalinemie CANDIDATE +en Hyperventilation HP:0002883 rdfs:label nl Hyperventilatie CANDIDATE +en Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide HP:0002883 IAO:0000115 nl Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide NOT_TRANSLATED +en Hypervolemia HP:0011105 rdfs:label nl Hypervolemie CANDIDATE +en Hyperxanthinemia HP:0010933 rdfs:label nl Afwijking van xanthine metabolisme CANDIDATE +en Hyphema HP:0011886 rdfs:label nl Hypheem CANDIDATE +en Hypnagogic hallucinations HP:0002519 rdfs:label nl Hypnagogicsche hallucinaties CANDIDATE +en Hypnic headache HP:0012459 rdfs:label nl Hypnagoge hoofdpijn CANDIDATE +en Hypnopompic hallucinations HP:0006896 rdfs:label nl Hypnopompische hallucinaties CANDIDATE +en Hypoactive bowel sounds HP:0030144 rdfs:label nl Hypoactive darm geluiden CANDIDATE +en Hypoalaninemia HP:0500154 rdfs:label nl Hypoalaninemia NOT_TRANSLATED +en Hypoalbuminemia HP:0003073 rdfs:label nl Hypoalbuminemie CANDIDATE +en Hypoammonemia HP:0100493 rdfs:label nl Hypoammonemie CANDIDATE +en Hypoamylasemia HP:0410289 rdfs:label nl Hypoamylasemia NOT_TRANSLATED +en Hypoargininemia HP:0005961 rdfs:label nl Hypoargininemie CANDIDATE +en Hypoasparaginemia HP:0500157 rdfs:label nl Hypoasparaginemia NOT_TRANSLATED +en Hypoautofluorescent macular lesion HP:0030632 rdfs:label nl Hypoautofluorescent macular lesion NOT_TRANSLATED +en Hypoautofluorescent retinal lesion HP:0025159 rdfs:label nl Hypoautofluorescente retinale laesies CANDIDATE +en Hypobilirubinemia HP:0033480 rdfs:label nl Hypobilirubinemia NOT_TRANSLATED +en Hypocalcemia HP:0002901 rdfs:label nl Hypocalcemie CANDIDATE +en Hypocalcemic seizures HP:0002199 rdfs:label nl Hypocalcemische insulten CANDIDATE +en Hypocalcemic tetany HP:0003472 rdfs:label nl Hypocalcemische tetanie CANDIDATE +en Hypocalcification of dental enamel HP:0011084 rdfs:label nl Hypocalcificatie van het glazuur van de tand CANDIDATE +en Hypocalciuria HP:0003127 rdfs:label nl Hypocalciurie CANDIDATE +en Hypocapnia HP:0012417 rdfs:label nl Hypocapnie CANDIDATE +en Hypocapnia in cord blood HP:0410215 rdfs:label nl Hypocapnia in cord blood NOT_TRANSLATED +en Hypochloremia HP:0003113 rdfs:label nl Hypochloremie CANDIDATE +en Hypochloremic metabolic alkalosis HP:0005977 rdfs:label nl Hypochloremische metabole alkalose CANDIDATE +en Hypochloriduria HP:0012601 rdfs:label nl Hypochloridurie CANDIDATE +en Hypocholesterolemia HP:0003146 rdfs:label nl Hypocholesterolemie CANDIDATE +en Hypochromia HP:0032231 rdfs:label nl Hypochromia NOT_TRANSLATED +en Hypochromic anemia HP:0001931 rdfs:label nl Hypochrome anemie CANDIDATE +en Hypochromic microcytic anemia HP:0004840 rdfs:label nl Hypochrome microcytaire anemie CANDIDATE +en Hypocitraturia HP:0012405 rdfs:label nl Hypocitraturie CANDIDATE +en Hypocystinemia HP:0500152 rdfs:label nl Hypocystinemia NOT_TRANSLATED +en Hypodeviation HP:0025588 rdfs:label nl Hypodeviatie CANDIDATE +en Hypodipsia HP:0025382 rdfs:label nl Hypodipsie CANDIDATE +en Hypodontia HP:0000668 rdfs:label nl Hypodontie CANDIDATE +en Hypodysplasia of the corpus callosum HP:0006849 rdfs:label nl Hypodysplasie van het corpus callosum CANDIDATE +en Hypoesthesia HP:0033748 rdfs:label nl Hypoesthesia NOT_TRANSLATED +en Hypofibrinogenemia HP:0011900 rdfs:label nl Hypofibrinogenemie CANDIDATE +en Hypoganglionosis HP:0025150 rdfs:label nl Hypoganglionose CANDIDATE +en Hypogeusia HP:0000224 rdfs:label nl Verminderde smaaksensatie CANDIDATE +en Hypoglutamatemia HP:0500150 rdfs:label nl Hypoglutamatemia NOT_TRANSLATED +en Hypoglutaminemia HP:0500147 rdfs:label nl Hypoglutaminemia NOT_TRANSLATED +en Hypoglycemia HP:0001943 rdfs:label nl Hypoglykemie CANDIDATE +en Hypoglycemic coma HP:0001325 rdfs:label nl Hypoglycemische coma CANDIDATE +en Hypoglycemic encephalopathy HP:0006929 rdfs:label nl Hypoglycemische encefalopathie CANDIDATE +en Hypoglycemic seizures HP:0002173 rdfs:label nl Hypoglycemische insulten CANDIDATE +en Hypoglycermia following a meal (or more generally, after intake of glucose) HP:0012051 IAO:0000115 nl Hypoglycermia following a meal (or more generally, after intake of glucose) NOT_TRANSLATED +en Hypoglycinemia HP:0012277 rdfs:label nl Hypoglycinemie CANDIDATE +en Hypoglycorrhachia HP:0011972 rdfs:label nl Hypoglycorrhachie CANDIDATE +en Hypoglycosylation of alpha-dystroglycan HP:0030046 rdfs:label nl Hypogycosylatie van alfa-dystroglycaan CANDIDATE +en Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix HP:0410362 IAO:0000115 nl Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix NOT_TRANSLATED +en Hypogonadism HP:0000135 rdfs:label nl Hypogonadisme CANDIDATE +en Hypogonadotropic hypogonadism HP:0000044 rdfs:label nl Hypogonadotroop hypogonadisme CANDIDATE +en Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH) HP:0000044 IAO:0000115 nl Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH) NOT_TRANSLATED +en Hypohidrosis HP:0000966 rdfs:label nl Hypohidrose CANDIDATE +en Hypohidrosis or hyperhidrosis HP:0007550 rdfs:label nl Hypohidrose of hyperhidrose CANDIDATE +en Hypohidrotic ectodermal dysplasia HP:0007607 rdfs:label nl Hypohidrotische ectodermale dysplasie CANDIDATE +en Hypohistidinemia HP:0500145 rdfs:label nl Hypohistidinemia NOT_TRANSLATED +en Hypohomocysteinemia HP:0020222 rdfs:label nl Hypohomocysteinemia NOT_TRANSLATED +en Hypoinsulinemia HP:0040216 rdfs:label nl Hypoinsulinemie CANDIDATE +en Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI) HP:0033049 IAO:0000115 nl Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI) NOT_TRANSLATED +en Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI) HP:0033048 IAO:0000115 nl Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI) NOT_TRANSLATED +en Hypointensity of cerebral white matter on MRI HP:0007103 rdfs:label nl Hypointensiteit van cerebrale witte stof op MRI CANDIDATE +en Hypoisoleucinemia HP:0500144 rdfs:label nl Hypoisoleucinemia NOT_TRANSLATED +en Hypokalemia HP:0002900 rdfs:label nl Hypokalemie CANDIDATE +en Hypokalemic alkalosis HP:0001949 rdfs:label nl Hypokalemische alkalose CANDIDATE +en Hypokalemic hypochloremic metabolic alkalosis HP:0004909 rdfs:label nl Hypokalemische hypochloremische metabole alkalose CANDIDATE +en Hypokalemic metabolic alkalosis HP:0001960 rdfs:label nl Hypokalemische metabole alkalose CANDIDATE +en Hypoketotic hypoglycemia HP:0001985 rdfs:label nl Hypoketotische hypoglykemie CANDIDATE +en Hypokinesia HP:0002375 rdfs:label nl Hypokinesie CANDIDATE +en Hypoleucinemia HP:0500143 rdfs:label nl Hypoleucinemia NOT_TRANSLATED +en Hypolipidemia HP:0045014 rdfs:label nl Hypolipidemie CANDIDATE +en Hypolipoproteinemia HP:0010981 rdfs:label nl Hypolipoproteinemie CANDIDATE +en Hypolysinemia HP:0500142 rdfs:label nl Hypolysinemia NOT_TRANSLATED +en Hypomagnesemia HP:0002917 rdfs:label nl Hypomagnesemie CANDIDATE +en Hypomagnesiuria HP:0012609 rdfs:label nl Hypomagnesiurie CANDIDATE +en Hypomanganesemia HP:0032098 rdfs:label nl Hypomanganesemia NOT_TRANSLATED +en Hypomature dental enamel HP:0011085 rdfs:label nl Hypomatuur glazuur van de tand CANDIDATE +en Hypomature enamel HP:0033786 rdfs:label nl Hypomature enamel NOT_TRANSLATED +en Hypomelanotic macule HP:0009719 rdfs:label nl Hypomelanotische macula CANDIDATE +en Hypomethioninemia HP:0003658 rdfs:label nl Hypomethioninemie CANDIDATE +en Hypometric horizontal saccades HP:0007975 rdfs:label nl Hypometrische horizontale saccades CANDIDATE +en Hypometric saccades HP:0000571 rdfs:label nl Hypometrische saccades CANDIDATE +en Hypometric upward saccades HP:0031833 rdfs:label nl Hypometric upward saccades NOT_TRANSLATED +en Hypomimic face HP:0000338 rdfs:label nl Hypomimisch gezicht CANDIDATE +en Hyponasal speech HP:0100271 rdfs:label nl Hyponasale spraak CANDIDATE +en Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion HP:0100271 IAO:0000115 nl Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion NOT_TRANSLATED +en Hyponatremia HP:0002902 rdfs:label nl Hyponatremie CANDIDATE +en Hyponatriuria HP:0012604 rdfs:label nl Hyponatriurie CANDIDATE +en Hypoornithinemia HP:0500163 rdfs:label nl Hypoornithinemia NOT_TRANSLATED +en Hypoparathyroidism HP:0000829 rdfs:label nl Hypoparathyroïdisme CANDIDATE +en Hypoperistalsis HP:0100771 rdfs:label nl Hypoperistalsis CANDIDATE +en Hypophenylalaninemia HP:0500141 rdfs:label nl Hypophenylalaninemia NOT_TRANSLATED +en Hypophoria HP:0031725 rdfs:label nl Hypoforie CANDIDATE +en Hypophosphatemia HP:0002148 rdfs:label nl Hypofosfatemie CANDIDATE +en Hypophosphatemic rickets HP:0004912 rdfs:label nl Hypofosfatemische rachitis CANDIDATE +en Hypophosphaturia HP:0012365 rdfs:label nl Hypofosfaturie CANDIDATE +en Hypopigmentation of hair HP:0005599 rdfs:label nl Hypopigmentatie van haar CANDIDATE +en Hypopigmentation of the fundus HP:0007894 rdfs:label nl Hypopigmentatie van de fundus CANDIDATE +en Hypopigmentation of the skin HP:0001010 rdfs:label nl Hypopigmentatie van de huid CANDIDATE +en Hypopigmented genitalia HP:0030259 rdfs:label nl Gehypopigmenteerde genitaliën CANDIDATE +en Hypopigmented hair that appears silver-gray HP:0002218 IAO:0000115 nl Hypopigmented hair that appears silver-gray NOT_TRANSLATED +en Hypopigmented hair that appears white HP:0011364 IAO:0000115 nl Hypopigmented hair that appears white NOT_TRANSLATED +en Hypopigmented macule HP:0020073 rdfs:label nl Hypopigmented macule NOT_TRANSLATED +en Hypopigmented skin patches HP:0001053 rdfs:label nl Hypogepigmenteerde huidvlekjes CANDIDATE +en Hypopigmented skin patches on arms HP:0007526 rdfs:label nl Hypogepigmenteerde huidvlekken op armen CANDIDATE +en Hypopigmented streaks HP:0007535 rdfs:label nl Gehypopigmenteerde strepen CANDIDATE +en Hypopituitarism HP:0040075 rdfs:label nl Hypopituïtarisme CANDIDATE +en Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger HP:0009566 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger HP:0004180 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger HP:0009237 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger HP:0009280 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger HP:0009577 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger HP:0009439 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger HP:0009597 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger HP:0009459 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger NOT_TRANSLATED +en Hypoplasia (congenital reduction in size) of the thumb HP:0009778 IAO:0000115 nl Hypoplasia (congenital reduction in size) of the thumb NOT_TRANSLATED +en Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest HP:0011959 IAO:0000115 nl Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest NOT_TRANSLATED +en Hypoplasia of all of the distal phalanx of finger HP:0006118 IAO:0000115 nl Hypoplasia of all of the distal phalanx of finger NOT_TRANSLATED +en Hypoplasia of deltoid muscle HP:0030241 rdfs:label nl Hypoplasie van de musculus deltoideus CANDIDATE +en Hypoplasia of eyelid HP:0430009 rdfs:label nl Hypoplasie van ooglid CANDIDATE +en Hypoplasia of facial musculature HP:0004660 rdfs:label nl Hypoplasie van aangezichtsmusculatuur CANDIDATE +en Hypoplasia of fetal nasal bone HP:0011430 rdfs:label nl Hypoplasia of fetal nasal bone NOT_TRANSLATED +en Hypoplasia of first ribs HP:0006657 rdfs:label nl Hypoplasie van eerste ribben CANDIDATE +en Hypoplasia of latissimus dorsi muscle HP:0009026 rdfs:label nl Hypoplasie van de musculus latissimus dorsi CANDIDATE +en Hypoplasia of lymphatic vessels HP:0003759 rdfs:label nl Hypoplasie van lymfevaten CANDIDATE +en Hypoplasia of mandible relative to maxilla HP:0410219 rdfs:label nl Hypoplasia of mandible relative to maxilla NOT_TRANSLATED +en Hypoplasia of maxilla relative to mandible HP:0410218 rdfs:label nl Hypoplasia of maxilla relative to mandible NOT_TRANSLATED +en Hypoplasia of olfactory tract HP:0007036 rdfs:label nl Hypoplasie van de tractus olfactorius CANDIDATE +en Hypoplasia of penis HP:0008736 rdfs:label nl Hypoplasie van penis CANDIDATE +en Hypoplasia of proximal fibula HP:0006442 rdfs:label nl Hypoplasie van proximale fibula CANDIDATE +en Hypoplasia of proximal radius HP:0006434 rdfs:label nl Hypoplasie van proximale radius CANDIDATE +en Hypoplasia of right ventricle HP:0004762 rdfs:label nl Hypoplasie van rechterventrikel CANDIDATE +en Hypoplasia of serratus anterior muscle HP:0009011 rdfs:label nl Hypoplasie van de musculus serratus anterior CANDIDATE +en Hypoplasia of teeth HP:0000685 rdfs:label nl Hypoplasie van tanden CANDIDATE +en Hypoplasia of the abdominal wall musculature HP:0005247 rdfs:label nl Hypoplasie van de buikwand musculatuur CANDIDATE +en Hypoplasia of the anterior nasal spine HP:0010666 rdfs:label nl Hypoplasie van de anterieure spina nasalis CANDIDATE +en Hypoplasia of the antihelix HP:0009739 rdfs:label nl Hypoplasie van de antihelix CANDIDATE +en Hypoplasia of the bladder HP:0005343 rdfs:label nl Hypoplasie van de blaas CANDIDATE +en Hypoplasia of the brainstem HP:0002365 rdfs:label nl Hypoplasie van de hersenstam CANDIDATE +en Hypoplasia of the calcaneus HP:0012789 rdfs:label nl Hypoplasie van de calcaneus CANDIDATE +en Hypoplasia of the capital femoral epiphysis HP:0003090 rdfs:label nl Hypoplasie van de epifyse van de femurkop CANDIDATE +en Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus HP:0006955 IAO:0000115 nl Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus NOT_TRANSLATED +en Hypoplasia of the ciliary body HP:0007774 rdfs:label nl Hypoplasie van het straalvormig lichaam CANDIDATE +en Hypoplasia of the cochlea HP:0008586 rdfs:label nl Hypoplasie van de cochlea CANDIDATE +en Hypoplasia of the corpus callosum HP:0002079 rdfs:label nl Hypoplasie van het corpus callosum CANDIDATE +en Hypoplasia of the dental root HP:0040221 rdfs:label nl Hypoplasie van de tandheelkundige wortel CANDIDATE +en Hypoplasia of the diaphragm HP:0040044 rdfs:label nl Hypoplasie van het diafragma CANDIDATE +en Hypoplasia of the ear cartilage HP:0100720 rdfs:label nl Hypoplasie van het oor kraakbeen CANDIDATE +en Hypoplasia of the eccrine sweat glands HP:0040043 rdfs:label nl Hypoplasie van de eccriene zweetklieren CANDIDATE +en Hypoplasia of the epiglottis HP:0005349 IAO:0000115 nl Hypoplasia of the epiglottis NOT_TRANSLATED +en Hypoplasia of the epiglottis HP:0005349 rdfs:label nl Hypoplasie van de epiglottis CANDIDATE +en Hypoplasia of the fallopian tube HP:0008697 rdfs:label nl Hypoplasie van de eileider CANDIDATE +en Hypoplasia of the femoral head HP:0008802 rdfs:label nl Hypoplasie van de femurkop CANDIDATE +en Hypoplasia of the fovea HP:0007750 rdfs:label nl Hypoplasie van de fovea CANDIDATE +en Hypoplasia of the frontal bone HP:0005466 rdfs:label nl Hypoplasie van het os frontalis CANDIDATE +en Hypoplasia of the frontal lobes HP:0007333 rdfs:label nl Hypoplasie van de frontale kwabben CANDIDATE +en Hypoplasia of the gallbladder HP:0005233 rdfs:label nl Hypoplasie van de galblaas CANDIDATE +en Hypoplasia of the iris HP:0007676 rdfs:label nl Hypoplasie van de iris CANDIDATE +en Hypoplasia of the iris dilator muscle HP:0008345 rdfs:label nl Hypoplasie van de musculus dilatator pupillae CANDIDATE +en Hypoplasia of the kidney HP:0000089 IAO:0000115 nl Hypoplasie van de nier CANDIDATE +en Hypoplasia of the lacrimal punctum HP:0007892 rdfs:label nl Hypoplasie van het punctum lacrimale CANDIDATE +en Hypoplasia of the lesser trochanter HP:0008801 rdfs:label nl Hyperplasie van de trochanter minor CANDIDATE +en Hypoplasia of the lower eyelids HP:0007697 rdfs:label nl Hypoplasie van de onderste oogleden CANDIDATE +en Hypoplasia of the maxilla HP:0000327 rdfs:label nl Hypoplasie van de maxilla CANDIDATE +en Hypoplasia of the maxillozygomatic complex HP:0005439 IAO:0000115 nl Hypoplasia of the maxillozygomatic complex NOT_TRANSLATED +en Hypoplasia of the midbrain HP:0034259 rdfs:label nl Hypoplasia of the midbrain NOT_TRANSLATED +en Hypoplasia of the musculature HP:0009004 rdfs:label nl Hypoplasie van de musculatuur CANDIDATE +en Hypoplasia of the musculature of the pelvis HP:0500026 rdfs:label nl Hypoplasie van de musculatuur van het bekken CANDIDATE +en Hypoplasia of the nasal bone HP:0004646 rdfs:label nl Hypoplasie van nasale bot CANDIDATE +en Hypoplasia of the odontoid process HP:0003311 rdfs:label nl Hypoplasie van het processus odontoideus CANDIDATE +en Hypoplasia of the olfactory bulb HP:0040326 rdfs:label nl Hypoplasie van de bulbus olfactorius CANDIDATE +en Hypoplasia of the optic tract HP:0007096 rdfs:label nl Hypoplasie van de tractus opticus CANDIDATE +en Hypoplasia of the ovary HP:0008724 rdfs:label nl Hypoplasie van het ovarium CANDIDATE +en Hypoplasia of the pancreas HP:0002594 IAO:0000115 nl Hypoplasia of the pancreas NOT_TRANSLATED +en Hypoplasia of the phalanges of the toes HP:0010746 rdfs:label nl Hypoplasie van de falangen van de tenen CANDIDATE +en Hypoplasia of the pharynx HP:0009555 rdfs:label nl Hypoplasie van de farynx CANDIDATE +en Hypoplasia of the pons HP:0012110 rdfs:label nl Hypoplasie van de pons CANDIDATE +en Hypoplasia of the premaxilla HP:0010650 rdfs:label nl Hypoplasie van de premaxilla CANDIDATE +en Hypoplasia of the primary teeth HP:0006334 rdfs:label nl Hypoplasie van de primaire tanden CANDIDATE +en Hypoplasia of the prostate HP:0008687 rdfs:label nl Hypoplasie van de prostaat CANDIDATE +en Hypoplasia of the pyramidal tract HP:0007348 rdfs:label nl Hypoplasie van de pyramidebaan CANDIDATE +en Hypoplasia of the radius HP:0002984 rdfs:label nl Hypoplasie van de radius CANDIDATE +en Hypoplasia of the retina HP:0007770 rdfs:label nl Hypoplasie van de retina CANDIDATE +en Hypoplasia of the second finger, also known as the index finger HP:0009536 IAO:0000115 nl Hypoplasia of the second finger, also known as the index finger NOT_TRANSLATED +en Hypoplasia of the semicircular canal HP:0011382 rdfs:label nl Hypoplasie van de semicirculaire kanaal CANDIDATE +en Hypoplasia of the small intestine HP:0004790 rdfs:label nl Hypoplasie van dunne darm CANDIDATE +en Hypoplasia of the thymus HP:0000778 rdfs:label nl Hypoplasie van de thymus CANDIDATE +en Hypoplasia of the tooth germ HP:0006353 rdfs:label nl Hypoplasie van de tandkiem CANDIDATE +en Hypoplasia of the triceps muscle HP:0100855 IAO:0000115 nl Hypoplasia of the triceps muscle NOT_TRANSLATED +en Hypoplasia of the ulna HP:0003022 rdfs:label nl Hypoplasie van de ulna CANDIDATE +en Hypoplasia of the upper arm musculature HP:0030239 rdfs:label nl Hypoplasie van de bovenarm musculatuur CANDIDATE +en Hypoplasia of the upper eyelids HP:0040032 rdfs:label nl Hypoplasie van de bovenste oogleden CANDIDATE +en Hypoplasia of the uterus HP:0000013 rdfs:label nl Hypoplasie van de uterus CANDIDATE +en Hypoplasia of the vagina HP:0008726 rdfs:label nl Hypoplasie van de vagina CANDIDATE +en Hypoplasia of the ventral pons HP:0006850 rdfs:label nl Hypoplasie van de ventrale pons CANDIDATE +en Hypoplasia of the vestibular nerve HP:0011394 rdfs:label nl Hypoplasie van de nervus vestibularis CANDIDATE +en Hypoplasia of the vestibule of the inner ear HP:0011378 rdfs:label nl Hypoplasie van het vestibulum van het binnenoor CANDIDATE +en Hypoplasia of the zygomatic bone HP:0010669 rdfs:label nl Hypoplasie van het os zygomaticum CANDIDATE +en Hypoplastic (short) distal phalanx of the thumb HP:0009650 IAO:0000115 nl Hypoplastic (short) distal phalanx of the thumb NOT_TRANSLATED +en Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009638 IAO:0000115 nl Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Hypoplastic (short) thumb phalanx HP:0009660 IAO:0000115 nl Hypoplastic (short) thumb phalanx NOT_TRANSLATED +en Hypoplastic 5th lumbar vertebrae HP:0008424 rdfs:label nl Hypoplastische 5e lumbale wervel CANDIDATE +en Hypoplastic L5 vertebral pedicle HP:0030279 rdfs:label nl Hypoplastische L5 vertebrale pedikel CANDIDATE +en Hypoplastic acetabulae HP:0003274 rdfs:label nl Hypoplastische acetabulae CANDIDATE +en Hypoplastic anemia HP:0001908 rdfs:label nl Hypoplastische anemie CANDIDATE +en Hypoplastic anterior commissure HP:0030303 rdfs:label nl Hypoplastische voorste commissuur CANDIDATE +en Hypoplastic anterior limbs of the internal capsule HP:0034051 rdfs:label nl Hypoplastic anterior limbs of the internal capsule NOT_TRANSLATED +en Hypoplastic aortic arch HP:0012304 rdfs:label nl Hypoplastische aortaboog CANDIDATE +en Hypoplastic areola HP:0100853 rdfs:label nl Hypoplastische areola CANDIDATE +en Hypoplastic carotid canal HP:0032045 rdfs:label nl Hypoplastic carotid canal NOT_TRANSLATED +en Hypoplastic cervical vertebrae HP:0008434 rdfs:label nl Hypoplastische cervicale wervels CANDIDATE +en Hypoplastic coccygeal vertebrae HP:0008447 rdfs:label nl Hypoplastische coccygeale wervels CANDIDATE +en Hypoplastic colon HP:0005210 rdfs:label nl Hypoplastisch colon CANDIDATE +en Hypoplastic dermoepidermal hemidesmosomes HP:0020117 rdfs:label nl Hypoplastic dermoepidermal hemidesmosomes NOT_TRANSLATED +en Hypoplastic distal humeri HP:0005025 rdfs:label nl Hypoplastische distale humeri CANDIDATE +en Hypoplastic distal radial epiphyses HP:0006386 rdfs:label nl Hypoplastische distale epifysen van radius CANDIDATE +en Hypoplastic distal segments of scapulae HP:0006631 rdfs:label nl Hypoplastische distale segmenten van scapulae CANDIDATE +en Hypoplastic facial bones HP:0002692 rdfs:label nl Hypoplastische gezichtsbotten CANDIDATE +en Hypoplastic female external genitalia HP:0012815 rdfs:label nl Hypoplastische vrouwelijke externe genitaliën CANDIDATE +en Hypoplastic fifth fingernail HP:0008398 rdfs:label nl Hypoplastische vijfde vingernagel CANDIDATE +en Hypoplastic fifth toenail HP:0011937 rdfs:label nl Hypoplastische vijfde teennagel CANDIDATE +en Hypoplastic fingernail HP:0001804 rdfs:label nl Hypoplastische vingernagel CANDIDATE +en Hypoplastic frontal sinuses HP:0002738 rdfs:label nl Hypoplastic frontale sinussen CANDIDATE +en Hypoplastic heart HP:0001961 rdfs:label nl Hypoplastisch hart CANDIDATE +en Hypoplastic helices HP:0008589 rdfs:label nl Hypoplastische helices CANDIDATE +en Hypoplastic hippocampus HP:0025517 rdfs:label nl Hypoplastische hippocampus CANDIDATE +en Hypoplastic ilia HP:0000946 rdfs:label nl Hypoplastische darmbeenderen CANDIDATE +en Hypoplastic iliac body HP:0008824 rdfs:label nl Hypoplastic iliac body NOT_TRANSLATED +en Hypoplastic iliac wing HP:0002866 rdfs:label nl Hypoplastisch ala ossis ilium CANDIDATE +en Hypoplastic inferior ilia HP:0008821 rdfs:label nl Hypoplastic inferior ilia NOT_TRANSLATED +en Hypoplastic inferior pubic rami HP:0008823 rdfs:label nl Hypoplastisch ramus inferior ossis pubis CANDIDATE +en Hypoplastic iris stroma HP:0007990 rdfs:label nl Hypoplastisch iris stroma CANDIDATE +en Hypoplastic ischia HP:0003175 rdfs:label nl Hypoplastische ischia CANDIDATE +en Hypoplastic ischiopubic rami HP:0008822 rdfs:label nl Hypoplastisch ramus ischiopubicus CANDIDATE +en Hypoplastic labia majora HP:0000059 rdfs:label nl Hypoplastische labia majora CANDIDATE +en Hypoplastic labia minora HP:0000064 rdfs:label nl Hypoplastische labia minora CANDIDATE +en Hypoplastic lacrimal duct HP:0007900 rdfs:label nl Hypoplastisch traanbuis CANDIDATE +en Hypoplastic left atrium HP:0005156 rdfs:label nl Hypoplastisch linker atrium CANDIDATE +en Hypoplastic left heart HP:0004383 rdfs:label nl Hypoplastisch linkerhart CANDIDATE +en Hypoplastic male external genitalia HP:0000050 rdfs:label nl Hypoplastische mannelijke externe genitaliën CANDIDATE +en Hypoplastic nasal bone HP:0025707 rdfs:label nl Hypoplastic nasal bone NOT_TRANSLATED +en Hypoplastic nasal bridge HP:0005281 rdfs:label nl Hypoplastische neusbrug CANDIDATE +en Hypoplastic nasal septum HP:0005104 rdfs:label nl Hypoplastisch septum nasi CANDIDATE +en Hypoplastic nasal tip HP:0005278 rdfs:label nl Hypoplastische neuspunt CANDIDATE +en Hypoplastic nasopharyngeal adenoids HP:0040258 rdfs:label nl Hypoplastische nasofaryngeale adenoïden CANDIDATE +en Hypoplastic nipples HP:0002557 rdfs:label nl Hypoplasticche tepels CANDIDATE +en Hypoplastic olfactory lobes HP:0006894 rdfs:label nl Hypoplastische olfactorische lobben CANDIDATE +en Hypoplastic optic chiasm HP:0034311 rdfs:label nl Hypoplastic optic chiasm NOT_TRANSLATED +en Hypoplastic pelvis HP:0008839 rdfs:label nl Hypoplastisch bekken CANDIDATE +en Hypoplastic philtrum HP:0005326 rdfs:label nl Hypoplastisch filtrum CANDIDATE +en Hypoplastic pilosebaceous units HP:0007515 rdfs:label nl Hypoplastische pilosebaceous eenheden CANDIDATE +en Hypoplastic posterior communicating artery HP:0012519 rdfs:label nl Hypoplastische arteria communicans posterior CANDIDATE +en Hypoplastic pubic bone HP:0003173 rdfs:label nl Hypoplastisch os pubis CANDIDATE +en Hypoplastic pubic rami HP:0008830 rdfs:label nl Hypoplastisch ramus ossis pubis CANDIDATE +en Hypoplastic pulmonary veins HP:0005304 rdfs:label nl Hypoplastische pulmonale aderen CANDIDATE +en Hypoplastic radial head HP:0003997 rdfs:label nl Hypoplastisch caput radialis CANDIDATE +en Hypoplastic right atrium HP:0031294 rdfs:label nl Hypoplastisch rechter atrium CANDIDATE +en Hypoplastic right heart HP:0010954 rdfs:label nl Hypoplastisch rechterhart CANDIDATE +en Hypoplastic sacral vertebrae HP:0008475 rdfs:label nl Hypoplastische sacrale wervels CANDIDATE +en Hypoplastic sacrum HP:0004590 rdfs:label nl Hypoplastisch sacrum CANDIDATE +en Hypoplastic scapulae HP:0000882 rdfs:label nl Hypoplastische scapulae CANDIDATE +en Hypoplastic spinal processes HP:0008460 rdfs:label nl Hypoplastische processus spinosus CANDIDATE +en Hypoplastic spleen HP:0006270 rdfs:label nl Hypoplastische milt CANDIDATE +en Hypoplastic superior helix HP:0008559 rdfs:label nl Hypoplastic superior helix NOT_TRANSLATED +en Hypoplastic sweat glands HP:0007387 rdfs:label nl Hypoplastische zweetklieren CANDIDATE +en Hypoplastic thumbnail HP:0012553 rdfs:label nl Hypoplastische duimnagel CANDIDATE +en Hypoplastic toenails HP:0001800 rdfs:label nl Hypoplastische teennagels CANDIDATE +en Hypoplastic tricuspid valve HP:0011573 rdfs:label nl Hypoplastische tricuspidalisklep CANDIDATE +en Hypoplastic umbilicus HP:0034453 rdfs:label nl Hypoplastic umbilicus NOT_TRANSLATED +en Hypoplastic vertebral bodies HP:0008479 rdfs:label nl Hypoplastische wervellichamen CANDIDATE +en Hypoplastic vertebral pedicle HP:0030278 rdfs:label nl Hypoplastische vertebrale pedikel CANDIDATE +en Hypoplastic-absent sebaceous glands HP:0007411 rdfs:label nl Hypoplastische-afwezige talgklieren CANDIDATE +en Hypoplastic/small 3rd (middle) finger HP:0009461 IAO:0000115 nl Hypoplastic/small 3rd (middle) finger NOT_TRANSLATED +en Hypoplastic/small distal phalanx of the fifth finger HP:0004227 IAO:0000115 nl Hypoplastic/small distal phalanx of the fifth finger NOT_TRANSLATED +en Hypoplastic/small distal phalanx of the fourth finger HP:0009290 IAO:0000115 nl Hypoplastic/small distal phalanx of the fourth finger NOT_TRANSLATED +en Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger HP:0009295 IAO:0000115 nl Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger NOT_TRANSLATED +en Hypoplastic/small middle phalanx of the fifth finger HP:0004220 IAO:0000115 nl Hypoplastic/small middle phalanx of the fifth finger NOT_TRANSLATED +en Hypoplastic/small or absent thumb HP:0009601 IAO:0000115 nl Hypoplastic/small or absent thumb NOT_TRANSLATED +en Hypoplastic/small proximal phalanx of the fifth finger HP:0009226 IAO:0000115 nl Hypoplastic/small proximal phalanx of the fifth finger NOT_TRANSLATED +en Hypoplastic/small proximal phalanx of the fourth finger HP:0009301 IAO:0000115 nl Hypoplastic/small proximal phalanx of the fourth finger NOT_TRANSLATED +en Hypopnea HP:0040213 rdfs:label nl Hypopnoe CANDIDATE +en Hypopnea is referring to breathing that is abnormally shallow HP:0040213 IAO:0000115 nl Hypopnea is referring to breathing that is abnormally shallow NOT_TRANSLATED +en Hypoprolinemia HP:0500139 rdfs:label nl Hypoprolinemia NOT_TRANSLATED +en Hypoproteinemia HP:0003075 rdfs:label nl Hypoproteinemie CANDIDATE +en Hypoproteinemic edema HP:0007609 rdfs:label nl Hypoproteinemisch oedeem CANDIDATE +en Hypopyon HP:0031615 rdfs:label nl Hypopyon CANDIDATE +en Hyporeflective spaces on macular OCT HP:0030625 rdfs:label nl Hyporeflective ruimtes op macula OCT CANDIDATE +en Hyporeflexia HP:0001265 rdfs:label nl Hyporeflexie CANDIDATE +en Hyporeflexia of lower limbs HP:0002600 rdfs:label nl Hyporeflexie van onderste ledematen CANDIDATE +en Hyporeflexia of upper limbs HP:0012391 rdfs:label nl Hyporeflexie van bovenste ledematen CANDIDATE +en Hyposegmentation of neutrophil nuclei HP:0011447 rdfs:label nl Hyposegmentatie van neutrofielkernen CANDIDATE +en Hyposegmentation of neutrophil nuclei in CSF HP:0410311 rdfs:label nl Hyposegmentation of neutrophil nuclei in CSF NOT_TRANSLATED +en Hyposegmented (hypolobulated) or bilobed neutrophil nuclei HP:0011447 IAO:0000115 nl Hyposegmented (hypolobulated) or bilobed neutrophil nuclei NOT_TRANSLATED +en Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid HP:0410311 IAO:0000115 nl Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid NOT_TRANSLATED +en Hyposerinemia HP:0012279 rdfs:label nl Hyposerinemie CANDIDATE +en Hyposmia HP:0004409 rdfs:label nl Hyposmie CANDIDATE +en Hypospadias HP:0000047 rdfs:label nl Hypospadie CANDIDATE +en Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis HP:0012854 IAO:0000115 nl Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis NOT_TRANSLATED +en Hypospadias with location of the urethral meatus in the perineal region HP:0000051 IAO:0000115 nl Hypospadias with location of the urethral meatus in the perineal region NOT_TRANSLATED +en Hypospadias with location of the urethral meatus in the scrotum HP:0012853 IAO:0000115 nl Hypospadias with location of the urethral meatus in the scrotum NOT_TRANSLATED +en Hyposthenuria HP:0003158 rdfs:label nl Hyposthenurie CANDIDATE +en Hypotaurinemia HP:0500182 rdfs:label nl Hypotaurinemia NOT_TRANSLATED +en Hypotelorism HP:0000601 rdfs:label nl Hypotelorisme CANDIDATE +en Hypotension HP:0002615 rdfs:label nl Hypotensie CANDIDATE +en Hypothalamic arteriovenous malformation HP:0031255 rdfs:label nl Hypothalame arterioveneuze malformatie CANDIDATE +en Hypothalamic atrophy HP:0025058 rdfs:label nl Hypothalame atrofie CANDIDATE +en Hypothalamic gliosis HP:0025037 rdfs:label nl Hypothalame gliose CANDIDATE +en Hypothalamic gonadotropin-releasing hormone deficiency HP:0003164 rdfs:label nl Hypothalame gonadotropine-releasing-hormoon deficiëntie CANDIDATE +en Hypothalamic hamartoma HP:0002444 rdfs:label nl Hypothalamisch hamartoom CANDIDATE +en Hypothalamic hypometabolism in FDG PET HP:0012661 rdfs:label nl Hypothalamus hypometabolisme op FDG-PET CANDIDATE +en Hypothalamic hypothyroidism HP:0008237 rdfs:label nl Hypothalame hypothyreoïdie CANDIDATE +en Hypothalamic luteinizing hormone-releasing hormone deficiency HP:0012287 rdfs:label nl Hypothalame luteïniserend hormoon-releasing hormoon deficiëntie CANDIDATE +en Hypothermia HP:0002045 rdfs:label nl Hypothermie CANDIDATE +en Hypothreoninemia HP:0500136 rdfs:label nl Hypothreoninemia NOT_TRANSLATED +en Hypothyroidism HP:0000821 rdfs:label nl Hypothyreoïdie CANDIDATE +en Hypotonia HP:0001252 rdfs:label nl Spierhypotonie CANDIDATE +en Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist HP:0001252 IAO:0000115 nl Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist NOT_TRANSLATED +en Hypotriglyceridemia HP:0012153 rdfs:label nl Hypotriglyceridemie CANDIDATE +en Hypotrophy of the small hand muscles HP:0006006 rdfs:label nl Hypoplasie van kleine handspieren CANDIDATE +en Hypotropia HP:0025584 rdfs:label nl Hypotropie CANDIDATE +en Hypotryptophanemia HP:0500135 rdfs:label nl Hypotryptophanemia NOT_TRANSLATED +en Hypotyrosinemia HP:0500133 rdfs:label nl Hypotyrosinemia NOT_TRANSLATED +en Hypouricemia HP:0003537 rdfs:label nl Hypo-uricemie CANDIDATE +en Hypovalinemia HP:0500132 rdfs:label nl Hypovalinemia NOT_TRANSLATED +en Hypoventilation HP:0002791 rdfs:label nl Hypoventilatie CANDIDATE +en Hypovolemia HP:0011106 rdfs:label nl Hypovolemie CANDIDATE +en Hypovolemic shock HP:0031274 rdfs:label nl Hypovolemische shock CANDIDATE +en Hypoxemia HP:0012418 rdfs:label nl Hypoxemie CANDIDATE +en Hypoxemia in cord blood HP:0410213 rdfs:label nl Hypoxemia in cord blood NOT_TRANSLATED +en Hypsarrhythmia HP:0002521 rdfs:label nl Hypsarrhythmie CANDIDATE +en Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG) HP:0002521 IAO:0000115 nl Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG) NOT_TRANSLATED +en Hypsarrhythmia occurring in one hemisphere HP:0011215 IAO:0000115 nl Hypsarrhythmia occurring in one hemisphere NOT_TRANSLATED +en Ichthyosis HP:0008064 rdfs:label nl Ichthyosis CANDIDATE +en Ichthyosis follicularis HP:0031291 rdfs:label nl Ichthyosis follicularis CANDIDATE +en Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed HP:0031291 IAO:0000115 nl Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed NOT_TRANSLATED +en Identification of Clostridium botulinum toxin in the feces HP:0034476 IAO:0000115 nl Identification of Clostridium botulinum toxin in the feces NOT_TRANSLATED +en Idiopathic anaphylaxis HP:0410148 rdfs:label nl Idiopathic anaphylaxis NOT_TRANSLATED +en Idiosyncratic language HP:4000074 rdfs:label nl Idiosyncratic language NOT_TRANSLATED +en If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood HP:0003612 IAO:0000115 nl If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood NOT_TRANSLATED +en If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space HP:0002389 IAO:0000115 nl If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space NOT_TRANSLATED +en IgA deposition in the glomerulus HP:0000794 rdfs:label nl IgA afzetting in de glomerulus CANDIDATE +en IgA heavy chain paraproteinemia HP:0020194 rdfs:label nl IgA heavy chain paraproteinemia NOT_TRANSLATED +en IgG heavy chain paraproteinemia HP:0020195 rdfs:label nl IgG heavy chain paraproteinemia NOT_TRANSLATED +en IgG4 autoimmune antibody positivity HP:0033629 rdfs:label nl IgG4 autoimmune antibody positivity NOT_TRANSLATED +en IgM heavy chain paraproteinemia HP:0020196 rdfs:label nl IgM heavy chain paraproteinemia NOT_TRANSLATED +en Ileal adenocarcinoma HP:0030412 rdfs:label nl Ileaal adenocarcinoom CANDIDATE +en Ileal atresia HP:0011102 rdfs:label nl Ileale atresie CANDIDATE +en Ileal ulcer HP:0032024 rdfs:label nl Ileal ulcer NOT_TRANSLATED +en Ileitis HP:0032564 rdfs:label nl Ileitis NOT_TRANSLATED +en Ileocecal ulcer HP:0033433 rdfs:label nl Ileocecal ulcer NOT_TRANSLATED +en Ileoileal intussusception HP:0033309 rdfs:label nl Ileoileal intussusception NOT_TRANSLATED +en Ileus HP:0002595 rdfs:label nl Ileus CANDIDATE +en Iliac arterial calcification HP:0031304 rdfs:label nl Arteria iliaca calcificatie CANDIDATE +en Iliac artery aneurysm HP:4000067 rdfs:label nl Iliac artery aneurysm NOT_TRANSLATED +en Iliac crest serration HP:0008786 rdfs:label nl Crista iliaca serratie CANDIDATE +en Iliac horns HP:0009780 rdfs:label nl Bekkenhoorntjes CANDIDATE +en Imbalanced hemoglobin synthesis HP:0005560 rdfs:label nl Onevenwichtige hemoglobine synthese CANDIDATE +en Immediate-type hypersensitivity drug reaction HP:0032378 rdfs:label nl Immediate-type hypersensitivity drug reaction NOT_TRANSLATED +en Immotile cilia HP:0012263 rdfs:label nl Immotiele cilia CANDIDATE +en Immotile sperm HP:0012208 rdfs:label nl Niet motiel sperma CANDIDATE +en Immune dysregulation HP:0002958 rdfs:label nl Immuundysregulatie CANDIDATE +en Immunodeficiency HP:0002721 rdfs:label nl Immuundeficiëntie CANDIDATE +en Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly HP:0030099 IAO:0000115 nl Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly NOT_TRANSLATED +en Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy HP:0030107 IAO:0000115 nl Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy HP:0030115 IAO:0000115 nl Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry reveals reduced emerin protein in the muscle biopsy HP:0030118 IAO:0000115 nl Immunohistochemistry reveals reduced emerin protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy HP:0030108 IAO:0000115 nl Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2) HP:0030122 IAO:0000115 nl Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2) NOT_TRANSLATED +en Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy HP:0030225 IAO:0000115 nl Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy HP:0030227 IAO:0000115 nl Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy HP:0030229 IAO:0000115 nl Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy HP:0030106 IAO:0000115 nl Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy HP:0030110 IAO:0000115 nl Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy HP:0030114 IAO:0000115 nl Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy HP:0030117 IAO:0000115 nl Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy NOT_TRANSLATED +en Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy HP:0030109 IAO:0000115 nl Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy NOT_TRANSLATED +en Immunologic hypersensitivity HP:0100326 rdfs:label nl Immunologische overgevoeligheid CANDIDATE +en Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens HP:0100326 IAO:0000115 nl Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens NOT_TRANSLATED +en Impacted cerumen HP:0030788 rdfs:label nl Geïmpacteerd cerumen CANDIDATE +en Impacted tooth HP:0011079 rdfs:label nl Geïmpacteerde tand CANDIDATE +en Impaired ADP-induced platelet aggregation HP:0004866 rdfs:label nl Verminderde ADP-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired Ig class switch recombination HP:0002959 rdfs:label nl Verminderde Ig class switch recombinatie CANDIDATE +en Impaired T cell function HP:0005435 rdfs:label nl Verminderde T cel functie CANDIDATE +en Impaired ability to absorb one or more nutrients from the intestine HP:0002024 IAO:0000115 nl Impaired ability to absorb one or more nutrients from the intestine NOT_TRANSLATED +en Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity HP:0033055 IAO:0000115 nl Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity NOT_TRANSLATED +en Impaired ability to bathe oneself HP:0031059 rdfs:label nl Verminderd vermogen om zich te wassen CANDIDATE +en Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine HP:0033056 IAO:0000115 nl Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine NOT_TRANSLATED +en Impaired ability to dress oneself HP:0031060 rdfs:label nl Verminderd vermogen om zich te kleden CANDIDATE +en Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it HP:0011968 IAO:0000115 nl Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it NOT_TRANSLATED +en Impaired ability to form peer relationships HP:0000728 rdfs:label nl Verminderde capaciteit om peer relaties te vormen CANDIDATE +en Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal HP:0033071 IAO:0000115 nl Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal NOT_TRANSLATED +en Impaired ability to organize HP:0033056 rdfs:label nl Impaired ability to organize NOT_TRANSLATED +en Impaired ability to plan HP:0033055 rdfs:label nl Impaired ability to plan NOT_TRANSLATED +en Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination) HP:0011812 IAO:0000115 nl Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination) NOT_TRANSLATED +en Impaired ability to remember facts and events HP:0033692 IAO:0000115 nl Impaired ability to remember facts and events NOT_TRANSLATED +en Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory HP:0002526 IAO:0000115 nl Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory NOT_TRANSLATED +en Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory HP:0002549 IAO:0000115 nl Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory NOT_TRANSLATED +en Impaired ability to shift attention HP:0033360 rdfs:label nl Impaired ability to shift attention NOT_TRANSLATED +en Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior HP:0033070 IAO:0000115 nl Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior NOT_TRANSLATED +en Impaired annexin V binding to platelet phosphatidylserine HP:0031132 rdfs:label nl Impaired annexin V binding to platelet phosphatidylserine NOT_TRANSLATED +en Impaired antigen-specific response HP:0031404 rdfs:label nl Impaired antigen-specific response NOT_TRANSLATED +en Impaired arachidonic acid-induced platelet aggregation HP:0011870 rdfs:label nl Verminderde arachidonzuur-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired binding of factor VIII to VWF HP:0040237 rdfs:label nl Verminderde binding van factor VIII aan VWF CANDIDATE +en Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay HP:0040237 IAO:0000115 nl Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay NOT_TRANSLATED +en Impaired calcium ionophore-induced platelet aggregation HP:0031130 rdfs:label nl Impaired calcium ionophore-induced platelet aggregation NOT_TRANSLATED +en Impaired clot retraction HP:0031126 rdfs:label nl Verminderde stolselretractie CANDIDATE +en Impaired collagen-induced platelet aggregation HP:0008320 rdfs:label nl Verminderde collageen-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired collagen-related peptide-induced platelet aggregation HP:0031128 rdfs:label nl Verminderde collageen-gerelateerd-eiwit-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway HP:0012722 IAO:0000115 nl Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway NOT_TRANSLATED +en Impaired continence HP:0031064 rdfs:label nl Verminderde continentie CANDIDATE +en Impaired convergence HP:0000619 rdfs:label nl Verminderde convergentie CANDIDATE +en Impaired convulxin-induced platelet aggregation HP:0031127 rdfs:label nl Verminderde convulxine-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired cortisol response to corticotropin releasing hormone stimulation test HP:0031078 rdfs:label nl Verminderde cortisol reactie op corticotropine-releasing-hormoon stimulatie test CANDIDATE +en Impaired cortisol response to glucagon stimulation test HP:0031081 rdfs:label nl Verminderde cortisol reactie op glucagon stimulatie test CANDIDATE +en Impaired cortisol response to insulin stimulation test HP:0031076 rdfs:label nl Verminderde cortisol reactie op insuline stimulatie test CANDIDATE +en Impaired cytokine signaling HP:0031407 rdfs:label nl Verminderde cytokine signalering CANDIDATE +en Impaired distal proprioception HP:0006858 rdfs:label nl Verminderde distale proprioceptie CANDIDATE +en Impaired distal tactile sensation HP:0006937 rdfs:label nl Verminderde distale tastzin CANDIDATE +en Impaired distal vibration sensation HP:0006886 rdfs:label nl Verminderde distale tastzin CANDIDATE +en Impaired egress of mature neutrophils from bone marrow causing neutropenia HP:0031160 IAO:0000115 nl Impaired egress of mature neutrophils from bone marrow causing neutropenia NOT_TRANSLATED +en Impaired epinephrine-induced platelet aggregation HP:0008148 rdfs:label nl Verminderde epinefrine-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired executive functioning HP:0033051 rdfs:label nl Impaired executive functioning NOT_TRANSLATED +en Impaired fasting glucose HP:0025691 rdfs:label nl Impaired fasting glucose NOT_TRANSLATED +en Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG HP:0025691 IAO:0000115 nl Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG NOT_TRANSLATED +en Impaired feeding ability HP:0031063 rdfs:label nl Verminderd vermogen om te eten CANDIDATE +en Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention HP:0008872 IAO:0000115 nl Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention NOT_TRANSLATED +en Impaired flow-mediated arterial dilatation HP:0032654 rdfs:label nl Impaired flow-mediated arterial dilatation NOT_TRANSLATED +en Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes HP:0001738 IAO:0000115 nl Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes NOT_TRANSLATED +en Impaired gluconeogenesis HP:0005959 rdfs:label nl Verminderde gluconeogenese CANDIDATE +en Impaired glucose tolerance HP:0040270 rdfs:label nl Verminderde glucose tolerantie CANDIDATE +en Impaired growth-hormone response to glucagon stimulation test HP:0031082 rdfs:label nl Verminderde groeihormoon reactie op glucagon stimulatie test CANDIDATE +en Impaired growth-hormone response to insulin stimulation test HP:0031079 rdfs:label nl Verminderde groeihormoon reactie op insuline stimulatie test CANDIDATE +en Impaired heel-walking ability HP:6000490 rdfs:label nl Verminderd vermogen om met de hiel te lopen OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Impaired histidine renal tubular absorption HP:0008666 rdfs:label nl Verstoorde renale tubulaire absorptie van histidine CANDIDATE +en Impaired horizontal smooth pursuit HP:0001151 rdfs:label nl Vertraagde horizontale gladde vervolging CANDIDATE +en Impaired leukocyte adhesion HP:0033798 rdfs:label nl Impaired leukocyte adhesion NOT_TRANSLATED +en Impaired lymphocyte transformation with phytohemagglutinin HP:0003347 rdfs:label nl Verminderde lymfocyt transformatie met fytohemagglutinine CANDIDATE +en Impaired mastication HP:0005216 rdfs:label nl Problemen met kauwen CANDIDATE +en Impaired memory B cell generation HP:0002847 rdfs:label nl Verminderde geheugen B-cel productie CANDIDATE +en Impaired myocardial contractility HP:0006670 rdfs:label nl Verminderde myocardiale contractiliteit CANDIDATE +en Impaired nasal mucociliary clearance HP:0031603 rdfs:label nl Verminderde nasale mucociliaire klaring CANDIDATE +en Impaired neck-righting reflex HP:0033330 rdfs:label nl Impaired neck-righting reflex NOT_TRANSLATED +en Impaired neutrophil bactericidal activity HP:0011993 rdfs:label nl Verminderde neutrofiele bactericide activiteit CANDIDATE +en Impaired neutrophil chemotaxis HP:0040238 rdfs:label nl Verminderde neutrofiele chemotaxis CANDIDATE +en Impaired neutrophil killing of staphylococci HP:0005512 rdfs:label nl Verminderde doding van stafylokokken door neutrofielen CANDIDATE +en Impaired ocular abduction HP:0000634 rdfs:label nl Verminderde oculaire abductie CANDIDATE +en Impaired ocular adduction HP:0000542 rdfs:label nl Verzwakte oculaire adductie CANDIDATE +en Impaired oral bolus formation HP:0031146 rdfs:label nl Impaired oral bolus formation NOT_TRANSLATED +en Impaired oropharyngeal swallow response HP:0031162 rdfs:label nl Impaired oropharyngeal swallow response NOT_TRANSLATED +en Impaired oxidative burst HP:0003203 rdfs:label nl Negatieve nitroblauwtetrazolium reductie test CANDIDATE +en Impaired pain sensation HP:0007328 rdfs:label nl Verminderde pijn sensatie CANDIDATE +en Impaired pathogen-specific CD8 cytoxicity HP:0031403 rdfs:label nl Impaired pathogen-specific CD8 cytoxicity NOT_TRANSLATED +en Impaired phorbol myristate acetate-induced platelet aggregation HP:0031129 rdfs:label nl Impaired phorbol myristate acetate-induced platelet aggregation NOT_TRANSLATED +en Impaired platelet adhesion HP:0008352 rdfs:label nl Verminderde bloedplaatjes hechting CANDIDATE +en Impaired platelet aggregation HP:0003540 rdfs:label nl Verminderde bloedplaatjes aggregatie CANDIDATE +en Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge HP:0002847 IAO:0000115 nl Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge NOT_TRANSLATED +en Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus HP:0031402 IAO:0000115 nl Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus NOT_TRANSLATED +en Impaired proprioception HP:0010831 rdfs:label nl Verminderde proprioceptie CANDIDATE +en Impaired pursuit initiation and maintenance HP:0007668 rdfs:label nl Verminderde volg initiatie en volhouden CANDIDATE +en Impaired renal concentrating ability HP:0004727 rdfs:label nl Verminderd renaal concentrerend vermogen CANDIDATE +en Impaired renal ltubular reabsorption of chloride HP:0005579 rdfs:label nl Verminderde reabsorptie van chloride CANDIDATE +en Impaired renal tubular reabsorption of bicarbonate HP:4000010 rdfs:label nl Impaired renal tubular reabsorption of bicarbonate NOT_TRANSLATED +en Impaired renal tubular reabsorption of glucose HP:0034357 rdfs:label nl Impaired renal tubular reabsorption of glucose NOT_TRANSLATED +en Impaired renal tubular reabsorption of low molecular weight protein HP:0034356 rdfs:label nl Impaired renal tubular reabsorption of low molecular weight protein NOT_TRANSLATED +en Impaired renal tubular reabsorption of magnesium HP:0033759 rdfs:label nl Impaired renal tubular reabsorption of magnesium NOT_TRANSLATED +en Impaired renal tubular reabsorption of phosphate HP:0034359 rdfs:label nl Impaired renal tubular reabsorption of phosphate NOT_TRANSLATED +en Impaired renal tubular reabsorption of sodium HP:0034358 rdfs:label nl Impaired renal tubular reabsorption of sodium NOT_TRANSLATED +en Impaired renal tubular reabsorption of uric acid HP:0033774 rdfs:label nl Impaired renal tubular reabsorption of uric acid NOT_TRANSLATED +en Impaired renal uric acid clearance HP:0004732 rdfs:label nl Verminderde renale urinezurr klaring CANDIDATE +en Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors HP:0031403 IAO:0000115 nl Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors NOT_TRANSLATED +en Impaired ristocetin cofactor assay activity HP:0030129 rdfs:label nl Gestoorde ristocetine cofactor assay activiteit CANDIDATE +en Impaired ristocetin-induced platelet aggregation HP:0011871 rdfs:label nl Verminderde ristocetine-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired self monitoring HP:0033070 rdfs:label nl Impaired self monitoring NOT_TRANSLATED +en Impaired sensitivity to thyroid hormone HP:0002930 rdfs:label nl Schildklier hormoon receptor defect CANDIDATE +en Impaired sensitivity to thyroid stimulating hormone HP:0011789 rdfs:label nl Thyreoïdstimulerend hormoon receptor defect CANDIDATE +en Impaired smooth pursuit HP:0007772 rdfs:label nl Verminderde soepele volgbewegingen CANDIDATE +en Impaired social interactions HP:0000735 rdfs:label nl Verminderde sociale interacties CANDIDATE +en Impaired social reciprocity HP:0012760 rdfs:label nl Verminderde sociale reciprociteit CANDIDATE +en Impaired stimulus-induced skin wrinkling HP:0030331 rdfs:label nl Impaired stimulus-induced skin wrinkling NOT_TRANSLATED +en Impaired tactile sensation HP:0010830 rdfs:label nl Verminderde tastzin CANDIDATE +en Impaired tandem gait HP:0031629 rdfs:label nl Impaired tandem gait NOT_TRANSLATED +en Impaired task monitoring HP:0033071 rdfs:label nl Impaired task monitoring NOT_TRANSLATED +en Impaired temperature sensation HP:0010829 rdfs:label nl Verminderde temperatuur sensatie CANDIDATE +en Impaired thrombin-induced platelet aggregation HP:0011872 rdfs:label nl Verminderde trombine-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired thromboxane A2 agonist-induced platelet aggregation HP:0011894 rdfs:label nl Verminderde tromboxaan A2-agonist-geïnduceerde bloedplaatjesaggregatie CANDIDATE +en Impaired toe-walking ability HP:0034052 rdfs:label nl Impaired toe-walking ability NOT_TRANSLATED +en Impaired toileting ability HP:0031061 rdfs:label nl Verminderd vermogen om naar het toilet te gaan CANDIDATE +en Impaired touch localization HP:0011811 rdfs:label nl Verstoorde lokalisatie van aanraking CANDIDATE +en Impaired transferring ability HP:0031062 rdfs:label nl Verminderd vermogen om over te stappen CANDIDATE +en Impaired two-point discrimination HP:0011810 rdfs:label nl Verstoorde twee-puntsdiscriminatie CANDIDATE +en Impaired urinary acidification HP:0031033 rdfs:label nl Impaired urinary acidification NOT_TRANSLATED +en Impaired vibration sensation at ankles HP:0006938 rdfs:label nl Verminderde vibratiezin bij enkels CANDIDATE +en Impaired vibration sensation in the lower limbs HP:0002166 rdfs:label nl Verstoorde vibratiezin van de onderste ledematen CANDIDATE +en Impaired vibratory sensation HP:0002495 rdfs:label nl Verminderde vibratiezin CANDIDATE +en Impaired visually enhanced vestibulo-ocular reflex HP:0030183 rdfs:label nl Verminderde visueel verbeterde vestibulo-oculaire reflex CANDIDATE +en Impaired visuospatial constructive cognition HP:0010794 rdfs:label nl Verminderde visueel-spatiële constructieve cognitie CANDIDATE +en Impaired von Willebrand factor collagen binding activity HP:0030130 rdfs:label nl Verminderde von Willibrand-factor collageen bindende activiteit CANDIDATE +en Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5 HP:4000082 IAO:0000115 nl Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5 NOT_TRANSLATED +en Impairment in personality functioning HP:0031466 rdfs:label nl Stoornis in functioneren van persoonlijkheid CANDIDATE +en Impairment in the physical production of speech sounds HP:0009088 IAO:0000115 nl Impairment in the physical production of speech sounds NOT_TRANSLATED +en Impairment of activities of daily living HP:0031058 rdfs:label nl Stoornis van activiteiten van dagelijks leven CANDIDATE +en Impairment of bile flow due to obstruction in bile ducts HP:0001396 IAO:0000115 nl Impairment of bile flow due to obstruction in bile ducts NOT_TRANSLATED +en Impairment of bile flow due to obstruction in large bile ducts outside the liver HP:0012334 IAO:0000115 nl Impairment of bile flow due to obstruction in large bile ducts outside the liver NOT_TRANSLATED +en Impairment of bile flow due to obstruction in the small bile ducts within the liver HP:0001406 IAO:0000115 nl Impairment of bile flow due to obstruction in the small bile ducts within the liver NOT_TRANSLATED +en Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence HP:0001328 IAO:0000115 nl Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence NOT_TRANSLATED +en Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it HP:0002427 IAO:0000115 nl Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it NOT_TRANSLATED +en Impairment of fructose metabolism HP:0011033 rdfs:label nl Stoornis in fructose metabolisme CANDIDATE +en Impairment of galactose metabolism HP:0004915 rdfs:label nl Stoornis in galactose metabolisme CANDIDATE +en Impairment of the reflex of the tensor tympani muscle HP:0040123 rdfs:label nl Aantasting van de reflex van de musculus tensor tympani CANDIDATE +en Impairment of the the acoustic reflex HP:0040122 rdfs:label nl Verslechtering van de akoestische reflex CANDIDATE +en Imperfect vocal cord adduction HP:0005934 rdfs:label nl Onvolmaakte adductie van stembanden CANDIDATE +en Imperforate atrioventricular valve HP:0011574 rdfs:label nl Imperforate atrioventricular valve NOT_TRANSLATED +en Imperforate hymen HP:0030011 rdfs:label nl Hymen imperforatus CANDIDATE +en Imperforate tricuspid valve HP:0011575 rdfs:label nl Imperforate tricuspid valve NOT_TRANSLATED +en Impotence HP:0000802 rdfs:label nl Impotentie CANDIDATE +en Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system HP:0008652 IAO:0000115 nl Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system NOT_TRANSLATED +en Imprinted HP:0034338 rdfs:label nl Imprinted NOT_TRANSLATED +en Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor HP:0030202 IAO:0000115 nl Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor NOT_TRANSLATED +en Impulsivity HP:0100710 rdfs:label nl Impulsiviteit CANDIDATE +en In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric HP:0031582 IAO:0000115 nl In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric NOT_TRANSLATED +en In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower HP:0040324 IAO:0000115 nl In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower NOT_TRANSLATED +en In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc HP:0032443 IAO:0000115 nl In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc NOT_TRANSLATED +en In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential HP:0045089 IAO:0000115 nl In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential NOT_TRANSLATED +en In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential HP:0045090 IAO:0000115 nl In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential NOT_TRANSLATED +en In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) HP:0010440 IAO:0000115 nl In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) NOT_TRANSLATED +en In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) HP:0010441 IAO:0000115 nl In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200) NOT_TRANSLATED +en In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays HP:0010014 IAO:0000115 nl In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays NOT_TRANSLATED +en In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux HP:0010126 IAO:0000115 nl In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux NOT_TRANSLATED +en In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone HP:0010125 IAO:0000115 nl In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone NOT_TRANSLATED +en In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest HP:0011537 IAO:0000115 nl In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest NOT_TRANSLATED +en In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms HP:0000239 IAO:0000115 nl In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms NOT_TRANSLATED +en In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits HP:0032986 IAO:0000115 nl In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits NOT_TRANSLATED +en In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss HP:0000362 IAO:0000115 nl In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss NOT_TRANSLATED +en In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient HP:0011477 IAO:0000115 nl In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient NOT_TRANSLATED +en In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation HP:0032381 IAO:0000115 nl In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation NOT_TRANSLATED +en In situ pulmonary artery thrombosis HP:0033577 rdfs:label nl In situ pulmonary artery thrombosis NOT_TRANSLATED +en In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria HP:0003203 IAO:0000115 nl In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria NOT_TRANSLATED +en In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse HP:0033113 IAO:0000115 nl In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse NOT_TRANSLATED +en In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger HP:0001181 IAO:0000115 nl In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger NOT_TRANSLATED +en In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal HP:0001667 IAO:0000115 nl In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal NOT_TRANSLATED +en In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals HP:0005863 IAO:0000115 nl In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals NOT_TRANSLATED +en In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion HP:0002635 IAO:0000115 nl In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion NOT_TRANSLATED +en In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences HP:0001643 IAO:0000115 nl In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences NOT_TRANSLATED +en In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment HP:0030666 IAO:0000115 nl In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment NOT_TRANSLATED +en Inability of a male to reach orgasm HP:0040308 IAO:0000115 nl Inability of a male to reach orgasm NOT_TRANSLATED +en Inability of individual to reach orgasm HP:0046502 IAO:0000115 nl Inability of individual to reach orgasm NOT_TRANSLATED +en Inability of the heart to increase its rate commensurate with increased activity or demand HP:0033992 IAO:0000115 nl Inability of the heart to increase its rate commensurate with increased activity or demand NOT_TRANSLATED +en Inability of the kidneys to produce either concentrated or dilute urine HP:0030036 IAO:0000115 nl Inability of the kidneys to produce either concentrated or dilute urine NOT_TRANSLATED +en Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole HP:0005162 IAO:0000115 nl Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole NOT_TRANSLATED +en Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech HP:0000220 IAO:0000115 nl Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech NOT_TRANSLATED +en Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status HP:0025156 IAO:0000115 nl Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status NOT_TRANSLATED +en Inability to completely empty the urinary bladder during the process of urination HP:0000016 IAO:0000115 nl Inability to completely empty the urinary bladder during the process of urination NOT_TRANSLATED +en Inability to detect any qualitative olfactory sensation HP:0010632 IAO:0000115 nl Inability to detect any qualitative olfactory sensation NOT_TRANSLATED +en Inability to develop or maintain an erection of the penis HP:0000802 IAO:0000115 nl Inability to develop or maintain an erection of the penis NOT_TRANSLATED +en Inability to ejaculate HP:0012879 IAO:0000115 nl Inability to ejaculate NOT_TRANSLATED +en Inability to elicit biceps tendon reflex HP:0033230 IAO:0000115 nl Inability to elicit biceps tendon reflex NOT_TRANSLATED +en Inability to elicit brachioradialis tendon reflex HP:0033229 IAO:0000115 nl Inability to elicit brachioradialis tendon reflex NOT_TRANSLATED +en Inability to elicit tendon reflexes in the lower limbs HP:0002522 IAO:0000115 nl Inability to elicit tendon reflexes in the lower limbs NOT_TRANSLATED +en Inability to elicit tendon reflexes in the upper limbs HP:0012046 IAO:0000115 nl Inability to elicit tendon reflexes in the upper limbs NOT_TRANSLATED +en Inability to elicit triceps tendon reflex HP:0033228 IAO:0000115 nl Inability to elicit triceps tendon reflex NOT_TRANSLATED +en Inability to experience pleasure activities usually found enjoyable HP:0012154 IAO:0000115 nl Inability to experience pleasure activities usually found enjoyable NOT_TRANSLATED +en Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition HP:0033994 IAO:0000115 nl Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition NOT_TRANSLATED +en Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily HP:0002304 IAO:0000115 nl Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily NOT_TRANSLATED +en Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities HP:0033411 IAO:0000115 nl Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities NOT_TRANSLATED +en Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities HP:0033412 IAO:0000115 nl Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities NOT_TRANSLATED +en Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head HP:0011515 IAO:0000115 nl Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head NOT_TRANSLATED +en Inability to move the muscles of respiration HP:0002203 IAO:0000115 nl Inability to move the muscles of respiration NOT_TRANSLATED +en Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) HP:0010633 IAO:0000115 nl Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) NOT_TRANSLATED +en Inability to perceive painful stimuli HP:0007021 IAO:0000115 nl Inability to perceive painful stimuli NOT_TRANSLATED +en Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects HP:0032588 IAO:0000115 nl Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects NOT_TRANSLATED +en Inability to react to a delayed hypersensitivity skin test HP:0002965 IAO:0000115 nl Inability to react to a delayed hypersensitivity skin test NOT_TRANSLATED +en Inability to recognize faces of familiar persons HP:0010528 IAO:0000115 nl Inability to recognize faces of familiar persons NOT_TRANSLATED +en Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions HP:0010524 IAO:0000115 nl Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions NOT_TRANSLATED +en Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit HP:0010527 IAO:0000115 nl Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit NOT_TRANSLATED +en Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia HP:0033690 IAO:0000115 nl Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia NOT_TRANSLATED +en Inability to see well at night or in poor light HP:0000662 IAO:0000115 nl Inability to see well at night or in poor light NOT_TRANSLATED +en Inability to see well at night or in poor light with onset in adulthood HP:0007830 IAO:0000115 nl Inability to see well at night or in poor light with onset in adulthood NOT_TRANSLATED +en Inability to sweat HP:0000970 IAO:0000115 nl Inability to sweat NOT_TRANSLATED +en Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome HP:0007451 IAO:0000115 nl Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome NOT_TRANSLATED +en Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation HP:0034217 IAO:0000115 nl Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation NOT_TRANSLATED +en Inability to walk HP:0002540 rdfs:label nl Onvermogen om te lopen CANDIDATE +en Inability to walk by childhood/adolescence HP:0006915 rdfs:label nl Onvermogen om te lopen tijdens jeugd/adolescentie CANDIDATE +en Inability to walk in a person who previous had the ability to walk HP:0002505 IAO:0000115 nl Inability to walk in a person who previous had the ability to walk NOT_TRANSLATED +en Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction HP:0032015 IAO:0000115 nl Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction NOT_TRANSLATED +en Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction HP:0032014 IAO:0000115 nl Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction NOT_TRANSLATED +en Inactivating thyroid-stimulating hormone receptor defect HP:0011791 rdfs:label nl Geinactiveerd thyreoïdstimulerend hormoon receptor defect CANDIDATE +en Inappropriate absence of fever HP:0033104 rdfs:label nl Inappropriate absence of fever NOT_TRANSLATED +en Inappropriate antidiuretic hormone secretion HP:0031218 rdfs:label nl Ongepaste secretie van antidiuretisch hormoon CANDIDATE +en Inappropriate behavior HP:0000719 rdfs:label nl Ongepast gedrag CANDIDATE +en Inappropriate crying HP:0030215 rdfs:label nl Ongepast huilen CANDIDATE +en Inappropriate laughter HP:0000748 rdfs:label nl Ongepast gelach CANDIDATE +en Inappropriate sexual behavior HP:0008768 rdfs:label nl Ongepast seksueelgedrag CANDIDATE +en Inappropriate sinus tachycardia HP:0040182 rdfs:label nl Ongepaste sinus tachycardie CANDIDATE +en Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands HP:0040182 IAO:0000115 nl Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands NOT_TRANSLATED +en Inappropriate use of words that have no phonological or semantic similarity to the intended word HP:4000074 IAO:0000115 nl Inappropriate use of words that have no phonological or semantic similarity to the intended word NOT_TRANSLATED +en Inappropriately normal thyroid-stimulating hormone level HP:0033075 rdfs:label nl Inappropriately normal thyroid-stimulating hormone level NOT_TRANSLATED +en Incapability to ambulate HP:0002540 IAO:0000115 nl Incapability to ambulate NOT_TRANSLATED +en Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing HP:0030842 IAO:0000115 nl Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing NOT_TRANSLATED +en Incisional hernia HP:0004872 rdfs:label nl Littekenbreuk CANDIDATE +en Incisor macrodontia HP:0011081 rdfs:label nl Macrodontie van snijtand CANDIDATE +en Incisor teeth with irregular edges said to resemble a saw HP:0034270 IAO:0000115 nl Incisor teeth with irregular edges said to resemble a saw NOT_TRANSLATED +en Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view HP:0000340 IAO:0000115 nl Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view NOT_TRANSLATED +en Inclusion body fibromatosis HP:0025197 rdfs:label nl Inclusielichaampjes fibromatose CANDIDATE +en Incomitant strabismus HP:0025068 rdfs:label nl Incomitant strabismus CANDIDATE +en Incomplete breech presentation HP:0010861 rdfs:label nl Half onvolkomen stuitligging presentatie CANDIDATE +en Incomplete cleft of the upper lip HP:0011340 rdfs:label nl Incomplete schisis van bovenlip CANDIDATE +en Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele HP:0002414 IAO:0000115 nl Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele NOT_TRANSLATED +en Incomplete congenital stationary night blindness HP:0030641 rdfs:label nl Incomplete congenital stationary night blindness NOT_TRANSLATED +en Incomplete duplication of the ureter HP:0030037 IAO:0000115 nl Incomplete duplication of the ureter NOT_TRANSLATED +en Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema HP:0011373 IAO:0000115 nl Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema NOT_TRANSLATED +en Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin HP:0011323 IAO:0000115 nl Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin NOT_TRANSLATED +en Incomplete male pseudohermaphroditism HP:0008656 rdfs:label nl Onvolledig mannelijk pseudohermafroditisme CANDIDATE +en Incomplete maturation or aberrant formation of the male gametes HP:0008669 IAO:0000115 nl Incomplete maturation or aberrant formation of the male gametes NOT_TRANSLATED +en Incomplete ossification of palatine bone HP:0430012 rdfs:label nl Incomplete ossificatie van os palatinum CANDIDATE +en Incomplete ossification of pubis HP:0030042 rdfs:label nl Incomplete ossificatie van os pubis CANDIDATE +en Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation HP:0011374 IAO:0000115 nl Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation NOT_TRANSLATED +en Incomplete partition of the cochlea HP:0011373 rdfs:label nl Onvolledige partitie van het slakkenhuis CANDIDATE +en Incomplete partition of the cochlea type I HP:0011374 rdfs:label nl Onvolledige partitie van het slakkenhuis type I CANDIDATE +en Incomplete partition of the cochlea type II HP:0000376 rdfs:label nl Onvolledige partitie van het slakkenhuis type II CANDIDATE +en Incomplete right bundle branch block HP:6000313 rdfs:label nl Onvolledig rechter bundeltakblok OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Incomprehensible speech HP:0002546 rdfs:label nl Onbegrijpelijk spraak CANDIDATE +en Incoordination HP:0002311 rdfs:label nl Incoördinatie CANDIDATE +en Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms HP:0010871 IAO:0000115 nl Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms NOT_TRANSLATED +en Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem HP:0034405 IAO:0000115 nl Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem NOT_TRANSLATED +en Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol) HP:0033626 IAO:0000115 nl Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol) NOT_TRANSLATED +en Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response HP:0001340 IAO:0000115 nl Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response NOT_TRANSLATED +en Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone HP:0006174 IAO:0000115 nl Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone NOT_TRANSLATED +en Increase in bone density of the vertebral body HP:0100861 IAO:0000115 nl Increase in bone density of the vertebral body NOT_TRANSLATED +en Increase in bulk of the ala nasi HP:0009928 IAO:0000115 nl Increase in bulk of the ala nasi NOT_TRANSLATED +en Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment HP:0033261 IAO:0000115 nl Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment NOT_TRANSLATED +en Increase in diameter of the veins located underneath the skin of the abdomen HP:0030168 IAO:0000115 nl Increase in diameter of the veins located underneath the skin of the abdomen NOT_TRANSLATED +en Increase in mass of the tunica media of the arteries in the pulmonary circulation HP:0004964 IAO:0000115 nl Increase in mass of the tunica media of the arteries in the pulmonary circulation NOT_TRANSLATED +en Increase in periorbital soft tissue HP:0000629 IAO:0000115 nl Increase in periorbital soft tissue NOT_TRANSLATED +en Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve HP:0012645 IAO:0000115 nl Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve NOT_TRANSLATED +en Increase in size of one or more joints HP:0003037 IAO:0000115 nl Increase in size of one or more joints NOT_TRANSLATED +en Increase in size of one or more mesenteric lymph nodes HP:0025043 IAO:0000115 nl Increase in size of one or more mesenteric lymph nodes NOT_TRANSLATED +en Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata HP:0002280 IAO:0000115 nl Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata NOT_TRANSLATED +en Increase in size of the folds of skin between the outer labia HP:0008683 IAO:0000115 nl Increase in size of the folds of skin between the outer labia NOT_TRANSLATED +en Increase in size of the hippocampus HP:0100961 IAO:0000115 nl Increase in size of the hippocampus NOT_TRANSLATED +en Increase in size of the left atrium HP:0031295 IAO:0000115 nl Increase in size of the left atrium NOT_TRANSLATED +en Increase in size of the right atrium HP:0030718 IAO:0000115 nl Increase in size of the right atrium NOT_TRANSLATED +en Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat HP:0030812 IAO:0000115 nl Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat NOT_TRANSLATED +en Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin HP:0033246 IAO:0000115 nl Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin NOT_TRANSLATED +en Increase in the amount of air remaining in a person's lungs after full exhalation HP:0033251 IAO:0000115 nl Increase in the amount of air remaining in a person's lungs after full exhalation NOT_TRANSLATED +en Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine HP:0030270 IAO:0000115 nl Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine NOT_TRANSLATED +en Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy HP:0011432 IAO:0000115 nl Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy NOT_TRANSLATED +en Increase in the number of type II pneumocytes HP:0033328 IAO:0000115 nl Increase in the number of type II pneumocytes NOT_TRANSLATED +en Increase in the number or proportion of lymphocytes in the blood HP:0100827 IAO:0000115 nl Increase in the number or proportion of lymphocytes in the blood NOT_TRANSLATED +en Increase in the volume of bronchial artery wall due to the enlargement of its component cells HP:0033391 IAO:0000115 nl Increase in the volume of bronchial artery wall due to the enlargement of its component cells NOT_TRANSLATED +en Increase in thickness of the basement membrane of the tubulus of the kidney HP:0020132 IAO:0000115 nl Increase in thickness of the basement membrane of the tubulus of the kidney NOT_TRANSLATED +en Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region HP:0034347 IAO:0000115 nl Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region NOT_TRANSLATED +en Increase in thickness of the subpleural interstitium HP:0025178 IAO:0000115 nl Increase in thickness of the subpleural interstitium NOT_TRANSLATED +en Increase in width (breadth) of the radial metaphysis HP:0004026 IAO:0000115 nl Increase in width (breadth) of the radial metaphysis NOT_TRANSLATED +en Increase in width (breadth) of the ulnar metaphysis HP:0004047 IAO:0000115 nl Increase in width (breadth) of the ulnar metaphysis NOT_TRANSLATED +en Increase in width of the diaphysis of radius HP:0004031 IAO:0000115 nl Increase in width of the diaphysis of radius NOT_TRANSLATED +en Increase in width of the nasal tip HP:0000455 IAO:0000115 nl Increase in width of the nasal tip NOT_TRANSLATED +en Increase posterolateral protrusion of the tragus HP:0011271 IAO:0000115 nl Increase posterolateral protrusion of the tragus NOT_TRANSLATED +en Increased Arden ratio of electrooculogram HP:0031155 rdfs:label nl Increased Arden ratio of electrooculogram NOT_TRANSLATED +en Increased B cell count HP:0005404 rdfs:label nl Toename van B cellen CANDIDATE +en Increased Burr cell count HP:0032519 rdfs:label nl Increased Burr cell count NOT_TRANSLATED +en Increased C-peptide level HP:0030796 rdfs:label nl Toegenomen C-peptide niveau CANDIDATE +en Increased CD4:CD8 ratio HP:0033221 rdfs:label nl Increased CD4:CD8 ratio NOT_TRANSLATED +en Increased CSF L-alloisoleucine concentration HP:0034462 rdfs:label nl Increased CSF L-alloisoleucine concentration NOT_TRANSLATED +en Increased CSF N-acetylaspartic acid concentration HP:0032274 rdfs:label nl Increased CSF N-acetylaspartic acid concentration NOT_TRANSLATED +en Increased CSF alanine concentration HP:0500233 rdfs:label nl Increased CSF alanine concentration NOT_TRANSLATED +en Increased CSF albumin concentration HP:0500239 rdfs:label nl Increased CSF albumin concentration NOT_TRANSLATED +en Increased CSF alpha-aminobutyrate concentration HP:0500248 rdfs:label nl Increased CSF alpha-aminobutyrate concentration NOT_TRANSLATED +en Increased CSF arginine concentration HP:0500203 rdfs:label nl Increased CSF arginine concentration NOT_TRANSLATED +en Increased CSF aspartate concentration HP:0500217 rdfs:label nl Increased CSF aspartate concentration NOT_TRANSLATED +en Increased CSF citrulline concentration HP:0500246 rdfs:label nl Increased CSF citrulline concentration NOT_TRANSLATED +en Increased CSF glutamate concentration HP:0500200 rdfs:label nl Increased CSF glutamate concentration NOT_TRANSLATED +en Increased CSF glutamine concentration HP:0500197 rdfs:label nl Increased CSF glutamine concentration NOT_TRANSLATED +en Increased CSF glycine concentration HP:0500230 rdfs:label nl Increased CSF glycine concentration NOT_TRANSLATED +en Increased CSF histidine concentration HP:0500236 rdfs:label nl Increased CSF histidine concentration NOT_TRANSLATED +en Increased CSF homocarnosine concentration HP:0500242 rdfs:label nl Increased CSF homocarnosine concentration NOT_TRANSLATED +en Increased CSF homovanillic acid concentration HP:0034201 rdfs:label nl Increased CSF homovanillic acid concentration NOT_TRANSLATED +en Increased CSF interferon alpha HP:0009709 rdfs:label nl Verhoogd liquor interferon-alfa CANDIDATE +en Increased CSF isoleucine concentration HP:0500193 rdfs:label nl Increased CSF isoleucine concentration NOT_TRANSLATED +en Increased CSF lactate HP:0002490 rdfs:label nl Verhoogd liquor actaat CANDIDATE +en Increased CSF leucine concentration HP:0500191 rdfs:label nl Increased CSF leucine concentration NOT_TRANSLATED +en Increased CSF lysine concentration HP:0500208 rdfs:label nl Increased CSF lysine concentration NOT_TRANSLATED +en Increased CSF methionine concentration HP:0500210 rdfs:label nl Increased CSF methionine concentration NOT_TRANSLATED +en Increased CSF ornithine concentration HP:0500244 rdfs:label nl Increased CSF ornithine concentration NOT_TRANSLATED +en Increased CSF phenylalanine concentration HP:0500223 rdfs:label nl Increased CSF phenylalanine concentration NOT_TRANSLATED +en Increased CSF protein concentration HP:0002922 rdfs:label nl Verhoogd liquor eiwit CANDIDATE +en Increased CSF serine concentration HP:0500227 rdfs:label nl Increased CSF serine concentration NOT_TRANSLATED +en Increased CSF taurine concentration HP:0034455 rdfs:label nl Increased CSF taurine concentration NOT_TRANSLATED +en Increased CSF threonine concentration HP:0500212 rdfs:label nl Increased CSF threonine concentration NOT_TRANSLATED +en Increased CSF tryptophan concentration HP:0500222 rdfs:label nl Increased CSF tryptophan concentration NOT_TRANSLATED +en Increased CSF tyrosine concentration HP:0500220 rdfs:label nl Increased CSF tyrosine concentration NOT_TRANSLATED +en Increased CSF uracil concentration HP:0034460 rdfs:label nl Increased CSF uracil concentration NOT_TRANSLATED +en Increased CSF urate concentration HP:0410199 rdfs:label nl Increased CSF urate concentration NOT_TRANSLATED +en Increased CSF valine concentration HP:0500187 rdfs:label nl Increased CSF valine concentration NOT_TRANSLATED +en Increased CSF/serum albumin ratio HP:0025459 rdfs:label nl Verhoogd liquor/serum albumine ratio CANDIDATE +en Increased DLCO HP:0045050 rdfs:label nl Toegenomen DLCO CANDIDATE +en Increased HDL cholesterol concentration HP:0012184 rdfs:label nl Toegenomen niveau van circulerende high-density-lipoproteïnen CANDIDATE +en Increased HDL2a concentration HP:0032420 rdfs:label nl Increased HDL2a concentration NOT_TRANSLATED +en Increased HDL2b concentration HP:0032424 rdfs:label nl Increased HDL2b concentration NOT_TRANSLATED +en Increased HDL3a concentration HP:0032428 rdfs:label nl Increased HDL3a concentration NOT_TRANSLATED +en Increased HDL3b concentration HP:0032430 rdfs:label nl Increased HDL3b concentration NOT_TRANSLATED +en Increased HDL3c concentration HP:0032432 rdfs:label nl Increased HDL3c concentration NOT_TRANSLATED +en Increased HbA2 hemoglobin HP:0045048 rdfs:label nl Verhoogd HbA2 hemoglobine CANDIDATE +en Increased KCO HP:0033373 rdfs:label nl Increased KCO NOT_TRANSLATED +en Increased LDL cholesterol concentration HP:0003141 rdfs:label nl Toegenomen niveau van circulerende low-density-lipoproteïnen CANDIDATE +en Increased LH response to gonadotropin-releasing hormone stimulation test HP:0031280 rdfs:label nl Toegenomen LH reactie op gonadotropine-releasing hormoon stimulatie test CANDIDATE +en Increased OCT-measured foveal thickness HP:0030618 rdfs:label nl Verhoogde foveale dikte gemeten met OCT CANDIDATE +en Increased OCT-measured macular thickness HP:0030608 rdfs:label nl Verhoogde macula dikte gemeten met OCT CANDIDATE +en Increased PIVKA-II HP:0045063 rdfs:label nl Verhoogd PIVKA-II CANDIDATE +en Increased QRS voltage HP:0025075 rdfs:label nl Toegenomen QRS voltage CANDIDATE +en Increased RBC distribution width HP:0031965 rdfs:label nl Increased RBC distribution width NOT_TRANSLATED +en Increased RIPA HP:0040241 rdfs:label nl Verhoogd RIPA CANDIDATE +en Increased T cell count HP:0100828 rdfs:label nl Toename van T cellen CANDIDATE +en Increased T3/T4 ratio HP:0012559 rdfs:label nl Verhoogde T3/T4 verhouding CANDIDATE +en Increased Tn-antigen level HP:0410372 rdfs:label nl Increased Tn-antigen level NOT_TRANSLATED +en Increased VLDL cholesterol concentration HP:0003362 rdfs:label nl Toegenomen circulerende very-low-density-lipoproteïnen niveaus CANDIDATE +en Increased Z-disc width HP:0033008 rdfs:label nl Increased Z-disc width NOT_TRANSLATED +en Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test HP:0045050 IAO:0000115 nl Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test NOT_TRANSLATED +en Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex HP:0011996 IAO:0000115 nl Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex NOT_TRANSLATED +en Increased activity of mitochondrial respiratory chain HP:0040015 rdfs:label nl Toegenomen activiteit van mitochondriale ademhalingsketen CANDIDATE +en Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X HP:0030977 IAO:0000115 nl Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X NOT_TRANSLATED +en Increased addition of fucose sugar units to N-linked glycans HP:0012354 IAO:0000115 nl Increased addition of fucose sugar units to N-linked glycans NOT_TRANSLATED +en Increased addition of fucose sugar units to O-linked glycans HP:0012361 IAO:0000115 nl Increased addition of fucose sugar units to O-linked glycans NOT_TRANSLATED +en Increased addition of mannose to N-linked glycans HP:0012357 IAO:0000115 nl Increased addition of mannose to N-linked glycans NOT_TRANSLATED +en Increased addition of sialic acids to N-linked glycans HP:0012351 IAO:0000115 nl Increased addition of sialic acids to N-linked glycans NOT_TRANSLATED +en Increased adiponectin level HP:0030686 rdfs:label nl Toegenomen adiponectine niveau CANDIDATE +en Increased adipose tissue HP:0009126 rdfs:label nl Toegenomen vetweefsel CANDIDATE +en Increased adipose tissue around the neck HP:0000468 rdfs:label nl Toegenomen vetweefsel rond de nek CANDIDATE +en Increased airway neuroendocrine cells HP:0033377 rdfs:label nl Increased airway neuroendocrine cells NOT_TRANSLATED +en Increased airway neuroepithelial bodies HP:0033378 rdfs:label nl Increased airway neuroepithelial bodies NOT_TRANSLATED +en Increased alkaline phosphatase measured within leukocytes HP:0008318 IAO:0000115 nl Increased alkaline phosphatase measured within leukocytes NOT_TRANSLATED +en Increased alpha-globulin HP:0005413 rdfs:label nl Verhoogd alfa-globuline CANDIDATE +en Increased alveolar volume HP:0033634 rdfs:label nl Increased alveolar volume NOT_TRANSLATED +en Increased amount of 3-methyl-2-oxovaleric acid in the urine HP:0033457 IAO:0000115 nl Increased amount of 3-methyl-2-oxovaleric acid in the urine NOT_TRANSLATED +en Increased amount of 4-methyl-2-oxopentanoic acid in the urine HP:0033458 IAO:0000115 nl Increased amount of 4-methyl-2-oxopentanoic acid in the urine NOT_TRANSLATED +en Increased amount of a keta acid in the urine HP:0033456 IAO:0000115 nl Increased amount of a keta acid in the urine NOT_TRANSLATED +en Increased amount of alpha-aminobutyric acid in the urine HP:0025631 IAO:0000115 nl Increased amount of alpha-aminobutyric acid in the urine NOT_TRANSLATED +en Increased amount of argininosuccinate in the urine HP:0025630 IAO:0000115 nl Increased amount of argininosuccinate in the urine NOT_TRANSLATED +en Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging HP:0030631 IAO:0000115 nl Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging NOT_TRANSLATED +en Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging HP:0025158 IAO:0000115 nl Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging NOT_TRANSLATED +en Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C HP:0003221 IAO:0000115 nl Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C NOT_TRANSLATED +en Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation HP:0010997 IAO:0000115 nl Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation NOT_TRANSLATED +en Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree HP:0033422 IAO:0000115 nl Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree NOT_TRANSLATED +en Increased amount of harderoporphyrin in the urine HP:0033627 IAO:0000115 nl Increased amount of harderoporphyrin in the urine NOT_TRANSLATED +en Increased amount of keratin (visible as white scales) surrounding hair follicles HP:0007468 IAO:0000115 nl Increased amount of keratin (visible as white scales) surrounding hair follicles NOT_TRANSLATED +en Increased amount of myelin in the central nervous system HP:0012754 IAO:0000115 nl Increased amount of myelin in the central nervous system NOT_TRANSLATED +en Increased amount of peripheral myelination HP:0030173 IAO:0000115 nl Increased amount of peripheral myelination NOT_TRANSLATED +en Increased amount of pigmentation in the fovea centralis HP:0008001 IAO:0000115 nl Increased amount of pigmentation in the fovea centralis NOT_TRANSLATED +en Increased amount of pigmentation in the macula lutea HP:0011509 IAO:0000115 nl Increased amount of pigmentation in the macula lutea NOT_TRANSLATED +en Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells HP:0031898 IAO:0000115 nl Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells NOT_TRANSLATED +en Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram HP:0032196 IAO:0000115 nl Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram NOT_TRANSLATED +en Increased amplitude (strength) of the pulse HP:0032555 IAO:0000115 nl Increased amplitude (strength) of the pulse NOT_TRANSLATED +en Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave HP:0025072 IAO:0000115 nl Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave NOT_TRANSLATED +en Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) HP:0030852 IAO:0000115 nl Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) NOT_TRANSLATED +en Increased amyloid beta 40 peptide CSF concentration HP:0025687 rdfs:label nl Increased amyloid beta 40 peptide CSF concentration NOT_TRANSLATED +en Increased amyloid beta 42 peptide CSF concentration HP:0025685 rdfs:label nl Increased amyloid beta 42 peptide CSF concentration NOT_TRANSLATED +en Increased annexin V binding to platelet phosphatidylserine HP:0031133 rdfs:label nl Increased annexin V binding to platelet phosphatidylserine NOT_TRANSLATED +en Increased anterioposterior diameter of thorax HP:0005253 rdfs:label nl Verhoogde anterioposterieure diameter van thorax CANDIDATE +en Increased anterior vertebral height HP:0004581 rdfs:label nl Verhoogde anterieure wervel hoogte CANDIDATE +en Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix HP:0008593 IAO:0000115 nl Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix NOT_TRANSLATED +en Increased anti-alpha-gal IgE antibody level HP:0410249 rdfs:label nl Increased anti-alpha-gal IgE antibody level NOT_TRANSLATED +en Increased anti-animal dander IgE antibody level HP:0410247 rdfs:label nl Increased anti-animal dander IgE antibody level NOT_TRANSLATED +en Increased anti-animal protein IgE antibody level HP:0410221 rdfs:label nl Increased anti-animal protein IgE antibody level NOT_TRANSLATED +en Increased anti-bacteria IgE antibody level HP:0410224 rdfs:label nl Increased anti-bacteria IgE antibody level NOT_TRANSLATED +en Increased anti-dairy protein IgE antibody level HP:0410220 rdfs:label nl Increased anti-dairy protein IgE antibody level NOT_TRANSLATED +en Increased anti-drug IgE antibody level HP:0410225 rdfs:label nl Increased anti-drug IgE antibody level NOT_TRANSLATED +en Increased anti-dust mite IgE antibody level HP:0410223 rdfs:label nl Increased anti-dust mite IgE antibody level NOT_TRANSLATED +en Increased anti-egg IgE antibody level HP:0410231 rdfs:label nl Increased anti-egg IgE antibody level NOT_TRANSLATED +en Increased anti-feather IgE antibody level HP:0410226 rdfs:label nl Increased anti-feather IgE antibody level NOT_TRANSLATED +en Increased anti-food allergen IgE antibody level HP:0410227 rdfs:label nl Increased anti-food allergen IgE antibody level NOT_TRANSLATED +en Increased anti-fungi IgE antibody level HP:0410232 rdfs:label nl Increased anti-fungi IgE antibody level NOT_TRANSLATED +en Increased anti-gluten IgE antibody level HP:0410229 rdfs:label nl Increased anti-gluten IgE antibody level NOT_TRANSLATED +en Increased anti-house dust mite IgE antibody level HP:0410248 rdfs:label nl Increased anti-house dust mite IgE antibody level NOT_TRANSLATED +en Increased anti-insect IgE antibody level HP:0410235 rdfs:label nl Increased anti-insect IgE antibody level NOT_TRANSLATED +en Increased anti-meat allergen IgE antibody level HP:0410233 rdfs:label nl Increased anti-meat allergen IgE antibody level NOT_TRANSLATED +en Increased anti-nut food product IgE antibody level HP:0410230 rdfs:label nl Increased anti-nut food product IgE antibody level NOT_TRANSLATED +en Increased anti-parasite IgE antibody level HP:0410234 rdfs:label nl Increased anti-parasite IgE antibody level NOT_TRANSLATED +en Increased anti-plant based food allergen IgE antibody level HP:0410228 rdfs:label nl Increased anti-plant based food allergen IgE antibody level NOT_TRANSLATED +en Increased anti-plant product IgE antibody level HP:0410238 rdfs:label nl Increased anti-plant product IgE antibody level NOT_TRANSLATED +en Increased anti-seafood IgE antibody level HP:0410222 rdfs:label nl Increased anti-seafood IgE antibody level NOT_TRANSLATED +en Increased anti-venom IgE antibody level HP:0410236 rdfs:label nl Increased anti-venom IgE antibody level NOT_TRANSLATED +en Increased antimullerian hormone level HP:0031102 rdfs:label nl Toegenomen Anti-Müller-Hormoon niveau CANDIDATE +en Increased antral follicle count HP:0033086 rdfs:label nl Increased antral follicle count NOT_TRANSLATED +en Increased aperture of the nostril HP:0009931 IAO:0000115 nl Increased aperture of the nostril NOT_TRANSLATED +en Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris HP:0032647 IAO:0000115 nl Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris NOT_TRANSLATED +en Increased arm span HP:0012771 rdfs:label nl Toegenomen spanwijdte CANDIDATE +en Increased aromatic amino acid level in urine HP:0033090 rdfs:label nl Increased aromatic amino acid level in urine NOT_TRANSLATED +en Increased aspartate family amino acid level in urine HP:0033096 rdfs:label nl Increased aspartate family amino acid level in urine NOT_TRANSLATED +en Increased axial length of the globe HP:0007800 rdfs:label nl Toegenomen axiale lengte van de oogbol CANDIDATE +en Increased back to front length of the foot HP:0001833 IAO:0000115 nl Increased back to front length of the foot NOT_TRANSLATED +en Increased basal tear production HP:0031732 rdfs:label nl Verhoogde basale traan productie CANDIDATE +en Increased basophil count HP:0031807 rdfs:label nl Increased basophil count NOT_TRANSLATED +en Increased biotinidase level HP:0410146 rdfs:label nl Increased biotinidase level NOT_TRANSLATED +en Increased blood concentration of vascular endothelial growth factor (VEGF) HP:0031052 IAO:0000115 nl Increased blood concentration of vascular endothelial growth factor (VEGF) NOT_TRANSLATED +en Increased blood drug concentration HP:0020170 rdfs:label nl Increased blood drug concentration NOT_TRANSLATED +en Increased blood folate concentration HP:0032164 rdfs:label nl Increased blood folate concentration NOT_TRANSLATED +en Increased blood pressure HP:0032263 rdfs:label nl Increased blood pressure NOT_TRANSLATED +en Increased blood pressure during a pregnancy HP:0008071 IAO:0000115 nl Increased blood pressure during a pregnancy NOT_TRANSLATED +en Increased blood urea nitrogen HP:0003138 rdfs:label nl Verhoogd bloed-ureum-stikstof CANDIDATE +en Increased body fat percentage HP:0025521 rdfs:label nl Toegenomen lichaamsvetpercentage CANDIDATE +en Increased body mass index HP:0031418 rdfs:label nl Verhoogde body mass index CANDIDATE +en Increased body weight HP:0004324 rdfs:label nl Toegenomen lichaamsgewicht CANDIDATE +en Increased body weight with a body mass index of 25-29.9 kg per square meter HP:0025502 IAO:0000115 nl Increased body weight with a body mass index of 25-29.9 kg per square meter NOT_TRANSLATED +en Increased bone density affecting the bones of the spine (vertebral column) HP:0004563 IAO:0000115 nl Increased bone density affecting the bones of the spine (vertebral column) NOT_TRANSLATED +en Increased bone density of the skull base without significant changes in bony contour HP:0002694 IAO:0000115 nl Increased bone density of the skull base without significant changes in bony contour NOT_TRANSLATED +en Increased bone density with cystic changes HP:0005700 rdfs:label nl Verhoogde botdichtheid met cysteuze veranderingen CANDIDATE +en Increased bone marrow iron HP:0034499 rdfs:label nl Increased bone marrow iron NOT_TRANSLATED +en Increased bone mineral density HP:0011001 rdfs:label nl Toegenomen botdichtheid CANDIDATE +en Increased breadth of the nasal bridge (and with it, the nasal root) HP:0000431 IAO:0000115 nl Increased breadth of the nasal bridge (and with it, the nasal root) NOT_TRANSLATED +en Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues HP:0012812 IAO:0000115 nl Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues NOT_TRANSLATED +en Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm HP:0033390 IAO:0000115 nl Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm NOT_TRANSLATED +en Increased cardiac index HP:0033530 rdfs:label nl Increased cardiac index NOT_TRANSLATED +en Increased cardiac output HP:0033533 rdfs:label nl Increased cardiac output NOT_TRANSLATED +en Increased carotid artery intimal medial thickness HP:0012273 rdfs:label nl Verhoogde arteria carotis intima media dikte CANDIDATE +en Increased carrying angle HP:0003102 rdfs:label nl Increased carrying angle NOT_TRANSLATED +en Increased caudate lactate level HP:0012644 rdfs:label nl Toegenomen lactaat niveau in nucleus caudatus CANDIDATE +en Increased cellular sensitivity to UV light HP:0003224 rdfs:label nl Verhoogde cellulaire gevoeligheid voor UV-licht CANDIDATE +en Increased cerebral lipofuscin HP:0011813 rdfs:label nl Toegenomen cerebraal lipofuscine CANDIDATE +en Increased circulating 17 hydroxypregnenolone concentration HP:0033809 rdfs:label nl Increased circulating 17 hydroxypregnenolone concentration NOT_TRANSLATED +en Increased circulating 18-hydroxycortisone level HP:0020200 rdfs:label nl Increased circulating 18-hydroxycortisone level NOT_TRANSLATED +en Increased circulating A-type natriuretic peptide level HP:0020183 rdfs:label nl Increased circulating A-type natriuretic peptide level NOT_TRANSLATED +en Increased circulating ACTH level HP:0003154 rdfs:label nl Toegenomen circulerend ACTH-niveau CANDIDATE +en Increased circulating IgA level HP:0003261 rdfs:label nl Verhoogd IgA niveau CANDIDATE +en Increased circulating IgD level HP:0410246 rdfs:label nl Increased circulating IgD level NOT_TRANSLATED +en Increased circulating IgE level HP:0003212 rdfs:label nl Verhoogde IgE niveau CANDIDATE +en Increased circulating IgG level HP:0003237 rdfs:label nl Verhoogd IgG niveau CANDIDATE +en Increased circulating IgG subclass HP:0032296 rdfs:label nl Increased circulating IgG subclass NOT_TRANSLATED +en Increased circulating IgG1 level HP:0032298 rdfs:label nl Increased circulating IgG1 level NOT_TRANSLATED +en Increased circulating IgG2 level HP:0032299 rdfs:label nl Increased circulating IgG2 level NOT_TRANSLATED +en Increased circulating IgG3 level HP:0032297 rdfs:label nl Increased circulating IgG3 level NOT_TRANSLATED +en Increased circulating IgG4 level HP:0032300 rdfs:label nl Increased circulating IgG4 level NOT_TRANSLATED +en Increased circulating IgM level HP:0003496 rdfs:label nl Verhoogd IgM-niveau CANDIDATE +en Increased circulating Interferon-alpha concentration HP:0034513 rdfs:label nl Increased circulating Interferon-alpha concentration NOT_TRANSLATED +en Increased circulating N-Acetylaspartic acid concentration HP:0032273 rdfs:label nl Increased circulating N-Acetylaspartic acid concentration NOT_TRANSLATED +en Increased circulating NT-proBNP concentration HP:0031185 rdfs:label nl Verhoogd NT-proBNP niveau CANDIDATE +en Increased circulating T4 concentration HP:0031506 rdfs:label nl Toegenomen circulerend thyroxine niveau CANDIDATE +en Increased circulating adrenic acid concentration HP:0020158 rdfs:label nl Increased circulating adrenic acid concentration NOT_TRANSLATED +en Increased circulating androgen concentration HP:0030348 rdfs:label nl Toegenomen circulerend androgeen-niveau CANDIDATE +en Increased circulating androstenedione concentration HP:0025380 rdfs:label nl Verhoogd serum androstenedione CANDIDATE +en Increased circulating antibody level HP:0010702 rdfs:label nl Verhoogd antistoffen niveau in bloed CANDIDATE +en Increased circulating apolipoprotein circulation HP:0033460 rdfs:label nl Increased circulating apolipoprotein circulation NOT_TRANSLATED +en Increased circulating arachidonic acid concentration HP:0020197 rdfs:label nl Increased circulating arachidonic acid concentration NOT_TRANSLATED +en Increased circulating argininosuccinic acid HP:0032491 rdfs:label nl Increased circulating argininosuccinic acid NOT_TRANSLATED +en Increased circulating aspartic acid concentration HP:0500159 rdfs:label nl Increased circulating aspartic acid concentration NOT_TRANSLATED +en Increased circulating band cell count HP:0032239 rdfs:label nl Increased circulating band cell count NOT_TRANSLATED +en Increased circulating beta-2-microglobulin level HP:0025346 rdfs:label nl Toegenomen circulerend beta-2-microglobuline niveau CANDIDATE +en Increased circulating beta-C-terminal telopeptide concentration HP:0031425 rdfs:label nl Toegenomen circulerend beta-C-terminaal telopeptide niveau CANDIDATE +en Increased circulating brain natriuretic peptide concentration HP:0033534 rdfs:label nl Increased circulating brain natriuretic peptide concentration NOT_TRANSLATED +en Increased circulating cathepsin D level HP:0033182 rdfs:label nl Increased circulating cathepsin D level NOT_TRANSLATED +en Increased circulating ceruloplasmin concentration HP:0033145 rdfs:label nl Increased circulating ceruloplasmin concentration NOT_TRANSLATED +en Increased circulating chylomicron concentration HP:0012238 rdfs:label nl Toegenomen circulerende chylomicronen niveaus CANDIDATE +en Increased circulating complement factor H related protein 1 concentration HP:0033300 rdfs:label nl Increased circulating complement factor H related protein 1 concentration NOT_TRANSLATED +en Increased circulating copper concentration HP:0032254 rdfs:label nl Increased circulating copper concentration NOT_TRANSLATED +en Increased circulating corticosterone level HP:0032362 rdfs:label nl Increased circulating corticosterone level NOT_TRANSLATED +en Increased circulating cortisol level HP:0003118 rdfs:label nl Toegenomen circulerend cortisol-niveau CANDIDATE +en Increased circulating creatine kinase BB isoform HP:0032233 rdfs:label nl Increased circulating creatine kinase BB isoform NOT_TRANSLATED +en Increased circulating creatine kinase MB isoform HP:0032232 rdfs:label nl Increased circulating creatine kinase MB isoform NOT_TRANSLATED +en Increased circulating creatine kinase MM isoform HP:0032234 rdfs:label nl Increased circulating creatine kinase MM isoform NOT_TRANSLATED +en Increased circulating ethanolamine concentration HP:0500250 rdfs:label nl Increased circulating ethanolamine concentration NOT_TRANSLATED +en Increased circulating farnesol concentration HP:0033083 rdfs:label nl Increased circulating farnesol concentration NOT_TRANSLATED +en Increased circulating ferritin concentration HP:0003281 rdfs:label nl Verhoogd serum ferritine CANDIDATE +en Increased circulating fetuin A concentration HP:0033307 rdfs:label nl Increased circulating fetuin A concentration NOT_TRANSLATED +en Increased circulating free T3 HP:0011788 rdfs:label nl Verhoogd serum vrij triiodothyronine CANDIDATE +en Increased circulating free T4 concentration HP:0033077 rdfs:label nl Increased circulating free T4 concentration NOT_TRANSLATED +en Increased circulating free fatty acid level HP:0030781 rdfs:label nl Increased circulating free fatty acid level NOT_TRANSLATED +en Increased circulating galectin-3 level HP:0032205 rdfs:label nl Increased circulating galectin-3 level NOT_TRANSLATED +en Increased circulating globulin level HP:0032311 rdfs:label nl Increased circulating globulin level NOT_TRANSLATED +en Increased circulating gonadotropin level HP:0000837 rdfs:label nl Toegenomen circulerend gonadotropine niveau CANDIDATE +en Increased circulating guanosine concentration HP:0033340 rdfs:label nl Increased circulating guanosine concentration NOT_TRANSLATED +en Increased circulating heparan sulfate level HP:0410342 rdfs:label nl Increased circulating heparan sulfate level NOT_TRANSLATED +en Increased circulating hypoxanthine concentration HP:0034333 rdfs:label nl Increased circulating hypoxanthine concentration NOT_TRANSLATED +en Increased circulating immature neutrophil count HP:0032236 rdfs:label nl Increased circulating immature neutrophil count NOT_TRANSLATED +en Increased circulating inosine concentration HP:0033339 rdfs:label nl Increased circulating inosine concentration NOT_TRANSLATED +en Increased circulating insulin-like growth factor 1 concentration HP:0030269 rdfs:label nl Verhoogd serum insulin-like growth factor 1 CANDIDATE +en Increased circulating interferon-gamma concentration HP:0030356 rdfs:label nl Verhoogd serum interferon-gamma niveau CANDIDATE +en Increased circulating interleukin 10 concentration HP:0033199 rdfs:label nl Increased circulating interleukin 10 concentration NOT_TRANSLATED +en Increased circulating interleukin 12 concentration HP:0034487 rdfs:label nl Increased circulating interleukin 12 concentration NOT_TRANSLATED +en Increased circulating interleukin 13 concentration HP:0034488 rdfs:label nl Increased circulating interleukin 13 concentration NOT_TRANSLATED +en Increased circulating interleukin 17A concentration HP:0034178 rdfs:label nl Increased circulating interleukin 17A concentration NOT_TRANSLATED +en Increased circulating interleukin 18 concentration HP:0034447 rdfs:label nl Increased circulating interleukin 18 concentration NOT_TRANSLATED +en Increased circulating interleukin 1beta concentration HP:6000374 rdfs:label nl Verhoogde circulerende interleukine 1beta-concentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Increased circulating interleukin 2 concentration HP:0034489 rdfs:label nl Increased circulating interleukin 2 concentration NOT_TRANSLATED +en Increased circulating interleukin 21 concentration HP:0034166 rdfs:label nl Increased circulating interleukin 21 concentration NOT_TRANSLATED +en Increased circulating interleukin 22 concentration HP:0034169 rdfs:label nl Increased circulating interleukin 22 concentration NOT_TRANSLATED +en Increased circulating interleukin 23 concentration HP:0034172 rdfs:label nl Increased circulating interleukin 23 concentration NOT_TRANSLATED +en Increased circulating interleukin 27 concentration HP:0034175 rdfs:label nl Increased circulating interleukin 27 concentration NOT_TRANSLATED +en Increased circulating interleukin 4 concentration HP:0034490 rdfs:label nl Increased circulating interleukin 4 concentration NOT_TRANSLATED +en Increased circulating interleukin 5 concentration HP:0034491 rdfs:label nl Increased circulating interleukin 5 concentration NOT_TRANSLATED +en Increased circulating interleukin 6 concentration HP:0030783 rdfs:label nl Verhoogd serum Interleukine-6 CANDIDATE +en Increased circulating interleukin 8 concentration HP:0033178 rdfs:label nl Increased circulating interleukin 8 concentration NOT_TRANSLATED +en Increased circulating isovaleric acid concentration HP:0033148 rdfs:label nl Increased circulating isovaleric acid concentration NOT_TRANSLATED +en Increased circulating lactate dehydrogenase concentration HP:0025435 rdfs:label nl Toegenomen lactaatdehydrogenase activiteit CANDIDATE +en Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 HP:0031798 IAO:0000115 nl Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 NOT_TRANSLATED +en Increased circulating lipoprotein lipase concentration HP:0033478 rdfs:label nl Increased circulating lipoprotein lipase concentration NOT_TRANSLATED +en Increased circulating mead acid level HP:0020148 rdfs:label nl Increased circulating mead acid level NOT_TRANSLATED +en Increased circulating metamyelocyte count HP:0032238 rdfs:label nl Increased circulating metamyelocyte count NOT_TRANSLATED +en Increased circulating myelocyte count HP:0032237 rdfs:label nl Increased circulating myelocyte count NOT_TRANSLATED +en Increased circulating myristoleate level HP:0025628 rdfs:label nl Increased circulating myristoleate level NOT_TRANSLATED +en Increased circulating nicotinurate level HP:0410206 rdfs:label nl Increased circulating nicotinurate level NOT_TRANSLATED +en Increased circulating octadecanoate level HP:0025627 rdfs:label nl Increased circulating octadecanoate level NOT_TRANSLATED +en Increased circulating oleate level HP:0025626 rdfs:label nl Increased circulating oleate level NOT_TRANSLATED +en Increased circulating osteocalcin level HP:0031428 rdfs:label nl Toegenomen circulerend osteocalcin niveau CANDIDATE +en Increased circulating palmitate level HP:0032462 rdfs:label nl Increased circulating palmitate level NOT_TRANSLATED +en Increased circulating pancreatic triacylglycerol lipase level HP:0032932 rdfs:label nl Increased circulating pancreatic triacylglycerol lipase level NOT_TRANSLATED +en Increased circulating prealbumin concentration HP:0033451 rdfs:label nl Increased circulating prealbumin concentration NOT_TRANSLATED +en Increased circulating precipitin level HP:0033039 rdfs:label nl Increased circulating precipitin level NOT_TRANSLATED +en Increased circulating procalcitonin concentration HP:0032308 rdfs:label nl Increased circulating procalcitonin concentration NOT_TRANSLATED +en Increased circulating progesterone HP:0031216 rdfs:label nl Toegenomen circulerend progesteron CANDIDATE +en Increased circulating prolactin concentration HP:0000870 rdfs:label nl Prolactine overmaat CANDIDATE +en Increased circulating purine concentration HP:0004368 rdfs:label nl Verhoogde purine niveaus CANDIDATE +en Increased circulating renin level HP:0000848 rdfs:label nl Toegenomen circulerend renine-niveau CANDIDATE +en Increased circulating selenium concentration HP:0033191 rdfs:label nl Increased circulating selenium concentration NOT_TRANSLATED +en Increased circulating specific IgE antibody HP:0032336 rdfs:label nl Increased circulating specific IgE antibody NOT_TRANSLATED +en Increased circulating surfactant protein level HP:0032094 rdfs:label nl Increased circulating surfactant protein level NOT_TRANSLATED +en Increased circulating thyroglobulin level HP:0025484 rdfs:label nl Toegenomen circulerend thyroglobuline niveau CANDIDATE +en Increased circulating thyroxine-binding globulin level HP:0031222 rdfs:label nl Toegenomen circulerend thyroxine-bindend globuline niveau CANDIDATE +en Increased circulating troponin I concentration HP:0410173 rdfs:label nl Increased circulating troponin I concentration NOT_TRANSLATED +en Increased circulating troponin T concentration HP:0410174 rdfs:label nl Increased circulating troponin T concentration NOT_TRANSLATED +en Increased circulating trypsinogen HP:0032493 rdfs:label nl Increased circulating trypsinogen NOT_TRANSLATED +en Increased circulating very long-chain fatty acid concentration HP:0033643 rdfs:label nl Increased circulating very long-chain fatty acid concentration NOT_TRANSLATED +en Increased complex N-glycan level HP:0410352 rdfs:label nl Increased complex N-glycan level NOT_TRANSLATED +en Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons HP:0033643 IAO:0000115 nl Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons NOT_TRANSLATED +en Increased concentration of 1-methylhistidine in the urine HP:0410315 IAO:0000115 nl Increased concentration of 1-methylhistidine in the urine NOT_TRANSLATED +en Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone HP:0025436 IAO:0000115 nl Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone NOT_TRANSLATED +en Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids HP:0033809 IAO:0000115 nl Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids NOT_TRANSLATED +en Increased concentration of 2-methylbutyryl glycine in the urine HP:0020147 IAO:0000115 nl Increased concentration of 2-methylbutyryl glycine in the urine NOT_TRANSLATED +en Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation HP:0033461 IAO:0000115 nl Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation HP:0033464 IAO:0000115 nl Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of 3-methylhistidine in the urine HP:0410317 IAO:0000115 nl Increased concentration of 3-methylhistidine in the urine NOT_TRANSLATED +en Increased concentration of 4-hydroxyphenylacetic acid in the urine HP:0003607 IAO:0000115 nl Increased concentration of 4-hydroxyphenylacetic acid in the urine NOT_TRANSLATED +en Increased concentration of O-butyrylcarnitine in the blood circulation HP:0033446 IAO:0000115 nl Increased concentration of O-butyrylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of O-isovalerylcarnitine in the blood circulation HP:0033447 IAO:0000115 nl Increased concentration of O-isovalerylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of SO3(2-), i.e., sulfite, in the urine HP:0011942 IAO:0000115 nl Increased concentration of SO3(2-), i.e., sulfite, in the urine NOT_TRANSLATED +en Increased concentration of albumin in the urine HP:0012592 IAO:0000115 nl Increased concentration of albumin in the urine NOT_TRANSLATED +en Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation HP:0034365 IAO:0000115 nl Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation NOT_TRANSLATED +en Increased concentration of amyloid in the cerebrospinal fluid (CSF) HP:0030862 IAO:0000115 nl Increased concentration of amyloid in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Increased concentration of androstenedione in the blood circulation HP:0025380 IAO:0000115 nl Increased concentration of androstenedione in the blood circulation NOT_TRANSLATED +en Increased concentration of beta-alanine in the blood HP:0012556 IAO:0000115 nl Increased concentration of beta-alanine in the blood NOT_TRANSLATED +en Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation HP:0034383 IAO:0000115 nl Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation NOT_TRANSLATED +en Increased concentration of biopterin in the cerebrospinal fluid (CSF) HP:0040208 IAO:0000115 nl Increased concentration of biopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation HP:0033103 IAO:0000115 nl Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation NOT_TRANSLATED +en Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid HP:0032651 IAO:0000115 nl Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid NOT_TRANSLATED +en Increased concentration of chitotriosidase 1 in cerebrospinal fluid HP:0032652 IAO:0000115 nl Increased concentration of chitotriosidase 1 in cerebrospinal fluid NOT_TRANSLATED +en Increased concentration of cotinine in urine HP:0410171 IAO:0000115 nl Increased concentration of cotinine in urine NOT_TRANSLATED +en Increased concentration of decenoylcarnitine in the blood circulation HP:0033439 IAO:0000115 nl Increased concentration of decenoylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of disaccharide in the urine HP:0012066 IAO:0000115 nl Increased concentration of disaccharide in the urine NOT_TRANSLATED +en Increased concentration of dodecanoylcarnitine in the blood circulation HP:0033444 IAO:0000115 nl Increased concentration of dodecanoylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of dopamine in the cerebrospinal fluid (CSF) HP:0012655 IAO:0000115 nl Increased concentration of dopamine in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production HP:0033644 IAO:0000115 nl Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production NOT_TRANSLATED +en Increased concentration of ferritin in the blood circulation HP:0003281 IAO:0000115 nl Increased concentration of ferritin in the blood circulation NOT_TRANSLATED +en Increased concentration of fibrinogen in the blood HP:0011899 IAO:0000115 nl Increased concentration of fibrinogen in the blood NOT_TRANSLATED +en Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid HP:0032650 IAO:0000115 nl Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid NOT_TRANSLATED +en Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease HP:0033595 IAO:0000115 nl Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease NOT_TRANSLATED +en Increased concentration of glutarylcarnitine in the blood circulation HP:0033442 IAO:0000115 nl Increased concentration of glutarylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of glycerol in the blood HP:0040302 IAO:0000115 nl Increased concentration of glycerol in the blood NOT_TRANSLATED +en Increased concentration of guanosine in the blood circulation HP:0033340 IAO:0000115 nl Increased concentration of guanosine in the blood circulation NOT_TRANSLATED +en Increased concentration of hexanoylcarnitine in the blood circulation HP:0033441 IAO:0000115 nl Increased concentration of hexanoylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of histamine in the blood circulation HP:0034446 IAO:0000115 nl Increased concentration of histamine in the blood circulation NOT_TRANSLATED +en Increased concentration of homovanillic acid in the blood circulation HP:0033324 IAO:0000115 nl Increased concentration of homovanillic acid in the blood circulation NOT_TRANSLATED +en Increased concentration of interferon alpha in the cerebrospinal fluid (CSF) HP:0009709 IAO:0000115 nl Increased concentration of interferon alpha in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration HP:0033148 IAO:0000115 nl Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration NOT_TRANSLATED +en Increased concentration of lactate in the cerebrospinal fluid HP:0002490 IAO:0000115 nl Increased concentration of lactate in the cerebrospinal fluid NOT_TRANSLATED +en Increased concentration of linoleylcarnitine in the blood circulation HP:0033484 IAO:0000115 nl Increased concentration of linoleylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of lipoprotein lipase in the blood circulation HP:0033478 IAO:0000115 nl Increased concentration of lipoprotein lipase in the blood circulation NOT_TRANSLATED +en Increased concentration of long-chain fatty acids in the blood circulation HP:0003455 IAO:0000115 nl Increased concentration of long-chain fatty acids in the blood circulation NOT_TRANSLATED +en Increased concentration of methylmalonic acid in the blood HP:0002912 IAO:0000115 nl Increased concentration of methylmalonic acid in the blood NOT_TRANSLATED +en Increased concentration of methylmalonic acid in the urine HP:0012120 IAO:0000115 nl Increased concentration of methylmalonic acid in the urine NOT_TRANSLATED +en Increased concentration of methylsuccinic acid in the blood circulation HP:0033146 IAO:0000115 nl Increased concentration of methylsuccinic acid in the blood circulation NOT_TRANSLATED +en Increased concentration of neopterin in the cerebrospinal fluid (CSF) HP:0040204 IAO:0000115 nl Increased concentration of neopterin in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Increased concentration of octenoylcarnitine in the blood circulation HP:0033440 IAO:0000115 nl Increased concentration of octenoylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of oleylcarnitine in the blood circulation HP:0033462 IAO:0000115 nl Increased concentration of oleylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of ornithine in the blood HP:0012026 IAO:0000115 nl Increased concentration of ornithine in the blood NOT_TRANSLATED +en Increased concentration of porphobilinogen in the urine HP:0012217 IAO:0000115 nl Increased concentration of porphobilinogen in the urine NOT_TRANSLATED +en Increased concentration of propionylcarnitine in the blood circulation HP:0033443 IAO:0000115 nl Increased concentration of propionylcarnitine in the blood circulation NOT_TRANSLATED +en Increased concentration of proprionic acid in the blood circulation HP:0003571 IAO:0000115 nl Increased concentration of proprionic acid in the blood circulation NOT_TRANSLATED +en Increased concentration of protein in the cerebrospinal fluid HP:0002922 IAO:0000115 nl Increased concentration of protein in the cerebrospinal fluid NOT_TRANSLATED +en Increased concentration of sebacic acid in the blood circulation HP:0033325 IAO:0000115 nl Increased concentration of sebacic acid in the blood circulation NOT_TRANSLATED +en Increased concentration of taurine in the cerebrospinal fluid (CSF) HP:0034455 IAO:0000115 nl Increased concentration of taurine in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Increased concentration of taurine in the urine HP:0003166 IAO:0000115 nl Increased concentration of taurine in the urine NOT_TRANSLATED +en Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response HP:0033833 IAO:0000115 nl Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response NOT_TRANSLATED +en Increased concentration of thiosulfate(2-) in the urine HP:0011943 IAO:0000115 nl Increased concentration of thiosulfate(2-) in the urine NOT_TRANSLATED +en Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation HP:0002925 IAO:0000115 nl Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation NOT_TRANSLATED +en Increased concentration of total (conjugated and unconjugated) bilirubin in the blood HP:0003573 IAO:0000115 nl Increased concentration of total (conjugated and unconjugated) bilirubin in the blood NOT_TRANSLATED +en Increased concentration of trimethylamine in the urine HP:0003614 IAO:0000115 nl Increased concentration of trimethylamine in the urine NOT_TRANSLATED +en Increased concentration of uracil in the urine HP:0012127 IAO:0000115 nl Increased concentration of uracil in the urine NOT_TRANSLATED +en Increased concentration of urate in the cerebrospinal fluid HP:0410199 IAO:0000115 nl Increased concentration of urate in the cerebrospinal fluid NOT_TRANSLATED +en Increased connective tissue HP:0009025 rdfs:label nl Toegenomen bindweefsel CANDIDATE +en Increased convexity of the occiput (posterior part of the skull) HP:0000269 IAO:0000115 nl Increased convexity of the occiput (posterior part of the skull) NOT_TRANSLATED +en Increased core 1 O-glycan level HP:0410360 rdfs:label nl Increased core 1 O-glycan level NOT_TRANSLATED +en Increased corneal curvature HP:0100692 rdfs:label nl Toegenomen corneale kromming CANDIDATE +en Increased corneal thickness HP:0011487 rdfs:label nl Toegenomen corneale dikte CANDIDATE +en Increased cotinine level HP:0410171 rdfs:label nl Increased cotinine level NOT_TRANSLATED +en Increased count of eosinophils in the blood HP:0001880 IAO:0000115 nl Increased count of eosinophils in the blood NOT_TRANSLATED +en Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow HP:0012132 IAO:0000115 nl Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow NOT_TRANSLATED +en Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately HP:0005622 IAO:0000115 nl Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately NOT_TRANSLATED +en Increased cup-to-disc ratio HP:0012796 rdfs:label nl Toegenomen cup/disc ratio CANDIDATE +en Increased cystatin C level HP:0032998 rdfs:label nl Increased cystatin C level NOT_TRANSLATED +en Increased cytoplasmic staining of fibroblasts with toluidine blue HP:0003610 IAO:0000115 nl Increased cytoplasmic staining of fibroblasts with toluidine blue NOT_TRANSLATED +en Increased degradation of fibrin, associated with clot instability and bleeding HP:0040236 IAO:0000115 nl Increased degradation of fibrin, associated with clot instability and bleeding NOT_TRANSLATED +en Increased density of hairs, i.e., and elevated number of hairs per unit area HP:0100874 IAO:0000115 nl Increased density of hairs, i.e., and elevated number of hairs per unit area NOT_TRANSLATED +en Increased density of left ventricular trabeculae HP:0031194 rdfs:label nl Increased density of left ventricular trabeculae NOT_TRANSLATED +en Increased density of long bone diaphyses HP:0006440 rdfs:label nl Verhoogde dichtheid diafysen van lange botten CANDIDATE +en Increased density of long bones HP:0006392 rdfs:label nl Verhoogde dichtheid van lange botten CANDIDATE +en Increased density of the bony tissue of the scapula HP:0001474 IAO:0000115 nl Increased density of the bony tissue of the scapula NOT_TRANSLATED +en Increased density of the compact bone of long bone HP:0006415 IAO:0000115 nl Increased density of the compact bone of long bone NOT_TRANSLATED +en Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing HP:0033701 IAO:0000115 nl Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing NOT_TRANSLATED +en Increased density/number and/or increased diameter of eyebrow hairs HP:0000574 IAO:0000115 nl Increased density/number and/or increased diameter of eyebrow hairs NOT_TRANSLATED +en Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased HP:0007765 IAO:0000115 nl Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased NOT_TRANSLATED +en Increased depth of the median tongue furrow HP:0002711 IAO:0000115 nl Increased depth of the median tongue furrow NOT_TRANSLATED +en Increased dermatoglyphic whorls HP:0005875 rdfs:label nl Increased dermatoglyphic whorls NOT_TRANSLATED +en Increased desire for sexual activity on the part of a male HP:0040305 IAO:0000115 nl Increased desire for sexual activity on the part of a male NOT_TRANSLATED +en Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) HP:0033149 IAO:0000115 nl Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts) NOT_TRANSLATED +en Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) HP:0033373 IAO:0000115 nl Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index) NOT_TRANSLATED +en Increased dimension of the sclera in the anterior-posterior axis HP:0030823 IAO:0000115 nl Increased dimension of the sclera in the anterior-posterior axis NOT_TRANSLATED +en Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery HP:0012520 IAO:0000115 nl Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery NOT_TRANSLATED +en Increased discharge of mucus from the nose HP:0031417 IAO:0000115 nl Increased discharge of mucus from the nose NOT_TRANSLATED +en Increased disialylated core 1 O-glycan level HP:0410365 rdfs:label nl Increased disialylated core 1 O-glycan level NOT_TRANSLATED +en Increased distance between the attachments of the alae nasi to the face HP:0012810 IAO:0000115 nl Increased distance between the attachments of the alae nasi to the face NOT_TRANSLATED +en Increased distance between the maxillary central permanent incisor tooth HP:0001566 IAO:0000115 nl Increased distance between the maxillary central permanent incisor tooth NOT_TRANSLATED +en Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity HP:4000006 IAO:0000115 nl Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity NOT_TRANSLATED +en Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema HP:4000003 IAO:0000115 nl Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema NOT_TRANSLATED +en Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation HP:0034399 IAO:0000115 nl Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation NOT_TRANSLATED +en Increased echogenecity of the kidney cortex HP:0033132 IAO:0000115 nl Increased echogenecity of the kidney cortex NOT_TRANSLATED +en Increased echogenecity of the medullary region of the kidney HP:0033131 IAO:0000115 nl Increased echogenecity of the medullary region of the kidney NOT_TRANSLATED +en Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus HP:0034248 IAO:0000115 nl Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus NOT_TRANSLATED +en Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device HP:0031141 IAO:0000115 nl Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device NOT_TRANSLATED +en Increased endomysial connective tissue HP:0100297 rdfs:label nl Toegenomen endomysiale bindweefsel CANDIDATE +en Increased erythrocyte protoporphyrin concentration HP:0012187 rdfs:label nl Toegenomen erytrocyt protoporfyrine concentratie CANDIDATE +en Increased esterified to free carnitine ratio HP:0033506 rdfs:label nl Increased esterified to free carnitine ratio NOT_TRANSLATED +en Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues HP:0012067 IAO:0000115 nl Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues NOT_TRANSLATED +en Increased excretion of oxalates in the urine HP:0003159 IAO:0000115 nl Increased excretion of oxalates in the urine NOT_TRANSLATED +en Increased extraneuronal autofluorescent lipopigment HP:0003463 rdfs:label nl Verhoogd extraneuronaal autofluorescent lipopigment CANDIDATE +en Increased facial adipose tissue HP:0000287 rdfs:label nl Toegenomen vetweefsel van het gelaat CANDIDATE +en Increased factor IX activity HP:0033061 rdfs:label nl Increased factor IX activity NOT_TRANSLATED +en Increased factor VIII activity HP:0030977 rdfs:label nl Toegenomen activiteit van factor VIII CANDIDATE +en Increased fecal bile acid HP:0034043 rdfs:label nl Increased fecal bile acid NOT_TRANSLATED +en Increased fecal calprotectin level HP:0034056 rdfs:label nl Increased fecal calprotectin level NOT_TRANSLATED +en Increased fecal coproporphyrin 1 HP:0033009 rdfs:label nl Increased fecal coproporphyrin 1 NOT_TRANSLATED +en Increased fecal coproporphyrin 3 HP:0033010 rdfs:label nl Increased fecal coproporphyrin 3 NOT_TRANSLATED +en Increased fecal coproporphyrin III:coproporphyrin I ratio HP:0034471 rdfs:label nl Increased fecal coproporphyrin III:coproporphyrin I ratio NOT_TRANSLATED +en Increased fecal harderoporphyrin HP:0034472 rdfs:label nl Increased fecal harderoporphyrin NOT_TRANSLATED +en Increased fecal heptacarboxylporphyrin HP:0034473 rdfs:label nl Increased fecal heptacarboxylporphyrin NOT_TRANSLATED +en Increased fecal isocoproporphyrin HP:0034475 rdfs:label nl Increased fecal isocoproporphyrin NOT_TRANSLATED +en Increased fecal pentacarboxylporphyrin HP:0034474 rdfs:label nl Increased fecal pentacarboxylporphyrin NOT_TRANSLATED +en Increased fecal porphyrin HP:0032999 rdfs:label nl Increased fecal porphyrin NOT_TRANSLATED +en Increased fecal protoporphyrin concentration HP:0034283 rdfs:label nl Increased fecal protoporphyrin concentration NOT_TRANSLATED +en Increased female libido HP:0030019 rdfs:label nl Verhoogd vrouwelijk libido CANDIDATE +en Increased femoral anteversion HP:0012427 rdfs:label nl Increased femoral anteversion NOT_TRANSLATED +en Increased fetal lens echogenicity HP:0034248 rdfs:label nl Increased fetal lens echogenicity NOT_TRANSLATED +en Increased fetal long bone echogenicity HP:0034074 rdfs:label nl Increased fetal long bone echogenicity NOT_TRANSLATED +en Increased fetal movement HP:0010519 rdfs:label nl Toegenomen foetale bewegingen CANDIDATE +en Increased fibular diameter HP:0012107 rdfs:label nl Verhoogde fibulaire diameter CANDIDATE +en Increased focal pigmentation of the vermilion of the lips HP:0010798 IAO:0000115 nl Increased focal pigmentation of the vermilion of the lips NOT_TRANSLATED +en Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption HP:0034359 IAO:0000115 nl Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption NOT_TRANSLATED +en Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption HP:0034357 IAO:0000115 nl Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption NOT_TRANSLATED +en Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption HP:0034358 IAO:0000115 nl Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption NOT_TRANSLATED +en Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution HP:0031535 IAO:0000115 nl Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution NOT_TRANSLATED +en Increased frequency of urination HP:0100515 IAO:0000115 nl Increased frequency of urination NOT_TRANSLATED +en Increased fucosylation of N-linked protein glycosylation HP:0012354 rdfs:label nl Verhoogde fucosylatie van N-glycosylatie CANDIDATE +en Increased fucosylation of O-linked protein glycosylation HP:0012361 rdfs:label nl Verhoogde fucosylatie van O-glycosylatie CANDIDATE +en Increased globoside Gb3 level HP:0410368 rdfs:label nl Increased globoside Gb3 level NOT_TRANSLATED +en Increased globoside Gb4 level HP:0410366 rdfs:label nl Increased globoside Gb4 level NOT_TRANSLATED +en Increased glomerular filtration rate HP:0012214 rdfs:label nl Toegenomen glomerulaire filtratiesnelheid CANDIDATE +en Increased glucagon level HP:0030688 rdfs:label nl Verhoogd glucagon niveau CANDIDATE +en Increased glucose-6-phosphate dehydrogenase level in blood HP:0410178 rdfs:label nl Increased glucose-6-phosphate dehydrogenase level in blood NOT_TRANSLATED +en Increased glucose-6-phosphate dehydrogenase level in dried blood spot HP:0410181 rdfs:label nl Increased glucose-6-phosphate dehydrogenase level in dried blood spot NOT_TRANSLATED +en Increased glucose-6-phosphate dehydrogenase level in leukocytes HP:0410191 rdfs:label nl Increased glucose-6-phosphate dehydrogenase level in leukocytes NOT_TRANSLATED +en Increased glucose-6-phosphate dehydrogenase level in red blood cells HP:0410189 rdfs:label nl Increased glucose-6-phosphate dehydrogenase level in red blood cells NOT_TRANSLATED +en Increased glucose-6-phosphate dehydrogenase level in tissue HP:0410186 rdfs:label nl Increased glucose-6-phosphate dehydrogenase level in tissue NOT_TRANSLATED +en Increased glutamine family amino acid level in urine HP:0033093 rdfs:label nl Increased glutamine family amino acid level in urine NOT_TRANSLATED +en Increased groin pigmentation with raindrop depigmentation HP:0007450 rdfs:label nl Increased groin pigmentation with raindrop depigmentation NOT_TRANSLATED +en Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing HP:0030268 IAO:0000115 nl Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing NOT_TRANSLATED +en Increased head circumference HP:0040194 rdfs:label nl Verhoogde hoofdomtrek CANDIDATE +en Increased heart rate variability HP:0031862 rdfs:label nl Increased heart rate variability NOT_TRANSLATED +en Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape HP:0002553 IAO:0000115 nl Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape NOT_TRANSLATED +en Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak HP:0011269 IAO:0000115 nl Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak NOT_TRANSLATED +en Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) HP:0008808 IAO:0000115 nl Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally) NOT_TRANSLATED +en Increased helper T cell proportion HP:0500264 rdfs:label nl Increased helper T cell proportion NOT_TRANSLATED +en Increased hematocrit HP:0001899 rdfs:label nl Verhoogd hematocriet CANDIDATE +en Increased hemoglobin HP:0001900 rdfs:label nl Verhoogd hemoglobine CANDIDATE +en Increased hemoglobin concentration HP:0020063 rdfs:label nl Increased hemoglobin concentration NOT_TRANSLATED +en Increased hemoglobin oxygen affinity HP:0004825 rdfs:label nl Verhoogde hemoglobine affiniteit voor zuurstof CANDIDATE +en Increased hepatic echogenicity HP:0031141 rdfs:label nl Toegenomen hepatische echogeniciteit CANDIDATE +en Increased hepatic glycogen content HP:0006568 rdfs:label nl Verhoogde hepatische glycogeen inhoud CANDIDATE +en Increased hepatitis A virus antibody level HP:0410367 rdfs:label nl Increased hepatitis A virus antibody level NOT_TRANSLATED +en Increased hepatitis B virus antibody level HP:0410369 rdfs:label nl Increased hepatitis B virus antibody level NOT_TRANSLATED +en Increased hepatitis C virus antibody level HP:0410371 rdfs:label nl Increased hepatitis C virus antibody level NOT_TRANSLATED +en Increased hepatocellular lipid droplets HP:0006565 rdfs:label nl Verhoogde hepatocellulaire lipide druppels CANDIDATE +en Increased high-mannose N-glycan level HP:0410357 rdfs:label nl Increased high-mannose N-glycan level NOT_TRANSLATED +en Increased iduronate sulfatase level HP:0003538 rdfs:label nl Increased iduronate sulfatase level NOT_TRANSLATED +en Increased immunoglobulin level in body fluid HP:0041077 rdfs:label nl Increased immunoglobulin level in body fluid NOT_TRANSLATED +en Increased incisura length HP:0031229 rdfs:label nl Toegenomen incisura lengte CANDIDATE +en Increased incisura width HP:0031232 rdfs:label nl Toegenomen incisura breedte CANDIDATE +en Increased inferior to superior extent of the thorax HP:0100818 IAO:0000115 nl Increased inferior to superior extent of the thorax NOT_TRANSLATED +en Increased inferior-superior length of the neck HP:0000472 IAO:0000115 nl Increased inferior-superior length of the neck NOT_TRANSLATED +en Increased inflammatory response HP:0012649 rdfs:label nl Toegenomen inflammatoire reactie CANDIDATE +en Increased insulin like growth factor binding protein acid labile subunit concentration HP:0034184 rdfs:label nl Increased insulin like growth factor binding protein acid labile subunit concentration NOT_TRANSLATED +en Increased intensity of muscle tendon reflexes in jaw HP:0033683 IAO:0000115 nl Increased intensity of muscle tendon reflexes in jaw NOT_TRANSLATED +en Increased intensity of the Achilles reflex HP:0033206 IAO:0000115 nl Increased intensity of the Achilles reflex NOT_TRANSLATED +en Increased intensity of the biceps reflex HP:0033205 IAO:0000115 nl Increased intensity of the biceps reflex NOT_TRANSLATED +en Increased intensity of the brachioradialis reflex HP:0033203 IAO:0000115 nl Increased intensity of the brachioradialis reflex NOT_TRANSLATED +en Increased intensity of the triceps reflex HP:0033204 IAO:0000115 nl Increased intensity of the triceps reflex NOT_TRANSLATED +en Increased intervertebral space HP:0030320 rdfs:label nl Toegenomen intervertebrale ruimte CANDIDATE +en Increased intestinal transit time HP:0410204 rdfs:label nl Increased intestinal transit time NOT_TRANSLATED +en Increased intraabdominal fat HP:0008993 rdfs:label nl Verhoogd intra-abdominaal vet CANDIDATE +en Increased intracellular sodium HP:0003575 rdfs:label nl Verhoogd intracellulair natrium CANDIDATE +en Increased intracranial pressure HP:0002516 rdfs:label nl Verhoogde intracraniële druk CANDIDATE +en Increased intramuscular fat HP:0008985 rdfs:label nl Verhoogd intramusculair vet CANDIDATE +en Increased intramyocellular lipid droplets HP:0012240 rdfs:label nl Increased intramyocellular lipid droplets NOT_TRANSLATED +en Increased jitter at single fiber EMG HP:0030205 rdfs:label nl Increased jitter at single fiber EMG NOT_TRANSLATED +en Increased jugular venous pressure HP:0030848 IAO:0000115 nl Increased jugular venous pressure NOT_TRANSLATED +en Increased lacrimation owing to overproduction of tears HP:0031731 IAO:0000115 nl Increased lacrimation owing to overproduction of tears NOT_TRANSLATED +en Increased laxity of ankles HP:0006460 rdfs:label nl Verhoogde losheid van enkels CANDIDATE +en Increased laxity of fingers HP:0006149 rdfs:label nl Verhoogde beweeglijkheid van vingers CANDIDATE +en Increased left ventricular end-diastolic volume HP:0033755 rdfs:label nl Increased left ventricular end-diastolic volume NOT_TRANSLATED +en Increased length and width of one half of the tounge HP:0100875 IAO:0000115 nl Increased length and width of one half of the tounge NOT_TRANSLATED +en Increased length and width of the tongue HP:0000158 IAO:0000115 nl Increased length and width of the tongue NOT_TRANSLATED +en Increased length of multiple or a single phalanx of finger HP:0006155 IAO:0000115 nl Increased length of multiple or a single phalanx of finger NOT_TRANSLATED +en Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) HP:0012771 IAO:0000115 nl Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle) NOT_TRANSLATED +en Increased length of the big toe HP:0001847 IAO:0000115 nl Increased length of the big toe NOT_TRANSLATED +en Increased length of the clavicles HP:0000890 IAO:0000115 nl Increased length of the clavicles NOT_TRANSLATED +en Increased length of the distal phalanx of finger HP:0012299 IAO:0000115 nl Increased length of the distal phalanx of finger NOT_TRANSLATED +en Increased length of the hairs of the eyebrows HP:0004523 IAO:0000115 nl Increased length of the hairs of the eyebrows NOT_TRANSLATED +en Increased length of the middle phalanx of finger HP:0012298 IAO:0000115 nl Increased length of the middle phalanx of finger NOT_TRANSLATED +en Increased length of the neck of the femur HP:0033985 IAO:0000115 nl Increased length of the neck of the femur NOT_TRANSLATED +en Increased length of the proximal phalanx of finger HP:0006127 IAO:0000115 nl Increased length of the proximal phalanx of finger NOT_TRANSLATED +en Increased length of the radius HP:0006424 IAO:0000115 nl Increased length of the radius NOT_TRANSLATED +en Increased length of the superior cerebellar peduncle HP:0011933 IAO:0000115 nl Increased length of the superior cerebellar peduncle NOT_TRANSLATED +en Increased length of the tibia HP:0010504 rdfs:label nl Toegenomen lengte van de tibia CANDIDATE +en Increased length of the ulna HP:0003988 IAO:0000115 nl Increased length of the ulna NOT_TRANSLATED +en Increased length of the umbilical cord HP:0011417 IAO:0000115 nl Increased length of the umbilical cord NOT_TRANSLATED +en Increased length of the upper eyelashes HP:0007840 IAO:0000115 nl Increased length of the upper eyelashes NOT_TRANSLATED +en Increased length of the uvula HP:0010810 IAO:0000115 nl Increased length of the uvula NOT_TRANSLATED +en Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease HP:0033384 IAO:0000115 nl Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease NOT_TRANSLATED +en Increased level of 3-hydroxy-3-methylglutaric acid in urine HP:0410051 rdfs:label nl Increased level of 3-hydroxy-3-methylglutaric acid in urine NOT_TRANSLATED +en Increased level of D-threitol in CSF HP:0410058 rdfs:label nl Increased level of D-threitol in CSF NOT_TRANSLATED +en Increased level of D-threitol in plasma HP:0410057 rdfs:label nl Increased level of D-threitol in plasma NOT_TRANSLATED +en Increased level of D-threitol in urine HP:0410059 rdfs:label nl Increased level of D-threitol in urine NOT_TRANSLATED +en Increased level of IgE antibody against a drug or class of drugs, such as antibiotics HP:0410225 IAO:0000115 nl Increased level of IgE antibody against a drug or class of drugs, such as antibiotics NOT_TRANSLATED +en Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits HP:0410228 IAO:0000115 nl Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits NOT_TRANSLATED +en Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats HP:0410247 IAO:0000115 nl Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats NOT_TRANSLATED +en Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine HP:0410221 IAO:0000115 nl Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine NOT_TRANSLATED +en Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches HP:0410235 IAO:0000115 nl Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches NOT_TRANSLATED +en Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen HP:0410238 IAO:0000115 nl Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen NOT_TRANSLATED +en Increased level of IgE antibody against bacteria HP:0410224 IAO:0000115 nl Increased level of IgE antibody against bacteria NOT_TRANSLATED +en Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products HP:0410220 IAO:0000115 nl Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products NOT_TRANSLATED +en Increased level of IgE antibody against dust mites, such as house dust mites HP:0410223 IAO:0000115 nl Increased level of IgE antibody against dust mites, such as house dust mites NOT_TRANSLATED +en Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid HP:0410231 IAO:0000115 nl Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid NOT_TRANSLATED +en Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers HP:0410226 IAO:0000115 nl Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers NOT_TRANSLATED +en Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota HP:0410232 IAO:0000115 nl Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota NOT_TRANSLATED +en Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat HP:0410249 IAO:0000115 nl Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat NOT_TRANSLATED +en Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye HP:0410229 IAO:0000115 nl Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye NOT_TRANSLATED +en Increased level of IgE antibody against house dust mites, a common allergen HP:0410248 IAO:0000115 nl Increased level of IgE antibody against house dust mites, a common allergen NOT_TRANSLATED +en Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken HP:0410233 IAO:0000115 nl Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken NOT_TRANSLATED +en Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds HP:0410230 IAO:0000115 nl Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds NOT_TRANSLATED +en Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii HP:0410234 IAO:0000115 nl Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii NOT_TRANSLATED +en Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish HP:0410227 IAO:0000115 nl Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish NOT_TRANSLATED +en Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone HP:0410222 IAO:0000115 nl Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone NOT_TRANSLATED +en Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets HP:0410236 IAO:0000115 nl Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets NOT_TRANSLATED +en Increased level of L-fucose in urine HP:0410067 rdfs:label nl Increased level of L-fucose in urine NOT_TRANSLATED +en Increased level of L-glutamic acid in blood HP:0410068 rdfs:label nl Increased level of L-glutamic acid in blood NOT_TRANSLATED +en Increased level of L-pyroglutamic acid in urine HP:0410132 rdfs:label nl Increased level of L-pyroglutamic acid in urine NOT_TRANSLATED +en Increased level of N-acetylneuraminic acid in fibroblasts HP:0410157 rdfs:label nl Increased level of N-acetylneuraminic acid in fibroblasts NOT_TRANSLATED +en Increased level of N-acetylneuraminic acid in urine HP:0410156 rdfs:label nl Increased level of N-acetylneuraminic acid in urine NOT_TRANSLATED +en Increased level of allantoin in serum HP:0410052 rdfs:label nl Increased level of allantoin in serum NOT_TRANSLATED +en Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands HP:0410288 IAO:0000115 nl Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands NOT_TRANSLATED +en Increased level of beta 2-microglobulins in the urine HP:0025466 IAO:0000115 nl Increased level of beta 2-microglobulins in the urine NOT_TRANSLATED +en Increased level of carnosine in blood HP:0500161 rdfs:label nl Increased level of carnosine in blood NOT_TRANSLATED +en Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide HP:0031836 IAO:0000115 nl Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide NOT_TRANSLATED +en Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius HP:0100778 IAO:0000115 nl Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius NOT_TRANSLATED +en Increased level of galactitol in plasma HP:0410061 rdfs:label nl Increased level of galactitol in plasma NOT_TRANSLATED +en Increased level of galactitol in red blood cells HP:0410064 rdfs:label nl Increased level of galactitol in red blood cells NOT_TRANSLATED +en Increased level of galactitol in urine HP:0410062 rdfs:label nl Increased level of galactitol in urine NOT_TRANSLATED +en Increased level of galactonate in red blood cells HP:0410063 rdfs:label nl Increased level of galactonate in red blood cells NOT_TRANSLATED +en Increased level of gamma-aminobutyric acid in urine HP:0500253 rdfs:label nl Increased level of gamma-aminobutyric acid in urine NOT_TRANSLATED +en Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group HP:0034457 IAO:0000115 nl Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group NOT_TRANSLATED +en Increased level of hexanoylglycine in urine HP:0500255 rdfs:label nl Increased level of hexanoylglycine in urine NOT_TRANSLATED +en Increased level of hippuric acid in blood HP:0410065 rdfs:label nl Increased level of hippuric acid in blood NOT_TRANSLATED +en Increased level of hippuric acid in urine HP:0410066 rdfs:label nl Increased level of hippuric acid in urine NOT_TRANSLATED +en Increased level of leucine in urine HP:0032353 IAO:0000115 nl Increased level of leucine in urine NOT_TRANSLATED +en Increased level of methionine in urine HP:0032352 IAO:0000115 nl Increased level of methionine in urine NOT_TRANSLATED +en Increased level of methylsuccinic acid in urine HP:0410153 rdfs:label nl Increased level of methylsuccinic acid in urine NOT_TRANSLATED +en Increased level of myristic acid in serum HP:0410154 rdfs:label nl Increased level of myristic acid in serum NOT_TRANSLATED +en Increased level of phenylalanine in urine HP:0032351 IAO:0000115 nl Increased level of phenylalanine in urine NOT_TRANSLATED +en Increased level of platelet-activating factor HP:0040178 rdfs:label nl Toegenomen niveau van platelet-activating factor CANDIDATE +en Increased level of propylene glycol in blood HP:0410069 rdfs:label nl Increased level of propylene glycol in blood NOT_TRANSLATED +en Increased level of ribitol in CSF HP:0410071 rdfs:label nl Increased level of ribitol in CSF NOT_TRANSLATED +en Increased level of ribitol in urine HP:0410070 rdfs:label nl Increased level of ribitol in urine NOT_TRANSLATED +en Increased level of ribose in CSF HP:0410073 rdfs:label nl Increased level of ribose in CSF NOT_TRANSLATED +en Increased level of ribose in urine HP:0410072 rdfs:label nl Increased level of ribose in urine NOT_TRANSLATED +en Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues HP:0030948 IAO:0000115 nl Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues NOT_TRANSLATED +en Increased level of xylitol in CSF HP:0410075 rdfs:label nl Increased level of xylitol in CSF NOT_TRANSLATED +en Increased level of xylitol in urine HP:0410074 rdfs:label nl Increased level of xylitol in urine NOT_TRANSLATED +en Increased levels of protein in the urine HP:0000093 IAO:0000115 nl Increased levels of protein in the urine NOT_TRANSLATED +en Increased levels of thyroxine without evidence of clinical thyroid disease HP:0008247 IAO:0000115 nl Increased levels of thyroxine without evidence of clinical thyroid disease NOT_TRANSLATED +en Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond HP:0032573 IAO:0000115 nl Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond NOT_TRANSLATED +en Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond HP:0032574 IAO:0000115 nl Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond NOT_TRANSLATED +en Increased libido HP:0046503 rdfs:label nl Increased libido NOT_TRANSLATED +en Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption HP:0034356 IAO:0000115 nl Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption NOT_TRANSLATED +en Increased lymphocyte apoptosis HP:0030887 rdfs:label nl Toegenomen lymfocytaire apoptose CANDIDATE +en Increased male libido HP:0040305 rdfs:label nl Verhoogd mannelijk libido CANDIDATE +en Increased mannose-binding protein level HP:0032306 rdfs:label nl Increased mannose-binding protein level NOT_TRANSLATED +en Increased mannosylation of N-linked protein glycosylation HP:0012357 rdfs:label nl Verhoogde mannosylatie van N-glycosylatie CANDIDATE +en Increased mean corpuscular hemoglobin concentration HP:0025548 rdfs:label nl Toegenomen MCH CANDIDATE +en Increased mean corpuscular volume HP:0005518 rdfs:label nl Toegenomen MPV CANDIDATE +en Increased mean platelet volume HP:0011877 rdfs:label nl Toegenomen MPV CANDIDATE +en Increased megakaryocyte colony forming unit count HP:0034010 rdfs:label nl Increased megakaryocyte colony forming unit count NOT_TRANSLATED +en Increased megakaryocyte count HP:0005513 rdfs:label nl Verhoogd megakaryocyt aantal CANDIDATE +en Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow HP:0005513 IAO:0000115 nl Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow NOT_TRANSLATED +en Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas HP:0033493 IAO:0000115 nl Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas NOT_TRANSLATED +en Increased micromegakaryocyte count HP:0031386 rdfs:label nl Increased micromegakaryocyte count NOT_TRANSLATED +en Increased mid-arm muscle circumference HP:0033448 rdfs:label nl Increased mid-arm muscle circumference NOT_TRANSLATED +en Increased mitochondrial number HP:0040014 rdfs:label nl Verhoogd aantal mitochondriën CANDIDATE +en Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles HP:0005692 IAO:0000115 nl Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles NOT_TRANSLATED +en Increased mobility of one ore more metacarpophalangeal joint HP:0006099 IAO:0000115 nl Increased mobility of one ore more metacarpophalangeal joint NOT_TRANSLATED +en Increased monosialylated core 1 O-glycan level HP:0410363 rdfs:label nl Increased monosialylated core 1 O-glycan level NOT_TRANSLATED +en Increased multinucleated megakaryocyte count HP:0031387 rdfs:label nl Increased multinucleated megakaryocyte count NOT_TRANSLATED +en Increased muscle fatiguability HP:0003750 rdfs:label nl Verhoogde spier vermoeidbaarheid CANDIDATE +en Increased muscle glycogen content HP:0009051 rdfs:label nl Verhoogde spier glycogeen inhoud CANDIDATE +en Increased muscle lipid content HP:0009058 rdfs:label nl Verhoogde spier lipide inhoud CANDIDATE +en Increased muscle tone observed in the arms of the affected person HP:0200049 IAO:0000115 nl Increased muscle tone observed in the arms of the affected person NOT_TRANSLATED +en Increased muscle weakness upon exposure to cold temperatures HP:0031372 IAO:0000115 nl Increased muscle weakness upon exposure to cold temperatures NOT_TRANSLATED +en Increased neuronal autofluorescent lipopigment HP:0002074 rdfs:label nl Verhoogd neuronaal autofluorescent lipopigment CANDIDATE +en Increased neutrophil mitochondria HP:0041045 rdfs:label nl Increased neutrophil mitochondria NOT_TRANSLATED +en Increased neutrophil nuclear projections HP:0012552 rdfs:label nl Increased neutrophil nuclear projections NOT_TRANSLATED +en Increased neutrophil ribosomes HP:0041046 rdfs:label nl Increased neutrophil ribosomes NOT_TRANSLATED +en Increased non-HDL cholesterol concentration HP:0033626 rdfs:label nl Increased non-HDL cholesterol concentration NOT_TRANSLATED +en Increased nuchal translucency HP:0010880 rdfs:label nl Verhoogde nuchale translucentie CANDIDATE +en Increased number and size of the juxtaglomerular cells HP:0000111 IAO:0000115 nl Increased number and size of the juxtaglomerular cells NOT_TRANSLATED +en Increased number of calices of the kidney HP:0025360 IAO:0000115 nl Increased number of calices of the kidney NOT_TRANSLATED +en Increased number of elastic fibers in the dermis HP:0025164 rdfs:label nl Toegenomen aantal elastische vezels in de dermis CANDIDATE +en Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries HP:0033488 IAO:0000115 nl Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries NOT_TRANSLATED +en Increased number of lymph nodes HP:0032536 rdfs:label nl Increased number of lymph nodes NOT_TRANSLATED +en Increased number of neutrophils circulating in blood HP:0011897 IAO:0000115 nl Increased number of neutrophils circulating in blood NOT_TRANSLATED +en Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries HP:0033489 IAO:0000115 nl Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries NOT_TRANSLATED +en Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering HP:0033224 IAO:0000115 nl Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering NOT_TRANSLATED +en Increased number of skin folds HP:0007522 rdfs:label nl Verhoogd aantal huidplooien CANDIDATE +en Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium HP:0033314 IAO:0000115 nl Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium NOT_TRANSLATED +en Increased number or density of the folded ridges (wrinkles) of skin of the scrotum HP:0012857 IAO:0000115 nl Increased number or density of the folded ridges (wrinkles) of skin of the scrotum NOT_TRANSLATED +en Increased numbers of eosinophils in the interstitial tissues of the kidney HP:0032585 IAO:0000115 nl Increased numbers of eosinophils in the interstitial tissues of the kidney NOT_TRANSLATED +en Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow HP:0034010 IAO:0000115 nl Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow NOT_TRANSLATED +en Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain HP:0012574 IAO:0000115 nl Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain NOT_TRANSLATED +en Increased numbers of neutrophils in the interstitial tissues of the kidney HP:0032584 IAO:0000115 nl Increased numbers of neutrophils in the interstitial tissues of the kidney NOT_TRANSLATED +en Increased numbers of plasma cells in the interstitial tissues of the kidney HP:0032586 IAO:0000115 nl Increased numbers of plasma cells in the interstitial tissues of the kidney NOT_TRANSLATED +en Increased numbers of platelets in the peripheral blood HP:0001894 IAO:0000115 nl Increased numbers of platelets in the peripheral blood NOT_TRANSLATED +en Increased oocyte death HP:0032571 rdfs:label nl Increased oocyte death NOT_TRANSLATED +en Increased overbite HP:0011094 rdfs:label nl Overbeet CANDIDATE +en Increased passive stiffness or tightness of the neck musculature HP:0031867 IAO:0000115 nl Increased passive stiffness or tightness of the neck musculature NOT_TRANSLATED +en Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound HP:0034191 IAO:0000115 nl Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound NOT_TRANSLATED +en Increased peripheral blast count HP:0032372 rdfs:label nl Increased peripheral blast count NOT_TRANSLATED +en Increased peripheral myelin thickness HP:0030174 rdfs:label nl Verhoogde perifere myeline dikte CANDIDATE +en Increased phosphoribosylpyrophosphate synthetase level HP:0003240 rdfs:label nl Verhoogd fosforibosyl pyrofosfaat synthetase CANDIDATE +en Increased phytanic acid:pristanic acid ratio HP:0034449 rdfs:label nl Increased phytanic acid:pristanic acid ratio NOT_TRANSLATED +en Increased pigmentation (skin color) of the scrotum HP:0012855 IAO:0000115 nl Increased pigmentation (skin color) of the scrotum NOT_TRANSLATED +en Increased pigmentation of the fundus HP:0011512 IAO:0000115 nl Increased pigmentation of the fundus NOT_TRANSLATED +en Increased pigmentation of the skin in the region surrounding the orbit of the eye HP:0001106 IAO:0000115 nl Increased pigmentation of the skin in the region surrounding the orbit of the eye NOT_TRANSLATED +en Increased pigmentation of the skin with a netlike (reticular) pattern HP:0007588 IAO:0000115 nl Increased pigmentation of the skin with a netlike (reticular) pattern NOT_TRANSLATED +en Increased pigmentation, either focal or generalized, of the mucosa of the mouth HP:0010284 IAO:0000115 nl Increased pigmentation, either focal or generalized, of the mucosa of the mouth NOT_TRANSLATED +en Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips HP:0010802 IAO:0000115 nl Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips NOT_TRANSLATED +en Increased pineal volume HP:0012686 rdfs:label nl Toegenomen epifyse volume CANDIDATE +en Increased pitch variability of speech HP:0031436 rdfs:label nl Verhoogde variabiliteit van toonhoogte van spraak CANDIDATE +en Increased pituitary glycoprotein hormone alpha subunit level HP:0031208 rdfs:label nl Increased pituitary glycoprotein hormone alpha subunit level NOT_TRANSLATED +en Increased placental thickness HP:0032548 rdfs:label nl Increased placental thickness NOT_TRANSLATED +en Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins HP:0012238 IAO:0000115 nl Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins NOT_TRANSLATED +en Increased plasma vitamin K epoxide after vitamin K supplementation HP:0040239 rdfs:label nl Verhoogd plasma vitamine K epoxide na vitamine K supplementie CANDIDATE +en Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1 HP:0040239 IAO:0000115 nl Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1 NOT_TRANSLATED +en Increased platelet agglutination in response to low-dose ristocetin HP:0040241 IAO:0000115 nl Increased platelet agglutination in response to low-dose ristocetin NOT_TRANSLATED +en Increased pressure in the portal vein HP:0001409 IAO:0000115 nl Increased pressure in the portal vein NOT_TRANSLATED +en Increased pressure in the pre-hepatic portal vein HP:0004941 IAO:0000115 nl Increased pressure in the pre-hepatic portal vein NOT_TRANSLATED +en Increased proinsulin:insulin ratio HP:0031883 rdfs:label nl Increased proinsulin:insulin ratio NOT_TRANSLATED +en Increased prominence of the xiphoid process of the sternum HP:0100893 IAO:0000115 nl Increased prominence of the xiphoid process of the sternum NOT_TRANSLATED +en Increased prominence or roundness of soft tissues between zygomata and mandible HP:0000293 IAO:0000115 nl Increased prominence or roundness of soft tissues between zygomata and mandible NOT_TRANSLATED +en Increased proportion autoreactive unresponsive CD21-/low B cells HP:0033207 rdfs:label nl Increased proportion autoreactive unresponsive CD21-/low B cells NOT_TRANSLATED +en Increased proportion of CD25+ mast cells HP:0031408 rdfs:label nl Increased proportion of CD25+ mast cells NOT_TRANSLATED +en Increased proportion of CD4+CD25+ regulatory T cells HP:0020112 rdfs:label nl Increased proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED +en Increased proportion of CD4-positive T cells HP:0032219 rdfs:label nl Increased proportion of CD4-positive T cells NOT_TRANSLATED +en Increased proportion of CD4-positive, alpha-beta memory T cells HP:0410391 rdfs:label nl Increased proportion of CD4-positive, alpha-beta memory T cells NOT_TRANSLATED +en Increased proportion of CD8-positive, alpha-beta TEMRA T cells HP:0500265 rdfs:label nl Increased proportion of CD8-positive, alpha-beta TEMRA T cells NOT_TRANSLATED +en Increased proportion of CD8-positive, alpha-beta memory T cells HP:0410392 rdfs:label nl Increased proportion of CD8-positive, alpha-beta memory T cells NOT_TRANSLATED +en Increased proportion of HLA DR+ T cells HP:0002853 rdfs:label nl Toegenomen aantal van HLA DR + T cellen CANDIDATE +en Increased proportion of central memory CD4-positive, alpha-beta T cells HP:0410393 rdfs:label nl Increased proportion of central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED +en Increased proportion of central memory CD8-positive, alpha-beta T cells HP:0410396 rdfs:label nl Increased proportion of central memory CD8-positive, alpha-beta T cells NOT_TRANSLATED +en Increased proportion of class-switched memory B cells HP:0030387 rdfs:label nl Toegenomen proportie van class-switched geheugen B-cellen CANDIDATE +en Increased proportion of effector memory CD4-positive, alpha-beta T cells HP:0410394 rdfs:label nl Increased proportion of effector memory CD4-positive, alpha-beta T cells NOT_TRANSLATED +en Increased proportion of effector memory CD8-positive, alpha-beta T cells HP:0410395 rdfs:label nl Increased proportion of effector memory CD8-positive, alpha-beta T cells NOT_TRANSLATED +en Increased proportion of exhausted T cells HP:0031514 rdfs:label nl Toegenomen proportie van uitgeputte T-cellen CANDIDATE +en Increased proportion of gamma-delta T cells HP:0500270 rdfs:label nl Increased proportion of gamma-delta T cells NOT_TRANSLATED +en Increased proportion of gamma-delta T cells relative to the total number of T cells HP:0500270 IAO:0000115 nl Increased proportion of gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED +en Increased proportion of helper T cells relative to the total number of T cells HP:0500264 IAO:0000115 nl Increased proportion of helper T cells relative to the total number of T cells NOT_TRANSLATED +en Increased proportion of immature B cells HP:0030377 rdfs:label nl Toegenomen proportie van onrijpe B-cellen CANDIDATE +en Increased proportion of immature gamma-delta T cells HP:0500273 rdfs:label nl Increased proportion of immature gamma-delta T cells NOT_TRANSLATED +en Increased proportion of immature gamma-delta T cells relative to the total number of T cells HP:0500273 IAO:0000115 nl Increased proportion of immature gamma-delta T cells relative to the total number of T cells NOT_TRANSLATED +en Increased proportion of marginal zone B cells HP:0030385 rdfs:label nl Toegenomen proportie van marginale zone B-cellen CANDIDATE +en Increased proportion of memory B cells HP:0030375 rdfs:label nl Toegenomen proportie van B-geheugencellen CANDIDATE +en Increased proportion of memory T cells HP:0032184 rdfs:label nl Increased proportion of memory T cells NOT_TRANSLATED +en Increased proportion of naive B cells HP:0030371 rdfs:label nl Toegenomen proportie van naïeve B cellen CANDIDATE +en Increased proportion of naive CD4 T cells HP:0410375 rdfs:label nl Increased proportion of naive CD4 T cells NOT_TRANSLATED +en Increased proportion of naive CD8 T cells HP:0410376 rdfs:label nl Increased proportion of naive CD8 T cells NOT_TRANSLATED +en Increased proportion of naive T cells HP:0031398 rdfs:label nl Toegenomen proportie van naïeve T-cellen CANDIDATE +en Increased proportion of plasmablasts HP:0032128 rdfs:label nl Increased proportion of plasmablasts NOT_TRANSLATED +en Increased proportion of transitional B cells HP:0030381 rdfs:label nl Toegenomen proportie van transitionele B-cellen CANDIDATE +en Increased proportion of unswitched memory B cells HP:0032125 rdfs:label nl Increased proportion of unswitched memory B cells NOT_TRANSLATED +en Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures HP:0033207 IAO:0000115 nl Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures NOT_TRANSLATED +en Increased proteinogenic amino acid level in urine HP:0033100 rdfs:label nl Increased proteinogenic amino acid level in urine NOT_TRANSLATED +en Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix HP:0011240 IAO:0000115 nl Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix NOT_TRANSLATED +en Increased protrusion of the inferior crus relative to the prominence of the antihelix stem HP:0011238 IAO:0000115 nl Increased protrusion of the inferior crus relative to the prominence of the antihelix stem NOT_TRANSLATED +en Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem HP:0011247 IAO:0000115 nl Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem NOT_TRANSLATED +en Increased pulmonary capillary wedge pressure HP:0030876 rdfs:label nl Verhoogde pulmonary capillary wedge pressure CANDIDATE +en Increased pulmonary vascular resistance HP:0005317 rdfs:label nl Verhoogde pulmonale vaatweerstand CANDIDATE +en Increased radioactive iodine uptake HP:0031220 rdfs:label nl Toegenomen radioactief jodium opname CANDIDATE +en Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest HP:0005259 IAO:0000115 nl Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest NOT_TRANSLATED +en Increased rate of premature chromosome condensation HP:0003451 rdfs:label nl Verhoogde snelheid van premature chromosoom condensatie CANDIDATE +en Increased ratio of VWF propeptide to VWF antigen HP:0040240 rdfs:label nl Verhoogde ratio van VWF propetide tot VWF antigeen CANDIDATE +en Increased ratio of insulin to C-peptide in the blood circulation HP:0034384 IAO:0000115 nl Increased ratio of insulin to C-peptide in the blood circulation NOT_TRANSLATED +en Increased reactive oxygen species production HP:0025464 rdfs:label nl Increased reactive oxygen species production NOT_TRANSLATED +en Increased red blood cell count HP:0020059 rdfs:label nl Increased red blood cell count NOT_TRANSLATED +en Increased red blood cell mass HP:0001898 rdfs:label nl Verhoogde massa rode bloed cellen CANDIDATE +en Increased red cell hemolysis by shear stress HP:0008269 rdfs:label nl Verhoogde erytrocyt hemolyse door schuifspanning CANDIDATE +en Increased red cell osmotic fragility HP:0005502 rdfs:label nl Verhoogde rode cel osmotische fragiliteit CANDIDATE +en Increased red cell osmotic resistance HP:0005546 rdfs:label nl Verhoogde rode cel osmotische resistentie CANDIDATE +en Increased red cell sickling tendency HP:0008346 rdfs:label nl Verhoogde erytrocyt sickling neiging CANDIDATE +en Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine HP:0003161 IAO:0000115 nl Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine NOT_TRANSLATED +en Increased renal tubular phosphate reabsorption HP:0005571 rdfs:label nl Verhoogde renale tubulaire fosfaat reabsorptie CANDIDATE +en Increased resistance to the passage of air in the upper airway HP:0002781 IAO:0000115 nl Increased resistance to the passage of air in the upper airway NOT_TRANSLATED +en Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels HP:0000855 IAO:0000115 nl Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels NOT_TRANSLATED +en Increased resting energy expenditure HP:0012339 rdfs:label nl Verhoogd energieverbruik in rust CANDIDATE +en Increased retinal vascularity HP:0007986 rdfs:label nl Toegenomen retinale vasculariteit CANDIDATE +en Increased rigidity and reduced mobility of the tongue HP:0031373 IAO:0000115 nl Increased rigidity and reduced mobility of the tongue NOT_TRANSLATED +en Increased salivary cortisol level HP:0033015 rdfs:label nl Increased salivary cortisol level NOT_TRANSLATED +en Increased sarcoplasmic glycogen HP:0030232 rdfs:label nl Verhoogd sarcoplasmatisch glycogeen CANDIDATE +en Increased scrotal rugation HP:0012857 rdfs:label nl Increased scrotal rugation NOT_TRANSLATED +en Increased sensitivity to ionizing radiation HP:0011133 rdfs:label nl Verhoogde gevoeligheid voor ioniserende straling CANDIDATE +en Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain HP:0100963 IAO:0000115 nl Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain NOT_TRANSLATED +en Increased serine family amino acid in urine HP:0033099 rdfs:label nl Increased serine family amino acid in urine NOT_TRANSLATED +en Increased serum beta-hexosaminidase HP:0003333 rdfs:label nl Verhoogd serum beta-hexosaminidase CANDIDATE +en Increased serum bile acid concentration HP:0012202 rdfs:label nl Toegenomen concentratie serum galzuur CANDIDATE +en Increased serum bile acid concentration during pregnancy HP:0200150 rdfs:label nl Verhoogde serum galzuur concentratie tijdens zwangerschap CANDIDATE +en Increased serum estradiol HP:0025134 rdfs:label nl Toegenomen serum estradiol CANDIDATE +en Increased serum estriol HP:0025136 rdfs:label nl Toegenomen serum estriol CANDIDATE +en Increased serum estrone HP:0025139 rdfs:label nl Toegenomen serum estron CANDIDATE +en Increased serum iron HP:0003452 rdfs:label nl Verhoogd serum ijzer CANDIDATE +en Increased serum lactate HP:0002151 rdfs:label nl Verhoogd serum lactaat CANDIDATE +en Increased serum leptin HP:0031793 rdfs:label nl Increased serum leptin NOT_TRANSLATED +en Increased serum prostaglandin E2 HP:0003566 rdfs:label nl Verhoogd serum prostaglandine E2 CANDIDATE +en Increased serum pyruvate HP:0003542 rdfs:label nl Verhoogd serum pyruvaat CANDIDATE +en Increased serum serotonin HP:0003144 rdfs:label nl Verhoogd serum serotonine CANDIDATE +en Increased serum sorbitol concentration HP:0033124 rdfs:label nl Increased serum sorbitol concentration NOT_TRANSLATED +en Increased serum testosterone level HP:0030088 rdfs:label nl Verhoogd serum testosteron niveau CANDIDATE +en Increased serum zinc HP:0011424 rdfs:label nl Verhoogd serum zink CANDIDATE +en Increased sialylated N-glycan level HP:0410354 rdfs:label nl Increased sialylated N-glycan level NOT_TRANSLATED +en Increased sialylation of N-linked protein glycosylation HP:0012351 rdfs:label nl Verhoogde sialysatie van N-glycosylatie CANDIDATE +en Increased side-to-side width of a metatarsal bone HP:0001783 IAO:0000115 nl Increased side-to-side width of a metatarsal bone NOT_TRANSLATED +en Increased side-to-side width of one or more phalanges of the fingers or toes HP:0006009 IAO:0000115 nl Increased side-to-side width of one or more phalanges of the fingers or toes NOT_TRANSLATED +en Increased side-to-side width of the first metatarsal bone HP:0010068 IAO:0000115 nl Increased side-to-side width of the first metatarsal bone NOT_TRANSLATED +en Increased side-to-side width of the metacarpal epiphyses HP:0006146 IAO:0000115 nl Increased side-to-side width of the metacarpal epiphyses NOT_TRANSLATED +en Increased side-to-side width of the neck HP:0000475 IAO:0000115 nl Increased side-to-side width of the neck NOT_TRANSLATED +en Increased side-to-side width of the xiphoid process of the sternum HP:0100894 IAO:0000115 nl Increased side-to-side width of the xiphoid process of the sternum NOT_TRANSLATED +en Increased size and molar morphology of premolar tooth HP:0011093 IAO:0000115 nl Increased size and molar morphology of premolar tooth NOT_TRANSLATED +en Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge HP:0010291 IAO:0000115 nl Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge NOT_TRANSLATED +en Increased size of carpal bones HP:0004237 IAO:0000115 nl Increased size of carpal bones NOT_TRANSLATED +en Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum HP:0007227 IAO:0000115 nl Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum NOT_TRANSLATED +en Increased size of epiphyses HP:0010580 IAO:0000115 nl Increased size of epiphyses NOT_TRANSLATED +en Increased size of nasopharyngeal adenoids HP:0040261 rdfs:label nl Toegenomen grootte van nasofaryngeale adenoïden CANDIDATE +en Increased size of platelet dense granules HP:0033264 IAO:0000115 nl Increased size of platelet dense granules NOT_TRANSLATED +en Increased size of the basal ganglia HP:0007048 IAO:0000115 nl Increased size of the basal ganglia NOT_TRANSLATED +en Increased size of the clitoris HP:0040253 rdfs:label nl Toegenomen grootte van de clitoris CANDIDATE +en Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular HP:0011388 IAO:0000115 nl Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular NOT_TRANSLATED +en Increased size of the head of sperm HP:0025437 IAO:0000115 nl Increased size of the head of sperm NOT_TRANSLATED +en Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography HP:0001640 IAO:0000115 nl Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography NOT_TRANSLATED +en Increased size of the ilium ala HP:0008818 IAO:0000115 nl Increased size of the ilium ala NOT_TRANSLATED +en Increased size of the incisor tooth HP:0011081 IAO:0000115 nl Increased size of the incisor tooth NOT_TRANSLATED +en Increased size of the lymph nodes that are located beneath the mandible (lower jaw) HP:0033176 IAO:0000115 nl Increased size of the lymph nodes that are located beneath the mandible (lower jaw) NOT_TRANSLATED +en Increased size of the mandible HP:0040309 rdfs:label nl Toegenomen omvang van de onderkaak CANDIDATE +en Increased size of the maxillary central secondary incisor tooth HP:0000675 IAO:0000115 nl Increased size of the maxillary central secondary incisor tooth NOT_TRANSLATED +en Increased size of the parotid gland HP:0011801 IAO:0000115 nl Increased size of the parotid gland NOT_TRANSLATED +en Increased size of the placenta HP:0006267 IAO:0000115 nl Increased size of the placenta NOT_TRANSLATED +en Increased size of the ridge of tissue that extends along the midline of the scrotum HP:0003246 IAO:0000115 nl Increased size of the ridge of tissue that extends along the midline of the scrotum NOT_TRANSLATED +en Increased size of the semicircular canal HP:0011383 IAO:0000115 nl Increased size of the semicircular canal NOT_TRANSLATED +en Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth HP:0001572 IAO:0000115 nl Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth NOT_TRANSLATED +en Increased size of the vertebral pedicle HP:0004621 IAO:0000115 nl Increased size of the vertebral pedicle NOT_TRANSLATED +en Increased size of the vestibular aqueduct HP:0011387 IAO:0000115 nl Increased size of the vestibular aqueduct NOT_TRANSLATED +en Increased skull ossification HP:0004330 rdfs:label nl Verhoogde schedel ossificatie CANDIDATE +en Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia HP:0006313 IAO:0000115 nl Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia NOT_TRANSLATED +en Increased space between two adjacent teeth in the same dental arch HP:0000699 IAO:0000115 nl Increased space between two adjacent teeth in the same dental arch NOT_TRANSLATED +en Increased spaces (diastemata) between most of the teeth in the same dental arch HP:0000687 IAO:0000115 nl Increased spaces (diastemata) between most of the teeth in the same dental arch NOT_TRANSLATED +en Increased spinal bone density HP:0004563 rdfs:label nl Verhoogde dichtheid van spinaal bot CANDIDATE +en Increased sputum production HP:0033709 rdfs:label nl Increased sputum production NOT_TRANSLATED +en Increased stool alpha1-antitrypsin concentration HP:0031686 rdfs:label nl Afwijkende ontlasting alfa1-antitrypsine concentratie CANDIDATE +en Increased stool urobilinogen concentration HP:0500115 rdfs:label nl Increased stool urobilinogen concentration NOT_TRANSLATED +en Increased subcutaneous truncal adipose tissue HP:0009003 rdfs:label nl Toegenomen truncaal subcutaan vetweefsel CANDIDATE +en Increased sulfur amino acid level in urine HP:0033095 rdfs:label nl Increased sulfur amino acid level in urine NOT_TRANSLATED +en Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose HP:0033142 IAO:0000115 nl Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose NOT_TRANSLATED +en Increased superoxide dismutase level HP:0031836 rdfs:label nl Increased superoxide dismutase level NOT_TRANSLATED +en Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection HP:0005215 IAO:0000115 nl Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection NOT_TRANSLATED +en Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae HP:0005376 IAO:0000115 nl Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae NOT_TRANSLATED +en Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection HP:0002742 IAO:0000115 nl Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection NOT_TRANSLATED +en Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection HP:0002741 IAO:0000115 nl Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection NOT_TRANSLATED +en Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection HP:0002726 IAO:0000115 nl Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection NOT_TRANSLATED +en Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia HP:0002100 IAO:0000115 nl Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia NOT_TRANSLATED +en Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis HP:0005406 IAO:0000115 nl Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis NOT_TRANSLATED +en Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection HP:0002718 IAO:0000115 nl Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection NOT_TRANSLATED +en Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox HP:0005360 IAO:0000115 nl Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox NOT_TRANSLATED +en Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e HP:0005396 IAO:0000115 nl Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e NOT_TRANSLATED +en Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections HP:0011370 IAO:0000115 nl Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections NOT_TRANSLATED +en Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections HP:0410018 IAO:0000115 nl Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections NOT_TRANSLATED +en Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection HP:0002743 IAO:0000115 nl Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection NOT_TRANSLATED +en Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system HP:0001055 IAO:0000115 nl Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system NOT_TRANSLATED +en Increased susceptibility to fatigue HP:0003388 IAO:0000115 nl Increased susceptibility to fatigue NOT_TRANSLATED +en Increased susceptibility to fractures HP:0002659 rdfs:label nl Verhoogde gevoeligheid voor fracturen CANDIDATE +en Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection HP:0002841 IAO:0000115 nl Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection NOT_TRANSLATED +en Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis HP:0031123 IAO:0000115 nl Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis NOT_TRANSLATED +en Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus HP:0005353 IAO:0000115 nl Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus NOT_TRANSLATED +en Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents HP:0005420 IAO:0000115 nl Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents NOT_TRANSLATED +en Increased susceptibility to infection by the protozan parasite of the genus Leishmania HP:0007408 IAO:0000115 nl Increased susceptibility to infection by the protozan parasite of the genus Leishmania NOT_TRANSLATED +en Increased susceptibility to infections HP:0002719 IAO:0000115 nl Increased susceptibility to infections NOT_TRANSLATED +en Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration HP:0004891 IAO:0000115 nl Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration NOT_TRANSLATED +en Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent HP:0002842 IAO:0000115 nl Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent NOT_TRANSLATED +en Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent HP:0002740 IAO:0000115 nl Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent NOT_TRANSLATED +en Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections HP:0040268 IAO:0000115 nl Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections NOT_TRANSLATED +en Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection HP:0011275 IAO:0000115 nl Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection NOT_TRANSLATED +en Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection HP:0011274 IAO:0000115 nl Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection NOT_TRANSLATED +en Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system HP:0005390 IAO:0000115 nl Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system NOT_TRANSLATED +en Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media HP:0000403 IAO:0000115 nl Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media NOT_TRANSLATED +en Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection HP:0030885 IAO:0000115 nl Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection NOT_TRANSLATED +en Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection HP:0005386 IAO:0000115 nl Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection NOT_TRANSLATED +en Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections HP:0004880 IAO:0000115 nl Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections NOT_TRANSLATED +en Increased susceptibility to spontaneous sister chromatid exchange HP:0010998 rdfs:label nl Verhoogde gevoeligheid spontane zuster chromatide uitwisseling CANDIDATE +en Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections HP:0007499 IAO:0000115 nl Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections NOT_TRANSLATED +en Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections HP:0020096 IAO:0000115 nl Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections NOT_TRANSLATED +en Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae HP:0005366 IAO:0000115 nl Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae NOT_TRANSLATED +en Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections HP:0005429 IAO:0000115 nl Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections NOT_TRANSLATED +en Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections HP:0200117 IAO:0000115 nl Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections NOT_TRANSLATED +en Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection HP:0004429 IAO:0000115 nl Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection NOT_TRANSLATED +en Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias HP:0033214 IAO:0000115 nl Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias NOT_TRANSLATED +en Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections HP:0011371 IAO:0000115 nl Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections NOT_TRANSLATED +en Increased tear production HP:0031731 rdfs:label nl Verhoogde traan productie CANDIDATE +en Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA) HP:0025570 IAO:0000115 nl Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA) NOT_TRANSLATED +en Increased theta frequency activity in EEG HP:0031535 rdfs:label nl Verhoogde thèta frequentie activiteit in het EEG CANDIDATE +en Increased thickness (diameter) of ribs HP:0000900 IAO:0000115 nl Increased thickness (diameter) of ribs NOT_TRANSLATED +en Increased thickness (dimension along the axis of the bone) of the growth plate HP:0025369 IAO:0000115 nl Increased thickness (dimension along the axis of the bone) of the growth plate NOT_TRANSLATED +en Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip HP:0034414 IAO:0000115 nl Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip NOT_TRANSLATED +en Increased thickness of middle layer of the arcuate veins of the kidney HP:0033909 IAO:0000115 nl Increased thickness of middle layer of the arcuate veins of the kidney NOT_TRANSLATED +en Increased thickness of middle layer of the arterioles of the kidney HP:0033918 IAO:0000115 nl Increased thickness of middle layer of the arterioles of the kidney NOT_TRANSLATED +en Increased thickness of middle layer of the interlobular veins of the kidney HP:0033973 IAO:0000115 nl Increased thickness of middle layer of the interlobular veins of the kidney NOT_TRANSLATED +en Increased thickness of the external ear HP:0009894 IAO:0000115 nl Increased thickness of the external ear NOT_TRANSLATED +en Increased thickness of the helix of the ear HP:0000391 IAO:0000115 nl Increased thickness of the helix of the ear NOT_TRANSLATED +en Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10% HP:0033421 IAO:0000115 nl Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10% NOT_TRANSLATED +en Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective) HP:0000179 IAO:0000115 nl Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective) NOT_TRANSLATED +en Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney HP:0033911 IAO:0000115 nl Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED +en Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth HP:0033707 IAO:0000115 nl Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth NOT_TRANSLATED +en Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased HP:0033172 IAO:0000115 nl Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased NOT_TRANSLATED +en Increased thumb width without increased dorso-ventral dimension HP:0011304 IAO:0000115 nl Increased thumb width without increased dorso-ventral dimension NOT_TRANSLATED +en Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) HP:0001657 IAO:0000115 nl Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG) NOT_TRANSLATED +en Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex) HP:0012248 IAO:0000115 nl Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex) NOT_TRANSLATED +en Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec HP:0006677 IAO:0000115 nl Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec NOT_TRANSLATED +en Increased time to coagulation in the Russell's viper venom assay HP:0040244 IAO:0000115 nl Increased time to coagulation in the Russell's viper venom assay NOT_TRANSLATED +en Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms HP:0003645 IAO:0000115 nl Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms NOT_TRANSLATED +en Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT HP:0008151 IAO:0000115 nl Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT NOT_TRANSLATED +en Increased top to bottom height of vertebral bodies HP:0004570 IAO:0000115 nl Increased top to bottom height of vertebral bodies NOT_TRANSLATED +en Increased total bilirubin HP:0003573 rdfs:label nl Verhoog totaal bilirubine CANDIDATE +en Increased total hemolytic complement activity HP:0031905 rdfs:label nl Increased total hemolytic complement activity NOT_TRANSLATED +en Increased total iron binding capacity HP:0025196 rdfs:label nl Verhoogde totaal ijzerbindings capaciteit CANDIDATE +en Increased triceps skinfold thickness HP:0033172 rdfs:label nl Increased triceps skinfold thickness NOT_TRANSLATED +en Increased upper to lower segment ratio HP:0012774 rdfs:label nl Toegenomen upper-to-lower segment ratio CANDIDATE +en Increased uridine diphosphate glucose-4-epimerase level in plasma HP:0410194 rdfs:label nl Increased uridine diphosphate glucose-4-epimerase level in plasma NOT_TRANSLATED +en Increased uridine diphosphate glucose-4-epimerase level in red blood cells HP:0410197 rdfs:label nl Increased uridine diphosphate glucose-4-epimerase level in red blood cells NOT_TRANSLATED +en Increased urinary 1-methylhistidine HP:0410315 rdfs:label nl Increased urinary 1-methylhistidine NOT_TRANSLATED +en Increased urinary 11-deoxycorticosterone level HP:0032330 rdfs:label nl Increased urinary 11-deoxycorticosterone level NOT_TRANSLATED +en Increased urinary 11-deoxycortisol level HP:0032329 rdfs:label nl Increased urinary 11-deoxycortisol level NOT_TRANSLATED +en Increased urinary 11-deoxytetrahydrocorticosterone level HP:0032331 rdfs:label nl Increased urinary 11-deoxytetrahydrocorticosterone level NOT_TRANSLATED +en Increased urinary 3-methylhistidine HP:0410317 rdfs:label nl Increased urinary 3-methylhistidine NOT_TRANSLATED +en Increased urinary 8-oxo-7,8-dihydroguanosine level HP:0033984 rdfs:label nl Increased urinary 8-oxo-7,8-dihydroguanosine level NOT_TRANSLATED +en Increased urinary O-linked sialopeptides HP:0003461 rdfs:label nl Verhoogd urine O-sialopeptiden CANDIDATE +en Increased urinary copper concentration HP:0010839 rdfs:label nl Toegenomen urine koper concentratie CANDIDATE +en Increased urinary cortisol level HP:0012030 rdfs:label nl Toegenomen urine cortisol-niveau CANDIDATE +en Increased urinary cysteine level HP:0034467 rdfs:label nl Increased urinary cysteine level NOT_TRANSLATED +en Increased urinary disaccharide excretion HP:0012066 rdfs:label nl Verhoogde urine excretie disaccharide CANDIDATE +en Increased urinary epithelial cell count HP:0032211 rdfs:label nl Increased urinary epithelial cell count NOT_TRANSLATED +en Increased urinary excretion of galactosyl hydroxylysine HP:0031991 rdfs:label nl Increased urinary excretion of galactosyl hydroxylysine NOT_TRANSLATED +en Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins HP:0010471 IAO:0000115 nl Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins NOT_TRANSLATED +en Increased urinary fucosylated oligosaccharide HP:0410350 rdfs:label nl Increased urinary fucosylated oligosaccharide NOT_TRANSLATED +en Increased urinary galactosylated oligosaccharide HP:0410346 rdfs:label nl Increased urinary galactosylated oligosaccharide NOT_TRANSLATED +en Increased urinary glycerol HP:0040301 rdfs:label nl Verhoogd urine glycerol CANDIDATE +en Increased urinary hexanoic acid level HP:0034497 rdfs:label nl Increased urinary hexanoic acid level NOT_TRANSLATED +en Increased urinary high-mannose-type oligosaccharide HP:0410347 rdfs:label nl Increased urinary high-mannose-type oligosaccharide NOT_TRANSLATED +en Increased urinary hypoxanthine HP:0011814 rdfs:label nl Verhoogd urine hypoxanthine CANDIDATE +en Increased urinary mucus HP:0032068 rdfs:label nl Increased urinary mucus NOT_TRANSLATED +en Increased urinary multiantennary sialylated oligosaccharide HP:0410348 rdfs:label nl Increased urinary multiantennary sialylated oligosaccharide NOT_TRANSLATED +en Increased urinary neutrophil gelatinase-associated lipocalin HP:0020130 rdfs:label nl Increased urinary neutrophil gelatinase-associated lipocalin NOT_TRANSLATED +en Increased urinary non-proteinogenic amino acid level HP:0033098 rdfs:label nl Increased urinary non-proteinogenic amino acid level NOT_TRANSLATED +en Increased urinary orosomucoid HP:0032377 rdfs:label nl Increased urinary orosomucoid NOT_TRANSLATED +en Increased urinary phosphoserine level HP:0032405 rdfs:label nl Increased urinary phosphoserine level NOT_TRANSLATED +en Increased urinary polyhexose HP:0410345 rdfs:label nl Increased urinary polyhexose NOT_TRANSLATED +en Increased urinary porphobilinogen HP:0012217 rdfs:label nl Verhoogd urine porfobilinogeen CANDIDATE +en Increased urinary potassium HP:0003081 rdfs:label nl Verhoogd urine kalium CANDIDATE +en Increased urinary renal tubular epithelial cell count HP:0032213 rdfs:label nl Increased urinary renal tubular epithelial cell count NOT_TRANSLATED +en Increased urinary sedoheptulose HP:0025157 rdfs:label nl Verhoogd urine sedoheptulose CANDIDATE +en Increased urinary squamous epithelial cell count HP:0032212 rdfs:label nl Increased urinary squamous epithelial cell count NOT_TRANSLATED +en Increased urinary sulfate HP:0012613 rdfs:label nl Verhoogd urine sulfaat CANDIDATE +en Increased urinary sulfite HP:0011942 rdfs:label nl Verhoogd urine sulfiet CANDIDATE +en Increased urinary taurine HP:0003166 rdfs:label nl Verhoogd taurine in urine CANDIDATE +en Increased urinary thiosulfate HP:0011943 rdfs:label nl Verhoogd urine thiosulfaat CANDIDATE +en Increased urinary transitional epithelial cell count HP:0032214 rdfs:label nl Increased urinary transitional epithelial cell count NOT_TRANSLATED +en Increased urinary type 1 collagen N-terminal telopeptide level HP:0032208 rdfs:label nl Increased urinary type 1 collagen N-terminal telopeptide level NOT_TRANSLATED +en Increased urinary zinc level HP:0025639 rdfs:label nl Increased urinary zinc level NOT_TRANSLATED +en Increased urine alpha-ketoglutarate concentration HP:0012402 rdfs:label nl Increased urine alpha-ketoglutarate concentration NOT_TRANSLATED +en Increased urine deoxypyridinoline level HP:0033355 rdfs:label nl Increased urine deoxypyridinoline level NOT_TRANSLATED +en Increased urine glutamate level HP:0033094 rdfs:label nl Increased urine glutamate level NOT_TRANSLATED +en Increased urine harderoporphyrin level HP:0033627 rdfs:label nl Increased urine harderoporphyrin level NOT_TRANSLATED +en Increased urine isobutyrylglycine concentration HP:0500257 rdfs:label nl Increased urine isobutyrylglycine concentration NOT_TRANSLATED +en Increased urine neutrophil count HP:0020134 rdfs:label nl Increased urine neutrophil count NOT_TRANSLATED +en Increased urine proteinogenic amino acid derivative level HP:0033097 rdfs:label nl Increased urine proteinogenic amino acid derivative level NOT_TRANSLATED +en Increased urine sebacic acid concentration HP:0500252 rdfs:label nl Increased urine sebacic acid concentration NOT_TRANSLATED +en Increased urine succinate level HP:0033092 rdfs:label nl Increased urine succinate level NOT_TRANSLATED +en Increased urine urobilinogen HP:0031890 rdfs:label nl Increased urine urobilinogen NOT_TRANSLATED +en Increased variability in muscle fiber diameter HP:0003557 rdfs:label nl Verhoogde variabiliteit in spiervezel diameter CANDIDATE +en Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle HP:0031862 IAO:0000115 nl Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle NOT_TRANSLATED +en Increased vertebral height HP:0004570 rdfs:label nl Verhoogde wervel hoogte CANDIDATE +en Increased vertical cup-to-disc ratio HP:0031973 rdfs:label nl Increased vertical cup-to-disc ratio NOT_TRANSLATED +en Increased vertical cup-to-disc ratio - 0.6 HP:0031974 rdfs:label nl Increased vertical cup-to-disc ratio - 0.6 NOT_TRANSLATED +en Increased vertical cup-to-disc ratio - 0.7 HP:0031975 rdfs:label nl Increased vertical cup-to-disc ratio - 0.7 NOT_TRANSLATED +en Increased vertical cup-to-disc ratio - 0.8 HP:0031976 rdfs:label nl Increased vertical cup-to-disc ratio - 0.8 NOT_TRANSLATED +en Increased vertical cup-to-disc ratio - 0.9 HP:0031977 rdfs:label nl Increased vertical cup-to-disc ratio - 0.9 NOT_TRANSLATED +en Increased vertical cup-to-disc ratio - 1.0 HP:0031978 rdfs:label nl Increased vertical cup-to-disc ratio - 1.0 NOT_TRANSLATED +en Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain HP:0007074 IAO:0000115 nl Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain NOT_TRANSLATED +en Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin HP:0400000 IAO:0000115 nl Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin NOT_TRANSLATED +en Increased visceral epithelial cell size, with or without cytoplasmic protein droplets HP:0020133 IAO:0000115 nl Increased visceral epithelial cell size, with or without cytoplasmic protein droplets NOT_TRANSLATED +en Increased volume and globular shape of the anteroinferior aspect of the nose HP:0000414 IAO:0000115 nl Increased volume and globular shape of the anteroinferior aspect of the nose NOT_TRANSLATED +en Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots HP:0000679 IAO:0000115 nl Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots NOT_TRANSLATED +en Increased volume of the earlobe, that is, abnormally prominent ear lobules HP:0009748 IAO:0000115 nl Increased volume of the earlobe, that is, abnormally prominent ear lobules NOT_TRANSLATED +en Increased waist to hip ratio HP:0031819 rdfs:label nl Increased waist to hip ratio NOT_TRANSLATED +en Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement HP:0031819 IAO:0000115 nl Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement NOT_TRANSLATED +en Increased width (breadth) of metaphyses of the arms HP:0003856 IAO:0000115 nl Increased width (breadth) of metaphyses of the arms NOT_TRANSLATED +en Increased width (cross-sectional diameter) of the clavicles HP:0000916 IAO:0000115 nl Increased width (cross-sectional diameter) of the clavicles NOT_TRANSLATED +en Increased width of a non-thumb digit of the hand HP:0001500 IAO:0000115 nl Increased width of a non-thumb digit of the hand NOT_TRANSLATED +en Increased width of nail HP:0001821 IAO:0000115 nl Increased width of nail NOT_TRANSLATED +en Increased width of phalanx of one or more toes HP:0010174 IAO:0000115 nl Increased width of phalanx of one or more toes NOT_TRANSLATED +en Increased width of proximal phalanx of big toe HP:0010086 IAO:0000115 nl Increased width of proximal phalanx of big toe NOT_TRANSLATED +en Increased width of ribs HP:0000885 IAO:0000115 nl Increased width of ribs NOT_TRANSLATED +en Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0010027 IAO:0000115 nl Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Increased width of the alveolar ridges HP:0009085 IAO:0000115 nl Increased width of the alveolar ridges NOT_TRANSLATED +en Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology HP:0033376 IAO:0000115 nl Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology NOT_TRANSLATED +en Increased width of the columella HP:0010761 IAO:0000115 nl Increased width of the columella NOT_TRANSLATED +en Increased width of the cross sectional diameter of the fibula HP:0012107 IAO:0000115 nl Increased width of the cross sectional diameter of the fibula NOT_TRANSLATED +en Increased width of the diaphysis of long bones HP:0006371 IAO:0000115 nl Increased width of the diaphysis of long bones NOT_TRANSLATED +en Increased width of the distal part of the shaft (metaphysis) of the femur HP:0006387 IAO:0000115 nl Increased width of the distal part of the shaft (metaphysis) of the femur NOT_TRANSLATED +en Increased width of the distal phalanx of the 2nd finger HP:0009558 IAO:0000115 nl Increased width of the distal phalanx of the 2nd finger NOT_TRANSLATED +en Increased width of the distal phalanx of the 3rd finger HP:0009422 IAO:0000115 nl Increased width of the distal phalanx of the 3rd finger NOT_TRANSLATED +en Increased width of the distal phalanx of the 4th finger HP:0009292 IAO:0000115 nl Increased width of the distal phalanx of the 4th finger NOT_TRANSLATED +en Increased width of the distal phalanx of the 5th finger HP:0009240 IAO:0000115 nl Increased width of the distal phalanx of the 5th finger NOT_TRANSLATED +en Increased width of the distal phalanx of thumb HP:0009642 IAO:0000115 nl Increased width of the distal phalanx of thumb NOT_TRANSLATED +en Increased width of the distal phalanx of toe of one or more toes HP:0010186 IAO:0000115 nl Increased width of the distal phalanx of toe of one or more toes NOT_TRANSLATED +en Increased width of the distal segment of a finger HP:0011300 IAO:0000115 nl Increased width of the distal segment of a finger NOT_TRANSLATED +en Increased width of the femoral head HP:0008804 IAO:0000115 nl Increased width of the femoral head NOT_TRANSLATED +en Increased width of the humeral diaphysis HP:0003935 IAO:0000115 nl Increased width of the humeral diaphysis NOT_TRANSLATED +en Increased width of the humeral epiphyseal growth plate HP:0003906 IAO:0000115 nl Increased width of the humeral epiphyseal growth plate NOT_TRANSLATED +en Increased width of the humeral epiphysis HP:0003903 IAO:0000115 nl Increased width of the humeral epiphysis NOT_TRANSLATED +en Increased width of the inferred cross-section of the inferior crus HP:0011237 IAO:0000115 nl Increased width of the inferred cross-section of the inferior crus NOT_TRANSLATED +en Increased width of the ischium, which forms the lower and back part of the hip bone HP:0100865 IAO:0000115 nl Increased width of the ischium, which forms the lower and back part of the hip bone NOT_TRANSLATED +en Increased width of the middle phalanx of finger HP:0009844 IAO:0000115 nl Increased width of the middle phalanx of finger NOT_TRANSLATED +en Increased width of the middle phalanx of the 3rd finger HP:0009430 IAO:0000115 nl Increased width of the middle phalanx of the 3rd finger NOT_TRANSLATED +en Increased width of the middle phalanx of the 4th finger HP:0009293 IAO:0000115 nl Increased width of the middle phalanx of the 4th finger NOT_TRANSLATED +en Increased width of the middle phalanx of the 5th finger HP:0009169 IAO:0000115 nl Increased width of the middle phalanx of the 5th finger NOT_TRANSLATED +en Increased width of the middle phalanx of the second finger HP:0009569 IAO:0000115 nl Increased width of the middle phalanx of the second finger NOT_TRANSLATED +en Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue HP:0011822 IAO:0000115 nl Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue NOT_TRANSLATED +en Increased width of the nasal ridge HP:0012811 IAO:0000115 nl Increased width of the nasal ridge NOT_TRANSLATED +en Increased width of the phalanges of the 3rd finger HP:0009440 IAO:0000115 nl Increased width of the phalanges of the 3rd finger NOT_TRANSLATED +en Increased width of the phalanges of the 4th finger HP:0009404 IAO:0000115 nl Increased width of the phalanges of the 4th finger NOT_TRANSLATED +en Increased width of the phalanges of the 5th finger HP:0009374 IAO:0000115 nl Increased width of the phalanges of the 5th finger NOT_TRANSLATED +en Increased width of the phalanges of the hand HP:0009768 IAO:0000115 nl Increased width of the phalanges of the hand NOT_TRANSLATED +en Increased width of the proximal part of the shaft (metaphysis) of the femur HP:0008783 IAO:0000115 nl Increased width of the proximal part of the shaft (metaphysis) of the femur NOT_TRANSLATED +en Increased width of the proximal phalanges of the finger HP:0009852 IAO:0000115 nl Increased width of the proximal phalanges of the finger NOT_TRANSLATED +en Increased width of the proximal phalanx of the 2nd finger HP:0009581 IAO:0000115 nl Increased width of the proximal phalanx of the 2nd finger NOT_TRANSLATED +en Increased width of the proximal phalanx of the 3rd finger HP:0009450 IAO:0000115 nl Increased width of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en Increased width of the proximal phalanx of the 4th finger HP:0009310 IAO:0000115 nl Increased width of the proximal phalanx of the 4th finger NOT_TRANSLATED +en Increased width of the proximal phalanx of the 5th finger HP:0009227 IAO:0000115 nl Increased width of the proximal phalanx of the 5th finger NOT_TRANSLATED +en Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009630 IAO:0000115 nl Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Increased width of the radius HP:0003981 IAO:0000115 nl Increased width of the radius NOT_TRANSLATED +en Increased width of the skin of vermilion border region of upper lip HP:0012471 IAO:0000115 nl Increased width of the skin of vermilion border region of upper lip NOT_TRANSLATED +en Increased width of the skull HP:0002682 IAO:0000115 nl Increased width of the skull NOT_TRANSLATED +en Increased width of the superior cerebellar peduncle HP:0002404 IAO:0000115 nl Increased width of the superior cerebellar peduncle NOT_TRANSLATED +en Increased width of the ulna HP:0003993 IAO:0000115 nl Increased width of the ulna NOT_TRANSLATED +en Increased width of the upper lip HP:0011341 IAO:0000115 nl Increased width of the upper lip NOT_TRANSLATED +en Increased width of the uvula (subjective finding) HP:0010809 IAO:0000115 nl Increased width of the uvula (subjective finding) NOT_TRANSLATED +en Incyclophoria HP:0031778 rdfs:label nl Incyclophoria NOT_TRANSLATED +en Incyclotropia HP:0031726 rdfs:label nl Incyclotropie CANDIDATE +en Indeterminate ventricular axis HP:0033570 rdfs:label nl Indeterminate ventricular axis NOT_TRANSLATED +en Index finger dermatoglyphic radial loop HP:0007566 rdfs:label nl Index finger dermatoglyphic radial loop NOT_TRANSLATED +en Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient HP:0034420 IAO:0000115 nl Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient NOT_TRANSLATED +en Individuals affected by dichromacy possess only two types of cones, instead of three HP:0011518 IAO:0000115 nl Individuals affected by dichromacy possess only two types of cones, instead of three NOT_TRANSLATED +en Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc HP:0002193 IAO:0000115 nl Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc NOT_TRANSLATED +en Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones HP:0011519 IAO:0000115 nl Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones NOT_TRANSLATED +en Induced vaginal delivery HP:0030369 rdfs:label nl Geïnduceerde vaginale geboorte CANDIDATE +en Indurated nodule HP:0032217 rdfs:label nl Indurated nodule NOT_TRANSLATED +en Ineffective esophageal peristalsis HP:0031857 rdfs:label nl Ineffective esophageal peristalsis NOT_TRANSLATED +en Inequality of refractive power of the two eyes HP:0012803 IAO:0000115 nl Inequality of refractive power of the two eyes NOT_TRANSLATED +en Inertia HP:0030216 rdfs:label nl Inertie CANDIDATE +en Infancy onset short-trunk short stature HP:0011406 rdfs:label nl Infancy onset van korte-romp kleine lengte CANDIDATE +en Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation HP:4000038 IAO:0000115 nl Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation NOT_TRANSLATED +en Infantile axial hypotonia HP:0009062 rdfs:label nl Infantiele axiale hypotonie CANDIDATE +en Infantile constant esotropia HP:0031761 rdfs:label nl Infantiele (constante) esotropie CANDIDATE +en Infantile constant exotropia HP:0032009 rdfs:label nl Infantile constant exotropia NOT_TRANSLATED +en Infantile encephalopathy HP:0007105 rdfs:label nl Infantiele encefalopathie CANDIDATE +en Infantile hydrocele HP:4000038 rdfs:label nl Infantile hydrocele NOT_TRANSLATED +en Infantile hypercalcemia HP:0008250 rdfs:label nl Infantiele hypercalciëmie CANDIDATE +en Infantile muscular hypotonia HP:0008947 rdfs:label nl Infantiele musculaire hypotonie CANDIDATE +en Infantile onset HP:0003593 rdfs:label nl Infantiele onset CANDIDATE +en Infantile sensorineural hearing impairment HP:0008610 rdfs:label nl Infantiele perceptieve slechthorendheid CANDIDATE +en Infantile spasms HP:0012469 rdfs:label nl Infantiele spasmen CANDIDATE +en Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age HP:0000270 IAO:0000115 nl Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age NOT_TRANSLATED +en Infection associated neutropenia HP:0410256 rdfs:label nl Infection associated neutropenia NOT_TRANSLATED +en Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii HP:0032249 IAO:0000115 nl Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii NOT_TRANSLATED +en Infection due to encapsulated bacteria HP:0020097 rdfs:label nl Infection due to encapsulated bacteria NOT_TRANSLATED +en Infection following live vaccination HP:0020085 rdfs:label nl Infection following live vaccination NOT_TRANSLATED +en Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction HP:0012302 IAO:0000115 nl Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction NOT_TRANSLATED +en Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum HP:0032258 IAO:0000115 nl Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum NOT_TRANSLATED +en Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis HP:0020103 IAO:0000115 nl Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis NOT_TRANSLATED +en Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails HP:0032516 IAO:0000115 nl Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails NOT_TRANSLATED +en Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise HP:0020090 IAO:0000115 nl Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise NOT_TRANSLATED +en Infection with live attenuated rotavirus vaccine following vaccination HP:0020091 IAO:0000115 nl Infection with live attenuated rotavirus vaccine following vaccination NOT_TRANSLATED +en Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection HP:0032326 IAO:0000115 nl Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection NOT_TRANSLATED +en Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases HP:0020088 IAO:0000115 nl Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases NOT_TRANSLATED +en Infection with the rubella virus of the live-attenuated vaccine HP:0020089 IAO:0000115 nl Infection with the rubella virus of the live-attenuated vaccine NOT_TRANSLATED +en Infection with the yellow fever virus of the live-attenuated vaccine HP:0034310 IAO:0000115 nl Infection with the yellow fever virus of the live-attenuated vaccine NOT_TRANSLATED +en Infection-related seizure HP:0032892 rdfs:label nl Infection-related seizure NOT_TRANSLATED +en Infection-ssociated lymphopenia HP:4000034 rdfs:label nl Infection-ssociated lymphopenia NOT_TRANSLATED +en Infections of the skin that happen multiple times HP:0001581 IAO:0000115 nl Infections of the skin that happen multiple times NOT_TRANSLATED +en Infectious encephalitis HP:0002383 rdfs:label nl Encefalitis CANDIDATE +en Inferior cerebellar vermis hypoplasia HP:0007068 rdfs:label nl Lagere vermis hypoplasie CANDIDATE +en Inferior chorioretinal coloboma HP:0031613 rdfs:label nl Inferieur chorioretinaal coloboom CANDIDATE +en Inferior crossed fused renal ectopia HP:0034230 rdfs:label nl Inferior crossed fused renal ectopia NOT_TRANSLATED +en Inferior lens subluxation HP:0008494 rdfs:label nl Inferior lens subluxation NOT_TRANSLATED +en Inferior malposition of the lower eyelid margin without eyelid eversion HP:0030802 IAO:0000115 nl Inferior malposition of the lower eyelid margin without eyelid eversion NOT_TRANSLATED +en Inferior mediastinal mass HP:0033826 rdfs:label nl Inferior mediastinal mass NOT_TRANSLATED +en Inferior oblique muscle overaction HP:0025599 rdfs:label nl Musculus obliquus inferior overbelasting CANDIDATE +en Inferior oblique muscle restriction HP:0025597 rdfs:label nl Musculus obliquus inferior spierbeperking CANDIDATE +en Inferior oblique muscle underaction HP:0031741 rdfs:label nl Musculus obliquus inferior onderbelasting CANDIDATE +en Inferior oblique muscle weakness HP:0025598 rdfs:label nl Spierzwakte van de musculus obliquus inferior CANDIDATE +en Inferior rectus muscle overaction HP:0031743 rdfs:label nl Musculus rectus inferior bulbi overbelasting CANDIDATE +en Inferior rectus muscle restriction HP:0025602 rdfs:label nl Musculus rectus inferior bulbi spierbeperking CANDIDATE +en Inferior rectus muscle underaction HP:0031742 rdfs:label nl Musculus rectus inferior onderbelasting CANDIDATE +en Inferior rectus muscle weakness HP:0025601 rdfs:label nl Spierzwakte van de musculus rectus inferior bulbi CANDIDATE +en Inferior retinal coloboma HP:0031614 rdfs:label nl Inferieur retinaal coloboom CANDIDATE +en Inferiorly positioned umbilicus HP:0032527 rdfs:label nl Inferiorly positioned umbilicus NOT_TRANSLATED +en Infertility HP:0000789 rdfs:label nl Onvruchtbaarheid CANDIDATE +en Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia HP:0410147 IAO:0000115 nl Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia NOT_TRANSLATED +en Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes) HP:0033197 IAO:0000115 nl Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes) NOT_TRANSLATED +en Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain HP:0032635 IAO:0000115 nl Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain NOT_TRANSLATED +en Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus HP:0410151 IAO:0000115 nl Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus NOT_TRANSLATED +en Infiltration of portal fields by inflammatory cells HP:0033196 IAO:0000115 nl Infiltration of portal fields by inflammatory cells NOT_TRANSLATED +en Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls HP:0012798 IAO:0000115 nl Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls NOT_TRANSLATED +en Infiltration of the renal tubular epithelium by lymphocytes HP:0032589 IAO:0000115 nl Infiltration of the renal tubular epithelium by lymphocytes NOT_TRANSLATED +en Infiltration of the renal tubular epithelium by neutrophils HP:0032590 IAO:0000115 nl Infiltration of the renal tubular epithelium by neutrophils NOT_TRANSLATED +en Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry HP:0032636 IAO:0000115 nl Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry NOT_TRANSLATED +en Inflamation of the brain related to infection by Epstein-Barr virus HP:0033509 IAO:0000115 nl Inflamation of the brain related to infection by Epstein-Barr virus NOT_TRANSLATED +en Inflamation of the brain related to infection by an enterovirus HP:0034285 IAO:0000115 nl Inflamation of the brain related to infection by an enterovirus NOT_TRANSLATED +en Inflamation of the eyelid due to overactivity of the sebaceous gland HP:0500046 IAO:0000115 nl Inflamation of the eyelid due to overactivity of the sebaceous gland NOT_TRANSLATED +en Inflammation (due to infection or irritation) of the pharynx HP:0025439 IAO:0000115 nl Inflammation (due to infection or irritation) of the pharynx NOT_TRANSLATED +en Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways HP:0011946 IAO:0000115 nl Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways NOT_TRANSLATED +en Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues HP:0045029 IAO:0000115 nl Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues NOT_TRANSLATED +en Inflammation in any serous cavity HP:0045073 IAO:0000115 nl Inflammation in any serous cavity NOT_TRANSLATED +en Inflammation of a joint HP:0001369 IAO:0000115 nl Inflammation of a joint NOT_TRANSLATED +en Inflammation of a lymph node HP:0002840 IAO:0000115 nl Inflammation of a lymph node NOT_TRANSLATED +en Inflammation of a nerve HP:0031002 IAO:0000115 nl Inflammation of a nerve NOT_TRANSLATED +en Inflammation of a salivary gland HP:0031281 IAO:0000115 nl Inflammation of a salivary gland NOT_TRANSLATED +en Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein) HP:0002638 IAO:0000115 nl Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein) NOT_TRANSLATED +en Inflammation of a synovial bursa HP:0025232 IAO:0000115 nl Inflammation of a synovial bursa NOT_TRANSLATED +en Inflammation of a tendon HP:0025230 IAO:0000115 nl Inflammation of a tendon NOT_TRANSLATED +en Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney HP:0033913 IAO:0000115 nl Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney NOT_TRANSLATED +en Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) HP:0004418 IAO:0000115 nl Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) NOT_TRANSLATED +en Inflammation of adipose tissue HP:0012490 IAO:0000115 nl Inflammation of adipose tissue NOT_TRANSLATED +en Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural HP:0033906 IAO:0000115 nl Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural NOT_TRANSLATED +en Inflammation of an intervertebral disc or disk space HP:0025679 IAO:0000115 nl Inflammation of an intervertebral disc or disk space NOT_TRANSLATED +en Inflammation of any part of the lung parenchyma HP:0002090 IAO:0000115 nl Inflammation of any part of the lung parenchyma NOT_TRANSLATED +en Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural HP:0033917 IAO:0000115 nl Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural NOT_TRANSLATED +en Inflammation of blood vessel HP:0002633 IAO:0000115 nl Inflammation of blood vessel NOT_TRANSLATED +en Inflammation of cartilage HP:0100662 IAO:0000115 nl Inflammation of cartilage NOT_TRANSLATED +en Inflammation of fascia, the tissue under the skin and over the muscle HP:0100537 IAO:0000115 nl Inflammation of fascia, the tissue under the skin and over the muscle NOT_TRANSLATED +en Inflammation of glans penis HP:0034438 IAO:0000115 nl Inflammation of glans penis NOT_TRANSLATED +en Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells HP:0032646 IAO:0000115 nl Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells NOT_TRANSLATED +en Inflammation of one or all portions of the uveal tract HP:0000554 IAO:0000115 nl Inflammation of one or all portions of the uveal tract NOT_TRANSLATED +en Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion HP:0025188 IAO:0000115 nl Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion NOT_TRANSLATED +en Inflammation of the Achilles tendon HP:0025273 IAO:0000115 nl Inflammation of the Achilles tendon NOT_TRANSLATED +en Inflammation of the alimentary part of the gastrointestinal system HP:0004386 IAO:0000115 nl Inflammation of the alimentary part of the gastrointestinal system NOT_TRANSLATED +en Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both HP:0030151 IAO:0000115 nl Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both NOT_TRANSLATED +en Inflammation of the blood vessels within the brain HP:0005318 IAO:0000115 nl Inflammation of the blood vessels within the brain NOT_TRANSLATED +en Inflammation of the bronchioles HP:0011950 IAO:0000115 nl Inflammation of the bronchioles NOT_TRANSLATED +en Inflammation of the cartilage of the external ear HP:0200047 IAO:0000115 nl Inflammation of the cartilage of the external ear NOT_TRANSLATED +en Inflammation of the cartilage of the nose HP:0033380 IAO:0000115 nl Inflammation of the cartilage of the nose NOT_TRANSLATED +en Inflammation of the conjunctiva HP:0000509 IAO:0000115 nl Inflammation of the conjunctiva NOT_TRANSLATED +en Inflammation of the connective and adipose tissues surrounding the kidney HP:0012784 IAO:0000115 nl Inflammation of the connective and adipose tissues surrounding the kidney NOT_TRANSLATED +en Inflammation of the cornea HP:0000491 IAO:0000115 nl Inflammation of the cornea NOT_TRANSLATED +en Inflammation of the cornea and conjunctiva HP:0001096 IAO:0000115 nl Inflammation of the cornea and conjunctiva NOT_TRANSLATED +en Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells HP:0006679 IAO:0000115 nl Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells NOT_TRANSLATED +en Inflammation of the entire colon HP:0033256 IAO:0000115 nl Inflammation of the entire colon NOT_TRANSLATED +en Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye HP:0100534 IAO:0000115 nl Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye NOT_TRANSLATED +en Inflammation of the esophagus HP:0100633 IAO:0000115 nl Inflammation of the esophagus NOT_TRANSLATED +en Inflammation of the eye, parts of the eye or the periorbital region HP:0100533 IAO:0000115 nl Inflammation of the eye, parts of the eye or the periorbital region NOT_TRANSLATED +en Inflammation of the eyelids HP:0000498 IAO:0000115 nl Inflammation of the eyelids NOT_TRANSLATED +en Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit HP:0012276 IAO:0000115 nl Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit NOT_TRANSLATED +en Inflammation of the gingiva HP:0000230 IAO:0000115 nl Inflammation of the gingiva NOT_TRANSLATED +en Inflammation of the ileum HP:0032564 IAO:0000115 nl Inflammation of the ileum NOT_TRANSLATED +en Inflammation of the inner lining of the uterus (endometrium) HP:0025636 IAO:0000115 nl Inflammation of the inner lining of the uterus (endometrium) NOT_TRANSLATED +en Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural HP:0033919 IAO:0000115 nl Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural NOT_TRANSLATED +en Inflammation of the inner or middle layer of the arcuate arteries of the kidney HP:0033948 IAO:0000115 nl Inflammation of the inner or middle layer of the arcuate arteries of the kidney NOT_TRANSLATED +en Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural HP:0033967 IAO:0000115 nl Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural NOT_TRANSLATED +en Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine HP:0033165 IAO:0000115 nl Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine NOT_TRANSLATED +en Inflammation of the iris HP:0001101 IAO:0000115 nl Inflammation of the iris NOT_TRANSLATED +en Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi HP:0012387 IAO:0000115 nl Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi NOT_TRANSLATED +en Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness HP:0012388 IAO:0000115 nl Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness NOT_TRANSLATED +en Inflammation of the large intestine HP:0002037 rdfs:label nl Ontsteking van de dikke darm CANDIDATE +en Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines HP:0033430 IAO:0000115 nl Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines NOT_TRANSLATED +en Inflammation of the lining of the middle section of the small intestine HP:0033143 IAO:0000115 nl Inflammation of the lining of the middle section of the small intestine NOT_TRANSLATED +en Inflammation of the lining of the upper small intestine (duodenum) HP:0033117 IAO:0000115 nl Inflammation of the lining of the upper small intestine (duodenum) NOT_TRANSLATED +en Inflammation of the lip HP:0100825 IAO:0000115 nl Inflammation of the lip NOT_TRANSLATED +en Inflammation of the liver HP:0012115 IAO:0000115 nl Inflammation of the liver NOT_TRANSLATED +en Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma HP:0032220 IAO:0000115 nl Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma NOT_TRANSLATED +en Inflammation of the liver due to infection with a virus HP:0006562 IAO:0000115 nl Inflammation of the liver due to infection with a virus NOT_TRANSLATED +en Inflammation of the liver due to infection with enterovirus HP:0001412 IAO:0000115 nl Inflammation of the liver due to infection with enterovirus NOT_TRANSLATED +en Inflammation of the meninges HP:0001287 IAO:0000115 nl Inflammation of the meninges NOT_TRANSLATED +en Inflammation of the meninges related to infection by Epstein-Barr virus HP:0033508 IAO:0000115 nl Inflammation of the meninges related to infection by Epstein-Barr virus NOT_TRANSLATED +en Inflammation of the myocardium HP:0012819 IAO:0000115 nl Inflammation of the myocardium NOT_TRANSLATED +en Inflammation of the nasal mucosa with nasal congestion HP:0012384 IAO:0000115 nl Inflammation of the nasal mucosa with nasal congestion NOT_TRANSLATED +en Inflammation of the nasolacrimal sac HP:0000620 IAO:0000115 nl Inflammation of the nasolacrimal sac NOT_TRANSLATED +en Inflammation of the optic nerve HP:0100653 IAO:0000115 nl Inflammation of the optic nerve NOT_TRANSLATED +en Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction HP:0000246 IAO:0000115 nl Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction NOT_TRANSLATED +en Inflammation of the parotid gland HP:0011850 IAO:0000115 nl Inflammation of the parotid gland NOT_TRANSLATED +en Inflammation of the periodontium HP:0000704 IAO:0000115 nl Inflammation of the periodontium NOT_TRANSLATED +en Inflammation of the periosteum HP:0040165 IAO:0000115 nl Inflammation of the periosteum NOT_TRANSLATED +en Inflammation of the peritoneum HP:0002586 IAO:0000115 nl Inflammation of the peritoneum NOT_TRANSLATED +en Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells HP:0033862 IAO:0000115 nl Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells NOT_TRANSLATED +en Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells HP:0033865 IAO:0000115 nl Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells NOT_TRANSLATED +en Inflammation of the pleura HP:0002102 IAO:0000115 nl Inflammation of the pleura NOT_TRANSLATED +en Inflammation of the renal glomeruli HP:0000099 IAO:0000115 nl Inflammation of the renal glomeruli NOT_TRANSLATED +en Inflammation of the retina of the eye HP:0032118 IAO:0000115 nl Inflammation of the retina of the eye NOT_TRANSLATED +en Inflammation of the sac-like covering around the heart (pericardium) HP:0001701 IAO:0000115 nl Inflammation of the sac-like covering around the heart (pericardium) NOT_TRANSLATED +en Inflammation of the sacroiliac joint, generally accompanied by lower back pain HP:0012317 IAO:0000115 nl Inflammation of the sacroiliac joint, generally accompanied by lower back pain NOT_TRANSLATED +en Inflammation of the sclera HP:0100532 IAO:0000115 nl Inflammation of the sclera NOT_TRANSLATED +en Inflammation of the spinal cord HP:0012486 IAO:0000115 nl Inflammation of the spinal cord NOT_TRANSLATED +en Inflammation of the synovial membrane of the sacroiliac joint HP:0012449 IAO:0000115 nl Inflammation of the synovial membrane of the sacroiliac joint NOT_TRANSLATED +en Inflammation of the thyroid gland HP:0100646 IAO:0000115 nl Inflammation of the thyroid gland NOT_TRANSLATED +en Inflammation of the tongue HP:0000206 IAO:0000115 nl Inflammation of the tongue NOT_TRANSLATED +en Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis HP:0011110 IAO:0000115 nl Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis NOT_TRANSLATED +en Inflammation of the urethra HP:0500006 IAO:0000115 nl Inflammation of the urethra NOT_TRANSLATED +en Inflammation of the urinary bladder HP:0100577 IAO:0000115 nl Inflammation of the urinary bladder NOT_TRANSLATED +en Inflammation of the uterine cervix HP:0030160 IAO:0000115 nl Inflammation of the uterine cervix NOT_TRANSLATED +en Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid HP:0012121 IAO:0000115 nl Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid NOT_TRANSLATED +en Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber HP:0012122 IAO:0000115 nl Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber NOT_TRANSLATED +en Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid HP:0012123 IAO:0000115 nl Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid NOT_TRANSLATED +en Inflammation of the uveal tract in which the primary site of inflammation is the vitreous HP:0012124 IAO:0000115 nl Inflammation of the uveal tract in which the primary site of inflammation is the vitreous NOT_TRANSLATED +en Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge HP:0030683 IAO:0000115 nl Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge NOT_TRANSLATED +en Inflammation of the vertebrae (vertebral bodies) or spine HP:0033631 IAO:0000115 nl Inflammation of the vertebrae (vertebral bodies) or spine NOT_TRANSLATED +en Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity HP:0011531 IAO:0000115 nl Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity NOT_TRANSLATED +en Inflammation or infection of the external auditory canal (EAC), the auricle, or both HP:0410017 IAO:0000115 nl Inflammation or infection of the external auditory canal (EAC), the auricle, or both NOT_TRANSLATED +en Inflammation or infection of the middle ear HP:0000388 IAO:0000115 nl Inflammation or infection of the middle ear NOT_TRANSLATED +en Inflammation surrounding hair follicles HP:0012322 IAO:0000115 nl Inflammation surrounding hair follicles NOT_TRANSLATED +en Inflammation, or an inflammatory state in the large intestine HP:0002037 IAO:0000115 nl Inflammation, or an inflammatory state in the large intestine NOT_TRANSLATED +en Inflammatory abnormality of the eye HP:0100533 rdfs:label nl Infectieuze afwijking van het oog CANDIDATE +en Inflammatory abnormality of the skin HP:0011123 rdfs:label nl Infectieuze afwijking van de huid CANDIDATE +en Inflammatory arteriopathy HP:0005291 rdfs:label nl Inflammatoire arteriopathie CANDIDATE +en Inflammatory cap polyp HP:0025198 rdfs:label nl Inflammatory cap polyp NOT_TRANSLATED +en Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer) HP:0033392 IAO:0000115 nl Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer) NOT_TRANSLATED +en Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule HP:0025084 IAO:0000115 nl Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule NOT_TRANSLATED +en Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures HP:0001370 IAO:0000115 nl Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures NOT_TRANSLATED +en Inflammatory chilblain-like nodules on the feet and/or toes HP:0034036 IAO:0000115 nl Inflammatory chilblain-like nodules on the feet and/or toes NOT_TRANSLATED +en Inflammatory chilblain-like nodules on the hands and/or fingers HP:0034037 IAO:0000115 nl Inflammatory chilblain-like nodules on the hands and/or fingers NOT_TRANSLATED +en Inflammatory myopathy HP:0009071 rdfs:label nl Inflammatoire myopathie CANDIDATE +en Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron HP:0100820 IAO:0000115 nl Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron NOT_TRANSLATED +en Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry HP:0031042 IAO:0000115 nl Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry NOT_TRANSLATED +en Inflexible adherence to routines or rituals HP:0000732 rdfs:label nl Rigide vasthouden aan routines of rituelen CANDIDATE +en Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins HP:0032316 IAO:0000115 nl Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins NOT_TRANSLATED +en Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home HP:4000110 IAO:0000115 nl Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home NOT_TRANSLATED +en Information about current or past medications taken by an individual HP:4000112 IAO:0000115 nl Information about current or past medications taken by an individual NOT_TRANSLATED +en Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies HP:0032467 IAO:0000115 nl Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies NOT_TRANSLATED +en Information about the delivery and health status at birth typically elicited as a part of the past medical history HP:0033623 IAO:0000115 nl Information about the delivery and health status at birth typically elicited as a part of the past medical history NOT_TRANSLATED +en Infra-aortic superior vena cava HP:0011685 rdfs:label nl Infra-aorta vena cava superior CANDIDATE +en Infra-orbital crease HP:0100876 rdfs:label nl Infra-orbitale plooi CANDIDATE +en Infra-orbital fold HP:0011232 rdfs:label nl Infra-orbitale vouw CANDIDATE +en Infracardiac total anomalous pulmonary venous connection HP:0011721 rdfs:label nl Infracardiac total anomalous pulmonary venous connection NOT_TRANSLATED +en Infrequent menses (less than 6 per year or more than 35 days between cycles) HP:0000876 IAO:0000115 nl Infrequent menses (less than 6 per year or more than 35 days between cycles) NOT_TRANSLATED +en Infrequent or difficult evacuation of feces HP:0002019 IAO:0000115 nl Infrequent or difficult evacuation of feces NOT_TRANSLATED +en Ingrown nail HP:0012710 rdfs:label nl Ingegroeide nagel CANDIDATE +en Ingrowth of new blood vessels into the cornea HP:0011496 IAO:0000115 nl Ingrowth of new blood vessels into the cornea NOT_TRANSLATED +en Inguinal abscess HP:0033590 rdfs:label nl Inguinal abscess NOT_TRANSLATED +en Inguinal freckling HP:0030052 rdfs:label nl Sproeten in lies CANDIDATE +en Inguinal hernia HP:0000023 rdfs:label nl Hernia inguinalis CANDIDATE +en Inheritance modifier HP:0034335 rdfs:label nl Inheritance modifier NOT_TRANSLATED +en Inheritance of both homologues of a chromosome pair from the same parent HP:0032382 IAO:0000115 nl Inheritance of both homologues of a chromosome pair from the same parent NOT_TRANSLATED +en Inherited progressive cone degeneration HP:0008020 IAO:0000115 nl Inherited progressive cone degeneration NOT_TRANSLATED +en Iniencephaly HP:0034205 rdfs:label nl Iniencephaly NOT_TRANSLATED +en Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion HP:0034205 IAO:0000115 nl Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion NOT_TRANSLATED +en Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades HP:0000590 IAO:0000115 nl Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades NOT_TRANSLATED +en Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand HP:0012185 IAO:0000115 nl Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand NOT_TRANSLATED +en Inlet ventricular septal defect HP:0011622 rdfs:label nl Inlet ventrikelseptumdefect CANDIDATE +en Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip HP:0010803 IAO:0000115 nl Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip NOT_TRANSLATED +en Inner retinal layer loss on macular OCT HP:0030620 rdfs:label nl Inner retinal laag verlies op macula OCT CANDIDATE +en Insect allergy HP:0410335 rdfs:label nl Insect allergy NOT_TRANSLATED +en Insect bite allergy HP:0410339 rdfs:label nl Insect bite allergy NOT_TRANSLATED +en Insertion of the posterior columella below the nasal base HP:0010763 IAO:0000115 nl Insertion of the posterior columella below the nasal base NOT_TRANSLATED +en Insertion of the posterior columella superior to the nasal base HP:0012807 IAO:0000115 nl Insertion of the posterior columella superior to the nasal base NOT_TRANSLATED +en Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta HP:0030659 IAO:0000115 nl Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta NOT_TRANSLATED +en Insertion of the umbilical cord within 2 cm from the placental edge HP:0030658 IAO:0000115 nl Insertion of the umbilical cord within 2 cm from the placental edge NOT_TRANSLATED +en Insertion of thumb at a more distal location than normal HP:0009622 IAO:0000115 nl Insertion of thumb at a more distal location than normal NOT_TRANSLATED +en Insidious onset HP:0003587 rdfs:label nl Sluipende onset CANDIDATE +en Insistence on sameness HP:5200130 rdfs:label nl Aandringen op gelijkheid OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Insomnia HP:0100785 rdfs:label nl Slapeloosheid CANDIDATE +en Inspiration of a foreign object into the airway HP:0002835 IAO:0000115 nl Inspiration of a foreign object into the airway NOT_TRANSLATED +en Inspiratory crackles HP:0031996 rdfs:label nl Inspiratory crackles NOT_TRANSLATED +en Inspiratory stridor HP:0005348 rdfs:label nl Inspiratoire stridor CANDIDATE +en Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities HP:0005348 IAO:0000115 nl Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities NOT_TRANSLATED +en Instep location HP:0034439 rdfs:label nl Instep location NOT_TRANSLATED +en Insufficient amount of androgenic activity HP:0008226 IAO:0000115 nl Insufficient amount of androgenic activity NOT_TRANSLATED +en Insufficient growth hormone secretion following administration of growth hormone-releasing hormone HP:0033579 IAO:0000115 nl Insufficient growth hormone secretion following administration of growth hormone-releasing hormone NOT_TRANSLATED +en Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands HP:0000846 IAO:0000115 nl Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands NOT_TRANSLATED +en Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves HP:0008207 IAO:0000115 nl Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves NOT_TRANSLATED +en Insufficient response to short acting pulmonary vasodilator HP:0030894 rdfs:label nl Onvoldoende reactie op kort-werkende pulmonale vasodilatator CANDIDATE +en Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests HP:0000824 IAO:0000115 nl Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests NOT_TRANSLATED +en Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections HP:0008866 IAO:0000115 nl Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections NOT_TRANSLATED +en Insulin insensitivity HP:0008189 rdfs:label nl Insuline ongevoeligheid CANDIDATE +en Insulin receptor antibody positivity HP:0031104 rdfs:label nl Insuline receptor antistof positiviteit CANDIDATE +en Insulin resistance HP:0000855 rdfs:label nl Insulineresistentie CANDIDATE +en Insulin-dependent but ketosis-resistant diabetes HP:0008205 rdfs:label nl Insuline-afhankelijke maar ketose-resistente diabetes CANDIDATE +en Insulin-resistant diabetes mellitus HP:0000831 rdfs:label nl Insuline-resistente diabetes mellitus CANDIDATE +en Insulin-resistant diabetes mellitus at puberty HP:0000877 rdfs:label nl Insuline-resistente diabetes mellitus in de puberteit CANDIDATE +en Insulinoma HP:0012197 rdfs:label nl Insulinoom CANDIDATE +en Intellectual disability HP:0001249 rdfs:label nl Verstandelijke beperking CANDIDATE +en Intellectual disability, borderline HP:0006889 rdfs:label nl Verstandelijke beperking, borderline CANDIDATE +en Intellectual disability, mild HP:0001256 rdfs:label nl Verstandelijke beperking, mild CANDIDATE +en Intellectual disability, moderate HP:0002342 rdfs:label nl Verstandelijke beperking, matig CANDIDATE +en Intellectual disability, profound HP:0002187 rdfs:label nl Verstandelijke beperking, zeer ernstig CANDIDATE +en Intellectual disability, progressive HP:0006887 rdfs:label nl Verstandelijke beperking, progressief CANDIDATE +en Intellectual disability, severe HP:0010864 rdfs:label nl Verstandelijke beperking, ernstig CANDIDATE +en Intense anterior chamber flare (fibrin/plastic aqueous) HP:0031621 IAO:0000115 nl Intense anterior chamber flare (fibrin/plastic aqueous) NOT_TRANSLATED +en Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control HP:0000739 IAO:0000115 nl Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control NOT_TRANSLATED +en Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events HP:0032941 IAO:0000115 nl Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events NOT_TRANSLATED +en Intense psychological distress to cues HP:0032941 rdfs:label nl Intense psychological distress to cues NOT_TRANSLATED +en Intention tremor HP:0002080 rdfs:label nl Intentie tremor CANDIDATE +en Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon HP:0033275 IAO:0000115 nl Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon NOT_TRANSLATED +en Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae HP:0000460 IAO:0000115 nl Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae NOT_TRANSLATED +en Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae HP:0000445 IAO:0000115 nl Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae NOT_TRANSLATED +en Intercostal muscle weakness HP:0004878 rdfs:label nl Intercostale spierzwakte CANDIDATE +en Intercostal retractions HP:0030864 rdfs:label nl Intercostale retracties CANDIDATE +en Intercrural pterygium HP:0009757 rdfs:label nl Intercruraal pterygium CANDIDATE +en Interdigital loops HP:0100888 rdfs:label nl Interdigitale lussen CANDIDATE +en Interface hepatitis HP:0032220 rdfs:label nl Interface hepatitis NOT_TRANSLATED +en Interhemispheric cyst HP:0032327 rdfs:label nl Interhemispheric cyst NOT_TRANSLATED +en Interhypothalamic Adhesion HP:0033105 rdfs:label nl Interhypothalamic Adhesion NOT_TRANSLATED +en Interictal EEG abnormality HP:0025373 rdfs:label nl Interictale EEG afwijking CANDIDATE +en Interictal epileptiform activity HP:0011182 rdfs:label nl Epileptiforme EEG-ontladingen CANDIDATE +en Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge HP:0025373 IAO:0000115 nl Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge NOT_TRANSLATED +en Interlobular bile duct destruction HP:0025344 rdfs:label nl Interlobulaire galgang destructie CANDIDATE +en Interlobular intima/media venosclerosis HP:0033964 rdfs:label nl Interlobular intima/media venosclerosis NOT_TRANSLATED +en Interlobular septal thickening HP:0030879 rdfs:label nl Interlobulaire septum verdikking op pulmonale HRCT CANDIDATE +en Interlobular vein intima/media amyloidosis HP:0033966 rdfs:label nl Interlobular vein intima/media amyloidosis NOT_TRANSLATED +en Interlobular vein intima/media coagulative necrosis HP:0033971 rdfs:label nl Interlobular vein intima/media coagulative necrosis NOT_TRANSLATED +en Interlobular vein intima/media granulomatous venulitis HP:0033968 rdfs:label nl Interlobular vein intima/media granulomatous venulitis NOT_TRANSLATED +en Interlobular vein intima/media liquefactive necrosis HP:0033970 rdfs:label nl Interlobular vein intima/media liquefactive necrosis NOT_TRANSLATED +en Interlobular vein intima/media multilamellation HP:0033974 rdfs:label nl Interlobular vein intima/media multilamellation NOT_TRANSLATED +en Interlobular vein intima/media necrosis HP:0033969 rdfs:label nl Interlobular vein intima/media necrosis NOT_TRANSLATED +en Interlobular vein intima/media venulitis HP:0033967 rdfs:label nl Interlobular vein intima/media venulitis NOT_TRANSLATED +en Interlobular vein intimal mucoid edema HP:0033965 rdfs:label nl Interlobular vein intimal mucoid edema NOT_TRANSLATED +en Interlobular vein medial atrophy HP:0033972 rdfs:label nl Interlobular vein medial atrophy NOT_TRANSLATED +en Interlobular vein medial hypertrophy HP:0033973 rdfs:label nl Interlobular vein medial hypertrophy NOT_TRANSLATED +en Intermediate atrioventricular canal defect HP:0011576 rdfs:label nl Intermediair atrioventriculair kanaaldefect CANDIDATE +en Intermediate uveitis HP:0012124 rdfs:label nl Intermediaire uveïtis CANDIDATE +en Intermediate young adult onset HP:0025709 rdfs:label nl Intermediate young adult onset NOT_TRANSLATED +en Intermittent abdominal pain with diarrhea and/or constipation HP:0033628 IAO:0000115 nl Intermittent abdominal pain with diarrhea and/or constipation NOT_TRANSLATED +en Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation HP:0012431 IAO:0000115 nl Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation NOT_TRANSLATED +en Intermittent claudication HP:0004417 rdfs:label nl Claudicatio intermittens CANDIDATE +en Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still HP:0004417 IAO:0000115 nl Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still NOT_TRANSLATED +en Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions HP:0010828 IAO:0000115 nl Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions NOT_TRANSLATED +en Intermittent diarrhea HP:0002254 rdfs:label nl Intermitterende diarree CANDIDATE +en Intermittent episodes of abnormally increased perspiration HP:0001069 IAO:0000115 nl Intermittent episodes of abnormally increased perspiration NOT_TRANSLATED +en Intermittent episodes of increased resistance to the passage of air in the upper airway HP:0012271 IAO:0000115 nl Intermittent episodes of increased resistance to the passage of air in the upper airway NOT_TRANSLATED +en Intermittent episodes of ketoacidosis HP:0005974 IAO:0000115 nl Intermittent episodes of ketoacidosis NOT_TRANSLATED +en Intermittent episodes of paralysis of all four limbs HP:0200072 IAO:0000115 nl Intermittent episodes of paralysis of all four limbs NOT_TRANSLATED +en Intermittent episodes of respiratory insufficiency due to muscle weakness HP:0004889 rdfs:label nl Intermitterende episoden van respiratoire insufficiëntie als gevolg van spierzwakte CANDIDATE +en Intermittent generalized erythematous papular rash HP:0007432 rdfs:label nl Intermitterend gegeneraliseerd erythemateus papuleus exantheem CANDIDATE +en Intermittent hyperpnea at rest HP:0005941 rdfs:label nl Intermitterende hyperpnoe in rust CANDIDATE +en Intermittent hyperventilation HP:0004879 rdfs:label nl Intermitterende hyperventilatie CANDIDATE +en Intermittent hypothermia HP:0005964 rdfs:label nl Intermitterende hypothermie CANDIDATE +en Intermittent jaundice HP:0001046 rdfs:label nl Intermitterende geelzucht CANDIDATE +en Intermittent lactic acidemia HP:0004913 rdfs:label nl Intermitterende lactaat acidemie CANDIDATE +en Intermittent microsaccadic pursuits HP:0007944 rdfs:label nl Intermitterende microsaccadische volgbewegingen CANDIDATE +en Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals HP:0032148 IAO:0000115 nl Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals NOT_TRANSLATED +en Intermittent painful muscle spasms HP:0011964 rdfs:label nl Intermitterende pijnlijke spier spasmen CANDIDATE +en Intermittent thrombocytopenia HP:0004854 rdfs:label nl Intermitterende trombocytopenie CANDIDATE +en Intermittently increased size of the liver HP:0006564 IAO:0000115 nl Intermittently increased size of the liver NOT_TRANSLATED +en Intermittently increased size of the spleen HP:0006268 IAO:0000115 nl Intermittently increased size of the spleen NOT_TRANSLATED +en Internal carotid artery calcification HP:0031307 rdfs:label nl Arteria carotis interna calcificatie CANDIDATE +en Internal carotid artery dissection HP:0012159 rdfs:label nl Arteria carotis interna dissectie CANDIDATE +en Internal carotid artery hypoplasia HP:0005290 rdfs:label nl Arteria carotis interna hypoplasie CANDIDATE +en Internal hemorrhage HP:0011029 rdfs:label nl Interne bloeding CANDIDATE +en Internal notch of the femoral head HP:0031027 rdfs:label nl Internal notch of the femoral head NOT_TRANSLATED +en Internal ophthalmoplegia HP:0007942 rdfs:label nl Interne oftalmoplegie CANDIDATE +en Internal tibial torsion HP:0034372 rdfs:label nl Internal tibial torsion NOT_TRANSLATED +en Internally nucleated skeletal muscle fibers HP:0031237 rdfs:label nl Internally nucleated skeletal muscle fibers NOT_TRANSLATED +en Internally rotated shoulders HP:0006659 rdfs:label nl Intern gedraaide schouders CANDIDATE +en Internuclear ophthalmoplegia HP:0030773 rdfs:label nl Internucleaire oftalmoplegie CANDIDATE +en Interosseus muscle atrophy HP:0007181 rdfs:label nl Interossalepieratrofie CANDIDATE +en Interphalangeal joint contracture of finger HP:0001220 rdfs:label nl Interfalangeale gewrichtscontractuur van vinger CANDIDATE +en Interphalangeal joint erosions HP:0006252 rdfs:label nl Interfalangeale gewrichtserosies CANDIDATE +en Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity HP:0005198 IAO:0000115 nl Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity NOT_TRANSLATED +en Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes) HP:0000601 IAO:0000115 nl Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes) NOT_TRANSLATED +en Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes) HP:0000316 IAO:0000115 nl Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes) NOT_TRANSLATED +en Interrupted aortic arch HP:0011611 rdfs:label nl Onderbroken aortaboog CANDIDATE +en Interrupted aortic arch type A HP:0011612 rdfs:label nl Onderbroken aortaboog type A CANDIDATE +en Interrupted aortic arch type B HP:0011613 rdfs:label nl Onderbroken aortaboog typeB CANDIDATE +en Interrupted aortic arch type C HP:0011614 rdfs:label nl Onderbroken aortaboog type C CANDIDATE +en Interrupted inferior vena cava with azygous continuation HP:0011671 rdfs:label nl Interrupted inferior vena cava with azygous continuation NOT_TRANSLATED +en Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava HP:0011671 IAO:0000115 nl Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava NOT_TRANSLATED +en Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid HP:0011264 IAO:0000115 nl Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid NOT_TRANSLATED +en Interruption of the innervation of the diaphragm HP:0009109 IAO:0000115 nl Interruption of the innervation of the diaphragm NOT_TRANSLATED +en Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow HP:0033606 IAO:0000115 nl Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow NOT_TRANSLATED +en Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present HP:0032641 IAO:0000115 nl Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present NOT_TRANSLATED +en Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis HP:0032643 IAO:0000115 nl Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis NOT_TRANSLATED +en Interstitial cardiac fibrosis HP:0031329 rdfs:label nl Interstitiële cardiale fibrose CANDIDATE +en Interstitial emphysema HP:0032965 rdfs:label nl Interstitial emphysema NOT_TRANSLATED +en Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts HP:0032965 IAO:0000115 nl Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts NOT_TRANSLATED +en Interstitial pneumonitis HP:0006515 rdfs:label nl Interstitiële pneumonitis CANDIDATE +en Intertriginous distribution HP:0034432 rdfs:label nl Intertriginous distribution NOT_TRANSLATED +en Intervertebral disc degeneration HP:0008419 rdfs:label nl Degeneratie van de tussenwervelschijf CANDIDATE +en Intervertebral disk calcification HP:0005645 rdfs:label nl Tussenwervelschijf calcificatie CANDIDATE +en Intervertebral space narrowing HP:0002945 rdfs:label nl Versmalling van intervertebrale ruimte CANDIDATE +en Intestinal atresia HP:0011100 rdfs:label nl Intestinale atresie CANDIDATE +en Intestinal bleeding HP:0002584 rdfs:label nl Intestinale bloeding CANDIDATE +en Intestinal carcinoid HP:0006723 rdfs:label nl Intestinaal carcinoïd CANDIDATE +en Intestinal duplication HP:0100668 rdfs:label nl Intestinale duplicatie CANDIDATE +en Intestinal edema HP:0005225 rdfs:label nl Intestinaal oedeem CANDIDATE +en Intestinal fistula HP:0100819 rdfs:label nl Intestinale fistel CANDIDATE +en Intestinal hemangioma HP:0410267 rdfs:label nl Intestinal hemangioma NOT_TRANSLATED +en Intestinal hypoplasia HP:0005245 rdfs:label nl Intestinale hypoplasie CANDIDATE +en Intestinal inflammation HP:4000055 rdfs:label nl Intestinal inflammation NOT_TRANSLATED +en Intestinal ischemia HP:0033404 rdfs:label nl Intestinal ischemia NOT_TRANSLATED +en Intestinal lymphangiectasia HP:0002593 rdfs:label nl Intestinale lymfangiëctasieën CANDIDATE +en Intestinal lymphedema HP:0004788 rdfs:label nl Intestinaal lymfoedeem CANDIDATE +en Intestinal lymphoid nodular hyperplasia HP:0011956 rdfs:label nl Intestinale lymfoïde nodulaire hyperplasie CANDIDATE +en Intestinal malrotation HP:0002566 rdfs:label nl Intestinale malrotatie CANDIDATE +en Intestinal obstruction HP:0005214 rdfs:label nl Intestinale obstructie CANDIDATE +en Intestinal perforation HP:0031368 rdfs:label nl Intestinale perforatie CANDIDATE +en Intestinal polyp HP:0005266 rdfs:label nl Intestinale poliep CANDIDATE +en Intestinal polyposis HP:0200008 rdfs:label nl Intestinale polyposis CANDIDATE +en Intestinal pseudo-obstruction HP:0004389 rdfs:label nl Intestinale pseudo-obstructie CANDIDATE +en Intimal thickening in the coronary arteries HP:0005292 rdfs:label nl Verdikking van intima in coronair arteriën CANDIDATE +en Intolerance to protein HP:0001984 rdfs:label nl Intolerantie voor eiwit CANDIDATE +en Intra-epidermal blistering HP:0033802 rdfs:label nl Intra-epidermal blistering NOT_TRANSLATED +en Intra-oral hyperpigmentation HP:0010284 rdfs:label nl Intra-orale hyperpigmentatie CANDIDATE +en Intraalveolar nodular calcifications HP:0006514 rdfs:label nl Intra-alveolaire nodulaire calcificaties CANDIDATE +en Intraalveolar phospholipid accumulation HP:0006517 rdfs:label nl Alveolaire proteïnose CANDIDATE +en Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material HP:0006916 rdfs:label nl Intra-axonale accumulatie van kromlijnig autofluorescent lipopigment opslag materiaal CANDIDATE +en Intracapillary amorphous, eosinophilic material consisting of immune deposits HP:0033293 IAO:0000115 nl Intracapillary amorphous, eosinophilic material consisting of immune deposits NOT_TRANSLATED +en Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections HP:0033294 IAO:0000115 nl Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections NOT_TRANSLATED +en Intracellular accumulation of Dol-PP-GlcNAc2Man5 HP:0032576 rdfs:label nl Intracellular accumulation of Dol-PP-GlcNAc2Man5 NOT_TRANSLATED +en Intracellular accumulation of autofluorescent lipopigment storage material HP:0003204 rdfs:label nl Intracellulaire accumulatie van autofluorescent lipopigment opslag materiaal CANDIDATE +en Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol HP:0032576 IAO:0000115 nl Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol NOT_TRANSLATED +en Intracellular aggregates of actin and actin-associated proteins within nerve cells HP:0100316 IAO:0000115 nl Intracellular aggregates of actin and actin-associated proteins within nerve cells NOT_TRANSLATED +en Intracerebral periventricular calcifications HP:0007229 rdfs:label nl Intracerebrale periventriculaire calcificaties CANDIDATE +en Intracranial arterial calcification HP:0031306 rdfs:label nl Intracraniële arteriële calcificatie CANDIDATE +en Intracranial cystic lesion HP:0010576 rdfs:label nl Intracraniële cysteuze lesie CANDIDATE +en Intracranial dermoid cyst HP:0012097 rdfs:label nl Intracraniële dermoidcyste CANDIDATE +en Intracranial epidermoid cyst HP:0012096 rdfs:label nl Intracraniële epidermoid cyste CANDIDATE +en Intracranial hemorrhage HP:0002170 rdfs:label nl Intracraniële bloeding CANDIDATE +en Intracranial internal carotid artery dissection HP:0012160 rdfs:label nl Intracraniale arteria carotis interna dissectie CANDIDATE +en Intracranial meningioma HP:0100009 rdfs:label nl Intracranieel meningeoom CANDIDATE +en Intracranial neurenteric cyst HP:0030727 rdfs:label nl Intracraniële neurenterische cyste CANDIDATE +en Intractable diarrhea HP:0002041 rdfs:label nl Onhandelbare diarree CANDIDATE +en Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain HP:0034320 IAO:0000115 nl Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain NOT_TRANSLATED +en Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi HP:0033073 IAO:0000115 nl Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi NOT_TRANSLATED +en Intrahepatic bile duct cysts HP:0005209 rdfs:label nl Intrahepatische galgang cysten CANDIDATE +en Intrahepatic bile duct dilatation HP:0033149 rdfs:label nl Intrahepatic bile duct dilatation NOT_TRANSLATED +en Intrahepatic biliary atresia HP:0005248 rdfs:label nl Intrahepatische biliaire atresie CANDIDATE +en Intrahepatic biliary dysgenesis HP:0001401 rdfs:label nl Intrahepatische biliaire dysgenesie CANDIDATE +en Intrahepatic cholestasis HP:0001406 rdfs:label nl Intrahepatische cholestase CANDIDATE +en Intrahepatic cholestasis with episodic jaundice HP:0006575 rdfs:label nl Intrahepatische cholestase met episodische icterus CANDIDATE +en Intrahepatic portal vein sclerosis HP:0031015 rdfs:label nl Intrahepatische vena porta sclerose CANDIDATE +en Intralamellar aortic medial fibrosis HP:0032090 rdfs:label nl Intralamellar aortic medial fibrosis NOT_TRANSLATED +en Intralamellar mucoid extracellular matrix accumulation HP:0032081 rdfs:label nl Intralamellar mucoid extracellular matrix accumulation NOT_TRANSLATED +en Intralobar nephroblastomatosis HP:0011795 rdfs:label nl Intralobaire nefroblastomatose CANDIDATE +en Intralobar nephrogenic rest HP:0012783 rdfs:label nl Intralobaire nefrogene rest CANDIDATE +en Intralobar sequestration HP:0010961 rdfs:label nl Intralobaire sequestratie CANDIDATE +en Intralobular interstitial thickening HP:0025176 rdfs:label nl Intralobulaire interstitiële verdikking CANDIDATE +en Intralobular septal thickening HP:0033638 rdfs:label nl Intralobular septal thickening NOT_TRANSLATED +en Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern HP:0033638 IAO:0000115 nl Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern NOT_TRANSLATED +en Intraluminal thrombi within interlobular veins HP:0033857 rdfs:label nl Intraluminal thrombi within interlobular veins NOT_TRANSLATED +en Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images HP:0031361 IAO:0000115 nl Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images NOT_TRANSLATED +en Intramuscular Myxoma HP:0031461 rdfs:label nl Intramusculair myxoom CANDIDATE +en Intramuscular hematoma HP:0012233 rdfs:label nl Intramusculair hematoom CANDIDATE +en Intranuclear cardiomyocyte mitochondria HP:0031336 rdfs:label nl Intranuclear cardiomyocyte mitochondria NOT_TRANSLATED +en Intraocular pressure that is 2 standard deviations above the population mean HP:0007906 IAO:0000115 nl Intraocular pressure that is 2 standard deviations above the population mean NOT_TRANSLATED +en Intraoral laceration HP:0034417 rdfs:label nl Intraoral laceration NOT_TRANSLATED +en Intrapartum fever HP:0030245 rdfs:label nl Intrapartum koorts CANDIDATE +en Intrapelvic bulging of the medial acetabular wall HP:0003179 IAO:0000115 nl Intrapelvic bulging of the medial acetabular wall NOT_TRANSLATED +en Intrapulmonary sequestration HP:0011278 rdfs:label nl Intrapulmonale sequestratie CANDIDATE +en Intrapulmonary shunt HP:0031225 rdfs:label nl Intrapulmonale shunt CANDIDATE +en Intrarenal abscess HP:0032620 rdfs:label nl Intrarenal abscess NOT_TRANSLATED +en Intrarenal reflux HP:0033742 rdfs:label nl Intrarenal reflux NOT_TRANSLATED +en Intraretinal exudate HP:0007989 rdfs:label nl Intraretinaal exsudaat CANDIDATE +en Intraretinal fluid HP:0031527 rdfs:label nl Intraretinaal vocht CANDIDATE +en Intraretinal hemorrhage HP:0031805 rdfs:label nl Intraretinal hemorrhage NOT_TRANSLATED +en Intraretinal hyporeflective spaces on macular OCT HP:0030623 rdfs:label nl Intraretinale hyporeflectieve ruimtes op macula OCT CANDIDATE +en Intrascapular pain HP:0033746 rdfs:label nl Intrascapular pain NOT_TRANSLATED +en Intratesticular abscess HP:0025038 rdfs:label nl Intratesticulair abces CANDIDATE +en Intrathoracic hemangioma HP:0410287 rdfs:label nl Intrathoracic hemangioma NOT_TRANSLATED +en Intratubular bilirubin casts HP:0032624 rdfs:label nl Intratubular bilirubin casts NOT_TRANSLATED +en Intratubular calcium oxalate casts HP:0032959 rdfs:label nl Intratubular calcium oxalate casts NOT_TRANSLATED +en Intratubular calcium phosphate casts HP:0032960 rdfs:label nl Intratubular calcium phosphate casts NOT_TRANSLATED +en Intratubular casts composed of vancomycin aggregates and uromodulin HP:0032626 IAO:0000115 nl Intratubular casts composed of vancomycin aggregates and uromodulin NOT_TRANSLATED +en Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver HP:0032629 IAO:0000115 nl Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver NOT_TRANSLATED +en Intratubular dihydroxyadenuria crystals HP:0032629 rdfs:label nl Intratubular dihydroxyadenuria crystals NOT_TRANSLATED +en Intratubular erythrocyte cast HP:0032625 rdfs:label nl Intratubular erythrocyte cast NOT_TRANSLATED +en Intratubular hemoglobin casts HP:0032631 rdfs:label nl Intratubular hemoglobin casts NOT_TRANSLATED +en Intratubular hyaline casts HP:0032633 rdfs:label nl Intratubular hyaline casts NOT_TRANSLATED +en Intratubular leukocyte casts HP:0032627 rdfs:label nl Intratubular leukocyte casts NOT_TRANSLATED +en Intratubular light-chain casts HP:0032630 rdfs:label nl Intratubular light-chain casts NOT_TRANSLATED +en Intratubular myoglobin cast HP:0032634 rdfs:label nl Intratubular myoglobin cast NOT_TRANSLATED +en Intratubular vancomycin casts HP:0032626 rdfs:label nl Intratubular vancomycin casts NOT_TRANSLATED +en Intrauterine fetal demise of one twin after midgestation HP:0030753 rdfs:label nl Intrauterine fetal demise of one twin after midgestation NOT_TRANSLATED +en Intrauterine growth retardation HP:0001511 rdfs:label nl Uteriene groeiretardatie CANDIDATE +en Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age HP:0008846 IAO:0000115 nl Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age NOT_TRANSLATED +en Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age HP:0008883 IAO:0000115 nl Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age NOT_TRANSLATED +en Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age HP:0011408 IAO:0000115 nl Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age NOT_TRANSLATED +en Intraventricular arachnoid cyst HP:0012488 rdfs:label nl Intraventriculaire arachnoïdale cyste CANDIDATE +en Intraventricular hemorrhage HP:0030746 rdfs:label nl Intraventriculaire bloeding CANDIDATE +en Intraventricular hemorrhage that occurs in a premature infant HP:0030747 IAO:0000115 nl Intraventricular hemorrhage that occurs in a premature infant NOT_TRANSLATED +en Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles HP:0030750 IAO:0000115 nl Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles NOT_TRANSLATED +en Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle HP:0030749 IAO:0000115 nl Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle NOT_TRANSLATED +en Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove HP:0030748 IAO:0000115 nl Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove NOT_TRANSLATED +en Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension HP:0030751 IAO:0000115 nl Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension NOT_TRANSLATED +en Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III HP:0030392 IAO:0000115 nl Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III NOT_TRANSLATED +en Intrinsic hand muscle atrophy HP:0008954 rdfs:label nl Intrinsieke handspier atrofie CANDIDATE +en Intrusion symptom HP:0032936 rdfs:label nl Intrusion symptom NOT_TRANSLATED +en Intussusception HP:0002576 rdfs:label nl Intussusceptie CANDIDATE +en Invagination of the superior part of the auricle under a fold of temporal skin HP:0011252 IAO:0000115 nl Invagination of the superior part of the auricle under a fold of temporal skin NOT_TRANSLATED +en Invasive dermatophyte infection HP:0032516 rdfs:label nl Invasive dermatophyte infection NOT_TRANSLATED +en Invasive fungal infection HP:0020101 rdfs:label nl Invasive fungal infection NOT_TRANSLATED +en Invasive parasitic infection HP:0031700 rdfs:label nl Invasieve parasitaire infectie CANDIDATE +en Invasive pulmonary aspergillosis HP:0020103 rdfs:label nl Invasive pulmonary aspergillosis NOT_TRANSLATED +en Inversion and rubbing of the eyelashes against the globe of the eye HP:0001128 IAO:0000115 nl Inversion and rubbing of the eyelashes against the globe of the eye NOT_TRANSLATED +en Inverted nipples HP:0003186 rdfs:label nl Omgekeerde tepels CANDIDATE +en Involuntary and irregular twitches of the chin HP:0012462 IAO:0000115 nl Involuntary and irregular twitches of the chin NOT_TRANSLATED +en Involuntary contraction or twitching of the muscles HP:0025144 IAO:0000115 nl Involuntary contraction or twitching of the muscles NOT_TRANSLATED +en Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face HP:0004305 IAO:0000115 nl Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face NOT_TRANSLATED +en Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful HP:0025271 IAO:0000115 nl Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful NOT_TRANSLATED +en Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head HP:0000473 IAO:0000115 nl Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head NOT_TRANSLATED +en Involuntary fecal soiling in adults and children who have usually already been toilet trained HP:0002607 IAO:0000115 nl Involuntary fecal soiling in adults and children who have usually already been toilet trained NOT_TRANSLATED +en Involuntary flexion or extension of the arms and legs HP:0002533 IAO:0000115 nl Involuntary flexion or extension of the arms and legs NOT_TRANSLATED +en Involuntary movements HP:0004305 rdfs:label nl Onwillekeurige bewegingen CANDIDATE +en Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements) HP:0001266 IAO:0000115 nl Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements) NOT_TRANSLATED +en Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand HP:0001335 IAO:0000115 nl Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand NOT_TRANSLATED +en Involuntary protrusions, movements, spams and contortions of the tongue HP:0031008 IAO:0000115 nl Involuntary protrusions, movements, spams and contortions of the tongue NOT_TRANSLATED +en Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound HP:0100035 IAO:0000115 nl Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound NOT_TRANSLATED +en Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area HP:0032545 IAO:0000115 nl Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area NOT_TRANSLATED +en Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing HP:0010992 IAO:0000115 nl Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing NOT_TRANSLATED +en Involuntary, fine, continuous, undulating contractions of the eyelid HP:0031166 IAO:0000115 nl Involuntary, fine, continuous, undulating contractions of the eyelid NOT_TRANSLATED +en Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting HP:0032521 IAO:0000115 nl Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting NOT_TRANSLATED +en Involutional entropion HP:0031736 rdfs:label nl Involutionele entropion CANDIDATE +en Inward advance of skin over the nail plate HP:0002165 IAO:0000115 nl Inward advance of skin over the nail plate NOT_TRANSLATED +en Iodine contrast allergy HP:0012394 rdfs:label nl Allergie voor jodiumhoudende contrastmiddelen CANDIDATE +en Ipsilateral lack of facial sweating HP:0007451 rdfs:label nl Ipsilateraal gebrek van faciaal zweten CANDIDATE +en Iridescent posterior subcapsular cataract HP:0007889 rdfs:label nl Iriserend posterieur subcapsulair staar CANDIDATE +en Iridocyclitis HP:0001094 rdfs:label nl Iridocyclitis CANDIDATE +en Iridodonesis HP:0100693 rdfs:label nl Iridodonesis CANDIDATE +en Iris atrophy HP:0001089 rdfs:label nl Atrofie van de Iris CANDIDATE +en Iris coloboma HP:0000612 rdfs:label nl Iris coloboom CANDIDATE +en Iris cyst HP:0011523 rdfs:label nl Iris cyste CANDIDATE +en Iris flocculi HP:0500007 rdfs:label nl Iris flocculi CANDIDATE +en Iris hypoperfusion HP:0012635 rdfs:label nl Iris hypoperfusie CANDIDATE +en Iris hypopigmentation HP:0007730 rdfs:label nl Iris hypopigmentatie CANDIDATE +en Iris melanoma HP:0011524 rdfs:label nl Iris melanoom CANDIDATE +en Iris neovascularization HP:0011497 rdfs:label nl Iris neovascularisatie CANDIDATE +en Iris nevus HP:0011525 rdfs:label nl Iris naevus CANDIDATE +en Iris pigment dispersion HP:0012634 rdfs:label nl Iris pigment dispersie CANDIDATE +en Iris transillumination defect HP:0012805 rdfs:label nl Iris transilluminatie defect CANDIDATE +en Iritis HP:0001101 rdfs:label nl Iritis CANDIDATE +en Iron accumulation in brain HP:0012675 rdfs:label nl Ijzer accumulatie in brein CANDIDATE +en Iron accumulation in substantia nigra HP:0012678 rdfs:label nl Ijzer accumulatie in substantia nigra CANDIDATE +en Iron deficiency anemia HP:0001891 rdfs:label nl Ijzergebreksanemie CANDIDATE +en Irregular acetabular roof HP:0008833 rdfs:label nl Irregulair acetabulair dak CANDIDATE +en Irregular and nodular thickening of interlobular septa reminiscent of a row of beads HP:0033654 IAO:0000115 nl Irregular and nodular thickening of interlobular septa reminiscent of a row of beads NOT_TRANSLATED +en Irregular articular surfaces of the elbow joints HP:0003945 rdfs:label nl Irregulaire gewrichtsoppervlakken van de gewrichten van de elleboog CANDIDATE +en Irregular astigmatism HP:0031792 rdfs:label nl Irregular astigmatism NOT_TRANSLATED +en Irregular capital femoral epiphysis HP:0005041 rdfs:label nl Irregulaire epifyse van de femurkop CANDIDATE +en Irregular carpal bones HP:0004236 rdfs:label nl Irregulaire carpale botten CANDIDATE +en Irregular central macular autofluorescence HP:0030630 rdfs:label nl Irregulaire centrale macula autofluorescentie CANDIDATE +en Irregular chondrocostal junctions HP:0006606 rdfs:label nl Irregulaire chondrocostale overgangen CANDIDATE +en Irregular dentition HP:0040079 rdfs:label nl Irregulair dentitie CANDIDATE +en Irregular distal femoral epiphysis HP:0006407 rdfs:label nl Irregulaire distale epifyse van femur CANDIDATE +en Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth HP:0006316 IAO:0000115 nl Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth NOT_TRANSLATED +en Irregular epiphyses HP:0010582 rdfs:label nl Irregulaire epifysen CANDIDATE +en Irregular epiphyses of the 2nd finger HP:0009493 rdfs:label nl Irregulaire epifysen van de 2e vinger CANDIDATE +en Irregular epiphyses of the 2nd toe HP:0100049 rdfs:label nl Onregelmatige epifysen van de 2e teen CANDIDATE +en Irregular epiphyses of the 3rd finger HP:0009415 rdfs:label nl Irregulaire epifysen van de 3e vinger CANDIDATE +en Irregular epiphyses of the 3rd toe HP:0100060 rdfs:label nl Onregelmatige epifysen van de 3e teen CANDIDATE +en Irregular epiphyses of the 4th finger HP:0009398 rdfs:label nl Irregulaire epifysen van de 4e vinger CANDIDATE +en Irregular epiphyses of the 4th toe HP:0100071 rdfs:label nl Onregelmatige epifysen van de 4e teen CANDIDATE +en Irregular epiphyses of the 5th finger HP:0009387 rdfs:label nl Irregulaire epifysen van de 5e vinger CANDIDATE +en Irregular epiphyses of the 5th toe HP:0100082 rdfs:label nl Onregelmatige epifysen van de 5e teen CANDIDATE +en Irregular epiphyses of the distal phalanges of the hand HP:0010251 rdfs:label nl Irregulaire epifysen van distale falangen van hand CANDIDATE +en Irregular epiphyses of the elbow HP:0003948 rdfs:label nl Irregulaire epifysen van de elleboog CANDIDATE +en Irregular epiphyses of the hallux HP:0010118 rdfs:label nl Irregulaire epifysen van de hallux CANDIDATE +en Irregular epiphyses of the metacarpals HP:0009190 rdfs:label nl Irregulaire epifysen van de metacarpalen CANDIDATE +en Irregular epiphyses of the middle phalanges of the hand HP:0010262 rdfs:label nl Irregulaire epifysen van middelste falangen van hand CANDIDATE +en Irregular epiphyses of the phalanges of the hand HP:0010233 rdfs:label nl Irregulaire epifysen van falangen van hand CANDIDATE +en Irregular epiphyses of the proximal phalanges of the hand HP:0010273 rdfs:label nl Irregulaire epifysen van proximale falangen van hand CANDIDATE +en Irregular epiphyses of the toes HP:0010167 rdfs:label nl Onregelmatige epifyses van de tenen CANDIDATE +en Irregular epiphyses of the upper limbs HP:0003842 rdfs:label nl Irregulaire epifysen van bovenste ledematen CANDIDATE +en Irregular epiphysis of the 1st metacarpal HP:0010020 rdfs:label nl Irregulaire epifyse van de 1e metacarpaal CANDIDATE +en Irregular epiphysis of the 1st metatarsal HP:0010154 rdfs:label nl Irregulaire epifyse van de 1e metatarsaal CANDIDATE +en Irregular epiphysis of the distal phalanx of the 2nd finger HP:0009507 rdfs:label nl Irregulaire epifyse van de distale falanx van de 2e vinger CANDIDATE +en Irregular epiphysis of the distal phalanx of the 2nd toe HP:0100105 rdfs:label nl Onregelmatige epifyse van de distale falanx van de 2e teen CANDIDATE +en Irregular epiphysis of the distal phalanx of the 3rd finger HP:0009340 rdfs:label nl Irregulaire epifyse van de distale falanx van de 3e vinger CANDIDATE +en Irregular epiphysis of the distal phalanx of the 3rd toe HP:0100140 rdfs:label nl Onregelmatige epifyse van de distale falanx van de 3e teen CANDIDATE +en Irregular epiphysis of the distal phalanx of the 4th finger HP:0009255 rdfs:label nl Irregulaire epifyse van de distale falanx van de 4e vinger CANDIDATE +en Irregular epiphysis of the distal phalanx of the 4th toe HP:0100174 rdfs:label nl Onregelmatige epifyse van de distale falanx van de 4e teen CANDIDATE +en Irregular epiphysis of the distal phalanx of the 5th finger HP:0009167 rdfs:label nl Irregulaire epifyse van de distale falanx van de 5e vinger CANDIDATE +en Irregular epiphysis of the distal phalanx of the 5th toe HP:0100207 rdfs:label nl Onregelmatige epifyse van de distale falanx van de 5e teen CANDIDATE +en Irregular epiphysis of the distal phalanx of the hallux HP:0010143 rdfs:label nl Onregelmatige epifyse van de distale falanx van de hallux CANDIDATE +en Irregular epiphysis of the distal phalanx of the thumb HP:0009680 rdfs:label nl Onregelmatige epifyse van de distale falanx van de duim CANDIDATE +en Irregular epiphysis of the middle phalanx of the 2nd finger HP:0009518 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Irregular epiphysis of the middle phalanx of the 2nd toe HP:0100116 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 2e teen CANDIDATE +en Irregular epiphysis of the middle phalanx of the 3rd finger HP:0009326 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Irregular epiphysis of the middle phalanx of the 3rd toe HP:0100151 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 3e teen CANDIDATE +en Irregular epiphysis of the middle phalanx of the 4th finger HP:0009219 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Irregular epiphysis of the middle phalanx of the 4th toe HP:0100185 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 4e teen CANDIDATE +en Irregular epiphysis of the middle phalanx of the 5th finger HP:0009208 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Irregular epiphysis of the middle phalanx of the 5th toe HP:0100218 rdfs:label nl Onregelmatige epifyse van de middelste falanx van de 5e teen CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 2nd finger HP:0009529 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 2nd toe HP:0100127 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 2e teen CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 3rd finger HP:0009351 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 3rd toe HP:0100162 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 3e teen CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 4th finger HP:0009266 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 4th toe HP:0100196 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 4e teen CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 5th finger HP:0009199 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Irregular epiphysis of the proximal phalanx of the 5th toe HP:0100229 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de 5e teen CANDIDATE +en Irregular epiphysis of the proximal phalanx of the hallux HP:0010132 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de hallux CANDIDATE +en Irregular epiphysis of the proximal phalanx of the thumb HP:0009669 rdfs:label nl Onregelmatige epifyse van de proximale falanx van de duim CANDIDATE +en Irregular femoral epiphysis HP:0006361 rdfs:label nl Irregulaire femorale epifyse CANDIDATE +en Irregular folding of the glomerular basement membrane with an intact lamina densa HP:0033289 IAO:0000115 nl Irregular folding of the glomerular basement membrane with an intact lamina densa NOT_TRANSLATED +en Irregular humeral epiphyses HP:0003896 rdfs:label nl Irregulaire epifysen van de humerus CANDIDATE +en Irregular hyperpigmentation HP:0007400 rdfs:label nl Irregulaire hyperpigmentatie CANDIDATE +en Irregular hyperpigmentation of back HP:0007521 rdfs:label nl Irregulaire hyperpigmentatie van rug CANDIDATE +en Irregular iliac crest HP:0003796 rdfs:label nl Onregelmatige crista iliaca CANDIDATE +en Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic HP:0001102 IAO:0000115 nl Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic NOT_TRANSLATED +en Irregular menstruation HP:0000858 rdfs:label nl Menstruele onregelmatigheden CANDIDATE +en Irregular metacarpals HP:0006160 rdfs:label nl Irregulaire metacarpalen CANDIDATE +en Irregular morphology of one or more metacarpal bones HP:0006160 IAO:0000115 nl Irregular morphology of one or more metacarpal bones NOT_TRANSLATED +en Irregular myelin loops HP:0007208 rdfs:label nl Irregulaire myeline lussen CANDIDATE +en Irregular olecranon HP:0004034 rdfs:label nl Irregulair olecranon CANDIDATE +en Irregular or changing caliber (diameter) along the tail of the sperm HP:0033393 IAO:0000115 nl Irregular or changing caliber (diameter) along the tail of the sperm NOT_TRANSLATED +en Irregular ossification at anterior rib ends HP:0006598 rdfs:label nl Irregulaire ossificatie aan anterieure uiteinden van rib CANDIDATE +en Irregular ossification of hand bones HP:0004280 rdfs:label nl Irregulaire ossificatie van hand botten CANDIDATE +en Irregular ossification of humeral metaphyses HP:0003914 rdfs:label nl Irregulaire ossificatie van metaphysen van de humerus CANDIDATE +en Irregular ossification of the humeral epiphyses HP:0003897 rdfs:label nl Onregelmatige ossificatie van de epifysen van de humerus CANDIDATE +en Irregular ossification of the radial metaphysis HP:0004020 rdfs:label nl Irregulaire ossificatie van de metafyse van de radius CANDIDATE +en Irregular patellae HP:0006369 rdfs:label nl Irregulaire patellae CANDIDATE +en Irregular phalanges HP:0006205 rdfs:label nl Irregulaire falangen CANDIDATE +en Irregular proximal tibial epiphyses HP:0006456 rdfs:label nl Irregulaire proximale tibia epifysen CANDIDATE +en Irregular radial epiphyses HP:0004004 rdfs:label nl Irregulaire epifysen van de radius CANDIDATE +en Irregular radiographic opacity of the epiphyses of the 2nd finger HP:0009493 IAO:0000115 nl Irregular radiographic opacity of the epiphyses of the 2nd finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphyses of the 3rd finger HP:0009415 IAO:0000115 nl Irregular radiographic opacity of the epiphyses of the 3rd finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphyses of the 4th finger HP:0009398 IAO:0000115 nl Irregular radiographic opacity of the epiphyses of the 4th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphyses of the 5th finger HP:0009387 IAO:0000115 nl Irregular radiographic opacity of the epiphyses of the 5th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphyses of the metacarpals HP:0009190 IAO:0000115 nl Irregular radiographic opacity of the epiphyses of the metacarpals NOT_TRANSLATED +en Irregular radiographic opacity of the epiphyses of the phalanges of the fingers HP:0010233 IAO:0000115 nl Irregular radiographic opacity of the epiphyses of the phalanges of the fingers NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger HP:0009507 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger HP:0009340 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger HP:0009255 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger HP:0009167 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger HP:0009326 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger HP:0009219 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger HP:0009208 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger HP:0009351 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger HP:0009266 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger HP:0009199 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED +en Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009669 IAO:0000115 nl Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en Irregular respiration HP:0012195 rdfs:label nl Irregulaire ademhaling CANDIDATE +en Irregular sclerosis of hand bones HP:0004281 rdfs:label nl Irregulaire sclerose van hand botten CANDIDATE +en Irregular sclerotic endplates HP:0008476 rdfs:label nl Irregulaire sclerotische eindplaten CANDIDATE +en Irregular septal thickening on pulmonary HRCT HP:0025174 rdfs:label nl Irregulaire septum verdikking op pulmonale HRCT CANDIDATE +en Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum HP:0006606 IAO:0000115 nl Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum NOT_TRANSLATED +en Irregular surface of the normally relatively smooth capital femoral epiphysis HP:0005041 IAO:0000115 nl Irregular surface of the normally relatively smooth capital femoral epiphysis NOT_TRANSLATED +en Irregular tarsal bones HP:0004688 rdfs:label nl Irregulaire tarsale botten CANDIDATE +en Irregular tarsal ossification HP:0008134 rdfs:label nl Irregulaire tarsale ossificatie CANDIDATE +en Irregular thumb epiphysis HP:0009691 rdfs:label nl Irregulaire duim epifyse CANDIDATE +en Irregular vertebral endplates HP:0003301 rdfs:label nl Irregulaire vertebrale eindplaten CANDIDATE +en Irregular, rachitic-like metaphyses HP:0005042 rdfs:label nl Irregulaire, rachitis-like metaphysen CANDIDATE +en Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant HP:0031986 IAO:0000115 nl Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant NOT_TRANSLATED +en Irregularities of the iliac crest that produce the appearance of a lace border around it HP:0008786 IAO:0000115 nl Irregularities of the iliac crest that produce the appearance of a lace border around it NOT_TRANSLATED +en Irregularity of the iliac crest, which is the superior border of the wing of the ilium HP:0003796 IAO:0000115 nl Irregularity of the iliac crest, which is the superior border of the wing of the ilium NOT_TRANSLATED +en Irregularity of the normally smooth surface of a metaphysis of a fibula HP:0030293 IAO:0000115 nl Irregularity of the normally smooth surface of a metaphysis of a fibula NOT_TRANSLATED +en Irregularity of the normally smooth surface of a metaphysis of a tibia HP:0030292 IAO:0000115 nl Irregularity of the normally smooth surface of a metaphysis of a tibia NOT_TRANSLATED +en Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg HP:0030291 IAO:0000115 nl Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg NOT_TRANSLATED +en Irregularity of the normally smooth surface of the distal metaphysis of the femur HP:0045079 IAO:0000115 nl Irregularity of the normally smooth surface of the distal metaphysis of the femur NOT_TRANSLATED +en Irregularity of the normally smooth surface of the metaphyses HP:0003025 IAO:0000115 nl Irregularity of the normally smooth surface of the metaphyses NOT_TRANSLATED +en Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow) HP:0003951 IAO:0000115 nl Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow) NOT_TRANSLATED +en Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder) HP:0005043 IAO:0000115 nl Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder) NOT_TRANSLATED +en Irregularity of the normally smooth surface of the metaphysis of the radius HP:0004019 IAO:0000115 nl Irregularity of the normally smooth surface of the metaphysis of the radius NOT_TRANSLATED +en Irregularity of the normally smooth surface of the metaphysis of the ulna HP:0004042 IAO:0000115 nl Irregularity of the normally smooth surface of the metaphysis of the ulna NOT_TRANSLATED +en Irregularity of the normally smooth surface of the proximal metaphysis of the femur HP:0003411 IAO:0000115 nl Irregularity of the normally smooth surface of the proximal metaphysis of the femur NOT_TRANSLATED +en Irregularity of vertebral bodies HP:0004582 rdfs:label nl Irregulairiteit van wervellichamen CANDIDATE +en Irregularly shaped metacarpal bones of varying degree HP:0005916 IAO:0000115 nl Irregularly shaped metacarpal bones of varying degree NOT_TRANSLATED +en Irregularly shaped sperm tail HP:0033393 rdfs:label nl Irregularly shaped sperm tail NOT_TRANSLATED +en Irregularly spaced teeth HP:0006316 rdfs:label nl Onregelmatig uit elkaar staande tanden CANDIDATE +en Irreversible airflow obstruction HP:0033541 rdfs:label nl Irreversible airflow obstruction NOT_TRANSLATED +en Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction) HP:0001700 IAO:0000115 nl Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction) NOT_TRANSLATED +en Irritability HP:0000737 rdfs:label nl Prikkelbaarheid CANDIDATE +en Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion HP:0034336 IAO:0000115 nl Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion NOT_TRANSLATED +en Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion HP:0033401 IAO:0000115 nl Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion NOT_TRANSLATED +en Ischemic stroke HP:0002140 rdfs:label nl Ischemische beroerte CANDIDATE +en Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries HP:0011636 IAO:0000115 nl Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries NOT_TRANSLATED +en Isolated diastolic hypotension HP:0500107 rdfs:label nl Isolated diastolic hypotension NOT_TRANSLATED +en Isolated patches of hardened skin (scleroderma) HP:0012344 IAO:0000115 nl Isolated patches of hardened skin (scleroderma) NOT_TRANSLATED +en Isolated systolic hypertension HP:0500106 rdfs:label nl Isolated systolic hypertension NOT_TRANSLATED +en Isolation of the left subclavian artery HP:0031633 rdfs:label nl Isolatie van de arteria subclavia links CANDIDATE +en Isoleucinuria HP:0032371 rdfs:label nl Isoleucinuria NOT_TRANSLATED +en Isomerism HP:0031853 rdfs:label nl Isomerism NOT_TRANSLATED +en Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other HP:0031853 IAO:0000115 nl Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other NOT_TRANSLATED +en Isometric tremor HP:0030185 rdfs:label nl Isometrische tremor CANDIDATE +en Isoniazid exposure HP:4000137 rdfs:label nl Isoniazid exposure NOT_TRANSLATED +en Isosexual precocious puberty HP:0008236 rdfs:label nl Isoseksuele pubertas praecox CANDIDATE +en Isothenuria HP:0030036 rdfs:label nl Isosthenurie CANDIDATE +en It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis HP:0550005 IAO:0000115 nl It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis NOT_TRANSLATED +en It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum HP:0500009 IAO:0000115 nl It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum NOT_TRANSLATED +en It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea HP:0003193 IAO:0000115 nl It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea NOT_TRANSLATED +en It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development HP:0032479 IAO:0000115 nl It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development NOT_TRANSLATED +en Ivory epiphyses HP:0010583 rdfs:label nl Ivoren epifysen CANDIDATE +en Ivory epiphyses of the 2nd finger HP:0009494 rdfs:label nl Ivoren epifysen van de 2e vinger CANDIDATE +en Ivory epiphyses of the 2nd toe HP:0100050 rdfs:label nl Ivoren epifysen van de 2e teen CANDIDATE +en Ivory epiphyses of the 3rd finger HP:0009416 rdfs:label nl Ivoren epifysen van de 3e vinger CANDIDATE +en Ivory epiphyses of the 3rd toe HP:0100061 rdfs:label nl Ivoren epifysen van de 3e teen CANDIDATE +en Ivory epiphyses of the 4th finger HP:0009399 rdfs:label nl Ivoren epifysen van de 4e vinger CANDIDATE +en Ivory epiphyses of the 4th toe HP:0100072 rdfs:label nl Ivoren epifysen van de 4e teen CANDIDATE +en Ivory epiphyses of the 5th finger HP:0009388 rdfs:label nl Ivoren epifysen van de 5e vinger CANDIDATE +en Ivory epiphyses of the 5th toe HP:0100083 rdfs:label nl Ivoren epifysen van de 5e teen CANDIDATE +en Ivory epiphyses of the distal phalanges of the hand HP:0010252 rdfs:label nl Ivoren epifysen van distale falangen van hand CANDIDATE +en Ivory epiphyses of the hallux HP:0010119 rdfs:label nl Ivoren epifysen van de hallux CANDIDATE +en Ivory epiphyses of the metacarpals HP:0009191 rdfs:label nl Ivoren epifysen van de metacarpalen CANDIDATE +en Ivory epiphyses of the middle phalanges of the hand HP:0010263 rdfs:label nl Ivoren epifysen van middelste falangen van hand CANDIDATE +en Ivory epiphyses of the phalanges of the hand HP:0010234 rdfs:label nl Ivoren epifysen van falangen van hand CANDIDATE +en Ivory epiphyses of the proximal phalanges of the hand HP:0010274 rdfs:label nl Ivoren epifysen van proximale falangen van hand CANDIDATE +en Ivory epiphyses of the toes HP:0010168 rdfs:label nl Ivoren epifysen van de tenen CANDIDATE +en Ivory epiphysis of the 1st metacarpal HP:0010021 rdfs:label nl Ivoren epifyse van de 1e metacarpaal CANDIDATE +en Ivory epiphysis of the 1st metatarsal HP:0010155 rdfs:label nl Ivoren epifyse van de 1e metatarsaal CANDIDATE +en Ivory epiphysis of the distal phalanx of the 2nd finger HP:0009508 rdfs:label nl Ivoren epifyse van de distale falanx van de 2e vinger CANDIDATE +en Ivory epiphysis of the distal phalanx of the 2nd toe HP:0100106 rdfs:label nl Ivoren epifyse van de distale falanx van de 2e teen CANDIDATE +en Ivory epiphysis of the distal phalanx of the 3rd finger HP:0009341 rdfs:label nl Ivoren epifyse van de distale falanx van de 3e vinger CANDIDATE +en Ivory epiphysis of the distal phalanx of the 3rd toe HP:0100141 rdfs:label nl Ivoren epifyse van de distale falanx van de 3e teen CANDIDATE +en Ivory epiphysis of the distal phalanx of the 4th finger HP:0009256 rdfs:label nl Ivoren epifyse van de distale falanx van de 4e vinger CANDIDATE +en Ivory epiphysis of the distal phalanx of the 4th toe HP:0100175 rdfs:label nl Ivoren epifyse van de distale falanx van de 4e teen CANDIDATE +en Ivory epiphysis of the distal phalanx of the 5th finger HP:0004223 rdfs:label nl Ivoren epifyse van de distale falanx van de 5e vinger CANDIDATE +en Ivory epiphysis of the distal phalanx of the 5th toe HP:0100208 rdfs:label nl Ivoren epifyse van de distale falanx van de 5e teen CANDIDATE +en Ivory epiphysis of the distal phalanx of the hallux HP:0010144 rdfs:label nl Ivoren epifyse van de distale falanx van de hallux CANDIDATE +en Ivory epiphysis of the distal phalanx of the thumb HP:0009681 rdfs:label nl Ivoren epifyse van de distale falanx van de duim CANDIDATE +en Ivory epiphysis of the middle phalanx of the 2nd finger HP:0009519 rdfs:label nl Ivoren epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Ivory epiphysis of the middle phalanx of the 2nd toe HP:0100117 rdfs:label nl Ivoren epifyse van de middelste falanx van de 2e teen CANDIDATE +en Ivory epiphysis of the middle phalanx of the 3rd finger HP:0009327 rdfs:label nl Ivoren epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Ivory epiphysis of the middle phalanx of the 3rd toe HP:0100152 rdfs:label nl Ivoren epifyse van de middelste falanx van de 3e teen CANDIDATE +en Ivory epiphysis of the middle phalanx of the 4th finger HP:0009220 rdfs:label nl Ivoren epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Ivory epiphysis of the middle phalanx of the 4th toe HP:0100186 rdfs:label nl Ivoren epifyse van de middelste falanx van de 4e teen CANDIDATE +en Ivory epiphysis of the middle phalanx of the 5th finger HP:0009209 rdfs:label nl Ivoren epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Ivory epiphysis of the middle phalanx of the 5th toe HP:0100219 rdfs:label nl Ivoren epifyse van de middelste falanx van de 5e teen CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 2nd finger HP:0009530 rdfs:label nl Ivoren epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 2nd toe HP:0100128 rdfs:label nl Ivoren epifyse van de proximale falanx van de 2e teen CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 3rd finger HP:0009352 rdfs:label nl Ivoren epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 3rd toe HP:0100163 rdfs:label nl Ivoren epifyse van de proximale falanx van de 3e teen CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 4th finger HP:0009267 rdfs:label nl Ivoren epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 4th toe HP:0100197 rdfs:label nl Ivoren epifyse van de proximale falanx van de 4e teen CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 5th finger HP:0009157 rdfs:label nl Ivoren epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Ivory epiphysis of the proximal phalanx of the 5th toe HP:0100230 rdfs:label nl Ivoren epifyse van de proximale falanx van de 5e teen CANDIDATE +en Ivory epiphysis of the proximal phalanx of the hallux HP:0010133 rdfs:label nl Ivoren epifyse van de proximale falanx van de hallux CANDIDATE +en Ivory epiphysis of the proximal phalanx of the thumb HP:0009670 rdfs:label nl Ivoren epifyse van de proximale falanx van de duim CANDIDATE +en Ivory epiphysis of the thumb HP:0009692 rdfs:label nl Ivoren epifyse van de duim CANDIDATE +en J wave HP:0012272 rdfs:label nl J-golf CANDIDATE +en J-shaped sella turcica HP:0002680 rdfs:label nl J-vormige sella turcica CANDIDATE +en Jamais vu aura HP:0012006 rdfs:label nl Jamais vu CANDIDATE +en Jaundice HP:0000952 rdfs:label nl Geelzucht CANDIDATE +en Jaundice that is sometimes present, sometimes not HP:0001046 IAO:0000115 nl Jaundice that is sometimes present, sometimes not NOT_TRANSLATED +en Jaw ankylosis HP:0040263 rdfs:label nl Ankylose van de kaak CANDIDATE +en Jaw claudication HP:0030164 rdfs:label nl Kaak claudicatio CANDIDATE +en Jaw contracture HP:0033333 rdfs:label nl Jaw contracture NOT_TRANSLATED +en Jaw hyperreflexia HP:0033683 rdfs:label nl Jaw hyperreflexia NOT_TRANSLATED +en Jaw hyporeflexia HP:0012392 rdfs:label nl Kaak hyporeflexie CANDIDATE +en Jaw neoplasm HP:0030792 rdfs:label nl Kaak neoplasma CANDIDATE +en Jaw pain HP:0040264 rdfs:label nl Kaakpijn CANDIDATE +en Jaw swelling HP:0030793 rdfs:label nl Kaakzwelling CANDIDATE +en Jejunal adenocarcinoma HP:0030411 rdfs:label nl Jejunaal adenocarcinoom CANDIDATE +en Jejunal arteriovenous malformation HP:0031343 rdfs:label nl Jejunale arterioveneuze malformatie CANDIDATE +en Jejunal atresia HP:0005235 rdfs:label nl Jejunale atresie CANDIDATE +en Jejunal diverticula HP:0004786 rdfs:label nl Divertikels van jejunum CANDIDATE +en Jejunitis HP:0033143 rdfs:label nl Jejunitis NOT_TRANSLATED +en Jejunoileal diverticula HP:0004799 rdfs:label nl Jejuno-ileale divertikels CANDIDATE +en Jejunoileal ulceration HP:0005229 rdfs:label nl Jejuno-ileale ulceratie CANDIDATE +en Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG HP:0001351 IAO:0000115 nl Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG NOT_TRANSLATED +en Jerk-locked premyoclonus spikes HP:0001351 rdfs:label nl Jerk-locked premyoclonus spikes NOT_TRANSLATED +en Jerky head movements HP:0006961 rdfs:label nl Krampachtige hoofdbewegingen CANDIDATE +en Jerky ocular pursuit movements HP:0008003 rdfs:label nl Krampachtige oogvolgbewegingen CANDIDATE +en Joining of the spleen and a gonad during embryological development HP:0025410 IAO:0000115 nl Joining of the spleen and a gonad during embryological development NOT_TRANSLATED +en Joint contracture HP:0034392 rdfs:label nl Joint contracture NOT_TRANSLATED +en Joint contracture of the 3rd finger HP:0009319 rdfs:label nl Gewrichtscontractuur van de 3e vinger CANDIDATE +en Joint contracture of the 4th finger HP:0009274 rdfs:label nl Gewrichtscontractuur van de 4e vinger CANDIDATE +en Joint contracture of the 5th finger HP:0009183 rdfs:label nl Gewrichtscontractuur van de 5e vinger CANDIDATE +en Joint contracture of the hand HP:0009473 rdfs:label nl Gewrichtscontractuur van de hand CANDIDATE +en Joint crepitus HP:0034431 rdfs:label nl Joint crepitus NOT_TRANSLATED +en Joint dislocation HP:0001373 rdfs:label nl Ontwrichting CANDIDATE +en Joint dislocation of the femoral head HP:0008826 IAO:0000115 nl Joint dislocation of the femoral head NOT_TRANSLATED +en Joint extensor surface localization HP:0032539 rdfs:label nl Joint extensor surface localization NOT_TRANSLATED +en Joint flexor surface localization HP:0032540 rdfs:label nl Joint flexor surface localization NOT_TRANSLATED +en Joint hemorrhage HP:0005261 rdfs:label nl Gewrichtsbloeding CANDIDATE +en Joint hyperflexibility HP:0005692 rdfs:label nl Gewrichtshypermobiliteit CANDIDATE +en Joint hypermobility HP:0001382 rdfs:label nl Gewrichtshypermobiliteit CANDIDATE +en Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body HP:0002761 IAO:0000115 nl Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body NOT_TRANSLATED +en Joint laxity HP:0001388 rdfs:label nl Gewrichtsslapte CANDIDATE +en Joint pain HP:0002829 IAO:0000115 nl Joint pain NOT_TRANSLATED +en Joint pain affecting the hip HP:0003365 IAO:0000115 nl Joint pain affecting the hip NOT_TRANSLATED +en Joint stiffness HP:0001387 rdfs:label nl Gewrichts-stijfheid CANDIDATE +en Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time HP:0001387 IAO:0000115 nl Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time NOT_TRANSLATED +en Joint subluxation HP:0032153 rdfs:label nl Joint subluxation NOT_TRANSLATED +en Joint swelling HP:0001386 rdfs:label nl Gewrichtszwelling CANDIDATE +en Junctional ectopic tachycardia HP:0011716 rdfs:label nl Junctionele ectopische tachycardie CANDIDATE +en Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern HP:0011716 IAO:0000115 nl Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern NOT_TRANSLATED +en Juvenile aseptic necrosis HP:0100323 rdfs:label nl Juveniele aseptische necrose CANDIDATE +en Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers HP:0100323 IAO:0000115 nl Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers NOT_TRANSLATED +en Juvenile cataract HP:0001118 rdfs:label nl Juveniel cataract CANDIDATE +en Juvenile colonic polyposis HP:0012198 rdfs:label nl Juveniele polyposis van colon CANDIDATE +en Juvenile epithelial corneal dystrophy HP:0007755 rdfs:label nl Juveniele epitheliale corneadystrofie CANDIDATE +en Juvenile gastrointestinal polyposis HP:0004784 rdfs:label nl Juveniele gastro-intestinale polyposis CANDIDATE +en Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type HP:0031919 IAO:0000115 nl Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type NOT_TRANSLATED +en Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia HP:0034380 IAO:0000115 nl Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia NOT_TRANSLATED +en Juvenile myelomonocytic leukemia HP:0012209 rdfs:label nl Juveniele myelomonocytaire leukemie CANDIDATE +en Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor HP:0012209 IAO:0000115 nl Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor NOT_TRANSLATED +en Juvenile nasopharyngeal angiofibroma HP:0030429 rdfs:label nl Juveniel nasofaryngeaal angiofibroom CANDIDATE +en Juvenile onset HP:0003621 rdfs:label nl Juveniele onset CANDIDATE +en Juvenile posterior subcapsular lenticular opacities HP:0007935 rdfs:label nl Juveniele posterieure subcapsulaire lenticulaire opaciteiten CANDIDATE +en Juvenile rheumatoid arthritis HP:0005681 rdfs:label nl Juveniele reumatoïde artritis CANDIDATE +en Juvenile type ovarian granulosa cell tumor HP:0031919 rdfs:label nl Juvenile type ovarian granulosa cell tumor NOT_TRANSLATED +en Juvenile type testicular granulosa cell tumor HP:0034380 rdfs:label nl Juvenile type testicular granulosa cell tumor NOT_TRANSLATED +en Juxtaductal coarctation of the aorta HP:0011646 rdfs:label nl Juxtaductale coarctatie van de aorta CANDIDATE +en Juxtafoveal choroidal neovascularization HP:0031240 rdfs:label nl Juxtafoveale choroïdale neovascularisatie CANDIDATE +en Juxtaphrenic peak HP:0033656 rdfs:label nl Juxtaphrenic peak NOT_TRANSLATED +en Kaposi's sarcoma HP:0100726 rdfs:label nl Kaposi's sarcoom CANDIDATE +en Kappa Bence Jones proteinuria HP:0032302 rdfs:label nl Kappa Bence Jones proteinuria NOT_TRANSLATED +en Kayser-Fleischer ring HP:0200032 rdfs:label nl Kayser-Fleischer ring CANDIDATE +en Keloids HP:0010562 rdfs:label nl Keloïden CANDIDATE +en Keratan sulfate excretion in urine HP:0012069 rdfs:label nl Kerataan sulfaat excretie in urine CANDIDATE +en Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot HP:0007462 IAO:0000115 nl Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot NOT_TRANSLATED +en Keratinocyte vacuolization HP:0034703 rdfs:label nl Vacuolisatie van keratinocyten OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Keratitis HP:0000491 rdfs:label nl Keratitis CANDIDATE +en Keratoacanthoma HP:0031525 rdfs:label nl Keratoacanthoom CANDIDATE +en Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals HP:0031525 IAO:0000115 nl Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals NOT_TRANSLATED +en Keratoconjunctivitis HP:0001096 rdfs:label nl Keratoconjunctivitis CANDIDATE +en Keratoconjunctivitis sicca HP:0001097 rdfs:label nl Keratoconjunctivitis sicca CANDIDATE +en Keratoconus HP:0000563 rdfs:label nl Keratoconus CANDIDATE +en Keratoglobus HP:0001119 rdfs:label nl Keratoglobus CANDIDATE +en Keratosis pilaris HP:0032152 rdfs:label nl Keratosis pilaris NOT_TRANSLATED +en Kernicterus HP:0001343 rdfs:label nl Kernicterus CANDIDATE +en Ketoacidosis HP:0001993 rdfs:label nl Ketoacidose CANDIDATE +en Ketonuria HP:0002919 rdfs:label nl Ketonurie CANDIDATE +en Ketosis HP:0001946 rdfs:label nl Ketose CANDIDATE +en Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin HP:0008205 IAO:0000115 nl Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin NOT_TRANSLATED +en Ketotic hypoglycemia HP:0012734 rdfs:label nl Ketotische hypoglykemie CANDIDATE +en Kinesiophobia HP:4000009 rdfs:label nl Kinesiophobia NOT_TRANSLATED +en Kinetic tremor HP:0030186 rdfs:label nl Kinetische tremor CANDIDATE +en Kinked brainstem HP:0012793 rdfs:label nl Kinked brainstem NOT_TRANSLATED +en Knee clonus HP:0011449 rdfs:label nl Knie clonus CANDIDATE +en Knee contracture HP:0034671 rdfs:label nl Kniecontractuur OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Knee dislocation HP:0004976 rdfs:label nl Knie dislocatie CANDIDATE +en Knee flexion contracture HP:0006380 rdfs:label nl Knie flexiecontractuur CANDIDATE +en Knee joint hypermobility HP:0045086 rdfs:label nl Kniegewricht hypermobiliteit CANDIDATE +en Knee osteoarthritis HP:0005086 rdfs:label nl Knie osteoartritis CANDIDATE +en Knee pain HP:0030839 rdfs:label nl Kniepijn CANDIDATE +en Knuckle pad HP:0032541 rdfs:label nl Knuckle pad NOT_TRANSLATED +en Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern HP:0032541 IAO:0000115 nl Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern NOT_TRANSLATED +en Kyphoscoliosis HP:0002751 rdfs:label nl Kyphoscoliosis CANDIDATE +en Kyphosis HP:0002808 rdfs:label nl Kyfose CANDIDATE +en L-2-hydroxyglutaric acidemia HP:0040147 rdfs:label nl L-2-hydroxyglutaarzuuracidemie CANDIDATE +en L-2-hydroxyglutaric aciduria HP:0040144 rdfs:label nl L-2-hydroxyglutaarzuuracidurie CANDIDATE +en L-looping of the right ventricle HP:0011544 rdfs:label nl L-looping of the right ventricle NOT_TRANSLATED +en L-shaped kidney HP:0034234 rdfs:label nl L-shaped kidney NOT_TRANSLATED +en Labial abscess HP:0033758 rdfs:label nl Labial abscess NOT_TRANSLATED +en Labial adhesion HP:0033588 rdfs:label nl Labial adhesion NOT_TRANSLATED +en Labial hemangioma HP:0410269 rdfs:label nl Labial hemangioma NOT_TRANSLATED +en Labial hypertrophy HP:0000065 rdfs:label nl Labiale hypertrofie CANDIDATE +en Labial hypoplasia HP:0000066 rdfs:label nl Labiale hypoplasie CANDIDATE +en Labial melanotic macule HP:0032454 rdfs:label nl Labial melanotic macule NOT_TRANSLATED +en Labial pseudohypertrophy HP:0008739 rdfs:label nl Labiale pseudohypertrofie CANDIDATE +en Labiomental fasciculations HP:0032507 rdfs:label nl Labiomental fasciculations NOT_TRANSLATED +en Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip HP:0034416 IAO:0000115 nl Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip NOT_TRANSLATED +en Lack (aplasia) of the ethmoidal sinus HP:0005456 IAO:0000115 nl Lack (aplasia) of the ethmoidal sinus NOT_TRANSLATED +en Lack of CD4+CD25+ T regulatory cells HP:0030336 IAO:0000115 nl Lack of CD4+CD25+ T regulatory cells NOT_TRANSLATED +en Lack of T cell function HP:0005354 rdfs:label nl Gebrek aan T-cel functie CANDIDATE +en Lack of a palpable nasal cartilage HP:0030028 IAO:0000115 nl Lack of a palpable nasal cartilage NOT_TRANSLATED +en Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart HP:0011635 IAO:0000115 nl Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart NOT_TRANSLATED +en Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy HP:0030101 IAO:0000115 nl Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy NOT_TRANSLATED +en Lack of any response to stimulation upon electroretinography HP:0000550 IAO:0000115 nl Lack of any response to stimulation upon electroretinography NOT_TRANSLATED +en Lack of bowel sounds HP:0030145 rdfs:label nl Gebrek aan darm geluiden CANDIDATE +en Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event HP:0002104 IAO:0000115 nl Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event NOT_TRANSLATED +en Lack of clarity and coherence of thought, perception, understanding, or action HP:0001289 IAO:0000115 nl Lack of clarity and coherence of thought, perception, understanding, or action NOT_TRANSLATED +en Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus HP:0031827 IAO:0000115 nl Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus NOT_TRANSLATED +en Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix HP:0011268 IAO:0000115 nl Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix NOT_TRANSLATED +en Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin HP:0034256 IAO:0000115 nl Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin NOT_TRANSLATED +en Lack of detectable fibrinogen in the blood circulation HP:0034287 IAO:0000115 nl Lack of detectable fibrinogen in the blood circulation NOT_TRANSLATED +en Lack of detectible CD8-positive T cells HP:0005422 IAO:0000115 nl Lack of detectible CD8-positive T cells NOT_TRANSLATED +en Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby HP:0034262 IAO:0000115 nl Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby NOT_TRANSLATED +en Lack of development of one lung HP:0030707 IAO:0000115 nl Lack of development of one lung NOT_TRANSLATED +en Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus HP:0006591 IAO:0000115 nl Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus NOT_TRANSLATED +en Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy HP:0030097 IAO:0000115 nl Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy NOT_TRANSLATED +en Lack of emotional reactivity and empathy for situations or persons, sometime also for family members HP:0030213 IAO:0000115 nl Lack of emotional reactivity and empathy for situations or persons, sometime also for family members NOT_TRANSLATED +en Lack of external genitalia in a male or female individual HP:0000042 IAO:0000115 nl Lack of external genitalia in a male or female individual NOT_TRANSLATED +en Lack of eyelashes HP:0000561 IAO:0000115 nl Lack of eyelashes NOT_TRANSLATED +en Lack of eyelashes on the lower lid HP:0007646 IAO:0000115 nl Lack of eyelashes on the lower lid NOT_TRANSLATED +en Lack of facial subcutaneous fat HP:0005320 rdfs:label nl Tekort van faciaal subcutaan vet CANDIDATE +en Lack of formation (congenital absence) of the olfactory bulb HP:0032466 IAO:0000115 nl Lack of formation (congenital absence) of the olfactory bulb NOT_TRANSLATED +en Lack of formation and mineralization of the ribs in utero HP:0006615 IAO:0000115 nl Lack of formation and mineralization of the ribs in utero NOT_TRANSLATED +en Lack of formation of bone in the epiphysis of the humerus HP:0003892 IAO:0000115 nl Lack of formation of bone in the epiphysis of the humerus NOT_TRANSLATED +en Lack of formation of mineralized bony tissue of the sternum HP:0006628 IAO:0000115 nl Lack of formation of mineralized bony tissue of the sternum NOT_TRANSLATED +en Lack of formation of the palatine bone HP:0430013 IAO:0000115 nl Lack of formation of the palatine bone NOT_TRANSLATED +en Lack of gonadotropin-releasing hormone pulsatility HP:0500013 rdfs:label nl Gebrek aan gonadotropin-releasing hormoon pulsatiliteit CANDIDATE +en Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor HP:0030203 IAO:0000115 nl Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor NOT_TRANSLATED +en Lack of insight HP:0000757 rdfs:label nl Gebrek aan inzicht CANDIDATE +en Lack of interest of an individual for peers of comparable age and social groups HP:4000083 IAO:0000115 nl Lack of interest of an individual for peers of comparable age and social groups NOT_TRANSLATED +en Lack of intermediate von Willebrand Factor multimers on gel electrophoresis HP:0030135 IAO:0000115 nl Lack of intermediate von Willebrand Factor multimers on gel electrophoresis NOT_TRANSLATED +en Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin HP:0033807 IAO:0000115 nl Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin NOT_TRANSLATED +en Lack of measurable response to stimulation of auditory evoked potentials HP:0004463 IAO:0000115 nl Lack of measurable response to stimulation of auditory evoked potentials NOT_TRANSLATED +en Lack of merosin protein in the muscle biopsy HP:0030091 IAO:0000115 nl Lack of merosin protein in the muscle biopsy NOT_TRANSLATED +en Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis HP:0040219 IAO:0000115 nl Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis NOT_TRANSLATED +en Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above HP:0031518 IAO:0000115 nl Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above NOT_TRANSLATED +en Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis HP:0002372 IAO:0000115 nl Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis NOT_TRANSLATED +en Lack of observable tonsillar tissue HP:0030813 IAO:0000115 nl Lack of observable tonsillar tissue NOT_TRANSLATED +en Lack of one or more of the normal pulmonary fissures HP:0032995 IAO:0000115 nl Lack of one or more of the normal pulmonary fissures NOT_TRANSLATED +en Lack of ossification of the proximal epiphysis of the femur HP:0008820 IAO:0000115 nl Lack of ossification of the proximal epiphysis of the femur NOT_TRANSLATED +en Lack of ossification of the sacrum HP:0030290 IAO:0000115 nl Lack of ossification of the sacrum NOT_TRANSLATED +en Lack of paramedian peaks and median notch of the upper lip vermilion HP:0010800 IAO:0000115 nl Lack of paramedian peaks and median notch of the upper lip vermilion NOT_TRANSLATED +en Lack of peer relationships HP:0002332 rdfs:label nl Tekort aan relaties met naasten CANDIDATE +en Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects HP:0002312 IAO:0000115 nl Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects NOT_TRANSLATED +en Lack of platelet dense granules, a type of platelet organelles HP:0033263 IAO:0000115 nl Lack of platelet dense granules, a type of platelet organelles NOT_TRANSLATED +en Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge HP:0000457 IAO:0000115 nl Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge NOT_TRANSLATED +en Lack of recognizable penile structures HP:0030261 IAO:0000115 nl Lack of recognizable penile structures NOT_TRANSLATED +en Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex HP:0031829 IAO:0000115 nl Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex NOT_TRANSLATED +en Lack of separation of the upper and lower lips HP:0100788 IAO:0000115 nl Lack of separation of the upper and lower lips NOT_TRANSLATED +en Lack of sharpness of vision resulting in the inability to see fine detail HP:0000622 IAO:0000115 nl Lack of sharpness of vision resulting in the inability to see fine detail NOT_TRANSLATED +en Lack of skin elasticity HP:0100679 rdfs:label nl Tekort aan huid elasticiteit CANDIDATE +en Lack of skin pigmentation (coloring) HP:0200098 IAO:0000115 nl Lack of skin pigmentation (coloring) NOT_TRANSLATED +en Lack of skin pigmentation (coloring) of the abdomen HP:0012319 IAO:0000115 nl Lack of skin pigmentation (coloring) of the abdomen NOT_TRANSLATED +en Lack of skin pigmentation (coloring) of the anterior chest HP:0007542 IAO:0000115 nl Lack of skin pigmentation (coloring) of the anterior chest NOT_TRANSLATED +en Lack of skin pigmentation (coloring) of the arms and legs HP:0012320 IAO:0000115 nl Lack of skin pigmentation (coloring) of the arms and legs NOT_TRANSLATED +en Lack of skin pigmentation (coloring) of the chest HP:0040007 IAO:0000115 nl Lack of skin pigmentation (coloring) of the chest NOT_TRANSLATED +en Lack of social initiations HP:4000080 rdfs:label nl Lack of social initiations NOT_TRANSLATED +en Lack of specific granules in neutrophils HP:0012551 IAO:0000115 nl Lack of specific granules in neutrophils NOT_TRANSLATED +en Lack of spontaneous play HP:0000721 rdfs:label nl Gebrek aan spontaan spel CANDIDATE +en Lack of stability of a distal joint (e.g., finger) HP:0020152 IAO:0000115 nl Lack of stability of a distal joint (e.g., finger) NOT_TRANSLATED +en Lack of stability of a joint HP:0001388 IAO:0000115 nl Lack of stability of a joint NOT_TRANSLATED +en Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall HP:0004878 IAO:0000115 nl Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall NOT_TRANSLATED +en Lack of strength of the proximal muscles that becomes progressively more severe HP:0009073 IAO:0000115 nl Lack of strength of the proximal muscles that becomes progressively more severe NOT_TRANSLATED +en Lack of strength of the proximal musculature occurring late in the clinical course HP:0003694 IAO:0000115 nl Lack of strength of the proximal musculature occurring late in the clinical course NOT_TRANSLATED +en Lack of subcutaneous adipose tissue HP:0007485 IAO:0000115 nl Lack of subcutaneous adipose tissue NOT_TRANSLATED +en Lack of symmetry between the left and right halves of the thorax HP:0001555 IAO:0000115 nl Lack of symmetry between the left and right halves of the thorax NOT_TRANSLATED +en Lack of symmetry between the left and right mandible HP:0009940 IAO:0000115 nl Lack of symmetry between the left and right mandible NOT_TRANSLATED +en Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible HP:0000805 IAO:0000115 nl Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible NOT_TRANSLATED +en Lack of the cartilage of the nasal septum HP:0005273 IAO:0000115 nl Lack of the cartilage of the nasal septum NOT_TRANSLATED +en Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope HP:0030825 IAO:0000115 nl Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope NOT_TRANSLATED +en Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail HP:0030805 IAO:0000115 nl Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail NOT_TRANSLATED +en Lack of the uvula HP:0010292 IAO:0000115 nl Lack of the uvula NOT_TRANSLATED +en Lack of tooth eruption of the secondary dentition HP:0006352 IAO:0000115 nl Lack of tooth eruption of the secondary dentition NOT_TRANSLATED +en Lack of transparency of the corneal epithelium HP:0007727 IAO:0000115 nl Lack of transparency of the corneal epithelium NOT_TRANSLATED +en Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine HP:0003606 IAO:0000115 nl Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine NOT_TRANSLATED +en Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration HP:0031662 IAO:0000115 nl Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration NOT_TRANSLATED +en Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones HP:0025152 IAO:0000115 nl Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones NOT_TRANSLATED +en Lack or loss of the soft tissues between the zygomata and mandible HP:0009938 IAO:0000115 nl Lack or loss of the soft tissues between the zygomata and mandible NOT_TRANSLATED +en Lacrimal duct aplasia HP:0007925 rdfs:label nl Aplasie van de traanbuis CANDIDATE +en Lacrimal duct atresia HP:0000564 rdfs:label nl Atresie van de traanbuis CANDIDATE +en Lacrimal duct stenosis HP:0007678 rdfs:label nl Stenose van de traanbuis CANDIDATE +en Lacrimal gland aplasia HP:0007656 rdfs:label nl Aplasie van de traanklier CANDIDATE +en Lacrimal gland hypoplasia HP:0007732 rdfs:label nl Hypoplasie van de traanklier CANDIDATE +en Lacrimal pump failure HP:0031734 rdfs:label nl Lacrimale pomp falen CANDIDATE +en Lacrimal punctal atresia HP:0007820 rdfs:label nl Punctum lacrimale atresie CANDIDATE +en Lacrimation abnormality HP:0000632 rdfs:label nl Traanproductie abnormaliteit CANDIDATE +en Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges HP:0025130 IAO:0000115 nl Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges NOT_TRANSLATED +en Lactescent serum HP:0031028 rdfs:label nl Lactescent serum NOT_TRANSLATED +en Lactic acidosis HP:0003128 rdfs:label nl Lactaat acidose CANDIDATE +en Lacticaciduria HP:0003648 rdfs:label nl Lactaatacidurie CANDIDATE +en Lactose intolerance HP:0004789 rdfs:label nl Lactose-intolerantie CANDIDATE +en Lacunar halos around chondrocytes HP:0032930 rdfs:label nl Lacunar halos around chondrocytes NOT_TRANSLATED +en Lacunar stroke HP:0032325 rdfs:label nl Lacunar stroke NOT_TRANSLATED +en Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons HP:0032570 IAO:0000115 nl Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons NOT_TRANSLATED +en Lafora bodies HP:0100318 rdfs:label nl Lafora bodies CANDIDATE +en Lagophthalmos HP:0030001 rdfs:label nl Lagopthalmos CANDIDATE +en Lambda Bence Jones proteinuria HP:0032303 rdfs:label nl Lambda Bence Jones proteinuria NOT_TRANSLATED +en Lambdoidal craniosynostosis HP:0004443 rdfs:label nl Lambdoidale craniosynostose CANDIDATE +en Lamellar cataract HP:0007971 rdfs:label nl Lamellair catarac CANDIDATE +en Lamellar cataract with riders HP:0025558 rdfs:label nl Lamellar cataract with riders NOT_TRANSLATED +en Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens HP:0025558 IAO:0000115 nl Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens NOT_TRANSLATED +en Lamellar pulverulent cataract HP:0010694 rdfs:label nl Lamellair pulverachtige cataract CANDIDATE +en Lamellated intracytoplasmic lipid inclusions within podocytes HP:0033265 IAO:0000115 nl Lamellated intracytoplasmic lipid inclusions within podocytes NOT_TRANSLATED +en Lamina lucida cleavage HP:0003341 rdfs:label nl Lamina lucida cleavage NOT_TRANSLATED +en Laminar thickening of skin HP:0001072 IAO:0000115 nl Laminar thickening of skin NOT_TRANSLATED +en Language impairment HP:0002463 rdfs:label nl Taal verslechtering CANDIDATE +en Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations HP:0002463 IAO:0000115 nl Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations NOT_TRANSLATED +en Large basal ganglia HP:0007048 rdfs:label nl Grote basale ganglia CANDIDATE +en Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system HP:0033591 IAO:0000115 nl Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system NOT_TRANSLATED +en Large cafe-au-lait macules with irregular margins HP:0005605 rdfs:label nl Grote café-au-lait maculae met irregulaire marges CANDIDATE +en Large capitate bone HP:0004263 rdfs:label nl Groot os capitatum CANDIDATE +en Large carpal bones HP:0004237 rdfs:label nl Grote carpale botten CANDIDATE +en Large cell lung carcinoma HP:0030360 rdfs:label nl Grootcellig longcarcinoom CANDIDATE +en Large central visual field defect HP:0001129 rdfs:label nl Groot centraal gezichtsveld defect CANDIDATE +en Large clumps of pigment irregularly distributed along hair shaft HP:0004527 rdfs:label nl Grote klonten pigment onregelmatig verdeeld langs de haarschacht CANDIDATE +en Large earlobe HP:0009748 rdfs:label nl Grote oorlel CANDIDATE +en Large elbow HP:0030865 rdfs:label nl Grote elleboog CANDIDATE +en Large face HP:0100729 rdfs:label nl Groot gezicht CANDIDATE +en Large fleshy ears HP:0002265 rdfs:label nl Grote vlezige oren CANDIDATE +en Large fontanelles HP:0000239 rdfs:label nl Grote fontanellen CANDIDATE +en Large for gestational age HP:0001520 rdfs:label nl Groot voor zwangerschapsduur CANDIDATE +en Large foramen magnum HP:0002700 rdfs:label nl Grote foramen magnum CANDIDATE +en Large forehead HP:0002003 rdfs:label nl Groot verhoofd CANDIDATE +en Large hamate bone HP:0004260 rdfs:label nl Groot os hamatum CANDIDATE +en Large hands HP:0001176 rdfs:label nl Grote handen CANDIDATE +en Large humeral epiphyses HP:0003898 rdfs:label nl Grote epifysen van de humerus CANDIDATE +en Large hypermelanotic macules with jagged borders HP:0005605 IAO:0000115 nl Large hypermelanotic macules with jagged borders NOT_TRANSLATED +en Large hyperpigmented retinal spots HP:0007658 rdfs:label nl Grote gehyperpigmenteerde retina vlekken CANDIDATE +en Large iliac wing HP:0008818 rdfs:label nl Grote alae ossis ilium CANDIDATE +en Large intestinal polyposis HP:0030255 rdfs:label nl Polyposis van dikke darm CANDIDATE +en Large joint dislocations HP:0005008 rdfs:label nl Dislocatie groot gewricht CANDIDATE +en Large joint hypermobilty HP:0430047 rdfs:label nl Hypermobiliteit van de grote gewrichten OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Large knee HP:0030866 rdfs:label nl Grote knie CANDIDATE +en Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones' HP:0012370 IAO:0000115 nl Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones' NOT_TRANSLATED +en Large pelvis bone HP:0010779 rdfs:label nl Groot bekken bot CANDIDATE +en Large placenta HP:0006267 rdfs:label nl Grote placenta CANDIDATE +en Large posterior fontanelle HP:0004491 rdfs:label nl Grote achterste fontanel CANDIDATE +en Large radial epiphyses HP:0004005 rdfs:label nl Grote epifysen van de radius CANDIDATE +en Large sella turcica HP:0002690 rdfs:label nl Grote sella turcica CANDIDATE +en Large sternal ossification centers HP:0006642 rdfs:label nl Grote centra van sternale ossificatie CANDIDATE +en Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia HP:0032395 IAO:0000115 nl Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia NOT_TRANSLATED +en Large tarsal bones HP:0004679 rdfs:label nl Grote tarsale botten CANDIDATE +en Large vessel vasculitis HP:0005310 rdfs:label nl Grote vaten vasculitis CANDIDATE +en Larger than normal size of erythrocytes HP:0005518 IAO:0000115 nl Larger than normal size of erythrocytes NOT_TRANSLATED +en Laryngeal atresia HP:0008750 rdfs:label nl Laryngeale atresie CANDIDATE +en Laryngeal calcification HP:0008754 rdfs:label nl Laryngeale calcificatie CANDIDATE +en Laryngeal carcinoma HP:0012118 rdfs:label nl Larynxcarcinoom CANDIDATE +en Laryngeal cartilage malformation HP:0008752 rdfs:label nl Laryngeaal kraakbeen malformatie CANDIDATE +en Laryngeal cleft HP:0008751 rdfs:label nl Laryngeale schisis CANDIDATE +en Laryngeal cyst HP:0100640 rdfs:label nl Laryngeale cyste CANDIDATE +en Laryngeal dystonia HP:0012049 rdfs:label nl Laryngeale dystonie CANDIDATE +en Laryngeal edema HP:0012027 rdfs:label nl Laryngeaal oedeem CANDIDATE +en Laryngeal hemangioma HP:0410271 rdfs:label nl Laryngeal hemangioma NOT_TRANSLATED +en Laryngeal hypoplasia HP:0008749 rdfs:label nl Laryngeale hypoplasie CANDIDATE +en Laryngeal mass HP:0034412 rdfs:label nl Laryngeal mass NOT_TRANSLATED +en Laryngeal obstruction HP:0005945 rdfs:label nl Laryngeale obstructie CANDIDATE +en Laryngeal papilloma HP:0033001 rdfs:label nl Laryngeal papilloma NOT_TRANSLATED +en Laryngeal stenosis HP:0001602 rdfs:label nl Laryngeale stenose CANDIDATE +en Laryngeal stridor HP:0006511 rdfs:label nl Laryngeale stridor CANDIDATE +en Laryngeal web HP:0005950 rdfs:label nl Laryngeaal web CANDIDATE +en Laryngomalacia HP:0001601 rdfs:label nl Laryngomalacie CANDIDATE +en Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration HP:0001601 IAO:0000115 nl Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration NOT_TRANSLATED +en Laryngospasm HP:0025425 rdfs:label nl Laryngospasme CANDIDATE +en Laryngotracheal stenosis HP:0004894 rdfs:label nl Laryngotracheale stenose CANDIDATE +en Laryngotracheomalacia HP:0008755 rdfs:label nl Laryngotracheomalacie CANDIDATE +en Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation HP:0032247 IAO:0000115 nl Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation NOT_TRANSLATED +en Late chronotype HP:0031874 rdfs:label nl Late chronotype NOT_TRANSLATED +en Late first trimester onset HP:0034199 rdfs:label nl Late first trimester onset NOT_TRANSLATED +en Late inspiratory crackles HP:0031998 rdfs:label nl Late inspiratory crackles NOT_TRANSLATED +en Late onset HP:0003584 rdfs:label nl Late onset CANDIDATE +en Late onset atopic dermatitis HP:0007573 rdfs:label nl Late onset atopische dermatitis CANDIDATE +en Late onset congenital glaucoma HP:0008041 rdfs:label nl Late-onset congenitaal glaucoom CANDIDATE +en Late spermatogenesis maturation arrest HP:0031040 rdfs:label nl Late spermatogenesis maturation arrest NOT_TRANSLATED +en Late systolic murmur HP:0031666 rdfs:label nl Laatsystolische souffle CANDIDATE +en Late young adult onset HP:0025710 rdfs:label nl Late young adult onset NOT_TRANSLATED +en Late-onset distal muscle weakness HP:0003810 rdfs:label nl Late-onset distale spierzwakte CANDIDATE +en Late-onset muscular dystrophy HP:0007081 rdfs:label nl Late-onset musculaire dystrofie CANDIDATE +en Late-onset proximal muscle weakness HP:0003694 rdfs:label nl Late-onset proximale spierzwakte CANDIDATE +en Late-onset spinocerebellar degeneration HP:0006904 rdfs:label nl Late-onset spinocerebellaire degeneratie CANDIDATE +en Latent hypermetropia HP:0500042 rdfs:label nl Latent hypermetropia NOT_TRANSLATED +en Latent myopia HP:0500066 rdfs:label nl Latent myopia NOT_TRANSLATED +en Later than normal development of the breasts HP:0025515 IAO:0000115 nl Later than normal development of the breasts NOT_TRANSLATED +en Lateral HP:0025275 rdfs:label nl Lateraal CANDIDATE +en Lateral canthal tendon laxity HP:0032030 rdfs:label nl Lateral canthal tendon laxity NOT_TRANSLATED +en Lateral clavicle hook HP:0000895 rdfs:label nl Laterale sleutelbeen haak CANDIDATE +en Lateral deviation of the great toe (i.e., in the direction of the little toe) HP:0001822 IAO:0000115 nl Lateral deviation of the great toe (i.e., in the direction of the little toe) NOT_TRANSLATED +en Lateral displacement of patellae HP:0006397 rdfs:label nl Laterale verplaatsing van de patellae CANDIDATE +en Lateral displacement of the femoral head HP:0006453 rdfs:label nl Laterale verplaatsing van de femurkop CANDIDATE +en Lateral femoral bowing HP:0005090 rdfs:label nl Bowing van laterale femur CANDIDATE +en Lateral humeral condyle aplasia HP:0006441 rdfs:label nl Laterale humeruscondyl aplasie CANDIDATE +en Lateral rectus muscle overaction HP:0031752 rdfs:label nl Musculus rectus lateralis bulbi overbelasting CANDIDATE +en Lateral rectus muscle restriction HP:0031758 rdfs:label nl Musculus rectus lateralis bulbi spierbeperking CANDIDATE +en Lateral rectus muscle underaction HP:0031751 rdfs:label nl Musculus rectus lateralis bulbi onderbelasting CANDIDATE +en Lateral rectus muscle weakness HP:0031750 rdfs:label nl Musculus rectus lateralis bulbi spierzwakte CANDIDATE +en Lateral spinal meningocele HP:0032478 rdfs:label nl Lateral spinal meningocele NOT_TRANSLATED +en Lateral venous anomaly HP:0100885 rdfs:label nl Laterale veneuze afwijking CANDIDATE +en Lateral ventricle dilatation HP:0006956 rdfs:label nl Dilatatie van laterale ventrikels CANDIDATE +en Lateral ventricular asymmetry HP:0100960 rdfs:label nl Asymmetrische ventrikels CANDIDATE +en Laterality HP:0012831 rdfs:label nl Lateralisatie CANDIDATE +en Laterally curved eyebrow HP:0007733 rdfs:label nl Lateraal gebogen wenkbrauw CANDIDATE +en Laterally deficient tibial plateaux HP:0003833 rdfs:label nl Laterally deficient tibial plateaux NOT_TRANSLATED +en Laterally extended eyebrow HP:0011230 rdfs:label nl Lateraal verlengde wenkbrauw CANDIDATE +en Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura) HP:0000378 IAO:0000115 nl Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura) NOT_TRANSLATED +en Laterally sloping humeral metaphysis HP:0003921 rdfs:label nl Lateraal aflopende metafyse van de humerus CANDIDATE +en Latex allergy HP:0500094 rdfs:label nl Latex allergy NOT_TRANSLATED +en Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis HP:0500094 IAO:0000115 nl Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis NOT_TRANSLATED +en Lattice corneal dystrophy HP:0001149 rdfs:label nl Lattice corneadystrofie CANDIDATE +en Lattice retinal degeneration HP:0007992 rdfs:label nl Lattice retinale degeneratie CANDIDATE +en Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed HP:0032030 IAO:0000115 nl Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed NOT_TRANSLATED +en Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally HP:0032031 IAO:0000115 nl Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally NOT_TRANSLATED +en Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus HP:0033239 IAO:0000115 nl Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus NOT_TRANSLATED +en Leakage of dye on fundus fluorescein angiography HP:0025320 rdfs:label nl Lekage van kleurstof op fundus fluoresceïne-angiografie CANDIDATE +en Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins HP:0025320 IAO:0000115 nl Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins NOT_TRANSLATED +en Leber optic atrophy HP:0001112 rdfs:label nl Lebers opticusatrofie CANDIDATE +en Left HP:0012835 rdfs:label nl Links CANDIDATE +en Left Isomerism HP:0031854 rdfs:label nl Left Isomerism NOT_TRANSLATED +en Left anterior fascicular block HP:0011711 rdfs:label nl Linker anterior fasciculair blok CANDIDATE +en Left aortic arch with cervical origin of the right subclavian artery HP:0011591 rdfs:label nl Linker aortaboog met cervicale oorsprong van de rechter arteria subclavia CANDIDATE +en Left aortic arch with isolated subclavian artery HP:0011592 rdfs:label nl Linker aortaboog met geïsoleerde arteria subclavia CANDIDATE +en Left aortic arch with retroesophageal diverticulum of Kommerell HP:0011593 rdfs:label nl Linker aortaboog met retro-oesofageaal divertikel van Kommerell CANDIDATE +en Left aortic arch with retroesophageal right subclavian artery HP:0011595 rdfs:label nl Linker aortaboog met retro-oesofageale rechter arteria subclavia CANDIDATE +en Left aortic arch with right descending aorta and right ductus arteriosus HP:0011596 rdfs:label nl Linker aortaboog met rechts descenderende aorta en rechter ductus arteriosus CANDIDATE +en Left atrial enlargement HP:0031295 rdfs:label nl Vergroting van linker atrium CANDIDATE +en Left atrial fibrosis HP:6000691 rdfs:label nl Linker atriumfibrose OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Left atrial isomerism HP:0011537 rdfs:label nl Linker atrium isomerisme CANDIDATE +en Left axis deviation HP:0033568 rdfs:label nl Left axis deviation NOT_TRANSLATED +en Left bundle branch block HP:0011713 rdfs:label nl Linkerbundeltakblok CANDIDATE +en Left hemiplegia HP:0040292 rdfs:label nl Linker hemiplegie CANDIDATE +en Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve HP:0011638 IAO:0000115 nl Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve NOT_TRANSLATED +en Left posterior fascicular block HP:0005172 rdfs:label nl Linker posterior fasciculair blok CANDIDATE +en Left superior vena cava draining directly to the left atrium HP:0011669 rdfs:label nl Linker vena cava superior drainerend direct op het linker atrium CANDIDATE +en Left superior vena cava draining to coronary sinus HP:0011670 rdfs:label nl Linker vena cava superior drainerend direct de sinus coronarius CANDIDATE +en Left unicoronal synostosis HP:0011316 rdfs:label nl Linker unicoronale synostose CANDIDATE +en Left unilambdoid synostosis HP:0011321 rdfs:label nl Left unilambdoid synostosis NOT_TRANSLATED +en Left ventricular diastolic dysfunction HP:0025168 rdfs:label nl Linker ventriculaire diastolische dysfunctie CANDIDATE +en Left ventricular dilatation HP:4000141 rdfs:label nl Left ventricular dilatation NOT_TRANSLATED +en Left ventricular hypertrophy HP:0001712 rdfs:label nl Linker ventrikelhypertrofie CANDIDATE +en Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates HP:0011664 IAO:0000115 nl Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates NOT_TRANSLATED +en Left ventricular noncompaction HP:0030682 rdfs:label nl Left ventricular noncompaction NOT_TRANSLATED +en Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer HP:0030682 IAO:0000115 nl Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer NOT_TRANSLATED +en Left ventricular noncompaction cardiomyopathy HP:0011664 rdfs:label nl Linker ventrikel non-compactie cardiomyopathie CANDIDATE +en Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle HP:0032092 IAO:0000115 nl Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle NOT_TRANSLATED +en Left ventricular outflow tract obstruction HP:0032092 rdfs:label nl Left ventricular outflow tract obstruction NOT_TRANSLATED +en Left ventricular systolic dysfunction HP:0025169 rdfs:label nl Linker ventriculaire systolische dysfunctie CANDIDATE +en Left-to-right shunt HP:0012382 rdfs:label nl Links naar rechts shunt CANDIDATE +en Leg dystonia HP:0031959 rdfs:label nl Leg dystonia NOT_TRANSLATED +en Leg muscle stiffness HP:0008969 rdfs:label nl Been spierstijfheid CANDIDATE +en Leg shortening because of underdevelopment of one or more bones of the lower extremity HP:0009816 IAO:0000115 nl Leg shortening because of underdevelopment of one or more bones of the lower extremity NOT_TRANSLATED +en Leiomyosarcoma HP:0100243 rdfs:label nl Leiomyosarcoom CANDIDATE +en Lemon sign HP:0032269 rdfs:label nl Lemon sign NOT_TRANSLATED +en Length of penis more than 2 SD below the mean for age accompanied by hypospadias HP:0030260 IAO:0000115 nl Length of penis more than 2 SD below the mean for age accompanied by hypospadias NOT_TRANSLATED +en Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques HP:0025707 IAO:0000115 nl Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques NOT_TRANSLATED +en Length of the thumb is greater than normal HP:0032524 IAO:0000115 nl Length of the thumb is greater than normal NOT_TRANSLATED +en Lens coloboma HP:0100719 rdfs:label nl Lens coloboom CANDIDATE +en Lens luxation HP:0012019 rdfs:label nl Lens luxatie CANDIDATE +en Lens of the eye is smaller than normal and spherically shaped HP:0030961 IAO:0000115 nl Lens of the eye is smaller than normal and spherically shaped NOT_TRANSLATED +en Lens subluxation HP:0001132 rdfs:label nl Subluxatie van de lens CANDIDATE +en Lenticonus HP:0001142 rdfs:label nl Lenticonus CANDIDATE +en Lenticular astigmatism HP:0031791 rdfs:label nl Lenticular astigmatism NOT_TRANSLATED +en Lentiglobus HP:0011527 rdfs:label nl Lentiglobus CANDIDATE +en Lentigo maligna melanoma HP:0012059 rdfs:label nl Lentigo maligna melanoma CANDIDATE +en Leptomeningeal enhancement HP:0032070 rdfs:label nl Leptomeningeal enhancement NOT_TRANSLATED +en Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor HP:0040218 IAO:0000115 nl Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor NOT_TRANSLATED +en Lester's sign HP:0009781 rdfs:label nl Lester's sign NOT_TRANSLATED +en Lethal infantile mitochondrial myopathy HP:0009069 rdfs:label nl Lethale infantiele mitochondriale myopathie CANDIDATE +en Lethal short-limbed short stature HP:0008909 rdfs:label nl Lethale korte-ledemaat kleine lengte CANDIDATE +en Lethal short-trunk short stature HP:0011404 rdfs:label nl Lethale korte-romp kleine lengte CANDIDATE +en Lethal skeletal dysplasia HP:0005716 rdfs:label nl Lethale skelet dysplasie CANDIDATE +en Lethargy HP:0001254 rdfs:label nl Lethargie CANDIDATE +en Leucine crystalluria HP:0020075 rdfs:label nl Leucine crystalluria NOT_TRANSLATED +en Leucinuria HP:0032353 rdfs:label nl Leucinuria NOT_TRANSLATED +en Leukemia HP:0001909 rdfs:label nl Leukemie CANDIDATE +en Leukocoria HP:0000555 rdfs:label nl Leukocorie CANDIDATE +en Leukocyte cylindruria HP:0012616 rdfs:label nl Leukocyten cylindrurie CANDIDATE +en Leukocyte inclusion bodies HP:0040235 rdfs:label nl Leukocyt inclusielichaampjes CANDIDATE +en Leukocyte migration defect HP:0033797 rdfs:label nl Leukocyte migration defect NOT_TRANSLATED +en Leukocytosis HP:0001974 rdfs:label nl Leukocytose CANDIDATE +en Leukodystrophy HP:0002415 rdfs:label nl Leukodystrofie CANDIDATE +en Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies HP:0002415 IAO:0000115 nl Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies NOT_TRANSLATED +en Leukoencephalopathy HP:0002352 rdfs:label nl Leukencefalopathie CANDIDATE +en Leukoencephalopathy that gets more severe with time HP:0006980 IAO:0000115 nl Leukoencephalopathy that gets more severe with time NOT_TRANSLATED +en Leukonychia HP:0001820 rdfs:label nl Leukonychia CANDIDATE +en Leukopenia HP:0001882 rdfs:label nl Leukopenie CANDIDATE +en Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation HP:0005212 IAO:0000115 nl Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation NOT_TRANSLATED +en Leung cusp HP:0033778 rdfs:label nl Leung cusp NOT_TRANSLATED +en Levator palpebrae superioris atrophy HP:0012241 rdfs:label nl Musculus levator palpebrae superioris atrofie CANDIDATE +en Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) HP:0032139 IAO:0000115 nl Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person) NOT_TRANSLATED +en Levotransposition of the great arteries HP:0031349 rdfs:label nl Levo-transpositie van de grote slagaders CANDIDATE +en Lewy bodies HP:0100315 rdfs:label nl Lewy bodies CANDIDATE +en Leydig cell insensitivity to gonadotropin HP:0002929 rdfs:label nl Leydig cellen insensiviteit voor gonadotropine CANDIDATE +en Leydig cell neoplasia HP:0100618 rdfs:label nl Leydig cellen neoplasie CANDIDATE +en Lhermitte's sign HP:0032504 rdfs:label nl Lhermitte's sign NOT_TRANSLATED +en Libman-Sacks lesions HP:0011714 rdfs:label nl Libman-Sacks laesies CANDIDATE +en Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve HP:0011714 IAO:0000115 nl Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve NOT_TRANSLATED +en Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs HP:0032346 IAO:0000115 nl Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs NOT_TRANSLATED +en Lichenification HP:0100725 rdfs:label nl Lichenificatie CANDIDATE +en Lichenification affecting primarily flexural areas of the skin HP:0007453 IAO:0000115 nl Lichenification affecting primarily flexural areas of the skin NOT_TRANSLATED +en Lichenoid skin lesion HP:0031452 rdfs:label nl Lichenoïde huidlaesie CANDIDATE +en Lid lag on downgaze HP:0025605 rdfs:label nl Lid lag on downgaze NOT_TRANSLATED +en Light-chain paraproteinemia HP:0031048 rdfs:label nl Lichte-keten paraproteïnemie CANDIDATE +en Lightening or darkening of the lips from their usual coloring HP:0025118 IAO:0000115 nl Lightening or darkening of the lips from their usual coloring NOT_TRANSLATED +en Limb apraxia HP:0030217 rdfs:label nl Ledemaat apraxie CANDIDATE +en Limb ataxia HP:0002070 rdfs:label nl Limb ataxie CANDIDATE +en Limb duplication HP:0100524 rdfs:label nl Ledemaat duplicatie CANDIDATE +en Limb dysmetria HP:0002406 rdfs:label nl Ledematen dysmetrie CANDIDATE +en Limb dystonia HP:0002451 rdfs:label nl Ledematen dystonie CANDIDATE +en Limb fasciculations HP:0007289 rdfs:label nl Fasciculaties van de ledematen CANDIDATE +en Limb hypertonia HP:0002509 rdfs:label nl Hypertonie van de ledematen CANDIDATE +en Limb joint contracture HP:0003121 rdfs:label nl Ledemaat gewricht contractuur CANDIDATE +en Limb muscle weakness HP:0003690 rdfs:label nl Spierzwakte van de ledematen CANDIDATE +en Limb myoclonus HP:0045084 rdfs:label nl Ledemaat myoclonus CANDIDATE +en Limb pain HP:0009763 rdfs:label nl Ledemaat pijn CANDIDATE +en Limb shortening because of underdevelopment of one or more bones of the extremities HP:0009826 IAO:0000115 nl Limb shortening because of underdevelopment of one or more bones of the extremities NOT_TRANSLATED +en Limb tremor HP:0200085 rdfs:label nl Ledemaat tremor CANDIDATE +en Limb undergrowth HP:0009826 rdfs:label nl Ledemaat ondergroei CANDIDATE +en Limb-girdle muscle atrophy HP:0003797 rdfs:label nl Bekkengordel spieratrofie CANDIDATE +en Limb-girdle muscle weakness HP:0003325 rdfs:label nl Bekkengordel spierzwakte CANDIDATE +en Limb-girdle muscular dystrophy HP:0006785 rdfs:label nl Bekkengordel spierdystrofie CANDIDATE +en Limbal dermoid HP:0001140 rdfs:label nl Epibulbair dermoïd CANDIDATE +en Limbal edema HP:0025349 rdfs:label nl Limbus oedeem CANDIDATE +en Limbal stem cell deficiency HP:0032107 rdfs:label nl Limbal stem cell deficiency NOT_TRANSLATED +en Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea HP:0001119 IAO:0000115 nl Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea NOT_TRANSLATED +en Limitation in the ability to open the mouth HP:0000211 IAO:0000115 nl Limitation in the ability to open the mouth NOT_TRANSLATED +en Limitation of joint mobility HP:0001376 rdfs:label nl Beperking van de gewrichtsmobiliteit CANDIDATE +en Limitation of knee mobility HP:0010501 rdfs:label nl Beperking van de mobiliteit van de knie CANDIDATE +en Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement HP:0033333 IAO:0000115 nl Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement NOT_TRANSLATED +en Limitation of movement at ankles HP:0010505 rdfs:label nl Beperking van beweging van de enkels CANDIDATE +en Limitation of neck motion HP:0005986 rdfs:label nl Beperking van nekbeweging CANDIDATE +en Limitation of the ability to bend the toes HP:0008116 IAO:0000115 nl Limitation of the ability to bend the toes NOT_TRANSLATED +en Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward HP:0003093 IAO:0000115 nl Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward NOT_TRANSLATED +en Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures HP:0030233 IAO:0000115 nl Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures NOT_TRANSLATED +en Limited ability to straighten the arm at the elbow joint HP:0001377 IAO:0000115 nl Limited ability to straighten the arm at the elbow joint NOT_TRANSLATED +en Limited ankle dorsiflexion HP:0033526 rdfs:label nl Limited ankle dorsiflexion NOT_TRANSLATED +en Limited elbow extension HP:0001377 rdfs:label nl Beperkte elleboogextensie CANDIDATE +en Limited elbow extension and supination HP:0005852 rdfs:label nl Beperkte elleboogextensie en supinatie CANDIDATE +en Limited elbow flexion HP:0006376 rdfs:label nl Verminderde elleboogflexie CANDIDATE +en Limited elbow flexion/extension HP:0005060 rdfs:label nl Beperkte elleboog flexie/extensie CANDIDATE +en Limited elbow movement HP:0002996 rdfs:label nl Beperkte elleboogbeweging CANDIDATE +en Limited extraocular movements HP:0007941 rdfs:label nl Beperkte extra-oculaire bewegingen CANDIDATE +en Limited head rotation HP:0033357 rdfs:label nl Limited head rotation NOT_TRANSLATED +en Limited hip extension HP:0003093 rdfs:label nl Beperkte heup extensie CANDIDATE +en Limited hip movement HP:0008800 rdfs:label nl Beperkte heup beweging CANDIDATE +en Limited horizontal extraocular movement HP:0025720 rdfs:label nl Limited horizontal extraocular movement NOT_TRANSLATED +en Limited interphalangeal movement HP:0006064 rdfs:label nl Beperkte interfalangeale beweging CANDIDATE +en Limited knee extension HP:0003066 rdfs:label nl Beperkte knieextensie CANDIDATE +en Limited knee flexion HP:0006389 rdfs:label nl Beperkte knie flexie CANDIDATE +en Limited knee flexion/extension HP:0005085 rdfs:label nl Beperkte knie flexie/extensie CANDIDATE +en Limited lateral neck flexion HP:0033481 rdfs:label nl Limited lateral neck flexion NOT_TRANSLATED +en Limited mobility of proximal interphalangeal joint HP:0006217 rdfs:label nl Beperkte mobiliteit van proximale interfalangeale gewricht CANDIDATE +en Limited mobility of the eye to move from side to side (horizontally) within its socket HP:0025720 IAO:0000115 nl Limited mobility of the eye to move from side to side (horizontally) within its socket NOT_TRANSLATED +en Limited mobility of the eye to move up and down (vertically) within its socket HP:0025721 IAO:0000115 nl Limited mobility of the eye to move up and down (vertically) within its socket NOT_TRANSLATED +en Limited mobility of the eye within its socket HP:0007941 IAO:0000115 nl Limited mobility of the eye within its socket NOT_TRANSLATED +en Limited neck extension HP:0033453 rdfs:label nl Limited neck extension NOT_TRANSLATED +en Limited neck flexion HP:0005991 rdfs:label nl Beperkte nek flexie CANDIDATE +en Limited neck range of motion HP:0000466 rdfs:label nl Beperkt bewegingsbereik van nek CANDIDATE +en Limited pronation/supination of forearm HP:0006394 rdfs:label nl Vermindere pronatie/supinatie van onderarm CANDIDATE +en Limited shoulder abduction HP:0033475 rdfs:label nl Limited shoulder abduction NOT_TRANSLATED +en Limited shoulder flexion HP:0033482 rdfs:label nl Limited shoulder flexion NOT_TRANSLATED +en Limited shoulder movement HP:0006467 rdfs:label nl Beperkte schouder beweging CANDIDATE +en Limited vertical extraocular movement HP:0025721 rdfs:label nl Limited vertical extraocular movement NOT_TRANSLATED +en Limited wrist extension HP:0006251 rdfs:label nl Beperkte pols extensie CANDIDATE +en Limited wrist movement HP:0006248 rdfs:label nl Beperkte pols beweging CANDIDATE +en Linear C3 deposits along the epidermal basement membrane zone HP:0031541 rdfs:label nl Linear C3 deposits along the epidermal basement membrane zone NOT_TRANSLATED +en Linear IgA deposits along the epidermal basement membrane zone HP:0031539 rdfs:label nl Linear IgA deposits along the epidermal basement membrane zone NOT_TRANSLATED +en Linear IgG deposits along the epidermal basement membrane zone HP:0031540 rdfs:label nl Linear IgG deposits along the epidermal basement membrane zone NOT_TRANSLATED +en Linear arrays of macular hyperkeratoses in flexural areas HP:0007490 rdfs:label nl Linear arrays of macular hyperkeratoses in flexural areas NOT_TRANSLATED +en Linear atelectasis HP:0033657 rdfs:label nl Linear atelectasis NOT_TRANSLATED +en Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm HP:0033657 IAO:0000115 nl Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm NOT_TRANSLATED +en Linear earlobe crease HP:0031510 rdfs:label nl Lineaire oorlel plooi CANDIDATE +en Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma HP:0032396 IAO:0000115 nl Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma NOT_TRANSLATED +en Linear hyperpigmentation HP:0007546 rdfs:label nl Lineaire hyperpigmentatie CANDIDATE +en Linear nevus sebaceous HP:0010817 rdfs:label nl Lineaire naevus sebaceous CANDIDATE +en Linear vertical groove in the midline of the forehead, extending from hairline to glabella HP:0011223 IAO:0000115 nl Linear vertical groove in the midline of the forehead, extending from hairline to glabella NOT_TRANSLATED +en Linear, circumferential indentation in the convexity of the outer surface of the helix HP:0011262 IAO:0000115 nl Linear, circumferential indentation in the convexity of the outer surface of the helix NOT_TRANSLATED +en Lingual dystonia HP:0031008 rdfs:label nl Linguale dystonie CANDIDATE +en Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth HP:0033792 IAO:0000115 nl Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth NOT_TRANSLATED +en Lingual thyroid HP:0100029 rdfs:label nl Linguale schildklier CANDIDATE +en Lip cyanosis HP:0034030 rdfs:label nl Lip cyanosis NOT_TRANSLATED +en Lip discoloration HP:0025118 rdfs:label nl Verkleuring van de lip CANDIDATE +en Lip fissure HP:0031250 rdfs:label nl Lip fissuur CANDIDATE +en Lip freckle HP:0010798 rdfs:label nl Lip sproet CANDIDATE +en Lip hyperpigmentation HP:0100816 rdfs:label nl Lip hyperpigmentatie CANDIDATE +en Lip pit HP:0100267 rdfs:label nl Lip pit CANDIDATE +en Lip telangiectasia HP:0000214 rdfs:label nl Lip teleangiëctasie CANDIDATE +en Lip tremor HP:0032006 rdfs:label nl Lip tremor NOT_TRANSLATED +en Lipedema HP:0100695 rdfs:label nl Lipoedeem CANDIDATE +en Lipemia retinalis HP:0000660 rdfs:label nl Lipemia retinalis CANDIDATE +en Lipid accumulation in hepatocytes HP:0006561 rdfs:label nl Lipide accumulatie in hepatocyten CANDIDATE +en Lipid-laden macrophages in bronchoalveolar fluid HP:0032978 rdfs:label nl Lipid-laden macrophages in bronchoalveolar fluid NOT_TRANSLATED +en Lipiduria HP:0032567 rdfs:label nl Lipiduria NOT_TRANSLATED +en Lipoatrophy HP:0100578 rdfs:label nl Lipoatrophie CANDIDATE +en Lipodystrophy HP:0009125 rdfs:label nl Lipodystrofie CANDIDATE +en Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient HP:0011813 IAO:0000115 nl Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient NOT_TRANSLATED +en Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient HP:0003463 IAO:0000115 nl Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient NOT_TRANSLATED +en Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient HP:0002074 IAO:0000115 nl Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient NOT_TRANSLATED +en Lipogranulomatosis HP:0040139 rdfs:label nl Lipogranulomatose CANDIDATE +en Lipoid pneumonia HP:0033364 rdfs:label nl Lipoid pneumonia NOT_TRANSLATED +en Lipoma HP:0012032 rdfs:label nl Lipoom CANDIDATE +en Lipoma of the tongue HP:0030815 rdfs:label nl Lipoom van de tong CANDIDATE +en Lipomas of eyelids HP:0040164 rdfs:label nl Lipomen van bovenste oogleden CANDIDATE +en Lipomatous tumor HP:0012031 rdfs:label nl Lipomateuze tumor CANDIDATE +en Lipomeningocele HP:0030710 rdfs:label nl Lipomeningocele CANDIDATE +en Lipomyelomeningocele HP:0025480 rdfs:label nl Lipomyelomeningocele CANDIDATE +en Liposarcoma HP:0012034 rdfs:label nl Liposarcoom CANDIDATE +en Lisch nodules HP:0009737 rdfs:label nl Lisch noduli CANDIDATE +en Lissencephaly HP:0001339 rdfs:label nl Lissencefalie CANDIDATE +en Lithoptysis HP:0032543 rdfs:label nl Lithoptysis NOT_TRANSLATED +en Livedo HP:0033832 rdfs:label nl Livedo NOT_TRANSLATED +en Livedo racemosa HP:0033260 rdfs:label nl Livedo racemosa NOT_TRANSLATED +en Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming HP:0033260 IAO:0000115 nl Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming NOT_TRANSLATED +en Livedo reticularis HP:0033505 rdfs:label nl Livedo reticularis NOT_TRANSLATED +en Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension HP:0033505 IAO:0000115 nl Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension NOT_TRANSLATED +en Liver abscess HP:0100523 rdfs:label nl Lever abces CANDIDATE +en Liver hamartoma HP:0034514 rdfs:label nl Liver hamartoma NOT_TRANSLATED +en Liver kidney microsome type 1 antibody positivity HP:0030908 rdfs:label nl Lever/nier microsoom type 1 antistoffen positiviteit CANDIDATE +en Liver leiomyoma HP:4000154 rdfs:label nl Liver leiomyoma NOT_TRANSLATED +en Liver mast cell infiltration HP:0031824 IAO:0000115 nl Liver mast cell infiltration NOT_TRANSLATED +en Lobar holoprosencephaly HP:0006870 rdfs:label nl Lobaire holoprosencefalie CANDIDATE +en Lobular carcinoma in situ HP:0030076 rdfs:label nl Lobulair carcinoma in situ CANDIDATE +en Lobular glomerulopathy HP:0008636 rdfs:label nl Lobulaire glomerulopathie CANDIDATE +en Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei HP:0033549 IAO:0000115 nl Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei NOT_TRANSLATED +en Lobulated tongue HP:0000180 rdfs:label nl Gelobde tong CANDIDATE +en Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination HP:0020086 IAO:0000115 nl Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination NOT_TRANSLATED +en Localized HP:0012838 rdfs:label nl Gelokaliseerd CANDIDATE +en Localized area of pendulous skin HP:0025182 rdfs:label nl Gelokaliseerd gebied van hangende huid CANDIDATE +en Localized away from the central point of the body HP:0012839 IAO:0000115 nl Localized away from the central point of the body NOT_TRANSLATED +en Localized close to the central point of the body HP:0012840 IAO:0000115 nl Localized close to the central point of the body NOT_TRANSLATED +en Localized epidermolytic hyperkeratosis HP:0007559 rdfs:label nl Gelokaliseerde epidermolytische hyperkeratose CANDIDATE +en Localized fluid retention and tissue swelling caused by a compromised lymphatic system HP:0001004 IAO:0000115 nl Localized fluid retention and tissue swelling caused by a compromised lymphatic system NOT_TRANSLATED +en Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs HP:0003550 IAO:0000115 nl Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs NOT_TRANSLATED +en Localized hirsutism HP:0009889 rdfs:label nl Gelokaliseerde hirsutisme CANDIDATE +en Localized hypoplasia of dental enamel HP:0011074 rdfs:label nl Gelokaliseerde hypoplasie van het glazuur van de tand CANDIDATE +en Localized loss of fat tissue HP:0100578 IAO:0000115 nl Localized loss of fat tissue NOT_TRANSLATED +en Localized neuroblastoma HP:0006768 rdfs:label nl Gelokaliseerde neuroblastoom CANDIDATE +en Localized or generalized decreased genital pigmentation HP:0030259 IAO:0000115 nl Localized or generalized decreased genital pigmentation NOT_TRANSLATED +en Localized or generalized increased genital pigmentation HP:0030258 IAO:0000115 nl Localized or generalized increased genital pigmentation NOT_TRANSLATED +en Localized osteoporosis HP:0040161 rdfs:label nl Gelokaliseerde osteoporose CANDIDATE +en Localized periodontitis HP:0011059 rdfs:label nl Gelokaliseerde parodontitis CANDIDATE +en Localized pulmonary hemorrhage HP:0032990 rdfs:label nl Localized pulmonary hemorrhage NOT_TRANSLATED +en Localized skin lesion HP:0011355 rdfs:label nl Gelokaliseerde huid lesie CANDIDATE +en Localized thickening and tightness of the skin of the fingers or toes HP:0011838 IAO:0000115 nl Localized thickening and tightness of the skin of the fingers or toes NOT_TRANSLATED +en Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease HP:0033577 IAO:0000115 nl Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease NOT_TRANSLATED +en Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs HP:0033816 IAO:0000115 nl Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs NOT_TRANSLATED +en Location of the urethral opening on the inferior aspect of the penis HP:0003244 IAO:0000115 nl Location of the urethral opening on the inferior aspect of the penis NOT_TRANSLATED +en Loculated ascites HP:0025673 rdfs:label nl Loculated ascites NOT_TRANSLATED +en Long clavicles HP:0000890 rdfs:label nl Lange sleutelbeenderen CANDIDATE +en Long coccyx HP:0002831 rdfs:label nl Lang coccyx CANDIDATE +en Long distal phalanx of finger HP:0012299 rdfs:label nl Lange distale falanx van de vinger CANDIDATE +en Long ear HP:0400004 rdfs:label nl Lang oor CANDIDATE +en Long eyebrows HP:0004523 rdfs:label nl Lange wenkbrauwen CANDIDATE +en Long eyelashes HP:0000527 rdfs:label nl Lange wimpers CANDIDATE +en Long eyelashes in irregular rows HP:0007740 rdfs:label nl Lange wimpers in onregelmatige rijen CANDIDATE +en Long face HP:0000276 rdfs:label nl Lang gelaat CANDIDATE +en Long fibula HP:0003085 rdfs:label nl Lang fibula CANDIDATE +en Long fingers HP:0100807 rdfs:label nl Lange vingers CANDIDATE +en Long foot HP:0001833 rdfs:label nl Lange voet CANDIDATE +en Long hairs growing from helix of pinna HP:0008528 rdfs:label nl Long hairs growing from helix of pinna NOT_TRANSLATED +en Long hallux HP:0001847 rdfs:label nl Lange hallux CANDIDATE +en Long lower eyelashes HP:0040053 rdfs:label nl Lange onderste wimpers CANDIDATE +en Long metacarpals HP:0010493 rdfs:label nl Lange metacarpalen CANDIDATE +en Long middle phalanx of finger HP:0012298 rdfs:label nl Lange middelste falanx van vinger CANDIDATE +en Long nasal bridge HP:0033142 rdfs:label nl Long nasal bridge NOT_TRANSLATED +en Long neck HP:0000472 rdfs:label nl Lange nek CANDIDATE +en Long nose HP:0003189 rdfs:label nl Lange neus CANDIDATE +en Long palm HP:0011302 rdfs:label nl Lange palm CANDIDATE +en Long palpebral fissure HP:0000637 rdfs:label nl Lange oogspleet CANDIDATE +en Long penis HP:0000040 rdfs:label nl Lange penis CANDIDATE +en Long phalanx of finger HP:0006155 rdfs:label nl Lang falanx van vinger CANDIDATE +en Long philtrum HP:0000343 rdfs:label nl Lang filtrum CANDIDATE +en Long proximal phalanx of finger HP:0006127 rdfs:label nl Lange proximale falanx van vinger CANDIDATE +en Long second metacarpal HP:0006040 rdfs:label nl Lange tweede metacarpaal CANDIDATE +en Long segment coarctation of the aorta HP:0031054 rdfs:label nl Long segment coarctation of the aorta NOT_TRANSLATED +en Long styloid process of ulna HP:0004036 rdfs:label nl Lang processus styloideus ulnae CANDIDATE +en Long term memory impairment HP:0033688 rdfs:label nl Long term memory impairment NOT_TRANSLATED +en Long thorax HP:0100818 rdfs:label nl Lange thorax CANDIDATE +en Long thumb HP:0032524 rdfs:label nl Long thumb NOT_TRANSLATED +en Long toe HP:0010511 rdfs:label nl Lange teen CANDIDATE +en Long ulna HP:0003988 rdfs:label nl Lange ulna CANDIDATE +en Long umbilical cord HP:0011417 rdfs:label nl Lange navelstreng CANDIDATE +en Long upper eyelashes HP:0007840 rdfs:label nl Lange bovenste wimpers CANDIDATE +en Long upper lip HP:0011341 rdfs:label nl Lange bovenlip CANDIDATE +en Long uvula HP:0010810 rdfs:label nl Lange uvula CANDIDATE +en Long-chain dicarboxylic aciduria HP:0008293 rdfs:label nl Lange-keten dicarboxylische acidurie CANDIDATE +en Long-segment aganglionic megacolon HP:0011285 rdfs:label nl Lang-segment agangliotisch megacolon CANDIDATE +en Long-tract signs HP:0002423 rdfs:label nl Lange baan tekenen CANDIDATE +en Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions HP:0002423 IAO:0000115 nl Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions NOT_TRANSLATED +en Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex HP:0032411 IAO:0000115 nl Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex NOT_TRANSLATED +en Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain HP:0032413 IAO:0000115 nl Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain NOT_TRANSLATED +en Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes HP:0032412 IAO:0000115 nl Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes NOT_TRANSLATED +en Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis) HP:0031367 IAO:0000115 nl Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis) NOT_TRANSLATED +en Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus) HP:0031858 IAO:0000115 nl Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus) NOT_TRANSLATED +en Longitudinal vaginal septum HP:0008740 rdfs:label nl Longitudinaal vaginaal septum CANDIDATE +en Longitudinal, linear prominences in the fingernail plate HP:0008402 IAO:0000115 nl Longitudinal, linear prominences in the fingernail plate NOT_TRANSLATED +en Longitudinal, linear prominences in the nail plate HP:0001807 IAO:0000115 nl Longitudinal, linear prominences in the nail plate NOT_TRANSLATED +en Longstanding abnormal acid accumulation or depletion of base HP:0012468 IAO:0000115 nl Longstanding abnormal acid accumulation or depletion of base NOT_TRANSLATED +en Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L) HP:0012466 IAO:0000115 nl Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L) NOT_TRANSLATED +en Longstanding metabolic acidosis HP:0001996 IAO:0000115 nl Longstanding metabolic acidosis NOT_TRANSLATED +en Loose anagen hair HP:0040169 rdfs:label nl Loose anagen hair CANDIDATE +en Loose and sagging skin of the fingers HP:0007516 IAO:0000115 nl Loose and sagging skin of the fingers NOT_TRANSLATED +en Loose and sagging skin often associated with loss of skin elasticity HP:0001582 IAO:0000115 nl Loose and sagging skin often associated with loss of skin elasticity NOT_TRANSLATED +en Loose, wrinkled skin of hands and feet HP:0007517 IAO:0000115 nl Loose, wrinkled skin of hands and feet NOT_TRANSLATED +en Lop ear HP:0000394 rdfs:label nl Hangoor CANDIDATE +en Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg HP:0003635 IAO:0000115 nl Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg NOT_TRANSLATED +en Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region HP:0009017 IAO:0000115 nl Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region NOT_TRANSLATED +en Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk HP:0009002 IAO:0000115 nl Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk NOT_TRANSLATED +en Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers HP:0032083 IAO:0000115 nl Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers NOT_TRANSLATED +en Loss of Purkinje cells in the cerebellar vermis HP:0007001 rdfs:label nl Verlies van Purkinje cellen in de vermis CANDIDATE +en Loss of ability to walk in early childhood HP:0008945 rdfs:label nl Verlies van vermogen om te lopen in de vroege kindertijd CANDIDATE +en Loss of ability to walk in first decade HP:0006794 rdfs:label nl Verlies van vermogen om te lopen in eerste decade CANDIDATE +en Loss of all hair on the entire body HP:0002289 IAO:0000115 nl Loss of all hair on the entire body NOT_TRANSLATED +en Loss of all scalp hair HP:0007418 IAO:0000115 nl Loss of all scalp hair NOT_TRANSLATED +en Loss of all scalp hair with congenital onset HP:0005597 IAO:0000115 nl Loss of all scalp hair with congenital onset NOT_TRANSLATED +en Loss of ambulation HP:0002505 rdfs:label nl Progressieef onvermogen om te lopen CANDIDATE +en Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone HP:0003106 IAO:0000115 nl Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone NOT_TRANSLATED +en Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones HP:0034332 IAO:0000115 nl Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones NOT_TRANSLATED +en Loss of consciousness HP:0007185 rdfs:label nl Verlies van bewustzijn CANDIDATE +en Loss of developmental skills, as manifested by loss of developmental milestones HP:0002376 IAO:0000115 nl Loss of developmental skills, as manifested by loss of developmental milestones NOT_TRANSLATED +en Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge HP:0010750 IAO:0000115 nl Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge NOT_TRANSLATED +en Loss of eyelashes HP:0011457 rdfs:label nl Verlies van wimpers CANDIDATE +en Loss of facial adipose tissue HP:0000292 rdfs:label nl Verlies van vetweefsel van het gelaat CANDIDATE +en Loss of facial expression HP:0005327 rdfs:label nl Verlies van faciale expressie CANDIDATE +en Loss of glomerular endothelial cell fenestration HP:0033273 rdfs:label nl Loss of glomerular endothelial cell fenestration NOT_TRANSLATED +en Loss of gluteal subcutaneous adipose tissue HP:0009017 rdfs:label nl Verlies van gluteus subcutaan vetweefsel CANDIDATE +en Loss of hair in the occipital region of the scalp with congenital onset HP:0007534 IAO:0000115 nl Loss of hair in the occipital region of the scalp with congenital onset NOT_TRANSLATED +en Loss of iris tissue (atrophy) HP:0001089 IAO:0000115 nl Loss of iris tissue (atrophy) NOT_TRANSLATED +en Loss of mesangial cells segmentally or globally HP:0033320 IAO:0000115 nl Loss of mesangial cells segmentally or globally NOT_TRANSLATED +en Loss of myelin from peripheral nerves in a pattern that differs between right and left HP:0030176 IAO:0000115 nl Loss of myelin from peripheral nerves in a pattern that differs between right and left NOT_TRANSLATED +en Loss of normal subcutaneous fat tissue in the face HP:0000292 IAO:0000115 nl Loss of normal subcutaneous fat tissue in the face NOT_TRANSLATED +en Loss of one twin occurring after midgestation (17 weeks gestation) HP:0030753 IAO:0000115 nl Loss of one twin occurring after midgestation (17 weeks gestation) NOT_TRANSLATED +en Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision HP:0007994 IAO:0000115 nl Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision NOT_TRANSLATED +en Loss of pigment in the fovea centralis HP:0500088 IAO:0000115 nl Loss of pigment in the fovea centralis NOT_TRANSLATED +en Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones HP:0033044 IAO:0000115 nl Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones NOT_TRANSLATED +en Loss of previously present mental abilities, generally in adults HP:0001268 IAO:0000115 nl Loss of previously present mental abilities, generally in adults NOT_TRANSLATED +en Loss of previously present mental and motor abilities HP:0002361 IAO:0000115 nl Loss of previously present mental and motor abilities NOT_TRANSLATED +en Loss of previously present motor (i.e., movement) abilities HP:0002333 IAO:0000115 nl Loss of previously present motor (i.e., movement) abilities NOT_TRANSLATED +en Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm HP:0033273 IAO:0000115 nl Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm NOT_TRANSLATED +en Loss of scalp hair at an earlier than normal age HP:0002234 IAO:0000115 nl Loss of scalp hair at an earlier than normal age NOT_TRANSLATED +en Loss of sections of skin either spontaneously or after gentle handling HP:0032156 IAO:0000115 nl Loss of sections of skin either spontaneously or after gentle handling NOT_TRANSLATED +en Loss of speech HP:0002371 rdfs:label nl Velies van spraak CANDIDATE +en Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength HP:0030182 IAO:0000115 nl Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength NOT_TRANSLATED +en Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength HP:0001269 IAO:0000115 nl Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength NOT_TRANSLATED +en Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength HP:0004374 IAO:0000115 nl Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength NOT_TRANSLATED +en Loss of subcutaneous adipose tissue from upper limbs HP:0009056 rdfs:label nl Verlies van subcutaan vetweefsel in bovenste extremiteiten CANDIDATE +en Loss of subcutaneous adipose tissue in limbs HP:0003635 rdfs:label nl Verlies van subcutaan vetweefsel in ledematen CANDIDATE +en Loss of the ability to control the urinary bladder leading to involuntary urination HP:0000020 IAO:0000115 nl Loss of the ability to control the urinary bladder leading to involuntary urination NOT_TRANSLATED +en Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips HP:0025525 IAO:0000115 nl Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips NOT_TRANSLATED +en Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot HP:0025524 IAO:0000115 nl Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot NOT_TRANSLATED +en Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography HP:0030609 IAO:0000115 nl Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography NOT_TRANSLATED +en Loss of the primary (also known as deciduous) teeth before the usual age HP:0006323 IAO:0000115 nl Loss of the primary (also known as deciduous) teeth before the usual age NOT_TRANSLATED +en Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion HP:0031446 IAO:0000115 nl Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion NOT_TRANSLATED +en Loss of truncal subcutaneous adipose tissue HP:0009002 rdfs:label nl Verlies van truncaal subcutaan vetweefsel CANDIDATE +en Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that) HP:0000572 IAO:0000115 nl Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that) NOT_TRANSLATED +en Loss of voice HP:0001686 rdfs:label nl Stemverlies CANDIDATE +en Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect HP:0011791 IAO:0000115 nl Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect NOT_TRANSLATED +en Loud first heart sound HP:0031660 rdfs:label nl Luide eerste harttoon CANDIDATE +en Loud snoring HP:0025372 rdfs:label nl Luid snurken CANDIDATE +en Low 1-minute APGAR score HP:0030918 rdfs:label nl Lage 1-minuut APGAR score CANDIDATE +en Low 10-minute APGAR score HP:0033467 rdfs:label nl Low 10-minute APGAR score NOT_TRANSLATED +en Low 5-minute APGAR score HP:0030919 rdfs:label nl Lage 5-minuut APGAR score CANDIDATE +en Low APGAR score HP:0030917 rdfs:label nl Lage APGAR score CANDIDATE +en Low Blood Pressure, vascular hypotension HP:0002615 IAO:0000115 nl Low Blood Pressure, vascular hypotension NOT_TRANSLATED +en Low alkaline phosphatase HP:0003282 rdfs:label nl Laag alkalisch fosfatase CANDIDATE +en Low alkaline phosphatase of bone origin HP:0010684 rdfs:label nl Laag alkalisch fosfatase oorspronkelijk van bot CANDIDATE +en Low alkaline phosphatase of hepatic origin HP:0010686 rdfs:label nl Laag alkalisch fosfatase van hepatische oorsprong CANDIDATE +en Low alkaline phosphatase of renal origin HP:0010685 rdfs:label nl Laag alkalisch fosfatase van renale oorsprong CANDIDATE +en Low anterior hairline HP:0000294 rdfs:label nl Lage voorste haarlijn CANDIDATE +en Low back pain HP:0003419 rdfs:label nl Lage rugpijn CANDIDATE +en Low blood glucose is accompanied by elevated levels of ketone bodies in the body HP:0012734 IAO:0000115 nl Low blood glucose is accompanied by elevated levels of ketone bodies in the body NOT_TRANSLATED +en Low cholesterol esterification rate HP:0003349 rdfs:label nl Lage mate van cholesterol verestering CANDIDATE +en Low femoral bone density HP:0031163 rdfs:label nl Lage femorale botdichtheid CANDIDATE +en Low frustration tolerance HP:0000744 rdfs:label nl Geringe frustratie-tolerantie CANDIDATE +en Low hanging columella HP:0009765 rdfs:label nl Laaghangende columella CANDIDATE +en Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery HP:0025716 IAO:0000115 nl Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery NOT_TRANSLATED +en Low insertion of columella HP:0010763 rdfs:label nl Lage insertie van columella CANDIDATE +en Low intestinal alkaline phosphatase HP:0010687 rdfs:label nl Verlaagd intestinaal alkalisch fosfatase CANDIDATE +en Low intraocular pressure HP:0032547 rdfs:label nl Low intraocular pressure NOT_TRANSLATED +en Low level of blood oxygen induced by changing from a recumbent to an upright position HP:0033367 IAO:0000115 nl Low level of blood oxygen induced by changing from a recumbent to an upright position NOT_TRANSLATED +en Low levels of vitamin A HP:0004905 rdfs:label nl Vitamine A-deficiëntie CANDIDATE +en Low levels of vitamin B1 HP:0100503 rdfs:label nl Vitamine B1 deficiëntie CANDIDATE +en Low levels of vitamin B2 HP:0100504 rdfs:label nl Vitamine B2 deficiëntie CANDIDATE +en Low levels of vitamin B5 HP:0100505 rdfs:label nl Vitamine B5 deficiëntie CANDIDATE +en Low levels of vitamin B8 HP:0100506 rdfs:label nl Vitamine B8 deficiëntie CANDIDATE +en Low levels of vitamin C HP:0100510 rdfs:label nl Vitamine C deficiëntie CANDIDATE +en Low levels of vitamin D HP:0100512 rdfs:label nl Vitamine D deficiëntie CANDIDATE +en Low levels of vitamin E HP:0100513 rdfs:label nl Vitamine E deficiëntie CANDIDATE +en Low levels of vitamin K HP:0011892 rdfs:label nl Vitamine K-deficiëntie CANDIDATE +en Low maternal circulating PAPP-A concentration HP:0011435 rdfs:label nl Laag maternaal serum PAPP-A CANDIDATE +en Low maternal circulating alpha-fetoprotein concentration HP:0010570 rdfs:label nl Laag maternaal serum alfafoetoproteïne CANDIDATE +en Low maternal circulating chorionic gonadotropin concentration HP:0011434 rdfs:label nl Laag maternaal serum choriongonadotrofine CANDIDATE +en Low maternal circulating estriol concentration HP:0008073 rdfs:label nl Laag maternaal serum estriol CANDIDATE +en Low neutrophil alkaline phosphatase HP:0041044 rdfs:label nl Low neutrophil alkaline phosphatase NOT_TRANSLATED +en Low output of urine, clinically classified as an output below 300-500ml/day HP:0100520 IAO:0000115 nl Low output of urine, clinically classified as an output below 300-500ml/day NOT_TRANSLATED +en Low placental alkaline phosphatase HP:0010688 rdfs:label nl Laag placenta alkalisch fosfatase CANDIDATE +en Low plasma citrulline HP:0003572 rdfs:label nl Verminderd plasma citrulline CANDIDATE +en Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime HP:0020171 IAO:0000115 nl Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime NOT_TRANSLATED +en Low platelet count associated with maternal platelet-specific alloantibodies HP:0004809 IAO:0000115 nl Low platelet count associated with maternal platelet-specific alloantibodies NOT_TRANSLATED +en Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin HP:0011874 IAO:0000115 nl Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin NOT_TRANSLATED +en Low posterior hairline HP:0002162 rdfs:label nl Lage achterste haarlijn CANDIDATE +en Low pulse pressure HP:0030851 rdfs:label nl Lage polsdruk CANDIDATE +en Low self esteem HP:0031469 rdfs:label nl Negatief zelfbeeld CANDIDATE +en Low serum calcitriol HP:0012052 rdfs:label nl Laag serum calcitriol CANDIDATE +en Low set, steeply sloping shoulders HP:0200021 IAO:0000115 nl Low set, steeply sloping shoulders NOT_TRANSLATED +en Low tissue non-specific alkaline phosphatase HP:0010683 rdfs:label nl Laag weefsel-aspecifiek alkalisch fosfatase CANDIDATE +en Low urinary cyclic AMP response to PTH administration HP:0003456 rdfs:label nl Lage urine cyclisch AMP reactie op PTH toedoening CANDIDATE +en Low voltage EEG HP:0011181 rdfs:label nl Laag-voltage EEG CANDIDATE +en Low-frequency hearing loss HP:0008542 rdfs:label nl Laag-frequentie gehoorverlies CANDIDATE +en Low-frequency sensorineural hearing impairment HP:0008573 rdfs:label nl Laag-frequente perceptieve slechthorendheid CANDIDATE +en Low-grade fever HP:0011134 rdfs:label nl Lichte koorts CANDIDATE +en Low-grade vesicoureteral reflux HP:0033733 rdfs:label nl Low-grade vesicoureteral reflux NOT_TRANSLATED +en Low-molecular-weight proteinuria HP:0003126 rdfs:label nl Laag-moleculair-gewicht proteinurie CANDIDATE +en Low-output congestive heart failure HP:0009805 rdfs:label nl Low-output congestief hartfalen CANDIDATE +en Low-set ears HP:0000369 rdfs:label nl Laag ingeplante oren CANDIDATE +en Low-set nipples HP:0002562 rdfs:label nl Laag ingeplante tepels CANDIDATE +en Low-set, posteriorly rotated ears HP:0000368 rdfs:label nl Laag ingeplante, naar achteren gedraaide oren CANDIDATE +en Low-to-normal blood pressure HP:0002632 rdfs:label nl Laag-tot-normale bloeddruk CANDIDATE +en Lower cranial nerve dysfunction HP:0410262 rdfs:label nl Lower cranial nerve dysfunction NOT_TRANSLATED +en Lower extremity akinesia HP:0033411 rdfs:label nl Lower extremity akinesia NOT_TRANSLATED +en Lower extremity hypokinesia HP:0033414 rdfs:label nl Lower extremity hypokinesia NOT_TRANSLATED +en Lower extremity joint dislocation HP:0030311 rdfs:label nl Onderste extremiteit gewrichts dislocatie CANDIDATE +en Lower extremity peripheral arterial calcification HP:0031302 rdfs:label nl Perifere arteriële calcificatie van onderste extremiteit CANDIDATE +en Lower extremity subcutanous fat hypertrophy HP:0031451 rdfs:label nl Onderste extremiteit subcutaan vet hypertrofie CANDIDATE +en Lower eyelid coloboma HP:0000652 rdfs:label nl Onderste ooglid coloboom CANDIDATE +en Lower eyelid edema HP:0012568 rdfs:label nl Onderste ooglid oedeem CANDIDATE +en Lower eyelid laxity HP:0032035 rdfs:label nl Lower eyelid laxity NOT_TRANSLATED +en Lower eyelid partly covered by skin when eyes are open HP:0030821 IAO:0000115 nl Lower eyelid partly covered by skin when eyes are open NOT_TRANSLATED +en Lower eyelid retraction HP:0030802 rdfs:label nl Onderste ooglid retractie CANDIDATE +en Lower limb amyotrophy HP:0007210 rdfs:label nl Amyotrofie van onderste ledemaat CANDIDATE +en Lower limb asymmetry HP:0100559 rdfs:label nl Asymmetrie van de onderste ledematen CANDIDATE +en Lower limb dysmetria HP:0020035 rdfs:label nl Onderste ledematen dysmetrie CANDIDATE +en Lower limb hyperreflexia HP:0002395 rdfs:label nl Onderste ledematen hyperreflexie CANDIDATE +en Lower limb hypertonia HP:0006895 rdfs:label nl Onderste ledematen hypertonie CANDIDATE +en Lower limb muscle weakness HP:0007340 rdfs:label nl Spierzwakte van onderste ledemaat CANDIDATE +en Lower limb pain HP:0012514 rdfs:label nl Pijn in onderste extremiteit CANDIDATE +en Lower limb peromelia HP:0009820 rdfs:label nl Onderste ledematen peromelie CANDIDATE +en Lower limb phocomelia HP:0009819 rdfs:label nl Onderste ledematen focomelie CANDIDATE +en Lower limb spasticity HP:0002061 rdfs:label nl Spasticiteit van de onderste ledematen CANDIDATE +en Lower limb undergrowth HP:0009816 rdfs:label nl Onderste ledemaat ondergroei CANDIDATE +en Lower lip pit HP:0000196 rdfs:label nl Onderlipfistel CANDIDATE +en Lower thoracic interpediculate narrowness HP:0008470 rdfs:label nl Lower thoracic interpediculate narrowness NOT_TRANSLATED +en Lower thoracic kyphosis HP:0004633 rdfs:label nl Lagere thoracle kyfose CANDIDATE +en Lower-body predominance HP:0025291 rdfs:label nl Overheersing van het onderlichaam CANDIDATE +en Lower-limb joint contracture HP:0005750 rdfs:label nl Contracturen van de gewrichten van de onderste ledematen CANDIDATE +en Lower-limb metaphyseal irregularity HP:0030291 rdfs:label nl Onregelmatigheid van metafyse van onderste ledemaat CANDIDATE +en Lozenge-shaped umbilicus HP:0032277 rdfs:label nl Lozenge-shaped umbilicus NOT_TRANSLATED +en Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits HP:0033287 IAO:0000115 nl Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits NOT_TRANSLATED +en Lumbar hemivertebrae HP:0008439 rdfs:label nl Lumbale hemivertebrae CANDIDATE +en Lumbar hyperlordosis HP:0002938 rdfs:label nl Lumbale hyperlordose CANDIDATE +en Lumbar hypertrichosis HP:0011913 rdfs:label nl Lumbale hypertrichose CANDIDATE +en Lumbar hypolordosis HP:0034770 rdfs:label nl Lumbale hypolordose OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Lumbar interpedicular narrowing HP:0008486 rdfs:label nl Lumbale interpediculaire vernauwing CANDIDATE +en Lumbar kyphoscoliosis HP:0004619 rdfs:label nl Lumbale kyphoscoliose CANDIDATE +en Lumbar kyphosis HP:0008454 rdfs:label nl Lumbale kyfose CANDIDATE +en Lumbar kyphosis in infancy HP:0008414 rdfs:label nl Lumbale kyfose in zuigelingenperiode CANDIDATE +en Lumbar platyspondyly HP:0005787 rdfs:label nl Lumbale platyspondylie CANDIDATE +en Lumbar scoliosis HP:0004626 rdfs:label nl Lumbale scoliose CANDIDATE +en Lumbar spinal canal stenosis HP:0004610 rdfs:label nl Lumbale wervelkanaalstenose CANDIDATE +en Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine HP:0031952 IAO:0000115 nl Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine NOT_TRANSLATED +en Lumbosacral hemangioma HP:0410275 rdfs:label nl Lumbosacral hemangioma NOT_TRANSLATED +en Lumbosacral hirsutism HP:0009747 rdfs:label nl Lumbosacraal hirsutisme CANDIDATE +en Lumbosacral meningocele HP:0200133 rdfs:label nl Lumbosacrale meningocele CANDIDATE +en Lunate-triquetral fusion HP:0004251 rdfs:label nl Lunatum-triquetrum fusie CANDIDATE +en Lung abscess HP:0025044 rdfs:label nl Long abces CANDIDATE +en Lung adenocarcinoma HP:0030078 rdfs:label nl Adenocarcinoom van de long CANDIDATE +en Lung fibroma HP:0010616 rdfs:label nl Long fibroom CANDIDATE +en Lung parenchymal involvement with lymphoma HP:0011953 IAO:0000115 nl Lung parenchymal involvement with lymphoma NOT_TRANSLATED +en Lupus anticoagulant HP:0025343 rdfs:label nl Lupus anticoagulans CANDIDATE +en Lupus nephritis HP:0033726 rdfs:label nl Lupus nephritis NOT_TRANSLATED +en Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management HP:0033726 IAO:0000115 nl Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management NOT_TRANSLATED +en Luse bodies HP:0031513 rdfs:label nl Luse bodies NOT_TRANSLATED +en Lymph node abscess HP:0033136 rdfs:label nl Lymph node abscess NOT_TRANSLATED +en Lymph node hypoplasia HP:0002732 rdfs:label nl Lymfeknoop hypoplasie CANDIDATE +en Lymph node necrosis HP:4000149 rdfs:label nl Lymph node necrosis NOT_TRANSLATED +en Lymphadenitis HP:0002840 rdfs:label nl Lymfadenitis CANDIDATE +en Lymphadenopathy HP:0002716 rdfs:label nl Lymfadenopathie CANDIDATE +en Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers HP:0002729 IAO:0000115 nl Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers NOT_TRANSLATED +en Lymphangiectasis HP:0031842 rdfs:label nl Lymphangiectasis NOT_TRANSLATED +en Lymphangioma HP:0100764 rdfs:label nl Lymphangioom CANDIDATE +en Lymphangioma of the orbit HP:0500091 rdfs:label nl Lymphangioma of the orbit NOT_TRANSLATED +en Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor HP:0100764 IAO:0000115 nl Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor NOT_TRANSLATED +en Lymphatic vessel neoplasm HP:0012797 rdfs:label nl Lymfevat neoplasma CANDIDATE +en Lymphedema HP:0001004 rdfs:label nl Lymfoedeem CANDIDATE +en Lymphocytic infiltration of the colorectal mucosa HP:0032216 rdfs:label nl Lymphocytic infiltration of the colorectal mucosa NOT_TRANSLATED +en Lymphocytic interstitial pneumonia HP:0006527 rdfs:label nl Lymfoïde interstitiële pneumonie CANDIDATE +en Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa HP:0006527 IAO:0000115 nl Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa NOT_TRANSLATED +en Lymphocytoma cutis HP:0031549 rdfs:label nl Lymfocytoma cutis CANDIDATE +en Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis HP:0031549 IAO:0000115 nl Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis NOT_TRANSLATED +en Lymphocytosis HP:0100827 rdfs:label nl Lymfocytose CANDIDATE +en Lymphoid cholangitis HP:0030989 rdfs:label nl Lymfoïde cholangitis CANDIDATE +en Lymphoid leukemia HP:0005526 rdfs:label nl Lymfoïde leukemie CANDIDATE +en Lymphoid nodular hyperplasia HP:0032203 rdfs:label nl Lymphoid nodular hyperplasia NOT_TRANSLATED +en Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236) HP:0032203 IAO:0000115 nl Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236) NOT_TRANSLATED +en Lymphoma HP:0002665 rdfs:label nl Lymfoom CANDIDATE +en Lymphoma that originates in the stomach itself HP:0045038 IAO:0000115 nl Lymphoma that originates in the stomach itself NOT_TRANSLATED +en Lymphopenia HP:0001888 rdfs:label nl Lymfopenie CANDIDATE +en Lymphoproliferative disorder HP:0005523 rdfs:label nl Lymfoproliferatieve aandoening CANDIDATE +en Lytic defects in metaphyses of the upper limbs HP:0003851 rdfs:label nl Lytische defecten in epifysen van bovenste ledematen CANDIDATE +en Lytic defects of carpal bones HP:0004238 rdfs:label nl Lytische defecten van carpale botten CANDIDATE +en Lytic defects of humeral diaphysis HP:0003930 rdfs:label nl Lytische defecten van diafyse van humerus CANDIDATE +en Lytic defects of radial diaphysis HP:0004029 rdfs:label nl Lytische defecten van diafyse van de radius CANDIDATE +en Lytic defects of radial metaphysis HP:0004021 rdfs:label nl Lytische gebreken van metafyse van de radius CANDIDATE +en Lytic defects of the forearm bones HP:0003963 rdfs:label nl Lytische defecten van botten van ondearm CANDIDATE +en Lytic defects of the humeral metaphysis HP:0003915 rdfs:label nl Lytische defecten van de metaphyse van de humerus CANDIDATE +en Lytic defects of the radius HP:0003979 rdfs:label nl Lytische defecten van de radius CANDIDATE +en Lytic defects of ulnar metaphysis HP:0004043 rdfs:label nl Lytische gebreken van metafyse van de ulna CANDIDATE +en Maceration HP:0032007 rdfs:label nl Maceration NOT_TRANSLATED +en Macrocephalic sperm head HP:0025437 rdfs:label nl Macrocephalic sperm head NOT_TRANSLATED +en Macrocephaly HP:0000256 rdfs:label nl Macrocefalie CANDIDATE +en Macrocephaly at birth HP:0004488 rdfs:label nl Macrocefalie bij geboorte CANDIDATE +en Macrocytic anemia HP:0001972 rdfs:label nl Macrocytaire anemie CANDIDATE +en Macrocytic dyserythropoietic anemia HP:0005532 rdfs:label nl Macrocytaire dyserythropoietische anemie CANDIDATE +en Macrocytic hemolytic disease HP:0005524 rdfs:label nl Macrocytaire hemolytische aandoening CANDIDATE +en Macrodactyly HP:0004099 rdfs:label nl Macrodactylie CANDIDATE +en Macrodactyly of finger HP:0100746 rdfs:label nl Macrodactylie van finger CANDIDATE +en Macrodactyly of toe HP:0100747 rdfs:label nl Macrodactylie van teen CANDIDATE +en Macrodontia HP:0001572 rdfs:label nl Macrodontie CANDIDATE +en Macrodontia of permanent maxillary central incisor HP:0000675 rdfs:label nl Macrodontie van permanente maxillaire centrale snijtand CANDIDATE +en Macroglossia HP:0000158 rdfs:label nl Macroglossie CANDIDATE +en Macrogyria HP:0007227 rdfs:label nl Macrogyrie CANDIDATE +en Macronodular adrenal hyperplasia HP:0008231 rdfs:label nl Macronodulaire bijnier hyperplasie CANDIDATE +en Macronodular cirrhosis HP:0006577 rdfs:label nl Macronodulaire cirrose CANDIDATE +en Macroorchidism HP:0000053 rdfs:label nl Macroorchidisme CANDIDATE +en Macroorchidism, postpubertal HP:0002050 rdfs:label nl Macroorchidisme, post-puberteit CANDIDATE +en Macroprolactinoma HP:0012342 rdfs:label nl Macroprolactinoom CANDIDATE +en Macrosaccadic oscillations HP:0032105 rdfs:label nl Macrosaccadic oscillations NOT_TRANSLATED +en Macroscopic hematuria HP:0012587 rdfs:label nl Macroscopische hematurie CANDIDATE +en Macrosquare-wave jerks HP:0032116 rdfs:label nl Macrosquare-wave jerks NOT_TRANSLATED +en Macrothrombocytopenia HP:0040185 rdfs:label nl Macrotrombocytopenie CANDIDATE +en Macrotia HP:0000400 rdfs:label nl Macrotia CANDIDATE +en Macrovesicular hepatic steatosis HP:0001403 rdfs:label nl Macrovesiculaire hepatische steatose CANDIDATE +en Macular agenesis HP:0033743 rdfs:label nl Macular agenesis NOT_TRANSLATED +en Macular atrophy HP:0007401 rdfs:label nl Atrofie van de macula CANDIDATE +en Macular coloboma HP:0001116 rdfs:label nl Maculair coloboom CANDIDATE +en Macular cotton wool spot HP:0030497 rdfs:label nl Macular cotton wool spot NOT_TRANSLATED +en Macular crystals HP:0030501 rdfs:label nl Macula kristallen CANDIDATE +en Macular degeneration HP:0000608 rdfs:label nl Maculaire degeneratie CANDIDATE +en Macular dots HP:0032028 rdfs:label nl Macular dots NOT_TRANSLATED +en Macular drusen HP:0030499 rdfs:label nl Macula drusen CANDIDATE +en Macular dystrophy HP:0007754 rdfs:label nl Macula dystrofie CANDIDATE +en Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident HP:0007754 IAO:0000115 nl Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident NOT_TRANSLATED +en Macular edema HP:0040049 rdfs:label nl Macula oedeem CANDIDATE +en Macular exudate HP:0030496 rdfs:label nl Macula exsudaat CANDIDATE +en Macular flecks HP:0011507 rdfs:label nl Macular flecks NOT_TRANSLATED +en Macular hemorrhage HP:0025574 rdfs:label nl Macula bloeding CANDIDATE +en Macular hole HP:0011508 rdfs:label nl Maculagat CANDIDATE +en Macular hyperpigmentation HP:0011509 rdfs:label nl Macula hyperpigmentatie CANDIDATE +en Macular hyperpigmented dermopathy HP:0007412 rdfs:label nl Gehyperpigmenteerde dermopathie van macula CANDIDATE +en Macular hypopigmentation HP:0007988 rdfs:label nl Macula hypopigmentatie CANDIDATE +en Macular hypopigmented whorls, streaks, and patches HP:0005593 rdfs:label nl Macula gehypopigmenteerde slierten, strepen, en patches CANDIDATE +en Macular hypoplasia HP:0001104 rdfs:label nl Maculaire hypoplasie CANDIDATE +en Macular microaneurysm/hemorrhage HP:0030494 rdfs:label nl Macula microaneurysma/bloeding CANDIDATE +en Macular purpura HP:0031365 rdfs:label nl Macula purpura CANDIDATE +en Macular scar HP:0200056 rdfs:label nl Litteken van de macula CANDIDATE +en Macular schisis HP:0011511 rdfs:label nl Maculaire schisis CANDIDATE +en Macular telangiectasia HP:0030503 rdfs:label nl Macula teleangiëctasieën CANDIDATE +en Macular thickening HP:0030498 rdfs:label nl Macula verdikking CANDIDATE +en Macule HP:0012733 rdfs:label nl Macula CANDIDATE +en Maculopapular exanthema HP:0040186 rdfs:label nl Maculopapuleus exantheem CANDIDATE +en Madelung deformity HP:0003067 rdfs:label nl Madelung deformiteit CANDIDATE +en Madelung-like forearm deformities HP:0003068 rdfs:label nl Madelung-achtige onderarm deformiteiten CANDIDATE +en Magnesium ammonium phosphate crystalluria HP:0032961 rdfs:label nl Magnesium ammonium phosphate crystalluria NOT_TRANSLATED +en Magnesium ammonium phosphate crystals in the urine HP:0032961 IAO:0000115 nl Magnesium ammonium phosphate crystals in the urine NOT_TRANSLATED +en Maintenance insomnia HP:0031355 rdfs:label nl Maintenance insomnia NOT_TRANSLATED +en Majocchi's granuloma HP:0032517 rdfs:label nl Majocchi's granuloma NOT_TRANSLATED +en Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles HP:0032517 IAO:0000115 nl Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles NOT_TRANSLATED +en Malabsorption HP:0002024 rdfs:label nl Malabsorptie CANDIDATE +en Malabsorption of Vitamin B12 HP:0200118 rdfs:label nl Malabsorptie van vitamine B12 CANDIDATE +en Malaise HP:0033834 rdfs:label nl Malaise NOT_TRANSLATED +en Malaligned carpal bone HP:0006092 rdfs:label nl Verkeerd uitgelijnd carpaal bot CANDIDATE +en Malaligned philtral ridges HP:0011827 rdfs:label nl Malaligned philtral ridges NOT_TRANSLATED +en Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna) HP:0006092 IAO:0000115 nl Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna) NOT_TRANSLATED +en Malalignment of the great toenail HP:0031282 rdfs:label nl Malalignment of the great toenail NOT_TRANSLATED +en Malar flattening HP:0000272 rdfs:label nl Zygomatische afvlakking CANDIDATE +en Malar prominence HP:0010620 rdfs:label nl Malar prominence NOT_TRANSLATED +en Malar rash HP:0025300 rdfs:label nl Malar uitslag CANDIDATE +en Maldevelopment of radioulnar joint HP:0005829 rdfs:label nl Ontwikkelingsstoornis van radioulnaire gewricht CANDIDATE +en Male anorgasmia HP:0040308 rdfs:label nl Mannelijke anorgasmie CANDIDATE +en Male hypogonadism HP:0000026 rdfs:label nl Mannelijke hypogonadisme CANDIDATE +en Male infertility HP:0003251 rdfs:label nl Mannelijke onvruchtbaarheid CANDIDATE +en Male pseudohermaphroditism HP:0000037 rdfs:label nl Mannelijk pseudohermafroditisme CANDIDATE +en Male reproductive system neoplasm HP:0033019 rdfs:label nl Male reproductive system neoplasm NOT_TRANSLATED +en Male sexual dysfunction HP:0040307 rdfs:label nl Mannelijke seksuele disfunctie CANDIDATE +en Male urethral meatus stenosis HP:0032077 rdfs:label nl Male urethral meatus stenosis NOT_TRANSLATED +en Male-limited expression HP:0001475 rdfs:label nl Man-gelimiteerd autosomaal dominant CANDIDATE +en Malformation of mandibular premolar HP:0006338 rdfs:label nl Misvorming van mandibulaire premolaar CANDIDATE +en Malformation of the hepatic ductal plate HP:0006563 rdfs:label nl Malformatie van de hepatische ductale plaat CANDIDATE +en Malformation of the rib cage HP:0000886 IAO:0000115 nl Malformation of the rib cage NOT_TRANSLATED +en Malformed lacrimal duct HP:0007993 rdfs:label nl Misvormde traanbuizen CANDIDATE +en Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss HP:0012181 IAO:0000115 nl Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss NOT_TRANSLATED +en Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia HP:0006897 IAO:0000115 nl Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia NOT_TRANSLATED +en Malignant eosinophil proliferation HP:0006782 rdfs:label nl Maligne eosinofiele proliferatie CANDIDATE +en Malignant gastrointestinal tract tumors HP:0006749 rdfs:label nl Maligne gastro-intestinale tumoren CANDIDATE +en Malignant genitourinary tract tumor HP:0006758 rdfs:label nl Maligne urogenitale tumor CANDIDATE +en Malignant hyperthermia HP:0002047 rdfs:label nl Maligne hyperthermie CANDIDATE +en Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine HP:0002047 IAO:0000115 nl Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine NOT_TRANSLATED +en Malignant mesothelioma HP:0100001 rdfs:label nl Maligne mesothelioom CANDIDATE +en Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer HP:0100001 IAO:0000115 nl Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer NOT_TRANSLATED +en Malignant neoplasm of the central nervous system HP:0100836 rdfs:label nl Maligne neoplasma van het centrale zenuwstelsel CANDIDATE +en Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway HP:0012034 IAO:0000115 nl Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway NOT_TRANSLATED +en Malignant ovarian granulosa cell tumor HP:0031920 rdfs:label nl Malignant ovarian granulosa cell tumor NOT_TRANSLATED +en Malignant tumor of melanocytes affecting the iris HP:0011524 IAO:0000115 nl Malignant tumor of melanocytes affecting the iris NOT_TRANSLATED +en Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented) HP:0012054 IAO:0000115 nl Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented) NOT_TRANSLATED +en Malignant tumor of melanocytes of the ciliary body HP:0012055 IAO:0000115 nl Malignant tumor of melanocytes of the ciliary body NOT_TRANSLATED +en Mallet finger HP:0030771 rdfs:label nl Malletvinger CANDIDATE +en Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own HP:0030771 IAO:0000115 nl Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own NOT_TRANSLATED +en Mallory-Weiss tear HP:0032062 rdfs:label nl Mallory-Weiss tear NOT_TRANSLATED +en Malnutrition HP:0004395 rdfs:label nl Ondervoeding CANDIDATE +en Malposition of the stomach HP:0100802 rdfs:label nl Malpositie van de maag CANDIDATE +en Malrotation of colon HP:0004785 rdfs:label nl Malrotatie van colon CANDIDATE +en Malrotation of small bowel HP:0004794 rdfs:label nl Malrotatie van dunne darm CANDIDATE +en Mandibular aplasia HP:0009939 rdfs:label nl Mandibulaire aplasie CANDIDATE +en Mandibular condyle aplasia HP:0007627 rdfs:label nl Aplasie van de condyl van de mandibula CANDIDATE +en Mandibular condyle hypoplasia HP:0007628 rdfs:label nl Hypoplasie van de condyl van de mandibula CANDIDATE +en Mandibular hyperostosis HP:0004472 rdfs:label nl Mandibulaire hyperostose CANDIDATE +en Mandibular osteolysis HP:0034046 rdfs:label nl Mandibular osteolysis NOT_TRANSLATED +en Mandibular osteomyelitis HP:0007626 rdfs:label nl Mandibulaire osteomyelitis CANDIDATE +en Mandibular pain HP:0200025 rdfs:label nl Mandibulaire pijn CANDIDATE +en Mandibular prognathia HP:0000303 rdfs:label nl Mandibulaire prognathie CANDIDATE +en Mandibulofacial dysostosis HP:0005321 rdfs:label nl Mandibulofaciale dysostose CANDIDATE +en Mania HP:0100754 rdfs:label nl Manie CANDIDATE +en Manifest deviation of the visual axes not controlled by fusion HP:0032012 IAO:0000115 nl Manifest deviation of the visual axes not controlled by fusion NOT_TRANSLATED +en Map-dot-fingerprint corneal dystrophy HP:0007690 rdfs:label nl Map-dot-fingerprint corneal dystrophy NOT_TRANSLATED +en Marcus Gunn jaw winking synkinesis HP:0025186 rdfs:label nl Marcus Gunn jaw winking syndroom CANDIDATE +en Marcus Gunn pupil HP:0200057 rdfs:label nl Marcus Gunn pupil CANDIDATE +en Marginal corneal dystrophy HP:0007880 rdfs:label nl Marginale cornea dystrofie CANDIDATE +en Marginal umbilical cord insertion HP:0030658 rdfs:label nl Marginale navelstreng insertie CANDIDATE +en Marked anterior chamber flare (iris and lens details hazy) HP:0031620 IAO:0000115 nl Marked anterior chamber flare (iris and lens details hazy) NOT_TRANSLATED +en Marked decrease in the number of granulocytes HP:0012234 IAO:0000115 nl Marked decrease in the number of granulocytes NOT_TRANSLATED +en Marked delay in bone age HP:0003799 rdfs:label nl Duidelijk achterlopende bot leeftijd CANDIDATE +en Marked delay in eruption of permanent teeth HP:0006291 rdfs:label nl Duidelijk vertraagd doorkomen van permanente tanden CANDIDATE +en Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s) HP:0032939 IAO:0000115 nl Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s) NOT_TRANSLATED +en Marked rugae formation of the skin of the labia majora HP:0030913 IAO:0000115 nl Marked rugae formation of the skin of the labia majora NOT_TRANSLATED +en Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection HP:0010777 IAO:0000115 nl Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection NOT_TRANSLATED +en Marked widening of the trachea HP:0010778 IAO:0000115 nl Marked widening of the trachea NOT_TRANSLATED +en Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection HP:0010776 IAO:0000115 nl Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection NOT_TRANSLATED +en Marked, involuntary jerking of the eyelids HP:0025097 IAO:0000115 nl Marked, involuntary jerking of the eyelids NOT_TRANSLATED +en Mask-like facies HP:0000298 rdfs:label nl Maskerachtig gelaat CANDIDATE +en Mass on thoracic imaging HP:0033822 rdfs:label nl Mass on thoracic imaging NOT_TRANSLATED +en Masseter muscular weakness HP:0032520 rdfs:label nl Masseter muscular weakness NOT_TRANSLATED +en Massively thickened long bone cortices HP:0005665 rdfs:label nl Masaal verdikte cortices van lang bot CANDIDATE +en Mastalgia HP:0034265 rdfs:label nl Mastalgia NOT_TRANSLATED +en Mastocytosis HP:0100495 rdfs:label nl Mastocytose CANDIDATE +en Mastoiditis HP:0000265 rdfs:label nl Mastoïditis CANDIDATE +en Maternal anticardiolipin antibody positive HP:0012536 rdfs:label nl Maternale anticardiolipine antilichaam positiviteit CANDIDATE +en Maternal autoimmune disease HP:0011437 rdfs:label nl Maternale auto-immuunziekte CANDIDATE +en Maternal diabetes HP:0009800 rdfs:label nl Maternale diabetes CANDIDATE +en Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes HP:0009800 IAO:0000115 nl Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes NOT_TRANSLATED +en Maternal fever in pregnancy HP:0030244 rdfs:label nl Maternale koorts tijdens de zwangerschap CANDIDATE +en Maternal first trimester fever HP:0030246 rdfs:label nl Maternale eerste trimester koorts CANDIDATE +en Maternal hyperphenylalaninemia HP:0100610 rdfs:label nl Maternale hyperfenylalaninemie CANDIDATE +en Maternal hypertension HP:0008071 rdfs:label nl Maternale hypertensie CANDIDATE +en Maternal seizure HP:0100622 rdfs:label nl Maternale insulten CANDIDATE +en Maternal teratogenic exposure HP:0011438 rdfs:label nl Maternale teratogene blootstelling CANDIDATE +en Maternal thrombophilia HP:0040222 rdfs:label nl Maternale trombofilie CANDIDATE +en Maternal vascular malperfusion HP:0025719 rdfs:label nl Maternal vascular malperfusion NOT_TRANSLATED +en Maternal virilization in pregnancy HP:0008072 rdfs:label nl Maternale virilisatie tijdens de zwangerschap CANDIDATE +en Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa HP:0031038 IAO:0000115 nl Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa NOT_TRANSLATED +en Maturity-onset diabetes of the young HP:0004904 rdfs:label nl Maturity-onset diabetes of the young CANDIDATE +en Maxillary lateral incisor microdontia HP:0001593 rdfs:label nl Maxillaire laterale snijtandmicrodontie CANDIDATE +en Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm HP:0011094 IAO:0000115 nl Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm NOT_TRANSLATED +en Maxillozygomatic hypoplasia HP:0005439 rdfs:label nl Maxillozygomatische hypoplasie CANDIDATE +en Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload HP:0033760 IAO:0000115 nl Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload NOT_TRANSLATED +en McConnell sign HP:0034331 rdfs:label nl McConnell sign NOT_TRANSLATED +en Meat allergen allergy HP:0410330 rdfs:label nl Meat allergen allergy NOT_TRANSLATED +en Mechanical entropion HP:0031738 rdfs:label nl Mechanische entropion CANDIDATE +en Mechanical ileus HP:0010676 rdfs:label nl Mechanische ileus CANDIDATE +en Mechanical limitation of the range of movement of the inferior oblique muscle HP:0025597 IAO:0000115 nl Mechanical limitation of the range of movement of the inferior oblique muscle NOT_TRANSLATED +en Mechanical limitation of the range of movement of the inferior rectus muscle HP:0025602 IAO:0000115 nl Mechanical limitation of the range of movement of the inferior rectus muscle NOT_TRANSLATED +en Mechanical limitation of the range of movement of the lateral rectus muscle HP:0031758 IAO:0000115 nl Mechanical limitation of the range of movement of the lateral rectus muscle NOT_TRANSLATED +en Mechanical limitation of the range of movement of the medial rectus muscle HP:0031757 IAO:0000115 nl Mechanical limitation of the range of movement of the medial rectus muscle NOT_TRANSLATED +en Mechanical limitation of the range of movement of the superior oblique muscle HP:0025593 IAO:0000115 nl Mechanical limitation of the range of movement of the superior oblique muscle NOT_TRANSLATED +en Mechanical limitation of the range of movement of the superior rectus muscle HP:0031746 IAO:0000115 nl Mechanical limitation of the range of movement of the superior rectus muscle NOT_TRANSLATED +en Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle HP:0003760 IAO:0000115 nl Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle NOT_TRANSLATED +en Meckel diverticulum HP:0002245 rdfs:label nl Meckel diverticulum CANDIDATE +en Meckel's diverticulum is a congenital diverticulum located in the distal ileum HP:0002245 IAO:0000115 nl Meckel's diverticulum is a congenital diverticulum located in the distal ileum NOT_TRANSLATED +en Meconium ileus HP:0004401 rdfs:label nl Meconium ileus CANDIDATE +en Meconium peritonitis HP:0030717 rdfs:label nl Meconium peritonitis CANDIDATE +en Meconium pseudocyst HP:0025674 rdfs:label nl Meconium pseudocyst NOT_TRANSLATED +en Meconium stained amniotic fluid HP:0012420 rdfs:label nl Meconium stained amniotic fluid NOT_TRANSLATED +en Meconium xenobiotic HP:0500098 rdfs:label nl Meconium xenobiotic NOT_TRANSLATED +en Medial arterial calcification HP:0012456 rdfs:label nl Mediale arteriële calcificatie CANDIDATE +en Medial calcification of large arteries HP:0004966 rdfs:label nl Mediale calcificatie van de grote arteriën CANDIDATE +en Medial calcification of medium-sized arteries HP:0012457 rdfs:label nl Mediale calcificatie van middelgrote arteriën CANDIDATE +en Medial calcification of small arteries HP:0012458 rdfs:label nl Mediale verkalking van de kleine arteriën CANDIDATE +en Medial canthal tendon laxity HP:0032031 rdfs:label nl Medial canthal tendon laxity NOT_TRANSLATED +en Medial degeneration HP:0032079 rdfs:label nl Medial degeneration NOT_TRANSLATED +en Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections HP:0032079 IAO:0000115 nl Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections NOT_TRANSLATED +en Medial deviation of the foot HP:0008082 rdfs:label nl Mediale deviatie van de voet CANDIDATE +en Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially HP:0008080 IAO:0000115 nl Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially NOT_TRANSLATED +en Medial deviation of the second toe HP:0008096 IAO:0000115 nl Medial deviation of the second toe NOT_TRANSLATED +en Medial flaring of the eyebrow HP:0010747 rdfs:label nl Medial flaring of the eyebrow NOT_TRANSLATED +en Medial rectus muscle overaction HP:0031754 rdfs:label nl Rectus medialis overbelasting CANDIDATE +en Medial rectus muscle restriction HP:0031757 rdfs:label nl Rectus medialis spierbeperking CANDIDATE +en Medial rectus muscle underaction HP:0031756 rdfs:label nl Rectus medialis onderbelasting CANDIDATE +en Medial rectus muscle weakness HP:0031753 rdfs:label nl Rectus medialis spierzwakte CANDIDATE +en Medial rotation of the medial malleolus HP:0008132 rdfs:label nl Mediale rotatie van de mediale malleolus CANDIDATE +en Medial widening of clavicles HP:0006599 rdfs:label nl Mediale verwijding van claviculae CANDIDATE +en Medial/intimal arcuate venosclerosis HP:0033916 rdfs:label nl Medial/intimal arcuate venosclerosis NOT_TRANSLATED +en Medial/intimal arcuate venulitis HP:0033919 rdfs:label nl Medial/intimal arcuate venulitis NOT_TRANSLATED +en Medially deficient radial epiphyses HP:0004001 rdfs:label nl Mediaal deficiënte epifysen van de radius CANDIDATE +en Medially deviated second toe HP:0008096 rdfs:label nl Mediaal gedevieerde tweede teen CANDIDATE +en Medially flattened radial epiphyses HP:0004003 rdfs:label nl Mediaal afgevlakte epifysen van de radius CANDIDATE +en Medially fused radial epiphyseal plates HP:0004013 rdfs:label nl Mediaal gefuseerde eifysaire platen van de radius CANDIDATE +en Medially sloping radial epiphyses HP:0004009 rdfs:label nl Medially sloping radial epiphyses NOT_TRANSLATED +en Medially sloping radial metaphysis HP:0004024 rdfs:label nl Medially sloping radial metaphysis NOT_TRANSLATED +en Median cleft lip HP:0000161 rdfs:label nl Mediaan gespleten lip CANDIDATE +en Median cleft lip and palate HP:0008501 rdfs:label nl Mediaan gespleten lip en gehemelte CANDIDATE +en Median cleft palate HP:0009099 rdfs:label nl Mediaan gespleten gehemelte CANDIDATE +en Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear HP:0400004 IAO:0000115 nl Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear NOT_TRANSLATED +en Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective) HP:0000400 IAO:0000115 nl Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective) NOT_TRANSLATED +en Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear HP:0400005 IAO:0000115 nl Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear NOT_TRANSLATED +en Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear HP:0008569 IAO:0000115 nl Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear NOT_TRANSLATED +en Median pseudocleft lip HP:0034185 rdfs:label nl Median pseudocleft lip NOT_TRANSLATED +en Mediastinal cystic lymphangioma HP:0030785 rdfs:label nl Mediastinale cysteus lymfangioom CANDIDATE +en Mediastinal lymphadenopathy HP:0100721 rdfs:label nl Mediastinale lymfadenopathie CANDIDATE +en Mediastinal mass HP:0033823 rdfs:label nl Mediastinal mass NOT_TRANSLATED +en Mediastinal teratoma HP:0030741 rdfs:label nl Mediastinaal teratoom CANDIDATE +en Medical history of a dental procedure in recent weeks HP:4000146 IAO:0000115 nl Medical history of a dental procedure in recent weeks NOT_TRANSLATED +en Medical history of a recent bite injury due to a tick HP:0020140 IAO:0000115 nl Medical history of a recent bite injury due to a tick NOT_TRANSLATED +en Medical history of a recent bite injury due to an animal HP:0020138 IAO:0000115 nl Medical history of a recent bite injury due to an animal NOT_TRANSLATED +en Medical history of a recent bite injury due to an insect HP:0020139 IAO:0000115 nl Medical history of a recent bite injury due to an insect NOT_TRANSLATED +en Medical history of a viral illness in recent weeks HP:4000145 IAO:0000115 nl Medical history of a viral illness in recent weeks NOT_TRANSLATED +en Medication crystalluria HP:0033068 rdfs:label nl Medication crystalluria NOT_TRANSLATED +en Medication history HP:4000112 rdfs:label nl Medication history NOT_TRANSLATED +en Mediosternal, longitudinal streak of hypopigmentation HP:0007581 rdfs:label nl Mediosternale, longitudinale streep van hypopigmentatie CANDIDATE +en Medium chain dicarboxylic aciduria HP:0008309 rdfs:label nl Medium-keten dicarboxylische acidurie CANDIDATE +en Medullary nephrocalcinosis HP:0012408 rdfs:label nl Medullaire nefrocalcinose CANDIDATE +en Medullary peritubular capillaritis HP:0033865 rdfs:label nl Medullary peritubular capillaritis NOT_TRANSLATED +en Medullary peritubular capillary erythrocyte congestion HP:0033866 rdfs:label nl Medullary peritubular capillary erythrocyte congestion NOT_TRANSLATED +en Medullary peritubular capillary intraluminal thrombi HP:0033870 rdfs:label nl Medullary peritubular capillary intraluminal thrombi NOT_TRANSLATED +en Medullary peritubular capillary lumen cholesterol emboli HP:0033869 rdfs:label nl Medullary peritubular capillary lumen cholesterol emboli NOT_TRANSLATED +en Medullary peritubular capillary lumen organized thrombi HP:0033871 rdfs:label nl Medullary peritubular capillary lumen organized thrombi NOT_TRANSLATED +en Medullary thyroid carcinoma HP:0002865 rdfs:label nl Medullair schildklier carcinoom CANDIDATE +en Medulloblastoma HP:0002885 rdfs:label nl Medulloblastoom CANDIDATE +en Medulloepithelioma HP:0030071 rdfs:label nl Medulloepithelioom CANDIDATE +en Meeting of the medial eyebrows in the midline HP:0000664 IAO:0000115 nl Meeting of the medial eyebrows in the midline NOT_TRANSLATED +en Megacystis HP:0000021 rdfs:label nl Megacystis CANDIDATE +en Megaduodenum HP:0030996 rdfs:label nl Megaduodenum CANDIDATE +en Megakaryocyte dysplasia HP:0031689 rdfs:label nl Megakaryocytaire dysplasie CANDIDATE +en Megakaryocyte nucleus hyperlobulation HP:0031388 rdfs:label nl Megakaryocyte nucleus hyperlobulation NOT_TRANSLATED +en Megakaryocyte nucleus hypolobulation HP:0031385 rdfs:label nl Megakaryocytaire nucleus hypolobulatie CANDIDATE +en Megakaryocytopenia HP:0005548 rdfs:label nl Megakaryocytopenie CANDIDATE +en Megalencephaly HP:0001355 rdfs:label nl Megalencefalie CANDIDATE +en Megaloblastic anemia HP:0001889 rdfs:label nl Megaloblastaire anemie CANDIDATE +en Megaloblastic bone marrow HP:0001980 rdfs:label nl Megaloblastair beenmerg CANDIDATE +en Megaloblastic erythroid hyperplasia HP:0200143 rdfs:label nl Megaloblastaire erythroïde hyperplasie CANDIDATE +en Megaloblepharon HP:0034428 rdfs:label nl Megaloblepharon NOT_TRANSLATED +en Megalocornea HP:0000485 rdfs:label nl Megalocornea CANDIDATE +en Megalopapilla HP:0034302 rdfs:label nl Megalopapilla NOT_TRANSLATED +en Megarectum HP:0025024 rdfs:label nl Megarectum CANDIDATE +en Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction HP:4000035 IAO:0000115 nl Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction NOT_TRANSLATED +en Melanin pigment aggregation in hair shafts HP:0002220 rdfs:label nl Melanine pigment aggregatie in haarschachten CANDIDATE +en Melanocytic nevus HP:0000995 rdfs:label nl Melanocytaire naevus CANDIDATE +en Melanoma HP:0002861 rdfs:label nl Melanoom CANDIDATE +en Melanonychia HP:0100644 rdfs:label nl Melanonychia CANDIDATE +en Melasma HP:0025272 rdfs:label nl Melasma CANDIDATE +en Melena HP:0002249 rdfs:label nl Melena CANDIDATE +en Membranoproliferative glomerulonephritis HP:0000793 rdfs:label nl Membranoproliferatieve glomerulonefritis CANDIDATE +en Membranous cataract HP:0010922 rdfs:label nl Membraneuze cataract CANDIDATE +en Membranous choanal atresia HP:0011820 rdfs:label nl Membraneuze choane atresie CANDIDATE +en Membranous lupus nephritis HP:0033730 rdfs:label nl Membranous lupus nephritis NOT_TRANSLATED +en Membranous nephropathy HP:0012578 rdfs:label nl Membraanachtige nefropathie CANDIDATE +en Membranous subvalvular aortic stenosis HP:0005174 rdfs:label nl Subvalvulaire membraneuze aortastenose CANDIDATE +en Membranous ventricular septal aneurysm HP:0030958 rdfs:label nl Membraneus ventriculaire septum aneurysma CANDIDATE +en Membranous vitreous appearance HP:0031153 rdfs:label nl Membranous vitreous appearance NOT_TRANSLATED +en Memory impairment HP:0002354 rdfs:label nl Geheugenstoornis CANDIDATE +en Mendelian inheritance HP:0034345 rdfs:label nl Mendelian inheritance NOT_TRANSLATED +en Meningeal calcification HP:0100250 rdfs:label nl Meningeale calcificatie CANDIDATE +en Meningioma HP:0002858 rdfs:label nl Meningeoom CANDIDATE +en Meningitis HP:0001287 rdfs:label nl Meningitis CANDIDATE +en Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF) HP:0007041 IAO:0000115 nl Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Meningocele HP:0002435 rdfs:label nl Meningocele CANDIDATE +en Meningoencephalocele HP:0006888 rdfs:label nl Meningoencefalocele CANDIDATE +en Menometrorrhagia HP:0400008 rdfs:label nl Menometrorrhagie CANDIDATE +en Menorrhagia HP:0000132 rdfs:label nl Menorragie CANDIDATE +en Mental deterioration HP:0001268 rdfs:label nl Mentale achteruitgang CANDIDATE +en Merkel cell skin cancer HP:0030447 rdfs:label nl Merkelcel kanker CANDIDATE +en Meromelia HP:0030728 rdfs:label nl Meromelie CANDIDATE +en Mesangial Immune complex deposition HP:0033295 rdfs:label nl Mesangial Immune complex deposition NOT_TRANSLATED +en Mesangial amyloid deposition HP:0033548 rdfs:label nl Mesangial amyloid deposition NOT_TRANSLATED +en Mesangial cell loss HP:0033320 rdfs:label nl Mesangial cell loss NOT_TRANSLATED +en Mesangial fibril deposition HP:0033544 rdfs:label nl Mesangial fibril deposition NOT_TRANSLATED +en Mesangial fibrillary deposits HP:0033545 rdfs:label nl Mesangial fibrillary deposits NOT_TRANSLATED +en Mesangial hyaline deposition HP:0033234 rdfs:label nl Mesangial hyaline deposition NOT_TRANSLATED +en Mesangial hypercellularity HP:0012574 rdfs:label nl Mesangiale hypercellulariteit CANDIDATE +en Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane HP:0033233 IAO:0000115 nl Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane NOT_TRANSLATED +en Mesangial immunotactoid deposits HP:0033547 rdfs:label nl Mesangial immunotactoid deposits NOT_TRANSLATED +en Mesangial matrix expansion HP:0033493 rdfs:label nl Mesangial matrix expansion NOT_TRANSLATED +en Mesangial microfibril deposition HP:0033546 rdfs:label nl Mesangial microfibril deposition NOT_TRANSLATED +en Mesangial proliferative lupus nephritis HP:0033728 rdfs:label nl Mesangial proliferative lupus nephritis NOT_TRANSLATED +en Mesangiolysis HP:0030762 rdfs:label nl Mesangiolysis CANDIDATE +en Mesenteric cyst HP:0030451 rdfs:label nl Mesenteriale cyste CANDIDATE +en Mesenteric venous thrombosis HP:0030248 rdfs:label nl Vena mesenterica trombose CANDIDATE +en Mesial parasagittal subcortical heterotopia HP:0032394 rdfs:label nl Mesial parasagittal subcortical heterotopia NOT_TRANSLATED +en Mesiodens HP:0011067 rdfs:label nl Mesiodens CANDIDATE +en Mesoaxial foot polydactyly HP:0010112 rdfs:label nl Meso-axiale polydactylie van de voet CANDIDATE +en Mesoaxial hand polydactyly HP:0006159 rdfs:label nl Mesoaxiale hand polydactylie CANDIDATE +en Mesoaxial polydactyly HP:0100260 rdfs:label nl Mesoaxiale polydactylie CANDIDATE +en Mesocardia HP:0011599 rdfs:label nl Mesocardie CANDIDATE +en Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane HP:0011599 IAO:0000115 nl Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane NOT_TRANSLATED +en Mesomelia HP:0003027 rdfs:label nl Mesomelie CANDIDATE +en Mesomelic arm shortening HP:0005011 rdfs:label nl Mesomelische arm verkorting CANDIDATE +en Mesomelic leg shortening HP:0004987 rdfs:label nl Mesomelische been verkorting CANDIDATE +en Mesomelic short stature HP:0008845 rdfs:label nl Mesomelische kleine lengte CANDIDATE +en Mesomelic/rhizomelic limb shortening HP:0005026 rdfs:label nl Mesomelische/rhizomelische ledemaat verkorting CANDIDATE +en Metabolic acidosis HP:0001942 rdfs:label nl Metabole acidose CANDIDATE +en Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause HP:0001942 IAO:0000115 nl Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause NOT_TRANSLATED +en Metabolic alkalosis HP:0200114 rdfs:label nl Metabole alkalose CANDIDATE +en Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process HP:0200114 IAO:0000115 nl Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process NOT_TRANSLATED +en Metabolic ketoacidosis HP:0005979 rdfs:label nl Metabole ketoacidose CANDIDATE +en Metacarpal diaphyseal endosteal sclerosis HP:0006174 rdfs:label nl Endostale sclerose van diafyse van metacarpaal CANDIDATE +en Metacarpal osteolysis HP:0001504 rdfs:label nl Metacarpale osteolyse CANDIDATE +en Metacarpal periosteal thickening HP:0006051 rdfs:label nl Metacarpale periosteale verdikking CANDIDATE +en Metacarpal synostosis HP:0009701 rdfs:label nl Metacarpale synostose CANDIDATE +en Metacarpal that becomes thinner toward the distal end HP:0006108 IAO:0000115 nl Metacarpal that becomes thinner toward the distal end NOT_TRANSLATED +en Metacarpophalangeal joint contracture HP:0006070 rdfs:label nl Metacarpofalangeale gewrichtscontractuur CANDIDATE +en Metacarpophalangeal joint hyperextensibility HP:0006099 rdfs:label nl Metacarpofalangeale gewricht hyperextensibiliteit CANDIDATE +en Metacarpophalangeal synostosis HP:0005880 rdfs:label nl Metacarpofalangeale synostose CANDIDATE +en Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans HP:0003653 IAO:0000115 nl Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans NOT_TRANSLATED +en Metachromatic leukodystrophy variant HP:0006926 rdfs:label nl Metachromatische leukodystrofie variant CANDIDATE +en Metamorphopsia HP:0012508 rdfs:label nl Metamorfopsie CANDIDATE +en Metaphyseal chondrodysplasia HP:0005871 rdfs:label nl Metafysaire chondrodysplasie CANDIDATE +en Metaphyseal chondromatosis of femur HP:0030295 rdfs:label nl Metafysaire chondromatose van femur CANDIDATE +en Metaphyseal chondromatosis of humerus HP:0030298 rdfs:label nl Metafysaire chondromatose van humerus CANDIDATE +en Metaphyseal chondromatosis of radius HP:0030296 rdfs:label nl Metafysaire chondromatose van radius CANDIDATE +en Metaphyseal chondromatosis of tibia HP:0030294 rdfs:label nl Metafysaire chondromatose van tibia CANDIDATE +en Metaphyseal chondromatosis of ulna HP:0030297 rdfs:label nl Metafysaire chondromatose van ulna CANDIDATE +en Metaphyseal cupping HP:0003021 rdfs:label nl Metaphyseal cupping NOT_TRANSLATED +en Metaphyseal cupping affecting the metacarpal bones HP:0006028 IAO:0000115 nl Metaphyseal cupping affecting the metacarpal bones NOT_TRANSLATED +en Metaphyseal cupping affecting the proximal phalanges HP:0006208 IAO:0000115 nl Metaphyseal cupping affecting the proximal phalanges NOT_TRANSLATED +en Metaphyseal cupping of metacarpals HP:0006028 rdfs:label nl Metaphyseal cupping of metacarpals NOT_TRANSLATED +en Metaphyseal cupping of proximal phalanges HP:0006208 rdfs:label nl Metaphyseal cupping of proximal phalanges NOT_TRANSLATED +en Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance HP:0003021 IAO:0000115 nl Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance NOT_TRANSLATED +en Metaphyseal dappling HP:0011860 rdfs:label nl Metaphyseal dappling NOT_TRANSLATED +en Metaphyseal dysplasia HP:0100255 rdfs:label nl Metafysaire dysplasie CANDIDATE +en Metaphyseal enchondromatosis HP:0005868 rdfs:label nl Metafysaire enchondromatose CANDIDATE +en Metaphyseal irregularity HP:0003025 rdfs:label nl Metafysaire irregulariteit CANDIDATE +en Metaphyseal rarefaction HP:0004980 rdfs:label nl Verdunning van de metafyse CANDIDATE +en Metaphyseal sclerosis HP:0004979 rdfs:label nl Metafysaire sclerose CANDIDATE +en Metaphyseal spurs HP:0005054 rdfs:label nl Metafysaire uitlopers CANDIDATE +en Metaphyseal striations HP:0031367 rdfs:label nl Metafysaire striaties CANDIDATE +en Metaphyseal widening HP:0003016 rdfs:label nl Metafysaire verbreding CANDIDATE +en Metastatic angiosarcoma HP:0200059 rdfs:label nl Metastatisch angiosarcoom CANDIDATE +en Metatarsal diaphyseal endosteal sclerosis HP:0008114 rdfs:label nl Endostale sclerose van diafyse van metatarsaal CANDIDATE +en Metatarsal osteolysis HP:0001473 rdfs:label nl Metatarsale osteolyse CANDIDATE +en Metatarsal periosteal thickening HP:0008074 rdfs:label nl Metatarsale periosteale verdikking CANDIDATE +en Metatarsal synostosis HP:0001440 rdfs:label nl Metatarsale synostose CANDIDATE +en Metatarsus adductus HP:0001840 rdfs:label nl Metatarsus adductus CANDIDATE +en Metatarsus valgus HP:0010508 rdfs:label nl Metatarsus valgus CANDIDATE +en Methamphetamine addiction HP:0033519 rdfs:label nl Methamphetamine addiction NOT_TRANSLATED +en Methemoglobinemia HP:0012119 rdfs:label nl Methemoglobinemie CANDIDATE +en Methicillin-resistant Staphylococcus aureus infection HP:0032326 rdfs:label nl Methicillin-resistant Staphylococcus aureus infection NOT_TRANSLATED +en Methioninuria HP:0032352 rdfs:label nl Methioninuria NOT_TRANSLATED +en Methylmalonic acidemia HP:0002912 rdfs:label nl Methylmalonacidurie CANDIDATE +en Methylmalonic aciduria HP:0012120 rdfs:label nl Methylmalonacidurie CANDIDATE +en Methylphenidate addiction HP:0033518 rdfs:label nl Methylphenidate addiction NOT_TRANSLATED +en Metopic depression HP:0011223 rdfs:label nl Metopische depressie CANDIDATE +en Metopic suture patent to nasal root HP:0005495 rdfs:label nl Metopic suture patent to nasal root NOT_TRANSLATED +en Metopic synostosis HP:0011330 rdfs:label nl Metopische synostose CANDIDATE +en Metrorrhagia HP:0100608 rdfs:label nl Metrorragie CANDIDATE +en Michaelis-Gutmann bodies HP:0033046 rdfs:label nl Michaelis-Gutmann bodies NOT_TRANSLATED +en Microangiopathic hemolytic anemia HP:0001937 rdfs:label nl Microangiopatische hemolytische anemie CANDIDATE +en Microblepharia HP:0430010 rdfs:label nl Microblefarie CANDIDATE +en Microcephalic sperm head HP:0032561 rdfs:label nl Microcephalic sperm head NOT_TRANSLATED +en Microcephaly HP:0000252 rdfs:label nl Microcefalie CANDIDATE +en Microcolon HP:0004388 rdfs:label nl Microcolon CANDIDATE +en Microcoria HP:0025492 rdfs:label nl Microcorie CANDIDATE +en Microcornea HP:0000482 rdfs:label nl Microcornea CANDIDATE +en Microcytic anemia HP:0001935 rdfs:label nl Microcytaire anemie CANDIDATE +en Microdontia HP:0000691 rdfs:label nl Microdontie CANDIDATE +en Microdontia of primary teeth HP:0006347 rdfs:label nl Microdontie van primaire tanden CANDIDATE +en Microgastria HP:0100841 rdfs:label nl Microgastrie CANDIDATE +en Microglossia HP:0000171 rdfs:label nl Microglossie CANDIDATE +en Micrognathia HP:0000347 rdfs:label nl Micrognathie CANDIDATE +en Micrographia HP:0031908 rdfs:label nl Micrographia NOT_TRANSLATED +en Microlissencephaly HP:0045028 rdfs:label nl Type III lissencefalie CANDIDATE +en Micromelia HP:0002983 rdfs:label nl Micromelie CANDIDATE +en Micronodular cirrhosis HP:0001413 rdfs:label nl Micronodulaire cirrose CANDIDATE +en Micropenis HP:0000054 rdfs:label nl Micropenis CANDIDATE +en Microphakia HP:0012376 rdfs:label nl Microfakie CANDIDATE +en Microphallus HP:0030260 rdfs:label nl Micropenis CANDIDATE +en Microphthalmia HP:0000568 rdfs:label nl Microftalmie CANDIDATE +en Microprolactinoma HP:0012341 rdfs:label nl Microprolactinoom CANDIDATE +en Microretrognathia HP:0000308 rdfs:label nl Microretrognathie CANDIDATE +en Microsaccadic pursuit HP:0007792 rdfs:label nl Microsaccadische volgbeweging CANDIDATE +en Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc HP:0008014 IAO:0000115 nl Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc NOT_TRANSLATED +en Microscopic hematuria HP:0002907 rdfs:label nl Microscopische hematurie CANDIDATE +en Microscopic hematuria detected by dipstick or microscopic examination of the urine HP:0002907 IAO:0000115 nl Microscopic hematuria detected by dipstick or microscopic examination of the urine NOT_TRANSLATED +en Microscopic nephrocalcinosis HP:0008327 rdfs:label nl Microscopische nefrocalcinose CANDIDATE +en Microspherocytosis HP:0004835 rdfs:label nl Microsferocytose CANDIDATE +en Microspherophakia HP:0030961 rdfs:label nl Microsferofakie CANDIDATE +en Microtia HP:0008551 rdfs:label nl Microtie CANDIDATE +en Microtia, first degree HP:0011266 rdfs:label nl Microtie, eerstegraads CANDIDATE +en Microtia, second degree HP:0008569 rdfs:label nl Microtie, tweedegraads CANDIDATE +en Microtia, third degree HP:0011267 rdfs:label nl Microtie, derdegraads CANDIDATE +en Microtropia HP:0031724 rdfs:label nl Microtropie CANDIDATE +en Microtropia with identity HP:0031781 rdfs:label nl Microtropia with identity NOT_TRANSLATED +en Microtropia without identity HP:0031782 rdfs:label nl Microtropia without identity NOT_TRANSLATED +en Microvesicular hepatic steatosis HP:0001414 rdfs:label nl Microvesiculaire hepatische steatose CANDIDATE +en Microvillar PAS-positive secretory granules HP:0033996 rdfs:label nl Microvillar PAS-positive secretory granules NOT_TRANSLATED +en Microvillus inclusions HP:0033995 rdfs:label nl Microvillus inclusions NOT_TRANSLATED +en Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective) HP:0000527 IAO:0000115 nl Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective) NOT_TRANSLATED +en Mid-frequency hearing loss HP:0012781 rdfs:label nl Midden-frequentie gehoorverlies CANDIDATE +en Midclavicular aplasia HP:0006638 rdfs:label nl Midclaviculaire aplasie CANDIDATE +en Midclavicular hypoplasia HP:0006608 rdfs:label nl Midclaviculaire hypoplasie CANDIDATE +en Middiastolic murmur HP:0031669 rdfs:label nl Middiasystolische souffle CANDIDATE +en Middle age onset HP:0003596 rdfs:label nl Middelbare onset CANDIDATE +en Middle cerebral artery calcification HP:0031311 rdfs:label nl Arteria cerebri media calcificatie CANDIDATE +en Middle cerebral artery stenosis HP:0012493 rdfs:label nl Arteria cerebri media stenose CANDIDATE +en Middle cerebral artery stroke HP:0033762 rdfs:label nl Middle cerebral artery stroke NOT_TRANSLATED +en Middle ear is filled with glue-like fluid instead of air HP:0040262 IAO:0000115 nl Middle ear is filled with glue-like fluid instead of air NOT_TRANSLATED +en Middle mediastinal mass HP:0033828 rdfs:label nl Middle mediastinal mass NOT_TRANSLATED +en Midface capillary hemangioma HP:0007452 rdfs:label nl Midfaciaal capillair hemangioom CANDIDATE +en Midface retrusion HP:0011800 rdfs:label nl Midfaciale retrusie CANDIDATE +en Midfrontal capillary hemangioma HP:0007466 rdfs:label nl Midfrontaal capillair hemangioom CANDIDATE +en Midgut malrotation HP:0005211 rdfs:label nl Middendarm malrotatie CANDIDATE +en Midline brain calcifications HP:0007045 rdfs:label nl Calcificaties van het brein in de middellijn CANDIDATE +en Midline brainstem cleft HP:0033645 rdfs:label nl Midline brainstem cleft NOT_TRANSLATED +en Midline central nervous system lipomas HP:0006866 rdfs:label nl Lipomen van het centrale zenuwstelsel in de middellijn CANDIDATE +en Midline defect of mandible HP:0010753 rdfs:label nl Middellijn defect van de onderkaak CANDIDATE +en Midline defect of the nose HP:0004122 rdfs:label nl Middellijn defect van de neus CANDIDATE +en Midline deficiency of the mandible and some or all overlying tissues HP:0010752 IAO:0000115 nl Midline deficiency of the mandible and some or all overlying tissues NOT_TRANSLATED +en Midline direction of ventricular apex HP:0011602 rdfs:label nl Middellijn richting van ventriculaire apex CANDIDATE +en Midline facial capillary hemangioma HP:0007601 rdfs:label nl Faciaal capillair hemangioom in de middellijn CANDIDATE +en Midline facial cleft HP:0100629 rdfs:label nl Faciale cleft in de middellijn CANDIDATE +en Midline indentation or cleft of the scrotum HP:0000048 IAO:0000115 nl Midline indentation or cleft of the scrotum NOT_TRANSLATED +en Midline liver HP:0034188 rdfs:label nl Midline liver NOT_TRANSLATED +en Midline nasal groove HP:0004112 rdfs:label nl Nasale groef in de middellijn CANDIDATE +en Midline notch of upper alveolar ridge HP:0009084 rdfs:label nl Midline notch of upper alveolar ridge NOT_TRANSLATED +en Midline sinus of philtrum HP:0011828 rdfs:label nl Midline sinus of philtrum NOT_TRANSLATED +en Midline skin dimples over anterior/posterior fontanelles HP:0005498 rdfs:label nl Midline skin dimples over anterior/posterior fontanelles NOT_TRANSLATED +en Midnasal atresia HP:0010643 rdfs:label nl Midnasale atresie CANDIDATE +en Midnasal stenosis HP:0010644 rdfs:label nl Midnasale stenose CANDIDATE +en Midperipheral HP:0030648 rdfs:label nl Midperifeer CANDIDATE +en Midshaft hypospadias HP:0012854 rdfs:label nl Midshaft hypospadie CANDIDATE +en Midsystolic murmur HP:0031665 rdfs:label nl Midsystolische souffle CANDIDATE +en Migraine HP:0002076 rdfs:label nl Migraine CANDIDATE +en Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms HP:0002076 IAO:0000115 nl Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms NOT_TRANSLATED +en Migraine with aura HP:0002077 rdfs:label nl Migraine met aura CANDIDATE +en Migraine without aura HP:0002083 rdfs:label nl Migraine zonder aura CANDIDATE +en Migrating focal seizure HP:0032786 rdfs:label nl Migrating focal seizure NOT_TRANSLATED +en Migratory HP:0025279 rdfs:label nl Migrerend CANDIDATE +en Migratory arthritis HP:0033037 rdfs:label nl Migratory arthritis NOT_TRANSLATED +en Migratory erythematous plaque HP:0033622 rdfs:label nl Migratory erythematous plaque NOT_TRANSLATED +en Mild HP:0012825 rdfs:label nl Mild CANDIDATE +en Mild albuminuria HP:0033065 rdfs:label nl Mild albuminuria NOT_TRANSLATED +en Mild conductive hearing impairment HP:0008598 rdfs:label nl Milde conductieve slechthorendheid CANDIDATE +en Mild constriction of peripheral visual field HP:0030522 rdfs:label nl Perifere gezichtsveld beperking met 50 graden centraal gespaard CANDIDATE +en Mild expressive language delay HP:0011346 rdfs:label nl Milde expressieve taalachterstand CANDIDATE +en Mild fetal ventriculomegaly HP:0010952 rdfs:label nl Milde foetale ventriculomegalie CANDIDATE +en Mild fever that does not exceed 38.5 degrees centigrade HP:0011134 IAO:0000115 nl Mild fever that does not exceed 38.5 degrees centigrade NOT_TRANSLATED +en Mild global developmental delay HP:0011342 rdfs:label nl Milde globale vertraging in de ontwikkeling CANDIDATE +en Mild hearing impairment HP:0012712 rdfs:label nl Milde slechthorendheid CANDIDATE +en Mild hypermetropia HP:0031728 rdfs:label nl Milde hypermetropie CANDIDATE +en Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69 HP:0001256 IAO:0000115 nl Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69 NOT_TRANSLATED +en Mild intrauterine growth retardation HP:0008883 rdfs:label nl Milde intra-uteriene groeiretardatie CANDIDATE +en Mild malformation of cortical development HP:0032059 rdfs:label nl Mild malformation of cortical development NOT_TRANSLATED +en Mild microcephaly HP:0040196 rdfs:label nl Milde microcefalie CANDIDATE +en Mild myopia HP:0025573 rdfs:label nl Milde myopie CANDIDATE +en Mild neurosensory hearing impairment HP:0008587 rdfs:label nl Milde perceptieve slechthorendheid CANDIDATE +en Mild postnatal growth retardation HP:0001530 rdfs:label nl Milde postnatale groeiretardatie CANDIDATE +en Mild proteinuria HP:0012595 rdfs:label nl Milde proteïnurie CANDIDATE +en Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement HP:0010945 IAO:0000115 nl Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement NOT_TRANSLATED +en Mild receptive language delay HP:0011350 rdfs:label nl Milde receptieve taalachterstand CANDIDATE +en Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) HP:0032037 IAO:0000115 nl Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation) NOT_TRANSLATED +en Mild short stature HP:0003502 rdfs:label nl Milde kleine lengte CANDIDATE +en Mildly elevated creatine kinase HP:0008180 rdfs:label nl Licht verhoogd serum creatinefosfokinase CANDIDATE +en Mildly increased levels of protein in the urine (150-500 mg per day in adults) HP:0012595 IAO:0000115 nl Mildly increased levels of protein in the urine (150-500 mg per day in adults) NOT_TRANSLATED +en Mildly reduced contrast sensitivity HP:0032108 rdfs:label nl Mildly reduced contrast sensitivity NOT_TRANSLATED +en Mildly reduced left ventricular ejection fraction HP:0012663 rdfs:label nl Mild verminderde ejectiefractie CANDIDATE +en Mildly reduced visual acuity HP:0032037 rdfs:label nl Mildly reduced visual acuity NOT_TRANSLATED +en Milia HP:0001056 rdfs:label nl Milia CANDIDATE +en Miliary HP:0033817 rdfs:label nl Miliary NOT_TRANSLATED +en Milky appearance of bronchoalveolar lavage fluid HP:0033173 rdfs:label nl Milky appearance of bronchoalveolar lavage fluid NOT_TRANSLATED +en Mineralized substance filling the entire dental pulp space HP:0006350 IAO:0000115 nl Mineralized substance filling the entire dental pulp space NOT_TRANSLATED +en Minicore myopathy HP:0003789 rdfs:label nl Minicore myopathie CANDIDATE +en Minifascicle formation HP:0031001 rdfs:label nl Minifascicle formation NOT_TRANSLATED +en Minimal change glomerulonephritis HP:0012579 rdfs:label nl Minimal change glomerulonefritis CANDIDATE +en Minimal mesangial lupus nephritis HP:0033729 rdfs:label nl Minimal mesangial lupus nephritis NOT_TRANSLATED +en Minimal subcutaneous fat HP:0003717 rdfs:label nl Minimaal subcutaan vet CANDIDATE +en Minor finding HP:0045090 rdfs:label nl Minor finding NOT_TRANSLATED +en Miosis HP:0000616 rdfs:label nl Miose CANDIDATE +en Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus HP:0011616 IAO:0000115 nl Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus NOT_TRANSLATED +en Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side HP:0011538 IAO:0000115 nl Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side NOT_TRANSLATED +en Mirror image duplication of digits affecting the feet HP:0010691 IAO:0000115 nl Mirror image duplication of digits affecting the feet NOT_TRANSLATED +en Mirror image duplication of digits affecting the hands only HP:0010690 IAO:0000115 nl Mirror image duplication of digits affecting the hands only NOT_TRANSLATED +en Mirror image foot polydactyly HP:0010691 rdfs:label nl Spiegelbeeld voet polydactylie CANDIDATE +en Mirror image hand polydactyly HP:0010690 rdfs:label nl Spiegelbeeld hand polydactylie CANDIDATE +en Mirror image polydactyly HP:0010689 rdfs:label nl Spiegelbeeld polydactylie CANDIDATE +en Misaligned incisor HP:0011062 IAO:0000115 nl Misaligned incisor NOT_TRANSLATED +en Misalignment of incisors HP:0011062 rdfs:label nl Verkeerde uitlijning van snijtanden CANDIDATE +en Misalignment of the pulmonary veins HP:0033186 rdfs:label nl Misalignment of the pulmonary veins NOT_TRANSLATED +en Miscarriage HP:0005268 rdfs:label nl Spontane abortus CANDIDATE +en Mislocalised thyroid gland HP:0100028 IAO:0000115 nl Mislocalised thyroid gland NOT_TRANSLATED +en Misophonia HP:0025113 rdfs:label nl Misofonie CANDIDATE +en Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli HP:0034004 IAO:0000115 nl Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli NOT_TRANSLATED +en Missing humerus bone associated with congenital failure of development HP:0003862 IAO:0000115 nl Missing humerus bone associated with congenital failure of development NOT_TRANSLATED +en Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) HP:0009829 IAO:0000115 nl Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) NOT_TRANSLATED +en Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) HP:0009813 IAO:0000115 nl Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia) NOT_TRANSLATED +en Missing radius bone associated with congenital failure of development HP:0003974 IAO:0000115 nl Missing radius bone associated with congenital failure of development NOT_TRANSLATED +en Missing radius bone on both sides associated with congenital failure of development HP:0004977 IAO:0000115 nl Missing radius bone on both sides associated with congenital failure of development NOT_TRANSLATED +en Missing radius bone on one side only associated with congenital failure of development HP:0011908 IAO:0000115 nl Missing radius bone on one side only associated with congenital failure of development NOT_TRANSLATED +en Missing ribs HP:0000921 rdfs:label nl Ontbrekende ribben CANDIDATE +en Missing ulna bone associated with congenital failure of development HP:0003982 IAO:0000115 nl Missing ulna bone associated with congenital failure of development NOT_TRANSLATED +en Mitochondrial depletion HP:0030059 rdfs:label nl Mitochondriale uitputting CANDIDATE +en Mitochondrial encephalopathy HP:0006789 rdfs:label nl Mitochondriale encefalopathie CANDIDATE +en Mitochondrial hypertrophy HP:0033686 rdfs:label nl Mitochondrial hypertrophy NOT_TRANSLATED +en Mitochondrial inheritance HP:0001427 rdfs:label nl Mitochondriële overerving CANDIDATE +en Mitochondrial lysine transport defect HP:0008265 rdfs:label nl Mitochondriaal lysine transport defect CANDIDATE +en Mitochondrial malic enzyme reduced HP:0003232 rdfs:label nl Mitochondrial malic enzyme reduced NOT_TRANSLATED +en Mitochondrial myopathy HP:0003737 rdfs:label nl Mitochondriale myopathie CANDIDATE +en Mitochondrial propionyl-CoA carboxylase defect HP:0003288 rdfs:label nl Mitochondriaal propionyl-CoA carboxylase defect CANDIDATE +en Mitochondrial respiratory chain defects HP:0200125 rdfs:label nl Mitochondriale respiratoire keten defecten CANDIDATE +en Mitochondrial swelling HP:0030774 rdfs:label nl Mitochondriale zwelling CANDIDATE +en Mitral annular calcification HP:0005136 rdfs:label nl Mitrale annulaire verkalking CANDIDATE +en Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus HP:0005136 IAO:0000115 nl Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus NOT_TRANSLATED +en Mitral atresia HP:0011560 rdfs:label nl Mitralisklep atresie CANDIDATE +en Mitral chordae tendinae rupture HP:0034419 rdfs:label nl Mitral chordae tendinae rupture NOT_TRANSLATED +en Mitral regurgitation HP:0001653 rdfs:label nl Mitralisklep regurgitatie CANDIDATE +en Mitral stenosis HP:0001718 rdfs:label nl Mitralisstenose CANDIDATE +en Mitral stenosis with congenital onset HP:0011570 IAO:0000115 nl Mitral stenosis with congenital onset NOT_TRANSLATED +en Mitral valve arcade HP:0011564 rdfs:label nl Mitral valve arcade NOT_TRANSLATED +en Mitral valve calcification HP:0004382 rdfs:label nl Mitralisklep calcificatie CANDIDATE +en Mitral valve leaflet calcification HP:0033642 rdfs:label nl Mitral valve leaflet calcification NOT_TRANSLATED +en Mitral valve prolapse HP:0001634 rdfs:label nl Mitralisklepprolaps CANDIDATE +en Mitten deformity HP:0004057 rdfs:label nl Mitten deformity NOT_TRANSLATED +en Mixed astigmatism HP:0031790 rdfs:label nl Mixed astigmatism NOT_TRANSLATED +en Mixed cirrhosis HP:0011005 rdfs:label nl Gemengde cirrose CANDIDATE +en Mixed demyelinating and axonal polyneuropathy HP:0007327 rdfs:label nl Gemengde demyeliniserende- en axonale polyneuropathie CANDIDATE +en Mixed hearing impairment HP:0000410 rdfs:label nl Gemengde slechthorendheid CANDIDATE +en Mixed hypo- and hyperpigmentation of the skin HP:0009123 rdfs:label nl Gemengde hypo- en hyperpigmentatie van de huid CANDIDATE +en Mixed respiratory and metabolic acidosis HP:0005967 rdfs:label nl Gemengde respiratoire en metabole acidose CANDIDATE +en Mixed sclerosis of humeral metaphyses HP:0005825 rdfs:label nl Gemengde sclerose van metafysen van humerus CANDIDATE +en Mixed total anomalous pulmonary venous connection HP:0011722 rdfs:label nl Mixed total anomalous pulmonary venous connection NOT_TRANSLATED +en Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney HP:0033898 IAO:0000115 nl Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney NOT_TRANSLATED +en Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney HP:0033877 IAO:0000115 nl Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney NOT_TRANSLATED +en Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney HP:0033894 IAO:0000115 nl Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney NOT_TRANSLATED +en Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney HP:0033873 IAO:0000115 nl Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney NOT_TRANSLATED +en Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney HP:0033870 IAO:0000115 nl Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney NOT_TRANSLATED +en Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney HP:0033857 IAO:0000115 nl Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney NOT_TRANSLATED +en Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney HP:0033950 IAO:0000115 nl Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney NOT_TRANSLATED +en Mizuo phenomenon HP:0030824 rdfs:label nl Mizuo fenomeen CANDIDATE +en Mobitz I atrioventricular block HP:0011707 rdfs:label nl Mobitz I atrioventriculair blok CANDIDATE +en Mobitz II atrioventricular block HP:0011708 rdfs:label nl Mobitz II atrioventriculair blok CANDIDATE +en Mode of inheritance HP:0000005 rdfs:label nl Overervingspatroon CANDIDATE +en Moderate HP:0012826 rdfs:label nl Matig CANDIDATE +en Moderate albuminuria HP:0012594 rdfs:label nl Microalbuminurie CANDIDATE +en Moderate anterior chamber flare (iris and lens details clear) HP:0031619 IAO:0000115 nl Moderate anterior chamber flare (iris and lens details clear) NOT_TRANSLATED +en Moderate conductive hearing impairment HP:0012716 rdfs:label nl Matige conductieve slechthorendheid CANDIDATE +en Moderate constriction of peripheral visual field HP:0030525 rdfs:label nl Perifere gezichtsveld beperking met 20-30 graden centraal gespaard CANDIDATE +en Moderate expressive language delay HP:0011345 rdfs:label nl Matige expressieve taalachterstand CANDIDATE +en Moderate generalized osteoporosis HP:0005653 rdfs:label nl Matig gegeneraliseerde osteoporose CANDIDATE +en Moderate global developmental delay HP:0011343 rdfs:label nl Matige globale vertraging in de ontwikkeling CANDIDATE +en Moderate hearing impairment HP:0012713 rdfs:label nl Matige slechthorendheid CANDIDATE +en Moderate hypermetropia HP:0031729 rdfs:label nl Matige hypermetropie CANDIDATE +en Moderate intrauterine growth retardation HP:0011408 rdfs:label nl Matige intra-uteriene groeiretardatie CANDIDATE +en Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49 HP:0002342 IAO:0000115 nl Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49 NOT_TRANSLATED +en Moderate myopia HP:0031624 rdfs:label nl Matige myopie CANDIDATE +en Moderate osteoporosis HP:0005653 IAO:0000115 nl Moderate osteoporosis NOT_TRANSLATED +en Moderate postnatal growth retardation HP:0008855 rdfs:label nl Matige postnatale groeiretardatie CANDIDATE +en Moderate proteinuria HP:0012596 rdfs:label nl Matige proteïnurie CANDIDATE +en Moderate receptive language delay HP:0011351 rdfs:label nl Matige receptieve taalachterstand CANDIDATE +en Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) HP:0030515 IAO:0000115 nl Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation) NOT_TRANSLATED +en Moderate sensorineural hearing impairment HP:0008504 rdfs:label nl Matig perceptieve slechthorendheid CANDIDATE +en Moderate to late preterm birth HP:0025664 rdfs:label nl Moderate to late preterm birth NOT_TRANSLATED +en Moderately increased levels of protein in the urine (500-1000 mg per day in adults) HP:0012596 IAO:0000115 nl Moderately increased levels of protein in the urine (500-1000 mg per day in adults) NOT_TRANSLATED +en Moderately reduced contrast sensitivity HP:0032109 rdfs:label nl Moderately reduced contrast sensitivity NOT_TRANSLATED +en Moderately reduced left ventricular ejection fraction HP:0012665 rdfs:label nl Matig verminderde ejectiefractie CANDIDATE +en Moderately reduced visual acuity HP:0030515 rdfs:label nl Matige visuele beperking CANDIDATE +en Moderately short stature HP:0008848 rdfs:label nl Matig kleine lengte CANDIDATE +en Modic type I vertebral endplate changes HP:0030776 rdfs:label nl Modic type I vertebrale eindplaat veranderingen CANDIDATE +en Modic type II vertebral endplate changes HP:0030777 rdfs:label nl Modic type II vertebrale eindplaat veranderingen CANDIDATE +en Modic type III vertebral endplate changes HP:0030778 rdfs:label nl Modic type III vertebrale eindplaat veranderingen CANDIDATE +en Modic type vertebral endplate changes HP:0030775 rdfs:label nl Modic type vertebrale eindplaat veranderingen CANDIDATE +en Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars HP:0033783 IAO:0000115 nl Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars NOT_TRANSLATED +en Molar incisor malformation HP:0033783 rdfs:label nl Molar incisor malformation NOT_TRANSLATED +en Molar tooth sign on MRI HP:0002419 rdfs:label nl Molar tooth sign op MRI CANDIDATE +en Molarization of premolar HP:0011093 rdfs:label nl Molarisatie van premolaar CANDIDATE +en Molluscoid pseudotumors HP:0000993 rdfs:label nl Molluscoïde pseudotumoren CANDIDATE +en Molluscum contagiosum HP:0032163 rdfs:label nl Molluscum contagiosum NOT_TRANSLATED +en Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state HP:0032163 IAO:0000115 nl Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state NOT_TRANSLATED +en Molybdenum cofactor deficiency HP:0003570 rdfs:label nl Molybdeen co-factor deficiëntie CANDIDATE +en Mongolian blue spot HP:0011369 rdfs:label nl Mongolenvlek CANDIDATE +en Monilethrix HP:0032470 rdfs:label nl Monilethrix NOT_TRANSLATED +en Monkey wrench femoral neck HP:0033102 rdfs:label nl Monkey wrench femoral neck NOT_TRANSLATED +en Monochromacy HP:0007803 rdfs:label nl Monochromacy CANDIDATE +en Monoclonal elevation of IgG HP:0032290 rdfs:label nl Monoclonal elevation of IgG NOT_TRANSLATED +en Monoclonal elevation of IgG heavy chain HP:0032293 rdfs:label nl Monoclonal elevation of IgG heavy chain NOT_TRANSLATED +en Monoclonal elevation of IgG kappa chain HP:0032294 rdfs:label nl Monoclonal elevation of IgG kappa chain NOT_TRANSLATED +en Monoclonal elevation of IgG lambda chain HP:0032295 rdfs:label nl Monoclonal elevation of IgG lambda chain NOT_TRANSLATED +en Monoclonal elevation of IgG light chain HP:0032292 rdfs:label nl Monoclonal elevation of IgG light chain NOT_TRANSLATED +en Monoclonal elevation of circulating IgA HP:0032335 rdfs:label nl Monoclonal elevation of circulating IgA NOT_TRANSLATED +en Monoclonal elevation of circulating IgE HP:0032337 rdfs:label nl Monoclonal elevation of circulating IgE NOT_TRANSLATED +en Monoclonal elevation of intact IgG HP:0032291 rdfs:label nl Monoclonal elevation of intact IgG NOT_TRANSLATED +en Monoclonal immunoglobulin M proteinemia HP:0005508 rdfs:label nl Monoclonale immunoglobuline M proteinemie CANDIDATE +en Monoclonal light chain cardiac amyloidosis HP:0031326 rdfs:label nl Monoclonal light chain cardiac amyloidosis NOT_TRANSLATED +en Monocular horizontal nystagmus HP:0007747 rdfs:label nl Monoculaire horizontale nystagmus CANDIDATE +en Monocular strabismus HP:0010877 rdfs:label nl Unilateraal strabismus CANDIDATE +en Monocytopenia HP:0012312 rdfs:label nl Monocytopenie CANDIDATE +en Monocytosis HP:0012311 rdfs:label nl Monocytose CANDIDATE +en Monomorphic ventricular tachycardia HP:0031676 rdfs:label nl Monomorfische ventriculaire tachycardie CANDIDATE +en Monomorphic vesicular eruption HP:0033698 rdfs:label nl Monomorphic vesicular eruption NOT_TRANSLATED +en Mononeuropathy HP:0009831 rdfs:label nl Mononeuropathie CANDIDATE +en Monorchism HP:0030868 rdfs:label nl Monorchisme CANDIDATE +en Monostotic fibrous dysplasia HP:0010736 rdfs:label nl Monostotische fibreuze dysplasie CANDIDATE +en Monotonic speech HP:0031435 rdfs:label nl Monotonische spraak CANDIDATE +en Moon facies HP:0500011 rdfs:label nl Maangezicht CANDIDATE +en Morbilliform HP:0025296 rdfs:label nl Morbilliform CANDIDATE +en Morbilliform rash HP:0012282 rdfs:label nl Morbilliforme uitslag CANDIDATE +en Morbus Kienboeck HP:0010889 rdfs:label nl Morbus Kienbock CANDIDATE +en Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum HP:0010889 IAO:0000115 nl Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum NOT_TRANSLATED +en Morbus Koehler HP:0010888 rdfs:label nl Morbus Köhler CANDIDATE +en Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis HP:0010888 IAO:0000115 nl Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis NOT_TRANSLATED +en Morbus Osgood-Schlatter HP:0010890 rdfs:label nl Morbus Osgood-Schlatter CANDIDATE +en Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae HP:0010890 IAO:0000115 nl Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae NOT_TRANSLATED +en Morbus Scheuermann HP:0010891 rdfs:label nl Morbus Scheuermann CANDIDATE +en More pronounced paramedian peaks and median notch of the Cupid's bow HP:0002263 IAO:0000115 nl More pronounced paramedian peaks and median notch of the Cupid's bow NOT_TRANSLATED +en More than one fracture of the ribs HP:0006640 IAO:0000115 nl More than one fracture of the ribs NOT_TRANSLATED +en More than two clockwise hair whorls HP:0010813 IAO:0000115 nl More than two clockwise hair whorls NOT_TRANSLATED +en Morgagni diaphragmatic hernia HP:0025194 rdfs:label nl Hernia van Morgagni CANDIDATE +en Morning glory anomaly HP:0025514 rdfs:label nl Morning glory anomalie CANDIDATE +en Morning myoclonic jerks HP:0007000 rdfs:label nl Myoclonische schokken in de ochtend CANDIDATE +en Morphea HP:0012344 rdfs:label nl Morfea CANDIDATE +en Morphological abnormality of the anterior semicircular canal HP:0040108 rdfs:label nl Morfologische afwijking van het anterieure semicirculaire kanaal CANDIDATE +en Morphological abnormality of the corticospinal tract HP:0002492 rdfs:label nl Afwijking van de corticospinale banen CANDIDATE +en Morphological abnormality of the gastrointestinal tract HP:0012718 rdfs:label nl Morfologische afwijking van het gastro-instestinale stelsel CANDIDATE +en Morphological abnormality of the inner ear HP:0011390 rdfs:label nl Morfologische afwijkingen van het binnenoor CANDIDATE +en Morphological abnormality of the lateral semicircular canal HP:0040106 rdfs:label nl Morfologische afwijkingen van het laterale semicirculaire kanaal CANDIDATE +en Morphological abnormality of the middle ear HP:0008609 rdfs:label nl Morfologische afwijking van het middenoor CANDIDATE +en Morphological abnormality of the nerves of the inner ear HP:0011391 rdfs:label nl Morfologische afwijking van de zenuwen van het binnenoor CANDIDATE +en Morphological abnormality of the papillary muscles HP:0025445 rdfs:label nl Morfologische afwijking van de papillairspieren CANDIDATE +en Morphological abnormality of the posterior semicircular canal HP:0040107 rdfs:label nl Morfologische afwijkingen van het posterieure semicirculaire kanaal CANDIDATE +en Morphological abnormality of the pyramidal tract HP:0002062 rdfs:label nl Morfologische afwijking van de piramidebaan CANDIDATE +en Morphological abnormality of the saccule HP:0040110 rdfs:label nl Morfologische afwijking van de sacculus CANDIDATE +en Morphological abnormality of the semicircular canal HP:0011380 rdfs:label nl Morfologische afwijkingen van het semicirculaire kanaal CANDIDATE +en Morphological abnormality of the utricle HP:0040109 rdfs:label nl Morfologische afwijkingen van de utriculus CANDIDATE +en Morphological abnormality of the vestibule of the inner ear HP:0011376 rdfs:label nl Morfologische afwijking van het vestibulum van het binnenoor CANDIDATE +en Morphological central nervous system abnormality HP:0002011 rdfs:label nl Morfologische afwijking van het centrale zenuwstelsel CANDIDATE +en Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat HP:0200036 IAO:0000115 nl Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat NOT_TRANSLATED +en Mortality/Aging HP:0040006 rdfs:label nl Mortaliteit/veroudering CANDIDATE +en Mosaic attenuation pattern on pulmonary HRCT HP:0025397 rdfs:label nl Mosaic attenuation pattern on pulmonary HRCT NOT_TRANSLATED +en Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging HP:0033537 IAO:0000115 nl Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging NOT_TRANSLATED +en Mosaic central corneal dystrophy HP:0100690 rdfs:label nl Mozaïek centrale cornea dystrofie CANDIDATE +en Mosaic corneal dystrophy HP:0007836 rdfs:label nl Mozaïek cornea dystrofie CANDIDATE +en Mosaic pulmonary attenuation pattern HP:0033537 rdfs:label nl Mosaic pulmonary attenuation pattern NOT_TRANSLATED +en Motheaten muscle fibers HP:0100298 rdfs:label nl Motheaten spiervezels CANDIDATE +en Motor axonal neuropathy HP:0007002 rdfs:label nl Motore axonale neuropathie CANDIDATE +en Motor conduction block HP:0012078 rdfs:label nl Motor conduction block NOT_TRANSLATED +en Motor delay HP:0001270 rdfs:label nl Motorische achterstand CANDIDATE +en Motor deterioration HP:0002333 rdfs:label nl Motore achteruitgang CANDIDATE +en Motor hyperactivity with excessive movement of muscles of the body as a whole HP:0002487 IAO:0000115 nl Motor hyperactivity with excessive movement of muscles of the body as a whole NOT_TRANSLATED +en Motor impersistence HP:0040200 rdfs:label nl Motor impersistence NOT_TRANSLATED +en Motor neuron atrophy HP:0007373 rdfs:label nl Motor neuron atrofie CANDIDATE +en Motor polyneuropathy HP:0007178 rdfs:label nl Motore polyneuropathie CANDIDATE +en Motor regression HP:0033044 rdfs:label nl Motor regression NOT_TRANSLATED +en Motor seizure HP:0020219 rdfs:label nl Motor seizure NOT_TRANSLATED +en Motor stereotypy HP:0000733 rdfs:label nl Stereotypie CANDIDATE +en Motor tics HP:0100034 rdfs:label nl Motorische tics CANDIDATE +en Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea HP:0007793 IAO:0000115 nl Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea NOT_TRANSLATED +en Mottled pigmentation HP:0001070 rdfs:label nl Gevlekt pigmentatie CANDIDATE +en Mottled pigmentation of photoexposed areas HP:0007511 rdfs:label nl Gevlekte pigmentatie van de aan zon blootgestelde gebieden CANDIDATE +en Mottled pigmentation of the trunk and proximal extremities HP:0007438 rdfs:label nl Gevlekte pigmentatie van de romp en proximale ledematen CANDIDATE +en Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium HP:0007814 IAO:0000115 nl Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium NOT_TRANSLATED +en Movement abnormality of the tongue HP:0000182 rdfs:label nl Afwijking van de beweging van de tong CANDIDATE +en Movement-based tics affecting discrete muscle groups HP:0100034 IAO:0000115 nl Movement-based tics affecting discrete muscle groups NOT_TRANSLATED +en Moyamoya phenomenon HP:0011834 rdfs:label nl Moyamoya syndroom CANDIDATE +en Mozart ear HP:0030677 rdfs:label nl Mozart-oor CANDIDATE +en Mucin casts HP:0025698 rdfs:label nl Mucin casts NOT_TRANSLATED +en Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma HP:0031496 IAO:0000115 nl Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma NOT_TRANSLATED +en Mucinous colorectal carcinoma HP:0031497 rdfs:label nl Mucineus colorectaalcarcinoom CANDIDATE +en Mucinous cystic neoplasm of the pancreas HP:0031496 rdfs:label nl Mucineus cysteus neoplasma van de pancreas CANDIDATE +en Mucinous gastric carcinoma HP:0031498 rdfs:label nl Mucineus maagcarcinoom CANDIDATE +en Mucinous histiocytosis HP:0040138 rdfs:label nl Mucineuze histiocytose CANDIDATE +en Mucinous neoplasm HP:0031495 rdfs:label nl Mucineus neoplasma CANDIDATE +en Mucoid diarrhea HP:0033343 rdfs:label nl Mucoid diarrhea NOT_TRANSLATED +en Mucoid extracellular matrix accumulation HP:0200146 rdfs:label nl Cysteuze mediale necrose van de aorta CANDIDATE +en Mucopolysacchariduria HP:0008155 rdfs:label nl Mucopolysaccharidurie CANDIDATE +en Mucosal telangiectasiae HP:0100579 rdfs:label nl Mucosale telangiëctasie CANDIDATE +en Mucus plug HP:0025695 rdfs:label nl Mucus plug NOT_TRANSLATED +en Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection HP:0025695 IAO:0000115 nl Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection NOT_TRANSLATED +en Mulberry molar HP:0011092 rdfs:label nl Mulberry molaar CANDIDATE +en Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry HP:0011092 IAO:0000115 nl Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry NOT_TRANSLATED +en Multicentric femoral head ossification HP:0008835 rdfs:label nl Multicentrische femurkop ossificatie CANDIDATE +en Multicentric ossification of proximal femoral epiphyses HP:0006450 rdfs:label nl Multicentrische ossificatie van proximale epifysen van femur CANDIDATE +en Multicentric ossification of proximal humeral epiphyses HP:0004997 rdfs:label nl Multicentrische ossificatie van proximale epifsyen van humerus CANDIDATE +en Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional HP:0000003 IAO:0000115 nl Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional NOT_TRANSLATED +en Multicystic kidney dysplasia HP:0000003 rdfs:label nl Multicysteuze nierdysplasie CANDIDATE +en Multidrug-resistant nephrotic syndrome HP:0012589 rdfs:label nl Multiresistent nefrotisch syndroom CANDIDATE +en Multifactorial inheritance HP:0001426 rdfs:label nl Multifactoriële overerving CANDIDATE +en Multiflagellar spermatozoa HP:0034309 rdfs:label nl Multiflagellar spermatozoa NOT_TRANSLATED +en Multifocal HP:0030651 rdfs:label nl Multifocaal CANDIDATE +en Multifocal atrial tachycardia HP:0011701 rdfs:label nl Multifocale atriale tachycardie CANDIDATE +en Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic HP:0011701 IAO:0000115 nl Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic NOT_TRANSLATED +en Multifocal breast carcinoma HP:0006625 rdfs:label nl Multifocaal mammacarcinoom CANDIDATE +en Multifocal cerebral white matter abnormalities HP:0007052 rdfs:label nl Multifocale cerebrale wittestofafwijkingen CANDIDATE +en Multifocal dense infiltrates of mast cells in cutaneous tissue HP:0200151 IAO:0000115 nl Multifocal dense infiltrates of mast cells in cutaneous tissue NOT_TRANSLATED +en Multifocal epileptiform discharges HP:0010841 rdfs:label nl Multifocale epileptiforme ontladingen CANDIDATE +en Multifocal hyperintensity of cerebral white matter on MRI HP:0040329 rdfs:label nl Multifocale hyperintensiteit van cerebrale witte stof op MRI CANDIDATE +en Multifocal hypointensity of cerebral white matter on MRI HP:0040332 rdfs:label nl Multifocale hypointensiteit van cerebrale witte stof op MRI CANDIDATE +en Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs HP:0032827 IAO:0000115 nl Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs NOT_TRANSLATED +en Multifocal neonatal sequential seizure HP:0032827 rdfs:label nl Multifocal neonatal sequential seizure NOT_TRANSLATED +en Multifocal seizures HP:0031165 rdfs:label nl Multifocale aanvallen CANDIDATE +en Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) HP:0010844 IAO:0000115 nl Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG) NOT_TRANSLATED +en Multifocal splenic abscess HP:0025060 rdfs:label nl Multifocale milt abcessen CANDIDATE +en Multifocal sub-RPE deposits HP:0031533 rdfs:label nl Multifocale sub-RPE deposities CANDIDATE +en Multifocal subretinal deposits HP:0031530 rdfs:label nl Multifocale subretinale deposities CANDIDATE +en Multilamellation of cortical peritubular capillary basement membranes HP:0033861 rdfs:label nl Multilamellation of cortical peritubular capillary basement membranes NOT_TRANSLATED +en Multilamellation of medullary peritubular capillary basement membranes HP:0033867 rdfs:label nl Multilamellation of medullary peritubular capillary basement membranes NOT_TRANSLATED +en Multilobulated spleen HP:0020186 rdfs:label nl Multilobulated spleen NOT_TRANSLATED +en Multinodular goiter HP:0005987 rdfs:label nl Multinodulair struma CANDIDATE +en Multinucleated erythroblast HP:0034278 rdfs:label nl Multinucleated erythroblast NOT_TRANSLATED +en Multinucleated giant chondrocytes in epiphyseal cartilage HP:0030330 rdfs:label nl Multinucleated giant chondrocytes in epiphyseal cartilage NOT_TRANSLATED +en Multinucleated neuron HP:4000150 rdfs:label nl Multinucleated neuron NOT_TRANSLATED +en Multinucleated visceral epithelial cells HP:0033297 rdfs:label nl Multinucleated visceral epithelial cells NOT_TRANSLATED +en Multinucleation of renal tubular epithelial cells HP:0032601 rdfs:label nl Multinucleation of renal tubular epithelial cells NOT_TRANSLATED +en Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen HP:0200063 IAO:0000115 nl Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen NOT_TRANSLATED +en Multiple abscess lesions in the spleen HP:0025060 IAO:0000115 nl Multiple abscess lesions in the spleen NOT_TRANSLATED +en Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles HP:0012794 IAO:0000115 nl Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles NOT_TRANSLATED +en Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter HP:0007321 IAO:0000115 nl Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter NOT_TRANSLATED +en Multiple bent (flexed) finger joints that cannot be straightened actively or passively HP:0005879 IAO:0000115 nl Multiple bent (flexed) finger joints that cannot be straightened actively or passively NOT_TRANSLATED +en Multiple bilateral congenital hypertrophy of retinal pigment epithelium HP:0011529 rdfs:label nl Multipele bilaterale congenitale hypertrofie van retina pigment epitheel CANDIDATE +en Multiple bilateral pneumothoraces HP:0005939 rdfs:label nl Multipele bilaterale pneumothoraces CANDIDATE +en Multiple biliary hamartomas HP:0025519 rdfs:label nl Multipele biliaire hamartomas CANDIDATE +en Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver HP:0025519 IAO:0000115 nl Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver NOT_TRANSLATED +en Multiple bladder diverticula HP:0012619 rdfs:label nl Multipele blaas divertikels CANDIDATE +en Multiple bony cystic lesions HP:0012065 rdfs:label nl Multipele benige cysteuze laesies CANDIDATE +en Multiple cafe-au-lait spots HP:0007565 rdfs:label nl Multipele café-au-lait vlekken CANDIDATE +en Multiple carpal ossification centers HP:0006067 rdfs:label nl Multipele centra van carpale ossificatie CANDIDATE +en Multiple central nervous system lipomas HP:0100251 rdfs:label nl Lipomen van het centrale zenuwstelsel CANDIDATE +en Multiple circumscribed bony excrescences located in the ribs HP:0000896 IAO:0000115 nl Multiple circumscribed bony excrescences located in the ribs NOT_TRANSLATED +en Multiple congenital contractures in different body areas HP:0002804 IAO:0000115 nl Multiple congenital contractures in different body areas NOT_TRANSLATED +en Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus HP:0030952 IAO:0000115 nl Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus NOT_TRANSLATED +en Multiple cutaneous leiomyomas HP:0007437 rdfs:label nl Multipele cutane leiomyomen CANDIDATE +en Multiple cutaneous malignancies HP:0007606 rdfs:label nl Multipele cutane maligniteiten CANDIDATE +en Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris HP:0500007 IAO:0000115 nl Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris NOT_TRANSLATED +en Multiple defects in the atrial septum HP:0031017 IAO:0000115 nl Multiple defects in the atrial septum NOT_TRANSLATED +en Multiple digital exostoses HP:0005655 rdfs:label nl Multipele digitale exostosen CANDIDATE +en Multiple enchondromatosis HP:0005701 rdfs:label nl Multipele enchondromatose CANDIDATE +en Multiple epiphyseal dysplasia HP:0002654 rdfs:label nl Multipele epifysaire dysplasie CANDIDATE +en Multiple exostoses HP:0002762 rdfs:label nl Multipele exostosen CANDIDATE +en Multiple exostoses originating in long bones HP:0005039 IAO:0000115 nl Multiple exostoses originating in long bones NOT_TRANSLATED +en Multiple exostoses originating in the fingers and toes HP:0005655 IAO:0000115 nl Multiple exostoses originating in the fingers and toes NOT_TRANSLATED +en Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm HP:0025476 IAO:0000115 nl Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm NOT_TRANSLATED +en Multiple gastric polyps HP:0004394 rdfs:label nl Multipele maagpoliepen CANDIDATE +en Multiple glomerular cysts HP:0100611 rdfs:label nl Multipele glomerulaire cysten CANDIDATE +en Multiple impacted teeth HP:0001571 rdfs:label nl Multipele aangetaste tanden CANDIDATE +en Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour HP:0000180 IAO:0000115 nl Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour NOT_TRANSLATED +en Multiple intestinal neurofibromatosis HP:0005220 rdfs:label nl Multipele intestinale neurofibromatose CANDIDATE +en Multiple joint contractures HP:0002828 rdfs:label nl Contracturen van multipele gewrichten CANDIDATE +en Multiple joint dislocation HP:0012095 rdfs:label nl Multipele gewrichts dislocatie CANDIDATE +en Multiple lentigines HP:0001003 rdfs:label nl Multipele lentigines CANDIDATE +en Multiple lineage myelodysplasia HP:0012148 rdfs:label nl Myelodysplasie van multipele cellijnen CANDIDATE +en Multiple lipomas HP:0001012 rdfs:label nl Multipele lipomen CANDIDATE +en Multiple long-bone exostoses HP:0005039 rdfs:label nl Multipele lange-bot exostosen CANDIDATE +en Multiple meningiomas HP:0033714 rdfs:label nl Multiple meningiomas NOT_TRANSLATED +en Multiple mitochondrial DNA deletions HP:0003689 rdfs:label nl Multipele deleties in mitochondriaal DNA CANDIDATE +en Multiple mononeuropathy HP:0032018 rdfs:label nl Multiple mononeuropathy NOT_TRANSLATED +en Multiple mucosal neuromas HP:0031023 rdfs:label nl Multipele mucosale neuromen CANDIDATE +en Multiple muscular ventricular septal defects HP:0011625 rdfs:label nl Multipele musculaire ventrikelseptumdefecten CANDIDATE +en Multiple myeloma HP:0006775 rdfs:label nl Multipel myeloom CANDIDATE +en Multiple neurofibromas of the spinal nerve roots with a symmetric distribution HP:0006851 IAO:0000115 nl Multiple neurofibromas of the spinal nerve roots with a symmetric distribution NOT_TRANSLATED +en Multiple non-erupting secondary teeth HP:0006321 rdfs:label nl Multipele niet-doorgekomen secundaire tanden CANDIDATE +en Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath HP:0031023 IAO:0000115 nl Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath NOT_TRANSLATED +en Multiple palmar creases HP:0006114 rdfs:label nl Multipele handlijnen CANDIDATE +en Multiple pancreatic beta-cell adenomas HP:0008194 rdfs:label nl Multipele pancreatische beta-cell adenomen CANDIDATE +en Multiple pigmented macules located on the skin of the penis HP:0031447 IAO:0000115 nl Multiple pigmented macules located on the skin of the penis NOT_TRANSLATED +en Multiple plantar creases HP:0008113 rdfs:label nl Multipele voetlijnen CANDIDATE +en Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter HP:0030081 IAO:0000115 nl Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter NOT_TRANSLATED +en Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps HP:0033769 IAO:0000115 nl Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps NOT_TRANSLATED +en Multiple prenatal fractures HP:0005855 rdfs:label nl Multipele prenatale fracturen CANDIDATE +en Multiple pterygia HP:0001040 rdfs:label nl Multipele pterygia CANDIDATE +en Multiple pulmonary cysts HP:0005948 rdfs:label nl Cysteuze longziekte CANDIDATE +en Multiple pulmonary interstitial hyalinized nodules HP:0033248 rdfs:label nl Multiple pulmonary interstitial hyalinized nodules NOT_TRANSLATED +en Multiple pupils HP:0011500 IAO:0000115 nl Multiple pupils NOT_TRANSLATED +en Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding HP:0025552 IAO:0000115 nl Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding NOT_TRANSLATED +en Multiple renal cysts HP:0005562 rdfs:label nl Multipele niercysten CANDIDATE +en Multiple rib fractures HP:0006640 rdfs:label nl Multipele rib fracturen CANDIDATE +en Multiple rows of eyelashes HP:0008496 rdfs:label nl Multipele rijen van wimpers CANDIDATE +en Multiple skeletal anomalies HP:0005775 rdfs:label nl Multipele skelet anomalieën CANDIDATE +en Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities HP:0032215 IAO:0000115 nl Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities NOT_TRANSLATED +en Multiple small bowel atresias HP:0004797 rdfs:label nl Multipele dunne darm atresieën CANDIDATE +en Multiple small medullary renal cysts HP:0008659 rdfs:label nl Multipele kleine medullaire niercysten CANDIDATE +en Multiple small vertebral fractures HP:0005877 rdfs:label nl Multipele kleine vertebrale fracturen CANDIDATE +en Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers HP:0003789 IAO:0000115 nl Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers NOT_TRANSLATED +en Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers HP:0003787 IAO:0000115 nl Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers NOT_TRANSLATED +en Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone HP:0040138 IAO:0000115 nl Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone NOT_TRANSLATED +en Multiple suture craniosynostosis HP:0011324 rdfs:label nl Craniosynostose van multipele suturen CANDIDATE +en Multiple trichilemmomata HP:0012846 rdfs:label nl Multipele trichilemmomen CANDIDATE +en Multiple unerupted teeth HP:0006283 rdfs:label nl Multipele niet-doorgekomen tanden CANDIDATE +en Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) HP:0033004 IAO:0000115 nl Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) NOT_TRANSLATED +en Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) HP:0033005 IAO:0000115 nl Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV) NOT_TRANSLATED +en Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles HP:0031448 IAO:0000115 nl Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles NOT_TRANSLATED +en Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities) HP:0012035 IAO:0000115 nl Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities) NOT_TRANSLATED +en Muscle abnormality related to mitochondrial dysfunction HP:0003800 rdfs:label nl Spierafwijking vanwege mitochondriale dysfunctie CANDIDATE +en Muscle eosinophilia HP:0032019 rdfs:label nl Muscle eosinophilia NOT_TRANSLATED +en Muscle fiber actin filament accumulation HP:0025200 rdfs:label nl Spiervezel actine-filament accumulatie CANDIDATE +en Muscle fiber atrophy HP:0100295 rdfs:label nl Spiervezelatrofie CANDIDATE +en Muscle fiber cytoplasmatic inclusion bodies HP:0100303 rdfs:label nl Spiervezel cytoplasmatische inclusielichaampjes CANDIDATE +en Muscle fiber fuchsinophilic inclusion bodies HP:0034519 rdfs:label nl Muscle fiber fuchsinophilic inclusion bodies NOT_TRANSLATED +en Muscle fiber hyaline bodies HP:0100306 rdfs:label nl Spiervezel hyaline inclusielichaampjes CANDIDATE +en Muscle fiber inclusion bodies HP:0100299 rdfs:label nl Spiervezel inclusielichaampjes CANDIDATE +en Muscle fiber intracytoplasmic reducing inclusion bodies HP:0034320 rdfs:label nl Muscle fiber intracytoplasmic reducing inclusion bodies NOT_TRANSLATED +en Muscle fiber intranuclear inclusion bodies HP:0100304 rdfs:label nl Spiervezel intranucleaire inclusielichaampjes CANDIDATE +en Muscle fiber necrosis HP:0003713 rdfs:label nl Spiervezel necrose CANDIDATE +en Muscle fiber splitting HP:0003555 rdfs:label nl Splitsende spiervezel CANDIDATE +en Muscle fiber tubular inclusions HP:0100301 rdfs:label nl Spiervezel tubulaire inclusies CANDIDATE +en Muscle fiber tubuloreticular inclusions HP:0100302 rdfs:label nl Spiervezel tubuloreticulaire inclusielichaampjes CANDIDATE +en Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner HP:0031542 IAO:0000115 nl Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner NOT_TRANSLATED +en Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers HP:0012548 IAO:0000115 nl Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers NOT_TRANSLATED +en Muscle fibrillation HP:0010546 rdfs:label nl Spier fibrillatie CANDIDATE +en Muscle flaccidity HP:0010547 rdfs:label nl Spier slapheid CANDIDATE +en Muscle hemorrhage HP:0040242 rdfs:label nl Spierbloeding CANDIDATE +en Muscle hyperirritability HP:0003559 rdfs:label nl Spier hyperirritabiliteit CANDIDATE +en Muscle hypertrophy affecting the calf muscles HP:0008981 IAO:0000115 nl Muscle hypertrophy affecting the calf muscles NOT_TRANSLATED +en Muscle hypertrophy affecting the muscles of the neck HP:0012893 IAO:0000115 nl Muscle hypertrophy affecting the muscles of the neck NOT_TRANSLATED +en Muscle hypertrophy affecting the paraspinal muscles HP:0012894 IAO:0000115 nl Muscle hypertrophy affecting the paraspinal muscles NOT_TRANSLATED +en Muscle hypertrophy affecting the scapular muscles HP:0012895 IAO:0000115 nl Muscle hypertrophy affecting the scapular muscles NOT_TRANSLATED +en Muscle hypertrophy affecting the thighs HP:0003733 IAO:0000115 nl Muscle hypertrophy affecting the thighs NOT_TRANSLATED +en Muscle hypertrophy of the lower extremities HP:0008968 rdfs:label nl Spier hypertrofie van de onderste extremiteiten CANDIDATE +en Muscle hypertrophy primarily affecting the legs HP:0008968 IAO:0000115 nl Muscle hypertrophy primarily affecting the legs NOT_TRANSLATED +en Muscle mounding HP:0003719 rdfs:label nl Muscle mounding NOT_TRANSLATED +en Muscle spasm HP:0003394 rdfs:label nl Spierkrampen CANDIDATE +en Muscle stiffness HP:0003552 rdfs:label nl Spierstijfheid CANDIDATE +en Muscle weakness HP:0001324 rdfs:label nl Spierzwakte CANDIDATE +en Muscle weakness affecting the tibialis anterior muscle HP:0008963 IAO:0000115 nl Muscle weakness affecting the tibialis anterior muscle NOT_TRANSLATED +en Muscular atrophy affecting muscles in the distal portions of the extremities HP:0003693 IAO:0000115 nl Muscular atrophy affecting muscles in the distal portions of the extremities NOT_TRANSLATED +en Muscular atrophy affecting proximally located muscles of the arms HP:0008948 IAO:0000115 nl Muscular atrophy affecting proximally located muscles of the arms NOT_TRANSLATED +en Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh HP:0008956 IAO:0000115 nl Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh NOT_TRANSLATED +en Muscular atrophy affecting the lower limb HP:0007210 IAO:0000115 nl Muscular atrophy affecting the lower limb NOT_TRANSLATED +en Muscular atrophy affecting the muscles of the limb girdle HP:0003797 IAO:0000115 nl Muscular atrophy affecting the muscles of the limb girdle NOT_TRANSLATED +en Muscular atrophy affecting the muscles of the pelvis HP:0003665 IAO:0000115 nl Muscular atrophy affecting the muscles of the pelvis NOT_TRANSLATED +en Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles) HP:0008988 IAO:0000115 nl Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles) NOT_TRANSLATED +en Muscular atrophy in the distribution of shoulder girdle and peroneal muscles HP:0003697 IAO:0000115 nl Muscular atrophy in the distribution of shoulder girdle and peroneal muscles NOT_TRANSLATED +en Muscular atrophy involving the muscles of the hand HP:0009130 IAO:0000115 nl Muscular atrophy involving the muscles of the hand NOT_TRANSLATED +en Muscular atrophy involving the muscles of the upper limbs HP:0009129 IAO:0000115 nl Muscular atrophy involving the muscles of the upper limbs NOT_TRANSLATED +en Muscular atrophy involving the quadriceps muscle HP:0009050 IAO:0000115 nl Muscular atrophy involving the quadriceps muscle NOT_TRANSLATED +en Muscular atrophy of distal arm muscles HP:0007149 IAO:0000115 nl Muscular atrophy of distal arm muscles NOT_TRANSLATED +en Muscular atrophy of distal leg muscles HP:0008944 IAO:0000115 nl Muscular atrophy of distal leg muscles NOT_TRANSLATED +en Muscular atrophy that does not display a progression in severity with time HP:0008964 IAO:0000115 nl Muscular atrophy that does not display a progression in severity with time NOT_TRANSLATED +en Muscular cardiac diverticulum HP:0100573 rdfs:label nl Gespierd cardiaal divertikel CANDIDATE +en Muscular dystrophy HP:0003560 rdfs:label nl Musculaire dystrofie CANDIDATE +en Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders) HP:0006785 IAO:0000115 nl Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders) NOT_TRANSLATED +en Muscular edema HP:0100748 rdfs:label nl Musculair oedeem CANDIDATE +en Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk HP:0008936 IAO:0000115 nl Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk NOT_TRANSLATED +en Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy HP:0009062 IAO:0000115 nl Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy NOT_TRANSLATED +en Muscular hypotonia (abnormally low muscle tone) manifesting in infancy HP:0008947 IAO:0000115 nl Muscular hypotonia (abnormally low muscle tone) manifesting in infancy NOT_TRANSLATED +en Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period HP:0001319 IAO:0000115 nl Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period NOT_TRANSLATED +en Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature HP:0008935 IAO:0000115 nl Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature NOT_TRANSLATED +en Muscular hypotonia of one or more limbs HP:0012389 IAO:0000115 nl Muscular hypotonia of one or more limbs NOT_TRANSLATED +en Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface HP:0032465 IAO:0000115 nl Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface NOT_TRANSLATED +en Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) HP:0007076 IAO:0000115 nl Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement) NOT_TRANSLATED +en Muscular subvalvular aortic stenosis HP:0001691 rdfs:label nl Musculaire subvalvulaire aorta stenose CANDIDATE +en Muscular ventricular septal aneurysm HP:0030959 rdfs:label nl Musculaire ventriculaire septum aneurysma CANDIDATE +en Muscular ventricular septal defect HP:0011623 rdfs:label nl Musculair ventrikelseptumdefect CANDIDATE +en Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem HP:0007269 IAO:0000115 nl Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem NOT_TRANSLATED +en Musculotendinous retraction HP:0031462 rdfs:label nl Musculotendineuze retractie CANDIDATE +en Music-induced seizure HP:0032896 rdfs:label nl Music-induced seizure NOT_TRANSLATED +en Musty odor HP:0410021 rdfs:label nl Muffe geur CANDIDATE +en Mutism HP:0002300 rdfs:label nl Mutisme CANDIDATE +en Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions HP:0031453 IAO:0000115 nl Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions NOT_TRANSLATED +en Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques HP:0031452 IAO:0000115 nl Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques NOT_TRANSLATED +en Myalgia HP:0003326 rdfs:label nl Myalgie CANDIDATE +en Mycobacterium abscessus abscessus infection HP:0032130 rdfs:label nl Mycobacterium abscessus abscessus infection NOT_TRANSLATED +en Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections HP:0032130 IAO:0000115 nl Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections NOT_TRANSLATED +en Mydriasis HP:0011499 rdfs:label nl Mydriasis CANDIDATE +en Myelin outfoldings HP:0004336 rdfs:label nl Myelin outfoldings NOT_TRANSLATED +en Myelin tomacula HP:0030175 rdfs:label nl Myeline tomacula CANDIDATE +en Myelin-dependent gliosis HP:0006990 rdfs:label nl Myeline-afhankelijke gliose CANDIDATE +en Myelin-like whorls in vacuolated fibers HP:0031542 rdfs:label nl Myelin-like whorls in vacuolated fibers NOT_TRANSLATED +en Myelitis HP:0012486 rdfs:label nl Myelitis CANDIDATE +en Myelocystocele HP:0030709 rdfs:label nl Myelocystocele CANDIDATE +en Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst HP:0030709 IAO:0000115 nl Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst NOT_TRANSLATED +en Myelodysplasia HP:0002863 rdfs:label nl Myelodysplasie CANDIDATE +en Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic HP:0012149 IAO:0000115 nl Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic NOT_TRANSLATED +en Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic HP:0012148 IAO:0000115 nl Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic NOT_TRANSLATED +en Myelofibrosis HP:0011974 rdfs:label nl Myelofibrose CANDIDATE +en Myeloid leukemia HP:0012324 rdfs:label nl Myeloïde leukemie CANDIDATE +en Myeloid maturation arrest HP:0410253 rdfs:label nl Myeloid maturation arrest NOT_TRANSLATED +en Myelokathexis HP:0031160 rdfs:label nl Myelokathexis CANDIDATE +en Myelomeningocele HP:0002475 rdfs:label nl Myelomeningocele CANDIDATE +en Myelopathy HP:0002196 rdfs:label nl Myelopathie CANDIDATE +en Myeloproliferative disorder HP:0005547 rdfs:label nl Myeloproliferatieve aandoening CANDIDATE +en Myeloschisis HP:0030708 rdfs:label nl Myeloschisis CANDIDATE +en Myocardial bridging HP:0025490 rdfs:label nl Myocardbruggen CANDIDATE +en Myocardial calcification HP:0006690 rdfs:label nl Myocardiale calcificatie CANDIDATE +en Myocardial eosinophilic infiltration HP:0031323 rdfs:label nl Myocardiale eosinofiele infiltratie CANDIDATE +en Myocardial fibrosis HP:0001685 rdfs:label nl Myocardiale fibrose CANDIDATE +en Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts HP:0001685 IAO:0000115 nl Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts NOT_TRANSLATED +en Myocardial granulomatous infiltrates HP:0031325 rdfs:label nl Myocardiale granulomateuze infiltraten CANDIDATE +en Myocardial immune cell infiltration HP:0031321 rdfs:label nl Myocardiale immuuncel infiltratie CANDIDATE +en Myocardial infarction HP:0001658 rdfs:label nl Myocardinfarct CANDIDATE +en Myocardial late gadolinium enhancement HP:4000004 rdfs:label nl Myocardial late gadolinium enhancement NOT_TRANSLATED +en Myocardial lymphocytic infiltration HP:0031322 rdfs:label nl Myocardiale lymfocytaire infiltratie CANDIDATE +en Myocardial multinucleated giant cells HP:0031324 rdfs:label nl Myocardial multinucleated giant cells NOT_TRANSLATED +en Myocardial necrosis HP:0001700 rdfs:label nl Myocardiale necrose CANDIDATE +en Myocardial sarcomeric disarray HP:0031333 rdfs:label nl Myocardial sarcomeric disarray NOT_TRANSLATED +en Myocardial steatosis HP:0006693 rdfs:label nl Myocardiale steatose CANDIDATE +en Myocarditis HP:0012819 rdfs:label nl Myocarditis CANDIDATE +en Myoclonic absence seizure HP:0011150 rdfs:label nl Myoclonische absences CANDIDATE +en Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 HP:0011150 IAO:0000115 nl Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017 NOT_TRANSLATED +en Myoclonic absence status epilepticus HP:0032865 rdfs:label nl Myoclonic absence status epilepticus NOT_TRANSLATED +en Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG HP:0032865 IAO:0000115 nl Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG NOT_TRANSLATED +en Myoclonic seizure HP:0032794 rdfs:label nl Myoclonic seizure NOT_TRANSLATED +en Myoclonic spasms HP:0003739 rdfs:label nl Myoclonische spasmen CANDIDATE +en Myoclonic status epilepticus HP:0032667 rdfs:label nl Myoclonic status epilepticus NOT_TRANSLATED +en Myoclonic status epilepticus with coma HP:0032669 rdfs:label nl Myoclonic status epilepticus with coma NOT_TRANSLATED +en Myoclonic status epilepticus without coma HP:0032668 rdfs:label nl Myoclonic status epilepticus without coma NOT_TRANSLATED +en Myoclonic tremor HP:0033054 rdfs:label nl Myoclonic tremor NOT_TRANSLATED +en Myoclonus HP:0001336 rdfs:label nl Myoclonus CANDIDATE +en Myoclonus that occurs during the initial phases of sleep HP:0012323 IAO:0000115 nl Myoclonus that occurs during the initial phases of sleep NOT_TRANSLATED +en Myofiber disarray HP:0031318 rdfs:label nl Myofiber disarray NOT_TRANSLATED +en Myofibrillar myopathy HP:0003715 rdfs:label nl Myofibrillaire myopathie CANDIDATE +en Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins HP:0003715 IAO:0000115 nl Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins NOT_TRANSLATED +en Myofibromatosis HP:0020135 rdfs:label nl Myofibromatosis NOT_TRANSLATED +en Myoglobin casts HP:0032593 rdfs:label nl Myoglobin casts NOT_TRANSLATED +en Myoglobinuria HP:0002913 rdfs:label nl Myoglobinurie CANDIDATE +en Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney HP:0033926 IAO:0000115 nl Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney NOT_TRANSLATED +en Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers HP:0033961 IAO:0000115 nl Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers NOT_TRANSLATED +en Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers HP:0033974 IAO:0000115 nl Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers NOT_TRANSLATED +en Myokymia HP:0002411 rdfs:label nl Myokymie CANDIDATE +en Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle HP:0002411 IAO:0000115 nl Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle NOT_TRANSLATED +en Myopathic facies HP:0002058 rdfs:label nl Myopatisch aangezicht CANDIDATE +en Myopathy HP:0003198 rdfs:label nl Myopathie CANDIDATE +en Myopia HP:0000545 rdfs:label nl Myopie CANDIDATE +en Myopic astigmatism HP:0500041 rdfs:label nl Myopic astigmatism NOT_TRANSLATED +en Myositis HP:0100614 rdfs:label nl Myositis CANDIDATE +en Myotonia HP:0002486 rdfs:label nl Myotonie CANDIDATE +en Myotonia of the face HP:0012900 rdfs:label nl Myotonie van het gezicht CANDIDATE +en Myotonia of the jaw HP:0012901 rdfs:label nl Myotonie van de kaak CANDIDATE +en Myotonia of the lower limb HP:0012902 rdfs:label nl Myotonie van de onderste extremiteit CANDIDATE +en Myotonia of the upper limb HP:0012903 rdfs:label nl Myotonie van de bovenste extremiteit CANDIDATE +en Myotonia that occurs after a period of rest and decreases with continuing exercise HP:0003740 IAO:0000115 nl Myotonia that occurs after a period of rest and decreases with continuing exercise NOT_TRANSLATED +en Myotonia with warm-up phenomenon HP:0003740 rdfs:label nl Myotonie met warming-up fenomeen CANDIDATE +en Myxoid liposarcoma HP:0012268 rdfs:label nl Myxoid liposarcoom CANDIDATE +en Myxoid subcutaneous tumors HP:0006769 rdfs:label nl Myxoïde subcutane tumoren CANDIDATE +en Myxomatous mitral valve degeneration HP:0004764 rdfs:label nl Myxomateuze mitralisklep degeneratie CANDIDATE +en Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view HP:0004764 IAO:0000115 nl Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view NOT_TRANSLATED +en Naevus flammeus localised in the skin of the eyelid HP:0010733 IAO:0000115 nl Naevus flammeus localised in the skin of the eyelid NOT_TRANSLATED +en Naevus flammeus localised in the skin of the forehead HP:0007413 IAO:0000115 nl Naevus flammeus localised in the skin of the forehead NOT_TRANSLATED +en Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns HP:0007616 IAO:0000115 nl Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns NOT_TRANSLATED +en Naevus flammeus of the eyelid HP:0010733 rdfs:label nl Naevus flammeus van het ooglid CANDIDATE +en Nail bed hemorrhage HP:0030254 rdfs:label nl Nagelbed bloeding CANDIDATE +en Nail bed telangiectasia HP:0001232 rdfs:label nl Nagelbed teleangiëctasie CANDIDATE +en Nail dysplasia HP:0002164 rdfs:label nl Nagel dysplasie CANDIDATE +en Nail dystrophy HP:0008404 rdfs:label nl Nagel dystrofie CANDIDATE +en Nail pits HP:0001803 rdfs:label nl Nagel pits CANDIDATE +en Nail psoriasis HP:0033327 rdfs:label nl Nail psoriasis NOT_TRANSLATED +en Nail that appears thick when viewed on end HP:0001805 IAO:0000115 nl Nail that appears thick when viewed on end NOT_TRANSLATED +en Nail that appears thin when viewed on end HP:0001816 IAO:0000115 nl Nail that appears thin when viewed on end NOT_TRANSLATED +en Nail whose growth pattern or speed deviates from normal HP:0030807 IAO:0000115 nl Nail whose growth pattern or speed deviates from normal NOT_TRANSLATED +en Nail-biting HP:0012170 rdfs:label nl Nagel bijten CANDIDATE +en Nailfold capillary tortuosity HP:0033250 rdfs:label nl Nailfold capillary tortuosity NOT_TRANSLATED +en Nails that easily break HP:0001808 IAO:0000115 nl Nails that easily break NOT_TRANSLATED +en Nails that slope upward at the free edge HP:0030819 IAO:0000115 nl Nails that slope upward at the free edge NOT_TRANSLATED +en Nails whose growth is quicker than normal HP:0030806 IAO:0000115 nl Nails whose growth is quicker than normal NOT_TRANSLATED +en Nails whose growth is slower than normal HP:0008383 IAO:0000115 nl Nails whose growth is slower than normal NOT_TRANSLATED +en Naked basement membranes without tubular epithelium HP:0032594 IAO:0000115 nl Naked basement membranes without tubular epithelium NOT_TRANSLATED +en Narcolepsy HP:0030050 rdfs:label nl Narcolepsie CANDIDATE +en Narrow angle glaucoma HP:0032119 rdfs:label nl Narrow angle glaucoma NOT_TRANSLATED +en Narrow anterio-posterior vertebral body diameter HP:0008473 rdfs:label nl Smalle anterio-posterieure wervellichaam diameter CANDIDATE +en Narrow carpal joint spaces HP:0004264 rdfs:label nl Smalle carpale gewrichtsspleet CANDIDATE +en Narrow chest HP:0000774 rdfs:label nl Smalle borst CANDIDATE +en Narrow face HP:0000275 rdfs:label nl Smal gelaat CANDIDATE +en Narrow femoral neck HP:0008819 rdfs:label nl Small collum CANDIDATE +en Narrow foot HP:0001786 rdfs:label nl Smalle voet CANDIDATE +en Narrow foramen obturatorium HP:0100958 rdfs:label nl Small foramen obturatorium CANDIDATE +en Narrow forehead HP:0000341 rdfs:label nl Smal voorhoofd CANDIDATE +en Narrow greater sciatic notch HP:0003375 rdfs:label nl Smalle incisurae ischiadica major CANDIDATE +en Narrow iliac wing HP:0002868 rdfs:label nl Small ala ossis ilium CANDIDATE +en Narrow incisura width HP:0031231 rdfs:label nl Smalle incisura CANDIDATE +en Narrow internal auditory canal HP:0011386 rdfs:label nl Smalle interne gehoorgang CANDIDATE +en Narrow jaw HP:0012801 rdfs:label nl Smalle kaak CANDIDATE +en Narrow joint spaces of the elbow HP:0003944 rdfs:label nl Smalle gewrichtsspleten van de elleboog CANDIDATE +en Narrow joint spaces of wrist HP:0004048 rdfs:label nl Smalle gewrichtsspleten van de pols CANDIDATE +en Narrow maxilla HP:0002010 rdfs:label nl Smalle maxilla CANDIDATE +en Narrow mediastinum HP:0034502 rdfs:label nl Narrow mediastinum NOT_TRANSLATED +en Narrow mouth HP:0000160 rdfs:label nl Smalle mond CANDIDATE +en Narrow nail HP:0011313 rdfs:label nl Smalle nagel CANDIDATE +en Narrow naris HP:0009933 rdfs:label nl Smal neusgat CANDIDATE +en Narrow nasal base HP:0012809 rdfs:label nl Smalle neusbasis CANDIDATE +en Narrow nasal bridge HP:0000446 rdfs:label nl Smalle neusbrug CANDIDATE +en Narrow nasal ridge HP:0000418 rdfs:label nl Smalle neusrug CANDIDATE +en Narrow nasal septum HP:0009936 rdfs:label nl Smal septum nasi CANDIDATE +en Narrow nasal tip HP:0011832 rdfs:label nl Smalle neuspunt CANDIDATE +en Narrow nose HP:0000460 rdfs:label nl Smalle neus CANDIDATE +en Narrow palate HP:0000189 rdfs:label nl Smal gehemelte CANDIDATE +en Narrow palm HP:0004283 rdfs:label nl Smalle handpalm CANDIDATE +en Narrow palpebral fissure HP:0045025 rdfs:label nl Smalle ooglidspleet CANDIDATE +en Narrow pelvis bone HP:0003275 rdfs:label nl Smal bekkenbeen CANDIDATE +en Narrow penis HP:0030262 rdfs:label nl Smalle penis CANDIDATE +en Narrow philtrum HP:0011829 rdfs:label nl Smal filtrum CANDIDATE +en Narrow ridge in the midline of the philtral groove HP:0011826 IAO:0000115 nl Narrow ridge in the midline of the philtral groove NOT_TRANSLATED +en Narrow small joints of the hand HP:0004267 rdfs:label nl Smalle kleine gewrichten van de hand CANDIDATE +en Narrow uvula HP:0010811 rdfs:label nl Smalle uvula CANDIDATE +en Narrow vertebral interpedicular distance HP:0008450 rdfs:label nl Smalle vertebrale interpediculaire afstand CANDIDATE +en Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot HP:0004681 IAO:0000115 nl Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot NOT_TRANSLATED +en Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column HP:0008486 IAO:0000115 nl Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column NOT_TRANSLATED +en Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine HP:0008457 IAO:0000115 nl Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine NOT_TRANSLATED +en Narrowing of a tear duct (lacrimal duct) HP:0007678 IAO:0000115 nl Narrowing of a tear duct (lacrimal duct) NOT_TRANSLATED +en Narrowing of a vein due to intimal hyperplasia and fibrosis HP:0025491 IAO:0000115 nl Narrowing of a vein due to intimal hyperplasia and fibrosis NOT_TRANSLATED +en Narrowing of an artery due to constriction of the blood vessels HP:0025637 IAO:0000115 nl Narrowing of an artery due to constriction of the blood vessels NOT_TRANSLATED +en Narrowing of medullary canal HP:0032458 rdfs:label nl Narrowing of medullary canal NOT_TRANSLATED +en Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication HP:0004950 IAO:0000115 nl Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication NOT_TRANSLATED +en Narrowing of the anorectum associated with inflammation or scar tissue HP:0033254 IAO:0000115 nl Narrowing of the anorectum associated with inflammation or scar tissue NOT_TRANSLATED +en Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose HP:0025011 IAO:0000115 nl Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose NOT_TRANSLATED +en Narrowing of the carotid arteries HP:0100546 IAO:0000115 nl Narrowing of the carotid arteries NOT_TRANSLATED +en Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure HP:0033000 IAO:0000115 nl Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure NOT_TRANSLATED +en Narrowing of the urethra associated with inflammation or scar tissue HP:0012227 IAO:0000115 nl Narrowing of the urethra associated with inflammation or scar tissue NOT_TRANSLATED +en Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch HP:0011646 IAO:0000115 nl Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch NOT_TRANSLATED +en Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch HP:0011647 IAO:0000115 nl Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch NOT_TRANSLATED +en Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch HP:0005151 IAO:0000115 nl Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch NOT_TRANSLATED +en Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta HP:0012305 IAO:0000115 nl Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta NOT_TRANSLATED +en Narrowing or constriction of the aorta localized to the region of the transverse aortic arch HP:0031053 IAO:0000115 nl Narrowing or constriction of the aorta localized to the region of the transverse aortic arch NOT_TRANSLATED +en Narrowing or constriction of the inner surface (lumen) of a cerebral artery HP:0012492 IAO:0000115 nl Narrowing or constriction of the inner surface (lumen) of a cerebral artery NOT_TRANSLATED +en Narrowing or constriction of the inner surface (lumen) of an artery HP:0100545 IAO:0000115 nl Narrowing or constriction of the inner surface (lumen) of an artery NOT_TRANSLATED +en Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery HP:0012494 IAO:0000115 nl Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery NOT_TRANSLATED +en Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery HP:0012493 IAO:0000115 nl Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery NOT_TRANSLATED +en Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery HP:0012495 IAO:0000115 nl Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery NOT_TRANSLATED +en Nasal chondritis HP:0033380 rdfs:label nl Nasal chondritis NOT_TRANSLATED +en Nasal congestion HP:0001742 rdfs:label nl Nasale obstructie CANDIDATE +en Nasal dryness HP:0033521 rdfs:label nl Nasal dryness NOT_TRANSLATED +en Nasal flaring HP:0030863 rdfs:label nl Nasal flaring NOT_TRANSLATED +en Nasal mucosa telangiectasia HP:0000434 rdfs:label nl Telangiëctasie in het neusslijmvlies CANDIDATE +en Nasal polyposis HP:0100582 rdfs:label nl Nasale polyposis CANDIDATE +en Nasal regurgitation HP:0011469 rdfs:label nl Nasale regurgitatie CANDIDATE +en Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low HP:0000444 IAO:0000115 nl Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low NOT_TRANSLATED +en Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip HP:0011120 IAO:0000115 nl Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip NOT_TRANSLATED +en Nasal septum perforation HP:0033434 rdfs:label nl Nasal septum perforation NOT_TRANSLATED +en Nasal speech HP:0001611 rdfs:label nl Nasale spraak CANDIDATE +en Nasal tip positioned to one side of the midline HP:0011831 IAO:0000115 nl Nasal tip positioned to one side of the midline NOT_TRANSLATED +en Nasal ulcer HP:0033361 rdfs:label nl Nasal ulcer NOT_TRANSLATED +en Nasal, dysarthic speech HP:0008376 rdfs:label nl Nasale, dysartrische spraak CANDIDATE +en Nasofrontal encephalocele HP:0011818 rdfs:label nl Nasofrontale encefalocele CANDIDATE +en Nasogastric tube feeding HP:0040288 rdfs:label nl Nasogastrische sondevoeding CANDIDATE +en Nasogastric tube feeding in infancy HP:0011470 rdfs:label nl Nasogastrische sondevoeding in zuigelingenperiode CANDIDATE +en Nasolacrimal duct obstruction HP:0000579 rdfs:label nl Nasolacrimaal kanaal obstructie CANDIDATE +en Nasolacrimal sac epithelial papillary carcinoma HP:0500037 rdfs:label nl Nasolacrimal sac epithelial papillary carcinoma NOT_TRANSLATED +en Nasolacrimal sac granuloma HP:0500035 rdfs:label nl Nasolacrimal sac granuloma NOT_TRANSLATED +en Nasolacrimal sac lymphoma HP:0500047 rdfs:label nl Nasolacrimal sac lymphoma NOT_TRANSLATED +en Nasolacrimal sac obstruction HP:0500034 rdfs:label nl Nasolacrimal sac obstruction NOT_TRANSLATED +en Nasolacrimal sac papilloma HP:0500036 rdfs:label nl Nasolacrimal sac papilloma NOT_TRANSLATED +en Nasopharyngeal teratoma HP:0031227 rdfs:label nl Nasofaryngeaal teratoom CANDIDATE +en Natal tooth HP:0000695 rdfs:label nl Natale tand CANDIDATE +en Nausea HP:0002018 rdfs:label nl Misselijkheid CANDIDATE +en Nausea and vomiting HP:0002017 rdfs:label nl Misselijkheid en braken CANDIDATE +en Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea HP:0002017 IAO:0000115 nl Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea NOT_TRANSLATED +en Near esotropia HP:0031722 rdfs:label nl Near esotropia NOT_TRANSLATED +en Near exotropia HP:0031715 rdfs:label nl Near exotropia NOT_TRANSLATED +en Neck flexor weakness HP:0003722 rdfs:label nl Zwakte van nekflexoren CANDIDATE +en Neck hypertonia HP:0031867 rdfs:label nl Neck hypertonia NOT_TRANSLATED +en Neck joint contracture HP:0005997 rdfs:label nl Beperkte beweging van nek vanwege contracturen CANDIDATE +en Neck muscle hypertrophy HP:0012893 rdfs:label nl Nekspier hypertrofie CANDIDATE +en Neck muscle hypoplasia HP:0008984 rdfs:label nl Nekspier hypoplasie CANDIDATE +en Neck muscle weakness HP:0000467 rdfs:label nl Nekspierzwakte CANDIDATE +en Neck pain HP:0030833 rdfs:label nl Nekpijn CANDIDATE +en Neck pterygia HP:0009759 rdfs:label nl Nek pterygia CANDIDATE +en Necklace skeletal muscle fibers HP:0031238 rdfs:label nl Necklace skeletal muscle fibers NOT_TRANSLATED +en Necrolytic migratory erythema HP:0031181 rdfs:label nl Migrerend necrotiserend erytheem CANDIDATE +en Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin HP:0001658 IAO:0000115 nl Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin NOT_TRANSLATED +en Necrotizing encephalopathy HP:0006976 rdfs:label nl Necrotiserende encefalopathie CANDIDATE +en Necrotizing enterocolitis HP:0033165 rdfs:label nl Necrotizing enterocolitis NOT_TRANSLATED +en Necrotizing ileitis HP:4000012 rdfs:label nl Necrotizing ileitis NOT_TRANSLATED +en Necrotizing myopathy HP:0008978 rdfs:label nl Necrotiserende myopathie CANDIDATE +en Necrotizing pulmonary granulomatosis HP:0033550 rdfs:label nl Necrotizing pulmonary granulomatosis NOT_TRANSLATED +en Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin HP:0033897 IAO:0000115 nl Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED +en Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin HP:0033876 IAO:0000115 nl Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED +en Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin HP:0033891 IAO:0000115 nl Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED +en Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin HP:0033885 IAO:0000115 nl Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED +en Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin HP:0033856 IAO:0000115 nl Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED +en Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin HP:0033872 IAO:0000115 nl Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED +en Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin HP:0033869 IAO:0000115 nl Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin NOT_TRANSLATED +en Negative affectivity HP:0031467 rdfs:label nl Negatieve affectiviteit CANDIDATE +en Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself HP:0031469 IAO:0000115 nl Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself NOT_TRANSLATED +en Negativism HP:0410291 rdfs:label nl Negativism NOT_TRANSLATED +en Neglecting one's own needs and well-being HP:0025479 IAO:0000115 nl Neglecting one's own needs and well-being NOT_TRANSLATED +en Nemaline bodies HP:0003798 rdfs:label nl Nemaline lichamen CANDIDATE +en Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces HP:0003798 IAO:0000115 nl Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces NOT_TRANSLATED +en Neonatal alloimmune thrombocytopenia HP:0004809 rdfs:label nl Neonatale allo-immuun trombocytopenie CANDIDATE +en Neonatal asphyxia HP:0012768 rdfs:label nl Neonatale asfyxie CANDIDATE +en Neonatal bilateral asymmetric epileptic spasm HP:0032841 rdfs:label nl Neonatal bilateral asymmetric epileptic spasm NOT_TRANSLATED +en Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body HP:0032841 IAO:0000115 nl Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body NOT_TRANSLATED +en Neonatal bilateral asymmetric myoclonic seizure HP:0032832 rdfs:label nl Neonatal bilateral asymmetric myoclonic seizure NOT_TRANSLATED +en Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically HP:0032832 IAO:0000115 nl Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically NOT_TRANSLATED +en Neonatal bilateral asymmetric tonic seizure HP:0032831 rdfs:label nl Neonatal bilateral asymmetric tonic seizure NOT_TRANSLATED +en Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically HP:0032831 IAO:0000115 nl Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically NOT_TRANSLATED +en Neonatal bilateral clonic seizure HP:0032819 rdfs:label nl Neonatal bilateral clonic seizure NOT_TRANSLATED +en Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral HP:0032819 IAO:0000115 nl Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral NOT_TRANSLATED +en Neonatal bilateral symmetric epileptic spasm HP:0032840 rdfs:label nl Neonatal bilateral symmetric epileptic spasm NOT_TRANSLATED +en Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body HP:0032840 IAO:0000115 nl Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body NOT_TRANSLATED +en Neonatal bilateral symmetric myoclonic seizure HP:0032836 rdfs:label nl Neonatal bilateral symmetric myoclonic seizure NOT_TRANSLATED +en Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically HP:0032836 IAO:0000115 nl Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically NOT_TRANSLATED +en Neonatal bilateral symmetric tonic seizure HP:0032828 rdfs:label nl Neonatal bilateral symmetric tonic seizure NOT_TRANSLATED +en Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically HP:0032828 IAO:0000115 nl Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically NOT_TRANSLATED +en Neonatal breathing dysregulation HP:0002790 rdfs:label nl Neonatale ademhaling dysregulatie CANDIDATE +en Neonatal cholestatic liver disease HP:0006566 rdfs:label nl Neonatale cholestatische lever ziekte CANDIDATE +en Neonatal death HP:0003811 rdfs:label nl Neonatale dood CANDIDATE +en Neonatal electro-clinical autonomic seizure HP:0032822 rdfs:label nl Neonatal electro-clinical autonomic seizure NOT_TRANSLATED +en Neonatal electro-clinical clonic seizure HP:0032814 rdfs:label nl Neonatal electro-clinical clonic seizure NOT_TRANSLATED +en Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric HP:0032814 IAO:0000115 nl Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric NOT_TRANSLATED +en Neonatal electro-clinical motor seizure HP:0032813 rdfs:label nl Neonatal electro-clinical motor seizure NOT_TRANSLATED +en Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features HP:0032813 IAO:0000115 nl Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features NOT_TRANSLATED +en Neonatal electro-clinical motor seizure with automatism HP:0032829 rdfs:label nl Neonatal electro-clinical motor seizure with automatism NOT_TRANSLATED +en Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features HP:0032829 IAO:0000115 nl Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features NOT_TRANSLATED +en Neonatal electro-clinical myoclonic seizure HP:0032815 rdfs:label nl Neonatal electro-clinical myoclonic seizure NOT_TRANSLATED +en Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) HP:0032815 IAO:0000115 nl Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) NOT_TRANSLATED +en Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea HP:0032822 IAO:0000115 nl Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea NOT_TRANSLATED +en Neonatal electro-clinical non-motor seizure HP:0032812 rdfs:label nl Neonatal electro-clinical non-motor seizure NOT_TRANSLATED +en Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations HP:0032823 IAO:0000115 nl Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations NOT_TRANSLATED +en Neonatal electro-clinical seizure HP:0032809 rdfs:label nl Neonatal electro-clinical seizure NOT_TRANSLATED +en Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation HP:0032809 IAO:0000115 nl Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation NOT_TRANSLATED +en Neonatal electro-clinical seizure with behavior arrest HP:0032823 rdfs:label nl Neonatal electro-clinical seizure with behavior arrest NOT_TRANSLATED +en Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures HP:0032825 IAO:0000115 nl Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures NOT_TRANSLATED +en Neonatal electro-clinical sequential seizure HP:0032825 rdfs:label nl Neonatal electro-clinical sequential seizure NOT_TRANSLATED +en Neonatal electro-clinical tonic seizure HP:0032821 rdfs:label nl Neonatal electro-clinical tonic seizure NOT_TRANSLATED +en Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes HP:0032821 IAO:0000115 nl Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes NOT_TRANSLATED +en Neonatal electrographic only seizure HP:0032811 rdfs:label nl Neonatal electrographic only seizure NOT_TRANSLATED +en Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation HP:0032811 IAO:0000115 nl Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation NOT_TRANSLATED +en Neonatal epileptic spasm HP:0032833 rdfs:label nl Neonatal epileptic spasm NOT_TRANSLATED +en Neonatal epiphyseal stippling HP:0005756 rdfs:label nl Neonatale vlekkerige calcificaties van epifyse CANDIDATE +en Neonatal focal clonic seizure HP:0032818 rdfs:label nl Neonatal focal clonic seizure NOT_TRANSLATED +en Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites HP:0032820 IAO:0000115 nl Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites NOT_TRANSLATED +en Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups HP:0032818 IAO:0000115 nl Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups NOT_TRANSLATED +en Neonatal focal myoclonic seizure HP:0032817 rdfs:label nl Neonatal focal myoclonic seizure NOT_TRANSLATED +en Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally HP:0032817 IAO:0000115 nl Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally NOT_TRANSLATED +en Neonatal focal tonic seizure HP:0032824 rdfs:label nl Neonatal focal tonic seizure NOT_TRANSLATED +en Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes HP:0032824 IAO:0000115 nl Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes NOT_TRANSLATED +en Neonatal hyperbilirubinemia HP:0003265 rdfs:label nl Neonatale hyperbilirubinemie CANDIDATE +en Neonatal hypoglycemia HP:0001998 rdfs:label nl Neonatale hypoglykemie CANDIDATE +en Neonatal hypoproteinemia HP:0008360 rdfs:label nl Neonatale hypoproteinemie CANDIDATE +en Neonatal hypotonia HP:0001319 rdfs:label nl Neonatale hypotonie CANDIDATE +en Neonatal inspiratory stridor HP:0004875 rdfs:label nl Neonatale inspiratoire stridor CANDIDATE +en Neonatal insulin-dependent diabetes mellitus HP:0000857 rdfs:label nl Neonatale insuline-afhankelijke diabetes mellitus CANDIDATE +en Neonatal intestinal obstruction HP:0005234 rdfs:label nl Neonatale intestinale obstructie CANDIDATE +en Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants HP:0006579 IAO:0000115 nl Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants NOT_TRANSLATED +en Neonatal multifocal clonic seizure HP:0032820 rdfs:label nl Neonatal multifocal clonic seizure NOT_TRANSLATED +en Neonatal multifocal myoclonic seizure HP:0032816 rdfs:label nl Neonatal multifocal myoclonic seizure NOT_TRANSLATED +en Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites HP:0032816 IAO:0000115 nl Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites NOT_TRANSLATED +en Neonatal omphalitis HP:0032435 rdfs:label nl Neonatal omphalitis NOT_TRANSLATED +en Neonatal onset HP:0003623 rdfs:label nl Neonatale onset CANDIDATE +en Neonatal respiratory distress HP:0002643 rdfs:label nl Neonatale respiratoire nood CANDIDATE +en Neonatal seizure HP:0032807 rdfs:label nl Neonatal seizure NOT_TRANSLATED +en Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation HP:0032808 IAO:0000115 nl Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation NOT_TRANSLATED +en Neonatal seizure with bilateral asymmetric automatism HP:0032830 rdfs:label nl Neonatal seizure with bilateral asymmetric automatism NOT_TRANSLATED +en Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically HP:0032835 IAO:0000115 nl Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically NOT_TRANSLATED +en Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically HP:0032830 IAO:0000115 nl Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically NOT_TRANSLATED +en Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body HP:0032834 IAO:0000115 nl Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body NOT_TRANSLATED +en Neonatal seizure with bilateral symmetric automatism HP:0032835 rdfs:label nl Neonatal seizure with bilateral symmetric automatism NOT_TRANSLATED +en Neonatal seizure with electrographic correlate HP:0032808 rdfs:label nl Neonatal seizure with electrographic correlate NOT_TRANSLATED +en Neonatal seizure with unilateral automatism HP:0032834 rdfs:label nl Neonatal seizure with unilateral automatism NOT_TRANSLATED +en Neonatal sepsis HP:0040187 rdfs:label nl Neonatale sepsis CANDIDATE +en Neonatal short-limb short stature HP:0008921 rdfs:label nl Neonatale korte-ledemaat kleine lengte CANDIDATE +en Neonatal short-trunk short stature HP:0008857 rdfs:label nl Neonatale korte-romp kleine lengte CANDIDATE +en Neonatal unconjugated hyperbilirubinemia HP:0008176 rdfs:label nl Neonatale ongeconjugeerde hyperbilirubinemie CANDIDATE +en Neonatal unilateral epileptic spasm HP:0032838 rdfs:label nl Neonatal unilateral epileptic spasm NOT_TRANSLATED +en Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body HP:0032838 IAO:0000115 nl Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body NOT_TRANSLATED +en Neonatal wrinkled skin of hands and feet HP:0007414 rdfs:label nl Neonatale gerimpelde huid van handen en voeten CANDIDATE +en Neoplasia of the nasopharynx HP:0100630 rdfs:label nl Neoplasma van de nasofarynx CANDIDATE +en Neoplasia of the pleura HP:0100527 rdfs:label nl Neoplasma van de pleura CANDIDATE +en Neoplasm HP:0002664 rdfs:label nl Neoplasma CANDIDATE +en Neoplasm by anatomical site HP:0011793 rdfs:label nl Neoplasma op anatomische plek CANDIDATE +en Neoplasm by histology HP:0011792 rdfs:label nl Neoplasma op histologie CANDIDATE +en Neoplasm categorized according to the anatomical site of origin of the neoplasm HP:0011793 IAO:0000115 nl Neoplasm categorized according to the anatomical site of origin of the neoplasm NOT_TRANSLATED +en Neoplasm categorized according to type of histological abnormality HP:0011792 IAO:0000115 nl Neoplasm categorized according to type of histological abnormality NOT_TRANSLATED +en Neoplasm involving odontogenic cells, an odontogenic tumor HP:0100612 IAO:0000115 nl Neoplasm involving odontogenic cells, an odontogenic tumor NOT_TRANSLATED +en Neoplasm of fatty tissue HP:0200013 rdfs:label nl Neoplasma van vetweefsel CANDIDATE +en Neoplasm of head and neck HP:0012288 rdfs:label nl Neoplasma van hoofd en nek CANDIDATE +en Neoplasm of striated muscle HP:0009728 rdfs:label nl Neoplasma van dwarsgestreept spierweefsel CANDIDATE +en Neoplasm of the adrenal cortex HP:0100641 rdfs:label nl Neoplasma van de bijnierschors CANDIDATE +en Neoplasm of the adrenal gland HP:0100631 rdfs:label nl Neoplasma van de bijnier CANDIDATE +en Neoplasm of the adrenal medulla HP:0100642 rdfs:label nl Neoplasma van het bijniermerg CANDIDATE +en Neoplasm of the anterior pituitary HP:0011750 rdfs:label nl Neoplasma van de anterieure hypofyse CANDIDATE +en Neoplasm of the autonomic nervous system HP:0030450 rdfs:label nl Neuroplasma van autonome zenuwstelsel CANDIDATE +en Neoplasm of the breast HP:0100013 rdfs:label nl Neoplasma van de borst CANDIDATE +en Neoplasm of the central nervous system HP:0100006 rdfs:label nl Neoplasma van het centrale zenuwstelsel CANDIDATE +en Neoplasm of the ceruminal gland HP:0040097 rdfs:label nl Neoplasma van de oorsmeerklier CANDIDATE +en Neoplasm of the colon HP:0100273 rdfs:label nl Neoplasma van de darm CANDIDATE +en Neoplasm of the ear HP:0012780 rdfs:label nl Neoplasma van het oor CANDIDATE +en Neoplasm of the endocrine system HP:0100568 rdfs:label nl Neoplasma van het endocriene systeem CANDIDATE +en Neoplasm of the eye HP:0100012 rdfs:label nl Neoplasma van het oog CANDIDATE +en Neoplasm of the gallbladder HP:0100575 rdfs:label nl Neoplasma van de galblaas CANDIDATE +en Neoplasm of the gastrointestinal tract HP:0007378 rdfs:label nl Neoplasma van het gastro-instestinale stelsel CANDIDATE +en Neoplasm of the genitourinary tract HP:0007379 rdfs:label nl Neoplasma van het urogenitale stelsel CANDIDATE +en Neoplasm of the heart HP:0100544 rdfs:label nl Neoplasma van het hart CANDIDATE +en Neoplasm of the inner ear HP:0040096 rdfs:label nl Neoplasma van het binnenoor CANDIDATE +en Neoplasm of the large intestine HP:0100834 rdfs:label nl Neoplasma van de dikke darm CANDIDATE +en Neoplasm of the larynx HP:0100605 rdfs:label nl Neoplasma van de larynx CANDIDATE +en Neoplasm of the lip HP:0100604 rdfs:label nl Neoplasma van de lip CANDIDATE +en Neoplasm of the liver HP:0002896 rdfs:label nl Neoplasma van de lever CANDIDATE +en Neoplasm of the lung HP:0100526 rdfs:label nl Neoplasma van de long CANDIDATE +en Neoplasm of the male external genitalia HP:0100848 rdfs:label nl Neoplasma van de mannelijke externe genitaliën CANDIDATE +en Neoplasm of the middle ear HP:0100799 rdfs:label nl Neoplasma van het middenoor CANDIDATE +en Neoplasm of the nail HP:0100826 rdfs:label nl Neoplasma van de nagel CANDIDATE +en Neoplasm of the nervous system HP:0004375 rdfs:label nl Neoplasma van het zenuwstelsel CANDIDATE +en Neoplasm of the nose HP:0012720 rdfs:label nl Neoplasma van de neus CANDIDATE +en Neoplasm of the oral cavity HP:0100649 rdfs:label nl Neoplasma van de mondholte CANDIDATE +en Neoplasm of the outer ear HP:0040095 rdfs:label nl Neoplasma van het uitwendige oor CANDIDATE +en Neoplasm of the pancreas HP:0002894 rdfs:label nl Neoplasma van de pancreas CANDIDATE +en Neoplasm of the parathyroid gland HP:0100733 rdfs:label nl Neoplasma van de bijschildklier CANDIDATE +en Neoplasm of the penis HP:0100850 rdfs:label nl Neoplasma van de penis CANDIDATE +en Neoplasm of the peripheral nervous system HP:0100007 rdfs:label nl Neoplasma van het perifere zenuwstelsel CANDIDATE +en Neoplasm of the pharynx HP:0100638 rdfs:label nl Neoplasma van de farnyx CANDIDATE +en Neoplasm of the pituitary gland HP:0040277 rdfs:label nl Neoplasma van de hypofyse CANDIDATE +en Neoplasm of the posterior pituitary HP:0011752 rdfs:label nl Neoplasma van de posterieure hypofyse CANDIDATE +en Neoplasm of the rectum HP:0100743 rdfs:label nl Neoplasma van het rectum CANDIDATE +en Neoplasm of the respiratory system HP:0100606 rdfs:label nl Neoplasma van het respiratoire systeem CANDIDATE +en Neoplasm of the scrotum HP:0100849 rdfs:label nl Neoplasma van het scrotum CANDIDATE +en Neoplasm of the skeletal system HP:0010622 rdfs:label nl Neoplasma van het skeletsysteem CANDIDATE +en Neoplasm of the skin HP:0008069 rdfs:label nl Neoplasma van de huid CANDIDATE +en Neoplasm of the small intestine HP:0100833 rdfs:label nl Neoplasma van dunne darm CANDIDATE +en Neoplasm of the stomach HP:0006753 rdfs:label nl Neoplasma van de maag CANDIDATE +en Neoplasm of the thymus HP:0100521 rdfs:label nl Neoplasma van de thymus CANDIDATE +en Neoplasm of the thyroid gland HP:0100031 rdfs:label nl Neoplasma van de schildklier CANDIDATE +en Neoplasm of the tongue HP:0100648 rdfs:label nl Neoplasma van de tong CANDIDATE +en Neoplasm of the trachea HP:0100551 rdfs:label nl Neoplasma van de trachea CANDIDATE +en Neoplasm of the tracheobronchial system HP:0100552 rdfs:label nl Neoplasma van het tracheabronchiale systeem CANDIDATE +en Neoplasm of the ureter HP:0100516 rdfs:label nl Neoplasma van de ureter CANDIDATE +en Neoplasm of the urethra HP:0100517 rdfs:label nl Neoplasma van de urthera CANDIDATE +en Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue) HP:0004377 IAO:0000115 nl Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue) NOT_TRANSLATED +en Nephritis HP:0000123 rdfs:label nl Nefritis CANDIDATE +en Nephroblastoma HP:0002667 rdfs:label nl Nefroblastoom CANDIDATE +en Nephroblastomatosis HP:0008643 rdfs:label nl Nefroblastomatose CANDIDATE +en Nephrocalcinosis HP:0000121 rdfs:label nl Nephrocalcinosis CANDIDATE +en Nephrocalcinosis is the deposition of calcium salts in renal parenchyma HP:0000121 IAO:0000115 nl Nephrocalcinosis is the deposition of calcium salts in renal parenchyma NOT_TRANSLATED +en Nephrogenic diabetes insipidus HP:0009806 rdfs:label nl Nefrogene diabetes insipidus CANDIDATE +en Nephrogenic rest HP:0100880 rdfs:label nl Nefrogene rest CANDIDATE +en Nephrolithiasis HP:0000787 rdfs:label nl Nefrolithiase CANDIDATE +en Nephronophthisis HP:0000090 rdfs:label nl Nefronoftise CANDIDATE +en Nephropathy HP:0000112 rdfs:label nl Nefropathie CANDIDATE +en Nephroptosis HP:0011126 rdfs:label nl Nefroptosis CANDIDATE +en Nephrosclerosis HP:0009741 rdfs:label nl Nefrosclerose CANDIDATE +en Nephrotic range proteinuria HP:0012593 rdfs:label nl Nephrotic range proteinuria NOT_TRANSLATED +en Nephrotic syndrome HP:0000100 rdfs:label nl Nefrotisch syndroom CANDIDATE +en Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia HP:0000100 IAO:0000115 nl Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia NOT_TRANSLATED +en Nephrotic syndrome with onset within the first three months of life HP:0008677 IAO:0000115 nl Nephrotic syndrome with onset within the first three months of life NOT_TRANSLATED +en Nervous tissue neoplasm HP:0030060 rdfs:label nl Zenuwweefsel neoplasma CANDIDATE +en Nesidioblastosis HP:0034346 rdfs:label nl Nesidioblastosis NOT_TRANSLATED +en Neural tube defect HP:0045005 rdfs:label nl Neurale buis defect CANDIDATE +en Neuralgia HP:0033345 rdfs:label nl Neuralgia NOT_TRANSLATED +en Neurenteric cyst HP:0030725 rdfs:label nl Neurenterische cyste CANDIDATE +en Neurite dystrophy HP:0025713 rdfs:label nl Neurite dystrophy NOT_TRANSLATED +en Neuritis HP:0031002 rdfs:label nl Neuritis CANDIDATE +en Neuroblastic tumor HP:0004376 rdfs:label nl Neuroblastische tumoren CANDIDATE +en Neuroblastoma HP:0003006 rdfs:label nl Neuroblastoom CANDIDATE +en Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum HP:0003006 IAO:0000115 nl Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum NOT_TRANSLATED +en Neurocytic rosette HP:0031930 rdfs:label nl Neurocytic rosette NOT_TRANSLATED +en Neurocytoma HP:0030064 rdfs:label nl Neurocytoom CANDIDATE +en Neurodegeneration HP:0002180 rdfs:label nl Neurodegeneratie CANDIDATE +en Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement HP:0007132 IAO:0000115 nl Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement NOT_TRANSLATED +en Neurodevelopmental abnormality HP:0012759 rdfs:label nl Afwijking in neurologische ontwikkeling CANDIDATE +en Neurodevelopmental delay HP:0012758 rdfs:label nl Achterstand in neurologische ontwikkeling CANDIDATE +en Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems HP:0012758 IAO:0000115 nl Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems NOT_TRANSLATED +en Neuroectodermal neoplasm HP:0030061 rdfs:label nl Neuroectodermaal neoplasma CANDIDATE +en Neuroendocrine neoplasm HP:0100634 rdfs:label nl Neuroendocrien neoplasma CANDIDATE +en Neuroepithelial cyst HP:0034485 rdfs:label nl Neuroepithelial cyst NOT_TRANSLATED +en Neuroepithelial neoplasm HP:0030063 rdfs:label nl Neuroepitheliaal neoplasma CANDIDATE +en Neurofibrillary tangles HP:0002185 rdfs:label nl Neurofibrillaire tangles CANDIDATE +en Neurofibromas HP:0001067 rdfs:label nl Neurofibromen CANDIDATE +en Neurofibromas originating in the spine HP:0009735 IAO:0000115 nl Neurofibromas originating in the spine NOT_TRANSLATED +en Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 HP:0009595 IAO:0000115 nl Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1 NOT_TRANSLATED +en Neurofibrosarcoma HP:0100697 rdfs:label nl Neurofibrosarcoom CANDIDATE +en Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases HP:0032928 IAO:0000115 nl Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases NOT_TRANSLATED +en Neurogenic bladder HP:0000011 rdfs:label nl Neurogene blaas CANDIDATE +en Neurogenic claudication HP:0031952 rdfs:label nl Neurogenic claudication NOT_TRANSLATED +en Neurogenic strabismus HP:0031775 rdfs:label nl Neurogenic strabismus NOT_TRANSLATED +en Neuroinflammation HP:0033429 rdfs:label nl Neuroinflammation NOT_TRANSLATED +en Neurological speech impairment HP:0002167 rdfs:label nl Neurologisch spraakgebrek CANDIDATE +en Neuroma HP:0030430 rdfs:label nl Neuroom CANDIDATE +en Neuromuscular dysphagia HP:0002068 rdfs:label nl Neuromusculaire dysfagie CANDIDATE +en Neuromyotonia HP:0034351 rdfs:label nl Neuromyotonia NOT_TRANSLATED +en Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus HP:0002542 IAO:0000115 nl Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus NOT_TRANSLATED +en Neuronal loss in basal ganglia HP:0200147 rdfs:label nl Neuronaal verlies in de basale ganglia CANDIDATE +en Neuronal loss in central nervous system HP:0002529 rdfs:label nl Neuraal verlies in het centrale zenuwstelsel CANDIDATE +en Neuronal loss in the cerebral cortex HP:0007190 rdfs:label nl Neuronaal verlies in de cerebrale cortex CANDIDATE +en Neuronal/glioneuronal neoplasm of the central nervous system HP:0025170 rdfs:label nl Neuronaal/glioneuronaal neoplasma in het centrale zenuwstelsel CANDIDATE +en Neurons that contain more than one nucleus HP:4000150 IAO:0000115 nl Neurons that contain more than one nucleus NOT_TRANSLATED +en Neuropathic arthropathy HP:0002821 rdfs:label nl Neuropathische artropathie CANDIDATE +en Neuropathic spinal arthropathy HP:0008443 rdfs:label nl Spinale deformiteiten CANDIDATE +en Neutral hyperaminoaciduria HP:0008353 rdfs:label nl Neutrale hyperaminoacidurie CANDIDATE +en Neutropenia HP:0001875 rdfs:label nl Neutropenie CANDIDATE +en Neutropenia in presence of anti-neutropil antibodies HP:0001904 rdfs:label nl Auto-immune neutropenie CANDIDATE +en Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months HP:0410252 IAO:0000115 nl Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months NOT_TRANSLATED +en Neutrophil inclusion bodies HP:0008264 rdfs:label nl Neutrofiele inclusielichaampjes CANDIDATE +en Neutrophil nuclear clefts HP:0041043 rdfs:label nl Neutrophil nuclear clefts NOT_TRANSLATED +en Neutrophilia HP:0011897 rdfs:label nl Neutrofilie CANDIDATE +en Neutrophilia in absence of infection HP:0410258 rdfs:label nl Neutrophilia in absence of infection NOT_TRANSLATED +en Neutrophilia in presence of infection HP:0410257 rdfs:label nl Neutrophilia in presence of infection NOT_TRANSLATED +en Neutrophilic infiltration of the skin HP:0031234 rdfs:label nl Neutrophilic infiltration of the skin NOT_TRANSLATED +en Neutrophilic urticarial dermatosis HP:0033167 rdfs:label nl Neutrophilic urticarial dermatosis NOT_TRANSLATED +en Nevus HP:0003764 rdfs:label nl Naevus CANDIDATE +en Nevus anemicus HP:0025105 rdfs:label nl Naevus anemicus CANDIDATE +en Nevus comedonicus HP:0020154 rdfs:label nl Nevus comedonicus NOT_TRANSLATED +en Nevus flammeus HP:0001052 rdfs:label nl Naevus flammeus CANDIDATE +en Nevus flammeus nuchae HP:0007616 rdfs:label nl Naevus flammeus nuchae CANDIDATE +en Nevus flammeus of the forehead HP:0007413 rdfs:label nl Naevus flammeus van het voorhoofd CANDIDATE +en Nevus of Ota HP:0009920 rdfs:label nl Naevus van Ota CANDIDATE +en Nevus roseus HP:0025106 rdfs:label nl Naevus roseus CANDIDATE +en Nevus sebaceous HP:0010815 rdfs:label nl Naevus sebaceous CANDIDATE +en Nevus sebaceus HP:0025511 rdfs:label nl Naevus sebaceus CANDIDATE +en Nevus spilus HP:0025510 rdfs:label nl Naevus spilus CANDIDATE +en New growth of vessels on the surface of the iris HP:0011497 IAO:0000115 nl New growth of vessels on the surface of the iris NOT_TRANSLATED +en Nicotine addiction HP:0033543 rdfs:label nl Nicotine addiction NOT_TRANSLATED +en Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences HP:0033543 IAO:0000115 nl Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences NOT_TRANSLATED +en Night gasping HP:0031503 rdfs:label nl Night gasping NOT_TRANSLATED +en Night sweats HP:0030166 rdfs:label nl Nachtzweten CANDIDATE +en Nitric oxide addiction HP:4000128 rdfs:label nl Nitric oxide addiction NOT_TRANSLATED +en Nitrituria HP:0031812 rdfs:label nl Nitrituria NOT_TRANSLATED +en No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours HP:0002401 IAO:0000115 nl No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours NOT_TRANSLATED +en No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells HP:0030465 IAO:0000115 nl No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells NOT_TRANSLATED +en No discernible ridge between concha and triangular fossa and helix HP:0011234 IAO:0000115 nl No discernible ridge between concha and triangular fossa and helix NOT_TRANSLATED +en No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide HP:0030894 IAO:0000115 nl No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide NOT_TRANSLATED +en No history of any serious disease, including the disease being investigated in the proband HP:0032322 IAO:0000115 nl No history of any serious disease, including the disease being investigated in the proband NOT_TRANSLATED +en No identifiable superior and/or inferior lacrimal punctum HP:0001092 IAO:0000115 nl No identifiable superior and/or inferior lacrimal punctum NOT_TRANSLATED +en No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy HP:0011629 IAO:0000115 nl No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy NOT_TRANSLATED +en No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy HP:0011631 IAO:0000115 nl No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy NOT_TRANSLATED +en No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart HP:0011630 IAO:0000115 nl No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart NOT_TRANSLATED +en No permanent dentition HP:0008498 rdfs:label nl Geen permanente dentitie CANDIDATE +en No secondary sexual characteristics are present at puberty HP:0008187 IAO:0000115 nl No secondary sexual characteristics are present at puberty NOT_TRANSLATED +en No social interaction HP:0008763 rdfs:label nl Geen sociale interactie CANDIDATE +en Nocturia HP:0000017 rdfs:label nl Nycturie CANDIDATE +en Nocturnal HP:0025301 rdfs:label nl Nachtelijk CANDIDATE +en Nocturnal hypoventilation HP:0002877 rdfs:label nl Nachtelijke hypoventilatie CANDIDATE +en Nocturnal hypoxemia HP:0034312 rdfs:label nl Nocturnal hypoxemia NOT_TRANSLATED +en Nocturnal lagophthalmos HP:0030002 rdfs:label nl Nachtelijke lagophthalmos CANDIDATE +en Nocturnal seizures HP:0031951 rdfs:label nl Nocturnal seizures NOT_TRANSLATED +en Nodding movement of the head or body HP:0030187 IAO:0000115 nl Nodding movement of the head or body NOT_TRANSLATED +en Nodular changes affecting the eyelids HP:0010732 rdfs:label nl Nodulaire veranderingen die de oogleden beïnvloeden CANDIDATE +en Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more HP:0010732 IAO:0000115 nl Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more NOT_TRANSLATED +en Nodular corneal dystrophy HP:0007827 rdfs:label nl Nodulaire cornea dystrofie CANDIDATE +en Nodular goiter HP:0005994 rdfs:label nl Nodulair struma CANDIDATE +en Nodular inflammatory vasculitis HP:0005300 rdfs:label nl Nodulaire inflammatoire vasculitis CANDIDATE +en Nodular melanoma HP:0012058 rdfs:label nl Nodulair melanoom CANDIDATE +en Nodular mesangiosclerosis HP:0033549 rdfs:label nl Nodular mesangiosclerosis NOT_TRANSLATED +en Nodular pattern on pulmonary HRCT HP:0025392 rdfs:label nl Nodulair patroon op pulmonale HRCT CANDIDATE +en Nodular regenerative hyperplasia of liver HP:0011954 rdfs:label nl Nodulaire regeneratieve hyperplasie van lever CANDIDATE +en Nodular septal thickening on pulmonary HRCT HP:0025173 rdfs:label nl Nodulaire septum verdikking op pulmonale HRCT CANDIDATE +en Nodular subcortical heterotopia in peritrigonal regions HP:0032392 rdfs:label nl Nodular subcortical heterotopia in peritrigonal regions NOT_TRANSLATED +en Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT HP:0025399 rdfs:label nl Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT NOT_TRANSLATED +en Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT HP:0032972 rdfs:label nl Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT NOT_TRANSLATED +en Nodular-perilymphatic pattern on pulmonary HRCT HP:0025398 rdfs:label nl Nodulair-perilymfatisch patroon op pulmonale HRCT CANDIDATE +en Nodular-random pattern on pulmonary HRCT HP:0025400 rdfs:label nl Nodulair-willekeurig patroon op pulmonale HRCT CANDIDATE +en Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple HP:0032388 IAO:0000115 nl Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple NOT_TRANSLATED +en Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound HP:0012479 IAO:0000115 nl Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound NOT_TRANSLATED +en Non-Hodgkin lymphoma HP:0012539 rdfs:label nl Non-Hodgkin lymfoom CANDIDATE +en Non-accomodative esotropia HP:0031760 rdfs:label nl Niet-accommodatieve esotropie CANDIDATE +en Non-acidotic proximal tubulopathy HP:0005574 rdfs:label nl Non-acidotische proximale tubulopathie CANDIDATE +en Non-caseating epithelioid cell granulomatosis HP:0012220 rdfs:label nl Non-caseating epithelioid cell granulomatosis NOT_TRANSLATED +en Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus HP:0011612 IAO:0000115 nl Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus NOT_TRANSLATED +en Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries HP:0011614 IAO:0000115 nl Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries NOT_TRANSLATED +en Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries HP:0011613 IAO:0000115 nl Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries NOT_TRANSLATED +en Non-continuity of the arch of aorta with an atretic point or absent segment HP:0011611 IAO:0000115 nl Non-continuity of the arch of aorta with an atretic point or absent segment NOT_TRANSLATED +en Non-continuous diffuse slowing of electroencephalographic patterns HP:0011205 IAO:0000115 nl Non-continuous diffuse slowing of electroencephalographic patterns NOT_TRANSLATED +en Non-convulsive status epilepticus with coma HP:0032659 rdfs:label nl Non-convulsive status epilepticus with coma NOT_TRANSLATED +en Non-convulsive status epilepticus without coma HP:0032671 rdfs:label nl Non-convulsive status epilepticus without coma NOT_TRANSLATED +en Non-infectious meningitis HP:0033430 rdfs:label nl Non-infectious meningitis NOT_TRANSLATED +en Non-medullary thyroid carcinoma HP:0040198 rdfs:label nl Non-medullair schildklier carcinoom CANDIDATE +en Non-midline cleft lip HP:0100335 rdfs:label nl Non-middellijn gespleten lip CANDIDATE +en Non-midline cleft palate HP:0100338 rdfs:label nl Non-middellijn gespleten gehemelte CANDIDATE +en Non-motor seizure HP:0033259 rdfs:label nl Non-motor seizure NOT_TRANSLATED +en Non-necrotizing granuloma HP:0033805 rdfs:label nl Non-necrotizing granuloma NOT_TRANSLATED +en Non-necrotizing pulmonary granulomatosis HP:0033551 rdfs:label nl Non-necrotizing pulmonary granulomatosis NOT_TRANSLATED +en Non-obstructive azoospermia HP:0011961 rdfs:label nl Niet-obstructieve azoospermie CANDIDATE +en Non-periodic recurrent fever HP:0032324 rdfs:label nl Non-periodic recurrent fever NOT_TRANSLATED +en Non-pruritic urticaria HP:0011137 rdfs:label nl Niet-pruritische urticaria CANDIDATE +en Non-rapid eye movement parasomnia HP:0025235 rdfs:label nl Niet-REM parasomnie CANDIDATE +en Non-restrictive ventricular septal defect HP:0011684 rdfs:label nl Niet-restrictief ventrikelseptumdefect CANDIDATE +en Non-secretory adrenocortical adenoma HP:0011745 rdfs:label nl Non-secretoir adrenocorticaal adenoom CANDIDATE +en Non-small cell lung carcinoma HP:0030358 rdfs:label nl Niet-kleincellig longcarcinoom CANDIDATE +en Non-spinning vertigo HP:4000033 rdfs:label nl Non-spinning vertigo NOT_TRANSLATED +en Nonarteriosclerotic cerebral calcification HP:0007238 rdfs:label nl Non-arteriosclerotische cerebrale calcificatie CANDIDATE +en Nonarteritic anterior ischemic optic neuropathy HP:0007634 rdfs:label nl Niet-arteritische anterieure ischemische opticusneuropathie CANDIDATE +en Noncommunicating hydrocephalus HP:0010953 rdfs:label nl Niet-communicerende hydrocefalie CANDIDATE +en Noncompaction cardiomyopathy HP:0012817 rdfs:label nl Non-compactie cardiomyopathie CANDIDATE +en Noncompaction cardiomyopathy that affects both ventricles HP:0012818 IAO:0000115 nl Noncompaction cardiomyopathy that affects both ventricles NOT_TRANSLATED +en Nonepidermolytic palmoplantar hyperkeratosis HP:0007404 rdfs:label nl Non-epidermolytische palmoplantaire keratodermie CANDIDATE +en Nongranulomatous uveitis HP:0007813 rdfs:label nl Niet-granulomateuze uveïtis CANDIDATE +en Nonimmune hydrops fetalis HP:0001790 rdfs:label nl Non-immune hydrops foetalis CANDIDATE +en Nonketotic hyperglycinemia HP:0008288 rdfs:label nl Nonketotische hyperglycinemie CANDIDATE +en Nonketotic hypoglycemia HP:0001958 rdfs:label nl Nonketotische hypoglykemie CANDIDATE +en Nonmidline alveolar cleft of the maxilla HP:0410034 IAO:0000115 nl Nonmidline alveolar cleft of the maxilla NOT_TRANSLATED +en Nonmidline cleft palate on the left and right sides HP:0100337 IAO:0000115 nl Nonmidline cleft palate on the left and right sides NOT_TRANSLATED +en Nonocclusive coronary artery atherosclerosis HP:0012436 rdfs:label nl Niet-occlusieve coronaire atherosclerose CANDIDATE +en Nonopposable triphalangeal thumb HP:0005725 rdfs:label nl Niet-opponeerbare triphalangeale duim CANDIDATE +en Nonossified fifth metatarsal HP:0008087 rdfs:label nl Niet-geossificeerde vijfde metatarsaal CANDIDATE +en Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers HP:0032085 IAO:0000115 nl Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers NOT_TRANSLATED +en Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells HP:0032088 IAO:0000115 nl Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells NOT_TRANSLATED +en Nonproductive cough HP:0031246 rdfs:label nl Niet-productieve hoest CANDIDATE +en Nonprogressive HP:0003680 rdfs:label nl Niet-progressief CANDIDATE +en Nonprogressive cerebellar ataxia HP:0002470 rdfs:label nl Niet-progressieve cerebellaire ataxie CANDIDATE +en Nonprogressive encephalopathy HP:0007030 rdfs:label nl Niet-progressieve encefalopathie CANDIDATE +en Nonprogressive muscular atrophy HP:0008964 rdfs:label nl Non-progressieve spieratrofie CANDIDATE +en Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited HP:0007831 IAO:0000115 nl Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited NOT_TRANSLATED +en Nonprogressive restrictive external ophthalmoplegia HP:0007831 rdfs:label nl Niet-progressieve restrictieve externe oftalmoplegie CANDIDATE +en Nonprogressive visual loss HP:0200068 rdfs:label nl Non-progressief visus verlies CANDIDATE +en Nonspecific interstitial pneumonia HP:0033584 rdfs:label nl Nonspecific interstitial pneumonia NOT_TRANSLATED +en Nonspherocytic hemolytic anemia HP:0001930 rdfs:label nl Nonsperocytische hemolytische anemie CANDIDATE +en Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts HP:0200040 IAO:0000115 nl Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts NOT_TRANSLATED +en Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous HP:0025246 IAO:0000115 nl Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous NOT_TRANSLATED +en Nontuberculous mycobacterial pulmonary infection HP:0032261 rdfs:label nl Nontuberculous mycobacterial pulmonary infection NOT_TRANSLATED +en Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues HP:0005507 IAO:0000115 nl Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues NOT_TRANSLATED +en Normal density transverse bands in metaphyses of the upper limbs HP:0003852 rdfs:label nl Normale dichtheid van transversale banden in de metafysen van de bovenste extremiteiten CANDIDATE +en Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia HP:0005560 IAO:0000115 nl Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia NOT_TRANSLATED +en Normal interictal EEG HP:0002372 rdfs:label nl Normaal interictaal EEG CANDIDATE +en Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip HP:0034045 IAO:0000115 nl Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip NOT_TRANSLATED +en Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes HP:0003347 IAO:0000115 nl Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes NOT_TRANSLATED +en Normal pressure hydrocephalus HP:0002343 rdfs:label nl Normal pressure hydrocephalus CANDIDATE +en Normal-density transverse humeral bands HP:0003916 rdfs:label nl Normaal-dicht ligamentum transversum humeri CANDIDATE +en Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern) HP:0031663 IAO:0000115 nl Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern) NOT_TRANSLATED +en Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point HP:0005458 IAO:0000115 nl Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point NOT_TRANSLATED +en Normochromic anemia HP:0001895 rdfs:label nl Normochrome anemie CANDIDATE +en Normochromic microcytic anemia HP:0004856 rdfs:label nl Normochrome microcytaire anemie CANDIDATE +en Normocytic anemia HP:0001897 rdfs:label nl Normocytaire anemie CANDIDATE +en Normocytic hypoplastic anemia HP:0004819 rdfs:label nl Normocytaire hypoplastische anemie CANDIDATE +en Notched P wave HP:0031598 rdfs:label nl Notched P wave NOT_TRANSLATED +en Notched T wave HP:0034303 rdfs:label nl Notched T wave NOT_TRANSLATED +en Notched hand bones HP:0004284 rdfs:label nl Ingekeepte hand botten CANDIDATE +en Notched primary central incisor HP:0012413 rdfs:label nl Notched primary central incisor NOT_TRANSLATED +en Notched ulna HP:0003989 rdfs:label nl Ingekeepte ulna CANDIDATE +en Noticeably unpleasant odors exhaled in breathing HP:0100812 IAO:0000115 nl Noticeably unpleasant odors exhaled in breathing NOT_TRANSLATED +en Nuchal cord HP:0012498 rdfs:label nl Nuchal koord CANDIDATE +en Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis HP:0034250 IAO:0000115 nl Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis NOT_TRANSLATED +en Nuchal rigidity HP:0031179 rdfs:label nl Nuchal rigidity NOT_TRANSLATED +en Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy) HP:0010880 IAO:0000115 nl Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy) NOT_TRANSLATED +en Nuclear cataract HP:0100018 rdfs:label nl Nucleair cataract CANDIDATE +en Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments HP:0031019 IAO:0000115 nl Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments NOT_TRANSLATED +en Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes HP:0031334 IAO:0000115 nl Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes NOT_TRANSLATED +en Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain HP:0100314 IAO:0000115 nl Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain NOT_TRANSLATED +en Nuclear or cytoplasmic aggregates of substances in red blood cells HP:0020080 IAO:0000115 nl Nuclear or cytoplasmic aggregates of substances in red blood cells NOT_TRANSLATED +en Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain HP:0012083 IAO:0000115 nl Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain NOT_TRANSLATED +en Nuclear pulverulent cataract HP:0010698 rdfs:label nl Nucleair pulverachtige cataract CANDIDATE +en Nuclear punctate cataract HP:0010925 rdfs:label nl Nuclear punctate cataract NOT_TRANSLATED +en Number of leukocytes per volume of blood beyond normal limits HP:0011893 IAO:0000115 nl Number of leukocytes per volume of blood beyond normal limits NOT_TRANSLATED +en Numerous congenital melanocytic nevi HP:0005603 rdfs:label nl Tal van congenitale melanocytische naevi CANDIDATE +en Numerous lymphocytes surrounding blood vessels in the deep part of the dermis HP:0031191 IAO:0000115 nl Numerous lymphocytes surrounding blood vessels in the deep part of the dermis NOT_TRANSLATED +en Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis HP:0031190 IAO:0000115 nl Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis NOT_TRANSLATED +en Numerous nevi HP:0001054 rdfs:label nl Talrijke naevi CANDIDATE +en Numerous pigmented freckles HP:0007587 rdfs:label nl Talrijke gepigmenteerde sproeten CANDIDATE +en Nummular eczema HP:0033120 rdfs:label nl Nummular eczema NOT_TRANSLATED +en Nummular pigmentation of the fundus HP:0030505 rdfs:label nl Nummulaire pigmentatie van de retina CANDIDATE +en Nut food product allergy HP:0410331 rdfs:label nl Nut food product allergy NOT_TRANSLATED +en Nutrition history HP:4000123 rdfs:label nl Nutrition history NOT_TRANSLATED +en Nyctalopia HP:0000662 rdfs:label nl Nachtblindheid CANDIDATE +en Nystagmus HP:0000639 rdfs:label nl Nystagmus CANDIDATE +en Nystagmus consisting of horizontal to-and-fro eye movements HP:0000666 IAO:0000115 nl Nystagmus consisting of horizontal to-and-fro eye movements NOT_TRANSLATED +en Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity HP:0007811 IAO:0000115 nl Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity NOT_TRANSLATED +en Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other HP:0007286 IAO:0000115 nl Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other NOT_TRANSLATED +en Nystagmus dating from or present at birth HP:0006934 IAO:0000115 nl Nystagmus dating from or present at birth NOT_TRANSLATED +en Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components HP:0010542 IAO:0000115 nl Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components NOT_TRANSLATED +en Nystagmus made apparent by looking to the right or to the left HP:0000640 IAO:0000115 nl Nystagmus made apparent by looking to the right or to the left NOT_TRANSLATED +en Nystagmus-induced head nodding HP:0001361 rdfs:label nl Nystagmus-geïnduceerde hoofdknikken CANDIDATE +en Obesity HP:0001513 rdfs:label nl Obesitas CANDIDATE +en Obesity located preferentially in the trunk of the body as opposed to the extremities HP:0001956 IAO:0000115 nl Obesity located preferentially in the trunk of the body as opposed to the extremities NOT_TRANSLATED +en Obesity with a body mass index of 30 to 34.9 kg per square meter HP:0025499 IAO:0000115 nl Obesity with a body mass index of 30 to 34.9 kg per square meter NOT_TRANSLATED +en Obesity with a body mass index of 35 to 39.9 kg per square meter HP:0025500 IAO:0000115 nl Obesity with a body mass index of 35 to 39.9 kg per square meter NOT_TRANSLATED +en Obesity with a body mass index of 40 kg per square meter or higher HP:0025501 IAO:0000115 nl Obesity with a body mass index of 40 kg per square meter or higher NOT_TRANSLATED +en Obligate HP:0040280 rdfs:label nl Verplicht CANDIDATE +en Oblique astigmatism HP:0031787 rdfs:label nl Oblique astigmatism NOT_TRANSLATED +en Oblique fracture HP:4000046 rdfs:label nl Oblique fracture NOT_TRANSLATED +en Obliteration of the calvarial diploe HP:0030312 rdfs:label nl Obliteration of the calvarial diploe NOT_TRANSLATED +en Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50% HP:0004737 IAO:0000115 nl Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50% NOT_TRANSLATED +en Obliterative abnormality of the renal glomerulus HP:0033215 rdfs:label nl Obliterative abnormality of the renal glomerulus NOT_TRANSLATED +en Obsessive-compulsive behavior HP:0000722 rdfs:label nl Obsessief-compulsief gedrag CANDIDATE +en Obsessive-compulsive trait HP:0008770 rdfs:label nl Obsessief-compulsief karaktertrek CANDIDATE +en Obstipation HP:0034782 rdfs:label nl Obstipatie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Obstruction affecting the biliary tree HP:0005230 IAO:0000115 nl Obstruction affecting the biliary tree NOT_TRANSLATED +en Obstruction of conducting airways of the lung HP:0006536 IAO:0000115 nl Obstruction of conducting airways of the lung NOT_TRANSLATED +en Obstruction of the flow of urine through the ureter HP:0006000 IAO:0000115 nl Obstruction of the flow of urine through the ureter NOT_TRANSLATED +en Obstruction of the flow of urine through the urethra HP:0000796 IAO:0000115 nl Obstruction of the flow of urine through the urethra NOT_TRANSLATED +en Obstruction of the intestine due to abnormally thick meconium HP:0004401 IAO:0000115 nl Obstruction of the intestine due to abnormally thick meconium NOT_TRANSLATED +en Obstruction of the superior vena cava HP:0031041 rdfs:label nl Obstructie van de vena cava superior CANDIDATE +en Obstructive azoospermia HP:0011962 rdfs:label nl Obstructieve azoospermie CANDIDATE +en Obstructive shock HP:0031276 rdfs:label nl Obstructieve shock CANDIDATE +en Obstructive sleep apnea HP:0002870 rdfs:label nl Obstructieve slaap apneu CANDIDATE +en Obtuse angle of mandible HP:0005446 rdfs:label nl Obtuse angle of mandible NOT_TRANSLATED +en Occasional HP:0040283 rdfs:label nl Af en toe CANDIDATE +en Occasional neurofibromas HP:0009595 rdfs:label nl Occasionele neurofibromen CANDIDATE +en Occipital cortical atrophy HP:0012105 rdfs:label nl Occipitale corticale atrofie CANDIDATE +en Occipital encephalocele HP:0002085 rdfs:label nl Occipitale encefalocele CANDIDATE +en Occipital meningocele HP:0002436 rdfs:label nl Occipitale meningocele CANDIDATE +en Occipital myelomeningocele HP:0007271 rdfs:label nl Occipitale myelomeningocele CANDIDATE +en Occipital neuralgia HP:0012318 rdfs:label nl Occipitale neuralgie CANDIDATE +en Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium HP:0000256 IAO:0000115 nl Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium NOT_TRANSLATED +en Occult macular dystrophy HP:0030636 rdfs:label nl Occulte macula dystrofie CANDIDATE +en Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities HP:0030636 IAO:0000115 nl Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities NOT_TRANSLATED +en Occupational disability HP:0033695 rdfs:label nl Occupational disability NOT_TRANSLATED +en Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development HP:0025453 IAO:0000115 nl Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development NOT_TRANSLATED +en Occurence of epileptiform discharges in occipital and central regions during photic stimulation HP:0011212 IAO:0000115 nl Occurence of epileptiform discharges in occipital and central regions during photic stimulation NOT_TRANSLATED +en Occuring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras) HP:4000152 IAO:0000115 nl Occuring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras) NOT_TRANSLATED +en Occurrence of epileptiform discharges in occipital regions during photic stimulation HP:0011211 IAO:0000115 nl Occurrence of epileptiform discharges in occipital regions during photic stimulation NOT_TRANSLATED +en Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation HP:0011213 IAO:0000115 nl Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation NOT_TRANSLATED +en Occurrence of excessive sweating during sleep HP:0030166 IAO:0000115 nl Occurrence of excessive sweating during sleep NOT_TRANSLATED +en Occurrence of generalized epileptiform discharges during photic stimulation HP:0011214 IAO:0000115 nl Occurrence of generalized epileptiform discharges during photic stimulation NOT_TRANSLATED +en Ochronosis HP:0030764 rdfs:label nl Ochronose CANDIDATE +en Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment HP:0007773 IAO:0000115 nl Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment NOT_TRANSLATED +en Ocular albinism HP:0001107 rdfs:label nl Oculair albinisme CANDIDATE +en Ocular anterior segment dysgenesis HP:0007700 rdfs:label nl Anterieure segment dysgenesie CANDIDATE +en Ocular dyssynergia HP:0010868 rdfs:label nl Oculaire dyssynergie CANDIDATE +en Ocular flutter HP:0031931 rdfs:label nl Ocular flutter NOT_TRANSLATED +en Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation HP:0031931 IAO:0000115 nl Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation NOT_TRANSLATED +en Ocular hypertension HP:0007906 rdfs:label nl Verhoogde intra-oculaire druk CANDIDATE +en Ocular melanocytosis HP:0025534 rdfs:label nl Oculaire melanocytose CANDIDATE +en Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex HP:0000657 IAO:0000115 nl Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex NOT_TRANSLATED +en Ocular pain HP:0200026 rdfs:label nl Oculaire pijn CANDIDATE +en Ocular pruritus HP:0033841 rdfs:label nl Ocular pruritus NOT_TRANSLATED +en Oculoclonic status epilepticus HP:0032866 rdfs:label nl Oculoclonic status epilepticus NOT_TRANSLATED +en Oculogyric crisis HP:0010553 rdfs:label nl Oculogyrische crisis CANDIDATE +en Oculomotor apraxia HP:0000657 rdfs:label nl Oculomotorische apraxie CANDIDATE +en Oculomotor nerve palsy HP:0012246 rdfs:label nl Nervus oculomotorius parese CANDIDATE +en Oculomotor synkinesis HP:0033851 rdfs:label nl Oculomotor synkinesis NOT_TRANSLATED +en Odontodysplasia HP:0000694 rdfs:label nl Shell teeth CANDIDATE +en Odontogenic keratocysts of the jaw HP:0010603 rdfs:label nl Odontogenische keratocysten van de kaak CANDIDATE +en Odontogenic neoplasm HP:0100612 rdfs:label nl Odontogeen neoplasma CANDIDATE +en Odontoma HP:0011068 rdfs:label nl Odontoom CANDIDATE +en Odynophagia HP:0032043 rdfs:label nl Odynophagia NOT_TRANSLATED +en Old-aged sensorineural hearing impairment HP:0040113 rdfs:label nl Perceptieve slechthorendheid horend bij oude leeftijd CANDIDATE +en Olfactory esthesioneuroblastoma HP:0030068 rdfs:label nl Olfactorisch esthesioneuroblastoom CANDIDATE +en Olfactory lobe agenesis HP:0001341 rdfs:label nl Olfactorische kwab agenesie CANDIDATE +en Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow HP:0033671 IAO:0000115 nl Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow NOT_TRANSLATED +en Oligoarthritis HP:0040313 rdfs:label nl Oligoartritis CANDIDATE +en Oligoclonal T cell expansion HP:0031430 rdfs:label nl Oligoclonale T-cel expansie CANDIDATE +en Oligoclonal elevation of circulating IgA HP:0032334 rdfs:label nl Oligoclonal elevation of circulating IgA NOT_TRANSLATED +en Oligoclonal elevation of circulating IgE HP:0032338 rdfs:label nl Oligoclonal elevation of circulating IgE NOT_TRANSLATED +en Oligoclonal elevation of circulating IgG HP:0032289 rdfs:label nl Oligoclonal elevation of circulating IgG NOT_TRANSLATED +en Oligoclonal elevation of circulating IgM HP:0032332 rdfs:label nl Oligoclonal elevation of circulating IgM NOT_TRANSLATED +en Oligodactyly HP:0012165 rdfs:label nl Oligodactylie CANDIDATE +en Oligodendroglioma HP:0033681 rdfs:label nl Oligodendroglioma NOT_TRANSLATED +en Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG HP:0033681 IAO:0000115 nl Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG NOT_TRANSLATED +en Oligodontia HP:0000677 rdfs:label nl Oligodontie CANDIDATE +en Oligodontia of primary teeth HP:0012225 rdfs:label nl Oligodontie van primaire tanden CANDIDATE +en Oligogenic inheritance HP:0010983 rdfs:label nl Oligogenetische overerving CANDIDATE +en Oligohydramnios HP:0001562 rdfs:label nl Oligohydramnion CANDIDATE +en Oligomenorrhea HP:0000876 rdfs:label nl Oligiomenorree CANDIDATE +en Oligosacchariduria HP:0010471 rdfs:label nl Oligosaccharidurie CANDIDATE +en Oligospermia HP:0000798 rdfs:label nl Oligospermie CANDIDATE +en Oliguria HP:0100520 rdfs:label nl Oligurie CANDIDATE +en Olivary degeneration HP:0008303 rdfs:label nl Olivaire degeneratie CANDIDATE +en Olivopontocerebellar atrophy HP:0002542 rdfs:label nl Olivopontocerebellaire atrofie CANDIDATE +en Olivopontocerebellar hypoplasia HP:0006955 rdfs:label nl Olivopontocerebellaire hypoplasie CANDIDATE +en Omphalocele HP:0001539 rdfs:label nl Omfalocèle CANDIDATE +en On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured HP:0025179 IAO:0000115 nl On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichnmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured NOT_TRANSLATED +en On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis HP:0034355 IAO:0000115 nl On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis NOT_TRANSLATED +en On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637) HP:0011430 IAO:0000115 nl On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637) NOT_TRANSLATED +en On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh HP:0025390 IAO:0000115 nl On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh NOT_TRANSLATED +en On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema HP:0025394 IAO:0000115 nl On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema NOT_TRANSLATED +en One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers HP:0100706 IAO:0000115 nl One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers NOT_TRANSLATED +en One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle HP:0001634 IAO:0000115 nl One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle NOT_TRANSLATED +en One or more abnormally short long bone HP:0003026 IAO:0000115 nl One or more abnormally short long bone NOT_TRANSLATED +en One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively HP:0010345 IAO:0000115 nl One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively NOT_TRANSLATED +en One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively HP:0010212 IAO:0000115 nl One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively NOT_TRANSLATED +en One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively HP:0010339 IAO:0000115 nl One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively NOT_TRANSLATED +en One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively HP:0010327 IAO:0000115 nl One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively NOT_TRANSLATED +en One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively HP:0010333 IAO:0000115 nl One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively NOT_TRANSLATED +en One or more bent (flexed) toe joints that cannot be straightened actively or passively HP:0005830 IAO:0000115 nl One or more bent (flexed) toe joints that cannot be straightened actively or passively NOT_TRANSLATED +en One or more brown punctate macules on the skin of the genitalia HP:0030257 IAO:0000115 nl One or more brown punctate macules on the skin of the genitalia NOT_TRANSLATED +en One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened HP:0011927 IAO:0000115 nl One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened NOT_TRANSLATED +en One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth HP:0002803 IAO:0000115 nl One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth NOT_TRANSLATED +en One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle HP:0001704 IAO:0000115 nl One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle NOT_TRANSLATED +en One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation) HP:0032468 IAO:0000115 nl One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation) NOT_TRANSLATED +en One sided alveolar cleft of the maxilla HP:0410033 IAO:0000115 nl One sided alveolar cleft of the maxilla NOT_TRANSLATED +en One sided hypoplasia of the kidney HP:0012583 IAO:0000115 nl One sided hypoplasia of the kidney NOT_TRANSLATED +en One-sided weakness of the muscles of facial expression and eye closure HP:0012799 IAO:0000115 nl One-sided weakness of the muscles of facial expression and eye closure NOT_TRANSLATED +en Onion bulb formation HP:0003383 rdfs:label nl Onion bulb formatie CANDIDATE +en Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain HP:0030283 IAO:0000115 nl Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain NOT_TRANSLATED +en Onset HP:0003674 rdfs:label nl Onset CANDIDATE +en Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following HP:4000040 IAO:0000115 nl Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following NOT_TRANSLATED +en Onset of adrenarche at an earlier age than usual HP:0012412 IAO:0000115 nl Onset of adrenarche at an earlier age than usual NOT_TRANSLATED +en Onset of disease at an age of greater than or equal to 16 to under 19 years HP:0025708 IAO:0000115 nl Onset of disease at an age of greater than or equal to 16 to under 19 years NOT_TRANSLATED +en Onset of disease at an age of greater than or equal to 19 to under 25 years HP:0025709 IAO:0000115 nl Onset of disease at an age of greater than or equal to 19 to under 25 years NOT_TRANSLATED +en Onset of disease at an age of greater than or equal to 25 to under 40 years HP:0025710 IAO:0000115 nl Onset of disease at an age of greater than or equal to 25 to under 40 years NOT_TRANSLATED +en Onset of disease at the age of between 1 and 5 years HP:0011463 IAO:0000115 nl Onset of disease at the age of between 1 and 5 years NOT_TRANSLATED +en Onset of disease at the age of between 16 and 40 years HP:0011462 IAO:0000115 nl Onset of disease at the age of between 16 and 40 years NOT_TRANSLATED +en Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation) HP:0011460 IAO:0000115 nl Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation) NOT_TRANSLATED +en Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset HP:0410280 IAO:0000115 nl Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset NOT_TRANSLATED +en Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later HP:0003581 IAO:0000115 nl Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later NOT_TRANSLATED +en Onset of signs or symptoms of disease between 28 days to one year of life HP:0003593 IAO:0000115 nl Onset of signs or symptoms of disease between 28 days to one year of life NOT_TRANSLATED +en Onset of signs or symptoms of disease between the age of 5 and 15 years HP:0003621 IAO:0000115 nl Onset of signs or symptoms of disease between the age of 5 and 15 years NOT_TRANSLATED +en Onset of signs or symptoms of disease within the first 28 days of life HP:0003623 IAO:0000115 nl Onset of signs or symptoms of disease within the first 28 days of life NOT_TRANSLATED +en Onset prior to birth HP:0030674 IAO:0000115 nl Onset prior to birth NOT_TRANSLATED +en Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks) HP:0011461 IAO:0000115 nl Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks) NOT_TRANSLATED +en Onychauxis HP:0012542 rdfs:label nl Onychauxis CANDIDATE +en Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate HP:0008404 IAO:0000115 nl Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate NOT_TRANSLATED +en Onychogryposis HP:0001805 rdfs:label nl Dikke nagel CANDIDATE +en Onychogryposis of fingernail HP:0040036 rdfs:label nl Onychogrypose van vingernagel CANDIDATE +en Onychogryposis of toenails HP:0008401 rdfs:label nl Onychogrypose van teennagels CANDIDATE +en Onycholysis HP:0001806 rdfs:label nl Onycholyse CANDIDATE +en Onycholysis of distal fingernails HP:0008400 rdfs:label nl Onycholyse van distale vingernagels CANDIDATE +en Onycholysis of fingernails HP:0040039 rdfs:label nl Onycholyse van vingernagels CANDIDATE +en Onychomadesis HP:0025088 rdfs:label nl Onychomadesis CANDIDATE +en Onychomycosis HP:0012203 rdfs:label nl Onychomycosis CANDIDATE +en Onychotillomania HP:0032509 rdfs:label nl Onychotillomania NOT_TRANSLATED +en Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails HP:0032509 IAO:0000115 nl Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails NOT_TRANSLATED +en Oocyte arrest at metaphase I HP:0031516 rdfs:label nl Oocyte arrest at metaphase I NOT_TRANSLATED +en Oophoritis HP:0031259 rdfs:label nl Oöforitis CANDIDATE +en Opacification of the corneal epithelium HP:0007727 rdfs:label nl Opacificatie van corneaal epitheel CANDIDATE +en Opacification of the corneal stroma HP:0007759 rdfs:label nl Opacificatie van cornea stroma CANDIDATE +en Opacified paranasal sinuses HP:0034494 rdfs:label nl Opacified paranasal sinuses NOT_TRANSLATED +en Opacity of the entire lens nucleus HP:0007657 IAO:0000115 nl Opacity of the entire lens nucleus NOT_TRANSLATED +en Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality HP:0031457 IAO:0000115 nl Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality NOT_TRANSLATED +en Open angle glaucoma HP:0012108 rdfs:label nl Open kamerhoek glaucoom CANDIDATE +en Open bite HP:0010807 rdfs:label nl Open beet CANDIDATE +en Open comedo HP:0025251 rdfs:label nl Open comedo CANDIDATE +en Open fracture HP:4000050 rdfs:label nl Open fracture NOT_TRANSLATED +en Open mouth HP:0000194 rdfs:label nl Open mond CANDIDATE +en Open neural tube defect HP:0034237 rdfs:label nl Open neural tube defect NOT_TRANSLATED +en Open operculum HP:0100954 rdfs:label nl Open operculum CANDIDATE +en Ophthalmic artery occlusion HP:0020164 rdfs:label nl Ophthalmic artery occlusion NOT_TRANSLATED +en Ophthalmoparesis HP:0000597 rdfs:label nl Oftalmoparese CANDIDATE +en Ophthalmoplegia HP:0000602 rdfs:label nl Oftalmoplegie CANDIDATE +en Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement HP:0000597 IAO:0000115 nl Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement NOT_TRANSLATED +en Opioid addiction HP:0033515 rdfs:label nl Opioid addiction NOT_TRANSLATED +en Opisthotonus HP:0002179 rdfs:label nl Opisthotonus CANDIDATE +en Oppenheim reflex HP:0030180 rdfs:label nl Reflex van Oppenheim CANDIDATE +en Opportunistic bacterial infection HP:0032260 rdfs:label nl Opportunistic bacterial infection NOT_TRANSLATED +en Opportunistic fungal infection HP:0032255 rdfs:label nl Opportunistic fungal infection NOT_TRANSLATED +en Opportunistic infection HP:0031690 rdfs:label nl Opportunistische infectie CANDIDATE +en Opportunistic viral infection HP:0033432 rdfs:label nl Opportunistic viral infection NOT_TRANSLATED +en Opposable triphalangeal thumb HP:0005866 rdfs:label nl Opponeerbare triphalangeale duim CANDIDATE +en Opposing or not responding to instructions or external stimuli HP:0410291 IAO:0000115 nl Opposing or not responding to instructions or external stimuli NOT_TRANSLATED +en Oppositional defiant disorder HP:0010865 rdfs:label nl Oppositioneel-opstandige gedragsstoornis CANDIDATE +en Opsoclonus HP:0010543 rdfs:label nl Opsoclonus CANDIDATE +en Optic ataxia HP:0031868 rdfs:label nl Optic ataxia NOT_TRANSLATED +en Optic atrophy HP:0000648 rdfs:label nl Opticusatrofie CANDIDATE +en Optic atrophy from cranial nerve compression HP:0007958 rdfs:label nl Optische atrofie van craniale zenuw compressie CANDIDATE +en Optic disc coloboma HP:0000588 rdfs:label nl Oogzenuw coloboom CANDIDATE +en Optic disc drusen HP:0012426 rdfs:label nl Optic disc drusen NOT_TRANSLATED +en Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve HP:0012426 IAO:0000115 nl Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve NOT_TRANSLATED +en Optic disc hypoplasia HP:0007766 rdfs:label nl Optische schijf hypoplasie CANDIDATE +en Optic disc pallor HP:0000543 rdfs:label nl Bleekheid optische schijf CANDIDATE +en Optic nerve aplasia HP:0012521 rdfs:label nl Nervus opticus aplasie CANDIDATE +en Optic nerve arteriovenous malformation HP:0031256 rdfs:label nl Nervus opticus arterioveneuze malformatie CANDIDATE +en Optic nerve compression HP:0007807 rdfs:label nl Nervus opticus compressie CANDIDATE +en Optic nerve dysplasia HP:0001093 rdfs:label nl Dysplasie van de oogzenuw CANDIDATE +en Optic nerve glioma HP:0009734 rdfs:label nl Oogzenuw glioom CANDIDATE +en Optic nerve gray crescent HP:0500086 rdfs:label nl Optic nerve gray crescent NOT_TRANSLATED +en Optic nerve hypoplasia HP:0000609 rdfs:label nl Hypoplasie van de oogzenuw CANDIDATE +en Optic nerve misrouting HP:0025551 rdfs:label nl Nervus opticus misrouting CANDIDATE +en Optic nerve sheath meningioma HP:0500089 rdfs:label nl Optic nerve sheath meningioma NOT_TRANSLATED +en Optic nerve tram-track sign HP:0032270 rdfs:label nl Optic nerve tram-track sign NOT_TRANSLATED +en Optic neuritis HP:0100653 rdfs:label nl Optische neuritis CANDIDATE +en Optic neuritis that occurs in the section of the optic nerve located behind the eyeball HP:0100654 IAO:0000115 nl Optic neuritis that occurs in the section of the optic nerve located behind the eyeball NOT_TRANSLATED +en Optic neuropathy HP:0001138 rdfs:label nl Optische neuropathie CANDIDATE +en Optically empty vitreous HP:0030663 rdfs:label nl Optically empty vitreous NOT_TRANSLATED +en Opto-chiasmatic atrophy HP:0034008 rdfs:label nl Opto-chiasmatic atrophy NOT_TRANSLATED +en Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border HP:0032154 IAO:0000115 nl Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border NOT_TRANSLATED +en Oral aversion HP:0012523 rdfs:label nl Orale aversie CANDIDATE +en Oral bleeding HP:0040184 rdfs:label nl Orale bloeding CANDIDATE +en Oral cavity bleeding HP:0030140 rdfs:label nl Mondholte bloeding CANDIDATE +en Oral cavity telangiectasia HP:0000228 rdfs:label nl Mondholte Teleangiëctasie CANDIDATE +en Oral cleft HP:0000202 rdfs:label nl Schisis CANDIDATE +en Oral commissures positioned superior to the midline labial fissure HP:0010805 IAO:0000115 nl Oral commissures positioned superior to the midline labial fissure NOT_TRANSLATED +en Oral erythroplakia HP:0030934 rdfs:label nl Orale erytroplakie CANDIDATE +en Oral hairy leukoplakia HP:0025126 rdfs:label nl Orale harige leukoplakie CANDIDATE +en Oral leukoplakia HP:0002745 rdfs:label nl Orale leukoplakie CANDIDATE +en Oral lichenoid lesion HP:0031453 rdfs:label nl Orale lichenoïde leasie CANDIDATE +en Oral melanoacanthoma HP:0032452 rdfs:label nl Oral melanoacanthoma NOT_TRANSLATED +en Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions HP:0032452 IAO:0000115 nl Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions NOT_TRANSLATED +en Oral melanotic macule HP:0032451 rdfs:label nl Oral melanotic macule NOT_TRANSLATED +en Oral motor hypotonia HP:0030190 rdfs:label nl Orale motorische hypotonie CANDIDATE +en Oral mucosa nodule HP:0031445 rdfs:label nl Orale mucosa nodulus CANDIDATE +en Oral mucosal blisters HP:0200097 rdfs:label nl Orale mucosale blaren CANDIDATE +en Oral synechia HP:0010285 rdfs:label nl Orale synechie CANDIDATE +en Oral ulcer HP:0000155 rdfs:label nl Mondulcus CANDIDATE +en Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control HP:0007301 IAO:0000115 nl Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control NOT_TRANSLATED +en Oral-pharyngeal dysphagia HP:0200136 rdfs:label nl Orale-faryngeale dysfagie CANDIDATE +en Orange discolored tonsils HP:0030814 rdfs:label nl Oranje verkleurde tonsillen CANDIDATE +en Orange urine HP:0032002 rdfs:label nl Orange urine NOT_TRANSLATED +en Orbital cleft HP:0031574 rdfs:label nl Orbitale schisis CANDIDATE +en Orbital craniosynostosis HP:0005472 rdfs:label nl Orbitale craniosynostose CANDIDATE +en Orbital cyst HP:0001144 rdfs:label nl Orbitale cyste CANDIDATE +en Orbital encephalocele HP:0007115 rdfs:label nl Orbitale encefalocele CANDIDATE +en Orbital rhabdomyosarcoma HP:0500092 rdfs:label nl Orbital rhabdomyosarcoma NOT_TRANSLATED +en Orbital schwannoma HP:0025604 rdfs:label nl Orbitaal schwannoom CANDIDATE +en Orchitis HP:0100796 rdfs:label nl Orchitis CANDIDATE +en Organic aciduria HP:0001992 rdfs:label nl Organische acidurie CANDIDATE +en Organized thrombi within interlobular vein lumen HP:0033858 rdfs:label nl Organized thrombi within interlobular vein lumen NOT_TRANSLATED +en Organizing pneumonia HP:0033670 rdfs:label nl Organizing pneumonia NOT_TRANSLATED +en Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities HP:0033670 IAO:0000115 nl Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities NOT_TRANSLATED +en Origin of the left subclavian artery from an anomalous anatomical location HP:0031253 IAO:0000115 nl Origin of the left subclavian artery from an anomalous anatomical location NOT_TRANSLATED +en Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva HP:0025503 IAO:0000115 nl Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva NOT_TRANSLATED +en Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, HP:0025506 IAO:0000115 nl Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels, NOT_TRANSLATED +en Ornithinuria HP:0003532 rdfs:label nl Ornithinurie CANDIDATE +en Orofacial action-specific dystonia induced by speech HP:0031007 rdfs:label nl Orofaciale actie-specifieke dystonie uitgelokt door spraak CANDIDATE +en Orofacial dyskinesia HP:0002310 rdfs:label nl Orofaciale dyskinesie CANDIDATE +en Oromandibular dystonia HP:0012048 rdfs:label nl Oromandibulaire dystonie CANDIDATE +en Oromotor apraxia HP:0007301 rdfs:label nl Oromotorische apraxie CANDIDATE +en Oropharyngeal squamous cell carcinoma HP:0012182 rdfs:label nl Orofaryngeaal plaveiselcelcarcinoom CANDIDATE +en Oropharyngeal squamous papilloma HP:0031022 rdfs:label nl Oropharyngeal squamous papilloma NOT_TRANSLATED +en Orotic acid crystalluria HP:0003526 rdfs:label nl Orotinezuur kristalurie CANDIDATE +en Oroticaciduria HP:0003218 rdfs:label nl Oroticacidurie CANDIDATE +en Orthodeoxia HP:0033367 rdfs:label nl Orthodeoxia NOT_TRANSLATED +en Orthodromic atrioventricular reentrant tachycardia HP:0031673 rdfs:label nl Orthodromische atrioventriculaire re-entry tachycardie CANDIDATE +en Orthokeratosis HP:0040162 rdfs:label nl Orthokeratose CANDIDATE +en Orthokeratotic hyperkeratosis HP:0025080 rdfs:label nl Orthokeratotische hyperkeratose CANDIDATE +en Orthopnea HP:0012764 rdfs:label nl Orthopnoe CANDIDATE +en Orthostatic hypotension HP:0001278 rdfs:label nl Orthostatische hypotensie CANDIDATE +en Orthostatic hypotension due to autonomic dysfunction HP:0004926 rdfs:label nl Orthostatische hypotensie vanwege autonome dysfunctie CANDIDATE +en Orthostatic syncope HP:0012670 rdfs:label nl Orthostatische syncope CANDIDATE +en Orthostatic tachycardia HP:0012173 rdfs:label nl Orthostatische tachycardie CANDIDATE +en Orthotopic os odontoideum HP:0025375 rdfs:label nl Orthotopisch os odontoideum CANDIDATE +en Os odontoideum HP:0005667 rdfs:label nl Os odontoideum CANDIDATE +en Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus HP:0040143 IAO:0000115 nl Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus NOT_TRANSLATED +en Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus HP:0025375 IAO:0000115 nl Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus NOT_TRANSLATED +en Osmotic diarrhea HP:0033310 rdfs:label nl Osmotic diarrhea NOT_TRANSLATED +en Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption HP:0033310 IAO:0000115 nl Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption NOT_TRANSLATED +en Osseous atresia of the external auditory canal HP:0040102 rdfs:label nl Ossale atresie van externe gehoorgang CANDIDATE +en Osseous finger syndactyly HP:0010492 rdfs:label nl Ossale vinger syndactylie CANDIDATE +en Osseous fusion of the lunate and triquetrum HP:0004251 IAO:0000115 nl Osseous fusion of the lunate and triquetrum NOT_TRANSLATED +en Osseous stenosis of the external auditory canal HP:0040104 rdfs:label nl Ossale stenose van de externe gehoorgang CANDIDATE +en Osseous syndactyly of toes HP:0010717 rdfs:label nl Osseuze syndactylie van tenen CANDIDATE +en Ossification affecting the external ear cartilage HP:0005103 IAO:0000115 nl Ossification affecting the external ear cartilage NOT_TRANSLATED +en Ossification affecting the set of cartilages of larynx HP:0008747 IAO:0000115 nl Ossification affecting the set of cartilages of larynx NOT_TRANSLATED +en Ossification of carpal bones at an abnormally early age HP:0004233 IAO:0000115 nl Ossification of carpal bones at an abnormally early age NOT_TRANSLATED +en Ossification of carpal bones occurs later than age-adjusted norms HP:0001216 IAO:0000115 nl Ossification of carpal bones occurs later than age-adjusted norms NOT_TRANSLATED +en Ossification of hand bones at an earlier age than normal HP:0004051 IAO:0000115 nl Ossification of hand bones at an earlier age than normal NOT_TRANSLATED +en Ossification of hand bones is less advanced than would be expected according to age-adjusted norms HP:0004052 IAO:0000115 nl Ossification of hand bones is less advanced than would be expected according to age-adjusted norms NOT_TRANSLATED +en Ossification of the humeral epiphysis at an earlier age than normal HP:0003893 IAO:0000115 nl Ossification of the humeral epiphysis at an earlier age than normal NOT_TRANSLATED +en Ossifying fibroma HP:0030426 rdfs:label nl Ossificerend fibroom CANDIDATE +en Ossifying fibroma of the jaw HP:0030427 rdfs:label nl Ossifying fibroom van de kaak CANDIDATE +en Osteoarthritis HP:0002758 rdfs:label nl Osteoarthritis CANDIDATE +en Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray HP:0030871 IAO:0000115 nl Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray NOT_TRANSLATED +en Osteoarthritis of the distal interphalangeal joint HP:0006233 rdfs:label nl Osteoartritis van het distale interfalangeale gewricht CANDIDATE +en Osteoarthritis of the elbow HP:0003940 rdfs:label nl Osteoartritis van de elleboog CANDIDATE +en Osteoarthritis of the first carpometacarpal joint HP:0006226 rdfs:label nl Osteoartritis van 1e carpometacarpale gewricht CANDIDATE +en Osteoarthritis of the metatarsophalangeal joint of the first toe HP:0025004 IAO:0000115 nl Osteoarthritis of the metatarsophalangeal joint of the first toe NOT_TRANSLATED +en Osteoarthritis of the small joints of the hand HP:0004268 rdfs:label nl Osteoartritis van de kleine gewrichten van de hand CANDIDATE +en Osteoblastoma HP:0011846 rdfs:label nl Osteoblastoom CANDIDATE +en Osteochondritis dissecans HP:0010886 rdfs:label nl Osteochondritis Dissecans CANDIDATE +en Osteochondroma HP:0030431 rdfs:label nl Osteochondroom CANDIDATE +en Osteochondrosis HP:0040188 rdfs:label nl Osteochondrose CANDIDATE +en Osteoid osteoma HP:0030433 rdfs:label nl Osteoïd osteoom CANDIDATE +en Osteolysis HP:0002797 rdfs:label nl Osteolyse CANDIDATE +en Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib HP:0034047 IAO:0000115 nl Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib NOT_TRANSLATED +en Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible HP:0034046 IAO:0000115 nl Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible NOT_TRANSLATED +en Osteolysis affecting carpal bones HP:0001495 IAO:0000115 nl Osteolysis affecting carpal bones NOT_TRANSLATED +en Osteolysis affecting the talus HP:0008095 IAO:0000115 nl Osteolysis affecting the talus NOT_TRANSLATED +en Osteolysis involving bones of the feet HP:0009134 rdfs:label nl Osteolyse waarbij de botten van de voeten betrokken zijn CANDIDATE +en Osteolysis involving bones of the lower limbs HP:0009139 rdfs:label nl Osteolyse waarbij de botten van de onderste ledematen betrokken zijn CANDIDATE +en Osteolysis involving bones of the upper limbs HP:0045039 rdfs:label nl Osteolyse waarbij de botten van de bovenste ledematen betrokken zijn CANDIDATE +en Osteolysis involving metatarsal bones HP:0001473 IAO:0000115 nl Osteolysis involving metatarsal bones NOT_TRANSLATED +en Osteolysis involving tarsal bones HP:0006234 rdfs:label nl Osteolyse waarbij tarsale botten betrokken zijn CANDIDATE +en Osteolysis of patellae HP:0006378 rdfs:label nl Osteolyse van patellae CANDIDATE +en Osteolysis of scaphoids HP:0006202 rdfs:label nl Osteolyse van scaphoïden CANDIDATE +en Osteolysis of talus HP:0008095 rdfs:label nl Osteolyse van talus CANDIDATE +en Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium HP:0002797 IAO:0000115 nl Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium NOT_TRANSLATED +en Osteolytic defect of the distal phalanx of the thumb HP:0009645 rdfs:label nl Osteolytisch defect van de distale falanx van de duim CANDIDATE +en Osteolytic defect of the proximal phalanx of the thumb HP:0009633 rdfs:label nl Osteolytisch defect van de proximale falanx van de duim CANDIDATE +en Osteolytic defect of the proximal toe phalanx HP:0010207 rdfs:label nl Osteolytisch defect van de proximale falanx van teen CANDIDATE +en Osteolytic defect of thumb phalanx HP:0009654 rdfs:label nl Osteolytisch defect van falanx van de duim CANDIDATE +en Osteolytic defects of the 1st metacarpal HP:0010030 rdfs:label nl Osteolytische defecten van de 1e metacarpaal CANDIDATE +en Osteolytic defects of the 1st metatarsal HP:0010071 rdfs:label nl Osteolytische defecten van de 1e metatarsaal CANDIDATE +en Osteolytic defects of the distal phalanges of the hand HP:0009839 rdfs:label nl Osteolytische defecten van de distale falangen van de hand CANDIDATE +en Osteolytic defects of the distal phalanges of the toes HP:0010189 rdfs:label nl Osteolytische defecten van de distale falangen van de tenen CANDIDATE +en Osteolytic defects of the distal phalanx of the 2nd finger HP:0009561 rdfs:label nl Osteolytische defecten van de distale falanx van de 2e vinger CANDIDATE +en Osteolytic defects of the distal phalanx of the 2nd toe HP:0010417 rdfs:label nl Osteolytisch defecten van de distale falanx van de 2e teen CANDIDATE +en Osteolytic defects of the distal phalanx of the 3rd finger HP:0009424 rdfs:label nl Osteolytisch defect van de distale falanx van de 3e vinger CANDIDATE +en Osteolytic defects of the distal phalanx of the 3rd toe HP:0100458 rdfs:label nl Osteolytisch defect van de distale falanx van de 3e teen CANDIDATE +en Osteolytic defects of the distal phalanx of the 4th finger HP:0009303 rdfs:label nl Osteolytisch defect van de distale falanx van de 4e vinger CANDIDATE +en Osteolytic defects of the distal phalanx of the 4th toe HP:0100459 rdfs:label nl Osteolytisch defect van de distale falanx van de 4e teen CANDIDATE +en Osteolytic defects of the distal phalanx of the 5th finger HP:0009242 rdfs:label nl Osteolytische defecten van de distale falanx van de 5e vinger CANDIDATE +en Osteolytic defects of the distal phalanx of the 5th toe HP:0100460 rdfs:label nl Osteolytisch defect van de distale falanx van de 5e teen CANDIDATE +en Osteolytic defects of the distal phalanx of the hallux HP:0010080 rdfs:label nl Osteolytisch defect van de distale falanx van de hallux CANDIDATE +en Osteolytic defects of the hand bones HP:0009699 rdfs:label nl Osteolytische defecten van de hand botten CANDIDATE +en Osteolytic defects of the middle phalanges of the hand HP:0009847 rdfs:label nl Osteolytische defecten van de middelste falangen van de hand CANDIDATE +en Osteolytic defects of the middle phalanges of the toes HP:0010198 rdfs:label nl Osteolytische defecten van de middelste falangen van de tenen CANDIDATE +en Osteolytic defects of the middle phalanx of the 2nd finger HP:0009572 rdfs:label nl Osteolytische defecten van de middelste falanx van de 2e vinger CANDIDATE +en Osteolytic defects of the middle phalanx of the 2nd toe HP:0010408 rdfs:label nl Osteolytisch defecten van de middelste falanx van de 2e teen CANDIDATE +en Osteolytic defects of the middle phalanx of the 3rd finger HP:0009433 rdfs:label nl Osteolytische defecten van de middelste falanx van de 3e vinger CANDIDATE +en Osteolytic defects of the middle phalanx of the 3rd toe HP:0100452 rdfs:label nl Osteolytisch defect van de middelste falanx van de 3e teen CANDIDATE +en Osteolytic defects of the middle phalanx of the 4th finger HP:0009297 rdfs:label nl Osteolytisch defect van de middelste falanx van de 4e vinger CANDIDATE +en Osteolytic defects of the middle phalanx of the 4th toe HP:0100453 rdfs:label nl Osteolytisch defect van de middelste falanx van de 4e teen CANDIDATE +en Osteolytic defects of the middle phalanx of the 5th finger HP:0009170 rdfs:label nl Osteolytische defecten van de middelste falanx van de 5e vinger CANDIDATE +en Osteolytic defects of the middle phalanx of the 5th toe HP:0100454 rdfs:label nl Osteolytisch defect van de middelste falanx van de 5e teen CANDIDATE +en Osteolytic defects of the phalanges of the 2nd finger HP:0009550 rdfs:label nl Osteolytische defecten van de falangen van de 2e vinger CANDIDATE +en Osteolytic defects of the phalanges of the 2nd toe HP:0010351 rdfs:label nl Osteolytische defecten van de falangen van de 2e teen CANDIDATE +en Osteolytic defects of the phalanges of the 3rd finger HP:0009443 rdfs:label nl Osteolytische defecten van de falangen van de 3e vinger CANDIDATE +en Osteolytic defects of the phalanges of the 3rd toe HP:0010363 rdfs:label nl Osteolytische defecten van de falangen van de 3e teen CANDIDATE +en Osteolytic defects of the phalanges of the 4th (ring) finger HP:0004195 IAO:0000115 nl Osteolytic defects of the phalanges of the 4th (ring) finger NOT_TRANSLATED +en Osteolytic defects of the phalanges of the 4th finger HP:0004195 rdfs:label nl Osteolytische defecten van de falangen van de 4e vinger CANDIDATE +en Osteolytic defects of the phalanges of the 4th toe HP:0010375 rdfs:label nl Osteolytische defecten van de falangen van de 4e teen CANDIDATE +en Osteolytic defects of the phalanges of the 5th finger HP:0004216 rdfs:label nl Osteolytisch defect van de falangen van de 5e vinger CANDIDATE +en Osteolytic defects of the phalanges of the 5th toe HP:0010387 rdfs:label nl Osteolytische defecten van de falangen van de 5e teen CANDIDATE +en Osteolytic defects of the phalanges of the hallux HP:0010062 rdfs:label nl Osteolytische defecten van de falangen van de hallux CANDIDATE +en Osteolytic defects of the phalanges of the hand HP:0009771 rdfs:label nl Osteolytische defecten van de falangen van de hand CANDIDATE +en Osteolytic defects of the phalanges of the toes HP:0010177 rdfs:label nl Osteolytische defecten van de falangen van de tenen CANDIDATE +en Osteolytic defects of the proximal phalanges of the hand HP:0009855 rdfs:label nl Osteolytische defecten van de proximale falangen van de hand CANDIDATE +en Osteolytic defects of the proximal phalanx of the 2nd finger HP:0009584 rdfs:label nl Osteolytische defecten van de proximale falanx van de 2e vinger CANDIDATE +en Osteolytic defects of the proximal phalanx of the 2nd toe HP:0010399 rdfs:label nl Osteolytische defecten van de proximale falanx van de 2e teen CANDIDATE +en Osteolytic defects of the proximal phalanx of the 3rd finger HP:0009453 rdfs:label nl Osteolytische defecten van de proximale falanx van de 3e vinger CANDIDATE +en Osteolytic defects of the proximal phalanx of the 3rd toe HP:0100455 rdfs:label nl Osteolytische defecten van de proximale falanx van de 3e teen CANDIDATE +en Osteolytic defects of the proximal phalanx of the 4th finger HP:0009312 rdfs:label nl Osteolytische defecten van de proximale falanx van de 4e vinger CANDIDATE +en Osteolytic defects of the proximal phalanx of the 4th toe HP:0100456 rdfs:label nl Osteolytische defecten van de proximale falanx van de 4e teen CANDIDATE +en Osteolytic defects of the proximal phalanx of the 5th finger HP:0009230 rdfs:label nl Osteolytische defecten van de proximale falanx van de 5e vinger CANDIDATE +en Osteolytic defects of the proximal phalanx of the 5th toe HP:0100457 rdfs:label nl Osteolytische defecten van de proximale falanx van de 5e teen CANDIDATE +en Osteolytic defects of the proximal phalanx of the hallux HP:0010089 rdfs:label nl Osteolytische defecten van de proximale falanx van de hallux CANDIDATE +en Osteoma HP:0100246 rdfs:label nl Osteoom CANDIDATE +en Osteoma cutis HP:0025027 rdfs:label nl Osteoma cutis CANDIDATE +en Osteomalacia HP:0002749 rdfs:label nl Osteomalacie CANDIDATE +en Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets HP:0002749 IAO:0000115 nl Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets NOT_TRANSLATED +en Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant HP:0100246 IAO:0000115 nl Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant NOT_TRANSLATED +en Osteomyelitis HP:0002754 rdfs:label nl Osteomyelitis CANDIDATE +en Osteomyelitis caused by infection with the bacteria, salmonella HP:0005661 IAO:0000115 nl Osteomyelitis caused by infection with the bacteria, salmonella NOT_TRANSLATED +en Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism HP:0002754 IAO:0000115 nl Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism NOT_TRANSLATED +en Osteomyelitis leading to amputation due to slow healing fractures HP:0005010 rdfs:label nl Osteomyelitis leidend tot amputatie vanwege langzame genezing fracturen CANDIDATE +en Osteomyelitis of the lower jaw HP:0007626 IAO:0000115 nl Osteomyelitis of the lower jaw NOT_TRANSLATED +en Osteopathia striata HP:0010740 rdfs:label nl Osteopathia striata CANDIDATE +en Osteopenia HP:0000938 rdfs:label nl Osteopenie CANDIDATE +en Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5 HP:0000938 IAO:0000115 nl Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5 NOT_TRANSLATED +en Osteopetrosis HP:0011002 rdfs:label nl Osteopetrose CANDIDATE +en Osteopoikilosis HP:0010739 rdfs:label nl Osteopoikilose CANDIDATE +en Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake HP:0010739 IAO:0000115 nl Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake NOT_TRANSLATED +en Osteoporosis HP:0000939 rdfs:label nl Osteoporose CANDIDATE +en Osteoporosis affecting predominantly the vertebrae HP:0005625 IAO:0000115 nl Osteoporosis affecting predominantly the vertebrae NOT_TRANSLATED +en Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD) HP:0000939 IAO:0000115 nl Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD) NOT_TRANSLATED +en Osteoporosis of vertebrae HP:0005625 rdfs:label nl Osteoporose van wervels CANDIDATE +en Osteoporotic forearm bones HP:0003964 rdfs:label nl Osteoporotische botten van onderarm CANDIDATE +en Osteoporotic humerus HP:0003876 rdfs:label nl Osteoporotische humerus CANDIDATE +en Osteoporotic metatarsal HP:0004699 rdfs:label nl Osteoporotische metatarsaal CANDIDATE +en Osteoporotic tarsals HP:0008076 rdfs:label nl Osteoporotische tarsalen CANDIDATE +en Osteosarcoma HP:0002669 rdfs:label nl Osteosarcoom CANDIDATE +en Osteosclerosis (increased density related to increased bone mass) of the ulna HP:0003991 IAO:0000115 nl Osteosclerosis (increased density related to increased bone mass) of the ulna NOT_TRANSLATED +en Osteosclerosis affecting one or more bones of the hand HP:0004054 IAO:0000115 nl Osteosclerosis affecting one or more bones of the hand NOT_TRANSLATED +en Osteosclerosis of ribs HP:0006634 rdfs:label nl Osteosclerose van ribben CANDIDATE +en Osteosclerosis of ribs (increased density related to increased bone mass) HP:0006634 IAO:0000115 nl Osteosclerosis of ribs (increased density related to increased bone mass) NOT_TRANSLATED +en Osteosclerosis of the base of the skull HP:0005746 rdfs:label nl Osteosclerose van de schedelbasis CANDIDATE +en Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones HP:0008114 IAO:0000115 nl Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones NOT_TRANSLATED +en Osteosclerosis of the radius HP:0040061 rdfs:label nl Osteosclerose van de radius CANDIDATE +en Osteosclerosis of the ulna HP:0003991 rdfs:label nl Osteosclerose van de ulna CANDIDATE +en Otitis externa HP:0410017 rdfs:label nl Otitis externa CANDIDATE +en Otitis media HP:0000388 rdfs:label nl Otitis media CANDIDATE +en Otitis media characterized by thick or sticky fluid behind the tympanic membrane HP:0031353 IAO:0000115 nl Otitis media characterized by thick or sticky fluid behind the tympanic membrane NOT_TRANSLATED +en Otitis media with effusion HP:0031353 rdfs:label nl Otitis media met effusie CANDIDATE +en Otosclerosis HP:0000362 rdfs:label nl Otosclerose CANDIDATE +en Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot HP:0004684 IAO:0000115 nl Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot NOT_TRANSLATED +en Oval face HP:0000300 rdfs:label nl Ovaal gelaat CANDIDATE +en Oval macrocytosis HP:0032566 rdfs:label nl Oval macrocytosis NOT_TRANSLATED +en Oval pupil HP:0025310 rdfs:label nl Ovale pupil CANDIDATE +en Oval transradiancy of humerus HP:0003877 rdfs:label nl Oval transradiancy of humerus NOT_TRANSLATED +en Ovarian carcinoma HP:0025318 rdfs:label nl Ovariumcarcinoom CANDIDATE +en Ovarian cyst HP:0000138 rdfs:label nl Ovariumcyste CANDIDATE +en Ovarian dermoid cyst HP:0025274 rdfs:label nl Ovariële dermoïd cyste CANDIDATE +en Ovarian fibroma HP:0010618 rdfs:label nl Ovarieel fibroom CANDIDATE +en Ovarian gonadoblastoma HP:0000149 rdfs:label nl Ovariële gonadoblastoma CANDIDATE +en Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma HP:0031494 IAO:0000115 nl Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma NOT_TRANSLATED +en Ovarian mucinous tumor HP:0031494 rdfs:label nl Mucineus ovariumcarcinoom CANDIDATE +en Ovarian neoplasm HP:0100615 rdfs:label nl Ovarieel neoplasma CANDIDATE +en Ovarian papillary adenocarcinoma HP:0006774 rdfs:label nl Ovarieel papillair adenocarcinoom CANDIDATE +en Ovarian serous cystadenoma HP:0012887 rdfs:label nl Ovarieel sereus cystadenoom CANDIDATE +en Ovarian sex cord-stromal tumor HP:0031918 rdfs:label nl Ovarian sex cord-stromal tumor NOT_TRANSLATED +en Ovarian teratoma HP:0012226 rdfs:label nl Ovarieel teratoom CANDIDATE +en Ovarian thecoma HP:0030983 rdfs:label nl Ovarieel thecoom CANDIDATE +en Ovarian torsion HP:0034503 rdfs:label nl Ovarian torsion NOT_TRANSLATED +en Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary HP:0034503 IAO:0000115 nl Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary NOT_TRANSLATED +en Over curvature of the lower thoracic region, leading to a round back or if sever to a hump HP:0004633 IAO:0000115 nl Over curvature of the lower thoracic region, leading to a round back or if sever to a hump NOT_TRANSLATED +en Over curvature of the lumbar region HP:0008454 IAO:0000115 nl Over curvature of the lumbar region NOT_TRANSLATED +en Over curvature of the thoracic region, leading to a round back or if sever to a hump HP:0002942 IAO:0000115 nl Over curvature of the thoracic region, leading to a round back or if sever to a hump NOT_TRANSLATED +en Over-sensitivity to certain frequency ranges of sound HP:0010780 IAO:0000115 nl Over-sensitivity to certain frequency ranges of sound NOT_TRANSLATED +en Overconstriction, or narrowness of the diaphysis and metaphysis of long bones HP:0006391 IAO:0000115 nl Overconstriction, or narrowness of the diaphysis and metaphysis of long bones NOT_TRANSLATED +en Overfolded helix HP:0000396 rdfs:label nl Overgevouwen helix CANDIDATE +en Overfolding of the superior helices HP:0004453 rdfs:label nl Overgevouwen superior helices CANDIDATE +en Overfriendliness HP:0100025 rdfs:label nl Overmatige vriendelijkheid CANDIDATE +en Overgrowth HP:0001548 rdfs:label nl Overmatige groei CANDIDATE +en Overgrowth of candida albicans in the penis HP:0033768 IAO:0000115 nl Overgrowth of candida albicans in the penis NOT_TRANSLATED +en Overgrowth of external genitalia HP:0003247 rdfs:label nl Overgroei van externe genitaliën CANDIDATE +en Overgrowth of fat in the perivesical and perirectal area HP:0034009 IAO:0000115 nl Overgrowth of fat in the perivesical and perirectal area NOT_TRANSLATED +en Overgrowth of only one arm HP:0100554 IAO:0000115 nl Overgrowth of only one arm NOT_TRANSLATED +en Overgrowth of only one leg HP:0100553 IAO:0000115 nl Overgrowth of only one leg NOT_TRANSLATED +en Overgrowth of only one side of the body HP:0001528 IAO:0000115 nl Overgrowth of only one side of the body NOT_TRANSLATED +en Overgrowth of the choroid plexus HP:0012422 IAO:0000115 nl Overgrowth of the choroid plexus NOT_TRANSLATED +en Overgrowth of the outer labia HP:0012882 IAO:0000115 nl Overgrowth of the outer labia NOT_TRANSLATED +en Overgrowth of the proximal part of the fibula HP:0005067 IAO:0000115 nl Overgrowth of the proximal part of the fibula NOT_TRANSLATED +en Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet HP:0200016 IAO:0000115 nl Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet NOT_TRANSLATED +en Overhanging nasal tip HP:0011833 rdfs:label nl Overhangende neuspunt CANDIDATE +en Overjet HP:0011095 rdfs:label nl Overjet CANDIDATE +en Overlapping fingers HP:0010557 rdfs:label nl Overlappende vingers CANDIDATE +en Overlapping toe HP:0001845 rdfs:label nl Overlappende teen CANDIDATE +en Overmodelled hand bones HP:0004285 rdfs:label nl Overmodelled hand bones NOT_TRANSLATED +en Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex HP:0011749 IAO:0000115 nl Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex NOT_TRANSLATED +en Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland HP:0000837 IAO:0000115 nl Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland NOT_TRANSLATED +en Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features HP:0003118 IAO:0000115 nl Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features NOT_TRANSLATED +en Overproduction of the mineralocorticoid aldosterone by the adrenal cortex HP:0000859 IAO:0000115 nl Overproduction of the mineralocorticoid aldosterone by the adrenal cortex NOT_TRANSLATED +en Overriding aorta HP:0002623 rdfs:label nl Overriding aorta CANDIDATE +en Overriding atrioventricular valve HP:0011561 rdfs:label nl Overrijdende atrioventriculaire klep CANDIDATE +en Overshoot of downward saccadic eye movements HP:0031832 IAO:0000115 nl Overshoot of downward saccadic eye movements NOT_TRANSLATED +en Overshoot of horizontal (sideways) saccadic eye movements HP:0032013 IAO:0000115 nl Overshoot of horizontal (sideways) saccadic eye movements NOT_TRANSLATED +en Overtubulated long bones HP:0006391 rdfs:label nl Overtubulated long bones NOT_TRANSLATED +en Overweight HP:0025502 rdfs:label nl Overgewicht CANDIDATE +en Ovoid thoracolumbar vertebrae HP:0003309 rdfs:label nl Eivormige thoracolumbale wervels CANDIDATE +en Ovoid vertebral bodies HP:0003300 rdfs:label nl Eivormige wervellichamen CANDIDATE +en Ovotestis HP:0012861 rdfs:label nl Ovotestis CANDIDATE +en Oxycephaly HP:0000263 rdfs:label nl Oxycefalie CANDIDATE +en Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull HP:0000263 IAO:0000115 nl Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull NOT_TRANSLATED +en Oxygen desaturation on exertion HP:0030874 rdfs:label nl Zuurstof desaturatie bij inspanning CANDIDATE +en Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa HP:0030874 IAO:0000115 nl Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa NOT_TRANSLATED +en P mitrale HP:0031599 rdfs:label nl P mitrale CANDIDATE +en P pulmonale HP:0031601 rdfs:label nl P pulmonale CANDIDATE +en P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves HP:0031600 IAO:0000115 nl P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves NOT_TRANSLATED +en P wave inversion HP:0031600 rdfs:label nl Inversie van de P-golf CANDIDATE +en PR segment depression HP:0031594 rdfs:label nl PR-segment depressie CANDIDATE +en PR segment elevation HP:0031597 rdfs:label nl PR-segment elevatie CANDIDATE +en Pace of progression HP:0003679 rdfs:label nl Tempo van progressie CANDIDATE +en Pachygyria HP:0001302 rdfs:label nl Pachygyrie CANDIDATE +en Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly HP:0001302 IAO:0000115 nl Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly NOT_TRANSLATED +en Pachygyria with 5-10 mm cortical thickness HP:0020192 rdfs:label nl Pachygyria with 5-10 mm cortical thickness NOT_TRANSLATED +en Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age HP:0020192 IAO:0000115 nl Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age NOT_TRANSLATED +en Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age HP:0020187 IAO:0000115 nl Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age NOT_TRANSLATED +en Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria HP:0020189 IAO:0000115 nl Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED +en Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria HP:0020188 IAO:0000115 nl Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED +en Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria HP:0020190 IAO:0000115 nl Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria NOT_TRANSLATED +en Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes HP:0020191 IAO:0000115 nl Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes NOT_TRANSLATED +en Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity HP:0032457 IAO:0000115 nl Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity NOT_TRANSLATED +en Paget disease of bone HP:0034159 rdfs:label nl Paget disease of bone NOT_TRANSLATED +en Pain HP:0012531 rdfs:label nl Pijn CANDIDATE +en Pain (An unpleasant sensory and emotional experience) along the course of a nerve HP:0033345 IAO:0000115 nl Pain (An unpleasant sensory and emotional experience) along the course of a nerve NOT_TRANSLATED +en Pain characteristic HP:0025280 rdfs:label nl Pijn kenmerk CANDIDATE +en Pain due to a stimulus that does not normally provoke pain HP:0012533 IAO:0000115 nl Pain due to a stimulus that does not normally provoke pain NOT_TRANSLATED +en Pain during menstruation that interferes with daily activities HP:0100607 IAO:0000115 nl Pain during menstruation that interferes with daily activities NOT_TRANSLATED +en Pain experienced with swallowing HP:0032043 IAO:0000115 nl Pain experienced with swallowing NOT_TRANSLATED +en Pain in and around the anus or rectum (perianal region) HP:0500005 IAO:0000115 nl Pain in and around the anus or rectum (perianal region) NOT_TRANSLATED +en Pain in head and neck region HP:0046506 rdfs:label nl Pain in head and neck region NOT_TRANSLATED +en Pain in muscle HP:0003326 IAO:0000115 nl Pain in muscle NOT_TRANSLATED +en Pain in the breast HP:0034265 IAO:0000115 nl Pain in the breast NOT_TRANSLATED +en Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia) HP:0030766 IAO:0000115 nl Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia) NOT_TRANSLATED +en Pain in the jaw or ear induced by chewing or otherwise moving the jaw HP:0030164 IAO:0000115 nl Pain in the jaw or ear induced by chewing or otherwise moving the jaw NOT_TRANSLATED +en Pain in the lower back and hip radiating in the distribution of the sciatic nerve HP:0011868 IAO:0000115 nl Pain in the lower back and hip radiating in the distribution of the sciatic nerve NOT_TRANSLATED +en Pain in the vulvar area HP:0030943 IAO:0000115 nl Pain in the vulvar area NOT_TRANSLATED +en Pain insensitivity HP:0007021 rdfs:label nl Ongevoeligheid voor pijn CANDIDATE +en Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain HP:0010832 IAO:0000115 nl Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain NOT_TRANSLATED +en Pain of the gastrocnemius muscle HP:0031921 IAO:0000115 nl Pain of the gastrocnemius muscle NOT_TRANSLATED +en Pain or discomfort of the scalp elicited by palpation HP:0100809 IAO:0000115 nl Pain or discomfort of the scalp elicited by palpation NOT_TRANSLATED +en Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones HP:0034267 IAO:0000115 nl Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones NOT_TRANSLATED +en Pain that is localized to the region of the upper abdomen immediately below the ribs HP:0410019 IAO:0000115 nl Pain that is localized to the region of the upper abdomen immediately below the ribs NOT_TRANSLATED +en Painful or difficult urination HP:0100518 IAO:0000115 nl Painful or difficult urination NOT_TRANSLATED +en Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds HP:0012534 IAO:0000115 nl Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds NOT_TRANSLATED +en Painful subcutaneous lipomas HP:0007596 rdfs:label nl Pijnlijke subcutane lipomen CANDIDATE +en Painless and spontaneous separation of a toenail from the nail bed HP:0040040 IAO:0000115 nl Painless and spontaneous separation of a toenail from the nail bed NOT_TRANSLATED +en Painless fractures due to injury HP:0002661 rdfs:label nl Pijloze fracturen vanwege trauma CANDIDATE +en Palatal edema HP:0031089 rdfs:label nl Palataal oedeem CANDIDATE +en Palatal tremor HP:0010530 rdfs:label nl Myoclonus van gehemelte CANDIDATE +en Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral HP:0010530 IAO:0000115 nl Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral NOT_TRANSLATED +en Palate fistula HP:0010294 rdfs:label nl Fistel van palatum CANDIDATE +en Palate mass HP:0034413 rdfs:label nl Palate mass NOT_TRANSLATED +en Palate neoplasm HP:0031366 rdfs:label nl Palatum neoplasma CANDIDATE +en Palate telangiectasia HP:0002707 rdfs:label nl Palatum teleangiëctasieën CANDIDATE +en Pale often indistinct lesions of the macula HP:0011507 IAO:0000115 nl Pale often indistinct lesions of the macula NOT_TRANSLATED +en Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus HP:0011137 IAO:0000115 nl Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus NOT_TRANSLATED +en Palilalia HP:0031814 rdfs:label nl Palilalia NOT_TRANSLATED +en Pallidal degeneration HP:0007132 rdfs:label nl Pallidus degeneratie CANDIDATE +en Pallor HP:0000980 rdfs:label nl Bleekheid CANDIDATE +en Pallor of dorsal columns of the spinal cord HP:0006825 rdfs:label nl Bleekheid van dorsale kolommen van het ruggenmerg CANDIDATE +en Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula HP:0010729 IAO:0000115 nl Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula NOT_TRANSLATED +en Palmar edema HP:0025538 rdfs:label nl Palmair oedeem CANDIDATE +en Palmar hyperhidrosis HP:0006089 rdfs:label nl Palmaire hyperhidrose CANDIDATE +en Palmar hyperkeratosis HP:0010765 rdfs:label nl Palmaire hyperkeratose CANDIDATE +en Palmar hyperlinearity HP:0033252 rdfs:label nl Palmar hyperlinearity NOT_TRANSLATED +en Palmar neurofibromas HP:0007576 rdfs:label nl Palmaire neurofibromen CANDIDATE +en Palmar pits HP:0010610 rdfs:label nl Palmaire pits CANDIDATE +en Palmar pruritus HP:0031248 rdfs:label nl Palmaire pruritus CANDIDATE +en Palmar telangiectasia HP:0100869 rdfs:label nl Palmaire teleangiëctasieën CANDIDATE +en Palmar warts HP:0033004 rdfs:label nl Palmar warts NOT_TRANSLATED +en Palmomental reflex HP:0030902 rdfs:label nl Palmomentale reflex CANDIDATE +en Palmoplantar blistering HP:0007446 rdfs:label nl Palmoplantaire blaarvorming CANDIDATE +en Palmoplantar cutis gyrata HP:0007469 rdfs:label nl Palmoplantaire cutis gyrata CANDIDATE +en Palmoplantar cutis laxa HP:0007517 rdfs:label nl Palmoplantaire cutis laxa CANDIDATE +en Palmoplantar erythema HP:0025493 rdfs:label nl Palmoplantair erytheem CANDIDATE +en Palmoplantar hyperhidrosis HP:0007410 rdfs:label nl Palmoplantaire hyperhidrosis CANDIDATE +en Palmoplantar hyperkeratosis HP:0000972 rdfs:label nl Palmoplantaire hyperkeratose CANDIDATE +en Palmoplantar hypohidrosis HP:0034012 rdfs:label nl Palmoplantar hypohidrosis NOT_TRANSLATED +en Palmoplantar keratoderma HP:0000982 rdfs:label nl Palmoplantaire keratoderma CANDIDATE +en Palmoplantar pustulosis HP:0100847 rdfs:label nl Palmoplantaire pustulose CANDIDATE +en Palmoplantar scaling skin HP:0025524 rdfs:label nl Palmoplantar scaling skin NOT_TRANSLATED +en Palpable purpura HP:0031363 rdfs:label nl Palpabele purpura CANDIDATE +en Palpebral edema HP:0100540 rdfs:label nl Palpebraal oedeem CANDIDATE +en Palpebral fissure narrowing on adduction HP:0000661 rdfs:label nl Oogspleetvernauwing op adductie CANDIDATE +en Palpebral thickening HP:0030939 rdfs:label nl Palpebrale verdikking CANDIDATE +en Palpitations HP:0001962 rdfs:label nl Hartkloppingen CANDIDATE +en Panacinar emphysema HP:0032967 rdfs:label nl Panacinar emphysema NOT_TRANSLATED +en Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis HP:0032967 IAO:0000115 nl Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis NOT_TRANSLATED +en Pancolitis HP:0033256 rdfs:label nl Pancolitis NOT_TRANSLATED +en Pancreas divisum HP:0030994 rdfs:label nl Pancreas divisum CANDIDATE +en Pancreatic abscess HP:0025079 rdfs:label nl Pancreatisch abces CANDIDATE +en Pancreatic adenocarcinoma HP:0006725 rdfs:label nl Pancreatisch adenocarcinoom CANDIDATE +en Pancreatic alpha-cell hyperplasia HP:4000061 rdfs:label nl Pancreatic alpha-cell hyperplasia NOT_TRANSLATED +en Pancreatic aplasia HP:0100801 rdfs:label nl Pancreatische aplasie CANDIDATE +en Pancreatic atrophy HP:6000156 rdfs:label nl Alvleesklieratrofie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Pancreatic calcification HP:0005213 rdfs:label nl Pancreatische calcificatie CANDIDATE +en Pancreatic cysts HP:0001737 rdfs:label nl Pancreatische cysten CANDIDATE +en Pancreatic dysplasia HP:0005232 rdfs:label nl Pancreatische dysplasie CANDIDATE +en Pancreatic endocrine tumor HP:0030405 rdfs:label nl Pancreatische endocriene tumor CANDIDATE +en Pancreatic fibrosis HP:0100732 rdfs:label nl Pancreatische fibrose CANDIDATE +en Pancreatic fistula HP:0100844 rdfs:label nl Pancreatische fistel CANDIDATE +en Pancreatic hyperplasia HP:0006277 rdfs:label nl Pancreatische hyperplasie CANDIDATE +en Pancreatic hypoplasia HP:0002594 rdfs:label nl Pancreatische hypoplasie CANDIDATE +en Pancreatic islet cell adenoma HP:0008261 rdfs:label nl Eilandjes van Langerhans adenoom CANDIDATE +en Pancreatic islet-cell hyperplasia HP:0004510 rdfs:label nl Eilandjes van Langerhans hyperplasie CANDIDATE +en Pancreatic lymphangiectasis HP:0006273 rdfs:label nl Pancreatische lymfangiectasieën CANDIDATE +en Pancreatic pseudocyst HP:0005206 rdfs:label nl Pancreatische pseudocyste CANDIDATE +en Pancreatic squamous cell carcinoma HP:0012142 rdfs:label nl Pancreas plaveiselcelcarcinoom CANDIDATE +en Pancreatic steatosis HP:0033757 rdfs:label nl Pancreatic steatosis NOT_TRANSLATED +en Pancreatitis HP:0001733 rdfs:label nl Pancreatitis CANDIDATE +en Pancreatoblastoma HP:0100757 rdfs:label nl Pancreatoblastoom CANDIDATE +en Pancytopenia HP:0001876 rdfs:label nl Pancytopenie CANDIDATE +en Panhypogammaglobulinemia HP:0003139 rdfs:label nl Panhypogammaglobulinemie CANDIDATE +en Panhypopituitarism HP:0000871 rdfs:label nl Panhypopituitarisme CANDIDATE +en Panic attack HP:0025269 rdfs:label nl Paniekaanval CANDIDATE +en Panniculitis HP:0012490 rdfs:label nl Panniculitis CANDIDATE +en Pansynostosis HP:0011325 rdfs:label nl Pansynostose CANDIDATE +en Panuveitis HP:0012121 rdfs:label nl Panuveïtis CANDIDATE +en Papillary cystadenoma of the epididymis HP:0009715 rdfs:label nl Papillair cystadenoom van de epididymis CANDIDATE +en Papillary renal cell carcinoma HP:0006766 rdfs:label nl Papillaire niercelcarcinoom CANDIDATE +en Papillary renal cell carcinoma type 1 HP:0011797 rdfs:label nl Papillair niercelcarcinoom type 1 CANDIDATE +en Papillary renal cell carcinoma type 2 HP:0006732 rdfs:label nl Papillair niercelcarcinoom type 2 CANDIDATE +en Papillary thyroid carcinoma HP:0002895 rdfs:label nl Papillair schildklier carcinoom CANDIDATE +en Papilledema HP:0001085 rdfs:label nl Papil oedeem CANDIDATE +en Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure HP:0001085 IAO:0000115 nl Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure NOT_TRANSLATED +en Papilloma HP:0012740 rdfs:label nl Papilloom CANDIDATE +en Pappenheimer bodies HP:0020081 rdfs:label nl Pappenheimer bodies NOT_TRANSLATED +en Papule HP:0200034 rdfs:label nl Papel CANDIDATE +en Papulovesicular eruption HP:0033700 rdfs:label nl Papulovesicular eruption NOT_TRANSLATED +en Paracentral HP:0030647 rdfs:label nl Paracentraal CANDIDATE +en Paracentral scotoma HP:0030528 rdfs:label nl Paracentraal scotoom CANDIDATE +en Parachute mitral valve HP:0011571 rdfs:label nl Parachute mitral valve NOT_TRANSLATED +en Paradoxical embolism HP:0033520 rdfs:label nl Paradoxical embolism NOT_TRANSLATED +en Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke HP:0033520 IAO:0000115 nl Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.nComment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke NOT_TRANSLATED +en Paradoxical increased cortisol secretion on dexamethasone suppression test HP:0003466 rdfs:label nl Paradoxaal verhoogde cortisol secretie bij dexamethason onderdrukkingstest CANDIDATE +en Paradoxical myotonia HP:0011809 rdfs:label nl Paradoxale myotonie CANDIDATE +en Paradoxical respiration HP:0030207 rdfs:label nl Paradoxical respiration NOT_TRANSLATED +en Paradoxical splitting of the second heart sound HP:0031663 rdfs:label nl Paradoxale splijting van tweede harttoon CANDIDATE +en Parafoveal fixation HP:0031768 rdfs:label nl Parafoveale fixatie CANDIDATE +en Paraganglioma HP:0002668 rdfs:label nl Paraganglioom CANDIDATE +en Paraganglioma of head and neck HP:0002864 rdfs:label nl Paraganglioom van hoofd en nek CANDIDATE +en Parageusia HP:0031249 rdfs:label nl Parageusie CANDIDATE +en Parakeratosis HP:0001036 rdfs:label nl Parakeratose CANDIDATE +en Paralysis HP:0003470 rdfs:label nl Paralyse CANDIDATE +en Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body HP:0002301 IAO:0000115 nl Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body NOT_TRANSLATED +en Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord HP:0002445 IAO:0000115 nl Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord NOT_TRANSLATED +en Paralysis of both the extrinsic and intrinsic ocular muscles HP:0007824 IAO:0000115 nl Paralysis of both the extrinsic and intrinsic ocular muscles NOT_TRANSLATED +en Paralysis of one or more extraocular muscles that are responsible for eye movements HP:0000602 IAO:0000115 nl Paralysis of one or more extraocular muscles that are responsible for eye movements NOT_TRANSLATED +en Paralysis of the external ocular muscles HP:0000544 IAO:0000115 nl Paralysis of the external ocular muscles NOT_TRANSLATED +en Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve HP:0007285 IAO:0000115 nl Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve NOT_TRANSLATED +en Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly HP:0007011 IAO:0000115 nl Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly NOT_TRANSLATED +en Paralysis of the iris and ciliary apparatus HP:0007942 IAO:0000115 nl Paralysis of the iris and ciliary apparatus NOT_TRANSLATED +en Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement HP:0003470 IAO:0000115 nl Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement NOT_TRANSLATED +en Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons HP:0010549 IAO:0000115 nl Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons NOT_TRANSLATED +en Paralytic ectropion HP:0500069 rdfs:label nl Paralytic ectropion NOT_TRANSLATED +en Paralytic ileus HP:0002590 rdfs:label nl Paralytische ileus CANDIDATE +en Paralytic lagophthalmos HP:0030003 rdfs:label nl Paralytische lagophthalmos CANDIDATE +en Paramedian facial cleft HP:0031571 rdfs:label nl Paramediane faciale schisis CANDIDATE +en Paramedian lip pit HP:0100269 rdfs:label nl Paramediane lip pit CANDIDATE +en Paramesangial deposits HP:0033233 rdfs:label nl Paramesangial deposits NOT_TRANSLATED +en Paranasal sinus hypoplasia HP:0006784 rdfs:label nl Paranasale sinus hypoplasie CANDIDATE +en Paranasal sinus neoplasm HP:0030072 rdfs:label nl Paranasale sinus neoplasma CANDIDATE +en Paranoia HP:0011999 rdfs:label nl Paranoia CANDIDATE +en Paraparesis HP:0002385 rdfs:label nl Paraparese CANDIDATE +en Paraphimosis HP:0100588 rdfs:label nl Paraphimosis CANDIDATE +en Paraplegia HP:0010550 rdfs:label nl Paraplegie CANDIDATE +en Paraplegia/paraparesis HP:0010551 rdfs:label nl Paraplegie/paraparese CANDIDATE +en Paraproteinemia HP:0031047 rdfs:label nl Paraproteinemie CANDIDATE +en Parasagittal parieto-occipital polymicrogyria HP:0032415 rdfs:label nl Parasagittal parieto-occipital polymicrogyria NOT_TRANSLATED +en Paraseptal HP:0033814 rdfs:label nl Paraseptal NOT_TRANSLATED +en Paraseptal emphysema HP:0033649 rdfs:label nl Paraseptal emphysema NOT_TRANSLATED +en Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae HP:0033649 IAO:0000115 nl Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae NOT_TRANSLATED +en Parasite allergy HP:0410337 rdfs:label nl Parasite allergy NOT_TRANSLATED +en Parasomnia HP:0025234 rdfs:label nl Parasomnie CANDIDATE +en Paraspinal hemangioma HP:0410274 rdfs:label nl Paraspinal hemangioma NOT_TRANSLATED +en Paraspinal muscle hypertrophy HP:0012894 rdfs:label nl Paraspinale spier hypertrofie CANDIDATE +en Paraspinal neurofibromas HP:0006751 rdfs:label nl Paraspinale neurofibromen CANDIDATE +en Parathormone-independent increased renal tubular calcium reabsorption HP:0003529 rdfs:label nl Parathormoon-onafhankelijke verhoogde renale tubulaire calcium reabsorptie CANDIDATE +en Parathyroid adenoma HP:0002897 rdfs:label nl Parathyroid adenoom CANDIDATE +en Parathyroid agenesis HP:0008211 rdfs:label nl Bijschildklier agenesie CANDIDATE +en Parathyroid carcinoma HP:0006780 rdfs:label nl Parathyroid carcinoom CANDIDATE +en Parathyroid dysgenesis HP:0011768 rdfs:label nl Bijschildklier dysgenesie CANDIDATE +en Parathyroid hyperplasia HP:0008208 rdfs:label nl Bijschildklier hyperplasie CANDIDATE +en Parathyroid hypoplasia HP:0000860 rdfs:label nl Parathyroide hypoplasie CANDIDATE +en Paratracheal lymphadenopathy HP:0033280 rdfs:label nl Paratracheal lymphadenopathy NOT_TRANSLATED +en Paravenous chorioretinal atrophy HP:0007903 rdfs:label nl Paraveneuze chorioretinale atrofie CANDIDATE +en Parenchymal consolidation HP:0032177 rdfs:label nl Parenchymal consolidation NOT_TRANSLATED +en Paresis of extensor muscles of the big toe HP:0002601 rdfs:label nl Parese van de extensor spier van de grote teen CANDIDATE +en Paresthesia HP:0003401 rdfs:label nl Paresthesie CANDIDATE +en Parietal bossing HP:0000242 rdfs:label nl Pariëtale opdruk CANDIDATE +en Parietal bossing is a marked prominence in the parietal region HP:0000242 IAO:0000115 nl Parietal bossing is a marked prominence in the parietal region NOT_TRANSLATED +en Parietal cortical atrophy HP:0012104 rdfs:label nl Pariëtale corticale atrofie CANDIDATE +en Parietal encephalocele HP:0011816 rdfs:label nl Pariëtale encefalocele CANDIDATE +en Parietal foramina HP:0002697 rdfs:label nl Foramen parietale CANDIDATE +en Parietal hypometabolism in FDG PET HP:0012662 rdfs:label nl Pariëtaal hypometabolisme op FDG-PET CANDIDATE +en Parietal meningocele HP:0030730 rdfs:label nl Pariëtale meningocele CANDIDATE +en Parkinsonism HP:0001300 rdfs:label nl Ziekte van Parkinson CANDIDATE +en Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication HP:0002548 IAO:0000115 nl Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication NOT_TRANSLATED +en Parkinsonism with favorable response to dopaminergic medication HP:0002548 rdfs:label nl Ziekte van Parkinson met gunstige reactie op de dopaminerge medicatie CANDIDATE +en Paronychia HP:0001818 rdfs:label nl Paronychia CANDIDATE +en Parosmia HP:0034004 rdfs:label nl Parosmia NOT_TRANSLATED +en Parotitis HP:0011850 rdfs:label nl Parotitis CANDIDATE +en Paroxysmal atrial fibrillation HP:0004757 rdfs:label nl Paroxysmaal atriumfibrilleren CANDIDATE +en Paroxysmal atrial tachycardia HP:0006671 rdfs:label nl Paroxysmale atriale tachycardie CANDIDATE +en Paroxysmal bursts of laughter HP:0000749 rdfs:label nl Paroxysmale uitbarstingen van gelach CANDIDATE +en Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia HP:0001681 IAO:0000115 nl Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia NOT_TRANSLATED +en Paroxysmal choreoathetosis HP:0007098 rdfs:label nl Paroxysmale choreoathetose CANDIDATE +en Paroxysmal drowsiness HP:0002330 rdfs:label nl Paroxysmale slaperigheid CANDIDATE +en Paroxysmal dyskinesia HP:0007166 rdfs:label nl Paroxysmale dyskinesie CANDIDATE +en Paroxysmal dyspnea HP:0012763 rdfs:label nl Paroxysmale dyspnoe CANDIDATE +en Paroxysmal dystonia HP:0002268 rdfs:label nl Paroxysmale dystonie CANDIDATE +en Paroxysmal episodes of vertigo HP:0010532 IAO:0000115 nl Paroxysmal episodes of vertigo NOT_TRANSLATED +en Paroxysmal involuntary eye movements HP:0007704 rdfs:label nl Paroxysmale onwillekeurige oogbewegingen CANDIDATE +en Paroxysmal lethargy HP:0011973 rdfs:label nl Paroxysmale lethargie CANDIDATE +en Paroxysmal nocturnal hemoglobinuria HP:0004818 rdfs:label nl Paroxysmale nachtelijke hemoglobinurie CANDIDATE +en Paroxysmal rectal pain HP:0032150 rdfs:label nl Paroxysmal rectal pain NOT_TRANSLATED +en Paroxysmal sneezing HP:0025096 rdfs:label nl Paroxysmaal niezen CANDIDATE +en Paroxysmal supraventricular tachycardia HP:0004763 rdfs:label nl Paroxysmale supraventriculaire tachycardie CANDIDATE +en Paroxysmal tachycardia HP:0006688 rdfs:label nl Paroxysmale tachycardie CANDIDATE +en Paroxysmal tonic upgaze HP:0033980 rdfs:label nl Paroxysmal tonic upgaze NOT_TRANSLATED +en Paroxysmal ventricular tachycardia HP:0004751 rdfs:label nl Paroxysmale ventriculaire tachycardie CANDIDATE +en Paroxysmal vertigo HP:0010532 rdfs:label nl Paroxysmale vertigo CANDIDATE +en Paroxysmal, recurrent episodes of vomiting HP:0002572 IAO:0000115 nl Paroxysmal, recurrent episodes of vomiting NOT_TRANSLATED +en Part-solid pulmonary nodule HP:0033611 rdfs:label nl Part-solid pulmonary nodule NOT_TRANSLATED +en Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized HP:0033611 IAO:0000115 nl Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized NOT_TRANSLATED +en Partail or complete duplication of the first metacarpal bone HP:0009609 IAO:0000115 nl Partail or complete duplication of the first metacarpal bone NOT_TRANSLATED +en Partial IgA deficiency HP:0011837 rdfs:label nl Partiële IgA-deficiëntie CANDIDATE +en Partial abdominal muscle agenesis HP:0005243 rdfs:label nl Partiële abdominale spier agenesie CANDIDATE +en Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot HP:0030728 IAO:0000115 nl Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot NOT_TRANSLATED +en Partial absence of cerebellar vermis HP:0002951 rdfs:label nl Partiële afwezigheid van de vermis CANDIDATE +en Partial absence of finger HP:0011299 rdfs:label nl Partiële afwezigheid van vinger CANDIDATE +en Partial absence of foot HP:0030032 rdfs:label nl Partiële afwezigheid van voet CANDIDATE +en Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine HP:0410305 rdfs:label nl Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine NOT_TRANSLATED +en Partial absence of specific antibody response to hepatitis B vaccine HP:0410298 rdfs:label nl Partial absence of specific antibody response to hepatitis B vaccine NOT_TRANSLATED +en Partial absence of specific antibody response to meningococcus vaccine HP:0410306 rdfs:label nl Partial absence of specific antibody response to meningococcus vaccine NOT_TRANSLATED +en Partial absence of specific antibody response to tetanus vaccine HP:0410297 rdfs:label nl Partial absence of specific antibody response to tetanus vaccine NOT_TRANSLATED +en Partial absence of specific antibody response to unconjugated pneumococcus vaccine HP:0410301 rdfs:label nl Partial absence of specific antibody response to unconjugated pneumococcus vaccine NOT_TRANSLATED +en Partial absence of the septum pellucidum HP:0030283 rdfs:label nl Partiële afwezigheid van het septum pellucidum CANDIDATE +en Partial absence of thumb HP:0009659 rdfs:label nl Partiële afwezigheid van de duim CANDIDATE +en Partial absence of toe HP:0011305 rdfs:label nl Partiële afwezigheid van teen CANDIDATE +en Partial agenesis of the corpus callosum HP:0001338 rdfs:label nl Partiële agenesie van het corpus callosum CANDIDATE +en Partial albinism HP:0007443 rdfs:label nl Partieel albinisme CANDIDATE +en Partial anomalous pulmonary venous return HP:0010773 rdfs:label nl Partieel abnormale pulmonale veneuze return CANDIDATE +en Partial anosmia HP:0010633 rdfs:label nl Partiële anosmie CANDIDATE +en Partial atrioventricular canal defect HP:0011577 rdfs:label nl Partieel atrioventriculair kanaaldefect CANDIDATE +en Partial beta-EEG HP:0011180 rdfs:label nl Partieel beta-EEG CANDIDATE +en Partial complement factor H deficiency HP:0008290 rdfs:label nl Partiële complement factor H deficiëntie CANDIDATE +en Partial development of the penile shaft HP:0008708 rdfs:label nl Partiële ontwikkeling van de schaft van de penis CANDIDATE +en Partial diaphragmatic absence of pericardium HP:0011635 rdfs:label nl Partiële diafragmatische afwezigheid van het pericardium CANDIDATE +en Partial dislocation of the atlantoaxial joint HP:0003414 IAO:0000115 nl Partial dislocation of the atlantoaxial joint NOT_TRANSLATED +en Partial dislocation of the head of the radius HP:0003048 IAO:0000115 nl Partial dislocation of the head of the radius NOT_TRANSLATED +en Partial dislocation of the head of the radius in the posterior direction HP:0005739 IAO:0000115 nl Partial dislocation of the head of the radius in the posterior direction NOT_TRANSLATED +en Partial dislocation of the lens in a superior direction HP:0008019 IAO:0000115 nl Partial dislocation of the lens in a superior direction NOT_TRANSLATED +en Partial dislocation of the lens of the eye HP:0001132 IAO:0000115 nl Partial dislocation of the lens of the eye NOT_TRANSLATED +en Partial dislocation of the ulna in the dorsal direction HP:0006459 IAO:0000115 nl Partial dislocation of the ulna in the dorsal direction NOT_TRANSLATED +en Partial displacement of the lens in the inferior direction HP:0008494 IAO:0000115 nl Partial displacement of the lens in the inferior direction NOT_TRANSLATED +en Partial duplication of a phalanx of second toe HP:0010428 IAO:0000115 nl Partial duplication of a phalanx of second toe NOT_TRANSLATED +en Partial duplication of distal phalanx of third toe HP:0100416 IAO:0000115 nl Partial duplication of distal phalanx of third toe NOT_TRANSLATED +en Partial duplication of eyebrows HP:0045018 rdfs:label nl Partiële duplicatie van wenkbrauwen CANDIDATE +en Partial duplication of middle phalanx of fourth toe HP:0100420 IAO:0000115 nl Partial duplication of middle phalanx of fourth toe NOT_TRANSLATED +en Partial duplication of middle phalanx of second toe HP:0010427 IAO:0000115 nl Partial duplication of middle phalanx of second toe NOT_TRANSLATED +en Partial duplication of middle phalanx of third toe HP:0100419 IAO:0000115 nl Partial duplication of middle phalanx of third toe NOT_TRANSLATED +en Partial duplication of phalanx of the 2nd toe HP:0010428 rdfs:label nl Partiële duplicatie van de middelste falanx van de 2e teen CANDIDATE +en Partial duplication of proximal phalanx of second toe HP:0010423 IAO:0000115 nl Partial duplication of proximal phalanx of second toe NOT_TRANSLATED +en Partial duplication of proximal phalanx of third toe HP:0100422 IAO:0000115 nl Partial duplication of proximal phalanx of third toe NOT_TRANSLATED +en Partial duplication of the 1st metatarsal HP:0010099 rdfs:label nl Partiële duplicatie van de 1e metatarsaal CANDIDATE +en Partial duplication of the distal phalanges of the hand HP:0010004 rdfs:label nl Partiële duplicatie van de distale falangen van de hand CANDIDATE +en Partial duplication of the distal phalanx of fourth toe HP:0100417 IAO:0000115 nl Partial duplication of the distal phalanx of fourth toe NOT_TRANSLATED +en Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx HP:0009951 IAO:0000115 nl Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx HP:0009994 IAO:0000115 nl Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the distal phalanx of little toe HP:0100418 IAO:0000115 nl Partial duplication of the distal phalanx of little toe NOT_TRANSLATED +en Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx HP:0009968 IAO:0000115 nl Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx HP:0009981 IAO:0000115 nl Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the distal phalanx of second toe HP:0010425 IAO:0000115 nl Partial duplication of the distal phalanx of second toe NOT_TRANSLATED +en Partial duplication of the distal phalanx of the 2nd finger HP:0009951 rdfs:label nl Partiële duplicatie van de distale falanx van de 2e vinger CANDIDATE +en Partial duplication of the distal phalanx of the 2nd toe HP:0010425 rdfs:label nl Partiële duplicatie van de distale falanx van de 2e teen CANDIDATE +en Partial duplication of the distal phalanx of the 3rd finger HP:0009968 rdfs:label nl Partiële duplicatie van de distale falanx van de 3e vinger CANDIDATE +en Partial duplication of the distal phalanx of the 3rd toe HP:0100416 rdfs:label nl Partiële duplicatie van de distale falanx van de 3e teen CANDIDATE +en Partial duplication of the distal phalanx of the 4th finger HP:0009981 rdfs:label nl Partiële duplicatie van de distale falanx van de 4e vinger CANDIDATE +en Partial duplication of the distal phalanx of the 4th toe HP:0100417 rdfs:label nl Partiële duplicatie van de distale falanx van de 4e teen CANDIDATE +en Partial duplication of the distal phalanx of the 5th finger HP:0009994 rdfs:label nl Partiële duplicatie van de distale falanx van de 5e vinger CANDIDATE +en Partial duplication of the distal phalanx of the 5th toe HP:0100418 rdfs:label nl Partiële duplicatie van de distale falanx van de 5e teen CANDIDATE +en Partial duplication of the distal phalanx of the hallux HP:0010097 rdfs:label nl Partiële duplicatie van de distale falanx van de hallux CANDIDATE +en Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones HP:0009611 IAO:0000115 nl Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones NOT_TRANSLATED +en Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx HP:0009995 IAO:0000115 nl Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the first metacarpal bone HP:0009616 IAO:0000115 nl Partial duplication of the first metacarpal bone NOT_TRANSLATED +en Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx HP:0009983 IAO:0000115 nl Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the middle phalanges of the hand HP:0010005 rdfs:label nl Partiële duplicatie van de middelste falangen van de hand CANDIDATE +en Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx HP:0009953 IAO:0000115 nl Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx HP:0009969 IAO:0000115 nl Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx HP:0009982 IAO:0000115 nl Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the middle phalanx of the 2nd finger HP:0009953 rdfs:label nl Partiële duplicatie van de middelste falanx van de 2e vinger CANDIDATE +en Partial duplication of the middle phalanx of the 2nd toe HP:0010427 rdfs:label nl Partiële duplicatie van de middelste falanx van de 2e teen CANDIDATE +en Partial duplication of the middle phalanx of the 3rd finger HP:0009969 rdfs:label nl Partiële duplicatie van de middelste falanx van de 3e vinger CANDIDATE +en Partial duplication of the middle phalanx of the 3rd toe HP:0100419 rdfs:label nl Partiële duplicatie van de middelste falanx van de 3e teen CANDIDATE +en Partial duplication of the middle phalanx of the 4th finger HP:0009982 rdfs:label nl Partiële duplicatie van de middelste falanx van de 4e vinger CANDIDATE +en Partial duplication of the middle phalanx of the 4th toe HP:0100420 rdfs:label nl Partiële duplicatie van de middelste falanx van de 4e teen CANDIDATE +en Partial duplication of the middle phalanx of the 5th finger HP:0009995 rdfs:label nl Partiële duplicatie van de middelste falanx van de 5e vinger CANDIDATE +en Partial duplication of the middle phalanx of the 5th toe HP:0100421 IAO:0000115 nl Partial duplication of the middle phalanx of the 5th toe NOT_TRANSLATED +en Partial duplication of the middle phalanx of the 5th toe HP:0100421 rdfs:label nl Partiële duplicatie van de middelste falanx van de 5e teen CANDIDATE +en Partial duplication of the phalanges of the 2nd finger HP:0009956 rdfs:label nl Partiële duplicatie van de falangen van de 2e vinger CANDIDATE +en Partial duplication of the phalanges of the 3rd finger HP:0009961 rdfs:label nl Partiële duplicatie van de falangen van de 3e vinger CANDIDATE +en Partial duplication of the phalanges of the 4th finger HP:0009974 rdfs:label nl Partiële duplicatie van de falangen van de 4e vinger CANDIDATE +en Partial duplication of the phalanges of the 5th finger HP:0009987 rdfs:label nl Partiële duplicatie van de falangen van de 5e vinger CANDIDATE +en Partial duplication of the phalanges of the hallux HP:0010101 rdfs:label nl Partiële duplicatie van de falangen van de hallux CANDIDATE +en Partial duplication of the phalanx of hand HP:0009999 rdfs:label nl Partiële duplicatie van falanx van hand CANDIDATE +en Partial duplication of the proximal phalanges of the hand HP:0010003 rdfs:label nl Partiële duplicatie van de proximale falangen van de hand CANDIDATE +en Partial duplication of the proximal phalanx of big toe HP:0010095 IAO:0000115 nl Partial duplication of the proximal phalanx of big toe NOT_TRANSLATED +en Partial duplication of the proximal phalanx of fifth toe HP:0100424 IAO:0000115 nl Partial duplication of the proximal phalanx of fifth toe NOT_TRANSLATED +en Partial duplication of the proximal phalanx of the 2nd finger HP:0009955 rdfs:label nl Partiële duplicatie van de proximale falanx van de 2e vinger CANDIDATE +en Partial duplication of the proximal phalanx of the 2nd toe HP:0010423 rdfs:label nl Partiële duplicatie van het proximalee falanx van de 2e teen CANDIDATE +en Partial duplication of the proximal phalanx of the 3rd finger HP:0009970 rdfs:label nl Partiële duplicatie van de proximale falanx van de 3e vinger CANDIDATE +en Partial duplication of the proximal phalanx of the 3rd toe HP:0100422 rdfs:label nl Partiële duplicatie van het proximalee falanx van de 3e teen CANDIDATE +en Partial duplication of the proximal phalanx of the 4th finger HP:0009983 rdfs:label nl Partiële duplicatie van de proximale falanx van de 4e vinger CANDIDATE +en Partial duplication of the proximal phalanx of the 4th toe HP:0100423 rdfs:label nl Partiële duplicatie van de proximale falanx van de 4e teen CANDIDATE +en Partial duplication of the proximal phalanx of the 5th finger HP:0009996 rdfs:label nl Partiële duplicatie van de proximale falanx van de 5e vinger CANDIDATE +en Partial duplication of the proximal phalanx of the 5th toe HP:0100424 rdfs:label nl Partiële duplicatie van de proximale falanx van de 5e teen CANDIDATE +en Partial duplication of the proximal phalanx of the hallux HP:0010095 rdfs:label nl Partiële duplicatie van de proximale falanx van de hallux CANDIDATE +en Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx HP:0009955 IAO:0000115 nl Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx HP:0009970 IAO:0000115 nl Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial duplication of thumb phalanx HP:0009944 rdfs:label nl Partiële duplicatie van falanx van duim CANDIDATE +en Partial functional complement factor D deficiency HP:0008338 rdfs:label nl Partiële functioneel complement factor D deficiëntie CANDIDATE +en Partial fusion of carpals HP:0006207 rdfs:label nl Partiële fusie van carpalen CANDIDATE +en Partial fusion of proximal row of carpal bones HP:0005694 rdfs:label nl Partiële fusie van proximale rij van de carpale botten CANDIDATE +en Partial fusion of tarsals HP:0008097 rdfs:label nl Partiële fusie van tarsalen CANDIDATE +en Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue HP:0009755 IAO:0000115 nl Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue NOT_TRANSLATED +en Partial hyposmia HP:0010635 rdfs:label nl Partiële hyposmie CANDIDATE +en Partial left sided absence of pericardium HP:0011634 rdfs:label nl Partiële linkszijdige afwezigheid van het pericardium CANDIDATE +en Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly HP:0030716 IAO:0000115 nl Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly NOT_TRANSLATED +en Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain HP:0030762 IAO:0000115 nl Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain NOT_TRANSLATED +en Partial or complete duplication of a middle phalanx of toe HP:0010202 IAO:0000115 nl Partial or complete duplication of a middle phalanx of toe NOT_TRANSLATED +en Partial or complete duplication of a phalanx of second toe HP:0010355 IAO:0000115 nl Partial or complete duplication of a phalanx of second toe NOT_TRANSLATED +en Partial or complete duplication of distal phalanx of third toe HP:0100398 IAO:0000115 nl Partial or complete duplication of distal phalanx of third toe NOT_TRANSLATED +en Partial or complete duplication of middle phalanx of fourth toe HP:0100402 IAO:0000115 nl Partial or complete duplication of middle phalanx of fourth toe NOT_TRANSLATED +en Partial or complete duplication of middle phalanx of second toe HP:0010412 IAO:0000115 nl Partial or complete duplication of middle phalanx of second toe NOT_TRANSLATED +en Partial or complete duplication of middle phalanx of third toe HP:0100401 IAO:0000115 nl Partial or complete duplication of middle phalanx of third toe NOT_TRANSLATED +en Partial or complete duplication of one or more phalanx of big toe HP:0010066 IAO:0000115 nl Partial or complete duplication of one or more phalanx of big toe NOT_TRANSLATED +en Partial or complete duplication of one or more phalanx of little toe HP:0010391 IAO:0000115 nl Partial or complete duplication of one or more phalanx of little toe NOT_TRANSLATED +en Partial or complete duplication of phalanx of fourth toe HP:0010379 IAO:0000115 nl Partial or complete duplication of phalanx of fourth toe NOT_TRANSLATED +en Partial or complete duplication of phalanx of third toe HP:0010367 IAO:0000115 nl Partial or complete duplication of phalanx of third toe NOT_TRANSLATED +en Partial or complete duplication of proximal phalanx of second toe HP:0010403 IAO:0000115 nl Partial or complete duplication of proximal phalanx of second toe NOT_TRANSLATED +en Partial or complete duplication of proximal phalanx of third toe HP:0100404 IAO:0000115 nl Partial or complete duplication of proximal phalanx of third toe NOT_TRANSLATED +en Partial or complete duplication of the distal phalanx of fourth toe HP:0100399 IAO:0000115 nl Partial or complete duplication of the distal phalanx of fourth toe NOT_TRANSLATED +en Partial or complete duplication of the distal phalanx of index finger HP:0009948 IAO:0000115 nl Partial or complete duplication of the distal phalanx of index finger NOT_TRANSLATED +en Partial or complete duplication of the distal phalanx of little finger HP:0009988 IAO:0000115 nl Partial or complete duplication of the distal phalanx of little finger NOT_TRANSLATED +en Partial or complete duplication of the distal phalanx of little toe HP:0100400 IAO:0000115 nl Partial or complete duplication of the distal phalanx of little toe NOT_TRANSLATED +en Partial or complete duplication of the distal phalanx of middle finger HP:0009962 IAO:0000115 nl Partial or complete duplication of the distal phalanx of middle finger NOT_TRANSLATED +en Partial or complete duplication of the distal phalanx of ring finger HP:0009975 IAO:0000115 nl Partial or complete duplication of the distal phalanx of ring finger NOT_TRANSLATED +en Partial or complete duplication of the distal phalanx of second toe HP:0010421 IAO:0000115 nl Partial or complete duplication of the distal phalanx of second toe NOT_TRANSLATED +en Partial or complete duplication of the fifth middle phalanx of hand HP:0009989 IAO:0000115 nl Partial or complete duplication of the fifth middle phalanx of hand NOT_TRANSLATED +en Partial or complete duplication of the fifth proximal phalanx of hand HP:0009990 IAO:0000115 nl Partial or complete duplication of the fifth proximal phalanx of hand NOT_TRANSLATED +en Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx HP:0009996 IAO:0000115 nl Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx NOT_TRANSLATED +en Partial or complete duplication of the fourth proximal phalanx of hand HP:0009977 IAO:0000115 nl Partial or complete duplication of the fourth proximal phalanx of hand NOT_TRANSLATED +en Partial or complete duplication of the middle phalanx of index finger HP:0009949 IAO:0000115 nl Partial or complete duplication of the middle phalanx of index finger NOT_TRANSLATED +en Partial or complete duplication of the middle phalanx of middle finger HP:0009963 IAO:0000115 nl Partial or complete duplication of the middle phalanx of middle finger NOT_TRANSLATED +en Partial or complete duplication of the middle phalanx of ring finger HP:0009976 IAO:0000115 nl Partial or complete duplication of the middle phalanx of ring finger NOT_TRANSLATED +en Partial or complete duplication of the middle phalanx of the 5th toe HP:0100403 IAO:0000115 nl Partial or complete duplication of the middle phalanx of the 5th toe NOT_TRANSLATED +en Partial or complete duplication of the proximal phalanx of big toe HP:0010093 IAO:0000115 nl Partial or complete duplication of the proximal phalanx of big toe NOT_TRANSLATED +en Partial or complete duplication of the proximal phalanx of fifth toe HP:0100406 IAO:0000115 nl Partial or complete duplication of the proximal phalanx of fifth toe NOT_TRANSLATED +en Partial or complete duplication of the proximal phalanx of fourth toe HP:0100405 IAO:0000115 nl Partial or complete duplication of the proximal phalanx of fourth toe NOT_TRANSLATED +en Partial or complete duplication of the second proximal phalanx of hand HP:0009947 IAO:0000115 nl Partial or complete duplication of the second proximal phalanx of hand NOT_TRANSLATED +en Partial or complete duplication of the third proximal phalanx of hand HP:0009964 IAO:0000115 nl Partial or complete duplication of the third proximal phalanx of hand NOT_TRANSLATED +en Partial or complete loss of foveal tissue that was once present HP:0025010 IAO:0000115 nl Partial or complete loss of foveal tissue that was once present NOT_TRANSLATED +en Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics HP:0011975 IAO:0000115 nl Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics NOT_TRANSLATED +en Partial or complete loss of vision in one half of the visual field of one or both eyes HP:0012377 IAO:0000115 nl Partial or complete loss of vision in one half of the visual field of one or both eyes NOT_TRANSLATED +en Partial or complete wasting (atrophy) of the skin HP:0004334 IAO:0000115 nl Partial or complete wasting (atrophy) of the skin NOT_TRANSLATED +en Partial or complete wasting (loss) of brain tissue that was once present HP:0012444 IAO:0000115 nl Partial or complete wasting (loss) of brain tissue that was once present NOT_TRANSLATED +en Partial or complete wasting (loss) of dentate nucleus HP:0007047 IAO:0000115 nl Partial or complete wasting (loss) of dentate nucleus NOT_TRANSLATED +en Partial or complete wasting (loss) of hippocampus tissue that was once present HP:0410170 IAO:0000115 nl Partial or complete wasting (loss) of hippocampus tissue that was once present NOT_TRANSLATED +en Partial or complete wasting (loss) of hypothalamus tissue that was once present HP:0025058 IAO:0000115 nl Partial or complete wasting (loss) of hypothalamus tissue that was once present NOT_TRANSLATED +en Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis HP:0025149 IAO:0000115 nl Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis NOT_TRANSLATED +en Partial or complete wasting (loss) of the pituitary gland HP:0410279 IAO:0000115 nl Partial or complete wasting (loss) of the pituitary gland NOT_TRANSLATED +en Partial or total incontinence of bowel or bladder HP:0031064 IAO:0000115 nl Partial or total incontinence of bowel or bladder NOT_TRANSLATED +en Partial right sided absence of pericardium HP:0011632 rdfs:label nl Partiële rechtszijdige afwezigheid van het pericardium CANDIDATE +en Partial vaginal septum HP:0008670 rdfs:label nl Gedeeltelijk vaginaal septum CANDIDATE +en Partial-complete absence of 5th phalanges HP:0006209 rdfs:label nl Partieel-complete afwezigheid van 5e falangen CANDIDATE +en Partial/complete duplication of a proximal phalanx of toe HP:0010211 IAO:0000115 nl Partial/complete duplication of a proximal phalanx of toe NOT_TRANSLATED +en Partial/complete duplication of one or more phalanx of toe HP:0010181 IAO:0000115 nl Partial/complete duplication of one or more phalanx of toe NOT_TRANSLATED +en Partially accomodative esotropia HP:0031765 rdfs:label nl Gedeeltelijk accommodatieve esotropie CANDIDATE +en Partially duplicated kidney HP:0008738 rdfs:label nl Partieel gedupliceerde nier CANDIDATE +en Particularly loud snoring, snoring at high volume HP:0025372 IAO:0000115 nl Particularly loud snoring, snoring at high volume NOT_TRANSLATED +en Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes HP:0033343 IAO:0000115 nl Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes NOT_TRANSLATED +en Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating HP:0033589 IAO:0000115 nl Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating NOT_TRANSLATED +en Passage of many stools containing blood HP:0025085 IAO:0000115 nl Passage of many stools containing blood NOT_TRANSLATED +en Passage of many stools containing blood and mucus HP:0025086 IAO:0000115 nl Passage of many stools containing blood and mucus NOT_TRANSLATED +en Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty HP:0000823 IAO:0000115 nl Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty NOT_TRANSLATED +en Passive dorsiflexion of the 5th finger more than 90 degrees HP:0031534 rdfs:label nl Passieve dorsaalflexie van de 5e vinger van meer dan 90 graden CANDIDATE +en Past medical history HP:0032443 rdfs:label nl Past medical history NOT_TRANSLATED +en Past obstetric history HP:0032467 rdfs:label nl Past obstetric history NOT_TRANSLATED +en Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays HP:0010659 IAO:0000115 nl Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays NOT_TRANSLATED +en Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density) HP:0010658 IAO:0000115 nl Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density) NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010190 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010199 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010388 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010376 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010352 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010364 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010208 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010063 IAO:0000115 nl Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0100469 IAO:0000115 nl Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0005686 IAO:0000115 nl Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0010657 IAO:0000115 nl Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Patchy alopecia HP:0002232 rdfs:label nl Onregelmatige alopecia CANDIDATE +en Patchy and irregular skin pigmentation HP:0001070 IAO:0000115 nl Patchy and irregular skin pigmentation NOT_TRANSLATED +en Patchy atrophy of the retinal pigment epithelium HP:0007791 rdfs:label nl Fragmentarische atrofie van het retina pigment epitheel CANDIDATE +en Patchy changes of bone mineral density HP:0010658 rdfs:label nl Fragmentarische veranderingen van de botmineraaldichtheid CANDIDATE +en Patchy demyelination of subcortical white matter HP:0002545 rdfs:label nl Fragmentarische demyelinisatie van subcorticale witte stof CANDIDATE +en Patchy distortion of vertebrae HP:0004609 rdfs:label nl Fragmentarische vervorming van wervels CANDIDATE +en Patchy hypo- and hyperpigmentation HP:0007509 rdfs:label nl Fragmentarische hypo- en hyperpigmentatie CANDIDATE +en Patchy hypopigmentation of hair HP:0011365 rdfs:label nl Fragmentarische hypopigmentatie van haar CANDIDATE +en Patchy increase in bone density of the distal phalanx of the 5th finger HP:0009243 IAO:0000115 nl Patchy increase in bone density of the distal phalanx of the 5th finger NOT_TRANSLATED +en Patchy increase in bone density of the middle phalanx of the 5th finger HP:0009175 IAO:0000115 nl Patchy increase in bone density of the middle phalanx of the 5th finger NOT_TRANSLATED +en Patchy increase in bone density of the proximal phalanx of the 5th finger HP:0009231 IAO:0000115 nl Patchy increase in bone density of the proximal phalanx of the 5th finger NOT_TRANSLATED +en Patchy loss of myelin from nerve fibers in the central nervous system HP:0002545 IAO:0000115 nl Patchy loss of myelin from nerve fibers in the central nervous system NOT_TRANSLATED +en Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct HP:0025418 IAO:0000115 nl Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct NOT_TRANSLATED +en Patchy osteosclerosis HP:0005686 rdfs:label nl Fragmentarische osteosclerose CANDIDATE +en Patchy palmoplantar hyperkeratosis HP:0005588 rdfs:label nl Onregelmatige palmoplantaire keratodermie CANDIDATE +en Patchy reduction of bone mineral density HP:0010657 rdfs:label nl Fragmentarische vermindering van de botmineraaldichtheid CANDIDATE +en Patchy sclerosis of 2nd finger phalanx HP:0009551 rdfs:label nl Fragmentarische sclerose van falanx van de 2e vinger CANDIDATE +en Patchy sclerosis of 2nd toe phalanx HP:0010352 rdfs:label nl Fragmentarische sclerose van falanx van de 2e teen CANDIDATE +en Patchy sclerosis of 3rd finger phalanx HP:0009444 rdfs:label nl Fragmentarische sclerose van falanx van de 3e vinger CANDIDATE +en Patchy sclerosis of 3rd toe phalanx HP:0010364 rdfs:label nl Fragmentarische sclerose van falanx van de 3e teen CANDIDATE +en Patchy sclerosis of 4th finger phalanx HP:0009406 rdfs:label nl Fragmentarische sclerose van falanx van de 4e vinger CANDIDATE +en Patchy sclerosis of 4th toe phalanx HP:0010376 rdfs:label nl Fragmentarische sclerose van falanx van de 4e teen CANDIDATE +en Patchy sclerosis of 5th finger phalanx HP:0009377 rdfs:label nl Fragmentarische sclerose van falanx van de 5e vinger CANDIDATE +en Patchy sclerosis of 5th toe phalanx HP:0010388 rdfs:label nl Fragmentarische sclerose van falanx van de 5e teen CANDIDATE +en Patchy sclerosis of distal phalanx of finger HP:0009840 rdfs:label nl Fragmentarische sclerose van distale falanx van vinger CANDIDATE +en Patchy sclerosis of distal toe phalanx HP:0010190 rdfs:label nl Fragmentarische sclerose van distale falanx van teen CANDIDATE +en Patchy sclerosis of finger phalanx HP:0009772 rdfs:label nl Fragmentarische sclerose van falanx van vinger CANDIDATE +en Patchy sclerosis of hallux phalanx HP:0010063 rdfs:label nl Fragmentarische sclerose van falanx van hallux CANDIDATE +en Patchy sclerosis of hand bones HP:0004286 rdfs:label nl Fragmentarische sclerose van hand botten CANDIDATE +en Patchy sclerosis of middle phalanx of finger HP:0009848 rdfs:label nl Fragmentarische sclerose van middelste falanx van vinger CANDIDATE +en Patchy sclerosis of middle toe phalanx HP:0010199 rdfs:label nl Fragmentarische sclerose van middelste falanx van teen CANDIDATE +en Patchy sclerosis of proximal phalanx of finger HP:0009856 rdfs:label nl Fragmentarische sclerose van proximale falanx van vinger CANDIDATE +en Patchy sclerosis of proximal toe phalanx HP:0010208 rdfs:label nl Fragmentarische sclerose van proximale falanx van teen CANDIDATE +en Patchy sclerosis of radial diaphysis HP:0004030 rdfs:label nl Fragmentarische sclerose van diafyse van de radius CANDIDATE +en Patchy sclerosis of the 1st metacarpal HP:0010031 rdfs:label nl Fragementarische sclerose van de 1e metacarpaal CANDIDATE +en Patchy sclerosis of the 1st metatarsal HP:0010072 rdfs:label nl Fragementarische sclerose van de 1e metatarsaal CANDIDATE +en Patchy sclerosis of the distal phalanx of the 2nd finger HP:0009562 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 2e vinger CANDIDATE +en Patchy sclerosis of the distal phalanx of the 2nd toe HP:0010418 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 2e teen CANDIDATE +en Patchy sclerosis of the distal phalanx of the 3rd finger HP:0009425 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 3e vinger CANDIDATE +en Patchy sclerosis of the distal phalanx of the 3rd toe HP:0100467 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 3e teen CANDIDATE +en Patchy sclerosis of the distal phalanx of the 4th finger HP:0009304 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 4e vinger CANDIDATE +en Patchy sclerosis of the distal phalanx of the 4th toe HP:0100468 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 4e teen CANDIDATE +en Patchy sclerosis of the distal phalanx of the 5th finger HP:0009243 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 5e vinger CANDIDATE +en Patchy sclerosis of the distal phalanx of the 5th toe HP:0100469 rdfs:label nl Fragmentarische sclerose van de distale falanx van de 5e teen CANDIDATE +en Patchy sclerosis of the distal phalanx of the hallux HP:0010081 rdfs:label nl Fragmentarische sclerose van de distale falanx van de hallux CANDIDATE +en Patchy sclerosis of the distal phalanx of the thumb HP:0009646 rdfs:label nl Fragmentarische sclerose van de distale falanx van de duim CANDIDATE +en Patchy sclerosis of the middle phalanx of the 2nd finger HP:0009573 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 2e vinger CANDIDATE +en Patchy sclerosis of the middle phalanx of the 2nd toe HP:0010409 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 2e teen CANDIDATE +en Patchy sclerosis of the middle phalanx of the 3rd finger HP:0009434 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 3e vinger CANDIDATE +en Patchy sclerosis of the middle phalanx of the 3rd toe HP:0100461 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 3e teen CANDIDATE +en Patchy sclerosis of the middle phalanx of the 4th finger HP:0009307 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 4e vinger CANDIDATE +en Patchy sclerosis of the middle phalanx of the 4th toe HP:0100462 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 4e teen CANDIDATE +en Patchy sclerosis of the middle phalanx of the 5th finger HP:0009175 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 5e vinger CANDIDATE +en Patchy sclerosis of the middle phalanx of the 5th toe HP:0100463 rdfs:label nl Fragmentarische sclerose van de middelste falanx van de 5e teen CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 2nd finger HP:0009585 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 2e vinger CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 2nd toe HP:0010400 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 2e teen CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 3rd finger HP:0009454 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 3e vinger CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 3rd toe HP:0100464 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 3e teen CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 4th finger HP:0009313 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 4e vinger CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 4th toe HP:0100465 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 4e teen CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 5th finger HP:0009231 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 5e vinger CANDIDATE +en Patchy sclerosis of the proximal phalanx of the 5th toe HP:0100466 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de 5e teen CANDIDATE +en Patchy sclerosis of the proximal phalanx of the hallux HP:0010090 rdfs:label nl Fragmentarische sclerose van de proximale falanx van de hallux CANDIDATE +en Patchy sclerosis of the proximal phalanx of the thumb HP:0009634 rdfs:label nl Fragmentele sclerose van de proximale falanx van de duim CANDIDATE +en Patchy sclerosis of thumb phalanx HP:0009655 rdfs:label nl Fragmentarische sclerose van falanx van de duim CANDIDATE +en Patchy sclerosis of toe phalanx HP:0010178 rdfs:label nl Fragmentarische sclerose van falanx van teen CANDIDATE +en Patchy variation in bone mineral density HP:0010659 rdfs:label nl Fragmentarische variatie van de botmineraaldichtheid CANDIDATE +en Patella alta HP:0034186 rdfs:label nl Patella alta NOT_TRANSLATED +en Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea HP:0034186 IAO:0000115 nl Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea NOT_TRANSLATED +en Patellar aplasia HP:0006443 rdfs:label nl Patellaire aplasie CANDIDATE +en Patellar dislocation HP:0002999 rdfs:label nl Patellaire dislocatie CANDIDATE +en Patellar dislocation occurring repeated times HP:0005001 IAO:0000115 nl Patellar dislocation occurring repeated times NOT_TRANSLATED +en Patellar hypoplasia HP:0003065 rdfs:label nl Patellaire hypoplasie CANDIDATE +en Patellar overgrowth HP:0033308 rdfs:label nl Patellar overgrowth NOT_TRANSLATED +en Patellar subluxation HP:0010499 rdfs:label nl Patellaire subluxatie CANDIDATE +en Patent ductus arteriosus HP:0001643 rdfs:label nl Patent ductus arteriosus CANDIDATE +en Patent ductus arteriosus after birth at term HP:0011648 rdfs:label nl Patente ductus arteriosus na à terme geboorte CANDIDATE +en Patent ductus arteriosus after premature birth HP:0011649 rdfs:label nl Patente ductus arteriosus na premature geboorte CANDIDATE +en Patent foramen ovale HP:0001655 rdfs:label nl Patent foramen ovale CANDIDATE +en Patent urachus HP:0010479 rdfs:label nl Open urachus CANDIDATE +en Pathologic fracture HP:0002756 rdfs:label nl Pathologische fractuur CANDIDATE +en Pathological deposition of calcium salts in one or more arteries HP:0003207 IAO:0000115 nl Pathological deposition of calcium salts in one or more arteries NOT_TRANSLATED +en Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract HP:0033538 IAO:0000115 nl Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract NOT_TRANSLATED +en Pathological deposition of calcium salts in the globus pallidus HP:0031627 IAO:0000115 nl Pathological deposition of calcium salts in the globus pallidus NOT_TRANSLATED +en Pathological persistent sexual disinhibiting behavior, directed at oneself or to others HP:0030214 IAO:0000115 nl Pathological persistent sexual disinhibiting behavior, directed at oneself or to others NOT_TRANSLATED +en Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form HP:0002185 IAO:0000115 nl Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form NOT_TRANSLATED +en Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening HP:0033711 IAO:0000115 nl Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening NOT_TRANSLATED +en Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria HP:0100586 IAO:0000115 nl Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria NOT_TRANSLATED +en Pattern dystrophy of the retina HP:0007963 rdfs:label nl Patroon dystrofie van de retina CANDIDATE +en Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system HP:0001693 IAO:0000115 nl Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system NOT_TRANSLATED +en Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa HP:0012383 IAO:0000115 nl Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa NOT_TRANSLATED +en Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right HP:0012382 IAO:0000115 nl Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right NOT_TRANSLATED +en Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left HP:0001694 IAO:0000115 nl Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left NOT_TRANSLATED +en Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand HP:0004053 IAO:0000115 nl Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand NOT_TRANSLATED +en Patulous urethra HP:0025417 rdfs:label nl Patulous urethra NOT_TRANSLATED +en Paucity of anterior horn motor neurons HP:0007277 rdfs:label nl Gebrek aan motorische neuronen van de voorhoorn CANDIDATE +en Pear-shaped nose HP:0000447 rdfs:label nl Peervormige neus CANDIDATE +en Pear-shaped vertebrae HP:0004566 rdfs:label nl Peervormige wervels CANDIDATE +en Peau d'orange HP:0025533 rdfs:label nl Peau d'orange CANDIDATE +en Pectoral muscle hypoplasia/aplasia HP:0005258 rdfs:label nl Musculus pectoralis hypoplasie/aplasie CANDIDATE +en Pectoralis amyotrophy HP:0012037 rdfs:label nl Pectoralis amyotrofie CANDIDATE +en Pectoralis hypoplasia HP:0008998 rdfs:label nl Pectoralis hypoplasie CANDIDATE +en Pectoralis major hypoplasia HP:0008953 rdfs:label nl Pectoralis major hypoplasie CANDIDATE +en Pectus carinatum HP:0000768 rdfs:label nl Pectus carinatum CANDIDATE +en Pectus carinatum affecting primarily the superior part of the sternum HP:0000917 IAO:0000115 nl Pectus carinatum affecting primarily the superior part of the sternum NOT_TRANSLATED +en Pectus excavatum HP:0000767 rdfs:label nl Pectus excavatum CANDIDATE +en Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum HP:0000915 IAO:0000115 nl Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum NOT_TRANSLATED +en Pectus excavatum of inferior sternum HP:0000915 rdfs:label nl Pectus excavatum van inferieur borstbeen CANDIDATE +en Pedal edema HP:0010741 rdfs:label nl Oedeem van onderste ledematen CANDIDATE +en Pediatric onset HP:0410280 rdfs:label nl Pediatric onset NOT_TRANSLATED +en Peg-like central prominence of distal tibial metaphyses HP:0006423 rdfs:label nl Peg-like central prominence of distal tibial metaphyses NOT_TRANSLATED +en Peg-shaped maxillary lateral incisors HP:0006342 rdfs:label nl Pin-vormige maxillaire laterale snijtanden CANDIDATE +en Pelvic arteriovenous malformation HP:0031344 rdfs:label nl Pelvische arterioveneuze malformatie CANDIDATE +en Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology HP:0010453 IAO:0000115 nl Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology NOT_TRANSLATED +en Pelvic bone asymmetry HP:0010453 rdfs:label nl Bekkenbeen asymmetrie CANDIDATE +en Pelvic bone exostoses HP:0003276 rdfs:label nl Bekkenbeen exostosen CANDIDATE +en Pelvic girdle amyotrophy HP:0008946 rdfs:label nl Bekkengordel amyotrofie CANDIDATE +en Pelvic girdle muscle atrophy HP:0008988 rdfs:label nl Bekkengordel spieratrofie CANDIDATE +en Pelvic girdle muscle weakness HP:0003749 rdfs:label nl Bekkengordel spierzwakte CANDIDATE +en Pelvic kidney HP:0000125 rdfs:label nl Nierbekken CANDIDATE +en Pelvic lipomatosis HP:0034009 rdfs:label nl Pelvic lipomatosis NOT_TRANSLATED +en Pelvic mass HP:0031501 rdfs:label nl Bekken massa CANDIDATE +en Pelvic organ prolapse HP:0031607 rdfs:label nl Bekkenorgaan prolaps CANDIDATE +en Pelvic pain HP:0034267 rdfs:label nl Pelvic pain NOT_TRANSLATED +en Pendular nystagmus HP:0012043 rdfs:label nl Pendulaire nystagmus CANDIDATE +en Pendulous urethral stricture HP:0025414 rdfs:label nl Hangende urethrale strictuur CANDIDATE +en Penetrating aortic ulcer HP:0031648 rdfs:label nl Penetrerend aorta ulcus CANDIDATE +en Penetrating foot ulcers HP:0001026 rdfs:label nl Penetrerende voetzweren CANDIDATE +en Penile freckling HP:0031447 rdfs:label nl Sproeten op penis CANDIDATE +en Penile hypospadias HP:0003244 rdfs:label nl Penis hypospadiën CANDIDATE +en Penile length more than 2 SD above the mean for age HP:0000040 IAO:0000115 nl Penile length more than 2 SD above the mean for age NOT_TRANSLATED +en Penile thrush HP:0033768 rdfs:label nl Penile thrush NOT_TRANSLATED +en Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age HP:0030262 IAO:0000115 nl Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age NOT_TRANSLATED +en Penoscrotal hypospadias HP:0000808 rdfs:label nl Penoscrotale hypospadie CANDIDATE +en Penoscrotal transposition HP:0100600 rdfs:label nl Penoscrotale transpositie CANDIDATE +en Peptic ulcer HP:0004398 rdfs:label nl Ulcus pepticum CANDIDATE +en Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest HP:0002875 IAO:0000115 nl Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest NOT_TRANSLATED +en Perceived flashes of light HP:0030786 IAO:0000115 nl Perceived flashes of light NOT_TRANSLATED +en Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor HP:0033693 IAO:0000115 nl Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor NOT_TRANSLATED +en Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space HP:0000738 IAO:0000115 nl Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space NOT_TRANSLATED +en Percussion myotonia HP:0010548 rdfs:label nl Percussie myotonie CANDIDATE +en Percussion-induced rapid rolling muscle contractions HP:0003760 rdfs:label nl Percussion-induced rapid rolling muscle contractions NOT_TRANSLATED +en Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds HP:0003719 IAO:0000115 nl Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds NOT_TRANSLATED +en Perianal abscess HP:0009789 rdfs:label nl Perianaal abces CANDIDATE +en Perianal dermatitis HP:0011131 rdfs:label nl Perianale uitslag CANDIDATE +en Perianal erythema HP:0033195 rdfs:label nl Perianal erythema NOT_TRANSLATED +en Periapical bone loss HP:0000700 rdfs:label nl Periapicale radiolucentie CANDIDATE +en Periapical tooth abscess HP:0030758 rdfs:label nl Periapicaal tand abces CANDIDATE +en Periarticular calcification HP:0025477 rdfs:label nl Periarticulaire calcificatie CANDIDATE +en Periarticular soft-tissue mass HP:0020127 rdfs:label nl Periarticular soft-tissue mass NOT_TRANSLATED +en Periarticular subcutaneous nodules HP:0007470 rdfs:label nl Periarticulaire subcutane noduli CANDIDATE +en Periauricular skin pits HP:0100277 rdfs:label nl Preauriculaire huid pits CANDIDATE +en Peribronchovascular interstitial thickening HP:0025177 rdfs:label nl Peribronchovasculaire interstitiële verdikking CANDIDATE +en Pericallosal lipoma HP:0006931 rdfs:label nl Lipoom van corpus callosum CANDIDATE +en Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain HP:0006931 IAO:0000115 nl Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain NOT_TRANSLATED +en Pericardial constriction HP:0005132 rdfs:label nl Pericardiale constrictie CANDIDATE +en Pericardial effusion HP:0001698 rdfs:label nl Pericardeffusie CANDIDATE +en Pericardial late gadolinium enhancement HP:4000005 rdfs:label nl Pericardial late gadolinium enhancement NOT_TRANSLATED +en Pericardial lymphangiectasia HP:0005183 rdfs:label nl Pericardiale lymfangiëctasieën CANDIDATE +en Pericardial mesothelioma HP:0100004 rdfs:label nl Pericardiaal Mesothelioom CANDIDATE +en Pericarditis HP:0001701 rdfs:label nl Pericarditis CANDIDATE +en Pericentral HP:0030649 rdfs:label nl Pericentraal CANDIDATE +en Pericentral retinitis pigmentosa HP:0007947 rdfs:label nl Pericentrale retinitis pigmentosa CANDIDATE +en Pericentral scotoma HP:0007761 rdfs:label nl Pericentraal scotoom CANDIDATE +en Perifascicular muscle fiber atrophy HP:0100296 rdfs:label nl Perifasciculaire spiervezel atrofie CANDIDATE +en Perifissural pulmonary nodule HP:0033613 rdfs:label nl Perifissural pulmonary nodule NOT_TRANSLATED +en Perifollicular erythema HP:0031286 rdfs:label nl Perifolliculair erytheem CANDIDATE +en Perifollicular fibroma HP:0032225 rdfs:label nl Perifollicular fibroma NOT_TRANSLATED +en Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle HP:0032225 IAO:0000115 nl Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle NOT_TRANSLATED +en Perifollicular fibrosis HP:0030054 rdfs:label nl Perifolliculaire fibrose CANDIDATE +en Perifollicular hyperkeratosis HP:0007468 rdfs:label nl Perifolliculaire hyperkeratose CANDIDATE +en Perifolliculitis HP:0012322 rdfs:label nl Perifolliculitis CANDIDATE +en Perifoveal hypoautofluorescence HP:0034272 rdfs:label nl Perifoveal hypoautofluorescence NOT_TRANSLATED +en Perifoveal ring of hyperautofluorescence HP:0030629 rdfs:label nl Perifoveale ring van hyperautofluorescentie CANDIDATE +en Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence HP:0030634 rdfs:label nl Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence NOT_TRANSLATED +en Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence HP:0030633 rdfs:label nl Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence NOT_TRANSLATED +en Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions HP:0031150 IAO:0000115 nl Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions NOT_TRANSLATED +en Periglomerular fibrosis HP:0032417 rdfs:label nl Periglomerular fibrosis NOT_TRANSLATED +en Perihepatic adhesions HP:0034477 rdfs:label nl Perihepatic adhesions NOT_TRANSLATED +en Perihilar glomerular hyalinosis HP:0033217 rdfs:label nl Perihilar glomerular hyalinosis NOT_TRANSLATED +en Perihilar segmental glomerulosclerosis HP:0033496 rdfs:label nl Perihilar segmental glomerulosclerosis NOT_TRANSLATED +en Perilobar nephroblastomatosis HP:0011796 rdfs:label nl Perilobaire nefroblastomatose CANDIDATE +en Perilobar nephrogenic rest HP:0012782 rdfs:label nl Perilobaire nefrogene rest CANDIDATE +en Perilobular HP:0033813 rdfs:label nl Perilobular NOT_TRANSLATED +en Perilymphatic HP:0033819 rdfs:label nl Perilymphatic NOT_TRANSLATED +en Perimembranous ventricular septal defect HP:0011682 rdfs:label nl Perimembraneus ventrikelseptumdefect CANDIDATE +en Perineal fistula HP:0004871 rdfs:label nl Peri-anale fistel CANDIDATE +en Perineal hemangioma HP:0031449 rdfs:label nl Perineaal hemangioom CANDIDATE +en Perineal hypospadias HP:0000051 rdfs:label nl Perineale hypospadie CANDIDATE +en Perinephric abscess HP:0032619 rdfs:label nl Perinephric abscess NOT_TRANSLATED +en Perinephric fluid collection HP:0031226 rdfs:label nl Perinefrische vloeistof collectie CANDIDATE +en Perinephritis HP:0012784 rdfs:label nl Perinefritis CANDIDATE +en Perinuclear antineutrophil antibody positivity HP:0032229 rdfs:label nl Perinuclear antineutrophil antibody positivity NOT_TRANSLATED +en Perinuclear cardiomyocyte vacuolization HP:0033997 rdfs:label nl Perinuclear cardiomyocyte vacuolization NOT_TRANSLATED +en Periocular capillary hemangioma HP:0500090 rdfs:label nl Periocular capillary hemangioma NOT_TRANSLATED +en Periodic HP:0025304 rdfs:label nl Periodiek CANDIDATE +en Periodic (episodic or recurrent) bouts of fever HP:0001954 IAO:0000115 nl Periodic (episodic or recurrent) bouts of fever NOT_TRANSLATED +en Periodic fever HP:0032323 rdfs:label nl Periodic fever NOT_TRANSLATED +en Periodic hyperkalemic paralysis HP:0007215 rdfs:label nl Periodieke hyperkalemische paralyse CANDIDATE +en Periodic hypokalemic paresis HP:0008153 rdfs:label nl Periodieke hypokalemische paralyse CANDIDATE +en Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds) HP:0010853 IAO:0000115 nl Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds) NOT_TRANSLATED +en Periodic paralysis HP:0003768 rdfs:label nl Periodieke paralyse CANDIDATE +en Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days HP:0002131 IAO:0000115 nl Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days NOT_TRANSLATED +en Periodically occurring generalized periodic complexes HP:0010856 IAO:0000115 nl Periodically occurring generalized periodic complexes NOT_TRANSLATED +en Periodically recurring abnormalities in the EEG HP:0010857 IAO:0000115 nl Periodically recurring abnormalities in the EEG NOT_TRANSLATED +en Periodontitis HP:0000704 rdfs:label nl Parodontitis CANDIDATE +en Perioral eczema HP:0011127 rdfs:label nl Perioraal eczeem CANDIDATE +en Perioral erythema HP:0033194 rdfs:label nl Perioral erythema NOT_TRANSLATED +en Perioral hyperkeratosis HP:0033707 rdfs:label nl Perioral hyperkeratosis NOT_TRANSLATED +en Perioral hyperpigmentation HP:0010802 rdfs:label nl Periorale hyperpigmentatie CANDIDATE +en Perioral radial furrowing HP:0032099 rdfs:label nl Perioral radial furrowing NOT_TRANSLATED +en Perioral spasm HP:0031989 rdfs:label nl Perioral spasm NOT_TRANSLATED +en Periorbital dermoid cyst HP:0030668 rdfs:label nl Periorbitale dermoïd cyste CANDIDATE +en Periorbital ecchymosis with tarsal plate sparing HP:0025553 rdfs:label nl Periorbital ecchymosis with tarsal plate sparing NOT_TRANSLATED +en Periorbital edema HP:0100539 rdfs:label nl Periorbitaal oedeem CANDIDATE +en Periorbital fullness HP:0000629 rdfs:label nl Periorbitale volheid CANDIDATE +en Periorbital hyperpigmentation HP:0001106 rdfs:label nl Periorbitale hyperpigmentatie CANDIDATE +en Periorbital purpura HP:0025552 rdfs:label nl Periorbitale purpura CANDIDATE +en Periorbital wrinkles HP:0000607 rdfs:label nl Periorbitale rimpels CANDIDATE +en Periosteal new bone of humeral diaphysis HP:0003931 rdfs:label nl Periosteaal nieuw bot van diafyse van humerus CANDIDATE +en Periosteal new bone of humerus HP:0003878 rdfs:label nl Periosteaal nieuw bot van humerus CANDIDATE +en Periosteal thickening of long tubular bones HP:0006465 rdfs:label nl Periosteale verdikking van lange buisvormige botten CANDIDATE +en Periostitis HP:0040165 rdfs:label nl Periostitis CANDIDATE +en Periostosis HP:0030314 rdfs:label nl Periostose CANDIDATE +en Peripapillary atrophy HP:0500087 rdfs:label nl Peripapillary atrophy NOT_TRANSLATED +en Peripapillary chorioretinal atrophy HP:0007950 rdfs:label nl Peripapillaire chorioretinale atrofie CANDIDATE +en Peripapillary exudate HP:0025093 rdfs:label nl Peripapillair exsudaat CANDIDATE +en Peripheral HP:0030646 rdfs:label nl Perifeer CANDIDATE +en Peripheral Schwannoma HP:0009593 rdfs:label nl Perifeer schwannoom CANDIDATE +en Peripheral amyelination HP:0030172 rdfs:label nl Perifere amyelinisatie CANDIDATE +en Peripheral arterial calcification HP:0031301 rdfs:label nl Perifere arteriële calcificatie CANDIDATE +en Peripheral arterial stenosis HP:0004950 rdfs:label nl Perifere arteriële stenose CANDIDATE +en Peripheral arterial stenosis with onset before the age of 50 years HP:0005297 IAO:0000115 nl Peripheral arterial stenosis with onset before the age of 50 years NOT_TRANSLATED +en Peripheral arteriovenous fistula HP:0100784 rdfs:label nl Perifere arterioveneuze fistel CANDIDATE +en Peripheral axonal atrophy HP:0003384 rdfs:label nl Perifere axonale atrofie CANDIDATE +en Peripheral axonal degeneration HP:0000764 rdfs:label nl Perifere axonale degeneratie CANDIDATE +en Peripheral axonal neuropathy HP:0003477 rdfs:label nl Perifere axonale neuropathie CANDIDATE +en Peripheral cyanosis HP:0034033 rdfs:label nl Peripheral cyanosis NOT_TRANSLATED +en Peripheral cystoid retinal degeneration HP:0007667 rdfs:label nl Perifere cystoïde retina degeneratie CANDIDATE +en Peripheral demyelination HP:0011096 rdfs:label nl Perifere demyelinisatie CANDIDATE +en Peripheral dysmyelination HP:0003469 rdfs:label nl Perifere dysmyelinisatie CANDIDATE +en Peripheral edema HP:0012398 rdfs:label nl Perifeer oedeem CANDIDATE +en Peripheral fixation HP:0031769 rdfs:label nl Perifere fixatie CANDIDATE +en Peripheral hypermyelination HP:0030173 rdfs:label nl Perifere hypermyelinisatie CANDIDATE +en Peripheral hypomyelination HP:0007182 rdfs:label nl Perifere hypomyelinisatie CANDIDATE +en Peripheral lung neovascularity HP:0033571 rdfs:label nl Peripheral lung neovascularity NOT_TRANSLATED +en Peripheral nerve compression HP:0003406 rdfs:label nl Perifere zenuw compressie CANDIDATE +en Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness HP:0034351 IAO:0000115 nl Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness NOT_TRANSLATED +en Peripheral neuroepithelioma HP:0006717 rdfs:label nl Perifeer neuroepithelioom CANDIDATE +en Peripheral neuropathy HP:0009830 rdfs:label nl Perifere neuropathie CANDIDATE +en Peripheral neuropathy affecting the sensory nerves HP:0000763 IAO:0000115 nl Peripheral neuropathy affecting the sensory nerves NOT_TRANSLATED +en Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course HP:0009830 IAO:0000115 nl Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course NOT_TRANSLATED +en Peripheral opacification of the cornea HP:0008011 rdfs:label nl Perifere opacificatie van de cornea CANDIDATE +en Peripheral primitive neuroectodermal neoplasm HP:0030067 rdfs:label nl Perifeer primitief neuroectodermaal neoplasma CANDIDATE +en Peripheral pulmonary artery stenosis HP:0004969 rdfs:label nl Perifere arteria pulmonalis stenose CANDIDATE +en Peripheral pulmonary vessel aplasia HP:0005316 rdfs:label nl Perifere pulmonale vaat aplasie CANDIDATE +en Peripheral retinal atrophy HP:0200070 rdfs:label nl Perifere retinale atrofie CANDIDATE +en Peripheral retinal avascularization HP:0007685 rdfs:label nl Perifere retina avascularisatie CANDIDATE +en Peripheral retinal degeneration HP:0007769 rdfs:label nl Perifere retina degeneratie CANDIDATE +en Peripheral retinal detachment HP:0007929 rdfs:label nl Perifere netvliesloslating CANDIDATE +en Peripheral retinal neovascularization HP:0030667 rdfs:label nl Perifere retinale neovascularisatie CANDIDATE +en Peripheral sensory neuropathy affecting primarily distal sensation HP:0007067 IAO:0000115 nl Peripheral sensory neuropathy affecting primarily distal sensation NOT_TRANSLATED +en Peripheral thrombosis HP:0002641 rdfs:label nl Perifere trombose CANDIDATE +en Peripheral tractional retinal detachment HP:0007643 rdfs:label nl Perifere tractionele netvliesloslating CANDIDATE +en Peripheral visual field constriction with 10-19 degrees central field preserved HP:0030526 IAO:0000115 nl Peripheral visual field constriction with 10-19 degrees central field preserved NOT_TRANSLATED +en Peripheral visual field constriction with 20-49 degrees binocular visual field preserved HP:0030525 IAO:0000115 nl Peripheral visual field constriction with 20-49 degrees binocular visual field preserved NOT_TRANSLATED +en Peripheral visual field constriction with <10 degrees central field preserved HP:0030527 IAO:0000115 nl Peripheral visual field constriction with <10 degrees central field preserved NOT_TRANSLATED +en Peripheral visual field loss HP:0007994 rdfs:label nl Perifeer gezichtsveld verlies CANDIDATE +en Peripheral vitreoretinal degeneration HP:0200071 rdfs:label nl Perifere vitreoretinale degeneratie CANDIDATE +en Peripheral vitreous opacities HP:0007710 rdfs:label nl Perifere glasvocht opaciteiten CANDIDATE +en Periportal emperipolesis HP:0032221 rdfs:label nl Periportal emperipolesis NOT_TRANSLATED +en Periportal fibrosis HP:0001405 rdfs:label nl Periportale fibrose CANDIDATE +en Perirenal hematoma HP:0030171 rdfs:label nl Perirenaal hematoom CANDIDATE +en Perisylvian FDG hypermetabolism HP:0025699 rdfs:label nl Perisylvian FDG hypermetabolism NOT_TRANSLATED +en Perisylvian polymicrogyria HP:0012650 rdfs:label nl Perisylvius polymicrogyrie CANDIDATE +en Perisylvian predominant thick cortex pachygyria HP:0020190 rdfs:label nl Perisylvian predominant thick cortex pachygyria NOT_TRANSLATED +en Peritoneal abscess HP:0100592 rdfs:label nl Peritoneaal abces CANDIDATE +en Peritoneal effusion HP:0030995 rdfs:label nl Peritoneale effusie CANDIDATE +en Peritoneal mesothelioma HP:0100003 rdfs:label nl Peritoneaal mesothelioom CANDIDATE +en Peritonitis HP:0002586 rdfs:label nl Peritonitis CANDIDATE +en Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications HP:0030717 IAO:0000115 nl Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications NOT_TRANSLATED +en Periungual erythema HP:0033425 rdfs:label nl Periungual erythema NOT_TRANSLATED +en Periungual teleangiectasia HP:0025555 rdfs:label nl Periunguale teleangiëctasieën CANDIDATE +en Perivascular cardiac fibrosis HP:0031328 rdfs:label nl Perivasculaire cardiale fibrose CANDIDATE +en Perivascular fibrosis HP:0032200 rdfs:label nl Perivascular fibrosis NOT_TRANSLATED +en Perivascular myocardial immune cell infiltration HP:0031330 rdfs:label nl Perivasculaire myocardiale immuuncel infiltratie CANDIDATE +en Perivascular pre-capillary pulmonary artery inflammation HP:0033392 rdfs:label nl Perivascular pre-capillary pulmonary artery inflammation NOT_TRANSLATED +en Perivascular pseudorosette HP:0031929 rdfs:label nl Perivascular pseudorosette NOT_TRANSLATED +en Periventricular cysts HP:0007109 rdfs:label nl Periventriculaire cysten CANDIDATE +en Periventricular heterotopia HP:0007165 rdfs:label nl Periventriculaire grijze stof heterotopie CANDIDATE +en Periventricular laminar heterotopia HP:0032389 rdfs:label nl Periventricular laminar heterotopia NOT_TRANSLATED +en Periventricular leukomalacia HP:0006970 rdfs:label nl Periventriculaire leukomalacie CANDIDATE +en Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia HP:0006970 IAO:0000115 nl Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia NOT_TRANSLATED +en Periventricular nodular heterotopia HP:0032388 rdfs:label nl Periventricular nodular heterotopia NOT_TRANSLATED +en Periventricular pseudocyst HP:0025728 rdfs:label nl Periventricular pseudocyst NOT_TRANSLATED +en Periventricular ribbonlike heterotopia HP:0032390 rdfs:label nl Periventricular ribbonlike heterotopia NOT_TRANSLATED +en Periventricular white matter hyperintensities HP:0030891 rdfs:label nl Periventriculaire witte stof hyperdensiteiten CANDIDATE +en Periventricular white matter hypodensities HP:0012794 rdfs:label nl Periventriculaire witte stof hypodensiteiten CANDIDATE +en Permanent atrial fibrillation HP:0004754 rdfs:label nl Permanent atriumfibrilleren CANDIDATE +en Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated HP:0008523 IAO:0000115 nl Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated NOT_TRANSLATED +en Permanent junctional reciprocating tachycardia HP:0011690 rdfs:label nl Permanent junctional reciprocating tachycardia NOT_TRANSLATED +en Peromelia HP:0009828 rdfs:label nl Peromelie CANDIDATE +en Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation HP:0009820 IAO:0000115 nl Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation NOT_TRANSLATED +en Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation HP:0009814 IAO:0000115 nl Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation NOT_TRANSLATED +en Peroneal muscle atrophy HP:0009049 rdfs:label nl Peroneale spieratrofie CANDIDATE +en Peroneal muscle weakness HP:0011727 rdfs:label nl Peroneale spierzwakte CANDIDATE +en Perseveration HP:0030223 rdfs:label nl Perseveratie CANDIDATE +en Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact HP:0030223 IAO:0000115 nl Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact NOT_TRANSLATED +en Persistance of a posterior remnant of the hyaloid artery located at the optic disc HP:0030743 IAO:0000115 nl Persistance of a posterior remnant of the hyaloid artery located at the optic disc NOT_TRANSLATED +en Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers HP:0032549 IAO:0000115 nl Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers NOT_TRANSLATED +en Persistence of blood flow through the ductus venosus for longer than the normal time after birth HP:0012021 IAO:0000115 nl Persistence of blood flow through the ductus venosus for longer than the normal time after birth NOT_TRANSLATED +en Persistence of hemoglobin F HP:0011904 rdfs:label nl Persistentie van hemoglobine F CANDIDATE +en Persistence of immune complexes in the blood circulation HP:0012224 IAO:0000115 nl Persistence of immune complexes in the blood circulation NOT_TRANSLATED +en Persistence of primary teeth HP:0006335 rdfs:label nl Persistentie van primaire tanden CANDIDATE +en Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life HP:0100885 IAO:0000115 nl Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life NOT_TRANSLATED +en Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth HP:0009922 IAO:0000115 nl Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth NOT_TRANSLATED +en Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract HP:0007968 IAO:0000115 nl Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract NOT_TRANSLATED +en Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth HP:0006335 IAO:0000115 nl Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth NOT_TRANSLATED +en Persistence of the stapedial artery, which normally regresses during embryonic life HP:0011475 IAO:0000115 nl Persistence of the stapedial artery, which normally regresses during embryonic life NOT_TRANSLATED +en Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus HP:0010479 IAO:0000115 nl Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus NOT_TRANSLATED +en Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus HP:0100525 IAO:0000115 nl Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus NOT_TRANSLATED +en Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host HP:0032248 IAO:0000115 nl Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host NOT_TRANSLATED +en Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis) HP:0025712 IAO:0000115 nl Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis) NOT_TRANSLATED +en Persistent CMV viremia HP:0032247 rdfs:label nl Persistent CMV viremia NOT_TRANSLATED +en Persistent EBV viremia HP:0020072 rdfs:label nl Persistent EBV viremia NOT_TRANSLATED +en Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways HP:0002110 IAO:0000115 nl Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways NOT_TRANSLATED +en Persistent asymmetrical tonic neck reflex HP:0032549 rdfs:label nl Persistent asymmetrical tonic neck reflex NOT_TRANSLATED +en Persistent bleeding after trauma HP:0001934 rdfs:label nl Persisterende bloeding na trauma CANDIDATE +en Persistent blue color of the skin that surrounds the mouth HP:0032556 IAO:0000115 nl Persistent blue color of the skin that surrounds the mouth NOT_TRANSLATED +en Persistent cloaca HP:0012621 rdfs:label nl Persisterende cloaca CANDIDATE +en Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior HP:0000729 IAO:0000115 nl Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior NOT_TRANSLATED +en Persistent difficulty initiating or maintaining sleep HP:0100785 IAO:0000115 nl Persistent difficulty initiating or maintaining sleep NOT_TRANSLATED +en Persistent fetal circulation HP:0011726 rdfs:label nl Persisterende foetale circulatie CANDIDATE +en Persistent fever HP:0033399 rdfs:label nl Persistent fever NOT_TRANSLATED +en Persistent head lag HP:0032988 rdfs:label nl Persistent head lag NOT_TRANSLATED +en Persistent human papillomavirus infection HP:0020114 rdfs:label nl Persistent human papillomavirus infection NOT_TRANSLATED +en Persistent lactic acidosis HP:0004898 rdfs:label nl Persisterende lactaat acidose CANDIDATE +en Persistent left superior vena cava HP:0005301 rdfs:label nl Persisterende linker vena cava superior CANDIDATE +en Persistent open anterior fontanelle HP:0004474 rdfs:label nl Persisterende open anterieure fontanel CANDIDATE +en Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults HP:0031473 IAO:0000115 nl Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults NOT_TRANSLATED +en Persistent overgrowth of Candida albicans in the gastrointestinal tract HP:0005411 IAO:0000115 nl Persistent overgrowth of Candida albicans in the gastrointestinal tract NOT_TRANSLATED +en Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months HP:0012532 IAO:0000115 nl Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months NOT_TRANSLATED +en Persistent patent ductus venosus HP:0012021 rdfs:label nl Persisterende patente ductus venosus CANDIDATE +en Persistent preoccupation with parts of objects HP:4000069 rdfs:label nl Persistent preoccupation with parts of objects NOT_TRANSLATED +en Persistent presence of Epstein-Barr virus in the blood HP:0020072 IAO:0000115 nl Persistent presence of Epstein-Barr virus in the blood NOT_TRANSLATED +en Persistent pupillary membrane HP:0009917 rdfs:label nl Persisterende pupillaire membranen CANDIDATE +en Persistent repetition of actions HP:0031432 rdfs:label nl Persisterende herhaling van acties CANDIDATE +en Persistent repetition of words HP:0031431 rdfs:label nl Persisterende herhaling van woorden CANDIDATE +en Persistent stapedial artery HP:0011475 rdfs:label nl Persistent stapedial artery NOT_TRANSLATED +en Persistent vaginal dryness HP:0031088 IAO:0000115 nl Persistent vaginal dryness NOT_TRANSLATED +en Persistent viremia HP:0032248 rdfs:label nl Persistent viremia NOT_TRANSLATED +en Personality changes HP:0000751 rdfs:label nl Veranderingen van de persoonlijkheid CANDIDATE +en Personality disorder HP:0012075 rdfs:label nl Persoonlijkheidsstoornis CANDIDATE +en Pes cavus HP:0001761 rdfs:label nl Pes cavus CANDIDATE +en Pes planus HP:0001763 rdfs:label nl Pes planus CANDIDATE +en Pes valgus HP:0008081 rdfs:label nl Pes valgus CANDIDATE +en Petechiae HP:0000967 rdfs:label nl Petechiën CANDIDATE +en Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae HP:0000967 IAO:0000115 nl Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae NOT_TRANSLATED +en Peters anomaly HP:0000659 rdfs:label nl Peters anomalie CANDIDATE +en Ph-positive acute lymphoblastic leukemia HP:0004848 rdfs:label nl Ph-positieve acute lymfatische leukemie CANDIDATE +en Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues HP:0012156 IAO:0000115 nl Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues NOT_TRANSLATED +en Phakodonesis HP:0012629 rdfs:label nl Phakodonesis CANDIDATE +en Phalangeal cone-shaped epiphyses HP:0034281 rdfs:label nl Phalangeal cone-shaped epiphyses NOT_TRANSLATED +en Phalangeal dislocation HP:0006243 rdfs:label nl Falangeale dislocatie CANDIDATE +en Phalanges of the fingers becoming thinner toward the distal end HP:0006192 IAO:0000115 nl Phalanges of the fingers becoming thinner toward the distal end NOT_TRANSLATED +en Phantageusia HP:0033847 rdfs:label nl Phantageusia NOT_TRANSLATED +en Phantosmia HP:0033693 rdfs:label nl Phantosmia NOT_TRANSLATED +en Pharyngalgia HP:0033050 rdfs:label nl Pharyngalgia NOT_TRANSLATED +en Pharyngeal edema HP:0011855 rdfs:label nl Faryngeaal oedeem CANDIDATE +en Pharyngeal exudate HP:0034035 rdfs:label nl Pharyngeal exudate NOT_TRANSLATED +en Pharyngeal spasms provoked by an attempt to drink HP:0032505 IAO:0000115 nl Pharyngeal spasms provoked by an attempt to drink NOT_TRANSLATED +en Pharyngitis HP:0025439 rdfs:label nl Faryngitis CANDIDATE +en Phenotypic abnormality HP:0000118 rdfs:label nl Fenotypische abnormaliteit CANDIDATE +en Phenotypic variability HP:0003812 rdfs:label nl Fenotypische variabiliteit CANDIDATE +en Phenylalaninuria HP:0032351 rdfs:label nl Phenylalaninuria NOT_TRANSLATED +en Phenylpyruvic acidemia HP:0004920 rdfs:label nl Fenylpyruvaat acidemie CANDIDATE +en Pheochromocytoma HP:0002666 rdfs:label nl Feochromocytoom CANDIDATE +en Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia HP:0006737 IAO:0000115 nl Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia NOT_TRANSLATED +en Pheochromocytoma originating from the adrenal medulla HP:0006748 IAO:0000115 nl Pheochromocytoma originating from the adrenal medulla NOT_TRANSLATED +en Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines HP:0002666 IAO:0000115 nl Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines NOT_TRANSLATED +en Philtrum with midline raphe HP:0011826 rdfs:label nl Filtrum met middellijn raphe CANDIDATE +en Phimosis HP:0001741 rdfs:label nl Phimosis CANDIDATE +en Phobia HP:5200232 rdfs:label nl Fobie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Phocomelia HP:0009829 rdfs:label nl Focomelie CANDIDATE +en Phocomelia affecting only the lower limbs HP:0009819 IAO:0000115 nl Phocomelia affecting only the lower limbs NOT_TRANSLATED +en Phocomelia involving all four extremities HP:0030721 IAO:0000115 nl Phocomelia involving all four extremities NOT_TRANSLATED +en Phonic tics HP:0100035 rdfs:label nl Fonetische tics CANDIDATE +en Phonophobia HP:0002183 rdfs:label nl Phonophobie CANDIDATE +en Phosphaturic mesenchymal tumor HP:0033987 rdfs:label nl Phosphaturic mesenchymal tumor NOT_TRANSLATED +en Phosphoethanolaminuria HP:0003239 rdfs:label nl Fosfo-ethanolaminurie CANDIDATE +en Phosphohydroxylysinuria HP:0031870 rdfs:label nl Phosphohydroxylysinuria NOT_TRANSLATED +en Photophobia HP:0000613 rdfs:label nl Fotofobie CANDIDATE +en Photopsia HP:0030786 rdfs:label nl Fotopsie CANDIDATE +en Photoreceptor layer loss on macular OCT HP:0030609 rdfs:label nl Fotoreceptor-laag verlies op macula OCT CANDIDATE +en Photoreceptor outer segment loss on macular OCT HP:0030610 rdfs:label nl Fotoreceptor buitenste-segment-verlies op macula OCT CANDIDATE +en Photosensitive myoclonic seizure HP:0001327 rdfs:label nl Fotomyoclonische aanvallen CANDIDATE +en Photosensitive myoclonic-tonic-clonic seizure HP:0032855 rdfs:label nl Photosensitive myoclonic-tonic-clonic seizure NOT_TRANSLATED +en Photosensitive tonic-clonic seizure HP:0007207 rdfs:label nl Fotosensitieve tonisch-clonische insulten CANDIDATE +en Photosensitivity of the skin occurring early in life HP:0007396 IAO:0000115 nl Photosensitivity of the skin occurring early in life NOT_TRANSLATED +en Phthisis bulbi HP:0000667 rdfs:label nl Phthisis bulbi CANDIDATE +en Physical urticaria HP:0410134 rdfs:label nl Physical urticaria NOT_TRANSLATED +en Physiological reactivity to cues HP:0032939 rdfs:label nl Physiological reactivity to cues NOT_TRANSLATED +en Pica HP:0011856 rdfs:label nl Pica CANDIDATE +en Piebaldism HP:0007544 rdfs:label nl Piebaldisme CANDIDATE +en Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution HP:0007544 IAO:0000115 nl Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution NOT_TRANSLATED +en Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate HP:0000201 IAO:0000115 nl Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate NOT_TRANSLATED +en Pierre-Robin sequence HP:0000201 rdfs:label nl Pierre Robin sequentie CANDIDATE +en Piezogenic pedal papules HP:0025509 rdfs:label nl Piezogene papels CANDIDATE +en Pigment deposition in the trabecular meshwork HP:0012631 rdfs:label nl Pigment depositie in trabeculair netwerk CANDIDATE +en Pigment gallstones HP:0011981 rdfs:label nl Pigment galstenen CANDIDATE +en Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone) HP:0007737 IAO:0000115 nl Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone) NOT_TRANSLATED +en Pigmentary retinopathy HP:0000580 rdfs:label nl Pigmentaire retinopathie CANDIDATE +en Pigmentation anomalies of sun-exposed skin HP:0007623 rdfs:label nl Pigmentatie afwijkingen van aan zon-blootgestelde huid CANDIDATE +en Pigmentation of the sclera HP:0007832 rdfs:label nl Pigmentatie van de sclera CANDIDATE +en Pigmented micronodular adrenocortical disease HP:0001580 rdfs:label nl Gepigmenteerde micronodulaire adrenocorticale ziekte CANDIDATE +en Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope HP:0003777 IAO:0000115 nl Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope NOT_TRANSLATED +en Pili canaliculi HP:0002235 rdfs:label nl Pili canaliculi CANDIDATE +en Pili torti HP:0003777 rdfs:label nl Pili torti CANDIDATE +en Pill-rolling tremor HP:0025387 rdfs:label nl Pil-rollende tremor CANDIDATE +en Pilocytic astrocytoma HP:0033680 rdfs:label nl Pilocytic astrocytoma NOT_TRANSLATED +en Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm HP:0030434 IAO:0000115 nl Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm NOT_TRANSLATED +en Pilomatrixoma HP:0030434 rdfs:label nl Pilomatrixoom CANDIDATE +en Pilonidal abscess HP:0010771 rdfs:label nl Pilonidaal abces CANDIDATE +en Pilonidal fistula HP:0010770 rdfs:label nl Pilonidale fistel CANDIDATE +en Pilonidal sinus HP:0010769 rdfs:label nl Pilonidale sinus CANDIDATE +en Pineal cyst HP:0012683 rdfs:label nl Epifyse cyste CANDIDATE +en Pineal gland calcification HP:0012682 rdfs:label nl Epifyse calcificatie CANDIDATE +en Pineal parenchymal cell neoplasm HP:0030694 rdfs:label nl Pinealis-parenchym neoplasma CANDIDATE +en Pinealoma HP:0010799 rdfs:label nl Pinealoom CANDIDATE +en Pineoblastoma HP:0030408 rdfs:label nl Pineoblastoom CANDIDATE +en Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells HP:0030408 IAO:0000115 nl Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells NOT_TRANSLATED +en Pineocytoma HP:0030407 rdfs:label nl Pineocytoom CANDIDATE +en Pinguecula HP:0031830 rdfs:label nl Pinguecula NOT_TRANSLATED +en Pinhole visual acuity 0.1 LogMAR HP:0030569 rdfs:label nl Stenopeïsche opening visus 0.1 LogMAR CANDIDATE +en Pinhole visual acuity 0.2 LogMAR HP:0030570 rdfs:label nl Stenopeïsche opening visus 0.2 LogMAR CANDIDATE +en Pinhole visual acuity 0.3 LogMAR HP:0030571 rdfs:label nl Stenopeïsche opening visus 0.3 LogMAR CANDIDATE +en Pinhole visual acuity 0.4 LogMAR HP:0030572 rdfs:label nl Stenopeïsche opening visus 0.4 LogMAR CANDIDATE +en Pinhole visual acuity 0.5 LogMAR HP:0030573 rdfs:label nl Stenopeïsche opening visus 0.5 LogMAR CANDIDATE +en Pinhole visual acuity 0.6 LogMAR HP:0030574 rdfs:label nl Stenopeïsche opening visus 0.6 LogMAR CANDIDATE +en Pinhole visual acuity 0.7 LogMAR HP:0030575 rdfs:label nl Stenopeïsche opening visus 0.7 LogMAR CANDIDATE +en Pinhole visual acuity 0.8 LogMAR HP:0030576 rdfs:label nl Stenopeïsche opening visus 0.8 LogMAR CANDIDATE +en Pinhole visual acuity 0.9 LogMAR HP:0030577 rdfs:label nl Stenopeïsche opening visus 0.9 LogMAR CANDIDATE +en Pinhole visual acuity 1.0 LogMAR HP:0030578 rdfs:label nl Stenopeïsche opening visus 1.0 LogMAR CANDIDATE +en Pinhole visual acuity 1.1 LogMAR HP:0030579 rdfs:label nl Stenopeïsche opening visus 1.1 LogMAR CANDIDATE +en Pinhole visual acuity 1.2 LogMAR HP:0030580 rdfs:label nl Stenopeïsche opening visus 1.2 LogMAR CANDIDATE +en Pinhole visual acuity 1.3 LogMAR HP:0030581 rdfs:label nl Stenopeïsche opening visus 1.3 LogMAR CANDIDATE +en Pinhole visual acuity 2.0 LogMAR HP:0030582 rdfs:label nl Stenopeïsche opening visus 2.0 LogMAR CANDIDATE +en Pinhole visual acuity 3.0 LogMAR HP:0030583 rdfs:label nl Stenopeïsche opening visus 3.0 LogMAR CANDIDATE +en Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe HP:0031293 IAO:0000115 nl Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe NOT_TRANSLATED +en Pink urine HP:0032001 rdfs:label nl Pink urine NOT_TRANSLATED +en Pit in the midline of the philtral groove HP:0011828 IAO:0000115 nl Pit in the midline of the philtral groove NOT_TRANSLATED +en Pits in the earlobes at the location where ears are typically pierced for earrings HP:0004461 IAO:0000115 nl Pits in the earlobes at the location where ears are typically pierced for earrings NOT_TRANSLATED +en Pituicytoma HP:0011754 rdfs:label nl Pituicytoom CANDIDATE +en Pituitary acidophilic stem cell adenoma HP:0011758 rdfs:label nl Pituitary acidophilic stem cell adenoma NOT_TRANSLATED +en Pituitary adenoma HP:0002893 rdfs:label nl Hypofyse adenoom CANDIDATE +en Pituitary calcification HP:0010513 rdfs:label nl Hypofyse verkalking CANDIDATE +en Pituitary carcinoma HP:0011763 rdfs:label nl Hypofyse carcinoom CANDIDATE +en Pituitary corticotropic cell adenoma HP:0008291 rdfs:label nl Hypofyse corticotropische cel adenoom CANDIDATE +en Pituitary dwarfism HP:0000839 rdfs:label nl Hypofyse dwerggroei CANDIDATE +en Pituitary gland cyst HP:0410278 rdfs:label nl Pituitary gland cyst NOT_TRANSLATED +en Pituitary gonadotropic cell adenoma HP:0011759 rdfs:label nl Hypofysair gonadotroop adenoom CANDIDATE +en Pituitary growth hormone cell adenoma HP:0011760 rdfs:label nl Hypofysair somatotroof adenoom CANDIDATE +en Pituitary hypothyroidism HP:0008245 rdfs:label nl Hypofysaire hypothyreoïdie CANDIDATE +en Pituitary macroadenoma HP:0025693 rdfs:label nl Pituitary macroadenoma NOT_TRANSLATED +en Pituitary microadenoma HP:0025694 rdfs:label nl Pituitary microadenoma NOT_TRANSLATED +en Pituitary null cell adenoma HP:0011761 rdfs:label nl Hypofysair niet-secreterend adenoom CANDIDATE +en Pituitary prolactin cell adenoma HP:0006767 rdfs:label nl Prolactinoom CANDIDATE +en Pituitary resistance to thyroid hormone HP:0008227 rdfs:label nl Hypofyse weerstand tegen schildklierhormoon CANDIDATE +en Pituitary spindle cell oncocytoma HP:0011764 rdfs:label nl Pituitary spindle cell oncocytoma NOT_TRANSLATED +en Pituitary thyrotropic cell adenoma HP:0011762 rdfs:label nl Hypofysair TSH-producerend adenoom CANDIDATE +en Placement of the nipples at a lower than normal location HP:0002562 IAO:0000115 nl Placement of the nipples at a lower than normal location NOT_TRANSLATED +en Placenta acreta HP:0025654 rdfs:label nl Placenta acreta NOT_TRANSLATED +en Placenta increta HP:0025655 rdfs:label nl Placenta increta NOT_TRANSLATED +en Placenta percreta HP:0025653 rdfs:label nl Placenta percreta NOT_TRANSLATED +en Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs HP:0025653 IAO:0000115 nl Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs NOT_TRANSLATED +en Placental abruption HP:0011419 rdfs:label nl Placentaloslating CANDIDATE +en Placental infarction HP:0011416 rdfs:label nl Placenta-infarct CANDIDATE +en Placental mesenchymal dysplasia HP:0032165 rdfs:label nl Placental mesenchymal dysplasia NOT_TRANSLATED +en Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells HP:0032165 IAO:0000115 nl Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells NOT_TRANSLATED +en Placoid macular lesion HP:0025110 rdfs:label nl Placoïde macula laesie CANDIDATE +en Plagiocephaly HP:0001357 rdfs:label nl Plagiocefalie CANDIDATE +en Plant based food allergy HP:0410332 rdfs:label nl Plant based food allergy NOT_TRANSLATED +en Plant product allergy HP:0410338 rdfs:label nl Plant product allergy NOT_TRANSLATED +en Plantar crease between first and second toes HP:0008107 rdfs:label nl Plantar crease between first and second toes NOT_TRANSLATED +en Plantar edema HP:0025537 rdfs:label nl Plantair oedeem CANDIDATE +en Plantar flexion contractures HP:0008112 rdfs:label nl Plantaire flexiecontracturen CANDIDATE +en Plantar hyperkeratosis HP:0007556 rdfs:label nl Plantaire hyperkeratose CANDIDATE +en Plantar pits HP:0010612 rdfs:label nl Plantaire pits CANDIDATE +en Plantar telangiectasia HP:0100870 rdfs:label nl Plantaire teleangiëctasieën CANDIDATE +en Plantar warts HP:0033005 rdfs:label nl Plantar warts NOT_TRANSLATED +en Plaque-like facial hemangioma HP:0007434 rdfs:label nl Plaque-achtige faciaal hemangioom CANDIDATE +en Plasma/serum xenobiotic HP:0500100 rdfs:label nl Plasma/serum xenobiotic NOT_TRANSLATED +en Plasmacytoma HP:0011857 rdfs:label nl Plasmacytoom CANDIDATE +en Plasmacytosis HP:0030150 rdfs:label nl Plasmacytose CANDIDATE +en Platelet anisocytosis HP:0032438 rdfs:label nl Platelet anisocytosis NOT_TRANSLATED +en Platelet antibody positive HP:0003454 rdfs:label nl Positieve antistoffen tegen bloedplaatjes CANDIDATE +en Platelet-activating factor acetylhydrolase deficiency HP:0040175 rdfs:label nl Platelet-activating factor acetylhydrolase deficiëntie CANDIDATE +en Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion HP:0030396 IAO:0000115 nl Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion NOT_TRANSLATED +en Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration HP:0031126 IAO:0000115 nl Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration NOT_TRANSLATED +en Platonychia HP:0030803 rdfs:label nl Platonychia CANDIDATE +en Platybasia HP:0002691 rdfs:label nl Platybasie CANDIDATE +en Platypnea HP:0033368 rdfs:label nl Platypnea NOT_TRANSLATED +en Platyspondyly HP:0000926 rdfs:label nl Platiespondylie CANDIDATE +en Platystencephaly HP:0033011 rdfs:label nl Platystencephaly NOT_TRANSLATED +en Pleomorphic cholangitis HP:0030990 rdfs:label nl Pleomorfe cholangitis CANDIDATE +en Pleomorphic xanthoastrocytoma HP:0033682 rdfs:label nl Pleomorphic xanthoastrocytoma NOT_TRANSLATED +en Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth HP:0033682 IAO:0000115 nl Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth NOT_TRANSLATED +en Plethora HP:0001050 rdfs:label nl Overmaat CANDIDATE +en Pleural cobblestoning HP:0033344 rdfs:label nl Pleural cobblestoning NOT_TRANSLATED +en Pleural cyst HP:0025422 rdfs:label nl Pleurale cyste CANDIDATE +en Pleural effusion HP:0002202 rdfs:label nl Pleurale effusie CANDIDATE +en Pleural empyema HP:0011919 rdfs:label nl Pleuraal empyeem CANDIDATE +en Pleural lymphangiectasia HP:0006531 rdfs:label nl Pleurale lymfangiëctasieën CANDIDATE +en Pleural mass HP:0033824 rdfs:label nl Pleural mass NOT_TRANSLATED +en Pleural mesothelioma HP:0100002 rdfs:label nl Pleuraal mesothelioom CANDIDATE +en Pleural plaque HP:0033398 rdfs:label nl Pleural plaque NOT_TRANSLATED +en Pleural rub HP:0032000 rdfs:label nl Pleural rub NOT_TRANSLATED +en Pleural thickening HP:0031944 rdfs:label nl Pleural thickening NOT_TRANSLATED +en Pleuritic chest pain HP:0033771 rdfs:label nl Pleuritic chest pain NOT_TRANSLATED +en Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling HP:0033771 IAO:0000115 nl Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling NOT_TRANSLATED +en Pleuritis HP:0002102 rdfs:label nl Pleuritis CANDIDATE +en Pleuropulmonary blastoma HP:0100528 rdfs:label nl Pleuropulmonair blastoom CANDIDATE +en Plexiform neurofibroma HP:0009732 rdfs:label nl Plexiforme neurofibromen CANDIDATE +en Pneumocystis carinii pneumonia HP:0034286 rdfs:label nl Pneumocystis carinii pneumonia NOT_TRANSLATED +en Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations HP:0034286 IAO:0000115 nl Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations NOT_TRANSLATED +en Pneumocystis jirovecii pneumonia HP:0020102 rdfs:label nl Pneumocystis jirovecii pneumonia NOT_TRANSLATED +en Pneumomediastinum HP:0025421 rdfs:label nl Pneumomediastinum CANDIDATE +en Pneumonia HP:0002090 rdfs:label nl Pneumonie CANDIDATE +en Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract HP:0011951 IAO:0000115 nl Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract NOT_TRANSLATED +en Pneumothorax HP:0002107 rdfs:label nl Pneumothorax CANDIDATE +en Pneumothorax occurring neonatally without traumatic injury to the chest or lung HP:0004876 IAO:0000115 nl Pneumothorax occurring neonatally without traumatic injury to the chest or lung NOT_TRANSLATED +en Pneumothorax occurring without traumatic injury to the chest or lung HP:0002108 IAO:0000115 nl Pneumothorax occurring without traumatic injury to the chest or lung NOT_TRANSLATED +en Podagra HP:0001854 rdfs:label nl Jicht CANDIDATE +en Podocyte cytoskeletal condensation HP:0033492 rdfs:label nl Podocyte cytoskeletal condensation NOT_TRANSLATED +en Podocyte foot process effacement HP:0031266 rdfs:label nl Podocyte foot process effacement NOT_TRANSLATED +en Podocyte hypertrophy HP:0020133 rdfs:label nl Podocyte hypertrophy NOT_TRANSLATED +en Podocyte infolding HP:0033483 rdfs:label nl Podocyte infolding NOT_TRANSLATED +en Podocyte microvillous transformation HP:0033238 rdfs:label nl Podocyte microvillous transformation NOT_TRANSLATED +en Podocyte myelin figures HP:0033265 rdfs:label nl Podocyte myelin figures NOT_TRANSLATED +en Poikilocytosis HP:0004447 rdfs:label nl Poikilocytose CANDIDATE +en Poikiloderma HP:0001029 rdfs:label nl Poikiloderma CANDIDATE +en Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias HP:0001029 IAO:0000115 nl Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias NOT_TRANSLATED +en Point-shaped (punctate) calcifications affecting the carpal bones HP:0004241 IAO:0000115 nl Point-shaped (punctate) calcifications affecting the carpal bones NOT_TRANSLATED +en Pointed chin HP:0000307 rdfs:label nl Spitse kin CANDIDATE +en Pointed hand bones HP:0004287 rdfs:label nl Puntige hand botten CANDIDATE +en Pointed helix HP:0100810 rdfs:label nl Puntige helix CANDIDATE +en Pointed humeral metaphysis HP:0003917 rdfs:label nl Puntige metafyse van de humerus CANDIDATE +en Pointed proximal second through fifth metacarpals HP:0001223 rdfs:label nl Puntige proximale tweede tot vijfde middelhandsbeentjes CANDIDATE +en Pointed ulna HP:0003990 rdfs:label nl Puntige ulna CANDIDATE +en Pointed ulnar metaphysis HP:0004044 rdfs:label nl Puntige metafyse van de ulna CANDIDATE +en Polar cataract HP:0010696 rdfs:label nl Polair cataract CANDIDATE +en Poliosis HP:0002290 rdfs:label nl Poliosis CANDIDATE +en Pollakisuria HP:0100515 rdfs:label nl Pollakisurie CANDIDATE +en Polyalveolar lobe HP:0033241 rdfs:label nl Polyalveolar lobe NOT_TRANSLATED +en Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion HP:0040311 IAO:0000115 nl Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion NOT_TRANSLATED +en Polyarticular arthritis HP:0005764 rdfs:label nl Polyarticulaire artritis CANDIDATE +en Polyarticular arthropathy HP:0005195 rdfs:label nl Polyarticulaire artropathie CANDIDATE +en Polyarticular chondrocalcinosis HP:0005017 rdfs:label nl Poly-articulaire chondrocalcinose CANDIDATE +en Polycalycosis HP:0025360 rdfs:label nl Polycalycosis NOT_TRANSLATED +en Polychromasia HP:0034609 rdfs:label nl Polychromasie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Polyclonal elevation of IgM HP:0003459 rdfs:label nl Polyclonale verhoging van IgM CANDIDATE +en Polyclonal elevation of circulating IgA HP:0032333 rdfs:label nl Polyclonal elevation of circulating IgA NOT_TRANSLATED +en Polyclonal elevation of circulating IgE HP:0032339 rdfs:label nl Polyclonal elevation of circulating IgE NOT_TRANSLATED +en Polyclonal elevation of circulating IgG HP:0032288 rdfs:label nl Polyclonal elevation of circulating IgG NOT_TRANSLATED +en Polycoria HP:0011500 rdfs:label nl Polycorie CANDIDATE +en Polycyclic HP:0031450 rdfs:label nl Polycyclisch CANDIDATE +en Polycystic kidney dysplasia HP:0000113 rdfs:label nl Polycysteuze nierdysplasie CANDIDATE +en Polycystic liver disease HP:0006557 rdfs:label nl Polycysteuze leverziekte CANDIDATE +en Polycystic ovaries HP:0000147 rdfs:label nl Polycysteuze ovaria CANDIDATE +en Polycythemia HP:0001901 rdfs:label nl Polycythemie CANDIDATE +en Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal HP:0001901 IAO:0000115 nl Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal NOT_TRANSLATED +en Polydactyly HP:0010442 rdfs:label nl Polydactylie CANDIDATE +en Polydactyly affecting the 2nd finger HP:0009946 rdfs:label nl Polydactylie van de 2e vinger CANDIDATE +en Polydactyly affecting the 2nd toe HP:0010328 rdfs:label nl Polydactylie van de 2e teen CANDIDATE +en Polydactyly affecting the 3rd finger HP:0009958 rdfs:label nl Polydactylie van de 3e vinger CANDIDATE +en Polydactyly affecting the 3rd toe HP:0010334 rdfs:label nl Polydactylie van de 3e teen CANDIDATE +en Polydactyly affecting the 4th finger HP:0009971 rdfs:label nl Polydactylie van de 4e vinger CANDIDATE +en Polydactyly affecting the 4th toe HP:0010340 rdfs:label nl Polydactylie van de 4e teen CANDIDATE +en Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit HP:0001830 IAO:0000115 nl Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit NOT_TRANSLATED +en Polydipsia HP:0001959 rdfs:label nl Polydipsie CANDIDATE +en Polyembolokoilamania HP:0032508 rdfs:label nl Polyembolokoilamania NOT_TRANSLATED +en Polygenic inheritance HP:0010982 rdfs:label nl Polygenetische overerving CANDIDATE +en Polygonal renal calices HP:0025359 rdfs:label nl Polygonale nierkelken CANDIDATE +en Polyhydramnios HP:0001561 rdfs:label nl Polyhydramnion CANDIDATE +en Polymelia HP:0033766 rdfs:label nl Polymelia NOT_TRANSLATED +en Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis) HP:0033766 IAO:0000115 nl Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis) NOT_TRANSLATED +en Polymenorrhea HP:0400007 rdfs:label nl Polymenorroe CANDIDATE +en Polymicrogyria HP:0002126 rdfs:label nl Polymicrogyrie CANDIDATE +en Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly HP:0012650 IAO:0000115 nl Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly NOT_TRANSLATED +en Polymicrogyria affecting one or multiple small areas of the cerebral cortex HP:0032471 IAO:0000115 nl Polymicrogyria affecting one or multiple small areas of the cerebral cortex NOT_TRANSLATED +en Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex HP:0032415 IAO:0000115 nl Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex NOT_TRANSLATED +en Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds) HP:0002126 IAO:0000115 nl Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds) NOT_TRANSLATED +en Polymicrogyria that affects all or some of both cerebral hemispheres HP:0025646 IAO:0000115 nl Polymicrogyria that affects all or some of both cerebral hemispheres NOT_TRANSLATED +en Polyminimyoclonus HP:0031986 rdfs:label nl Polyminimyoclonus NOT_TRANSLATED +en Polymorphic and polytopic ventricular extrasystoles HP:0006696 rdfs:label nl Polymorfe en polytopische ventriculaire extrasystoles CANDIDATE +en Polymorphic focal epileptiform discharges HP:0011192 rdfs:label nl Polymorfe focale epileptiforme ontladingen CANDIDATE +en Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration HP:0004758 IAO:0000115 nl Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration NOT_TRANSLATED +en Polymorphic ventricular tachycardia HP:0031677 rdfs:label nl Polymorfe ventriculaire tachycardie CANDIDATE +en Polymorphic vesicular eruption HP:0033699 rdfs:label nl Polymorphic vesicular eruption NOT_TRANSLATED +en Polymorphous light eruption HP:0032379 rdfs:label nl Polymorphous light eruption NOT_TRANSLATED +en Polymorphous posterior corneal dystrophy HP:0007915 rdfs:label nl Polymorfe posterieure cornea dystrofie CANDIDATE +en Polyneuritis HP:0031003 rdfs:label nl Polyneuritis CANDIDATE +en Polyneuropathy HP:0001271 rdfs:label nl Polyneuropathie CANDIDATE +en Polyostotic fibrous dysplasia HP:0010735 rdfs:label nl Polyostotische fibreuze dysplasie CANDIDATE +en Polyotia HP:0100687 rdfs:label nl Polyotie CANDIDATE +en Polyp-like protrusions which are histologically hamartomas located in the stomach HP:0004795 IAO:0000115 nl Polyp-like protrusions which are histologically hamartomas located in the stomach NOT_TRANSLATED +en Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture HP:0004390 IAO:0000115 nl Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture NOT_TRANSLATED +en Polyphagia HP:0002591 rdfs:label nl Polyfagie CANDIDATE +en Polypoidal choroidal vasculopathy HP:0025569 rdfs:label nl Polypoïdale choroïdale vasculopathie CANDIDATE +en Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis HP:0100582 IAO:0000115 nl Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis NOT_TRANSLATED +en Polysplenia HP:0001748 rdfs:label nl Polysplenie CANDIDATE +en Polysplenia is a congenital disease manifested by multiple small accessory spleens HP:0001748 IAO:0000115 nl Polysplenia is a congenital disease manifested by multiple small accessory spleens NOT_TRANSLATED +en Polysyndactyly of hallux HP:0005873 rdfs:label nl Polysyndactylie van de hallux CANDIDATE +en Polyuria HP:0000103 rdfs:label nl Polyurie CANDIDATE +en Pontine ischemic lacunes HP:0032570 rdfs:label nl Pontine ischemic lacunes NOT_TRANSLATED +en Pontine tegmental cap HP:0030975 rdfs:label nl Pontine tegmental cap NOT_TRANSLATED +en Pontocerebellar atrophy HP:0006879 rdfs:label nl Pontocerebellaire atrofie CANDIDATE +en Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay HP:0012175 IAO:0000115 nl Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay NOT_TRANSLATED +en Poor appetite HP:0004396 rdfs:label nl Slechte eetlust CANDIDATE +en Poor conversational reciprocity HP:4000092 rdfs:label nl Poor conversational reciprocity NOT_TRANSLATED +en Poor coordination HP:0002370 rdfs:label nl Slechte coördinatie CANDIDATE +en Poor eye contact HP:0000817 rdfs:label nl Slecht oogcontact CANDIDATE +en Poor fine motor coordination HP:0007010 rdfs:label nl Slechte fijne motoriek CANDIDATE +en Poor gross motor coordination HP:0007015 rdfs:label nl Slechte grove motoriek CANDIDATE +en Poor hand-eye coordination HP:0007057 rdfs:label nl Slechte hand-oog coördinatie CANDIDATE +en Poor head control HP:0002421 rdfs:label nl Slechte controle van het hoofd CANDIDATE +en Poor motor coordination HP:0002275 rdfs:label nl Slechte motor coördinatie CANDIDATE +en Poor speech HP:0002465 rdfs:label nl Slechte spraak CANDIDATE +en Poor suck HP:0002033 rdfs:label nl Slechte zuiging CANDIDATE +en Poor visual behavior for age HP:0025152 rdfs:label nl Slecht visueel gedrag voor leeftijd CANDIDATE +en Poor wound healing HP:0001058 rdfs:label nl Slechte wondgenezing CANDIDATE +en Poorly defined or shallow palmar creases HP:0006184 IAO:0000115 nl Poorly defined or shallow palmar creases NOT_TRANSLATED +en Poorly formed metencephalon HP:0007027 rdfs:label nl Slecht gevormd metencephalon CANDIDATE +en Poorly ossified cervical vertebrae HP:0008477 rdfs:label nl Slecht geossificeerde cervicale wervels CANDIDATE +en Poorly ossified vertebrae HP:0100856 rdfs:label nl Slecht geossificeerde wervels CANDIDATE +en Popliteal pterygium HP:0009756 rdfs:label nl Popliteaal pterygium CANDIDATE +en Popliteal synovial cyst HP:0032072 rdfs:label nl Popliteal synovial cyst NOT_TRANSLATED +en Porencephalic cyst HP:0002132 rdfs:label nl Porencefale cyste CANDIDATE +en Porokeratosis HP:0200044 rdfs:label nl Porokeratose CANDIDATE +en Poroma HP:0031405 rdfs:label nl Poroom CANDIDATE +en Porphyrinuria HP:0010473 rdfs:label nl Porfyrinurie CANDIDATE +en Portal artery hyperplasia HP:4000148 rdfs:label nl Portal artery hyperplasia NOT_TRANSLATED +en Portal fibrosis HP:0006580 rdfs:label nl Portale fibrose CANDIDATE +en Portal hypertension HP:0001409 rdfs:label nl Portale hypertensie CANDIDATE +en Portal inflammation HP:0033196 rdfs:label nl Portal inflammation NOT_TRANSLATED +en Portal vein thrombosis HP:0030242 rdfs:label nl Vena porta trombose CANDIDATE +en Portosystemic collateral veins HP:0025154 rdfs:label nl Portosystemische collaterale aderen CANDIDATE +en Position HP:0012830 rdfs:label nl Positie CANDIDATE +en Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach HP:0034188 IAO:0000115 nl Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach NOT_TRANSLATED +en Positional foot deformity HP:0005656 rdfs:label nl Vervorming van de positionele voet CANDIDATE +en Positioning of a lacrimal punctum other than at the medial margins of the eyelid HP:0010748 IAO:0000115 nl Positioning of a lacrimal punctum other than at the medial margins of the eyelid NOT_TRANSLATED +en Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear HP:0011263 IAO:0000115 nl Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear NOT_TRANSLATED +en Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear) HP:0011248 IAO:0000115 nl Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear) NOT_TRANSLATED +en Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum HP:0004411 IAO:0000115 nl Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum NOT_TRANSLATED +en Positioning of the nasal tip inferior to the nasal base HP:0011833 IAO:0000115 nl Positioning of the nasal tip inferior to the nasal base NOT_TRANSLATED +en Positive Mycobacterium avium sputum culture HP:0430108 rdfs:label nl Positieve Mycobacterium avium sputumkweek OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Positive Phalen test HP:0033673 rdfs:label nl Positive Phalen test NOT_TRANSLATED +en Positive Romberg sign HP:0002403 rdfs:label nl Positief teken van Romberg CANDIDATE +en Positive blood 1,3 beta glucan test HP:0020153 rdfs:label nl Positive blood 1,3 beta glucan test NOT_TRANSLATED +en Positive blood acetaminophen test HP:0410283 rdfs:label nl Positive blood acetaminophen test NOT_TRANSLATED +en Positive blood arsenic test HP:0032450 rdfs:label nl Positive blood arsenic test NOT_TRANSLATED +en Positive blood barbiturate test HP:0500116 rdfs:label nl Positive blood barbiturate test NOT_TRANSLATED +en Positive blood lead test HP:0410399 rdfs:label nl Positive blood lead test NOT_TRANSLATED +en Positive blood molindone test HP:0410286 rdfs:label nl Positive blood molindone test NOT_TRANSLATED +en Positive carpal Tinel sign HP:0033672 rdfs:label nl Positive carpal Tinel sign NOT_TRANSLATED +en Positive direct antiglobulin test HP:0032366 rdfs:label nl Positive direct antiglobulin test NOT_TRANSLATED +en Positive fecal Clostridium botulinum test HP:0034476 rdfs:label nl Positive fecal Clostridium botulinum test NOT_TRANSLATED +en Positive ferric chloride test HP:0003612 rdfs:label nl Positieve ijzerchloride test CANDIDATE +en Positive gastric fluid barbiturate test HP:0410203 rdfs:label nl Positive gastric fluid barbiturate test NOT_TRANSLATED +en Positive hair barbiturate test HP:0410201 rdfs:label nl Positive hair barbiturate test NOT_TRANSLATED +en Positive lactose hydrogen breath test HP:4000100 rdfs:label nl Positive lactose hydrogen breath test NOT_TRANSLATED +en Positive lupus band test HP:4000107 rdfs:label nl Positive lupus band test NOT_TRANSLATED +en Positive meconium barbiturate test HP:0410200 rdfs:label nl Positive meconium barbiturate test NOT_TRANSLATED +en Positive meconium methadone test HP:0410285 rdfs:label nl Positive meconium methadone test NOT_TRANSLATED +en Positive methadone plasma/serum test HP:0410207 rdfs:label nl Positive methadone plasma/serum test NOT_TRANSLATED +en Positive norpropoxyphene blood test HP:0410284 rdfs:label nl Positive norpropoxyphene blood test NOT_TRANSLATED +en Positive pathergy test HP:0025532 rdfs:label nl Positieve pathergie test CANDIDATE +en Positive perchlorate discharge test HP:0025482 rdfs:label nl Positieve perchloraat washout test CANDIDATE +en Positive plasma/serum cotinine test HP:0410208 rdfs:label nl Positive plasma/serum cotinine test NOT_TRANSLATED +en Positive regitine blocking test HP:0003574 rdfs:label nl Positieve regitine test CANDIDATE +en Positive stool barbiturate test HP:0410202 rdfs:label nl Positive stool barbiturate test NOT_TRANSLATED +en Positive stool methadone test HP:0410307 rdfs:label nl Positive stool methadone test NOT_TRANSLATED +en Positive urine amphetamine test HP:0500112 rdfs:label nl Positive urine amphetamine test NOT_TRANSLATED +en Positive urine barbiturate test HP:0500109 rdfs:label nl Positive urine barbiturate test NOT_TRANSLATED +en Positive urine benzodiazepines test HP:0500111 rdfs:label nl Positive urine benzodiazepines test NOT_TRANSLATED +en Positive urine cannabinoid test HP:0500110 rdfs:label nl Positive urine cannabinoid test NOT_TRANSLATED +en Positive urine cocaine test HP:0500108 rdfs:label nl Positive urine cocaine test NOT_TRANSLATED +en Positive urine methadone test HP:0031841 rdfs:label nl Positive urine methadone test NOT_TRANSLATED +en Positive urine norcotinine test HP:0410239 rdfs:label nl Positive urine norcotinine test NOT_TRANSLATED +en Positive urine norpropoxyphene test HP:0410290 rdfs:label nl Positive urine norpropoxyphene test NOT_TRANSLATED +en Positive urine opioid test HP:0500113 rdfs:label nl Positive urine opioid test NOT_TRANSLATED +en Post-angioplasty coronary artery restenosis HP:0004761 rdfs:label nl Post-angioplastie restenose van coronairarterie CANDIDATE +en Post-capillary pulmonary hypertension HP:0033635 rdfs:label nl Post-capillary pulmonary hypertension NOT_TRANSLATED +en Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) HP:0033635 IAO:0000115 nl Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units) NOT_TRANSLATED +en Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse HP:0030973 IAO:0000115 nl Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse NOT_TRANSLATED +en Post-partum hemorrhage HP:0011891 rdfs:label nl Post-partum bloeding CANDIDATE +en Post-transfusion thrombocytopenia HP:0004813 rdfs:label nl Post-transfusie trombocytopenie CANDIDATE +en Post-vaccination measles HP:0020088 rdfs:label nl Post-vaccination measles NOT_TRANSLATED +en Post-vaccination polio HP:0020090 rdfs:label nl Post-vaccination polio NOT_TRANSLATED +en Post-vaccination rotavirus infection HP:0020091 rdfs:label nl Post-vaccination rotavirus infection NOT_TRANSLATED +en Post-vaccination rubella HP:0020089 rdfs:label nl Post-vaccination rubella NOT_TRANSLATED +en Post-vaccination yellow fever HP:0034310 rdfs:label nl Post-vaccination yellow fever NOT_TRANSLATED +en Postauricular pit HP:0004464 rdfs:label nl Post-auriculaire pit CANDIDATE +en Postauricular skin tag HP:0004451 rdfs:label nl Postauriculaire skin tag CANDIDATE +en Postaxial foot polydactyly HP:0001830 rdfs:label nl Postaxiale polydactylie van de voet CANDIDATE +en Postaxial hand polydactyly HP:0001162 rdfs:label nl Postaxiale hand polydactylie CANDIDATE +en Postaxial oligodactyly HP:0006210 rdfs:label nl Postaxiale oligodactylie CANDIDATE +en Postaxial polydactyly HP:0100259 rdfs:label nl Postaxiale polydactylie CANDIDATE +en Postaxial polydactyly type A HP:0005696 rdfs:label nl Postaxiale polydactylie type A CANDIDATE +en Postaxial polysyndactyly of foot HP:0005817 rdfs:label nl Postaxiale polysyndactylie van voet CANDIDATE +en Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle HP:0034264 IAO:0000115 nl Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle NOT_TRANSLATED +en Postcoital vaginal bleeding HP:0034264 rdfs:label nl Postcoital vaginal bleeding NOT_TRANSLATED +en Postductal coarctation of the aorta HP:0011647 rdfs:label nl Postductale coarctatie van de aorta CANDIDATE +en Posterior Y-sutural cataract HP:0008031 rdfs:label nl Posterior Y-sutural cataract NOT_TRANSLATED +en Posterior atrophy of corpus callosum HP:0034007 rdfs:label nl Posterior atrophy of corpus callosum NOT_TRANSLATED +en Posterior blepharitis HP:0025610 rdfs:label nl Posterieure blefaritis CANDIDATE +en Posterior capsular cataract HP:0100020 rdfs:label nl Posterieur capsulair cataract CANDIDATE +en Posterior cerebral artery stenosis HP:0012495 rdfs:label nl Arteria cerebri posterior stenose CANDIDATE +en Posterior communicating artery aneurysm HP:0031773 rdfs:label nl Posterior communicating artery aneurysm NOT_TRANSLATED +en Posterior communicating artery infundibulum HP:0031774 rdfs:label nl Posterior communicating artery infundibulum NOT_TRANSLATED +en Posterior corneal stroma punctiform multicolored opacities HP:0034327 rdfs:label nl Posterior corneal stroma punctiform multicolored opacities NOT_TRANSLATED +en Posterior cortical cataract HP:0010924 rdfs:label nl Posterieur corticaal cataract CANDIDATE +en Posterior crocodile shagreen of the cornea HP:0032935 rdfs:label nl Posterior crocodile shagreen of the cornea NOT_TRANSLATED +en Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha HP:0011241 IAO:0000115 nl Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha NOT_TRANSLATED +en Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly HP:0000162 IAO:0000115 nl Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly NOT_TRANSLATED +en Posterior embryotoxon HP:0000627 rdfs:label nl Achterste embryotoxon CANDIDATE +en Posterior fossa cyst HP:0007291 rdfs:label nl Posterieure fossa cyste CANDIDATE +en Posterior fossa cyst at the fourth ventricle HP:0000933 rdfs:label nl Voorste fossa cyste op de vierde ventrikel CANDIDATE +en Posterior fusion of lumbosacral vertebrae HP:0005626 rdfs:label nl Posterieure fusie van lumbosacrale wervels CANDIDATE +en Posterior helix pit HP:0008523 rdfs:label nl Posterieure helix pit CANDIDATE +en Posterior lenticonus HP:0011502 rdfs:label nl Posterieure lenticonus CANDIDATE +en Posterior leukoencephalopathy HP:0006859 rdfs:label nl Posterieure-leuko-encefalopathie CANDIDATE +en Posterior malposition of the anus HP:0012890 IAO:0000115 nl Posterior malposition of the anus NOT_TRANSLATED +en Posterior mediastinal mass HP:0033829 rdfs:label nl Posterior mediastinal mass NOT_TRANSLATED +en Posterior pharyngeal cleft HP:0006783 rdfs:label nl Posterieur gespleten farynx CANDIDATE +en Posterior pituitary agenesis HP:0011756 rdfs:label nl Posterieure hypofyse agenesie CANDIDATE +en Posterior pituitary dysgenesis HP:0011753 rdfs:label nl Posterieure hypofyse dysgenesie CANDIDATE +en Posterior pituitary hypoplasia HP:0011757 rdfs:label nl Posterieure hypofyse hypoplasie CANDIDATE +en Posterior plagiocephaly HP:0011327 rdfs:label nl Posterieure plagiocefalie CANDIDATE +en Posterior polar cataract HP:0001115 rdfs:label nl Posterieur polair cataract CANDIDATE +en Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges HP:0011222 IAO:0000115 nl Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges NOT_TRANSLATED +en Posterior positioning of the nasal root in relation to the overall facial profile for age HP:0005280 IAO:0000115 nl Posterior positioning of the nasal root in relation to the overall facial profile for age NOT_TRANSLATED +en Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle HP:0011800 IAO:0000115 nl Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle NOT_TRANSLATED +en Posterior predominant subcortical band heterotopia HP:0032411 rdfs:label nl Posterior predominant subcortical band heterotopia NOT_TRANSLATED +en Posterior predominant thick cortex pachygyria HP:0020189 rdfs:label nl Posterior predominant thick cortex pachygyria NOT_TRANSLATED +en Posterior radial head dislocation HP:0005798 rdfs:label nl Posterieure radiuskop dislocatie CANDIDATE +en Posterior retinal neovascularization HP:0007778 rdfs:label nl Posterieure retinale neovascularisatie CANDIDATE +en Posterior rib cupping HP:0000922 rdfs:label nl Achterste rib cupping CANDIDATE +en Posterior rib fusion HP:0000913 rdfs:label nl Achterste ribfusie CANDIDATE +en Posterior rib gap HP:0030282 rdfs:label nl Posterior rib gap NOT_TRANSLATED +en Posterior scalloping of vertebral bodies HP:0005121 rdfs:label nl Posterieure uitstulping van wervellichamen CANDIDATE +en Posterior staphyloma HP:0030856 rdfs:label nl Posterieur stafyloom CANDIDATE +en Posterior subcapsular cataract HP:0007787 rdfs:label nl Posterieur subcapsulair cataract CANDIDATE +en Posterior subluxation of radial head HP:0005739 rdfs:label nl Posterieure subluxatie van het radiuskopje CANDIDATE +en Posterior synechiae of the anterior chamber HP:0011484 rdfs:label nl Posterior synechiae of the anterior chamber NOT_TRANSLATED +en Posterior uveitis HP:0012123 rdfs:label nl Posterieure uveïtis CANDIDATE +en Posterior vertebral hypoplasia HP:0008451 rdfs:label nl Posterieure wervel hypoplasie CANDIDATE +en Posterior vitreous detachment HP:0001489 rdfs:label nl Glasvochtloslating CANDIDATE +en Posterior wedging of vertebral bodies HP:0008444 rdfs:label nl Posterior wedging of vertebral bodies NOT_TRANSLATED +en Posteriorly dislocated ulna HP:0003984 rdfs:label nl Naar posterieur gedisloceerde ulna CANDIDATE +en Posteriorly placed anus HP:0012890 rdfs:label nl Posterieur geplaatste anus CANDIDATE +en Posteriorly placed tongue HP:0009087 rdfs:label nl Posterieur geplaatste tong CANDIDATE +en Posteriorly rotated ears HP:0000358 rdfs:label nl Naar achteren gedraaide oren CANDIDATE +en Posterolateral diaphragmatic hernia HP:0025193 rdfs:label nl Postero-laterale hernia diafragmatica CANDIDATE +en Postexertional symptom exacerbation HP:0030973 rdfs:label nl Post-exertionele malaise CANDIDATE +en Postlingual sensorineural hearing impairment HP:0008596 rdfs:label nl Postlinguale perceptief slechthorendheid CANDIDATE +en Postmenopausal bleeding HP:0033840 rdfs:label nl Postmenopausal bleeding NOT_TRANSLATED +en Postnatal cystic hygroma HP:0010879 rdfs:label nl Postnataal cysteus hygroom CANDIDATE +en Postnatal growth retardation HP:0008897 rdfs:label nl Postnatale groeiretardatie CANDIDATE +en Postnatal macrocephaly HP:0005490 rdfs:label nl Postnatale macrocefalie CANDIDATE +en Postnatal-onset ichthyosiform erythroderma HP:0007395 rdfs:label nl Postnatale-onset ichthyosiforme erytrodermie CANDIDATE +en Postprandial fullness HP:0033843 rdfs:label nl Postprandial fullness NOT_TRANSLATED +en Postprandial hyperglycemia HP:0011998 rdfs:label nl Postprandiale hyperglykemie CANDIDATE +en Postprandial hyperlactemia HP:0011997 rdfs:label nl Postprandiale hyperlactemie CANDIDATE +en Postterm pregnancy HP:0031169 rdfs:label nl Post terme zwangerschap CANDIDATE +en Posttraumatic stress symptom HP:0033676 rdfs:label nl Posttraumatic stress symptom NOT_TRANSLATED +en Postural hypotension with compensatory tachycardia HP:0005307 rdfs:label nl Posturale hypotensie met compenserende tachycardie CANDIDATE +en Postural instability HP:0002172 rdfs:label nl Posturale instabiliteit CANDIDATE +en Postural tremor HP:0002174 rdfs:label nl Posturale tremor CANDIDATE +en Potassium-sparing diuretic exposure HP:4000115 rdfs:label nl Potassium-sparing diuretic exposure NOT_TRANSLATED +en Potter facies HP:0002009 rdfs:label nl Potter aangezicht CANDIDATE +en Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency HP:0012671 IAO:0000115 nl Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency NOT_TRANSLATED +en Praxis-induced seizure HP:0020210 rdfs:label nl Praxis-induced seizure NOT_TRANSLATED +en Pre-capillary pulmonary hypertension HP:0033578 rdfs:label nl Pre-capillary pulmonary hypertension NOT_TRANSLATED +en Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) HP:0033578 IAO:0000115 nl Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg) NOT_TRANSLATED +en Preauricular cyst HP:0040297 rdfs:label nl Pre-auriculaire cyste CANDIDATE +en Preauricular hair displacement HP:0009554 rdfs:label nl Projectie van hoofdhaar op de laterale wang CANDIDATE +en Preauricular pit HP:0004467 rdfs:label nl Pre-auriculaire pit CANDIDATE +en Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix HP:0040297 IAO:0000115 nl Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix NOT_TRANSLATED +en Preauricular skin furrow HP:0004450 rdfs:label nl Preauricular skin furrow NOT_TRANSLATED +en Preauricular skin tag HP:0000384 rdfs:label nl Preauriculaire fibroom CANDIDATE +en Preaxial foot polydactyly HP:0001841 rdfs:label nl Preaxiale polydactylie van de voet CANDIDATE +en Preaxial hand polydactyly HP:0001177 rdfs:label nl Pre-axiale hand polydactylie CANDIDATE +en Preaxial polydactyly HP:0100258 rdfs:label nl Pre-axiale polydactylie CANDIDATE +en Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones HP:0008108 IAO:0000115 nl Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED +en Precocious atherosclerosis HP:0004416 rdfs:label nl Premature artherosclerose CANDIDATE +en Precocious costochondral ossification HP:0006607 rdfs:label nl Premature costochondrale ossificatie CANDIDATE +en Precocious puberty HP:0000826 rdfs:label nl Pubertas praecox CANDIDATE +en Precocious puberty in females HP:0010465 rdfs:label nl Pubertas praecox bij vrouwen CANDIDATE +en Precocious puberty in males HP:0008185 rdfs:label nl Pubertas praecox bij mannen CANDIDATE +en Precocious puberty with Sertoli cell tumor HP:0008204 rdfs:label nl Pubertas praecox met Sertoli-cel tumor CANDIDATE +en Precordial pain HP:0032141 rdfs:label nl Precordial pain NOT_TRANSLATED +en Predominant small joint localization HP:0032544 rdfs:label nl Predominant small joint localization NOT_TRANSLATED +en Predominantly dermal neutrophilic infiltrate HP:0031236 rdfs:label nl Overwegend dermaal neutrofiel infiltraat CANDIDATE +en Predominantly epidermal neutrophilic infiltrate HP:0031235 rdfs:label nl Overwegend epidermaal neutrofiel infiltraat CANDIDATE +en Predominantly lower limb lymphedema HP:0003550 rdfs:label nl Lymfeoedeem van met name onderste ledematen CANDIDATE +en Preductal coarctation of the aorta HP:0005151 rdfs:label nl Preductale coarctatie van de aorta CANDIDATE +en Preeclampsia HP:0100602 rdfs:label nl Pre-eclampsie CANDIDATE +en Prefrontal hypometabolism in FDG PET HP:0012659 rdfs:label nl Prefrontaal hypometabolisme op FDG-PET CANDIDATE +en Pregnancy exposure HP:0031437 rdfs:label nl Zwangerschap blootstelling CANDIDATE +en Pregnancy-induced hypertension in association with significant amounts of protein in the urine HP:0100602 IAO:0000115 nl Pregnancy-induced hypertension in association with significant amounts of protein in the urine NOT_TRANSLATED +en Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia HP:0100603 IAO:0000115 nl Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia NOT_TRANSLATED +en Preimplantation lethality HP:0032479 rdfs:label nl Preimplantation lethality NOT_TRANSLATED +en Prelingual sensorineural hearing impairment HP:0000399 rdfs:label nl Prelinguale perceptieve slechthorendheid CANDIDATE +en Premacular hemorrhage HP:0031804 rdfs:label nl Premacular hemorrhage NOT_TRANSLATED +en Premature adrenarche HP:0012412 rdfs:label nl Premature adrenarche CANDIDATE +en Premature anterior fontanel closure HP:0008491 rdfs:label nl Premature voorste fontanel sluiting CANDIDATE +en Premature arteriosclerosis HP:0005177 rdfs:label nl Premature arteriosclerose CANDIDATE +en Premature atrial contractions HP:0006699 rdfs:label nl Premature atriale contracties CANDIDATE +en Premature birth HP:0001622 rdfs:label nl Vroeggeboorte CANDIDATE +en Premature birth following premature rupture of fetal membranes HP:0005100 rdfs:label nl Prematuriteit na prematuur breken van de foetale vliezen CANDIDATE +en Premature chromatid separation HP:0200024 rdfs:label nl Premature scheiding van chromatiden CANDIDATE +en Premature closure of fontanelles HP:0005458 rdfs:label nl Premature sluiting van fontanellen CANDIDATE +en Premature closure of the coronal suture of skull HP:0004440 IAO:0000115 nl Premature closure of the coronal suture of skull NOT_TRANSLATED +en Premature closure of the ductus arteriosus HP:0025675 rdfs:label nl Premature closure of the ductus arteriosus NOT_TRANSLATED +en Premature coronary artery atherosclerosis HP:0005181 rdfs:label nl Premature coronaire atherosclerose CANDIDATE +en Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei HP:0032632 IAO:0000115 nl Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei NOT_TRANSLATED +en Premature delivery because of cervical insufficiency or membrane fragility HP:0005267 rdfs:label nl Vroeggeboorte vanwege cervicale insufficiëntie of membraan kwetsbaarheid CANDIDATE +en Premature development of the breasts HP:0010314 IAO:0000115 nl Premature development of the breasts NOT_TRANSLATED +en Premature ejaculation HP:0012876 rdfs:label nl Premature ejaculatie CANDIDATE +en Premature epimetaphyseal fusion HP:0010588 rdfs:label nl Premature epimetafysaire fusie CANDIDATE +en Premature epimetaphyseal fusion in fibula HP:0012565 rdfs:label nl Premature epimetafysaire fusie in fibula CANDIDATE +en Premature epimetaphyseal fusion in foot HP:0012563 rdfs:label nl Premature epimetafysaire fusie in voet CANDIDATE +en Premature epimetaphyseal fusion in hand HP:0012562 rdfs:label nl Premature epimetafysaire fusie in hand CANDIDATE +en Premature epimetaphyseal fusion in radius HP:0012566 rdfs:label nl Premature epimetafysaire fusie in radius CANDIDATE +en Premature epimetaphyseal fusion in tibia HP:0012564 rdfs:label nl Premature epimetafysaire fusie in tibia CANDIDATE +en Premature epimetaphyseal fusion in ulna HP:0012567 rdfs:label nl Premature epimetaphyseal fusion in ulna CANDIDATE +en Premature eruption of permanent teeth HP:0006337 rdfs:label nl Prematuur doorkomen van permanente tanden CANDIDATE +en Premature fusion of phalangeal epiphyses HP:0006140 rdfs:label nl Prematuur fusie van falangeale epifysen CANDIDATE +en Premature fusion of the metopic suture HP:0011330 IAO:0000115 nl Premature fusion of the metopic suture NOT_TRANSLATED +en Premature fusion of the radial epiphyseal plates HP:0004012 rdfs:label nl Prematuur fusie van de epifysaire platen van de radius CANDIDATE +en Premature graying of body hair HP:0004771 rdfs:label nl Prematuur grijs worden van het lichaamshaar CANDIDATE +en Premature graying of hair HP:0002216 rdfs:label nl Prematuur grijs worden van het haar CANDIDATE +en Premature loss of permanent teeth HP:0006357 rdfs:label nl Prematuur verlies van permanente tanden CANDIDATE +en Premature loss of primary teeth HP:0006323 rdfs:label nl Premature verlies van primaire tanden CANDIDATE +en Premature loss of teeth HP:0006480 rdfs:label nl Premature verlies van tanden CANDIDATE +en Premature loss of the permanent teeth HP:0006357 IAO:0000115 nl Premature loss of the permanent teeth NOT_TRANSLATED +en Premature occlusive vascular stenosis HP:0005297 rdfs:label nl Premature occlusieve vasculaire stenose CANDIDATE +en Premature osteoarthritis HP:0003088 rdfs:label nl Premature osteoarthritis CANDIDATE +en Premature ovarian insufficiency HP:0008209 rdfs:label nl Premature ovariële insufficiëntie CANDIDATE +en Premature posterior fontanelle closure HP:0005494 rdfs:label nl Premature posterieure fontanel sluiting CANDIDATE +en Premature pubarche HP:0012411 rdfs:label nl Premature pubarche CANDIDATE +en Premature rupture of membranes HP:0001788 rdfs:label nl Prematuur breken van de vliezen CANDIDATE +en Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor HP:0001788 IAO:0000115 nl Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor NOT_TRANSLATED +en Premature sagging cheeks HP:0034273 rdfs:label nl Premature sagging cheeks NOT_TRANSLATED +en Premature separation of centromeric heterochromatin HP:0003616 rdfs:label nl Premature separatie van centromerisch heterochromatine CANDIDATE +en Premature skin wrinkling HP:0100678 rdfs:label nl Premature huid rimpeling CANDIDATE +en Premature sternal synostosis HP:0006590 rdfs:label nl Premature sternale synostose CANDIDATE +en Premature synostosis of both lambdoid sutures HP:0011319 IAO:0000115 nl Premature synostosis of both lambdoid sutures NOT_TRANSLATED +en Premature synostosis of only one lambdoid suture HP:0011320 IAO:0000115 nl Premature synostosis of only one lambdoid suture NOT_TRANSLATED +en Premature synostosis of only the left lambdoid suture HP:0011321 IAO:0000115 nl Premature synostosis of only the left lambdoid suture NOT_TRANSLATED +en Premature synostosis of only the right lambdoid suture HP:0011322 IAO:0000115 nl Premature synostosis of only the right lambdoid suture NOT_TRANSLATED +en Premature thelarche HP:0010314 rdfs:label nl Premature thelarche CANDIDATE +en Premature tooth eruption of the permanent dentition HP:0006337 IAO:0000115 nl Premature tooth eruption of the permanent dentition NOT_TRANSLATED +en Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age HP:0006288 IAO:0000115 nl Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age NOT_TRANSLATED +en Premature ventricular contraction HP:0006682 rdfs:label nl Ventriculaire extrasystoles CANDIDATE +en Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node HP:0006682 IAO:0000115 nl Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node NOT_TRANSLATED +en Prematurely aged appearance HP:0007495 rdfs:label nl Prematuur oud uiterlijk CANDIDATE +en Prematurely closed sternal sutures HP:0006590 IAO:0000115 nl Prematurely closed sternal sutures NOT_TRANSLATED +en Prenatal death HP:0034241 rdfs:label nl Prenatal death NOT_TRANSLATED +en Prenatal double bubble sign HP:0025656 rdfs:label nl Prenatal double bubble sign NOT_TRANSLATED +en Prenatal maternal abnormality HP:0002686 rdfs:label nl Prenatale maternale afwijking CANDIDATE +en Prenatal movement abnormality HP:0001557 rdfs:label nl Prenatale bewegingsabnormaliteit CANDIDATE +en Preretinal hemorrhage HP:0025240 rdfs:label nl Preretinale bloeding CANDIDATE +en Presacral ganglioneuroma HP:0031455 rdfs:label nl Presacraal ganglioneuroom CANDIDATE +en Presacral teratoma HP:0009793 rdfs:label nl Presacraal teratoom CANDIDATE +en Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy HP:0031539 IAO:0000115 nl Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy NOT_TRANSLATED +en Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome HP:0034156 IAO:0000115 nl Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome NOT_TRANSLATED +en Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy HP:0031540 IAO:0000115 nl Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy NOT_TRANSLATED +en Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome HP:0034157 IAO:0000115 nl Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome NOT_TRANSLATED +en Presence of a bifid sacral bone HP:0009791 IAO:0000115 nl Presence of a bifid sacral bone NOT_TRANSLATED +en Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids HP:0031838 IAO:0000115 nl Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids NOT_TRANSLATED +en Presence of a cutaneous lipoma on the forehead HP:0007541 IAO:0000115 nl Presence of a cutaneous lipoma on the forehead NOT_TRANSLATED +en Presence of a cutaneous membrane (flap) in the armpit HP:0001060 IAO:0000115 nl Presence of a cutaneous membrane (flap) in the armpit NOT_TRANSLATED +en Presence of a cyst (sac-like structure) located in the larynx HP:0100640 IAO:0000115 nl Presence of a cyst (sac-like structure) located in the larynx NOT_TRANSLATED +en Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium) HP:0001144 IAO:0000115 nl Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium) NOT_TRANSLATED +en Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus HP:0008751 IAO:0000115 nl Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus NOT_TRANSLATED +en Presence of a lipoma in the region of the sacrum HP:0012033 IAO:0000115 nl Presence of a lipoma in the region of the sacrum NOT_TRANSLATED +en Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes HP:0032994 IAO:0000115 nl Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes NOT_TRANSLATED +en Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder HP:0012619 IAO:0000115 nl Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder NOT_TRANSLATED +en Presence of a monoclonal immunoglobulin M protein in the serum HP:0005508 IAO:0000115 nl Presence of a monoclonal immunoglobulin M protein in the serum NOT_TRANSLATED +en Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone HP:0032577 IAO:0000115 nl Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone NOT_TRANSLATED +en Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection HP:0031035 IAO:0000115 nl Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection NOT_TRANSLATED +en Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue HP:0030170 IAO:0000115 nl Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue NOT_TRANSLATED +en Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder HP:0008691 IAO:0000115 nl Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder NOT_TRANSLATED +en Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium HP:0002563 IAO:0000115 nl Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium NOT_TRANSLATED +en Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle HP:0012845 IAO:0000115 nl Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED +en Presence of a xenobiotic in gastric fluid HP:0500101 IAO:0000115 nl Presence of a xenobiotic in gastric fluid NOT_TRANSLATED +en Presence of a xenobiotic in meconium HP:0500098 IAO:0000115 nl Presence of a xenobiotic in meconium NOT_TRANSLATED +en Presence of a xenobiotic in plasma and/or serum HP:0500100 IAO:0000115 nl Presence of a xenobiotic in plasma and/or serum NOT_TRANSLATED +en Presence of abnormal additional layers of the basement membrane of the glomerulus HP:0030034 IAO:0000115 nl Presence of abnormal additional layers of the basement membrane of the glomerulus NOT_TRANSLATED +en Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer HP:0030075 IAO:0000115 nl Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer NOT_TRANSLATED +en Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates HP:0004625 IAO:0000115 nl Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates NOT_TRANSLATED +en Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions HP:0003805 IAO:0000115 nl Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions NOT_TRANSLATED +en Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils HP:0032022 IAO:0000115 nl Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils NOT_TRANSLATED +en Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue HP:0100317 IAO:0000115 nl Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue NOT_TRANSLATED +en Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean HP:0011266 IAO:0000115 nl Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean NOT_TRANSLATED +en Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis HP:0032146 IAO:0000115 nl Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis NOT_TRANSLATED +en Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography HP:0045047 IAO:0000115 nl Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography NOT_TRANSLATED +en Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger HP:0006206 IAO:0000115 nl Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger NOT_TRANSLATED +en Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger HP:0011929 IAO:0000115 nl Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger NOT_TRANSLATED +en Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger) HP:0005900 IAO:0000115 nl Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger) NOT_TRANSLATED +en Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs HP:0012552 IAO:0000115 nl Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs NOT_TRANSLATED +en Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue HP:0031317 IAO:0000115 nl Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue NOT_TRANSLATED +en Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots HP:0001003 IAO:0000115 nl Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots NOT_TRANSLATED +en Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS) HP:0032376 IAO:0000115 nl Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS) NOT_TRANSLATED +en Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein HP:0032492 IAO:0000115 nl Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein NOT_TRANSLATED +en Presence of arachnoid cysts of the spinal canal extradurally in the epidural space HP:0009745 IAO:0000115 nl Presence of arachnoid cysts of the spinal canal extradurally in the epidural space NOT_TRANSLATED +en Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation HP:0032469 IAO:0000115 nl Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation NOT_TRANSLATED +en Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results HP:0034429 IAO:0000115 nl Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results NOT_TRANSLATED +en Presence of biliary veins that serve as a collateral channel to the systemic circulation HP:0025154 IAO:0000115 nl Presence of biliary veins that serve as a collateral channel to the systemic circulation NOT_TRANSLATED +en Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy HP:0031541 IAO:0000115 nl Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy NOT_TRANSLATED +en Presence of conjugated bilirubin in the urine HP:0031811 IAO:0000115 nl Presence of conjugated bilirubin in the urine NOT_TRANSLATED +en Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis HP:0000090 IAO:0000115 nl Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis NOT_TRANSLATED +en Presence of elevated levels of ketone bodies in the body HP:0001946 IAO:0000115 nl Presence of elevated levels of ketone bodies in the body NOT_TRANSLATED +en Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine HP:0012617 IAO:0000115 nl Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine NOT_TRANSLATED +en Presence of excess fibrous connective tissue surrounding hair follicules HP:0030054 IAO:0000115 nl Presence of excess fibrous connective tissue surrounding hair follicules NOT_TRANSLATED +en Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea HP:0012039 IAO:0000115 nl Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea NOT_TRANSLATED +en Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum HP:0034404 IAO:0000115 nl Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum NOT_TRANSLATED +en Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules HP:0032606 IAO:0000115 nl Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules NOT_TRANSLATED +en Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts HP:0033378 IAO:0000115 nl Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts NOT_TRANSLATED +en Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs) HP:0033377 IAO:0000115 nl Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs) NOT_TRANSLATED +en Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei) HP:0032645 IAO:0000115 nl Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei) NOT_TRANSLATED +en Presence of iris pigment epithelium on the anterior surface of the iris HP:0025358 IAO:0000115 nl Presence of iris pigment epithelium on the anterior surface of the iris NOT_TRANSLATED +en Presence of irregular redundant loops of focally folded myelin in a peripheral nerve HP:0007208 IAO:0000115 nl Presence of irregular redundant loops of focally folded myelin in a peripheral nerve NOT_TRANSLATED +en Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine HP:0012616 IAO:0000115 nl Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine NOT_TRANSLATED +en Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space HP:0033490 IAO:0000115 nl Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space NOT_TRANSLATED +en Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces HP:0025343 IAO:0000115 nl Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces NOT_TRANSLATED +en Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage HP:0003872 IAO:0000115 nl Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage NOT_TRANSLATED +en Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage HP:0002762 IAO:0000115 nl Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage NOT_TRANSLATED +en Presence of more than two nipples HP:0002558 IAO:0000115 nl Presence of more than two nipples NOT_TRANSLATED +en Presence of multiple adenomatous polyps in the colon HP:0005227 IAO:0000115 nl Presence of multiple adenomatous polyps in the colon NOT_TRANSLATED +en Presence of multiple cystic changes in multiple areas or multiple bones HP:0012065 IAO:0000115 nl Presence of multiple cystic changes in multiple areas or multiple bones NOT_TRANSLATED +en Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva HP:0007721 IAO:0000115 nl Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva NOT_TRANSLATED +en Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation HP:0012183 IAO:0000115 nl Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation NOT_TRANSLATED +en Presence of multiple polyps in the duodenum HP:0004783 IAO:0000115 nl Presence of multiple polyps in the duodenum NOT_TRANSLATED +en Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin HP:0001056 IAO:0000115 nl Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin NOT_TRANSLATED +en Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle HP:0012846 IAO:0000115 nl Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle NOT_TRANSLATED +en Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions HP:0012045 IAO:0000115 nl Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions NOT_TRANSLATED +en Presence of myoglobin in the urine HP:0002913 IAO:0000115 nl Presence of myoglobin in the urine NOT_TRANSLATED +en Presence of myoglobin in the urine following exercise HP:0008305 IAO:0000115 nl Presence of myoglobin in the urine following exercise NOT_TRANSLATED +en Presence of nitrites in the urine HP:0031812 IAO:0000115 nl Presence of nitrites in the urine NOT_TRANSLATED +en Presence of nodules in the conjunctiva of the eye HP:0009903 IAO:0000115 nl Presence of nodules in the conjunctiva of the eye NOT_TRANSLATED +en Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing HP:0033331 IAO:0000115 nl Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing NOT_TRANSLATED +en Presence of only 10 (instead of the usual 12) pairs of ribs HP:0030300 IAO:0000115 nl Presence of only 10 (instead of the usual 12) pairs of ribs NOT_TRANSLATED +en Presence of only 11 pairs of ribs HP:0000878 IAO:0000115 nl Presence of only 11 pairs of ribs NOT_TRANSLATED +en Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger HP:0006216 IAO:0000115 nl Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger NOT_TRANSLATED +en Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it) HP:0011795 IAO:0000115 nl Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it) NOT_TRANSLATED +en Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood HP:0008643 IAO:0000115 nl Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood NOT_TRANSLATED +en Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber HP:0031615 IAO:0000115 nl Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber NOT_TRANSLATED +en Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry HP:0011878 IAO:0000115 nl Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry NOT_TRANSLATED +en Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina HP:0033396 IAO:0000115 nl Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina NOT_TRANSLATED +en Presence of saccharopine in the urine HP:0034028 IAO:0000115 nl Presence of saccharopine in the urine NOT_TRANSLATED +en Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions HP:0100585 IAO:0000115 nl Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions NOT_TRANSLATED +en Presence of some auricular structures, but none of these structures conform to recognized ear components HP:0011267 IAO:0000115 nl Presence of some auricular structures, but none of these structures conform to recognized ear components NOT_TRANSLATED +en Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones) HP:0030035 IAO:0000115 nl Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones) NOT_TRANSLATED +en Presence of teardrop-shaped red blood cells HP:0032563 IAO:0000115 nl Presence of teardrop-shaped red blood cells NOT_TRANSLATED +en Presence of telangiectases in the oral cavity HP:0000228 IAO:0000115 nl Presence of telangiectases in the oral cavity NOT_TRANSLATED +en Presence of the Duffy Fya antigen HP:0032374 IAO:0000115 nl Presence of the Duffy Fya antigen NOT_TRANSLATED +en Presence of the Duffy Fyb antigen HP:0032375 IAO:0000115 nl Presence of the Duffy Fyb antigen NOT_TRANSLATED +en Presence of thickening of the interlobular septa of the lungs as seen on a CT scan HP:0030879 IAO:0000115 nl Presence of thickening of the interlobular septa of the lungs as seen on a CT scan NOT_TRANSLATED +en Presence of viable bacteria in the blood HP:0031864 IAO:0000115 nl Presence of viable bacteria in the blood NOT_TRANSLATED +en Presence of xenobiotic HP:0031838 rdfs:label nl Presence of xenobiotic NOT_TRANSLATED +en Presence of xenobiotic in hair HP:0500099 IAO:0000115 nl Presence of xenobiotic in hair NOT_TRANSLATED +en Presence of xenobiotic in stool HP:0500097 IAO:0000115 nl Presence of xenobiotic in stool NOT_TRANSLATED +en Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual HP:0007819 IAO:0000115 nl Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual NOT_TRANSLATED +en Presenile cataracts HP:0007819 rdfs:label nl Preseniele cataract CANDIDATE +en Present in 0% of the cases HP:0040285 IAO:0000115 nl Present in 0% of the cases NOT_TRANSLATED +en Present in 1% to 4% of the cases HP:0040284 IAO:0000115 nl Present in 1% to 4% of the cases NOT_TRANSLATED +en Present in 30% to 79% of the cases HP:0040282 IAO:0000115 nl Present in 30% to 79% of the cases NOT_TRANSLATED +en Present in 5% to 29% of the cases HP:0040283 IAO:0000115 nl Present in 5% to 29% of the cases NOT_TRANSLATED +en Present in 80% to 99% of the cases HP:0040281 IAO:0000115 nl Present in 80% to 99% of the cases NOT_TRANSLATED +en Pressure ulcer HP:0012399 rdfs:label nl Drukulcus CANDIDATE +en Presyncope HP:0031972 rdfs:label nl Presyncope NOT_TRANSLATED +en Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause HP:0031972 IAO:0000115 nl Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause NOT_TRANSLATED +en Preterm intraventricular hemorrhage HP:0030747 rdfs:label nl Premature intraventriculaire bloeding CANDIDATE +en Pretesticular azoospermia HP:0011963 rdfs:label nl Pre-testiculaire azoospermie CANDIDATE +en Pretibial blistering HP:0012221 rdfs:label nl Pretibiale blaarvorming CANDIDATE +en Pretibial dimple HP:0032538 rdfs:label nl Pretibial dimple NOT_TRANSLATED +en Pretibial hyperpigmentation HP:0034517 rdfs:label nl Pretibial hyperpigmentation NOT_TRANSLATED +en Pretibial myxedema HP:0200028 rdfs:label nl Pretibiaal myxoedeem CANDIDATE +en Pretragal ectopia HP:0030024 rdfs:label nl Pretragal ectopia NOT_TRANSLATED +en Priapism HP:0200023 rdfs:label nl Priapisme CANDIDATE +en Primary Caesarian section HP:0030363 rdfs:label nl Primaire sectio caesarea CANDIDATE +en Primary adrenal insufficiency HP:0008207 rdfs:label nl Primaire bijnier insufficiëntie CANDIDATE +en Primary amenorrhea HP:0000786 rdfs:label nl Primaire amenorroe CANDIDATE +en Primary central nervous system lymphoma HP:0030069 rdfs:label nl Primair centraal zenuwstelsel lymfoom CANDIDATE +en Primary congenital glaucoma HP:0008007 rdfs:label nl Primair congenitaal glaucoom CANDIDATE +en Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods HP:0500093 IAO:0000115 nl Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods NOT_TRANSLATED +en Primary gonadal insufficiency HP:0008193 rdfs:label nl Primaire gonadale insufficiëntie CANDIDATE +en Primary hyperaldosteronism HP:0011736 rdfs:label nl Primair hyperaldosteronisme CANDIDATE +en Primary hypercortisolism HP:0001579 rdfs:label nl Primair hypercorticolisme CANDIDATE +en Primary hyperparathyroidism HP:0008200 rdfs:label nl Primaire hyperparathyreoïdie CANDIDATE +en Primary hypothyroidism HP:0000832 rdfs:label nl Primaire hypothyreoïdisme CANDIDATE +en Primary microcephaly HP:0011451 rdfs:label nl Congenitale microcefalie CANDIDATE +en Primary obstructive megaureter HP:4000035 rdfs:label nl Primary obstructive megaureter NOT_TRANSLATED +en Primary peritoneal carcinoma HP:0030406 rdfs:label nl Primair peritoneaal carcinoom CANDIDATE +en Primary testicular failure HP:0008720 rdfs:label nl Primair testiculair falen CANDIDATE +en Primary vesicoureteral reflux HP:0033738 rdfs:label nl Primary vesicoureteral reflux NOT_TRANSLATED +en Primitive neuroectodermal tumor HP:0030065 rdfs:label nl Primitieve neuroectodermale tumor CANDIDATE +en Primitive reflex HP:0002476 rdfs:label nl Primitieve reflex CANDIDATE +en Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes HP:0000743 IAO:0000115 nl Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes NOT_TRANSLATED +en Primum atrial septal defect HP:0010445 rdfs:label nl Primum atriumseptumdefect CANDIDATE +en Proboscis HP:0012806 rdfs:label nl Proboscis CANDIDATE +en Probst bundles HP:0034054 rdfs:label nl Probst bundles NOT_TRANSLATED +en Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles HP:0034054 IAO:0000115 nl Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles NOT_TRANSLATED +en Procedural memory loss HP:0033691 rdfs:label nl Procedural memory loss NOT_TRANSLATED +en Production of facial expressions that are misaligned with the social context HP:4000088 IAO:0000115 nl Production of facial expressions that are misaligned with the social context NOT_TRANSLATED +en Productive cough HP:0031245 rdfs:label nl Productieve hoest CANDIDATE +en Profound HP:0012829 rdfs:label nl Diepgaand CANDIDATE +en Profound global developmental delay HP:0012736 rdfs:label nl Verregaande globale vertraging in de ontwikkeling CANDIDATE +en Profound hearing impairment HP:0012715 rdfs:label nl Verregaande slechthorendheid CANDIDATE +en Profound mental retardation is defined as an intelligence quotient (IQ) below 20 HP:0002187 IAO:0000115 nl Profound mental retardation is defined as an intelligence quotient (IQ) below 20 NOT_TRANSLATED +en Profound sensorineural hearing impairment HP:0011476 rdfs:label nl Ernstige perceptieve slechthorendheid CANDIDATE +en Profound static encephalopathy HP:0007069 rdfs:label nl Diepe statische encefalopathie CANDIDATE +en Profuse pigmented skin lesions HP:0005587 rdfs:label nl Overvloedig gepigmenteerde huid laesies CANDIDATE +en Progeroid facial appearance HP:0005328 rdfs:label nl Progeroïd faciaal voorkomen CANDIDATE +en Progressive HP:0003676 rdfs:label nl Progressief CANDIDATE +en Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals) HP:0011707 IAO:0000115 nl Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals) NOT_TRANSLATED +en Progressive alopecia HP:0002287 rdfs:label nl Progressieve alopecia CANDIDATE +en Progressive alveolar ridge hypertropy HP:0009092 rdfs:label nl Progressive alveolar ridge hypertropy NOT_TRANSLATED +en Progressive bending or abnormal curvature of a long bone HP:0006383 IAO:0000115 nl Progressive bending or abnormal curvature of a long bone NOT_TRANSLATED +en Progressive bending or abnormal curvature of the forearm skeleton HP:0005891 IAO:0000115 nl Progressive bending or abnormal curvature of the forearm skeleton NOT_TRANSLATED +en Progressive bending or abnormal curvature of the leg HP:0006409 IAO:0000115 nl Progressive bending or abnormal curvature of the leg NOT_TRANSLATED +en Progressive bone resorption in the distal part of the clavicle HP:0000905 IAO:0000115 nl Progressive bone resorption in the distal part of the clavicle NOT_TRANSLATED +en Progressive bowing of long bones HP:0006383 rdfs:label nl Progressieve bowing van lange beenderen CANDIDATE +en Progressive calcification of costochondral cartilage HP:0006600 rdfs:label nl Progressieve calcificatie van costochondraal kraakbreen CANDIDATE +en Progressive cataract HP:0007834 rdfs:label nl Progressief cataract CANDIDATE +en Progressive cerebellar ataxia HP:0002073 rdfs:label nl Progressieve cerebellaire ataxie CANDIDATE +en Progressive cervical vertebral spine fusion HP:0008449 rdfs:label nl Progressieve cervicale wervelkolomfusie CANDIDATE +en Progressive choreoathetosis HP:0007326 rdfs:label nl Progressieve choreoathetose CANDIDATE +en Progressive clavicular acroosteolysis HP:0000905 rdfs:label nl Progressieve claviculaire acro-osteolyse CANDIDATE +en Progressive conductive hearing impairment HP:0008607 rdfs:label nl Progressieve conductieve slechthorendheid CANDIDATE +en Progressive congenital scoliosis HP:0008458 rdfs:label nl Progressieve congenitale scoliose CANDIDATE +en Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease HP:0002613 IAO:0000115 nl Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease NOT_TRANSLATED +en Progressive deterioration of peripheral axons HP:0000764 IAO:0000115 nl Progressive deterioration of peripheral axons NOT_TRANSLATED +en Progressive distal muscle weakness HP:0009063 rdfs:label nl Progressieve distale spierzwakte CANDIDATE +en Progressive distal muscular atrophy HP:0008955 rdfs:label nl Progressieve distale musculaire atrofie CANDIDATE +en Progressive encephalopathy HP:0002448 rdfs:label nl Progressieve encefalopathie CANDIDATE +en Progressive external ophthalmoplegia HP:0000590 rdfs:label nl Progressieve externe oftalmoplegie CANDIDATE +en Progressive extrapyramidal movement disorder HP:0007153 rdfs:label nl Progressieve extrapiramidale bewegingsstoornis CANDIDATE +en Progressive extrapyramidal muscular rigidity HP:0007158 rdfs:label nl Progressieve extrapiramidale musculaire rigiditeit CANDIDATE +en Progressive flexion contractures HP:0005876 rdfs:label nl Progressieve flexie contracturen CANDIDATE +en Progressive forearm bowing HP:0005891 rdfs:label nl Progressieve bowing van onderarm CANDIDATE +en Progressive forgetfulness HP:0007017 rdfs:label nl Progressieve vergeetachtigheid CANDIDATE +en Progressive fusion 2nd-5th pip joints HP:0006147 rdfs:label nl Progressieve fusiie 2e-5e pip gewrichten CANDIDATE +en Progressive gait ataxia HP:0007240 rdfs:label nl Progressieve gang ataxie CANDIDATE +en Progressive hearing impairment HP:0001730 rdfs:label nl Progressieve slechthorendheid CANDIDATE +en Progressive hyperpigmentation HP:0007505 rdfs:label nl Progressieve hyperpigmentatie CANDIDATE +en Progressive hypotrichosis HP:0002296 rdfs:label nl Progressieve hypotrichosis CANDIDATE +en Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg HP:0007002 IAO:0000115 nl Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg NOT_TRANSLATED +en Progressive inspiratory stridor HP:0005951 rdfs:label nl Progressieve inspiratoire stridor CANDIDATE +en Progressive intervertebral space narrowing HP:0004622 rdfs:label nl Progressieve versmalling van intervertebrale ruimte CANDIDATE +en Progressive joint destruction HP:0005187 rdfs:label nl Progressieve gewrichtsdestructie CANDIDATE +en Progressive language deterioration HP:0007064 rdfs:label nl Progressieve taal achteruitgang CANDIDATE +en Progressive leg bowing HP:0006409 rdfs:label nl Progressieve bowing van been CANDIDATE +en Progressive leukoencephalopathy HP:0006980 rdfs:label nl Progressieve leuko-encefalopathie CANDIDATE +en Progressive loss of facial adipose tissue HP:0009019 rdfs:label nl Progressief verlies van faciaal vetweefsel CANDIDATE +en Progressive loss of hair HP:0002287 IAO:0000115 nl Progressive loss of hair NOT_TRANSLATED +en Progressive loss of neural cells and tissue HP:0002180 IAO:0000115 nl Progressive loss of neural cells and tissue NOT_TRANSLATED +en Progressive loss of previously present language abilities HP:0007064 IAO:0000115 nl Progressive loss of previously present language abilities NOT_TRANSLATED +en Progressive macrocephaly HP:0004481 rdfs:label nl Progressieve macrocefalie CANDIDATE +en Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation HP:0011504 IAO:0000115 nl Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation NOT_TRANSLATED +en Progressive massive fibrosis HP:0033706 rdfs:label nl Progressive massive fibrosis NOT_TRANSLATED +en Progressive microcephaly HP:0000253 rdfs:label nl Progressieve microcefalie CANDIDATE +en Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms HP:0000253 IAO:0000115 nl Progressieve microcefalie wordt gediagnostiseerd als de schedelomtrek achterblijft bij de leeftijd en geslacht afhankelijke normen CANDIDATE +en Progressive muscle weakness HP:0003323 rdfs:label nl Progressieve spierzwakte CANDIDATE +en Progressive muscular atrophy affecting muscles in the distal portions of the extremities HP:0008955 IAO:0000115 nl Progressive muscular atrophy affecting muscles in the distal portions of the extremities NOT_TRANSLATED +en Progressive neurologic deterioration HP:0002344 rdfs:label nl Progressieve neurologische achteruitgang CANDIDATE +en Progressive night blindness HP:0007675 rdfs:label nl Progressieve nachtblindheid CANDIDATE +en Progressive ophthalmoplegia HP:0007650 rdfs:label nl Progressieve oftalmoplegie CANDIDATE +en Progressive peripheral neuropathy HP:0007133 rdfs:label nl Progressieve perifere neuropathie CANDIDATE +en Progressive pes cavus HP:0008075 rdfs:label nl Progressieve pes cavus CANDIDATE +en Progressive proximal muscle weakness HP:0009073 rdfs:label nl Progressieve proximale spierzwakte CANDIDATE +en Progressive psychomotor deterioration HP:0007272 rdfs:label nl Progressieve psychomotorische achteruitgang CANDIDATE +en Progressive ptosis HP:0007838 rdfs:label nl Progressieve ptosis CANDIDATE +en Progressive pulmonary function impairment HP:0006520 rdfs:label nl Progressieve pulmonale functie vermindering CANDIDATE +en Progressive reticulate hyperpigmentation HP:0007456 rdfs:label nl Progressieve reticulaire hyperpigmentatie CANDIDATE +en Progressive sclerosis of skull base HP:0005477 rdfs:label nl Progressieve sclerose van schedelbasis CANDIDATE +en Progressive sensorineural hearing impairment HP:0000408 rdfs:label nl Progressieve perceptieve slechthorendheid CANDIDATE +en Progressive spastic paraparesis HP:0007199 rdfs:label nl Progressieve spastische paraparese CANDIDATE +en Progressive spastic paraplegia HP:0007020 rdfs:label nl Progressieve spastische paraplegie CANDIDATE +en Progressive spastic quadriplegia HP:0002478 rdfs:label nl Progressieve spastische quadriplegie CANDIDATE +en Progressive spasticity HP:0002191 rdfs:label nl Progressieve spasticiteit CANDIDATE +en Progressive spinal muscular atrophy HP:0009067 rdfs:label nl Progressieve spinale musculaire atrofie CANDIDATE +en Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem HP:0009067 IAO:0000115 nl Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem NOT_TRANSLATED +en Progressive truncal ataxia HP:0007221 rdfs:label nl Progressieve truncale ataxie CANDIDATE +en Progressive ventriculomegaly HP:0007100 rdfs:label nl Progressieve ventriculomegalie CANDIDATE +en Progressive visual field defects HP:0007987 rdfs:label nl Pogressieve gezichtsveld defecten CANDIDATE +en Progressive visual loss HP:0000529 rdfs:label nl Pogressief gezichtsverlies CANDIDATE +en Progressive vitiligo HP:0005602 rdfs:label nl Progressieve vitiligo CANDIDATE +en Progressively increasing bone density of the skull base without significant changes in bony contour HP:0005477 IAO:0000115 nl Progressively increasing bone density of the skull base without significant changes in bony contour NOT_TRANSLATED +en Progressively reduced or lacking hair growth HP:0002296 IAO:0000115 nl Progressively reduced or lacking hair growth NOT_TRANSLATED +en Progressively reduced strength of the distal musculature HP:0009063 IAO:0000115 nl Progressively reduced strength of the distal musculature NOT_TRANSLATED +en Progressively worsening joint contractures HP:0005876 IAO:0000115 nl Progressively worsening joint contractures NOT_TRANSLATED +en Projectile vomiting HP:0002587 rdfs:label nl Projectielbraken CANDIDATE +en Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama) HP:0012366 IAO:0000115 nl Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama) NOT_TRANSLATED +en Prolactinoma HP:0040278 rdfs:label nl Prolactinoom CANDIDATE +en Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential HP:0005547 IAO:0000115 nl Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential NOT_TRANSLATED +en Proliferation of astrocytes in the area of a lesion of the central nervous system HP:0002446 IAO:0000115 nl Proliferation of astrocytes in the area of a lesion of the central nervous system NOT_TRANSLATED +en Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney HP:0033903 IAO:0000115 nl Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney NOT_TRANSLATED +en Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney HP:0033954 IAO:0000115 nl Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney NOT_TRANSLATED +en Proliferative changes of the bile ducts HP:0001408 IAO:0000115 nl Proliferative changes of the bile ducts NOT_TRANSLATED +en Prolinuria HP:0003137 rdfs:label nl Hyperprolinemie CANDIDATE +en Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding HP:0003010 IAO:0000115 nl Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding NOT_TRANSLATED +en Prolonged HP:0025297 rdfs:label nl Verlengd CANDIDATE +en Prolonged G2 phase of cell cycle HP:0003214 rdfs:label nl Verlengde G2-fase van de celcyclus CANDIDATE +en Prolonged P wave HP:0034308 rdfs:label nl Prolonged P wave NOT_TRANSLATED +en Prolonged PR interval HP:0012248 rdfs:label nl Verlengd PR-interval CANDIDATE +en Prolonged QRS complex HP:0006677 rdfs:label nl Verlengd QRS complex CANDIDATE +en Prolonged QT interval HP:0001657 rdfs:label nl Verlengd QT-interval CANDIDATE +en Prolonged QTc interval HP:0005184 rdfs:label nl Verlengd QTc-interval CANDIDATE +en Prolonged Russell's viper venom time HP:0040244 rdfs:label nl Prolonged Russell's viper venom time NOT_TRANSLATED +en Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days HP:0000132 IAO:0000115 nl Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days NOT_TRANSLATED +en Prolonged bleeding after dental extraction HP:0006298 rdfs:label nl Langdurig bloeden na tandheelkundige extractie CANDIDATE +en Prolonged bleeding after surgery HP:0004846 rdfs:label nl Langdurig bloeden na chirurgie CANDIDATE +en Prolonged bleeding following circumcision HP:0030137 rdfs:label nl Langdurig bloeden na besnijdenis CANDIDATE +en Prolonged bleeding following procedure HP:0011890 rdfs:label nl Langdurig bloeden na ingreep CANDIDATE +en Prolonged bleeding post dental extraction sufficient to require medical intervention HP:0006298 IAO:0000115 nl Prolonged bleeding post dental extraction sufficient to require medical intervention NOT_TRANSLATED +en Prolonged bleeding time HP:0003010 rdfs:label nl Verlengde bloedingstijd CANDIDATE +en Prolonged brainstem auditory evoked potentials HP:0004466 rdfs:label nl Prolonged brainstem auditory evoked potentials NOT_TRANSLATED +en Prolonged central motor conduction time HP:0034399 rdfs:label nl Prolonged central motor conduction time NOT_TRANSLATED +en Prolonged euglobulin clot lysis time HP:0040243 rdfs:label nl Prolonged euglobulin clot lysis time NOT_TRANSLATED +en Prolonged miniature endplate currents HP:0003436 rdfs:label nl Prolonged miniature endplate currents NOT_TRANSLATED +en Prolonged need of intravenous antibiotic therapy HP:0020095 rdfs:label nl Prolonged need of intravenous antibiotic therapy NOT_TRANSLATED +en Prolonged neonatal jaundice HP:0006579 rdfs:label nl Verlengde neonatale icterus CANDIDATE +en Prolonged or protracted bleeding following an invasive procedure or intervention HP:0011890 IAO:0000115 nl Prolonged or protracted bleeding following an invasive procedure or intervention NOT_TRANSLATED +en Prolonged partial thromboplastin time HP:0003645 rdfs:label nl Verlenge partiële tromboplastinetijd CANDIDATE +en Prolonged prothrombin time HP:0008151 rdfs:label nl Verlengde protrombine tijd CANDIDATE +en Prolonged reptilase time HP:0020193 rdfs:label nl Prolonged reptilase time NOT_TRANSLATED +en Prolonged somatosensory evoked potentials HP:0007104 rdfs:label nl Verlengde somatosensorische opgewekte potentialen CANDIDATE +en Prolonged whole-blood clotting time HP:0005542 rdfs:label nl Verlengde gehele-bloed stollingstijd CANDIDATE +en Prolonged/excessive menses and bleeding at irregular intervals HP:0400008 IAO:0000115 nl Prolonged/excessive menses and bleeding at irregular intervals NOT_TRANSLATED +en Prominence of a triangular soft tissue area of the philtrum with the apex to the columella HP:0011825 IAO:0000115 nl Prominence of a triangular soft tissue area of the philtrum with the apex to the columella NOT_TRANSLATED +en Prominence of blood vessels of the deep episcleral tissues HP:0025340 IAO:0000115 nl Prominence of blood vessels of the deep episcleral tissues NOT_TRANSLATED +en Prominence of blood vessels of the superficial episcleral tissues HP:0025339 IAO:0000115 nl Prominence of blood vessels of the superficial episcleral tissues NOT_TRANSLATED +en Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face HP:0010620 IAO:0000115 nl Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face NOT_TRANSLATED +en Prominence of the premaxilla HP:0010759 rdfs:label nl Prominentie van de premaxilla CANDIDATE +en Prominence of the zygomatic bone HP:0012370 rdfs:label nl Prominentie van het os zygomaticum CANDIDATE +en Prominent S wave in lead I HP:0032196 rdfs:label nl Prominent S wave in lead I NOT_TRANSLATED +en Prominent U wave HP:0025072 rdfs:label nl Prominente U-golf CANDIDATE +en Prominent antihelix HP:0000395 rdfs:label nl Prominente antihelix CANDIDATE +en Prominent antitragus HP:0008593 rdfs:label nl Prominente antitragus CANDIDATE +en Prominent calcaneus HP:0012428 rdfs:label nl Prominente calcaneus CANDIDATE +en Prominent coccyx HP:0040016 rdfs:label nl Prominent coccyx CANDIDATE +en Prominent corneal nerve fibers HP:0010726 rdfs:label nl Prominente corneale zenuwvezels CANDIDATE +en Prominent crus of helix HP:0009899 rdfs:label nl Prominente crus helicis CANDIDATE +en Prominent deltoid tuberosities HP:0003890 rdfs:label nl Prominente tuberositas deltoidea CANDIDATE +en Prominent digit pad HP:0011298 rdfs:label nl Prominent digit pad NOT_TRANSLATED +en Prominent ear helix HP:0009904 rdfs:label nl Prominente helix CANDIDATE +en Prominent eyelashes HP:0011231 rdfs:label nl Prominente wimpers CANDIDATE +en Prominent fingertip pads HP:0001212 rdfs:label nl Prominente vingertoppen CANDIDATE +en Prominent floating ribs HP:0006641 rdfs:label nl Prominente floating ribben CANDIDATE +en Prominent forehead HP:0011220 rdfs:label nl Prominent voorhoofd CANDIDATE +en Prominent frontal sinuses HP:0005478 rdfs:label nl Prominente frontale sinussen CANDIDATE +en Prominent glabella HP:0002057 rdfs:label nl Prominente glabella CANDIDATE +en Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM HP:0033501 IAO:0000115 nl Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM NOT_TRANSLATED +en Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals HP:0033283 IAO:0000115 nl Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals NOT_TRANSLATED +en Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals HP:0033284 IAO:0000115 nl Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals NOT_TRANSLATED +en Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy HP:0033285 IAO:0000115 nl Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy NOT_TRANSLATED +en Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney HP:0004722 IAO:0000115 nl Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney NOT_TRANSLATED +en Prominent inferior crus of antihelix HP:0011238 rdfs:label nl Prominente inferieure crus anthelicis CANDIDATE +en Prominent interdigital folds HP:0006189 rdfs:label nl Prominente interdigitale plooien CANDIDATE +en Prominent interphalangeal joints HP:0006237 rdfs:label nl Prominente interfalangeale gewrichten CANDIDATE +en Prominent median palatal raphe HP:0002708 rdfs:label nl Prominente mediane raphe palati CANDIDATE +en Prominent metopic ridge HP:0005487 rdfs:label nl Prominente metopische richel CANDIDATE +en Prominent nasal bridge HP:0000426 rdfs:label nl Prominente neusbrug CANDIDATE +en Prominent nasal septum HP:0005322 rdfs:label nl Prominent septum nasi CANDIDATE +en Prominent nasal tip HP:0005274 rdfs:label nl Prominente neuspunt CANDIDATE +en Prominent nasolabial fold HP:0005272 rdfs:label nl Prominente nasolabiale plooi CANDIDATE +en Prominent nipples HP:0004405 rdfs:label nl Prominente tepels CANDIDATE +en Prominent nose HP:0000448 rdfs:label nl Prominente neus CANDIDATE +en Prominent nucleoli of renal tubular epithelial cells HP:0032602 rdfs:label nl Prominent nucleoli of renal tubular epithelial cells NOT_TRANSLATED +en Prominent occiput HP:0000269 rdfs:label nl Prominent occiput CANDIDATE +en Prominent palatine ridges HP:0010291 rdfs:label nl Prominent palatine ridges NOT_TRANSLATED +en Prominent palmar flexion creases HP:0006157 rdfs:label nl Prominente handlijnen CANDIDATE +en Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla HP:0010759 IAO:0000115 nl Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla NOT_TRANSLATED +en Prominent prostate median bar HP:0008742 rdfs:label nl Prominent prostate median bar NOT_TRANSLATED +en Prominent protruding coccyx HP:0008472 rdfs:label nl Prominent uitstekend coccyx CANDIDATE +en Prominent proximal interphalangeal joints HP:0006167 rdfs:label nl Prominente proximale interfalangeale gewrichten CANDIDATE +en Prominent scalp veins HP:0001043 rdfs:label nl Prominente hoofdhuidaderen CANDIDATE +en Prominent scrotal raphe HP:0003246 rdfs:label nl Prominente scrotale raphe CANDIDATE +en Prominent stem of antihelix HP:0011240 rdfs:label nl Prominente stam van antihelix CANDIDATE +en Prominent sternum HP:0000884 rdfs:label nl Prominent borstbeen CANDIDATE +en Prominent styloid process of ulna HP:0004981 rdfs:label nl Prominent processus styloideus van de ulna CANDIDATE +en Prominent subcalcaneal fat pad HP:0032276 rdfs:label nl Prominent subcalcaneal fat pad NOT_TRANSLATED +en Prominent superficial blood vessels HP:0007394 rdfs:label nl Prominente oppervlakkige bloedvaten CANDIDATE +en Prominent superficial veins HP:0001015 rdfs:label nl Prominente oppervlakkige aders CANDIDATE +en Prominent superior crus of antihelix HP:0011247 rdfs:label nl Prominente superieure crus anthelicis CANDIDATE +en Prominent supraorbital arches in adult HP:0004676 rdfs:label nl Prominent supraorbital arches in adult NOT_TRANSLATED +en Prominent supraorbital ridges HP:0000336 rdfs:label nl Prominente supraorbitale ruggen CANDIDATE +en Prominent thoracic and abdominal veins HP:0007457 IAO:0000115 nl Prominent thoracic and abdominal veins NOT_TRANSLATED +en Prominent tragus HP:0011271 rdfs:label nl Prominente tragus CANDIDATE +en Prominent umbilicus HP:0001544 rdfs:label nl Prominente navel CANDIDATE +en Prominent veins on trunk HP:0007457 rdfs:label nl Prominente aderen op romp CANDIDATE +en Prominent xiphoid process HP:0100893 rdfs:label nl Prominent processus xiphoideus CANDIDATE +en Pronoun reversal HP:4000073 rdfs:label nl Pronoun reversal NOT_TRANSLATED +en Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI HP:4000008 IAO:0000115 nl Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI NOT_TRANSLATED +en Propionic acidemia HP:0003571 rdfs:label nl Propionacidurie CANDIDATE +en Propionyl-CoA carboxylase deficiency HP:0003353 rdfs:label nl Propionyl-CoA carboxylase deficiëntie CANDIDATE +en Proportionate short stature HP:0003508 rdfs:label nl Geproportioneerde kleine lengte CANDIDATE +en Proportionate shortening of all digits HP:0006165 rdfs:label nl Proportionele verkorting van alle vingers/tenen CANDIDATE +en Proportionate tall stature HP:0011407 rdfs:label nl Geproportionele lange lengte CANDIDATE +en Proprioceptive-induced seizure HP:0020211 rdfs:label nl Proprioceptive-induced seizure NOT_TRANSLATED +en Proptosis HP:0000520 rdfs:label nl Proptosis CANDIDATE +en Prosopagnosia HP:0010528 rdfs:label nl Prosopagnosie CANDIDATE +en Prostaglandin E1 exposure HP:4000134 rdfs:label nl Prostaglandin E1 exposure NOT_TRANSLATED +en Prostate cancer HP:0012125 rdfs:label nl Prostaatkanker CANDIDATE +en Prostate mass HP:0020126 rdfs:label nl Prostate mass NOT_TRANSLATED +en Prostate neoplasm HP:0100787 rdfs:label nl Prostaat neoplasma CANDIDATE +en Prostatitis HP:0000024 rdfs:label nl Prostatitis CANDIDATE +en Protanomaly HP:0200018 rdfs:label nl Protanomalie CANDIDATE +en Protanopia HP:0011522 rdfs:label nl Protanopie CANDIDATE +en Protein avoidance HP:0002038 rdfs:label nl Eiwit ontwijking CANDIDATE +en Protein-losing enteropathy HP:0002243 rdfs:label nl Protein-losing enteropathie CANDIDATE +en Proteinuria HP:0000093 rdfs:label nl Proteïnurie CANDIDATE +en Protracted diarrhea HP:0004385 rdfs:label nl Langdurige diarree CANDIDATE +en Protruding coccyx HP:0040017 rdfs:label nl Uitstekend coccyx CANDIDATE +en Protruding ear HP:0000411 rdfs:label nl Uitstekend oor CANDIDATE +en Protruding heel bone, or calcaneus HP:0012428 IAO:0000115 nl Protruding heel bone, or calcaneus NOT_TRANSLATED +en Protruding tongue HP:0010808 rdfs:label nl Uitstekende tong CANDIDATE +en Protrusio acetabuli HP:0003179 rdfs:label nl Protrusio acetabuli CANDIDATE +en Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect HP:0001537 IAO:0000115 nl Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect NOT_TRANSLATED +en Protrusion of the arachnoid and dura through spinal foramina HP:0032478 IAO:0000115 nl Protrusion of the arachnoid and dura through spinal foramina NOT_TRANSLATED +en Protrusion of the contents of the abdominal cavity through the inguinal canal HP:0000023 IAO:0000115 nl Protrusion of the contents of the abdominal cavity through the inguinal canal NOT_TRANSLATED +en Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column HP:0002475 IAO:0000115 nl Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column NOT_TRANSLATED +en Protrusion of the meninges through a defect of the skull or vertebral column HP:0002435 IAO:0000115 nl Protrusion of the meninges through a defect of the skull or vertebral column NOT_TRANSLATED +en Protrusion of the rectal mucous membrane through the anus HP:0002035 IAO:0000115 nl Protrusion of the rectal mucous membrane through the anus NOT_TRANSLATED +en Protuberances at ends of long bones HP:0003105 rdfs:label nl Knobbels aan uiteinden van lange botten CANDIDATE +en Protuberant abdomen HP:0001538 rdfs:label nl Uitpuilende buik CANDIDATE +en Proximal HP:0012840 rdfs:label nl Proximaal CANDIDATE +en Proximal amyotrophy HP:0007126 rdfs:label nl Proximale amyotrofie CANDIDATE +en Proximal aortic arch hypoplasia HP:0034228 rdfs:label nl Proximal aortic arch hypoplasia NOT_TRANSLATED +en Proximal esophageal atresia HP:0004403 rdfs:label nl Proximale oesofagusatresie CANDIDATE +en Proximal femoral epiphysiolysis HP:0006461 rdfs:label nl Epifysiolyse proximale femur CANDIDATE +en Proximal femoral focal deficiency HP:0030772 rdfs:label nl Proximal femoral focal deficiency NOT_TRANSLATED +en Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb HP:0030772 IAO:0000115 nl Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb NOT_TRANSLATED +en Proximal femoral metaphyseal abnormality HP:0006431 rdfs:label nl Proximale femorale metafysaire afwijking CANDIDATE +en Proximal femoral metaphyseal irregularity HP:0003411 rdfs:label nl Proximale femorale metafysaire onregelmatigheid CANDIDATE +en Proximal fibular overgrowth HP:0005067 rdfs:label nl Proximale fibulaire overgroei CANDIDATE +en Proximal finger joint hyperextensibility HP:0005190 rdfs:label nl Proximale vinger gewricht hyperextensibiliteit CANDIDATE +en Proximal foot symphalangism HP:0100237 rdfs:label nl Symfalangisme van de proximale voet CANDIDATE +en Proximal humeral metaphyseal irregularity HP:0005043 rdfs:label nl Proximale onregelmatigheid van de metafyse van de humerus CANDIDATE +en Proximal hyperreflexia HP:0007054 rdfs:label nl Hyperreflexie proximaal CANDIDATE +en Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement HP:0009185 IAO:0000115 nl Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement NOT_TRANSLATED +en Proximal limb muscle stiffness HP:0007066 rdfs:label nl Proximale ledemaat spierstijfheid CANDIDATE +en Proximal lower limb amyotrophy HP:0008956 rdfs:label nl Proximale onderste extremiteit amyotrofie CANDIDATE +en Proximal mislocalization of the big toe from its normal position HP:0011926 IAO:0000115 nl Proximal mislocalization of the big toe from its normal position NOT_TRANSLATED +en Proximal mislocalization of the thumb HP:0009623 IAO:0000115 nl Proximal mislocalization of the thumb NOT_TRANSLATED +en Proximal muscle weakness HP:0003701 rdfs:label nl Proximale spierzwakte CANDIDATE +en Proximal muscle weakness in lower limbs HP:0008994 rdfs:label nl Proximale spierzwakte in onderste extremiteiten CANDIDATE +en Proximal muscle weakness in upper limbs HP:0008997 rdfs:label nl Proximale spierzwakte in bovenste extremiteiten CANDIDATE +en Proximal phalangeal periosteal thickening HP:0006175 rdfs:label nl Proximale periosteale verdikking van falanx CANDIDATE +en Proximal placement of hallux HP:0011926 rdfs:label nl Proximaal geplaatste hallux CANDIDATE +en Proximal placement of thumb HP:0009623 rdfs:label nl Proximaal geplaatste duim CANDIDATE +en Proximal radial head dislocation HP:0005070 rdfs:label nl Proximale radiuskop dislocatie CANDIDATE +en Proximal radial shortening owing to a congenital defect of development HP:0006434 IAO:0000115 nl Proximal radial shortening owing to a congenital defect of development NOT_TRANSLATED +en Proximal radio-ulnar synostosis HP:0005037 rdfs:label nl Proximale radio-ulnaire synostose CANDIDATE +en Proximal renal tubular acidosis HP:0002049 rdfs:label nl Proximale renale tubulaire acidose CANDIDATE +en Proximal scleroderma HP:0550003 rdfs:label nl Proximale sclerodermie CANDIDATE +en Proximal spinal muscular atrophy HP:0006959 rdfs:label nl Proximale spinale musculaire atrofie CANDIDATE +en Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem HP:0006959 IAO:0000115 nl Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem NOT_TRANSLATED +en Proximal symphalangism HP:0100264 rdfs:label nl Proximaal symfalangisme CANDIDATE +en Proximal symphalangism of hands HP:0006152 rdfs:label nl Proximaal symfalangisme van handen CANDIDATE +en Proximal tapering of metacarpals HP:0006119 rdfs:label nl Proximal tapering of metacarpals NOT_TRANSLATED +en Proximal tibial and fibular fusion HP:0005892 rdfs:label nl Proximale tibia en fibula fusie CANDIDATE +en Proximal tibial hypoplasia HP:0006379 rdfs:label nl Proximale hypoplasie van de tibia CANDIDATE +en Proximal tubulopathy HP:0000114 rdfs:label nl Proximale tubulopathie CANDIDATE +en Proximal upper limb amyotrophy HP:0008948 rdfs:label nl Proximale bovenste extremiteit amyotrofie CANDIDATE +en Proximal upper limb muscle hypertrophy HP:0040266 rdfs:label nl Proximale bovenste extremiteit spier hypertrofie CANDIDATE +en Proximal/middle symphalangism of 2nd toe HP:0100489 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 2e teen CANDIDATE +en Proximal/middle symphalangism of 3rd finger HP:0009482 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 3e vinger CANDIDATE +en Proximal/middle symphalangism of 3rd toe HP:0100480 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 3e teen CANDIDATE +en Proximal/middle symphalangism of 4th finger HP:0009477 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 4e vinger CANDIDATE +en Proximal/middle symphalangism of 4th toe HP:0100481 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 4e teen CANDIDATE +en Proximal/middle symphalangism of 5th finger HP:0009177 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 5e vinger CANDIDATE +en Proximal/middle symphalangism of 5th toe HP:0100482 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 5e teen CANDIDATE +en Proximal/middle symphalangism of the 2nd finger HP:0009579 rdfs:label nl Symfalangisme van het proximale/middelste falanx van de 2e vinger CANDIDATE +en Proximally placed carpal bones HP:0004239 rdfs:label nl Proximaal geplaatste carpale botten CANDIDATE +en Proximally placed lunate HP:0004250 rdfs:label nl Proximaal geplaatst os lunatum CANDIDATE +en Prune belly HP:0004392 rdfs:label nl Prune belly CANDIDATE +en Pruritis on abdomen HP:0030898 rdfs:label nl Pruritis op buik CANDIDATE +en Pruritis on breast HP:0030901 rdfs:label nl Pruritis op borst CANDIDATE +en Pruritis on hand HP:0030899 rdfs:label nl Pruritis op hand CANDIDATE +en Pruritus HP:0000989 rdfs:label nl Pruritus CANDIDATE +en Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus HP:0000989 IAO:0000115 nl Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus NOT_TRANSLATED +en Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye HP:0033841 IAO:0000115 nl Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye NOT_TRANSLATED +en Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand HP:0031248 IAO:0000115 nl Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand NOT_TRANSLATED +en Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen HP:0030898 IAO:0000115 nl Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen NOT_TRANSLATED +en Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast HP:0030901 IAO:0000115 nl Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast NOT_TRANSLATED +en Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot HP:0030900 IAO:0000115 nl Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot NOT_TRANSLATED +en Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand HP:0030899 IAO:0000115 nl Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand NOT_TRANSLATED +en Pruritus on foot HP:0030900 rdfs:label nl Pruritus op voet CANDIDATE +en Pruritus vulvae HP:0032004 rdfs:label nl Pruritus vulvae NOT_TRANSLATED +en Pseudarthrosis of the forearm bones HP:0003965 rdfs:label nl Pseudoartrose van de botten van onderarm CANDIDATE +en Pseudarthrosis of the radius HP:0003980 rdfs:label nl Pseudoartrose van de radius CANDIDATE +en Pseudo-chilblain HP:0033696 rdfs:label nl Pseudo-chilblain NOT_TRANSLATED +en Pseudo-chilblains on fingers HP:0034037 rdfs:label nl Pseudo-chilblains on fingers NOT_TRANSLATED +en Pseudo-chilblains on toes HP:0034036 rdfs:label nl Pseudo-chilblains on toes NOT_TRANSLATED +en Pseudo-fractures HP:0100036 rdfs:label nl Pseudo-fracturen CANDIDATE +en Pseudoaneurysm HP:0031625 rdfs:label nl Pseudo-aneurysma CANDIDATE +en Pseudoarthrosis HP:0005864 rdfs:label nl Pseudoartrose CANDIDATE +en Pseudoautosomal dominant inheritance HP:0034340 rdfs:label nl Pseudoautosomal dominant inheritance NOT_TRANSLATED +en Pseudoautosomal inheritance HP:0034339 rdfs:label nl Pseudoautosomal inheritance NOT_TRANSLATED +en Pseudoautosomal recessive inheritance HP:0034341 rdfs:label nl Pseudoautosomal recessive inheritance NOT_TRANSLATED +en Pseudobulbar behavioral symptoms HP:0002193 rdfs:label nl Pseudobulbaire gedrags symptomen CANDIDATE +en Pseudobulbar paralysis HP:0007024 rdfs:label nl Pseudobulbaire paralyse CANDIDATE +en Pseudobulbar signs HP:0002200 rdfs:label nl Pseudobulbaire tekenen CANDIDATE +en Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc HP:0002200 IAO:0000115 nl Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc NOT_TRANSLATED +en Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum HP:0005295 IAO:0000115 nl Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum NOT_TRANSLATED +en Pseudocoarctation of the aorta HP:0005295 rdfs:label nl Pseudocoarctatie van de aorta CANDIDATE +en Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns HP:0025728 IAO:0000115 nl Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns NOT_TRANSLATED +en Pseudoepiphyses HP:0010584 rdfs:label nl Pseudo-epifysen CANDIDATE +en Pseudoepiphyses of hand bones HP:0004288 rdfs:label nl Pseudo-epifysen van hand botten CANDIDATE +en Pseudoepiphyses of second metacarpal HP:0006179 rdfs:label nl Pseudo-epifysen van de 2e metacarpaal CANDIDATE +en Pseudoepiphyses of the 2nd toe HP:0100051 rdfs:label nl Pseudo-epifysen van de 2e teen CANDIDATE +en Pseudoepiphyses of the 3rd finger HP:0009417 rdfs:label nl Pseudo-epifysen van de 3e vinger CANDIDATE +en Pseudoepiphyses of the 3rd toe HP:0100062 rdfs:label nl Pseudo-epifysen van de 3e teen CANDIDATE +en Pseudoepiphyses of the 4th finger HP:0009400 rdfs:label nl Pseudo-epifysen van de 4e vinger CANDIDATE +en Pseudoepiphyses of the 4th toe HP:0100073 rdfs:label nl Pseudo-epifysen van de 4e teen CANDIDATE +en Pseudoepiphyses of the 5th finger HP:0009389 rdfs:label nl Pseudo-epifysen van de 5e vinger CANDIDATE +en Pseudoepiphyses of the 5th toe HP:0100084 rdfs:label nl Pseudo-epifysen van de 5e teen CANDIDATE +en Pseudoepiphyses of the distal phalanges of the hand HP:0010253 rdfs:label nl Pseudo-epifysen van distale falangen van hand CANDIDATE +en Pseudoepiphyses of the hallux HP:0010120 rdfs:label nl Pseudo-epifysen van de hallux CANDIDATE +en Pseudoepiphyses of the metacarpals HP:0009193 rdfs:label nl Pseudo-epifysen van de metacarpalen CANDIDATE +en Pseudoepiphyses of the middle phalanges of the hand HP:0010264 rdfs:label nl Pseudo-epifysen van middelste falangen van hand CANDIDATE +en Pseudoepiphyses of the phalanges of the hand HP:0010235 rdfs:label nl Pseudo-epifysen van falangen van hand CANDIDATE +en Pseudoepiphyses of the proximal phalanges of the hand HP:0010275 rdfs:label nl Pseudo-epifysen van proximale falangen van hand CANDIDATE +en Pseudoepiphyses of the toes HP:0010169 rdfs:label nl Pseudo-epifyses van de tenen CANDIDATE +en Pseudoepiphysis of the 1st metacarpal HP:0010022 rdfs:label nl Pseudo-epifyse van de 1e metacarpaal CANDIDATE +en Pseudoepiphysis of the 1st metatarsal HP:0010156 rdfs:label nl Pseudo-epifyse van de 1e metatarsaal CANDIDATE +en Pseudoepiphysis of the 2nd finger HP:0009495 rdfs:label nl Pseudo-epifysen van de 2e vinger CANDIDATE +en Pseudoepiphysis of the 3rd metacarpal HP:0010223 rdfs:label nl Pseudo-epifyse van de 3e metacarpaal CANDIDATE +en Pseudoepiphysis of the 4th metacarpal HP:0010225 rdfs:label nl Pseudo-epifyse van de 4e metacarpaal CANDIDATE +en Pseudoepiphysis of the 5th metacarpal HP:0010227 rdfs:label nl Pseudo-epifyse van de 5e metacarpaal CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 2nd finger HP:0009509 rdfs:label nl Pseudo-epifyse van de distale falanx van de 2e vinger CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 2nd toe HP:0100107 rdfs:label nl Pseudo-epifyse van de distale falanx van de 2e teen CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 3rd finger HP:0009342 rdfs:label nl Pseudo-epifyse van de distale falanx van de 3e vinger CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 3rd toe HP:0100142 rdfs:label nl Pseudo-epifyse van de distale falanx van de 3e teen CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 4th finger HP:0009257 rdfs:label nl Pseudo-epifyse van de distale falanx van de 4e vinger CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 4th toe HP:0100176 rdfs:label nl Pseudo-epifyse van de distale falanx van de 4e teen CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 5th finger HP:0009188 rdfs:label nl Pseudo-epifyse van de distale falanx van de 5e vinger CANDIDATE +en Pseudoepiphysis of the distal phalanx of the 5th toe HP:0100209 rdfs:label nl Pseudo-epifyse van de distale falanx van de 5e teen CANDIDATE +en Pseudoepiphysis of the distal phalanx of the hallux HP:0010145 rdfs:label nl Pseudo-epifyse van de distale falanx van de hallux CANDIDATE +en Pseudoepiphysis of the distal phalanx of the thumb HP:0009682 rdfs:label nl Pseudo-epifyse van de distale falanx van de duim CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 2nd finger HP:0009520 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 2nd toe HP:0100118 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 2e teen CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 3rd finger HP:0009328 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 3rd toe HP:0100153 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 3e teen CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 4th finger HP:0009221 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 4th toe HP:0100187 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 4e teen CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 5th finger HP:0009210 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Pseudoepiphysis of the middle phalanx of the 5th toe HP:0100220 rdfs:label nl Pseudo-epifyse van de middelste falanx van de 5e teen CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 2nd finger HP:0009531 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 2nd toe HP:0100129 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 2e teen CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 3rd finger HP:0009353 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 3rd toe HP:0100164 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 3e teen CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 4th finger HP:0009268 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 4th toe HP:0100198 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 4e teen CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 5th finger HP:0009200 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the 5th toe HP:0100231 rdfs:label nl Pseudo-epifyse van de proximale falanx van de 5e teen CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the hallux HP:0010134 rdfs:label nl Pseudo-epifyse van de proximale falanx van de hallux CANDIDATE +en Pseudoepiphysis of the proximal phalanx of the thumb HP:0009671 rdfs:label nl Pseudo-epifyse van de proximale falanx van de duim CANDIDATE +en Pseudoepiphysis of the thumb HP:0009693 rdfs:label nl Pseudo-epifyse van de duim CANDIDATE +en Pseudoexfoliation HP:0012627 rdfs:label nl Pseudo-exfoliatie CANDIDATE +en Pseudohypoaldosteronism HP:0008242 rdfs:label nl Pseudohypoaldosteronisme CANDIDATE +en Pseudohypoparathyroidism HP:0000852 rdfs:label nl Pseudohypoparathyroidisme CANDIDATE +en Pseudopapilledema HP:0000538 rdfs:label nl Pseudopapilledema CANDIDATE +en Pseudophakia HP:0500081 rdfs:label nl Pseudophakia NOT_TRANSLATED +en Pseudoseizure HP:0033053 rdfs:label nl Pseudoseizure NOT_TRANSLATED +en Psoriasiform dermatitis HP:0003765 rdfs:label nl Psoriasiforme dermatitis CANDIDATE +en Psoriasiform lesion HP:0025526 rdfs:label nl Psoriasiforme laesie CANDIDATE +en Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed HP:0033327 IAO:0000115 nl Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed NOT_TRANSLATED +en Psychic epileptic aura HP:0033346 rdfs:label nl Psychic epileptic aura NOT_TRANSLATED +en Psychogenic non-epileptic seizure HP:0033052 rdfs:label nl Psychogenic non-epileptic seizure NOT_TRANSLATED +en Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging HP:0033052 IAO:0000115 nl Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging NOT_TRANSLATED +en Psychomotor deterioration HP:0002361 rdfs:label nl Psychomotorische achteruitgang CANDIDATE +en Psychosis HP:0000709 rdfs:label nl Psychose CANDIDATE +en Psychotic episodes HP:0000725 rdfs:label nl Psychotische episoden CANDIDATE +en Psychotic mentation HP:0001345 rdfs:label nl Psychotische mentatie CANDIDATE +en Pterygia affecting the neck HP:0009759 IAO:0000115 nl Pterygia affecting the neck NOT_TRANSLATED +en Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits HP:0001059 IAO:0000115 nl Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits NOT_TRANSLATED +en Pterygium HP:0001059 rdfs:label nl Pterygium CANDIDATE +en Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric HP:0009760 IAO:0000115 nl Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric NOT_TRANSLATED +en Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline HP:0000465 IAO:0000115 nl Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline NOT_TRANSLATED +en Pterygium of nails HP:0002165 rdfs:label nl Pterygium van nagels CANDIDATE +en Ptosis HP:0000508 rdfs:label nl Ptosis CANDIDATE +en Pubertal developmental failure in females HP:0008647 rdfs:label nl Falen van puberale ontwikkeling in vrouwen CANDIDATE +en Puberty and gonadal disorders HP:0008373 rdfs:label nl Puberteit en gonadale stoornissen CANDIDATE +en Puerpural onset HP:4000040 rdfs:label nl Puerpural onset NOT_TRANSLATED +en Pugilistic facies HP:0000339 rdfs:label nl Boksaangezicht CANDIDATE +en Pulmonary air embolism HP:0033426 rdfs:label nl Pulmonary air embolism NOT_TRANSLATED +en Pulmonary amyloidosis HP:0033247 rdfs:label nl Pulmonary amyloidosis NOT_TRANSLATED +en Pulmonary arterial atherosclerosis HP:0031272 rdfs:label nl Pulmonale arteriële atherosclerose CANDIDATE +en Pulmonary arterial hypertension HP:0002092 rdfs:label nl Pulmonale arteriele hypertensie CANDIDATE +en Pulmonary arterial hypertension with lack of acute response to NO challenge HP:0033424 rdfs:label nl Pulmonary arterial hypertension with lack of acute response to NO challenge NOT_TRANSLATED +en Pulmonary arterial hypertension with positive acute response to NO challenge HP:0033423 rdfs:label nl Pulmonary arterial hypertension with positive acute response to NO challenge NOT_TRANSLATED +en Pulmonary arterial medial hypertrophy HP:0004964 rdfs:label nl Pulmonale arteriële mediale hypertrofie CANDIDATE +en Pulmonary arterial plexiform lesion HP:0033420 rdfs:label nl Pulmonary arterial plexiform lesion NOT_TRANSLATED +en Pulmonary arteriovenous fistulas HP:0004952 rdfs:label nl Pulmonale arterioveneuze fistels CANDIDATE +en Pulmonary arteriovenous malformation HP:0006548 rdfs:label nl Pulmonale arterioveneuze malformatie CANDIDATE +en Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins HP:0006548 IAO:0000115 nl Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins NOT_TRANSLATED +en Pulmonary artery adventitial fibrosis HP:0033422 rdfs:label nl Pulmonary artery adventitial fibrosis NOT_TRANSLATED +en Pulmonary artery aneurysm HP:0004937 rdfs:label nl Arteria pulmonalis aneurysma CANDIDATE +en Pulmonary artery atresia HP:0004935 rdfs:label nl Arteria pulmonalis atresie CANDIDATE +en Pulmonary artery dilatation HP:0004927 rdfs:label nl Arteria pulmonalis dilatatie CANDIDATE +en Pulmonary artery hypoplasia HP:0004971 rdfs:label nl Hypoplasie van de arteria pulmonalis CANDIDATE +en Pulmonary artery intimal thickening HP:0033421 rdfs:label nl Pulmonary artery intimal thickening NOT_TRANSLATED +en Pulmonary artery sling HP:0004961 rdfs:label nl Pulmonary artery sling NOT_TRANSLATED +en Pulmonary artery stenosis HP:0004415 rdfs:label nl Arteria pulmonalis stenose CANDIDATE +en Pulmonary artery vasoconstriction HP:0005308 rdfs:label nl Arteria pulmonalis vasoconstrictie CANDIDATE +en Pulmonary aterial intimal fibrosis HP:0005312 rdfs:label nl Fibrose van intima van arteria pulmonalis CANDIDATE +en Pulmonary bleb HP:0032447 rdfs:label nl Pulmonary bleb NOT_TRANSLATED +en Pulmonary blood flow redistribution HP:0033674 rdfs:label nl Pulmonary blood flow redistribution NOT_TRANSLATED +en Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung HP:0033674 IAO:0000115 nl Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung NOT_TRANSLATED +en Pulmonary bulla HP:0032446 rdfs:label nl Pulmonary bulla NOT_TRANSLATED +en Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema HP:0032446 IAO:0000115 nl Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema NOT_TRANSLATED +en Pulmonary capillary angioectasia HP:0033427 rdfs:label nl Pulmonary capillary angioectasia NOT_TRANSLATED +en Pulmonary capillary hemangiomatosis HP:0005954 rdfs:label nl Pulmonale capillaire hemangiomatose CANDIDATE +en Pulmonary capillary wedge pressure (PCWP) above 15mmHg HP:0030876 IAO:0000115 nl Pulmonary capillary wedge pressure (PCWP) above 15mmHg NOT_TRANSLATED +en Pulmonary carcinoid tumor HP:0030445 rdfs:label nl Pulmonaal carcinoïd CANDIDATE +en Pulmonary cavity HP:0033655 rdfs:label nl Pulmonary cavity NOT_TRANSLATED +en Pulmonary chondroma HP:0031474 rdfs:label nl Pulmonaal chondroom CANDIDATE +en Pulmonary cyst HP:0032445 rdfs:label nl Pulmonary cyst NOT_TRANSLATED +en Pulmonary edema HP:0100598 rdfs:label nl Pulmonaal oedeem CANDIDATE +en Pulmonary embolism HP:0002204 rdfs:label nl Longembolie CANDIDATE +en Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung HP:0034192 IAO:0000115 nl Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung NOT_TRANSLATED +en Pulmonary fat embolism HP:0032008 rdfs:label nl Pulmonary fat embolism NOT_TRANSLATED +en Pulmonary fibrosis HP:0002206 rdfs:label nl Longfibrose CANDIDATE +en Pulmonary granulomatosis HP:0030250 rdfs:label nl Pulmonale granulomatose CANDIDATE +en Pulmonary hemorrhage HP:0040223 rdfs:label nl Pulmonale bloeding CANDIDATE +en Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease HP:0040223 IAO:0000115 nl Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease NOT_TRANSLATED +en Pulmonary histoplasmosis HP:0032258 rdfs:label nl Pulmonary histoplasmosis NOT_TRANSLATED +en Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position HP:0002092 IAO:0000115 nl Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position NOT_TRANSLATED +en Pulmonary hypertensive crisis HP:0033352 rdfs:label nl Pulmonary hypertensive crisis NOT_TRANSLATED +en Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output HP:0033352 IAO:0000115 nl Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output NOT_TRANSLATED +en Pulmonary hypoplasia HP:0002089 rdfs:label nl Pulmonale hypoplasie CANDIDATE +en Pulmonary imaging sign HP:0033775 rdfs:label nl Pulmonary imaging sign NOT_TRANSLATED +en Pulmonary infiltrates HP:0002113 rdfs:label nl Pulmonale infiltraten CANDIDATE +en Pulmonary insufficiency HP:0010444 rdfs:label nl Pulmonaalklepinsufficiëntie CANDIDATE +en Pulmonary interstitial high-resolution computed tomography abnormality HP:0025389 rdfs:label nl Pulmonaire interstitiële hoge-resolutie computertomografie afwijking CANDIDATE +en Pulmonary interstitial lymphocyte infiltration HP:0033582 rdfs:label nl Pulmonary interstitial lymphocyte infiltration NOT_TRANSLATED +en Pulmonary interstitial thickening HP:0033711 rdfs:label nl Pulmonary interstitial thickening NOT_TRANSLATED +en Pulmonary lymphangiectasia HP:0006521 rdfs:label nl Pulmonale lymfangiëctasieën CANDIDATE +en Pulmonary lymphangiomyomatosis HP:0012798 rdfs:label nl Pulmonale lymfangiomyomatose CANDIDATE +en Pulmonary lymphoma HP:0011953 rdfs:label nl Pulmonaal lymfoom CANDIDATE +en Pulmonary mass HP:0033821 rdfs:label nl Pulmonary mass NOT_TRANSLATED +en Pulmonary mycetoma HP:0033651 rdfs:label nl Pulmonary mycetoma NOT_TRANSLATED +en Pulmonary necrosis HP:0033243 rdfs:label nl Pulmonary necrosis NOT_TRANSLATED +en Pulmonary nodule HP:0033608 rdfs:label nl Pulmonary nodule NOT_TRANSLATED +en Pulmonary oligemia HP:0033671 rdfs:label nl Pulmonary oligemia NOT_TRANSLATED +en Pulmonary opacity HP:0031457 rdfs:label nl Pulmonale opaciteit CANDIDATE +en Pulmonary paraglioma HP:0100636 rdfs:label nl Pulmonaal paraglioom CANDIDATE +en Pulmonary parenchymal band HP:0033650 rdfs:label nl Pulmonary parenchymal band NOT_TRANSLATED +en Pulmonary pneumatocele HP:0025419 rdfs:label nl Pulmonale pneumatocele CANDIDATE +en Pulmonary pseudocavity HP:0033648 rdfs:label nl Pulmonary pseudocavity NOT_TRANSLATED +en Pulmonary sequestration HP:0100632 rdfs:label nl Pulmonale sequestratie CANDIDATE +en Pulmonary situs ambiguus HP:0011617 rdfs:label nl Pulmonale situs ambiguus CANDIDATE +en Pulmonary situs ambiguus with bilateral morphologic left lungs HP:0011619 rdfs:label nl Pulmonale situs ambiguus met bilaterale morfologische linker longen CANDIDATE +en Pulmonary situs ambiguus with bilateral morphologic right lungs HP:0011618 rdfs:label nl Pulmonale situs ambiguus met bilaterale morfologische rechter longen CANDIDATE +en Pulmonary situs inversus HP:0011616 rdfs:label nl Pulmonale situs inversus CANDIDATE +en Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention HP:0033610 IAO:0000115 nl Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention NOT_TRANSLATED +en Pulmonary thromboembolism HP:0034192 rdfs:label nl Pulmonary thromboembolism NOT_TRANSLATED +en Pulmonary tuberculosis HP:0032262 rdfs:label nl Pulmonary tuberculosis NOT_TRANSLATED +en Pulmonary valve atresia HP:0010882 rdfs:label nl Pulmonaalklep atresie CANDIDATE +en Pulmonary valve defects HP:0005148 rdfs:label nl Pulmonale klep defecten CANDIDATE +en Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units HP:0005317 IAO:0000115 nl Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units NOT_TRANSLATED +en Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg HP:0030893 IAO:0000115 nl Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg NOT_TRANSLATED +en Pulmonary vein varix HP:0034389 rdfs:label nl Pulmonary vein varix NOT_TRANSLATED +en Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent HP:0034389 IAO:0000115 nl Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent NOT_TRANSLATED +en Pulmonary venous hypertension HP:0030950 rdfs:label nl Pulmonale veneuze hypertensie CANDIDATE +en Pulmonary venous occlusion HP:0006518 rdfs:label nl Pulmonale veneuze occlusie CANDIDATE +en Pulmonic stenosis HP:0001642 rdfs:label nl Pulmonische stenose CANDIDATE +en Pulmonic valve myxoma HP:0006691 rdfs:label nl Pulmonaalklep myxoom CANDIDATE +en Pulp calcification HP:0003771 rdfs:label nl Pulp calcification NOT_TRANSLATED +en Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies HP:0003771 IAO:0000115 nl Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies NOT_TRANSLATED +en Pulp obliteration HP:0006350 rdfs:label nl Vernietiging van de pulpakamer CANDIDATE +en Pulsatile tinnitus HP:0008629 rdfs:label nl Pulsatiele tinnitus CANDIDATE +en Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation HP:0008629 IAO:0000115 nl Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation NOT_TRANSLATED +en Pulverulent cataract HP:0010693 rdfs:label nl Pulverachtige cataract CANDIDATE +en Punched out lesions in the pigmented layer of the retina HP:0007858 IAO:0000115 nl Punched out lesions in the pigmented layer of the retina NOT_TRANSLATED +en Punctal stenosis HP:0025572 rdfs:label nl Punctal stenosis NOT_TRANSLATED +en Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded HP:0025572 IAO:0000115 nl Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded NOT_TRANSLATED +en Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints) HP:0002764 IAO:0000115 nl Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints) NOT_TRANSLATED +en Punctate cataract HP:0007648 rdfs:label nl Punctate cataract NOT_TRANSLATED +en Punctate corneal dystrophy HP:0007809 rdfs:label nl Punctate corneal dystrophy NOT_TRANSLATED +en Punctate corneal epithelial erosions HP:0000584 rdfs:label nl Punctate corneale epitheliale erosies CANDIDATE +en Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane HP:0033487 IAO:0000115 nl Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane NOT_TRANSLATED +en Punctate keratitis HP:0011859 rdfs:label nl Punctate keratitis NOT_TRANSLATED +en Punctate opacification (reduced transparency) of the corneal stroma HP:0007856 IAO:0000115 nl Punctate opacification (reduced transparency) of the corneal stroma NOT_TRANSLATED +en Punctate opacification of the cornea HP:0007856 rdfs:label nl Punctate opacification of the cornea NOT_TRANSLATED +en Punctate palmar hyperkeratosis HP:0007508 rdfs:label nl Punctate palmar hyperkeratosis NOT_TRANSLATED +en Punctate palmoplantar hyperkeratosis HP:0007530 rdfs:label nl Punctate palmoplantar hyperkeratosis NOT_TRANSLATED +en Punctate periventricular T2 hyperintense foci HP:0030081 rdfs:label nl Gestippelde periventriculaire T2 hyperintense foci CANDIDATE +en Punctate vasculitis skin lesions HP:0200030 rdfs:label nl Punctate vasculitis skin lesions NOT_TRANSLATED +en Punctate vertebral calcifications HP:0008420 rdfs:label nl Punctate vertebral calcifications NOT_TRANSLATED +en Punding HP:0030218 rdfs:label nl Punding CANDIDATE +en Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects HP:0030218 IAO:0000115 nl Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects NOT_TRANSLATED +en Pungent body odor HP:0410021 IAO:0000115 nl Pungent body odor NOT_TRANSLATED +en Pure ground-glass pulmonary nodule HP:0033612 rdfs:label nl Pure ground-glass pulmonary nodule NOT_TRANSLATED +en Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed HP:0033612 IAO:0000115 nl Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed NOT_TRANSLATED +en Pure red cell aplasia HP:0012410 rdfs:label nl Pure red cell aplasia CANDIDATE +en Purely bicuspid aortic valve HP:0031117 rdfs:label nl Zuivere bicuspide aortaklep CANDIDATE +en Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney HP:0032960 IAO:0000115 nl Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney NOT_TRANSLATED +en Purple urine HP:0040322 rdfs:label nl Paarse urine CANDIDATE +en Purpura HP:0000979 rdfs:label nl Purpura CANDIDATE +en Purpura that is flat (non-palpable, not raised) HP:0031365 IAO:0000115 nl Purpura that is flat (non-palpable, not raised) NOT_TRANSLATED +en Pursed lips HP:0000205 rdfs:label nl Getuite lippen CANDIDATE +en Purulent eye discharge HP:0034427 rdfs:label nl Purulent eye discharge NOT_TRANSLATED +en Purulent rhinitis HP:0040334 rdfs:label nl Purulent rhinitis NOT_TRANSLATED +en Pustular rash HP:0033605 rdfs:label nl Pustular rash NOT_TRANSLATED +en Pustule HP:0200039 rdfs:label nl Pustel CANDIDATE +en Pyelonephritis HP:0012330 rdfs:label nl Pyelonefritis CANDIDATE +en Pyknotic bone marrow neutrophils HP:0031019 rdfs:label nl Pyknotische beenmerg neutrofielen CANDIDATE +en Pyloric stenosis HP:0002021 rdfs:label nl Pyloris stenose CANDIDATE +en Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss HP:0002021 IAO:0000115 nl Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss NOT_TRANSLATED +en Pyoderma HP:0000999 rdfs:label nl Pyodermie CANDIDATE +en Pyoderma gangrenosum HP:0025452 rdfs:label nl Pyoderma gangrenosum CANDIDATE +en Pyramidal skinfold extending from the base to the top of the nails HP:0009758 rdfs:label nl Pyramidal skinfold extending from the base to the top of the nails NOT_TRANSLATED +en Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome HP:0009758 IAO:0000115 nl Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome NOT_TRANSLATED +en Pyridoxine-responsive sideroblastic anemia HP:0005522 rdfs:label nl Pyrixodine-responsieve sideroblastaire anemie CANDIDATE +en Pyriform aperture stenosis HP:0025011 rdfs:label nl Stenose van de apertura piriformis CANDIDATE +en Pyrimidine-responsive megaloblastic anemia HP:0003339 rdfs:label nl Pyrimidine-responsieve megaloblastaire anemie CANDIDATE +en Pyropoikilocytosis HP:0004839 rdfs:label nl Pyropoikilocytose CANDIDATE +en Pyuria HP:0012085 rdfs:label nl Pyurie CANDIDATE +en Quadriceps aplasia HP:0009788 rdfs:label nl Quadriceps aplasie CANDIDATE +en Quadriceps muscle atrophy HP:0009050 rdfs:label nl Quadriceps spieratrofie CANDIDATE +en Quadriceps muscle weakness HP:0003731 rdfs:label nl Quadriceps spierzwakte CANDIDATE +en Quadricuspid aortic valve HP:0031655 rdfs:label nl Quadricuspide aortaklep CANDIDATE +en Quadruple gallop rhythm HP:0033114 rdfs:label nl Quadruple gallop rhythm NOT_TRANSLATED +en Qualitatively abnormal fibrinogen HP:0011901 IAO:0000115 nl Qualitatively abnormal fibrinogen NOT_TRANSLATED +en Quelprud nodule HP:0030023 rdfs:label nl Quelprud nodule NOT_TRANSLATED +en Question mark ear HP:0030022 rdfs:label nl Question mark ear NOT_TRANSLATED +en Quotidian HP:0025305 rdfs:label nl Dagelijks CANDIDATE +en Quotidian fever HP:0033087 rdfs:label nl Quotidian fever NOT_TRANSLATED +en Rachitic rosary HP:0000897 rdfs:label nl Rachitische rozenkrans CANDIDATE +en Radial artery aplasia HP:0020118 rdfs:label nl Radial artery aplasia NOT_TRANSLATED +en Radial bowing HP:0002986 rdfs:label nl Bowing van de radius CANDIDATE +en Radial club hand HP:0004059 rdfs:label nl Radial club hand CANDIDATE +en Radial deviation of finger HP:0009466 rdfs:label nl Radiale deviatie van vinger CANDIDATE +en Radial deviation of the 2nd finger HP:0009467 rdfs:label nl Radiale deviatie van de 2e vinger CANDIDATE +en Radial deviation of the 3rd finger HP:0009462 rdfs:label nl Radiale deviatie van de 3e vinger CANDIDATE +en Radial deviation of the 4th finger HP:0009279 rdfs:label nl Radiale deviatie van de 4e vinger CANDIDATE +en Radial deviation of the 5th finger HP:0040020 rdfs:label nl Radiale deviatie van de 5e vinger CANDIDATE +en Radial deviation of the hand HP:0009486 rdfs:label nl Radiale deviatie van de hand CANDIDATE +en Radial deviation of the hand or of fingers of the hand HP:0009485 rdfs:label nl Radiale deviatie van de hand of vingers van de hand CANDIDATE +en Radial deviation of thumb terminal phalanx HP:0005895 rdfs:label nl Radiale deviatie van terminale duimfalanx CANDIDATE +en Radial dysplasia HP:0006433 rdfs:label nl Dysplastische radii CANDIDATE +en Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia HP:0006433 IAO:0000115 nl Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia NOT_TRANSLATED +en Radial head subluxation HP:0003048 rdfs:label nl Subluxatie van de het radiuskopje CANDIDATE +en Radial metaphyseal irregularity HP:0004019 rdfs:label nl Metafysaire onregelmatigheid van de radius CANDIDATE +en Radially deviated wrists HP:0006190 rdfs:label nl Radiaal gedevieerde polsen CANDIDATE +en Radiculomegaly HP:0033189 rdfs:label nl Radiculomegaly NOT_TRANSLATED +en Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) HP:0000934 IAO:0000115 nl Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) NOT_TRANSLATED +en Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging HP:0012063 IAO:0000115 nl Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging NOT_TRANSLATED +en Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density HP:0033542 IAO:0000115 nl Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density NOT_TRANSLATED +en Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root) HP:0000700 IAO:0000115 nl Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root) NOT_TRANSLATED +en Radiolucent focal defect of a rib shaft HP:0030280 IAO:0000115 nl Radiolucent focal defect of a rib shaft NOT_TRANSLATED +en Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest HP:0030282 IAO:0000115 nl Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest NOT_TRANSLATED +en Radioulnar dislocation HP:0006439 rdfs:label nl Radio-ulnaire dislocatie CANDIDATE +en Radioulnar subluxation HP:6000506 rdfs:label nl Radioulnaire subluxatie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Radioulnar synostosis HP:0002974 rdfs:label nl Radioulnaire synostose CANDIDATE +en Ragged cuticle HP:0030808 rdfs:label nl Ragged cuticle NOT_TRANSLATED +en Ragged-red muscle fibers HP:0003200 rdfs:label nl Gerafelde rode spiervezels CANDIDATE +en Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells HP:0030946 IAO:0000115 nl Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells NOT_TRANSLATED +en Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure HP:0001025 IAO:0000115 nl Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure NOT_TRANSLATED +en Ranula HP:0030706 rdfs:label nl Ranula CANDIDATE +en Rapid and unexpected death HP:0001699 IAO:0000115 nl Rapid and unexpected death NOT_TRANSLATED +en Rapid neurologic deterioration HP:0007307 rdfs:label nl Snelle neurologische achteruitgang CANDIDATE +en Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis HP:0100665 IAO:0000115 nl Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis NOT_TRANSLATED +en Rapidly progressive HP:0003678 rdfs:label nl Snel progressief CANDIDATE +en Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) HP:0031974 IAO:0000115 nl Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) HP:0031975 IAO:0000115 nl Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) HP:0031976 IAO:0000115 nl Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) HP:0031977 IAO:0000115 nl Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) HP:0031978 IAO:0000115 nl Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3) NOT_TRANSLATED +en Raw egg-white ingestion HP:4000126 rdfs:label nl Raw egg-white ingestion NOT_TRANSLATED +en Raynaud phenomenon HP:0030880 rdfs:label nl fenomeen van Raynaud CANDIDATE +en Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host HP:0034318 IAO:0000115 nl Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host NOT_TRANSLATED +en Reactive hypoglycemia HP:0012051 rdfs:label nl Reactieve hypoglykemie CANDIDATE +en Reading-induced seizure HP:0020212 rdfs:label nl Reading-induced seizure NOT_TRANSLATED +en Recent blood transfusion HP:4000129 rdfs:label nl Recent blood transfusion NOT_TRANSLATED +en Recent honey ingestion HP:4000125 rdfs:label nl Recent honey ingestion NOT_TRANSLATED +en Recent past medical history HP:4000144 rdfs:label nl Recent past medical history NOT_TRANSLATED +en Receptive aphasia HP:0033848 rdfs:label nl Receptive aphasia NOT_TRANSLATED +en Receptive language delay HP:0010863 rdfs:label nl Receptieve taalachterstand CANDIDATE +en Rectal abscess HP:0005224 rdfs:label nl Rectaal abces CANDIDATE +en Rectal arteriovenous malformation HP:0031346 rdfs:label nl Rectale arterioveneuze malformatie CANDIDATE +en Rectal atresia HP:0025023 rdfs:label nl Rectale atresie CANDIDATE +en Rectal fistula HP:0100590 rdfs:label nl Rectale fistel CANDIDATE +en Rectal perforation HP:0031371 rdfs:label nl Rectale perforatie CANDIDATE +en Rectal polyposis HP:0100896 rdfs:label nl Rectale polyposis CANDIDATE +en Rectal prolapse HP:0002035 rdfs:label nl Rectum prolaps CANDIDATE +en Rectilinear intracellular accumulation of autofluorescent lipopigment storage material HP:0003226 rdfs:label nl Rechtlijnige intracellulaire accumulatie van autofluorescent lipopigment opslag materiaal CANDIDATE +en Rectocele HP:0100822 rdfs:label nl Rectocele CANDIDATE +en Rectoperineal fistula HP:0004792 rdfs:label nl Rectoperineale fistel CANDIDATE +en Rectoureteral fistula HP:0034452 rdfs:label nl Rectoureteral fistula NOT_TRANSLATED +en Rectourethral fistula HP:0025407 rdfs:label nl Rectourethrale fistel CANDIDATE +en Rectovaginal fistula HP:0000143 rdfs:label nl Rectovaginale fistel CANDIDATE +en Rectovesical fistula HP:0034451 rdfs:label nl Rectovesical fistula NOT_TRANSLATED +en Rectovestibular fistula HP:0025025 rdfs:label nl Rectovestibulaire fistel CANDIDATE +en Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract HP:0025026 IAO:0000115 nl Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract NOT_TRANSLATED +en Rectus femoris muscle atrophy HP:0040191 rdfs:label nl Musculus rectus femoris spieratrofie CANDIDATE +en Recurrent HP:0031796 rdfs:label nl Recurrent NOT_TRANSLATED +en Recurrent Aspergillus infections HP:0002724 rdfs:label nl Recidiverende Aspergillus infecties CANDIDATE +en Recurrent Burkholderia cepacia infections HP:0002842 rdfs:label nl Recidiverende Burkholderia cepacia infecties CANDIDATE +en Recurrent E. coli infections HP:0002740 rdfs:label nl Recidiverende E. coli-infecties CANDIDATE +en Recurrent Haemophilus influenzae infections HP:0005376 rdfs:label nl Recidverende Haemophilus influenzae infecties CANDIDATE +en Recurrent Klebsiella infections HP:0002742 rdfs:label nl Recidiverende Klebsiella-infecties CANDIDATE +en Recurrent Neisserial infections HP:0005430 rdfs:label nl Recidiverende Neisseria infecties CANDIDATE +en Recurrent Serratia marcescens infections HP:0002741 rdfs:label nl Recidiverende Serratia marcescens infecties CANDIDATE +en Recurrent Staphylococcus aureus infections HP:0002726 rdfs:label nl Recintellectual disability Staphylococcus aureus infecties CANDIDATE +en Recurrent abscess formation HP:0002722 rdfs:label nl Recidiverende abces vorming CANDIDATE +en Recurrent acute respiratory tract infection HP:0011948 rdfs:label nl Acute luchtweginfectie CANDIDATE +en Recurrent aphthous stomatitis HP:0011107 rdfs:label nl Recidiverende afteuze stomatitis CANDIDATE +en Recurrent aspiration pneumonia HP:0002100 rdfs:label nl Recidiverende aspiratiepneumonie CANDIDATE +en Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues HP:0001997 IAO:0000115 nl Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues NOT_TRANSLATED +en Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable HP:0000740 IAO:0000115 nl Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable NOT_TRANSLATED +en Recurrent bacterial infections HP:0002718 rdfs:label nl Terugkerende bacteriële infecties CANDIDATE +en Recurrent bacterial meningitis HP:0007274 rdfs:label nl Recidiverende bacteriële meningitis CANDIDATE +en Recurrent bacterial skin infections HP:0005406 rdfs:label nl Recidiverende bacteriële huidinfecties CANDIDATE +en Recurrent bacterial upper respiratory tract infections HP:0031949 rdfs:label nl Recurrent bacterial upper respiratory tract infections NOT_TRANSLATED +en Recurrent bleeding into the parenchyma of the brain HP:0004968 IAO:0000115 nl Recurrent bleeding into the parenchyma of the brain NOT_TRANSLATED +en Recurrent bouts of sudden, severe apnea that may be life-threatening HP:0002882 IAO:0000115 nl Recurrent bouts of sudden, severe apnea that may be life-threatening NOT_TRANSLATED +en Recurrent bronchiolitis HP:0100501 rdfs:label nl Terugkerende bronchiolitis CANDIDATE +en Recurrent bronchitis HP:0002837 rdfs:label nl Recidiverende bronchitis CANDIDATE +en Recurrent bronchopulmonary infections HP:0006538 rdfs:label nl Recidiverende bronchopulmonale infecties CANDIDATE +en Recurrent candida infections HP:0005401 rdfs:label nl Recidiverende candida infecties CANDIDATE +en Recurrent cerebral hemorrhage HP:0004968 rdfs:label nl Recidverende hersenbloeding CANDIDATE +en Recurrent corneal erosions HP:0000495 rdfs:label nl Terugkerende corneale erosie CANDIDATE +en Recurrent coughing spasms HP:0033362 rdfs:label nl Recurrent coughing spasms NOT_TRANSLATED +en Recurrent cutaneous abscess formation HP:0100838 rdfs:label nl Recidiverende cutane abces vorming CANDIDATE +en Recurrent cutaneous fungal infections HP:0011370 rdfs:label nl Recidiverende cutane schimmel-infecties CANDIDATE +en Recurrent cystitis HP:0012786 rdfs:label nl Recidiverende cystitis CANDIDATE +en Recurrent deep organ abscess formation HP:0020093 rdfs:label nl Recurrent deep organ abscess formation NOT_TRANSLATED +en Recurrent deep vein thrombosis HP:0004850 rdfs:label nl Terugkerende diep-veneuze trombose CANDIDATE +en Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events HP:0032938 IAO:0000115 nl Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events NOT_TRANSLATED +en Recurrent ear infections HP:0410018 rdfs:label nl Recidiverende oorontstekingen CANDIDATE +en Recurrent encephalopathy HP:0007335 rdfs:label nl Recidiverende encefalopathie CANDIDATE +en Recurrent enteroviral infections HP:0002743 rdfs:label nl Recidiverende enterovirale infecties CANDIDATE +en Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia) HP:0040289 IAO:0000115 nl Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia) NOT_TRANSLATED +en Recurrent episodes of apnea occurring during infancy HP:0005949 IAO:0000115 nl Recurrent episodes of apnea occurring during infancy NOT_TRANSLATED +en Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation HP:0034236 IAO:0000115 nl Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation NOT_TRANSLATED +en Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress HP:0002872 IAO:0000115 nl Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress NOT_TRANSLATED +en Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections HP:0007335 IAO:0000115 nl Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections NOT_TRANSLATED +en Recurrent episodes of decreased concentration of glucose in the blood HP:0001988 IAO:0000115 nl Recurrent episodes of decreased concentration of glucose in the blood NOT_TRANSLATED +en Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period HP:0004914 IAO:0000115 nl Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period NOT_TRANSLATED +en Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks HP:0032157 IAO:0000115 nl Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks NOT_TRANSLATED +en Recurrent episodes of marked eosinophilia that resolve spontaneously HP:0032151 IAO:0000115 nl Recurrent episodes of marked eosinophilia that resolve spontaneously NOT_TRANSLATED +en Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching HP:0003752 IAO:0000115 nl Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching NOT_TRANSLATED +en Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus HP:0410028 IAO:0000115 nl Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus NOT_TRANSLATED +en Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin HP:0031284 IAO:0000115 nl Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin NOT_TRANSLATED +en Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet HP:0032147 IAO:0000115 nl Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet NOT_TRANSLATED +en Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness HP:0033980 IAO:0000115 nl Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness NOT_TRANSLATED +en Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border HP:0011107 IAO:0000115 nl Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border NOT_TRANSLATED +en Recurrent external ophthalmoplegia HP:0007250 rdfs:label nl Recidverende externe oftalmoplegie CANDIDATE +en Recurrent fever HP:0001954 rdfs:label nl Episodische koorts CANDIDATE +en Recurrent fractures HP:0002757 rdfs:label nl Recidiverende fracturen CANDIDATE +en Recurrent fungal infections HP:0002841 rdfs:label nl Recidiverende schimmel-infecties CANDIDATE +en Recurrent gastroenteritis HP:0031123 rdfs:label nl Recidiverende gastro-enteritis CANDIDATE +en Recurrent genital herpes HP:0032157 rdfs:label nl Recurrent genital herpes NOT_TRANSLATED +en Recurrent gingivitis HP:0034284 rdfs:label nl Recurrent gingivitis NOT_TRANSLATED +en Recurrent gram-negative bacterial infections HP:0005420 rdfs:label nl Recidiverende gram-negatieve bacteriële infecties CANDIDATE +en Recurrent hand flapping HP:0100023 rdfs:label nl Terugkerend wapperen met de handen CANDIDATE +en Recurrent herpes HP:0005353 rdfs:label nl Gevoeligheid voor herpesvirus CANDIDATE +en Recurrent hypoglycemia HP:0001988 rdfs:label nl Terugkerende hypoglykemie CANDIDATE +en Recurrent infantile hypoglycemia HP:0004914 rdfs:label nl Terugkerende infantiele hypoglykemie CANDIDATE +en Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida HP:0012204 IAO:0000115 nl Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida NOT_TRANSLATED +en Recurrent infection of the gastrointestinal tract HP:0004798 IAO:0000115 nl Recurrent infection of the gastrointestinal tract NOT_TRANSLATED +en Recurrent infection of the gastrointestinal tract HP:0004798 rdfs:label nl Recidiverende infecties van het gastro-instestinale stelsel CANDIDATE +en Recurrent infections HP:0002719 rdfs:label nl Recidiverende infecties CANDIDATE +en Recurrent infections at an early age with improvement in later childhood HP:0005437 IAO:0000115 nl Recurrent infections at an early age with improvement in later childhood NOT_TRANSLATED +en Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus HP:0005381 IAO:0000115 nl Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus NOT_TRANSLATED +en Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis) HP:0005430 IAO:0000115 nl Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis) NOT_TRANSLATED +en Recurrent infections due to aspiration HP:0004891 rdfs:label nl Recidiverende infecties als gevolg van aspiratie CANDIDATE +en Recurrent infections in infancy and early childhood HP:0005437 rdfs:label nl Recidiverende infecties in jeugd en vroege kinderjaren CANDIDATE +en Recurrent infections of the middle ear HP:0040268 rdfs:label nl Recidiverende infecties van het middenoor CANDIDATE +en Recurrent interdigital mycosis HP:0025351 rdfs:label nl Recidiverende interdigitale mycose CANDIDATE +en Recurrent intrapulmonary hemorrhage HP:0006535 rdfs:label nl Recidverende intrapulmonale bloeding CANDIDATE +en Recurrent joint dislocation HP:0031869 rdfs:label nl Recurrent joint dislocation NOT_TRANSLATED +en Recurrent loss of toenails and fingernails HP:0008390 rdfs:label nl Recidiverend verlies van teen- en vingernagels CANDIDATE +en Recurrent lower respiratory tract infections HP:0002783 rdfs:label nl Recidiverende onderste luchtweginfecties CANDIDATE +en Recurrent mandibular subluxations HP:0005332 rdfs:label nl Terugkerende mandibulaire subluxaties CANDIDATE +en Recurrent meningitis HP:0006946 rdfs:label nl Recidiverende meningitis CANDIDATE +en Recurrent meningococcal disease HP:0005381 rdfs:label nl Recidiverende meningokokkenziekte CANDIDATE +en Recurrent mycobacterial infections HP:0011274 rdfs:label nl Recidiverende mycobacteriële infecties CANDIDATE +en Recurrent mycobacterium avium complex infections HP:0011275 rdfs:label nl Recidiverende mycobacterium avium complex infecties CANDIDATE +en Recurrent myoglobinuria HP:0003652 rdfs:label nl Recidiverende myoglobinurie CANDIDATE +en Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV) HP:0000722 IAO:0000115 nl Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV) NOT_TRANSLATED +en Recurrent opportunistic infections HP:0005390 rdfs:label nl Recidiverende opportunistische infecties CANDIDATE +en Recurrent or excessive bleeding from the mouth HP:0030140 IAO:0000115 nl Recurrent or excessive bleeding from the mouth NOT_TRANSLATED +en Recurrent or persistent genital pain associated with sexual intercourse HP:0030016 IAO:0000115 nl Recurrent or persistent genital pain associated with sexual intercourse NOT_TRANSLATED +en Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress HP:0030017 IAO:0000115 nl Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress NOT_TRANSLATED +en Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails HP:0002728 IAO:0000115 nl Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails NOT_TRANSLATED +en Recurrent oral herpes HP:0410028 rdfs:label nl Orale herpes CANDIDATE +en Recurrent otitis media HP:0000403 rdfs:label nl Terugkerende otitis media CANDIDATE +en Recurrent pancreatitis HP:0100027 rdfs:label nl Terugkerende pancreatitis CANDIDATE +en Recurrent parasitic infections HP:0030885 rdfs:label nl Recidiverende parasitaire infecties CANDIDATE +en Recurrent paroxysmal headache HP:0002331 rdfs:label nl Terugkerende paroxysmale hoofdpijn CANDIDATE +en Recurrent partial dislocations of the mandible HP:0005332 IAO:0000115 nl Recurrent partial dislocations of the mandible NOT_TRANSLATED +en Recurrent patellar dislocation HP:0005001 rdfs:label nl Terugkerende patellaire dislocatie CANDIDATE +en Recurrent pharyngitis HP:0100776 rdfs:label nl Terugkerende faryngitis CANDIDATE +en Recurrent plantar mycosis HP:0025472 rdfs:label nl Recidiverende plantaire mycose CANDIDATE +en Recurrent pneumonia HP:0006532 rdfs:label nl Recidiverende pneumonieën CANDIDATE +en Recurrent protozoan infections HP:0005386 rdfs:label nl Recidiverende protozoa infecties CANDIDATE +en Recurrent pyelonephritis HP:0012787 rdfs:label nl Recidiverende pyelonefritis CANDIDATE +en Recurrent respiratory infections HP:0002205 rdfs:label nl Recidiverende respiratoire infecties CANDIDATE +en Recurrent shingles HP:0032275 rdfs:label nl Recurrent shingles NOT_TRANSLATED +en Recurrent shoulder dislocation HP:0031610 rdfs:label nl Recidiverende schouder dislocatie CANDIDATE +en Recurrent singultus HP:0100247 rdfs:label nl Recidiverende hik CANDIDATE +en Recurrent sinopulmonary infections HP:0005425 rdfs:label nl Recidiverende sinopulmonale infecties CANDIDATE +en Recurrent sinusitis HP:0011108 rdfs:label nl Recidiverende sinusitis CANDIDATE +en Recurrent skin infections HP:0001581 rdfs:label nl Recidiverende huidinfecties CANDIDATE +en Recurrent spontaneous abortion HP:0200067 rdfs:label nl Recidiverende spontane abortus CANDIDATE +en Recurrent staphylococcal infections HP:0007499 rdfs:label nl Recidiverende stafylokokkeninfecties CANDIDATE +en Recurrent streptococcal infections HP:0020096 rdfs:label nl Recurrent streptococcal infections NOT_TRANSLATED +en Recurrent streptococcus pneumoniae infections HP:0005366 rdfs:label nl Recidverende streptococcus pneumoniae infecties CANDIDATE +en Recurrent subcortical infarcts HP:0007236 rdfs:label nl Recidiverende subcorticale infarcten CANDIDATE +en Recurrent systemic pyogenic infections HP:0005429 rdfs:label nl Recidiverende systemische pyogenische infecties CANDIDATE +en Recurrent thromboembolism HP:0004831 rdfs:label nl Recidiverende trombo-embolismen CANDIDATE +en Recurrent thrombophlebitis HP:0004419 rdfs:label nl Recidiverende tromboflebitis CANDIDATE +en Recurrent tonsillitis HP:0011110 rdfs:label nl Tonsillitis CANDIDATE +en Recurrent trauma-related distressing dreams HP:0032938 rdfs:label nl Recurrent trauma-related distressing dreams NOT_TRANSLATED +en Recurrent upper and lower respiratory tract infections HP:0200117 rdfs:label nl Recidiverende bovenste en onderste luchtweginfecties CANDIDATE +en Recurrent upper respiratory tract infections HP:0002788 rdfs:label nl Recidiverende bovenste luchtweginfecties CANDIDATE +en Recurrent urinary tract infections HP:0000010 rdfs:label nl Recidiverende urineweginfecties CANDIDATE +en Recurrent viral infections HP:0004429 rdfs:label nl Recidiverende virale infecties CANDIDATE +en Recurrent viral pneumonia HP:0033214 rdfs:label nl Recurrent viral pneumonia NOT_TRANSLATED +en Recurrent viral skin infections HP:0011371 rdfs:label nl Recidiverende virale huidinfecties CANDIDATE +en Recurrent viral upper respiratory tract infections HP:0033166 rdfs:label nl Recurrent viral upper respiratory tract infections NOT_TRANSLATED +en Recurrent vulvovaginal candidiasis HP:0012204 rdfs:label nl Recidiverende vulvovaginale candidiasis CANDIDATE +en Recurrent, involuntary and intrusive distressing memories HP:0032937 rdfs:label nl Recurrent, involuntary and intrusive distressing memories NOT_TRANSLATED +en Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue HP:0003652 IAO:0000115 nl Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue NOT_TRANSLATED +en Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage HP:0031965 IAO:0000115 nl Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage NOT_TRANSLATED +en Red blood cell keratocytosis HP:0005540 rdfs:label nl Rode bloedcellen keratocytose CANDIDATE +en Red blood cells that appear to have parts of them bitten away HP:0020122 IAO:0000115 nl Red blood cells that appear to have parts of them bitten away NOT_TRANSLATED +en Red desaturation HP:0030585 rdfs:label nl Rood desaturatie CANDIDATE +en Red eye HP:0025337 rdfs:label nl Rood oog CANDIDATE +en Red hair HP:0002297 rdfs:label nl Rood haar CANDIDATE +en Red urine HP:0040318 rdfs:label nl Rode urine CANDIDATE +en Red-brown urine HP:0040320 rdfs:label nl Rood-bruine urine CANDIDATE +en Red-green dyschromatopsia HP:0000642 rdfs:label nl Rood-groenkleurenblindheid CANDIDATE +en Reddish, brown opalescent discoloration of teeth in normal light HP:0030756 IAO:0000115 nl Reddish, brown opalescent discoloration of teeth in normal light NOT_TRANSLATED +en Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin HP:0040323 IAO:0000115 nl Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED +en Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin HP:0001041 IAO:0000115 nl Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED +en Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin HP:0025493 IAO:0000115 nl Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED +en Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin HP:0010783 IAO:0000115 nl Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin NOT_TRANSLATED +en Redness surrounding the hair follicles HP:0031286 IAO:0000115 nl Redness surrounding the hair follicles NOT_TRANSLATED +en Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts HP:6000199 rdfs:label nl Verminderde 3-bèta-hydroxysteroïde-delta-5-desaturase-activiteit in gekweekte fibroblasten OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Reduced 4-Hydroxyphenylpyruvate dioxygenase level HP:0003637 rdfs:label nl Verminderde 4-hydroxyfenylpyruvaat-dioxygenase activiteit CANDIDATE +en Reduced 5-oxoprolinase level HP:0040142 rdfs:label nl 5-oxoprolinase deficiëntie CANDIDATE +en Reduced C-peptide level HP:0030795 rdfs:label nl Verminderd C-peptide niveau CANDIDATE +en Reduced CD95-induced lymphocyte apoptosis HP:0033278 rdfs:label nl Reduced CD95-induced lymphocyte apoptosis NOT_TRANSLATED +en Reduced CSF dopamine concentration HP:0012656 rdfs:label nl Afgenomen liquor dopamine niveau CANDIDATE +en Reduced CSF lactate HP:0030086 rdfs:label nl Verlaagd liquor actaat CANDIDATE +en Reduced FEV1/FVC ratio HP:0030877 rdfs:label nl Obstructief tekort tijdens functioneel longonderzoek CANDIDATE +en Reduced MHC II surface expression HP:0031390 rdfs:label nl Afgenomen MHC II oppervlakte expressie CANDIDATE +en Reduced OCT-measured foveal thickness HP:0030619 rdfs:label nl Verminderde foveale dikte gemeten met OCT CANDIDATE +en Reduced OCT-measured macular thickness HP:0030607 rdfs:label nl Verminderde macula dikte gemeten met OCT CANDIDATE +en Reduced T cell CD40 expression HP:0031384 rdfs:label nl Afgenomen T-cell CD40 expressie CANDIDATE +en Reduced TSH response to thyrotrophin-releasing hormone stimulation test HP:0033082 rdfs:label nl Reduced TSH response to thyrotrophin-releasing hormone stimulation test NOT_TRANSLATED +en Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities) HP:0010794 IAO:0000115 nl Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities) NOT_TRANSLATED +en Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus HP:0030391 IAO:0000115 nl Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus NOT_TRANSLATED +en Reduced ability of the cornea to respond to stimulation HP:0012155 IAO:0000115 nl Reduced ability of the cornea to respond to stimulation NOT_TRANSLATED +en Reduced ability of the liver to perform its functions HP:0001410 IAO:0000115 nl Reduced ability of the liver to perform its functions NOT_TRANSLATED +en Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test HP:0045051 IAO:0000115 nl Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test NOT_TRANSLATED +en Reduced ability of the natural killer cell to function in the adaptive immune response HP:0012178 IAO:0000115 nl Reduced ability of the natural killer cell to function in the adaptive immune response NOT_TRANSLATED +en Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly HP:0001708 IAO:0000115 nl Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly NOT_TRANSLATED +en Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers HP:0030130 IAO:0000115 nl Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers NOT_TRANSLATED +en Reduced ability to bring the leg toward the midline of the body HP:0033416 IAO:0000115 nl Reduced ability to bring the leg toward the midline of the body NOT_TRANSLATED +en Reduced ability to climb stairs HP:0003551 IAO:0000115 nl Reduced ability to climb stairs NOT_TRANSLATED +en Reduced ability to conduct a reciprocal (back and forth) conversation characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable HP:4000092 IAO:0000115 nl Reduced ability to conduct a reciprocal (back and forth) conversation characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable NOT_TRANSLATED +en Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve) HP:0012246 IAO:0000115 nl Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve) NOT_TRANSLATED +en Reduced ability to desscend stairs HP:0033235 IAO:0000115 nl Reduced ability to desscend stairs NOT_TRANSLATED +en Reduced ability to detect any qualitative olfactory sensation HP:0010634 IAO:0000115 nl Reduced ability to detect any qualitative olfactory sensation NOT_TRANSLATED +en Reduced ability to extend (straighten) the knee joint HP:0003066 IAO:0000115 nl Reduced ability to extend (straighten) the knee joint NOT_TRANSLATED +en Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion HP:0031177 IAO:0000115 nl Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion NOT_TRANSLATED +en Reduced ability to flex (bend) the knee joint HP:0006389 IAO:0000115 nl Reduced ability to flex (bend) the knee joint NOT_TRANSLATED +en Reduced ability to flex the femur, that is, to pull the knee upward HP:0012515 IAO:0000115 nl Reduced ability to flex the femur, that is, to pull the knee upward NOT_TRANSLATED +en Reduced ability to move the eye in the direction of the nose HP:0000542 IAO:0000115 nl Reduced ability to move the eye in the direction of the nose NOT_TRANSLATED +en Reduced ability to move the femur outward to the side HP:0003184 IAO:0000115 nl Reduced ability to move the femur outward to the side NOT_TRANSLATED +en Reduced ability to move the foot up toward the shin HP:0033526 IAO:0000115 nl Reduced ability to move the foot up toward the shin NOT_TRANSLATED +en Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion HP:0003306 IAO:0000115 nl Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion NOT_TRANSLATED +en Reduced ability to pass air through the nasal cavity often leading to mouth breathing HP:0001742 IAO:0000115 nl Reduced ability to pass air through the nasal cavity often leading to mouth breathing NOT_TRANSLATED +en Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) HP:0010635 IAO:0000115 nl Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants) NOT_TRANSLATED +en Reduced ability to perceive painful stimuli HP:0007328 IAO:0000115 nl Reduced ability to perceive painful stimuli NOT_TRANSLATED +en Reduced ability to run HP:0009046 IAO:0000115 nl Reduced ability to run NOT_TRANSLATED +en Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities HP:0003409 IAO:0000115 nl Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities NOT_TRANSLATED +en Reduced ability to transform factor X into its activated form factor Xa HP:0008354 IAO:0000115 nl Reduced ability to transform factor X into its activated form factor Xa NOT_TRANSLATED +en Reduced ability to turn the eyes inward in order to focus on a nearby object HP:0000619 IAO:0000115 nl Reduced ability to turn the eyes inward in order to focus on a nearby object NOT_TRANSLATED +en Reduced ability to walk (ambulate) HP:0002355 IAO:0000115 nl Reduced ability to walk (ambulate) NOT_TRANSLATED +en Reduced ability to walk (ambulate) in a backwards direction HP:0031847 IAO:0000115 nl Reduced ability to walk (ambulate) in a backwards direction NOT_TRANSLATED +en Reduced ability to walk in a straight line while placing the feet heel to toe HP:0031629 IAO:0000115 nl Reduced ability to walk in a straight line while placing the feet heel to toe NOT_TRANSLATED +en Reduced abilty to lower the chin towards the chest by bending the neck HP:0005991 IAO:0000115 nl Reduced abilty to lower the chin towards the chest by bending the neck NOT_TRANSLATED +en Reduced abilty to move the head back towards the ceiling so that one is looking upwards HP:0033453 IAO:0000115 nl Reduced abilty to move the head back towards the ceiling so that one is looking upwards NOT_TRANSLATED +en Reduced acetaldehyde dehydrogenase level HP:0003533 rdfs:label nl Vertraagde oxidatie van acetaldehyde CANDIDATE +en Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis HP:0040245 IAO:0000115 nl Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis NOT_TRANSLATED +en Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X HP:0008169 IAO:0000115 nl Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X NOT_TRANSLATED +en Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X HP:0003125 IAO:0000115 nl Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X NOT_TRANSLATED +en Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa) HP:0008321 IAO:0000115 nl Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa) NOT_TRANSLATED +en Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator HP:0040248 IAO:0000115 nl Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator NOT_TRANSLATED +en Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi HP:0033597 IAO:0000115 nl Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi NOT_TRANSLATED +en Reduced addition of mannose to N-linked glycans HP:0012356 IAO:0000115 nl Reduced addition of mannose to N-linked glycans NOT_TRANSLATED +en Reduced aldolase level HP:0012545 rdfs:label nl Verlaagd aldolase niveau CANDIDATE +en Reduced alpha-2-antiplasmin activity HP:0040245 rdfs:label nl Verminderd alfa-2-antiplasmine activiteit CANDIDATE +en Reduced alpha/beta synthesis ratio HP:0011907 rdfs:label nl Verminderde alfa/beta synthese ratio CANDIDATE +en Reduced amount of adipose tissue in the region of the neck HP:0005995 IAO:0000115 nl Reduced amount of adipose tissue in the region of the neck NOT_TRANSLATED +en Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue HP:0034369 IAO:0000115 nl Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue NOT_TRANSLATED +en Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis HP:0003429 IAO:0000115 nl Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis NOT_TRANSLATED +en Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system HP:0007182 IAO:0000115 nl Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system NOT_TRANSLATED +en Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system HP:0006808 IAO:0000115 nl Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system NOT_TRANSLATED +en Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis HP:0033846 IAO:0000115 nl Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis NOT_TRANSLATED +en Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency HP:0034469 IAO:0000115 nl Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency NOT_TRANSLATED +en Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells HP:0033278 IAO:0000115 nl Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells NOT_TRANSLATED +en Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland HP:0031098 IAO:0000115 nl Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland NOT_TRANSLATED +en Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm HP:0025077 IAO:0000115 nl Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm NOT_TRANSLATED +en Reduced amplitude of dark-adapted bright flash electroretinogram a-wave HP:0030483 rdfs:label nl Reduced amplitude of dark-adapted bright flash electroretinogram a-wave NOT_TRANSLATED +en Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) HP:0030851 IAO:0000115 nl Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure) NOT_TRANSLATED +en Reduced amygdala volume HP:0025444 rdfs:label nl Verminderd volume van amygdala CANDIDATE +en Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT) HP:0030329 IAO:0000115 nl Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT) NOT_TRANSLATED +en Reduced antigen-specific T cell proliferation HP:0031402 rdfs:label nl Reduced antigen-specific T cell proliferation NOT_TRANSLATED +en Reduced antithrombin III activity HP:0001976 rdfs:label nl Verminderde activiteit van antitrombine III CANDIDATE +en Reduced antithrombin antigen HP:0040246 rdfs:label nl Verminderd antitrombine antigeen CANDIDATE +en Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation HP:0040246 IAO:0000115 nl Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation NOT_TRANSLATED +en Reduced antral follicle count HP:0033085 rdfs:label nl Reduced antral follicle count NOT_TRANSLATED +en Reduced arm span HP:0012770 rdfs:label nl Verminderde spanwijdte CANDIDATE +en Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder HP:0000736 IAO:0000115 nl Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder NOT_TRANSLATED +en Reduced beta-hexosaminidase activity HP:0033978 rdfs:label nl Reduced beta-hexosaminidase activity NOT_TRANSLATED +en Reduced beta/alpha synthesis ratio HP:0011906 rdfs:label nl Verminderde beta/alfa synthese ratio CANDIDATE +en Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry HP:0031132 IAO:0000115 nl Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry NOT_TRANSLATED +en Reduced blood 5-methyltetrahydrofolate level HP:0410217 rdfs:label nl Reduced blood 5-methyltetrahydrofolate level NOT_TRANSLATED +en Reduced blood folate concentration HP:0100507 rdfs:label nl Foliumzuur deficiëntie CANDIDATE +en Reduced blood urea nitrogen HP:0031969 rdfs:label nl Reduced blood urea nitrogen NOT_TRANSLATED +en Reduced body temperature due to failed thermoregulation HP:0002045 IAO:0000115 nl Reduced body temperature due to failed thermoregulation NOT_TRANSLATED +en Reduced bone mineral density HP:0004349 rdfs:label nl Verminderde botdichtheid CANDIDATE +en Reduced bone mineral density of the femur HP:0031163 IAO:0000115 nl Reduced bone mineral density of the femur NOT_TRANSLATED +en Reduced bone-marrow pro-B cell count HP:0020048 rdfs:label nl Verminderd aantal beenmerg voorloper-B-cellen CANDIDATE +en Reduced brain N-acetyl aspartate level by MRS HP:0012708 rdfs:label nl Afgenomen brein N-acetylaspartaat niveau met MRS CANDIDATE +en Reduced brain choline level by MRS HP:0025048 rdfs:label nl Afgenomen brein choline niveau met MRS CANDIDATE +en Reduced brain creatine level by MRS HP:0025051 rdfs:label nl Afgenomen brein creatine niveau met MRS CANDIDATE +en Reduced brain gamma-aminobutyric acid level by MRS HP:0500021 rdfs:label nl Afgenomen brein gamma-aminoboterzuur niveau met MRS CANDIDATE +en Reduced brain glutamate level by MRS HP:0031161 rdfs:label nl Afgenomen brein glutamaat niveau met MRS CANDIDATE +en Reduced brain glutamine level by MRS HP:0030980 rdfs:label nl Afgenomen brein glutamine niveau met MRS CANDIDATE +en Reduced brain lactate level by MRS HP:0025046 rdfs:label nl Afgenomen brein lactaat niveau met MRS CANDIDATE +en Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope HP:0034362 IAO:0000115 nl Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope NOT_TRANSLATED +en Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure) HP:0010801 IAO:0000115 nl Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure) NOT_TRANSLATED +en Reduced carnitine O-palmitoyltransferase level HP:0012380 rdfs:label nl Reduced carnitine O-palmitoyltransferase level NOT_TRANSLATED +en Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine HP:0012380 IAO:0000115 nl Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine NOT_TRANSLATED +en Reduced catalase level HP:0012517 rdfs:label nl Verminderde katalase activiteit CANDIDATE +en Reduced cell surface marker level HP:0031551 rdfs:label nl Reduced cell surface marker level NOT_TRANSLATED +en Reduced cerebral white matter volume HP:0034295 rdfs:label nl Reduced cerebral white matter volume NOT_TRANSLATED +en Reduced cholinesterase level HP:0020175 rdfs:label nl Reduced cholinesterase level NOT_TRANSLATED +en Reduced circulating 3-ketoacyl-CoA thiolase concentration HP:0034407 rdfs:label nl Reduced circulating 3-ketoacyl-CoA thiolase concentration NOT_TRANSLATED +en Reduced circulating C-reactive protein concecntration HP:0032437 rdfs:label nl Reduced circulating C-reactive protein concecntration NOT_TRANSLATED +en Reduced circulating NT-proANP concentration HP:6000693 rdfs:label nl Verlaagde circulerende NT-proANP-concentratie OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Reduced circulating acylcarnitine concentration HP:0033445 rdfs:label nl Reduced circulating acylcarnitine concentration NOT_TRANSLATED +en Reduced circulating complement factor H related protein 1 concentration HP:0033299 rdfs:label nl Reduced circulating complement factor H related protein 1 concentration NOT_TRANSLATED +en Reduced circulating creatine concentration HP:0034292 rdfs:label nl Reduced circulating creatine concentration NOT_TRANSLATED +en Reduced circulating erythropoietin concentration HP:0034443 rdfs:label nl Reduced circulating erythropoietin concentration NOT_TRANSLATED +en Reduced circulating fibronectin level HP:0032463 rdfs:label nl Reduced circulating fibronectin level NOT_TRANSLATED +en Reduced circulating growth hormone concentration HP:0034323 rdfs:label nl Reduced circulating growth hormone concentration NOT_TRANSLATED +en Reduced circulating interferon gamma concentration HP:0033253 rdfs:label nl Reduced circulating interferon gamma concentration NOT_TRANSLATED +en Reduced circulating interleukin 10 concentration HP:0034163 rdfs:label nl Reduced circulating interleukin 10 concentration NOT_TRANSLATED +en Reduced circulating interleukin 17A concentration HP:0034177 rdfs:label nl Reduced circulating interleukin 17A concentration NOT_TRANSLATED +en Reduced circulating interleukin 21 concentration HP:0034165 rdfs:label nl Reduced circulating interleukin 21 concentration NOT_TRANSLATED +en Reduced circulating interleukin 22 concentration HP:0034168 rdfs:label nl Reduced circulating interleukin 22 concentration NOT_TRANSLATED +en Reduced circulating interleukin 23 concentration HP:0034171 rdfs:label nl Reduced circulating interleukin 23 concentration NOT_TRANSLATED +en Reduced circulating interleukin 27 concentration HP:0034174 rdfs:label nl Reduced circulating interleukin 27 concentration NOT_TRANSLATED +en Reduced circulating interleukin 7 concentration HP:0034486 rdfs:label nl Reduced circulating interleukin 7 concentration NOT_TRANSLATED +en Reduced circulating interleukin 9 concentration HP:0034161 rdfs:label nl Reduced circulating interleukin 9 concentration NOT_TRANSLATED +en Reduced circulating leukotriene C4 concentration HP:0030390 rdfs:label nl Afwijking van leukotriënen metabolisme CANDIDATE +en Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 HP:0034075 IAO:0000115 nl Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100 NOT_TRANSLATED +en Reduced circulating prekallikrein concentration HP:0034371 rdfs:label nl Reduced circulating prekallikrein concentration NOT_TRANSLATED +en Reduced circulating prolactin concentration HP:0008202 rdfs:label nl Prolactine-deficiëntie CANDIDATE +en Reduced circulating transferrin concentration HP:0032387 rdfs:label nl Reduced circulating transferrin concentration NOT_TRANSLATED +en Reduced circulating vitamin B6 level HP:0008326 rdfs:label nl Vitamine B6 deficiëntie CANDIDATE +en Reduced coagulation factor V activity HP:0003225 rdfs:label nl Verlaagde factor V activiteit CANDIDATE +en Reduced collaborative play HP:4000082 rdfs:label nl Reduced collaborative play NOT_TRANSLATED +en Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein) HP:0033459 IAO:0000115 nl Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein) NOT_TRANSLATED +en Reduced concentration of amyloid in the cerebrospinal fluid (CSF) HP:0030861 IAO:0000115 nl Reduced concentration of amyloid in the cerebrospinal fluid (CSF) NOT_TRANSLATED +en Reduced concentration of androstenedione in the blood circulation HP:0033812 IAO:0000115 nl Reduced concentration of androstenedione in the blood circulation NOT_TRANSLATED +en Reduced concentration of apolipoprotein C-II in the blood circulation HP:0033983 IAO:0000115 nl Reduced concentration of apolipoprotein C-II in the blood circulation NOT_TRANSLATED +en Reduced concentration of beta-2-microglobulin in the blood HP:0025347 IAO:0000115 nl Reduced concentration of beta-2-microglobulin in the blood NOT_TRANSLATED +en Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII HP:0034371 IAO:0000115 nl Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII NOT_TRANSLATED +en Reduced concentration of serine in the blood HP:0012279 IAO:0000115 nl Reduced concentration of serine in the blood NOT_TRANSLATED +en Reduced consciousness/confusion HP:0004372 rdfs:label nl Verminderd bewustzijn/verwarring CANDIDATE +en Reduced contraction of the left ventricular apex HP:0031483 rdfs:label nl Reduced contraction of the left ventricular apex NOT_TRANSLATED +en Reduced contrast sensitivity HP:0032036 rdfs:label nl Reduced contrast sensitivity NOT_TRANSLATED +en Reduced convexity of the occiput (posterior part of skull) HP:0005469 IAO:0000115 nl Reduced convexity of the occiput (posterior part of skull) NOT_TRANSLATED +en Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen HP:0000798 IAO:0000115 nl Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen NOT_TRANSLATED +en Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease HP:0031799 IAO:0000115 nl Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease NOT_TRANSLATED +en Reduced delayed hypersensitivity HP:0002972 rdfs:label nl Verminderde vertraagde overgevoeligheid CANDIDATE +en Reduced density of hairs HP:0008070 IAO:0000115 nl Reduced density of hairs NOT_TRANSLATED +en Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased HP:0000594 IAO:0000115 nl Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased NOT_TRANSLATED +en Reduced depth of the orbits associated with prominent-appearing ocular globes HP:0000586 IAO:0000115 nl Reduced depth of the orbits associated with prominent-appearing ocular globes NOT_TRANSLATED +en Reduced desire for sexual activity on the part of a male HP:0040306 IAO:0000115 nl Reduced desire for sexual activity on the part of a male NOT_TRANSLATED +en Reduced diameter of a long bone HP:0003100 IAO:0000115 nl Reduced diameter of a long bone NOT_TRANSLATED +en Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones HP:0004993 IAO:0000115 nl Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones NOT_TRANSLATED +en Reduced diameter of the distal phalanx of finger HP:0012296 IAO:0000115 nl Reduced diameter of the distal phalanx of finger NOT_TRANSLATED +en Reduced diameter of the middle phalanx of finger HP:0012295 IAO:0000115 nl Reduced diameter of the middle phalanx of finger NOT_TRANSLATED +en Reduced diameter of the proximal phalanx of finger HP:0012297 IAO:0000115 nl Reduced diameter of the proximal phalanx of finger NOT_TRANSLATED +en Reduced differentiation between renal cortex and medulla on diagnostic imaging HP:0005565 IAO:0000115 nl Reduced differentiation between renal cortex and medulla on diagnostic imaging NOT_TRANSLATED +en Reduced dihydropyrimidine dehydrogenase level HP:0003654 rdfs:label nl Verminderde dihydropyrimidine dehydrogenase activiteit CANDIDATE +en Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans HP:0025327 IAO:0000115 nl Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans NOT_TRANSLATED +en Reduced distance from the anterior border of the naris to the subnasale HP:0002000 IAO:0000115 nl Reduced distance from the anterior border of the naris to the subnasale NOT_TRANSLATED +en Reduced drug efficacy HP:0020173 rdfs:label nl Reduced drug efficacy NOT_TRANSLATED +en Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device HP:0031143 IAO:0000115 nl Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device NOT_TRANSLATED +en Reduced enzyme of acid sphingomyelinase activity in the blood circulation HP:0034300 IAO:0000115 nl Reduced enzyme of acid sphingomyelinase activity in the blood circulation NOT_TRANSLATED +en Reduced erythrocyte 2,3-diphosphoglycerate concentration HP:0030271 rdfs:label nl Reduced erythrocyte 2,3-diphosphoglycerate concentration NOT_TRANSLATED +en Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity HP:4000208 rdfs:label nl Verminderde activiteit erytrocyt galactose-1-fosfaat-uridylyltransferase OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Reduced erythrocyte inosine triphosphatase activity HP:6000511 rdfs:label nl Verminderde erytrocyt inosinetrifosfatase activiteit OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Reduced erythrocyte porphobilinogen deaminase activity HP:4000199 rdfs:label nl Verminderde erytrocyt porphobilinogen deaminase activiteit OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Reduced euglobulin clot lysis time HP:0040247 rdfs:label nl Reduced euglobulin clot lysis time NOT_TRANSLATED +en Reduced factor IX activity HP:0011858 rdfs:label nl Verminderde activiteit van factor IX CANDIDATE +en Reduced factor VII activity HP:0008169 rdfs:label nl Verminderde activiteit van factor VII CANDIDATE +en Reduced factor VIII activity HP:0003125 rdfs:label nl Verminderde activiteit van factor VIII CANDIDATE +en Reduced factor X activity HP:0008321 rdfs:label nl Verminderde activiteit van factor X CANDIDATE +en Reduced factor XI activity HP:0001929 rdfs:label nl Verminderde activiteit van factor XI CANDIDATE +en Reduced factor XII activity HP:0004841 rdfs:label nl Verminderde activiteit van factor XII CANDIDATE +en Reduced factor XIII activity HP:0008357 rdfs:label nl Verminderde activiteit van factor XIII CANDIDATE +en Reduced fecal osmolality HP:0032487 rdfs:label nl Reduced fecal osmolality NOT_TRANSLATED +en Reduced fetal femur/foot length ratio HP:0025663 rdfs:label nl Reduced fetal femur/foot length ratio NOT_TRANSLATED +en Reduced fetal long bone echogenicity HP:0034073 rdfs:label nl Reduced fetal long bone echogenicity NOT_TRANSLATED +en Reduced fibroblast CD16 level HP:0031559 rdfs:label nl Verminderd fibroblast CD16 niveau CANDIDATE +en Reduced fibroblast CD55 level HP:0031557 rdfs:label nl Verminderd fibroblast CD55 niveau CANDIDATE +en Reduced fibroblast CD59 level HP:0031558 rdfs:label nl Verminderd fibroblast CD59 niveau CANDIDATE +en Reduced fibroblast surface marker level HP:0031552 rdfs:label nl Afwijkend fibroblast oppervlakte marker niveau CANDIDATE +en Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake HP:0025382 IAO:0000115 nl Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake NOT_TRANSLATED +en Reduced forced expiratory volume in one second HP:0032342 rdfs:label nl Reduced forced expiratory volume in one second NOT_TRANSLATED +en Reduced forced vital capacity HP:0032341 rdfs:label nl Reduced forced vital capacity NOT_TRANSLATED +en Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay HP:0000815 IAO:0000115 nl Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay NOT_TRANSLATED +en Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles HP:0004347 IAO:0000115 nl Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles NOT_TRANSLATED +en Reduced functional residual capacity HP:0033750 rdfs:label nl Reduced functional residual capacity NOT_TRANSLATED +en Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity HP:0005357 IAO:0000115 nl Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity NOT_TRANSLATED +en Reduced functioning of the vestibular apparatus HP:0001756 IAO:0000115 nl Reduced functioning of the vestibular apparatus NOT_TRANSLATED +en Reduced galactocerebrosidase activity HP:0034322 rdfs:label nl Reduced galactocerebrosidase activity NOT_TRANSLATED +en Reduced gamma-glutamyltransferase level HP:0034445 rdfs:label nl Reduced gamma-glutamyltransferase level NOT_TRANSLATED +en Reduced glutathione synthetase level HP:0003343 rdfs:label nl Glutathion synthetase deficiëntie CANDIDATE +en Reduced granulocyte CD16 level HP:0031556 rdfs:label nl Verminderd granulocyt CD16 niveau CANDIDATE +en Reduced granulocyte CD18 level HP:0032455 rdfs:label nl Reduced granulocyte CD18 level NOT_TRANSLATED +en Reduced granulocyte CD55 level HP:0031554 rdfs:label nl Afwijkend granulocyt CD55 niveau CANDIDATE +en Reduced granulocyte CD59 level HP:0031555 rdfs:label nl Verminderd granulocyt CD59 niveau CANDIDATE +en Reduced granulocyte surface marker level HP:0031553 rdfs:label nl Afwijkend granulocyt oppervlakte marker niveau CANDIDATE +en Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand HP:0033466 IAO:0000115 nl Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand NOT_TRANSLATED +en Reduced growth-hormone binding protein level HP:0031036 rdfs:label nl Afgenomen groeihormoon bindend eiwit niveau CANDIDATE +en Reduced hair sulfur content HP:0034425 rdfs:label nl Reduced hair sulfur content NOT_TRANSLATED +en Reduced haptoglobin level HP:0020181 rdfs:label nl Reduced haptoglobin level NOT_TRANSLATED +en Reduced hematocrit HP:0031851 rdfs:label nl Reduced hematocrit NOT_TRANSLATED +en Reduced hemoglobin A HP:0011905 rdfs:label nl Verlaagd hemoglobine A CANDIDATE +en Reduced hemolytic complement activity HP:0025434 rdfs:label nl Verminderde hemolytische complement activiteit CANDIDATE +en Reduced hypoxanthine-guanine phosphoribosyltransferase level HP:0031823 rdfs:label nl Reduced hypoxanthine-guanine phosphoribosyltransferase level NOT_TRANSLATED +en Reduced inferior to superior extent of the thorax HP:0010306 IAO:0000115 nl Reduced inferior to superior extent of the thorax NOT_TRANSLATED +en Reduced insulin like growth factor binding protein acid labile subunit concentration HP:0045046 rdfs:label nl Reduced insulin like growth factor binding protein acid labile subunit concentration NOT_TRANSLATED +en Reduced insulin-like factor 3 level HP:0031037 rdfs:label nl Afgenomen insuline-like factor 3 niveau CANDIDATE +en Reduced intensity (volume) of speech HP:0001621 IAO:0000115 nl Reduced intensity (volume) of speech NOT_TRANSLATED +en Reduced intensity of muscle tendon reflexes in jaw HP:0012392 IAO:0000115 nl Reduced intensity of muscle tendon reflexes in jaw NOT_TRANSLATED +en Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping HP:0002600 IAO:0000115 nl Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping NOT_TRANSLATED +en Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping HP:0012391 IAO:0000115 nl Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping NOT_TRANSLATED +en Reduced intensity of the biceps tendon reflex HP:0033201 IAO:0000115 nl Reduced intensity of the biceps tendon reflex NOT_TRANSLATED +en Reduced intensity of the brachioradialis tendon reflex HP:0033202 IAO:0000115 nl Reduced intensity of the brachioradialis tendon reflex NOT_TRANSLATED +en Reduced intensity of the triceps tendon reflex HP:0033200 IAO:0000115 nl Reduced intensity of the triceps tendon reflex NOT_TRANSLATED +en Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance HP:0005973 IAO:0000115 nl Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance NOT_TRANSLATED +en Reduced intraabdominal adipose tissue HP:0025128 rdfs:label nl Verminderd intra-abdominaal vetweefsel CANDIDATE +en Reduced intrathoracic adipose tissue HP:0003809 rdfs:label nl Verminderd intrathoracaal vetweefsel CANDIDATE +en Reduced isohemagglutinin level HP:0032139 rdfs:label nl Reduced isohemagglutinin level NOT_TRANSLATED +en Reduced kininogen activity HP:0005527 rdfs:label nl Verlaagde kininogeen activiteit CANDIDATE +en Reduced lactate dehydrogenase B level HP:0045041 rdfs:label nl Verminderde lactaatdehydrogenase B activiteit CANDIDATE +en Reduced left ventricular ejection fraction HP:0012664 rdfs:label nl Verminderde ejectiefractie CANDIDATE +en Reduced left ventricular endsystolic diameter HP:0034386 rdfs:label nl Reduced left ventricular endsystolic diameter NOT_TRANSLATED +en Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia HP:0010431 IAO:0000115 nl Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia NOT_TRANSLATED +en Reduced length of the clavicles HP:0000894 IAO:0000115 nl Reduced length of the clavicles NOT_TRANSLATED +en Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia HP:0010433 IAO:0000115 nl Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia NOT_TRANSLATED +en Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia HP:0010435 IAO:0000115 nl Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia NOT_TRANSLATED +en Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia HP:0010437 IAO:0000115 nl Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia NOT_TRANSLATED +en Reduced leukocyte alkaline phosphatase HP:0004852 rdfs:label nl Verminderde alkalisch fosfatase van de leukocyten CANDIDATE +en Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry HP:0031559 IAO:0000115 nl Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry HP:0031556 IAO:0000115 nl Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry HP:0032455 IAO:0000115 nl Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry NOT_TRANSLATED +en Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry HP:0031557 IAO:0000115 nl Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry HP:0031554 IAO:0000115 nl Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry HP:0031558 IAO:0000115 nl Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry HP:0031555 IAO:0000115 nl Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of N-acetylglucosaminyltransferase II HP:0003655 rdfs:label nl Verminderde activiteit van N-acetylglucosaminyltransferase II CANDIDATE +en Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells HP:0031545 IAO:0000115 nl Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells NOT_TRANSLATED +en Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry HP:0031551 IAO:0000115 nl Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry HP:0031552 IAO:0000115 nl Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry HP:0031553 IAO:0000115 nl Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry NOT_TRANSLATED +en Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure HP:0033036 IAO:0000115 nl Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure NOT_TRANSLATED +en Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9 HP:0033057 IAO:0000115 nl Reduced level of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9 NOT_TRANSLATED +en Reduced level of plasminogen activator inhibitor 1 antigen HP:0040249 IAO:0000115 nl Reduced level of plasminogen activator inhibitor 1 antigen NOT_TRANSLATED +en Reduced level of platelet-activating factor acetylhydrolase HP:0040175 IAO:0000115 nl Reduced level of platelet-activating factor acetylhydrolase NOT_TRANSLATED +en Reduced level of succinic semialdehyde dehydrogenase (SSADH) HP:0032530 IAO:0000115 nl Reduced level of succinic semialdehyde dehydrogenase (SSADH) NOT_TRANSLATED +en Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve HP:0033383 IAO:0000115 nl Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve NOT_TRANSLATED +en Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose HP:0003656 IAO:0000115 nl Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose NOT_TRANSLATED +en Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline HP:0003343 IAO:0000115 nl Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline NOT_TRANSLATED +en Reduced level of the enzyme lecithin cholesterol acyl transferase HP:0025433 IAO:0000115 nl Reduced level of the enzyme lecithin cholesterol acyl transferase NOT_TRANSLATED +en Reduced lymphocyte surface expression of CD43 HP:0001983 rdfs:label nl Verminderde lymfocyten oppervlakte expressie van CD43 CANDIDATE +en Reduced lysosomal acid lipase activity HP:0031205 rdfs:label nl Verminderde lysosomale zure lipase activiteit CANDIDATE +en Reduced maximal expiratory pressure HP:0012497 rdfs:label nl Verminderde maximale expiratoire druk CANDIDATE +en Reduced maximal inspiratory pressure HP:0012496 rdfs:label nl Verminderde maximale inspiratoire druk CANDIDATE +en Reduced mevalonate kinase activity HP:0033168 rdfs:label nl Reduced mevalonate kinase activity NOT_TRANSLATED +en Reduced motility of the gallbladder with reduced emptying fraction HP:0012442 IAO:0000115 nl Reduced motility of the gallbladder with reduced emptying fraction NOT_TRANSLATED +en Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum HP:0012441 IAO:0000115 nl Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum NOT_TRANSLATED +en Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy HP:0031742 IAO:0000115 nl Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED +en Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy HP:0031751 IAO:0000115 nl Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED +en Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy HP:0031756 IAO:0000115 nl Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED +en Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy HP:0031747 IAO:0000115 nl Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED +en Reduced muscle aconitase activity HP:0034511 rdfs:label nl Reduced muscle aconitase activity NOT_TRANSLATED +en Reduced muscle carnitine level HP:0030362 rdfs:label nl Verminderd spier carnitine niveau CANDIDATE +en Reduced muscle collagen VI HP:0030095 rdfs:label nl Verminderd spier collageen VI CANDIDATE +en Reduced muscle dystrophin expression HP:0030098 rdfs:label nl Verminderde spier dystrofine expressie CANDIDATE +en Reduced muscle fiber alpha dystroglycan HP:0030099 rdfs:label nl Verminderde spiervezel alfa-dystroglycaan CANDIDATE +en Reduced muscle fiber alpha sarcoglycan HP:0030102 rdfs:label nl Verminderd spiervezel alfa-sarcoglycaan CANDIDATE +en Reduced muscle fiber beta sarcoglycan HP:0030107 rdfs:label nl Verminderd spiervezel beta-sarcoglycaan CANDIDATE +en Reduced muscle fiber calpain-3 HP:0030121 rdfs:label nl Gereduceerd spiervezel calpaïne-3 CANDIDATE +en Reduced muscle fiber delta sarcoglycan HP:0030111 rdfs:label nl Verminderd spiervezel delta-sarcoglycaan CANDIDATE +en Reduced muscle fiber dysferlin HP:0030115 rdfs:label nl Verminderd spiervezel dysferline CANDIDATE +en Reduced muscle fiber emerin HP:0030118 rdfs:label nl Verminderd spiervezel emerine CANDIDATE +en Reduced muscle fiber gamma sarcoglycan HP:0030108 rdfs:label nl Verminderd spiervezel gamma-sarcoglycaan CANDIDATE +en Reduced muscle fiber lamin A/C HP:0030124 rdfs:label nl Gereduceerd spiervezel laminine beta CANDIDATE +en Reduced muscle fiber laminin beta 1 HP:0030094 rdfs:label nl Verminderd spiervezel laminine beta 1 CANDIDATE +en Reduced muscle fiber merosin HP:0030092 rdfs:label nl Verminderde spiervezel merosine CANDIDATE +en Reduced muscle fiber perlecan HP:0030122 rdfs:label nl Verminderd spiervezel perlecan CANDIDATE +en Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence HP:0010487 IAO:0000115 nl Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence NOT_TRANSLATED +en Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve) HP:0000297 IAO:0000115 nl Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED +en Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior HP:0030190 IAO:0000115 nl Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior NOT_TRANSLATED +en Reduced natural killer cell activity HP:0012178 rdfs:label nl Verminderde natural killer cel activiteit CANDIDATE +en Reduced natural killer cell count HP:0040218 rdfs:label nl Verminderd aantal natural killer cellen CANDIDATE +en Reduced number of beta cells in the pancreatic islets of Langerhans HP:0006274 IAO:0000115 nl Reduced number of beta cells in the pancreatic islets of Langerhans NOT_TRANSLATED +en Reduced number of corneal endothelial cells HP:0011491 rdfs:label nl Verminderd aantal corneale endotheliale cellen CANDIDATE +en Reduced number of intrahepatic bile ducts HP:0006571 rdfs:label nl Verminderd aantal intrahepatische galggangen CANDIDATE +en Reduced number of primary teeth HP:0012225 IAO:0000115 nl Reduced number of primary teeth NOT_TRANSLATED +en Reduced number or density of axillary hair HP:0002215 IAO:0000115 nl Reduced number or density of axillary hair NOT_TRANSLATED +en Reduced number or density of facial hair HP:0007464 IAO:0000115 nl Reduced number or density of facial hair NOT_TRANSLATED +en Reduced number or density of pubic hair HP:0002225 IAO:0000115 nl Reduced number or density of pubic hair NOT_TRANSLATED +en Reduced object sharing HP:4000085 rdfs:label nl Reduced object sharing NOT_TRANSLATED +en Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy HP:0031741 IAO:0000115 nl Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED +en Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy HP:0025595 IAO:0000115 nl Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy NOT_TRANSLATED +en Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR) HP:0031268 IAO:0000115 nl Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR) NOT_TRANSLATED +en Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus HP:0031857 IAO:0000115 nl Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus NOT_TRANSLATED +en Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract HP:0100771 IAO:0000115 nl Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract NOT_TRANSLATED +en Reduced or lacking hair growth in a generalized distribution HP:0004528 IAO:0000115 nl Reduced or lacking hair growth in a generalized distribution NOT_TRANSLATED +en Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull) HP:0004524 IAO:0000115 nl Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull) NOT_TRANSLATED +en Reduced orotidine 5-prime phosphate decarboxylase level HP:0003267 rdfs:label nl Verminderde orotidine 5'-fosfaat- decarboxylase activiteit CANDIDATE +en Reduced pancreatic beta cells HP:0006274 rdfs:label nl Verminderde pancreatische beta cellen CANDIDATE +en Reduced phenylalanine hydroxylase level HP:0005982 rdfs:label nl Verminderde fenylalanine hydroxylase activiteit CANDIDATE +en Reduced pigmentation of hair diffusely HP:0011358 IAO:0000115 nl Reduced pigmentation of hair diffusely NOT_TRANSLATED +en Reduced pigmentation of hair in patches HP:0011365 IAO:0000115 nl Reduced pigmentation of hair in patches NOT_TRANSLATED +en Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) HP:0007894 IAO:0000115 nl Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid) NOT_TRANSLATED +en Reduced plasma cell count HP:0025618 rdfs:label nl Reduced plasma cell count NOT_TRANSLATED +en Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins HP:0031242 IAO:0000115 nl Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins NOT_TRANSLATED +en Reduced plasminogen activator inhibitor 1 activity HP:0040248 rdfs:label nl Verminderde plasminogeenactivator-inhibitor type 1 activiteit CANDIDATE +en Reduced plasminogen activator inhibitor 1 antigen HP:0040249 rdfs:label nl Verminderde plasminogeenactivator-inhibitor type 1 antigeen CANDIDATE +en Reduced platelet alpha granules HP:0033536 rdfs:label nl Reduced platelet alpha granules NOT_TRANSLATED +en Reduced platelet count that occurs sporadically, i.e., it comes and goes HP:0004854 IAO:0000115 nl Reduced platelet count that occurs sporadically, i.e., it comes and goes NOT_TRANSLATED +en Reduced platelet dense granules HP:0033535 rdfs:label nl Reduced platelet dense granules NOT_TRANSLATED +en Reduced production of facial expressions HP:4000075 rdfs:label nl Reduced production of facial expressions NOT_TRANSLATED +en Reduced progressive sperm motility HP:0034011 rdfs:label nl Reduced progressive sperm motility NOT_TRANSLATED +en Reduced proportion of CD4+ effector memory T cells HP:0025624 rdfs:label nl Reduced proportion of CD4+ effector memory T cells NOT_TRANSLATED +en Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells HP:0031401 rdfs:label nl Gereduceerd aantal CD4-negatieve, CD8-negatieve, alpha-beta regulatoire T-cellen CANDIDATE +en Reduced proportion of helper T cells relative to the total number of T cells HP:0008165 IAO:0000115 nl Reduced proportion of helper T cells relative to the total number of T cells NOT_TRANSLATED +en Reduced proportion of mucosal-associated invariant T cells HP:4000039 rdfs:label nl Reduced proportion of mucosal-associated invariant T cells NOT_TRANSLATED +en Reduced protein C activity HP:0005543 rdfs:label nl Verminderde proteïne C activiteit CANDIDATE +en Reduced protein S activity HP:0004855 rdfs:label nl Verminderde proteïne S activiteit CANDIDATE +en Reduced prothrombin antigen HP:0040250 rdfs:label nl Verminderd protrombine antigeen CANDIDATE +en Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin HP:0040250 IAO:0000115 nl Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin NOT_TRANSLATED +en Reduced prothrombin consumption HP:0003337 rdfs:label nl Verminderde protrombine consumptie CANDIDATE +en Reduced proximal interphalangeal joint space HP:0006019 rdfs:label nl Vernauwde proximale interfalangeale gewrichtsspleet CANDIDATE +en Reduced quantity of Von Willebrand factor HP:0012147 rdfs:label nl Verminderde hoeveelheid Von Willebrand-factor CANDIDATE +en Reduced radioactive iodine uptake HP:0031219 rdfs:label nl Verminderde radioactief jodium opname CANDIDATE +en Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder HP:0033481 IAO:0000115 nl Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder NOT_TRANSLATED +en Reduced range of motion turning the head side to side HP:0033357 IAO:0000115 nl Reduced range of motion turning the head side to side NOT_TRANSLATED +en Reduced ratio of renal calcium clearance to creatinine clearance HP:0003513 rdfs:label nl Verminderde van renale calcium klaring in verhouding tot de creatinineklaring CANDIDATE +en Reduced reactive oxygen species production in neutrophils HP:0025632 rdfs:label nl Reduced reactive oxygen species production in neutrophils NOT_TRANSLATED +en Reduced red cell adenosine deaminase level HP:0030273 rdfs:label nl Verminderde rode cel adenosine deaminase activiteit CANDIDATE +en Reduced red cell pyruvate kinase level HP:0025109 rdfs:label nl Verminderde rode cel pyruvaat kinaseactiviteit CANDIDATE +en Reduced renal corticomedullary differentiation HP:0005565 rdfs:label nl Verminderde renale corticomedullaire differentiatie CANDIDATE +en Reduced residual volume HP:0033753 rdfs:label nl Reduced residual volume NOT_TRANSLATED +en Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises) HP:0025017 IAO:0000115 nl Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises) NOT_TRANSLATED +en Reduced respiratory ciliary beating frequency HP:0033158 rdfs:label nl Reduced respiratory ciliary beating frequency NOT_TRANSLATED +en Reduced response to gonadotropin-releasing hormone stimulation test HP:0020159 rdfs:label nl Reduced response to gonadotropin-releasing hormone stimulation test NOT_TRANSLATED +en Reduced rib length HP:0000773 IAO:0000115 nl Reduced rib length NOT_TRANSLATED +en Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone HP:0002930 IAO:0000115 nl Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone NOT_TRANSLATED +en Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH) HP:0011789 IAO:0000115 nl Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH) NOT_TRANSLATED +en Reduced serum alpha-1-antitrypsin HP:0032025 rdfs:label nl Reduced serum alpha-1-antitrypsin NOT_TRANSLATED +en Reduced sex -hormone binding protein level HP:0031419 rdfs:label nl Verminderd sexhormoon bindend globuline niveau CANDIDATE +en Reduced sharing of interests HP:4000084 rdfs:label nl Reduced sharing of interests NOT_TRANSLATED +en Reduced side to side width of the pelvis HP:0003275 IAO:0000115 nl Reduced side to side width of the pelvis NOT_TRANSLATED +en Reduced size of cervical vertebrae HP:0004629 IAO:0000115 nl Reduced size of cervical vertebrae NOT_TRANSLATED +en Reduced size of the Distal epiphysis of femur HP:0012283 IAO:0000115 nl Reduced size of the Distal epiphysis of femur NOT_TRANSLATED +en Reduced size of the cerebellar cortex HP:0031423 IAO:0000115 nl Reduced size of the cerebellar cortex NOT_TRANSLATED +en Reduced size of the cerebral cortex HP:0002472 IAO:0000115 nl Reduced size of the cerebral cortex NOT_TRANSLATED +en Reduced size of the placenta HP:0006266 IAO:0000115 nl Reduced size of the placenta NOT_TRANSLATED +en Reduced size of the proximal epiphysis of the tibia HP:0012284 IAO:0000115 nl Reduced size of the proximal epiphysis of the tibia NOT_TRANSLATED +en Reduced size of the superior frontal portion of the cerebral cortex HP:0031421 IAO:0000115 nl Reduced size of the superior frontal portion of the cerebral cortex NOT_TRANSLATED +en Reduced speed of conduction of the action potential along a sensory nerve HP:0003448 IAO:0000115 nl Reduced speed of conduction of the action potential along a sensory nerve NOT_TRANSLATED +en Reduced sperm motility HP:0012207 rdfs:label nl Verminderde sperma motiliteit CANDIDATE +en Reduced strength and weakness of the muscles of the arms and legs HP:0003690 IAO:0000115 nl Reduced strength and weakness of the muscles of the arms and legs NOT_TRANSLATED +en Reduced strength of muscles HP:0001324 IAO:0000115 nl Reduced strength of muscles NOT_TRANSLATED +en Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve) HP:0030319 IAO:0000115 nl Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED +en Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs) HP:0003327 IAO:0000115 nl Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs) NOT_TRANSLATED +en Reduced strength of the distal musculature of the arms HP:0008959 IAO:0000115 nl Reduced strength of the distal musculature of the arms NOT_TRANSLATED +en Reduced strength of the distal musculature of the legs HP:0009053 IAO:0000115 nl Reduced strength of the distal musculature of the legs NOT_TRANSLATED +en Reduced strength of the frontalis muscle (which is located on the forehead) HP:0004661 IAO:0000115 nl Reduced strength of the frontalis muscle (which is located on the forehead) NOT_TRANSLATED +en Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw HP:0032520 IAO:0000115 nl Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw NOT_TRANSLATED +en Reduced strength of the muscles that lift or otherwise move the foot at the ankle HP:0031374 IAO:0000115 nl Reduced strength of the muscles that lift or otherwise move the foot at the ankle NOT_TRANSLATED +en Reduced strength of the musculature of the distal extremities HP:0002460 IAO:0000115 nl Reduced strength of the musculature of the distal extremities NOT_TRANSLATED +en Reduced strength of the musculature of the hand HP:0030237 IAO:0000115 nl Reduced strength of the musculature of the hand NOT_TRANSLATED +en Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid HP:0012507 IAO:0000115 nl Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid NOT_TRANSLATED +en Reduced subcutaneous adipose tissue HP:0003758 rdfs:label nl Verminderd subcutaan vetweefsel CANDIDATE +en Reduced superior to inferior length of the nasal septum HP:0000420 IAO:0000115 nl Reduced superior to inferior length of the nasal septum NOT_TRANSLATED +en Reduced systolic function HP:0006673 rdfs:label nl Verminderde systolische functie CANDIDATE +en Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration HP:0005947 IAO:0000115 nl Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration NOT_TRANSLATED +en Reduced tendon reflexes HP:0001315 rdfs:label nl Verminderde pees-reflexen CANDIDATE +en Reduced terminal:vellus ratio HP:0032497 rdfs:label nl Reduced terminal:vellus ratio NOT_TRANSLATED +en Reduced thickness of the outer, dense layer of the myocardium HP:0031196 IAO:0000115 nl Reduced thickness of the outer, dense layer of the myocardium NOT_TRANSLATED +en Reduced thickness of the zona pellucida HP:0020157 IAO:0000115 nl Reduced thickness of the zona pellucida NOT_TRANSLATED +en Reduced thyroxin-binding globulin HP:0012509 rdfs:label nl Verminderd thyroxine bindend globuline CANDIDATE +en Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long HP:0005165 IAO:0000115 nl Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long NOT_TRANSLATED +en Reduced total lung capacity HP:0033169 rdfs:label nl Reduced total lung capacity NOT_TRANSLATED +en Reduced transparency of the central portion of the corneal stroma HP:0011493 IAO:0000115 nl Reduced transparency of the central portion of the corneal stroma NOT_TRANSLATED +en Reduced transparency of the central posterior portion of the corneal stroma HP:0008511 IAO:0000115 nl Reduced transparency of the central posterior portion of the corneal stroma NOT_TRANSLATED +en Reduced transparency of the peripheral region of the cornea HP:0008011 IAO:0000115 nl Reduced transparency of the peripheral region of the cornea NOT_TRANSLATED +en Reduced transparency of the stroma of cornea HP:0007759 IAO:0000115 nl Reduced transparency of the stroma of cornea NOT_TRANSLATED +en Reduced upper to lower segment ratio HP:0012773 rdfs:label nl Afgenomen upper-to-lower segment ratio CANDIDATE +en Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan HP:0012661 IAO:0000115 nl Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED +en Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan HP:0012662 IAO:0000115 nl Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED +en Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan HP:0012659 IAO:0000115 nl Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED +en Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan HP:0012660 IAO:0000115 nl Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan NOT_TRANSLATED +en Reduced urinary inosine level HP:0033159 rdfs:label nl Reduced urinary inosine level NOT_TRANSLATED +en Reduced use of typical gestures HP:4000081 rdfs:label nl Reduced use of typical gestures NOT_TRANSLATED +en Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle HP:0031861 IAO:0000115 nl Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle NOT_TRANSLATED +en Reduced velocity and acceleration in the pupillary light response HP:0030211 IAO:0000115 nl Reduced velocity and acceleration in the pupillary light response NOT_TRANSLATED +en Reduced visual accommodation HP:0030801 rdfs:label nl Verminderde visuele accommodatie CANDIDATE +en Reduced visual acuity HP:0007663 rdfs:label nl Verminderde visus CANDIDATE +en Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways HP:0000646 IAO:0000115 nl Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways NOT_TRANSLATED +en Reduced vital capacity HP:0002792 rdfs:label nl Verminderde vitale capaciteit CANDIDATE +en Reduced volume of central subdivision of bed nucleus of stria terminalis HP:0030797 rdfs:label nl Reduced volume of central subdivision of bed nucleus of stria terminalis NOT_TRANSLATED +en Reduced volume of pars compacta of the substantia nigra HP:0034316 IAO:0000115 nl Reduced volume of pars compacta of the substantia nigra NOT_TRANSLATED +en Reduced volume of the earlobe HP:0000385 IAO:0000115 nl Reduced volume of the earlobe NOT_TRANSLATED +en Reduced volume of the testicle (the male gonad) HP:0008734 IAO:0000115 nl Reduced volume of the testicle (the male gonad) NOT_TRANSLATED +en Reduced von Willebrand factor activity HP:0008330 rdfs:label nl Verminderde von Willebrand factor activiteit CANDIDATE +en Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography HP:0031483 IAO:0000115 nl Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography NOT_TRANSLATED +en Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder HP:0000774 IAO:0000115 nl Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder NOT_TRANSLATED +en Reduced width of the cross sectional diameter of the fibula HP:0031107 IAO:0000115 nl Reduced width of the cross sectional diameter of the fibula NOT_TRANSLATED +en Reduced xanthine dehydrogenase level HP:0003534 rdfs:label nl Verminderde xanthine dehydrogenase activiteit CANDIDATE +en Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones HP:0008076 IAO:0000115 nl Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones NOT_TRANSLATED +en Reduction in density of metaphyseal bony tissue HP:0004980 IAO:0000115 nl Reduction in density of metaphyseal bony tissue NOT_TRANSLATED +en Reduction in diameter of the humerus HP:0003882 IAO:0000115 nl Reduction in diameter of the humerus NOT_TRANSLATED +en Reduction in diameter of the internal auditory canal HP:0011386 IAO:0000115 nl Reduction in diameter of the internal auditory canal NOT_TRANSLATED +en Reduction in diameter of the ulna HP:0003992 IAO:0000115 nl Reduction in diameter of the ulna NOT_TRANSLATED +en Reduction in length of the ventral (lower) skin of prepuce of penis HP:0012435 IAO:0000115 nl Reduction in length of the ventral (lower) skin of prepuce of penis NOT_TRANSLATED +en Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins HP:0031205 IAO:0000115 nl Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins NOT_TRANSLATED +en Reduction in the amount of blood flow to the iris HP:0012635 IAO:0000115 nl Reduction in the amount of blood flow to the iris NOT_TRANSLATED +en Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade HP:0005527 IAO:0000115 nl Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade NOT_TRANSLATED +en Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix HP:0011251 IAO:0000115 nl Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix NOT_TRANSLATED +en Reduction in the concentration of albumin in the blood HP:0003073 IAO:0000115 nl Reduction in the concentration of albumin in the blood NOT_TRANSLATED +en Reduction in the level of lipoprotein lipase in the blood HP:0031209 IAO:0000115 nl Reduction in the level of lipoprotein lipase in the blood NOT_TRANSLATED +en Reduction in the size or volume of epiphyses HP:0010585 IAO:0000115 nl Reduction in the size or volume of epiphyses NOT_TRANSLATED +en Reduction in the vertical distance between the upper and lower eyelids HP:0045025 IAO:0000115 nl Reduction in the vertical distance between the upper and lower eyelids NOT_TRANSLATED +en Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin HP:0000963 IAO:0000115 nl Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin NOT_TRANSLATED +en Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example) HP:0030216 IAO:0000115 nl Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example) NOT_TRANSLATED +en Reduction of neurologic reflexes such as the knee-jerk reaction HP:0001265 IAO:0000115 nl Reduction of neurologic reflexes such as the knee-jerk reaction NOT_TRANSLATED +en Reduction of neutrophil motility HP:0005400 rdfs:label nl Reductie van neutrofiel motiliteit CANDIDATE +en Reduction of oligodendroglia HP:0100709 rdfs:label nl Reductie van oligodendrocyten CANDIDATE +en Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45 HP:0005181 IAO:0000115 nl Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45 NOT_TRANSLATED +en Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia HP:0001677 IAO:0000115 nl Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia NOT_TRANSLATED +en Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children HP:0033449 IAO:0000115 nl Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children NOT_TRANSLATED +en Reduction of total body weight HP:0001824 IAO:0000115 nl Reduction of total body weight NOT_TRANSLATED +en Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva HP:0011225 IAO:0000115 nl Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva NOT_TRANSLATED +en Redundant neck skin HP:0005989 rdfs:label nl Overtollige nek huid CANDIDATE +en Redundant skin HP:0001582 rdfs:label nl Overtollige huid CANDIDATE +en Redundant skin in infancy HP:0007595 rdfs:label nl Overtollige huid in zuigelingenperiode CANDIDATE +en Redundant skin on fingers HP:0007516 rdfs:label nl Overtollige huid van vingers CANDIDATE +en Redundant umbilical skin HP:0034361 rdfs:label nl Redundant umbilical skin NOT_TRANSLATED +en Refers to the loss of the outer layer of the epidermis in large, scale-like flakes HP:0040189 IAO:0000115 nl Refers to the loss of the outer layer of the epidermis in large, scale-like flakes NOT_TRANSLATED +en Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries HP:0005134 IAO:0000115 nl Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries NOT_TRANSLATED +en Reflex asystolic syncope HP:0500173 rdfs:label nl Reflex asystolic syncope NOT_TRANSLATED +en Reflex seizure HP:0020207 rdfs:label nl Reflex seizure NOT_TRANSLATED +en Reflex tearing HP:0031733 rdfs:label nl Reflex tranen CANDIDATE +en Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest) HP:0031788 IAO:0000115 nl Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest) NOT_TRANSLATED +en Refractory HP:0031375 rdfs:label nl Refractoir CANDIDATE +en Refractory anemia HP:0005505 rdfs:label nl Refractoire anemie CANDIDATE +en Refractory anemia with ringed sideroblasts HP:0004828 rdfs:label nl Refractoire anemie met geringde sideroblasten CANDIDATE +en Refractory drug response HP:0020174 rdfs:label nl Refractory drug response NOT_TRANSLATED +en Refractory macrocytic anemia HP:0004861 rdfs:label nl Refractoire macrocytaire anemie CANDIDATE +en Refractory sideroblastic anemia HP:0004864 rdfs:label nl Refractoire sideroblastaire anemie CANDIDATE +en Refractory status epilepticus HP:0032867 rdfs:label nl Refractory status epilepticus NOT_TRANSLATED +en Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine HP:0032867 IAO:0000115 nl Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine NOT_TRANSLATED +en Regional abnormality of skin HP:0011356 rdfs:label nl Regionale afwijking van huid CANDIDATE +en Regional increase in the width (height) of the eyebrow HP:0011229 IAO:0000115 nl Regional increase in the width (height) of the eyebrow NOT_TRANSLATED +en Regional increase in the width (height) of the lateral eyebrow HP:0007933 IAO:0000115 nl Regional increase in the width (height) of the lateral eyebrow NOT_TRANSLATED +en Regional increase in the width (height) of the middle portion of the eyebrow HP:0034003 IAO:0000115 nl Regional increase in the width (height) of the middle portion of the eyebrow NOT_TRANSLATED +en Regional left ventricular wall motion abnormality HP:0012667 rdfs:label nl Regional left ventricular wall motion abnormality NOT_TRANSLATED +en Regional right ventricular hypokinesis HP:0034330 rdfs:label nl Regional right ventricular hypokinesis NOT_TRANSLATED +en Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans HP:0025494 IAO:0000115 nl Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans NOT_TRANSLATED +en Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve HP:0034376 IAO:0000115 nl Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve NOT_TRANSLATED +en Regurgitation of milk through the nose HP:0011469 IAO:0000115 nl Regurgitation of milk through the nose NOT_TRANSLATED +en Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR HP:0034377 IAO:0000115 nl Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR NOT_TRANSLATED +en Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness HP:0033850 IAO:0000115 nl Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness NOT_TRANSLATED +en Relative macrocephaly HP:0004482 rdfs:label nl Relatieve macrocefalie CANDIDATE +en Relatively increased growth of the fibula compared to that of the tibia HP:0003099 IAO:0000115 nl Relatively increased growth of the fibula compared to that of the tibia NOT_TRANSLATED +en Relatively short spine HP:0002766 rdfs:label nl Relatief korte wervelkolom CANDIDATE +en Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing) HP:0012523 IAO:0000115 nl Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing) NOT_TRANSLATED +en Remnants of the hyaloid vascular system HP:0007968 rdfs:label nl Restanten van het hyaloïd-vasculair systeem CANDIDATE +en Renal Fanconi syndrome HP:0001994 rdfs:label nl Renaal Fanconi syndroom CANDIDATE +en Renal agenesis HP:0000104 rdfs:label nl Nieragenesie CANDIDATE +en Renal amyloidosis HP:0001917 rdfs:label nl Renale amyloidose CANDIDATE +en Renal angiomyolipoma HP:0006772 rdfs:label nl Renaal angiomyolipoom CANDIDATE +en Renal arteriolar intraluminal thrombi HP:0033894 rdfs:label nl Renal arteriolar intraluminal thrombi NOT_TRANSLATED +en Renal arteriolar lumen cholesterol emboli HP:0033891 rdfs:label nl Renal arteriolar lumen cholesterol emboli NOT_TRANSLATED +en Renal arteriolar lumen organized thrombi HP:0033893 rdfs:label nl Renal arteriolar lumen organized thrombi NOT_TRANSLATED +en Renal arteriole endoarterial hypercellularity HP:0033921 rdfs:label nl Renal arteriole endoarterial hypercellularity NOT_TRANSLATED +en Renal arteriole foam cell endoarterial hypercellularity HP:0033923 rdfs:label nl Renal arteriole foam cell endoarterial hypercellularity NOT_TRANSLATED +en Renal arteriole intima/media amyloidosis HP:0033900 rdfs:label nl Renal arteriole intima/media amyloidosis NOT_TRANSLATED +en Renal arteriole intima/media arteriolosclerosis HP:0033907 rdfs:label nl Renal arteriole intima/media arteriolosclerosis NOT_TRANSLATED +en Renal arteriole intima/media coagulative necrosis HP:0033940 rdfs:label nl Renal arteriole intima/media coagulative necrosis NOT_TRANSLATED +en Renal arteriole intima/media crystal accumulation HP:0033947 rdfs:label nl Renal arteriole intima/media crystal accumulation NOT_TRANSLATED +en Renal arteriole intima/media hyalinosis HP:0033904 rdfs:label nl Renal arteriole intima/media hyalinosis NOT_TRANSLATED +en Renal arteriole intima/media liquefactive necrosis HP:0033939 rdfs:label nl Renal arteriole intima/media liquefactive necrosis NOT_TRANSLATED +en Renal arteriole intima/media necrosis HP:0033938 rdfs:label nl Renal arteriole intima/media necrosis NOT_TRANSLATED +en Renal arteriole intima/media storage material accumulation HP:0033920 rdfs:label nl Renal arteriole intima/media storage material accumulation NOT_TRANSLATED +en Renal arteriole intimal/medial multilamellation HP:0033926 rdfs:label nl Renal arteriole intimal/medial multilamellation NOT_TRANSLATED +en Renal arteriole leukocytic endoarterial hypercellularity HP:0033922 rdfs:label nl Renal arteriole leukocytic endoarterial hypercellularity NOT_TRANSLATED +en Renal arteriole lymphocyte endoarterial hypercellularity HP:0033925 rdfs:label nl Renal arteriole lymphocyte endoarterial hypercellularity NOT_TRANSLATED +en Renal arteriole medial atrophy HP:0033908 rdfs:label nl Renal arteriole medial atrophy NOT_TRANSLATED +en Renal arteriole medial hypertrophy HP:0033918 rdfs:label nl Renal arteriole medial hypertrophy NOT_TRANSLATED +en Renal arteriole neutrophil endoarterial hypercellularity HP:0033924 rdfs:label nl Renal arteriole neutrophil endoarterial hypercellularity NOT_TRANSLATED +en Renal artery aneurysm HP:0033261 rdfs:label nl Renal artery aneurysm NOT_TRANSLATED +en Renal artery atherosclerosis HP:0031684 rdfs:label nl Atherosclerose van arteria renalis CANDIDATE +en Renal artery duplication HP:0031922 rdfs:label nl Renal artery duplication NOT_TRANSLATED +en Renal artery stenosis HP:0001920 rdfs:label nl Renaal arterie stenose CANDIDATE +en Renal atrophy HP:0012585 rdfs:label nl Renale atrofie CANDIDATE +en Renal calcium wasting HP:0012637 rdfs:label nl Renaal calcium verlies CANDIDATE +en Renal cell carcinoma HP:0005584 rdfs:label nl Niercelkanker CANDIDATE +en Renal chloride wasting HP:0012602 rdfs:label nl Renaal chloride verlies CANDIDATE +en Renal cortical adenoma HP:0006735 rdfs:label nl Renaal corticaal adenoom CANDIDATE +en Renal cortical atrophy HP:0002048 rdfs:label nl Renale corticale atrofie CANDIDATE +en Renal cortical cysts HP:0000803 rdfs:label nl Renale corticale cysten CANDIDATE +en Renal cortical hyperechogenicity HP:0033132 rdfs:label nl Renal cortical hyperechogenicity NOT_TRANSLATED +en Renal cortical hypoechogeneity HP:0033133 rdfs:label nl Renal cortical hypoechogeneity NOT_TRANSLATED +en Renal cortical interstitial inflammation HP:0032946 rdfs:label nl Renal cortical interstitial inflammation NOT_TRANSLATED +en Renal cortical microcysts HP:0004734 rdfs:label nl Renale corticale microcysten CANDIDATE +en Renal cortical necrosis HP:0025418 rdfs:label nl Renale corticale necrose CANDIDATE +en Renal corticomedullary cysts HP:0000108 rdfs:label nl Renale corticomedullaire cysten CANDIDATE +en Renal cyst HP:0000107 rdfs:label nl Renale cyste CANDIDATE +en Renal diverticulum HP:0100877 rdfs:label nl Renaal divertikel CANDIDATE +en Renal duplication HP:0000075 rdfs:label nl Renale duplicatie CANDIDATE +en Renal dysplasia HP:0000110 rdfs:label nl Renale dysplasie CANDIDATE +en Renal fibrosis HP:0030760 rdfs:label nl Renale fibrose CANDIDATE +en Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease HP:0030760 IAO:0000115 nl Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease NOT_TRANSLATED +en Renal glomerular amyloid deposition HP:0032614 rdfs:label nl Renal glomerular amyloid deposition NOT_TRANSLATED +en Renal glomerular foam cells HP:0032583 rdfs:label nl Renal glomerular foam cells NOT_TRANSLATED +en Renal hamartoma HP:0008696 rdfs:label nl Renaal hamartoom CANDIDATE +en Renal hypophosphatemia HP:0008732 rdfs:label nl Renale hypofosfatemie CANDIDATE +en Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion HP:0008732 IAO:0000115 nl Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion NOT_TRANSLATED +en Renal hypoplasia HP:0000089 rdfs:label nl Renale hypoplasie CANDIDATE +en Renal hypoplasia/aplasia HP:0008678 rdfs:label nl Renale hypoplasie/aplasie CANDIDATE +en Renal insufficiency HP:0000083 rdfs:label nl Nierinsufficiëntie CANDIDATE +en Renal interstitial IgG4+ plasma cell infiltration HP:0033069 rdfs:label nl Renal interstitial IgG4+ plasma cell infiltration NOT_TRANSLATED +en Renal interstitial amyloid deposits HP:0032613 rdfs:label nl Renal interstitial amyloid deposits NOT_TRANSLATED +en Renal interstitial calcium oxalate HP:0032587 rdfs:label nl Renal interstitial calcium oxalate NOT_TRANSLATED +en Renal interstitial calcium phosphate deposits HP:0032949 rdfs:label nl Renal interstitial calcium phosphate deposits NOT_TRANSLATED +en Renal interstitial deposits HP:0032644 rdfs:label nl Renal interstitial deposits NOT_TRANSLATED +en Renal interstitial edema HP:0032637 rdfs:label nl Renal interstitial edema NOT_TRANSLATED +en Renal interstitial eosinophil infiltration HP:0032585 rdfs:label nl Renal interstitial eosinophil infiltration NOT_TRANSLATED +en Renal interstitial fibrosis HP:0032948 rdfs:label nl Renal interstitial fibrosis NOT_TRANSLATED +en Renal interstitial foam cells HP:0032582 rdfs:label nl Renal interstitial foam cells NOT_TRANSLATED +en Renal interstitial globotriaosylceramide inclusions HP:0033064 rdfs:label nl Renal interstitial globotriaosylceramide inclusions NOT_TRANSLATED +en Renal interstitial granulomas HP:0032641 rdfs:label nl Renal interstitial granulomas NOT_TRANSLATED +en Renal interstitial hemorrhage HP:0032617 rdfs:label nl Renal interstitial hemorrhage NOT_TRANSLATED +en Renal interstitial hemosiderin HP:0032591 rdfs:label nl Renal interstitial hemosiderin NOT_TRANSLATED +en Renal interstitial immunoglobulin deposits HP:0032616 rdfs:label nl Renal interstitial immunoglobulin deposits NOT_TRANSLATED +en Renal interstitial inflammation HP:0032945 rdfs:label nl Renal interstitial inflammation NOT_TRANSLATED +en Renal interstitial mononuclear cell infiltration HP:0032645 rdfs:label nl Renal interstitial mononuclear cell infiltration NOT_TRANSLATED +en Renal interstitial necrotizing granulomas HP:0032642 rdfs:label nl Renal interstitial necrotizing granulomas NOT_TRANSLATED +en Renal interstitial neutrophil infiltration HP:0032584 rdfs:label nl Renal interstitial neutrophil infiltration NOT_TRANSLATED +en Renal interstitial non-necrotizing granulomas HP:0032643 rdfs:label nl Renal interstitial non-necrotizing granulomas NOT_TRANSLATED +en Renal interstitial plasma cell infiltration HP:0032586 rdfs:label nl Renal interstitial plasma cell infiltration NOT_TRANSLATED +en Renal interstitial xanthogranulomatous inflammation HP:0032646 rdfs:label nl Renal interstitial xanthogranulomatous inflammation NOT_TRANSLATED +en Renal intimal/medial arteriolitis HP:0033906 rdfs:label nl Renal intimal/medial arteriolitis NOT_TRANSLATED +en Renal intratubular casts HP:0032623 rdfs:label nl Renal intratubular casts NOT_TRANSLATED +en Renal intratubular crystals HP:0032628 rdfs:label nl Renal intratubular crystals NOT_TRANSLATED +en Renal juxtaglomerular cell hypertrophy/hyperplasia HP:0000111 rdfs:label nl Renale juxtaglomerulaire cel hypertrofie/hyperplasie CANDIDATE +en Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection HP:0032955 IAO:0000115 nl Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection NOT_TRANSLATED +en Renal lymphocytic tubulitis HP:0032589 rdfs:label nl Renal lymphocytic tubulitis NOT_TRANSLATED +en Renal magnesium wasting HP:0005567 rdfs:label nl Renaal magnesiumverlies CANDIDATE +en Renal malrotation HP:0004712 rdfs:label nl Renale malrotatie CANDIDATE +en Renal medullary hyperechogenicity HP:0033131 rdfs:label nl Renal medullary hyperechogenicity NOT_TRANSLATED +en Renal medullary interstitial inflammation HP:0032947 rdfs:label nl Renal medullary interstitial inflammation NOT_TRANSLATED +en Renal medullary pyramid hypoplasia HP:0025362 rdfs:label nl Renale medullaire piramide hypoplasie CANDIDATE +en Renal necrosis HP:0032618 rdfs:label nl Renal necrosis NOT_TRANSLATED +en Renal neoplasm HP:0009726 rdfs:label nl Renaal neoplasma CANDIDATE +en Renal neutrophilic tubulitis HP:0032590 rdfs:label nl Renal neutrophilic tubulitis NOT_TRANSLATED +en Renal oncocytoma HP:0011798 rdfs:label nl Renaal oncocytoom CANDIDATE +en Renal papillary necrosis HP:0032632 rdfs:label nl Renal papillary necrosis NOT_TRANSLATED +en Renal pelvic carcinoma HP:0006762 rdfs:label nl Renale bekken carcinoom CANDIDATE +en Renal phosphate wasting HP:0000117 rdfs:label nl Renale fosfaatverspilling CANDIDATE +en Renal potassium wasting HP:0000128 rdfs:label nl Renaal kaliumverlies CANDIDATE +en Renal salt wasting HP:0000127 rdfs:label nl Renaal zoutverlies CANDIDATE +en Renal sarcoma HP:0008663 rdfs:label nl Renaal sarcoom CANDIDATE +en Renal sodium wasting HP:0012606 rdfs:label nl Renaal natrium verlies CANDIDATE +en Renal steatosis HP:0000799 rdfs:label nl Renale steatose CANDIDATE +en Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra HP:0034368 IAO:0000115 nl Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra NOT_TRANSLATED +en Renal transitional cell carcinoma HP:0030409 rdfs:label nl Renaal transitioneel cel carcinoom CANDIDATE +en Renal tubular acidosis HP:0001947 rdfs:label nl Renale tubulaire acidose CANDIDATE +en Renal tubular adenovirus inclusions HP:0032954 rdfs:label nl Renal tubular adenovirus inclusions NOT_TRANSLATED +en Renal tubular atrophy HP:0000092 rdfs:label nl Tubulaire atrofie CANDIDATE +en Renal tubular basement membrane denudation HP:0032594 rdfs:label nl Renal tubular basement membrane denudation NOT_TRANSLATED +en Renal tubular cyst HP:0041050 rdfs:label nl Renal tubular cyst NOT_TRANSLATED +en Renal tubular cytomegalovirus inclusions HP:0032953 rdfs:label nl Renal tubular cytomegalovirus inclusions NOT_TRANSLATED +en Renal tubular dysfunction HP:0000124 rdfs:label nl Renale tubulaire dysfunctie CANDIDATE +en Renal tubular epithelial cell apoptosis HP:0032647 rdfs:label nl Renal tubular epithelial cell apoptosis NOT_TRANSLATED +en Renal tubular epithelial cell casts HP:0031198 rdfs:label nl Renale tubulaire epitheliale cilinders CANDIDATE +en Renal tubular epithelial cell cytoplasmic vacuolization HP:0032596 rdfs:label nl Renal tubular epithelial cell cytoplasmic vacuolization NOT_TRANSLATED +en Renal tubular epithelial cell detachment HP:0032595 rdfs:label nl Renal tubular epithelial cell detachment NOT_TRANSLATED +en Renal tubular epithelial cell hemosiderin HP:0032611 rdfs:label nl Renal tubular epithelial cell hemosiderin NOT_TRANSLATED +en Renal tubular epithelial cell hyaline droplets HP:0032600 rdfs:label nl Renal tubular epithelial cell hyaline droplets NOT_TRANSLATED +en Renal tubular epithelial cell mitosis HP:0032604 rdfs:label nl Renal tubular epithelial cell mitosis NOT_TRANSLATED +en Renal tubular epithelial cell simplification HP:0032603 rdfs:label nl Renal tubular epithelial cell simplification NOT_TRANSLATED +en Renal tubular epithelial cell sloughing HP:0032597 rdfs:label nl Renal tubular epithelial cell sloughing NOT_TRANSLATED +en Renal tubular epithelial cell swelling HP:0032607 rdfs:label nl Renal tubular epithelial cell swelling NOT_TRANSLATED +en Renal tubular epithelial lipofuscin HP:0032606 rdfs:label nl Renal tubular epithelial lipofuscin NOT_TRANSLATED +en Renal tubular epithelial necrosis HP:0008682 rdfs:label nl Acute tubulaire necrose CANDIDATE +en Renal tubular herpes simplex virus inclusions HP:0032956 rdfs:label nl Renal tubular herpes simplex virus inclusions NOT_TRANSLATED +en Renal tubular lysine transport defect HP:0008272 rdfs:label nl Renaal tubulair lysine transport defect CANDIDATE +en Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis HP:0032956 IAO:0000115 nl Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis NOT_TRANSLATED +en Renal tubular polyoma virus inclusions HP:0032955 rdfs:label nl Renal tubular polyoma virus inclusions NOT_TRANSLATED +en Renal tubular viral cytopathic changes HP:0032951 rdfs:label nl Renal tubular viral cytopathic changes NOT_TRANSLATED +en Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation HP:0032610 IAO:0000115 nl Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation NOT_TRANSLATED +en Renal vein thrombosis HP:0034239 rdfs:label nl Renal vein thrombosis NOT_TRANSLATED +en Renotubular dysgenesis HP:0008660 rdfs:label nl Renotubulaire dysgenesie CANDIDATE +en Renovascular hypertension HP:0100817 rdfs:label nl Renovasculaire hypertensie CANDIDATE +en Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte HP:0033492 IAO:0000115 nl Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte NOT_TRANSLATED +en Repeated and inappropriate mechanical repetition of actions HP:0031432 IAO:0000115 nl Repeated and inappropriate mechanical repetition of actions NOT_TRANSLATED +en Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes HP:0032275 IAO:0000115 nl Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes NOT_TRANSLATED +en Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference HP:0200067 IAO:0000115 nl Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference NOT_TRANSLATED +en Repeated episodes of diarrhea separated by periods without diarrhea HP:0002254 IAO:0000115 nl Repeated episodes of diarrhea separated by periods without diarrhea NOT_TRANSLATED +en Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality HP:0002331 IAO:0000115 nl Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality NOT_TRANSLATED +en Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) HP:0004419 IAO:0000115 nl Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein) NOT_TRANSLATED +en Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream HP:0004831 IAO:0000115 nl Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream NOT_TRANSLATED +en Repeated episodes of pyelonephritis HP:0012787 IAO:0000115 nl Repeated episodes of pyelonephritis NOT_TRANSLATED +en Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves HP:0003383 IAO:0000115 nl Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves NOT_TRANSLATED +en Repeated episodes of sudden-onset and transient lethargy HP:0011973 IAO:0000115 nl Repeated episodes of sudden-onset and transient lethargy NOT_TRANSLATED +en Repeated episodes of the formation of a blot clot in a deep vein HP:0004850 IAO:0000115 nl Repeated episodes of the formation of a blot clot in a deep vein NOT_TRANSLATED +en Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ HP:0020093 IAO:0000115 nl Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ NOT_TRANSLATED +en Repeated focal motor seizures HP:0032665 rdfs:label nl Repeated focal motor seizures NOT_TRANSLATED +en Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia HP:0002083 IAO:0000115 nl Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia NOT_TRANSLATED +en Repeated implantation failure HP:0033712 rdfs:label nl Repeated implantation failure NOT_TRANSLATED +en Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles HP:0033712 IAO:0000115 nl Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles NOT_TRANSLATED +en Repeated infections of the urinary bladder HP:0012786 IAO:0000115 nl Repeated infections of the urinary bladder NOT_TRANSLATED +en Repeated infections of the urinary tract HP:0000010 IAO:0000115 nl Repeated infections of the urinary tract NOT_TRANSLATED +en Repeated loss, or shedding, of the nails of the fingers and toes HP:0008390 IAO:0000115 nl Repeated loss, or shedding, of the nails of the fingers and toes NOT_TRANSLATED +en Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing HP:0033362 IAO:0000115 nl Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing NOT_TRANSLATED +en Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure HP:0006582 IAO:0000115 nl Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure NOT_TRANSLATED +en Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection HP:0034284 IAO:0000115 nl Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection NOT_TRANSLATED +en Repeated pneumothoraces HP:0006522 rdfs:label nl Herhaalde pneumothoraces CANDIDATE +en Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids HP:0004911 IAO:0000115 nl Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids NOT_TRANSLATED +en Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement HP:0100033 IAO:0000115 nl Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement NOT_TRANSLATED +en Repetition of one's own words or phrases HP:0031814 IAO:0000115 nl Repetition of one's own words or phrases NOT_TRANSLATED +en Repetitive and compulsive picking of skin which results in tissue damage HP:0012166 IAO:0000115 nl Repetitive and compulsive picking of skin which results in tissue damage NOT_TRANSLATED +en Repetitive compulsive behavior HP:0008762 rdfs:label nl Repetitief compulsief gedrag CANDIDATE +en Repetitive pressing, poking, and/or rubbing in the eyes HP:0001483 IAO:0000115 nl Repetitive pressing, poking, and/or rubbing in the eyes NOT_TRANSLATED +en Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others HP:0031431 IAO:0000115 nl Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others NOT_TRANSLATED +en Replacement of bone marrow by fibrous tissue HP:0011974 IAO:0000115 nl Replacement of bone marrow by fibrous tissue NOT_TRANSLATED +en Replacement of normal lung tissues by fibroblasts and collagen HP:0002206 IAO:0000115 nl Replacement of normal lung tissues by fibroblasts and collagen NOT_TRANSLATED +en Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue HP:0034364 IAO:0000115 nl Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue NOT_TRANSLATED +en Requires heterozygosity HP:0034343 rdfs:label nl Requires heterozygosity NOT_TRANSLATED +en Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated HP:0034338 IAO:0000115 nl Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated NOT_TRANSLATED +en Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated HP:0031179 IAO:0000115 nl Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated NOT_TRANSLATED +en Resistance to activated protein C HP:0012175 rdfs:label nl Weerstand tegen geactiveerd proteïne C CANDIDATE +en Respiratory acidosis HP:0005972 rdfs:label nl Respiratoire acidose CANDIDATE +en Respiratory alkalosis HP:0001950 rdfs:label nl Respiratoire alkalose CANDIDATE +en Respiratory arrest HP:0005943 rdfs:label nl Ademstilstand CANDIDATE +en Respiratory difficulty as newborn HP:0002643 IAO:0000115 nl Respiratory difficulty as newborn NOT_TRANSLATED +en Respiratory distress HP:0002098 rdfs:label nl Respiratoir ongemak CANDIDATE +en Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea HP:0002098 IAO:0000115 nl Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea NOT_TRANSLATED +en Respiratory failure HP:0002878 rdfs:label nl Respiratoire insufficiëntie CANDIDATE +en Respiratory failure in the newborn HP:0012768 IAO:0000115 nl Respiratory failure in the newborn NOT_TRANSLATED +en Respiratory failure requiring assisted ventilation HP:0004887 rdfs:label nl Respiratoir falen, waarvoor ventilatie CANDIDATE +en Respiratory infections in early life HP:0004880 rdfs:label nl Infecties van de luchtwegen in vroege leven CANDIDATE +en Respiratory insufficiency HP:0002093 rdfs:label nl Respiratoire insufficiëntie CANDIDATE +en Respiratory insufficiency due to defective ciliary clearance HP:0200073 rdfs:label nl Respiratoire insufficiëntie als gevolg van defecte ciliaire klaring CANDIDATE +en Respiratory insufficiency due to muscle weakness HP:0002747 rdfs:label nl Respiratoire insufficiëntie als gevolg van spierzwakte CANDIDATE +en Respiratory paralysis HP:0002203 rdfs:label nl Respiratoire paralyse CANDIDATE +en Respiratory tract infection HP:0011947 rdfs:label nl Luchtweginfectie CANDIDATE +en Response to drugs acting on neuromuscular transmission HP:0030201 rdfs:label nl Reactie op geneesmiddelen die aangrijpen op neuromusculaire transmissie CANDIDATE +en Rest dyspnea HP:0033710 rdfs:label nl Rest dyspnea NOT_TRANSLATED +en Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2) HP:0500019 IAO:0000115 nl Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2) NOT_TRANSLATED +en Resting tremor HP:0002322 rdfs:label nl Rust tremor CANDIDATE +en Restless legs HP:0012452 rdfs:label nl Rusteloze benen CANDIDATE +en Restlessness HP:0000711 rdfs:label nl Rusteloosheid CANDIDATE +en Restricted chest movement HP:0006596 rdfs:label nl Beperkte borstbeweging CANDIDATE +en Restricted large joint movement HP:0005193 rdfs:label nl Beperkte beweging van groot gewricht CANDIDATE +en Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis HP:0033402 IAO:0000115 nl Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis NOT_TRANSLATED +en Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis HP:0033403 IAO:0000115 nl Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis NOT_TRANSLATED +en Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue HP:0002637 IAO:0000115 nl Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue NOT_TRANSLATED +en Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain HP:0033404 IAO:0000115 nl Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain NOT_TRANSLATED +en Restrictive behavior HP:0000723 rdfs:label nl Beperkend gedrag CANDIDATE +en Restrictive cardiomyopathy HP:0001723 rdfs:label nl Restrictieve cardiomyopathie CANDIDATE +en Restrictive external ophthalmoplegia HP:0007936 rdfs:label nl Restrictieve externe oftalmoplegie CANDIDATE +en Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness HP:0001723 IAO:0000115 nl Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness NOT_TRANSLATED +en Restrictive partial external ophthalmoplegia HP:0007867 rdfs:label nl Restrictieve partiële externe oftalmoplegie CANDIDATE +en Restrictive ventilatory defect HP:0002091 rdfs:label nl Restrictief ventilatoir defect CANDIDATE +en Restrictive ventricular septal defect HP:0011683 rdfs:label nl Restrictief ventrikelseptumdefect CANDIDATE +en Retarded ejaculation HP:0012878 rdfs:label nl Ejaculatio tarda CANDIDATE +en Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance HP:0025117 IAO:0000115 nl Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance NOT_TRANSLATED +en Rete ridge flattening HP:0025117 rdfs:label nl Rete ridge flattening NOT_TRANSLATED +en Reticular HP:0033818 rdfs:label nl Reticular NOT_TRANSLATED +en Reticular hyperpigmentation HP:0007588 rdfs:label nl Reticulaire hyperpigmentatie CANDIDATE +en Reticular pattern on pulmonary HRCT HP:0025390 rdfs:label nl Reticulair patroon op pulmonale HRCT CANDIDATE +en Reticular pigmentary degeneration HP:0007937 rdfs:label nl Reticulaire pigment degeneratie CANDIDATE +en Reticular retinal dystrophy HP:0007913 rdfs:label nl Reticulaire retinale dystrofie CANDIDATE +en Reticulate pigmentation of oral mucosa HP:0012788 rdfs:label nl Reticulate pigmentation of oral mucosa NOT_TRANSLATED +en Reticulated skin pigmentation HP:0007427 rdfs:label nl Gereticuleerde huidpigmentatie CANDIDATE +en Reticulocytopenia HP:0001896 rdfs:label nl Reticulocytopenie CANDIDATE +en Reticulocytosis HP:0001923 rdfs:label nl Reticulocytose CANDIDATE +en Reticulonodular pattern on pulmonary HRCT HP:0025393 rdfs:label nl Reticulonodulair patroon op pulmonale HRCT CANDIDATE +en Retinal arterial macroaneurysms HP:0025355 rdfs:label nl Retinale arteriële macroaneurysmas CANDIDATE +en Retinal arterial occlusion HP:0025326 rdfs:label nl Retinale arteriële occlusie CANDIDATE +en Retinal arterial tortuosity HP:0000631 rdfs:label nl Retinale arteriële kronkeligheid CANDIDATE +en Retinal arteriolar constriction HP:0008043 rdfs:label nl Retinale arteriolaire constrictie CANDIDATE +en Retinal arteriolar occlusion HP:0007985 rdfs:label nl Retinale arteriolaire occlusie CANDIDATE +en Retinal arteriolar tortuosity HP:0001136 rdfs:label nl Retinale arteriolaire kronkeligheid CANDIDATE +en Retinal arteritis HP:0008030 rdfs:label nl Retinale arteritis CANDIDATE +en Retinal astrocytic hamartoma HP:0012778 rdfs:label nl Retinaal astrocytair hamartoom CANDIDATE +en Retinal atrophy HP:0001105 rdfs:label nl Retinale atrofie CANDIDATE +en Retinal calcification HP:0007862 rdfs:label nl Retinale calcificatie CANDIDATE +en Retinal capillary hemangioma HP:0009711 rdfs:label nl Retinaal capillair hemangioom CANDIDATE +en Retinal cavernous angioma HP:0011513 rdfs:label nl Retinaal caverneus angioom CANDIDATE +en Retinal cavernous hemangioma HP:0030508 rdfs:label nl Retinaal caverneus hemangioom CANDIDATE +en Retinal coloboma HP:0000480 rdfs:label nl Retinaal coloboom CANDIDATE +en Retinal cotton wool spot HP:0031606 rdfs:label nl Retinal cotton wool spot NOT_TRANSLATED +en Retinal crystals HP:0030507 rdfs:label nl Retinale kristallen CANDIDATE +en Retinal degeneration HP:0000546 rdfs:label nl Retinale degeneratie CANDIDATE +en Retinal detachment HP:0000541 rdfs:label nl Retinale loslating CANDIDATE +en Retinal dots HP:0032027 rdfs:label nl Retinal dots NOT_TRANSLATED +en Retinal dysplasia HP:0007973 rdfs:label nl Retinale dysplasie CANDIDATE +en Retinal dystrophy HP:0000556 rdfs:label nl Retinale dystrofie CANDIDATE +en Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event HP:0000556 IAO:0000115 nl Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event NOT_TRANSLATED +en Retinal dystrophy with early macular involvement HP:0030635 rdfs:label nl Retinale dystrofie met vroege macula betrokkenheid CANDIDATE +en Retinal exudate HP:0001147 rdfs:label nl Retinaal exsudaat CANDIDATE +en Retinal exudate within the retinal tissue itself HP:0007989 IAO:0000115 nl Retinal exudate within the retinal tissue itself NOT_TRANSLATED +en Retinal flecks HP:0012045 rdfs:label nl Retinal flecks NOT_TRANSLATED +en Retinal fold HP:0008052 rdfs:label nl Retina plooi CANDIDATE +en Retinal hamartoma HP:0009594 rdfs:label nl Retinaal hamartoom CANDIDATE +en Retinal hemorrhage HP:0000573 rdfs:label nl Retinale bloeding CANDIDATE +en Retinal hole HP:0011530 rdfs:label nl Retinaal gat CANDIDATE +en Retinal infarction HP:0007866 rdfs:label nl Retina-infarct CANDIDATE +en Retinal microaneurysm HP:0032416 rdfs:label nl Retinal microaneurysm NOT_TRANSLATED +en Retinal neoplasm HP:0012777 rdfs:label nl Retinaal neoplasma CANDIDATE +en Retinal neovascularization HP:0030666 rdfs:label nl Retinale neovascularisatie CANDIDATE +en Retinal nerve fiber edema HP:0020120 rdfs:label nl Retinal nerve fiber edema NOT_TRANSLATED +en Retinal nonattachment HP:0007899 rdfs:label nl Retinale niet-hechting CANDIDATE +en Retinal peau d'orange HP:0033027 rdfs:label nl Retinal peau d'orange NOT_TRANSLATED +en Retinal perforation HP:0011958 rdfs:label nl Retinale perforatie CANDIDATE +en Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia HP:0030637 IAO:0000115 nl Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia NOT_TRANSLATED +en Retinal pigment epithelial atrophy HP:0007722 rdfs:label nl Retina pigment epitheel atrofie CANDIDATE +en Retinal pigment epithelial loss on macular OCT HP:0030611 rdfs:label nl Retina pigment epitheel verlies op macula OCT CANDIDATE +en Retinal pigment epithelial mottling HP:0007814 rdfs:label nl Retina pigment epitheel vlekken CANDIDATE +en Retinal racemose hemangioma HP:0030509 rdfs:label nl Retinaal racemose hemangioom CANDIDATE +en Retinal telangiectasia HP:0007763 rdfs:label nl Retinale telangiëctasiën CANDIDATE +en Retinal thinning HP:0030329 rdfs:label nl Retinale verdunning CANDIDATE +en Retinal vascular malformation HP:0007797 rdfs:label nl Retinale vasculaire malformatie CANDIDATE +en Retinal vascular proliferation HP:0007850 rdfs:label nl Retinale vasculaire proliferatie CANDIDATE +en Retinal vascular tortuosity HP:0012841 rdfs:label nl Retinale vasculaire kronkeligheid CANDIDATE +en Retinal vasculitis HP:0025188 rdfs:label nl Retinale vasculitis CANDIDATE +en Retinal vein occlusion HP:0012636 rdfs:label nl Retinale veneuze occlusie CANDIDATE +en Retinitis HP:0032118 rdfs:label nl Retinitis NOT_TRANSLATED +en Retinitis pigmentosa inversa HP:0008035 rdfs:label nl Retinitis pigmentosa inversa CANDIDATE +en Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery) HP:0008035 IAO:0000115 nl Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery) NOT_TRANSLATED +en Retinoblastoma HP:0009919 rdfs:label nl Retinoblastoom CANDIDATE +en Retinopathy HP:0000488 rdfs:label nl Retinopathie CANDIDATE +en Retinopathy of prematurity HP:0500049 rdfs:label nl Retinopathy of prematurity NOT_TRANSLATED +en Retinopathy of prematurity plus HP:0500062 rdfs:label nl Retinopathy of prematurity plus NOT_TRANSLATED +en Retinopathy of prematurity pre-plus HP:0500063 rdfs:label nl Retinopathy of prematurity pre-plus NOT_TRANSLATED +en Retinopathy of prematurity prethreshold HP:0500065 rdfs:label nl Retinopathy of prematurity prethreshold NOT_TRANSLATED +en Retinopathy of prematurity stage 1 HP:0500050 rdfs:label nl Retinopathy of prematurity stage 1 NOT_TRANSLATED +en Retinopathy of prematurity stage 2 HP:0500051 rdfs:label nl Retinopathy of prematurity stage 2 NOT_TRANSLATED +en Retinopathy of prematurity stage 3 HP:0500052 rdfs:label nl Retinopathy of prematurity stage 3 NOT_TRANSLATED +en Retinopathy of prematurity stage 4 HP:0500053 rdfs:label nl Retinopathy of prematurity stage 4 NOT_TRANSLATED +en Retinopathy of prematurity stage 4a HP:0500054 rdfs:label nl Retinopathy of prematurity stage 4a NOT_TRANSLATED +en Retinopathy of prematurity stage 4b HP:0500055 rdfs:label nl Retinopathy of prematurity stage 4b NOT_TRANSLATED +en Retinopathy of prematurity stage 5 HP:0500056 rdfs:label nl Retinopathy of prematurity stage 5 NOT_TRANSLATED +en Retinopathy of prematurity stage 5a HP:0500057 rdfs:label nl Retinopathy of prematurity stage 5a NOT_TRANSLATED +en Retinopathy of prematurity stage 5b HP:0500058 rdfs:label nl Retinopathy of prematurity stage 5b NOT_TRANSLATED +en Retinopathy of prematurity threshold HP:0500064 rdfs:label nl Retinopathy of prematurity threshold NOT_TRANSLATED +en Retinopathy of prematurity zone I HP:0500059 rdfs:label nl Retinopathy of prematurity zone I NOT_TRANSLATED +en Retinopathy of prematurity zone II HP:0500060 rdfs:label nl Retinopathy of prematurity zone II NOT_TRANSLATED +en Retinopathy of prematurity zone III HP:0500061 rdfs:label nl Retinopathy of prematurity zone III NOT_TRANSLATED +en Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata HP:0500060 IAO:0000115 nl Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata NOT_TRANSLATED +en Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula HP:0500059 IAO:0000115 nl Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula NOT_TRANSLATED +en Retinopathy which is a residual crescent of retina anterior to zone II HP:0500061 IAO:0000115 nl Retinopathy which is a residual crescent of retina anterior to zone II NOT_TRANSLATED +en Retinoschisis HP:0030502 rdfs:label nl Retinoschisis CANDIDATE +en Retractile testis HP:0012646 rdfs:label nl Retractiele testis CANDIDATE +en Retrobulbar optic neuritis HP:0100654 rdfs:label nl Retrobulbaire optische neuritis CANDIDATE +en Retrocerebellar cyst HP:0006951 rdfs:label nl Retrocerebellaire cyste CANDIDATE +en Retrocollis HP:0002544 rdfs:label nl Retrocollis CANDIDATE +en Retrognathia HP:0000278 rdfs:label nl Retrognathie CANDIDATE +en Retrograde ejaculation HP:0012877 rdfs:label nl Retrograde ejaculatie CANDIDATE +en Retrograde memory impairment HP:0033690 rdfs:label nl Retrograde memory impairment NOT_TRANSLATED +en Retroperitoneal chemodectomas HP:0006729 rdfs:label nl Retroperitoneale chemodectomen CANDIDATE +en Retroperitoneal fibrosis HP:0005200 rdfs:label nl Retroperitoneale fibrose CANDIDATE +en Retropharyngeal hemangioma HP:0410273 rdfs:label nl Retropharyngeal hemangioma NOT_TRANSLATED +en Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding HP:0033174 IAO:0000115 nl Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding NOT_TRANSLATED +en Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space HP:0033173 IAO:0000115 nl Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space NOT_TRANSLATED +en Reverse typical atrial flutter HP:0031672 rdfs:label nl Reverse typical atrial flutter NOT_TRANSLATED +en Reversed end-diastolic umbilical artery flow HP:0034225 rdfs:label nl Reversed end-diastolic umbilical artery flow NOT_TRANSLATED +en Reversed usual vertebral column curves HP:0008433 rdfs:label nl Reversed usual vertebral column curves NOT_TRANSLATED +en Reversible airflow obstruction HP:0033540 rdfs:label nl Reversible airflow obstruction NOT_TRANSLATED +en Reversible renal failure HP:0004713 rdfs:label nl Reversibel nierfalen CANDIDATE +en Reye syndrome-like episodes HP:0006582 rdfs:label nl Reye syndroom-achtige episoden CANDIDATE +en Rhabdoid tumor of the kidney HP:0034402 rdfs:label nl Rhabdoid tumor of the kidney NOT_TRANSLATED +en Rhabdomyolysis HP:0003201 rdfs:label nl Rabdomyolyse CANDIDATE +en Rhabdomyolysis induced by a viral infection HP:0003558 IAO:0000115 nl Rhabdomyolysis induced by a viral infection NOT_TRANSLATED +en Rhabdomyolysis induced by anesthesia HP:0011439 IAO:0000115 nl Rhabdomyolysis induced by anesthesia NOT_TRANSLATED +en Rhabdomyolysis induced by exercise HP:0009045 IAO:0000115 nl Rhabdomyolysis induced by exercise NOT_TRANSLATED +en Rhabdomyolysis induced by intake of alcohol HP:0011440 IAO:0000115 nl Rhabdomyolysis induced by intake of alcohol NOT_TRANSLATED +en Rhabdomyoma HP:0009730 rdfs:label nl Rhabdomyoom CANDIDATE +en Rhabdomyosarcoma HP:0002859 rdfs:label nl Rhabdomyosarcoom CANDIDATE +en Rhegmatogenous retinal detachment HP:0012230 rdfs:label nl Rhegmatogene netvliesloslating CANDIDATE +en Rheumatoid arthritis HP:0001370 rdfs:label nl Reumatoïde artritis CANDIDATE +en Rheumatoid factor positive HP:0002923 rdfs:label nl Reumafactor positief CANDIDATE +en Rhinitis HP:0012384 rdfs:label nl Rhinitis CANDIDATE +en Rhinorrhea HP:0031417 rdfs:label nl Rinorroe CANDIDATE +en Rhizo-meso-acromelic limb shortening HP:0005069 rdfs:label nl Rhizo-meso-acromelische ledemaat verkorting CANDIDATE +en Rhizomelia HP:0008905 rdfs:label nl Rhizomelie CANDIDATE +en Rhizomelic arm shortening HP:0004991 rdfs:label nl Rhizomelische arm verkorting CANDIDATE +en Rhizomelic leg shortening HP:0012106 rdfs:label nl Rhizomelische been verkorting CANDIDATE +en Rhombencephalosynapsis HP:0031913 rdfs:label nl Rhombencephalosynapsis NOT_TRANSLATED +en Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis HP:0031913 IAO:0000115 nl Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis NOT_TRANSLATED +en Rhomboid or triangular shaped 5th (little) finger distal phalanx HP:0009379 IAO:0000115 nl Rhomboid or triangular shaped 5th (little) finger distal phalanx NOT_TRANSLATED +en Rhomboid or triangular shaped 5th (little) finger middle phalanx HP:0005910 IAO:0000115 nl Rhomboid or triangular shaped 5th (little) finger middle phalanx NOT_TRANSLATED +en Rhomboid or triangular shaped 5th (little) finger proximal phalanx HP:0009236 IAO:0000115 nl Rhomboid or triangular shaped 5th (little) finger proximal phalanx NOT_TRANSLATED +en Rhomboid or triangular shaped 5th finger distal phalanx HP:0009379 rdfs:label nl Parallellogram- of driehoekig-vormige distale falanx van 5e vinger CANDIDATE +en Rhomboid or triangular shaped 5th finger middle phalanx HP:0005910 rdfs:label nl Parallellogram- of driehoekig-vormige middelste falanx van 5e vinger CANDIDATE +en Rhomboid or triangular shaped 5th finger proximal phalanx HP:0009236 rdfs:label nl Parallellogram- of driehoekig-vormige proximale falanx van 5e vinger CANDIDATE +en Rhonchi HP:0030831 rdfs:label nl Rhonchi CANDIDATE +en Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms HP:0000639 IAO:0000115 nl Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms NOT_TRANSLATED +en Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction HP:0012043 IAO:0000115 nl Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction NOT_TRANSLATED +en Rib exostoses HP:0000896 rdfs:label nl Rib-exostosen CANDIDATE +en Rib fusion HP:0000902 rdfs:label nl Ribfusie CANDIDATE +en Rib gap HP:0030280 rdfs:label nl Rib gap NOT_TRANSLATED +en Rib osteolysis HP:0034047 rdfs:label nl Rib osteolysis NOT_TRANSLATED +en Rib segmentation abnormalities HP:0006655 rdfs:label nl Rib segmentatie afwijkingen CANDIDATE +en Ribbonlike corneal degeneration HP:0200066 rdfs:label nl Lintachgie corneale degeneratie CANDIDATE +en Ribs that are increased in width and taper to the posterior ends HP:0012307 IAO:0000115 nl Ribs that are increased in width and taper to the posterior ends NOT_TRANSLATED +en Ribs with a reduced diameter HP:0000883 IAO:0000115 nl Ribs with a reduced diameter NOT_TRANSLATED +en Rickets HP:0002748 rdfs:label nl Rachitis CANDIDATE +en Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets HP:0002748 IAO:0000115 nl Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets NOT_TRANSLATED +en Rickets of the lower limbs HP:0006463 rdfs:label nl Rachitis van de onderste ledematen CANDIDATE +en Ridged cranial sutures HP:0010823 rdfs:label nl Gerichelde craniale suturen CANDIDATE +en Ridged fingernail HP:0008402 rdfs:label nl Geribbelde vingernagel CANDIDATE +en Ridged nail HP:0001807 rdfs:label nl Gerichelde nagel CANDIDATE +en Rieger anomaly HP:0000558 rdfs:label nl Rieger syndroom CANDIDATE +en Right HP:0012834 rdfs:label nl Rechts CANDIDATE +en Right aortic arch HP:0012020 rdfs:label nl Rechter aortaboog CANDIDATE +en Right aortic arch with left descending aorta and left ductus arteriosus HP:0011597 rdfs:label nl Rechter aortaboog met links descenderende aorta en linker ductus arteriosus CANDIDATE +en Right aortic arch with mirror image branching HP:0002627 rdfs:label nl Rechter aortaboog met vertakkingen in spiegelbeeld CANDIDATE +en Right aortic arch with retroesophageal diverticulum of Kommerell HP:0011594 rdfs:label nl Rechter aortaboog met retro-oesofageaal divertikel van Kommerell CANDIDATE +en Right aortic arch with retroesophageal left subclavian artery HP:0011598 rdfs:label nl Rechter aortaboog met retro-oesofageale linker arteria subclavia CANDIDATE +en Right atrial enlargement HP:0030718 rdfs:label nl Vergroting van rechter atrium CANDIDATE +en Right atrial isomerism HP:0011536 rdfs:label nl Rechter atrium isomerisme CANDIDATE +en Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest HP:0011536 IAO:0000115 nl Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest NOT_TRANSLATED +en Right atrial thrombus HP:0033138 rdfs:label nl Right atrial thrombus NOT_TRANSLATED +en Right axis deviation HP:0033567 rdfs:label nl Right axis deviation NOT_TRANSLATED +en Right bundle branch block HP:0011712 rdfs:label nl Rechterbundeltakblok CANDIDATE +en Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve HP:0011639 IAO:0000115 nl Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve NOT_TRANSLATED +en Right coronary artery ostial atresia HP:0031637 rdfs:label nl Rechter coronair arteriële ostiale atresie CANDIDATE +en Right hemiplegia HP:0040293 rdfs:label nl Rechter hemiplegie CANDIDATE +en Right isomerism HP:0031855 rdfs:label nl Right isomerism NOT_TRANSLATED +en Right pulmonary venous return to the inferior vena cava HP:0011626 IAO:0000115 nl Right pulmonary venous return to the inferior vena cava NOT_TRANSLATED +en Right sided atrium to left ventricle and absent left sided atrioventricular connection HP:0011551 rdfs:label nl Right sided atrium to left ventricle and absent left sided atrioventricular connection NOT_TRANSLATED +en Right unicoronal synostosis HP:0011317 rdfs:label nl Rechter unicoronale synostose CANDIDATE +en Right unilambdoid synostosis HP:0011322 rdfs:label nl Right unilambdoid synostosis NOT_TRANSLATED +en Right ventricular cardiomyopathy HP:0011663 rdfs:label nl Rechter ventrikel cardiomyopathie CANDIDATE +en Right ventricular dilatation HP:0005133 rdfs:label nl Rechterventrikel dilatatie CANDIDATE +en Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease HP:0011663 IAO:0000115 nl Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease NOT_TRANSLATED +en Right ventricular failure HP:0001708 rdfs:label nl Rechter ventrikelfalen CANDIDATE +en Right ventricular hypertrophy HP:0001667 rdfs:label nl Rechter ventrikelhypertrofie CANDIDATE +en Right ventricular noncompaction cardiomyopathy HP:0012816 rdfs:label nl Rechter ventrikel non-compactie cardiomyopathie CANDIDATE +en Right ventricular outlet tract obstruction HP:0001705 rdfs:label nl Rechter ventriculaire outlet obstructie CANDIDATE +en Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle HP:0001648 IAO:0000115 nl Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle NOT_TRANSLATED +en Right-to-left shunt HP:0001694 rdfs:label nl Rechts-naar-links-shunt CANDIDATE +en Rightward direction of ventricular apex HP:0011601 rdfs:label nl Rechter richting van ventriculaire apex CANDIDATE +en Rigidity HP:0002063 rdfs:label nl Rigiditeit CANDIDATE +en Rigors HP:0025145 rdfs:label nl Rillingen CANDIDATE +en Rimmed vacuoles HP:0003805 rdfs:label nl Omrande vacuolen CANDIDATE +en Ring fibers HP:0100305 rdfs:label nl Ring vezels CANDIDATE +en Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation HP:0100305 IAO:0000115 nl Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation NOT_TRANSLATED +en Ring scotoma HP:0030529 rdfs:label nl Ringscotoom CANDIDATE +en Ringed creases of the skin of the extremities related to folding of excess skin HP:0034400 IAO:0000115 nl Ringed creases of the skin of the extremities related to folding of excess skin NOT_TRANSLATED +en Risk taking HP:0031472 rdfs:label nl Risico nemen CANDIDATE +en Risus sardonicus HP:0040212 rdfs:label nl Risus sardonicus CANDIDATE +en Rocker bottom foot HP:0001838 rdfs:label nl Rocker bottom foot CANDIDATE +en Rod-cone dystrophy HP:0000510 rdfs:label nl Staaf-kegeldystrofie CANDIDATE +en Rootless teeth HP:0011072 rdfs:label nl Wortelloze tanden CANDIDATE +en Rope sign HP:0031924 rdfs:label nl Rope sign NOT_TRANSLATED +en Rosenthal fibers HP:0100320 rdfs:label nl Rosenthal vezels CANDIDATE +en Rosette HP:0031925 rdfs:label nl Rosette NOT_TRANSLATED +en Rosette-forming glioneuronal tumor HP:0025171 rdfs:label nl Rozetvormende glioneuronale tumor CANDIDATE +en Rotary nystagmus HP:0001583 rdfs:label nl Roterende nystagmus CANDIDATE +en Rotated maxillary central incisors HP:0006330 rdfs:label nl Gedraaide maxillaire centrale snijtanden CANDIDATE +en Rotated position of the glans, with or without the penile shaft, of 30 degrees or more HP:0030263 IAO:0000115 nl Rotated position of the glans, with or without the penile shaft, of 30 degrees or more NOT_TRANSLATED +en Rotator cuff tear HP:0032201 rdfs:label nl Rotator cuff tear NOT_TRANSLATED +en Rouleaux formation HP:0031898 rdfs:label nl Rouleaux formation NOT_TRANSLATED +en Round ear HP:0100830 rdfs:label nl Rond oor CANDIDATE +en Round epiphyses of the upper limbs HP:0003843 rdfs:label nl Ronde epifysen van bovenste ledematen CANDIDATE +en Round face HP:0000311 rdfs:label nl Rond gelaat CANDIDATE +en Round humeral epiphyses HP:0003899 rdfs:label nl Ronde epifysen van de humerus CANDIDATE +en Round radial epiphyses HP:0004006 rdfs:label nl Ronde epifysen van de radius CANDIDATE +en Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells HP:0033315 IAO:0000115 nl Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells NOT_TRANSLATED +en Rounded atelectasis HP:0033658 rdfs:label nl Rounded atelectasis NOT_TRANSLATED +en Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung HP:0033658 IAO:0000115 nl Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung NOT_TRANSLATED +en Rounded epiphyses HP:0006026 rdfs:label nl Afgeronde epifysen CANDIDATE +en Rounded middle phalanx of finger HP:0005844 rdfs:label nl Afgeronde middelste falanx van vinger CANDIDATE +en Rounding and broadening of the tufts of the distal phalanges HP:0006129 IAO:0000115 nl Rounding and broadening of the tufts of the distal phalanges NOT_TRANSLATED +en Rubeosis iridis HP:0025319 rdfs:label nl Rubeosis iridis CANDIDATE +en Rubral tremor HP:0030665 rdfs:label nl Rubral tremor NOT_TRANSLATED +en Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements HP:0030665 IAO:0000115 nl Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements NOT_TRANSLATED +en Rudimentary fibula HP:0006381 rdfs:label nl Rudimentaire fibula CANDIDATE +en Rudimentary postaxial polydactyly of hands HP:0005676 rdfs:label nl Rudimentaire postaxiale polydactylie van handen CANDIDATE +en Rudimentary to absent tibiae HP:0006426 rdfs:label nl Rudimentaire tot afwezige tibiae CANDIDATE +en Rupture of the eyeball not due to trauma HP:0010727 IAO:0000115 nl Rupture of the eyeball not due to trauma NOT_TRANSLATED +en Rupture of the wall of the gallbladder HP:0030154 IAO:0000115 nl Rupture of the wall of the gallbladder NOT_TRANSLATED +en S-shaped palpebral fissures HP:0007835 rdfs:label nl S-vormige ooglidspleten CANDIDATE +en ST segment depression HP:0012250 rdfs:label nl ST-segment depressie CANDIDATE +en ST segment elevation HP:0012251 rdfs:label nl ST-segment elevatie CANDIDATE +en Saccadic intrusion HP:0032114 rdfs:label nl Saccadic intrusion NOT_TRANSLATED +en Saccadic oscillation HP:0032104 rdfs:label nl Saccadic oscillation NOT_TRANSLATED +en Saccadic smooth pursuit HP:0001152 rdfs:label nl Saccadische gladde vervolging CANDIDATE +en Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object HP:0007975 IAO:0000115 nl Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object NOT_TRANSLATED +en Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object HP:0031833 IAO:0000115 nl Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object NOT_TRANSLATED +en Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object HP:0000571 IAO:0000115 nl Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object NOT_TRANSLATED +en Saccharopinuria HP:0034028 rdfs:label nl Saccharopinuria NOT_TRANSLATED +en Saccular abdominal aortic aneurysm HP:0031645 rdfs:label nl Sacculair abdominaal aorta aneurysma CANDIDATE +en Saccular aortic arch aneurysm HP:0031647 rdfs:label nl Sacculair aortaboog aneurysma CANDIDATE +en Saccular conjunctival dilatations HP:0007721 rdfs:label nl Sacculaire conjunctivale dilataties CANDIDATE +en Saccular descending thoracic aortic aneurysm HP:0012729 rdfs:label nl Sacculair thoracaal aorta descendens aneurysma CANDIDATE +en Saccular dilatation of the terminal bronchioles HP:0410397 IAO:0000115 nl Saccular dilatation of the terminal bronchioles NOT_TRANSLATED +en Sacral dimple HP:0000960 rdfs:label nl Sacraal kuiltje CANDIDATE +en Sacral hypertrichosis HP:0004532 rdfs:label nl Sacrale hypertrichose CANDIDATE +en Sacral lipoma HP:0012033 rdfs:label nl Sacraal lipoom CANDIDATE +en Sacral meningocele HP:0005765 rdfs:label nl Sacrale meningocele CANDIDATE +en Sacral segmentation defect HP:0008490 rdfs:label nl Sacraal segmentatie defect CANDIDATE +en Sacralization of the fifth lumbar vertebra HP:0030125 rdfs:label nl Sacralisatie van vijfde lumbale wervel CANDIDATE +en Sacrococcygeal pilonidal abnormality HP:0010767 rdfs:label nl Sacrococcygeale pilonidale afwijking CANDIDATE +en Sacrococcygeal teratoma HP:0030736 rdfs:label nl Sacrococcygeaal teratoom CANDIDATE +en Sacroiliac arthritis HP:0012317 rdfs:label nl Sacro-iliacale artritis CANDIDATE +en Sacroiliac joint synovitis HP:0012449 rdfs:label nl Sacro-iliacale gewricht synovitis CANDIDATE +en Sagittal craniosynostosis HP:0004442 rdfs:label nl Sagittale craniosynostose CANDIDATE +en Salivary gland neoplasm HP:0100684 rdfs:label nl Speekselklier neoplasma CANDIDATE +en Salivary gland oncocytoma HP:0031523 rdfs:label nl Speekselklier oncocytoom CANDIDATE +en Salmonella osteomyelitis HP:0005661 rdfs:label nl Salmonella osteomyelitis CANDIDATE +en Salpingitis HP:0034492 rdfs:label nl Salpingitis NOT_TRANSLATED +en Salt craving HP:0030083 rdfs:label nl Zout craving CANDIDATE +en Sandal gap HP:0001852 rdfs:label nl Sandal gap CANDIDATE +en Sandwich appearance of vertebral bodies HP:0004618 rdfs:label nl Sandwich uiterlijk van wervellichamen CANDIDATE +en Sarcoma HP:0100242 rdfs:label nl Sarcoom CANDIDATE +en Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation HP:0030415 IAO:0000115 nl Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation NOT_TRANSLATED +en Sarcomatoid carcinoma of the tongue HP:0030415 rdfs:label nl Sarcomatoïde carcinoom van de tong CANDIDATE +en Satyr ear HP:0030676 rdfs:label nl Satyr ear NOT_TRANSLATED +en Sawtooth acanthosis HP:0025122 rdfs:label nl Zaagtand acanthose CANDIDATE +en Scaling skin HP:0040189 rdfs:label nl Schilferige huid CANDIDATE +en Scaling skin on fingertip HP:0025525 rdfs:label nl Scaling skin on fingertip NOT_TRANSLATED +en Scalp hair whose growth is slower than normal HP:0100038 IAO:0000115 nl Scalp hair whose growth is slower than normal NOT_TRANSLATED +en Scalp tenderness HP:0100809 rdfs:label nl Hoofdhuid gevoeligheid CANDIDATE +en Scanning speech HP:0002168 rdfs:label nl Scanning speech CANDIDATE +en Scaphocephaly HP:0030799 rdfs:label nl Scafocefalie CANDIDATE +en Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis HP:0030799 IAO:0000115 nl Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis NOT_TRANSLATED +en Scaphoid abdomen HP:0025063 rdfs:label nl Scaphoid abdomen NOT_TRANSLATED +en Scapular aplasia HP:0010317 rdfs:label nl Scapulaire aplasie CANDIDATE +en Scapular exostoses HP:0000918 rdfs:label nl Scapuliere exostosen CANDIDATE +en Scapular muscle atrophy HP:0009060 rdfs:label nl Scapula spieratrofie CANDIDATE +en Scapular muscle hypertrophy HP:0012895 rdfs:label nl Scapulaire spier Hypertrofie CANDIDATE +en Scapular winging HP:0003691 rdfs:label nl Scapula alata CANDIDATE +en Scapulohumeral muscular dystrophy HP:0008970 rdfs:label nl Scapulohumerale spierdystrofie CANDIDATE +en Scapulohumeral synostosis HP:0006595 rdfs:label nl Scapulohumerale synostose CANDIDATE +en Scapuloperoneal amyotrophy HP:0003697 rdfs:label nl Scapuloperoneale amyotrofie CANDIDATE +en Scapuloperoneal myopathy HP:0009054 rdfs:label nl Scapuloperoneale myopathie CANDIDATE +en Scapuloperoneal weakness HP:0003704 rdfs:label nl Scapuloperoneale zwakte CANDIDATE +en Scar tissue in the macula HP:0200056 IAO:0000115 nl Scar tissue in the macula NOT_TRANSLATED +en Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment HP:0500053 IAO:0000115 nl Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment NOT_TRANSLATED +en Scarring HP:0100699 rdfs:label nl Littekenvorming CANDIDATE +en Scarring alopecia of scalp HP:0004552 rdfs:label nl Alopecia van hoofdhuid met littekenvorming CANDIDATE +en Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin HP:0001075 IAO:0000115 nl Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin NOT_TRANSLATED +en Scheuermann-like vertebral changes HP:0008478 rdfs:label nl Scheuermann-achtige vertebrale veranderingen CANDIDATE +en Schisis (cleft or cleavage) of vertebral bodies HP:0008428 IAO:0000115 nl Schisis (cleft or cleavage) of vertebral bodies NOT_TRANSLATED +en Schistocytosis HP:0001981 rdfs:label nl Schistocytose CANDIDATE +en Schizencephaly HP:0010636 rdfs:label nl Schizencephalie CANDIDATE +en Schizophrenia HP:0100753 rdfs:label nl Schizofrenie CANDIDATE +en Schmorl's node HP:0030041 rdfs:label nl Nodulus van Schmorl CANDIDATE +en Schwannoma HP:0100008 rdfs:label nl Schwannoom CANDIDATE +en Sciatica HP:0011868 rdfs:label nl Sciatica CANDIDATE +en Scimitar anomaly HP:0011626 rdfs:label nl Scimitar anomalie CANDIDATE +en Scintillating scotoma HP:0010822 rdfs:label nl Scintillerend scotoom CANDIDATE +en Scissor gait HP:0012407 rdfs:label nl Scissor gait NOT_TRANSLATED +en Scleral rupture HP:0025513 rdfs:label nl Sclerale ruptuur CANDIDATE +en Scleral schwannoma HP:0100011 rdfs:label nl Scleraal schwannoom CANDIDATE +en Scleral staphyloma HP:0030854 rdfs:label nl Scleraal stafyloom CANDIDATE +en Scleral thickening HP:0030823 rdfs:label nl Sclerale verdikking CANDIDATE +en Scleritis HP:0100532 rdfs:label nl Scleritis CANDIDATE +en Sclerocornea HP:0000647 rdfs:label nl Sclerocornea CANDIDATE +en Sclerodactyly HP:0011838 rdfs:label nl Sclerodactylie CANDIDATE +en Scleroderma HP:0100324 rdfs:label nl Sclerodermie CANDIDATE +en Sclerosing cholangitis HP:0030991 rdfs:label nl Scleroserende cholangitis CANDIDATE +en Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity HP:0005652 IAO:0000115 nl Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity NOT_TRANSLATED +en Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity HP:0002634 IAO:0000115 nl Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity NOT_TRANSLATED +en Sclerosis (increased density) affecting vertebral end plates HP:0004576 IAO:0000115 nl Sclerosis (increased density) affecting vertebral end plates NOT_TRANSLATED +en Sclerosis of 2nd finger phalanx HP:0100918 rdfs:label nl Sclerose van 2e vinger falanx CANDIDATE +en Sclerosis of 2nd toe phalanx HP:0100926 rdfs:label nl Sclerose van 2e teen falanx CANDIDATE +en Sclerosis of 3rd finger phalanx HP:0100919 rdfs:label nl Sclerose van 3e vinger falanx CANDIDATE +en Sclerosis of 3rd toe phalanx HP:0100927 rdfs:label nl Sclerose van 3e teen falanx CANDIDATE +en Sclerosis of 4th finger phalanx HP:0100920 rdfs:label nl Sclerose van 4e vinger falanx CANDIDATE +en Sclerosis of 4th toe phalanx HP:0100928 rdfs:label nl Sclerose van 4e teen falanx CANDIDATE +en Sclerosis of 5th finger phalanx HP:0100921 rdfs:label nl Sclerose van 5e vinger falanx CANDIDATE +en Sclerosis of 5th toe phalanx HP:0100929 rdfs:label nl Sclerose van 5e teen falanx CANDIDATE +en Sclerosis of distal finger phalanx HP:0100915 rdfs:label nl Sclerose van distale vinger falanx CANDIDATE +en Sclerosis of distal toe phalanx HP:0100948 rdfs:label nl Sclerose van distale teen falanx CANDIDATE +en Sclerosis of finger phalanx HP:0100899 rdfs:label nl Sclerose van falanx van vinger CANDIDATE +en Sclerosis of foot bone HP:0100925 rdfs:label nl Sclerose van voetbot CANDIDATE +en Sclerosis of hallux phalanx HP:0100930 rdfs:label nl Sclerose van hallux falanx CANDIDATE +en Sclerosis of hand bone HP:0004054 rdfs:label nl Sclerose van hand bot CANDIDATE +en Sclerosis of hand bones with transverse striations HP:0004290 rdfs:label nl Sclerose van hand botten met dwarse strepen CANDIDATE +en Sclerosis of humeral diaphysis HP:0003933 rdfs:label nl Sclerose van diafyse van humerus CANDIDATE +en Sclerosis of metaphyses of the upper limbs HP:0003854 rdfs:label nl Sclerose van metafysen van bovenste ledematen CANDIDATE +en Sclerosis of middle finger phalanx HP:0100916 rdfs:label nl Sclerose van middelvinger falanx CANDIDATE +en Sclerosis of middle toe phalanx HP:0100947 rdfs:label nl Sclerose van middelste teen falanx CANDIDATE +en Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009692 IAO:0000115 nl Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of proximal finger phalanx HP:0100917 rdfs:label nl Sclerose van proximale vinger falanx CANDIDATE +en Sclerosis of proximal toe phalanx HP:0100946 rdfs:label nl Sclerose van proximale teen falanx CANDIDATE +en Sclerosis of skull base HP:0002694 rdfs:label nl Sclerose van schedel basis CANDIDATE +en Sclerosis of the 1st metacarpal HP:0100914 rdfs:label nl Sclerose van de 1e metacarpaal CANDIDATE +en Sclerosis of the 1st metatarsal HP:0100945 rdfs:label nl Sclerose van de 1e metatarsaal CANDIDATE +en Sclerosis of the carpal bones HP:0500031 rdfs:label nl Sclerose van de carpale botten CANDIDATE +en Sclerosis of the distal phalanx of the 2nd finger HP:0100900 rdfs:label nl Sclerose van de distale falanx van de 2e vinger CANDIDATE +en Sclerosis of the distal phalanx of the 2nd toe HP:0100939 rdfs:label nl Sclerose van de distale falanx van de 2e teen CANDIDATE +en Sclerosis of the distal phalanx of the 3rd finger HP:0100901 rdfs:label nl Sclerose van de distale falanx van de 3e vinger CANDIDATE +en Sclerosis of the distal phalanx of the 3rd toe HP:0100940 rdfs:label nl Sclerose van de distale falanx van de 3e teen CANDIDATE +en Sclerosis of the distal phalanx of the 4th finger HP:0100902 rdfs:label nl Sclerose van de distale falanx van de 4e vinger CANDIDATE +en Sclerosis of the distal phalanx of the 4th toe HP:0100941 rdfs:label nl Sclerose van de distale falanx van de 4e teen CANDIDATE +en Sclerosis of the distal phalanx of the 5th finger HP:0100903 rdfs:label nl Sclerose van de distale falanx van de 5e vinger CANDIDATE +en Sclerosis of the distal phalanx of the 5th toe HP:0100942 rdfs:label nl Sclerose van de distale falanx van de 5e teen CANDIDATE +en Sclerosis of the distal phalanx of the hallux HP:0100944 rdfs:label nl Sclerose van de distale falanx van de hallux CANDIDATE +en Sclerosis of the distal phalanx of the thumb HP:0100912 rdfs:label nl Sclerose van de distale falanx van de duim CANDIDATE +en Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009494 IAO:0000115 nl Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009416 IAO:0000115 nl Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009399 IAO:0000115 nl Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009388 IAO:0000115 nl Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009191 IAO:0000115 nl Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0010234 IAO:0000115 nl Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0010583 IAO:0000115 nl Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009508 IAO:0000115 nl Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009341 IAO:0000115 nl Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0004223 IAO:0000115 nl Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009256 IAO:0000115 nl Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009681 IAO:0000115 nl Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009327 IAO:0000115 nl Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009209 IAO:0000115 nl Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009220 IAO:0000115 nl Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009352 IAO:0000115 nl Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009157 IAO:0000115 nl Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009267 IAO:0000115 nl Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays HP:0009670 IAO:0000115 nl Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays NOT_TRANSLATED +en Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices HP:0031015 IAO:0000115 nl Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices NOT_TRANSLATED +en Sclerosis of the middle phalanx of the 2nd finger HP:0100904 rdfs:label nl Sclerose van de middelste falanx van de 2e vinger CANDIDATE +en Sclerosis of the middle phalanx of the 2nd toe HP:0100935 rdfs:label nl Sclerose van de middelste falanx van de 2e teen CANDIDATE +en Sclerosis of the middle phalanx of the 3rd finger HP:0100905 rdfs:label nl Sclerose van de middelste falanx van de 3e vinger CANDIDATE +en Sclerosis of the middle phalanx of the 3rd toe HP:0100936 rdfs:label nl Sclerose van de middelste falanx van de 3e teen CANDIDATE +en Sclerosis of the middle phalanx of the 4th finger HP:0100906 rdfs:label nl Sclerose van de middelste falanx van de 4e vinger CANDIDATE +en Sclerosis of the middle phalanx of the 4th toe HP:0100937 rdfs:label nl Sclerose van de middelste falanx van de 4e teen CANDIDATE +en Sclerosis of the middle phalanx of the 5th finger HP:0100907 rdfs:label nl Sclerose van de middelste falanx van de 5e vinger CANDIDATE +en Sclerosis of the middle phalanx of the 5th toe HP:0100938 rdfs:label nl Sclerose van de middelste falanx van de 5e teen CANDIDATE +en Sclerosis of the proximal phalanx of the 2nd finger HP:0100908 rdfs:label nl Sclerose van de proximale falanx van de 2e vinger CANDIDATE +en Sclerosis of the proximal phalanx of the 2nd toe HP:0100931 rdfs:label nl Sclerose van de proximale falanx van de 2e teen CANDIDATE +en Sclerosis of the proximal phalanx of the 3rd finger HP:0100909 rdfs:label nl Sclerose van de proximale falanx van de 3e teen CANDIDATE +en Sclerosis of the proximal phalanx of the 3rd toe HP:0100932 rdfs:label nl Sclerose van de proximale falanx van de 3e teen CANDIDATE +en Sclerosis of the proximal phalanx of the 4th finger HP:0100910 rdfs:label nl Sclerose van de proximale falanx van de 4e vinger CANDIDATE +en Sclerosis of the proximal phalanx of the 4th toe HP:0100933 rdfs:label nl Sclerose van de proximale falanx van de 4e teen CANDIDATE +en Sclerosis of the proximal phalanx of the 5th finger HP:0100911 rdfs:label nl Sclerose van de proximale falanx van de 5e vinger CANDIDATE +en Sclerosis of the proximal phalanx of the 5th toe HP:0100934 rdfs:label nl Sclerose van de proximale falanx van de 5e teen CANDIDATE +en Sclerosis of the proximal phalanx of the hallux HP:0100943 rdfs:label nl Sclerose van de proximale falanx van de hallux CANDIDATE +en Sclerosis of the proximal phalanx of the thumb HP:0100913 rdfs:label nl Sclerose van de proximale falanx van de duim CANDIDATE +en Sclerosis of thumb phalanx HP:0100922 rdfs:label nl Sclerose van duim falanx CANDIDATE +en Sclerosis of toe phalanx HP:0100924 rdfs:label nl Sclerose van teen falanx CANDIDATE +en Sclerosis with transverse striations in metaphyses of the upper limbs HP:0003853 rdfs:label nl Sclerose met transverse strepen in epifysen van bovenste ledematen CANDIDATE +en Sclerotic cranial sutures HP:0005441 rdfs:label nl Sclerotische craniale suturen CANDIDATE +en Sclerotic foci in forearm bones HP:0003966 rdfs:label nl Sclerotische foci in botten van onderarm CANDIDATE +en Sclerotic foci in hand bones HP:0004289 rdfs:label nl Sclerotische foci in hand botten CANDIDATE +en Sclerotic foci of humeral diaphysis HP:0003932 rdfs:label nl Sclerotische foci van diafyse van humerus CANDIDATE +en Sclerotic foci of metaphyses of the elbow HP:0003952 rdfs:label nl Sclerotische foci van metaphysen van de elleboog CANDIDATE +en Sclerotic foci of the humerus HP:0003880 rdfs:label nl Sclerotische foci van de humerus CANDIDATE +en Sclerotic foci within carpal bones HP:0004240 rdfs:label nl Sclerotische foci in carpale botten CANDIDATE +en Sclerotic forearm bones HP:0003967 rdfs:label nl Sclerotische botten van onderarm CANDIDATE +en Sclerotic humeral metaphysis HP:0003918 rdfs:label nl Sclerotische metafyse van de humerus CANDIDATE +en Sclerotic humeral metaphysis with longitudinal striations HP:0003919 rdfs:label nl Sclerotische metafyse van humerus met longitudinale strepen CANDIDATE +en Sclerotic radial epiphyses HP:0004007 rdfs:label nl Sclerotische epifysen van de radius CANDIDATE +en Sclerotic radial metaphysis with longitudinal striations HP:0004022 rdfs:label nl Sclerotische metafyse van de radius met longitudinale strepen CANDIDATE +en Sclerotic scapulae HP:0001474 rdfs:label nl Sclerotische scapulae CANDIDATE +en Sclerotic vertebral body HP:0100861 rdfs:label nl Wervellichaam sclerose CANDIDATE +en Sclerotic vertebral endplates HP:0004576 rdfs:label nl Sclerotische vertebrale eindplaten CANDIDATE +en Scoliosis HP:0002650 rdfs:label nl Scoliose CANDIDATE +en Scotoma HP:0000575 rdfs:label nl Scotoom CANDIDATE +en Screwdriver-shaped incisors HP:0006346 rdfs:label nl Schroevendraaier-vormige snijtanden CANDIDATE +en Scrotal hyperpigmentation HP:0012855 rdfs:label nl Scrotale hyperpigmentatie CANDIDATE +en Scrotal hypospadias HP:0012853 rdfs:label nl Scrotale hypospadieën CANDIDATE +en Scrotal pain HP:0030155 rdfs:label nl Scrotale pijn CANDIDATE +en Scrotum in a position other than the usual position inferior to the base of the penis HP:0030275 IAO:0000115 nl Scrotum in a position other than the usual position inferior to the base of the penis NOT_TRANSLATED +en Sea-blue histiocytosis HP:0001982 rdfs:label nl Zee-blauwe histiocytose CANDIDATE +en Seafood allergy HP:0410333 rdfs:label nl Seafood allergy NOT_TRANSLATED +en Seasonal allergy HP:0012395 rdfs:label nl Seizoensgebonden allergie CANDIDATE +en Sebaceous gland carcinoma HP:0030410 rdfs:label nl Talgklier carcinoom CANDIDATE +en Sebaceous hyperplasia HP:0032227 rdfs:label nl Sebaceous hyperplasia NOT_TRANSLATED +en Seborrheic dermatitis HP:0001051 rdfs:label nl Seborrheic dermatitis (Seborroïsch eczeem) CANDIDATE +en Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk HP:0001051 IAO:0000115 nl Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk NOT_TRANSLATED +en Seborrheic dermatitis that is not localized to any one particular region HP:0007569 IAO:0000115 nl Seborrheic dermatitis that is not localized to any one particular region NOT_TRANSLATED +en Seborrheic keratosis HP:0031287 rdfs:label nl Seborroïsche keratose CANDIDATE +en Seborrhoeic blepharitis HP:0500046 rdfs:label nl Seborrhoeic blepharitis NOT_TRANSLATED +en Second degree atrioventricular block HP:0011706 rdfs:label nl Tweedegraads atrioventriculair blok CANDIDATE +en Second metatarsal posteriorly placed HP:0008125 rdfs:label nl Second metatarsal posteriorly placed NOT_TRANSLATED +en Second toe symphalangism HP:0010353 rdfs:label nl Symfalangisme van de falangen van de 2e teen CANDIDATE +en Second trimester onset HP:0034198 rdfs:label nl Second trimester onset NOT_TRANSLATED +en Secondary Caesarian section HP:0030364 rdfs:label nl Secundaire sectio caesarea CANDIDATE +en Secondary amenorrhea HP:0000869 rdfs:label nl Secundaire amenorroe CANDIDATE +en Secondary esotropia HP:0031723 rdfs:label nl Sensorische esotropie CANDIDATE +en Secondary growth hormone deficiency HP:0008240 rdfs:label nl Secundaire groeihormoon deficiëntie CANDIDATE +en Secondary hyperaldosteronism HP:0011741 rdfs:label nl Secundair hyperaldosteronisme CANDIDATE +en Secondary hypercortisolism HP:0011744 rdfs:label nl Secundair hypercortisolisme CANDIDATE +en Secondary hyperparathyroidism HP:0000867 rdfs:label nl Secundaire hyperparathyroïdie CANDIDATE +en Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia HP:0000867 IAO:0000115 nl Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia NOT_TRANSLATED +en Secondary microcephaly HP:0005484 rdfs:label nl Postnatale microcefalie CANDIDATE +en Secondary vesicoureteral reflux HP:0033739 rdfs:label nl Secondary vesicoureteral reflux NOT_TRANSLATED +en Secretion of colored sweat HP:0034426 IAO:0000115 nl Secretion of colored sweat NOT_TRANSLATED +en Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion HP:0500013 IAO:0000115 nl Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion NOT_TRANSLATED +en Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together HP:0034427 IAO:0000115 nl Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together NOT_TRANSLATED +en Secretory IgA deficiency HP:0004433 rdfs:label nl Secratoire IgA-deficiëntie CANDIDATE +en Secretory adrenocortical adenoma HP:0011746 rdfs:label nl Secretoir adrenocorticaal adenoom CANDIDATE +en Secretory diarrhea HP:0005208 rdfs:label nl Secretoire diarree CANDIDATE +en Sectoral retinitis pigmentosa HP:0031172 rdfs:label nl Sectorale retinitis pigmentosa CANDIDATE +en Secundum atrial septal defect HP:0001684 rdfs:label nl Secundum atriumseptumdefect CANDIDATE +en Seesaw nystagmus HP:0012044 rdfs:label nl Seesaw nystagmus NOT_TRANSLATED +en Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements HP:0012044 IAO:0000115 nl Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements NOT_TRANSLATED +en Segmental accumulation of scar tissue in individual (but not all) glomeruli HP:0000097 IAO:0000115 nl Segmental accumulation of scar tissue in individual (but not all) glomeruli NOT_TRANSLATED +en Segmental fracture HP:4000049 rdfs:label nl Segmental fracture NOT_TRANSLATED +en Segmental glomerulosclerosis HP:0033495 rdfs:label nl Segmental glomerulosclerosis NOT_TRANSLATED +en Segmental glomerulosclerosis away from the vascular and tubular poles HP:0033498 rdfs:label nl Segmental glomerulosclerosis away from the vascular and tubular poles NOT_TRANSLATED +en Segmental hypoplasia of liver HP:0034182 rdfs:label nl Segmental hypoplasia of liver NOT_TRANSLATED +en Segmental peripheral demyelination HP:0007107 rdfs:label nl Segmentale perifere demyelinisatie CANDIDATE +en Segmental peripheral demyelination/remyelination HP:0003481 rdfs:label nl Segmentale perifere demyelinisatie/remyelinisatie CANDIDATE +en Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule HP:0033495 IAO:0000115 nl Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule NOT_TRANSLATED +en Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule HP:0033496 IAO:0000115 nl Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule NOT_TRANSLATED +en Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed HP:0033497 IAO:0000115 nl Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed NOT_TRANSLATED +en Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed HP:0033498 IAO:0000115 nl Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed NOT_TRANSLATED +en Segmental spinal muscular atrophy HP:0009037 rdfs:label nl Segmentale spinale musculaire atrofie CANDIDATE +en Segmentally thickened glomerular basement membrane HP:0033283 rdfs:label nl Segmentally thickened glomerular basement membrane NOT_TRANSLATED +en Seizure HP:0001250 rdfs:label nl Plotselinge aanvallen CANDIDATE +en Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever HP:0032892 IAO:0000115 nl Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever NOT_TRANSLATED +en Seizure cluster HP:0033349 rdfs:label nl Seizure cluster NOT_TRANSLATED +en Seizure precipitated by febrile infection HP:0032894 rdfs:label nl Seizure precipitated by febrile infection NOT_TRANSLATED +en Seizure precipitated by listening to music or other complex sounds HP:0032896 IAO:0000115 nl Seizure precipitated by listening to music or other complex sounds NOT_TRANSLATED +en Seizures characterized by olfactory phenomena as its first clinical manifestation HP:0011161 IAO:0000115 nl Seizures characterized by olfactory phenomena as its first clinical manifestation NOT_TRANSLATED +en Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant HP:0032797 IAO:0000115 nl Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant NOT_TRANSLATED +en Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect HP:0020216 IAO:0000115 nl Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect NOT_TRANSLATED +en Seizures induced by thinking and decision-making.ncomment: HP:0020215 IAO:0000115 nl Seizures induced by thinking and decision-making.ncomment: NOT_TRANSLATED +en Seizures precipitated by exogenous stimuli HP:0020207 IAO:0000115 nl Seizures precipitated by exogenous stimuli NOT_TRANSLATED +en Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer HP:0025613 IAO:0000115 nl Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer NOT_TRANSLATED +en Seizures that occur while the affected individual is sleeping HP:0031951 IAO:0000115 nl Seizures that occur while the affected individual is sleeping NOT_TRANSLATED +en Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations) HP:0031165 IAO:0000115 nl Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations) NOT_TRANSLATED +en Selective deficiency of one or more, but not all, classes of immunoglobulins HP:0002961 IAO:0000115 nl Selective deficiency of one or more, but not all, classes of immunoglobulins NOT_TRANSLATED +en Selective mutism HP:5200001 rdfs:label nl Selectief mutisme OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Selective tooth agenesis HP:0001592 rdfs:label nl Selectieve tandagenesie CANDIDATE +en Self hugging HP:0032521 rdfs:label nl Self hugging NOT_TRANSLATED +en Self-biting HP:0012169 rdfs:label nl Zelf bijten CANDIDATE +en Self-healing squamous epithelioma HP:0034720 rdfs:label nl Zelfhelend plaveiselepithelioom OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Self-injurious behavior HP:0100716 rdfs:label nl Zelfbeschadigend gedrag CANDIDATE +en Self-mutilation HP:0000742 rdfs:label nl Zelfverminking CANDIDATE +en Self-mutilation of tongue and lips due to involuntary movements HP:0008767 rdfs:label nl Auto-mutilatie van tong en lippen vanwege onvrijwillige bewegingen CANDIDATE +en Self-neglect HP:0025479 rdfs:label nl Zelfverwaarlozing CANDIDATE +en Semantic dementia HP:0030219 rdfs:label nl Semantische dementie CANDIDATE +en Semidominant inheritance HP:0032113 rdfs:label nl Semidominant inheritance NOT_TRANSLATED +en Semilobar holoprosencephaly HP:0002507 rdfs:label nl Semilobulaire holoprosencefalie CANDIDATE +en Semilunar tooth HP:0033782 rdfs:label nl Semilunar tooth NOT_TRANSLATED +en Senile plaques HP:0100256 rdfs:label nl Seniele plaques CANDIDATE +en Senile plaques are extracellular deposits of amyloid in the gray matter of the brain HP:0100256 IAO:0000115 nl Senile plaques are extracellular deposits of amyloid in the gray matter of the brain NOT_TRANSLATED +en Sense of impending doom HP:0033845 rdfs:label nl Sense of impending doom NOT_TRANSLATED +en Sensorimotor neuropathy HP:0007141 rdfs:label nl Sensomotorische neuropathie CANDIDATE +en Sensorimotor polyneuropathy affecting arms more than legs HP:0006865 rdfs:label nl Sensomotore polyneuropathie de armen meer aantastend dan de benen CANDIDATE +en Sensorineural hearing impairment HP:0000407 rdfs:label nl Perceptieve slechthorendheid CANDIDATE +en Sensorineural hearing impairment with childhood onset HP:0011474 IAO:0000115 nl Sensorineural hearing impairment with childhood onset NOT_TRANSLATED +en Sensory ataxia HP:0010871 rdfs:label nl Sensorische ataxie CANDIDATE +en Sensory ataxic neuropathy HP:0003434 rdfs:label nl Sensorische atactische neuropathie CANDIDATE +en Sensory axonal neuropathy HP:0003390 rdfs:label nl Sensorische axonale neuropathie CANDIDATE +en Sensory behavioral abnormality HP:5200046 rdfs:label nl Sensorische gedragsafwijking OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Sensory exotropia HP:0031721 rdfs:label nl Sensorische exotropie CANDIDATE +en Sensory neuropathy HP:0000763 rdfs:label nl Sensorische neuropathie CANDIDATE +en Sensory seeking HP:4000079 rdfs:label nl Sensory seeking NOT_TRANSLATED +en Separate origin of the left anterior descending and left circumflex artery HP:0031536 rdfs:label nl Separate origin of the left anterior descending and left circumflex artery NOT_TRANSLATED +en Separation insecurity HP:0031468 rdfs:label nl Separation insecurity NOT_TRANSLATED +en Separation of the inner layers of the retina (neural retina) from the pigment epithelium HP:0000541 IAO:0000115 nl Separation of the inner layers of the retina (neural retina) from the pigment epithelium NOT_TRANSLATED +en Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina HP:0007929 IAO:0000115 nl Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina NOT_TRANSLATED +en Separation of the odontoid process from the body of the axis HP:0005667 IAO:0000115 nl Separation of the odontoid process from the body of the axis NOT_TRANSLATED +en Separation of the placenta from the uterus wall before delivery HP:0011419 IAO:0000115 nl Separation of the placenta from the uterus wall before delivery NOT_TRANSLATED +en Separation of the umbilical cord occurs at an abnormally late timepoint HP:0032434 IAO:0000115 nl Separation of the umbilical cord occurs at an abnormally late timepoint NOT_TRANSLATED +en Separation of the vitreous humor from the retina HP:0001489 IAO:0000115 nl Separation of the vitreous humor from the retina NOT_TRANSLATED +en Sepsis HP:0100806 rdfs:label nl Sepsis CANDIDATE +en Septate gallbladder HP:0034504 rdfs:label nl Septate gallbladder NOT_TRANSLATED +en Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder HP:0034504 IAO:0000115 nl Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder NOT_TRANSLATED +en Septate vagina HP:0001153 rdfs:label nl Septate vagina CANDIDATE +en Septic arthritis HP:0003095 rdfs:label nl Septische artritis CANDIDATE +en Septic embolism HP:0033553 rdfs:label nl Septic embolism NOT_TRANSLATED +en Septic pulmonary embolism HP:0033639 rdfs:label nl Septic pulmonary embolism NOT_TRANSLATED +en Septo-optic dysplasia HP:0100842 rdfs:label nl Septo-optische dysplasie CANDIDATE +en Serinuria HP:0032349 rdfs:label nl Serinuria NOT_TRANSLATED +en Serositis HP:0045073 rdfs:label nl Serositis CANDIDATE +en Serous pericardial effusion HP:0011853 rdfs:label nl Sereuze pericardiale effusie CANDIDATE +en Serpentine fibula HP:0030045 rdfs:label nl Kronkelende fibula CANDIDATE +en Serpiginous crus of helix HP:0011257 rdfs:label nl Serpigineuze crus helicis CANDIDATE +en Serpiginous cutaneous lesion HP:0025527 rdfs:label nl Serpigineuze cutane laesie CANDIDATE +en Serpiginous stem of antihelix HP:0011241 rdfs:label nl Serpigineuze stam van antihelix CANDIDATE +en Serrated incisors HP:0034270 rdfs:label nl Serrated incisors NOT_TRANSLATED +en Serrated intestinal polyps HP:0032222 rdfs:label nl Serrated intestinal polyps NOT_TRANSLATED +en Sertoli cell neoplasm HP:0100619 rdfs:label nl Sertoli cel neoplasma CANDIDATE +en Sertoli cell-only phenotype HP:0034299 rdfs:label nl Sertoli cell-only phenotype NOT_TRANSLATED +en Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level HP:0031028 IAO:0000115 nl Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level NOT_TRANSLATED +en Setting-sun eye phenomenon HP:0012470 rdfs:label nl Ondergaande zonfenomeen CANDIDATE +en Severe HP:0012828 rdfs:label nl Ernstig CANDIDATE +en Severe B lymphocytopenia HP:0005365 rdfs:label nl Ernstige B lymfocytopenie CANDIDATE +en Severe Epstein Barr virus infection HP:0031693 rdfs:label nl Ernstige EBV infectie CANDIDATE +en Severe SARS-CoV-2 infection HP:0033141 rdfs:label nl Severe SARS-CoV-2 infection NOT_TRANSLATED +en Severe T-cell immunodeficiency HP:0005352 rdfs:label nl Ernstige T-cell immuundeficiëntie CANDIDATE +en Severe adenovirus infection HP:0031694 rdfs:label nl Ernstige adenovirus infectie CANDIDATE +en Severe albuminuria HP:0033066 rdfs:label nl Severe albuminuria NOT_TRANSLATED +en Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine HP:0012653 IAO:0000115 nl Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine NOT_TRANSLATED +en Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever HP:0025145 IAO:0000115 nl Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever NOT_TRANSLATED +en Severe combined immunodeficiency HP:0004430 rdfs:label nl Severe combined immunodeficiency CANDIDATE +en Severe conductive hearing impairment HP:0012717 rdfs:label nl Ernstige conductieve slechthorendheid CANDIDATE +en Severe constriction of peripheral visual field HP:0030526 rdfs:label nl Perifere gezichtsveld beperking met 10-20 graden centraal gespaard CANDIDATE +en Severe cytomegalovirus infection HP:0031692 rdfs:label nl Ernstige cytomegalovirus infectie CANDIDATE +en Severe degree of osteoporosis HP:0005897 IAO:0000115 nl Severe degree of osteoporosis NOT_TRANSLATED +en Severe demyelination of the white matter HP:0007258 rdfs:label nl Ernstige demyelinisatie van de witte stof CANDIDATE +en Severe distention of the kidney with dilation of the renal pelvis and calices HP:0000126 IAO:0000115 nl Severe distention of the kidney with dilation of the renal pelvis and calices NOT_TRANSLATED +en Severe expressive language delay HP:0006863 rdfs:label nl Ernstige expressieve taalachterstand CANDIDATE +en Severe failure to thrive HP:0001525 rdfs:label nl Ernstige groeiachterstand CANDIDATE +en Severe generalized osteoporosis HP:0005897 rdfs:label nl Ernstige gegeneraliseerde osteoporose CANDIDATE +en Severe giardiasis HP:0020106 rdfs:label nl Severe giardiasis NOT_TRANSLATED +en Severe global developmental delay HP:0011344 rdfs:label nl Ernstige globale vertraging in de ontwikkeling CANDIDATE +en Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days HP:0030907 IAO:0000115 nl Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days NOT_TRANSLATED +en Severe hearing impairment HP:0012714 rdfs:label nl Ernstige slechthorendheid CANDIDATE +en Severe hydrocephalus HP:0006882 rdfs:label nl Ernstige hydrocephalus CANDIDATE +en Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle HP:0034331 IAO:0000115 nl Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle NOT_TRANSLATED +en Severe infection HP:0032169 rdfs:label nl Severe infection NOT_TRANSLATED +en Severe influenza infection HP:0034249 rdfs:label nl Severe influenza infection NOT_TRANSLATED +en Severe intrauterine growth retardation HP:0008846 rdfs:label nl Ernstige intra-uteriene groeiretardatie CANDIDATE +en Severe lactic acidosis HP:0004900 rdfs:label nl Ernstige lactaat acidose CANDIDATE +en Severe limb shortening HP:0200083 rdfs:label nl Ernstige ledemaat verkorting CANDIDATE +en Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy HP:0001117 IAO:0000115 nl Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy NOT_TRANSLATED +en Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34 HP:0010864 IAO:0000115 nl Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34 NOT_TRANSLATED +en Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements HP:0045028 IAO:0000115 nl Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements NOT_TRANSLATED +en Severe muscular hypotonia HP:0006829 rdfs:label nl Ernstige musculaire hypotonie CANDIDATE +en Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit HP:0030817 IAO:0000115 nl Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit NOT_TRANSLATED +en Severe norovirus infection HP:0020099 rdfs:label nl Severe norovirus infection NOT_TRANSLATED +en Severe or complete weakness of both lower extremities with sparing of the upper extremities HP:0010550 IAO:0000115 nl Severe or complete weakness of both lower extremities with sparing of the upper extremities NOT_TRANSLATED +en Severe parainfluenza infection HP:0031695 rdfs:label nl Ernstige parainfluenza infectie CANDIDATE +en Severe periodontitis HP:0000166 rdfs:label nl Ernstige pariodontitis CANDIDATE +en Severe photosensitivity HP:0007537 rdfs:label nl Ernstige fotosensitiviteit CANDIDATE +en Severe platyspondyly HP:0004565 rdfs:label nl Ernstige platyspondylie CANDIDATE +en Severe postnatal growth retardation HP:0008850 rdfs:label nl Ernstige postnatale groeiretardatie CANDIDATE +en Severe receptive language delay HP:0011352 rdfs:label nl Ernstige receptieve taalachterstand CANDIDATE +en Severe recurrent varicella HP:0005428 rdfs:label nl Ernstige recidiverende varicella CANDIDATE +en Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation) HP:0001141 IAO:0000115 nl Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation) NOT_TRANSLATED +en Severe sensorineural hearing impairment HP:0008625 rdfs:label nl Ernstige perceptieve slechthorendheid CANDIDATE +en Severe short stature HP:0003510 rdfs:label nl Ernstige kleine lengte CANDIDATE +en Severe short-limb dwarfism HP:0008890 rdfs:label nl Ernstige korte-ledemaat dwerggroei CANDIDATE +en Severe temper tantrums HP:0025162 rdfs:label nl Ernstige driftbuien CANDIDATE +en Severe toxoplasmosis HP:0020105 rdfs:label nl Severe toxoplasmosis NOT_TRANSLATED +en Severe varicella zoster infection HP:0032170 rdfs:label nl Severe varicella zoster infection NOT_TRANSLATED +en Severe vesicoureteral reflux reaching the kidney parenchyma HP:0033742 IAO:0000115 nl Severe vesicoureteral reflux reaching the kidney parenchyma NOT_TRANSLATED +en Severe viral infection HP:0031691 rdfs:label nl Ernstige virale infectie CANDIDATE +en Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease HP:0004326 IAO:0000115 nl Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease NOT_TRANSLATED +en Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume HP:0030149 IAO:0000115 nl Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume NOT_TRANSLATED +en Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children HP:0012593 IAO:0000115 nl Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children NOT_TRANSLATED +en Severely increased levels of protein in the urine (1000-3000 mg per day in adults) HP:0012597 IAO:0000115 nl Severely increased levels of protein in the urine (1000-3000 mg per day in adults) NOT_TRANSLATED +en Severely reduced contrast sensitivity HP:0032110 rdfs:label nl Severely reduced contrast sensitivity NOT_TRANSLATED +en Severely reduced left ventricular ejection fraction HP:0012666 rdfs:label nl Ernstig verminderde ejectiefractie CANDIDATE +en Severely reduced visual acuity HP:0001141 rdfs:label nl Ernstige visuele beperking CANDIDATE +en Severely shortened metacarpal with a cuboidal appearance HP:0006011 IAO:0000115 nl Severely shortened metacarpal with a cuboidal appearance NOT_TRANSLATED +en Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms HP:0008850 IAO:0000115 nl Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms NOT_TRANSLATED +en Severity HP:0012824 rdfs:label nl Ernst CANDIDATE +en Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex HP:0001470 IAO:0000115 nl Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex NOT_TRANSLATED +en Sex reversal HP:0012245 rdfs:label nl Geslachtsomkering CANDIDATE +en Sex-limited expression HP:0001470 rdfs:label nl Geslachtsbeperkt autosomaal dominant CANDIDATE +en Shagreen patch HP:0009721 rdfs:label nl Shagreen patch CANDIDATE +en Shallow acetabular fossae HP:0003182 rdfs:label nl Ondiepe acetabulaire fossae CANDIDATE +en Shallow anterior chamber HP:0000594 rdfs:label nl Ondiepe voorste kamer CANDIDATE +en Shallow orbits HP:0000586 rdfs:label nl Ondiepe oogkassen CANDIDATE +en Shark teeth HP:4000168 rdfs:label nl Haaientanden OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Sharp HP:0025281 rdfs:label nl Scherp CANDIDATE +en Sharp pointed superior portion of the ear, with variable overfolding of the helix HP:0030676 IAO:0000115 nl Sharp pointed superior portion of the ear, with variable overfolding of the helix NOT_TRANSLATED +en Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium HP:0031609 IAO:0000115 nl Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium NOT_TRANSLATED +en Sharply demarcated hyperpigmentation which is congenital HP:0011529 IAO:0000115 nl Sharply demarcated hyperpigmentation which is congenital NOT_TRANSLATED +en Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance HP:0011528 IAO:0000115 nl Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance NOT_TRANSLATED +en Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium HP:0007649 IAO:0000115 nl Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium NOT_TRANSLATED +en Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe HP:0009908 IAO:0000115 nl Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe NOT_TRANSLATED +en Shawl scrotum HP:0000049 rdfs:label nl Shawl scrotum CANDIDATE +en Shawl sign HP:0025535 rdfs:label nl Shawl sign CANDIDATE +en Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor HP:0012634 IAO:0000115 nl Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor NOT_TRANSLATED +en Shield chest HP:0000914 rdfs:label nl Schildborst CANDIDATE +en Shivering HP:0025144 rdfs:label nl Rillen CANDIDATE +en Shock HP:0031273 rdfs:label nl Shock CANDIDATE +en Shoe-shaped sella turcica HP:0005723 rdfs:label nl Schoen-vormige sella turcica CANDIDATE +en Short (hypoplastic) fifth metatarsal bone HP:0004704 IAO:0000115 nl Short (hypoplastic) fifth metatarsal bone NOT_TRANSLATED +en Short (hypoplastic) middle phalanx of finger, affecting one or more fingers HP:0005819 IAO:0000115 nl Short (hypoplastic) middle phalanx of finger, affecting one or more fingers NOT_TRANSLATED +en Short (hypoplastic) phalanx of finger, affecting one or more phalanges HP:0009803 IAO:0000115 nl Short (hypoplastic) phalanx of finger, affecting one or more phalanges NOT_TRANSLATED +en Short (hypoplastic) second metatarsal bone HP:0011845 IAO:0000115 nl Short (hypoplastic) second metatarsal bone NOT_TRANSLATED +en Short 1st metacarpal HP:0010034 rdfs:label nl Korte 1e metacarpaal CANDIDATE +en Short 2nd finger HP:0009536 rdfs:label nl Korte tweede vinger CANDIDATE +en Short 2nd metacarpal HP:0010038 rdfs:label nl Korte 2e metacarpaal CANDIDATE +en Short 2nd toe HP:0001885 rdfs:label nl Korte tweede teen CANDIDATE +en Short 3rd finger HP:0009461 rdfs:label nl Korte 3e vinger CANDIDATE +en Short 3rd metacarpal HP:0010041 rdfs:label nl Korte 3e metacarpaal CANDIDATE +en Short 3rd toe HP:0005643 rdfs:label nl Korte 3e teen CANDIDATE +en Short 4th finger HP:0009280 rdfs:label nl Korte 4e vinger CANDIDATE +en Short 4th metacarpal HP:0010044 rdfs:label nl Korte 4e metacarpaal CANDIDATE +en Short 4th toe HP:0008093 rdfs:label nl Korte 4e teen CANDIDATE +en Short 5th finger HP:0009237 rdfs:label nl Korte 5e vinger CANDIDATE +en Short 5th metacarpal HP:0010047 rdfs:label nl Korte 5e metacarpaal CANDIDATE +en Short 5th toe HP:0011917 rdfs:label nl Korte 5e teen CANDIDATE +en Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009837 IAO:0000115 nl Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction HP:0009853 IAO:0000115 nl Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction NOT_TRANSLATED +en Short attention span HP:0000736 rdfs:label nl Korte concentratieperiode CANDIDATE +en Short chin HP:0000331 rdfs:label nl Korte kin CANDIDATE +en Short chordae tendineae of the mitral valve HP:0011580 rdfs:label nl Korte chordae tendineae van de mitralisklep CANDIDATE +en Short chordae tendineae of the tricuspid valve HP:0006692 rdfs:label nl Korte chordae tendineae van de tricuspidalisklep CANDIDATE +en Short clavicles HP:0000894 rdfs:label nl Korte sleutelbeenderen CANDIDATE +en Short columella HP:0002000 rdfs:label nl Korte columella CANDIDATE +en Short corpus callosum HP:0200012 rdfs:label nl Kort corpus callosum CANDIDATE +en Short dental root HP:0006336 rdfs:label nl Korte tandheelkundige wortels CANDIDATE +en Short diaphyses HP:0000941 rdfs:label nl Korte diafyses CANDIDATE +en Short digit HP:0011927 rdfs:label nl Korte vinger/teen CANDIDATE +en Short distal phalanx of finger HP:0009882 rdfs:label nl Korte distale falanx van de vinger CANDIDATE +en Short distal phalanx of hallux HP:0010103 rdfs:label nl Korte distale falanx van hallux CANDIDATE +en Short distal phalanx of the 2nd finger HP:0009566 rdfs:label nl Korte distale falanx van de 2e vinger CANDIDATE +en Short distal phalanx of the 2nd toe HP:0010433 rdfs:label nl Korte distale falanx van de 2e teen CANDIDATE +en Short distal phalanx of the 3rd finger HP:0004180 rdfs:label nl Korte distale falanx van de 3e vinger CANDIDATE +en Short distal phalanx of the 3rd toe HP:0100389 rdfs:label nl Korte distale falanx van de 3e teen CANDIDATE +en Short distal phalanx of the 4th finger HP:0009290 rdfs:label nl Korte distale falanx van de 4e vinger CANDIDATE +en Short distal phalanx of the 4th toe HP:0100390 rdfs:label nl Korte distale falanx van de 4e teen CANDIDATE +en Short distal phalanx of the 5th finger HP:0004227 rdfs:label nl Korte distale falanx van de 5e vinger CANDIDATE +en Short distal phalanx of the 5th toe HP:0100391 rdfs:label nl Korte distale falanx van de 5e teen CANDIDATE +en Short distal phalanx of the thumb HP:0009650 rdfs:label nl Korte distale falanx van de duim CANDIDATE +en Short distal phalanx of toe HP:0001857 rdfs:label nl Korte distale falanx van teen CANDIDATE +en Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger HP:0009882 IAO:0000115 nl Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger NOT_TRANSLATED +en Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe HP:0001857 IAO:0000115 nl Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe NOT_TRANSLATED +en Short ear HP:0400005 rdfs:label nl Kort oor CANDIDATE +en Short eyelashes HP:0010764 rdfs:label nl Korte wimpers CANDIDATE +en Short face HP:0011219 rdfs:label nl Kort gezicht CANDIDATE +en Short femoral neck HP:0100864 rdfs:label nl Korte collum CANDIDATE +en Short femur HP:0003097 rdfs:label nl Kort femur CANDIDATE +en Short fetal femur length HP:0011428 rdfs:label nl Korte foetale femur lengte CANDIDATE +en Short fetal humerus length HP:0011429 rdfs:label nl Korte foetale humerus lengte CANDIDATE +en Short fifth metacarpal bone HP:0010047 IAO:0000115 nl Short fifth metacarpal bone NOT_TRANSLATED +en Short fifth metatarsal HP:0004704 rdfs:label nl Korte vijfde metatarsaal CANDIDATE +en Short finger HP:0009381 rdfs:label nl Korte vinger CANDIDATE +en Short first metatarsal HP:0010105 rdfs:label nl Korte eerste metatarsaal CANDIDATE +en Short first metatarsal bone HP:0010105 IAO:0000115 nl Short first metatarsal bone NOT_TRANSLATED +en Short foot HP:0001773 rdfs:label nl Korte voet CANDIDATE +en Short forearm HP:0005773 rdfs:label nl Korte onderarm CANDIDATE +en Short fourth metacarpal bone HP:0010044 IAO:0000115 nl Short fourth metacarpal bone NOT_TRANSLATED +en Short fourth metatarsal HP:0004689 rdfs:label nl Korte vierde metatarsaal CANDIDATE +en Short fourth metatarsal bone HP:0004689 IAO:0000115 nl Short fourth metatarsal bone NOT_TRANSLATED +en Short greater sciatic notch HP:0003185 rdfs:label nl Korte incisura ischiadica CANDIDATE +en Short hallux HP:0010109 rdfs:label nl Korte hallux CANDIDATE +en Short hard palate HP:0010290 rdfs:label nl Kort hard palatum CANDIDATE +en Short humerus HP:0005792 rdfs:label nl Korte humerus CANDIDATE +en Short iliac bones HP:0100866 rdfs:label nl Kort os illium CANDIDATE +en Short intermamillary distance HP:0040158 rdfs:label nl Korte intermamillaire afstand CANDIDATE +en Short lingual frenulum HP:0000200 rdfs:label nl Korte tongriem CANDIDATE +en Short long bone HP:0003026 rdfs:label nl Kort lang bot CANDIDATE +en Short lower eyelashes HP:0040055 rdfs:label nl Korte onderste wimpers CANDIDATE +en Short lower limbs HP:0006385 rdfs:label nl Korte onderste ledematen CANDIDATE +en Short mandibular condyles HP:0005790 rdfs:label nl Korte mandibulaire condylus CANDIDATE +en Short mandibular rami HP:0003778 rdfs:label nl Korte ramus mandibulae CANDIDATE +en Short metacarpal HP:0010049 rdfs:label nl Korte metacarpaal CANDIDATE +en Short metacarpals with rounded proximal ends HP:0006161 rdfs:label nl Korte metacarpalen met ronde proximale uiteinden CANDIDATE +en Short metatarsal HP:0010743 rdfs:label nl Korte metatarsaal CANDIDATE +en Short middle phalanx of finger HP:0005819 rdfs:label nl Korte middelste falanx van vinger CANDIDATE +en Short middle phalanx of the 2nd finger HP:0009577 rdfs:label nl Korte middelste falanx van de 2e vinger CANDIDATE +en Short middle phalanx of the 2nd toe HP:0010435 rdfs:label nl Korte middelste falanx van de 2e teen CANDIDATE +en Short middle phalanx of the 3rd finger HP:0009439 rdfs:label nl Korte middelste falanx van de 3e vinger CANDIDATE +en Short middle phalanx of the 3rd toe HP:0100392 rdfs:label nl Korte middelste falanx van de 3e teen CANDIDATE +en Short middle phalanx of the 4th finger HP:0009295 rdfs:label nl Korte middelste falanx van de 4e vinger CANDIDATE +en Short middle phalanx of the 4th toe HP:0100393 rdfs:label nl Korte middelste falanx van de 4e teen CANDIDATE +en Short middle phalanx of the 5th finger HP:0004220 rdfs:label nl Korte middelste falanx van de 5e vinger CANDIDATE +en Short middle phalanx of the 5th toe HP:0100394 rdfs:label nl Korte middelste falanx van de 5e teen CANDIDATE +en Short middle phalanx of toe HP:0003795 rdfs:label nl Korte middelste falanx van teen CANDIDATE +en Short nail HP:0001799 rdfs:label nl Korte nagel CANDIDATE +en Short nasal bridge HP:0003194 rdfs:label nl Korte neusrug CANDIDATE +en Short nasal septum HP:0000420 rdfs:label nl Kort neustussenschot CANDIDATE +en Short neck HP:0000470 rdfs:label nl Korte nek CANDIDATE +en Short nose HP:0003196 rdfs:label nl Korte neus CANDIDATE +en Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue HP:0010296 IAO:0000115 nl Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue NOT_TRANSLATED +en Short palm HP:0004279 IAO:0000115 nl Short palm NOT_TRANSLATED +en Short palm HP:0004279 rdfs:label nl Korte handpalm CANDIDATE +en Short palpebral fissure HP:0012745 rdfs:label nl Korte ooglidspleet CANDIDATE +en Short phalanx of finger HP:0009803 rdfs:label nl Kort falanx van vinger CANDIDATE +en Short phalanx of hallux HP:0010111 rdfs:label nl Kort falanx van hallux CANDIDATE +en Short phalanx of the 2nd toe HP:0010431 rdfs:label nl Korte falanx van de 2e teen CANDIDATE +en Short phalanx of the 3rd toe HP:0100366 rdfs:label nl Korte falanx van de 3e teen CANDIDATE +en Short phalanx of the 4th toe HP:0100367 rdfs:label nl Korte falanx van de 4e teen CANDIDATE +en Short phalanx of the 5th toe HP:0100368 rdfs:label nl Korte falanx van de 5e teen CANDIDATE +en Short phalanx of the thumb HP:0009660 rdfs:label nl Kort falanx van de duim CANDIDATE +en Short philtrum HP:0000322 rdfs:label nl Kort filtrum CANDIDATE +en Short pointed phalanges HP:0006045 rdfs:label nl Korte puntige falangen CANDIDATE +en Short proximal phalanx of finger HP:0010241 rdfs:label nl Korte proximale falanx van vinger CANDIDATE +en Short proximal phalanx of hallux HP:0010107 rdfs:label nl Korte proximale falanx van hallux CANDIDATE +en Short proximal phalanx of the 2nd finger HP:0009597 rdfs:label nl Korte proximale falanx van de 2e vinger CANDIDATE +en Short proximal phalanx of the 2nd toe HP:0010437 rdfs:label nl Korte proximale falanx van de 2e teen CANDIDATE +en Short proximal phalanx of the 3rd finger HP:0009459 rdfs:label nl Korte proximale falanx van de 3e vinger CANDIDATE +en Short proximal phalanx of the 3rd toe HP:0100395 rdfs:label nl Korte proximale falanx van de 3e teen CANDIDATE +en Short proximal phalanx of the 4th finger HP:0009301 rdfs:label nl Korte proximale falanx van de 4e vinger CANDIDATE +en Short proximal phalanx of the 4th toe HP:0100396 rdfs:label nl Korte proximale falanx van de 4e teen CANDIDATE +en Short proximal phalanx of the 5th finger HP:0009226 rdfs:label nl Korte proximale falanx van de 5e vinger CANDIDATE +en Short proximal phalanx of the 5th toe HP:0100397 rdfs:label nl Korte proximale falanx van de 5e teen CANDIDATE +en Short proximal phalanx of thumb HP:0009638 rdfs:label nl Korte proximale falanx van de duim CANDIDATE +en Short proximal phalanx of toe HP:0011928 rdfs:label nl Korte proximale falanx van de teen CANDIDATE +en Short ribs HP:0000773 rdfs:label nl Korte ribben CANDIDATE +en Short second metacarpal bone because of developmental hypoplasia HP:0010038 IAO:0000115 nl Short second metacarpal bone because of developmental hypoplasia NOT_TRANSLATED +en Short second metatarsal HP:0011845 rdfs:label nl Korte tweede metatarsaal CANDIDATE +en Short sperm flagella HP:0032559 rdfs:label nl Short sperm flagella NOT_TRANSLATED +en Short stature HP:0004322 rdfs:label nl Kleine lengte CANDIDATE +en Short stepped shuffling gait HP:0007311 rdfs:label nl Schuifelende gang met kleine stappen CANDIDATE +en Short sternum HP:0000879 rdfs:label nl Kort borstbeen CANDIDATE +en Short telomere length HP:0031413 rdfs:label nl Korte telomeer lengte CANDIDATE +en Short term memory impairment HP:0033687 rdfs:label nl Short term memory impairment NOT_TRANSLATED +en Short third metacarpal bone HP:0010041 IAO:0000115 nl Short third metacarpal bone NOT_TRANSLATED +en Short third metatarsal HP:0004686 rdfs:label nl Korte derde metatarsaal CANDIDATE +en Short thorax HP:0010306 rdfs:label nl Korte thorax CANDIDATE +en Short thumb HP:0009778 rdfs:label nl Korte duim CANDIDATE +en Short tibia HP:0005736 rdfs:label nl Korte tibia CANDIDATE +en Short toe HP:0001831 rdfs:label nl Korte teen CANDIDATE +en Short tubular bones of the hand HP:0001248 rdfs:label nl Korte tubulaire botten van de hand CANDIDATE +en Short umbilical cord HP:0001196 rdfs:label nl Korte navelstreng CANDIDATE +en Short upper eyelashes HP:0040054 rdfs:label nl Korte bovenste wimpers CANDIDATE +en Short upper lip HP:0000188 rdfs:label nl Korte bovenlip CANDIDATE +en Short uvula HP:0010812 rdfs:label nl Korte uvula CANDIDATE +en Short, hypoplastic middle phalanx of finger, affecting all fingers HP:0006110 IAO:0000115 nl Short, hypoplastic middle phalanx of finger, affecting all fingers NOT_TRANSLATED +en Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration HP:0025153 IAO:0000115 nl Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration NOT_TRANSLATED +en Short-segment aganglionic megacolon HP:0011284 rdfs:label nl Kort-segment agangliotisch megacolon CANDIDATE +en Shortened O-fucosylated glycan on properdin HP:0410344 rdfs:label nl Shortened O-fucosylated glycan on properdin NOT_TRANSLATED +en Shortened PR interval HP:0005165 rdfs:label nl Verkort PR interval CANDIDATE +en Shortened QT interval HP:0012232 rdfs:label nl Verkort QT interval CANDIDATE +en Shortened inner dynein arms HP:0200107 rdfs:label nl Verkorte binnenste dyneïne-armen CANDIDATE +en Shortened outer dynein arms HP:0200108 rdfs:label nl Verkorte buitenste dyneïne-armen CANDIDATE +en Shortened sleep cycle HP:0033063 rdfs:label nl Shortened sleep cycle NOT_TRANSLATED +en Shortening of a leg affecting only one side HP:0200053 IAO:0000115 nl Shortening of a leg affecting only one side NOT_TRANSLATED +en Shortening of all distal phalanges of the fingers HP:0006118 rdfs:label nl Verkorting van alle distale falangen van de vingers CANDIDATE +en Shortening of all distal phalanges of the toes HP:0005793 rdfs:label nl Verkorting van alle distale falangen van de tenen CANDIDATE +en Shortening of all metacarpals HP:0005720 rdfs:label nl Verkorting van alle metacarpalen CANDIDATE +en Shortening of all middle phalanges of the fingers HP:0006110 rdfs:label nl Verkorting van alle middelste falangen van de vingers CANDIDATE +en Shortening of all middle phalanges of the toes HP:0006239 rdfs:label nl Verkorting van alle middelste falangen van de tenen CANDIDATE +en Shortening of all phalanges of fingers HP:0011910 rdfs:label nl Verkorting van alle falangen van de vingers CANDIDATE +en Shortening of all phalanges of the toes HP:0005035 rdfs:label nl Verkorting van alle falangen van de tenen CANDIDATE +en Shortening of all proximal phalanges of the fingers HP:0006144 rdfs:label nl Verkorting van alle proximale falangen van de vingers CANDIDATE +en Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments HP:0010482 IAO:0000115 nl Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments NOT_TRANSLATED +en Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs HP:0010884 IAO:0000115 nl Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs NOT_TRANSLATED +en Shortening of the fourth and fifth metacarpals when the fist is clenched HP:0031809 IAO:0000115 nl Shortening of the fourth and fifth metacarpals when the fist is clenched NOT_TRANSLATED +en Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments HP:0010494 IAO:0000115 nl Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments NOT_TRANSLATED +en Shortening of the legs related to developmental hypoplasia of the bones of the leg HP:0006385 IAO:0000115 nl Shortening of the legs related to developmental hypoplasia of the bones of the leg NOT_TRANSLATED +en Shortening of the middle parts of the arm in relation to the upper and terminal segments HP:0005011 IAO:0000115 nl Shortening of the middle parts of the arm in relation to the upper and terminal segments NOT_TRANSLATED +en Shortening of the middle parts of the leg in relation to the upper and terminal segments HP:0004987 IAO:0000115 nl Shortening of the middle parts of the leg in relation to the upper and terminal segments NOT_TRANSLATED +en Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments HP:0003027 IAO:0000115 nl Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments NOT_TRANSLATED +en Shortening of the talar neck HP:0008117 rdfs:label nl Verkorting van de nek van de talus CANDIDATE +en Shoulder contracture HP:0034665 rdfs:label nl Schouder contractuur OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Shoulder dimple HP:0010782 rdfs:label nl Schouder dimples CANDIDATE +en Shoulder dislocation HP:0003834 rdfs:label nl Schouder dislocatie CANDIDATE +en Shoulder dislocation occurring repeated times HP:0031610 IAO:0000115 nl Shoulder dislocation occurring repeated times NOT_TRANSLATED +en Shoulder dystocia HP:0011413 rdfs:label nl Schouderdystocie CANDIDATE +en Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex HP:0011413 IAO:0000115 nl Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex NOT_TRANSLATED +en Shoulder flexion contracture HP:0003044 rdfs:label nl Schouder flexiecontractuur CANDIDATE +en Shoulder girdle muscle atrophy HP:0003724 rdfs:label nl Atrofie van de spieren van de schoudergordel CANDIDATE +en Shoulder girdle muscle weakness HP:0003547 rdfs:label nl Schoudergordel spierzwakte CANDIDATE +en Shoulder impingement HP:0030881 rdfs:label nl Schouder impingement CANDIDATE +en Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity HP:0009742 IAO:0000115 nl Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity NOT_TRANSLATED +en Shoulder muscle aplasia HP:0500023 rdfs:label nl Schouder spieren aplasie CANDIDATE +en Shoulder muscle hypoplasia HP:0008952 rdfs:label nl Schouder spieren hypoplasie CANDIDATE +en Shoulder pain HP:0030834 rdfs:label nl Schouderpijn CANDIDATE +en Shoulder subluxation HP:0003835 rdfs:label nl Schouder subluxatie CANDIDATE +en Shovel-shaped maxillary central incisors HP:0006358 rdfs:label nl Schop-vormige maxillaire centrale snijtanden CANDIDATE +en Shuffling gait HP:0002362 rdfs:label nl Schuifelende gang CANDIDATE +en Shyness HP:0100962 rdfs:label nl Verlegenheid CANDIDATE +en Sialadenitis HP:0031281 rdfs:label nl Sialadenitis CANDIDATE +en Sick sinus syndrome HP:0011704 rdfs:label nl Sick sinus syndroom CANDIDATE +en Sickled erythrocytes HP:0030058 rdfs:label nl Sickled erythrocytes NOT_TRANSLATED +en Sideroblastic anemia HP:0001924 rdfs:label nl Sideroblastaire anemie CANDIDATE +en Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining) HP:0001924 IAO:0000115 nl Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining) NOT_TRANSLATED +en Sigmoid kidney HP:0034231 rdfs:label nl Sigmoid kidney NOT_TRANSLATED +en Signet ring sign HP:0032175 rdfs:label nl Signet ring sign NOT_TRANSLATED +en Significant bleeding or hemorrhage without significant precipitating factor HP:0011889 IAO:0000115 nl Significant bleeding or hemorrhage without significant precipitating factor NOT_TRANSLATED +en Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit HP:0004099 IAO:0000115 nl Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit NOT_TRANSLATED +en Significant luminal narrowing of a long segment of or the entire ascending aorta HP:0031935 IAO:0000115 nl Significant luminal narrowing of a long segment of or the entire ascending aorta NOT_TRANSLATED +en Significant luminal narrowing of a long segment of the descending aorta HP:0025495 IAO:0000115 nl Significant luminal narrowing of a long segment of the descending aorta NOT_TRANSLATED +en Significant maternal haemorrhage/blood loss following deilvery of a child HP:0011891 IAO:0000115 nl Significant maternal haemorrhage/blood loss following deilvery of a child NOT_TRANSLATED +en Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby HP:0025328 IAO:0000115 nl Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby NOT_TRANSLATED +en Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual HP:0030033 IAO:0000115 nl Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual NOT_TRANSLATED +en Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual HP:0030031 IAO:0000115 nl Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual NOT_TRANSLATED +en Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid HP:0032981 IAO:0000115 nl Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid NOT_TRANSLATED +en Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region HP:0032980 IAO:0000115 nl Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region NOT_TRANSLATED +en Silent hypoxemia HP:0034038 rdfs:label nl Silent hypoxemia NOT_TRANSLATED +en Silhouette sign HP:0033647 rdfs:label nl Silhouette sign NOT_TRANSLATED +en Silver-gray hair HP:0002218 rdfs:label nl Zilver-grijs haar CANDIDATE +en Simple ear HP:0020206 rdfs:label nl Simple ear NOT_TRANSLATED +en Simple febrile seizure HP:0011171 rdfs:label nl Simpele koortstuipen CANDIDATE +en Simple renal cyst HP:0012581 rdfs:label nl Solitaire renale cyste CANDIDATE +en Simplified gyral pattern HP:0009879 rdfs:label nl Corticale gyrale simplificatie CANDIDATE +en Simulataneous inflammation of multiple nerves HP:0031003 IAO:0000115 nl Simulataneous inflammation of multiple nerves NOT_TRANSLATED +en Simulated distance exotropia HP:0031720 rdfs:label nl Simulated distance exotropia NOT_TRANSLATED +en Simultanapraxia HP:0040201 rdfs:label nl Simultanapraxia NOT_TRANSLATED +en Simultaneous enlargement of the liver and spleen HP:0001433 IAO:0000115 nl Simultaneous enlargement of the liver and spleen NOT_TRANSLATED +en Single (solitary) abscess in the spleen HP:0025061 IAO:0000115 nl Single (solitary) abscess in the spleen NOT_TRANSLATED +en Single atrioventricular valve regurgitation HP:0034377 rdfs:label nl Single atrioventricular valve regurgitation NOT_TRANSLATED +en Single coronary artery origin HP:0011640 rdfs:label nl Enkele oorsprong van coronairarterie CANDIDATE +en Single fiber EMG abnormality HP:0030006 rdfs:label nl Enkele vezel EMG afwijking CANDIDATE +en Single interphalangeal crease of fifth finger HP:0006216 rdfs:label nl Enkele interfalangeale plooi van 5e vinger CANDIDATE +en Single lineage myelodysplasia HP:0012150 rdfs:label nl Myelodysplasie van één cellijn CANDIDATE +en Single naris HP:0009932 rdfs:label nl Enkel neusgat CANDIDATE +en Single raphe bicuspid aortic valve HP:0031118 rdfs:label nl Single raphe bicuspid aortic valve NOT_TRANSLATED +en Single transverse palmar crease HP:0000954 rdfs:label nl Eén dwarse palmaire plooi CANDIDATE +en Single trichilemmoma HP:0012845 rdfs:label nl Enkel trichilemmoom CANDIDATE +en Single umbilical artery HP:0001195 rdfs:label nl Enkele navelstrengslagader CANDIDATE +en Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord HP:0001195 IAO:0000115 nl Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord NOT_TRANSLATED +en Single ventricle HP:0001750 rdfs:label nl Één ventrikel CANDIDATE +en Single ventricle of indeterminate morphology HP:0011680 rdfs:label nl Één ventrikel van onbepaalde morfologie CANDIDATE +en Single-lobed right lung HP:0033998 rdfs:label nl Single-lobed right lung NOT_TRANSLATED +en Sinoatrial block HP:0012723 rdfs:label nl Sino-auriculair blok CANDIDATE +en Sinus bradycardia HP:0001688 rdfs:label nl Sinus bradycardie CANDIDATE +en Sinus tachycardia HP:0011703 rdfs:label nl Sinus tachycardie CANDIDATE +en Sinus venosus atrial septal defect HP:0011567 rdfs:label nl Sinus venosus atriumseptumdefect CANDIDATE +en Sinusitis HP:0000246 rdfs:label nl Sinusitis CANDIDATE +en Sirenomelia HP:0010497 rdfs:label nl Sirenomelie CANDIDATE +en Situated or occurring around a lobe of an organ HP:0033813 IAO:0000115 nl Situated or occurring around a lobe of an organ NOT_TRANSLATED +en Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia HP:0031592 IAO:0000115 nl Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia NOT_TRANSLATED +en Situs inversus totalis HP:0001696 rdfs:label nl Situs inversus totalis CANDIDATE +en Situs inversus with levocardia HP:0031592 rdfs:label nl Situs inversus met levocardie CANDIDATE +en Six lumbar vertebrae HP:0008416 rdfs:label nl Zes lumbale wervels CANDIDATE +en Skeletal dysplasia HP:0002652 rdfs:label nl Skelet dysplasie CANDIDATE +en Skeletal muscle atrophy HP:0003202 rdfs:label nl Atrofie van de skeletspieren CANDIDATE +en Skeletal muscle autophagosome accumulation HP:0025717 rdfs:label nl Skeletal muscle autophagosome accumulation NOT_TRANSLATED +en Skeletal muscle fibrosis HP:0030951 rdfs:label nl Skeletspier fibrose CANDIDATE +en Skeletal muscle hyperechogenicity HP:0025718 rdfs:label nl Skeletal muscle hyperechogenicity NOT_TRANSLATED +en Skeletal muscle hypertrophy HP:0003712 rdfs:label nl Hypertrofie van de skeletspieren CANDIDATE +en Skeletal muscle steatosis HP:0040291 rdfs:label nl Skeletspier steatose CANDIDATE +en Skeletal myopathy HP:0003756 rdfs:label nl Skeletale myopathie CANDIDATE +en Skewed maternal X inactivation HP:0012546 rdfs:label nl Geskewde maternale X inactivatie CANDIDATE +en Skewfoot HP:0032649 rdfs:label nl Skewfoot NOT_TRANSLATED +en Ski jump nail HP:0030819 rdfs:label nl Ski jump nail NOT_TRANSLATED +en Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin HP:0033126 IAO:0000115 nl Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin NOT_TRANSLATED +en Skin appendage neoplasm HP:0012842 rdfs:label nl Skin appendage neoplasm NOT_TRANSLATED +en Skin characterized by the lack of natural or normal moisture HP:0000958 IAO:0000115 nl Skin characterized by the lack of natural or normal moisture NOT_TRANSLATED +en Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma HP:0100876 IAO:0000115 nl Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma NOT_TRANSLATED +en Skin detachment HP:0032156 rdfs:label nl Skin detachment NOT_TRANSLATED +en Skin dimple HP:0010781 rdfs:label nl Dimples van de huid CANDIDATE +en Skin dimple over apex of long bone angulation HP:0001024 rdfs:label nl Skin dimple over apex of long bone angulation NOT_TRANSLATED +en Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation HP:0010781 IAO:0000115 nl Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation NOT_TRANSLATED +en Skin erosion HP:0200041 rdfs:label nl Huid erosie CANDIDATE +en Skin fissure HP:0031057 rdfs:label nl Huid fissuur CANDIDATE +en Skin fragility with non-scarring blistering HP:0007585 rdfs:label nl Fragiliteit van huid met blaarvorming zonder littekens CANDIDATE +en Skin nodule HP:0200036 rdfs:label nl Huid nodulus CANDIDATE +en Skin pit HP:0100276 rdfs:label nl Huid pit CANDIDATE +en Skin plaque HP:0200035 rdfs:label nl Huid plaque CANDIDATE +en Skin rash HP:0000988 rdfs:label nl Huiduitslag CANDIDATE +en Skin tags HP:0010609 rdfs:label nl Skin tags CANDIDATE +en Skin that splits easily with minimal injury HP:0001030 IAO:0000115 nl Skin that splits easily with minimal injury NOT_TRANSLATED +en Skin ulcer HP:0200042 rdfs:label nl Cutane ulceratie CANDIDATE +en Skin vesicle HP:0200037 rdfs:label nl Huid vesikel CANDIDATE +en Skin-colored papule HP:0025512 rdfs:label nl Huid-kleurige papel CANDIDATE +en Skin-picking HP:0012166 rdfs:label nl Skin-picking CANDIDATE +en Skull asymmetry HP:0002678 rdfs:label nl Schedel asymmetrie CANDIDATE +en Slanting of the palpebral fissure HP:0200006 rdfs:label nl Schuine stand van de ooglidspleet CANDIDATE +en Sleep apnea HP:0010535 rdfs:label nl Slaap-apneu CANDIDATE +en Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles HP:0010536 IAO:0000115 nl Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles NOT_TRANSLATED +en Sleep disturbance HP:0002360 rdfs:label nl Slaapstoornis CANDIDATE +en Sleep myoclonus HP:0012323 rdfs:label nl Slaapmyoclonus CANDIDATE +en Sleep onset insomnia HP:0031354 rdfs:label nl Sleep onset insomnia NOT_TRANSLATED +en Sleep paralysis HP:0025233 rdfs:label nl Slaapparalyse CANDIDATE +en Sleep terror HP:0030765 rdfs:label nl Pavor noturnus CANDIDATE +en Sleep-interrupting HP:0025284 rdfs:label nl Slaap-onderbrekend CANDIDATE +en Sleep-wake cycle disturbance HP:0006979 rdfs:label nl Slaap-waak cyclus verstoring CANDIDATE +en Sleep-wake inversion HP:0031849 rdfs:label nl Sleep-wake inversion NOT_TRANSLATED +en Sleepy facial expression HP:0005335 rdfs:label nl Slaperige faciale expressie CANDIDATE +en Slender build HP:0001533 rdfs:label nl Slanke bouw CANDIDATE +en Slender distal phalanx of finger HP:0012296 rdfs:label nl Slanke distale falanx van vinger CANDIDATE +en Slender finger HP:0001238 rdfs:label nl Slanke vinger CANDIDATE +en Slender forearm bones HP:0003969 rdfs:label nl Slanke botten van onderarm CANDIDATE +en Slender humeral diaphysis HP:0003934 rdfs:label nl Slanke diafyse van humerus CANDIDATE +en Slender humerus HP:0003882 rdfs:label nl Slanke humerus CANDIDATE +en Slender long bone HP:0003100 rdfs:label nl Slank lang bot CANDIDATE +en Slender long bones with narrow diaphyses HP:0004993 rdfs:label nl Slanke lange botten met smalle diafysen CANDIDATE +en Slender metacarpals HP:0006236 rdfs:label nl Slanke metacarpalen CANDIDATE +en Slender middle phalanx of finger HP:0012295 rdfs:label nl Slank middelste falanx van vinger CANDIDATE +en Slender nose HP:0000417 rdfs:label nl Slanke neus CANDIDATE +en Slender proximal phalanx of finger HP:0012297 rdfs:label nl Slanke proximale falanx van vinger CANDIDATE +en Slender radius HP:0040062 rdfs:label nl Slanke radius CANDIDATE +en Slender toe HP:0011308 rdfs:label nl Slanke teen CANDIDATE +en Slender ulna HP:0003992 rdfs:label nl Slanke ulna CANDIDATE +en Slender, slit-like aperture of the nostril HP:0009933 IAO:0000115 nl Slender, slit-like aperture of the nostril NOT_TRANSLATED +en Slightly elevated lesions on or in the skin with a diameter of over 5 mm HP:0001482 IAO:0000115 nl Slightly elevated lesions on or in the skin with a diameter of over 5 mm NOT_TRANSLATED +en Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals HP:0550004 IAO:0000115 nl Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals NOT_TRANSLATED +en Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt HP:0006461 IAO:0000115 nl Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt NOT_TRANSLATED +en Slit-like opening of the exterior auditory meatus HP:0008588 rdfs:label nl Gleuf-achtige opening van de externe gehoorgang CANDIDATE +en Sloping forehead HP:0000340 rdfs:label nl Schuin voorhoofd CANDIDATE +en Sloping humeral metaphysis HP:0003920 rdfs:label nl Aflopende metafyse van de humerus CANDIDATE +en Sloping radial epiphyses HP:0004008 rdfs:label nl Sloping radial epiphyses NOT_TRANSLATED +en Sloping radial metaphysis HP:0004023 rdfs:label nl Sloping radial metaphysis NOT_TRANSLATED +en Sloping ulnar metaphysis HP:0004045 rdfs:label nl Sloping ulnar metaphysis NOT_TRANSLATED +en Slow decrease in visual acuity HP:0007924 rdfs:label nl Langzame vermindering van visus CANDIDATE +en Slow or limited growth after birth HP:0008897 IAO:0000115 nl Slow or limited growth after birth NOT_TRANSLATED +en Slow pupillary light response HP:0030211 rdfs:label nl Trage pupilreactie op licht CANDIDATE +en Slow saccadic eye movements HP:0000514 rdfs:label nl Langzame saccadische oogbewegingen CANDIDATE +en Slow, creeping onset, slow progress and long continuance of disease manifestations HP:0011010 IAO:0000115 nl Slow, creeping onset, slow progress and long continuance of disease manifestations NOT_TRANSLATED +en Slow-growing hair HP:0002217 rdfs:label nl Langzaam groeiend haar CANDIDATE +en Slow-growing nails HP:0008383 rdfs:label nl Langzaam groeiende nagels CANDIDATE +en Slow-growing scalp hair HP:0100038 rdfs:label nl Langzaam groeiend hoofdhaar CANDIDATE +en Slowed horizontal saccades HP:0007885 rdfs:label nl Vertraagde horizontale saccades CANDIDATE +en Slowed relaxation of muscles in the arm HP:0012903 IAO:0000115 nl Slowed relaxation of muscles in the arm NOT_TRANSLATED +en Slowed relaxation of muscles in the face HP:0012900 IAO:0000115 nl Slowed relaxation of muscles in the face NOT_TRANSLATED +en Slowed relaxation of muscles in the jaw HP:0012901 IAO:0000115 nl Slowed relaxation of muscles in the jaw NOT_TRANSLATED +en Slowed relaxation of muscles in the leg HP:0012902 IAO:0000115 nl Slowed relaxation of muscles in the leg NOT_TRANSLATED +en Slowed slurred speech HP:0007164 rdfs:label nl Vertraagde onduidelijke spraak CANDIDATE +en Slowing at frequencies between 7.5 and 8.5 Hz HP:0011206 IAO:0000115 nl Slowing at frequencies between 7.5 and 8.5 Hz NOT_TRANSLATED +en Slowing in occipital areas of the scalp EEG HP:0011210 IAO:0000115 nl Slowing in occipital areas of the scalp EEG NOT_TRANSLATED +en Slowly progressive HP:0003677 rdfs:label nl Trage progressie CANDIDATE +en Slurred speech HP:0001350 rdfs:label nl Onduidelijke spraak CANDIDATE +en Small (typically about 1 mm or less in size) depressions on the dorsal nail surface HP:0001803 IAO:0000115 nl Small (typically about 1 mm or less in size) depressions on the dorsal nail surface NOT_TRANSLATED +en Small abnormally formed scapulae HP:0006584 rdfs:label nl Kleine abnormaal gevormde scapulae CANDIDATE +en Small anterior fontanelle HP:0000237 rdfs:label nl Kleine voorste fontanel CANDIDATE +en Small areas of bleeding (hemorrhage) under the fingernail or toenail HP:0030254 IAO:0000115 nl Small areas of bleeding (hemorrhage) under the fingernail or toenail NOT_TRANSLATED +en Small basal ganglia HP:0012697 rdfs:label nl Kleine basale ganglia CANDIDATE +en Small bowel diverticula HP:0002256 rdfs:label nl Divertikel van dunne darm CANDIDATE +en Small cartilaginous prominence on the posterior concha HP:0030023 IAO:0000115 nl Small cartilaginous prominence on the posterior concha NOT_TRANSLATED +en Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly HP:0030357 IAO:0000115 nl Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly NOT_TRANSLATED +en Small cell lung carcinoma HP:0030357 rdfs:label nl Kleincellig longcarcinoom CANDIDATE +en Small cerebellar cortex HP:0031423 rdfs:label nl Kleine cerebellaire cortex CANDIDATE +en Small cerebral cortex HP:0002472 rdfs:label nl Kleine cerebrale cortex CANDIDATE +en Small cervical vertebral bodies HP:0004629 rdfs:label nl Kleine cervicale wervellichamen CANDIDATE +en Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix HP:0011260 IAO:0000115 nl Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix NOT_TRANSLATED +en Small distal femoral epiphysis HP:0012283 rdfs:label nl Kleine distale epifyse van femur CANDIDATE +en Small earlobe HP:0000385 rdfs:label nl Kleine oorlel CANDIDATE +en Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus HP:0031834 IAO:0000115 nl Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus NOT_TRANSLATED +en Small epiphyses HP:0010585 rdfs:label nl Kleine epifysen CANDIDATE +en Small epiphyses of the 2nd finger HP:0009496 rdfs:label nl Kleine epifysen van de 2e vinger CANDIDATE +en Small epiphyses of the 2nd toe HP:0100052 rdfs:label nl Kleine epifysen van de 2e teen CANDIDATE +en Small epiphyses of the 3rd finger HP:0009418 rdfs:label nl Kleine epifysen van de 3e vinger CANDIDATE +en Small epiphyses of the 3rd toe HP:0100063 rdfs:label nl Kleine epifysen van de 3e teen CANDIDATE +en Small epiphyses of the 4th finger HP:0009401 rdfs:label nl Kleine epifysen van de 4e vinger CANDIDATE +en Small epiphyses of the 4th toe HP:0100074 rdfs:label nl Kleine epifysen van de 4e teen CANDIDATE +en Small epiphyses of the 5th finger HP:0009390 rdfs:label nl Kleine epifysen van de 5e vinger CANDIDATE +en Small epiphyses of the 5th toe HP:0100085 rdfs:label nl Kleine epifysen van de 5e teen CANDIDATE +en Small epiphyses of the distal phalanges of the hand HP:0010254 rdfs:label nl Kleine epifysen van distale falangen van hand CANDIDATE +en Small epiphyses of the hallux HP:0010121 rdfs:label nl Kleine epifysen van de hallux CANDIDATE +en Small epiphyses of the metacarpals HP:0009194 rdfs:label nl Kleine epifysen van de metacarpalen CANDIDATE +en Small epiphyses of the middle phalanges of the hand HP:0010265 rdfs:label nl Kleine epifysen van middelste falangen van hand CANDIDATE +en Small epiphyses of the phalanges of the hand HP:0010236 rdfs:label nl Kleine epifysen van falangen van hand CANDIDATE +en Small epiphyses of the proximal phalanges of the hand HP:0010276 rdfs:label nl Kleine epifysen van proximale falangen van hand CANDIDATE +en Small epiphyses of the toes HP:0010170 rdfs:label nl Kleine epifyses van de tenen CANDIDATE +en Small epiphyses of the upper limbs HP:0003844 rdfs:label nl Small epifysen van bovenste ledematen CANDIDATE +en Small epiphysis of the 1st metacarpal HP:0010023 rdfs:label nl Kleine epifyse van de 1e metacarpaal CANDIDATE +en Small epiphysis of the 1st metatarsal HP:0010157 rdfs:label nl Kleine epifyse van de 1e metatarsaal CANDIDATE +en Small epiphysis of the distal phalanx of the 2nd finger HP:0009510 rdfs:label nl Kleine epifyse van de distale falanx van de 2e vinger CANDIDATE +en Small epiphysis of the distal phalanx of the 2nd toe HP:0100108 rdfs:label nl Kleine epifyse van de distale falanx van de 2e teen CANDIDATE +en Small epiphysis of the distal phalanx of the 3rd finger HP:0009343 rdfs:label nl Kleine epifyse van de distale falanx van de 3e vinger CANDIDATE +en Small epiphysis of the distal phalanx of the 3rd toe HP:0100143 rdfs:label nl Kleine epifyse van de distale falanx van de 3e teen CANDIDATE +en Small epiphysis of the distal phalanx of the 4th finger HP:0009258 rdfs:label nl Kleine epifyse van de distale falanx van de 4e vinger CANDIDATE +en Small epiphysis of the distal phalanx of the 4th toe HP:0100177 rdfs:label nl Kleine epifyse van de distale falanx van de 4e teen CANDIDATE +en Small epiphysis of the distal phalanx of the 5th finger HP:0009148 rdfs:label nl Kleine epifyse van de distale falanx van de 5e vinger CANDIDATE +en Small epiphysis of the distal phalanx of the 5th toe HP:0100210 rdfs:label nl Kleine epifyse van de distale falanx van de 5e teen CANDIDATE +en Small epiphysis of the distal phalanx of the hallux HP:0010146 rdfs:label nl Kleine epifyse van de distale falanx van de hallux CANDIDATE +en Small epiphysis of the distal phalanx of the thumb HP:0009683 rdfs:label nl Kleine epifyse van de distale falanx van de duim CANDIDATE +en Small epiphysis of the middle phalanx of the 2nd finger HP:0009521 rdfs:label nl Kleine epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Small epiphysis of the middle phalanx of the 2nd toe HP:0100119 rdfs:label nl Kleine epifyse van de middelste falanx van de 2e teen CANDIDATE +en Small epiphysis of the middle phalanx of the 3rd finger HP:0009329 rdfs:label nl Kleine epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Small epiphysis of the middle phalanx of the 3rd toe HP:0100154 rdfs:label nl Kleine epifyse van de middelste falanx van de 3e teen CANDIDATE +en Small epiphysis of the middle phalanx of the 4th finger HP:0009222 rdfs:label nl Kleine epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Small epiphysis of the middle phalanx of the 4th toe HP:0100188 rdfs:label nl Kleine epifyse van de middelste falanx van de 4e teen CANDIDATE +en Small epiphysis of the middle phalanx of the 5th finger HP:0009211 rdfs:label nl Kleine epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Small epiphysis of the middle phalanx of the 5th toe HP:0100221 rdfs:label nl Kleine epifyse van de middelste falanx van de 5e teen CANDIDATE +en Small epiphysis of the proximal phalanx of the 2nd finger HP:0009532 rdfs:label nl Kleine epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Small epiphysis of the proximal phalanx of the 2nd toe HP:0100130 rdfs:label nl Kleine epifyse van de proximale falanx van de 2e teen CANDIDATE +en Small epiphysis of the proximal phalanx of the 3rd finger HP:0009354 rdfs:label nl Kleine epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Small epiphysis of the proximal phalanx of the 3rd toe HP:0100165 rdfs:label nl Kleine epifyse van de proximale falanx van de 3e teen CANDIDATE +en Small epiphysis of the proximal phalanx of the 4th finger HP:0009269 rdfs:label nl Kleine epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Small epiphysis of the proximal phalanx of the 4th toe HP:0100199 rdfs:label nl Kleine epifyse van de proximale falanx van de 4e teen CANDIDATE +en Small epiphysis of the proximal phalanx of the 5th finger HP:0009159 rdfs:label nl Kleine epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Small epiphysis of the proximal phalanx of the 5th toe HP:0100232 rdfs:label nl Kleine epifyse van de proximale falanx van de 5e teen CANDIDATE +en Small epiphysis of the proximal phalanx of the hallux HP:0010135 rdfs:label nl Kleine epifyse van de proximale falanx van de hallux CANDIDATE +en Small epiphysis of the proximal phalanx of the thumb HP:0009672 rdfs:label nl Kleine epifyse van de proximale falanx van de duim CANDIDATE +en Small expansion of the helical fold at the junction of the superior and descending portions of the helix HP:0011261 IAO:0000115 nl Small expansion of the helical fold at the junction of the superior and descending portions of the helix NOT_TRANSLATED +en Small face HP:0000274 rdfs:label nl Smal gelaat CANDIDATE +en Small finger HP:0030033 rdfs:label nl Kleine vinger CANDIDATE +en Small flat posterior fossa HP:0005759 rdfs:label nl Kleine vlakke posterieure fossa CANDIDATE +en Small fontanelle HP:0005486 rdfs:label nl Kleine fontanel CANDIDATE +en Small for gestational age HP:0001518 rdfs:label nl Klein voor zwangerschapsduur CANDIDATE +en Small foramen magnum HP:0002677 rdfs:label nl Klein foramen magnum CANDIDATE +en Small forehead HP:0000350 rdfs:label nl Klein voorhoofd CANDIDATE +en Small hand HP:0200055 rdfs:label nl Kleine hand CANDIDATE +en Small hands and feet HP:0003086 IAO:0000115 nl Small hands and feet NOT_TRANSLATED +en Small hands and feet in proportion to the rest of the body HP:0031878 IAO:0000115 nl Small hands and feet in proportion to the rest of the body NOT_TRANSLATED +en Small humeral epiphyses HP:0003900 rdfs:label nl Kleine epifysen van de humerus CANDIDATE +en Small hypothenar eminence HP:0010487 rdfs:label nl Kleine pinkmuis CANDIDATE +en Small indentation anterior to the insertion of the ear HP:0004467 IAO:0000115 nl Small indentation anterior to the insertion of the ear NOT_TRANSLATED +en Small indentation in the lower part of the ascending helix, concha, or in the crus helix HP:0030025 IAO:0000115 nl Small indentation in the lower part of the ascending helix, concha, or in the crus helix NOT_TRANSLATED +en Small intestinal bacterial overgrowth HP:0033163 rdfs:label nl Small intestinal bacterial overgrowth NOT_TRANSLATED +en Small intestinal bleeding HP:0012849 rdfs:label nl Dunne darm bloeding CANDIDATE +en Small intestinal dysmotility HP:0012850 rdfs:label nl Dunne darm dysmotiliteit CANDIDATE +en Small intestinal perforation HP:0031370 rdfs:label nl Perforatie van dunne darm CANDIDATE +en Small intestinal polyp HP:0012737 rdfs:label nl Dunne dorm poliep CANDIDATE +en Small intestinal polyposis HP:0030256 rdfs:label nl Polyposis van dunne darm CANDIDATE +en Small intestinal stenosis HP:0012848 rdfs:label nl Dunne darm stenose CANDIDATE +en Small intestine carcinoid HP:0006722 rdfs:label nl Dunne darm carcinoïd CANDIDATE +en Small joint hypermobilty HP:0430046 rdfs:label nl Hypermobiliteit van kleine gewrichten OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Small nail HP:0001792 rdfs:label nl Kleine nagel CANDIDATE +en Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis HP:0009716 IAO:0000115 nl Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis NOT_TRANSLATED +en Small nodules of enamel on the root of a tooth HP:0033776 IAO:0000115 nl Small nodules of enamel on the root of a tooth NOT_TRANSLATED +en Small or missing phalangeal bones of the fingers of the hand HP:0009767 IAO:0000115 nl Small or missing phalangeal bones of the fingers of the hand NOT_TRANSLATED +en Small pituitary gland HP:0012506 rdfs:label nl Kleine hypofyse CANDIDATE +en Small placenta HP:0006266 rdfs:label nl Kleine placenta CANDIDATE +en Small posterior fossa HP:0040010 rdfs:label nl Kleine posterieure fossa CANDIDATE +en Small protrusion within the pinna HP:0030021 IAO:0000115 nl Small protrusion within the pinna NOT_TRANSLATED +en Small proximal tibial epiphyses HP:0012284 rdfs:label nl Kleine proximale tibia epifysen CANDIDATE +en Small radial epiphyses HP:0004010 rdfs:label nl Kleine epifysen van de radius CANDIDATE +en Small scaphoid HP:0004247 rdfs:label nl Klein scaphoid CANDIDATE +en Small scrotum HP:0000046 rdfs:label nl Scrotale hypoplasie CANDIDATE +en Small sella turcica HP:0010538 rdfs:label nl Kleine sella turcica CANDIDATE +en Small superior frontal cortex HP:0031421 rdfs:label nl Kleine superieure frontale cortex CANDIDATE +en Small thenar eminence HP:0001245 rdfs:label nl Kleine duimmuis CANDIDATE +en Small thumb epiphysis HP:0009694 rdfs:label nl Kleine epifyse van de duim CANDIDATE +en Small toe HP:0030031 rdfs:label nl Kleine teen CANDIDATE +en Small trapezium HP:0004255 rdfs:label nl Klein trapezium CANDIDATE +en Small trapezoid bone HP:0004258 rdfs:label nl Klein os trapezium CANDIDATE +en Small vessel vasculitis HP:0011944 rdfs:label nl Kleine vaten vasculitis CANDIDATE +en Small yellow foveal lesion with surrounding gray zone HP:0031420 rdfs:label nl Kleine gele foveale laesie met omringende grijze zone CANDIDATE +en Small, conical teeth HP:0200141 rdfs:label nl Kleine, kegelvormige tanden CANDIDATE +en Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells HP:0030947 IAO:0000115 nl Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells NOT_TRANSLATED +en Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray HP:0025014 IAO:0000115 nl Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray NOT_TRANSLATED +en Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms) HP:0030494 IAO:0000115 nl Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms) NOT_TRANSLATED +en Small, underdeveloped vertebral bodies HP:0008417 IAO:0000115 nl Small, underdeveloped vertebral bodies NOT_TRANSLATED +en Small/hypoplastic or absent/aplastic fingers HP:0006265 IAO:0000115 nl Small/hypoplastic or absent/aplastic fingers NOT_TRANSLATED +en Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age HP:0001518 IAO:0000115 nl Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age NOT_TRANSLATED +en Smoker-inclusions in alveolar macrophages HP:0032986 rdfs:label nl Smoker-inclusions in alveolar macrophages NOT_TRANSLATED +en Smooth muscle antibody positivity HP:0003262 rdfs:label nl Gladde spier antilichaam positiviteit CANDIDATE +en Smooth philtrum HP:0000319 rdfs:label nl Vlak filtrum CANDIDATE +en Smooth septal thickening on pulmonary HRCT HP:0025172 rdfs:label nl Gladde septum verdikking op pulmonale HRCT CANDIDATE +en Smooth tongue HP:0010298 rdfs:label nl Gladde tong CANDIDATE +en Snail-like ilia HP:0031026 rdfs:label nl Snail-like ilia NOT_TRANSLATED +en Sneeze HP:0025095 rdfs:label nl Nies CANDIDATE +en Snoring HP:0025267 rdfs:label nl Snurken CANDIDATE +en Snout reflex HP:0030905 rdfs:label nl Snuitreflex CANDIDATE +en Snowball lesion of corpus callosum HP:0031948 rdfs:label nl Snowball lesion of corpus callosum NOT_TRANSLATED +en Snowflake vitreoretinal degeneration HP:0011533 rdfs:label nl Snowflake vitreoretinal degeneration NOT_TRANSLATED +en So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space HP:0031631 IAO:0000115 nl So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space NOT_TRANSLATED +en Social Anxiety HP:6000029 rdfs:label nl Sociale angst OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Social and occupational deterioration HP:0007086 rdfs:label nl Sociale en professionele achteruitgang CANDIDATE +en Social disinhibition HP:5200029 rdfs:label nl Sociale ontremming OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Socially inappropriate behavior HP:0030220 rdfs:label nl Sociaal ongepast gedrag CANDIDATE +en Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth HP:0410031 IAO:0000115 nl Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth NOT_TRANSLATED +en Soft skin HP:0000977 rdfs:label nl Zachte huid CANDIDATE +en Soft tissue neoplasm HP:0031459 rdfs:label nl Weke delen neoplasma CANDIDATE +en Soft tissue sarcoma HP:0030448 rdfs:label nl Sarcoom van weke delen CANDIDATE +en Soft tissue swelling of interphalangeal joints HP:0006162 rdfs:label nl Zwelling van de weke delen van interfalangeale gewrichten CANDIDATE +en Soft, doughy skin HP:0001027 rdfs:label nl Zachte, deegachtig huid CANDIDATE +en Soft-tissue ossification around the shoulders HP:0003837 rdfs:label nl Ossificatie van weke delen rond de schouders CANDIDATE +en Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness HP:0033990 IAO:0000115 nl Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness NOT_TRANSLATED +en Solar urticaria HP:0410137 rdfs:label nl Solar urticaria NOT_TRANSLATED +en Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei HP:0032392 IAO:0000115 nl Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei NOT_TRANSLATED +en Solid pulmonary nodule HP:0033609 rdfs:label nl Solid pulmonary nodule NOT_TRANSLATED +en Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes HP:0033613 IAO:0000115 nl Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes NOT_TRANSLATED +en Solitary angiokeratoma HP:0034408 rdfs:label nl Solitary angiokeratoma NOT_TRANSLATED +en Solitary bladder diverticulum HP:0008691 rdfs:label nl Enkele blaas divertikel CANDIDATE +en Solitary congenital hypertrophy of retinal pigment epithelium HP:0011528 rdfs:label nl Solitaire congenitale hypertrofie van retina pigment epitheel CANDIDATE +en Solitary median maxillary central incisor HP:0006315 rdfs:label nl Enkele mediane maxillaire snijtand CANDIDATE +en Somatic mosaicism HP:0001442 rdfs:label nl Somatisch mozaïcisme CANDIDATE +en Somatic mutation HP:0001428 rdfs:label nl Somatische mutatie CANDIDATE +en Somatic sensory dysfunction HP:0003474 rdfs:label nl Sensorische handicap CANDIDATE +en Somatosensory-induced seizure HP:0020213 rdfs:label nl Somatosensory-induced seizure NOT_TRANSLATED +en Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance HP:0006119 IAO:0000115 nl Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance NOT_TRANSLATED +en Somewhat rapid onset and change of disease manifestations HP:0011011 IAO:0000115 nl Somewhat rapid onset and change of disease manifestations NOT_TRANSLATED +en Somnambulism HP:0025236 rdfs:label nl Somnambulisme CANDIDATE +en Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign HP:0025656 IAO:0000115 nl Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign NOT_TRANSLATED +en Sonographic non-visualized fetal bladder HP:0034217 rdfs:label nl Sonographic non-visualized fetal bladder NOT_TRANSLATED +en Sound sensitivity HP:0025112 rdfs:label nl Geluidsgevoeligheid CANDIDATE +en Sparse and small myenteric ganglia HP:0025150 IAO:0000115 nl Sparse and small myenteric ganglia NOT_TRANSLATED +en Sparse anterior scalp hair HP:0004768 rdfs:label nl Spaarzaam anterieur hoofdhaar CANDIDATE +en Sparse axillary hair HP:0002215 rdfs:label nl Spaarzaam okselhaar CANDIDATE +en Sparse body hair HP:0002231 rdfs:label nl Spaarzaame lichaamsbeharing CANDIDATE +en Sparse bone trabeculae HP:0002752 rdfs:label nl Spaarzame trabeculae CANDIDATE +en Sparse eyebrow HP:0045075 rdfs:label nl Spaarzame wenkbrauw CANDIDATE +en Sparse eyelashes HP:0000653 rdfs:label nl Dunne wimpers CANDIDATE +en Sparse facial hair HP:0007464 rdfs:label nl Spaarzaam gezichtshaar CANDIDATE +en Sparse hair HP:0008070 rdfs:label nl Spaarzaam haar CANDIDATE +en Sparse lateral eyebrow HP:0005338 rdfs:label nl Spaarzame laterale wenkbrauw CANDIDATE +en Sparse lower eyelashes HP:0007776 rdfs:label nl Spaarzame onderste wimpers CANDIDATE +en Sparse medial eyebrow HP:0025325 rdfs:label nl Spaarzame mediale wenkbrauw CANDIDATE +en Sparse or absent eyelashes HP:0200102 rdfs:label nl Spaarzame of afwezige wimpers CANDIDATE +en Sparse pubic hair HP:0002225 rdfs:label nl Spaarzaam schaamhaar CANDIDATE +en Sparse scalp hair HP:0002209 rdfs:label nl Spaarzaam hoofdhaar CANDIDATE +en Sparse upper eyelashes HP:0040050 rdfs:label nl Spaarzame bovenste wimpers CANDIDATE +en Sparseness of the body hair HP:0002231 IAO:0000115 nl Sparseness of the body hair NOT_TRANSLATED +en Spasmus nutans HP:0010533 rdfs:label nl Spasmus nutans CANDIDATE +en Spastic ataxia HP:0002497 rdfs:label nl Spastische ataxie CANDIDATE +en Spastic diplegia HP:0001264 rdfs:label nl Spastische diplegie CANDIDATE +en Spastic dysarthria HP:0002464 rdfs:label nl Spastische dysartrie CANDIDATE +en Spastic gait HP:0002064 rdfs:label nl Spastische gang CANDIDATE +en Spastic hemiparesis HP:0011099 rdfs:label nl Spastische hemiparese CANDIDATE +en Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster HP:0031957 IAO:0000115 nl Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster NOT_TRANSLATED +en Spastic hemiparetic gait HP:0031957 rdfs:label nl Spastic hemiparetic gait NOT_TRANSLATED +en Spastic paralysis affecting all four limbs HP:0002510 IAO:0000115 nl Spastic paralysis affecting all four limbs NOT_TRANSLATED +en Spastic paraparesis HP:0002313 rdfs:label nl Spastische paraparese CANDIDATE +en Spastic paraparetic gait HP:0031958 rdfs:label nl Spastic paraparetic gait NOT_TRANSLATED +en Spastic paraplegia HP:0001258 rdfs:label nl Spastische dwarslaesie CANDIDATE +en Spastic tetraparesis HP:0001285 rdfs:label nl Spastische tetraparese CANDIDATE +en Spastic tetraplegia HP:0002510 rdfs:label nl Spastische tetraplegie CANDIDATE +en Spastic triplegia HP:0034183 rdfs:label nl Spastic triplegia NOT_TRANSLATED +en Spastic weakness affecting all four limbs HP:0001285 IAO:0000115 nl Spastic weakness affecting all four limbs NOT_TRANSLATED +en Spastic weakness found in both lower extremities and one upper extremity HP:0034183 IAO:0000115 nl Spastic weakness found in both lower extremities and one upper extremity NOT_TRANSLATED +en Spastic/hyperactive bladder HP:0005340 rdfs:label nl Spastische/hyperactieve blaas CANDIDATE +en Spasticity HP:0001257 rdfs:label nl Spasticiteit CANDIDATE +en Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis HP:0001264 IAO:0000115 nl Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis NOT_TRANSLATED +en Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis HP:0002061 IAO:0000115 nl Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis NOT_TRANSLATED +en Spasticity and weakness of the leg and hip muscles HP:0001258 IAO:0000115 nl Spasticity and weakness of the leg and hip muscles NOT_TRANSLATED +en Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg HP:0002064 IAO:0000115 nl Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg NOT_TRANSLATED +en Spasticity of facial muscles HP:0002491 rdfs:label nl Spasticiteit aangezichtsmusculatuur CANDIDATE +en Spasticity of one or more muscles innervated by the facial nerve HP:0002491 IAO:0000115 nl Spasticity of one or more muscles innervated by the facial nerve NOT_TRANSLATED +en Spasticity of pharyngeal muscles HP:0002501 rdfs:label nl Spasticiteit van de faryngeale spieren CANDIDATE +en Spasticity that increases in degree with time HP:0002191 IAO:0000115 nl Spasticity that increases in degree with time NOT_TRANSLATED +en Spatial pattern HP:0012836 rdfs:label nl Spatieel patroon CANDIDATE +en Spatulate ribs HP:0012307 rdfs:label nl Spatelvormige ribben CANDIDATE +en Spatulate thumbs HP:0001222 rdfs:label nl Spatelvormige duimen CANDIDATE +en Specific anosmia HP:0012247 rdfs:label nl Specifieke anosmie CANDIDATE +en Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis HP:0030201 IAO:0000115 nl Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis NOT_TRANSLATED +en Specific learning disability HP:0001328 rdfs:label nl Specifieke leerstoornis CANDIDATE +en Speckled corneal dystrophy HP:0007962 rdfs:label nl Gespikkelde cornea dystrofie CANDIDATE +en Speech apraxia HP:0011098 rdfs:label nl Spraak apraxie CANDIDATE +en Speech articulation difficulties HP:0009088 rdfs:label nl Spraak articulatie problemen CANDIDATE +en Sperm cells lacking flagella HP:0032558 IAO:0000115 nl Sperm cells lacking flagella NOT_TRANSLATED +en Sperm cells whose flagella are twisted (coiled) HP:0032560 IAO:0000115 nl Sperm cells whose flagella are twisted (coiled) NOT_TRANSLATED +en Sperm cells with abnormally short flagella HP:0032559 IAO:0000115 nl Sperm cells with abnormally short flagella NOT_TRANSLATED +en Sperm with cigar-shaped heads that gradually dimish in diameter (taper) HP:0032562 IAO:0000115 nl Sperm with cigar-shaped heads that gradually dimish in diameter (taper) NOT_TRANSLATED +en Spermatocele HP:0033808 rdfs:label nl Spermatocele NOT_TRANSLATED +en Spermatogenesis maturation arrest HP:0031038 rdfs:label nl Spermatogenesis maturation arrest NOT_TRANSLATED +en Spermatozoa with multiple flagella attached to the sperm head HP:0034309 IAO:0000115 nl Spermatozoa with multiple flagella attached to the sperm head NOT_TRANSLATED +en Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head HP:0012869 IAO:0000115 nl Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head NOT_TRANSLATED +en Spherocytosis HP:0004444 rdfs:label nl Sferocytose CANDIDATE +en Spheroid bodies HP:0034509 rdfs:label nl Spheroid bodies NOT_TRANSLATED +en Spherophakia HP:0034375 rdfs:label nl Spherophakia NOT_TRANSLATED +en Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical HP:0034375 IAO:0000115 nl Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical NOT_TRANSLATED +en Sphincter of Oddi dyskinesia HP:0012441 rdfs:label nl Sfincter van Oddi dyskinesie CANDIDATE +en Spider hemangioma HP:0012522 rdfs:label nl Spider naevus CANDIDATE +en Spina bifida HP:0002414 rdfs:label nl Spina bifida CANDIDATE +en Spina bifida occulta HP:0003298 rdfs:label nl Spina bifida occulta CANDIDATE +en Spina bifida occulta at L5 HP:0004601 rdfs:label nl Spina bifida occulta op L5 CANDIDATE +en Spina bifida occulta at S1 HP:0004614 rdfs:label nl Spina bifida occulta op S1 CANDIDATE +en Spinal arachnoid cyst HP:0009745 rdfs:label nl Spinale arachnoïdale cyste CANDIDATE +en Spinal arteriovenous malformation HP:0002390 rdfs:label nl Spinale arterioveneuze malformatie CANDIDATE +en Spinal canal stenosis HP:0003416 rdfs:label nl Spinaalkanaalstenose CANDIDATE +en Spinal cord calcifications HP:0034484 rdfs:label nl Spinal cord calcifications NOT_TRANSLATED +en Spinal cord compression HP:0002176 rdfs:label nl Ruggenmerg compressie CANDIDATE +en Spinal cord lesion HP:0100561 rdfs:label nl Ruggenmerg lesie CANDIDATE +en Spinal cord posterior columns myelin loss HP:0008311 rdfs:label nl Ruggenmerg posterieure kolommen myeline verlies CANDIDATE +en Spinal cord tumor HP:0010302 rdfs:label nl Spinaal neoplasma CANDIDATE +en Spinal dysplasia HP:0008423 rdfs:label nl Spinale dysplasie CANDIDATE +en Spinal dysraphism HP:0010301 rdfs:label nl Spinaal dysraphisme CANDIDATE +en Spinal epidural abscess HP:0033181 rdfs:label nl Spinal epidural abscess NOT_TRANSLATED +en Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA HP:0033181 IAO:0000115 nl Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect ofthe abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina. Left untreated, the infection can lead to sensory loss,muscle weakness, visceral dysfunction, sepsis, and even death. Early diagnosis is essential to limit mor-bidity and neurologic injury. The classic triad of fever, axial pain, and neurological deficit occurs in as few as 13 percent of patients, highlighting the diagnosticchallenge associated with SEA NOT_TRANSLATED +en Spinal hemangioblastoma HP:0009713 rdfs:label nl Spinaal hemangioblastoom CANDIDATE +en Spinal hypomyelination HP:0033846 rdfs:label nl Spinal hypomyelination NOT_TRANSLATED +en Spinal instability HP:0005881 rdfs:label nl Spinale instabiliteit CANDIDATE +en Spinal meningeal diverticulum HP:0010304 rdfs:label nl Spinaal meningeaal divertikel CANDIDATE +en Spinal meningioma HP:0100010 rdfs:label nl Spinaal meningeoom CANDIDATE +en Spinal muscular atrophy HP:0007269 rdfs:label nl Spinale musculaire atrofie CANDIDATE +en Spinal myoclonus HP:0010531 rdfs:label nl Spinale myoclonus CANDIDATE +en Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia HP:0010531 IAO:0000115 nl Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia NOT_TRANSLATED +en Spinal neurenteric cyst HP:0030726 rdfs:label nl Spinale neurenterische cyste CANDIDATE +en Spinal neurofibromas HP:0009735 rdfs:label nl Spinale neurofibromen CANDIDATE +en Spinal rigidity HP:0003306 rdfs:label nl Spinale rigiditeit CANDIDATE +en Spinal stenosis with reduced interpedicular distance HP:0005733 rdfs:label nl Spinale stenose met verminderde interpediculaire afstand CANDIDATE +en Spindle-shaped finger HP:0031092 rdfs:label nl Spindel-vormige vinger CANDIDATE +en Spinocerebellar atrophy HP:0007263 rdfs:label nl Spinocerebellaire atrofie CANDIDATE +en Spinocerebellar tract degeneration HP:0002503 rdfs:label nl Spinocerebellaire baan degeneratie CANDIDATE +en Spinocerebellar tract disease in lower limbs HP:0007232 rdfs:label nl Spinocerebellaire baan ziekte in de onderste ledematen CANDIDATE +en Spinous keratoses of palms and soles HP:0007613 rdfs:label nl Spineuse keratose van palmen en zolen CANDIDATE +en Spiral fracture HP:4000045 rdfs:label nl Spiral fracture NOT_TRANSLATED +en Splanchnic vein thrombosis HP:0030247 rdfs:label nl Splanchnicus trombose CANDIDATE +en Splayed epiphyses HP:0200003 rdfs:label nl Gespreide epifysen CANDIDATE +en Splayed fingers HP:0030029 rdfs:label nl Gespreide vingers CANDIDATE +en Splayed superior cerebellar peduncle HP:0030285 rdfs:label nl Splayed superior cerebellar peduncle NOT_TRANSLATED +en Splayed toes HP:0011307 rdfs:label nl Gespreide tenen CANDIDATE +en Spleen hamartoma HP:4000106 rdfs:label nl Spleen hamartoma NOT_TRANSLATED +en Spleen hemangioma HP:0410268 rdfs:label nl Spleen hemangioma NOT_TRANSLATED +en Splenic abscess HP:0025059 rdfs:label nl Milt abces CANDIDATE +en Splenic cyst HP:0030423 rdfs:label nl Milt cyste CANDIDATE +en Splenic infarction HP:0034336 rdfs:label nl Splenic infarction NOT_TRANSLATED +en Splenic rupture HP:0012223 rdfs:label nl Miltruptuur CANDIDATE +en Splenogonadal fusion HP:0025410 rdfs:label nl Splenogonadale fusie CANDIDATE +en Splenomegaly HP:0001744 rdfs:label nl Splenomegalie CANDIDATE +en Splenopancreatic fusion HP:0032075 rdfs:label nl Splenopancreatic fusion NOT_TRANSLATED +en Split foot HP:0001839 rdfs:label nl Gespleten voet CANDIDATE +en Split hand HP:0001171 rdfs:label nl Ectrodactylie CANDIDATE +en Split nail HP:0001809 rdfs:label nl Gespleten nagel CANDIDATE +en Splitting of the neuroretinal layers of the retina HP:0030502 IAO:0000115 nl Splitting of the neuroretinal layers of the retina NOT_TRANSLATED +en Splitting of the retina in the macular region HP:0011511 IAO:0000115 nl Splitting of the retina in the macular region NOT_TRANSLATED +en Splitting of the retinal layers in the macula HP:0012152 IAO:0000115 nl Splitting of the retinal layers in the macula NOT_TRANSLATED +en Spoken word recognition deficit HP:0030391 rdfs:label nl Spoken word recognition deficit NOT_TRANSLATED +en Spondylitis HP:0033631 rdfs:label nl Spondylitis NOT_TRANSLATED +en Spondyloepimetaphyseal dysplasia HP:0002651 rdfs:label nl Spondyloepimetafysaire dysplasie CANDIDATE +en Spondyloepiphyseal dysplasia HP:0002655 rdfs:label nl Spondyloepifysaire dysplasie CANDIDATE +en Spondylolisthesis HP:0003302 rdfs:label nl Spondylolisthesis CANDIDATE +en Spondylolisthesis at L5-S1 HP:0008489 rdfs:label nl Spondylolisthesis op L5-S1 CANDIDATE +en Spondylolysis HP:0003304 rdfs:label nl Spondylolysis CANDIDATE +en Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma HP:0003304 IAO:0000115 nl Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma NOT_TRANSLATED +en Spondylometaphyseal dysplasia HP:0002657 rdfs:label nl Spondyloemetafysaire dysplasie CANDIDATE +en Spontaneous cerebrospinal fluid leak HP:0032934 rdfs:label nl Spontaneous cerebrospinal fluid leak NOT_TRANSLATED +en Spontaneous chorioamniotic separation HP:0025712 rdfs:label nl Spontaneous chorioamniotic separation NOT_TRANSLATED +en Spontaneous conjunctival filtering bleb HP:0020125 rdfs:label nl Spontaneous conjunctival filtering bleb NOT_TRANSLATED +en Spontaneous detachment (amputation) of an appendage from the body HP:0001218 IAO:0000115 nl Spontaneous detachment (amputation) of an appendage from the body NOT_TRANSLATED +en Spontaneous detachment of a foot from the body HP:0001868 IAO:0000115 nl Spontaneous detachment of a foot from the body NOT_TRANSLATED +en Spontaneous development of hematomas (hematoma) or bruises without significant trauma HP:0007420 IAO:0000115 nl Spontaneous development of hematomas (hematoma) or bruises without significant trauma NOT_TRANSLATED +en Spontaneous esophageal perforation HP:0005203 rdfs:label nl Spontane oesofageale perforatie CANDIDATE +en Spontaneous flow of milk from the breast, unassociated with childbirth or nursing HP:0100829 IAO:0000115 nl Spontaneous flow of milk from the breast, unassociated with childbirth or nursing NOT_TRANSLATED +en Spontaneous hematomas HP:0007420 rdfs:label nl Spontane hematomen CANDIDATE +en Spontaneous hemolytic crises HP:0005525 rdfs:label nl Spontane hemolytische crises CANDIDATE +en Spontaneous neonatal pneumothorax HP:0004876 rdfs:label nl Spontane neonatale pneumothorax CANDIDATE +en Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger HP:0010833 IAO:0000115 nl Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger NOT_TRANSLATED +en Spontaneous pain sensation HP:0010833 rdfs:label nl Spontane pijn sensatie CANDIDATE +en Spontaneous platelet aggregation HP:0030403 rdfs:label nl Spontane bloedplaatjesaggregatie CANDIDATE +en Spontaneous pneumothorax HP:0002108 rdfs:label nl Spontane pneumothorax CANDIDATE +en Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions HP:4000089 IAO:0000115 nl Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions NOT_TRANSLATED +en Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures HP:0034481 IAO:0000115 nl Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures NOT_TRANSLATED +en Spontaneous rupture of the globe HP:0010727 rdfs:label nl Spontane ruptuur van de oogbal CANDIDATE +en Spontaneous, recurrent epistaxis HP:0004406 rdfs:label nl Spontane, recidiverende epistaxis CANDIDATE +en Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG) HP:0003730 IAO:0000115 nl Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG) NOT_TRANSLATED +en Spoon-shaped, broad thumbs HP:0001222 IAO:0000115 nl Spoon-shaped, broad thumbs NOT_TRANSLATED +en Sporadic HP:0003745 rdfs:label nl Sporadisch CANDIDATE +en Spotty hyperpigmentation HP:0005585 rdfs:label nl Vlekkerige hyperpigmentatie CANDIDATE +en Spotty hypopigmentation HP:0005590 rdfs:label nl Vlekkerige hypopigmentatie CANDIDATE +en Sprengel anomaly HP:0000912 rdfs:label nl Sprengel anomalie CANDIDATE +en Spurred humeral metaphysis HP:0003922 rdfs:label nl Spurred humeral metaphysis NOT_TRANSLATED +en Spurred metaphyses of the upper limbs HP:0003855 rdfs:label nl Spurred metaphyses of the upper limbs NOT_TRANSLATED +en Spurred radial metaphysis HP:0004025 rdfs:label nl Spurred radial metaphysis NOT_TRANSLATED +en Spurred ulnar metaphysis HP:0004046 rdfs:label nl Spurred ulnar metaphysis NOT_TRANSLATED +en Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident HP:0034044 IAO:0000115 nl Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident NOT_TRANSLATED +en Spurs of radial diaphysis HP:0004028 rdfs:label nl Uitlopers van diafyse van de radius CANDIDATE +en Sputum eosinophilia HP:0032017 rdfs:label nl Sputum eosinophilia NOT_TRANSLATED +en Squamosal suture synostosis HP:6000612 rdfs:label nl Sutura squamosa cranii synostose OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Squamous Papilloma HP:0031021 rdfs:label nl Squameus papilloom CANDIDATE +en Squamous cell carcinoma HP:0002860 rdfs:label nl Plaveiselcelcarcinoom CANDIDATE +en Squamous cell carcinoma of the skin HP:0006739 rdfs:label nl Plaveiselcelcarcinoom van de huid CANDIDATE +en Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium HP:0006739 IAO:0000115 nl Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium NOT_TRANSLATED +en Squamous cell carcinoma of the tongue HP:0030413 rdfs:label nl Plaveiselcelcarcinoom van de tong CANDIDATE +en Squamous cell carcinoma of the vulva HP:0030417 rdfs:label nl Plaveiselcelcarcinoom van de vulva CANDIDATE +en Squamous cell lung carcinoma HP:0030359 rdfs:label nl Plaveiselcelcarcinoom van long CANDIDATE +en Square face HP:0000321 rdfs:label nl Vierkant gelaat CANDIDATE +en Square humeral metaphysis HP:0003923 rdfs:label nl Vierkante metafyse van de humerus CANDIDATE +en Square pelvis bone HP:0003278 rdfs:label nl Vierkant bekken bot CANDIDATE +en Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion HP:0025402 IAO:0000115 nl Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion NOT_TRANSLATED +en Square-wave jerks HP:0025402 rdfs:label nl Square-wave jerks NOT_TRANSLATED +en Squared iliac bones HP:0003177 rdfs:label nl Squared iliac bones NOT_TRANSLATED +en Squared superior portion of helix HP:0030026 rdfs:label nl Squared superior portion of helix NOT_TRANSLATED +en Squared-off platyspondyly HP:0008418 rdfs:label nl Squared-off platyspondyly NOT_TRANSLATED +en Squawks HP:0031995 rdfs:label nl Squawks NOT_TRANSLATED +en Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles HP:0031995 IAO:0000115 nl Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles NOT_TRANSLATED +en Stable HP:0031915 rdfs:label nl Stable NOT_TRANSLATED +en Staccato cry HP:0025431 rdfs:label nl Staccato kreet CANDIDATE +en Stage 1 chronic kidney disease HP:0012623 rdfs:label nl Fase 1 chronische nierziekte CANDIDATE +en Stage 2 chronic kidney disease HP:0012624 rdfs:label nl Fase 2 chronische nierziekte CANDIDATE +en Stage 3 chronic kidney disease HP:0012625 rdfs:label nl Fase 3 chronische nierziekte CANDIDATE +en Stage 4 chronic kidney disease HP:0012626 rdfs:label nl Fase 4 chronische nierziekte CANDIDATE +en Stage 5 chronic kidney disease HP:0003774 rdfs:label nl Stadium 5 chronische nierziekte CANDIDATE +en Staghorn calculus HP:0033591 rdfs:label nl Staghorn calculus NOT_TRANSLATED +en Stagnation of head growth seen as flattening of the head circumference curve HP:0004485 IAO:0000115 nl Stagnation of head growth seen as flattening of the head circumference curve NOT_TRANSLATED +en Stahl ear HP:0100015 rdfs:label nl Stahl oor CANDIDATE +en Stapes ankylosis HP:0000381 rdfs:label nl Ankylose van de stijgbeugel CANDIDATE +en Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles) HP:0000381 IAO:0000115 nl Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles) NOT_TRANSLATED +en Starch intolerance HP:0041049 rdfs:label nl Starch intolerance NOT_TRANSLATED +en Staring gaze HP:0025401 rdfs:label nl Starende blik CANDIDATE +en Starry sky appearance on hepatic sonography HP:0031145 rdfs:label nl Starry sky appearance on hepatic sonography NOT_TRANSLATED +en Startle-induced seizure HP:0020214 rdfs:label nl Startle-induced seizure NOT_TRANSLATED +en Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus HP:0020214 IAO:0000115 nl Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus NOT_TRANSLATED +en Stasis dermatitis HP:0033564 rdfs:label nl Stasis dermatitis NOT_TRANSLATED +en Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus HP:0033564 IAO:0000115 nl Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus NOT_TRANSLATED +en Static ophthalmoparesis HP:0008507 rdfs:label nl Statische oftalmoparese CANDIDATE +en Statin exposure HP:4000114 rdfs:label nl Statin exposure NOT_TRANSLATED +en Status asthmaticus HP:0012653 rdfs:label nl Status asthmaticus CANDIDATE +en Status cribrosum HP:0025012 rdfs:label nl Status cribrosum NOT_TRANSLATED +en Status epilepticus HP:0002133 rdfs:label nl Status epilepticus CANDIDATE +en Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements HP:0032666 IAO:0000115 nl Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements NOT_TRANSLATED +en Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures HP:0002133 IAO:0000115 nl Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures NOT_TRANSLATED +en Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement HP:0032663 IAO:0000115 nl Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement NOT_TRANSLATED +en Status epilepticus with ictal paresis HP:0032862 rdfs:label nl Status epilepticus with ictal paresis NOT_TRANSLATED +en Status epilepticus with prominent motor signs during the prolonged seizure HP:0032658 IAO:0000115 nl Status epilepticus with prominent motor signs during the prolonged seizure NOT_TRANSLATED +en Status epilepticus with prominent motor symptoms HP:0032658 rdfs:label nl Status epilepticus with prominent motor symptoms NOT_TRANSLATED +en Status epilepticus without prominent motor symptoms HP:0031475 rdfs:label nl Non-convulsieve status epilepticus CANDIDATE +en Status post organ transplantation HP:0032444 rdfs:label nl Status post organ transplantation NOT_TRANSLATED +en Steatocystoma multiplex HP:0012035 rdfs:label nl Steatocystoma multiplex CANDIDATE +en Steatorrhea HP:0002570 rdfs:label nl Steatorroe CANDIDATE +en Steatosis in the myocardium HP:0006693 IAO:0000115 nl Steatosis in the myocardium NOT_TRANSLATED +en Steatosis is a term used to denote lipid accumulation within hepatocytes HP:0001397 IAO:0000115 nl Steatosis is a term used to denote lipid accumulation within hepatocytes NOT_TRANSLATED +en Steep acetabular roof HP:0010455 rdfs:label nl Steil dak van acetabulum CANDIDATE +en Stellate iris HP:0012775 rdfs:label nl Iris stellata CANDIDATE +en Stenosis of a peripheral branch of the pulmonary artery HP:0004969 IAO:0000115 nl Stenosis of a peripheral branch of the pulmonary artery NOT_TRANSLATED +en Stenosis of the Eustachian tube HP:0040118 rdfs:label nl Stenose van de buis van Eustachius CANDIDATE +en Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum HP:0002410 IAO:0000115 nl Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum NOT_TRANSLATED +en Stenosis of the external auditory canal HP:0000402 rdfs:label nl Stenose van het externe auditieve kanaal CANDIDATE +en Stenosis of the medullary cavity of the long bones HP:0100254 rdfs:label nl Stenose van de medullaire holte van de lange botten CANDIDATE +en Steppage gait HP:0003376 rdfs:label nl Steppegang CANDIDATE +en Stercoral ulcer HP:0012425 rdfs:label nl Stercoral ulcer NOT_TRANSLATED +en Stereotypical body rocking HP:0012172 rdfs:label nl Stereotypical body rocking NOT_TRANSLATED +en Stereotypical hand wringing HP:0012171 rdfs:label nl Stereotypisch hand wrijven CANDIDATE +en Sterile abscess HP:0025616 rdfs:label nl Sterile abscess NOT_TRANSLATED +en Sterile arthritis HP:0040310 rdfs:label nl Steriele artritis CANDIDATE +en Sterile pyuria HP:0100586 rdfs:label nl Aseptische leukocyturie CANDIDATE +en Sternal pit HP:0410277 rdfs:label nl Sternal pit NOT_TRANSLATED +en Sternal punctate calcifications HP:0006637 rdfs:label nl Sternal punctate calcifications NOT_TRANSLATED +en Sternocleidomastoid amyotrophy HP:0012036 rdfs:label nl Sternocleidomastoideus amyotrofie CANDIDATE +en Steroetypic upper-extremity movements HP:5200018 rdfs:label nl Steroetypische bewegingen van de bovenste extremiteit OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Steroid-dependent nephrotic syndrome HP:0025650 rdfs:label nl Steroid-dependent nephrotic syndrome NOT_TRANSLATED +en Steroid-resistant nephrotic syndrome HP:0012588 rdfs:label nl Steroïde-resistent nefrotisch syndroom CANDIDATE +en Steroid-responsive anemia HP:0033074 rdfs:label nl Steroid-responsive anemia NOT_TRANSLATED +en Steroid-sensitive nephrotic syndrome HP:0025647 rdfs:label nl Steroid-sensitive nephrotic syndrome NOT_TRANSLATED +en Steroid-sensitive nephrotic syndrome with frequent relapses HP:0025649 rdfs:label nl Steroid-sensitive nephrotic syndrome with frequent relapses NOT_TRANSLATED +en Steroid-sensitive nephrotic syndrome with infrequent relapses HP:0025648 rdfs:label nl Steroid-sensitive nephrotic syndrome with infrequent relapses NOT_TRANSLATED +en Stiff ankle HP:0025264 rdfs:label nl Stijve enkel CANDIDATE +en Stiff elbow HP:0025259 rdfs:label nl Stijve elleboog CANDIDATE +en Stiff finger HP:0025261 rdfs:label nl Stijve vinger CANDIDATE +en Stiff hip HP:0025262 rdfs:label nl Stijve heup CANDIDATE +en Stiff interphalangeal joints HP:0005198 rdfs:label nl Stijve interfalangeale gewrichten CANDIDATE +en Stiff knee HP:0025263 rdfs:label nl Stijve knie CANDIDATE +en Stiff neck HP:0025258 rdfs:label nl Stijve nek CANDIDATE +en Stiff shoulders HP:0009742 rdfs:label nl Stijve schouders CANDIDATE +en Stiff skin HP:0030053 rdfs:label nl Stijve huid CANDIDATE +en Stiff toe HP:0025265 rdfs:label nl Stijve teen CANDIDATE +en Stiff tongue HP:0031373 rdfs:label nl Stijve tong CANDIDATE +en Stiff wrist HP:0025260 rdfs:label nl Stijve pols CANDIDATE +en Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature HP:0006921 IAO:0000115 nl Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature NOT_TRANSLATED +en Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern HP:0007156 IAO:0000115 nl Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern NOT_TRANSLATED +en Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle HP:0007066 IAO:0000115 nl Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle NOT_TRANSLATED +en Stillbirth HP:0003826 rdfs:label nl Intra-uteriene vruchtdood CANDIDATE +en Stimulant addiction HP:0033512 rdfs:label nl Stimulant addiction NOT_TRANSLATED +en Stippled calcification in carpal bones HP:0004241 rdfs:label nl Gespikkelde verkalking van de carpale botten CANDIDATE +en Stippled calcification of hand bones HP:0004291 rdfs:label nl Gespikkelde verkalking van de botten van de hand CANDIDATE +en Stippled calcification of humeral metaphysis HP:0003924 rdfs:label nl Gespikkelde verkalking van metafyse van de humerus CANDIDATE +en Stippled calcification of the elbow HP:0003941 rdfs:label nl Gespikkelde verkalking van de elleboog CANDIDATE +en Stippled calcification of the humeral epiphyses HP:0003901 rdfs:label nl Gespikkelde verkalking van de epifysen van de humerus CANDIDATE +en Stippled calcification of the shoulder HP:0003836 rdfs:label nl Gespikkelde verkalking van de schouder CANDIDATE +en Stippled calcification proximal humeral epiphyses HP:0008838 rdfs:label nl Gespikkelde verkalking van de proximale epifysen van de humerus CANDIDATE +en Stippled chondral calcification HP:0002764 rdfs:label nl Gespikkelde chondrale verkalking CANDIDATE +en Stippling of the epiphyses of the 2nd finger HP:0009497 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 2e vinger CANDIDATE +en Stippling of the epiphyses of the 2nd toe HP:0100053 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 2e teen CANDIDATE +en Stippling of the epiphyses of the 3rd finger HP:0009419 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 3e vinger CANDIDATE +en Stippling of the epiphyses of the 3rd toe HP:0100064 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 3e teen CANDIDATE +en Stippling of the epiphyses of the 4th finger HP:0009402 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 4e vinger CANDIDATE +en Stippling of the epiphyses of the 4th toe HP:0100075 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 4e teen CANDIDATE +en Stippling of the epiphyses of the 5th finger HP:0009391 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 5e vinger CANDIDATE +en Stippling of the epiphyses of the 5th toe HP:0100086 rdfs:label nl Vlekkerige calcificaties van de epifysen van de 5e teen CANDIDATE +en Stippling of the epiphyses of the distal phalanges of the hand HP:0010255 rdfs:label nl Vlekkerige calcificaties van de epifysen van distale falangen van hand CANDIDATE +en Stippling of the epiphyses of the hallux HP:0010122 rdfs:label nl Vlekkerige calcificaties van de epifysen van de hallux CANDIDATE +en Stippling of the epiphyses of the middle phalanges of the hand HP:0010266 rdfs:label nl Vlekkerige calcificaties van de epifysen van middelste falangen van hand CANDIDATE +en Stippling of the epiphyses of the proximal phalanges of the hand HP:0010277 rdfs:label nl Vlekkerige calcificaties van de epifysen van proximale falangen van hand CANDIDATE +en Stippling of the epiphysis of the 1st metatarsal HP:0010158 rdfs:label nl Vlekkerige calcificaties van de epifyse van de 1e metatarsaal CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 2nd finger HP:0009511 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 2e vinger CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 2nd toe HP:0100109 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 2e teen CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 3rd finger HP:0009344 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 3e vinger CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 3rd toe HP:0100144 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 3e teen CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 4th finger HP:0009259 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 4e vinger CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 4th toe HP:0100178 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 4e teen CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 5th finger HP:0009165 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 5e vinger CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the 5th toe HP:0100211 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de 5e teen CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the hallux HP:0010147 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de hallux CANDIDATE +en Stippling of the epiphysis of the distal phalanx of the thumb HP:0009684 rdfs:label nl Vlekkerige calcificaties van de epifyse van de distale falanx van de duim CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 2nd finger HP:0009522 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 2nd toe HP:0100120 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 2e teen CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 3rd finger HP:0009330 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 3rd toe HP:0100155 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 3e teen CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 4th finger HP:0009223 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 4th toe HP:0100189 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 4e teen CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 5th finger HP:0009212 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Stippling of the epiphysis of the middle phalanx of the 5th toe HP:0100222 rdfs:label nl Vlekkerige calcificaties van de epifyse van de middelste falanx van de 5e teen CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 2nd finger HP:0009533 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 2nd toe HP:0100131 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 2e teen CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 3rd finger HP:0009355 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 3rd toe HP:0100166 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 3e teen CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 4th finger HP:0009270 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 4th toe HP:0100200 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 4e teen CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 5th finger HP:0009201 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the 5th toe HP:0100233 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de 5e teen CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the hallux HP:0010136 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de hallux CANDIDATE +en Stippling of the epiphysis of the proximal phalanx of the thumb HP:0009673 rdfs:label nl Vlekkerige calcificaties van de epifyse van de proximale falanx van de duim CANDIDATE +en Stippling of thumb epiphysis HP:0009695 rdfs:label nl Vlekkerige calcificaties van epifyse van de duim CANDIDATE +en Stomach cancer HP:0012126 rdfs:label nl Maagkanker CANDIDATE +en Stomatitis HP:0010280 rdfs:label nl Stomatitis CANDIDATE +en Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth HP:0010280 IAO:0000115 nl Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth NOT_TRANSLATED +en Stomatocytosis HP:0004446 rdfs:label nl Stomatocytose CANDIDATE +en Stool xenobiotic HP:0500097 rdfs:label nl Stool xenobiotic NOT_TRANSLATED +en Stooped posture HP:0025403 rdfs:label nl Gebogen houding CANDIDATE +en Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone HP:0010588 IAO:0000115 nl Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED +en Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone HP:0012565 IAO:0000115 nl Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED +en Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone HP:0012563 IAO:0000115 nl Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED +en Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone HP:0012562 IAO:0000115 nl Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED +en Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone HP:0012566 IAO:0000115 nl Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED +en Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone HP:0012564 IAO:0000115 nl Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED +en Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone HP:0012567 IAO:0000115 nl Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone NOT_TRANSLATED +en Storage in hepatocytes HP:0031137 rdfs:label nl Opslag in hepatocyten CANDIDATE +en Strabismus HP:0000486 rdfs:label nl Strabismus CANDIDATE +en Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort HP:0025068 IAO:0000115 nl Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort NOT_TRANSLATED +en Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing HP:0025069 IAO:0000115 nl Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing NOT_TRANSLATED +en Straddling atrioventricular valve HP:0011562 rdfs:label nl Straddling atrioventricular valve NOT_TRANSLATED +en Straight clavicles HP:0006587 rdfs:label nl Rechte claviculae CANDIDATE +en Stratum basale cleavage HP:0034193 rdfs:label nl Stratum basale cleavage NOT_TRANSLATED +en Strawberry tongue HP:0031042 rdfs:label nl Aardbeientong CANDIDATE +en Streak ovary HP:0010464 rdfs:label nl Streak ovary NOT_TRANSLATED +en Streaks of hyperkeratosis along each finger onto the palm HP:0007501 rdfs:label nl Stroken van hyperkeratose langs elke vinger op de palm CANDIDATE +en Streaky metaphyseal sclerosis HP:0005092 rdfs:label nl Streaky metaphyseal sclerosis NOT_TRANSLATED +en Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change HP:0020203 IAO:0000115 nl Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change NOT_TRANSLATED +en Stress urinary incontinence HP:0010992 rdfs:label nl Stressincontinentie CANDIDATE +en Stress/infection-induced lactic acidosis HP:0004897 rdfs:label nl Stress/infectie-geïnduceerde lactaat acidose CANDIDATE +en Striae distensae HP:0001065 rdfs:label nl Striae distensae CANDIDATE +en Striatal T2 hyperintensity HP:0031206 rdfs:label nl Striatum T2 hyperintensiteit CANDIDATE +en Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing HP:0001602 IAO:0000115 nl Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing NOT_TRANSLATED +en Stridor HP:0010307 rdfs:label nl Stridor CANDIDATE +en Stridor is a high pitched sound resulting from turbulent air flow in the upper airway HP:0010307 IAO:0000115 nl Stridor is a high pitched sound resulting from turbulent air flow in the upper airway NOT_TRANSLATED +en Stroke HP:0001297 rdfs:label nl Beroerte CANDIDATE +en Stroke-like episode HP:0002401 rdfs:label nl Stroke-like episode CANDIDATE +en Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem HP:0001291 IAO:0000115 nl Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem NOT_TRANSLATED +en Structural abnormality of the basal ganglia related to defective development HP:0025102 IAO:0000115 nl Structural abnormality of the basal ganglia related to defective development NOT_TRANSLATED +en Structural abnormality of the hippocampus related to defective development HP:0025101 IAO:0000115 nl Structural abnormality of the hippocampus related to defective development NOT_TRANSLATED +en Structural abnormality of the hypothalamus related to defective development HP:0025098 IAO:0000115 nl Structural abnormality of the hypothalamus related to defective development NOT_TRANSLATED +en Structural abnormality of the thalamus related to defective development HP:0025099 IAO:0000115 nl Structural abnormality of the thalamus related to defective development NOT_TRANSLATED +en Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron HP:0033312 IAO:0000115 nl Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron NOT_TRANSLATED +en Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix HP:0011409 IAO:0000115 nl Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix NOT_TRANSLATED +en Structural foot deformity HP:0010219 rdfs:label nl Structurele voet deformiteit CANDIDATE +en Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate HP:0034057 IAO:0000115 nl Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate NOT_TRANSLATED +en Struvite nephrolithiasis HP:0030035 rdfs:label nl Struviet nefrolithiase CANDIDATE +en Stuttering HP:0025268 rdfs:label nl Stotteren CANDIDATE +en Sub-RPE deposits HP:0031531 rdfs:label nl Sub-RPE deposities CANDIDATE +en Sub-inner limiting membrane hemorrhage HP:0031611 rdfs:label nl Sub-inner limiting membrane hemorrhage NOT_TRANSLATED +en Sub-lamina densa cleavage HP:0033803 rdfs:label nl Sub-lamina densa cleavage NOT_TRANSLATED +en Subacute HP:0011011 rdfs:label nl Subacuut CANDIDATE +en Subacute progressive viral hepatitis HP:0006572 rdfs:label nl Subacute progressieve virale hepatitis CANDIDATE +en Subaortic ventricular septal bulge HP:0031971 rdfs:label nl Subaortic ventricular septal bulge NOT_TRANSLATED +en Subarachnoid hemorrhage HP:0002138 rdfs:label nl Subarachnoidale bloeding CANDIDATE +en Subarterial ventricular septal defect HP:0011681 rdfs:label nl Subarterieel ventrikelseptumdefect CANDIDATE +en Subcapsular cataract HP:0000523 rdfs:label nl Subcapsulair cataract CANDIDATE +en Subchorionic septal cyst HP:0030720 rdfs:label nl Subchorionic septal cyst NOT_TRANSLATED +en Subchorionic thrombohematoma HP:0030714 rdfs:label nl Subchorionic thrombohematoma NOT_TRANSLATED +en Subconjunctival hemorrhage HP:0011896 rdfs:label nl Subconjunctivale bloeding CANDIDATE +en Subcortical band heterotopia HP:0032409 rdfs:label nl Subcortical band heterotopia NOT_TRANSLATED +en Subcortical cerebral atrophy HP:0012157 rdfs:label nl Subcorticale cerebrale atrofie CANDIDATE +en Subcortical dementia HP:0007123 rdfs:label nl Subcorticale dementie CANDIDATE +en Subcortical heterotopia HP:0032391 rdfs:label nl Subcortical heterotopia NOT_TRANSLATED +en Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex HP:0032393 IAO:0000115 nl Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex NOT_TRANSLATED +en Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia HP:0032394 IAO:0000115 nl Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia NOT_TRANSLATED +en Subcortical white matter calcifications HP:0007346 rdfs:label nl Subcorticale witte stof calcificaties CANDIDATE +en Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate HP:0025553 IAO:0000115 nl Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate NOT_TRANSLATED +en Subcutaneous calcification HP:0007618 rdfs:label nl Subcutane calcificatie CANDIDATE +en Subcutaneous hemorrhage HP:0001933 rdfs:label nl Subcutane bloeding CANDIDATE +en Subcutaneous lipoma HP:0001031 rdfs:label nl Subcutane lipoom CANDIDATE +en Subcutaneous neurofibromas HP:0100698 rdfs:label nl Subcutane neurofibromen CANDIDATE +en Subcutaneous nodule HP:0001482 rdfs:label nl Subcutane noduul CANDIDATE +en Subcutaneous nodules that are located in the vicinity of joints HP:0007470 IAO:0000115 nl Subcutaneous nodules that are located in the vicinity of joints NOT_TRANSLATED +en Subcutaneous ossification HP:0034282 rdfs:label nl Subcutaneous ossification NOT_TRANSLATED +en Subcutaneous panniculitis-like T-cell lymphoma HP:0034403 rdfs:label nl Subcutaneous panniculitis-like T-cell lymphoma NOT_TRANSLATED +en Subcutaneous spheroids HP:0025014 rdfs:label nl Subcutaneous spheroids NOT_TRANSLATED +en Subdural hemorrhage HP:0100309 rdfs:label nl Subdurale bloeding CANDIDATE +en Subendothelial glomerular basement membrane electron dense deposits HP:0033500 rdfs:label nl Subendothelial glomerular basement membrane electron dense deposits NOT_TRANSLATED +en Subependymal cysts HP:0002416 rdfs:label nl Supependymale cysten CANDIDATE +en Subependymal giant-cell astrocytoma HP:0009718 rdfs:label nl Subependymaal reuscelastrocytoom CANDIDATE +en Subependymal nodules HP:0009716 rdfs:label nl Subependymale noduli CANDIDATE +en Subepidermal blistering HP:0033804 rdfs:label nl Subepidermal blistering NOT_TRANSLATED +en Subepithelial corneal opacities HP:0008039 rdfs:label nl Subepitheliale corneale opaciteiten CANDIDATE +en Subepithelial glomerular basement membrane electron dense deposits HP:0033501 rdfs:label nl Subepithelial glomerular basement membrane electron dense deposits NOT_TRANSLATED +en Subfoveal choroidal neovascularization HP:0031241 rdfs:label nl Subfoveale choroïdale neovascularisatie CANDIDATE +en Subglottic hemangioma HP:0410264 rdfs:label nl Subglottic hemangioma NOT_TRANSLATED +en Subglottic laryngitis HP:0033000 rdfs:label nl Subglottic laryngitis NOT_TRANSLATED +en Subglottic stenosis HP:0001607 rdfs:label nl Subglottische stenose CANDIDATE +en Subhyaloid hemorrhage HP:0025239 rdfs:label nl Subhyaloïde bloeding CANDIDATE +en Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer HP:0012432 IAO:0000115 nl Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer NOT_TRANSLATED +en Subjective impression of increased softness upon palpation of the skin HP:0000977 IAO:0000115 nl Subjective impression of increased softness upon palpation of the skin NOT_TRANSLATED +en Subluxation of metacarpal phalangeal joints HP:0004294 rdfs:label nl Subluxatie van metacarpale-falangeale gewrichten CANDIDATE +en Subluxation of the proximal interphalangeal joint of the little finger HP:0004230 rdfs:label nl Subluxatie van het proximale interfalangeale gewricht van de kleine vinger CANDIDATE +en Subluxation of the small joints of the hand HP:0004269 rdfs:label nl Subluxatie van de kleine gewrichten van de hand CANDIDATE +en Submacular hemorrhage HP:0025582 rdfs:label nl Submaculaire bloeding CANDIDATE +en Submandibular lymph node enlargement HP:0033176 rdfs:label nl Submandibular lymph node enlargement NOT_TRANSLATED +en Submucous cleft hard palate HP:0000176 rdfs:label nl Submukeus gespleten hard gehemelte CANDIDATE +en Submucous cleft lip HP:0009101 rdfs:label nl Submuceus gespleten lip CANDIDATE +en Submucous cleft of soft and hard palate HP:0410031 rdfs:label nl Submuceuze schisis van zachte en harde verhemelte CANDIDATE +en Submucous cleft palate HP:5201016 rdfs:label nl Submuceus gespleten gehemelte OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Submucous cleft soft palate HP:0011819 rdfs:label nl Submuceus gespleten zacht gehemelte CANDIDATE +en Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 HP:0001249 IAO:0000115 nl Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70 NOT_TRANSLATED +en Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis HP:0045088 IAO:0000115 nl Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis NOT_TRANSLATED +en Subperiosteal bone formation HP:0031485 rdfs:label nl Subperiosteale bot formatie CANDIDATE +en Subperiosteal bone resorption HP:0003106 rdfs:label nl Subperiostale bot resorptie CANDIDATE +en Subpleural curvilinear line HP:0033702 rdfs:label nl Subpleural curvilinear line NOT_TRANSLATED +en Subpleural honeycombing HP:0031631 rdfs:label nl Subpleural honeycombing NOT_TRANSLATED +en Subpleural interstitial thickening HP:0025178 rdfs:label nl Subpleurale interstitiële verdikking CANDIDATE +en Subpulmonary stenosis HP:0034348 rdfs:label nl Subpulmonary stenosis NOT_TRANSLATED +en Subretinal deposits HP:0031528 rdfs:label nl Subretinale deposities CANDIDATE +en Subretinal exudate HP:0011532 rdfs:label nl Subretinaal exsudaat CANDIDATE +en Subretinal fluid HP:0031526 rdfs:label nl Subretinaal vocht CANDIDATE +en Subretinal hemorrhage HP:0025243 rdfs:label nl Subretinale bloeding CANDIDATE +en Subretinal hyporeflective spaces on macular OCT HP:0030624 rdfs:label nl Subretinale hyporeflectieve ruimtes op macula OCT CANDIDATE +en Subretinal pigment epithelium hemorrhage HP:0025244 rdfs:label nl Subretinaal pigment epitheel bloeding CANDIDATE +en Subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548 rdfs:label nl Subsarcoplasmatische van afwijkend gevormde mitochondriën CANDIDATE +en Subsolid pulmonary nodule HP:0033610 rdfs:label nl Subsolid pulmonary nodule NOT_TRANSLATED +en Substantia nigra gliosis HP:0011960 rdfs:label nl Substantia nigra gliose CANDIDATE +en Substantia nigra hypointensity on susceptibility-weighted imaging HP:0033048 rdfs:label nl Substantia nigra hypointensity on susceptibility-weighted imaging NOT_TRANSLATED +en Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition HP:0006518 IAO:0000115 nl Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition NOT_TRANSLATED +en Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open) HP:0033866 IAO:0000115 nl Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open) NOT_TRANSLATED +en Substantially shortened length of the small intestine as a result of a developmental defect HP:0030889 IAO:0000115 nl Substantially shortened length of the small intestine as a result of a developmental defect NOT_TRANSLATED +en Subtentorial periventricular white matter hyperdensity HP:0025192 rdfs:label nl Subtentoriële periventriculaire witte stof hyperdensiteit CANDIDATE +en Subungual fibromas HP:0009724 rdfs:label nl Subunguale fibromen CANDIDATE +en Subungual hyperkeratosis HP:0008392 rdfs:label nl Subunguale hyperkeratose CANDIDATE +en Subungual hyperkeratotic fragments HP:0008410 rdfs:label nl Subunguale hyperkeratotische fragmenten CANDIDATE +en Subvalvular aortic stenosis HP:0001682 rdfs:label nl Subaortische stenose CANDIDATE +en Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency HP:0005174 IAO:0000115 nl Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency NOT_TRANSLATED +en Suck reflex HP:0030906 rdfs:label nl Zuigreflex CANDIDATE +en Sudanophilic leukodystrophy HP:0003269 rdfs:label nl Sudanofiele leukodystrofie CANDIDATE +en Sudden and involuntary contractions of one or more muscles HP:0003394 IAO:0000115 nl Sudden and involuntary contractions of one or more muscles NOT_TRANSLATED +en Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures HP:0003449 IAO:0000115 nl Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures NOT_TRANSLATED +en Sudden and involuntary contractions of one or more muscles brought on by physical exertion HP:0003710 IAO:0000115 nl Sudden and involuntary contractions of one or more muscles brought on by physical exertion NOT_TRANSLATED +en Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion HP:0008991 IAO:0000115 nl Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion NOT_TRANSLATED +en Sudden appearance of disease manifestations over a short period of time HP:0011009 IAO:0000115 nl Sudden appearance of disease manifestations over a short period of time NOT_TRANSLATED +en Sudden breakage of an artery leading to leakage of blood from the circulation HP:0025019 IAO:0000115 nl Sudden breakage of an artery leading to leakage of blood from the circulation NOT_TRANSLATED +en Sudden cardiac death HP:0001645 rdfs:label nl Plotselinge hartdood CANDIDATE +en Sudden death HP:0001699 rdfs:label nl Plotselinge dood CANDIDATE +en Sudden episodic apnea HP:0002882 rdfs:label nl Plotselinge episodische apneus CANDIDATE +en Sudden feelings of warmth that are generally most pronounced over the face, neck and chest HP:0031217 IAO:0000115 nl Sudden feelings of warmth that are generally most pronounced over the face, neck and chest NOT_TRANSLATED +en Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain HP:0001297 IAO:0000115 nl Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain NOT_TRANSLATED +en Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia) HP:0001919 IAO:0000115 nl Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia) NOT_TRANSLATED +en Sudden loss of visual acuity HP:0001117 rdfs:label nl Plotseling verlies van gezichtsscherpte CANDIDATE +en Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35) HP:0012467 IAO:0000115 nl Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35) NOT_TRANSLATED +en Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages HP:0004813 IAO:0000115 nl Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages NOT_TRANSLATED +en Sudden unexpected death in epilepsy HP:0033258 rdfs:label nl Sudden unexpected death in epilepsy NOT_TRANSLATED +en Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death HP:0033258 IAO:0000115 nl Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death NOT_TRANSLATED +en Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges HP:0033053 IAO:0000115 nl Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges NOT_TRANSLATED +en Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face HP:0011468 IAO:0000115 nl Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face NOT_TRANSLATED +en Sudden-onset episode of abnormal, involuntary eye movements HP:0007704 IAO:0000115 nl Sudden-onset episode of abnormal, involuntary eye movements NOT_TRANSLATED +en Suicidal ideation HP:0031589 rdfs:label nl Suïcidale gedachten CANDIDATE +en Sulfite oxidase deficiency HP:0003643 rdfs:label nl Sulfiet oxidase deficiëntie CANDIDATE +en Sulfocysteinuria HP:0032350 rdfs:label nl Sulfocysteinuria NOT_TRANSLATED +en Sunken cheeks HP:0009938 rdfs:label nl Diepliggende wangen CANDIDATE +en Super-refractory status epilepticus HP:0032868 rdfs:label nl Super-refractory status epilepticus NOT_TRANSLATED +en Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent HP:0032868 IAO:0000115 nl Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent NOT_TRANSLATED +en Superficial dermal perivascular inflammatory infiltrate HP:0031190 rdfs:label nl Superficieel dermaal perivasculair ontstekingsinfiltraat CANDIDATE +en Superficial episcleral hyperemia HP:0025339 rdfs:label nl Superficiële episclerale hyperemie CANDIDATE +en Superficial spreading melanoma HP:0012057 rdfs:label nl Superficieel verspreidend melanoom CANDIDATE +en Superficial thrombophlebitis HP:0002638 rdfs:label nl Oppervlakkige tromboflebitis CANDIDATE +en Superior cerebellar dysplasia HP:0020185 rdfs:label nl Superior cerebellar dysplasia NOT_TRANSLATED +en Superior crossed-fused renal ectopia HP:0034235 rdfs:label nl Superior crossed-fused renal ectopia NOT_TRANSLATED +en Superior lens subluxation HP:0008019 rdfs:label nl Superior lens subluxation NOT_TRANSLATED +en Superior margin of the scrotum superior to the base of the penis HP:0000049 IAO:0000115 nl Superior margin of the scrotum superior to the base of the penis NOT_TRANSLATED +en Superior mediastinal mass HP:0033825 rdfs:label nl Superior mediastinal mass NOT_TRANSLATED +en Superior oblique muscle overaction HP:0025594 rdfs:label nl Musculus obliquus superior overbelasting CANDIDATE +en Superior oblique muscle restriction HP:0025593 rdfs:label nl Musculus obliquus superior spierbeperking CANDIDATE +en Superior oblique muscle underaction HP:0025595 rdfs:label nl Musculus obliquus superior onderbelasting CANDIDATE +en Superior oblique muscle weakness HP:0025592 rdfs:label nl Spierzwakte van de musculus obliquus superior CANDIDATE +en Superior pectus carinatum HP:0000917 rdfs:label nl Superieur pectus carinatum CANDIDATE +en Superior rectus atrophy HP:0012242 rdfs:label nl Atrofie van de musculus rectus superior bulbi CANDIDATE +en Superior rectus muscle overaction HP:0031745 rdfs:label nl Musculus rectus superior bulbi overbelasting CANDIDATE +en Superior rectus muscle restriction HP:0031746 rdfs:label nl Musculus rectus superior bulbi spierbeperking CANDIDATE +en Superior rectus muscle underaction HP:0031747 rdfs:label nl Musculus rectus superior bulbi onderbelasting CANDIDATE +en Superior rectus muscle weakness HP:0031744 rdfs:label nl Spierzwakte van de musculus rectus superior bulbi CANDIDATE +en Superior rib anomalies HP:0005820 rdfs:label nl Superior rib anomalies NOT_TRANSLATED +en Superior-inferior ventricles without criss-cross atrioventricular valves HP:0011543 rdfs:label nl Superior-inferior ventricles without criss-cross atrioventricular valves NOT_TRANSLATED +en Superiorly displaced ears HP:0008541 rdfs:label nl Superiorly displaced ears NOT_TRANSLATED +en Superiorly positioned umbilicus HP:0032511 rdfs:label nl Superiorly positioned umbilicus NOT_TRANSLATED +en Supernormal dark-adapted bright flash electroretinogram b-wave HP:0030484 rdfs:label nl Supernormal dark-adapted bright flash electroretinogram b-wave NOT_TRANSLATED +en Supernumerary bones of the axial skeleton HP:0009144 rdfs:label nl Extra botten van het axiale skelet CANDIDATE +en Supernumerary clitoris HP:0030912 IAO:0000115 nl Supernumerary clitoris NOT_TRANSLATED +en Supernumerary cusp HP:0033777 rdfs:label nl Supernumerary cusp NOT_TRANSLATED +en Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits HP:0001177 IAO:0000115 nl Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits NOT_TRANSLATED +en Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger) HP:0001162 IAO:0000115 nl Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger) NOT_TRANSLATED +en Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal HP:0005696 IAO:0000115 nl Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal NOT_TRANSLATED +en Supernumerary maxillary incisor HP:0006332 rdfs:label nl Extra maxillaire snijtand CANDIDATE +en Supernumerary metacarpal bones HP:0005917 rdfs:label nl Extra metacarpale botten CANDIDATE +en Supernumerary naris HP:0009934 rdfs:label nl Extra neusgat CANDIDATE +en Supernumerary nipple HP:0002558 rdfs:label nl Extra tepel CANDIDATE +en Supernumerary pulmonary fissure HP:0032994 rdfs:label nl Supernumerary pulmonary fissure NOT_TRANSLATED +en Supernumerary ribs HP:0005815 rdfs:label nl Extra ribben CANDIDATE +en Supernumerary ridge or crus of the ear arising from the antihelix HP:0011235 IAO:0000115 nl Supernumerary ridge or crus of the ear arising from the antihelix NOT_TRANSLATED +en Supernumerary spleens HP:0009799 rdfs:label nl Extra milten CANDIDATE +en Supernumerary testes HP:0010470 rdfs:label nl Extra testes CANDIDATE +en Supernumerary tooth HP:0011069 rdfs:label nl Verhoogd aantal tanden CANDIDATE +en Supernumerary tracheal bronchus HP:0033617 rdfs:label nl Supernumerary tracheal bronchus NOT_TRANSLATED +en Supernumerary vertebrae HP:0002946 rdfs:label nl Extra vertebrae CANDIDATE +en Supernumerary vertebral ossification centers HP:0004598 rdfs:label nl Extra centra van vertebrale ossificatie CANDIDATE +en Suppurative cholangitis HP:0030987 rdfs:label nl Suppuratieve cholangitis CANDIDATE +en Supraauricular pit HP:0008606 rdfs:label nl Supraauricular pit NOT_TRANSLATED +en Suprabasal cleavage HP:0034194 rdfs:label nl Suprabasal cleavage NOT_TRANSLATED +en Supracardiac total anomalous pulmonary venous connection HP:0011719 rdfs:label nl Supracardiac total anomalous pulmonary venous connection NOT_TRANSLATED +en Supraglottic hemangioma HP:0410265 rdfs:label nl Supraglottic hemangioma NOT_TRANSLATED +en Supramitral ring HP:0011572 rdfs:label nl Supramitral ring NOT_TRANSLATED +en Supranuclear gaze palsy HP:0000605 rdfs:label nl Supranucleaire blikparese CANDIDATE +en Supranuclear ophthalmoplegia HP:0000623 rdfs:label nl Supranucleaire oftalmoplegie CANDIDATE +en Suprasellar arachnoid cyst HP:0012489 rdfs:label nl Suprasellaire arachnoïdale cyste CANDIDATE +en Supratentorial neoplasm HP:0030693 rdfs:label nl Supratentorieel neoplasma CANDIDATE +en Supraumbilical raphe HP:0410276 rdfs:label nl Supraumbilical raphe NOT_TRANSLATED +en Supravalvar pulmonary stenosis HP:0034349 rdfs:label nl Supravalvar pulmonary stenosis NOT_TRANSLATED +en Supravalvular aortic stenosis HP:0004381 rdfs:label nl Supravalvulaire aorta stenose CANDIDATE +en Supraventricular arrhythmia HP:0005115 rdfs:label nl Supraventriculaire aritmie CANDIDATE +en Supraventricular tachycardia HP:0004755 rdfs:label nl Supraventriculaire tachycardie CANDIDATE +en Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles HP:0004755 IAO:0000115 nl Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles NOT_TRANSLATED +en Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism HP:0011688 IAO:0000115 nl Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism NOT_TRANSLATED +en Supraventricular tachycardia with a concealed accessory connection HP:0011689 rdfs:label nl Supraventricular tachycardia with a concealed accessory connection NOT_TRANSLATED +en Supraventricular tachycardia with a concealed accessory pathway on the left free wall HP:0011691 rdfs:label nl Supraventricular tachycardia with a concealed accessory pathway on the left free wall NOT_TRANSLATED +en Supraventricular tachycardia with a concealed accessory pathway on the right free wall HP:0011692 rdfs:label nl Supraventricular tachycardia with a concealed accessory pathway on the right free wall NOT_TRANSLATED +en Supraventricular tachycardia with a concealed accessory pathway on the septum HP:0011693 rdfs:label nl Supraventricular tachycardia with a concealed accessory pathway on the septum NOT_TRANSLATED +en Supraventricular tachycardia with a manifest accessory pathway HP:0011694 rdfs:label nl Supraventricular tachycardia with a manifest accessory pathway NOT_TRANSLATED +en Supraventricular tachycardia with a manifest accessory pathway on the left free wall HP:0011696 rdfs:label nl Supraventricular tachycardia with a manifest accessory pathway on the left free wall NOT_TRANSLATED +en Supraventricular tachycardia with a manifest accessory pathway on the right free wall HP:0011697 rdfs:label nl Supraventricular tachycardia with a manifest accessory pathway on the right free wall NOT_TRANSLATED +en Supraventricular tachycardia with a manifest accessory pathway on the septum HP:0011698 rdfs:label nl Supraventricular tachycardia with a manifest accessory pathway on the septum NOT_TRANSLATED +en Supraventricular tachycardia with an accessory connection mediated pathway HP:0011688 rdfs:label nl Supraventricular tachycardia with an accessory connection mediated pathway NOT_TRANSLATED +en Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm HP:0011689 IAO:0000115 nl Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm NOT_TRANSLATED +en Sural nerve atrophy HP:0032145 rdfs:label nl Sural nerve atrophy NOT_TRANSLATED +en Susceptibility to chickenpox HP:0005360 rdfs:label nl Gevoeligheid voor waterpokken CANDIDATE +en Susceptibility to coronavirus 229e HP:0005396 rdfs:label nl Gevoeligheid voor coronavirus 229e CANDIDATE +en Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body HP:0001304 IAO:0000115 nl Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body NOT_TRANSLATED +en Sutural cataract HP:0010695 rdfs:label nl Suturaal cataract CANDIDATE +en Swan neck-like deformities of the fingers HP:0006150 rdfs:label nl Zwanenhalsvingers CANDIDATE +en Sweating provoked by cold temperature rather than by heat HP:0025278 IAO:0000115 nl Sweating provoked by cold temperature rather than by heat NOT_TRANSLATED +en Sweet craving HP:0030221 rdfs:label nl Zoet craving CANDIDATE +en Swelling (edema) of the retinal nerve fibers HP:0020120 IAO:0000115 nl Swelling (edema) of the retinal nerve fibers NOT_TRANSLATED +en Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum HP:0030915 IAO:0000115 nl Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum NOT_TRANSLATED +en Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes HP:0100721 IAO:0000115 nl Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes NOT_TRANSLATED +en Swelling of proximal interphalangeal joints HP:0006253 rdfs:label nl Zwelling van proximale interfalangeale gewrichten CANDIDATE +en Swelling of the chorionic villi owing to fluid accumulation HP:0033043 IAO:0000115 nl Swelling of the chorionic villi owing to fluid accumulation NOT_TRANSLATED +en Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base) HP:0031092 IAO:0000115 nl Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base) NOT_TRANSLATED +en Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62 HP:0033193 IAO:0000115 nl Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62 NOT_TRANSLATED +en Swelling of the margin of the cornea overlapped by the sclera HP:0025349 IAO:0000115 nl Swelling of the margin of the cornea overlapped by the sclera NOT_TRANSLATED +en Swelling related to fluid accumulation within the palate HP:0031089 IAO:0000115 nl Swelling related to fluid accumulation within the palate NOT_TRANSLATED +en Swelling within the basal ganglia due to the accumulation of fluid HP:0025039 IAO:0000115 nl Swelling within the basal ganglia due to the accumulation of fluid NOT_TRANSLATED +en Swelling within the thalamus due to the accumulation of fluid HP:0025040 IAO:0000115 nl Swelling within the thalamus due to the accumulation of fluid NOT_TRANSLATED +en Swiss cheese atrial septal defect HP:0031017 rdfs:label nl Swiss cheese atrial septal defect NOT_TRANSLATED +en Swollen lip HP:0031244 rdfs:label nl Gezwollen lip CANDIDATE +en Sydney crease HP:0011311 rdfs:label nl Sydney lijn CANDIDATE +en Symblepharon HP:0430007 rdfs:label nl Symblepharon CANDIDATE +en Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter HP:0032410 IAO:0000115 nl Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter NOT_TRANSLATED +en Symmetric great toe depigmentation HP:0200015 rdfs:label nl Symmetrische grote teen depigmentatie CANDIDATE +en Symmetric lesions of the basal ganglia HP:0007039 rdfs:label nl Symmetrische leasies van basale ganglia CANDIDATE +en Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs HP:0032839 IAO:0000115 nl Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs NOT_TRANSLATED +en Symmetric peripheral demyelination HP:0007262 rdfs:label nl Symmetrische perifere demyelinisatie CANDIDATE +en Symmetric polyarthritis HP:0040311 rdfs:label nl Symmetrische distale artritis CANDIDATE +en Symmetric spinal nerve root neurofibromas HP:0006851 rdfs:label nl Symmetrische spinale zenuwwortel neurofibromen CANDIDATE +en Symmetrical progressive peripheral demyelination HP:0006873 rdfs:label nl Symmetrische progressieve perifere demyelinisatie CANDIDATE +en Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk HP:0550003 IAO:0000115 nl Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk NOT_TRANSLATED +en Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions HP:0100837 IAO:0000115 nl Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions NOT_TRANSLATED +en Symmetrical, blotchy, brownish facial pigmentation HP:0025272 IAO:0000115 nl Symmetrical, blotchy, brownish facial pigmentation NOT_TRANSLATED +en Symphalangism affecting the distal phalanges of the toes HP:0010191 rdfs:label nl Symfalangisme van de distale teenfalangen CANDIDATE +en Symphalangism affecting the distal phalanx of the 2nd toe HP:0010419 rdfs:label nl Symfalangisme van de distale falanx van de 2e teen CANDIDATE +en Symphalangism affecting the distal phalanx of the 3rd toe HP:0100476 rdfs:label nl Symfalangisme van de distale falanx van de 3e teen CANDIDATE +en Symphalangism affecting the distal phalanx of the 4th toe HP:0100477 rdfs:label nl Symfalangisme van de distale falanx van de 4e teen CANDIDATE +en Symphalangism affecting the distal phalanx of the 5th toe HP:0100478 rdfs:label nl Symfalangisme van de distale falanx van de 5e teen CANDIDATE +en Symphalangism affecting the distal phalanx of the hallux HP:0010082 rdfs:label nl Symfalangisme van de distale falanx van de hallux CANDIDATE +en Symphalangism affecting the middle phalanges of the toes HP:0010200 rdfs:label nl Symfalangisme van de middelste teenfalangen CANDIDATE +en Symphalangism affecting the middle phalanx of the 2nd toe HP:0010410 rdfs:label nl Symfalangisme van de middelste falanx van de 2e teen CANDIDATE +en Symphalangism affecting the middle phalanx of the 3rd toe HP:0100470 rdfs:label nl Symfalangisme van de middelste falanx van de 3e teen CANDIDATE +en Symphalangism affecting the middle phalanx of the 4th toe HP:0100471 rdfs:label nl Symfalangisme van de middelste falanx van de 4e teen CANDIDATE +en Symphalangism affecting the middle phalanx of the 5th toe HP:0100472 rdfs:label nl Symfalangisme van de middelste falanx van de 5e teen CANDIDATE +en Symphalangism affecting the phalanges of the 3rd toe HP:0010365 rdfs:label nl Symfalangisme van de falangen van de 3e teen CANDIDATE +en Symphalangism affecting the phalanges of the 4th toe HP:0010377 rdfs:label nl Symfalangisme van de falangen van de 4e teen CANDIDATE +en Symphalangism affecting the phalanges of the 5th toe HP:0010389 rdfs:label nl Symfalangisme van de falangen van de 5e teen CANDIDATE +en Symphalangism affecting the phalanges of the hallux HP:0010064 rdfs:label nl Symfalangisme van de falangen van de hallux CANDIDATE +en Symphalangism affecting the phalanges of the hand HP:0009773 rdfs:label nl Symfalangisme van de falangen van de hand CANDIDATE +en Symphalangism affecting the phalanges of the toes HP:0010179 rdfs:label nl Symfalangisme van de teenfalangen CANDIDATE +en Symphalangism affecting the proximal phalanges of the hand HP:0009857 rdfs:label nl Symfalangisme van de proximale falangen van hand CANDIDATE +en Symphalangism affecting the proximal phalanges of the toes HP:0010209 rdfs:label nl Symfalangisme van de proximale falangen van tenen CANDIDATE +en Symphalangism affecting the proximal phalanx of the 2nd finger HP:0009586 rdfs:label nl Symfalangisme van de proximale falanx van de 2e vinger CANDIDATE +en Symphalangism affecting the proximal phalanx of the 2nd toe HP:0010401 rdfs:label nl Symfalangisme van de proximale falanx van de 2e teen CANDIDATE +en Symphalangism affecting the proximal phalanx of the 3rd finger HP:0009455 rdfs:label nl Symfalangisme van de proximale falanx van de 3e vinger CANDIDATE +en Symphalangism affecting the proximal phalanx of the 3rd toe HP:0100473 rdfs:label nl Symfalangisme van de proximale falanx van de 3e teen CANDIDATE +en Symphalangism affecting the proximal phalanx of the 4th finger HP:0009314 rdfs:label nl Symfalangisme van de proximale falanx van de 4e vinger CANDIDATE +en Symphalangism affecting the proximal phalanx of the 4th toe HP:0100474 rdfs:label nl Symfalangisme van de proximale falanx van de 4e teen CANDIDATE +en Symphalangism affecting the proximal phalanx of the 5th finger HP:0009232 rdfs:label nl Symfalangisme van de proximale falanx van de 5e vinger CANDIDATE +en Symphalangism affecting the proximal phalanx of the 5th toe HP:0100475 rdfs:label nl Symfalangisme van de proximale falanx van de 5e teen CANDIDATE +en Symphalangism affecting the proximal phalanx of the hallux HP:0010091 rdfs:label nl Symfalangisme van de proximale falanx van de hallux CANDIDATE +en Symphalangism of middle phalanx of 2nd finger HP:0009574 rdfs:label nl Symfalangisme van middelste falanx van 2e vinger CANDIDATE +en Symphalangism of middle phalanx of 3rd finger HP:0009435 rdfs:label nl Symfalangisme van middelste falanx van 3e vinger CANDIDATE +en Symphalangism of middle phalanx of 4th finger HP:0009308 rdfs:label nl Symfalangisme van middelste falanx van 4e vinger CANDIDATE +en Symphalangism of middle phalanx of 5th finger HP:0009178 rdfs:label nl Symfalangisme van middelste falanx van 5e vinger CANDIDATE +en Symphalangism of middle phalanx of finger HP:0009849 rdfs:label nl Symfalangisme van middelste falanx van vinger CANDIDATE +en Symphalangism of the 2nd finger HP:0009545 rdfs:label nl Symfalangisme van de 2e vinger CANDIDATE +en Symphalangism of the 3rd finger HP:0009445 rdfs:label nl Symfalangisme van de 3e vinger CANDIDATE +en Symphalangism of the 4th finger HP:0004197 rdfs:label nl Symfalangisme van de 4e vinger CANDIDATE +en Symphalangism of the 5th finger HP:0004218 rdfs:label nl Symfalangisme van de 5e vinger CANDIDATE +en Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal HP:0009598 rdfs:label nl Symfalangisme van de proximale falanx van de 2e vinger met de 2e metacarpaal CANDIDATE +en Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal HP:0100483 rdfs:label nl Symfalangisme van de proximale falanx van de 2e teen met de 2e metatarsaal CANDIDATE +en Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal HP:0009483 rdfs:label nl Symfalangisme van de proximale falanx van de 3e vinger met de 3e metacarpaal CANDIDATE +en Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal HP:0100484 rdfs:label nl Symfalangisme van de proximale falanx van de 3e teen met de 3e metatarsaal CANDIDATE +en Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal HP:0009478 rdfs:label nl Symfalangisme van de proximale falanx van de 4e vinger met de 4e metacarpaal CANDIDATE +en Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal HP:0100485 rdfs:label nl Symfalangisme van de proximale falanx van de 4e teen met de 4e metatarsaal CANDIDATE +en Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal HP:0009234 rdfs:label nl Symfalangisme van de proximale falanx van de 5e vinger met de 5e metacarpaal CANDIDATE +en Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal HP:0100486 rdfs:label nl Symfalangisme van de proximale falanx van de 5e teen met de 5e metatarsaal CANDIDATE +en Symphalangism of the thumb HP:0009656 rdfs:label nl Symfalangisme van de duim CANDIDATE +en Symptomatic seizures HP:0011145 rdfs:label nl Symptomatische insulten CANDIDATE +en Syncope HP:0001279 rdfs:label nl Syncope CANDIDATE +en Syncope following a quick change in position from lying down to standing HP:0012670 IAO:0000115 nl Syncope following a quick change in position from lying down to standing NOT_TRANSLATED +en Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow HP:0001279 IAO:0000115 nl Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow NOT_TRANSLATED +en Syndactyly HP:0001159 rdfs:label nl Syndactylie CANDIDATE +en Syndactyly with fusion of fingers four and five HP:0010705 IAO:0000115 nl Syndactyly with fusion of fingers four and five NOT_TRANSLATED +en Syndactyly with fusion of fingers one and two HP:0010704 IAO:0000115 nl Syndactyly with fusion of fingers one and two NOT_TRANSLATED +en Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand) HP:0010708 IAO:0000115 nl Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand) NOT_TRANSLATED +en Syndactyly with fusion of fingers one to four HP:0010707 IAO:0000115 nl Syndactyly with fusion of fingers one to four NOT_TRANSLATED +en Syndactyly with fusion of fingers one to three HP:0010706 IAO:0000115 nl Syndactyly with fusion of fingers one to three NOT_TRANSLATED +en Syndactyly with fusion of fingers three and four HP:0006097 IAO:0000115 nl Syndactyly with fusion of fingers three and four NOT_TRANSLATED +en Syndactyly with fusion of fingers three to five HP:0010710 IAO:0000115 nl Syndactyly with fusion of fingers three to five NOT_TRANSLATED +en Syndactyly with fusion of fingers two and three HP:0001233 IAO:0000115 nl Syndactyly with fusion of fingers two and three NOT_TRANSLATED +en Syndactyly with fusion of fingers two to five HP:0010692 IAO:0000115 nl Syndactyly with fusion of fingers two to five NOT_TRANSLATED +en Syndactyly with fusion of the fingers two to four HP:0010709 IAO:0000115 nl Syndactyly with fusion of the fingers two to four NOT_TRANSLATED +en Syndactyly with fusion of toes four and five HP:0004692 IAO:0000115 nl Syndactyly with fusion of toes four and five NOT_TRANSLATED +en Syndactyly with fusion of toes one and two HP:0010711 IAO:0000115 nl Syndactyly with fusion of toes one and two NOT_TRANSLATED +en Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot) HP:0010713 IAO:0000115 nl Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot) NOT_TRANSLATED +en Syndactyly with fusion of toes one to four HP:0010712 IAO:0000115 nl Syndactyly with fusion of toes one to four NOT_TRANSLATED +en Syndactyly with fusion of toes one to three HP:0001459 IAO:0000115 nl Syndactyly with fusion of toes one to three NOT_TRANSLATED +en Syndactyly with fusion of toes three and four HP:0009779 IAO:0000115 nl Syndactyly with fusion of toes three and four NOT_TRANSLATED +en Syndactyly with fusion of toes three to five HP:0010716 IAO:0000115 nl Syndactyly with fusion of toes three to five NOT_TRANSLATED +en Syndactyly with fusion of toes two and three HP:0004691 IAO:0000115 nl Syndactyly with fusion of toes two and three NOT_TRANSLATED +en Syndactyly with fusion of toes two to five HP:0010715 IAO:0000115 nl Syndactyly with fusion of toes two to five NOT_TRANSLATED +en Syndactyly with fusion of toes two to four HP:0010714 IAO:0000115 nl Syndactyly with fusion of toes two to four NOT_TRANSLATED +en Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline HP:0033588 IAO:0000115 nl Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline NOT_TRANSLATED +en Synkinesis HP:0034980 rdfs:label nl Synkinesise OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Synophrys HP:0000664 rdfs:label nl Synophrys CANDIDATE +en Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform) HP:0009702 IAO:0000115 nl Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform) NOT_TRANSLATED +en Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones) HP:0008368 IAO:0000115 nl Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones) NOT_TRANSLATED +en Synostosis affecting only one of the coronal sutures HP:0011315 IAO:0000115 nl Synostosis affecting only one of the coronal sutures NOT_TRANSLATED +en Synostosis affecting only the left coronal suture HP:0011316 IAO:0000115 nl Synostosis affecting only the left coronal suture NOT_TRANSLATED +en Synostosis affecting the right and the left coronal suture HP:0011318 IAO:0000115 nl Synostosis affecting the right and the left coronal suture NOT_TRANSLATED +en Synostosis involving bones of the feet HP:0009140 rdfs:label nl Synostose waarbij de botten van de voeten betrokken zijn CANDIDATE +en Synostosis involving bones of the hand HP:0004278 rdfs:label nl Synostose waarbij de botten van de voeten betrokken zijn CANDIDATE +en Synostosis involving bones of the lower limbs HP:0009138 rdfs:label nl Synostose waarbij de botten van de onderste ledematen betrokken zijn CANDIDATE +en Synostosis involving bones of the toes HP:0100235 rdfs:label nl Synostose waarbij de botten van de tenen betrokken zijn CANDIDATE +en Synostosis involving bones of the upper limbs HP:0100238 rdfs:label nl Synostose van de botten van de bovenste ledematen CANDIDATE +en Synostosis involving digits HP:0100262 rdfs:label nl Synostose waarbij vingers betrokken zijn CANDIDATE +en Synostosis involving the 1st metacarpal HP:0009703 rdfs:label nl Synostose waarbij de 1e metacarpaal betrokken is CANDIDATE +en Synostosis involving the 1st metatarsal HP:0010073 rdfs:label nl Synostose waarbij de 1e metatarsaal betrokken is CANDIDATE +en Synostosis involving the 2nd metacarpal HP:0009705 rdfs:label nl Synostose waarbij de 2e metacarpaal betrokken is CANDIDATE +en Synostosis involving the 3rd metacarpal HP:0009706 rdfs:label nl Synostose waarbij de 3e metacarpaal betrokken is CANDIDATE +en Synostosis involving the 4th metacarpal HP:0009707 rdfs:label nl Synostose waarbij de 4e metacarpaal betrokken is CANDIDATE +en Synostosis involving the 5th metacarpal HP:0009708 rdfs:label nl Synostose waarbij de 5e metacarpaal betrokken is CANDIDATE +en Synostosis involving the elbow HP:0003938 rdfs:label nl Synostose waarbij de elleboog betrokken is CANDIDATE +en Synostosis involving the fibula HP:0005928 rdfs:label nl Synostose waarbij de fibula betrokken is CANDIDATE +en Synostosis involving the tibia HP:0005929 rdfs:label nl Synostose waarbij de tibia betrokken is CANDIDATE +en Synostosis of carpal bones HP:0005048 rdfs:label nl Synostose van de carpalia CANDIDATE +en Synostosis of carpals/tarsals HP:0100266 rdfs:label nl Synostose van de carpalia/tarsalen CANDIDATE +en Synostosis of joints HP:0100240 rdfs:label nl Synostose van de gewrichten CANDIDATE +en Synostosis of metacarpals/metatarsals HP:0100265 rdfs:label nl Synostose van de metacarpalen/metatarsalen CANDIDATE +en Synostosis of second metacarpal-trapezoid HP:0004293 rdfs:label nl Synostose van tweede metacarpaal-os trapezium CANDIDATE +en Synostosis of the calcaneus with the navicular bone HP:0008122 IAO:0000115 nl Synostosis of the calcaneus with the navicular bone NOT_TRANSLATED +en Synostosis of the proximal phalanx of the hallux with the 1st metatarsal HP:0100488 rdfs:label nl Synostose van de proximale falanx van de hallux met de 1e metatarsaal CANDIDATE +en Synostosis of the proximal phalanx of the thumb with the 1st metacarpal HP:0009640 rdfs:label nl Synostose van de proximale falanx van de duim met de 1e metacarpaal CANDIDATE +en Synostosis of thumb phalanx HP:0009635 rdfs:label nl Synose van duim falanx CANDIDATE +en Synotia HP:0100663 rdfs:label nl Synotie CANDIDATE +en Synovial chondromatosis of the elbow HP:0003942 rdfs:label nl Synoviale chondromatose van de elleboog CANDIDATE +en Synovial hypertrophy HP:0005186 rdfs:label nl Synoviale hypertrofie CANDIDATE +en Synovial sarcoma HP:0012570 rdfs:label nl Synoviaal sarcoom CANDIDATE +en Synovitis HP:0100769 rdfs:label nl Synovitis CANDIDATE +en Syntelencephaly HP:0025670 rdfs:label nl Syntelencephaly NOT_TRANSLATED +en Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions HP:0025670 IAO:0000115 nl Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions NOT_TRANSLATED +en Syringomyelia HP:0003396 rdfs:label nl Syringomyelie CANDIDATE +en Systemic autoinflammation HP:0033428 rdfs:label nl Systemic autoinflammation NOT_TRANSLATED +en Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course HP:0011726 IAO:0000115 nl Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course NOT_TRANSLATED +en Systemic inflammatory response to infection HP:0100806 IAO:0000115 nl Systemic inflammatory response to infection NOT_TRANSLATED +en Systemic inflammatory response to infection in newborn babies HP:0040187 IAO:0000115 nl Systemic inflammatory response to infection in newborn babies NOT_TRANSLATED +en Systemic lupus erythematosus HP:0002725 rdfs:label nl Systemische lupus erythematosus CANDIDATE +en Systolic anterior motion of the mitral valve HP:0031656 rdfs:label nl Systolic anterior motion of the mitral valve NOT_TRANSLATED +en Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole HP:0031656 IAO:0000115 nl Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole NOT_TRANSLATED +en Systolic heart murmur HP:0031664 rdfs:label nl Systolische souffle CANDIDATE +en T cell chronic lymphocytic lymphoma/leukemia HP:0005539 rdfs:label nl T-cel chronische lymfocytaire lymfoom/leukemie CANDIDATE +en T lymphocytopenia HP:0005403 rdfs:label nl Afname van T cellen CANDIDATE +en T-cell acute lymphoblastic leukemias HP:0006727 rdfs:label nl T-cel acute lymfatische leukemie CANDIDATE +en T-cell lymphoma HP:0012190 rdfs:label nl T-cell lymfoom CANDIDATE +en T-cell lymphoma/leukemia HP:0005517 rdfs:label nl T-cel lymfoom/leukemie CANDIDATE +en T-shaped uterus HP:0031106 rdfs:label nl T-vormige uterus CANDIDATE +en T-wave alternans HP:0012266 rdfs:label nl T-wave alternans NOT_TRANSLATED +en T-wave inversion HP:0010872 rdfs:label nl Inversie van de T-golf CANDIDATE +en T-wave inversion in the right precordial leads HP:0003140 rdfs:label nl T-golf inversie in de rechter precardiale afleidingen CANDIDATE +en T2 hypointense basal ganglia HP:0012753 rdfs:label nl T2 hypointense basale ganglia CANDIDATE +en T2 hypointense brainstem HP:0012750 rdfs:label nl T2 hypointense hersenstam CANDIDATE +en T2 hypointense thalamus HP:0012690 rdfs:label nl T2 hypointense thalamus CANDIDATE +en Tachycardia HP:0001649 rdfs:label nl Tachycardie CANDIDATE +en Tachylalia HP:0031937 rdfs:label nl Tachylalia NOT_TRANSLATED +en Tachyphrenia HP:0033844 rdfs:label nl Tachyphrenia NOT_TRANSLATED +en Tachypnea HP:0002789 rdfs:label nl Tachypnoe CANDIDATE +en Tactile hallucination HP:0033694 rdfs:label nl Tactile hallucination NOT_TRANSLATED +en Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate HP:4000076 IAO:0000115 nl Taking other people by the hand to places they wish them to move to or taking someone's hand to objects they want them to manipulate NOT_TRANSLATED +en Takotsubo cardiomyopathy HP:0011665 rdfs:label nl Takotsubo cardiomyopathie CANDIDATE +en Talar aplasia HP:0033977 rdfs:label nl Talar aplasia NOT_TRANSLATED +en Talipes HP:0001883 rdfs:label nl Klompvoet CANDIDATE +en Talipes calcaneovalgus HP:0001884 rdfs:label nl Talipes calcaneovalgus CANDIDATE +en Talipes calcaneovarus HP:0008124 rdfs:label nl Talipes calcaneovarus CANDIDATE +en Talipes cavus equinovarus HP:0004696 rdfs:label nl Talipes equinovarus CANDIDATE +en Talipes equinovalgus HP:0001772 rdfs:label nl Talipes equinovalgus CANDIDATE +en Talipes equinovarus HP:0001762 rdfs:label nl Talipes equinovarus CANDIDATE +en Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg HP:0001762 IAO:0000115 nl Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg NOT_TRANSLATED +en Talipes valgus HP:0004684 rdfs:label nl Talipes valgus CANDIDATE +en Tall chin HP:0400000 rdfs:label nl Lange kin CANDIDATE +en Tall head relative to width and length HP:0000262 IAO:0000115 nl Tall head relative to width and length NOT_TRANSLATED +en Tall lumbar vertebral bodies HP:0008421 rdfs:label nl Hoge lumbale wervellichamen CANDIDATE +en Tall stature HP:0000098 rdfs:label nl Lange lengte CANDIDATE +en Talocalcaneal synostosis HP:0005682 rdfs:label nl Talocalcaneale synostose CANDIDATE +en Talon cusp HP:0011087 rdfs:label nl Talon cusp CANDIDATE +en Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown) HP:0011087 IAO:0000115 nl Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown) NOT_TRANSLATED +en Tapered distal phalanges of finger HP:0009884 rdfs:label nl Tapered distal phalanges of finger NOT_TRANSLATED +en Tapered finger HP:0001182 rdfs:label nl Taps toelopende vinger CANDIDATE +en Tapered humerus HP:0003883 rdfs:label nl Tapered humerus NOT_TRANSLATED +en Tapered metacarpals HP:0006108 rdfs:label nl Tapered metacarpals NOT_TRANSLATED +en Tapered phalanx of finger HP:0006192 rdfs:label nl Tapered phalanx of finger NOT_TRANSLATED +en Tapered sperm head HP:0032562 rdfs:label nl Tapered sperm head NOT_TRANSLATED +en Tapered toe HP:0011309 rdfs:label nl Taps toelopende teen CANDIDATE +en Tapered tooth HP:0033781 rdfs:label nl Tapered tooth NOT_TRANSLATED +en Tapering pointed ends of distal finger phalanges HP:0006224 rdfs:label nl Tapering pointed ends of distal finger phalanges NOT_TRANSLATED +en Tapetal-like fundal reflex HP:0025583 rdfs:label nl Tapetal-like fundal reflex NOT_TRANSLATED +en Tardive dyskinesia HP:0040141 rdfs:label nl Tardieve dyskinesie CANDIDATE +en Target cells HP:0034280 rdfs:label nl Target cells NOT_TRANSLATED +en Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target HP:0034280 IAO:0000115 nl Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target NOT_TRANSLATED +en Tarlov cyst HP:0025643 rdfs:label nl Tarlov cyst NOT_TRANSLATED +en Tarsal osteovalgus HP:0001775 rdfs:label nl Tarsale osteovalgus CANDIDATE +en Tarsal sclerosis HP:0031051 rdfs:label nl Tarsale sclerose CANDIDATE +en Tarsal stippling HP:0008131 rdfs:label nl Tarsale vlekkerige calcificatie CANDIDATE +en Tarsal synostosis HP:0008368 rdfs:label nl Tarsale synostose CANDIDATE +en Tarsometatarsal synostosis HP:0100329 rdfs:label nl Tarsometatarsale synostose CANDIDATE +en Taurodontia HP:0000679 rdfs:label nl Taurodontie CANDIDATE +en Tearfulness HP:0033705 rdfs:label nl Tearfulness NOT_TRANSLATED +en Tearing of the aortic wall generally associated with profuse internal bleeding HP:0031649 IAO:0000115 nl Tearing of the aortic wall generally associated with profuse internal bleeding NOT_TRANSLATED +en Tegumentary leishmaniasis susceptibility HP:0007408 rdfs:label nl Gevoeligheid voor tegumentary leishmaniasis CANDIDATE +en Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution HP:0005598 IAO:0000115 nl Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution NOT_TRANSLATED +en Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks HP:0007421 IAO:0000115 nl Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks NOT_TRANSLATED +en Telangiectases (small dilated blood vessels) located near the surface of the skin of the face HP:0007380 IAO:0000115 nl Telangiectases (small dilated blood vessels) located near the surface of the skin of the face NOT_TRANSLATED +en Telangiectases (small dilated blood vessels) located on the skin of sole of foot HP:0100870 IAO:0000115 nl Telangiectases (small dilated blood vessels) located on the skin of sole of foot NOT_TRANSLATED +en Telangiectases (small dilated blood vessels) with a diffuse localization HP:0007489 IAO:0000115 nl Telangiectases (small dilated blood vessels) with a diffuse localization NOT_TRANSLATED +en Telangiectases in the area of the nails HP:0001232 IAO:0000115 nl Telangiectases in the area of the nails NOT_TRANSLATED +en Telangiectases of the cheeks HP:0007421 rdfs:label nl Teleangiëctasieën van de wangen CANDIDATE +en Telangiectases producing 'marbled' skin HP:0007586 rdfs:label nl Telangiectases producing 'marbled' skin NOT_TRANSLATED +en Telangiectasia HP:0001009 rdfs:label nl Teleangiëctasie CANDIDATE +en Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers HP:0006107 IAO:0000115 nl Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers NOT_TRANSLATED +en Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails HP:0025555 IAO:0000115 nl Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails NOT_TRANSLATED +en Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips HP:0000214 IAO:0000115 nl Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips NOT_TRANSLATED +en Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa HP:0007428 IAO:0000115 nl Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa NOT_TRANSLATED +en Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue HP:0000227 IAO:0000115 nl Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue NOT_TRANSLATED +en Telangiectasia affecting the gastrointestinal tract HP:0002604 IAO:0000115 nl Telangiectasia affecting the gastrointestinal tract NOT_TRANSLATED +en Telangiectasia macularis eruptiva perstans HP:0007583 rdfs:label nl Telangiectasia macularis eruptiva perstans CANDIDATE +en Telangiectasia of extensor surfaces HP:0007621 rdfs:label nl Teleangiëctasie van de extensor oppervlakten CANDIDATE +en Telangiectasia of the ear HP:0009893 rdfs:label nl Teleangiëctasie van het oor CANDIDATE +en Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs HP:0100579 IAO:0000115 nl Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs NOT_TRANSLATED +en Telangiectasia of the nasal mucosa HP:0000434 IAO:0000115 nl Telangiectasia of the nasal mucosa NOT_TRANSLATED +en Telangiectasia of the oral mucosa HP:0007428 rdfs:label nl Teleangiëctasie van de orale mucosa CANDIDATE +en Telangiectasia of the skin HP:0100585 rdfs:label nl Teleangiëctasie van de huid CANDIDATE +en Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system HP:0033370 IAO:0000115 nl Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system NOT_TRANSLATED +en Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips HP:0001009 IAO:0000115 nl Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips NOT_TRANSLATED +en Telecanthus HP:0000506 rdfs:label nl Telecanthus CANDIDATE +en Telogen effluvium HP:0025470 rdfs:label nl Telogene effluvium CANDIDATE +en Temper tantrums that occur more frequently than usual HP:0025161 IAO:0000115 nl Temper tantrums that occur more frequently than usual NOT_TRANSLATED +en Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes HP:0025162 IAO:0000115 nl Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes NOT_TRANSLATED +en Temperature instability HP:0005968 rdfs:label nl Temperatuur instabiliteit CANDIDATE +en Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing HP:0031950 IAO:0000115 nl Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing NOT_TRANSLATED +en Temporal artery tortuosity HP:0030165 rdfs:label nl Temporale arterie kronkeligheid CANDIDATE +en Temporal bossing HP:0032569 rdfs:label nl Temporal bossing NOT_TRANSLATED +en Temporal cortical atrophy HP:0007112 rdfs:label nl Temporale corticale atrofie CANDIDATE +en Temporal hypotrichosis HP:0004524 rdfs:label nl Temporale hypotrichose CANDIDATE +en Temporal lobe calcification HP:0034293 rdfs:label nl Temporal lobe calcification NOT_TRANSLATED +en Temporal lobe dysplasia HP:0034222 rdfs:label nl Temporal lobe dysplasia NOT_TRANSLATED +en Temporal lobe megalencephaly HP:0034220 rdfs:label nl Temporal lobe megalencephaly NOT_TRANSLATED +en Temporal optic disc pallor HP:0012511 rdfs:label nl Bleekheid van temporale optische schijf CANDIDATE +en Temporal pattern HP:0011008 rdfs:label nl Temporaal patroon CANDIDATE +en Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa HP:0033584 IAO:0000115 nl Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa NOT_TRANSLATED +en Temporomandibular arthritis HP:0040312 rdfs:label nl Temporo-mandibulaire autosomaal recessief CANDIDATE +en Temporomandibular joint adhesion HP:0032328 rdfs:label nl Temporomandibular joint adhesion NOT_TRANSLATED +en Temporomandibular joint ankylosis HP:0012478 rdfs:label nl Temporo-mandibulaire ankylose CANDIDATE +en Temporomandibular joint crepitus HP:0012479 rdfs:label nl Temporo-mandibulaire gewricht crepitus CANDIDATE +en Tendency for the visual axis of one eye to be higher than that of the other HP:0025585 IAO:0000115 nl Tendency for the visual axis of one eye to be higher than that of the other NOT_TRANSLATED +en Tender HP:0025283 rdfs:label nl Teder CANDIDATE +en Tendon pain HP:0032510 rdfs:label nl Tendon pain NOT_TRANSLATED +en Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal HP:0001348 IAO:0000115 nl Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal NOT_TRANSLATED +en Tendon rupture HP:0100550 rdfs:label nl Peesruptuur CANDIDATE +en Tendon thickening HP:0032523 rdfs:label nl Tendon thickening NOT_TRANSLATED +en Tendon xanthomatosis HP:0010874 rdfs:label nl Pees xanthomatose CANDIDATE +en Tendonitis HP:0025230 rdfs:label nl Tendinitis CANDIDATE +en Tenesmus HP:0012702 rdfs:label nl Tenesmus CANDIDATE +en Tension-type headache HP:0012228 rdfs:label nl Spanningshoofdpijn CANDIDATE +en Tented philtrum HP:0011825 rdfs:label nl Tenten filtrum CANDIDATE +en Tented upper lip vermilion HP:0010804 rdfs:label nl Tented upper lip vermilion NOT_TRANSLATED +en Teratoma HP:0009792 rdfs:label nl Teratoom CANDIDATE +en Terminal broadening of the fingers (distal phalanges of the fingers) HP:0100759 IAO:0000115 nl Terminal broadening of the fingers (distal phalanges of the fingers) NOT_TRANSLATED +en Terminal broadening of the toes (distal phalanges of the toes) HP:0100760 IAO:0000115 nl Terminal broadening of the toes (distal phalanges of the toes) NOT_TRANSLATED +en Terminal insomnia HP:0031356 rdfs:label nl Terminale insomnie CANDIDATE +en Tertiary hyperparathyroidism HP:0011770 rdfs:label nl Tertiaire hyperparathyreoïdie CANDIDATE +en Tessier number 0 facial cleft HP:0031570 rdfs:label nl Aangezichtsspleet Tessier nummer 0 CANDIDATE +en Tessier number 1 facial cleft HP:0031572 rdfs:label nl Aangezichtsspleet Tessier nummer 1 CANDIDATE +en Tessier number 10 facial cleft HP:0031582 rdfs:label nl Aangezichtsspleet Tessier nummer 10 CANDIDATE +en Tessier number 11 facial cleft HP:0031583 rdfs:label nl Aangezichtsspleet Tessier nummer 11 CANDIDATE +en Tessier number 12 facial cleft HP:0031584 rdfs:label nl Aangezichtsspleet Tessier nummer 12 CANDIDATE +en Tessier number 13 facial cleft HP:0031585 rdfs:label nl Aangezichtsspleet Tessier nummer 13 CANDIDATE +en Tessier number 14 facial cleft HP:0031586 rdfs:label nl Aangezichtsspleet Tessier nummer 14 CANDIDATE +en Tessier number 2 facial cleft HP:0031573 rdfs:label nl Aangezichtsspleet Tessier nummer 2 CANDIDATE +en Tessier number 3 facial cleft HP:0031575 rdfs:label nl Aangezichtsspleet Tessier nummer 3 CANDIDATE +en Tessier number 30 facial cleft HP:0031587 rdfs:label nl Aangezichtsspleet Tessier nummer 30 CANDIDATE +en Tessier number 4 facial cleft HP:0031576 rdfs:label nl Aangezichtsspleet Tessier nummer 4 CANDIDATE +en Tessier number 5 facial cleft HP:0031577 rdfs:label nl Aangezichtsspleet Tessier nummer 5 CANDIDATE +en Tessier number 6 facial cleft HP:0031578 rdfs:label nl Aangezichtsspleet Tessier nummer 6 CANDIDATE +en Tessier number 7 facial cleft HP:0031579 rdfs:label nl Aangezichtsspleet Tessier nummer 7 CANDIDATE +en Tessier number 8 facial cleft HP:0031580 rdfs:label nl Aangezichtsspleet Tessier nummer 8 CANDIDATE +en Tessier number 9 facial cleft HP:0031581 rdfs:label nl Aangezichtsspleet Tessier nummer 9 CANDIDATE +en Testicular adrenal rest tumor HP:0025451 rdfs:label nl Testiculaire adrenale rest tumor CANDIDATE +en Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm HP:0025451 IAO:0000115 nl Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm NOT_TRANSLATED +en Testicular atrophy HP:0000029 rdfs:label nl Testiculaire atrofie CANDIDATE +en Testicular dysgenesis HP:0008715 rdfs:label nl Testiculaire dysgenesie CANDIDATE +en Testicular fibrosis HP:0012860 rdfs:label nl Testiculaire fibrose CANDIDATE +en Testicular gonadoblastoma HP:0000030 rdfs:label nl Testiculaire gonadoblastoma CANDIDATE +en Testicular inflammation HP:0100796 IAO:0000115 nl Testicular inflammation NOT_TRANSLATED +en Testicular ischemia HP:0033403 rdfs:label nl Testicular ischemia NOT_TRANSLATED +en Testicular lipomatosis HP:0025476 rdfs:label nl Testiculaire lipomatose CANDIDATE +en Testicular mass HP:0032404 rdfs:label nl Testicular mass NOT_TRANSLATED +en Testicular mesothelioma HP:0100005 rdfs:label nl Testiculair mesothelioom CANDIDATE +en Testicular microlithiasis HP:0012215 rdfs:label nl Testiculaire microlithiasis CANDIDATE +en Testicular neoplasm HP:0010788 rdfs:label nl Testiculair neoplasma CANDIDATE +en Testicular pain HP:0033839 rdfs:label nl Testicular pain NOT_TRANSLATED +en Testicular seminoma HP:0100617 rdfs:label nl Testiculair seminoom CANDIDATE +en Testicular teratoma HP:0100616 rdfs:label nl Testiculair teratoom CANDIDATE +en Testicular torsion HP:0100813 rdfs:label nl Testiculaire torsie CANDIDATE +en Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain HP:0100813 IAO:0000115 nl Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain NOT_TRANSLATED +en Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum HP:0000028 IAO:0000115 nl Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum NOT_TRANSLATED +en Testis not palpable in the scrotum or inguinal canal HP:0010469 IAO:0000115 nl Testis not palpable in the scrotum or inguinal canal NOT_TRANSLATED +en Tetany HP:0001281 rdfs:label nl Tetanie CANDIDATE +en Tethered cord HP:0002144 rdfs:label nl Tethered cord CANDIDATE +en Tetraamelia HP:0003057 rdfs:label nl Tetra-amelie CANDIDATE +en Tetralogy of Fallot HP:0001636 rdfs:label nl Tetralogie van Fallot CANDIDATE +en Tetralogy of Fallot with absent pulmonary valve HP:0011659 rdfs:label nl Tetralogie van Fallot met afwezige pulmonalisklep CANDIDATE +en Tetralogy of Fallot with absent subarterial conus HP:0011676 rdfs:label nl Tetralogie van Fallot met afwezige subarteriële conus CANDIDATE +en Tetralogy of Fallot with atrioventricular canal defect HP:0011677 rdfs:label nl Tetralogie van Fallot met atrioventriculair kanaaldefect CANDIDATE +en Tetralogy of Fallot with pulmonary atresia HP:0012516 rdfs:label nl Tetralogie van Fallot met pulmonale atresie CANDIDATE +en Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries HP:0011678 rdfs:label nl Tetralogie van Fallot met pulmonale atresie en grote aortopulmonale collaterale slagaders CANDIDATE +en Tetralogy of Fallot with pulmonary stenosis HP:0011679 rdfs:label nl Tetralogie van Fallot met pulmonalisstenose CANDIDATE +en Tetraparesis HP:0002273 rdfs:label nl Tetraparese CANDIDATE +en Tetraphocomelia HP:0030721 rdfs:label nl Tetrafocomelie CANDIDATE +en Tetraplegia HP:0002445 rdfs:label nl Tetraplegie CANDIDATE +en Tetraplegia/tetraparesis HP:0030182 rdfs:label nl Tetraplegie/tetraparese CANDIDATE +en Thalamic arteriovenous malformation HP:0031254 rdfs:label nl Thalamus arterioveneuze malformatie CANDIDATE +en Thalamic calcification HP:0025041 rdfs:label nl Thalamus calcificatie CANDIDATE +en Thalamic edema HP:0025040 rdfs:label nl Thalamus oedeem CANDIDATE +en Thalamic hemorrhage HP:0025064 rdfs:label nl Thalamus bloeding CANDIDATE +en Thalamic hypometabolism in FDG PET HP:0012660 rdfs:label nl Thalamus hypometabolisme op FDG-PET CANDIDATE +en The ABO system consists of A and B antigens and antibodies against these antigens HP:0032224 IAO:0000115 nl The ABO system consists of A and B antigens and antibodies against these antigens NOT_TRANSLATED +en The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b- HP:0032373 IAO:0000115 nl The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b- NOT_TRANSLATED +en The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent HP:0030599 IAO:0000115 nl The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent NOT_TRANSLATED +en The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body HP:0025531 IAO:0000115 nl The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body NOT_TRANSLATED +en The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point HP:0012272 IAO:0000115 nl The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point NOT_TRANSLATED +en The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae HP:0034307 IAO:0000115 nl The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae NOT_TRANSLATED +en The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process HP:0030366 IAO:0000115 nl The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process NOT_TRANSLATED +en The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present HP:0033122 IAO:0000115 nl The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present NOT_TRANSLATED +en The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger) HP:0033673 IAO:0000115 nl The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger) NOT_TRANSLATED +en The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes HP:0032988 IAO:0000115 nl The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes NOT_TRANSLATED +en The QRS complexes of the electrocardiogram alternate in height HP:0025078 IAO:0000115 nl The QRS complexes of the electrocardiogram alternate in height NOT_TRANSLATED +en The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve HP:0033672 IAO:0000115 nl The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve NOT_TRANSLATED +en The ability of a joint to move beyond its normal range of motion HP:0001382 IAO:0000115 nl The ability of a joint to move beyond its normal range of motion NOT_TRANSLATED +en The ability of the elbow joint to move beyond its normal range of motion HP:0010485 IAO:0000115 nl The ability of the elbow joint to move beyond its normal range of motion NOT_TRANSLATED +en The ability of the finger joints to move beyond their normal range of motion HP:0001187 IAO:0000115 nl The ability of the finger joints to move beyond their normal range of motion NOT_TRANSLATED +en The ability of the interphalangeal joints to move beyond their normal range of motion HP:0005620 IAO:0000115 nl The ability of the interphalangeal joints to move beyond their normal range of motion NOT_TRANSLATED +en The ability of the joints of the hand to move beyond their normal range of motion HP:0005639 IAO:0000115 nl The ability of the joints of the hand to move beyond their normal range of motion NOT_TRANSLATED +en The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh) HP:0010500 IAO:0000115 nl The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh) NOT_TRANSLATED +en The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees) HP:0045086 IAO:0000115 nl The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees) NOT_TRANSLATED +en The ability of the thumb joints to move beyond their normal range of motion HP:0005722 IAO:0000115 nl The ability of the thumb joints to move beyond their normal range of motion NOT_TRANSLATED +en The ability of the wrist joints to move beyond their normal range of motion HP:0005072 IAO:0000115 nl The ability of the wrist joints to move beyond their normal range of motion NOT_TRANSLATED +en The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema HP:0001789 IAO:0000115 nl The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema NOT_TRANSLATED +en The abnormal fusion of neighboring bones across a joint HP:0100240 IAO:0000115 nl The abnormal fusion of neighboring bones across a joint NOT_TRANSLATED +en The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur HP:0031087 IAO:0000115 nl The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur NOT_TRANSLATED +en The absence of a phalangeal segment of a finger HP:0011299 IAO:0000115 nl The absence of a phalangeal segment of a finger NOT_TRANSLATED +en The absence of a phalangeal segment of a thumb HP:0009659 IAO:0000115 nl The absence of a phalangeal segment of a thumb NOT_TRANSLATED +en The absence of a phalangeal segment of a toe or hallux HP:0011305 IAO:0000115 nl The absence of a phalangeal segment of a toe or hallux NOT_TRANSLATED +en The absence of all phalanges of a digit and the associated metacarpal /metatarsal HP:0030030 IAO:0000115 nl The absence of all phalanges of a digit and the associated metacarpal /metatarsal NOT_TRANSLATED +en The absence of all phalanges of all the digits of a limb and the associated soft tissues HP:0009776 IAO:0000115 nl The absence of all phalanges of all the digits of a limb and the associated soft tissues NOT_TRANSLATED +en The absence of all teeth from the normal series by a failure to develop HP:0000674 IAO:0000115 nl The absence of all teeth from the normal series by a failure to develop NOT_TRANSLATED +en The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases HP:0033581 IAO:0000115 nl The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases NOT_TRANSLATED +en The absence of five or less teeth from the normal series by a failure to develop HP:0000668 IAO:0000115 nl The absence of five or less teeth from the normal series by a failure to develop NOT_TRANSLATED +en The absence of ganglioside GM3 HP:0410370 IAO:0000115 nl The absence of ganglioside GM3 NOT_TRANSLATED +en The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production HP:0041042 IAO:0000115 nl The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production NOT_TRANSLATED +en The absence of one or more teeth from the normal series by a failurento develop HP:0009804 IAO:0000115 nl The absence of one or more teeth from the normal series by a failurento develop NOT_TRANSLATED +en The absence of six or more teeth from the normal series by a failurento develop HP:0000677 IAO:0000115 nl The absence of six or more teeth from the normal series by a failurento develop NOT_TRANSLATED +en The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease) HP:0010489 IAO:0000115 nl The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease) NOT_TRANSLATED +en The absence of the normal curvature of the vertebral column HP:0100795 IAO:0000115 nl The absence of the normal curvature of the vertebral column NOT_TRANSLATED +en The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous HP:0500051 IAO:0000115 nl The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous NOT_TRANSLATED +en The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic HP:0032948 IAO:0000115 nl The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic NOT_TRANSLATED +en The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling HP:0033415 IAO:0000115 nl The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling NOT_TRANSLATED +en The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation HP:0004845 IAO:0000115 nl The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation NOT_TRANSLATED +en The affected individual has received an organ transplant previous to the current medical encounter HP:0032444 IAO:0000115 nl The affected individual has received an organ transplant previous to the current medical encounter NOT_TRANSLATED +en The age group in which disease manifestations appear HP:0003674 IAO:0000115 nl The age group in which disease manifestations appear NOT_TRANSLATED +en The age group when the cessation of life happens HP:0011420 IAO:0000115 nl The age group when the cessation of life happens NOT_TRANSLATED +en The anatomical localization of the specified phenotypic abnormality HP:0012830 IAO:0000115 nl The anatomical localization of the specified phenotypic abnormality NOT_TRANSLATED +en The anterior abdominal wall is sunken and presents a concave rather than a convex contour HP:0025063 IAO:0000115 nl The anterior abdominal wall is sunken and presents a concave rather than a convex contour NOT_TRANSLATED +en The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age HP:0004474 IAO:0000115 nl The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age NOT_TRANSLATED +en The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix HP:0011258 IAO:0000115 nl The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix NOT_TRANSLATED +en The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery HP:0002627 IAO:0000115 nl The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery NOT_TRANSLATED +en The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta HP:0011588 IAO:0000115 nl The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta NOT_TRANSLATED +en The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other HP:0100531 IAO:0000115 nl The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other NOT_TRANSLATED +en The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography HP:0031144 IAO:0000115 nl The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography NOT_TRANSLATED +en The appearance of the urine having visible material in suspension, i.e., appearing cloudy HP:0031967 IAO:0000115 nl The appearance of the urine having visible material in suspension, i.e., appearing cloudy NOT_TRANSLATED +en The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous HP:0011533 IAO:0000115 nl The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous NOT_TRANSLATED +en The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention HP:0033180 IAO:0000115 nl The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention NOT_TRANSLATED +en The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape HP:0032315 IAO:0000115 nl The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape NOT_TRANSLATED +en The birth of a baby of less than 37 weeks of gestational age HP:0001622 IAO:0000115 nl The birth of a baby of less than 37 weeks of gestational age NOT_TRANSLATED +en The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones HP:0004234 IAO:0000115 nl The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones NOT_TRANSLATED +en The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation HP:0000927 IAO:0000115 nl The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation NOT_TRANSLATED +en The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes HP:0010851 IAO:0000115 nl The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes NOT_TRANSLATED +en The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces HP:0032379 IAO:0000115 nl The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces NOT_TRANSLATED +en The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus HP:0100266 IAO:0000115 nl The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus NOT_TRANSLATED +en The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding HP:4000138 IAO:0000115 nl The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding NOT_TRANSLATED +en The circumflex coronary artery originates from the right aortic sinus of Valsalva HP:0025505 IAO:0000115 nl The circumflex coronary artery originates from the right aortic sinus of Valsalva NOT_TRANSLATED +en The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637) HP:0011427 IAO:0000115 nl The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637) NOT_TRANSLATED +en The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly HP:0031576 IAO:0000115 nl The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly NOT_TRANSLATED +en The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium HP:0031577 IAO:0000115 nl The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium NOT_TRANSLATED +en The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation HP:0030454 IAO:0000115 nl The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation NOT_TRANSLATED +en The closed form of spina bifida with incomplete closure of S1 with intact overlying skin HP:0004614 IAO:0000115 nl The closed form of spina bifida with incomplete closure of S1 with intact overlying skin NOT_TRANSLATED +en The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin HP:0003298 IAO:0000115 nl The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin NOT_TRANSLATED +en The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin HP:0004601 IAO:0000115 nl The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin NOT_TRANSLATED +en The combination of pendular nystagmus, head nodding, and torticollis HP:0010533 IAO:0000115 nl The combination of pendular nystagmus, head nodding, and torticollis NOT_TRANSLATED +en The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus HP:0011679 IAO:0000115 nl The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus NOT_TRANSLATED +en The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve HP:0011554 IAO:0000115 nl The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve NOT_TRANSLATED +en The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle HP:0011557 IAO:0000115 nl The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle NOT_TRANSLATED +en The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual HP:0011555 IAO:0000115 nl The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual NOT_TRANSLATED +en The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic HP:0011556 IAO:0000115 nl The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic NOT_TRANSLATED +en The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food HP:0033842 IAO:0000115 nl The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food NOT_TRANSLATED +en The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors HP:0011517 IAO:0000115 nl The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors NOT_TRANSLATED +en The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food HP:0040288 IAO:0000115 nl The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food NOT_TRANSLATED +en The congenital absence of the sternum HP:0010308 IAO:0000115 nl The congenital absence of the sternum NOT_TRANSLATED +en The congenital absence of the thyroid gland HP:0008191 IAO:0000115 nl The congenital absence of the thyroid gland NOT_TRANSLATED +en The contour of the foot in lateral profile has a convex shape HP:0011303 IAO:0000115 nl The contour of the foot in lateral profile has a convex shape NOT_TRANSLATED +en The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results HP:0000641 IAO:0000115 nl The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results NOT_TRANSLATED +en The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual HP:0031797 IAO:0000115 nl The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual NOT_TRANSLATED +en The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle HP:0030808 IAO:0000115 nl The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle NOT_TRANSLATED +en The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth HP:0033787 IAO:0000115 nl The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth NOT_TRANSLATED +en The deposition of calcium phosphate microliths within the seminiferous tubules HP:0012215 IAO:0000115 nl The deposition of calcium phosphate microliths within the seminiferous tubules NOT_TRANSLATED +en The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla) HP:0012409 IAO:0000115 nl The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla) NOT_TRANSLATED +en The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney) HP:0012408 IAO:0000115 nl The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney) NOT_TRANSLATED +en The development of Pes cavus that is progressive with age HP:0008075 IAO:0000115 nl The development of Pes cavus that is progressive with age NOT_TRANSLATED +en The development of two teeth from a single tooth bud, leading to a larger fused tooth HP:0011091 IAO:0000115 nl The development of two teeth from a single tooth bud, leading to a larger fused tooth NOT_TRANSLATED +en The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin HP:0000694 IAO:0000115 nl The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin NOT_TRANSLATED +en The difference between total and manifest myopia HP:0500066 IAO:0000115 nl The difference between total and manifest myopia NOT_TRANSLATED +en The distal and proximal transverse palmar creases are merged into a single transverse palmar crease HP:0000954 IAO:0000115 nl The distal and proximal transverse palmar creases are merged into a single transverse palmar crease NOT_TRANSLATED +en The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands HP:0007598 IAO:0000115 nl The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands NOT_TRANSLATED +en The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance HP:0004000 IAO:0000115 nl The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance NOT_TRANSLATED +en The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension HP:0100490 IAO:0000115 nl The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension NOT_TRANSLATED +en The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension HP:0012385 IAO:0000115 nl The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension NOT_TRANSLATED +en The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension HP:0001215 IAO:0000115 nl The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension NOT_TRANSLATED +en The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively HP:0100352 IAO:0000115 nl The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively NOT_TRANSLATED +en The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively HP:0100353 IAO:0000115 nl The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively NOT_TRANSLATED +en The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively HP:0100354 IAO:0000115 nl The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively NOT_TRANSLATED +en The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively HP:0100355 IAO:0000115 nl The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively NOT_TRANSLATED +en The distal parts of the limbs are missing leading to a stump formation HP:0009828 IAO:0000115 nl The distal parts of the limbs are missing leading to a stump formation NOT_TRANSLATED +en The distention of the ureter with urine HP:0000072 IAO:0000115 nl The distention of the ureter with urine NOT_TRANSLATED +en The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle HP:0005144 IAO:0000115 nl The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle NOT_TRANSLATED +en The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage HP:0032100 IAO:0000115 nl The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage NOT_TRANSLATED +en The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension HP:0030965 IAO:0000115 nl The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension NOT_TRANSLATED +en The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration HP:0012876 IAO:0000115 nl The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration NOT_TRANSLATED +en The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm HP:0012877 IAO:0000115 nl The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm NOT_TRANSLATED +en The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area HP:0032221 IAO:0000115 nl The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area NOT_TRANSLATED +en The enteric villi are atrophic or absent HP:0011473 IAO:0000115 nl The enteric villi are atrophic or absent NOT_TRANSLATED +en The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs HP:0010021 IAO:0000115 nl The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs HP:0010155 IAO:0000115 nl The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs NOT_TRANSLATED +en The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form HP:0010150 IAO:0000115 nl The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form NOT_TRANSLATED +en The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form HP:0010139 IAO:0000115 nl The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form NOT_TRANSLATED +en The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal HP:0010022 IAO:0000115 nl The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal NOT_TRANSLATED +en The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form HP:0010128 IAO:0000115 nl The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form NOT_TRANSLATED +en The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta HP:0011540 IAO:0000115 nl The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta NOT_TRANSLATED +en The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux HP:0030849 IAO:0000115 nl The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux NOT_TRANSLATED +en The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid HP:0010731 IAO:0000115 nl The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid NOT_TRANSLATED +en The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda HP:0034254 IAO:0000115 nl The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda NOT_TRANSLATED +en The facial appearance is more circular than usual as viewed from the front HP:0000311 IAO:0000115 nl The facial appearance is more circular than usual as viewed from the front NOT_TRANSLATED +en The false perception of sound HP:0008765 IAO:0000115 nl The false perception of sound NOT_TRANSLATED +en The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object HP:0033694 IAO:0000115 nl The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object NOT_TRANSLATED +en The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors HP:0000744 IAO:0000115 nl The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors NOT_TRANSLATED +en The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle HP:0033102 IAO:0000115 nl The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle NOT_TRANSLATED +en The femur is shortened and displays flaring (widening) of the metaphyses HP:0006375 IAO:0000115 nl The femur is shortened and displays flaring (widening) of the metaphyses NOT_TRANSLATED +en The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen HP:0020186 IAO:0000115 nl The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen NOT_TRANSLATED +en The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis HP:0100588 IAO:0000115 nl The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis NOT_TRANSLATED +en The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site HP:0001907 IAO:0000115 nl The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site NOT_TRANSLATED +en The formation of a blood clot inside an artery HP:0004420 IAO:0000115 nl The formation of a blood clot inside an artery NOT_TRANSLATED +en The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin HP:0003341 IAO:0000115 nl The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin NOT_TRANSLATED +en The formation of new bone along the cortex and underneath the periosteum of a bone HP:0031485 IAO:0000115 nl The formation of new bone along the cortex and underneath the periosteum of a bone NOT_TRANSLATED +en The formation of small cavities in the tissue of the basal ganglia HP:0007007 IAO:0000115 nl The formation of small cavities in the tissue of the basal ganglia NOT_TRANSLATED +en The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques HP:0410152 IAO:0000115 nl The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques NOT_TRANSLATED +en The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain HP:0007201 IAO:0000115 nl The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain NOT_TRANSLATED +en The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging HP:4000105 IAO:0000115 nl The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging NOT_TRANSLATED +en The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction HP:0031659 IAO:0000115 nl The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction NOT_TRANSLATED +en The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root HP:0005495 IAO:0000115 nl The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root NOT_TRANSLATED +en The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae HP:0031580 IAO:0000115 nl The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae NOT_TRANSLATED +en The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child HP:0005600 IAO:0000115 nl The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child NOT_TRANSLATED +en The gradual reduction in girth of the finger from proximal to distal HP:0001182 IAO:0000115 nl The gradual reduction in girth of the finger from proximal to distal NOT_TRANSLATED +en The gradual reduction in girth of the toe from proximal to distal HP:0011309 IAO:0000115 nl The gradual reduction in girth of the toe from proximal to distal NOT_TRANSLATED +en The growth of endometrial tissue outside the uterus HP:0030127 IAO:0000115 nl The growth of endometrial tissue outside the uterus NOT_TRANSLATED +en The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture HP:0032470 IAO:0000115 nl The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture NOT_TRANSLATED +en The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair HP:0009553 IAO:0000115 nl The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair NOT_TRANSLATED +en The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset) HP:0001645 IAO:0000115 nl The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset) NOT_TRANSLATED +en The humerus is shortened and displays flaring (widening) of the metaphyses HP:0005009 IAO:0000115 nl The humerus is shortened and displays flaring (widening) of the metaphyses NOT_TRANSLATED +en The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature HP:0031026 IAO:0000115 nl The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature NOT_TRANSLATED +en The impaired ability to establish new long-term memories HP:0033689 IAO:0000115 nl The impaired ability to establish new long-term memories NOT_TRANSLATED +en The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days HP:0012423 IAO:0000115 nl The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days NOT_TRANSLATED +en The inability to close the eyelids during sleep HP:0030002 IAO:0000115 nl The inability to close the eyelids during sleep NOT_TRANSLATED +en The inability to maintain a comfortable body temperature in warm or hot weather HP:0002046 IAO:0000115 nl The inability to maintain a comfortable body temperature in warm or hot weather NOT_TRANSLATED +en The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts HP:0040200 IAO:0000115 nl The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts NOT_TRANSLATED +en The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination HP:0410303 IAO:0000115 nl The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination HP:0410296 IAO:0000115 nl The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination HP:0410304 IAO:0000115 nl The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination HP:0410300 IAO:0000115 nl The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination HP:0410295 IAO:0000115 nl The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination NOT_TRANSLATED +en The intensity or degree of a manifestation HP:0012824 IAO:0000115 nl The intensity or degree of a manifestation NOT_TRANSLATED +en The interphalangeal joint of the big toe cannot be straightened actively or passively HP:0010214 IAO:0000115 nl The interphalangeal joint of the big toe cannot be straightened actively or passively NOT_TRANSLATED +en The intracellular accumulation of autofluorescent storage material HP:0003204 IAO:0000115 nl The intracellular accumulation of autofluorescent storage material NOT_TRANSLATED +en The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively HP:0100359 IAO:0000115 nl The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively NOT_TRANSLATED +en The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively HP:0010215 IAO:0000115 nl The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively NOT_TRANSLATED +en The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively HP:0100358 IAO:0000115 nl The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively NOT_TRANSLATED +en The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively HP:0100356 IAO:0000115 nl The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively NOT_TRANSLATED +en The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively HP:0100357 IAO:0000115 nl The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively NOT_TRANSLATED +en The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency HP:0025701 IAO:0000115 nl The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency NOT_TRANSLATED +en The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect HP:0031033 IAO:0000115 nl The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect NOT_TRANSLATED +en The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove HP:0002999 IAO:0000115 nl The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove NOT_TRANSLATED +en The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella HP:0010499 IAO:0000115 nl The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella NOT_TRANSLATED +en The left anterior descending artery (LAD) branches off from the pulmonary artery HP:0031638 IAO:0000115 nl The left anterior descending artery (LAD) branches off from the pulmonary artery NOT_TRANSLATED +en The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue HP:0011568 IAO:0000115 nl The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue NOT_TRANSLATED +en The left common carotid artery has a common origin with the innominate artery HP:0011589 IAO:0000115 nl The left common carotid artery has a common origin with the innominate artery NOT_TRANSLATED +en The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery HP:0031635 IAO:0000115 nl The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery NOT_TRANSLATED +en The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery HP:0031634 IAO:0000115 nl The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery NOT_TRANSLATED +en The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava HP:0031639 IAO:0000115 nl The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava NOT_TRANSLATED +en The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery HP:0011661 IAO:0000115 nl The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery NOT_TRANSLATED +en The legs angle inward, such that the knees are close together and the ankles far apart HP:0002857 IAO:0000115 nl The legs angle inward, such that the knees are close together and the ankles far apart NOT_TRANSLATED +en The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles HP:0032269 IAO:0000115 nl The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles NOT_TRANSLATED +en The length of the incisura from the upper to lower border is greater than that observed in the average population HP:0031229 IAO:0000115 nl The length of the incisura from the upper to lower border is greater than that observed in the average population NOT_TRANSLATED +en The length of the incisura from the upper to lower border is less than that observed in the average population HP:0031230 IAO:0000115 nl The length of the incisura from the upper to lower border is less than that observed in the average population NOT_TRANSLATED +en The localization with respect to the side of the body of the specified phenotypic abnormality HP:0012831 IAO:0000115 nl The localization with respect to the side of the body of the specified phenotypic abnormality NOT_TRANSLATED +en The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus HP:0031633 IAO:0000115 nl The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus NOT_TRANSLATED +en The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth HP:0030816 IAO:0000115 nl The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth NOT_TRANSLATED +en The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes HP:0100792 IAO:0000115 nl The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes NOT_TRANSLATED +en The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue HP:0003736 IAO:0000115 nl The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue NOT_TRANSLATED +en The male foreskin cannot be fully retracted from the head of the penis HP:0001741 IAO:0000115 nl The male foreskin cannot be fully retracted from the head of the penis NOT_TRANSLATED +en The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac HP:0500037 IAO:0000115 nl The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac NOT_TRANSLATED +en The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body HP:0001840 IAO:0000115 nl The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body NOT_TRANSLATED +en The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand HP:0100807 IAO:0000115 nl The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand NOT_TRANSLATED +en The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat HP:0006193 IAO:0000115 nl The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat NOT_TRANSLATED +en The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures HP:0030774 IAO:0000115 nl The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures NOT_TRANSLATED +en The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities HP:0033680 IAO:0000115 nl The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities NOT_TRANSLATED +en The most dramatic and severe form of hair loss characterized by an absence of hair follicles HP:0500262 IAO:0000115 nl The most dramatic and severe form of hair loss characterized by an absence of hair follicles NOT_TRANSLATED +en The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia) HP:0001818 IAO:0000115 nl The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia) NOT_TRANSLATED +en The narrowing or partial blockage of a portion of the duodenum HP:0100867 IAO:0000115 nl The narrowing or partial blockage of a portion of the duodenum NOT_TRANSLATED +en The narrowing or partial blockage of a portion of the small intestine HP:0012848 IAO:0000115 nl The narrowing or partial blockage of a portion of the small intestine NOT_TRANSLATED +en The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy HP:0025706 IAO:0000115 nl The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy NOT_TRANSLATED +en The natural longitudinal (posterodistal) convex arch is not present or is inverted HP:0001598 IAO:0000115 nl The natural longitudinal (posterodistal) convex arch is not present or is inverted NOT_TRANSLATED +en The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina HP:0500052 IAO:0000115 nl The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina NOT_TRANSLATED +en The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium HP:0030725 IAO:0000115 nl The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium NOT_TRANSLATED +en The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present HP:0010227 IAO:0000115 nl The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED +en The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present HP:0010225 IAO:0000115 nl The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED +en The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present HP:0010223 IAO:0000115 nl The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present NOT_TRANSLATED +en The nostrils (the paired channels of the nose) are not present HP:0100596 IAO:0000115 nl The nostrils (the paired channels of the nose) are not present NOT_TRANSLATED +en The occurence of an elevated body temperature of the mother during pregnancy HP:0030244 IAO:0000115 nl The occurence of an elevated body temperature of the mother during pregnancy NOT_TRANSLATED +en The occurence of fever in a mother during the first trimester of pregnancy HP:0030246 IAO:0000115 nl The occurence of fever in a mother during the first trimester of pregnancy NOT_TRANSLATED +en The occurence of maternal fever during labor HP:0030245 IAO:0000115 nl The occurence of maternal fever during labor NOT_TRANSLATED +en The occurrence of an immune reaction against the organism's own cells or tissues HP:0002960 IAO:0000115 nl The occurrence of an immune reaction against the organism's own cells or tissues NOT_TRANSLATED +en The occurrence of an unusually high amount of muscle pain following exercise HP:0003738 IAO:0000115 nl The occurrence of an unusually high amount of muscle pain following exercise NOT_TRANSLATED +en The occurrence of multiple distinct meningiomas in the same individual HP:0033714 IAO:0000115 nl The occurrence of multiple distinct meningiomas in the same individual NOT_TRANSLATED +en The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate HP:0410340 IAO:0000115 nl The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate NOT_TRANSLATED +en The occurrence of repeated episodes of generalized muscular hypotonia HP:0006852 IAO:0000115 nl The occurrence of repeated episodes of generalized muscular hypotonia NOT_TRANSLATED +en The occurrence of the full-thickness tear (perforation) of the wall of the esophagus HP:0005203 IAO:0000115 nl The occurrence of the full-thickness tear (perforation) of the wall of the esophagus NOT_TRANSLATED +en The onset of growth of pubic hair at an earlier age than normal HP:0012411 IAO:0000115 nl The onset of growth of pubic hair at an earlier age than normal NOT_TRANSLATED +en The onset of puberty before the age of 8 years in girls HP:0010465 IAO:0000115 nl The onset of puberty before the age of 8 years in girls NOT_TRANSLATED +en The onset of puberty before the age of 9 years in boys HP:0008185 IAO:0000115 nl The onset of puberty before the age of 9 years in boys NOT_TRANSLATED +en The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys HP:0000826 IAO:0000115 nl The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys NOT_TRANSLATED +en The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other HP:0030867 IAO:0000115 nl The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other NOT_TRANSLATED +en The outer labia are sealed together HP:0025486 IAO:0000115 nl The outer labia are sealed together NOT_TRANSLATED +en The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age HP:0000582 IAO:0000115 nl The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age NOT_TRANSLATED +en The palpebral fissure inclination is more than two standard deviations below the mean HP:0000494 IAO:0000115 nl The palpebral fissure inclination is more than two standard deviations below the mean NOT_TRANSLATED +en The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding HP:0002249 IAO:0000115 nl The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding NOT_TRANSLATED +en The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus HP:0002573 IAO:0000115 nl The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus NOT_TRANSLATED +en The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception HP:0002403 IAO:0000115 nl The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception NOT_TRANSLATED +en The pattern by which a phenotype affects one or more regions of the body HP:0012836 IAO:0000115 nl The pattern by which a phenotype affects one or more regions of the body NOT_TRANSLATED +en The pattern in which a particular genetic trait or disorder is passed from one generation to the next HP:0000005 IAO:0000115 nl The pattern in which a particular genetic trait or disorder is passed from one generation to the next NOT_TRANSLATED +en The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males HP:0025521 IAO:0000115 nl The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males NOT_TRANSLATED +en The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males HP:0041079 IAO:0000115 nl The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males NOT_TRANSLATED +en The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal HP:0030015 IAO:0000115 nl The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal NOT_TRANSLATED +en The pinna has fewer folds and grooves than usual HP:0020206 IAO:0000115 nl The pinna has fewer folds and grooves than usual NOT_TRANSLATED +en The position of the umbilicus (belly button) is abnormally high (superior) HP:0032511 IAO:0000115 nl The position of the umbilicus (belly button) is abnormally high (superior) NOT_TRANSLATED +en The position of the umbilicus (belly button) is abnormally low (inferior) HP:0032527 IAO:0000115 nl The position of the umbilicus (belly button) is abnormally low (inferior) NOT_TRANSLATED +en The postnatal development of an abnormally large skull (macrocephaly) HP:0005490 IAO:0000115 nl The postnatal development of an abnormally large skull (macrocephaly) NOT_TRANSLATED +en The practice of eating earth or soil-like substrates such as clay or chalk HP:0025062 IAO:0000115 nl The practice of eating earth or soil-like substrates such as clay or chalk NOT_TRANSLATED +en The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen HP:0033034 IAO:0000115 nl The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen NOT_TRANSLATED +en The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP HP:0033028 IAO:0000115 nl The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP NOT_TRANSLATED +en The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas HP:0010878 IAO:0000115 nl The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas NOT_TRANSLATED +en The presence in serum of antibodies against smooth muscle HP:0003262 IAO:0000115 nl The presence in serum of antibodies against smooth muscle NOT_TRANSLATED +en The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin HP:0000997 IAO:0000115 nl The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin NOT_TRANSLATED +en The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin HP:0030052 IAO:0000115 nl The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin NOT_TRANSLATED +en The presence in the serum of an autoantibody directed against the Fc portion of IgG HP:0002923 IAO:0000115 nl The presence in the serum of an autoantibody directed against the Fc portion of IgG NOT_TRANSLATED +en The presence in the serum of autoantibodies directed against thrombocytes HP:0003454 IAO:0000115 nl The presence in the serum of autoantibodies directed against thrombocytes NOT_TRANSLATED +en The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets HP:0032958 IAO:0000115 nl The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets NOT_TRANSLATED +en The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase HP:0012085 IAO:0000115 nl The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase NOT_TRANSLATED +en The presence of 11 instead of the normal 12 thoracic vertebrae HP:0030306 IAO:0000115 nl The presence of 11 instead of the normal 12 thoracic vertebrae NOT_TRANSLATED +en The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals HP:0034279 IAO:0000115 nl The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals NOT_TRANSLATED +en The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside HP:0034126 IAO:0000115 nl The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside NOT_TRANSLATED +en The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1 HP:0034112 IAO:0000115 nl The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1 NOT_TRANSLATED +en The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside HP:0034130 IAO:0000115 nl The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside NOT_TRANSLATED +en The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a HP:0034119 IAO:0000115 nl The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a NOT_TRANSLATED +en The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b HP:0034127 IAO:0000115 nl The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b NOT_TRANSLATED +en The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) HP:0034020 IAO:0000115 nl The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) NOT_TRANSLATED +en The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) HP:0034023 IAO:0000115 nl The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) NOT_TRANSLATED +en The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) HP:0034021 IAO:0000115 nl The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A) NOT_TRANSLATED +en The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) HP:0034024 IAO:0000115 nl The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B) NOT_TRANSLATED +en The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside HP:0034125 IAO:0000115 nl The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside NOT_TRANSLATED +en The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1 HP:0034118 IAO:0000115 nl The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1 NOT_TRANSLATED +en The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside HP:0034129 IAO:0000115 nl The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside NOT_TRANSLATED +en The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a HP:0034120 IAO:0000115 nl The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a NOT_TRANSLATED +en The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b HP:0034123 IAO:0000115 nl The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b NOT_TRANSLATED +en The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum HP:0031907 IAO:0000115 nl The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum NOT_TRANSLATED +en The presence of Neurofibromas in the subcutis HP:0100698 IAO:0000115 nl The presence of Neurofibromas in the subcutis NOT_TRANSLATED +en The presence of a V-shaped indentation (notch) in the primary central incisor HP:0012413 IAO:0000115 nl The presence of a V-shaped indentation (notch) in the primary central incisor NOT_TRANSLATED +en The presence of a adenoma of the thyroid gland HP:0000854 IAO:0000115 nl The presence of a adenoma of the thyroid gland NOT_TRANSLATED +en The presence of a basal cell carcinoma of the skin HP:0002671 IAO:0000115 nl The presence of a basal cell carcinoma of the skin NOT_TRANSLATED +en The presence of a bicornuate uterus HP:0000813 IAO:0000115 nl The presence of a bicornuate uterus NOT_TRANSLATED +en The presence of a bicuspid pulmonary valve HP:0005182 IAO:0000115 nl The presence of a bicuspid pulmonary valve NOT_TRANSLATED +en The presence of a bifid uterus HP:0000136 IAO:0000115 nl De aanwezigheid van een bifide uterus CANDIDATE +en The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium HP:0005608 IAO:0000115 nl The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium NOT_TRANSLATED +en The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces HP:0005306 IAO:0000115 nl The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces NOT_TRANSLATED +en The presence of a carcinoma in the renal pelvis HP:0006762 IAO:0000115 nl The presence of a carcinoma in the renal pelvis NOT_TRANSLATED +en The presence of a carcinoma of the breast HP:0003002 IAO:0000115 nl The presence of a carcinoma of the breast NOT_TRANSLATED +en The presence of a carcinoma of the esophagus HP:0011459 IAO:0000115 nl The presence of a carcinoma of the esophagus NOT_TRANSLATED +en The presence of a carcinoma of the thyroid gland HP:0002890 IAO:0000115 nl The presence of a carcinoma of the thyroid gland NOT_TRANSLATED +en The presence of a carcinoma of the urinary bladder HP:0002862 IAO:0000115 nl The presence of a carcinoma of the urinary bladder NOT_TRANSLATED +en The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell HP:0006740 IAO:0000115 nl The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell NOT_TRANSLATED +en The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma HP:0001048 IAO:0000115 nl The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma NOT_TRANSLATED +en The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten HP:0200046 IAO:0000115 nl The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten NOT_TRANSLATED +en The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area HP:0010636 IAO:0000115 nl The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area NOT_TRANSLATED +en The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately HP:0000202 IAO:0000115 nl The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately NOT_TRANSLATED +en The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed HP:0005442 IAO:0000115 nl The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed NOT_TRANSLATED +en The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds HP:0010767 IAO:0000115 nl The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds NOT_TRANSLATED +en The presence of a dilated inner part of external acoustic meatus HP:0004458 IAO:0000115 nl The presence of a dilated inner part of external acoustic meatus NOT_TRANSLATED +en The presence of a dilated urinary bladder HP:0010955 IAO:0000115 nl The presence of a dilated urinary bladder NOT_TRANSLATED +en The presence of a diverticulum (sac or pouch) in the wall of the urethra HP:0008722 IAO:0000115 nl The presence of a diverticulum (sac or pouch) in the wall of the urethra NOT_TRANSLATED +en The presence of a diverticulum of the esophagus HP:0100628 IAO:0000115 nl The presence of a diverticulum of the esophagus NOT_TRANSLATED +en The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary HP:0100621 IAO:0000115 nl The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary NOT_TRANSLATED +en The presence of a fibroma of the ovary HP:0010618 IAO:0000115 nl The presence of a fibroma of the ovary NOT_TRANSLATED +en The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible HP:0008087 IAO:0000115 nl The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible NOT_TRANSLATED +en The presence of a fistula (abnormal tunnel) between the anal canal and the perineum HP:0005218 IAO:0000115 nl The presence of a fistula (abnormal tunnel) between the anal canal and the perineum NOT_TRANSLATED +en The presence of a fistula affecting the genitourinary system HP:0100589 IAO:0000115 nl The presence of a fistula affecting the genitourinary system NOT_TRANSLATED +en The presence of a fistula affecting the rectum HP:0100590 IAO:0000115 nl The presence of a fistula affecting the rectum NOT_TRANSLATED +en The presence of a fistula between the bowel and the perineum HP:0004871 IAO:0000115 nl The presence of a fistula between the bowel and the perineum NOT_TRANSLATED +en The presence of a fistula between the perineum and the rectum HP:0004792 IAO:0000115 nl The presence of a fistula between the perineum and the rectum NOT_TRANSLATED +en The presence of a fistula between the vagina and the rectum HP:0000143 IAO:0000115 nl The presence of a fistula between the vagina and the rectum NOT_TRANSLATED +en The presence of a fistula between the vagina and the urethra HP:0008716 IAO:0000115 nl The presence of a fistula between the vagina and the urethra NOT_TRANSLATED +en The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin HP:0004321 IAO:0000115 nl The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin NOT_TRANSLATED +en The presence of a fistula connecting the urinary bladder to the vagina HP:0001586 IAO:0000115 nl The presence of a fistula connecting the urinary bladder to the vagina NOT_TRANSLATED +en The presence of a fistula of the vagina HP:0004320 IAO:0000115 nl The presence of a fistula of the vagina NOT_TRANSLATED +en The presence of a folate sensitive fragile site at chromosome Xq28 HP:0003564 IAO:0000115 nl The presence of a folate sensitive fragile site at chromosome Xq28 NOT_TRANSLATED +en The presence of a forehead that is abnormally small HP:0000350 IAO:0000115 nl The presence of a forehead that is abnormally small NOT_TRANSLATED +en The presence of a germ cell tumor of the cerebrum HP:0100312 IAO:0000115 nl The presence of a germ cell tumor of the cerebrum NOT_TRANSLATED +en The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes) HP:0009733 IAO:0000115 nl The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes) NOT_TRANSLATED +en The presence of a gonadoblastoma of the ovary HP:0000149 IAO:0000115 nl The presence of a gonadoblastoma of the ovary NOT_TRANSLATED +en The presence of a gonadoblastoma of the testis HP:0000030 IAO:0000115 nl The presence of a gonadoblastoma of the testis NOT_TRANSLATED +en The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements HP:0000150 IAO:0000115 nl The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements NOT_TRANSLATED +en The presence of a hamartoma of the cerebrum HP:0009731 IAO:0000115 nl The presence of a hamartoma of the cerebrum NOT_TRANSLATED +en The presence of a hamartoma of the hypothalamus HP:0002444 IAO:0000115 nl The presence of a hamartoma of the hypothalamus NOT_TRANSLATED +en The presence of a hernia in the abdominal wall HP:0004299 IAO:0000115 nl The presence of a hernia in the abdominal wall NOT_TRANSLATED +en The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus HP:0002036 IAO:0000115 nl The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus NOT_TRANSLATED +en The presence of a hernia of the diaphragm present at birth HP:0000776 IAO:0000115 nl The presence of a hernia of the diaphragm present at birth NOT_TRANSLATED +en The presence of a hernia of the vagina HP:0100672 IAO:0000115 nl The presence of a hernia of the vagina NOT_TRANSLATED +en The presence of a high and narrow palate HP:0002705 IAO:0000115 nl The presence of a high and narrow palate NOT_TRANSLATED +en The presence of a hypoplastic gallbladder HP:0005233 IAO:0000115 nl The presence of a hypoplastic gallbladder NOT_TRANSLATED +en The presence of a left and a right superior vena cava HP:0033379 IAO:0000115 nl The presence of a left and a right superior vena cava NOT_TRANSLATED +en The presence of a leiomyoma of the uterus HP:0000131 IAO:0000115 nl The presence of a leiomyoma of the uterus NOT_TRANSLATED +en The presence of a leiomyosarcoma of the uterus HP:0002891 IAO:0000115 nl The presence of a leiomyosarcoma of the uterus NOT_TRANSLATED +en The presence of a localized dilatation or ballooning of a cerebral artery HP:0004944 IAO:0000115 nl The presence of a localized dilatation or ballooning of a cerebral artery NOT_TRANSLATED +en The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication HP:0008740 IAO:0000115 nl The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication NOT_TRANSLATED +en The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule HP:0010616 IAO:0000115 nl The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule NOT_TRANSLATED +en The presence of a malformed cochlea HP:0008554 IAO:0000115 nl The presence of a malformed cochlea NOT_TRANSLATED +en The presence of a malignant neoplasm of the genital system HP:0006758 IAO:0000115 nl The presence of a malignant neoplasm of the genital system NOT_TRANSLATED +en The presence of a medullary carcinoma of the thyroid gland HP:0002865 IAO:0000115 nl The presence of a medullary carcinoma of the thyroid gland NOT_TRANSLATED +en The presence of a melanoma of the skin HP:0012056 IAO:0000115 nl The presence of a melanoma of the skin NOT_TRANSLATED +en The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea) HP:0002861 IAO:0000115 nl The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea) NOT_TRANSLATED +en The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater HP:0002858 IAO:0000115 nl The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater NOT_TRANSLATED +en The presence of a mild form of hearing impairment HP:0012712 IAO:0000115 nl The presence of a mild form of hearing impairment NOT_TRANSLATED +en The presence of a mild form of sensorineural hearing impairment HP:0008587 IAO:0000115 nl The presence of a mild form of sensorineural hearing impairment NOT_TRANSLATED +en The presence of a moderate form of conductive hearing impairment HP:0012716 IAO:0000115 nl The presence of a moderate form of conductive hearing impairment NOT_TRANSLATED +en The presence of a moderate form of hearing impairment HP:0012713 IAO:0000115 nl The presence of a moderate form of hearing impairment NOT_TRANSLATED +en The presence of a moderate form of sensorineural hearing impairment HP:0008504 IAO:0000115 nl The presence of a moderate form of sensorineural hearing impairment NOT_TRANSLATED +en The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis HP:0011752 IAO:0000115 nl The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis NOT_TRANSLATED +en The presence of a neoplasm of the adrenal cortex HP:0100641 IAO:0000115 nl The presence of a neoplasm of the adrenal cortex NOT_TRANSLATED +en The presence of a neoplasm of the adrenal medulla HP:0100642 IAO:0000115 nl The presence of a neoplasm of the adrenal medulla NOT_TRANSLATED +en The presence of a neoplasm of the gallbladder HP:0100575 IAO:0000115 nl The presence of a neoplasm of the gallbladder NOT_TRANSLATED +en The presence of a neoplasm of the kidney HP:0009726 IAO:0000115 nl The presence of a neoplasm of the kidney NOT_TRANSLATED +en The presence of a neoplasm of the large intestine HP:0100834 IAO:0000115 nl The presence of a neoplasm of the large intestine NOT_TRANSLATED +en The presence of a neoplasm of the small intestine HP:0100833 IAO:0000115 nl The presence of a neoplasm of the small intestine NOT_TRANSLATED +en The presence of a neoplasm of the testis HP:0010788 IAO:0000115 nl The presence of a neoplasm of the testis NOT_TRANSLATED +en The presence of a neoplasm of the testis with origin in a Leydig cell HP:0100618 IAO:0000115 nl The presence of a neoplasm of the testis with origin in a Leydig cell NOT_TRANSLATED +en The presence of a neoplasm of the testis with origin in a Sertoli cell HP:0100619 IAO:0000115 nl The presence of a neoplasm of the testis with origin in a Sertoli cell NOT_TRANSLATED +en The presence of a neoplasm of the ureter HP:0100516 IAO:0000115 nl The presence of a neoplasm of the ureter NOT_TRANSLATED +en The presence of a neoplasm of the urethra HP:0100517 IAO:0000115 nl The presence of a neoplasm of the urethra NOT_TRANSLATED +en The presence of a neoplasm of the urinary bladder HP:0009725 IAO:0000115 nl The presence of a neoplasm of the urinary bladder NOT_TRANSLATED +en The presence of a neoplasm of the urinary system HP:0010786 IAO:0000115 nl The presence of a neoplasm of the urinary system NOT_TRANSLATED +en The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children HP:0002667 IAO:0000115 nl The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children NOT_TRANSLATED +en The presence of a notch in the margin of the ala nasi HP:0003191 IAO:0000115 nl The presence of a notch in the margin of the ala nasi NOT_TRANSLATED +en The presence of a papillary adenocarcinoma of the ovary HP:0006774 IAO:0000115 nl The presence of a papillary adenocarcinoma of the ovary NOT_TRANSLATED +en The presence of a papillary adenocarcinoma of the thyroid gland HP:0002895 IAO:0000115 nl The presence of a papillary adenocarcinoma of the thyroid gland NOT_TRANSLATED +en The presence of a paralyzed diaphragm HP:0006597 IAO:0000115 nl The presence of a paralyzed diaphragm NOT_TRANSLATED +en The presence of a partially duplicated kidney HP:0008738 IAO:0000115 nl The presence of a partially duplicated kidney NOT_TRANSLATED +en The presence of a peripheral schwannoma HP:0009593 IAO:0000115 nl The presence of a peripheral schwannoma NOT_TRANSLATED +en The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration) HP:0100632 IAO:0000115 nl The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration) NOT_TRANSLATED +en The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones HP:0031430 IAO:0000115 nl The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones NOT_TRANSLATED +en The presence of a rash (change of color and texture) of the perianal skin HP:0011131 IAO:0000115 nl The presence of a rash (change of color and texture) of the perianal skin NOT_TRANSLATED +en The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage HP:0000923 IAO:0000115 nl The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage NOT_TRANSLATED +en The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed HP:0005476 IAO:0000115 nl The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed NOT_TRANSLATED +en The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin HP:0009720 IAO:0000115 nl The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin NOT_TRANSLATED +en The presence of a seminoma, an undifferentiated germ cell tumor of the testis HP:0100617 IAO:0000115 nl The presence of a seminoma, an undifferentiated germ cell tumor of the testis NOT_TRANSLATED +en The presence of a single coronary artery ostium from which both coronary arteries arise HP:0011640 IAO:0000115 nl The presence of a single coronary artery ostium from which both coronary arteries arise NOT_TRANSLATED +en The presence of a size difference between the left and right cornea HP:0009915 IAO:0000115 nl The presence of a size difference between the left and right cornea NOT_TRANSLATED +en The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones HP:0003015 IAO:0000115 nl The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones NOT_TRANSLATED +en The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm HP:0003849 IAO:0000115 nl The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm NOT_TRANSLATED +en The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg HP:0030307 IAO:0000115 nl The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg NOT_TRANSLATED +en The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula HP:0030309 IAO:0000115 nl The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula NOT_TRANSLATED +en The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia HP:0030308 IAO:0000115 nl The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia NOT_TRANSLATED +en The presence of a splayed (i.e.,flared) metaphyseal segment of the radius HP:0004018 IAO:0000115 nl The presence of a splayed (i.e.,flared) metaphyseal segment of the radius NOT_TRANSLATED +en The presence of a stenosis (narrowing) of the aortic valve HP:0001650 IAO:0000115 nl The presence of a stenosis (narrowing) of the aortic valve NOT_TRANSLATED +en The presence of a stenotic, i.e., constricted ureter HP:0000071 IAO:0000115 nl The presence of a stenotic, i.e., constricted ureter NOT_TRANSLATED +en The presence of a supernumerary Fallopian tube HP:0012885 IAO:0000115 nl The presence of a supernumerary Fallopian tube NOT_TRANSLATED +en The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly HP:0006159 IAO:0000115 nl The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly NOT_TRANSLATED +en The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly HP:0100260 IAO:0000115 nl The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly NOT_TRANSLATED +en The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly HP:0010112 IAO:0000115 nl The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly NOT_TRANSLATED +en The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix HP:0100015 IAO:0000115 nl The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix NOT_TRANSLATED +en The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor HP:0006332 IAO:0000115 nl The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor NOT_TRANSLATED +en The presence of a tail-like skin appendage located adjacent to the sacrum HP:0002825 IAO:0000115 nl The presence of a tail-like skin appendage located adjacent to the sacrum NOT_TRANSLATED +en The presence of a teratoma HP:0009792 IAO:0000115 nl The presence of a teratoma NOT_TRANSLATED +en The presence of a teratoma in the ovary HP:0012226 IAO:0000115 nl The presence of a teratoma in the ovary NOT_TRANSLATED +en The presence of a teratoma of the testis HP:0100616 IAO:0000115 nl The presence of a teratoma of the testis NOT_TRANSLATED +en The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output HP:0034239 IAO:0000115 nl The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output NOT_TRANSLATED +en The presence of a triangular form of the mouth HP:0000207 IAO:0000115 nl The presence of a triangular form of the mouth NOT_TRANSLATED +en The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases HP:0001153 IAO:0000115 nl The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases NOT_TRANSLATED +en The presence of a xenobiotic in blood HP:0410172 IAO:0000115 nl The presence of a xenobiotic in blood NOT_TRANSLATED +en The presence of a xenobiotic in urine HP:0031840 IAO:0000115 nl The presence of a xenobiotic in urine NOT_TRANSLATED +en The presence of abnormal calcium deposition in the liver HP:0006559 IAO:0000115 nl The presence of abnormal calcium deposition in the liver NOT_TRANSLATED +en The presence of abnormal calcium deposition lesions in the pancreas HP:0005213 IAO:0000115 nl The presence of abnormal calcium deposition lesions in the pancreas NOT_TRANSLATED +en The presence of abnormal calcium deposition of the intervertebral disk HP:0005645 IAO:0000115 nl The presence of abnormal calcium deposition of the intervertebral disk NOT_TRANSLATED +en The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials HP:0003458 IAO:0000115 nl The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials NOT_TRANSLATED +en The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers HP:0003755 IAO:0000115 nl The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses HP:0010655 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period HP:0005756 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb HP:0009695 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones HP:0008131 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna HP:0006370 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers HP:0010237 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes HP:0010171 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger HP:0009497 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe HP:0100053 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger HP:0009419 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe HP:0100064 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger HP:0009402 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe HP:0100075 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger HP:0009391 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe HP:0100086 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe HP:0100144 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe HP:0100178 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe HP:0100211 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux HP:0010147 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone HP:0010024 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux HP:0010122 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals HP:0009195 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe HP:0100155 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe HP:0100189 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe HP:0100222 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe HP:0100166 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe HP:0100200 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe HP:0100233 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux HP:0010136 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus HP:0004695 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger HP:0009511 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe HP:0100109 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger HP:0009344 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger HP:0009259 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger HP:0009165 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb HP:0009684 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe HP:0100120 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger HP:0009330 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger HP:0009223 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger HP:0009212 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe HP:0100131 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger HP:0009355 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger HP:0009270 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger HP:0009201 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009673 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis HP:0003902 IAO:0000115 nl The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis NOT_TRANSLATED +en The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter HP:0031386 IAO:0000115 nl The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter NOT_TRANSLATED +en The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow HP:0031387 IAO:0000115 nl The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow NOT_TRANSLATED +en The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy HP:0000870 IAO:0000115 nl The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy NOT_TRANSLATED +en The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation HP:0032499 IAO:0000115 nl The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation NOT_TRANSLATED +en The presence of abnormally large testes HP:0000053 IAO:0000115 nl The presence of abnormally large testes NOT_TRANSLATED +en The presence of abnormally shaped erythrocytes HP:0004447 IAO:0000115 nl The presence of abnormally shaped erythrocytes NOT_TRANSLATED +en The presence of abnormally small extremities HP:0002983 IAO:0000115 nl The presence of abnormally small extremities NOT_TRANSLATED +en The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body HP:0011034 IAO:0000115 nl The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body NOT_TRANSLATED +en The presence of amyloid deposition in the nerves of the peripheral nervous system HP:0100292 IAO:0000115 nl The presence of amyloid deposition in the nerves of the peripheral nervous system NOT_TRANSLATED +en The presence of amyloid deposition in the superficial dermis HP:0012309 IAO:0000115 nl The presence of amyloid deposition in the superficial dermis NOT_TRANSLATED +en The presence of an abnormal connection between the urethra and another organ or the skin HP:0010480 IAO:0000115 nl The presence of an abnormal connection between the urethra and another organ or the skin NOT_TRANSLATED +en The presence of an abnormal curvature of the cervical vertebral column HP:0005905 IAO:0000115 nl The presence of an abnormal curvature of the cervical vertebral column NOT_TRANSLATED +en The presence of an abnormal curvature of the vertebral column HP:0010674 IAO:0000115 nl The presence of an abnormal curvature of the vertebral column NOT_TRANSLATED +en The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation HP:0003112 IAO:0000115 nl The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation NOT_TRANSLATED +en The presence of an abnormal lateral curvature of the spine HP:0002650 IAO:0000115 nl The presence of an abnormal lateral curvature of the spine NOT_TRANSLATED +en The presence of an abnormal membrane obstructing the urethra HP:0010481 IAO:0000115 nl The presence of an abnormal membrane obstructing the urethra NOT_TRANSLATED +en The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood HP:0001981 IAO:0000115 nl The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood NOT_TRANSLATED +en The presence of an abnormal shape of the palpebral fissure HP:0200005 IAO:0000115 nl The presence of an abnormal shape of the palpebral fissure NOT_TRANSLATED +en The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction HP:0001635 IAO:0000115 nl The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction NOT_TRANSLATED +en The presence of an abnormally increased amount of connective tissue HP:0009025 IAO:0000115 nl The presence of an abnormally increased amount of connective tissue NOT_TRANSLATED +en The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body HP:0009003 IAO:0000115 nl The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body NOT_TRANSLATED +en The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine HP:0008353 IAO:0000115 nl The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine NOT_TRANSLATED +en The presence of an abnormally large pelvis HP:0010779 IAO:0000115 nl The presence of an abnormally large pelvis NOT_TRANSLATED +en The presence of an abnormally large skull with onset at birth HP:0004488 IAO:0000115 nl The presence of an abnormally large skull with onset at birth NOT_TRANSLATED +en The presence of an abnormally prominent antihelix HP:0000395 IAO:0000115 nl The presence of an abnormally prominent antihelix NOT_TRANSLATED +en The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix HP:0009899 IAO:0000115 nl The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix NOT_TRANSLATED +en The presence of an abnormally short lingual frenulum HP:0000200 IAO:0000115 nl The presence of an abnormally short lingual frenulum NOT_TRANSLATED +en The presence of an abnormally thick calvaria HP:0002684 IAO:0000115 nl The presence of an abnormally thick calvaria NOT_TRANSLATED +en The presence of an abnormally thin calvarium HP:0010539 IAO:0000115 nl The presence of an abnormally thin calvarium NOT_TRANSLATED +en The presence of an abscess located around the anus HP:0009789 IAO:0000115 nl The presence of an abscess located around the anus NOT_TRANSLATED +en The presence of an abscess of the liver HP:0100523 IAO:0000115 nl The presence of an abscess of the liver NOT_TRANSLATED +en The presence of an abscess of the peritoneum HP:0100592 IAO:0000115 nl The presence of an abscess of the peritoneum NOT_TRANSLATED +en The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name) HP:0010774 IAO:0000115 nl The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name) NOT_TRANSLATED +en The presence of an adenocarcinoma of the pancreas HP:0006725 IAO:0000115 nl The presence of an adenocarcinoma of the pancreas NOT_TRANSLATED +en The presence of an adenoma in the cortex of the kidney HP:0006735 IAO:0000115 nl The presence of an adenoma in the cortex of the kidney NOT_TRANSLATED +en The presence of an adenoma of the pancreas with origin in a pancreatic B cell HP:0008261 IAO:0000115 nl The presence of an adenoma of the pancreas with origin in a pancreatic B cell NOT_TRANSLATED +en The presence of an altered number of of permanent teeth HP:0011044 IAO:0000115 nl The presence of an altered number of of permanent teeth NOT_TRANSLATED +en The presence of an altered number of of teeth HP:0006483 IAO:0000115 nl The presence of an altered number of of teeth NOT_TRANSLATED +en The presence of an altered number of the incisor teeth HP:0011064 IAO:0000115 nl The presence of an altered number of the incisor teeth NOT_TRANSLATED +en The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues HP:0030057 IAO:0000115 nl The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues NOT_TRANSLATED +en The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues HP:0032265 IAO:0000115 nl The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues NOT_TRANSLATED +en The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues HP:0033629 IAO:0000115 nl The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues NOT_TRANSLATED +en The presence of an aortic valve with four instead of the normal three cusps (flaps) HP:0031655 IAO:0000115 nl The presence of an aortic valve with four instead of the normal three cusps (flaps) NOT_TRANSLATED +en The presence of an aortic valve with one instead of the normal three cusps (flaps) HP:0012561 IAO:0000115 nl The presence of an aortic valve with one instead of the normal three cusps (flaps) NOT_TRANSLATED +en The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps) HP:0001647 IAO:0000115 nl The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps) NOT_TRANSLATED +en The presence of an asymmetric mouth HP:0009941 IAO:0000115 nl The presence of an asymmetric mouth NOT_TRANSLATED +en The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg HP:0410260 IAO:0000115 nl The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg NOT_TRANSLATED +en The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens HP:0032414 IAO:0000115 nl The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens NOT_TRANSLATED +en The presence of an embryonal neoplasm of the kidney that primarily affects children HP:0011794 IAO:0000115 nl The presence of an embryonal neoplasm of the kidney that primarily affects children NOT_TRANSLATED +en The presence of an ependymoma of the central nervous system HP:0002888 IAO:0000115 nl The presence of an ependymoma of the central nervous system NOT_TRANSLATED +en The presence of an excessive amount of fluid in the pleural cavity HP:0002202 IAO:0000115 nl The presence of an excessive amount of fluid in the pleural cavity NOT_TRANSLATED +en The presence of an extra auricle on one or both sides of the head HP:0100687 IAO:0000115 nl The presence of an extra auricle on one or both sides of the head NOT_TRANSLATED +en The presence of an extra nail on the palmar (volar, ventral) surface of the finger HP:0033976 IAO:0000115 nl The presence of an extra nail on the palmar (volar, ventral) surface of the finger NOT_TRANSLATED +en The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle HP:0031933 IAO:0000115 nl The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle NOT_TRANSLATED +en The presence of an follicular adenocarcinoma of the thyroid gland HP:0006731 IAO:0000115 nl The presence of an follicular adenocarcinoma of the thyroid gland NOT_TRANSLATED +en The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies HP:0100293 IAO:0000115 nl The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies NOT_TRANSLATED +en The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms HP:0100678 IAO:0000115 nl The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms NOT_TRANSLATED +en The presence of an increased mass of red blood cells in the circulation HP:0001898 IAO:0000115 nl The presence of an increased mass of red blood cells in the circulation NOT_TRANSLATED +en The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin HP:0001480 IAO:0000115 nl The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin NOT_TRANSLATED +en The presence of an increased number of mast cells and CD34+ mast cell precursors in the body HP:0100495 IAO:0000115 nl The presence of an increased number of mast cells and CD34+ mast cell precursors in the body NOT_TRANSLATED +en The presence of an increased number of twists and turns of lymphatic vessels HP:0033986 IAO:0000115 nl The presence of an increased number of twists and turns of lymphatic vessels NOT_TRANSLATED +en The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules) HP:0007768 IAO:0000115 nl The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules) NOT_TRANSLATED +en The presence of an increased number of twists and turns of the conjunctival blood vessels HP:0000503 IAO:0000115 nl The presence of an increased number of twists and turns of the conjunctival blood vessels NOT_TRANSLATED +en The presence of an increased number of twists and turns of the retinal arterioles HP:0001136 IAO:0000115 nl The presence of an increased number of twists and turns of the retinal arterioles NOT_TRANSLATED +en The presence of an increased number of twists and turns of the retinal artery HP:0000631 IAO:0000115 nl The presence of an increased number of twists and turns of the retinal artery NOT_TRANSLATED +en The presence of an increased number of twists and turns of the retinal blood vessels HP:0012841 IAO:0000115 nl The presence of an increased number of twists and turns of the retinal blood vessels NOT_TRANSLATED +en The presence of an increased number of twists and turns of the temporal artery HP:0030165 IAO:0000115 nl The presence of an increased number of twists and turns of the temporal artery NOT_TRANSLATED +en The presence of an infectious agent in the blood circulation HP:0031863 IAO:0000115 nl The presence of an infectious agent in the blood circulation NOT_TRANSLATED +en The presence of an odontoma HP:0011068 IAO:0000115 nl The presence of an odontoma NOT_TRANSLATED +en The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight HP:0001761 IAO:0000115 nl The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight NOT_TRANSLATED +en The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna HP:0033140 IAO:0000115 nl The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna NOT_TRANSLATED +en The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization HP:0025569 IAO:0000115 nl The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization NOT_TRANSLATED +en The presence of any abnormality affecting the abdominal wall HP:0004298 IAO:0000115 nl The presence of any abnormality affecting the abdominal wall NOT_TRANSLATED +en The presence of any abnormality of the genitourinary system HP:0000119 IAO:0000115 nl The presence of any abnormality of the genitourinary system NOT_TRANSLATED +en The presence of aplasia or developmental hypoplasia of all or part of the external ear HP:0008772 IAO:0000115 nl The presence of aplasia or developmental hypoplasia of all or part of the external ear NOT_TRANSLATED +en The presence of aplasia or developmental hypoplasia of the ear HP:0008771 IAO:0000115 nl The presence of aplasia or developmental hypoplasia of the ear NOT_TRANSLATED +en The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column HP:0008480 IAO:0000115 nl The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column NOT_TRANSLATED +en The presence of asymmetric developmental dysplasia of the radius HP:0006420 IAO:0000115 nl The presence of asymmetric developmental dysplasia of the radius NOT_TRANSLATED +en The presence of asymmetrical breasts HP:0010312 IAO:0000115 nl The presence of asymmetrical breasts NOT_TRANSLATED +en The presence of atheromas or atherosclerotic plaques in the aorta HP:0012397 IAO:0000115 nl The presence of atheromas or atherosclerotic plaques in the aorta NOT_TRANSLATED +en The presence of atrophy (wasting) of the cerebral white matter HP:0012762 IAO:0000115 nl The presence of atrophy (wasting) of the cerebral white matter NOT_TRANSLATED +en The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain HP:0007369 IAO:0000115 nl The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain NOT_TRANSLATED +en The presence of atrophy (wasting) of the corpus callosum HP:0007371 IAO:0000115 nl The presence of atrophy (wasting) of the corpus callosum NOT_TRANSLATED +en The presence of atrophy (wasting) of the posterior portion of the corpus callosum HP:0034007 IAO:0000115 nl The presence of atrophy (wasting) of the posterior portion of the corpus callosum NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin HP:5000002 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23 HP:0034089 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q HP:0034077 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A HP:0034078 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B HP:0034079 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1 HP:0034137 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum HP:5000006 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII) HP:5000004 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3 HP:5000008 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside HP:0034124 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182 HP:0034109 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury HP:0030208 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1 HP:0034110 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin HP:5000012 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR) HP:5000014 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3 HP:5000015 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu HP:5000016 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12 HP:0034115 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki HP:0034154 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku HP:0034088 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3 HP:0034111 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma HP:5000021 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1 HP:5000023 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2 HP:5000022 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155 HP:0034135 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186 HP:0034136 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2 HP:0034142 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90 HP:0034083 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs) HP:5000027 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100 HP:0034085 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75 HP:0034086 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26) HP:5000003 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody HP:5000030 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21 HP:0034093 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60 HP:0034144 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2 HP:0034090 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE HP:0034139 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1 HP:0034140 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2 HP:0034141 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells HP:5000033 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5 HP:5000031 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor HP:5000042 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2 HP:0034106 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside HP:0034128 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside HP:0034131 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67 HP:5000036 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To HP:0034081 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr HP:5000034 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP HP:0034087 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP HP:0034080 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1 HP:0034108 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo HP:5000037 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4) HP:5000039 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C) HP:0034017 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR) HP:0034018 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA) HP:0034016 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A) HP:0034019 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B) HP:0034022 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme HP:0034147 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase HP:0034145 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1 HP:0034094 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2 HP:0034117 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V HP:0034101 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5) HP:5000000 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) HP:5000001 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1 HP:0034138 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase HP:0034151 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2 HP:0034082 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H HP:0034001 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2) HP:5000005 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide HP:0034092 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A) HP:0034153 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX) HP:5000007 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor HP:5000043 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2) HP:0033637 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor HP:0034095 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase HP:0033565 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R HP:5000009 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R HP:5000010 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a HP:0034121 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2 HP:0034132 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3 HP:0034133 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4 HP:0034134 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b HP:0034122 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP) HP:5000013 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2) HP:5000044 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65) HP:5000011 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase HP:0034146 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1 HP:0034114 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase HP:0034152 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5) HP:5000017 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1) HP:5000018 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase HP:0034148 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11) HP:5000019 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1) HP:5000020 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4) HP:5000046 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1) HP:5000024 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5) HP:5000025 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B) HP:5000028 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha HP:5000026 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase HP:0034104 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53 HP:0034107 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase HP:0034149 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid HP:0034096 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline HP:0034097 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine HP:0034084 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol HP:0034098 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol HP:0034099 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine HP:0034100 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor HP:0034091 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma HP:5000029 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po HP:0034076 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor HP:5000047 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2) HP:5000032 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids HP:0034102 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46) HP:5000035 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor HP:0034002 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4 HP:5000048 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase HP:0034143 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody HP:0034116 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin HP:5000038 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma HP:0034105 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6 HP:4000026 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase HP:0034150 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement HP:0034257 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor HP:0032266 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase HP:0034071 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against BP230 HP:4000019 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against BP230 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb) HP:0030888 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion HP:4000028 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180 HP:4000027 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2) HP:0030908 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction HP:0030909 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane HP:4000024 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth HP:4000025 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle HP:0033713 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4 HP:0033342 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II HP:0033394 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI HP:0034066 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII HP:4000031 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583) HP:0034055 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule HP:4000013 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule HP:4000014 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1 HP:4000017 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II HP:4000018 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA HP:0020151 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes HP:0034070 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions HP:4000015 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin HP:4000029 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase HP:0025329 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210 HP:0033562 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against insulin HP:0034062 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against insulin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin HP:0033395 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1 HP:4000023 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332 HP:4000021 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6 HP:4000022 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria HP:0030167 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab) HP:0030210 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG) HP:0025629 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG) NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62 HP:0033556 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein HP:0034069 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin HP:4000016 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide HP:0034068 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin HP:4000030 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein HP:0034064 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins HP:0034155 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase HP:0034061 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor HP:0032264 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components HP:0030873 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor HP:0031104 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions HP:0034158 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase HP:0025379 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone HP:0034189 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase HP:0033563 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I HP:0030859 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2 HP:0034063 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels HP:0030209 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8 HP:0034065 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8 NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides HP:0031810 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides NOT_TRANSLATED +en The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin HP:0032069 IAO:0000115 nl The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens HP:0032235 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens HP:0033555 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies HP:0033561 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. nBPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against histone H1 HP:0033572 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against histone H1 NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against histone H2A HP:0033575 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against histone H2A NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against histone H2B HP:0033576 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against histone H2B NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against histone H3 HP:0033574 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against histone H3 NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against histone H4 HP:0033573 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against histone H4 NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against histone antigens HP:0033558 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against histone antigens NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against myeloperoxidase HP:0033559 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against myeloperoxidase NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils HP:0033557 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer HP:0033593 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer HP:0033592 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer NOT_TRANSLATED +en The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen HP:0033554 IAO:0000115 nl The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen NOT_TRANSLATED +en The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution HP:0033476 IAO:0000115 nl The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution NOT_TRANSLATED +en The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor HP:0020050 IAO:0000115 nl The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor NOT_TRANSLATED +en The presence of autoantibodies in the serum that react against neutrophils HP:0003453 IAO:0000115 nl The presence of autoantibodies in the serum that react against neutrophils NOT_TRANSLATED +en The presence of autoantibodies in the serum that react against nuclei or nuclear components HP:0003493 IAO:0000115 nl The presence of autoantibodies in the serum that react against nuclei or nuclear components NOT_TRANSLATED +en The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils HP:0032230 IAO:0000115 nl The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils NOT_TRANSLATED +en The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils HP:0032229 IAO:0000115 nl The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils NOT_TRANSLATED +en The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5) HP:0033033 IAO:0000115 nl The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5) NOT_TRANSLATED +en The presence of autoantibodies in the serum that react to RNA-polymerase III HP:0033038 IAO:0000115 nl The presence of autoantibodies in the serum that react to RNA-polymerase III NOT_TRANSLATED +en The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles HP:0033040 IAO:0000115 nl The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles NOT_TRANSLATED +en The presence of autoantibodies in the serum that react to the glomerular basement membrane HP:0033030 IAO:0000115 nl The presence of autoantibodies in the serum that react to the glomerular basement membrane NOT_TRANSLATED +en The presence of axonal regeneration following a previous axonal lesion HP:0003450 IAO:0000115 nl The presence of axonal regeneration following a previous axonal lesion NOT_TRANSLATED +en The presence of bacteria in the urine HP:0012461 IAO:0000115 nl The presence of bacteria in the urine NOT_TRANSLATED +en The presence of bilateral coxa valga HP:0010665 IAO:0000115 nl The presence of bilateral coxa valga NOT_TRANSLATED +en The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney HP:0032587 IAO:0000115 nl The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney NOT_TRANSLATED +en The presence of blood in the pleural space HP:0012151 IAO:0000115 nl The presence of blood in the pleural space NOT_TRANSLATED +en The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine) HP:0000790 IAO:0000115 nl The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine) NOT_TRANSLATED +en The presence of bone fractures in the prenatal period that are diagnosed at birth or before HP:0005855 IAO:0000115 nl The presence of bone fractures in the prenatal period that are diagnosed at birth or before NOT_TRANSLATED +en The presence of both a left and a right ductus arteriosus HP:0011650 IAO:0000115 nl The presence of both a left and a right ductus arteriosus NOT_TRANSLATED +en The presence of both a prominent heel and a convex contour of the sole HP:0001838 IAO:0000115 nl The presence of both a prominent heel and a convex contour of the sole NOT_TRANSLATED +en The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism HP:0010459 IAO:0000115 nl The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism NOT_TRANSLATED +en The presence of calcium carbonate crystals in the urine HP:0020146 IAO:0000115 nl The presence of calcium carbonate crystals in the urine NOT_TRANSLATED +en The presence of calcium deposition affecting one or more structures of the basal ganglia HP:0002135 IAO:0000115 nl The presence of calcium deposition affecting one or more structures of the basal ganglia NOT_TRANSLATED +en The presence of calcium deposition in cartilage HP:0100593 IAO:0000115 nl The presence of calcium deposition in cartilage NOT_TRANSLATED +en The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles HP:0007229 IAO:0000115 nl The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles NOT_TRANSLATED +en The presence of calcium deposition in the choroid plexus HP:0006960 IAO:0000115 nl The presence of calcium deposition in the choroid plexus NOT_TRANSLATED +en The presence of calcium deposition in the falx cerebri HP:0005462 IAO:0000115 nl The presence of calcium deposition in the falx cerebri NOT_TRANSLATED +en The presence of calcium deposition in the spinal cord HP:0034484 IAO:0000115 nl The presence of calcium deposition in the spinal cord NOT_TRANSLATED +en The presence of calcium deposition within brain structures HP:0002514 IAO:0000115 nl The presence of calcium deposition within brain structures NOT_TRANSLATED +en The presence of calcium deposition within brain structures that is present already at the time of birth HP:0006906 IAO:0000115 nl The presence of calcium deposition within brain structures that is present already at the time of birth NOT_TRANSLATED +en The presence of calcium deposition within the temporal lobe of the brain HP:0034293 IAO:0000115 nl The presence of calcium deposition within the temporal lobe of the brain NOT_TRANSLATED +en The presence of calcium oxalate crystals in the urine HP:0020145 IAO:0000115 nl The presence of calcium oxalate crystals in the urine NOT_TRANSLATED +en The presence of calcium phosphate crystals in the urine HP:0020144 IAO:0000115 nl The presence of calcium phosphate crystals in the urine NOT_TRANSLATED +en The presence of calcium- and oxalate-containing calculi (stones) in the kidneys HP:0008672 IAO:0000115 nl The presence of calcium- and oxalate-containing calculi (stones) in the kidneys NOT_TRANSLATED +en The presence of calcium- and phosphate-containing calculi (stones) in the kidneys HP:0012580 IAO:0000115 nl The presence of calcium- and phosphate-containing calculi (stones) in the kidneys NOT_TRANSLATED +en The presence of calcium-containing calculi (stones) in the kidneys HP:0004724 IAO:0000115 nl The presence of calcium-containing calculi (stones) in the kidneys NOT_TRANSLATED +en The presence of calculi (stones) in the kidneys HP:0000787 IAO:0000115 nl The presence of calculi (stones) in the kidneys NOT_TRANSLATED +en The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage HP:0030330 IAO:0000115 nl The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage NOT_TRANSLATED +en The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules HP:0032630 IAO:0000115 nl The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules NOT_TRANSLATED +en The presence of cell death (necrosis) affecting the liver HP:0002605 IAO:0000115 nl The presence of cell death (necrosis) affecting the liver NOT_TRANSLATED +en The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material HP:0007802 IAO:0000115 nl The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material NOT_TRANSLATED +en The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight) HP:0009878 IAO:0000115 nl The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight) NOT_TRANSLATED +en The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials) HP:0003445 IAO:0000115 nl The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials) NOT_TRANSLATED +en The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks HP:0002028 IAO:0000115 nl The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks NOT_TRANSLATED +en The presence of chronic increased pressure in the systemic arterial system HP:0000822 IAO:0000115 nl The presence of chronic increased pressure in the systemic arterial system NOT_TRANSLATED +en The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus HP:0025677 IAO:0000115 nl The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus NOT_TRANSLATED +en The presence of circulating IgG autoantibodies to cardiolipin HP:0020136 IAO:0000115 nl The presence of circulating IgG autoantibodies to cardiolipin NOT_TRANSLATED +en The presence of circulating IgM autoantibodies to cardiolipin HP:0020137 IAO:0000115 nl The presence of circulating IgM autoantibodies to cardiolipin NOT_TRANSLATED +en The presence of circulating autoantibodies to anticardiolipin in the mother HP:0012536 IAO:0000115 nl The presence of circulating autoantibodies to anticardiolipin in the mother NOT_TRANSLATED +en The presence of circulating autoantibodies to phospholipids HP:0003613 IAO:0000115 nl The presence of circulating autoantibodies to phospholipids NOT_TRANSLATED +en The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm HP:0001922 IAO:0000115 nl The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm NOT_TRANSLATED +en The presence of complement 3 deposits in the glomerulus HP:0012576 IAO:0000115 nl The presence of complement 3 deposits in the glomerulus NOT_TRANSLATED +en The presence of complexes of repetitive spikes and waves in EEG HP:0002392 IAO:0000115 nl The presence of complexes of repetitive spikes and waves in EEG NOT_TRANSLATED +en The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG) HP:0010847 IAO:0000115 nl The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG) NOT_TRANSLATED +en The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG) HP:0010848 IAO:0000115 nl The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG) NOT_TRANSLATED +en The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG) HP:0010849 IAO:0000115 nl The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG) NOT_TRANSLATED +en The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction HP:0010541 IAO:0000115 nl The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction NOT_TRANSLATED +en The presence of crystals in the urine HP:0020074 IAO:0000115 nl The presence of crystals in the urine NOT_TRANSLATED +en The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus HP:0032648 IAO:0000115 nl The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus NOT_TRANSLATED +en The presence of cyst of the intrahepatic bile duct HP:0005209 IAO:0000115 nl The presence of cyst of the intrahepatic bile duct NOT_TRANSLATED +en The presence of degenerative changes of intervertebral disk HP:0008419 IAO:0000115 nl The presence of degenerative changes of intervertebral disk NOT_TRANSLATED +en The presence of degenerative changes of the liver HP:0005237 IAO:0000115 nl The presence of degenerative changes of the liver NOT_TRANSLATED +en The presence of developmental dysplasia of the cerebral cortex HP:0002539 IAO:0000115 nl The presence of developmental dysplasia of the cerebral cortex NOT_TRANSLATED +en The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe HP:0006930 IAO:0000115 nl The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe NOT_TRANSLATED +en The presence of developmental dysplasia of the femoral head HP:0010575 IAO:0000115 nl The presence of developmental dysplasia of the femoral head NOT_TRANSLATED +en The presence of developmental dysplasia of the hip HP:0001385 IAO:0000115 nl The presence of developmental dysplasia of the hip NOT_TRANSLATED +en The presence of developmental dysplasia of the kidney HP:0000110 IAO:0000115 nl The presence of developmental dysplasia of the kidney NOT_TRANSLATED +en The presence of developmental dysplasia of the nail HP:0002164 IAO:0000115 nl The presence of developmental dysplasia of the nail NOT_TRANSLATED +en The presence of developmental dysplasia of the optic nerve HP:0001093 IAO:0000115 nl The presence of developmental dysplasia of the optic nerve NOT_TRANSLATED +en The presence of developmental dysplasia of the pancreas HP:0005232 IAO:0000115 nl The presence of developmental dysplasia of the pancreas NOT_TRANSLATED +en The presence of developmental dysplasia of the retina HP:0007973 IAO:0000115 nl The presence of developmental dysplasia of the retina NOT_TRANSLATED +en The presence of developmental dysplasia of the vertebral column HP:0008423 IAO:0000115 nl The presence of developmental dysplasia of the vertebral column NOT_TRANSLATED +en The presence of dilatation of the renal pelvis HP:0010946 IAO:0000115 nl The presence of dilatation of the renal pelvis NOT_TRANSLATED +en The presence of discolored lateral incisors HP:0006290 IAO:0000115 nl The presence of discolored lateral incisors NOT_TRANSLATED +en The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric HP:0030230 IAO:0000115 nl The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric NOT_TRANSLATED +en The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone HP:0007818 IAO:0000115 nl The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone NOT_TRANSLATED +en The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria HP:0032957 IAO:0000115 nl The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria NOT_TRANSLATED +en The presence of dysplastic regions in metaphyseal regions HP:0100255 IAO:0000115 nl The presence of dysplastic regions in metaphyseal regions NOT_TRANSLATED +en The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend HP:0010517 IAO:0000115 nl The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend NOT_TRANSLATED +en The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear HP:0004445 IAO:0000115 nl The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear NOT_TRANSLATED +en The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space HP:0033397 IAO:0000115 nl The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space NOT_TRANSLATED +en The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia HP:0032071 IAO:0000115 nl The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia NOT_TRANSLATED +en The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye HP:0031702 IAO:0000115 nl The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye NOT_TRANSLATED +en The presence of erythrocytes that are sphere-shaped HP:0004444 IAO:0000115 nl The presence of erythrocytes that are sphere-shaped NOT_TRANSLATED +en The presence of erythrocytes that are sphere-shaped and reduced in size HP:0004835 IAO:0000115 nl The presence of erythrocytes that are sphere-shaped and reduced in size NOT_TRANSLATED +en The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear HP:0004446 IAO:0000115 nl The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear NOT_TRANSLATED +en The presence of excess amniotic fluid in the uterus during pregnancy HP:0001561 IAO:0000115 nl The presence of excess amniotic fluid in the uterus during pregnancy NOT_TRANSLATED +en The presence of excessive connective tissue in the endocardium HP:0006685 IAO:0000115 nl The presence of excessive connective tissue in the endocardium NOT_TRANSLATED +en The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process HP:0001395 IAO:0000115 nl The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process NOT_TRANSLATED +en The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process HP:0030937 IAO:0000115 nl The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process NOT_TRANSLATED +en The presence of excessive redundant myelin in the peripheral nerve sheath HP:0004336 IAO:0000115 nl The presence of excessive redundant myelin in the peripheral nerve sheath NOT_TRANSLATED +en The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium HP:0002645 IAO:0000115 nl The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium NOT_TRANSLATED +en The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin HP:0031324 IAO:0000115 nl The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin NOT_TRANSLATED +en The presence of female external genitalia in a person with a male karyotype HP:0008730 IAO:0000115 nl The presence of female external genitalia in a person with a male karyotype NOT_TRANSLATED +en The presence of fewer than normal sweat glands HP:0007500 IAO:0000115 nl The presence of fewer than normal sweat glands NOT_TRANSLATED +en The presence of fibromata beneath finger or toenails HP:0009724 IAO:0000115 nl The presence of fibromata beneath finger or toenails NOT_TRANSLATED +en The presence of fibrosis affecting the interlobular stroma of liver HP:0001405 IAO:0000115 nl The presence of fibrosis affecting the interlobular stroma of liver NOT_TRANSLATED +en The presence of fibrosis of that part of the liver with congenital onset HP:0002612 IAO:0000115 nl The presence of fibrosis of that part of the liver with congenital onset NOT_TRANSLATED +en The presence of fibrosis of the gingiva HP:0000169 IAO:0000115 nl The presence of fibrosis of the gingiva NOT_TRANSLATED +en The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea HP:0001149 IAO:0000115 nl The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea NOT_TRANSLATED +en The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance HP:0004333 IAO:0000115 nl The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance NOT_TRANSLATED +en The presence of foam cells that contain lamellar inclusion bodies HP:0003609 IAO:0000115 nl The presence of foam cells that contain lamellar inclusion bodies NOT_TRANSLATED +en The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system HP:0003640 IAO:0000115 nl The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system NOT_TRANSLATED +en The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver HP:0034029 IAO:0000115 nl The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver NOT_TRANSLATED +en The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance HP:0003651 IAO:0000115 nl The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance NOT_TRANSLATED +en The presence of free air in the mediastinum HP:0025421 IAO:0000115 nl The presence of free air in the mediastinum NOT_TRANSLATED +en The presence of free hemoglobin in the urine HP:0003641 IAO:0000115 nl The presence of free hemoglobin in the urine NOT_TRANSLATED +en The presence of free monoclonal immunoglobulin light chains in the urine HP:0030156 IAO:0000115 nl The presence of free monoclonal immunoglobulin light chains in the urine NOT_TRANSLATED +en The presence of free monoclonal kappa immunoglobulin light chains in the urine HP:0032302 IAO:0000115 nl The presence of free monoclonal kappa immunoglobulin light chains in the urine NOT_TRANSLATED +en The presence of free monoclonal lambda immunoglobulin light chains in the urine HP:0032303 IAO:0000115 nl The presence of free monoclonal lambda immunoglobulin light chains in the urine NOT_TRANSLATED +en The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations HP:0001442 IAO:0000115 nl The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations NOT_TRANSLATED +en The presence of hemorrhage within the body HP:0011029 IAO:0000115 nl The presence of hemorrhage within the body NOT_TRANSLATED +en The presence of hemosiderin in the urine HP:0012543 IAO:0000115 nl The presence of hemosiderin in the urine NOT_TRANSLATED +en The presence of high titers of antigen-precipitating IgG in the serum HP:0033039 IAO:0000115 nl The presence of high titers of antigen-precipitating IgG in the serum NOT_TRANSLATED +en The presence of hypertension related to stenosis of the renal artery HP:0100817 IAO:0000115 nl The presence of hypertension related to stenosis of the renal artery NOT_TRANSLATED +en The presence of hypertrophy of the breast HP:0010313 IAO:0000115 nl The presence of hypertrophy of the breast NOT_TRANSLATED +en The presence of immunoglobulin A deposits in the glomerulus HP:0000794 IAO:0000115 nl The presence of immunoglobulin A deposits in the glomerulus NOT_TRANSLATED +en The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin HP:0034519 IAO:0000115 nl The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin NOT_TRANSLATED +en The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins HP:0100303 IAO:0000115 nl The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins NOT_TRANSLATED +en The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins HP:0100304 IAO:0000115 nl The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins NOT_TRANSLATED +en The presence of inflammation affecting the kidney HP:0000123 IAO:0000115 nl The presence of inflammation affecting the kidney NOT_TRANSLATED +en The presence of inflammation in the pancreas HP:0001733 IAO:0000115 nl The presence of inflammation in the pancreas NOT_TRANSLATED +en The presence of inflammation of the epididymis HP:0000031 IAO:0000115 nl De aanwezigheid van ontsteking van de bijbal CANDIDATE +en The presence of inflammation of the gastric mucous membrane HP:0005263 IAO:0000115 nl The presence of inflammation of the gastric mucous membrane NOT_TRANSLATED +en The presence of inflammation of the prostate HP:0000024 IAO:0000115 nl The presence of inflammation of the prostate NOT_TRANSLATED +en The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes HP:0011123 IAO:0000115 nl The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes NOT_TRANSLATED +en The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye HP:0031701 IAO:0000115 nl The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye NOT_TRANSLATED +en The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous HP:0030662 IAO:0000115 nl The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous NOT_TRANSLATED +en The presence of inflammatory changes in the gallbladder HP:0001082 IAO:0000115 nl The presence of inflammatory changes in the gallbladder NOT_TRANSLATED +en The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits HP:0032949 IAO:0000115 nl The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits NOT_TRANSLATED +en The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies HP:0008264 IAO:0000115 nl The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies NOT_TRANSLATED +en The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes HP:0040235 IAO:0000115 nl The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes NOT_TRANSLATED +en The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex HP:0008186 IAO:0000115 nl The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex NOT_TRANSLATED +en The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes HP:0005592 IAO:0000115 nl The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes NOT_TRANSLATED +en The presence of leiomyoma of the skin HP:0007620 IAO:0000115 nl The presence of leiomyoma of the skin NOT_TRANSLATED +en The presence of leiomyosarcoma of the skin HP:0006755 IAO:0000115 nl The presence of leiomyosarcoma of the skin NOT_TRANSLATED +en The presence of leuucine crystals in the urine HP:0020075 IAO:0000115 nl The presence of leuucine crystals in the urine NOT_TRANSLATED +en The presence of linear erythematous palpable cords, often on the lateral trunk HP:0031924 IAO:0000115 nl The presence of linear erythematous palpable cords, often on the lateral trunk NOT_TRANSLATED +en The presence of lymphangiectasis in the pancreas HP:0006273 IAO:0000115 nl The presence of lymphangiectasis in the pancreas NOT_TRANSLATED +en The presence of lymphangiectasis of the thyroid gland HP:0008229 IAO:0000115 nl The presence of lymphangiectasis of the thyroid gland NOT_TRANSLATED +en The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow HP:0034483 IAO:0000115 nl The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow NOT_TRANSLATED +en The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule HP:0100611 IAO:0000115 nl The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule NOT_TRANSLATED +en The presence of many cysts in the kidney HP:0005562 IAO:0000115 nl The presence of many cysts in the kidney NOT_TRANSLATED +en The presence of many cysts in the medulla of the kidney HP:0008659 IAO:0000115 nl The presence of many cysts in the medulla of the kidney NOT_TRANSLATED +en The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus HP:0031385 IAO:0000115 nl The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus NOT_TRANSLATED +en The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus HP:0031388 IAO:0000115 nl The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus NOT_TRANSLATED +en The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei HP:0031689 IAO:0000115 nl The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei NOT_TRANSLATED +en The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma HP:0008327 IAO:0000115 nl The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma NOT_TRANSLATED +en The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree HP:0010960 IAO:0000115 nl The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree NOT_TRANSLATED +en The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol) HP:0033065 IAO:0000115 nl The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol) NOT_TRANSLATED +en The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria HP:0012579 IAO:0000115 nl The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria NOT_TRANSLATED +en The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate HP:0008391 IAO:0000115 nl The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate NOT_TRANSLATED +en The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol) HP:0012594 IAO:0000115 nl The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol) NOT_TRANSLATED +en The presence of more than 12 rib pairs HP:0005815 IAO:0000115 nl The presence of more than 12 rib pairs NOT_TRANSLATED +en The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands HP:0012198 IAO:0000115 nl The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands NOT_TRANSLATED +en The presence of more than the normal number of carpal bones HP:0004232 IAO:0000115 nl The presence of more than the normal number of carpal bones NOT_TRANSLATED +en The presence of more than the normal number of eyelids HP:0430008 IAO:0000115 nl The presence of more than the normal number of eyelids NOT_TRANSLATED +en The presence of more than the normal number of metacarpal bones HP:0005917 IAO:0000115 nl The presence of more than the normal number of metacarpal bones NOT_TRANSLATED +en The presence of more than two nostrils HP:0009934 IAO:0000115 nl The presence of more than two nostrils NOT_TRANSLATED +en The presence of more than two testes HP:0010470 IAO:0000115 nl The presence of more than two testes NOT_TRANSLATED +en The presence of mulitple lipomas located in the central nervous system HP:0100251 IAO:0000115 nl The presence of mulitple lipomas located in the central nervous system NOT_TRANSLATED +en The presence of multiple areas of atresia affecting the small intestine HP:0004797 IAO:0000115 nl The presence of multiple areas of atresia affecting the small intestine NOT_TRANSLATED +en The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease) HP:0006114 IAO:0000115 nl The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease) NOT_TRANSLATED +en The presence of multiple cutaneous neurofibromas HP:0001067 IAO:0000115 nl The presence of multiple cutaneous neurofibromas NOT_TRANSLATED +en The presence of multiple cysts at the border between the renal cortex and medulla HP:0000108 IAO:0000115 nl The presence of multiple cysts at the border between the renal cortex and medulla NOT_TRANSLATED +en The presence of multiple cysts in both kidneys HP:0000113 IAO:0000115 nl The presence of multiple cysts in both kidneys NOT_TRANSLATED +en The presence of multiple deletions of mitochondrial DNA (mtDNA) HP:0003689 IAO:0000115 nl The presence of multiple deletions of mitochondrial DNA (mtDNA) NOT_TRANSLATED +en The presence of multiple diverticula of the colon HP:0002253 IAO:0000115 nl The presence of multiple diverticula of the colon NOT_TRANSLATED +en The presence of multiple diverticula of the intestine HP:0005222 IAO:0000115 nl The presence of multiple diverticula of the intestine NOT_TRANSLATED +en The presence of multiple embedded tooth germs which have failed to erupt HP:0006283 IAO:0000115 nl The presence of multiple embedded tooth germs which have failed to erupt NOT_TRANSLATED +en The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese) HP:0012220 IAO:0000115 nl The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese) NOT_TRANSLATED +en The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage HP:0000918 IAO:0000115 nl The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage NOT_TRANSLATED +en The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes HP:0011955 IAO:0000115 nl The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes NOT_TRANSLATED +en The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung HP:0030250 IAO:0000115 nl The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung NOT_TRANSLATED +en The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium HP:0031325 IAO:0000115 nl The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium NOT_TRANSLATED +en The presence of multiple hemangiomas in the arachnoid HP:0012222 IAO:0000115 nl The presence of multiple hemangiomas in the arachnoid NOT_TRANSLATED +en The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas HP:0007872 IAO:0000115 nl The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas NOT_TRANSLATED +en The presence of multiple impacted teeth HP:0001571 IAO:0000115 nl The presence of multiple impacted teeth NOT_TRANSLATED +en The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps HP:0004784 IAO:0000115 nl The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps NOT_TRANSLATED +en The presence of multiple leiomyomas of the skin HP:0007437 IAO:0000115 nl The presence of multiple leiomyomas of the skin NOT_TRANSLATED +en The presence of multiple lipomas (a type of benign tissue made of fatty tissue) HP:0001012 IAO:0000115 nl The presence of multiple lipomas (a type of benign tissue made of fatty tissue) NOT_TRANSLATED +en The presence of multiple lung cysts HP:0005948 IAO:0000115 nl The presence of multiple lung cysts NOT_TRANSLATED +en The presence of multiple pancreatic islet cell adenomas HP:0008194 IAO:0000115 nl The presence of multiple pancreatic islet cell adenomas NOT_TRANSLATED +en The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot HP:0010612 IAO:0000115 nl The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot NOT_TRANSLATED +en The presence of multiple polyps in the intestine HP:0200008 IAO:0000115 nl The presence of multiple polyps in the intestine NOT_TRANSLATED +en The presence of multiple polyps in the large intestine HP:0030255 IAO:0000115 nl The presence of multiple polyps in the large intestine NOT_TRANSLATED +en The presence of multiple polyps in the small intestine HP:0030256 IAO:0000115 nl The presence of multiple polyps in the small intestine NOT_TRANSLATED +en The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones HP:0003105 IAO:0000115 nl The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones NOT_TRANSLATED +en The presence of multiple rectal hyperplastic/adenomatous polyps HP:0100896 IAO:0000115 nl The presence of multiple rectal hyperplastic/adenomatous polyps NOT_TRANSLATED +en The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage) HP:0030175 IAO:0000115 nl The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage) NOT_TRANSLATED +en The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification HP:0032222 IAO:0000115 nl The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification NOT_TRANSLATED +en The presence of multiple subcutaneous lipoma that cause pain HP:0007596 IAO:0000115 nl The presence of multiple subcutaneous lipoma that cause pain NOT_TRANSLATED +en The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin HP:0025530 IAO:0000115 nl The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin NOT_TRANSLATED +en The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin HP:0000991 IAO:0000115 nl The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin NOT_TRANSLATED +en The presence of nipples that instead of pointing outward are retracted inwards HP:0003186 IAO:0000115 nl The presence of nipples that instead of pointing outward are retracted inwards NOT_TRANSLATED +en The presence of non-malignant hyperplasia of the prostate HP:0008711 IAO:0000115 nl The presence of non-malignant hyperplasia of the prostate NOT_TRANSLATED +en The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism HP:0012475 IAO:0000115 nl The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism NOT_TRANSLATED +en The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides HP:0002848 IAO:0000115 nl The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides NOT_TRANSLATED +en The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci HP:0012476 IAO:0000115 nl The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci NOT_TRANSLATED +en The presence of nucleated red blood cells in the peripheral blood circulation HP:0033281 IAO:0000115 nl The presence of nucleated red blood cells in the peripheral blood circulation NOT_TRANSLATED +en The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls HP:0031464 IAO:0000115 nl The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls NOT_TRANSLATED +en The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls HP:0008066 IAO:0000115 nl The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls NOT_TRANSLATED +en The presence of one or more cysts of the ovary HP:0000138 IAO:0000115 nl The presence of one or more cysts of the ovary NOT_TRANSLATED +en The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining HP:0007812 IAO:0000115 nl The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining NOT_TRANSLATED +en The presence of one or more herniated nucleus pulposus of intervertebral disk HP:0008441 IAO:0000115 nl The presence of one or more herniated nucleus pulposus of intervertebral disk NOT_TRANSLATED +en The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant HP:0008770 IAO:0000115 nl The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant NOT_TRANSLATED +en The presence of one or more teeth additional to the normal number HP:0011069 IAO:0000115 nl The presence of one or more teeth additional to the normal number NOT_TRANSLATED +en The presence of only a single nostril HP:0009932 IAO:0000115 nl The presence of only a single nostril NOT_TRANSLATED +en The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle HP:0001750 IAO:0000115 nl The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle NOT_TRANSLATED +en The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum HP:0010454 IAO:0000115 nl The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum NOT_TRANSLATED +en The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut HP:0006278 IAO:0000115 nl The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut NOT_TRANSLATED +en The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris. HP:0009737 IAO:0000115 nl The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris. NOT_TRANSLATED +en The presence of premature sister chromatid segregation HP:0200024 IAO:0000115 nl The presence of premature sister chromatid segregation NOT_TRANSLATED +en The presence of prolapse of the uterus HP:0000139 IAO:0000115 nl The presence of prolapse of the uterus NOT_TRANSLATED +en The presence of punctiform calcification of the bone of the vertebral bodies HP:0008420 IAO:0000115 nl The presence of punctiform calcification of the bone of the vertebral bodies NOT_TRANSLATED +en The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976) HP:0032099 IAO:0000115 nl The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976) NOT_TRANSLATED +en The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations HP:0000495 IAO:0000115 nl The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations NOT_TRANSLATED +en The presence of reduced conduction velocity of motor nerves on electromyography HP:0100287 IAO:0000115 nl The presence of reduced conduction velocity of motor nerves on electromyography NOT_TRANSLATED +en The presence of reduced numbers of intrahepatic bile duct than normal HP:0006571 IAO:0000115 nl The presence of reduced numbers of intrahepatic bile duct than normal NOT_TRANSLATED +en The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil HP:0009917 IAO:0000115 nl The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil NOT_TRANSLATED +en The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine HP:0012615 IAO:0000115 nl The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine NOT_TRANSLATED +en The presence of renal cell carcinoma in the renal papilla HP:0006766 IAO:0000115 nl The presence of renal cell carcinoma in the renal papilla NOT_TRANSLATED +en The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules HP:0000092 IAO:0000115 nl The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules NOT_TRANSLATED +en The presence of sensorineural deafness with late onset HP:0008615 IAO:0000115 nl The presence of sensorineural deafness with late onset NOT_TRANSLATED +en The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol) HP:0033066 IAO:0000115 nl The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol) NOT_TRANSLATED +en The presence of six or more cafe-au-lait spots HP:0007565 IAO:0000115 nl The presence of six or more cafe-au-lait spots NOT_TRANSLATED +en The presence of skeletal muscular atrophy (which is also known as amyotrophy) HP:0003202 IAO:0000115 nl The presence of skeletal muscular atrophy (which is also known as amyotrophy) NOT_TRANSLATED +en The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva HP:0000524 IAO:0000115 nl The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva NOT_TRANSLATED +en The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate HP:0002707 IAO:0000115 nl The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate NOT_TRANSLATED +en The presence of small depressions in the dental enamel HP:0009722 IAO:0000115 nl The presence of small depressions in the dental enamel NOT_TRANSLATED +en The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy HP:0033571 IAO:0000115 nl The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy NOT_TRANSLATED +en The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits HP:0030672 IAO:0000115 nl The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits NOT_TRANSLATED +en The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding HP:0100288 IAO:0000115 nl The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding NOT_TRANSLATED +en The presence of spots or rounded patches of abnormally increased density of metaphyseal bone HP:0011860 IAO:0000115 nl The presence of spots or rounded patches of abnormally increased density of metaphyseal bone NOT_TRANSLATED +en The presence of squamous cell carcinoma of the skin HP:0002860 IAO:0000115 nl The presence of squamous cell carcinoma of the skin NOT_TRANSLATED +en The presence of stenosis of the renal artery HP:0001920 IAO:0000115 nl The presence of stenosis of the renal artery NOT_TRANSLATED +en The presence of streaks (bands) of abnormally increased density of metaphyseal bone HP:0005092 IAO:0000115 nl The presence of streaks (bands) of abnormally increased density of metaphyseal bone NOT_TRANSLATED +en The presence of subcutaneous lipoma HP:0001031 IAO:0000115 nl The presence of subcutaneous lipoma NOT_TRANSLATED +en The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide HP:0002697 IAO:0000115 nl The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide NOT_TRANSLATED +en The presence of tall, peaked P waves in EKG lead II HP:0031601 IAO:0000115 nl The presence of tall, peaked P waves in EKG lead II NOT_TRANSLATED +en The presence of telangiectases on the skin of palm of hand HP:0100869 IAO:0000115 nl The presence of telangiectases on the skin of palm of hand NOT_TRANSLATED +en The presence of telangiectasia of the ear HP:0009893 IAO:0000115 nl The presence of telangiectasia of the ear NOT_TRANSLATED +en The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern HP:0032200 IAO:0000115 nl The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern NOT_TRANSLATED +en The presence of thrombocytopenia in combination with detection of antiplatelet antibodies HP:0001973 IAO:0000115 nl The presence of thrombocytopenia in combination with detection of antiplatelet antibodies NOT_TRANSLATED +en The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice HP:0031283 IAO:0000115 nl The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice NOT_TRANSLATED +en The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates HP:0025374 IAO:0000115 nl The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates NOT_TRANSLATED +en The presence of two or more accessory spleens HP:0009799 IAO:0000115 nl The presence of two or more accessory spleens NOT_TRANSLATED +en The presence of two to five cafe-au-lait macules HP:0007429 IAO:0000115 nl The presence of two to five cafe-au-lait macules NOT_TRANSLATED +en The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot HP:0001869 IAO:0000115 nl The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot NOT_TRANSLATED +en The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe HP:0008107 IAO:0000115 nl The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe NOT_TRANSLATED +en The presence of uric acid crystals in the urine HP:0032964 IAO:0000115 nl The presence of uric acid crystals in the urine NOT_TRANSLATED +en The presence of uric acid-containing calculi (stones) in the kidneys HP:0000791 IAO:0000115 nl The presence of uric acid-containing calculi (stones) in the kidneys NOT_TRANSLATED +en The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes HP:0033995 IAO:0000115 nl The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes NOT_TRANSLATED +en The presence of varices (enlarged and convoluted blood vessels) in the colon HP:0012550 IAO:0000115 nl The presence of varices (enlarged and convoluted blood vessels) in the colon NOT_TRANSLATED +en The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones HP:0031288 IAO:0000115 nl The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones NOT_TRANSLATED +en The presence of virus in the blood HP:0020071 IAO:0000115 nl The presence of virus in the blood NOT_TRANSLATED +en The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis HP:0007799 IAO:0000115 nl The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis NOT_TRANSLATED +en The presence of whitish spots in a ring-like arrangement at the periphery of the iris HP:0001088 IAO:0000115 nl The presence of whitish spots in a ring-like arrangement at the periphery of the iris NOT_TRANSLATED +en The presence of wide, concave anterior rib ends HP:0000904 IAO:0000115 nl The presence of wide, concave anterior rib ends NOT_TRANSLATED +en The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter HP:0040149 IAO:0000115 nl The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED +en The presence of xanthine-containing calculi (stones) in the kidneys HP:0000804 IAO:0000115 nl The presence of xanthine-containing calculi (stones) in the kidneys NOT_TRANSLATED +en The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows) HP:0010874 IAO:0000115 nl The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows) NOT_TRANSLATED +en The presence of xanthomata in the skin of the eyelid HP:0001114 IAO:0000115 nl The presence of xanthomata in the skin of the eyelid NOT_TRANSLATED +en The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus HP:0002454 IAO:0000115 nl The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus NOT_TRANSLATED +en The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures HP:0033996 IAO:0000115 nl The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures NOT_TRANSLATED +en The presense of molluscum contagiosum lesions across multiple areas of the body HP:0032185 IAO:0000115 nl The presense of molluscum contagiosum lesions across multiple areas of the body NOT_TRANSLATED +en The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant HP:0002476 IAO:0000115 nl The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant NOT_TRANSLATED +en The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms HP:0001978 IAO:0000115 nl The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms NOT_TRANSLATED +en The progressive development of an abnormally large skull HP:0004481 IAO:0000115 nl The progressive development of an abnormally large skull NOT_TRANSLATED +en The prolapse of the female urethra into the vagina HP:0100821 IAO:0000115 nl The prolapse of the female urethra into the vagina NOT_TRANSLATED +en The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia HP:0003337 IAO:0000115 nl The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia NOT_TRANSLATED +en The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively HP:0100348 IAO:0000115 nl The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively NOT_TRANSLATED +en The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively HP:0100349 IAO:0000115 nl The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively NOT_TRANSLATED +en The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively HP:0100350 IAO:0000115 nl The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively NOT_TRANSLATED +en The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively HP:0100351 IAO:0000115 nl The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively NOT_TRANSLATED +en The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination HP:0032554 IAO:0000115 nl The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination NOT_TRANSLATED +en The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination HP:0031271 IAO:0000115 nl The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination NOT_TRANSLATED +en The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung HP:0032008 IAO:0000115 nl The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung NOT_TRANSLATED +en The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body HP:0031922 IAO:0000115 nl The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body NOT_TRANSLATED +en The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture) HP:0002757 IAO:0000115 nl The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture) NOT_TRANSLATED +en The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina HP:0500050 IAO:0000115 nl The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina NOT_TRANSLATED +en The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole HP:0010444 IAO:0000115 nl The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole NOT_TRANSLATED +en The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter HP:0001591 IAO:0000115 nl The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter NOT_TRANSLATED +en The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta HP:0031636 IAO:0000115 nl The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta NOT_TRANSLATED +en The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery HP:0005143 IAO:0000115 nl The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery NOT_TRANSLATED +en The ring may be completed by the ductal ligament HP:0011596 IAO:0000115 nl The ring may be completed by the ductal ligament NOT_TRANSLATED +en The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch HP:0008798 IAO:0000115 nl The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch NOT_TRANSLATED +en The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch HP:0003185 IAO:0000115 nl The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch NOT_TRANSLATED +en The sensation that thoughts are moving too quickly HP:0033844 IAO:0000115 nl The sensation that thoughts are moving too quickly NOT_TRANSLATED +en The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane HP:0030708 IAO:0000115 nl The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane NOT_TRANSLATED +en The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders HP:0003547 IAO:0000115 nl The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders NOT_TRANSLATED +en The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette HP:0033647 IAO:0000115 nl The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette NOT_TRANSLATED +en The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia HP:0025391 IAO:0000115 nl The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia NOT_TRANSLATED +en The speed at which disease manifestations appear and develop HP:0011008 IAO:0000115 nl The speed at which disease manifestations appear and develop NOT_TRANSLATED +en The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury HP:0031273 IAO:0000115 nl The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury NOT_TRANSLATED +en The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum HP:0010309 IAO:0000115 nl The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum NOT_TRANSLATED +en The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus HP:0030798 IAO:0000115 nl The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus NOT_TRANSLATED +en The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis HP:0011592 IAO:0000115 nl The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis NOT_TRANSLATED +en The superior vena cava passes below the aortic arch HP:0011685 IAO:0000115 nl The superior vena cava passes below the aortic arch NOT_TRANSLATED +en The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis HP:0040230 IAO:0000115 nl The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis NOT_TRANSLATED +en The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate HP:0031579 IAO:0000115 nl The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate NOT_TRANSLATED +en The tendency to repeat vocalizations made by another person HP:0010529 IAO:0000115 nl The tendency to repeat vocalizations made by another person NOT_TRANSLATED +en The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells HP:0004904 IAO:0000115 nl The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells NOT_TRANSLATED +en The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI) HP:0033678 IAO:0000115 nl The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI) NOT_TRANSLATED +en The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages HP:0033849 IAO:0000115 nl The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages NOT_TRANSLATED +en The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales HP:0007479 IAO:0000115 nl The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales NOT_TRANSLATED +en The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea HP:0001131 IAO:0000115 nl The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea NOT_TRANSLATED +en The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases HP:0001204 IAO:0000115 nl The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases NOT_TRANSLATED +en The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities HP:0003560 IAO:0000115 nl The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities NOT_TRANSLATED +en The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.) HP:0025729 IAO:0000115 nl The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.) NOT_TRANSLATED +en The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease HP:0001288 IAO:0000115 nl The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease NOT_TRANSLATED +en The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins HP:0033186 IAO:0000115 nl The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins NOT_TRANSLATED +en The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age HP:0001520 IAO:0000115 nl The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age NOT_TRANSLATED +en The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin HP:0025027 IAO:0000115 nl The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin NOT_TRANSLATED +en The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers HP:0004398 IAO:0000115 nl The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers NOT_TRANSLATED +en The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time HP:0006887 IAO:0000115 nl The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time NOT_TRANSLATED +en The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases HP:0006152 IAO:0000115 nl The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases NOT_TRANSLATED +en The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL) HP:0500081 IAO:0000115 nl The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL) NOT_TRANSLATED +en The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus HP:0032201 IAO:0000115 nl The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus NOT_TRANSLATED +en The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity) HP:0030247 IAO:0000115 nl The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity) NOT_TRANSLATED +en The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect HP:0032259 IAO:0000115 nl The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect NOT_TRANSLATED +en The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter HP:0002224 IAO:0000115 nl The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter NOT_TRANSLATED +en The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed HP:0034335 IAO:0000115 nl The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed NOT_TRANSLATED +en The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients HP:0031658 IAO:0000115 nl The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients NOT_TRANSLATED +en The total absence of the foot, with no bony elements distal to the tibia or fibula HP:0011301 IAO:0000115 nl The total absence of the foot, with no bony elements distal to the tibia or fibula NOT_TRANSLATED +en The total absence of the hand, with no bony elements distal to the radius or ulna HP:0004050 IAO:0000115 nl The total absence of the hand, with no bony elements distal to the radius or ulna NOT_TRANSLATED +en The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle HP:0011623 IAO:0000115 nl The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle NOT_TRANSLATED +en The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376) HP:0032174 IAO:0000115 nl The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376) NOT_TRANSLATED +en The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil HP:0031927 IAO:0000115 nl The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil NOT_TRANSLATED +en The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle HP:0006585 IAO:0000115 nl The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle NOT_TRANSLATED +en The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch HP:0011090 IAO:0000115 nl The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch NOT_TRANSLATED +en The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective) HP:0000508 IAO:0000115 nl The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective) NOT_TRANSLATED +en The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards HP:0025009 IAO:0000115 nl The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards NOT_TRANSLATED +en The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia HP:0040314 IAO:0000115 nl The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia NOT_TRANSLATED +en The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG) HP:0030205 IAO:0000115 nl The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG) NOT_TRANSLATED +en The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR) HP:0030183 IAO:0000115 nl The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR) NOT_TRANSLATED +en The vomiting of blood HP:0002248 IAO:0000115 nl The vomiting of blood NOT_TRANSLATED +en Thenar muscle atrophy HP:0003393 rdfs:label nl Duimmuis spieratrofie CANDIDATE +en Thenar muscle weakness HP:0003427 rdfs:label nl Thenar spierzwakte CANDIDATE +en Therapeutic abortion HP:0030449 rdfs:label nl Therapeutische abortus CANDIDATE +en There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above HP:0031585 IAO:0000115 nl There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above NOT_TRANSLATED +en There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate HP:0031584 IAO:0000115 nl There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate NOT_TRANSLATED +en There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma HP:0031475 IAO:0000115 nl There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma NOT_TRANSLATED +en There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers HP:0008835 IAO:0000115 nl There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers NOT_TRANSLATED +en These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform HP:0030007 IAO:0000115 nl These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform NOT_TRANSLATED +en Thiamine-responsive megaloblastic anemia HP:0004860 rdfs:label nl Thiamine-responsieve megaloblastaire anemie CANDIDATE +en Thick anterior alveolar ridges HP:0009100 rdfs:label nl Thick anterior alveolar ridges NOT_TRANSLATED +en Thick cerebral cortex HP:0006891 rdfs:label nl Dikke cerebrale cortex CANDIDATE +en Thick corpus callosum HP:0007074 rdfs:label nl Dik corpus callosum CANDIDATE +en Thick eyebrow HP:0000574 rdfs:label nl Dikke wenbrauw CANDIDATE +en Thick growth plates HP:0025369 rdfs:label nl Dikke groeiplaten CANDIDATE +en Thick hair HP:0100874 rdfs:label nl Dik haar CANDIDATE +en Thick lower lip vermilion HP:0000179 rdfs:label nl Dik onderliprood CANDIDATE +en Thick nasal alae HP:0009928 rdfs:label nl Dikke alae nasi CANDIDATE +en Thick nasal septum HP:0009746 rdfs:label nl Dik septum nasi CANDIDATE +en Thick oral frenulum HP:0034414 rdfs:label nl Thick oral frenulum NOT_TRANSLATED +en Thick pachygyria HP:0020187 rdfs:label nl Thick pachygyria NOT_TRANSLATED +en Thick skull base HP:0002737 rdfs:label nl Dikke schedel basis CANDIDATE +en Thick upper lip vermilion HP:0000215 rdfs:label nl Dik bovenliprood CANDIDATE +en Thick vermilion border HP:0012471 rdfs:label nl Thick vermilion border NOT_TRANSLATED +en Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on HE staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders HP:0100320 IAO:0000115 nl Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on HE staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders NOT_TRANSLATED +en Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm HP:0033831 IAO:0000115 nl Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm NOT_TRANSLATED +en Thick-walled abnormal gas-filled interstitial nodule within a lung HP:0034015 IAO:0000115 nl Thick-walled abnormal gas-filled interstitial nodule within a lung NOT_TRANSLATED +en Thickened Achilles tendon HP:0004690 rdfs:label nl Verdikte achillespees CANDIDATE +en Thickened aortic valve cusp HP:0031568 rdfs:label nl Verikte aortaklep cusp CANDIDATE +en Thickened calvaria HP:0002684 rdfs:label nl Verdikte calvaria CANDIDATE +en Thickened cortex of bones HP:0100039 rdfs:label nl Verdikte cortex van beenderen CANDIDATE +en Thickened cortex of long bones HP:0000935 rdfs:label nl Verdikte cortex van lange beenderen CANDIDATE +en Thickened ears HP:0009894 rdfs:label nl Verdikte oren CANDIDATE +en Thickened elastic fibers in the dermis HP:0025166 rdfs:label nl Verdikte elastische vezels in de dermis CANDIDATE +en Thickened fingernails HP:0040036 IAO:0000115 nl Thickened fingernails NOT_TRANSLATED +en Thickened glomerular basement membrane HP:0004722 rdfs:label nl Verdikking van de glomerulaire basale membraan CANDIDATE +en Thickened glomerular basement membranes with electron dense deposits HP:0033286 rdfs:label nl Thickened glomerular basement membranes with electron dense deposits NOT_TRANSLATED +en Thickened glomerular basement membranes with no electron dense deposits HP:0033285 rdfs:label nl Thickened glomerular basement membranes with no electron dense deposits NOT_TRANSLATED +en Thickened helices HP:0000391 rdfs:label nl Verdikte helices CANDIDATE +en Thickened mitral valve cusp HP:6000342 rdfs:label nl Verdikte cusp van mitralisklep OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Thickened nails without deformity HP:0012542 IAO:0000115 nl Thickened nails without deformity NOT_TRANSLATED +en Thickened nuchal skin fold HP:0000474 rdfs:label nl Verdikte nuchale huidplooi CANDIDATE +en Thickened ribs HP:0000900 rdfs:label nl Verdikte ribben CANDIDATE +en Thickened skin HP:0001072 rdfs:label nl Verdikte huid CANDIDATE +en Thickened superior cerebellar peduncle HP:0002404 rdfs:label nl Verdikte superieure cerebellaire peduncle CANDIDATE +en Thickened toenails HP:0008401 IAO:0000115 nl Thickened toenails NOT_TRANSLATED +en Thickening and hardening of the epidermis seen with exaggeration of normal skin lines HP:0100725 IAO:0000115 nl Thickening and hardening of the epidermis seen with exaggeration of normal skin lines NOT_TRANSLATED +en Thickening of glomerular capillary wall HP:0025005 rdfs:label nl Verdikking van de glomerulaire capillaire muur CANDIDATE +en Thickening of the epidermal layer of the skin HP:0011368 IAO:0000115 nl Thickening of the epidermal layer of the skin NOT_TRANSLATED +en Thickening of the heart walls in both ventricles HP:0200128 IAO:0000115 nl Thickening of the heart walls in both ventricles NOT_TRANSLATED +en Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa HP:0025173 IAO:0000115 nl Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa NOT_TRANSLATED +en Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa HP:0025172 IAO:0000115 nl Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa NOT_TRANSLATED +en Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture HP:0025174 IAO:0000115 nl Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture NOT_TRANSLATED +en Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina HP:0033907 IAO:0000115 nl Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina NOT_TRANSLATED +en Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina HP:0033905 IAO:0000115 nl Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina NOT_TRANSLATED +en Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina HP:0033959 IAO:0000115 nl Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina NOT_TRANSLATED +en Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins HP:0033916 IAO:0000115 nl Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins NOT_TRANSLATED +en Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney HP:0033964 IAO:0000115 nl Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney NOT_TRANSLATED +en Thickening of the lateral border of the scapula HP:0006650 rdfs:label nl Verdikking van de laterale rand van de scapula CANDIDATE +en Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography HP:0025177 IAO:0000115 nl Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography NOT_TRANSLATED +en Thickening of the periosteum of long bone HP:0006465 IAO:0000115 nl Thickening of the periosteum of long bone NOT_TRANSLATED +en Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease HP:0040049 IAO:0000115 nl Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease NOT_TRANSLATED +en Thickening of the tubular basement membrane HP:0020132 rdfs:label nl Thickening of the tubular basement membrane NOT_TRANSLATED +en Thigh hypertrophy HP:0003733 rdfs:label nl Dij hypertrofie CANDIDATE +en Thimble-shaped middle phalanges of hand HP:0006193 rdfs:label nl Vingerhoed-vormige middelste falangen van hand CANDIDATE +en Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare) HP:0100594 IAO:0000115 nl Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare) NOT_TRANSLATED +en Thin (atrophic) and wide scars HP:0001073 IAO:0000115 nl Thin (atrophic) and wide scars NOT_TRANSLATED +en Thin bony cortex HP:0002753 rdfs:label nl Dunne bot cortex CANDIDATE +en Thin calvarium HP:0010539 rdfs:label nl Dun schedeldak CANDIDATE +en Thin clavicles HP:0006645 rdfs:label nl Dunne claviculae CANDIDATE +en Thin corpus callosum HP:0033725 rdfs:label nl Thin corpus callosum NOT_TRANSLATED +en Thin ear helix HP:0009905 rdfs:label nl Dunne helix CANDIDATE +en Thin eyebrow HP:0045074 rdfs:label nl Dunne wenbrauw CANDIDATE +en Thin fingernail HP:0012742 rdfs:label nl Dunne vingernagel CANDIDATE +en Thin glomerular basement membrane HP:0012577 rdfs:label nl Dunne glomerulaire basaalmembraan CANDIDATE +en Thin long bone diaphyses HP:0006470 rdfs:label nl Dun lang bot diaphyses CANDIDATE +en Thin lower lip vermilion HP:0010282 rdfs:label nl Dun onderliprood CANDIDATE +en Thin metacarpal cortices HP:0006086 rdfs:label nl Dunne metacarpale cortices CANDIDATE +en Thin metatarsal cortices HP:0008078 rdfs:label nl Dikke metatarsale cortices CANDIDATE +en Thin myocardium compact layer HP:0031196 rdfs:label nl Thin myocardium compact layer NOT_TRANSLATED +en Thin nail HP:0001816 rdfs:label nl Dunne nagel CANDIDATE +en Thin proximal phalanges with broad epiphyses of the hand HP:0006213 rdfs:label nl Dunne proximale falangen met brede epifysen van de hand CANDIDATE +en Thin ribs HP:0000883 rdfs:label nl Dunne ribben CANDIDATE +en Thin skin HP:0000963 rdfs:label nl Dunne huid CANDIDATE +en Thin toenail HP:0012746 rdfs:label nl Dunne teennagel CANDIDATE +en Thin upper lip vermilion HP:0000219 rdfs:label nl Dun bovenliplood CANDIDATE +en Thin vermilion border HP:0000233 rdfs:label nl Dunne liprand CANDIDATE +en Thin zona pellucida HP:0020157 rdfs:label nl Thin zona pellucida NOT_TRANSLATED +en Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination HP:0034327 IAO:0000115 nl Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination NOT_TRANSLATED +en Thin-cap fibroatheroma HP:0031012 rdfs:label nl Fibroatheroom met dunne kap CANDIDATE +en Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis HP:0031012 IAO:0000115 nl Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis NOT_TRANSLATED +en Thinking-induced seizure HP:0020215 rdfs:label nl Thinking-induced seizure NOT_TRANSLATED +en Thinned, deficient, or excessively arched ala nasi HP:0000430 IAO:0000115 nl Thinned, deficient, or excessively arched ala nasi NOT_TRANSLATED +en Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders HP:0001065 IAO:0000115 nl Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders NOT_TRANSLATED +en Thinning and bulging of the posterior fossa bones HP:0000931 rdfs:label nl Afwijking van de posterieure craniale fossa botten CANDIDATE +en Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve HP:0500087 IAO:0000115 nl Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve NOT_TRANSLATED +en Thinning of Descemet membrane HP:0031159 rdfs:label nl Verdunning van de membraan van Descemet CANDIDATE +en Thinning of the substantia nigra pars compacta HP:0034316 rdfs:label nl Thinning of the substantia nigra pars compacta NOT_TRANSLATED +en Third degree atrioventricular block HP:0001709 rdfs:label nl Derdegraads atrioventriculair blok CANDIDATE +en Third heart sound HP:0031658 rdfs:label nl Derde harttoon CANDIDATE +en Third trimester onset HP:0034197 rdfs:label nl Third trimester onset NOT_TRANSLATED +en Third ventricle colloid cyst HP:0032578 rdfs:label nl Third ventricle colloid cyst NOT_TRANSLATED +en Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them HP:0001709 IAO:0000115 nl Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them NOT_TRANSLATED +en This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot HP:0030742 IAO:0000115 nl This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot NOT_TRANSLATED +en This applies to an individual who needs help with dressing or needs to be completely dressed HP:0031060 IAO:0000115 nl This applies to an individual who needs help with dressing or needs to be completely dressed NOT_TRANSLATED +en This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis HP:0033706 IAO:0000115 nl This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and innthe upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis NOT_TRANSLATED +en This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma HP:0007915 IAO:0000115 nl This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma NOT_TRANSLATED +en This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present) HP:0033702 IAO:0000115 nl This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present) NOT_TRANSLATED +en This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging HP:0032175 IAO:0000115 nl This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging NOT_TRANSLATED +en This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications HP:0033784 IAO:0000115 nl This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications NOT_TRANSLATED +en This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations HP:0004428 IAO:0000115 nl This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations NOT_TRANSLATED +en This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities HP:0033695 IAO:0000115 nl This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities NOT_TRANSLATED +en This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus) HP:0001848 IAO:0000115 nl This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus) NOT_TRANSLATED +en This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa HP:0031581 IAO:0000115 nl This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa NOT_TRANSLATED +en This may present as a partial or complete duplication of the eyebrows HP:0010730 IAO:0000115 nl This may present as a partial or complete duplication of the eyebrows NOT_TRANSLATED +en This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan HP:0031586 IAO:0000115 nl This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan NOT_TRANSLATED +en This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time HP:0031915 IAO:0000115 nl This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time NOT_TRANSLATED +en This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors HP:0025663 IAO:0000115 nl This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors NOT_TRANSLATED +en This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases HP:0032267 IAO:0000115 nl This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases NOT_TRANSLATED +en This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign HP:0032173 IAO:0000115 nl This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign NOT_TRANSLATED +en This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor HP:0032268 IAO:0000115 nl This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor NOT_TRANSLATED +en This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects HP:0012823 IAO:0000115 nl This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects NOT_TRANSLATED +en This term applies for all abnormalities of the big toe, also called hallux HP:0001844 IAO:0000115 nl This term applies for all abnormalities of the big toe, also called hallux NOT_TRANSLATED +en This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0009883 IAO:0000115 nl This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0010008 IAO:0000115 nl This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0009945 IAO:0000115 nl This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0009959 IAO:0000115 nl This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0009972 IAO:0000115 nl This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0009985 IAO:0000115 nl This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0009997 IAO:0000115 nl This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated HP:0010006 IAO:0000115 nl This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated NOT_TRANSLATED +en This term applies if the Epiglottis is absent or hypoplastic HP:0010565 IAO:0000115 nl This term applies if the Epiglottis is absent or hypoplastic NOT_TRANSLATED +en This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009663 IAO:0000115 nl This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009629 IAO:0000115 nl This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits HP:0009614 IAO:0000115 nl This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits NOT_TRANSLATED +en This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded HP:0032321 IAO:0000115 nl This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded NOT_TRANSLATED +en This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband) HP:0032320 IAO:0000115 nl This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband) NOT_TRANSLATED +en This term applies to a triangular shaped 1st metacarpal HP:0010033 IAO:0000115 nl This term applies to a triangular shaped 1st metacarpal NOT_TRANSLATED +en This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone HP:0009132 IAO:0000115 nl This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone NOT_TRANSLATED +en This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ HP:0004348 IAO:0000115 nl This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ NOT_TRANSLATED +en This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing HP:0031059 IAO:0000115 nl This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing NOT_TRANSLATED +en This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode HP:0031061 IAO:0000115 nl This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode NOT_TRANSLATED +en This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells HP:0002352 IAO:0000115 nl This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells NOT_TRANSLATED +en This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density HP:0031983 IAO:0000115 nl This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density NOT_TRANSLATED +en This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip HP:0004122 IAO:0000115 nl This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip NOT_TRANSLATED +en This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive) HP:0034198 IAO:0000115 nl This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive) NOT_TRANSLATED +en This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond HP:0034197 IAO:0000115 nl This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond NOT_TRANSLATED +en This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive) HP:0034199 IAO:0000115 nl This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive) NOT_TRANSLATED +en This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses) HP:0001933 IAO:0000115 nl This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses) NOT_TRANSLATED +en This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation HP:0030271 IAO:0000115 nl This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation NOT_TRANSLATED +en This term refers to the loss of eyelashes that were previously present HP:0011457 IAO:0000115 nl This term refers to the loss of eyelashes that were previously present NOT_TRANSLATED +en This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes HP:0005627 IAO:0000115 nl This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes NOT_TRANSLATED +en Thistle tube shaped pulp HP:0033790 rdfs:label nl Thistle tube shaped pulp NOT_TRANSLATED +en Thoracic aorta calcification HP:0004962 rdfs:label nl Thoracale aorta calcificatie CANDIDATE +en Thoracic aortic aneurysm HP:0012727 rdfs:label nl Thoracale aorta aneurysma CANDIDATE +en Thoracic dysplasia HP:0006644 rdfs:label nl Thoracale dysplasie CANDIDATE +en Thoracic ectopia cordis HP:0011585 rdfs:label nl Thoracale ectopia cordis CANDIDATE +en Thoracic hemivertebrae HP:0008467 rdfs:label nl Thoracale hemivertebrae CANDIDATE +en Thoracic hypertrichosis HP:0011914 rdfs:label nl Thoracle hypertrichose CANDIDATE +en Thoracic hypoplasia HP:0005257 rdfs:label nl Thoracale hypoplasie CANDIDATE +en Thoracic kyphoscoliosis HP:0005659 rdfs:label nl Thoracale kyfoscoliose CANDIDATE +en Thoracic kyphosis HP:0002942 rdfs:label nl Thoracale kyfose CANDIDATE +en Thoracic platyspondyly HP:0004592 rdfs:label nl Platyspondylie van thorax CANDIDATE +en Thoracic scoliosis HP:0002943 rdfs:label nl Thoracale scoliose CANDIDATE +en Thoracoabdominal ectopia cordis HP:0011586 rdfs:label nl Thoracoabdominale ectopia cordis CANDIDATE +en Thoracoabdominal eventration HP:0100657 rdfs:label nl Thoracoabdominale eventratie CANDIDATE +en Thoracoabdominal wall defect HP:0100656 rdfs:label nl Thoracoabdominale wand defect CANDIDATE +en Thoracocervical ectopia cordis HP:0011584 rdfs:label nl Thoracocervicale ectopia cordis CANDIDATE +en Thoracolumbar interpediculate narrowness HP:0008484 rdfs:label nl Thoracolumbar interpediculate narrowness NOT_TRANSLATED +en Thoracolumbar kyphoscoliosis HP:0003423 rdfs:label nl Thoracolumbale kyfoscoliose CANDIDATE +en Thoracolumbar kyphosis HP:0005619 rdfs:label nl Thoracolumbale kyfose CANDIDATE +en Thoracolumbar scoliosis HP:0002944 rdfs:label nl Thoracolumbale scoliose CANDIDATE +en Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine HP:0004598 IAO:0000115 nl Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine NOT_TRANSLATED +en Three rows of eyelashes HP:0008009 rdfs:label nl Drie rijen van wimpers CANDIDATE +en Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney HP:0033899 IAO:0000115 nl Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney NOT_TRANSLATED +en Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney HP:0033878 IAO:0000115 nl Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney NOT_TRANSLATED +en Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney HP:0033893 IAO:0000115 nl Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney NOT_TRANSLATED +en Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney HP:0033858 IAO:0000115 nl Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney NOT_TRANSLATED +en Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney HP:0033874 IAO:0000115 nl Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney NOT_TRANSLATED +en Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney HP:0033871 IAO:0000115 nl Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney NOT_TRANSLATED +en Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney HP:0033951 IAO:0000115 nl Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney NOT_TRANSLATED +en Thrombocytopenia HP:0001873 rdfs:label nl Trombocytopenie CANDIDATE +en Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes HP:0004859 IAO:0000115 nl Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes NOT_TRANSLATED +en Thrombocytopenia with congenital onset HP:0001905 IAO:0000115 nl Thrombocytopenia with congenital onset NOT_TRANSLATED +en Thrombocytosis HP:0001894 rdfs:label nl Trombocytose CANDIDATE +en Thromboembolic stroke HP:0001727 rdfs:label nl Trombo-embolische beroerte CANDIDATE +en Thromboembolism HP:0001907 rdfs:label nl Trombo-embolisme CANDIDATE +en Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot HP:0040229 IAO:0000115 nl Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot NOT_TRANSLATED +en Thrombophlebitis HP:0004418 rdfs:label nl Tromboflebitis CANDIDATE +en Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins HP:0030242 IAO:0000115 nl Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins NOT_TRANSLATED +en Thumbs hypoplastic with bulbous tips HP:0005726 rdfs:label nl Hypoplastische duimen met bulbeuze punten CANDIDATE +en Thunderclap headache HP:0030907 rdfs:label nl Donderslaghoofdpijn CANDIDATE +en Thymic hormone decreased HP:0003357 rdfs:label nl Thymus hormoon vermindering CANDIDATE +en Thymoma HP:0100522 rdfs:label nl Thymoom CANDIDATE +en Thymus hyperplasia HP:0010516 rdfs:label nl Thymus hyperplasie CANDIDATE +en Thyroglossal cyst HP:0010518 rdfs:label nl Thyroglossale cyste CANDIDATE +en Thyroid C cell hyperplasia HP:0011781 rdfs:label nl Schildklier C cel hyperplasie CANDIDATE +en Thyroid adenoma HP:0000854 rdfs:label nl Schildklier adenoom CANDIDATE +en Thyroid agenesis HP:0008191 rdfs:label nl Schildklier agenesie CANDIDATE +en Thyroid atypical adenoma HP:0011778 rdfs:label nl Atypisch schildklieradenoom CANDIDATE +en Thyroid carcinoma HP:0002890 rdfs:label nl Schildklier carcinoom CANDIDATE +en Thyroid crisis HP:0011782 rdfs:label nl Schildklier crisis CANDIDATE +en Thyroid defect in oxidation and organification of iodide HP:0008263 rdfs:label nl Schildklier defect in oxidatie en organificatie van jood CANDIDATE +en Thyroid dysgenesis HP:0008188 rdfs:label nl Schildklier dysgenesie CANDIDATE +en Thyroid follicular adenoma HP:0011774 rdfs:label nl Folliculair schildklieradenoom CANDIDATE +en Thyroid follicular hyperplasia HP:0008225 rdfs:label nl Folliculaire schildklier hyperplasie CANDIDATE +en Thyroid hemiagenesis HP:0011780 rdfs:label nl Schildklier hemiagenesis CANDIDATE +en Thyroid hyperplasia HP:0008249 rdfs:label nl Schildklier hyperplasie CANDIDATE +en Thyroid hypoplasia HP:0005990 rdfs:label nl Schildklier hypoplasie CANDIDATE +en Thyroid lymphangiectasia HP:0008229 rdfs:label nl Schildklier lymfangiëctasieën CANDIDATE +en Thyroid macrofollicular adenoma HP:0011775 rdfs:label nl Macrofolliculair schildklieradenoom CANDIDATE +en Thyroid microfollicular adenoma HP:0011776 rdfs:label nl Microfolliculair schildklieradenoom CANDIDATE +en Thyroid nodule HP:0025388 rdfs:label nl Schildklier nodulus CANDIDATE +en Thyroid papillary adenoma HP:0011777 rdfs:label nl Papillair schildklieradenoom CANDIDATE +en Thyroiditis HP:0100646 rdfs:label nl Thyroiditis CANDIDATE +en Thyroidization-type tubular atrophy HP:0032608 rdfs:label nl Thyroidization-type tubular atrophy NOT_TRANSLATED +en Thyrotoxicosis from ectopic thyroid tissue HP:0011783 rdfs:label nl Thyrotoxicose van ectopisch schildklierweefsel CANDIDATE +en Thyrotoxicosis with diffuse goiter HP:0011784 rdfs:label nl Thyrotoxicose van diffuus stroma CANDIDATE +en Thyrotoxicosis with toxic multinodular goiter HP:0011785 rdfs:label nl Thyrotoxicose met toxisch multinodulair struma CANDIDATE +en Thyrotoxicosis with toxic single thyroid nodule HP:0011786 rdfs:label nl Thyrotoxicose met uninodulaire toxische struma CANDIDATE +en Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test HP:0033080 IAO:0000115 nl Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test NOT_TRANSLATED +en Tibial arterial calcification HP:0031305 rdfs:label nl Arteria tibialis calcificatie CANDIDATE +en Tibial bowing HP:0002982 rdfs:label nl Buiging van de tibia CANDIDATE +en Tibial deviation of the 2nd toe HP:0100345 rdfs:label nl Tibiale deviatie van de 2e teen CANDIDATE +en Tibial deviation of the 3rd toe HP:0100343 rdfs:label nl Tibiale deviatie van de 3e teen CANDIDATE +en Tibial deviation of the 4th toe HP:0100341 rdfs:label nl Tibiale deviatie van de 4e teen CANDIDATE +en Tibial deviation of the 5th toe HP:0100347 rdfs:label nl Tibiale deviatie van de 5e teen CANDIDATE +en Tibial deviation of toes HP:0100499 rdfs:label nl Tibiale deviatie van de tenen CANDIDATE +en Tibial metaphyseal irregularity HP:0030292 rdfs:label nl Onregelmatigheid van metafyse van tibia CANDIDATE +en Tibial pseudarthrosis HP:0009736 rdfs:label nl Pseudoartrose van de tibia CANDIDATE +en Tibial spur HP:0031173 rdfs:label nl Uitloper van de tibia CANDIDATE +en Tibial torsion HP:0100694 rdfs:label nl Torsie van de tibia CANDIDATE +en Tibialis anterior muscle atrophy HP:0011399 rdfs:label nl Tibialis atrofie CANDIDATE +en Tibialis muscle weakness HP:0008963 rdfs:label nl Musculus tibialis zwakte CANDIDATE +en Tibiofibular diastasis HP:0100535 rdfs:label nl Tibiofibulaire diastase CANDIDATE +en Tics HP:0100033 rdfs:label nl Tics CANDIDATE +en Tiger tail banding HP:0045055 rdfs:label nl Tiger tail banding CANDIDATE +en Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath HP:4000007 IAO:0000115 nl Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath NOT_TRANSLATED +en Tingling (often refered to as a pins and needles feeling) and numbness in the hand HP:0033660 IAO:0000115 nl Tingling (often refered to as a pins and needles feeling) and numbness in the hand NOT_TRANSLATED +en Tinnitus HP:0000360 rdfs:label nl Tinnitus CANDIDATE +en Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation HP:0000360 IAO:0000115 nl Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation NOT_TRANSLATED +en Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands HP:0007508 IAO:0000115 nl Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands NOT_TRANSLATED +en Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp HP:0025560 IAO:0000115 nl Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp NOT_TRANSLATED +en Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching HP:0030826 IAO:0000115 nl Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching NOT_TRANSLATED +en Tip variant segmental glomerulosclerosis HP:0033497 rdfs:label nl Tip variant segmental glomerulosclerosis NOT_TRANSLATED +en Tip-toe gait HP:0030051 rdfs:label nl Tenengang CANDIDATE +en Tissue ischemia HP:0033401 rdfs:label nl Tissue ischemia NOT_TRANSLATED +en Titubation HP:0030187 rdfs:label nl Titubatie CANDIDATE +en To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position HP:0031955 IAO:0000115 nl To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position NOT_TRANSLATED +en Toe clinodactyly HP:0001863 rdfs:label nl Teenclinodactyly CANDIDATE +en Toe dactylitis HP:0031091 rdfs:label nl Teen dactylitis CANDIDATE +en Toe deformity HP:0034398 rdfs:label nl Toe deformity NOT_TRANSLATED +en Toe extensor amyotrophy HP:0011916 rdfs:label nl Teen extensor amyotrofie CANDIDATE +en Toe pain HP:0030841 rdfs:label nl Teen pijn CANDIDATE +en Toe syndactyly HP:0001770 rdfs:label nl Teensyndactyly CANDIDATE +en Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate HP:0001810 IAO:0000115 nl Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate NOT_TRANSLATED +en Toenail dysplasia HP:0100797 rdfs:label nl Teennagel dysplasie CANDIDATE +en Toenail onycholysis HP:0040040 rdfs:label nl Onycholyse van teennagels CANDIDATE +en Toenail that appears thin when viewed on end HP:0012746 IAO:0000115 nl Toenail that appears thin when viewed on end NOT_TRANSLATED +en Toes appear swollen and plump owing to inflammation of the complete toe HP:0031091 IAO:0000115 nl Toes appear swollen and plump owing to inflammation of the complete toe NOT_TRANSLATED +en Toes that appear disproportionately long compared to the foot HP:0010511 IAO:0000115 nl Toes that appear disproportionately long compared to the foot NOT_TRANSLATED +en Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual HP:0011308 IAO:0000115 nl Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual NOT_TRANSLATED +en Tombstone-shaped proximal phalanges HP:0006060 rdfs:label nl Grafsteen-vormige proximale falangen CANDIDATE +en Tongue atrophy HP:0012473 rdfs:label nl Tong atrofie CANDIDATE +en Tongue edema HP:0040315 rdfs:label nl Tong oedeem CANDIDATE +en Tongue extending beyond the alveolar ridges or teeth at rest HP:0010808 IAO:0000115 nl Tongue extending beyond the alveolar ridges or teeth at rest NOT_TRANSLATED +en Tongue fasciculations HP:0001308 rdfs:label nl Tongfasciculaties CANDIDATE +en Tongue nodules HP:0000199 rdfs:label nl Tong noduli CANDIDATE +en Tongue pain HP:0030811 rdfs:label nl Tong pijn CANDIDATE +en Tongue telangiectasia HP:0000227 rdfs:label nl Tong Teleangiëctasie CANDIDATE +en Tongue thrusting HP:0100703 rdfs:label nl Tong stoten CANDIDATE +en Tongue tremor HP:0031947 rdfs:label nl Tongue tremor NOT_TRANSLATED +en Tongue with a median apical indentation or fork HP:0010297 IAO:0000115 nl Tongue with a median apical indentation or fork NOT_TRANSLATED +en Tongue-like lumbar vertebral deformities HP:0005680 rdfs:label nl Tong-achtige lumbale wervel misvormingen CANDIDATE +en Tonic pupil HP:0012074 rdfs:label nl Tonische pupil CANDIDATE +en Tonic seizure HP:0032792 rdfs:label nl Tonic seizure NOT_TRANSLATED +en Tonic status epilepticus HP:0032670 rdfs:label nl Tonic status epilepticus NOT_TRANSLATED +en Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal HP:0032670 IAO:0000115 nl Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal NOT_TRANSLATED +en Tonofilament clumping HP:0034067 rdfs:label nl Tonofilament clumping NOT_TRANSLATED +en Tooth abscess HP:0030757 rdfs:label nl Abces van de tand CANDIDATE +en Tooth agenesis HP:0009804 rdfs:label nl Verminderd aantal tanden CANDIDATE +en Tooth ankylosis HP:0033791 rdfs:label nl Tooth ankylosis NOT_TRANSLATED +en Tooth avulsion HP:0034415 rdfs:label nl Tooth avulsion NOT_TRANSLATED +en Tooth malposition HP:0000692 rdfs:label nl Tanden staan niet in een lijn CANDIDATE +en Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length HP:0033189 IAO:0000115 nl Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length NOT_TRANSLATED +en Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length HP:0006336 IAO:0000115 nl Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length NOT_TRANSLATED +en Torn meniscus HP:0032191 rdfs:label nl Torn meniscus NOT_TRANSLATED +en Torn oral frenulum HP:0034416 rdfs:label nl Torn oral frenulum NOT_TRANSLATED +en Torsade de pointes HP:0001664 rdfs:label nl Torsade de pointes CANDIDATE +en Torsion dystonia HP:0001304 rdfs:label nl Torsie dystonie CANDIDATE +en Torsion of appendix of testis HP:0033180 rdfs:label nl Torsion of appendix of testis NOT_TRANSLATED +en Torsion of the penis HP:0030263 rdfs:label nl Torsie van de penis CANDIDATE +en Torticollis HP:0000473 rdfs:label nl Torticollis CANDIDATE +en Tortuosity of conjunctival vessels HP:0000503 rdfs:label nl Tortuositeit van conjunctivale vaten CANDIDATE +en Tortuous cerebral arteries HP:0004938 rdfs:label nl Kronkelende cerebrale arteriën CANDIDATE +en Tortuous lymphatic vessels HP:0033986 rdfs:label nl Tortuous lymphatic vessels NOT_TRANSLATED +en Torus palatinus HP:0100789 rdfs:label nl Torus palatinus CANDIDATE +en Total absence of the pericardium HP:0011629 rdfs:label nl Totale afwezigheid van het pericardium CANDIDATE +en Total absence von Willebrand factor multimers HP:0030134 rdfs:label nl Totale afwezigheid von Willebrand factor multimeren CANDIDATE +en Total anomalous pulmonary venous return HP:0005160 rdfs:label nl Geheel afwijkende pulmonale veneuze return CANDIDATE +en Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium HP:0005160 IAO:0000115 nl Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium NOT_TRANSLATED +en Total anosmia HP:0010632 rdfs:label nl Totale anosmie CANDIDATE +en Total colonic aganglionosis HP:0011286 rdfs:label nl Totale colonische aganglionose CANDIDATE +en Total hyposmia HP:0010634 rdfs:label nl Totale hyposmie CANDIDATE +en Total intestinal aganglionosis HP:0005241 rdfs:label nl Totale intestinale aganglionose CANDIDATE +en Total ophthalmoplegia HP:0007824 rdfs:label nl Totale oftalmoplegie CANDIDATE +en Toxemia of pregnancy HP:0100603 rdfs:label nl Toxemia van zwangerschap CANDIDATE +en Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs) HP:0020105 IAO:0000115 nl Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs) NOT_TRANSLATED +en Tracheal atresia HP:0100682 rdfs:label nl Tracheale atresie CANDIDATE +en Tracheal bronchus HP:0033614 rdfs:label nl Tracheal bronchus NOT_TRANSLATED +en Tracheal calcification HP:0002787 rdfs:label nl Tracheale calcificatie CANDIDATE +en Tracheal cartilaginous sleeve HP:0005347 rdfs:label nl Cartilagineuze trachea CANDIDATE +en Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes HP:0005347 IAO:0000115 nl Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly.nComment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes NOT_TRANSLATED +en Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical) HP:0006509 IAO:0000115 nl Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical) NOT_TRANSLATED +en Tracheal duplication cyst HP:0020143 rdfs:label nl Tracheal duplication cyst NOT_TRANSLATED +en Tracheal hemorrhage HP:0034000 rdfs:label nl Tracheal hemorrhage NOT_TRANSLATED +en Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy HP:0034000 IAO:0000115 nl Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy NOT_TRANSLATED +en Tracheal papilloma HP:0033003 rdfs:label nl Tracheal papilloma NOT_TRANSLATED +en Tracheal stenosis HP:0002777 rdfs:label nl Tracheale stenose CANDIDATE +en Tracheal tug on inspiration HP:0025008 rdfs:label nl Tracheal tug on inspiration NOT_TRANSLATED +en Tracheobronchial leiomyomatosis HP:0006524 rdfs:label nl Tracheobronchiale leiomyomatose CANDIDATE +en Tracheobronchmegaly HP:0010776 rdfs:label nl Tracheobronchomegalie CANDIDATE +en Tracheobronchomalacia HP:0002786 rdfs:label nl Tracheobronchomalacie CANDIDATE +en Tracheoesophageal fistula HP:0002575 rdfs:label nl Tracheosofageale fistel CANDIDATE +en Tracheomalacia HP:0002779 rdfs:label nl Tracheomalacie CANDIDATE +en Tracheomegaly HP:0010778 rdfs:label nl Tracheomegalie CANDIDATE +en Trachyonychia HP:0030804 rdfs:label nl Trachyonychia CANDIDATE +en Traction bronchiectasis HP:0032969 rdfs:label nl Traction bronchiectasis NOT_TRANSLATED +en Traction bronchiolectasis HP:0032970 rdfs:label nl Traction bronchiolectasis NOT_TRANSLATED +en Tractional retinal detachment HP:0007917 rdfs:label nl Tractionele netvliesloslating CANDIDATE +en Tractional retinal detachment at the periphery of the retina HP:0007643 IAO:0000115 nl Tractional retinal detachment at the periphery of the retina NOT_TRANSLATED +en Tragal bridge of crus of helix HP:0011258 rdfs:label nl Tragal bridge of crus of helix NOT_TRANSLATED +en Transient HP:0025153 rdfs:label nl Voorbijgaand CANDIDATE +en Transient aminoaciduria HP:0008273 rdfs:label nl Voorbijgaande aminoacidurie CANDIDATE +en Transient blurring of vision associated with the aura phase of migraine HP:0001125 IAO:0000115 nl Transient blurring of vision associated with the aura phase of migraine NOT_TRANSLATED +en Transient decreased circulating IgA HP:0033024 rdfs:label nl Transient decreased circulating IgA NOT_TRANSLATED +en Transient decreased circulating IgD HP:0033017 rdfs:label nl Transient decreased circulating IgD NOT_TRANSLATED +en Transient decreased circulating IgE HP:0033021 rdfs:label nl Transient decreased circulating IgE NOT_TRANSLATED +en Transient decreased circulating IgG1 HP:0041067 rdfs:label nl Transient decreased circulating IgG1 NOT_TRANSLATED +en Transient decreased circulating IgG2 HP:0041062 rdfs:label nl Transient decreased circulating IgG2 NOT_TRANSLATED +en Transient decreased circulating IgG3 HP:0041071 rdfs:label nl Transient decreased circulating IgG3 NOT_TRANSLATED +en Transient decreased circulating IgG4 HP:0041057 rdfs:label nl Transient decreased circulating IgG4 NOT_TRANSLATED +en Transient decreased circulating total IgG HP:0032133 rdfs:label nl Transient decreased circulating total IgG NOT_TRANSLATED +en Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body HP:0012194 IAO:0000115 nl Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body NOT_TRANSLATED +en Transient erythroblastopenia HP:0005510 rdfs:label nl Tijdelijke erytroblastopenie CANDIDATE +en Transient eyelid retraction during refixation from down to straight ahead HP:0031786 IAO:0000115 nl Transient eyelid retraction during refixation from down to straight ahead NOT_TRANSLATED +en Transient global amnesia HP:0010534 rdfs:label nl Transient global amnesia CANDIDATE +en Transient hearing impairment HP:0012779 rdfs:label nl Voorbijgaande slechthorendheid CANDIDATE +en Transient hyperlipidemia HP:0008279 rdfs:label nl Voorbijgaande hyperlipidemie CANDIDATE +en Transient hyperphenylalaninemia HP:0008297 rdfs:label nl Voorbijgaande hyperfenylalaninemie CANDIDATE +en Transient hypogammaglobulinemia of infancy HP:0005432 rdfs:label nl Voorbijgaande hypogammaglobulinemia van jeugd CANDIDATE +en Transient hypophosphatemia HP:0008285 rdfs:label nl Voorbijgaande hypofosfatemie CANDIDATE +en Transient ischemic attack HP:0002326 rdfs:label nl Transient ischemic attack CANDIDATE +en Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation HP:0011665 IAO:0000115 nl Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation NOT_TRANSLATED +en Transient myeloproliferative syndrome HP:0005534 rdfs:label nl Voorbijgaand myeloproliferatief syndroom CANDIDATE +en Transient neonatal diabetes mellitus HP:0008255 rdfs:label nl Voorbijgaande neonatale diabetes mellitus CANDIDATE +en Transient nephrotic syndrome HP:0008695 rdfs:label nl Voorbijgaand nefrotisch syndroom CANDIDATE +en Transient neutropenia HP:0410255 rdfs:label nl Transient neutropenia NOT_TRANSLATED +en Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan HP:0410256 IAO:0000115 nl Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan NOT_TRANSLATED +en Transient psychotic episodes HP:0006932 rdfs:label nl Voorbijgaande psychotische episoden CANDIDATE +en Transient pulmonary infiltrates HP:0005828 rdfs:label nl Voorbijgaande pulmonale infiltraten CANDIDATE +en Transient unilateral blurring of vision HP:0001125 rdfs:label nl Tijdelijke unilaterale vervaging van visie CANDIDATE +en Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches HP:0002232 IAO:0000115 nl Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches NOT_TRANSLATED +en Transitional atrioventricular canal defect HP:0011578 rdfs:label nl Tranistioneel atrioventriculair kanaaldefect CANDIDATE +en Transitional cell carcinoma of the bladder HP:0006740 rdfs:label nl Overgangscelcarcinoom van de blaas CANDIDATE +en Transitional-cell carcinoma of the ureter HP:0034512 rdfs:label nl Transitional-cell carcinoma of the ureter NOT_TRANSLATED +en Translamellar aortic medial fibrosis HP:0032091 rdfs:label nl Translamellar aortic medial fibrosis NOT_TRANSLATED +en Translamellar mucoid extracellular matrix accumulation HP:0032082 rdfs:label nl Translamellar mucoid extracellular matrix accumulation NOT_TRANSLATED +en Transmantle columnar heterotopia HP:0032396 rdfs:label nl Transmantle columnar heterotopia NOT_TRANSLATED +en Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris HP:0012805 IAO:0000115 nl Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris NOT_TRANSLATED +en Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis HP:0032020 IAO:0000115 nl Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis NOT_TRANSLATED +en Transphyseal fracture of the distal humerus HP:0033262 rdfs:label nl Transphyseal fracture of the distal humerus NOT_TRANSLATED +en Transposition of the great arteries HP:0001669 rdfs:label nl Transpositie van de grote slagaders CANDIDATE +en Transthyretin cardiac amyloidosis HP:0031327 rdfs:label nl Transthyretin cardiac amyloidosis NOT_TRANSLATED +en Transudative pleural effusion HP:0011920 rdfs:label nl Transudatieve pleurale effusie CANDIDATE +en Transverse facial cleft HP:0100731 rdfs:label nl Transversale faciale cleft CANDIDATE +en Transverse fracture HP:4000044 rdfs:label nl Transverse fracture NOT_TRANSLATED +en Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft HP:0034354 IAO:0000115 nl Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft NOT_TRANSLATED +en Transverse vaginal septum HP:0000145 rdfs:label nl Transversale vaginale septum CANDIDATE +en Trapezius muscle aplasia HP:0034342 rdfs:label nl Trapezius muscle aplasia NOT_TRANSLATED +en Trapezoidal distal femoral condyles HP:0006432 rdfs:label nl Trapezium-vormige distale femurcondylen CANDIDATE +en Trapezoidal vertebral body HP:0005621 rdfs:label nl Trapezium-vormige wervellichamen CANDIDATE +en Trapping and compression of the rotator cuff tendons during shoulder movements HP:0030881 IAO:0000115 nl Trapping and compression of the rotator cuff tendons during shoulder movements NOT_TRANSLATED +en Tree-in-bud pattern HP:0032174 rdfs:label nl Tree-in-bud pattern NOT_TRANSLATED +en Tremor HP:0001337 rdfs:label nl Tremor CANDIDATE +en Tremor by anatomical site HP:0030188 rdfs:label nl Tremor by anatomical site NOT_TRANSLATED +en Tremor classified by the affected body part HP:0030188 IAO:0000115 nl Tremor classified by the affected body part NOT_TRANSLATED +en Tremor of the trunk in an anterior-posterior plane at 3-4 Hz HP:0030147 IAO:0000115 nl Tremor of the trunk in an anterior-posterior plane at 3-4 Hz NOT_TRANSLATED +en Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor HP:0030186 IAO:0000115 nl Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor NOT_TRANSLATED +en Tremulousness (trembling) of the lens of the eye HP:0012629 IAO:0000115 nl Tremulousness (trembling) of the lens of the eye NOT_TRANSLATED +en Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens HP:0100693 IAO:0000115 nl Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens NOT_TRANSLATED +en Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base HP:0010804 IAO:0000115 nl Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base NOT_TRANSLATED +en Triangular epiphyses HP:0010587 rdfs:label nl Driehoekige epifysen CANDIDATE +en Triangular epiphyses of the 2nd finger HP:0009498 rdfs:label nl Driehoekige epifysen van de 2e vinger CANDIDATE +en Triangular epiphyses of the 2nd toe HP:0100054 rdfs:label nl Driehoekige epifysen van de 2e teen CANDIDATE +en Triangular epiphyses of the 3rd finger HP:0009420 rdfs:label nl Driehoekige epifysen van de 3e vinger CANDIDATE +en Triangular epiphyses of the 3rd toe HP:0100065 rdfs:label nl Driehoekige epifysen van de 3e teen CANDIDATE +en Triangular epiphyses of the 4th finger HP:0009403 rdfs:label nl Driehoekige epifysen van de 4e vinger CANDIDATE +en Triangular epiphyses of the 4th toe HP:0100076 rdfs:label nl Driehoekige epifysen van de 4e teen CANDIDATE +en Triangular epiphyses of the 5th finger HP:0009392 rdfs:label nl Driehoekige epifysen van de 5e vinger CANDIDATE +en Triangular epiphyses of the 5th toe HP:0100087 rdfs:label nl Driehoekige epifysen van de 5e teen CANDIDATE +en Triangular epiphyses of the distal phalanges of the hand HP:0010256 rdfs:label nl Driehoekige epifysen van distale falangen van hand CANDIDATE +en Triangular epiphyses of the hallux HP:0010123 rdfs:label nl Driehoekige epifysen van de hallux CANDIDATE +en Triangular epiphyses of the metacarpals HP:0009171 rdfs:label nl Driehoekige epifysen van de metacarpalen CANDIDATE +en Triangular epiphyses of the middle phalanges of the hand HP:0010267 rdfs:label nl Driehoekige epifysen van middelste falangen van hand CANDIDATE +en Triangular epiphyses of the phalanges of the hand HP:0010238 rdfs:label nl Driehoekige epifysen van falangen van de hand CANDIDATE +en Triangular epiphyses of the proximal phalanges of the hand HP:0010278 rdfs:label nl Driehoekige epifysen van proximale falangen van hand CANDIDATE +en Triangular epiphyses of the thumb HP:0009696 rdfs:label nl Driehoekige epifysen van de duim CANDIDATE +en Triangular epiphyses of the toes HP:0010172 rdfs:label nl Driehoekige epifyses van de tenen CANDIDATE +en Triangular epiphysis of the 1st metacarpal HP:0010025 rdfs:label nl Driehoekige epifyse van de 1e metacarpaal CANDIDATE +en Triangular epiphysis of the 1st metatarsal HP:0010159 rdfs:label nl Driehoekige epifyse van de 1e metatarsaal CANDIDATE +en Triangular epiphysis of the distal phalanx of the 2nd finger HP:0009512 rdfs:label nl Driehoekige epifyse van de distale falanx van de 2e vinger CANDIDATE +en Triangular epiphysis of the distal phalanx of the 2nd toe HP:0100110 rdfs:label nl Driehoekige epifyse van de distale falanx van de 2e teen CANDIDATE +en Triangular epiphysis of the distal phalanx of the 3rd finger HP:0009345 rdfs:label nl Driehoekige epifyse van de distale falanx van de 3e vinger CANDIDATE +en Triangular epiphysis of the distal phalanx of the 3rd toe HP:0100145 rdfs:label nl Driehoekige epifyse van de distale falanx van de 3e teen CANDIDATE +en Triangular epiphysis of the distal phalanx of the 4th finger HP:0009260 rdfs:label nl Driehoekige epifyse van de distale falanx van de 4e vinger CANDIDATE +en Triangular epiphysis of the distal phalanx of the 4th toe HP:0100179 rdfs:label nl Driehoekige epifyse van de distale falanx van de 4e teen CANDIDATE +en Triangular epiphysis of the distal phalanx of the 5th finger HP:0009149 rdfs:label nl Driehoekige epifyse van de distale falanx van de 5e vinger CANDIDATE +en Triangular epiphysis of the distal phalanx of the 5th toe HP:0100212 rdfs:label nl Driehoekige epifyse van de distale falanx van de 5e teen CANDIDATE +en Triangular epiphysis of the distal phalanx of the hallux HP:0010148 rdfs:label nl Driehoekige epifyse van de distale falanx van de hallux CANDIDATE +en Triangular epiphysis of the distal phalanx of the thumb HP:0009685 rdfs:label nl Driehoekige epifyse van de distale falanx van de duim CANDIDATE +en Triangular epiphysis of the middle phalanx of the 2nd finger HP:0009523 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 2e vinger CANDIDATE +en Triangular epiphysis of the middle phalanx of the 2nd toe HP:0100121 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 2e teen CANDIDATE +en Triangular epiphysis of the middle phalanx of the 3rd finger HP:0009331 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 3e vinger CANDIDATE +en Triangular epiphysis of the middle phalanx of the 3rd toe HP:0100156 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 3e teen CANDIDATE +en Triangular epiphysis of the middle phalanx of the 4th finger HP:0009224 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 4e vinger CANDIDATE +en Triangular epiphysis of the middle phalanx of the 4th toe HP:0100190 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 4e teen CANDIDATE +en Triangular epiphysis of the middle phalanx of the 5th finger HP:0009213 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 5e vinger CANDIDATE +en Triangular epiphysis of the middle phalanx of the 5th toe HP:0100223 rdfs:label nl Driehoekige epifyse van de middelste falanx van de 5e teen CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 2nd finger HP:0009534 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 2e vinger CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 2nd toe HP:0100132 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 2e teen CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 3rd finger HP:0009356 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 3e vinger CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 3rd toe HP:0100167 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 3e teen CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 4th finger HP:0009271 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 4e vinger CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 4th toe HP:0100201 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 4e teen CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 5th finger HP:0009154 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 5e vinger CANDIDATE +en Triangular epiphysis of the proximal phalanx of the 5th toe HP:0100234 rdfs:label nl Driehoekige epifyse van de proximale falanx van de 5e teen CANDIDATE +en Triangular epiphysis of the proximal phalanx of the hallux HP:0010137 rdfs:label nl Driehoekige epifyse van de proximale falanx van de hallux CANDIDATE +en Triangular epiphysis of the proximal phalanx of the thumb HP:0009674 rdfs:label nl Driehoekige epifyse van de proximale falanx van de duim CANDIDATE +en Triangular face HP:0000325 rdfs:label nl Driehoekig gelaat CANDIDATE +en Triangular humerus HP:0003884 rdfs:label nl Driehoekige humerus CANDIDATE +en Triangular mouth HP:0000207 rdfs:label nl Driehoekige mond CANDIDATE +en Triangular nasal tip HP:0000451 rdfs:label nl Driehoekige neuspunt CANDIDATE +en Triangular nuclear cataract HP:0010699 rdfs:label nl Driehoekig nucleair cataract CANDIDATE +en Triangular shaped 1st metacarpal HP:0010033 rdfs:label nl Driehoekige 1e metacarpaal CANDIDATE +en Triangular shaped 1st metatarsal HP:0010074 rdfs:label nl Driehoekige 1e metatarsaal CANDIDATE +en Triangular shaped distal phalanges of the hand HP:0009875 rdfs:label nl Driehoekige distale falangen van de hand CANDIDATE +en Triangular shaped distal phalanges of the toes HP:0010192 rdfs:label nl Driehoekige distale falangen van de tenen CANDIDATE +en Triangular shaped distal phalanx of the 2nd finger HP:0009564 rdfs:label nl Driehoekige distale falanx van de 2e vinger CANDIDATE +en Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009564 IAO:0000115 nl Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped distal phalanx of the 2nd toe HP:0010420 rdfs:label nl Driehoekige distale falanx van de 2e teen CANDIDATE +en Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009427 IAO:0000115 nl Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped distal phalanx of the 3rd finger HP:0009427 rdfs:label nl Driehoekige distale falanx van de 3e vinger CANDIDATE +en Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009306 IAO:0000115 nl Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped distal phalanx of the 4th finger HP:0009306 rdfs:label nl Driehoekige distale falanx van de 4e vinger CANDIDATE +en Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009245 IAO:0000115 nl Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped distal phalanx of the 5th finger HP:0009245 rdfs:label nl Driehoekige distale falanx van de 5e vinger CANDIDATE +en Triangular shaped distal phalanx of the 5th toe HP:0100487 rdfs:label nl Driehoekige distale falanx van de 5e teen CANDIDATE +en Triangular shaped distal phalanx of the hallux HP:0010083 rdfs:label nl Driehoekige distale falanx van de hallux CANDIDATE +en Triangular shaped distal phalanx of the thumb HP:0009648 rdfs:label nl Driehoekige distale falanx van de duim CANDIDATE +en Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009648 IAO:0000115 nl Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped middle phalanges of the hand HP:0009850 rdfs:label nl Driehoekige middelste falangen van de hand CANDIDATE +en Triangular shaped middle phalanges of the toes HP:0010201 rdfs:label nl Driehoekige middelste falangen van de tenen CANDIDATE +en Triangular shaped middle phalanx of the 2nd finger HP:0009575 rdfs:label nl Driehoekige middelste falanx van de 2e vinger CANDIDATE +en Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009575 IAO:0000115 nl Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped middle phalanx of the 2nd toe HP:0010411 rdfs:label nl Driehoekige middelste falanx van de 2e vinger CANDIDATE +en Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009436 IAO:0000115 nl Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped middle phalanx of the 3rd finger HP:0009436 rdfs:label nl Driehoekige middelste falanx van de 3e vinger CANDIDATE +en Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009309 IAO:0000115 nl Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped middle phalanx of the 4th finger HP:0009309 rdfs:label nl Driehoekige middelste falanx van de 4e vinger CANDIDATE +en Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009182 IAO:0000115 nl Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped middle phalanx of the 5th finger HP:0009182 rdfs:label nl Driehoekige middelste falanx van de 5e vinger CANDIDATE +en Triangular shaped phalanges of the 2nd finger HP:0009546 rdfs:label nl Driehoekige falangen van de 2e vinger CANDIDATE +en Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009546 IAO:0000115 nl Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped phalanges of the 2nd toe HP:0010354 rdfs:label nl Driehoekige falangen van de 2e teen CANDIDATE +en Triangular shaped phalanges of the 3rd finger HP:0009446 rdfs:label nl Driehoekige falangen van de 3e vinger CANDIDATE +en Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009446 IAO:0000115 nl Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped phalanges of the 3rd toe HP:0010366 rdfs:label nl Driehoekige falangen van de 3e teen CANDIDATE +en Triangular shaped phalanges of the 4th finger HP:0009407 rdfs:label nl Driehoekige falangen van de 4e vinger CANDIDATE +en Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009407 IAO:0000115 nl Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped phalanges of the 4th toe HP:0010378 rdfs:label nl Driehoekige falangen van de 4e teen CANDIDATE +en Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009378 IAO:0000115 nl Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped phalanges of the 5th finger HP:0009378 rdfs:label nl Driehoekige falangen van de 5e vinger CANDIDATE +en Triangular shaped phalanges of the 5th toe HP:0010390 rdfs:label nl Driehoekige falangen van de 5e teen CANDIDATE +en Triangular shaped phalanges of the hallux HP:0010065 rdfs:label nl Driehoekige falangen van de hallux CANDIDATE +en Triangular shaped phalanges of the hand HP:0009774 rdfs:label nl Driehoekige falangen van de hand CANDIDATE +en Triangular shaped phalanges of the toes HP:0010180 rdfs:label nl Driehoekige teenfalangen CANDIDATE +en Triangular shaped proximal phalanges of the hand HP:0009858 rdfs:label nl Driehoekige proximale falangen van de hand CANDIDATE +en Triangular shaped proximal phalanges of the toes HP:0010210 rdfs:label nl Driehoekige proximale falangen van de tenen CANDIDATE +en Triangular shaped proximal phalanx of the 2nd finger HP:0009587 rdfs:label nl Driehoekige proximale falanx van de 2e vinger CANDIDATE +en Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009587 IAO:0000115 nl Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped proximal phalanx of the 2nd toe HP:0010402 rdfs:label nl Driehoekige proximale falanx van de 2e vinger CANDIDATE +en Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009456 IAO:0000115 nl Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped proximal phalanx of the 3rd finger HP:0009456 rdfs:label nl Driehoekige proximale falanx van de 3e vinger CANDIDATE +en Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009315 IAO:0000115 nl Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped proximal phalanx of the 4th finger HP:0009315 rdfs:label nl Driehoekige proximale falanx van de 4e vinger CANDIDATE +en Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx HP:0009233 IAO:0000115 nl Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx NOT_TRANSLATED +en Triangular shaped proximal phalanx of the 5th finger HP:0009233 rdfs:label nl Driehoekige proximale falanx van de 5e vinger CANDIDATE +en Triangular shaped proximal phalanx of the hallux HP:0010092 rdfs:label nl Driehoekige proximale falanx van de hallux CANDIDATE +en Triangular shaped proximal phalanx of the thumb HP:0009636 IAO:0000115 nl Triangular shaped proximal phalanx of the thumb NOT_TRANSLATED +en Triangular shaped proximal phalanx of the thumb HP:0009636 rdfs:label nl Driehoekige proximale falanx van de duim CANDIDATE +en Triangular shaped thumb phalanx HP:0009657 rdfs:label nl Driehoekig falanx van de duim CANDIDATE +en Triangular tibia HP:0031260 rdfs:label nl Driehoekige tibia CANDIDATE +en Triangular tongue HP:0030284 rdfs:label nl Driehoekige tong CANDIDATE +en Triangular-shaped open mouth HP:0200096 rdfs:label nl Triangel-vormige open mond CANDIDATE +en Triceps aplasia HP:0009785 rdfs:label nl Triceps aplasie CANDIDATE +en Triceps areflexia HP:0033228 rdfs:label nl Triceps areflexia NOT_TRANSLATED +en Triceps hyperreflexia HP:0033204 rdfs:label nl Triceps hyperreflexia NOT_TRANSLATED +en Triceps hypoplasia HP:0100855 rdfs:label nl Triceps hypoplasie CANDIDATE +en Triceps hyporeflexia HP:0033200 rdfs:label nl Triceps hyporeflexia NOT_TRANSLATED +en Triceps weakness HP:0031108 rdfs:label nl Triceps zwakte CANDIDATE +en Trichiasis HP:0001128 rdfs:label nl Trichiasis CANDIDATE +en Trichilemmal cyst HP:0025246 rdfs:label nl Trichilemmale cyste CANDIDATE +en Trichilemmoma HP:0012844 rdfs:label nl Trichilemmoom CANDIDATE +en Trichodiscoma HP:0032228 rdfs:label nl Trichodiscoma NOT_TRANSLATED +en Trichodysplasia HP:0002552 rdfs:label nl Trichodysplasie CANDIDATE +en Trichoepithelioma HP:0025367 rdfs:label nl Trichoepithelioom CANDIDATE +en Trichorrhexis nodosa HP:0009886 rdfs:label nl Trichorrhexis nodosa CANDIDATE +en Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair HP:0009886 IAO:0000115 nl Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair NOT_TRANSLATED +en Trichoschisis HP:0034354 rdfs:label nl Trichoschisis NOT_TRANSLATED +en Tricuspid atresia HP:0011662 rdfs:label nl Tricuspidalis atresie CANDIDATE +en Tricuspid regurgitation HP:0005180 rdfs:label nl Tricuspide regurgitatie CANDIDATE +en Tricuspid stenosis HP:0010446 rdfs:label nl Tricuspidalisstenose CANDIDATE +en Tricuspid valve prolapse HP:0001704 rdfs:label nl Tricuspidalisklepprolaps CANDIDATE +en Trident acetabulum HP:0034374 rdfs:label nl Trident acetabulum NOT_TRANSLATED +en Trident hand HP:0004060 rdfs:label nl Trident hand NOT_TRANSLATED +en Trident pelvis HP:0034044 rdfs:label nl Trident pelvis NOT_TRANSLATED +en Trifascicular block HP:0011715 rdfs:label nl Trifasciculair blok CANDIDATE +en Trigeminal anesthesia HP:0031912 rdfs:label nl Trigeminal anesthesia NOT_TRANSLATED +en Trigeminal neuralgia HP:0100661 rdfs:label nl Trigeminus neuralgie CANDIDATE +en Triggered by HP:0025204 rdfs:label nl Uitgelokt door CANDIDATE +en Triggered by EBV infection HP:0033185 rdfs:label nl Triggered by EBV infection NOT_TRANSLATED +en Triggered by allopurinol HP:4000102 rdfs:label nl Triggered by allopurinol NOT_TRANSLATED +en Triggered by an abusive adult HP:0033032 rdfs:label nl Triggered by an abusive adult NOT_TRANSLATED +en Triggered by anesthetics HP:0500261 rdfs:label nl Triggered by anesthetics NOT_TRANSLATED +en Triggered by angiotensin-converting enzyme inhibitor HP:4000133 rdfs:label nl Triggered by angiotensin-converting enzyme inhibitor NOT_TRANSLATED +en Triggered by breast feeding HP:0025205 rdfs:label nl Uitgelokt door borstvoeding CANDIDATE +en Triggered by carbohydrate ingestion HP:0025208 rdfs:label nl Uitgelokt door koolhydraat inname CANDIDATE +en Triggered by cheese ingestion HP:0033789 rdfs:label nl Triggered by cheese ingestion NOT_TRANSLATED +en Triggered by cold HP:0025206 rdfs:label nl Uitgelokt door kou CANDIDATE +en Triggered by dehydration HP:0025207 rdfs:label nl Uitgelokt door dehydratie CANDIDATE +en Triggered by electromagnetic field HP:4000109 rdfs:label nl Triggered by electromagnetic field NOT_TRANSLATED +en Triggered by emotion HP:0025334 rdfs:label nl Uitgelokt door emotie CANDIDATE +en Triggered by ethanol ingestion HP:0025211 rdfs:label nl Uitgelokt door ethanol inname CANDIDATE +en Triggered by excitement HP:0025227 rdfs:label nl Uitgelokt door opwinding CANDIDATE +en Triggered by exertion HP:0025377 rdfs:label nl Uitgelokt door inspanning CANDIDATE +en Triggered by exposure to medication HP:4000101 rdfs:label nl Triggered by exposure to medication NOT_TRANSLATED +en Triggered by fasting HP:0025212 rdfs:label nl Uitgelokt door vasten CANDIDATE +en Triggered by fava bean ingestion HP:0034060 rdfs:label nl Triggered by fava bean ingestion NOT_TRANSLATED +en Triggered by febrile illness HP:0025215 rdfs:label nl Uitgelokt door koortsende ziekte CANDIDATE +en Triggered by food ingestion HP:0033793 rdfs:label nl Triggered by food ingestion NOT_TRANSLATED +en Triggered by fructose ingestion HP:0025209 rdfs:label nl Uitgelokt door fructose inname CANDIDATE +en Triggered by galactose ingestion HP:0025213 rdfs:label nl Uitgelokt door galactose inname CANDIDATE +en Triggered by glucose ingestion HP:0025210 rdfs:label nl Uitgelokt door glucose inname CANDIDATE +en Triggered by head trauma HP:0500260 rdfs:label nl Triggered by head trauma NOT_TRANSLATED +en Triggered by heat HP:0025214 rdfs:label nl Uitgelokt door hitte CANDIDATE +en Triggered by heavy meal HP:0025216 rdfs:label nl Uitgelokt door grote maaltijd CANDIDATE +en Triggered by high-fat diet HP:0025217 rdfs:label nl Uitgelokt door vetrijk dieet CANDIDATE +en Triggered by hyperventilation HP:0025218 rdfs:label nl Uitgelokt door hyperventilatie CANDIDATE +en Triggered by infection HP:0033184 rdfs:label nl Triggered by infection NOT_TRANSLATED +en Triggered by ingestion of potassium-rich food HP:0031167 rdfs:label nl Uitgelokt door inname van kalium-rijk voedsel CANDIDATE +en Triggered by menstruation HP:0025220 rdfs:label nl Uitgelokt door menstruatie CANDIDATE +en Triggered by muscle relaxant HP:0034195 rdfs:label nl Triggered by muscle relaxant NOT_TRANSLATED +en Triggered by nickel HP:4000120 rdfs:label nl Triggered by nickel NOT_TRANSLATED +en Triggered by physical trauma HP:0031135 rdfs:label nl Uitgelokt door fysiek trauma CANDIDATE +en Triggered by poison ivy, poson oak, or sumac HP:4000121 rdfs:label nl Triggered by poison ivy, poson oak, or sumac NOT_TRANSLATED +en Triggered by pregnancy HP:0025221 rdfs:label nl Uitgelokt door zwangerschap CANDIDATE +en Triggered by sleep deprivation HP:0025222 rdfs:label nl Uitgelokt door slaap deprivatie CANDIDATE +en Triggered by smoking HP:0025223 rdfs:label nl Uitgelokt door roken CANDIDATE +en Triggered by sodium ingestion HP:0025224 rdfs:label nl Uitgelokt door natrium inname CANDIDATE +en Triggered by sound HP:0025225 rdfs:label nl Uitgelokt door geluid CANDIDATE +en Triggered by stress HP:0025226 rdfs:label nl Uitgelokt door stress CANDIDATE +en Triggered by sudden movement HP:0025228 rdfs:label nl Uitgelokt door plotselinge beweging CANDIDATE +en Triggered by vaccination HP:0025219 rdfs:label nl Uitgelokt door vaccinatie CANDIDATE +en Triggered by vestibular stimulation HP:0025229 rdfs:label nl Uitgelokt door vestibulaire stimulatie CANDIDATE +en Triggered by viral infection HP:0033198 rdfs:label nl Triggered by viral infection NOT_TRANSLATED +en Trigonocephaly HP:0000243 rdfs:label nl Trigonocefalie CANDIDATE +en Trilobar skull configuration when viewed from the front or behind HP:0002676 IAO:0000115 nl Trilobar skull configuration when viewed from the front or behind NOT_TRANSLATED +en Trimethylaminuria HP:0003614 rdfs:label nl Trimethylaminurie CANDIDATE +en Triphalangeal hallux HP:0032612 rdfs:label nl Triphalangeal hallux NOT_TRANSLATED +en Triphalangeal thumb HP:0001199 rdfs:label nl Triphalangeale duim CANDIDATE +en Triplication of the spinal cord - extremely rare HP:0100564 IAO:0000115 nl Triplication of the spinal cord - extremely rare NOT_TRANSLATED +en Triplomyelia HP:0100564 rdfs:label nl Triplomyelie CANDIDATE +en Trismus HP:0000211 rdfs:label nl Trismus CANDIDATE +en Tritanomaly HP:0000552 rdfs:label nl Tritanomalie CANDIDATE +en Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails HP:0010834 IAO:0000115 nl Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails NOT_TRANSLATED +en Trophic changes occurring in a limb HP:0003091 IAO:0000115 nl Trophic changes occurring in a limb NOT_TRANSLATED +en Trophic changes related to pain HP:0010834 rdfs:label nl Trofische veranderingen gerelateerd aan pijn CANDIDATE +en Trophic limb changes HP:0003091 rdfs:label nl Trofische ledemaat wijzigingen CANDIDATE +en Trophoblastic tumor HP:0031502 rdfs:label nl Trofoblastische tumor CANDIDATE +en True anophthalmia HP:0011478 rdfs:label nl Ware anoftalmie CANDIDATE +en True distance exotropia HP:0031719 rdfs:label nl True distance exotropia NOT_TRANSLATED +en True ependymal rosette HP:0031928 rdfs:label nl True ependymal rosette NOT_TRANSLATED +en True hermaphroditism HP:0010459 rdfs:label nl Echt hermafroditisme CANDIDATE +en Truncal ataxia HP:0002078 rdfs:label nl Truncale ataxie CANDIDATE +en Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting HP:0002078 IAO:0000115 nl Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting NOT_TRANSLATED +en Truncal obesity HP:0001956 rdfs:label nl Truncale obesitas CANDIDATE +en Truncal obesity with onset during childhood, defined as between 2 and 10 years of age HP:0008915 IAO:0000115 nl Truncal obesity with onset during childhood, defined as between 2 and 10 years of age NOT_TRANSLATED +en Truncal titubation HP:0030147 rdfs:label nl Truncale titubatie CANDIDATE +en Truncus arteriosus HP:0001660 rdfs:label nl Truncus arteriosus CANDIDATE +en Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta HP:0011609 IAO:0000115 nl Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta NOT_TRANSLATED +en Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present HP:0011610 IAO:0000115 nl Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present NOT_TRANSLATED +en Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries HP:0004384 IAO:0000115 nl Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries NOT_TRANSLATED +en Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus HP:0011608 IAO:0000115 nl Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus NOT_TRANSLATED +en Tryptophanuria HP:0003361 rdfs:label nl Tryptofanurie CANDIDATE +en Tube feeding HP:0033454 rdfs:label nl Tube feeding NOT_TRANSLATED +en Tuberous xanthoma HP:0031290 rdfs:label nl Tubereuze xanthomen CANDIDATE +en Tubo-ovarian abscess HP:0034493 rdfs:label nl Tubo-ovarian abscess NOT_TRANSLATED +en Tubular basement membrane disintegration HP:0005583 rdfs:label nl Tubulaire membraan desintegratie CANDIDATE +en Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen HP:0032607 IAO:0000115 nl Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen NOT_TRANSLATED +en Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved HP:0032595 IAO:0000115 nl Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved NOT_TRANSLATED +en Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts HP:0032603 IAO:0000115 nl Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts NOT_TRANSLATED +en Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size HP:0032596 IAO:0000115 nl Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size NOT_TRANSLATED +en Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule HP:0032598 IAO:0000115 nl Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule NOT_TRANSLATED +en Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment HP:0032611 IAO:0000115 nl Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment NOT_TRANSLATED +en Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration HP:0032604 IAO:0000115 nl Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration NOT_TRANSLATED +en Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view HP:0032601 IAO:0000115 nl Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view NOT_TRANSLATED +en Tubular epithelium with nucleoli clearly visible at 100-fold magnification HP:0032602 IAO:0000115 nl Tubular epithelium with nucleoli clearly visible at 100-fold magnification NOT_TRANSLATED +en Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell HP:0032600 IAO:0000115 nl Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell NOT_TRANSLATED +en Tubular luminal dilatation HP:0032622 rdfs:label nl Tubular luminal dilatation NOT_TRANSLATED +en Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells HP:0041050 IAO:0000115 nl Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells NOT_TRANSLATED +en Tubular metacarpal bones HP:0006166 rdfs:label nl Tubulaire metacarpalen CANDIDATE +en Tubular microcystic change HP:0032962 rdfs:label nl Tubular microcystic change NOT_TRANSLATED +en Tubularization of Bowman capsule HP:0032648 rdfs:label nl Tubularization of Bowman capsule NOT_TRANSLATED +en Tubulointerstitial bacterial infiltration HP:0020204 rdfs:label nl Tubulointerstitial bacterial infiltration NOT_TRANSLATED +en Tubulointerstitial fibrosis HP:0005576 rdfs:label nl Tubulointerstitiële fibrose CANDIDATE +en Tubulointerstitial fungal infiltration HP:0020205 rdfs:label nl Tubulointerstitial fungal infiltration NOT_TRANSLATED +en Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains HP:0020204 IAO:0000115 nl Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains NOT_TRANSLATED +en Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains HP:0020205 IAO:0000115 nl Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains NOT_TRANSLATED +en Tubulointerstitial microganismal infiltration HP:0032635 rdfs:label nl Tubulointerstitial microganismal infiltration NOT_TRANSLATED +en Tubulointerstitial mycobacterial infiltration HP:0032610 rdfs:label nl Tubulointerstitial mycobacterial infiltration NOT_TRANSLATED +en Tubulointerstitial nephritis HP:0001970 rdfs:label nl Tubulointerstitiële nefritis CANDIDATE +en Tubulointerstitial viral infiltration HP:0032636 rdfs:label nl Tubulointerstitial viral infiltration NOT_TRANSLATED +en Tubulonodular pericallosal lipoma HP:0034014 rdfs:label nl Tubulonodular pericallosal lipoma NOT_TRANSLATED +en Tufted angioma HP:0012329 rdfs:label nl Getuft angioom CANDIDATE +en Tufted hairs HP:0031283 rdfs:label nl Tufted hairs NOT_TRANSLATED +en Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity HP:0012720 IAO:0000115 nl Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity NOT_TRANSLATED +en Tumor of the lung HP:0100526 IAO:0000115 nl Tumor of the lung NOT_TRANSLATED +en Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia) HP:0010734 IAO:0000115 nl Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia) NOT_TRANSLATED +en Turricephaly HP:0000262 rdfs:label nl Turricefalie CANDIDATE +en Twelfth rib hypoplasia HP:0006668 rdfs:label nl Twaalfde rib hypoplasie CANDIDATE +en Twin-to-twin transfusion HP:0031110 rdfs:label nl Tweelingtransfusiesyndroom CANDIDATE +en Twisted position of the tibia (shin bone) associated with pathological rotation of the leg HP:0100694 IAO:0000115 nl Twisted position of the tibia (shin bone) associated with pathological rotation of the leg NOT_TRANSLATED +en Two carpal ossification centers present at birth HP:0006176 rdfs:label nl Twee centra van carpale ossificatie aanwezig tijdens geboorte CANDIDATE +en Two clitorides located side by side HP:0030911 IAO:0000115 nl Two clitorides located side by side NOT_TRANSLATED +en Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats HP:0034039 IAO:0000115 nl Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats NOT_TRANSLATED +en Two penile structures, separated from the tip to the base of the shaft HP:0100599 IAO:0000115 nl Two penile structures, separated from the tip to the base of the shaft NOT_TRANSLATED +en Two sided hypoplasia of the kidney HP:0012584 IAO:0000115 nl Two sided hypoplasia of the kidney NOT_TRANSLATED +en Two-raphe bicuspid aortic valve HP:0031122 rdfs:label nl Two-raphe bicuspid aortic valve NOT_TRANSLATED +en Two-sided or bilateral weakness of the muscles of facial expression and eye closure HP:0430025 IAO:0000115 nl Two-sided or bilateral weakness of the muscles of facial expression and eye closure NOT_TRANSLATED +en Tympanosclerosis HP:0020123 rdfs:label nl Tympanosclerosis NOT_TRANSLATED +en Type 1 and type 2 muscle fiber minicore regions HP:0003787 rdfs:label nl Type 1 en type 2 spiervezel minicore regio's CANDIDATE +en Type 1 collagen overmodification HP:0003784 rdfs:label nl Type 1 collageen overmodificatie CANDIDATE +en Type 1 congenital pulmonary airway malformation HP:0025725 rdfs:label nl Type 1 congenital pulmonary airway malformation NOT_TRANSLATED +en Type 1 fibers relatively smaller than type 2 fibers HP:0003755 rdfs:label nl Type 1 vezels relatief kleiner dan type 2 vezels CANDIDATE +en Type 1 muscle fiber atrophy HP:0011807 rdfs:label nl Type 1 spiervezelatrofie CANDIDATE +en Type 1 muscle fiber predominance HP:0003803 rdfs:label nl Type 1 spiervezel overheersing CANDIDATE +en Type 1 schizencephaly HP:0025702 rdfs:label nl Type 1 schizencephaly NOT_TRANSLATED +en Type 1 total anomalous pulmonary venous connection HP:0011719 IAO:0000115 nl Type 1 total anomalous pulmonary venous connection NOT_TRANSLATED +en Type 2 congenital pulmonary airway malformation HP:0025726 rdfs:label nl Type 2 congenital pulmonary airway malformation NOT_TRANSLATED +en Type 2 muscle fiber atrophy HP:0003554 rdfs:label nl Type 2 spiervezelatrofie CANDIDATE +en Type 2 muscle fiber predominance HP:0010602 rdfs:label nl Overheersing van type 2 spiervezel CANDIDATE +en Type 2 schizencephaly HP:0025703 rdfs:label nl Type 2 schizencephaly NOT_TRANSLATED +en Type 2 total anomalous pulmonary venous connection HP:0011720 IAO:0000115 nl Type 2 total anomalous pulmonary venous connection NOT_TRANSLATED +en Type 3 congenital pulmonary airway malformation HP:0025727 rdfs:label nl Type 3 congenital pulmonary airway malformation NOT_TRANSLATED +en Type 3 schizencephaly HP:0025704 rdfs:label nl Type 3 schizencephaly NOT_TRANSLATED +en Type 3 total anomalous pulmonary venous connection HP:0011721 IAO:0000115 nl Type 3 total anomalous pulmonary venous connection NOT_TRANSLATED +en Type 4 total anomalous pulmonary venous connection HP:0011722 IAO:0000115 nl Type 4 total anomalous pulmonary venous connection NOT_TRANSLATED +en Type A brachydactyly HP:0009370 rdfs:label nl Type A brachydactylie CANDIDATE +en Type A1 brachydactyly HP:0009371 rdfs:label nl Type A1 brachydactylie CANDIDATE +en Type A2 brachydactyly HP:0009372 rdfs:label nl Type A2 brachydactylie CANDIDATE +en Type A4 brachydactyly HP:0031043 rdfs:label nl Type A4 brachydactylie CANDIDATE +en Type A5 brachydactyly HP:0031044 rdfs:label nl Type A5 brachydactylie CANDIDATE +en Type B brachydactyly HP:0005831 rdfs:label nl Type B brachydactylie CANDIDATE +en Type C brachydactyly HP:0009373 rdfs:label nl Type C brachydactylie CANDIDATE +en Type D brachydactyly HP:0005627 rdfs:label nl Type D brachydactylie CANDIDATE +en Type E brachydactyly HP:0005863 rdfs:label nl Type E brachydactylie CANDIDATE +en Type I atherosclerotic lesion HP:0031679 rdfs:label nl Type IV atherosclerotische laesie CANDIDATE +en Type I cryptotia HP:0011253 rdfs:label nl Type I cryptotie CANDIDATE +en Type I diabetes mellitus HP:0100651 rdfs:label nl Type 1 diabetes mellitus CANDIDATE +en Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells) HP:0031679 IAO:0000115 nl Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells) NOT_TRANSLATED +en Type I transferrin isoform profile HP:0003642 rdfs:label nl Type 1 transferrine isoform profiel CANDIDATE +en Type I truncus arteriosus HP:0004384 rdfs:label nl Type 1 truncus arteriosus CANDIDATE +en Type II atherosclerotic lesion HP:0031680 rdfs:label nl Type II atherosclerotische laesie CANDIDATE +en Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid HP:0031680 IAO:0000115 nl Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid NOT_TRANSLATED +en Type II cryptotia HP:0011254 rdfs:label nl Type II cryptotie CANDIDATE +en Type II diabetes mellitus HP:0005978 rdfs:label nl Type 2 diabetes mellitus CANDIDATE +en Type II lissencephaly HP:0007260 rdfs:label nl Type II lissencefalie CANDIDATE +en Type II pneumocyte hyperplasia HP:0033328 rdfs:label nl Type II pneumocyte hyperplasia NOT_TRANSLATED +en Type II pneumocyte hypertrophy HP:0033246 rdfs:label nl Type II pneumocyte hypertrophy NOT_TRANSLATED +en Type II transferrin isoform profile HP:0012301 rdfs:label nl Type 2 transferrine isoform profiel CANDIDATE +en Type II truncus arteriosus HP:0011608 rdfs:label nl Type II truncus arteriosus CANDIDATE +en Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions HP:0031681 IAO:0000115 nl Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions NOT_TRANSLATED +en Type III atherosclerotic lesion HP:0031681 rdfs:label nl Type III atherosclerotische laesie CANDIDATE +en Type III truncus arteriosus HP:0011609 rdfs:label nl Type III truncus arteriosus CANDIDATE +en Type IV atherosclerotic lesion HP:0002635 rdfs:label nl Type IV atherosclerotische laesies CANDIDATE +en Type IV truncus arteriosus HP:0011610 rdfs:label nl Type IV truncus arteriosus CANDIDATE +en Type V atherosclerotic lesion HP:0031682 rdfs:label nl Type V atherosclerotische laesie CANDIDATE +en Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant HP:0031682 IAO:0000115 nl Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant NOT_TRANSLATED +en Type VI atherosclerotic lesion HP:0031683 rdfs:label nl Type VI atherosclerotische laesie CANDIDATE +en Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes HP:0031683 IAO:0000115 nl Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes NOT_TRANSLATED +en Typical absence seizure HP:0011147 rdfs:label nl Typische absence aanvallen CANDIDATE +en Typical absence seizures starting before the age of 4 years HP:0011152 IAO:0000115 nl Typical absence seizures starting before the age of 4 years NOT_TRANSLATED +en Typical absence status epilepticus HP:0032863 rdfs:label nl Typical absence status epilepticus NOT_TRANSLATED +en Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure HP:0032863 IAO:0000115 nl Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure NOT_TRANSLATED +en Typical atrial flutter HP:0031671 rdfs:label nl Typische atriale flutter CANDIDATE +en Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative HP:0031671 IAO:0000115 nl Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative NOT_TRANSLATED +en Typical perifissural nodule HP:0033619 rdfs:label nl Typical perifissural nodule NOT_TRANSLATED +en Typically de novo HP:0025352 rdfs:label nl Autosomale dominante do novo kiembaan mutatie CANDIDATE +en Typified by age-related disease onset HP:0003831 rdfs:label nl Leeftijds-afhankelijke penetrantie CANDIDATE +en Typified by high penetrance HP:4000158 rdfs:label nl Typified by high penetrance NOT_TRANSLATED +en Typified by incomplete penetrance HP:0003829 rdfs:label nl Incomplete penetrantie CANDIDATE +en Typified by low penetrance HP:4000160 rdfs:label nl Typified by low penetrance NOT_TRANSLATED +en Typified by moderate penetrance HP:4000159 rdfs:label nl Typified by moderate penetrance NOT_TRANSLATED +en Tyrosinuria HP:0033091 rdfs:label nl Tyrosinuria NOT_TRANSLATED +en U wave inversion HP:0025071 rdfs:label nl Inversie van de U-golf CANDIDATE +en U wave inversion that is induced by exercise stress testing HP:0025073 IAO:0000115 nl U wave inversion that is induced by exercise stress testing NOT_TRANSLATED +en U-Shaped upper lip vermilion HP:0010806 rdfs:label nl U-vormig bovenste lip vermiljoen CANDIDATE +en Ubiquitin-positive cerebral inclusion bodies HP:0012083 rdfs:label nl Ubiquitine-positieve cerebrale inclusielichaampjes CANDIDATE +en Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium HP:0011724 IAO:0000115 nl Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium NOT_TRANSLATED +en Uhl's anomaly HP:0011724 rdfs:label nl Uhl-anomalie CANDIDATE +en Ulcerative colitis HP:0100279 rdfs:label nl Colitis ulcerosa CANDIDATE +en Ulnar bowing HP:0003031 rdfs:label nl Bowing van ulna CANDIDATE +en Ulnar claw HP:0001178 rdfs:label nl Ulnaire klauw CANDIDATE +en Ulnar deviated club hands HP:0006055 rdfs:label nl Ulnar deviated club hands NOT_TRANSLATED +en Ulnar deviation of finger HP:0009465 rdfs:label nl Ulnaire deviatie van vinger CANDIDATE +en Ulnar deviation of the 2nd finger HP:0009464 rdfs:label nl Ulnaire deviatie van de 2e vinger CANDIDATE +en Ulnar deviation of the 3rd finger HP:0009463 rdfs:label nl Ulnaire deviatie van de 3e vinger CANDIDATE +en Ulnar deviation of the 4th finger HP:0009278 rdfs:label nl Ulnaire deviatie van de 4e vinger CANDIDATE +en Ulnar deviation of the 5th finger HP:0009180 rdfs:label nl Ulnaire deviatie van de 5e vinger CANDIDATE +en Ulnar deviation of the hand HP:0009487 rdfs:label nl Ulnaire deviatie van de hand CANDIDATE +en Ulnar deviation of the hand or of fingers of the hand HP:0001193 rdfs:label nl Ulnaire deviatie van de hand of vingers van de hand CANDIDATE +en Ulnar deviation of the wrist HP:0003049 rdfs:label nl Ulnaire deviatie van de pols CANDIDATE +en Ulnar deviation of thumb HP:0006156 rdfs:label nl Ulnaire deviatie van de duim CANDIDATE +en Ulnar metaphyseal irregularity HP:0004042 rdfs:label nl Irregulariteit van de metafyse van de ulna CANDIDATE +en Ulnar radial head dislocation HP:0005856 rdfs:label nl Ulnaire radiuskop dislocatie CANDIDATE +en Ultra-low vision HP:0032123 rdfs:label nl Ultra-low vision NOT_TRANSLATED +en Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm) HP:0032284 IAO:0000115 nl Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm) NOT_TRANSLATED +en Ultra-low vision but with retained ability to perceive the difference between light and dark HP:0032286 IAO:0000115 nl Ultra-low vision but with retained ability to perceive the difference between light and dark NOT_TRANSLATED +en Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus HP:0032285 IAO:0000115 nl Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus NOT_TRANSLATED +en Ultra-low vision with complete lack of light and form perception HP:0032287 IAO:0000115 nl Ultra-low vision with complete lack of light and form perception NOT_TRANSLATED +en Ultra-low vision with no light perception HP:0032287 rdfs:label nl Ultra-low vision with no light perception NOT_TRANSLATED +en Ultra-low vision with retained light perception HP:0032286 rdfs:label nl Ultra-low vision with retained light perception NOT_TRANSLATED +en Ultra-low vision with retained light projection HP:0032285 rdfs:label nl Ultra-low vision with retained light projection NOT_TRANSLATED +en Ultra-low vision with retained motion projection HP:0032284 rdfs:label nl Ultra-low vision with retained motion projection NOT_TRANSLATED +en Umbilical cord cyst HP:0030654 rdfs:label nl Navelstreng cyste CANDIDATE +en Umbilical cord hematoma HP:0030657 rdfs:label nl Navelstreng hematoom CANDIDATE +en Umbilical cord knot HP:0030655 rdfs:label nl Navelstreng knoop CANDIDATE +en Umbilical hernia HP:0001537 rdfs:label nl Navelbreuk CANDIDATE +en Umbilical vein varix HP:0030656 rdfs:label nl Varix van vena umbilicalis CANDIDATE +en Umbilicated nodule HP:0025103 rdfs:label nl Umbilicated nodule NOT_TRANSLATED +en Unaffected HP:0032321 rdfs:label nl Unaffected NOT_TRANSLATED +en Unaided visual acuity 0.1 LogMAR HP:0030536 rdfs:label nl Visus zonder hulp 0.1 LogMAR CANDIDATE +en Unaided visual acuity 0.2 LogMAR HP:0030537 rdfs:label nl Visus zonder hulp 0.2 LogMAR CANDIDATE +en Unaided visual acuity 0.3 LogMAR HP:0030538 rdfs:label nl Visus zonder hulp 0.3 LogMAR CANDIDATE +en Unaided visual acuity 0.4 LogMAR HP:0030539 rdfs:label nl Visus zonder hulp 0.4 LogMAR CANDIDATE +en Unaided visual acuity 0.5 LogMAR HP:0030540 rdfs:label nl Visus zonder hulp 0.5 LogMAR CANDIDATE +en Unaided visual acuity 0.6 LogMAR HP:0030541 rdfs:label nl Visus zonder hulp 0.6 LogMAR CANDIDATE +en Unaided visual acuity 0.7 LogMAR HP:0030542 rdfs:label nl Visus zonder hulp 0.7 LogMAR CANDIDATE +en Unaided visual acuity 0.8 LogMAR HP:0030543 rdfs:label nl Visus zonder hulp 0.8 LogMAR CANDIDATE +en Unaided visual acuity 0.9 LogMAR HP:0030544 rdfs:label nl Visus zonder hulp 0.9 LogMAR CANDIDATE +en Unaided visual acuity 1.0 LogMAR HP:0030545 rdfs:label nl Visus zonder hulp 1.0 LogMAR CANDIDATE +en Unaided visual acuity 1.1 LogMAR HP:0030546 rdfs:label nl Visus zonder hulp 1.1 LogMAR CANDIDATE +en Unaided visual acuity 1.2 LogMAR HP:0030547 rdfs:label nl Visus zonder hulp 1.2 LogMAR CANDIDATE +en Unaided visual acuity 1.3 LogMAR HP:0030548 rdfs:label nl Visus zonder hulp 1.3 LogMAR CANDIDATE +en Unaided visual acuity 2.0 LogMAR HP:0030549 rdfs:label nl Visus zonder hulp 2.0 LogMAR CANDIDATE +en Unaided visual acuity 3.0 LogMAR HP:0030550 rdfs:label nl Visus zonder hulp 3.0 LogMAR CANDIDATE +en Unbalanced atrioventricular canal defect HP:0011579 rdfs:label nl Ongebalanceerd atrioventriculair kanaaldefect CANDIDATE +en Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins HP:0033546 IAO:0000115 nl Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins NOT_TRANSLATED +en Uncombable hair HP:0002235 IAO:0000115 nl Uncombable hair NOT_TRANSLATED +en Uncombable hair HP:0030056 rdfs:label nl Onkambaar haar CANDIDATE +en Unconjugated hyperbilirubinemia HP:0008282 rdfs:label nl Ongeconjugeerde hyperbilirubinemie CANDIDATE +en Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations HP:0001663 IAO:0000115 nl Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations NOT_TRANSLATED +en Uncontrolled episodes of crying, without apparent motivating stimuli HP:0030215 IAO:0000115 nl Uncontrolled episodes of crying, without apparent motivating stimuli NOT_TRANSLATED +en Uncontrolled eye movements HP:0007738 rdfs:label nl Ongecontroleerde oogbewegingen CANDIDATE +en Underdeveloped acetabulae HP:0003274 IAO:0000115 nl Underdeveloped acetabulae NOT_TRANSLATED +en Underdeveloped antitragus HP:0011251 rdfs:label nl Onderontwikkelde antitragus CANDIDATE +en Underdeveloped crus of the helix HP:0009898 rdfs:label nl Onderontwikkelde crus helicis CANDIDATE +en Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin HP:0020117 IAO:0000115 nl Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin NOT_TRANSLATED +en Underdeveloped inferior crus of antihelix HP:0011239 rdfs:label nl Onderontwikkelde inferieure crus anthelicis CANDIDATE +en Underdeveloped nails of the fifth toes HP:0011937 IAO:0000115 nl Underdeveloped nails of the fifth toes NOT_TRANSLATED +en Underdeveloped nasal alae HP:0000430 rdfs:label nl Onderontwikkelde neusvleugels CANDIDATE +en Underdeveloped nasolabial fold HP:0010801 rdfs:label nl Onderontwikkelde nasolabiale plooi CANDIDATE +en Underdeveloped pedicle of the fifth lumbar vertebra HP:0030279 IAO:0000115 nl Underdeveloped pedicle of the fifth lumbar vertebra NOT_TRANSLATED +en Underdeveloped posterior communicating artery HP:0012519 IAO:0000115 nl Underdeveloped posterior communicating artery NOT_TRANSLATED +en Underdeveloped scapula HP:0000882 IAO:0000115 nl Underdeveloped scapula NOT_TRANSLATED +en Underdeveloped stem of antihelix HP:0011242 rdfs:label nl Onderontwikkelde stam van antihelix CANDIDATE +en Underdeveloped superior crus of antihelix HP:0011246 rdfs:label nl Onderontwikkelde superieure crus anthelicis CANDIDATE +en Underdeveloped supraorbital ridges HP:0009891 rdfs:label nl Onderontwikkelde supraorbitale plooien CANDIDATE +en Underdeveloped tragus HP:0011272 rdfs:label nl Onderontwikkelde tragus CANDIDATE +en Underdeveloped vertebral pedicle HP:0030278 IAO:0000115 nl Underdeveloped vertebral pedicle NOT_TRANSLATED +en Underdeveloped, small left heart atrium HP:0005156 IAO:0000115 nl Underdeveloped, small left heart atrium NOT_TRANSLATED +en Underdeveloped, small right heart atrium HP:0031294 IAO:0000115 nl Underdeveloped, small right heart atrium NOT_TRANSLATED +en Underdevelopment (hypoplasia) of a phalanx of big toe HP:0010111 IAO:0000115 nl Underdevelopment (hypoplasia) of a phalanx of big toe NOT_TRANSLATED +en Underdevelopment (hypoplasia) of the big toe HP:0010109 IAO:0000115 nl Underdevelopment (hypoplasia) of the big toe NOT_TRANSLATED +en Underdevelopment (hypoplasia) of the distal phalanx of big toe HP:0010103 IAO:0000115 nl Underdevelopment (hypoplasia) of the distal phalanx of big toe NOT_TRANSLATED +en Underdevelopment (hypoplasia) of the fifth toe HP:0011917 IAO:0000115 nl Underdevelopment (hypoplasia) of the fifth toe NOT_TRANSLATED +en Underdevelopment (hypoplasia) of the fourth toe HP:0008093 IAO:0000115 nl Underdevelopment (hypoplasia) of the fourth toe NOT_TRANSLATED +en Underdevelopment (hypoplasia) of the proximal phalanx of big toe HP:0010107 IAO:0000115 nl Underdevelopment (hypoplasia) of the proximal phalanx of big toe NOT_TRANSLATED +en Underdevelopment (hypoplasia) of the second toe HP:0001885 IAO:0000115 nl Underdevelopment (hypoplasia) of the second toe NOT_TRANSLATED +en Underdevelopment (hypoplasia) of the third toe HP:0005643 IAO:0000115 nl Underdevelopment (hypoplasia) of the third toe NOT_TRANSLATED +en Underdevelopment (reduced size) of the tibia HP:0005736 IAO:0000115 nl Underdevelopment (reduced size) of the tibia NOT_TRANSLATED +en Underdevelopment of a fingernail HP:0001804 IAO:0000115 nl Underdevelopment of a fingernail NOT_TRANSLATED +en Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm HP:0005773 IAO:0000115 nl Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm NOT_TRANSLATED +en Underdevelopment of frontal sinus HP:0002738 IAO:0000115 nl Underdevelopment of frontal sinus NOT_TRANSLATED +en Underdevelopment of muscles of the arm HP:0009016 IAO:0000115 nl Underdevelopment of muscles of the arm NOT_TRANSLATED +en Underdevelopment of muscles of the neck HP:0008984 IAO:0000115 nl Underdevelopment of muscles of the neck NOT_TRANSLATED +en Underdevelopment of muscles of the shoulder HP:0008952 IAO:0000115 nl Underdevelopment of muscles of the shoulder NOT_TRANSLATED +en Underdevelopment of one or more carpal bones HP:0001498 IAO:0000115 nl Underdevelopment of one or more carpal bones NOT_TRANSLATED +en Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve) HP:0004660 IAO:0000115 nl Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve) NOT_TRANSLATED +en Underdevelopment of part or all of the external reproductive organs HP:0003241 IAO:0000115 nl Underdevelopment of part or all of the external reproductive organs NOT_TRANSLATED +en Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris) HP:0012815 IAO:0000115 nl Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris) NOT_TRANSLATED +en Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra) HP:0000050 IAO:0000115 nl Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra) NOT_TRANSLATED +en Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone HP:0004686 IAO:0000115 nl Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone NOT_TRANSLATED +en Underdevelopment of the abdominal musculature HP:0005247 IAO:0000115 nl Underdevelopment of the abdominal musculature NOT_TRANSLATED +en Underdevelopment of the alveolar process (also known as alveolar bone) HP:0006329 IAO:0000115 nl Underdevelopment of the alveolar process (also known as alveolar bone) NOT_TRANSLATED +en Underdevelopment of the anterior commissure HP:0030303 IAO:0000115 nl Underdevelopment of the anterior commissure NOT_TRANSLATED +en Underdevelopment of the anterior nasal spine of maxilla HP:0010666 IAO:0000115 nl Underdevelopment of the anterior nasal spine of maxilla NOT_TRANSLATED +en Underdevelopment of the anterior pituitary gland HP:0010627 IAO:0000115 nl Underdevelopment of the anterior pituitary gland NOT_TRANSLATED +en Underdevelopment of the arch of aorta HP:0012304 IAO:0000115 nl Underdevelopment of the arch of aorta NOT_TRANSLATED +en Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple HP:0100853 IAO:0000115 nl Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple NOT_TRANSLATED +en Underdevelopment of the biceps muscle HP:0009007 IAO:0000115 nl Underdevelopment of the biceps muscle NOT_TRANSLATED +en Underdevelopment of the body of ilium HP:0008824 IAO:0000115 nl Underdevelopment of the body of ilium NOT_TRANSLATED +en Underdevelopment of the bony pelvis HP:0008839 IAO:0000115 nl Underdevelopment of the bony pelvis NOT_TRANSLATED +en Underdevelopment of the brainstem HP:0002365 IAO:0000115 nl Underdevelopment of the brainstem NOT_TRANSLATED +en Underdevelopment of the breast HP:0003187 IAO:0000115 nl Underdevelopment of the breast NOT_TRANSLATED +en Underdevelopment of the breast on both sides HP:0012814 IAO:0000115 nl Underdevelopment of the breast on both sides NOT_TRANSLATED +en Underdevelopment of the breast on one side only HP:0012813 IAO:0000115 nl Underdevelopment of the breast on one side only NOT_TRANSLATED +en Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse HP:0032045 IAO:0000115 nl Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse NOT_TRANSLATED +en Underdevelopment of the cerebral white matter HP:0012430 IAO:0000115 nl Underdevelopment of the cerebral white matter NOT_TRANSLATED +en Underdevelopment of the cerebrum HP:0006872 IAO:0000115 nl Underdevelopment of the cerebrum NOT_TRANSLATED +en Underdevelopment of the ciliary body HP:0007774 IAO:0000115 nl Underdevelopment of the ciliary body NOT_TRANSLATED +en Underdevelopment of the colon HP:0005210 IAO:0000115 nl Underdevelopment of the colon NOT_TRANSLATED +en Underdevelopment of the corpus callosum HP:0002079 IAO:0000115 nl Underdevelopment of the corpus callosum NOT_TRANSLATED +en Underdevelopment of the deltoid muscle HP:0030241 IAO:0000115 nl Underdevelopment of the deltoid muscle NOT_TRANSLATED +en Underdevelopment of the dilatator pupillae HP:0008345 IAO:0000115 nl Underdevelopment of the dilatator pupillae NOT_TRANSLATED +en Underdevelopment of the distal epiphysis of the radius HP:0006386 IAO:0000115 nl Underdevelopment of the distal epiphysis of the radius NOT_TRANSLATED +en Underdevelopment of the distal portion of the humerus HP:0005025 IAO:0000115 nl Underdevelopment of the distal portion of the humerus NOT_TRANSLATED +en Underdevelopment of the distal portion of the ulna HP:0005033 IAO:0000115 nl Underdevelopment of the distal portion of the ulna NOT_TRANSLATED +en Underdevelopment of the external ear HP:0008551 IAO:0000115 nl Underdevelopment of the external ear NOT_TRANSLATED +en Underdevelopment of the femoral head HP:0008802 IAO:0000115 nl Underdevelopment of the femoral head NOT_TRANSLATED +en Underdevelopment of the fibula HP:0003038 IAO:0000115 nl Underdevelopment of the fibula NOT_TRANSLATED +en Underdevelopment of the fovea centralis HP:0007750 IAO:0000115 nl Underdevelopment of the fovea centralis NOT_TRANSLATED +en Underdevelopment of the frontal bone HP:0005466 IAO:0000115 nl Underdevelopment of the frontal bone NOT_TRANSLATED +en Underdevelopment of the frontal lobe of the cerebrum HP:0007333 IAO:0000115 nl Underdevelopment of the frontal lobe of the cerebrum NOT_TRANSLATED +en Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule HP:0034051 IAO:0000115 nl Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule NOT_TRANSLATED +en Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus HP:0006633 IAO:0000115 nl Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus NOT_TRANSLATED +en Underdevelopment of the heel bone HP:0012789 IAO:0000115 nl Underdevelopment of the heel bone NOT_TRANSLATED +en Underdevelopment of the helix that either affects the entire helix, or is localized HP:0008577 IAO:0000115 nl Underdevelopment of the helix that either affects the entire helix, or is localized NOT_TRANSLATED +en Underdevelopment of the helix, i.e., of the outer rim of the pinna HP:0008589 IAO:0000115 nl Underdevelopment of the helix, i.e., of the outer rim of the pinna NOT_TRANSLATED +en Underdevelopment of the hippocampus HP:0025517 IAO:0000115 nl Underdevelopment of the hippocampus NOT_TRANSLATED +en Underdevelopment of the humerus HP:0005792 IAO:0000115 nl Underdevelopment of the humerus NOT_TRANSLATED +en Underdevelopment of the iliac bones HP:0100866 IAO:0000115 nl Underdevelopment of the iliac bones NOT_TRANSLATED +en Underdevelopment of the ilium HP:0000946 IAO:0000115 nl Underdevelopment of the ilium NOT_TRANSLATED +en Underdevelopment of the ilium ala HP:0002866 IAO:0000115 nl Underdevelopment of the ilium ala NOT_TRANSLATED +en Underdevelopment of the inferior portion of the vermis of cerebellum HP:0007068 IAO:0000115 nl Underdevelopment of the inferior portion of the vermis of cerebellum NOT_TRANSLATED +en Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone HP:0010790 IAO:0000115 nl Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone NOT_TRANSLATED +en Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium HP:0008822 IAO:0000115 nl Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium NOT_TRANSLATED +en Underdevelopment of the ischium, which forms the lower and back part of the hip bone HP:0003175 IAO:0000115 nl Underdevelopment of the ischium, which forms the lower and back part of the hip bone NOT_TRANSLATED +en Underdevelopment of the lacrimal gland HP:0007732 IAO:0000115 nl Underdevelopment of the lacrimal gland NOT_TRANSLATED +en Underdevelopment of the lacrimal puncta HP:0007892 IAO:0000115 nl Underdevelopment of the lacrimal puncta NOT_TRANSLATED +en Underdevelopment of the larynx HP:0008749 IAO:0000115 nl Underdevelopment of the larynx NOT_TRANSLATED +en Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula HP:0009026 IAO:0000115 nl Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula NOT_TRANSLATED +en Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta HP:0004383 IAO:0000115 nl Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta NOT_TRANSLATED +en Underdevelopment of the lesser trochanter HP:0008801 IAO:0000115 nl Underdevelopment of the lesser trochanter NOT_TRANSLATED +en Underdevelopment of the lower eyelid HP:0007697 IAO:0000115 nl Underdevelopment of the lower eyelid NOT_TRANSLATED +en Underdevelopment of the lymph nodes HP:0002732 IAO:0000115 nl Underdevelopment of the lymph nodes NOT_TRANSLATED +en Underdevelopment of the macula lutea HP:0001104 IAO:0000115 nl Underdevelopment of the macula lutea NOT_TRANSLATED +en Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation HP:0000272 IAO:0000115 nl Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation NOT_TRANSLATED +en Underdevelopment of the middle portion of the clavicle HP:0006608 IAO:0000115 nl Underdevelopment of the middle portion of the clavicle NOT_TRANSLATED +en Underdevelopment of the muscuklature of the calf HP:0008962 IAO:0000115 nl Underdevelopment of the muscuklature of the calf NOT_TRANSLATED +en Underdevelopment of the musculature HP:0009004 IAO:0000115 nl Underdevelopment of the musculature NOT_TRANSLATED +en Underdevelopment of the musculature of the pelvis HP:0500026 IAO:0000115 nl Underdevelopment of the musculature of the pelvis NOT_TRANSLATED +en Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis HP:0030239 IAO:0000115 nl Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis NOT_TRANSLATED +en Underdevelopment of the nasal bone HP:0004646 IAO:0000115 nl Underdevelopment of the nasal bone NOT_TRANSLATED +en Underdevelopment of the nasal septum HP:0005104 IAO:0000115 nl Underdevelopment of the nasal septum NOT_TRANSLATED +en Underdevelopment of the nasopharyngeal adenoids HP:0040258 IAO:0000115 nl Underdevelopment of the nasopharyngeal adenoids NOT_TRANSLATED +en Underdevelopment of the neurohypophysis HP:0011757 IAO:0000115 nl Underdevelopment of the neurohypophysis NOT_TRANSLATED +en Underdevelopment of the nipple HP:0002557 IAO:0000115 nl Underdevelopment of the nipple NOT_TRANSLATED +en Underdevelopment of the olfactory bulb HP:0040326 IAO:0000115 nl Underdevelopment of the olfactory bulb NOT_TRANSLATED +en Underdevelopment of the operculum HP:0100954 IAO:0000115 nl Underdevelopment of the operculum NOT_TRANSLATED +en Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve HP:0007766 IAO:0000115 nl Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve NOT_TRANSLATED +en Underdevelopment of the optic nerve HP:0000609 IAO:0000115 nl Underdevelopment of the optic nerve NOT_TRANSLATED +en Underdevelopment of the optic nerve and absence of the septum pellucidum HP:0100842 IAO:0000115 nl Underdevelopment of the optic nerve and absence of the septum pellucidum NOT_TRANSLATED +en Underdevelopment of the paranasal sinuses HP:0006784 IAO:0000115 nl Underdevelopment of the paranasal sinuses NOT_TRANSLATED +en Underdevelopment of the patella HP:0003065 IAO:0000115 nl Underdevelopment of the patella NOT_TRANSLATED +en Underdevelopment of the pectoral muscle HP:0008998 IAO:0000115 nl Underdevelopment of the pectoral muscle NOT_TRANSLATED +en Underdevelopment of the pectoralis major HP:0008953 IAO:0000115 nl Underdevelopment of the pectoralis major NOT_TRANSLATED +en Underdevelopment of the pharynx HP:0009555 IAO:0000115 nl Underdevelopment of the pharynx NOT_TRANSLATED +en Underdevelopment of the philtrum HP:0005326 IAO:0000115 nl Underdevelopment of the philtrum NOT_TRANSLATED +en Underdevelopment of the pons HP:0012110 IAO:0000115 nl Underdevelopment of the pons NOT_TRANSLATED +en Underdevelopment of the proximal epiphysis of the femur HP:0003090 IAO:0000115 nl Underdevelopment of the proximal epiphysis of the femur NOT_TRANSLATED +en Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone HP:0003173 IAO:0000115 nl Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone NOT_TRANSLATED +en Underdevelopment of the pulmonary artery HP:0004971 IAO:0000115 nl Underdevelopment of the pulmonary artery NOT_TRANSLATED +en Underdevelopment of the radius HP:0002984 IAO:0000115 nl Underdevelopment of the radius NOT_TRANSLATED +en Underdevelopment of the right-sided structures of the heart HP:0010954 IAO:0000115 nl Underdevelopment of the right-sided structures of the heart NOT_TRANSLATED +en Underdevelopment of the scaphoid HP:0004247 IAO:0000115 nl Underdevelopment of the scaphoid NOT_TRANSLATED +en Underdevelopment of the semicircular canal HP:0011382 IAO:0000115 nl Underdevelopment of the semicircular canal NOT_TRANSLATED +en Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula HP:0009011 IAO:0000115 nl Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula NOT_TRANSLATED +en Underdevelopment of the small intestine HP:0004790 IAO:0000115 nl Underdevelopment of the small intestine NOT_TRANSLATED +en Underdevelopment of the spleen HP:0006270 IAO:0000115 nl Underdevelopment of the spleen NOT_TRANSLATED +en Underdevelopment of the stroma of iris HP:0007990 IAO:0000115 nl Underdevelopment of the stroma of iris NOT_TRANSLATED +en Underdevelopment of the sweat glands HP:0007387 IAO:0000115 nl Underdevelopment of the sweat glands NOT_TRANSLATED +en Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb HP:0001245 IAO:0000115 nl Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb NOT_TRANSLATED +en Underdevelopment of the thymus HP:0000778 IAO:0000115 nl Underdevelopment of the thymus NOT_TRANSLATED +en Underdevelopment of the toenail HP:0001800 IAO:0000115 nl Underdevelopment of the toenail NOT_TRANSLATED +en Underdevelopment of the trapezium HP:0004255 IAO:0000115 nl Underdevelopment of the trapezium NOT_TRANSLATED +en Underdevelopment of the trapezoid HP:0004258 IAO:0000115 nl Underdevelopment of the trapezoid NOT_TRANSLATED +en Underdevelopment of the ulna HP:0003022 IAO:0000115 nl Underdevelopment of the ulna NOT_TRANSLATED +en Underdevelopment of the ulna on both sides HP:0005648 IAO:0000115 nl Underdevelopment of the ulna on both sides NOT_TRANSLATED +en Underdevelopment of the ulna on only one side HP:0005036 IAO:0000115 nl Underdevelopment of the ulna on only one side NOT_TRANSLATED +en Underdevelopment of the umbilicus HP:0034453 IAO:0000115 nl Underdevelopment of the umbilicus NOT_TRANSLATED +en Underdevelopment of the ureter HP:0032464 IAO:0000115 nl Underdevelopment of the ureter NOT_TRANSLATED +en Underdevelopment of the urinary bladder HP:0005343 IAO:0000115 nl Underdevelopment of the urinary bladder NOT_TRANSLATED +en Underdevelopment of the uterus HP:0000013 IAO:0000115 nl Underdevelopment of the uterus NOT_TRANSLATED +en Underdevelopment of the ventral portion of the pons HP:0006850 IAO:0000115 nl Underdevelopment of the ventral portion of the pons NOT_TRANSLATED +en Underdevelopment of the vermis of cerebellum HP:0001320 IAO:0000115 nl Underdevelopment of the vermis of cerebellum NOT_TRANSLATED +en Underdevelopment of the vertebral artery HP:0030322 IAO:0000115 nl Underdevelopment of the vertebral artery NOT_TRANSLATED +en Underdevelopment of the vertebral artery on both sides HP:0030324 IAO:0000115 nl Underdevelopment of the vertebral artery on both sides NOT_TRANSLATED +en Underdevelopment of the vertebral artery on one side HP:0030323 IAO:0000115 nl Underdevelopment of the vertebral artery on one side NOT_TRANSLATED +en Underdevelopment of the vestibular nerve HP:0011394 IAO:0000115 nl Underdevelopment of the vestibular nerve NOT_TRANSLATED +en Underdevelopment of the vestibule of the inner ear HP:0011378 IAO:0000115 nl Underdevelopment of the vestibule of the inner ear NOT_TRANSLATED +en Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch HP:0010669 IAO:0000115 nl Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch NOT_TRANSLATED +en Underdevelopment or absence of the nose or parts thereof HP:0009924 IAO:0000115 nl Underdevelopment or absence of the nose or parts thereof NOT_TRANSLATED +en Underdevelopment or absence of the uvula HP:0010293 IAO:0000115 nl Underdevelopment or absence of the uvula NOT_TRANSLATED +en Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells HP:0004762 IAO:0000115 nl Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells NOT_TRANSLATED +en Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee HP:0006442 IAO:0000115 nl Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee NOT_TRANSLATED +en Underfolded helix HP:0008577 rdfs:label nl Ondergevouwen helix CANDIDATE +en Underfolded superior helices HP:0008583 rdfs:label nl Ondergevouwen superior helices CANDIDATE +en Undergrowth of the limbs that affects only one side HP:0100556 IAO:0000115 nl Undergrowth of the limbs that affects only one side NOT_TRANSLATED +en Undergrowth of the outer labia HP:0000059 IAO:0000115 nl Undergrowth of the outer labia NOT_TRANSLATED +en Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla HP:0025362 IAO:0000115 nl Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla NOT_TRANSLATED +en Undermodeled humerus HP:0003885 rdfs:label nl Undermodeled humerus NOT_TRANSLATED +en Undermodelled forearm bones HP:0003970 rdfs:label nl Undermodelled forearm bones NOT_TRANSLATED +en Undermodelled hand bones HP:0004292 rdfs:label nl Undermodelled hand bones NOT_TRANSLATED +en Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels HP:0031086 IAO:0000115 nl Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels NOT_TRANSLATED +en Undetectable dark-adapted electroretinogram HP:0030474 rdfs:label nl Undetectable dark-adapted electroretinogram NOT_TRANSLATED +en Undetectable electroretinogram HP:0000550 rdfs:label nl Ondetecteerbaar elektroretinogram CANDIDATE +en Undetectable light- and dark-adapted electroretinogram HP:0007688 rdfs:label nl Niet detecteerbaar licht- en donker-aangepast elektroretinogram CANDIDATE +en Undetectable light-adapted electroretinogram HP:0030465 rdfs:label nl Undetectable light-adapted electroretinogram NOT_TRANSLATED +en Undetectable pattern electroretinogram HP:0030844 rdfs:label nl Undetectable pattern electroretinogram NOT_TRANSLATED +en Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L) HP:0003460 IAO:0000115 nl Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L) NOT_TRANSLATED +en Undetectable visual evoked potentials HP:0007965 rdfs:label nl Ondetecteerbare visueel opgewerkte potentialen CANDIDATE +en Undulate clavicles HP:0010560 rdfs:label nl Undulate clavicles NOT_TRANSLATED +en Undulate ribs HP:0010561 rdfs:label nl Undulate ribs NOT_TRANSLATED +en Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand HP:0009848 IAO:0000115 nl Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand NOT_TRANSLATED +en Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger HP:0009551 IAO:0000115 nl Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of one or more of the phalanges of the foot HP:0010178 IAO:0000115 nl Uneven (irregular) increase in bone density of one or more of the phalanges of the foot NOT_TRANSLATED +en Uneven (irregular) increase in bone density of one or more of the phalanges of the hand HP:0009772 IAO:0000115 nl Uneven (irregular) increase in bone density of one or more of the phalanges of the hand NOT_TRANSLATED +en Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger HP:0009444 IAO:0000115 nl Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the distal phalanges of the hand HP:0009840 IAO:0000115 nl Uneven (irregular) increase in bone density of the distal phalanges of the hand NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger HP:0009304 IAO:0000115 nl Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the distal phalanx of the second finger HP:0009562 IAO:0000115 nl Uneven (irregular) increase in bone density of the distal phalanx of the second finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the distal phalanx of the third finger HP:0009425 IAO:0000115 nl Uneven (irregular) increase in bone density of the distal phalanx of the third finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger HP:0009307 IAO:0000115 nl Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the middle phalanx of the second finger HP:0009573 IAO:0000115 nl Uneven (irregular) increase in bone density of the middle phalanx of the second finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the middle phalanx of the third finger HP:0009434 IAO:0000115 nl Uneven (irregular) increase in bone density of the middle phalanx of the third finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger HP:0009313 IAO:0000115 nl Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the proximal phalanx of the second finger HP:0009585 IAO:0000115 nl Uneven (irregular) increase in bone density of the proximal phalanx of the second finger NOT_TRANSLATED +en Uneven (irregular) increase in bone density of the proximal phalanx of the third finger HP:0009454 IAO:0000115 nl Uneven (irregular) increase in bone density of the proximal phalanx of the third finger NOT_TRANSLATED +en Uneven increase in bone density of one or more of the phalanges of the 5th finger HP:0009377 IAO:0000115 nl Uneven increase in bone density of one or more of the phalanges of the 5th finger NOT_TRANSLATED +en Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger HP:0009406 IAO:0000115 nl Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger NOT_TRANSLATED +en Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0100468 IAO:0000115 nl Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0100463 IAO:0000115 nl Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0100462 IAO:0000115 nl Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Uneven increase in bone density of the proximal phalanges of the hand HP:0009856 IAO:0000115 nl Uneven increase in bone density of the proximal phalanges of the hand NOT_TRANSLATED +en Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0100466 IAO:0000115 nl Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays HP:0100465 IAO:0000115 nl Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays NOT_TRANSLATED +en Uneven increase in bone density within the 1st metacarpal HP:0010031 IAO:0000115 nl Uneven increase in bone density within the 1st metacarpal NOT_TRANSLATED +en Uneven radiographic opacity of the epiphysis of the 1st metacarpal HP:0010020 IAO:0000115 nl Uneven radiographic opacity of the epiphysis of the 1st metacarpal NOT_TRANSLATED +en Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb HP:0009680 IAO:0000115 nl Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb NOT_TRANSLATED +en Uneven radiographic opacity of the one or more epiphyses of the thumb HP:0009691 IAO:0000115 nl Uneven radiographic opacity of the one or more epiphyses of the thumb NOT_TRANSLATED +en Uneven rhythm of breathing HP:0012195 IAO:0000115 nl Uneven rhythm of breathing NOT_TRANSLATED +en Unexplained fevers HP:0001955 rdfs:label nl Koorts eci CANDIDATE +en Unfavorable response of muscle weakness to acetylcholine esterase inhibitors HP:0030203 rdfs:label nl Ongunstige respons van spierzwakte op acetylcholinesteraseremmers CANDIDATE +en Ungual fibroma HP:0100804 rdfs:label nl Unguaal fibroom CANDIDATE +en Unguarded tricuspid valve HP:0030719 rdfs:label nl Unguarded tricuspid valve NOT_TRANSLATED +en Unhappy demeanor HP:0031588 rdfs:label nl Ongelukkig gedrag CANDIDATE +en Uni- and bilateral multifocal epileptiform discharges HP:0011190 rdfs:label nl Uni- en bilaterale multifocale epileptiforme ontladingen CANDIDATE +en Unicameral bone cyst HP:0012064 rdfs:label nl Unicamerale botcyste CANDIDATE +en Unicornuate uterus HP:0031909 rdfs:label nl Unicornuate uterus NOT_TRANSLATED +en Unicoronal synostosis HP:0011315 rdfs:label nl Unicoronale synostose CANDIDATE +en Unicoronal synostosis affecting only the right coronal suture HP:0011317 IAO:0000115 nl Unicoronal synostosis affecting only the right coronal suture NOT_TRANSLATED +en Unicuspid aortic valve HP:0012561 rdfs:label nl Unicuspide aortaklep CANDIDATE +en Unifocal splenic abscess HP:0025061 rdfs:label nl Unifocale milt abcessen CANDIDATE +en Unilambdoid synostosis HP:0011320 rdfs:label nl Unilambdoid synostosis NOT_TRANSLATED +en Unilateral HP:0012833 rdfs:label nl Unilateraal CANDIDATE +en Unilateral absence of pectoralis major muscle HP:0005256 rdfs:label nl Unilaterale afwezigheid van de musculus pectoralis major CANDIDATE +en Unilateral alveolar cleft of maxilla HP:0410033 rdfs:label nl Unilaterale alveolaire schisis van maxilla CANDIDATE +en Unilateral atrophy (reduction in size) of a leg HP:0100557 IAO:0000115 nl Unilateral atrophy (reduction in size) of a leg NOT_TRANSLATED +en Unilateral atrophy (reduction in size) of an arm HP:0100558 IAO:0000115 nl Unilateral atrophy (reduction in size) of an arm NOT_TRANSLATED +en Unilateral atrophy of facial tissues, including muscles, bones and skin HP:0011331 IAO:0000115 nl Unilateral atrophy of facial tissues, including muscles, bones and skin NOT_TRANSLATED +en Unilateral brachydactyly HP:0006008 rdfs:label nl Unilaterale brachydactylie CANDIDATE +en Unilateral breast hypoplasia HP:0012813 rdfs:label nl Unilaterale borst hypoplasie CANDIDATE +en Unilateral chest hypoplasia HP:0005254 rdfs:label nl Unilaterale borst hypoplasie CANDIDATE +en Unilateral cleft lip HP:0100333 rdfs:label nl Unilaterale gespleten lip CANDIDATE +en Unilateral cleft palate HP:0100334 rdfs:label nl Unilaterale gespleten gehemelte CANDIDATE +en Unilateral conductive hearing impairment HP:0040119 rdfs:label nl Unilateraal conductief gehoorverlies CANDIDATE +en Unilateral cryptorchidism HP:0012741 rdfs:label nl Unilateraal cryptorchisme CANDIDATE +en Unilateral deafness HP:0009900 rdfs:label nl Unilaterale doofheid CANDIDATE +en Unilateral external ear deformity HP:0008605 rdfs:label nl Unilaterale vervorming van externe oor CANDIDATE +en Unilateral facial palsy HP:0012799 rdfs:label nl Unilaterale facialis parese CANDIDATE +en Unilateral hypoplasia of pectoralis major muscle HP:0011959 rdfs:label nl Unilaterale hypoplasie van de musculus pectoralis major CANDIDATE +en Unilateral lump kidney HP:0034232 rdfs:label nl Unilateral lump kidney NOT_TRANSLATED +en Unilateral lung agenesis HP:0030707 rdfs:label nl Unilaterale long agenesie CANDIDATE +en Unilateral microphthalmos HP:0011480 rdfs:label nl Unilaterale microftalmie CANDIDATE +en Unilateral multifocal epileptiform discharges HP:0011191 rdfs:label nl Unilaterale multifocale epileptiforme ontladingen CANDIDATE +en Unilateral narrow palpebral fissure HP:0007946 rdfs:label nl Unilaterale smalle ooglidspleet CANDIDATE +en Unilateral oligodactyly HP:0006230 rdfs:label nl Unilaterale oligodactylie CANDIDATE +en Unilateral overgrowth of facial tissues, including muscles, bones and skin HP:0005323 IAO:0000115 nl Unilateral overgrowth of facial tissues, including muscles, bones and skin NOT_TRANSLATED +en Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes HP:0011099 IAO:0000115 nl Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes NOT_TRANSLATED +en Unilateral perisylvian polymicrogyria HP:0032406 rdfs:label nl Unilateral perisylvian polymicrogyria NOT_TRANSLATED +en Unilateral polymicrogyria HP:0006927 rdfs:label nl Unilaterale polymicrogyrie CANDIDATE +en Unilateral primary pulmonary dysgenesis HP:0006549 rdfs:label nl Unilaterale primaire pulmonale dysgenesie CANDIDATE +en Unilateral ptosis HP:0007687 rdfs:label nl Unilaterale ptosis CANDIDATE +en Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing HP:0025186 IAO:0000115 nl Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing NOT_TRANSLATED +en Unilateral radial aplasia HP:0011908 rdfs:label nl Unilaterale radius aplasie CANDIDATE +en Unilateral renal agenesis HP:0000122 rdfs:label nl Unilaterale renale agenesie CANDIDATE +en Unilateral renal atrophy HP:0008717 rdfs:label nl Unilaterale renale atrofie CANDIDATE +en Unilateral renal dysplasia HP:0008718 rdfs:label nl Unilaterale renale dysplasie CANDIDATE +en Unilateral renal hypoplasia HP:0012583 rdfs:label nl Unilaterale renale hypoplasie CANDIDATE +en Unilateral ulnar hypoplasia HP:0005036 rdfs:label nl Unilaterale ulnaire hypoplasie CANDIDATE +en Unilateral underdevelopment of the facial tissues, including muscles and bones HP:0011332 IAO:0000115 nl Unilateral underdevelopment of the facial tissues, including muscles and bones NOT_TRANSLATED +en Unilateral vertebral artery hypoplasia HP:0030323 rdfs:label nl Unilaterale arteria vertebralis hypoplasie CANDIDATE +en Unilateral vestibular schwannoma HP:0009590 rdfs:label nl Unilateraal vestibulair schwannoom CANDIDATE +en Unilateral vocal cord paralysis HP:0008757 rdfs:label nl Unilaterale stembandverlamming CANDIDATE +en Unilateral vocal cord paresis HP:0012821 rdfs:label nl Unilaterale stemband parese CANDIDATE +en Unilateral wrist flexion contracture HP:0012454 rdfs:label nl Unilaterale pols flexiecontractuur CANDIDATE +en Uninodular goiter HP:0011773 rdfs:label nl Uninodulair struma CANDIDATE +en Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context HP:0032936 IAO:0000115 nl Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context NOT_TRANSLATED +en Uniparental disomy HP:0032382 rdfs:label nl Uniparental disomy NOT_TRANSLATED +en Uniparental heterodisomy HP:0032383 rdfs:label nl Uniparental heterodisomy NOT_TRANSLATED +en Uniparental isodisomy HP:0032384 rdfs:label nl Uniparental isodisomy NOT_TRANSLATED +en Univentricular heart with absent left sided atrioventricular connection HP:0011549 rdfs:label nl Univentriculair hart met afwezige linkszijdige atrioventriculaire verbinding CANDIDATE +en Unlayered lissencephaly HP:0032456 rdfs:label nl Unlayered lissencephaly NOT_TRANSLATED +en Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size HP:0002283 IAO:0000115 nl Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size NOT_TRANSLATED +en Unossified sacrum HP:0030290 rdfs:label nl Niet-geossificeerd sacrum CANDIDATE +en Unossified vertebral bodies HP:0004606 rdfs:label nl Niet-geossificeerde wervellichamen CANDIDATE +en Unprovoked explosive pathological sneezing HP:0025096 IAO:0000115 nl Unprovoked explosive pathological sneezing NOT_TRANSLATED +en Unroofed coronary sinus HP:0031297 rdfs:label nl Unroofed coronary sinus NOT_TRANSLATED +en Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion HP:0031297 IAO:0000115 nl Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion NOT_TRANSLATED +en Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances HP:0000712 IAO:0000115 nl Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances NOT_TRANSLATED +en Unsteady gait HP:0002317 rdfs:label nl Onvaste gang CANDIDATE +en Unusual CNS infection HP:0011450 rdfs:label nl CNZ infectie CANDIDATE +en Unusual dermatoglyphics HP:0007560 rdfs:label nl Ongebruikelijke dermatoglyfen CANDIDATE +en Unusual fungal infection HP:0020100 rdfs:label nl Unusual fungal infection NOT_TRANSLATED +en Unusual gastrointestinal infection HP:0032166 rdfs:label nl Unusual gastrointestinal infection NOT_TRANSLATED +en Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation HP:0008723 IAO:0000115 nl Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation NOT_TRANSLATED +en Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation HP:0008668 IAO:0000115 nl Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation NOT_TRANSLATED +en Unusual helminthic infection HP:0020107 rdfs:label nl Unusual helminthic infection NOT_TRANSLATED +en Unusual infection HP:0032101 rdfs:label nl Unusual infection NOT_TRANSLATED +en Unusual infection by anatomical site HP:0032158 rdfs:label nl Unusual infection by anatomical site NOT_TRANSLATED +en Unusual interest in sensory aspects of the environment HP:4000079 IAO:0000115 nl Unusual interest in sensory aspects of the environment NOT_TRANSLATED +en Unusual parasitic infection HP:0020108 rdfs:label nl Unusual parasitic infection NOT_TRANSLATED +en Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate HP:0002708 IAO:0000115 nl Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate NOT_TRANSLATED +en Unusual protozoan infection HP:0020104 rdfs:label nl Unusual protozoan infection NOT_TRANSLATED +en Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities HP:0100301 IAO:0000115 nl Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities NOT_TRANSLATED +en Unusual skin infection HP:0032162 rdfs:label nl Unusual skin infection NOT_TRANSLATED +en Unusual viral infection HP:0034317 rdfs:label nl Unusual viral infection NOT_TRANSLATED +en Unusual virus reactivation HP:0034318 rdfs:label nl Unusual virus reactivation NOT_TRANSLATED +en Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation HP:0033141 IAO:0000115 nl Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation NOT_TRANSLATED +en Upbeat nystagmus HP:0011477 rdfs:label nl Upbeat nystagmus NOT_TRANSLATED +en Upgaze palsy HP:0025331 rdfs:label nl Upgaze palsy NOT_TRANSLATED +en Uplifted earlobe HP:0009909 rdfs:label nl Verheven oorlel CANDIDATE +en Upper airway obstruction HP:0002781 rdfs:label nl Bovenste luchtweg obstructie CANDIDATE +en Upper extremity akinesia HP:0033412 rdfs:label nl Upper extremity akinesia NOT_TRANSLATED +en Upper extremity hypokinesia HP:0033413 rdfs:label nl Upper extremity hypokinesia NOT_TRANSLATED +en Upper extremity joint dislocation HP:0030310 rdfs:label nl Bovenste extremiteit gewrichts dislocatie CANDIDATE +en Upper eyelid coloboma HP:0000636 rdfs:label nl Bovenste ooglid coloboom CANDIDATE +en Upper eyelid edema HP:0012724 rdfs:label nl Bovenste ooglid oedeem CANDIDATE +en Upper eyelid entropion HP:0025607 rdfs:label nl Bovenste ooglid entropion CANDIDATE +en Upper eyelid laxity HP:0032034 rdfs:label nl Upper eyelid laxity NOT_TRANSLATED +en Upper eyelid partly covered by skin when eyes are open HP:0030822 IAO:0000115 nl Upper eyelid partly covered by skin when eyes are open NOT_TRANSLATED +en Upper eyelid retraction HP:0500044 rdfs:label nl Upper eyelid retraction NOT_TRANSLATED +en Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear HP:0000369 IAO:0000115 nl Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear NOT_TRANSLATED +en Upper limb amyotrophy HP:0009129 rdfs:label nl Amyotrofie van bovenste extremiteit CANDIDATE +en Upper limb asymmetry HP:0100560 rdfs:label nl Asymmetrie van de bovenste ledematen CANDIDATE +en Upper limb dysmetria HP:0020036 rdfs:label nl Bovenste ledematen dysmetrie CANDIDATE +en Upper limb hypertonia HP:0200049 rdfs:label nl Hypertonie van de bovenste extremiteit CANDIDATE +en Upper limb metaphyseal widening HP:0003856 rdfs:label nl Metafysaire verbreding in bovenste ledematen CANDIDATE +en Upper limb muscle hypertrophy HP:0040265 rdfs:label nl Bovenste extremiteit spier hypertrofie CANDIDATE +en Upper limb muscle hypoplasia HP:0009016 rdfs:label nl Hypoplasie van spier van de bovenste extremiteit CANDIDATE +en Upper limb muscle weakness HP:0003484 rdfs:label nl Spierzwakte van de bovenste extremiteit CANDIDATE +en Upper limb pain HP:0012513 rdfs:label nl Pijn in bovenste extremiteit CANDIDATE +en Upper limb peromelia HP:0009814 rdfs:label nl Bovenste ledematen peromelie CANDIDATE +en Upper limb phocomelia HP:0009813 rdfs:label nl Bovenste ledematen focomelie CANDIDATE +en Upper limb postural tremor HP:0007351 rdfs:label nl Posturale tremor van bovenste ledemaat CANDIDATE +en Upper limb spasticity HP:0006986 rdfs:label nl Spasticiteit van de bovenste ledematen CANDIDATE +en Upper limb undergrowth HP:0009824 rdfs:label nl Bovenste ledemaat ondergroei CANDIDATE +en Upper lip pit HP:0100268 rdfs:label nl Bovenste lip pit CANDIDATE +en Upper motor neuron dysfunction HP:0002493 rdfs:label nl Bovenste motor neuron dysfunctie CANDIDATE +en Upper-body predominance HP:0025290 rdfs:label nl Overheersing van het bovenlichaam CANDIDATE +en Upper-limb joint contracture HP:0100360 rdfs:label nl Contracturen van de gewrichten van de bovenste ledematen CANDIDATE +en Upper-limb metaphyseal irregularity HP:0003850 rdfs:label nl Metafysaire irregulariteit van bovenste ledematen CANDIDATE +en Upslanted palpebral fissure HP:0000582 rdfs:label nl Schuin naar boven lopende oogspleet CANDIDATE +en Upslanting toenail HP:0032344 rdfs:label nl Upslanting toenail NOT_TRANSLATED +en Upturned concavity of toenails HP:0032344 IAO:0000115 nl Upturned concavity of toenails NOT_TRANSLATED +en Upturned corners of mouth HP:0010805 rdfs:label nl Upturned mondhoeken CANDIDATE +en Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract HP:0003487 IAO:0000115 nl Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract NOT_TRANSLATED +en Upward and/or sideward growth of anterior hair HP:0002236 IAO:0000115 nl Upward and/or sideward growth of anterior hair NOT_TRANSLATED +en Urachal cyst HP:0012618 rdfs:label nl Urachale cyste CANDIDATE +en Urachus fistula HP:0100525 rdfs:label nl Urachus fistel CANDIDATE +en Uraciluria HP:0012127 rdfs:label nl Uracilurie CANDIDATE +en Urate tophus HP:0033073 rdfs:label nl Urate tophus NOT_TRANSLATED +en Ureter duplex HP:0012572 rdfs:label nl Ureter duplex NOT_TRANSLATED +en Ureter fissus HP:0012571 rdfs:label nl Ureter fissus NOT_TRANSLATED +en Ureteral agenesis HP:0012300 rdfs:label nl Ureterale agenesie CANDIDATE +en Ureteral atresia HP:0005999 rdfs:label nl Urethrale atresie CANDIDATE +en Ureteral duplication HP:0000073 rdfs:label nl Ureterale duplicatie CANDIDATE +en Ureteral dysgenesis HP:0008631 rdfs:label nl Ureterale dysgenesie CANDIDATE +en Ureteral hypoplasia HP:0032464 rdfs:label nl Ureteral hypoplasia NOT_TRANSLATED +en Ureteral obstruction HP:0006000 rdfs:label nl Obstructie van ureter CANDIDATE +en Ureteral polyp HP:0025635 rdfs:label nl Ureteral polyp NOT_TRANSLATED +en Ureteral stenosis HP:0000071 rdfs:label nl Ureterale stenose CANDIDATE +en Ureteral triplication HP:0008705 rdfs:label nl Ureterale triplicatie CANDIDATE +en Ureterocele HP:0000070 rdfs:label nl Ureterocèle CANDIDATE +en Ureteropelvic junction obstruction HP:0000074 rdfs:label nl Ureteropelviene junctie obstructie CANDIDATE +en Ureterovesical junction obstruction HP:0030735 rdfs:label nl Ureterovesical junction obstruction NOT_TRANSLATED +en Ureterovesical stenosis HP:0008714 rdfs:label nl Ureterovesicale stenose CANDIDATE +en Urethra more open or expanded than normal HP:0025417 IAO:0000115 nl Urethra more open or expanded than normal NOT_TRANSLATED +en Urethral atresia HP:0000068 rdfs:label nl Urethrale atresie CANDIDATE +en Urethral atresia, female HP:0000067 rdfs:label nl Urethrale atresie, vrouwelijke CANDIDATE +en Urethral atresia, male HP:0000052 rdfs:label nl Urethrale atresie, mannelijke CANDIDATE +en Urethral diverticulum HP:0008722 rdfs:label nl Urethra divertikel CANDIDATE +en Urethral fistula HP:0010480 rdfs:label nl Urethrale fistel CANDIDATE +en Urethral obstruction HP:0000796 rdfs:label nl Urethrale obstakel CANDIDATE +en Urethral sphincter sclerosis HP:0008664 rdfs:label nl Urethrale sfincter sclerose CANDIDATE +en Urethral stenosis HP:0008661 rdfs:label nl Urethrale stenose CANDIDATE +en Urethral stricture HP:0012227 rdfs:label nl Urethral stricture NOT_TRANSLATED +en Urethral valve HP:0010481 rdfs:label nl Urethrale klep CANDIDATE +en Urethritis HP:0500006 rdfs:label nl Urethritis CANDIDATE +en Urethrocele HP:0100821 rdfs:label nl Urethrocele CANDIDATE +en Urethrovaginal fistula HP:0008716 rdfs:label nl Urethrovaginale fistel CANDIDATE +en Urethrovesical occlusion HP:0034378 rdfs:label nl Urethrovesical occlusion NOT_TRANSLATED +en Urge incontinence is the strong, sudden need to urinate HP:0000012 IAO:0000115 nl Urge incontinence is the strong, sudden need to urinate NOT_TRANSLATED +en Uric acid crystalluria HP:0032964 rdfs:label nl Uric acid crystalluria NOT_TRANSLATED +en Uric acid nephrolithiasis HP:0000791 rdfs:label nl Urinezuur nefrolithiase CANDIDATE +en Uric acid urolithiasis independent of gout HP:0008651 rdfs:label nl Uric acid urolithiasis independent of gout NOT_TRANSLATED +en Urinary bladder inflammation HP:0100577 rdfs:label nl Blaasontsteking CANDIDATE +en Urinary bladder sphincter dysfunction HP:0002839 rdfs:label nl Urineblaas sfincter dysfunctie CANDIDATE +en Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast HP:0032623 IAO:0000115 nl Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast NOT_TRANSLATED +en Urinary excretion of sialylated oligosaccharides HP:0012061 rdfs:label nl Urine excretie van gesialyseerde oligosaccharides CANDIDATE +en Urinary glycosaminoglycan excretion HP:0003541 rdfs:label nl Urine glycosaminoglycaan excretie CANDIDATE +en Urinary hesitancy HP:0000019 rdfs:label nl Urinaire aarzeling CANDIDATE +en Urinary incontinence HP:0000020 rdfs:label nl Urine-incontinentie CANDIDATE +en Urinary mulberry cells HP:0032568 rdfs:label nl Urinary mulberry cells NOT_TRANSLATED +en Urinary oval fat bodies HP:0032958 rdfs:label nl Urinary oval fat bodies NOT_TRANSLATED +en Urinary retention HP:0000016 rdfs:label nl Urineretentie CANDIDATE +en Urinary space collagenization HP:0033313 rdfs:label nl Urinary space collagenization NOT_TRANSLATED +en Urinary tract atresia HP:0000809 rdfs:label nl Atresie van de urinewegen CANDIDATE +en Urinary tract neoplasm HP:0010786 rdfs:label nl Urineweg neoplasma CANDIDATE +en Urinary urgency HP:0000012 rdfs:label nl Urinaire urgentie CANDIDATE +en Urine has an increased amount of frothy fine bubbles HP:0031504 IAO:0000115 nl Urine has an increased amount of frothy fine bubbles NOT_TRANSLATED +en Urine pH of 8 or higher HP:0032944 IAO:0000115 nl Urine pH of 8 or higher NOT_TRANSLATED +en Urine valine level above the normal range HP:0033088 IAO:0000115 nl Urine valine level above the normal range NOT_TRANSLATED +en Urine xenobiotic HP:0031840 rdfs:label nl Urine xenobiotic NOT_TRANSLATED +en Urocanic aciduria HP:0012237 rdfs:label nl Urocaanzuuracidurie CANDIDATE +en Urogenital fistula HP:0100589 rdfs:label nl Urogenitale fistel CANDIDATE +en Urogenital sinus anomaly HP:0100779 rdfs:label nl Urogenitale sinus afwijking CANDIDATE +en Urolithiasis HP:0034368 rdfs:label nl Urolithiasis NOT_TRANSLATED +en Urticaria HP:0001025 rdfs:label nl Urticaria (galbulten, netelroos) CANDIDATE +en Urticaria caused by physical agents, such as heat, cold, light, friction HP:0410134 IAO:0000115 nl Urticaria caused by physical agents, such as heat, cold, light, friction NOT_TRANSLATED +en Urticaria characterized by spontaneously recurring hives for 6 weeks or longer HP:0410133 IAO:0000115 nl Urticaria characterized by spontaneously recurring hives for 6 weeks or longer NOT_TRANSLATED +en Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum HP:0410138 IAO:0000115 nl Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum NOT_TRANSLATED +en Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light HP:0410137 IAO:0000115 nl Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light NOT_TRANSLATED +en Urticaria may be caused by cold temperatures HP:0410135 IAO:0000115 nl Urticaria may be caused by cold temperatures NOT_TRANSLATED +en Urticarial plaque HP:0030351 rdfs:label nl Urticariële plaque CANDIDATE +en Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex HP:0034344 IAO:0000115 nl Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex NOT_TRANSLATED +en Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex HP:0001475 IAO:0000115 nl Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex NOT_TRANSLATED +en Usual interstitial pneumonia HP:0031950 rdfs:label nl Usual interstitial pneumonia NOT_TRANSLATED +en Usual-type tubular atrophy HP:0032952 rdfs:label nl Usual-type tubular atrophy NOT_TRANSLATED +en Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases HP:0032976 IAO:0000115 nl Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases NOT_TRANSLATED +en Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases HP:0032977 IAO:0000115 nl Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases NOT_TRANSLATED +en Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced HP:0032987 IAO:0000115 nl Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced NOT_TRANSLATED +en Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria HP:0031014 IAO:0000115 nl Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria NOT_TRANSLATED +en Uterine arteriovenous malformation HP:0031347 rdfs:label nl Uteriene arterioveneuze malformatie CANDIDATE +en Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy HP:0033840 IAO:0000115 nl Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy NOT_TRANSLATED +en Uterine leiomyoma HP:0000131 rdfs:label nl Uteriene leiomyoma CANDIDATE +en Uterine leiomyosarcoma HP:0002891 rdfs:label nl Uterien leiomyosarcoom CANDIDATE +en Uterine neoplasm HP:0010784 rdfs:label nl Uterien neoplasma CANDIDATE +en Uterine prolapse HP:0000139 rdfs:label nl Baarmoederverzakking CANDIDATE +en Uterine rupture HP:0100718 rdfs:label nl Baarmoeder ruptuur CANDIDATE +en Uterine synechiae HP:0030712 rdfs:label nl Uteriene synechiae CANDIDATE +en Uterus didelphys HP:0003762 rdfs:label nl Uterus didelphys CANDIDATE +en Uveal ectropion HP:0025358 rdfs:label nl Uveaal ectropion CANDIDATE +en Uveal melanoma HP:0007716 rdfs:label nl Intraoculair melanoom CANDIDATE +en Uveitis HP:0000554 rdfs:label nl Uveïtis CANDIDATE +en Uvula separated into two parts most easily seen at the tip HP:0000193 IAO:0000115 nl Uvula separated into two parts most easily seen at the tip NOT_TRANSLATED +en V-shaped cut (notch) in the middle of the P wave HP:0031598 IAO:0000115 nl V-shaped cut (notch) in the middle of the P wave NOT_TRANSLATED +en V-sign HP:0025536 rdfs:label nl V-Sign CANDIDATE +en Vacuolated lymphocytes HP:0001922 rdfs:label nl Gevacuoliseerde lymfocyten CANDIDATE +en Vagal paraganglioma HP:0002886 rdfs:label nl Vagaal paraganglioom CANDIDATE +en Vaginal adenosis HP:0025485 rdfs:label nl Vaginale adenose CANDIDATE +en Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life HP:0025485 IAO:0000115 nl Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life NOT_TRANSLATED +en Vaginal atresia HP:0000148 rdfs:label nl Vaginale atresie CANDIDATE +en Vaginal birth after Caesarian HP:0030365 rdfs:label nl Vaginale geboorte na sectio caesarea CANDIDATE +en Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally HP:0030365 IAO:0000115 nl Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally NOT_TRANSLATED +en Vaginal bleeding during sex HP:0034266 rdfs:label nl Vaginal bleeding during sex NOT_TRANSLATED +en Vaginal clear cell adenocarcinoma HP:0031521 rdfs:label nl Vaginaal clear cel adenocarcinoom CANDIDATE +en Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own HP:0030369 IAO:0000115 nl Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own NOT_TRANSLATED +en Vaginal dryness HP:0031088 rdfs:label nl Vaginale droogheid CANDIDATE +en Vaginal fish odor HP:0410022 rdfs:label nl Vaginale visgeur CANDIDATE +en Vaginal fistula HP:0004320 rdfs:label nl Vaginale fistel CANDIDATE +en Vaginal hematocele HP:0100674 rdfs:label nl Vaginale hematocele CANDIDATE +en Vaginal hernia HP:0100672 rdfs:label nl Vaginale hernia CANDIDATE +en Vaginal hydrocele HP:0100673 rdfs:label nl Vaginale hydrocele CANDIDATE +en Vaginal lymphocele HP:0100676 rdfs:label nl Vaginale lymfocele CANDIDATE +en Vaginal mucosal ulceration HP:0032565 rdfs:label nl Vaginal mucosal ulceration NOT_TRANSLATED +en Vaginal neoplasm HP:0100650 rdfs:label nl Vaginaal neoplasma CANDIDATE +en Vaginal pruritus HP:0030161 rdfs:label nl Vaginale pruritis CANDIDATE +en Vaginal pyocele HP:0100675 rdfs:label nl Vaginale pyocele CANDIDATE +en Vaginal stricture HP:0025416 rdfs:label nl Vaginale strictuur CANDIDATE +en Vaginismus HP:0030017 rdfs:label nl Vaginisme CANDIDATE +en Vaginitis HP:0030683 rdfs:label nl Vaginitis CANDIDATE +en Valgus hand deformity HP:0006228 rdfs:label nl Valgus hand deformiteit CANDIDATE +en Valinuria HP:0033088 rdfs:label nl Valinuria NOT_TRANSLATED +en Valproate exposure HP:4000117 rdfs:label nl Valproate exposure NOT_TRANSLATED +en Valvular pulmonary stenosis HP:0034350 rdfs:label nl Valvular pulmonary stenosis NOT_TRANSLATED +en Vanishing testis HP:0012870 rdfs:label nl Vanishing testis CANDIDATE +en Variable expressivity HP:0003828 rdfs:label nl Variabele expressie CANDIDATE +en Variable progression rate HP:0003682 rdfs:label nl Variabele mate van progressie CANDIDATE +en Variably shaped, cartilage-containing tissue anterior to the external auditory meatus HP:0030024 IAO:0000115 nl Variably shaped, cartilage-containing tissue anterior to the external auditory meatus NOT_TRANSLATED +en Varicocele HP:0012871 rdfs:label nl Varicocele CANDIDATE +en Varicose veins HP:0002619 rdfs:label nl Spataderen CANDIDATE +en Varicosity of veins in the vulval region HP:0100677 IAO:0000115 nl Varicosity of veins in the vulval region NOT_TRANSLATED +en Varus deformity of humeral neck HP:0006362 rdfs:label nl Varus deformiteit van nek van humerus CANDIDATE +en Varying irregularly over time in severity, amount, or amplitude HP:0031914 IAO:0000115 nl Varying irregularly over time in severity, amount, or amplitude NOT_TRANSLATED +en Vasa previa HP:0033991 rdfs:label nl Vasa previa NOT_TRANSLATED +en Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally HP:0033991 IAO:0000115 nl Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally NOT_TRANSLATED +en Vascular calcification HP:0004934 rdfs:label nl Vasculaire calcificatie CANDIDATE +en Vascular dilatation HP:0002617 rdfs:label nl Dilatatie CANDIDATE +en Vascular granular osmiophilic material deposition HP:0034379 rdfs:label nl Vascular granular osmiophilic material deposition NOT_TRANSLATED +en Vascular hamartoma HP:0032579 rdfs:label nl Vascular hamartoma NOT_TRANSLATED +en Vascular malformation of the lip HP:0031486 rdfs:label nl Vasculaire malformatie van de lip CANDIDATE +en Vascular neoplasm HP:0100742 rdfs:label nl Vasculair neoplasma CANDIDATE +en Vascular remnant arising from the disc HP:0009922 rdfs:label nl Vascular remnant arising from the disc NOT_TRANSLATED +en Vascular ring HP:0010775 rdfs:label nl Vasculaire ring CANDIDATE +en Vascular skin abnormality HP:0011276 rdfs:label nl Vasculaire huid afwijking CANDIDATE +en Vascular tortuosity HP:0004948 rdfs:label nl Vasculaire kronkelingheid CANDIDATE +en Vasculitis HP:0002633 rdfs:label nl Vasculitis CANDIDATE +en Vasculitis in the skin HP:0200029 rdfs:label nl Vasculitis in de huid CANDIDATE +en Vasospasm HP:0025637 rdfs:label nl Vasospasm NOT_TRANSLATED +en Vasovagal syncope HP:0012668 rdfs:label nl Vasovagale syncope CANDIDATE +en Vegetative state HP:0031358 rdfs:label nl Vegetatieve staat CANDIDATE +en Vein of Galen aneurysmal malformation HP:0030713 rdfs:label nl Vein of Galen aneurysmal malformation NOT_TRANSLATED +en Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen HP:0030713 IAO:0000115 nl Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen NOT_TRANSLATED +en Velamentous cord insertion HP:0030659 rdfs:label nl Velamenteuze navelstreng insertie CANDIDATE +en Velopharyngeal insufficiency HP:0000220 rdfs:label nl Velofaryngeale insufficiëntie CANDIDATE +en Venom allergy HP:0410336 rdfs:label nl Venom allergy NOT_TRANSLATED +en Venom-induced anaphylaxis HP:0500096 rdfs:label nl Venom-induced anaphylaxis NOT_TRANSLATED +en Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation HP:0033426 IAO:0000115 nl Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation NOT_TRANSLATED +en Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye HP:0500062 IAO:0000115 nl Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye NOT_TRANSLATED +en Venous insufficiency HP:0005293 rdfs:label nl Veneuze insufficiëntie CANDIDATE +en Venous malformation HP:0012721 rdfs:label nl Veneuze malformatie CANDIDATE +en Venous malformation of the lip HP:0031489 rdfs:label nl Veneuze malformatie van de lip CANDIDATE +en Venous occlusion HP:0025322 rdfs:label nl Veneuze occlusie CANDIDATE +en Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis) HP:0001977 IAO:0000115 nl Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis) NOT_TRANSLATED +en Venous stenosis HP:0025491 rdfs:label nl Veneuze stenose CANDIDATE +en Venous thrombosis HP:0004936 rdfs:label nl Veneuze trombose CANDIDATE +en Venous varicosities of celiac and mesenteric vessels HP:0002626 rdfs:label nl Veneuze varicositeiten van truncus coeliacus en mesenterische vaten CANDIDATE +en Ventilator dependence with inability to wean HP:0005946 rdfs:label nl Ventilatie afhankelijkheid zonder mogelijkheid tot weanen CANDIDATE +en Ventouse delivery HP:0011412 rdfs:label nl Vacuümextractie CANDIDATE +en Ventral hernia HP:0002933 rdfs:label nl Ventrale hernia CANDIDATE +en Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall HP:0002933 IAO:0000115 nl Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall NOT_TRANSLATED +en Ventral shortening of foreskin HP:0012435 rdfs:label nl Ventrale verkorting van voorhuid CANDIDATE +en Ventral skinfold extending from penis to scrotum HP:0030264 IAO:0000115 nl Ventral skinfold extending from penis to scrotum NOT_TRANSLATED +en Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees HP:0000041 IAO:0000115 nl Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees NOT_TRANSLATED +en Ventricular arrhythmia HP:0004308 rdfs:label nl Ventriculaire aritmie CANDIDATE +en Ventricular bigeminy HP:0034306 rdfs:label nl Ventricular bigeminy NOT_TRANSLATED +en Ventricular couplet HP:0034039 rdfs:label nl Ventricular couplet NOT_TRANSLATED +en Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy HP:0034041 IAO:0000115 nl Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy NOT_TRANSLATED +en Ventricular ectopy HP:0034041 rdfs:label nl Ventricular ectopy NOT_TRANSLATED +en Ventricular escape rhythm HP:0005155 rdfs:label nl Ventriculair escape-ritme CANDIDATE +en Ventricular fibrillation HP:0001663 rdfs:label nl Ventriculaire fibrillatie CANDIDATE +en Ventricular flutter HP:0011841 rdfs:label nl Ventriculaire flutter CANDIDATE +en Ventricular hypertrophy HP:0001714 rdfs:label nl Ventrikelhypertrofie CANDIDATE +en Ventricular preexcitation HP:0004309 rdfs:label nl Ventriculaire pre-excitatie CANDIDATE +en Ventricular preexcitation with multiple accessory pathways HP:0006684 rdfs:label nl Ventriculaire pre-excitatie met multipele toegangswegen CANDIDATE +en Ventricular septal aneurysm HP:0030957 rdfs:label nl Ventriculaire septum aneurysma CANDIDATE +en Ventricular septal defect HP:0001629 rdfs:label nl Ventrikelseptumdefect (VSD) CANDIDATE +en Ventricular septal hypertrophy HP:0005144 rdfs:label nl Linker ventrikel septum hypertrofie CANDIDATE +en Ventricular tachycardia HP:0004756 rdfs:label nl Ventriculaire tachycardie CANDIDATE +en Ventriculomegaly HP:0002119 rdfs:label nl Ventriculomegalie CANDIDATE +en Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth HP:0025724 IAO:0000115 nl Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth NOT_TRANSLATED +en Verruca plana HP:0550004 rdfs:label nl Verruca plana CANDIDATE +en Verrucae HP:0200043 rdfs:label nl Verrucae CANDIDATE +en Verruciform xanthoma HP:0031517 rdfs:label nl Verruciform xanthoom CANDIDATE +en Verrucous cell carcinoma of the tongue HP:0030414 rdfs:label nl Verruceus carcinoom van de tong CANDIDATE +en Verrucous epidermal nevus HP:0034275 rdfs:label nl Verrucous epidermal nevus NOT_TRANSLATED +en Verrucous papule HP:0012500 rdfs:label nl Verruceuze papel CANDIDATE +en Vertebral arch anomaly HP:0008438 rdfs:label nl Vertebrale boog anomalie CANDIDATE +en Vertebral artery aneurysm HP:0034179 rdfs:label nl Vertebral artery aneurysm NOT_TRANSLATED +en Vertebral artery calcification HP:0031308 rdfs:label nl Arteria vertebralis calcificatie CANDIDATE +en Vertebral artery hypoplasia HP:0030322 rdfs:label nl Arteria vertebralis hypoplasie CANDIDATE +en Vertebral artery tortuosity HP:0033981 rdfs:label nl Vertebral artery tortuosity NOT_TRANSLATED +en Vertebral clefting HP:0008428 rdfs:label nl Vertebrale schisis CANDIDATE +en Vertebral compression fracture HP:0002953 rdfs:label nl Vertebrale compressie fracturen CANDIDATE +en Vertebral fusion HP:0002948 rdfs:label nl Vertebrale fusie CANDIDATE +en Vertebral hyperostosis HP:0008442 rdfs:label nl Vertebrale hyperostose CANDIDATE +en Vertebral hypoplasia HP:0008417 rdfs:label nl Vertebrale hypoplasie CANDIDATE +en Vertebral segmentation defect HP:0003422 rdfs:label nl Vertebraal segmentatie defect CANDIDATE +en Vertebral wedging HP:0008422 rdfs:label nl Vertebral wedging NOT_TRANSLATED +en Vertebrobasilar dolichoectasia HP:0020038 rdfs:label nl Vertebrobasilaire dolichoectasie CANDIDATE +en Vertical bony ridge positioned in the midline of the forehead HP:0005487 IAO:0000115 nl Vertical bony ridge positioned in the midline of the forehead NOT_TRANSLATED +en Vertical clivus HP:0010559 rdfs:label nl Verticale clivus CANDIDATE +en Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest HP:0400001 IAO:0000115 nl Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest NOT_TRANSLATED +en Vertical eyelid laxity HP:0032033 rdfs:label nl Vertical eyelid laxity NOT_TRANSLATED +en Vertical forehead creases HP:0011221 rdfs:label nl Verticale voorhoofd plooien CANDIDATE +en Vertical incomitant strabismus HP:0020043 rdfs:label nl Verticaal incomitant strabismus CANDIDATE +en Vertical nystagmus HP:0010544 rdfs:label nl Verticale nystagmus CANDIDATE +en Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus HP:0010544 IAO:0000115 nl Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus NOT_TRANSLATED +en Vertical orbital dystopia HP:0030867 rdfs:label nl Verticale orbitale dystopie CANDIDATE +en Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest HP:0011221 IAO:0000115 nl Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest NOT_TRANSLATED +en Vertical supranuclear gaze palsy HP:0000511 rdfs:label nl Verticale supranucleaire parese CANDIDATE +en Vertigo HP:0002321 rdfs:label nl Vertigo CANDIDATE +en Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements HP:0001336 IAO:0000115 nl Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements NOT_TRANSLATED +en Very frequent HP:0040281 rdfs:label nl Zeer frequent CANDIDATE +en Very long chain fatty acid accumulation HP:0008167 rdfs:label nl Zeer lange keten vetzuur accumulatie CANDIDATE +en Very low visual acuity HP:0032122 rdfs:label nl Very low visual acuity NOT_TRANSLATED +en Very preterm birth HP:0025666 rdfs:label nl Very preterm birth NOT_TRANSLATED +en Very rapid breathing HP:0002789 IAO:0000115 nl Very rapid breathing NOT_TRANSLATED +en Very rare HP:0040284 rdfs:label nl Zeer zeldzaam CANDIDATE +en Very severe constriction of peripheral visual field HP:0030527 rdfs:label nl Perifere gezichtsveld beperking met 10 graden centraal gespaard CANDIDATE +en Vesicoallantoic abdominal wall defect HP:0030733 rdfs:label nl Vesicoallantoic abdominal wall defect NOT_TRANSLATED +en Vesicoureteral reflux HP:0000076 rdfs:label nl Vesicoureterale reflux CANDIDATE +en Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction HP:0033738 IAO:0000115 nl Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction NOT_TRANSLATED +en Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction HP:0033739 IAO:0000115 nl Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction NOT_TRANSLATED +en Vesicoureteral reflux into a non-dilated pyelocalyceal system HP:0033736 IAO:0000115 nl Vesicoureteral reflux into a non-dilated pyelocalyceal system NOT_TRANSLATED +en Vesicoureteral reflux into the ureter only HP:0033735 IAO:0000115 nl Vesicoureteral reflux into the ureter only NOT_TRANSLATED +en Vesicoureteral reflux with dilatation of the collecting system HP:0033737 IAO:0000115 nl Vesicoureteral reflux with dilatation of the collecting system NOT_TRANSLATED +en Vesicoureteral reflux with dilation of the renal calyces (Grade III - V) HP:0033734 IAO:0000115 nl Vesicoureteral reflux with dilation of the renal calyces (Grade III - V) NOT_TRANSLATED +en Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter HP:0033740 IAO:0000115 nl Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter NOT_TRANSLATED +en Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter HP:0033741 IAO:0000115 nl Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter NOT_TRANSLATED +en Vesicoureteral reflux without dilation of the renal calyces (Grade I-II) HP:0033733 IAO:0000115 nl Vesicoureteral reflux without dilation of the renal calyces (Grade I-II) NOT_TRANSLATED +en Vesicovaginal fistula HP:0001586 rdfs:label nl Vesicovaginale fistel CANDIDATE +en Vesicular eruption HP:0033697 rdfs:label nl Vesicular eruption NOT_TRANSLATED +en Vestibular areflexia HP:0008568 rdfs:label nl Vestibulaire areflexie CANDIDATE +en Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography HP:0008568 IAO:0000115 nl Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography NOT_TRANSLATED +en Vestibular dysfunction HP:0001751 rdfs:label nl Vestibulaire dysfunctie CANDIDATE +en Vestibular hypofunction HP:0001756 rdfs:label nl Vestibulaire hypofunctie CANDIDATE +en Vestibular nystagmus HP:0010542 rdfs:label nl Vestibulaire nystagmus CANDIDATE +en Vestibular saccular degeneration HP:0031000 rdfs:label nl Vestibulaire sacculus degeneratie CANDIDATE +en Vestibular schwannoma HP:0009588 rdfs:label nl Vestibulair schwannoom CANDIDATE +en Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity HP:0030663 IAO:0000115 nl Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity NOT_TRANSLATED +en Vibratory urticaria HP:0410138 rdfs:label nl Vibratory urticaria NOT_TRANSLATED +en Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis HP:0033552 IAO:0000115 nl Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis NOT_TRANSLATED +en Villous atrophy HP:0011473 rdfs:label nl Villeuze atrofie CANDIDATE +en Villous hypertrophy of choroid plexus HP:0012422 rdfs:label nl Villeuze hypertrofie van de plexus choroideus CANDIDATE +en Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints HP:0025508 IAO:0000115 nl Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints NOT_TRANSLATED +en Violent behavior HP:0008760 rdfs:label nl Gewelddadig gedrag CANDIDATE +en Violet lip discoloration HP:0025119 rdfs:label nl Violet lip verkleuring CANDIDATE +en Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells HP:0032951 IAO:0000115 nl Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells NOT_TRANSLATED +en Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage HP:0032954 IAO:0000115 nl Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage NOT_TRANSLATED +en Viral encephalitis HP:0033993 rdfs:label nl Viral encephalitis NOT_TRANSLATED +en Viral hepatitis HP:0006562 rdfs:label nl Virale hepatitis CANDIDATE +en Viral infection-induced rhabdomyolysis HP:0003558 rdfs:label nl Door een virale infectie geïnduceerde rhabdomyolyse CANDIDATE +en Viremia HP:0020071 rdfs:label nl Viremia NOT_TRANSLATED +en Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum HP:0008072 IAO:0000115 nl Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum NOT_TRANSLATED +en Visceral angiomatosis HP:0100761 rdfs:label nl Viscerale angiomatose CANDIDATE +en Visceral epithelial cell capping HP:0033239 rdfs:label nl Visceral epithelial cell capping NOT_TRANSLATED +en Visceral epithelial cell detachment HP:0033237 rdfs:label nl Visceral epithelial cell detachment NOT_TRANSLATED +en Visceral epithelial cell hyperplasia HP:0033314 rdfs:label nl Visceral epithelial cell hyperplasia NOT_TRANSLATED +en Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact HP:0033266 IAO:0000115 nl Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact NOT_TRANSLATED +en Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy HP:0033296 IAO:0000115 nl Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy NOT_TRANSLATED +en Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy HP:0033297 IAO:0000115 nl Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy NOT_TRANSLATED +en Visceral epithelial hyaline droplets HP:0033315 rdfs:label nl Visceral epithelial hyaline droplets NOT_TRANSLATED +en Visceral hemangioma HP:0410266 rdfs:label nl Visceral hemangioma NOT_TRANSLATED +en Visceromegaly HP:0003271 rdfs:label nl Visceromegalie CANDIDATE +en Visible increase in width of the hallux without an increase in the dorso-ventral dimension HP:0010055 IAO:0000115 nl Visible increase in width of the hallux without an increase in the dorso-ventral dimension NOT_TRANSLATED +en Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension HP:0001837 IAO:0000115 nl Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension NOT_TRANSLATED +en Visible space between the dental arches in occlusion HP:0010807 IAO:0000115 nl Visible space between the dental arches in occlusion NOT_TRANSLATED +en Visual acuity light perception with projection HP:0030551 rdfs:label nl Visual acuity light perception with projection NOT_TRANSLATED +en Visual acuity light perception without projection HP:0030552 rdfs:label nl Visual acuity light perception without projection NOT_TRANSLATED +en Visual acuity no light perception HP:0030553 rdfs:label nl Visual acuity no light perception NOT_TRANSLATED +en Visual acuity test abnormality HP:0030532 rdfs:label nl Visustest afwijking CANDIDATE +en Visual agnosia HP:0030222 rdfs:label nl Visuele agnosie CANDIDATE +en Visual field defect HP:0001123 rdfs:label nl Gezichtsveld defect CANDIDATE +en Visual fixation instability HP:0025405 rdfs:label nl Visuele fixatie instabiliteit CANDIDATE +en Visual gaze preference HP:0025518 rdfs:label nl Visual gaze preference NOT_TRANSLATED +en Visual hallucinations HP:0002367 rdfs:label nl Visuele hallucinaties CANDIDATE +en Visual impairment HP:0000505 rdfs:label nl Slechtziendheid CANDIDATE +en Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery HP:0000505 IAO:0000115 nl Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery NOT_TRANSLATED +en Visual loss HP:0000572 rdfs:label nl Gezichtsverlies CANDIDATE +en Visual perceptions that are not elicited by a corresponding stimulus from the outside world HP:0002367 IAO:0000115 nl Visual perceptions that are not elicited by a corresponding stimulus from the outside world NOT_TRANSLATED +en Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip HP:0011803 IAO:0000115 nl Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip NOT_TRANSLATED +en Visually-induced seizure HP:0020216 rdfs:label nl Visually-induced seizure NOT_TRANSLATED +en Vitamin B12 deficiency HP:0100502 rdfs:label nl Vitamine B12 deficiëntie CANDIDATE +en Vitamin B3 deficiency HP:0100497 rdfs:label nl Vitamine B3 deficiëntie CANDIDATE +en Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade HP:0100831 IAO:0000115 nl Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade NOT_TRANSLATED +en Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula HP:0007677 IAO:0000115 nl Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula NOT_TRANSLATED +en Vitelliform-like macular lesions HP:0007677 rdfs:label nl Vitelliform-achtige macula laesies CANDIDATE +en Vitelliform-like retinal lesions HP:0030643 rdfs:label nl Vitelliform-achtige retinale laesies CANDIDATE +en Vitiligo HP:0001045 rdfs:label nl Vitiligo CANDIDATE +en Vitreomacular adhesion HP:0031150 rdfs:label nl Vitreomaculaire adhesie CANDIDATE +en Vitreomacular traction HP:0031151 rdfs:label nl Vitreomaculaire tractie CANDIDATE +en Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad HP:0031151 IAO:0000115 nl Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad NOT_TRANSLATED +en Vitreoretinopathy HP:0007773 rdfs:label nl Vitreoretinopathie CANDIDATE +en Vitreous floaters HP:0100832 rdfs:label nl Glasvocht floaters CANDIDATE +en Vitreous haze HP:0030652 rdfs:label nl Glasvocht waas CANDIDATE +en Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation HP:0030652 IAO:0000115 nl Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation NOT_TRANSLATED +en Vitreous hemorrhage HP:0007902 rdfs:label nl Glasvocht bloeding CANDIDATE +en Vitreous humor of the eye displaying beaded bundles of irregular diameters HP:0031154 IAO:0000115 nl Vitreous humor of the eye displaying beaded bundles of irregular diameters NOT_TRANSLATED +en Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane HP:0031153 IAO:0000115 nl Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane NOT_TRANSLATED +en Vitreous inflammatory cells HP:0030662 rdfs:label nl Glasvocht ontstekingscellen CANDIDATE +en Vitreous snowballs HP:0030661 rdfs:label nl Vitreous snowballs NOT_TRANSLATED +en Vitreous strands HP:0030832 rdfs:label nl Glasvocht strengen CANDIDATE +en Vitritis HP:0011531 rdfs:label nl Vitritis CANDIDATE +en Vivid hallucinations HP:0006803 rdfs:label nl Levendige hallucinaties CANDIDATE +en Vocal cord dysfunction HP:0031801 rdfs:label nl Vocal cord dysfunction NOT_TRANSLATED +en Vocal cord paralysis HP:0001605 rdfs:label nl Stembandverlamming CANDIDATE +en Vocal cord paresis HP:0001604 rdfs:label nl Stembandverlamming CANDIDATE +en Vocal cord polyp HP:0032041 rdfs:label nl Vocal cord polyp NOT_TRANSLATED +en Vocal tremor HP:0012477 rdfs:label nl Vocale tremor CANDIDATE +en Volar fingernail HP:0033976 rdfs:label nl Volar fingernail NOT_TRANSLATED +en Volvulus HP:0002580 rdfs:label nl Volvulus CANDIDATE +en Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit HP:0032144 IAO:0000115 nl Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit NOT_TRANSLATED +en Vomiting HP:0002013 rdfs:label nl Braken CANDIDATE +en Vomiting of material that is of fecal origin HP:0025089 IAO:0000115 nl Vomiting of material that is of fecal origin NOT_TRANSLATED +en Vomiting that ejects the gastric contents with great force HP:0002587 IAO:0000115 nl Vomiting that ejects the gastric contents with great force NOT_TRANSLATED +en Vomiting-induced mucosal laceration at the esophago-gastric junction HP:0032062 IAO:0000115 nl Vomiting-induced mucosal laceration at the esophago-gastric junction NOT_TRANSLATED +en Vulval varicose vein HP:0100677 rdfs:label nl Vulvale spatader CANDIDATE +en Vulvar abscess HP:0033587 rdfs:label nl Vulvar abscess NOT_TRANSLATED +en Vulvar adenocarcinoma HP:0030420 rdfs:label nl Vulva adenocarcinoom CANDIDATE +en Vulvar hemangioma HP:0410272 rdfs:label nl Vulvar hemangioma NOT_TRANSLATED +en Vulvar intraepithelial neoplasia HP:0032202 rdfs:label nl Vulvar intraepithelial neoplasia NOT_TRANSLATED +en Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC HP:0032202 IAO:0000115 nl Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC NOT_TRANSLATED +en Vulvar melanoma HP:0030418 rdfs:label nl Vulva melanoom CANDIDATE +en Vulvar neoplasm HP:0030416 rdfs:label nl Vulva neoplasma CANDIDATE +en Vulvodynia HP:0030943 rdfs:label nl Vulvodynie CANDIDATE +en Waddling gait HP:0002515 rdfs:label nl Wachellende gang CANDIDATE +en Wafer-thin platyspondyly HP:0008452 rdfs:label nl Flinterdunne platyspondylie CANDIDATE +en Waking up at night gasping for breath HP:0031503 IAO:0000115 nl Waking up at night gasping for breath NOT_TRANSLATED +en Warfarin-induced skin necrosis HP:0001038 rdfs:label nl Warfarine-geïnduceerde huidnecrose CANDIDATE +en Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C HP:0025440 IAO:0000115 nl Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C NOT_TRANSLATED +en Warm reactive autoantibody positivity HP:0025440 rdfs:label nl Warmte-reactieve autoantistoffen positiviteit CANDIDATE +en Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress HP:0032301 IAO:0000115 nl Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress NOT_TRANSLATED +en Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas HP:0200043 IAO:0000115 nl Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas NOT_TRANSLATED +en Wasting (atrophy) of the optic chiasm HP:0034008 IAO:0000115 nl Wasting (atrophy) of the optic chiasm NOT_TRANSLATED +en Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas HP:0007791 IAO:0000115 nl Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas NOT_TRANSLATED +en Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility HP:0000029 IAO:0000115 nl Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility NOT_TRANSLATED +en Wasting (atrophy) of the vermis of cerebellum HP:0006855 IAO:0000115 nl Wasting (atrophy) of the vermis of cerebellum NOT_TRANSLATED +en Wasting involving the motor neuron HP:0007373 IAO:0000115 nl Wasting involving the motor neuron NOT_TRANSLATED +en Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor HP:0012037 IAO:0000115 nl Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor NOT_TRANSLATED +en Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head HP:0012036 IAO:0000115 nl Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head NOT_TRANSLATED +en Wasting of the sural nerve, a sensory nerve in the calf region of the leg HP:0032145 IAO:0000115 nl Wasting of the sural nerve, a sensory nerve in the calf region of the leg NOT_TRANSLATED +en Wasting of the tibialis anterior muscle HP:0011399 IAO:0000115 nl Wasting of the tibialis anterior muscle NOT_TRANSLATED +en Wasting of the tongue HP:0012473 IAO:0000115 nl Wasting of the tongue NOT_TRANSLATED +en Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb HP:0003393 IAO:0000115 nl Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb NOT_TRANSLATED +en Wasting or decrease in size of all or part of the duodenum HP:0012414 IAO:0000115 nl Wasting or decrease in size of all or part of the duodenum NOT_TRANSLATED +en Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption HP:0005208 IAO:0000115 nl Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption NOT_TRANSLATED +en Waxy casts HP:0031202 rdfs:label nl Wasachtige cilinders CANDIDATE +en Weak cry HP:0001612 rdfs:label nl Zwakke huil/schreeuw CANDIDATE +en Weak extraocular muscles HP:0007715 rdfs:label nl Zwakke extraoculaire spieren CANDIDATE +en Weak grip HP:0033466 rdfs:label nl Weak grip NOT_TRANSLATED +en Weak pulse HP:0032553 rdfs:label nl Weak pulse NOT_TRANSLATED +en Weak voice HP:0001621 rdfs:label nl Zwakke stem CANDIDATE +en Weakness due to upper motor neuron dysfunction HP:0010549 rdfs:label nl Zwakte ten gevolg van bovenste motor neuron dysfunctie CANDIDATE +en Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position HP:0031607 IAO:0000115 nl Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position NOT_TRANSLATED +en Weakness of all four limbs HP:0002273 IAO:0000115 nl Weakness of all four limbs NOT_TRANSLATED +en Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength HP:0010551 IAO:0000115 nl Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength NOT_TRANSLATED +en Weakness of facial musculature HP:0030319 rdfs:label nl Weakness of facial musculature NOT_TRANSLATED +en Weakness of long finger extensor muscles HP:0009077 rdfs:label nl Zwakte van de extensoren van lange vinger CANDIDATE +en Weakness of muscles of respiration HP:0004347 rdfs:label nl Zwakte van spieren van de ademhaling CANDIDATE +en Weakness of orbicularis oculi muscle HP:0012507 rdfs:label nl Zwakte van de musculus orbicularis oculi CANDIDATE +en Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways HP:0002786 IAO:0000115 nl Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways NOT_TRANSLATED +en Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck HP:0002515 IAO:0000115 nl Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck NOT_TRANSLATED +en Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus HP:0030664 IAO:0000115 nl Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus NOT_TRANSLATED +en Weakness of the intrinsic hand muscles HP:0009005 rdfs:label nl Zwakte van de intrinsieke handspieren CANDIDATE +en Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis HP:0003325 IAO:0000115 nl Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis NOT_TRANSLATED +en Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior) HP:0003722 IAO:0000115 nl Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior) NOT_TRANSLATED +en Weakness of the muscles of the arms HP:0003484 IAO:0000115 nl Weakness of the muscles of the arms NOT_TRANSLATED +en Weakness of the muscles of the legs HP:0007340 IAO:0000115 nl Weakness of the muscles of the legs NOT_TRANSLATED +en Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis HP:0003749 IAO:0000115 nl Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis NOT_TRANSLATED +en Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles HP:0009027 IAO:0000115 nl Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles NOT_TRANSLATED +en Weakness of the peroneal muscles HP:0011727 IAO:0000115 nl Weakness of the peroneal muscles NOT_TRANSLATED +en Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris) HP:0003731 IAO:0000115 nl Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris) NOT_TRANSLATED +en Weakness or partial paralysis in the lower limbs HP:0002385 IAO:0000115 nl Weakness or partial paralysis in the lower limbs NOT_TRANSLATED +en Weakness or softness of the cartilage in the walls of the bronchial tubes HP:0002780 IAO:0000115 nl Weakness or softness of the cartilage in the walls of the bronchial tubes NOT_TRANSLATED +en Webbed neck HP:0000465 rdfs:label nl Vliesachtige huidplooien tussen nek en schouders CANDIDATE +en Webbed penis HP:0030264 rdfs:label nl Webbed penis NOT_TRANSLATED +en Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput HP:0000243 IAO:0000115 nl Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput NOT_TRANSLATED +en Weight loss HP:0001824 rdfs:label nl Gewichtsverlies CANDIDATE +en Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss HP:0001105 IAO:0000115 nl Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss NOT_TRANSLATED +en Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss HP:0007401 IAO:0000115 nl Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss NOT_TRANSLATED +en Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue HP:0030121 IAO:0000115 nl Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue NOT_TRANSLATED +en Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue HP:0030120 IAO:0000115 nl Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue NOT_TRANSLATED +en Wheezing HP:0030828 rdfs:label nl Piepende ademhaling CANDIDATE +en When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval HP:0003300 IAO:0000115 nl When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval NOT_TRANSLATED +en When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity HP:0001795 IAO:0000115 nl When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity NOT_TRANSLATED +en When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity HP:0001812 IAO:0000115 nl When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity NOT_TRANSLATED +en When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity HP:0030055 IAO:0000115 nl When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity NOT_TRANSLATED +en Whistling appearance HP:0000346 rdfs:label nl Fluitend uiterlijk CANDIDATE +en White appearance (radio-opaqueness) of a paranasal sinus on radiography HP:0034494 IAO:0000115 nl White appearance (radio-opaqueness) of a paranasal sinus on radiography NOT_TRANSLATED +en White cerebellum sign HP:0034355 rdfs:label nl White cerebellum sign NOT_TRANSLATED +en White color (lack of pigmentation) of the eyebrow HP:0002226 IAO:0000115 nl White color (lack of pigmentation) of the eyebrow NOT_TRANSLATED +en White color (lack of pigmentation) of the eyelashes HP:0002227 IAO:0000115 nl White color (lack of pigmentation) of the eyelashes NOT_TRANSLATED +en White discoloration of the nails HP:0001820 IAO:0000115 nl White discoloration of the nails NOT_TRANSLATED +en White eyebrow HP:0002226 rdfs:label nl Witte wenkbrauw CANDIDATE +en White eyelashes HP:0002227 rdfs:label nl Witte wimpers CANDIDATE +en White forelock HP:0002211 rdfs:label nl Witte voorlok CANDIDATE +en White hair HP:0011364 rdfs:label nl Wit haar CANDIDATE +en White lesion of the oral mucosa HP:0025125 rdfs:label nl Witte laesie van de orale mucosa CANDIDATE +en White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white HP:0025125 IAO:0000115 nl White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white NOT_TRANSLATED +en White mater abnormalities in the posterior periventricular region HP:0006812 rdfs:label nl Witte stof afwijkingen in de posterieure periventriculaire regio CANDIDATE +en White oral mucosal macule HP:0033026 rdfs:label nl White oral mucosal macule NOT_TRANSLATED +en White papule HP:0031289 rdfs:label nl Witte papel CANDIDATE +en White scaling skin HP:0040190 rdfs:label nl Witte schilferige huid CANDIDATE +en White streaks/specks on enamel HP:0025123 rdfs:label nl Witte strepen/vlekjes op glazuur CANDIDATE +en Whole-immunoglobulin paraproteinemia HP:0031050 rdfs:label nl Whole-immunoglobulin paraproteinemia NOT_TRANSLATED +en Whooping cough HP:0031247 rdfs:label nl Kinkhoest CANDIDATE +en Wide anterior fontanel HP:0000260 rdfs:label nl Wijde voorste fontanel CANDIDATE +en Wide capital femoral epiphyses HP:0008784 rdfs:label nl Wijde epifysen van de femurkop CANDIDATE +en Wide cavum septum pellucidum HP:0034964 rdfs:label nl Breed cavum septum pellucidum OFFICIAL orcid:0000-0002-5648-2155 TECHNICAL_SPECIALIST|DOMAIN_EXPERT 2024-11-26 +en Wide cranial sutures HP:0010537 rdfs:label nl Brede craniale suturen CANDIDATE +en Wide distal femoral metaphysis HP:0006387 rdfs:label nl Wijde distale metafyse van femur CANDIDATE +en Wide epiphyseal plates of the upper limbs HP:0003846 rdfs:label nl Brede epifysaire platen van bovenste ledematen CANDIDATE +en Wide epiphyses of the upper limbs HP:0003904 rdfs:label nl Brede epifysen van de bovenste ledematen CANDIDATE +en Wide hamate bone HP:0004261 rdfs:label nl Breed os hamatum CANDIDATE +en Wide humeral diaphysis HP:0003935 rdfs:label nl Brede diafyse van humerus CANDIDATE +en Wide humerus HP:0003886 rdfs:label nl Wijde humerus CANDIDATE +en Wide intermamillary distance HP:0006610 rdfs:label nl Brede intermamillaire afstand CANDIDATE +en Wide mouth HP:0000154 rdfs:label nl Brede mond CANDIDATE +en Wide nasal base HP:0012810 rdfs:label nl Brede neusbasis CANDIDATE +en Wide nasal bridge HP:0000431 rdfs:label nl Brede neusbrug CANDIDATE +en Wide nasal ridge HP:0012811 rdfs:label nl Wide nasal ridge NOT_TRANSLATED +en Wide nose HP:0000445 rdfs:label nl Brede neus CANDIDATE +en Wide penis HP:0030265 rdfs:label nl Brede penis CANDIDATE +en Wide proximal femoral metaphysis HP:0008783 rdfs:label nl Wijde proximale metafyse van femur CANDIDATE +en Wide pubic symphysis HP:0003183 rdfs:label nl Breed symphysis pubis CANDIDATE +en Wide radioulnar joints HP:0003973 rdfs:label nl Brede radioulnair gewrichten CANDIDATE +en Wide space between 4th and 5th toe HP:0410261 rdfs:label nl Wide space between 4th and 5th toe NOT_TRANSLATED +en Wide tufts of distal phalanges HP:0006095 rdfs:label nl Wide tufts of distal phalanges NOT_TRANSLATED +en Wide ulnar metaphysis HP:0004047 rdfs:label nl Wijde metafyse van de ulna CANDIDATE +en Wide, concave anterior rib end HP:0000907 IAO:0000115 nl Wide, concave anterior rib end NOT_TRANSLATED +en Wide, concave posterior rib end HP:0000922 IAO:0000115 nl Wide, concave posterior rib end NOT_TRANSLATED +en Wide, concave rib end HP:0000887 IAO:0000115 nl Wide, concave rib end NOT_TRANSLATED +en Wide-cupped costochondral junctions HP:0000910 rdfs:label nl Breed gecupte costochondrale verbindingen CANDIDATE +en Widely patent coronal suture HP:0005442 rdfs:label nl Wijde open coronale sutuur CANDIDATE +en Widely patent fontanelles and sutures HP:0004492 rdfs:label nl Wijde open fontanellen en suturen CANDIDATE +en Widely patent sagittal suture HP:0005476 rdfs:label nl Wijde open sagitale sutuur CANDIDATE +en Widely spaced primary teeth HP:0006313 rdfs:label nl Ver uit elkaar staande primaire tanden CANDIDATE +en Widely spaced teeth HP:0000687 rdfs:label nl Ver uit elkaar staande tanden CANDIDATE +en Widely spaced toes HP:0008094 rdfs:label nl Ver uit elkaar staande tenen CANDIDATE +en Widely-spaced incisors HP:0006304 rdfs:label nl Ver uit elkaar staande snijtanden CANDIDATE +en Widely-spaced maxillary central incisors HP:0001566 rdfs:label nl Wijd gespreide centrale bovensnijtanden CANDIDATE +en Widened atrophic scar HP:0031158 rdfs:label nl Verbreed atrofisch litteken CANDIDATE +en Widened cerebellar subarachnoid space HP:0012765 rdfs:label nl Verbrede cerebellaire subarachnoïdale ruimte CANDIDATE +en Widened cerebral subarachnoid space HP:0012766 rdfs:label nl Verbrede cerebrale subarachnoïdale ruimte CANDIDATE +en Widened distal phalanges HP:0006200 rdfs:label nl Verbrede distale falangen CANDIDATE +en Widened greater sciatic notch HP:0008798 rdfs:label nl Verbrede incisura ischiadica CANDIDATE +en Widened interpedicular distance HP:0012679 rdfs:label nl Verbreedde interpediculaire afstand CANDIDATE +en Widened mediastinum HP:0034501 rdfs:label nl Widened mediastinum NOT_TRANSLATED +en Widened metacarpal shaft HP:0006012 rdfs:label nl Verwijde metacarpale schaft CANDIDATE +en Widened proximal tibial metaphyses HP:0005028 rdfs:label nl Verwijde proximale metafyse van de tibia CANDIDATE +en Widened subarachnoid space HP:0012704 rdfs:label nl Verbrede subarachnoïdale ruimte CANDIDATE +en Widening of cervical spinal canal HP:0004571 rdfs:label nl Verbreding van het cervicale spinale kanaal CANDIDATE +en Widening of the femoral head and neck HP:0003279 IAO:0000115 nl Widening of the femoral head and neck NOT_TRANSLATED +en Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing HP:0002869 IAO:0000115 nl Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing NOT_TRANSLATED +en Widening of the nostrils upon inhalation as a manifestation of respiratory distress HP:0030863 IAO:0000115 nl Widening of the nostrils upon inhalation as a manifestation of respiratory distress NOT_TRANSLATED +en Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself HP:0025005 IAO:0000115 nl Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself NOT_TRANSLATED +en Widening, rather than tapering, of the crus at its posterior border near the antihelix HP:0011259 IAO:0000115 nl Widening, rather than tapering, of the crus at its posterior border near the antihelix NOT_TRANSLATED +en Widow's peak HP:0000349 rdfs:label nl Widow's peak CANDIDATE +en Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead HP:0000337 IAO:0000115 nl Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead NOT_TRANSLATED +en Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective) HP:0000341 IAO:0000115 nl Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective) NOT_TRANSLATED +en Width of the incisura from the anterior to posterior border less than that observed in the average population HP:0031231 IAO:0000115 nl Width of the incisura from the anterior to posterior border less than that observed in the average population NOT_TRANSLATED +en Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective) HP:0000189 IAO:0000115 nl Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective) NOT_TRANSLATED +en Wilson sign HP:0032102 rdfs:label nl Wilson sign NOT_TRANSLATED +en Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia HP:0032102 IAO:0000115 nl Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia NOT_TRANSLATED +en Wind-swept deformity of the knees HP:0100531 rdfs:label nl Wind-swept deformity of the knees NOT_TRANSLATED +en With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation HP:0000376 IAO:0000115 nl With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation NOT_TRANSLATED +en With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle) HP:0011552 IAO:0000115 nl With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle) NOT_TRANSLATED +en With the eyes in primary position, the sclera is visible above the superior corneal limbus HP:0500043 IAO:0000115 nl With the eyes in primary position, the sclera is visible above the superior corneal limbus NOT_TRANSLATED +en With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand HP:0001234 IAO:0000115 nl With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand NOT_TRANSLATED +en With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result HP:0025532 IAO:0000115 nl With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result NOT_TRANSLATED +en With the rule astigmatism HP:0031788 rdfs:label nl With the rule astigmatism NOT_TRANSLATED +en Wolff-Parkinson-White syndrome HP:0001716 rdfs:label nl Wolff-Parkinson-White-syndroom CANDIDATE +en Woolly hair HP:0002224 rdfs:label nl Wollig haar CANDIDATE +en Woolly scalp hair HP:0040149 rdfs:label nl Wollig hoofdhaar CANDIDATE +en Wormian bones HP:0002645 rdfs:label nl Naadbeenderen CANDIDATE +en Worse in evening HP:0410401 rdfs:label nl Worse in evening NOT_TRANSLATED +en Wrinkled, redundant, inelastic and sagging skin HP:0000973 IAO:0000115 nl Wrinkled, redundant, inelastic and sagging skin NOT_TRANSLATED +en Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane HP:0033268 IAO:0000115 nl Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane NOT_TRANSLATED +en Wrist drop HP:0031189 rdfs:label nl Wrist drop NOT_TRANSLATED +en Wrist flexion contracture HP:0001239 rdfs:label nl Pols flexiecontractuur CANDIDATE +en Wrist ganglion HP:0020076 rdfs:label nl Wrist ganglion NOT_TRANSLATED +en Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius HP:0004059 IAO:0000115 nl Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius NOT_TRANSLATED +en Wrist pain HP:0030836 rdfs:label nl Pols pijn CANDIDATE +en Wrist swelling HP:0001225 rdfs:label nl Pols zwelling CANDIDATE +en Writer's cramp HP:0002356 rdfs:label nl Schrijverskramp CANDIDATE +en X-linked dominant inheritance HP:0001423 rdfs:label nl X-gebonden dominante overerving CANDIDATE +en X-linked inheritance HP:0001417 rdfs:label nl X-gebonden overerving CANDIDATE +en X-linked recessive inheritance HP:0001419 rdfs:label nl X-gebonden recessieve overerving CANDIDATE +en Xanthelasma HP:0001114 rdfs:label nl Xanthelasma CANDIDATE +en Xanthine nephrolithiasis HP:0000804 rdfs:label nl Xanthine nefrolithiase CANDIDATE +en Xanthinuria HP:0010934 rdfs:label nl Xanthinurie CANDIDATE +en Xanthogranulomatous pyelonephritis HP:0033761 rdfs:label nl Xanthogranulomatous pyelonephritis NOT_TRANSLATED +en Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells HP:0033761 IAO:0000115 nl Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells NOT_TRANSLATED +en Xanthomas of the palmar creases HP:0025530 rdfs:label nl Xanthomas of the palmar creases NOT_TRANSLATED +en Xanthomatosis HP:0000991 rdfs:label nl Xanthomatose CANDIDATE +en Xerostomia HP:0000217 rdfs:label nl Xerostomie CANDIDATE +en Y-linked inheritance HP:0001450 rdfs:label nl Y-gekoppelde overerving CANDIDATE +en Y-shaped metacarpals HP:0006042 rdfs:label nl Y-vormige metacarpalen CANDIDATE +en Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly HP:0006042 IAO:0000115 nl Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly NOT_TRANSLATED +en Y-shaped metatarsals HP:0010567 rdfs:label nl Y-vormige metatarsalen CANDIDATE +en Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly HP:0010567 IAO:0000115 nl Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly NOT_TRANSLATED +en Yellow nails HP:0011367 rdfs:label nl Gele nagels CANDIDATE +en Yellow nodule HP:0025554 rdfs:label nl Gele nodulus CANDIDATE +en Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions HP:0040139 IAO:0000115 nl Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions NOT_TRANSLATED +en Yellow papule HP:0025507 rdfs:label nl Gele papel CANDIDATE +en Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream HP:0000952 IAO:0000115 nl Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream NOT_TRANSLATED +en Yellow skin plaque HP:0031360 rdfs:label nl Gele huid plaque CANDIDATE +en Yellow subcutaneous tissue covered by thin, scaly skin HP:0007525 rdfs:label nl Geel subcutaan weefsel bedekt met een dunne, geschubde huid CANDIDATE +en Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size HP:0032028 IAO:0000115 nl Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED +en Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size HP:0032027 IAO:0000115 nl Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size NOT_TRANSLATED +en Yellow-brown discoloration of the teeth HP:0006286 rdfs:label nl Geel-bruine verkleuring van de tanden CANDIDATE +en Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV HP:0031011 IAO:0000115 nl Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV NOT_TRANSLATED +en Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery HP:0030661 IAO:0000115 nl Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery NOT_TRANSLATED +en Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature HP:0030496 IAO:0000115 nl Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature NOT_TRANSLATED +en Yellow/white lesions of the macula HP:0030500 rdfs:label nl Gele/witte laesies van de macula CANDIDATE +en Yellow/white lesions of the retina HP:0030506 rdfs:label nl Gele/witte laesies van de retina CANDIDATE +en Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula HP:0025110 IAO:0000115 nl Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula NOT_TRANSLATED +en Yellowish discoloration of the nails HP:0011367 IAO:0000115 nl Yellowish discoloration of the nails NOT_TRANSLATED +en Young adult onset HP:0011462 rdfs:label nl Young adult onset CANDIDATE +en Z-band streaming HP:0020203 rdfs:label nl Z-band streaming NOT_TRANSLATED +en Zebra bodies HP:0031361 rdfs:label nl Zebra bodies NOT_TRANSLATED +en Zollinger-Ellison syndrome HP:0002044 rdfs:label nl Zollinger-Ellison syndroom CANDIDATE +en Zonular cataract HP:0010920 rdfs:label nl Zonulair cataract CANDIDATE +en Zonular cataracts are defined to be cataracts that affect specific regions of the lens HP:0010920 IAO:0000115 nl Zonular cataracts are defined to be cataracts that affect specific regions of the lens NOT_TRANSLATED +en Zygotic cleavage failure HP:0033336 rdfs:label nl Zygotic cleavage failure NOT_TRANSLATED +en anti-LAD-1 antibody positivity HP:4000027 rdfs:label nl anti-LAD-1 antibody positivity NOT_TRANSLATED +en triggered by allergens HP:0034423 rdfs:label nl triggered by allergens NOT_TRANSLATED diff --git a/babelon/hp-nl.synonyms.tsv b/babelon/hp-nl.synonyms.tsv index 6b71c0b..b0160b9 100644 --- a/babelon/hp-nl.synonyms.tsv +++ b/babelon/hp-nl.synonyms.tsv @@ -1,20737 +1,20737 @@ -subject_id translation_value comment -ID AL oboInOwl:hasExactSynonym@nl -HP:0000003 Multicystic dysplastic kidney NOT_TRANSLATED -HP:0000003 Multicystic kidneys NOT_TRANSLATED -HP:0000003 Multicystic renal dysplasia NOT_TRANSLATED -HP:0000005 Overerving CANDIDATE -HP:0000006 Autosomal dominant NOT_TRANSLATED -HP:0000006 Autosomal dominant form NOT_TRANSLATED -HP:0000006 Autosomal dominant type NOT_TRANSLATED -HP:0000006 monoallelic_autosomal NOT_TRANSLATED -HP:0000007 Autosomal recessive NOT_TRANSLATED -HP:0000007 Autosomal recessive form NOT_TRANSLATED -HP:0000007 Autosomal recessive predisposition NOT_TRANSLATED -HP:0000007 biallelic_autosomal NOT_TRANSLATED -HP:0000008 Abnormality of female internal genitalia NOT_TRANSLATED -HP:0000009 Beperkte blaasfunctie CANDIDATE -HP:0000010 Frequent urinary tract infections NOT_TRANSLATED -HP:0000010 Recurrent UTIs NOT_TRANSLATED -HP:0000010 Repeated bladder infections NOT_TRANSLATED -HP:0000010 Repeated urinary tract infections NOT_TRANSLATED -HP:0000010 Urinary tract infections NOT_TRANSLATED -HP:0000010 Urinary tract infections, recurrent NOT_TRANSLATED -HP:0000011 Lack of bladder control due to nervous system injury NOT_TRANSLATED -HP:0000012 Overactive bladder NOT_TRANSLATED -HP:0000012 Overactive bladder syndrome NOT_TRANSLATED -HP:0000012 Urgency frequency syndrome NOT_TRANSLATED -HP:0000013 Hypoplastic uterus NOT_TRANSLATED -HP:0000013 Rudimentary uterus NOT_TRANSLATED -HP:0000013 Small uterus NOT_TRANSLATED -HP:0000013 Underdeveloped uterus NOT_TRANSLATED -HP:0000015 Bladder diverticula NOT_TRANSLATED -HP:0000016 Increased post-void residual urine volume NOT_TRANSLATED -HP:0000017 Nycturia NOT_TRANSLATED -HP:0032786 Migrating partial seizure NOT_TRANSLATED -HP:0000019 Difficulty with flow NOT_TRANSLATED -HP:0000020 Bladder incontinence NOT_TRANSLATED -HP:0000020 Loss of bladder control NOT_TRANSLATED -HP:0032789 Focal aware behaviour arrest seizure NOT_TRANSLATED -HP:0032790 Focal impaired awareness behaviour arrest seizure NOT_TRANSLATED -HP:0000024 Ontsteking van de prostaat CANDIDATE -HP:0000026 Verminderde functie van mannelijke gonaden CANDIDATE -HP:0000027 Ontbreken van zaadcellen in het sperma CANDIDATE -HP:0032795 Generalised myoclonic-tonic-clonic seizure NOT_TRANSLATED -HP:0032795 Generalised onset myoclonic-tonic-clonic seizure NOT_TRANSLATED -HP:0032795 generalised onset myoclonic-tonic-clonic seizure NOT_TRANSLATED -HP:0032795 Generalised-onset myoclonic-tonic-clonic seizure NOT_TRANSLATED -HP:0032795 generalized onset myoclonic-tonic-clonic seizure NOT_TRANSLATED -HP:0032795 Generalized-onset myoclonic-tonic-clonic seizure NOT_TRANSLATED -HP:0000028 Cryptorchism NOT_TRANSLATED -HP:0000028 Undescended testes NOT_TRANSLATED -HP:0000028 Undescended testis NOT_TRANSLATED -HP:0000029 Testicular degeneration NOT_TRANSLATED -HP:0000030 Gonadoblastoma, mannelijke CANDIDATE -HP:0000033 Ambiguous genitalia in males NOT_TRANSLATED -HP:0000034 Hydrocele NOT_TRANSLATED -HP:0000034 Testicular hydrocele NOT_TRANSLATED -HP:0000035 Abnormality of the testis NOT_TRANSLATED -HP:0000035 Anomaly of the testes NOT_TRANSLATED -HP:0000036 Abnormality of the penis NOT_TRANSLATED -HP:0000040 Vergrote penis CANDIDATE -HP:0032810 Cephalic aura NOT_TRANSLATED -HP:0032810 Focal seizure with cephalic sensation NOT_TRANSLATED -HP:0032810 Partial seizure with cephalic sensation NOT_TRANSLATED -HP:0000044 Hypogonadotrophic hypogonadism NOT_TRANSLATED -HP:0000044 Isolated hypogonadotropic hypogonadism NOT_TRANSLATED -HP:0000044 Low gonadotropins (secondary hypogonadism) NOT_TRANSLATED -HP:0000046 Hypoplastisch scrotum CANDIDATE -HP:0032814 Neonatal electroclinical clonic seizure NOT_TRANSLATED -HP:0000047 Hypospadie CANDIDATE -HP:0032815 Neonatal electroclinical myoclonic seizure NOT_TRANSLATED -HP:0000048 Cleft of scrotum NOT_TRANSLATED -HP:0000048 Scrotal cleft NOT_TRANSLATED -HP:0000049 Overriding scrotum NOT_TRANSLATED -HP:0000049 Scrotum surrounds penis NOT_TRANSLATED -HP:0000050 Hypoplastic male genitalia NOT_TRANSLATED -HP:0000050 Small male external genitalia NOT_TRANSLATED -HP:0000050 Underdeveloped male genitalia NOT_TRANSLATED -HP:0000053 Large testicles NOT_TRANSLATED -HP:0000053 Large testis NOT_TRANSLATED -HP:0000054 Short penis NOT_TRANSLATED -HP:0000054 Small penis NOT_TRANSLATED -HP:0000055 Abnormal female external genitalia NOT_TRANSLATED -HP:0032823 Neonatal electro-clinical seizure with behaviour arrest NOT_TRANSLATED -HP:0032823 Neonatal electroclinical seizure with behavioural arrest NOT_TRANSLATED -HP:0000056 Afwijking van de clitoris CANDIDATE -HP:0032825 Neonatal electroclinical sequential seizure NOT_TRANSLATED -HP:0000058 Abnormality of the labia NOT_TRANSLATED -HP:0000059 Hypoplasia of labia majora NOT_TRANSLATED -HP:0000059 Small labia majora NOT_TRANSLATED -HP:0000059 Underdeveloped vaginal lips NOT_TRANSLATED -HP:0000060 Hypoplastic clitoris NOT_TRANSLATED -HP:0000060 Small clitoris NOT_TRANSLATED -HP:0000060 Underdeveloped clit NOT_TRANSLATED -HP:0000061 Ambiguous genitalia due to virilization NOT_TRANSLATED -HP:0000061 Atypical appearance of female genitals NOT_TRANSLATED -HP:0032829 Neonatal electroclinical motor seizure with automatism NOT_TRANSLATED -HP:0000062 Ambiguous external genitalia NOT_TRANSLATED -HP:0000062 Ambiguous external genitalia at birth NOT_TRANSLATED -HP:0000062 Intersex genitalia NOT_TRANSLATED -HP:0000063 Fused inner lips NOT_TRANSLATED -HP:0000064 Underdeveloped inner lips NOT_TRANSLATED -HP:0000065 Enlarged vaginal lips NOT_TRANSLATED -HP:0000065 Enlargement of the labia NOT_TRANSLATED -HP:0000065 Enlargement of the vaginal lips NOT_TRANSLATED -HP:0000066 Hypoplastic labia NOT_TRANSLATED -HP:0000066 Underdeveloped labia NOT_TRANSLATED -HP:0000068 Absent urethral opening NOT_TRANSLATED -HP:0000068 Urethral opening absent NOT_TRANSLATED -HP:0000069 Afwijking van de ureters CANDIDATE -HP:0000069 Uretrale afwijkingen CANDIDATE -HP:0000071 Narrowing of the ureter NOT_TRANSLATED -HP:0000072 Dilated ureter NOT_TRANSLATED -HP:0000072 Megaureter NOT_TRANSLATED -HP:0000072 Swelling of ureter NOT_TRANSLATED -HP:0000072 Ureteral dilatation NOT_TRANSLATED -HP:0000072 Uroureter NOT_TRANSLATED -HP:0000072 Wide ureter NOT_TRANSLATED -HP:0000073 Dubbele urineleider CANDIDATE -HP:0000074 Pelviureteric junction obstruction NOT_TRANSLATED -HP:0000074 Ureteropelvic junction stenosis NOT_TRANSLATED -HP:0032842 Generalised onset epileptic spasm NOT_TRANSLATED -HP:0032842 Generalised-onset epileptic spasm NOT_TRANSLATED -HP:0032842 Generalized onset epileptic spasm NOT_TRANSLATED -HP:0000075 Extra kidney NOT_TRANSLATED -HP:0000075 Supernumerary kidney NOT_TRANSLATED -HP:0032843 Focal onset epileptic spasm NOT_TRANSLATED -HP:0000076 Ureteral reflux NOT_TRANSLATED -HP:0000076 Ureteric reflux NOT_TRANSLATED -HP:0000076 Vesico-ureteral reflux NOT_TRANSLATED -HP:0000076 Vesicoureteric reflux NOT_TRANSLATED -HP:0000077 Abnormal kidney NOT_TRANSLATED -HP:0000077 Renal anomalies NOT_TRANSLATED -HP:0000077 Renal anomaly NOT_TRANSLATED -HP:0000078 Abnormality of the reproductive system NOT_TRANSLATED -HP:0000078 Genital abnormalities NOT_TRANSLATED -HP:0000078 Genital abnormality NOT_TRANSLATED -HP:0000078 Genital anomalies NOT_TRANSLATED -HP:0000078 Genital defects NOT_TRANSLATED -HP:0000079 Urinary tract abnormalities NOT_TRANSLATED -HP:0000079 Urinary tract abnormality NOT_TRANSLATED -HP:0000079 Urinary tract anomalies NOT_TRANSLATED -HP:0000080 Abnormality of genital physiology NOT_TRANSLATED -HP:0000080 Genital functional abnormality NOT_TRANSLATED -HP:0000081 Double collecting system NOT_TRANSLATED -HP:0000081 Double urinary collecting systems on intravenous pyelography NOT_TRANSLATED -HP:0000081 Duplex collecting system NOT_TRANSLATED -HP:0000081 Duplicated renal collecting system NOT_TRANSLATED -HP:0000083 Renal failure NOT_TRANSLATED -HP:0000083 Renal failure in adulthood NOT_TRANSLATED -HP:0000085 Hoefijzernieren CANDIDATE -HP:0000086 Abnormal kidney location NOT_TRANSLATED -HP:0000086 Displaced kidney NOT_TRANSLATED -HP:0000086 Ectopic kidneys NOT_TRANSLATED -HP:0000086 Renal ectopia NOT_TRANSLATED -HP:0032855 Photically induced myoclonic-tonic-clonic seizure NOT_TRANSLATED -HP:0000089 Hypoplastic kidney NOT_TRANSLATED -HP:0000089 Hypoplastic kidneys NOT_TRANSLATED -HP:0000089 Small kidneys NOT_TRANSLATED -HP:0000089 Underdeveloped kidneys NOT_TRANSLATED -HP:0032857 Focal motor aware seizure with negative myoclonus NOT_TRANSLATED -HP:0000090 juvenile nephronophthisis NOT_TRANSLATED -HP:0032858 Focal motor impaired awareness seizure with negative myoclonus NOT_TRANSLATED -HP:0000091 Abnormality of the renal tubule NOT_TRANSLATED -HP:0000091 Morphologic abnormality of the renal tubules NOT_TRANSLATED -HP:0032859 Focal motor impaired awareness seizure with paresis/paralysis NOT_TRANSLATED -HP:0000092 Renal tubular cell atrophy NOT_TRANSLATED -HP:0000092 Tubular atrophy NOT_TRANSLATED -HP:0032860 Absence status epilepticus NOT_TRANSLATED -HP:0032860 Generalised non-convulsive status epilepticus without coma NOT_TRANSLATED -HP:0032860 Petit mal status epilepticus NOT_TRANSLATED -HP:0000093 High urine protein levels NOT_TRANSLATED -HP:0000093 Protein in urine NOT_TRANSLATED -HP:0032861 Focal non-convulsive status epilepticus with impairment of awareness NOT_TRANSLATED -HP:0032862 Focal inhibitory status epilepticus NOT_TRANSLATED -HP:0000095 Abnormality of renal glomerulus morphology NOT_TRANSLATED -HP:0000095 Morphologic abnormality of the renal glomerulus NOT_TRANSLATED -HP:0032863 Simple absence status epilepticus NOT_TRANSLATED -HP:0000096 Glomerulosclerosis NOT_TRANSLATED -HP:0000096 Renal glomerular fibrosis NOT_TRANSLATED -HP:0000097 Focal and segmental glomerular sclerosis NOT_TRANSLATED -HP:0000097 Focal and segmental glomerulosclerosis NOT_TRANSLATED -HP:0000097 focal glomerulosclerosis NOT_TRANSLATED -HP:0000098 Accelerated linear growth NOT_TRANSLATED -HP:0000098 Increased body height NOT_TRANSLATED -HP:0000098 Increased linear growth NOT_TRANSLATED -HP:0000099 Glomerular nephritis NOT_TRANSLATED -HP:0000100 Nefrosis CANDIDATE -HP:0032869 Aura continua NOT_TRANSLATED -HP:0032869 Focal non-convulsive status epilepticus with retained awareness NOT_TRANSLATED -HP:0032869 Focal non-convulsive status epilepticus without impairment of awareness NOT_TRANSLATED -HP:0000103 Increased urine output NOT_TRANSLATED -HP:0000104 Absent kidney NOT_TRANSLATED -HP:0000104 Missing kidney NOT_TRANSLATED -HP:0000104 Renal aplasia NOT_TRANSLATED -HP:0000105 Large kidney NOT_TRANSLATED -HP:0000105 Large kidneys NOT_TRANSLATED -HP:0000105 Nephromegaly NOT_TRANSLATED -HP:0000105 Renal enlargement NOT_TRANSLATED -HP:0000107 Cystic kidney disease NOT_TRANSLATED -HP:0000107 Cystic kidneys NOT_TRANSLATED -HP:0000107 Kidney cyst NOT_TRANSLATED -HP:0000107 Renal cysts NOT_TRANSLATED -HP:0000108 Corticomedullary renal cysts NOT_TRANSLATED -HP:0000108 Renal corticomedullary cystic disease NOT_TRANSLATED -HP:0000110 Dysplastic kidneys NOT_TRANSLATED -HP:0000110 Renal adysplasia NOT_TRANSLATED -HP:0000112 Kidney damage NOT_TRANSLATED -HP:0000112 Kidney disease NOT_TRANSLATED -HP:0000113 Enlarged polycystic kidneys NOT_TRANSLATED -HP:0000113 Polycystic kidney disease NOT_TRANSLATED -HP:0000113 Polycystic kidneys NOT_TRANSLATED -HP:0000114 Proximal renal tubule defect NOT_TRANSLATED -HP:0000114 Proximal renal tubulopathy NOT_TRANSLATED -HP:0000114 Proximal tubular defect NOT_TRANSLATED -HP:0000114 Proximal tubule dysfunction NOT_TRANSLATED -HP:0000114 Selective proximal tubular damage NOT_TRANSLATED -HP:0000117 Decreased renal tubular phosphate reabsorption NOT_TRANSLATED -HP:0000117 Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate NOT_TRANSLATED -HP:0000117 Tubular phosphate reabsorption low NOT_TRANSLATED -HP:0000118 Organ abnormality NOT_TRANSLATED -HP:0000119 Abnormality of the GU system NOT_TRANSLATED -HP:0000119 Genitourinary abnormality NOT_TRANSLATED -HP:0000119 Genitourinary disease NOT_TRANSLATED -HP:0000119 Genitourinary dysplasia NOT_TRANSLATED -HP:0000119 Genitourinary tract anomalies NOT_TRANSLATED -HP:0000119 Genitourinary tract malformation NOT_TRANSLATED -HP:0000119 Urogenital abnormalities NOT_TRANSLATED -HP:0000119 Urogenital anomalies NOT_TRANSLATED -HP:0032887 Generalised atonic seizure NOT_TRANSLATED -HP:0000121 Increased calcium level in kidney NOT_TRANSLATED -HP:0000121 Too much calcium deposited in kidneys NOT_TRANSLATED -HP:0000122 Absent kidney on one side NOT_TRANSLATED -HP:0000122 Missing one kidney NOT_TRANSLATED -HP:0000122 Single kidney NOT_TRANSLATED -HP:0000122 Unilateral kidney agenesis NOT_TRANSLATED -HP:0000123 Nierontsteking CANDIDATE -HP:0032891 Focal motor aware seizure with version NOT_TRANSLATED -HP:0000124 Abnormal function of filtrating structures in kidney NOT_TRANSLATED -HP:0000124 Renal tubular defect NOT_TRANSLATED -HP:0000124 Renal tubular disease NOT_TRANSLATED -HP:0000125 Sacral kidney NOT_TRANSLATED -HP:0032894 Fever induced seizure NOT_TRANSLATED -HP:0000127 Loss of salt in urine NOT_TRANSLATED -HP:0000127 Renal salt-wasting NOT_TRANSLATED -HP:0000127 Salt wasting NOT_TRANSLATED -HP:0000127 Salt-wasting NOT_TRANSLATED -HP:0000128 Renal K wasting NOT_TRANSLATED -HP:0000130 Uterine abnormalities NOT_TRANSLATED -HP:0000130 Uterine malformations NOT_TRANSLATED -HP:0000131 Benign uterine leiomyomas NOT_TRANSLATED -HP:0000131 Uterine fibroid NOT_TRANSLATED -HP:0000132 Abnormally heavy bleeding during menstruation NOT_TRANSLATED -HP:0000132 Abnormally heavy periods NOT_TRANSLATED -HP:0000132 Hypermenorrhea NOT_TRANSLATED -HP:0000133 Mixed gonadal dysgenesis NOT_TRANSLATED -HP:0000133 Pure gonadal dysgenesis NOT_TRANSLATED -HP:0000134 Hypogonadism, female NOT_TRANSLATED -HP:0000135 Decreased activity of gonads NOT_TRANSLATED -HP:0000137 Abnormality of the ovaries NOT_TRANSLATED -HP:0000137 Ovarian disease NOT_TRANSLATED -HP:0000138 Cystic abnormalities of the ovaries NOT_TRANSLATED -HP:0000138 Cystic ovaries NOT_TRANSLATED -HP:0000138 Ovarian cystic abnormality NOT_TRANSLATED -HP:0000139 Sagging uterus NOT_TRANSLATED -HP:0000140 Menstrual abnormalities NOT_TRANSLATED -HP:0000141 Abnormal absence of menstruation NOT_TRANSLATED -HP:0000142 Vaginal malformation NOT_TRANSLATED -HP:0000143 Abnormal connection between rectum and vagina NOT_TRANSLATED -HP:0000144 Abnormale vruchtbaarheid CANDIDATE -HP:0000145 Transverse vaginal membrane NOT_TRANSLATED -HP:0000147 Polycystic ovary NOT_TRANSLATED -HP:0000147 Polycystic ovary disease NOT_TRANSLATED -HP:0000147 Sclerocystic ovaries NOT_TRANSLATED -HP:0000148 Abnormally closed or absent vagina NOT_TRANSLATED -HP:0000149 Gonadoblastoma, female NOT_TRANSLATED -HP:0000151 Absent uterus NOT_TRANSLATED -HP:0000151 uterus absent NOT_TRANSLATED -HP:0000152 Head and neck abnormality NOT_TRANSLATED -HP:0000153 Abnormal mouth NOT_TRANSLATED -HP:0000154 Broad mouth NOT_TRANSLATED -HP:0000154 Large mouth NOT_TRANSLATED -HP:0000154 Large oral aperture NOT_TRANSLATED -HP:0000154 Macrostomia NOT_TRANSLATED -HP:0000155 Mouth sore NOT_TRANSLATED -HP:0000155 Mouth ulcer NOT_TRANSLATED -HP:0000155 Oral mucosal ulceration NOT_TRANSLATED -HP:0000157 Abnormal tongue NOT_TRANSLATED -HP:0000157 Glossal abnormality NOT_TRANSLATED -HP:0000157 Lingual abnormality NOT_TRANSLATED -HP:0000157 Tongue abnormality NOT_TRANSLATED -HP:0000158 Abnormally large tongue NOT_TRANSLATED -HP:0000158 Glossal hypertrophy NOT_TRANSLATED -HP:0000158 Hyperplasia of the tongue NOT_TRANSLATED -HP:0000158 Hypertrophy of the tongue NOT_TRANSLATED -HP:0000158 Increased size of tongue NOT_TRANSLATED -HP:0000158 Large tongue NOT_TRANSLATED -HP:0000158 Lingual hyperplasia NOT_TRANSLATED -HP:0000158 Lingual hypertrophy NOT_TRANSLATED -HP:0000158 Tongue hypertrophy NOT_TRANSLATED -HP:0000159 Abnormal lip NOT_TRANSLATED -HP:0000159 Abnormality of the lip NOT_TRANSLATED -HP:0000159 Anomaly of lip NOT_TRANSLATED -HP:0000159 Deformity of lip NOT_TRANSLATED -HP:0000159 Lip abnormality NOT_TRANSLATED -HP:0000159 Malformation of lip NOT_TRANSLATED -HP:0000160 Microstomia NOT_TRANSLATED -HP:0000160 Small mouth NOT_TRANSLATED -HP:0000160 Small oral aperture NOT_TRANSLATED -HP:0032928 Elevated CSF neurofilament light chain NOT_TRANSLATED -HP:0000161 Central cleft upper lip NOT_TRANSLATED -HP:0000161 Midline cleft lip NOT_TRANSLATED -HP:0000162 Lingual retraction NOT_TRANSLATED -HP:0000162 Posterior displacement of the tongue NOT_TRANSLATED -HP:0000162 Retraction of the tongue NOT_TRANSLATED -HP:0000163 Abnormality of the oral cavity NOT_TRANSLATED -HP:0000164 Abnormal dentition NOT_TRANSLATED -HP:0000164 Abnormal teeth NOT_TRANSLATED -HP:0000164 Abnormality of the teeth NOT_TRANSLATED -HP:0000164 Dental abnormalities NOT_TRANSLATED -HP:0000164 Dental abnormality NOT_TRANSLATED -HP:0000164 Dental anomalies NOT_TRANSLATED -HP:0000164 Dental problem NOT_TRANSLATED -HP:0000164 Dental problems NOT_TRANSLATED -HP:0000164 Tooth abnormalities NOT_TRANSLATED -HP:0032932 Elevated circulating pancreatic triacylglycerol lipase activity NOT_TRANSLATED -HP:0000166 Severe gum disease NOT_TRANSLATED -HP:0000166 Severe periodontal disease NOT_TRANSLATED -HP:0000166 Severe pyorrhea NOT_TRANSLATED -HP:0000168 Abnormality of the gums NOT_TRANSLATED -HP:0000168 Gingival abnormality NOT_TRANSLATED -HP:0032936 Re-experiencing symptom NOT_TRANSLATED -HP:0000169 Gingival fibroma NOT_TRANSLATED -HP:0000169 Gingival fibrous nodules NOT_TRANSLATED -HP:0000169 Hereditary gingival fibromatosis NOT_TRANSLATED -HP:0000169 Idiopathic gingival hyperplasia NOT_TRANSLATED -HP:0000171 Abnormally small tongue NOT_TRANSLATED -HP:0000171 Decreased size of tongue NOT_TRANSLATED -HP:0000171 Hypoglossia NOT_TRANSLATED -HP:0000171 Hypoplasia of the tongue NOT_TRANSLATED -HP:0000171 Hypoplastic tongue NOT_TRANSLATED -HP:0000171 Lingual hypoplasia NOT_TRANSLATED -HP:0000171 Rudimentary tongue NOT_TRANSLATED -HP:0000171 Small tongue NOT_TRANSLATED -HP:0000171 Underdevelopment of the tongue NOT_TRANSLATED -HP:0000172 Abnormality of palatine uvula NOT_TRANSLATED -HP:0000172 Abnormality of the uvula NOT_TRANSLATED -HP:0000174 Abnormality of the palate NOT_TRANSLATED -HP:0000174 Abnormality of the roof of the mouth NOT_TRANSLATED -HP:0000174 Palatal anomaly NOT_TRANSLATED -HP:0000174 Palate abnormality NOT_TRANSLATED -HP:0000175 Cleft hard and soft palate NOT_TRANSLATED -HP:0000175 Cleft of hard and soft palate NOT_TRANSLATED -HP:0000175 Cleft of palate NOT_TRANSLATED -HP:0000175 Cleft roof of mouth NOT_TRANSLATED -HP:0000175 Cleft secondary palate NOT_TRANSLATED -HP:0000175 Palatoschisis NOT_TRANSLATED -HP:0000175 Uranostaphyloschisis NOT_TRANSLATED -HP:0000176 Partial thickness cleft hard palate NOT_TRANSLATED -HP:0000176 Submucosal cleft palate NOT_TRANSLATED -HP:0000176 Submucous clefting NOT_TRANSLATED -HP:0000177 Abnormality of upper lip NOT_TRANSLATED -HP:0000177 Anomaly of the upper lip NOT_TRANSLATED -HP:0000177 Deformity of the upper lip NOT_TRANSLATED -HP:0000177 Malformation of the upper lip NOT_TRANSLATED -HP:0000178 Abnormality of lower lip NOT_TRANSLATED -HP:0000178 Anomaly of the lower lip NOT_TRANSLATED -HP:0000178 Deformity of the lower lip NOT_TRANSLATED -HP:0000178 Malformation of the lower lip NOT_TRANSLATED -HP:0000179 Full lower lip NOT_TRANSLATED -HP:0000179 Full lower lip vermilion NOT_TRANSLATED -HP:0000179 Increased height of lower lip vermilion NOT_TRANSLATED -HP:0000179 Increased volume of lower lip NOT_TRANSLATED -HP:0000179 Increased volume of lower lip vermilion NOT_TRANSLATED -HP:0000179 Plump lower lip NOT_TRANSLATED -HP:0000179 Prominent lower lip NOT_TRANSLATED -HP:0000179 Prominent lower lip vermilion NOT_TRANSLATED -HP:0000179 Thick lower lip NOT_TRANSLATED -HP:0000179 Thick red part of the lower lip NOT_TRANSLATED -HP:0000179 Thick vermilion border of lower lip NOT_TRANSLATED -HP:0000180 Bumpy tongue NOT_TRANSLATED -HP:0000180 Lingual lobules NOT_TRANSLATED -HP:0000180 Lobulate tongue NOT_TRANSLATED -HP:0000182 Abnormality of lingual movement NOT_TRANSLATED -HP:0032950 Abnormal renal tubular luminal morphology NOT_TRANSLATED -HP:0000183 Difficulty in lingual movements NOT_TRANSLATED -HP:0000183 Hypokinesia of the tongue NOT_TRANSLATED -HP:0000183 Lingual hypokinesia NOT_TRANSLATED -HP:0032952 Common-type renal tubular atrophy NOT_TRANSLATED -HP:0000185 Cleft muscular palate NOT_TRANSLATED -HP:0000185 Cleft of soft palate NOT_TRANSLATED -HP:0000185 Cleft velum NOT_TRANSLATED -HP:0000187 Broad alveolar margins NOT_TRANSLATED -HP:0000187 Broad alveolar processes of jaw NOT_TRANSLATED -HP:0000187 Wide alveolar margins NOT_TRANSLATED -HP:0000187 Wide alveolar processes of jaw NOT_TRANSLATED -HP:0000187 Wide gum ridges NOT_TRANSLATED -HP:0000187 Widened alveolar ridges NOT_TRANSLATED -HP:0000188 Decreased height of upper lip NOT_TRANSLATED -HP:0000188 Decreased upper labial height NOT_TRANSLATED -HP:0000188 Decreased upper labial length NOT_TRANSLATED -HP:0000188 Decreased vertical length of upper lip NOT_TRANSLATED -HP:0000188 Shortening of upper lip NOT_TRANSLATED -HP:0000188 Vertical deficiency of upper lip NOT_TRANSLATED -HP:0000189 Decreased palatal width NOT_TRANSLATED -HP:0000189 Decreased transverse dimension of palate NOT_TRANSLATED -HP:0000189 Narrow roof of mouth NOT_TRANSLATED -HP:0032957 Acanthocyturia NOT_TRANSLATED -HP:0000190 Abnormality of frenum of tongue NOT_TRANSLATED -HP:0000190 Abnormality of lingual frenum NOT_TRANSLATED -HP:0000190 Abnormality of oral frenula NOT_TRANSLATED -HP:0000190 Abnormality of oral frenum NOT_TRANSLATED -HP:0000191 Accessory oral frenum NOT_TRANSLATED -HP:0000191 Extra oral frenulum NOT_TRANSLATED -HP:0000191 Extra oral frenum NOT_TRANSLATED -HP:0000191 Multiple oral frenula NOT_TRANSLATED -HP:0000191 Supernumerary oral frenulum NOT_TRANSLATED -HP:0000191 Supernumerary oral frenum NOT_TRANSLATED -HP:0000193 Bifid palatine uvula NOT_TRANSLATED -HP:0000193 Cleft of uvula NOT_TRANSLATED -HP:0000193 Cleft uvula NOT_TRANSLATED -HP:0000193 Forked uvula NOT_TRANSLATED -HP:0000193 Split uvula NOT_TRANSLATED -HP:0000193 Uvula bifida NOT_TRANSLATED -HP:0032961 Struvite urinary crystals NOT_TRANSLATED -HP:0000194 Gaped jawed appearance NOT_TRANSLATED -HP:0000194 Gaped mouthed appearance NOT_TRANSLATED -HP:0000194 Open mouth appearance NOT_TRANSLATED -HP:0000194 Slack jawed appearance NOT_TRANSLATED -HP:0000197 Abnormality of parotid gland NOT_TRANSLATED -HP:0000197 Anomaly of the parotid gland NOT_TRANSLATED -HP:0000198 Absence of parotid duct NOT_TRANSLATED -HP:0000198 Absent stensen duct NOT_TRANSLATED -HP:0000198 Agenesis of parotid duct NOT_TRANSLATED -HP:0000198 Agenesis of stensen duct NOT_TRANSLATED -HP:0000198 Failure of development of parotid duct NOT_TRANSLATED -HP:0000198 Failure of development of stensen duct NOT_TRANSLATED -HP:0000198 Missing parotid duct NOT_TRANSLATED -HP:0000198 Missing stensen duct NOT_TRANSLATED -HP:0032966 Centriacinar emphysema NOT_TRANSLATED -HP:0000199 Lingual nodules NOT_TRANSLATED -HP:0000200 Deficiency of lingual frenulum NOT_TRANSLATED -HP:0000200 Hypoplasia of lingual frenulum NOT_TRANSLATED -HP:0000200 Hypoplasia of lingual frenum NOT_TRANSLATED -HP:0000200 Hypoplasia of tongue frenulum NOT_TRANSLATED -HP:0000200 Hypoplasia of tongue frenum NOT_TRANSLATED -HP:0000200 Short lingual frenum NOT_TRANSLATED -HP:0000200 Short tongue frenulum NOT_TRANSLATED -HP:0000200 Short tongue frenum NOT_TRANSLATED -HP:0000200 Tight lingual frenulum NOT_TRANSLATED -HP:0000201 Pierre Robin sequence NOT_TRANSLATED -HP:0000201 Pierre-robin anomaly NOT_TRANSLATED -HP:0000201 Pierre-robin deformity NOT_TRANSLATED -HP:0000201 Pierre-robin malformation NOT_TRANSLATED -HP:0000201 Robin sequence NOT_TRANSLATED -HP:0000202 Cleft lip, cleft palate NOT_TRANSLATED -HP:0000202 Cleft lip/palate NOT_TRANSLATED -HP:0000202 Cleft of the mouth NOT_TRANSLATED -HP:0000202 Oral clefting NOT_TRANSLATED -HP:0032971 CT halo sign NOT_TRANSLATED -HP:0000204 Cheiloschisis of upper lip NOT_TRANSLATED -HP:0000204 Cleft of upper lip NOT_TRANSLATED -HP:0000204 Harelip NOT_TRANSLATED -HP:0000205 Tightly closed lips NOT_TRANSLATED -HP:0000206 Inflammation of the tongue NOT_TRANSLATED -HP:0000206 Lingual inflammation NOT_TRANSLATED -HP:0000206 Smooth swollen tongue NOT_TRANSLATED -HP:0032974 Abnormal cell differential of broncho-alveolar fluid NOT_TRANSLATED -HP:0000207 Triangular shaped mouth NOT_TRANSLATED -HP:0000207 Triangular shaped oral aperture NOT_TRANSLATED -HP:0032975 Abnormal biochemical composition of broncho-alveolar fluid NOT_TRANSLATED -HP:0032975 Abnormal level of proteins in the broncho-alveolar fluid NOT_TRANSLATED -HP:0032977 Elevated level of neutrophils in broncho-alveolar lavage fluid NOT_TRANSLATED -HP:0000211 Decrease in jaw mobility NOT_TRANSLATED -HP:0000211 Decrease in jaw movement NOT_TRANSLATED -HP:0000211 Decrease in jaw opening NOT_TRANSLATED -HP:0000211 Decrease in mandibular mobility NOT_TRANSLATED -HP:0000211 Decrease in mandibular movement NOT_TRANSLATED -HP:0000211 Decrease in mandibular opening NOT_TRANSLATED -HP:0000211 Limited jaw mobility NOT_TRANSLATED -HP:0000211 Limited jaw movement NOT_TRANSLATED -HP:0000211 Limited jaw opening NOT_TRANSLATED -HP:0000211 Limited mandibular mobility NOT_TRANSLATED -HP:0000211 Limited mandibular opening NOT_TRANSLATED -HP:0000211 Limited mouth opening NOT_TRANSLATED -HP:0000211 Lockjaw NOT_TRANSLATED -HP:0000211 Pain of muscles of mastication NOT_TRANSLATED -HP:0032979 Accumulation of hemosiderin laden alveolar macrophages NOT_TRANSLATED -HP:0032979 Siderophages in bronchoalveolar fluid NOT_TRANSLATED -HP:0000212 Gingival enlargement NOT_TRANSLATED -HP:0000212 Gingival hyperplasia NOT_TRANSLATED -HP:0000212 Gum enlargement NOT_TRANSLATED -HP:0000212 Gum hypertrophy NOT_TRANSLATED -HP:0000212 Hypertrophic gingivitis NOT_TRANSLATED -HP:0000212 Oral soft tissue hyperplasia NOT_TRANSLATED -HP:0000214 Angioectasias of the lip NOT_TRANSLATED -HP:0000214 Labial angioectasias NOT_TRANSLATED -HP:0000214 Labial telangiectasia NOT_TRANSLATED -HP:0000214 Lip telangiectases NOT_TRANSLATED -HP:0000214 Spider veins of the lip NOT_TRANSLATED -HP:0000214 Telangiectasia of the lips NOT_TRANSLATED -HP:0000215 Full upper lip NOT_TRANSLATED -HP:0000215 Full upper lip vermilion NOT_TRANSLATED -HP:0000215 Increased height of upper lip vermilion NOT_TRANSLATED -HP:0000215 Increased volume of upper lip NOT_TRANSLATED -HP:0000215 Increased volume of upper lip vermilion NOT_TRANSLATED -HP:0000215 Plump upper lip NOT_TRANSLATED -HP:0000215 Prominent upper lip NOT_TRANSLATED -HP:0000215 Prominent upper lip vermilion NOT_TRANSLATED -HP:0000215 Thick red part of the upper lip NOT_TRANSLATED -HP:0000215 Thick upper lip NOT_TRANSLATED -HP:0000215 Thick vermilion border of upper lip NOT_TRANSLATED -HP:0032983 Reversed halo sign NOT_TRANSLATED -HP:0000216 Secondary alveolar ridges NOT_TRANSLATED -HP:0000217 Decreased salivary flow NOT_TRANSLATED -HP:0000217 Dry mouth NOT_TRANSLATED -HP:0000217 Dry mouth syndrome NOT_TRANSLATED -HP:0000217 Reduced salivation NOT_TRANSLATED -HP:0000218 Elevated palate NOT_TRANSLATED -HP:0000218 High arched palate NOT_TRANSLATED -HP:0000218 High, arched palate NOT_TRANSLATED -HP:0000218 High-arched palate NOT_TRANSLATED -HP:0000218 Increased palatal height NOT_TRANSLATED -HP:0000218 Ogival palate NOT_TRANSLATED -HP:0000218 Palate high-arched NOT_TRANSLATED -HP:0000218 Palate, high-arched NOT_TRANSLATED -HP:0000219 Decreased height of upper lip vermilion NOT_TRANSLATED -HP:0000219 Decreased volume of upper lip NOT_TRANSLATED -HP:0000219 Decreased volume of upper lip vermilion NOT_TRANSLATED -HP:0000219 Thin red part of the upper lip NOT_TRANSLATED -HP:0000219 Thin upper lip NOT_TRANSLATED -HP:0000219 Thin upper lips NOT_TRANSLATED -HP:0000219 Thin vermilion border of upper lip NOT_TRANSLATED -HP:0000220 Velopharyngeal dysfunction NOT_TRANSLATED -HP:0000220 Velopharyngeal incompetence NOT_TRANSLATED -HP:0032988 Head lag NOT_TRANSLATED -HP:0032988 Headlag NOT_TRANSLATED -HP:0000221 Fissured tongue NOT_TRANSLATED -HP:0000221 Grooved tongue NOT_TRANSLATED -HP:0000221 Lingua plicata NOT_TRANSLATED -HP:0000221 Lingual furrow NOT_TRANSLATED -HP:0000221 Plicated tongue NOT_TRANSLATED -HP:0000221 Prominent tongue grooves NOT_TRANSLATED -HP:0000221 Scrotal tongue NOT_TRANSLATED -HP:0000222 Hyperkeratosis, gingival NOT_TRANSLATED -HP:0032990 Localised pulmonary haemorrhage NOT_TRANSLATED -HP:0000224 Decreased taste NOT_TRANSLATED -HP:0000224 Decreased taste sensation NOT_TRANSLATED -HP:0000225 Bleeding gums NOT_TRANSLATED -HP:0000225 Gingival haemorrhage NOT_TRANSLATED -HP:0000225 Gingival hemorrhage NOT_TRANSLATED -HP:0000225 Gingivorrhagia NOT_TRANSLATED -HP:0032994 increased pulmonary fissure count NOT_TRANSLATED -HP:0000227 Angioectasias of the tongue NOT_TRANSLATED -HP:0000227 Lingual angioectasias NOT_TRANSLATED -HP:0000227 Lingual telangiectasia NOT_TRANSLATED -HP:0000227 Spider veins of the tongue NOT_TRANSLATED -HP:0032995 Reduced pulmonary fissure count NOT_TRANSLATED -HP:0000228 Angioectasias of the mouth NOT_TRANSLATED -HP:0000228 Angioectasias of the oral cavity NOT_TRANSLATED -HP:0000228 Oral cavity teleangiectasia NOT_TRANSLATED -HP:0000228 Spider veins of the mouth NOT_TRANSLATED -HP:0000228 Spider veins of the oral cavity NOT_TRANSLATED -HP:0000230 Gingival inflammation NOT_TRANSLATED -HP:0000230 Inflamed gums NOT_TRANSLATED -HP:0000230 Red and swollen gums NOT_TRANSLATED -HP:0032999 Increased faecal porphyrin NOT_TRANSLATED -HP:0000232 Drooping lower lip NOT_TRANSLATED -HP:0000232 Eclabium of lower lip NOT_TRANSLATED -HP:0000232 Everted lower lip NOT_TRANSLATED -HP:0000232 Everted prominent lower lip NOT_TRANSLATED -HP:0000232 Outward turned lower lip NOT_TRANSLATED -HP:0000232 Protruding lower lip NOT_TRANSLATED -HP:0033000 Croup NOT_TRANSLATED -HP:0033000 Laryngitis NOT_TRANSLATED -HP:0033000 Pseudocroup NOT_TRANSLATED -HP:0033000 Spasmodic croup NOT_TRANSLATED -HP:0033000 Viral croup NOT_TRANSLATED -HP:0000233 Decreased volume of lip NOT_TRANSLATED -HP:0000233 Decreased volume of lip vermillion NOT_TRANSLATED -HP:0000233 Thin lips NOT_TRANSLATED -HP:0000233 Thin vermilion borders NOT_TRANSLATED -HP:0000233 Thin vermillion NOT_TRANSLATED -HP:0033001 Laryngeal papillomas NOT_TRANSLATED -HP:0033001 Laryngeal papillomatosis NOT_TRANSLATED -HP:0000234 Abnormal head NOT_TRANSLATED -HP:0000234 Head abnormality NOT_TRANSLATED -HP:0000236 Abnormality of the forehead soft spot NOT_TRANSLATED -HP:0000237 Small anterior fontanel NOT_TRANSLATED -HP:0000237 Small forehead fontanel NOT_TRANSLATED -HP:0000238 Hydrocefalie CANDIDATE -HP:0000238 Niet syndromale hydrocefalus CANDIDATE -HP:0000239 Enlarged fontanelles NOT_TRANSLATED -HP:0000239 Large bregma sutures NOT_TRANSLATED -HP:0000239 Large fontanel NOT_TRANSLATED -HP:0000239 Large fontanelle NOT_TRANSLATED -HP:0000239 Large fontanels NOT_TRANSLATED -HP:0000239 Large, late-closing fontanelle NOT_TRANSLATED -HP:0000239 Persistent wide fontanel NOT_TRANSLATED -HP:0000239 Wide bregma sutures NOT_TRANSLATED -HP:0000239 Wide fontanelles NOT_TRANSLATED -HP:0000240 Abnormality of cranium size NOT_TRANSLATED -HP:0000240 Abnormality of head size NOT_TRANSLATED -HP:0033008 Increased Z-disk width NOT_TRANSLATED -HP:0033008 Widened z-discs NOT_TRANSLATED -HP:0033009 Elevated faecal coproporphyrin 1 NOT_TRANSLATED -HP:0033009 Elevated fecal coproporphyrin 1 NOT_TRANSLATED -HP:0033009 Elevated stool coproporphyrin 1 NOT_TRANSLATED -HP:0033009 High faecal coproporphyrin 1 NOT_TRANSLATED -HP:0033009 High fecal coproporphyrin 1 NOT_TRANSLATED -HP:0033009 High stool coproporphyrin 1 NOT_TRANSLATED -HP:0033009 Increased faecal coproporphyrin 1 NOT_TRANSLATED -HP:0000242 Biparietal bossing NOT_TRANSLATED -HP:0000242 Bossing of parietal bone NOT_TRANSLATED -HP:0033010 Elevated faecal coproporphyrin 3 NOT_TRANSLATED -HP:0033010 Elevated fecal coproporphyrin 3 NOT_TRANSLATED -HP:0033010 Elevated stool coproporphyrin 3 NOT_TRANSLATED -HP:0033010 High faecal coproporphyrin 3 NOT_TRANSLATED -HP:0033010 High fecal coproporphyrin 3 NOT_TRANSLATED -HP:0033010 High stool coproporphyrin 3 NOT_TRANSLATED -HP:0033010 Increased faecal coproporphyrin 3 NOT_TRANSLATED -HP:0000243 Triangular cranium shape NOT_TRANSLATED -HP:0000243 Triangular head shape NOT_TRANSLATED -HP:0000243 Triangular skull shape NOT_TRANSLATED -HP:0000243 Wedge shaped cranium NOT_TRANSLATED -HP:0000243 Wedge shaped head NOT_TRANSLATED -HP:0000243 Wedge shaped skull NOT_TRANSLATED -HP:0000244 Brachy-turricephaly NOT_TRANSLATED -HP:0000244 High, prominent forehead NOT_TRANSLATED -HP:0000244 Turribrachycephaly NOT_TRANSLATED -HP:0000245 Abnormality of the paranasal sinuses NOT_TRANSLATED -HP:0000245 Abnormality of the sinuses NOT_TRANSLATED -HP:0000245 Abnormality of the sinuses of the head NOT_TRANSLATED -HP:0000246 Sinus disease NOT_TRANSLATED -HP:0000246 Sinus infection NOT_TRANSLATED -HP:0000246 Sinus inflammation NOT_TRANSLATED -HP:0000248 Broad cranium shape NOT_TRANSLATED -HP:0000248 Broad head shape NOT_TRANSLATED -HP:0000248 Broad skull shape NOT_TRANSLATED -HP:0000248 Short and broad skull NOT_TRANSLATED -HP:0000248 Wide cranium shape NOT_TRANSLATED -HP:0000248 Wide head shape NOT_TRANSLATED -HP:0000248 Wide skull shape NOT_TRANSLATED -HP:0033016 Chronic decreased IgM in blood NOT_TRANSLATED -HP:0033017 Transient decreaseed IgD in blood NOT_TRANSLATED -HP:0000250 Dense skull cap NOT_TRANSLATED -HP:0033018 Chronic (near) absent IgM in blood NOT_TRANSLATED -HP:0000252 Abnormally small cranium NOT_TRANSLATED -HP:0000252 Abnormally small head NOT_TRANSLATED -HP:0000252 Abnormally small skull NOT_TRANSLATED -HP:0000252 Decreased circumference of cranium NOT_TRANSLATED -HP:0000252 Decreased size of cranium NOT_TRANSLATED -HP:0000252 Decreased size of head NOT_TRANSLATED -HP:0000252 Decreased size of skull NOT_TRANSLATED -HP:0000252 Reduced head circumference NOT_TRANSLATED -HP:0000252 small calvarium NOT_TRANSLATED -HP:0000252 small cranium NOT_TRANSLATED -HP:0000252 Small head NOT_TRANSLATED -HP:0000252 Small head circumference NOT_TRANSLATED -HP:0000252 Small skull NOT_TRANSLATED -HP:0000253 Microcefalie, postnataal, progressief CANDIDATE -HP:0000253 Microcefalie, progressief CANDIDATE -HP:0000253 Progressief afwijkende kleine cranium CANDIDATE -HP:0000253 Progressieve afwijkende kleine schedel CANDIDATE -HP:0033021 Transient decreased IgE in blood NOT_TRANSLATED -HP:0033022 Chronic decreased IgE in blood NOT_TRANSLATED -HP:0033023 Chronic (near) absent IgE in blood NOT_TRANSLATED -HP:0000256 Big calvaria NOT_TRANSLATED -HP:0000256 Big cranium NOT_TRANSLATED -HP:0000256 Big head NOT_TRANSLATED -HP:0000256 Big skull NOT_TRANSLATED -HP:0000256 Increased size of cranium NOT_TRANSLATED -HP:0000256 Increased size of head NOT_TRANSLATED -HP:0000256 Increased size of skull NOT_TRANSLATED -HP:0000256 Large calvaria NOT_TRANSLATED -HP:0000256 Large cranium NOT_TRANSLATED -HP:0000256 Large head NOT_TRANSLATED -HP:0000256 Large head circumference NOT_TRANSLATED -HP:0000256 Large skull NOT_TRANSLATED -HP:0000256 Macrocephalus NOT_TRANSLATED -HP:0000256 Macrocrania NOT_TRANSLATED -HP:0000256 Megacephaly NOT_TRANSLATED -HP:0033025 Chronic (near) absent total IgG in blood NOT_TRANSLATED -HP:0000260 Large anterior fontanel NOT_TRANSLATED -HP:0000260 Large anterior fontanelle NOT_TRANSLATED -HP:0000260 Large anterior fontanels NOT_TRANSLATED -HP:0000260 Large open anterior fontanel NOT_TRANSLATED -HP:0000260 Large open anterior fontanelle NOT_TRANSLATED -HP:0000260 Wide anterior fontanelle NOT_TRANSLATED -HP:0000260 Wide open anterior fontanelle NOT_TRANSLATED -HP:0000260 Wider-than-typical soft spot of skull NOT_TRANSLATED -HP:0033028 Anti-RNP-antibodies NOT_TRANSLATED -HP:0033028 Anti-Scl-34 antibody positivity NOT_TRANSLATED -HP:0033028 Anti-U1-RNP antibody positivity NOT_TRANSLATED -HP:0033028 Anti-U3 ribonucleoprotein antibody positivity NOT_TRANSLATED -HP:0000262 Tall shaped cranium NOT_TRANSLATED -HP:0000262 Tall shaped head NOT_TRANSLATED -HP:0000262 Tall shaped skull NOT_TRANSLATED -HP:0000262 Tower cranium shape NOT_TRANSLATED -HP:0000262 Tower skull shape NOT_TRANSLATED -HP:0000262 Turricephalus NOT_TRANSLATED -HP:0033030 Anti-GBM-antibody positivity NOT_TRANSLATED -HP:0000263 Acrocefalie CANDIDATE -HP:0000264 Abnormality of mastoid process of temporal bone NOT_TRANSLATED -HP:0000264 Abnormality of the mastoid NOT_TRANSLATED -HP:0033032 Munchausen syndrome by proxy NOT_TRANSLATED -HP:0033033 Increased level of anti-melanoma differentiation-associated protein 5 antibodies NOT_TRANSLATED -HP:0000267 Abnormality of cranial vault shape NOT_TRANSLATED -HP:0000267 Abnormality of cranium shape NOT_TRANSLATED -HP:0000267 Abnormality of head shape NOT_TRANSLATED -HP:0000267 Asymmetry of cranium NOT_TRANSLATED -HP:0000267 Asymmetry of head NOT_TRANSLATED -HP:0000267 Cranial vault asymmetry NOT_TRANSLATED -HP:0000267 Malformation of cranial vault shape NOT_TRANSLATED -HP:0000267 Malformation of cranium shape NOT_TRANSLATED -HP:0000267 Malformation of head shape NOT_TRANSLATED -HP:0000267 Uneven head shape NOT_TRANSLATED -HP:0033035 Abnormal neurilemmal cell morphology NOT_TRANSLATED -HP:0033035 Abnormal neurilemmocyte morphology NOT_TRANSLATED -HP:0000268 Large dolichocephalic skull NOT_TRANSLATED -HP:0000268 Long, narrow head NOT_TRANSLATED -HP:0000268 Narrow cranium shape NOT_TRANSLATED -HP:0000268 Narrow head shape NOT_TRANSLATED -HP:0000268 Narrow skull shape NOT_TRANSLATED -HP:0000268 Tall and narrow skull NOT_TRANSLATED -HP:0000268 Turridolichocephaly NOT_TRANSLATED -HP:0033036 Low nasal nitric oxide level NOT_TRANSLATED -HP:0000269 Prominent back of the head NOT_TRANSLATED -HP:0000269 Prominent back of the skull NOT_TRANSLATED -HP:0000269 Prominent posterior cranium NOT_TRANSLATED -HP:0000269 Prominent posterior head NOT_TRANSLATED -HP:0000269 Prominent posterior skull NOT_TRANSLATED -HP:0000269 Protruding back of the head NOT_TRANSLATED -HP:0000269 Protruding occiput NOT_TRANSLATED -HP:0033037 Migratory polyarthritis NOT_TRANSLATED -HP:0000270 Broad late closing cranial sutures NOT_TRANSLATED -HP:0000270 Delayed closure of fontanel NOT_TRANSLATED -HP:0000270 Delayed closure of fontanelles NOT_TRANSLATED -HP:0000270 Delayed closure of fontanels NOT_TRANSLATED -HP:0000270 Delayed closure of the fontanelles NOT_TRANSLATED -HP:0000270 Delayed fontanel closure NOT_TRANSLATED -HP:0000270 Delayed fontanelle closure NOT_TRANSLATED -HP:0000270 Late closing fontanelles NOT_TRANSLATED -HP:0000270 Late closure of fontanelle NOT_TRANSLATED -HP:0000270 Late-closing fontanelle NOT_TRANSLATED -HP:0000270 Open sutures NOT_TRANSLATED -HP:0000271 Abnormal face NOT_TRANSLATED -HP:0000271 Abnormality of the countenance NOT_TRANSLATED -HP:0000271 Abnormality of the physiognomy NOT_TRANSLATED -HP:0000271 Abnormality of the visage NOT_TRANSLATED -HP:0000271 Anomaly of face NOT_TRANSLATED -HP:0000271 Anomaly of the face NOT_TRANSLATED -HP:0000271 Disorder of face NOT_TRANSLATED -HP:0000271 Disorder of the face NOT_TRANSLATED -HP:0000271 Facial abnormality NOT_TRANSLATED -HP:0000271 Facial anomaly NOT_TRANSLATED -HP:0033039 Increased level of antigen-precipitating IgG antibodies NOT_TRANSLATED -HP:0000272 Decreased size of malar bone NOT_TRANSLATED -HP:0000272 Depressed malar region NOT_TRANSLATED -HP:0000272 Flat cheekbone NOT_TRANSLATED -HP:0000272 Hypotrophic malar bone NOT_TRANSLATED -HP:0000272 Malar hypoplasia NOT_TRANSLATED -HP:0000272 Underdevelopment of malar bone NOT_TRANSLATED -HP:0000272 Zygomatic flattening NOT_TRANSLATED -HP:0033040 Anti-Smith autoantibody NOT_TRANSLATED -HP:0033041 Hypercytokinemia NOT_TRANSLATED -HP:0000274 Facial hypoplasia NOT_TRANSLATED -HP:0000274 Hypoplasia of face NOT_TRANSLATED -HP:0000274 Microface NOT_TRANSLATED -HP:0000274 Microfacies NOT_TRANSLATED -HP:0000274 Short and narrow face NOT_TRANSLATED -HP:0000274 Small facies NOT_TRANSLATED -HP:0000275 Decreased breadth of face NOT_TRANSLATED -HP:0000275 Decreased horizontal dimension of face NOT_TRANSLATED -HP:0000275 Decreased transverse dimension of face NOT_TRANSLATED -HP:0000275 Decreased width of face NOT_TRANSLATED -HP:0000275 Horizontal deficiency of face NOT_TRANSLATED -HP:0000275 Horizontal hypoplasia of face NOT_TRANSLATED -HP:0000275 Horizontal insufficiency of face NOT_TRANSLATED -HP:0000275 Narrow facies NOT_TRANSLATED -HP:0000275 Thin face NOT_TRANSLATED -HP:0000275 Thin facies NOT_TRANSLATED -HP:0000275 Transverse deficiency of face NOT_TRANSLATED -HP:0000275 Transverse hypoplasia of face NOT_TRANSLATED -HP:0000275 Transverse insufficiency of face NOT_TRANSLATED -HP:0000276 Elongation of face NOT_TRANSLATED -HP:0000276 Increased height of face NOT_TRANSLATED -HP:0000276 Increased length of face NOT_TRANSLATED -HP:0000276 Increased vertical dimension of face NOT_TRANSLATED -HP:0000276 Long facies NOT_TRANSLATED -HP:0000276 Vertical elongation of face NOT_TRANSLATED -HP:0000276 Vertical enlargement of face NOT_TRANSLATED -HP:0000276 Vertical excess of face NOT_TRANSLATED -HP:0000276 Vertical Facial Excess NOT_TRANSLATED -HP:0000276 Vertical hyperplasia of face NOT_TRANSLATED -HP:0000276 Vertical overgrowth of face NOT_TRANSLATED -HP:0033044 Regression of motor skills NOT_TRANSLATED -HP:0000277 Abnormality of the lower jaw bone NOT_TRANSLATED -HP:0000277 Abnormality of the mandible NOT_TRANSLATED -HP:0000277 Anomaly of the mandible NOT_TRANSLATED -HP:0000277 Deformity of the lower jaw bone NOT_TRANSLATED -HP:0000277 Deformity of the mandible NOT_TRANSLATED -HP:0000277 Malformation of the lower jaw bone NOT_TRANSLATED -HP:0000277 Malformation of the mandible NOT_TRANSLATED -HP:0033045 Bipedal oedema NOT_TRANSLATED -HP:0000278 Lower jaw retrognathia NOT_TRANSLATED -HP:0000278 Receding chin NOT_TRANSLATED -HP:0000278 Receding lower jaw NOT_TRANSLATED -HP:0000278 Receding mandible NOT_TRANSLATED -HP:0000278 Retrogenia NOT_TRANSLATED -HP:0000278 Retrognathia of lower jaw NOT_TRANSLATED -HP:0000278 Weak chin NOT_TRANSLATED -HP:0000278 Weak jaw NOT_TRANSLATED -HP:0033046 Malakoplakia NOT_TRANSLATED -HP:0000280 Coarse face NOT_TRANSLATED -HP:0000280 Coarse facial appearance NOT_TRANSLATED -HP:0000280 Coarse facies NOT_TRANSLATED -HP:0000280 Rounded and heavy facial features NOT_TRANSLATED -HP:0000280 Thickened facial skin with coarse facial features NOT_TRANSLATED -HP:0033048 Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI) NOT_TRANSLATED -HP:0000282 Facial oedema NOT_TRANSLATED -HP:0000282 Facial puffiness NOT_TRANSLATED -HP:0000282 Facial swelling NOT_TRANSLATED -HP:0033050 Pharyngodynia NOT_TRANSLATED -HP:0033050 Sore throat NOT_TRANSLATED -HP:0033050 Throat discomfort NOT_TRANSLATED -HP:0033050 Throat pain NOT_TRANSLATED -HP:0000283 Broad facies NOT_TRANSLATED -HP:0000283 Horizontal excess of face NOT_TRANSLATED -HP:0000283 Horizontal hyperplasia of face NOT_TRANSLATED -HP:0000283 Increased breadth of face NOT_TRANSLATED -HP:0000283 Increased horizontal dimension of face NOT_TRANSLATED -HP:0000283 Increased transverse dimension of face NOT_TRANSLATED -HP:0000283 Increased width of face NOT_TRANSLATED -HP:0000283 Transverse excess of face NOT_TRANSLATED -HP:0000283 Transverse hyperplasia of face NOT_TRANSLATED -HP:0000283 Wide face NOT_TRANSLATED -HP:0000283 Wide facies NOT_TRANSLATED -HP:0000286 Epicanthal fold NOT_TRANSLATED -HP:0000286 Epicanthal folds NOT_TRANSLATED -HP:0000286 Epicanthic folds NOT_TRANSLATED -HP:0000286 Eye folds NOT_TRANSLATED -HP:0000286 Palpebronasal fold NOT_TRANSLATED -HP:0000286 Plica palpebronasalis NOT_TRANSLATED -HP:0000286 Prominent eye folds NOT_TRANSLATED -HP:0000287 Facial fat hyperplasia NOT_TRANSLATED -HP:0000287 Facial fat hypertrophy NOT_TRANSLATED -HP:0000287 Hyperplasia of facial adipose tissue NOT_TRANSLATED -HP:0000287 Hypertrophy of facial adipose tissue NOT_TRANSLATED -HP:0000287 Increased amount of facial adipose tissue NOT_TRANSLATED -HP:0000287 Increased amount of facial fat NOT_TRANSLATED -HP:0000287 Increased volume of facial adipose tissue NOT_TRANSLATED -HP:0033055 Ineffective planning NOT_TRANSLATED -HP:0000288 Abnormal philtrum NOT_TRANSLATED -HP:0000288 Abnormality of the infranasal depression NOT_TRANSLATED -HP:0000288 Abnormality of the paralabial region NOT_TRANSLATED -HP:0033056 Impaired ability to organise NOT_TRANSLATED -HP:0000289 Increased breadth of philtrum NOT_TRANSLATED -HP:0000289 Increased horizontal dimension of philtrum NOT_TRANSLATED -HP:0000289 Increased transverse dimension of philtrum NOT_TRANSLATED -HP:0000289 Increased width of philtrum NOT_TRANSLATED -HP:0000289 Wide philtrum NOT_TRANSLATED -HP:0000290 Abnormality of the frontal region of the face NOT_TRANSLATED -HP:0000290 Anomaly of the forehead NOT_TRANSLATED -HP:0000290 Deformity of the forehead NOT_TRANSLATED -HP:0000290 Malformation of the forehead NOT_TRANSLATED -HP:0000291 Abnormality of facial fat NOT_TRANSLATED -HP:0000291 Deformity of facial adipose tissue NOT_TRANSLATED -HP:0000291 Malformation of facial adipose tissue NOT_TRANSLATED -HP:0000292 Decreased amount of facial adipose tissue NOT_TRANSLATED -HP:0000292 Decreased amount of facial fat NOT_TRANSLATED -HP:0000292 Decreased volume of facial adipose tissue NOT_TRANSLATED -HP:0000292 Loss of facial fat NOT_TRANSLATED -HP:0000292 Loss of facial subcutaneous adipose tissue NOT_TRANSLATED -HP:0000292 Loss of subcutaneous adipose tissue from face NOT_TRANSLATED -HP:0000293 Apple cheeks NOT_TRANSLATED -HP:0000293 Big cheeks NOT_TRANSLATED -HP:0000293 Chubby cheeks NOT_TRANSLATED -HP:0000293 Hyperplasia of cheeks NOT_TRANSLATED -HP:0000293 Hypertrophy of cheeks NOT_TRANSLATED -HP:0000293 Increased size of cheeks NOT_TRANSLATED -HP:0000293 Large cheeks NOT_TRANSLATED -HP:0000293 Puffy cheeks NOT_TRANSLATED -HP:0000294 Low frontal hairline NOT_TRANSLATED -HP:0000294 Low-set frontal hairline NOT_TRANSLATED -HP:0000295 Popachtig gelaat voorkomen CANDIDATE -HP:0033063 Short sleep NOT_TRANSLATED -HP:0000297 Atony of facial musculature NOT_TRANSLATED -HP:0000297 Decreased facial muscle tone NOT_TRANSLATED -HP:0000297 Hypotonic facies NOT_TRANSLATED -HP:0000297 Low facial muscle tone NOT_TRANSLATED -HP:0000297 Reduced facial muscle tone NOT_TRANSLATED -HP:0000298 Amimia NOT_TRANSLATED -HP:0000298 Expressionless face NOT_TRANSLATED -HP:0000298 Lack of facial expression NOT_TRANSLATED -HP:0000298 Mask-like facial appearance NOT_TRANSLATED -HP:0000298 Masklike facies NOT_TRANSLATED -HP:0033066 Heavy albuminuria NOT_TRANSLATED -HP:0000300 Oval facial shape NOT_TRANSLATED -HP:0000300 Oval facies NOT_TRANSLATED -HP:0000301 Abnormality of facial muscles NOT_TRANSLATED -HP:0000301 Facial muscle issue NOT_TRANSLATED -HP:0000303 Big lower jaw NOT_TRANSLATED -HP:0000303 Big mandible NOT_TRANSLATED -HP:0000303 Enlarged mandible NOT_TRANSLATED -HP:0000303 Enlargement of mandible NOT_TRANSLATED -HP:0000303 Hyperplasia of lower jaw NOT_TRANSLATED -HP:0000303 Hypertrophy of lower jaw NOT_TRANSLATED -HP:0000303 Hypertrophy of mandible NOT_TRANSLATED -HP:0000303 Increased projection of lower jaw NOT_TRANSLATED -HP:0000303 Increased projection of mandible NOT_TRANSLATED -HP:0000303 Increased size of lower jaw NOT_TRANSLATED -HP:0000303 Increased size of mandible NOT_TRANSLATED -HP:0000303 Large lower jaw NOT_TRANSLATED -HP:0000303 Large mandible NOT_TRANSLATED -HP:0000303 Lower jaw excess NOT_TRANSLATED -HP:0000303 Lower jaw hyperplasia NOT_TRANSLATED -HP:0000303 Macromandible NOT_TRANSLATED -HP:0000303 Mandible prognathism NOT_TRANSLATED -HP:0000303 Mandibular excess NOT_TRANSLATED -HP:0000303 Mandibular hyperplasia NOT_TRANSLATED -HP:0000303 Mandibular macrognathia NOT_TRANSLATED -HP:0000303 Mandibular prognathism NOT_TRANSLATED -HP:0000303 Prognathia NOT_TRANSLATED -HP:0000303 Prognathism NOT_TRANSLATED -HP:0000303 Prominent chin NOT_TRANSLATED -HP:0000303 Prominent jaw NOT_TRANSLATED -HP:0000303 Prominent lower jaw NOT_TRANSLATED -HP:0000303 Prominent mandible NOT_TRANSLATED -HP:0000303 Relative mandibular prognathism NOT_TRANSLATED -HP:0033073 Urate tophi NOT_TRANSLATED -HP:0000306 Abnormality of the menton NOT_TRANSLATED -HP:0000306 Anomaly of the chin NOT_TRANSLATED -HP:0000306 Deformity of the chin NOT_TRANSLATED -HP:0000306 Malformation of the chin NOT_TRANSLATED -HP:0033074 Prednisone-responsive anaemia NOT_TRANSLATED -HP:0033074 Prednisone-responsive anemia NOT_TRANSLATED -HP:0033074 Steroid-responsive anaemia NOT_TRANSLATED -HP:0000307 Pointed mention region NOT_TRANSLATED -HP:0000307 Pointy chin NOT_TRANSLATED -HP:0000307 Small pointed chin NOT_TRANSLATED -HP:0000307 Witch's chin NOT_TRANSLATED -HP:0033075 Inappropriately normal TSH NOT_TRANSLATED -HP:0000308 Retromicrognatie CANDIDATE -HP:0033076 Abnormal circulating free T4 level NOT_TRANSLATED -HP:0033076 Abnormal circulating free thyroxine level NOT_TRANSLATED -HP:0000309 Abnormal morphology of the midface NOT_TRANSLATED -HP:0000309 Abnormality of the midface NOT_TRANSLATED -HP:0000309 Anomaly of the midface NOT_TRANSLATED -HP:0000309 Deformity of the midface NOT_TRANSLATED -HP:0000309 Malformation of the midface NOT_TRANSLATED -HP:0033077 Increased circulating free T4 level NOT_TRANSLATED -HP:0033078 Decreased circulating free T4 level NOT_TRANSLATED -HP:0000311 Circular face NOT_TRANSLATED -HP:0000311 Round facial appearance NOT_TRANSLATED -HP:0000311 Round facial shape NOT_TRANSLATED -HP:0000311 Round facies NOT_TRANSLATED -HP:0000311 Round, full face NOT_TRANSLATED -HP:0033080 Abnormal TSH response to TRH stimulation test NOT_TRANSLATED -HP:0000315 Abnormality of the eye region NOT_TRANSLATED -HP:0000315 Abnormality of the region around the eyes NOT_TRANSLATED -HP:0000315 Anomaly of the orbital region of the face NOT_TRANSLATED -HP:0000315 Deformity of the orbital region of the face NOT_TRANSLATED -HP:0000315 Malformation of the orbital region of the face NOT_TRANSLATED -HP:0000316 Excessive orbital separation NOT_TRANSLATED -HP:0000316 Increased distance between eye sockets NOT_TRANSLATED -HP:0000316 Increased distance between eyes NOT_TRANSLATED -HP:0000316 Increased interpupillary distance NOT_TRANSLATED -HP:0000316 Ocular hypertelorism NOT_TRANSLATED -HP:0000316 Wide-set eyes NOT_TRANSLATED -HP:0000316 Widely spaced eyes NOT_TRANSLATED -HP:0000316 Widened interpupillary distance NOT_TRANSLATED -HP:0000317 Involuntary facial contraction NOT_TRANSLATED -HP:0000317 Involuntary facial quivering NOT_TRANSLATED -HP:0000319 Decreased depth of philtrum NOT_TRANSLATED -HP:0000319 Flat philtrum NOT_TRANSLATED -HP:0000319 Indistinct philtrum NOT_TRANSLATED -HP:0000319 Philtrum, smooth NOT_TRANSLATED -HP:0000319 Shallow philtrum NOT_TRANSLATED -HP:0000319 Simple philtrum NOT_TRANSLATED -HP:0000320 Bird-like facial appearance NOT_TRANSLATED -HP:0033088 Increased valine in urine NOT_TRANSLATED -HP:0000321 Square facial shape NOT_TRANSLATED -HP:0000321 Square facies NOT_TRANSLATED -HP:0000322 Decreased height of philtrum NOT_TRANSLATED -HP:0000322 Decreased length of philtrum NOT_TRANSLATED -HP:0000322 Decreased vertical dimension of philtrum NOT_TRANSLATED -HP:0000322 Vertical hypoplasia of philtrum NOT_TRANSLATED -HP:0033091 Increased tyrosine in urine NOT_TRANSLATED -HP:0000324 Asymmetric facies NOT_TRANSLATED -HP:0000324 Asymmetry of face NOT_TRANSLATED -HP:0000324 Asymmetry of right and left side of face NOT_TRANSLATED -HP:0000324 Crooked face NOT_TRANSLATED -HP:0000324 Unbalanced face NOT_TRANSLATED -HP:0000324 Unequal sides of face NOT_TRANSLATED -HP:0000324 Uneven face NOT_TRANSLATED -HP:0000324 Uneven sides of face NOT_TRANSLATED -HP:0000324 Unsymmetrical face NOT_TRANSLATED -HP:0000325 Face with broad temples and narrow chin NOT_TRANSLATED -HP:0000325 Triangular facial shape NOT_TRANSLATED -HP:0000325 Triangular facies NOT_TRANSLATED -HP:0000326 Abnormality of the upper jaw bone NOT_TRANSLATED -HP:0000326 Abnormality of the upper jaw bones NOT_TRANSLATED -HP:0000326 Anomaly of the maxilla NOT_TRANSLATED -HP:0000326 Deformity of the maxilla NOT_TRANSLATED -HP:0000326 Deformity of the upper jaw bones NOT_TRANSLATED -HP:0000326 Malformation of the maxilla NOT_TRANSLATED -HP:0000326 Malformation of the upper jaw bones NOT_TRANSLATED -HP:0033094 Increased glutamic acid in urine NOT_TRANSLATED -HP:0000327 Decreased projection of maxilla NOT_TRANSLATED -HP:0000327 Decreased projection of upper jaw NOT_TRANSLATED -HP:0000327 Decreased size of maxilla NOT_TRANSLATED -HP:0000327 Decreased size of upper jaw NOT_TRANSLATED -HP:0000327 Deficiency of upper jaw bones NOT_TRANSLATED -HP:0000327 Hypoplasia of upper jaw bones NOT_TRANSLATED -HP:0000327 Hypoplastic maxillary bones NOT_TRANSLATED -HP:0000327 Hypotrophic maxilla NOT_TRANSLATED -HP:0000327 Hypotrophic upper jaw bones NOT_TRANSLATED -HP:0000327 Maxillary deficiency NOT_TRANSLATED -HP:0000327 Maxillary hypoplasia NOT_TRANSLATED -HP:0000327 Maxillary micrognathia NOT_TRANSLATED -HP:0000327 Maxillary retrognathia NOT_TRANSLATED -HP:0000327 Maxillary retrusion NOT_TRANSLATED -HP:0000327 Micromaxilla NOT_TRANSLATED -HP:0000327 Retrognathia of upper jaw NOT_TRANSLATED -HP:0000327 Retrusion of upper jaw bones NOT_TRANSLATED -HP:0000327 Small maxilla NOT_TRANSLATED -HP:0000327 Small upper jaw NOT_TRANSLATED -HP:0000327 Small upper jaw bones NOT_TRANSLATED -HP:0000327 Upper jaw deficiency NOT_TRANSLATED -HP:0000327 Upper jaw retrusion NOT_TRANSLATED -HP:0033095 Increased sulfur-containing amino acid level in urine NOT_TRANSLATED -HP:0033095 Increased sulphur amino acid level in urine NOT_TRANSLATED -HP:0000329 Facial hemangiomata NOT_TRANSLATED -HP:0033098 Elevated urinary non-proteinogenic amino acid level NOT_TRANSLATED -HP:0000331 Decreased height of chin NOT_TRANSLATED -HP:0000331 Short lower third of face NOT_TRANSLATED -HP:0000331 Small chin NOT_TRANSLATED -HP:0000331 Vertical deficiency of chin NOT_TRANSLATED -HP:0000331 Vertical hypoplasia of chin NOT_TRANSLATED -HP:0033102 Monkey wrench appearance of femoral neck NOT_TRANSLATED -HP:0033102 Monkey wrench configuration of the proximal femur NOT_TRANSLATED -HP:0033102 Swedish key appearance of femoral neck NOT_TRANSLATED -HP:0033102 Swedish key configuration of the proximal femur NOT_TRANSLATED -HP:0033103 Elevated circulating chitinase 3-like 1 level NOT_TRANSLATED -HP:0033103 Elevated circulating YKL40 level NOT_TRANSLATED -HP:0000336 Hyperplasia of supraorbital margins NOT_TRANSLATED -HP:0000336 Hyperplasia of supraorbital ridge NOT_TRANSLATED -HP:0000336 Hypertrophy of supraorbital margins NOT_TRANSLATED -HP:0000336 Hypertrophy of supraorbital ridge NOT_TRANSLATED -HP:0000336 Prominent brow NOT_TRANSLATED -HP:0000336 Prominent supraorbital margins NOT_TRANSLATED -HP:0000336 Prominent supraorbital ridge NOT_TRANSLATED -HP:0000336 Protruding supraorbital ridge NOT_TRANSLATED -HP:0000336 Supraorbital hyperostosis NOT_TRANSLATED -HP:0000337 Bitemporal widening NOT_TRANSLATED -HP:0000337 Increased bitemporal dimension NOT_TRANSLATED -HP:0000337 Increased bitemporal width NOT_TRANSLATED -HP:0000337 Increased width of the forehead NOT_TRANSLATED -HP:0000337 Intertemporal widening NOT_TRANSLATED -HP:0000337 Wide forehead NOT_TRANSLATED -HP:0033105 Hypothalamic adhesion NOT_TRANSLATED -HP:0000338 Decreased facial expressions NOT_TRANSLATED -HP:0000338 Decreased facial muscle movement NOT_TRANSLATED -HP:0000338 Dull facial expression NOT_TRANSLATED -HP:0000338 Hypomimia NOT_TRANSLATED -HP:0033106 Elevated D-dimers NOT_TRANSLATED -HP:0033106 Elevated fibrin degradation fragment concentration NOT_TRANSLATED -HP:0000339 Boxer-like facial appearance NOT_TRANSLATED -HP:0000339 Pugilistic facial appearance NOT_TRANSLATED -HP:0000340 Inclined forehead NOT_TRANSLATED -HP:0000340 Posteriorly sloping forehead NOT_TRANSLATED -HP:0000340 Receding forehead NOT_TRANSLATED -HP:0000341 Bitemporal narrowing NOT_TRANSLATED -HP:0000341 Bitemporal narrowness NOT_TRANSLATED -HP:0000341 Bitemporal skull narrowing NOT_TRANSLATED -HP:0000341 Decreased width of the forehead NOT_TRANSLATED -HP:0000341 Intertemporal narrowing NOT_TRANSLATED -HP:0000341 Narrow bitemporal diameter NOT_TRANSLATED -HP:0000341 Narrow bitemporal width NOT_TRANSLATED -HP:0000341 Temporal narrowness NOT_TRANSLATED -HP:0033110 Elevated circulating homoalanine concentration NOT_TRANSLATED -HP:0000343 Elongated philtrum NOT_TRANSLATED -HP:0000343 Increased height of philtrum NOT_TRANSLATED -HP:0000343 Increased length of philtrum NOT_TRANSLATED -HP:0000343 Increased vertical dimension of philtrum NOT_TRANSLATED -HP:0000343 Vertical hyperplasia of philtrum NOT_TRANSLATED -HP:0033111 Increased urine 3-hydroxyisovaleric acid level NOT_TRANSLATED -HP:0033112 Elevated APOC3 level NOT_TRANSLATED -HP:0033112 Elevated apolipoprotein C-III level NOT_TRANSLATED -HP:0033113 Triple rhythm NOT_TRANSLATED -HP:0000346 Whistling facial appearance NOT_TRANSLATED -HP:0000347 Decreased projection of lower jaw NOT_TRANSLATED -HP:0000347 Decreased projection of mandible NOT_TRANSLATED -HP:0000347 Decreased size of lower jaw NOT_TRANSLATED -HP:0000347 Decreased size of mandible NOT_TRANSLATED -HP:0000347 Deficiency of lower jaw NOT_TRANSLATED -HP:0000347 Hypoplasia of lower jaw NOT_TRANSLATED -HP:0000347 Hypoplasia of mandible NOT_TRANSLATED -HP:0000347 Hypoplastic mandible NOT_TRANSLATED -HP:0000347 Hypoplastic mandible condyle NOT_TRANSLATED -HP:0000347 Hypotrophic lower jaw NOT_TRANSLATED -HP:0000347 Hypotrophic mandible NOT_TRANSLATED -HP:0000347 Little lower jaw NOT_TRANSLATED -HP:0000347 Little mandible NOT_TRANSLATED -HP:0000347 Lower jaw deficiency NOT_TRANSLATED -HP:0000347 Lower jaw hypoplasia NOT_TRANSLATED -HP:0000347 Lower jaw retrusion NOT_TRANSLATED -HP:0000347 Mandibular deficiency NOT_TRANSLATED -HP:0000347 Mandibular hypoplasia NOT_TRANSLATED -HP:0000347 Mandibular micrognathia NOT_TRANSLATED -HP:0000347 Mandibular retrognathia NOT_TRANSLATED -HP:0000347 Mandibular retrusion NOT_TRANSLATED -HP:0000347 Micrognathia of lower jaw NOT_TRANSLATED -HP:0000347 Micromandible NOT_TRANSLATED -HP:0000347 Retrusion of lower jaw NOT_TRANSLATED -HP:0000347 Robin mandible NOT_TRANSLATED -HP:0000347 Severe hypoplasia of mandible NOT_TRANSLATED -HP:0000347 Small jaw NOT_TRANSLATED -HP:0000347 Small lower jaw NOT_TRANSLATED -HP:0000347 Small mandible NOT_TRANSLATED -HP:0000347 Underdevelopment of lower jaw NOT_TRANSLATED -HP:0000347 Underdevelopment of mandible NOT_TRANSLATED -HP:0000348 Tall forehead NOT_TRANSLATED -HP:0000349 Hairline peak NOT_TRANSLATED -HP:0000349 Hairline point NOT_TRANSLATED -HP:0000349 Pointed frontal hairline NOT_TRANSLATED -HP:0000349 Pointed hairline at front of head NOT_TRANSLATED -HP:0000349 V-shaped frontal hairline NOT_TRANSLATED -HP:0033117 Duodenal inflammation NOT_TRANSLATED -HP:0000350 Decreased size of forehead NOT_TRANSLATED -HP:0000350 Decreased size of frontal region of face NOT_TRANSLATED -HP:0000350 Hypoplasia of forehead NOT_TRANSLATED -HP:0000350 Hypotrophic forehead NOT_TRANSLATED -HP:0033120 Discoid eczema NOT_TRANSLATED -HP:0033120 Nummular dermatitis NOT_TRANSLATED -HP:0033121 Seal-like barking cough NOT_TRANSLATED -HP:0033122 Absence of P wave on electrocardiography NOT_TRANSLATED -HP:0000356 Abnormal pinnae NOT_TRANSLATED -HP:0000356 Abnormality of the auricle NOT_TRANSLATED -HP:0000356 Abnormality of the external ear NOT_TRANSLATED -HP:0000356 Ear anomalies NOT_TRANSLATED -HP:0000356 External ear malformations NOT_TRANSLATED -HP:0000356 Malformed pinnae NOT_TRANSLATED -HP:0000356 Outer ear abnormality NOT_TRANSLATED -HP:0000357 External ear position defect NOT_TRANSLATED -HP:0000358 Ear, posterior angulation, increased NOT_TRANSLATED -HP:0000358 Ears rotated toward back of head NOT_TRANSLATED -HP:0000358 Posteriorly angulated ears NOT_TRANSLATED -HP:0000358 Posteriorly rotated NOT_TRANSLATED -HP:0000358 Posteriorly rotated auricles NOT_TRANSLATED -HP:0000358 Posteriorly-angulated ears NOT_TRANSLATED -HP:0000358 Posteriorly-rotated ears NOT_TRANSLATED -HP:0033126 Skin necrosis NOT_TRANSLATED -HP:0000359 Inner ear abnormality NOT_TRANSLATED -HP:0000360 Ringing in ears NOT_TRANSLATED -HP:0000360 Ringing in the ears NOT_TRANSLATED -HP:0000363 Abnormal earlobe NOT_TRANSLATED -HP:0000363 Abnormal lobe of ear NOT_TRANSLATED -HP:0000363 Abnormality of auricular lobule NOT_TRANSLATED -HP:0000363 Abnormality of ear lobe NOT_TRANSLATED -HP:0000363 Abnormality of earlobe NOT_TRANSLATED -HP:0000363 Abnormality of lobulus auriculae NOT_TRANSLATED -HP:0033131 Increased renal medullary echogenicity NOT_TRANSLATED -HP:0000364 Abnormal hearing NOT_TRANSLATED -HP:0000365 Deafness NOT_TRANSLATED -HP:0000365 Hearing defect NOT_TRANSLATED -HP:0000365 Hearing loss NOT_TRANSLATED -HP:0000365 Hypacusis NOT_TRANSLATED -HP:0000365 Hypoacusis NOT_TRANSLATED -HP:0033133 Hypoechogenic renal cortex NOT_TRANSLATED -HP:0000366 Anomaly of the nose NOT_TRANSLATED -HP:0000366 Deformity of the nose NOT_TRANSLATED -HP:0000366 Malformation of the nose NOT_TRANSLATED -HP:0000366 Nasal abnormality NOT_TRANSLATED -HP:0000366 Nasal anomaly NOT_TRANSLATED -HP:0000366 Nasal deformity NOT_TRANSLATED -HP:0000366 Nasal malformation NOT_TRANSLATED -HP:0033134 Intra-abdominal adhesion NOT_TRANSLATED -HP:0000368 Low-set posteriorly rotated ears NOT_TRANSLATED -HP:0000369 Low set ears NOT_TRANSLATED -HP:0000369 Low-set pinnae NOT_TRANSLATED -HP:0000369 Lowset ears NOT_TRANSLATED -HP:0000369 Melotia NOT_TRANSLATED -HP:0000370 Middle ear abnormalities NOT_TRANSLATED -HP:0000370 Middle ear abnormality NOT_TRANSLATED -HP:0000371 Acute middle ear infection NOT_TRANSLATED -HP:0000372 Auditory canal abnormality NOT_TRANSLATED -HP:0000375 Abnormality of cochlea NOT_TRANSLATED -HP:0000376 Cochlear malformation defect (Mondini dysplasia) NOT_TRANSLATED -HP:0000376 Mondini defect NOT_TRANSLATED -HP:0000376 Mondini dysplasia NOT_TRANSLATED -HP:0000376 Mondini malformation NOT_TRANSLATED -HP:0000377 Abnormal form of ears NOT_TRANSLATED -HP:0000377 Abnormally shaped ears NOT_TRANSLATED -HP:0000377 Auricular malformation NOT_TRANSLATED -HP:0000377 Deformed auricles NOT_TRANSLATED -HP:0000377 Deformed ears NOT_TRANSLATED -HP:0000377 Dysplastic ears NOT_TRANSLATED -HP:0000377 Malformation of auricle NOT_TRANSLATED -HP:0000377 Malformed auricles NOT_TRANSLATED -HP:0000377 Malformed ears NOT_TRANSLATED -HP:0000377 Malformed external ears NOT_TRANSLATED -HP:0000377 Minor malformation of the auricles NOT_TRANSLATED -HP:0000377 Poorly defined conchae NOT_TRANSLATED -HP:0000378 Capuchin ears NOT_TRANSLATED -HP:0000378 Cup-shaped ears NOT_TRANSLATED -HP:0000378 Cupped ears NOT_TRANSLATED -HP:0000378 Simple, cup-shaped ears NOT_TRANSLATED -HP:0033148 Increased circulating isovalerate NOT_TRANSLATED -HP:0033148 Isovalericacidemia NOT_TRANSLATED -HP:0000381 Stapes fixation NOT_TRANSLATED -HP:0033149 Dilatation of intrahepatic biliary ducts NOT_TRANSLATED -HP:0000383 Abnormality of periauricular region NOT_TRANSLATED -HP:0000383 Abnormality of the region around the ear NOT_TRANSLATED -HP:0000383 Anomaly of the periauricular region NOT_TRANSLATED -HP:0000383 Deformity of the periauricular region NOT_TRANSLATED -HP:0000383 Malformation of the periauricular region NOT_TRANSLATED -HP:0000384 Ear tag NOT_TRANSLATED -HP:0000384 Periauricular skin tag NOT_TRANSLATED -HP:0000384 Preauricular acrochordon NOT_TRANSLATED -HP:0000384 Preauricular fibroepithelial polyp NOT_TRANSLATED -HP:0000384 Preauricular skin tags NOT_TRANSLATED -HP:0000384 Preauricular tag NOT_TRANSLATED -HP:0000384 Preauricular tags NOT_TRANSLATED -HP:0000384 Skin tag in front of the ear NOT_TRANSLATED -HP:0000384 Skin tag on the posterior cheek NOT_TRANSLATED -HP:0000385 Hypoplastic earlobes NOT_TRANSLATED -HP:0000385 Hypoplastic lobules NOT_TRANSLATED -HP:0000385 Small earlobes NOT_TRANSLATED -HP:0033153 Elevated plasma dodecenoylcarnitine concentration NOT_TRANSLATED -HP:0000387 Absent ear lobes NOT_TRANSLATED -HP:0000387 Earlobe, absent NOT_TRANSLATED -HP:0000387 Lobeless ears NOT_TRANSLATED -HP:0000387 Lobule aplasia NOT_TRANSLATED -HP:0000388 Middle ear infection NOT_TRANSLATED -HP:0000389 Chronic ear infection NOT_TRANSLATED -HP:0000389 Chronic infections of the middle ear NOT_TRANSLATED -HP:0000389 Chronic middle ear infection NOT_TRANSLATED -HP:0000389 Otitis media, chronic NOT_TRANSLATED -HP:0033158 Dminished respiratory ciliary beat frequency NOT_TRANSLATED -HP:0000391 Thick helix NOT_TRANSLATED -HP:0000396 Over-folded helices NOT_TRANSLATED -HP:0000396 Overfolded ears NOT_TRANSLATED -HP:0000396 Overfolded helices NOT_TRANSLATED -HP:0000399 Deafness, sensorineural, prelingual NOT_TRANSLATED -HP:0000399 Prelingual sensorineural deafness NOT_TRANSLATED -HP:0000400 Large ears NOT_TRANSLATED -HP:0000400 Large pinnae NOT_TRANSLATED -HP:0033169 Reduced TLC NOT_TRANSLATED -HP:0000402 External auditory canal stenosis NOT_TRANSLATED -HP:0000402 Narrow auditory canals NOT_TRANSLATED -HP:0000402 Narrow ear canal NOT_TRANSLATED -HP:0000402 Narrow external auditory canals NOT_TRANSLATED -HP:0000402 Narrow external auditory meatus NOT_TRANSLATED -HP:0000402 Narrowing of passageway from outer ear to middle ear NOT_TRANSLATED -HP:0000402 Stenotic external auditory canal NOT_TRANSLATED -HP:0000403 Frequent otitis media NOT_TRANSLATED -HP:0000403 Multiple episodes of otitis media NOT_TRANSLATED -HP:0000403 Otitis media, recurrent NOT_TRANSLATED -HP:0000403 Recurrent episodes of otitis media NOT_TRANSLATED -HP:0000403 Recurrent middle ear infection NOT_TRANSLATED -HP:0000403 Susceptibility to otitis media NOT_TRANSLATED -HP:0000405 Conduction deafness NOT_TRANSLATED -HP:0000405 Conductive deafness NOT_TRANSLATED -HP:0000405 Conductive hearing loss NOT_TRANSLATED -HP:0000405 Hearing loss, conductive NOT_TRANSLATED -HP:0000407 Hearing loss, sensorineural NOT_TRANSLATED -HP:0000407 Sensorineural deafness NOT_TRANSLATED -HP:0000407 Sensorineural hearing loss NOT_TRANSLATED -HP:0033175 Elevated circulating L-pyroglutamic acid concentration NOT_TRANSLATED -HP:0000408 Bilateral progressive sensorineural hearing loss NOT_TRANSLATED -HP:0000408 Hearing loss, progressive sensorineural NOT_TRANSLATED -HP:0000408 Hearing loss, sensorineural, bilateral, progressive NOT_TRANSLATED -HP:0000408 Hearing loss, sensorineural, progressive NOT_TRANSLATED -HP:0000408 Progressive bilateral sensorineural hearing loss NOT_TRANSLATED -HP:0000408 Sensorineural hearing loss, progressive NOT_TRANSLATED -HP:0033176 Submandibular lymphadenopathy NOT_TRANSLATED -HP:0000410 Hearing loss, mixed NOT_TRANSLATED -HP:0000410 Mixed hearing loss NOT_TRANSLATED -HP:0033178 Increased serum IL-8 NOT_TRANSLATED -HP:0033178 Increased serum interleukin 8 NOT_TRANSLATED -HP:0033178 Increased serum interleukin-8 NOT_TRANSLATED -HP:0000411 Prominent ear NOT_TRANSLATED -HP:0000411 Prominent ears NOT_TRANSLATED -HP:0000411 Protruding ears NOT_TRANSLATED -HP:0033180 Twisted vestigial remnant of the Muellerian duct NOT_TRANSLATED -HP:0000413 Absent auditory canals NOT_TRANSLATED -HP:0000413 Absent ear canal NOT_TRANSLATED -HP:0000413 Absent external auditory canals NOT_TRANSLATED -HP:0000413 Atresia of the external auditory canals NOT_TRANSLATED -HP:0000413 Atretic auditory canal NOT_TRANSLATED -HP:0000413 Atretic auditory canals NOT_TRANSLATED -HP:0000413 Atretic external auditory canal NOT_TRANSLATED -HP:0000413 Atretic external auditory canals NOT_TRANSLATED -HP:0000413 Auditory canal atresia NOT_TRANSLATED -HP:0000413 External acoustic meatus atresia NOT_TRANSLATED -HP:0000413 External auditory canal atresia NOT_TRANSLATED -HP:0000413 External auditory meatal atresia NOT_TRANSLATED -HP:0000413 External auditory meatus atresia NOT_TRANSLATED -HP:0033181 A severe pyogenic infection of the epidural space NOT_TRANSLATED -HP:0000414 Bulbous nasal tip NOT_TRANSLATED -HP:0000414 Potato nose NOT_TRANSLATED -HP:0033185 Triggered by Epstein Barr virus infection NOT_TRANSLATED -HP:0000418 Decreased width of dorsum of nose NOT_TRANSLATED -HP:0000418 Decreased width of nasal dorsum NOT_TRANSLATED -HP:0000418 Decreased width of nasal ridge NOT_TRANSLATED -HP:0000418 Narrow dorsum of nose NOT_TRANSLATED -HP:0000418 Narrow nasal dorsum NOT_TRANSLATED -HP:0000418 Pinched nose NOT_TRANSLATED -HP:0000418 Thin dorsum of nose NOT_TRANSLATED -HP:0000418 Thin nasal dorsum NOT_TRANSLATED -HP:0000418 Thin nasal ridge NOT_TRANSLATED -HP:0000419 Abnormality of septum of nose NOT_TRANSLATED -HP:0000419 Abnormality of the nasal septum NOT_TRANSLATED -HP:0000419 Anomaly of nasal septum NOT_TRANSLATED -HP:0000419 Anomaly of septum of nose NOT_TRANSLATED -HP:0033187 Imidodipeptiduria NOT_TRANSLATED -HP:0000420 Decreased length of nasal septum NOT_TRANSLATED -HP:0000420 Decreased length of septum of nose NOT_TRANSLATED -HP:0000420 Short septum of nose NOT_TRANSLATED -HP:0000421 Bloody nose NOT_TRANSLATED -HP:0000421 Frequent nosebleeds NOT_TRANSLATED -HP:0000421 Nasal haemorrhage NOT_TRANSLATED -HP:0000421 Nasal hemorrhage NOT_TRANSLATED -HP:0000421 Nose bleed NOT_TRANSLATED -HP:0000421 Nose bleeding NOT_TRANSLATED -HP:0000421 Nosebleed NOT_TRANSLATED -HP:0033189 Long dental root NOT_TRANSLATED -HP:0033189 Rhizomegaly NOT_TRANSLATED -HP:0033189 Root gigantism NOT_TRANSLATED -HP:0000422 Abnormality of the bridge of the nose NOT_TRANSLATED -HP:0000422 Abnormality of the nasal bridge NOT_TRANSLATED -HP:0000422 Abnormality of the nasal root NOT_TRANSLATED -HP:0000422 Deformity of the bridge of the nose NOT_TRANSLATED -HP:0000422 Deformity of the nasal bridge NOT_TRANSLATED -HP:0000422 Malformation of the bridge of the nose NOT_TRANSLATED -HP:0000422 Malformation of the nasal bridge NOT_TRANSLATED -HP:0033190 Cutaneous hyperpigmentation with overlying hypertrichosis NOT_TRANSLATED -HP:0033193 Ballooning degeneration of hepatocytes NOT_TRANSLATED -HP:0000426 Convex bridge of nose NOT_TRANSLATED -HP:0000426 Convex nasal bridge NOT_TRANSLATED -HP:0000426 Elevated nasal bridge NOT_TRANSLATED -HP:0000426 High nasal bridge NOT_TRANSLATED -HP:0000426 Prominent bridge of nose NOT_TRANSLATED -HP:0000426 Prominent nasal root NOT_TRANSLATED -HP:0000426 Protruding bridge of nose NOT_TRANSLATED -HP:0000426 Protruding nasal bridge NOT_TRANSLATED -HP:0033196 Hepatic portal inflammation NOT_TRANSLATED -HP:0000429 Abnormality of the nasal ala NOT_TRANSLATED -HP:0000429 Abnormality of the nasal alae NOT_TRANSLATED -HP:0000429 Abnormality of the nasal alar cartilage NOT_TRANSLATED -HP:0000429 Deformity of the nasal ala NOT_TRANSLATED -HP:0000429 Deformity of the nasal alar cartilage NOT_TRANSLATED -HP:0000429 Malformation of the nasal ala NOT_TRANSLATED -HP:0000429 Malformation of the nasal alar cartilage NOT_TRANSLATED -HP:0000430 Ala nasi, underdeveloped NOT_TRANSLATED -HP:0000430 Alar cartilage hypoplasia NOT_TRANSLATED -HP:0000430 Decreased size of nasal alae NOT_TRANSLATED -HP:0000430 Hypoplastic alae nasae NOT_TRANSLATED -HP:0000430 Hypoplastic alae nasi NOT_TRANSLATED -HP:0000430 Hypoplastic alar cartilage NOT_TRANSLATED -HP:0000430 Hypoplastic alar nasae NOT_TRANSLATED -HP:0000430 Hypoplastic nares NOT_TRANSLATED -HP:0000430 Hypoplastic nasal alae NOT_TRANSLATED -HP:0000430 Hypoplastic nasal wings NOT_TRANSLATED -HP:0000430 Hypoplastic nostrils NOT_TRANSLATED -HP:0000430 Nasal cartilage hypoplasia NOT_TRANSLATED -HP:0000430 Small nasal alae NOT_TRANSLATED -HP:0000430 Thin hypoplastic alae nasi NOT_TRANSLATED -HP:0000430 Underdeveloped tissue around nostril NOT_TRANSLATED -HP:0000431 Broad flat nasal bridge NOT_TRANSLATED -HP:0000431 Broad nasal bridge NOT_TRANSLATED -HP:0000431 Broad nasal root NOT_TRANSLATED -HP:0000431 Broadened nasal bridge NOT_TRANSLATED -HP:0000431 Increased breadth of bridge of nose NOT_TRANSLATED -HP:0000431 Increased breadth of nasal bridge NOT_TRANSLATED -HP:0000431 Increased width of bridge of nose NOT_TRANSLATED -HP:0000431 Increased width of nasal bridge NOT_TRANSLATED -HP:0000431 Nasal bridge broad NOT_TRANSLATED -HP:0000431 Nasal bridge, wide NOT_TRANSLATED -HP:0000431 Wide bridge of nose NOT_TRANSLATED -HP:0000431 Widened nasal bridge NOT_TRANSLATED -HP:0033199 Increased serum interleukin 10 NOT_TRANSLATED -HP:0033200 Hyporeflexia of triceps NOT_TRANSLATED -HP:0000433 Abnormality of mucosa of nose NOT_TRANSLATED -HP:0000433 Abnormality of mucous membrane of nose NOT_TRANSLATED -HP:0000433 Abnormality of nasal mucous membrane NOT_TRANSLATED -HP:0000433 Abnormality of the nasal mucosa NOT_TRANSLATED -HP:0033201 Hyporeflexia of biceps NOT_TRANSLATED -HP:0000434 Angioectasia of mucosa of nose NOT_TRANSLATED -HP:0000434 Angioectasia of mucous membrane of nose NOT_TRANSLATED -HP:0000434 Angioectasia of nasal mucous membrane NOT_TRANSLATED -HP:0000434 Nasal mucous membrane telangiectasia NOT_TRANSLATED -HP:0000434 Spider veins of mucosa of nose NOT_TRANSLATED -HP:0000434 Spider veins of mucous membrane of nose NOT_TRANSLATED -HP:0000434 Spider veins of nasal mucous membrane NOT_TRANSLATED -HP:0000434 Telangiectasia of mucosa of nose NOT_TRANSLATED -HP:0000434 Telangiectasia of mucous membrane of nose NOT_TRANSLATED -HP:0000434 Telangiectasia of nasal mucous membrane NOT_TRANSLATED -HP:0000436 Abnormality of the nasal tip NOT_TRANSLATED -HP:0000436 Abnormality of tip of nose NOT_TRANSLATED -HP:0000436 Deformity of the nasal tip NOT_TRANSLATED -HP:0000436 Deformity of tip of nose NOT_TRANSLATED -HP:0000436 Malformation of the nasal tip NOT_TRANSLATED -HP:0000436 Malformation of tip of nose NOT_TRANSLATED -HP:0000437 Caved in nasal tip NOT_TRANSLATED -HP:0000437 Depressed tip of nose NOT_TRANSLATED -HP:0000437 Flat nasal tip NOT_TRANSLATED -HP:0000437 Flat tip of nose NOT_TRANSLATED -HP:0000437 Flattened nasal tip NOT_TRANSLATED -HP:0000437 Nasal tip, depressed NOT_TRANSLATED -HP:0000437 Nasal tip, recessed NOT_TRANSLATED -HP:0000437 Nasal tip, retruded NOT_TRANSLATED -HP:0000437 Retruded tip of nose NOT_TRANSLATED -HP:0033206 Hyperactive ankle jerk reflex NOT_TRANSLATED -HP:0033206 Hyperactive ankle reflex NOT_TRANSLATED -HP:0000444 Beaked nose NOT_TRANSLATED -HP:0000444 Beaklike protrusion NOT_TRANSLATED -HP:0000444 Convex dorsum of nose NOT_TRANSLATED -HP:0000444 Convex nasal dorsum NOT_TRANSLATED -HP:0000444 Hooked nose NOT_TRANSLATED -HP:0000444 Polly beak nasal deformity NOT_TRANSLATED -HP:0000445 Broad nose NOT_TRANSLATED -HP:0000445 Increased breadth of nose NOT_TRANSLATED -HP:0000445 Increased nasal breadth NOT_TRANSLATED -HP:0000445 Increased nasal width NOT_TRANSLATED -HP:0000445 Increased width of nose NOT_TRANSLATED -HP:0033213 Elevated urine octanedioic acid level NOT_TRANSLATED -HP:0000446 Narrow bridge of nose NOT_TRANSLATED -HP:0000446 Narrow nasal root NOT_TRANSLATED -HP:0000446 Nasal Bridge, Narrow NOT_TRANSLATED -HP:0000446 Nasal bridge, thin NOT_TRANSLATED -HP:0000446 Pinched bridge of nose NOT_TRANSLATED -HP:0000446 Pinched nasal bridge NOT_TRANSLATED -HP:0000448 Big nose NOT_TRANSLATED -HP:0000448 Disproportionately large nose NOT_TRANSLATED -HP:0000448 Hyperplasia of nose NOT_TRANSLATED -HP:0000448 Hypertrophy of nose NOT_TRANSLATED -HP:0000448 Increased nasal size NOT_TRANSLATED -HP:0000448 Increased size of nose NOT_TRANSLATED -HP:0000448 Large nose NOT_TRANSLATED -HP:0000448 Nasal hyperplasia NOT_TRANSLATED -HP:0000448 Nasal hypertrophy NOT_TRANSLATED -HP:0000448 Pronounced nose NOT_TRANSLATED -HP:0000451 Triangular shaped tip of nose NOT_TRANSLATED -HP:0000452 Coanal stenosis NOT_TRANSLATED -HP:0000452 Narrowing of the rear opening of the nasal cavity NOT_TRANSLATED -HP:0033220 Elevated urinary 2-ethylhydracylic acid NOT_TRANSLATED -HP:0033220 Elevated urinary 2-methylbutyrylglycine NOT_TRANSLATED -HP:0000453 Blockage of the rear opening of the nasal cavity NOT_TRANSLATED -HP:0000454 Flared nasal alae NOT_TRANSLATED -HP:0033222 Inverted CD4/CD8 ratio NOT_TRANSLATED -HP:0033222 Inverted CD4:CD8 ratio NOT_TRANSLATED -HP:0000455 Broad tip of nose NOT_TRANSLATED -HP:0000455 Broad upturned nose NOT_TRANSLATED -HP:0000455 Broad, upturned nose NOT_TRANSLATED -HP:0000455 Increased breadth of nasal tip NOT_TRANSLATED -HP:0000455 Increased breadth of tip of nose NOT_TRANSLATED -HP:0000455 Increased width of nasal tip NOT_TRANSLATED -HP:0000455 Increased width of tip of nose NOT_TRANSLATED -HP:0000455 Nasal tip, broad NOT_TRANSLATED -HP:0000455 Nasal tip, wide NOT_TRANSLATED -HP:0000455 Wide tip of nose NOT_TRANSLATED -HP:0000456 Bifid tip of nose NOT_TRANSLATED -HP:0000456 Cleft nasal tip NOT_TRANSLATED -HP:0000456 Cleft tip of nose NOT_TRANSLATED -HP:0000456 Notched nasal tip NOT_TRANSLATED -HP:0000456 Notched tip of nose NOT_TRANSLATED -HP:0033224 Hyperplasia of the glomerular parietal epithelial cell NOT_TRANSLATED -HP:0000457 Depressed dorsum of nose NOT_TRANSLATED -HP:0000457 Depressed nasal dorsum NOT_TRANSLATED -HP:0000457 Flat dorsum of nose NOT_TRANSLATED -HP:0000457 Flat nasal dorsum NOT_TRANSLATED -HP:0000457 Flat nose NOT_TRANSLATED -HP:0000457 Recessed dorsum of nose NOT_TRANSLATED -HP:0000457 Recessed nasal dorsum NOT_TRANSLATED -HP:0000457 Recessed nasal ridge NOT_TRANSLATED -HP:0000457 Retruded dorsum of nose NOT_TRANSLATED -HP:0000457 Retruded nasal dorsum NOT_TRANSLATED -HP:0000457 Retruded nasal ridge NOT_TRANSLATED -HP:0033225 Hypertrophy of the glomerular parietal epithelial cell NOT_TRANSLATED -HP:0000458 Loss of smell NOT_TRANSLATED -HP:0000458 Lost smell NOT_TRANSLATED -HP:0033226 Capsular hyaline drops within Bowman's capsule NOT_TRANSLATED -HP:0000460 Decreased nasal breadth NOT_TRANSLATED -HP:0000460 Decreased nasal width NOT_TRANSLATED -HP:0000460 Thin nose NOT_TRANSLATED -HP:0033228 Areflexia of triceps NOT_TRANSLATED -HP:0033229 Areflexia of brachioradialis NOT_TRANSLATED -HP:0033230 Areflexia of biceps NOT_TRANSLATED -HP:0000463 Anteverted nose NOT_TRANSLATED -HP:0000463 Anteverted nostrils NOT_TRANSLATED -HP:0000463 Nasal tip, upturned NOT_TRANSLATED -HP:0000463 Nostrils anteverted NOT_TRANSLATED -HP:0000463 Upturned nares NOT_TRANSLATED -HP:0000463 Upturned nasal tip NOT_TRANSLATED -HP:0000463 Upturned nasal tips NOT_TRANSLATED -HP:0000463 Upturned nose NOT_TRANSLATED -HP:0000463 Upturned nostrils NOT_TRANSLATED -HP:0000464 Anomaly of the neck NOT_TRANSLATED -HP:0000464 Deformity of the neck NOT_TRANSLATED -HP:0000464 Malformation of the neck NOT_TRANSLATED -HP:0000465 Neck webbing NOT_TRANSLATED -HP:0000465 Pterygium colli NOT_TRANSLATED -HP:0000466 Limited cervical range of motion NOT_TRANSLATED -HP:0000467 Flaccid neck NOT_TRANSLATED -HP:0000467 Floppy neck NOT_TRANSLATED -HP:0033235 Difficulty walking down stairs NOT_TRANSLATED -HP:0000468 Increased fat around the neck NOT_TRANSLATED -HP:0033236 Central fatigue NOT_TRANSLATED -HP:0033237 Detachment of visceral epithelial cells NOT_TRANSLATED -HP:0033237 Podocyte detachment NOT_TRANSLATED -HP:0000470 Cervical shortening NOT_TRANSLATED -HP:0000470 Decreased cervical height NOT_TRANSLATED -HP:0000470 Decreased cervical length NOT_TRANSLATED -HP:0000470 Decreased length of neck NOT_TRANSLATED -HP:0000471 GI angiodysplasia NOT_TRANSLATED -HP:0033239 Podocyte cap NOT_TRANSLATED -HP:0000472 Cervical elongation NOT_TRANSLATED -HP:0000472 Elongated neck NOT_TRANSLATED -HP:0000472 Increased cervical length NOT_TRANSLATED -HP:0000472 Increased length of neck NOT_TRANSLATED -HP:0033240 Hyperinflation on pulmonary function test NOT_TRANSLATED -HP:0033240 Overinflation on pulmonary function test NOT_TRANSLATED -HP:0000473 Cervical dystonia NOT_TRANSLATED -HP:0000473 Loxia NOT_TRANSLATED -HP:0000473 Spasmodic torticollis NOT_TRANSLATED -HP:0000473 Wry neck NOT_TRANSLATED -HP:0000474 Excess nuchal skin NOT_TRANSLATED -HP:0000474 Increased nuchal fold NOT_TRANSLATED -HP:0000474 Increased nuchal fold thickness NOT_TRANSLATED -HP:0000474 Thick nuchal fold NOT_TRANSLATED -HP:0000474 Thickened nuchal skin NOT_TRANSLATED -HP:0000474 Thickened skin folds of neck NOT_TRANSLATED -HP:0000474 Thickened skin over the neck NOT_TRANSLATED -HP:0000475 Increased width of neck NOT_TRANSLATED -HP:0000475 Thick neck NOT_TRANSLATED -HP:0000475 Wide neck NOT_TRANSLATED -HP:0000476 Cystic hygroma of the neck NOT_TRANSLATED -HP:0033245 Abnormal alveolar epithelial type II cell morphology NOT_TRANSLATED -HP:0033245 Abnormal pulmonary type II cell morphology NOT_TRANSLATED -HP:0033245 Abnormal type II pneumocyte morphology NOT_TRANSLATED -HP:0000478 Abnormal eye NOT_TRANSLATED -HP:0000478 Eye disease NOT_TRANSLATED -HP:0033246 Hypertrophic alveolar type II cells NOT_TRANSLATED -HP:0033246 Hypertrophic alveolar type II pneumocytes NOT_TRANSLATED -HP:0000479 Abnormal retina NOT_TRANSLATED -HP:0000479 Abnormality of the retina NOT_TRANSLATED -HP:0000479 Anomaly of the retina NOT_TRANSLATED -HP:0000479 Retina issue NOT_TRANSLATED -HP:0000479 Retinal disease NOT_TRANSLATED -HP:0000480 Hole in the back of the eye NOT_TRANSLATED -HP:0000481 Abnormality of the cornea NOT_TRANSLATED -HP:0000481 Corneal abnormalities NOT_TRANSLATED -HP:0000481 Corneal abnormality NOT_TRANSLATED -HP:0000481 Cornela disease NOT_TRANSLATED -HP:0033249 Focal substantia nigra T2 hyperintense lesion NOT_TRANSLATED -HP:0000482 Cornea of eye less than 10mm in diameter NOT_TRANSLATED -HP:0000482 Decreased corneal diameter NOT_TRANSLATED -HP:0000483 Abnormal curving of the cornea or lens of the eye NOT_TRANSLATED -HP:0033251 Elevated RV NOT_TRANSLATED -HP:0000485 Anterior megalophthalmos NOT_TRANSLATED -HP:0000485 Enlarged cornea NOT_TRANSLATED -HP:0000485 Increased corneal diameter NOT_TRANSLATED -HP:0000485 Macrocornea NOT_TRANSLATED -HP:0033253 Reduced circulating interferon gamma NOT_TRANSLATED -HP:0000486 Cross-eyed NOT_TRANSLATED -HP:0000486 Squint NOT_TRANSLATED -HP:0000486 Squint eyes NOT_TRANSLATED -HP:0033254 Stricture of the anorectum NOT_TRANSLATED -HP:0033255 Congenital lobar emphysema NOT_TRANSLATED -HP:0000488 Noninflammatory retina disease NOT_TRANSLATED -HP:0033257 Delayed ability to cruise NOT_TRANSLATED -HP:0000490 Deep set eye NOT_TRANSLATED -HP:0000490 Deep-set eyes NOT_TRANSLATED -HP:0000490 Enophthalmos NOT_TRANSLATED -HP:0000490 Ocular depression NOT_TRANSLATED -HP:0000490 Sunken eye NOT_TRANSLATED -HP:0000490 Sunken eyes NOT_TRANSLATED -HP:0033258 SUDEP NOT_TRANSLATED -HP:0000491 Corneal inflammation NOT_TRANSLATED -HP:0000492 Abnormality of the eyelid NOT_TRANSLATED -HP:0000492 Abnormality of the eyelids NOT_TRANSLATED -HP:0000493 Abnormality of the fovea NOT_TRANSLATED -HP:0000494 Antimongoloid eye slant NOT_TRANSLATED -HP:0000494 Antimongoloid slant of palpebral fissures NOT_TRANSLATED -HP:0000494 Antimongoloid slanted palpebral fissures NOT_TRANSLATED -HP:0000494 Down slanting palpebral fissures NOT_TRANSLATED -HP:0000494 Down-slanted palpebral fissures NOT_TRANSLATED -HP:0000494 Down-slanting palpebral fissure NOT_TRANSLATED -HP:0000494 Down-slanting palpebral fissures NOT_TRANSLATED -HP:0000494 Downslanting palpebral fissure NOT_TRANSLATED -HP:0000494 Downslanting palpebral fissures NOT_TRANSLATED -HP:0000494 Downward slanted palpebral fissures NOT_TRANSLATED -HP:0000494 Downward slanting of the opening between the eyelids NOT_TRANSLATED -HP:0000494 Downward slanting palpebral fissures NOT_TRANSLATED -HP:0000494 Downward-slanting palpebral fissures NOT_TRANSLATED -HP:0000494 Palpebral fissures down-slanted NOT_TRANSLATED -HP:0033262 Transphyseal distal humerus fracture NOT_TRANSLATED -HP:0000495 Corneal erosions, recurrent NOT_TRANSLATED -HP:0000495 Epithelial corneal erosions NOT_TRANSLATED -HP:0000495 Recurrent breakdown of clear protective layer of eye NOT_TRANSLATED -HP:0000495 Recurrent corneal ulceration NOT_TRANSLATED -HP:0000495 Recurrent corneal ulcerations NOT_TRANSLATED -HP:0033263 Absent platelet dense bodies NOT_TRANSLATED -HP:0000496 Abnormal extraocular movement NOT_TRANSLATED -HP:0000496 Abnormal extraocular movements NOT_TRANSLATED -HP:0000496 Abnormal eye motility NOT_TRANSLATED -HP:0000496 Abnormal eye movement NOT_TRANSLATED -HP:0000496 Abnormal eye movements NOT_TRANSLATED -HP:0000496 Abnormal motility of the globe of the eye NOT_TRANSLATED -HP:0000496 Abnormal movement of the globe of the eye NOT_TRANSLATED -HP:0000496 Abnormal ocular movements NOT_TRANSLATED -HP:0000496 Eye movement abnormalities NOT_TRANSLATED -HP:0000496 Eye movement issue NOT_TRANSLATED -HP:0000496 Ocular movement abnormalities NOT_TRANSLATED -HP:0000496 Oculomotor abnormalities NOT_TRANSLATED -HP:0033265 Podocyte myelin inclusions NOT_TRANSLATED -HP:0000498 Cellulitis of eyelids NOT_TRANSLATED -HP:0000498 Inflammation of eyelids NOT_TRANSLATED -HP:0000499 Abnormal eyelashes NOT_TRANSLATED -HP:0000499 Abnormality of the eyelashes NOT_TRANSLATED -HP:0000499 Eyelash abnormality NOT_TRANSLATED -HP:0033269 Collapse of glomerular capillary walls NOT_TRANSLATED -HP:0033270 Glomerular congestion NOT_TRANSLATED -HP:0000504 Abnormality of sight NOT_TRANSLATED -HP:0000504 Vision issue NOT_TRANSLATED -HP:0000505 Impaired vision NOT_TRANSLATED -HP:0000505 Loss of eyesight NOT_TRANSLATED -HP:0000505 Poor vision NOT_TRANSLATED -HP:0000506 Corners of eye widely separated NOT_TRANSLATED -HP:0000506 Dystopia canthorum NOT_TRANSLATED -HP:0000506 Increased distance between medial canthi NOT_TRANSLATED -HP:0000506 Increased intercanthal distance NOT_TRANSLATED -HP:0000508 Blepharoptosis NOT_TRANSLATED -HP:0000508 Drooping upper eyelid NOT_TRANSLATED -HP:0000508 Eye drop NOT_TRANSLATED -HP:0000508 Eyelid ptosis NOT_TRANSLATED -HP:0000509 Conjunctivitis, recurrent NOT_TRANSLATED -HP:0000509 Pink eye NOT_TRANSLATED -HP:0000510 Retinitis pigmentosa NOT_TRANSLATED -HP:0000510 Rod cone dystrophy NOT_TRANSLATED -HP:0000511 Vertical gaze palsy NOT_TRANSLATED -HP:0000512 Abnormal electroretinography NOT_TRANSLATED -HP:0000512 Abnormal ERG NOT_TRANSLATED -HP:0000512 ERG abnormal NOT_TRANSLATED -HP:0000514 Slow eye movements NOT_TRANSLATED -HP:0000514 Slow saccades NOT_TRANSLATED -HP:0000514 Slow visual tracking NOT_TRANSLATED -HP:0000517 Abnormality of the lens NOT_TRANSLATED -HP:0000517 Lens disease NOT_TRANSLATED -HP:0000517 Lens issue NOT_TRANSLATED -HP:0000518 Cataracts NOT_TRANSLATED -HP:0000518 Clouding of the lens of the eye NOT_TRANSLATED -HP:0000518 Cloudy lens NOT_TRANSLATED -HP:0000518 Lens opacities NOT_TRANSLATED -HP:0000518 Lens opacity NOT_TRANSLATED -HP:0000519 Bilateral congenital cataracts NOT_TRANSLATED -HP:0000519 Cataract, congenital NOT_TRANSLATED -HP:0000519 Clouding of the lens of the eye at birth NOT_TRANSLATED -HP:0000519 Congenital cataract NOT_TRANSLATED -HP:0000519 Congenital cataracts NOT_TRANSLATED -HP:0000519 Congenital cataracts, bilateral NOT_TRANSLATED -HP:0000520 Anterior bulging of the globe NOT_TRANSLATED -HP:0000520 Anterior bulging of the globe of eye NOT_TRANSLATED -HP:0000520 Bulging eye NOT_TRANSLATED -HP:0000520 Exophthalmos NOT_TRANSLATED -HP:0000520 Eyeballs bulging out NOT_TRANSLATED -HP:0000520 Ocular proptosis NOT_TRANSLATED -HP:0000520 Prominent eyes NOT_TRANSLATED -HP:0000520 Prominent globes NOT_TRANSLATED -HP:0000520 Protruding eyes NOT_TRANSLATED -HP:0000520 Protrusio bulbi NOT_TRANSLATED -HP:0000522 Absence of tears in the eyes NOT_TRANSLATED -HP:0000522 Absent lacrimal fluids NOT_TRANSLATED -HP:0000522 Absent tear secretion NOT_TRANSLATED -HP:0000523 Subcapsular cataracts NOT_TRANSLATED -HP:0000523 Subcapsular lenticular cataracts NOT_TRANSLATED -HP:0000523 Subcapsular opacities NOT_TRANSLATED -HP:0000524 Conjunctival telangiectases NOT_TRANSLATED -HP:0000524 Small dilated blood vessels near membrane covering front of eye and eyelids NOT_TRANSLATED -HP:0000524 Telangiectasia, conjunctival NOT_TRANSLATED -HP:0000525 Abnormality of the iris NOT_TRANSLATED -HP:0000526 Absent iris NOT_TRANSLATED -HP:0000527 Ciliary trichomegaly NOT_TRANSLATED -HP:0000527 Eyelash trichomegaly NOT_TRANSLATED -HP:0000527 Increased length of eyelashes NOT_TRANSLATED -HP:0000527 Unusually long eyelashes NOT_TRANSLATED -HP:0000528 Absence of eyeballs NOT_TRANSLATED -HP:0000528 Absence of globes of eyes NOT_TRANSLATED -HP:0000528 Anophthalmia, clinical NOT_TRANSLATED -HP:0000528 Clinical anophthalmia, unilateral/bilateral NOT_TRANSLATED -HP:0000528 Failure of development of eyeball NOT_TRANSLATED -HP:0000528 Missing eyeball NOT_TRANSLATED -HP:0000528 Missing globe of eye NOT_TRANSLATED -HP:0000528 No eyeball NOT_TRANSLATED -HP:0000528 No globe of eye NOT_TRANSLATED -HP:0000528 Ocular absence NOT_TRANSLATED -HP:0033296 Binucleated podocytes NOT_TRANSLATED -HP:0000529 Decreased visual acuity, progressive NOT_TRANSLATED -HP:0000529 Loss of visual acuity NOT_TRANSLATED -HP:0000529 Progressive loss of vision NOT_TRANSLATED -HP:0000529 Progressive vision loss NOT_TRANSLATED -HP:0000529 Progressive visual acuity loss NOT_TRANSLATED -HP:0000529 Progressive visual impairment NOT_TRANSLATED -HP:0000529 Slowly progressive visual loss NOT_TRANSLATED -HP:0000529 Vision loss, progressive NOT_TRANSLATED -HP:0000529 Visual loss, progressive NOT_TRANSLATED -HP:0033297 Multinucleated podocytes NOT_TRANSLATED -HP:0033297 Podocyte multinucleation NOT_TRANSLATED -HP:0000531 Corneal deposits NOT_TRANSLATED -HP:0000532 Chorioretinal abnormality NOT_TRANSLATED -HP:0000533 Chorioretinal thinning NOT_TRANSLATED -HP:0000534 Abnormality of the eyebrow NOT_TRANSLATED -HP:0000540 Farsightedness NOT_TRANSLATED -HP:0000540 Hyperopia NOT_TRANSLATED -HP:0000540 Long-sightedness NOT_TRANSLATED -HP:0000541 Detached retina NOT_TRANSLATED -HP:0000543 Disc pallor NOT_TRANSLATED -HP:0000543 Pale optic disc NOT_TRANSLATED -HP:0000543 Pale optic discs NOT_TRANSLATED -HP:0000543 Pale optic disk NOT_TRANSLATED -HP:0000544 Chronic progressive external ophthalmoplegia NOT_TRANSLATED -HP:0000544 CPEO NOT_TRANSLATED -HP:0000544 Ophthalmoplegia externa NOT_TRANSLATED -HP:0000544 Paralysis or weakness of muscles within or surrounding outer part of eye NOT_TRANSLATED -HP:0000544 Progressive paralysis or weakness of muscles of eye motility NOT_TRANSLATED -HP:0000544 Progressive paralysis or weakness of muscles of eye movement NOT_TRANSLATED -HP:0000545 Close sighted NOT_TRANSLATED -HP:0000545 Near sighted NOT_TRANSLATED -HP:0000545 Near sightedness NOT_TRANSLATED -HP:0000545 Nearsightedness NOT_TRANSLATED -HP:0033313 Collagenization of the urinary space NOT_TRANSLATED -HP:0000546 Retina degeneration NOT_TRANSLATED -HP:0033314 Hyperplasia of visceral epithelial cells NOT_TRANSLATED -HP:0033314 Podocyte hyperplasia NOT_TRANSLATED -HP:0000548 Cone rod dystrophy NOT_TRANSLATED -HP:0000548 Cone-rod retinal dystrophy NOT_TRANSLATED -HP:0000549 Disconjugate eye movements NOT_TRANSLATED -HP:0000550 Abolished electroretinogram NOT_TRANSLATED -HP:0000550 Absent electroretinogram NOT_TRANSLATED -HP:0000550 Extinction of electroretinogram NOT_TRANSLATED -HP:0000550 Extinguished electroretinogram NOT_TRANSLATED -HP:0000550 No light-evoked response on electroretinogram NOT_TRANSLATED -HP:0000550 Undetectable ERG NOT_TRANSLATED -HP:0000551 Abnormal color vision NOT_TRANSLATED -HP:0000551 Abnormal colour vision NOT_TRANSLATED -HP:0000551 Abnormality of color vision NOT_TRANSLATED -HP:0000551 Abnormality of colour vision NOT_TRANSLATED -HP:0000551 Color vision defect, severe NOT_TRANSLATED -HP:0000551 Color vision defects NOT_TRANSLATED -HP:0000551 Colour vision defect NOT_TRANSLATED -HP:0000551 Colour vision defect, severe NOT_TRANSLATED -HP:0000551 Colour vision defects NOT_TRANSLATED -HP:0000551 Disturbed color vision NOT_TRANSLATED -HP:0000551 Loss in color vision NOT_TRANSLATED -HP:0000551 Loss in colour vision NOT_TRANSLATED -HP:0000552 Blue yellow color blindness NOT_TRANSLATED -HP:0000552 Blue yellow colour blindness NOT_TRANSLATED -HP:0000552 Blue-yellow dyschromatopsia NOT_TRANSLATED -HP:0000552 Blue/yellow color vision defect NOT_TRANSLATED -HP:0000552 Blue/yellow colour vision defect NOT_TRANSLATED -HP:0000552 Dyschromatopsia, blue-yellow NOT_TRANSLATED -HP:0000553 Abnormality of the uvea NOT_TRANSLATED -HP:0000555 Leukokoria NOT_TRANSLATED -HP:0000555 White pupillary reflex NOT_TRANSLATED -HP:0000556 Breakdown of light-sensitive cells in back of eye NOT_TRANSLATED -HP:0000557 Enlarged eyeball NOT_TRANSLATED -HP:0000561 Agenesis of eyelashes NOT_TRANSLATED -HP:0000561 Aplasia of eyelashes NOT_TRANSLATED -HP:0000561 Atrichia of eyelashes NOT_TRANSLATED -HP:0000561 Failure of development of eyelashes NOT_TRANSLATED -HP:0033329 Abnormal postural reaction NOT_TRANSLATED -HP:0000563 Bulging cornea NOT_TRANSLATED -HP:0000563 Conical cornea NOT_TRANSLATED -HP:0000564 Imperforate nasolacrimal ducts NOT_TRANSLATED -HP:0000564 Nasolacrimal duct atresia NOT_TRANSLATED -HP:0000564 Unopened tear duct NOT_TRANSLATED -HP:0000565 Inward turning cross eyed NOT_TRANSLATED -HP:0000567 Birth defect that causes a hole in the innermost layer at the back of the eye NOT_TRANSLATED -HP:0000567 Choroid coloboma NOT_TRANSLATED -HP:0000567 Choroidal coloboma NOT_TRANSLATED -HP:0000567 Choroidoretinal coloboma NOT_TRANSLATED -HP:0000567 Coloboma of choroid NOT_TRANSLATED -HP:0000568 Abnormally small eyeball NOT_TRANSLATED -HP:0000568 Abnormally small globe of eye NOT_TRANSLATED -HP:0000568 Decreased size of eyeball NOT_TRANSLATED -HP:0000568 Decreased size of globe of eye NOT_TRANSLATED -HP:0000568 Microphthalmos NOT_TRANSLATED -HP:0000568 Nanophthalmos NOT_TRANSLATED -HP:0033336 Failure of zygotic cell division NOT_TRANSLATED -HP:0000570 Abnormality of saccadic eye movements NOT_TRANSLATED -HP:0000570 Impaired saccades NOT_TRANSLATED -HP:0000572 Loss of vision NOT_TRANSLATED -HP:0000572 Vision loss NOT_TRANSLATED -HP:0000573 Retinal bleeding NOT_TRANSLATED -HP:0000573 Retinal haemorrhage NOT_TRANSLATED -HP:0000573 Retinal haemorrhages NOT_TRANSLATED -HP:0000573 Retinal hemorrhages NOT_TRANSLATED -HP:0033341 Elevated circulating beta-sitosterol concentration NOT_TRANSLATED -HP:0000574 Bushy eyebrows NOT_TRANSLATED -HP:0000574 Dense eyebrow NOT_TRANSLATED -HP:0000574 Heavy eyebrows NOT_TRANSLATED -HP:0000574 Hypertrichosis of the eyebrow NOT_TRANSLATED -HP:0000574 Hypertrichosis of the eyebrows NOT_TRANSLATED -HP:0000574 Prominent eyebrows NOT_TRANSLATED -HP:0000574 Thick eyebrows NOT_TRANSLATED -HP:0033342 Anti-AQP4 antibody positivity NOT_TRANSLATED -HP:0000575 Blind spot NOT_TRANSLATED -HP:0033343 Mucous diarrhea NOT_TRANSLATED -HP:0033343 Mucous diarrhoea NOT_TRANSLATED -HP:0000577 Outward facing eye ball NOT_TRANSLATED -HP:0033346 Psychic aura NOT_TRANSLATED -HP:0000579 Blocked tear duct NOT_TRANSLATED -HP:0000579 Lacrimal duct obstruction NOT_TRANSLATED -HP:0000580 Pigmentary retinal deposits NOT_TRANSLATED -HP:0000580 Retinal pigment clumping NOT_TRANSLATED -HP:0000580 Retinal pigmentary clumping NOT_TRANSLATED -HP:0000580 Retinal pigmentary degeneration NOT_TRANSLATED -HP:0000581 Decreased width of palpebral fissure NOT_TRANSLATED -HP:0000581 Narrow opening between the eyelids NOT_TRANSLATED -HP:0033349 Acute repetitive seizures NOT_TRANSLATED -HP:0033349 Crescendo seizures NOT_TRANSLATED -HP:0033349 Cyclical seizures NOT_TRANSLATED -HP:0033349 Recurrent seizures NOT_TRANSLATED -HP:0033349 Seizure flurries NOT_TRANSLATED -HP:0033349 Serial seizures NOT_TRANSLATED -HP:0000582 Mongoloid slant NOT_TRANSLATED -HP:0000582 Upslanted palpebral fissures NOT_TRANSLATED -HP:0000582 Upslanting palpebral fissures NOT_TRANSLATED -HP:0000582 Upward slanted palpebral fissures NOT_TRANSLATED -HP:0000582 Upward slanting of palpebral fissures NOT_TRANSLATED -HP:0000582 Upward slanting of the opening between the eyelids NOT_TRANSLATED -HP:0000582 Upward slanting palpebral fissures NOT_TRANSLATED -HP:0033350 Elevated FEV1 NOT_TRANSLATED -HP:0033351 Esophageal candidiasis NOT_TRANSLATED -HP:0033352 Pulmonary arterial hypertension crisis NOT_TRANSLATED -HP:0000585 Calcific band keratopathy NOT_TRANSLATED -HP:0000586 Decreased depth of eye sockets NOT_TRANSLATED -HP:0000586 Decreased depth of orbits NOT_TRANSLATED -HP:0000586 Shallow eye sockets NOT_TRANSLATED -HP:0000586 Small shallow orbits NOT_TRANSLATED -HP:0000587 optic nerve abnormalities NOT_TRANSLATED -HP:0000587 Optic nerve issue NOT_TRANSLATED -HP:0033355 Elevated urinary DPD NOT_TRANSLATED -HP:0000588 Coloboma of optic nerve NOT_TRANSLATED -HP:0000588 Optic disk coloboma NOT_TRANSLATED -HP:0000588 Optic nerve coloboma NOT_TRANSLATED -HP:0000589 Notched pupil NOT_TRANSLATED -HP:0000589 Ocular coloboma NOT_TRANSLATED -HP:0000589 Ocular colobomas NOT_TRANSLATED -HP:0000590 External ophthalmoplegia, progressive NOT_TRANSLATED -HP:0000591 Abnormality of the outer white part of eyeball NOT_TRANSLATED -HP:0000591 Abnormality of the sclera NOT_TRANSLATED -HP:0000592 Blue outer white part of eyeball NOT_TRANSLATED -HP:0000592 Blue sclera NOT_TRANSLATED -HP:0000592 Bluish sclerae NOT_TRANSLATED -HP:0000592 Gray sclerae NOT_TRANSLATED -HP:0000592 Grey sclerae NOT_TRANSLATED -HP:0000592 Whites of eyes are a bluish-gray color NOT_TRANSLATED -HP:0000592 Whites of eyes are a bluish-gray colour NOT_TRANSLATED -HP:0033360 Impaired task shifting NOT_TRANSLATED -HP:0000593 Abnormality of the anterior chamber NOT_TRANSLATED -HP:0000593 Anterior chamber anomalies NOT_TRANSLATED -HP:0000593 Ocular anterior chamber abnormality NOT_TRANSLATED -HP:0000597 Extraocular muscle palsy NOT_TRANSLATED -HP:0000597 Extraocular muscle paralysis NOT_TRANSLATED -HP:0000597 Weakness of extraocular eye movement NOT_TRANSLATED -HP:0000597 Weakness of muscles controlling eye movement NOT_TRANSLATED -HP:0000598 Ear anomaly NOT_TRANSLATED -HP:0000599 Abnormality of hairline at front of head NOT_TRANSLATED -HP:0000601 Abnormally close eyes NOT_TRANSLATED -HP:0000601 Closely spaced eyes NOT_TRANSLATED -HP:0000601 Decreased distance between eye sockets NOT_TRANSLATED -HP:0000601 Decreased distance between eyes NOT_TRANSLATED -HP:0000601 Decreased interpupillary distance NOT_TRANSLATED -HP:0000601 Decreased orbital separation NOT_TRANSLATED -HP:0000601 Ocular hypotelorism NOT_TRANSLATED -HP:0000602 Eye muscle paralysis NOT_TRANSLATED -HP:0000602 Paralysis of extraocular eye movement NOT_TRANSLATED -HP:0033370 Endobronchial telangiectasia NOT_TRANSLATED -HP:0000603 Blind spot located at fixation point NOT_TRANSLATED -HP:0000603 Central blind spot NOT_TRANSLATED -HP:0000603 Central scotomata NOT_TRANSLATED -HP:0000605 Supranuclear gaze paralysis NOT_TRANSLATED -HP:0000606 Abnormality of the region around the eye NOT_TRANSLATED -HP:0000606 Abnormality of the region around the eye socket NOT_TRANSLATED -HP:0000606 Anomaly of the periorbital region NOT_TRANSLATED -HP:0000606 Deformity of the periorbital region NOT_TRANSLATED -HP:0000606 Malformation of the periorbital region NOT_TRANSLATED -HP:0000607 Excess periorbital skin wrinkling NOT_TRANSLATED -HP:0000607 Periorbital rhytids NOT_TRANSLATED -HP:0000607 Periorbital wrinkling NOT_TRANSLATED -HP:0000607 Wrinkles around the eyes NOT_TRANSLATED -HP:0000608 Pigmented macular degeneration NOT_TRANSLATED -HP:0000609 Hypoplastic optic nerves NOT_TRANSLATED -HP:0000609 Underdeveloped optic nerves NOT_TRANSLATED -HP:0000610 Abnormality of the choroid NOT_TRANSLATED -HP:0000610 Choroid disease NOT_TRANSLATED -HP:0033379 Bilateral SVC NOT_TRANSLATED -HP:0000612 Cat eye NOT_TRANSLATED -HP:0000612 Coloboma of iris NOT_TRANSLATED -HP:0000612 Coloboma of the iris NOT_TRANSLATED -HP:0000612 Keyhole iris NOT_TRANSLATED -HP:0033380 Nose chondritis NOT_TRANSLATED -HP:0000613 Extreme sensitivity of the eyes to light NOT_TRANSLATED -HP:0000613 Light hypersensitivity NOT_TRANSLATED -HP:0000613 Photodysphoria NOT_TRANSLATED -HP:0000614 Abnormality of the nasolacrimal system NOT_TRANSLATED -HP:0000615 Abnormal pupillary morphology NOT_TRANSLATED -HP:0000615 Abnormality of the pupil NOT_TRANSLATED -HP:0000615 Pupillary abnormalities NOT_TRANSLATED -HP:0000615 Pupillary abnormality NOT_TRANSLATED -HP:0033383 Decreased CMAP amplitude NOT_TRANSLATED -HP:0000616 Constricted pupils NOT_TRANSLATED -HP:0000616 Pupillary constriction NOT_TRANSLATED -HP:0000617 Abnormal smooth pursuits NOT_TRANSLATED -HP:0000617 Disrupted ocular pursuit movements NOT_TRANSLATED -HP:0000617 Impaired smooth pursuit ocular movements NOT_TRANSLATED -HP:0000617 Irregular visual pursuit movements NOT_TRANSLATED -HP:0033385 Elevated urine hydroxylysyl-pyridinoline level NOT_TRANSLATED -HP:0000618 Legal blindness NOT_TRANSLATED -HP:0000618 Total vision loss NOT_TRANSLATED -HP:0000619 Convergence insufficiency NOT_TRANSLATED -HP:0000620 Dacrocystitis NOT_TRANSLATED -HP:0000620 Infection of the lacrimal sac NOT_TRANSLATED -HP:0000621 Eyelid folded in NOT_TRANSLATED -HP:0000621 Eyelid turned in NOT_TRANSLATED -HP:0000621 Inverted eyelid NOT_TRANSLATED -HP:0033390 Bronchial artery enlargement NOT_TRANSLATED -HP:0033390 Dilatation of a bronchial artery NOT_TRANSLATED -HP:0033392 Perivascular inflammation of arterioles in the pulmonary circulation NOT_TRANSLATED -HP:0033392 Perivascular inflammation of pre-capillary pulmonary arteries NOT_TRANSLATED -HP:0000625 Cleft eyelid NOT_TRANSLATED -HP:0000625 Full thickness defect of the eyelid NOT_TRANSLATED -HP:0000625 Notched eyelid NOT_TRANSLATED -HP:0033393 Sperm flagella with irregular caliber NOT_TRANSLATED -HP:0033393 Sperm flagella with irregular calibre NOT_TRANSLATED -HP:0000627 Embryotoxon NOT_TRANSLATED -HP:0000629 Fullness around the eyes NOT_TRANSLATED -HP:0000629 Periorbital puffiness NOT_TRANSLATED -HP:0000629 Periorbital swelling NOT_TRANSLATED -HP:0000629 Puffiness around eye NOT_TRANSLATED -HP:0000629 Puffy eyes NOT_TRANSLATED -HP:0000629 Swelling around the eyes NOT_TRANSLATED -HP:0000630 Abnormality of retinal arteries NOT_TRANSLATED -HP:0000630 Retinal arterial abnormality NOT_TRANSLATED -HP:0000631 Retinal artery tortuousity NOT_TRANSLATED -HP:0000632 Abnormality of tear production NOT_TRANSLATED -HP:0033400 Acute abdominal pain NOT_TRANSLATED -HP:0000633 Decreased tear secretion NOT_TRANSLATED -HP:0000635 Blue eyes NOT_TRANSLATED -HP:0000636 Cleft upper eyelid NOT_TRANSLATED -HP:0000636 Coloboma of the upper eyelid NOT_TRANSLATED -HP:0000636 Full thickness defect of the upper eyelid NOT_TRANSLATED -HP:0000636 Notched upper eyelid NOT_TRANSLATED -HP:0000636 Upper eyelid colobomas NOT_TRANSLATED -HP:0000637 Broad opening between the eyelids NOT_TRANSLATED -HP:0000637 Broad palpebral fissure NOT_TRANSLATED -HP:0000637 Long opening between the eyelids NOT_TRANSLATED -HP:0000637 Long palpebral fissures NOT_TRANSLATED -HP:0000637 Wide opening between the eyelids NOT_TRANSLATED -HP:0000637 Wide palpebral fissure NOT_TRANSLATED -HP:0000637 Wide palpebral fissures NOT_TRANSLATED -HP:0000639 Involuntary, rapid, rhythmic eye movements NOT_TRANSLATED -HP:0000641 Dysmetric eye movements NOT_TRANSLATED -HP:0000641 Dysmetric eye saccades NOT_TRANSLATED -HP:0000641 Uncoordinated eye movement NOT_TRANSLATED -HP:0000642 Dyschromatopsia with red-green confusion NOT_TRANSLATED -HP:0000642 Red green color blindness NOT_TRANSLATED -HP:0000642 Red green colour blindness NOT_TRANSLATED -HP:0000642 Red/green color vision defect NOT_TRANSLATED -HP:0000642 Red/green colour vision defect NOT_TRANSLATED -HP:0000643 Eyelid spasm NOT_TRANSLATED -HP:0000643 Eyelid twitching NOT_TRANSLATED -HP:0000643 Involuntary closure of eyelid NOT_TRANSLATED -HP:0000643 Spontaneous closure of eyelid NOT_TRANSLATED -HP:0033412 Akinesia of the upper extremities NOT_TRANSLATED -HP:0033413 Hypokinesia of the upper extremities NOT_TRANSLATED -HP:0000646 Lazy eye NOT_TRANSLATED -HP:0000646 Wandering eye NOT_TRANSLATED -HP:0000646 Wandering eyes NOT_TRANSLATED -HP:0033414 Hypokinesia of the lower extremities NOT_TRANSLATED -HP:0000647 Hardening of skin and connective tissue NOT_TRANSLATED -HP:0000648 Optic nerve atrophy NOT_TRANSLATED -HP:0000648 Optic-nerve degeneration NOT_TRANSLATED -HP:0000649 Abnormal vision evoked potentials NOT_TRANSLATED -HP:0000649 Abnormal visual evoked potential NOT_TRANSLATED -HP:0000649 Abnormal visual evoked responses NOT_TRANSLATED -HP:0000649 Abnormal visual-evoked potentials NOT_TRANSLATED -HP:0000649 VEP abnormalities NOT_TRANSLATED -HP:0000651 Double vision NOT_TRANSLATED -HP:0000652 Cleft lower eyelid NOT_TRANSLATED -HP:0000652 Coloboma of lower eyelid NOT_TRANSLATED -HP:0000652 Full thickness defect of the lower eyelid NOT_TRANSLATED -HP:0000652 Lower lid coloboma NOT_TRANSLATED -HP:0000652 Notched lower eyelid NOT_TRANSLATED -HP:0000653 Hypotrichosis of eyelashes NOT_TRANSLATED -HP:0000653 Partial absence of eyelashes NOT_TRANSLATED -HP:0000653 Scant eyelashes NOT_TRANSLATED -HP:0000653 Scanty eyelashes NOT_TRANSLATED -HP:0000653 Thin eyelashes NOT_TRANSLATED -HP:0000654 Decreased amplitudes on flash visual electroretinogram NOT_TRANSLATED -HP:0000654 Decreased electroretinogram NOT_TRANSLATED -HP:0000654 Decreased electroretinogram amplitude NOT_TRANSLATED -HP:0000654 Decreased electroretinogram response NOT_TRANSLATED -HP:0000654 Decreased ERG amplitude NOT_TRANSLATED -HP:0000654 Flattened or absent electroretinogram NOT_TRANSLATED -HP:0000654 Reduced electroretinogram NOT_TRANSLATED -HP:0000654 Reduced ERG NOT_TRANSLATED -HP:0000654 Reduced or abolished electroretinogram NOT_TRANSLATED -HP:0000656 Everted eyelid NOT_TRANSLATED -HP:0000656 Eyelid folded out NOT_TRANSLATED -HP:0000656 Eyelid turned out NOT_TRANSLATED -HP:0000657 Defective or absent horizontal voluntary eye movements NOT_TRANSLATED -HP:0000657 Ocular motor apraxia NOT_TRANSLATED -HP:0000658 Difficulty opening the eyelids NOT_TRANSLATED -HP:0033426 Venous air embolism NOT_TRANSLATED -HP:0000662 Difficulties with night vision NOT_TRANSLATED -HP:0000662 Night blindness NOT_TRANSLATED -HP:0000662 Night-blindness NOT_TRANSLATED -HP:0000662 Poor night vision NOT_TRANSLATED -HP:0033431 CMV colitis NOT_TRANSLATED -HP:0000664 Monobrow NOT_TRANSLATED -HP:0000664 Synophris NOT_TRANSLATED -HP:0000664 Unibrow NOT_TRANSLATED -HP:0033433 Ileo-cecal ulcer NOT_TRANSLATED -HP:0000666 Nystagmus, horizontal NOT_TRANSLATED -HP:0033434 Nasal-septum perforation NOT_TRANSLATED -HP:0033434 Perforation of the nasal septum NOT_TRANSLATED -HP:0000668 Failure of development of between one and six teeth NOT_TRANSLATED -HP:0000668 Missing between one and six teeth NOT_TRANSLATED -HP:0033437 Increased circulating alpha-ketoisocaproic acid concentration NOT_TRANSLATED -HP:0000670 Caries NOT_TRANSLATED -HP:0000670 Cariosity of teeth NOT_TRANSLATED -HP:0000670 Dental caries NOT_TRANSLATED -HP:0000670 Dental cavities NOT_TRANSLATED -HP:0000670 Dental decay NOT_TRANSLATED -HP:0000670 Early dental caries NOT_TRANSLATED -HP:0000670 Frequent caries NOT_TRANSLATED -HP:0000670 Rotting teeth NOT_TRANSLATED -HP:0000670 Tooth cavities NOT_TRANSLATED -HP:0000670 Tooth decay NOT_TRANSLATED -HP:0033439 Elevated circulating O-decenoylcarnitine concentration NOT_TRANSLATED -HP:0033439 Elevated plasma decenoylcarnitine, C10:1 NOT_TRANSLATED -HP:0033440 Elevated circulating O-octenoylcarnitine concentration NOT_TRANSLATED -HP:0033440 Elevated plasma octenoylcarnitine, C8:1 NOT_TRANSLATED -HP:0033441 Elevated circulating O-hexanoylcarnitine concentration NOT_TRANSLATED -HP:0033441 Elevated plasma hexanoylcarnitine, C6:0 NOT_TRANSLATED -HP:0000674 Anodontia vera NOT_TRANSLATED -HP:0000674 Complete agenesis of all teeth NOT_TRANSLATED -HP:0000674 Complete anodontia NOT_TRANSLATED -HP:0000674 Complete dental agenesis NOT_TRANSLATED -HP:0000674 Failure of development of all teeth NOT_TRANSLATED -HP:0000674 Missing all teeth NOT_TRANSLATED -HP:0000674 Total absence of all teeth NOT_TRANSLATED -HP:0000674 Total anodontia NOT_TRANSLATED -HP:0033442 Elevated circulating O-glutarylcarnitine concentration NOT_TRANSLATED -HP:0033442 Elevated plasma glutarylcarnitine, C5-DC NOT_TRANSLATED -HP:0000675 Hyperplasia of permanent maxillary central incisor NOT_TRANSLATED -HP:0000675 Hypertrophy of permanent maxillary central incisor NOT_TRANSLATED -HP:0000675 Increased size of permanent maxillary central incisor NOT_TRANSLATED -HP:0000675 Increased size of permanent upper central incisor NOT_TRANSLATED -HP:0000675 Increased width of permanent maxillary central incisor NOT_TRANSLATED -HP:0000675 Increased width of permanent upper central incisor NOT_TRANSLATED -HP:0000675 Large permanent maxillary central incisor NOT_TRANSLATED -HP:0000675 Large permanent upper central incisor NOT_TRANSLATED -HP:0000675 Long maxillary central incisors NOT_TRANSLATED -HP:0000675 Prominent upper incisors NOT_TRANSLATED -HP:0000675 Prominent, protruding upper incisors NOT_TRANSLATED -HP:0033444 Elevated circulating O-dodecanoylcarnitine concentration NOT_TRANSLATED -HP:0033444 Elevated plasma dodecanoylcarnitine, C12:0 NOT_TRANSLATED -HP:0000677 Failure of development of more than six teeth NOT_TRANSLATED -HP:0000677 Missing more than six teeth NOT_TRANSLATED -HP:0000677 Number of teeth decreased by more than six NOT_TRANSLATED -HP:0000677 Partial anodontia NOT_TRANSLATED -HP:0000678 Crowded teeth NOT_TRANSLATED -HP:0000678 Dental overcrowding NOT_TRANSLATED -HP:0000678 Inadequate arch length for tooth size NOT_TRANSLATED -HP:0000678 Overcrowding of teeth NOT_TRANSLATED -HP:0000678 Tooth mass arch size discrepancy NOT_TRANSLATED -HP:0000678 Tooth size discrepancy NOT_TRANSLATED -HP:0033446 Elevated circulating O-butyrylcarnitine concentration NOT_TRANSLATED -HP:0000679 Large elongated pulp chamber NOT_TRANSLATED -HP:0000679 Taurodont NOT_TRANSLATED -HP:0000679 Taurodontism NOT_TRANSLATED -HP:0033447 Elevated circulating O-isovalerylcarnitine concentration NOT_TRANSLATED -HP:0000680 Delayed eruption of baby teeth NOT_TRANSLATED -HP:0000680 Delayed eruption of deciduous teeth NOT_TRANSLATED -HP:0000680 Delayed eruption of milk teeth NOT_TRANSLATED -HP:0000680 Delayed primary teeth eruption NOT_TRANSLATED -HP:0000680 Late eruption of baby teeth NOT_TRANSLATED -HP:0000680 Late eruption of milk teeth NOT_TRANSLATED -HP:0000680 Late eruption of primary teeth NOT_TRANSLATED -HP:0000682 Abnormal tooth enamel NOT_TRANSLATED -HP:0000682 Abnormality of dental enamel NOT_TRANSLATED -HP:0000682 Defective tooth enamel NOT_TRANSLATED -HP:0000682 Dystrophic tooth enamel NOT_TRANSLATED -HP:0000682 Enamel abnormalities NOT_TRANSLATED -HP:0000682 Enamel abnormality NOT_TRANSLATED -HP:0000682 Malformation of dental enamel NOT_TRANSLATED -HP:0000682 Malformation of tooth enamel NOT_TRANSLATED -HP:0000683 Gray colored tooth enamel NOT_TRANSLATED -HP:0000683 Gray tooth shade NOT_TRANSLATED -HP:0000683 Grey coloured tooth enamel NOT_TRANSLATED -HP:0000683 Grey tooth shade NOT_TRANSLATED -HP:0000683 Greyish enamel NOT_TRANSLATED -HP:0000684 Delayed dental development NOT_TRANSLATED -HP:0000684 Delayed dental eruption NOT_TRANSLATED -HP:0000684 Delayed eruption NOT_TRANSLATED -HP:0000684 Delayed teeth eruption NOT_TRANSLATED -HP:0000684 Delayed tooth eruption NOT_TRANSLATED -HP:0000684 Eruption, delayed NOT_TRANSLATED -HP:0000684 Late eruption of teeth NOT_TRANSLATED -HP:0000684 Late tooth eruption NOT_TRANSLATED -HP:0000685 Decreased size of teeth NOT_TRANSLATED -HP:0000685 Hypoplastic teeth NOT_TRANSLATED -HP:0000685 Underdevelopment of teeth NOT_TRANSLATED -HP:0000687 Generalised dental spacing NOT_TRANSLATED -HP:0000687 Generalised spacing of teeth NOT_TRANSLATED -HP:0000687 Generalized dental spacing NOT_TRANSLATED -HP:0000687 Generalized spacing of teeth NOT_TRANSLATED -HP:0000687 Multiple diastemata NOT_TRANSLATED -HP:0000687 Wide-spaced teeth NOT_TRANSLATED -HP:0000687 Widely-spaced teeth NOT_TRANSLATED -HP:0000689 Angle class 2 malocclusion NOT_TRANSLATED -HP:0000689 Angle class 3 malocclusion NOT_TRANSLATED -HP:0000689 Bad bite NOT_TRANSLATED -HP:0000689 Bilateral crossbite NOT_TRANSLATED -HP:0000689 Bilateral crossbite malocclusion NOT_TRANSLATED -HP:0000689 Incorrect relation between upper and lower dental arches NOT_TRANSLATED -HP:0000689 Malalignment of upper and lower dental arches NOT_TRANSLATED -HP:0000689 Malocclusion NOT_TRANSLATED -HP:0000689 Malocclusion of teeth NOT_TRANSLATED -HP:0000689 Misalignment of upper and lower dental arches NOT_TRANSLATED -HP:0000689 Occlusion anomaly NOT_TRANSLATED -HP:0000690 Absence of maxillary lateral incisor NOT_TRANSLATED -HP:0000690 Absence of upper lateral incisor NOT_TRANSLATED -HP:0000690 Absent upper lateral incisors NOT_TRANSLATED -HP:0000690 Failure of development of maxillary lateral incisor NOT_TRANSLATED -HP:0000690 Missing maxillary lateral incisor NOT_TRANSLATED -HP:0000690 Missing upper lateral incisor NOT_TRANSLATED -HP:0033458 Increased urine alpha-ketoisocaproic acid level NOT_TRANSLATED -HP:0000691 Decreased size of tooth NOT_TRANSLATED -HP:0000691 Decreased width of tooth NOT_TRANSLATED -HP:0000691 Hypotrophic tooth NOT_TRANSLATED -HP:0000691 Small teeth NOT_TRANSLATED -HP:0000691 Small tooth NOT_TRANSLATED -HP:0000691 Tooth hypoplasia NOT_TRANSLATED -HP:0000691 Tooth hypotrophy NOT_TRANSLATED -HP:0000691 Underdeveloped tooth NOT_TRANSLATED -HP:0033459 Decreased apolipoprotein level NOT_TRANSLATED -HP:0000692 Abnormal dental position NOT_TRANSLATED -HP:0000692 Abnormal teeth spacing NOT_TRANSLATED -HP:0000692 Abnormality of alignment of teeth NOT_TRANSLATED -HP:0000692 Abnormality of position of teeth NOT_TRANSLATED -HP:0000692 Abnormality of teeth spacing NOT_TRANSLATED -HP:0000692 Crooked teeth NOT_TRANSLATED -HP:0000692 Malaligned teeth NOT_TRANSLATED -HP:0000692 Malposition of teeth NOT_TRANSLATED -HP:0000692 Malpositioned teeth NOT_TRANSLATED -HP:0000692 Misalignment of teeth NOT_TRANSLATED -HP:0000692 Teeth, malposition NOT_TRANSLATED -HP:0033461 Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH NOT_TRANSLATED -HP:0000694 Ghost teeth NOT_TRANSLATED -HP:0000694 Shell teeth NOT_TRANSLATED -HP:0000694 Teeth with dentinal dysplasia NOT_TRANSLATED -HP:0000694 Teeth with thin dentin and large pulp chambers NOT_TRANSLATED -HP:0000694 Teeth with type iii dentinogenesis imperfecta NOT_TRANSLATED -HP:0033462 Elevated plasma oleylcarnitine, C18:1 NOT_TRANSLATED -HP:0000695 Born with teeth NOT_TRANSLATED -HP:0000695 Natal teeth NOT_TRANSLATED -HP:0000695 Neonatal teeth NOT_TRANSLATED -HP:0000695 Teeth present at birth NOT_TRANSLATED -HP:0000696 Delayed eruption of adult teeth NOT_TRANSLATED -HP:0000696 Delayed eruption of secondary dentition NOT_TRANSLATED -HP:0000696 Delayed eruption of secondary teeth NOT_TRANSLATED -HP:0000696 Delayed permanent dentition NOT_TRANSLATED -HP:0033464 Elevated circulating 3-OH-palmitoleylcarnitine concentration NOT_TRANSLATED -HP:0033464 Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH NOT_TRANSLATED -HP:0033465 Elevated circulating C14 carnitine concentration NOT_TRANSLATED -HP:0033465 Elevated circulating myristoylcarnitine concentration NOT_TRANSLATED -HP:0000698 Cone shaped tooth NOT_TRANSLATED -HP:0000698 Conical teeth NOT_TRANSLATED -HP:0000698 Conoid tooth NOT_TRANSLATED -HP:0000698 Peg shaped teeth NOT_TRANSLATED -HP:0000698 Peg shaped tooth NOT_TRANSLATED -HP:0000698 Peg tooth NOT_TRANSLATED -HP:0000698 Peg-shaped teeth NOT_TRANSLATED -HP:0000698 Pointed tooth NOT_TRANSLATED -HP:0000698 Shark tooth NOT_TRANSLATED -HP:0000699 Dental diastasis NOT_TRANSLATED -HP:0000699 Dental diastema NOT_TRANSLATED -HP:0000699 Diastasis of the teeth NOT_TRANSLATED -HP:0000699 Diastema of the teeth NOT_TRANSLATED -HP:0000699 Gap between teeth NOT_TRANSLATED -HP:0000699 Gaps between teeth NOT_TRANSLATED -HP:0000700 Bone loss around tooth root NOT_TRANSLATED -HP:0000700 Dark spot around tooth root on x-ray NOT_TRANSLATED -HP:0000700 Periapical cyst NOT_TRANSLATED -HP:0000700 Periapical granuloma NOT_TRANSLATED -HP:0000700 Periapical lesion NOT_TRANSLATED -HP:0000700 Periapical radiolucencies NOT_TRANSLATED -HP:0000700 Periapical radiolucency NOT_TRANSLATED -HP:0000704 Gum disease NOT_TRANSLATED -HP:0000704 Periodontal disease NOT_TRANSLATED -HP:0000704 Pyorrhea NOT_TRANSLATED -HP:0000706 Failure of eruption of tooth NOT_TRANSLATED -HP:0000706 Pseudo-anodontia NOT_TRANSLATED -HP:0000706 Pseudoanodontia NOT_TRANSLATED -HP:0000706 Unerupted dentition NOT_TRANSLATED -HP:0000706 Unerupted tooth NOT_TRANSLATED -HP:0000707 Brain and/or spinal cord issue NOT_TRANSLATED -HP:0000707 Neurologic abnormalities NOT_TRANSLATED -HP:0000707 Neurological abnormality NOT_TRANSLATED -HP:0000708 Behavioral changes NOT_TRANSLATED -HP:0000708 Behavioral disorders NOT_TRANSLATED -HP:0000708 Behavioral disturbances NOT_TRANSLATED -HP:0000708 Behavioral problems NOT_TRANSLATED -HP:0000708 Behavioral symptoms NOT_TRANSLATED -HP:0000708 Behavioral/psychiatric abnormalities NOT_TRANSLATED -HP:0000708 Behavioural abnormality NOT_TRANSLATED -HP:0000708 Behavioural changes NOT_TRANSLATED -HP:0000708 Behavioural disorders NOT_TRANSLATED -HP:0000708 Behavioural disturbances NOT_TRANSLATED -HP:0000708 Behavioural problems NOT_TRANSLATED -HP:0000708 Behavioural symptoms NOT_TRANSLATED -HP:0000708 Behavioural/Psychiatric abnormality NOT_TRANSLATED -HP:0000708 Psychiatric disorders NOT_TRANSLATED -HP:0000708 Psychiatric disturbances NOT_TRANSLATED -HP:0000710 Hyperoralia NOT_TRANSLATED -HP:0033478 Elevated lipoprotein lipase level NOT_TRANSLATED -HP:0000712 Emotional instability NOT_TRANSLATED -HP:0000712 Mood alterations NOT_TRANSLATED -HP:0000712 Mood changes NOT_TRANSLATED -HP:0000712 Mood lability NOT_TRANSLATED -HP:0000712 Mood swings NOT_TRANSLATED -HP:0000716 Depressive disorder NOT_TRANSLATED -HP:0000716 Depressivity NOT_TRANSLATED -HP:0033484 Elevated plasma linoleylcarnitine, C18:2 NOT_TRANSLATED -HP:0033485 Disruption of the glomerular basement membrane NOT_TRANSLATED -HP:0033485 Glomerular basement membrane rupture NOT_TRANSLATED -HP:0000718 Aggression NOT_TRANSLATED -HP:0000718 Aggressive behaviour NOT_TRANSLATED -HP:0000718 Aggressiveness NOT_TRANSLATED -HP:0000718 physical aggression NOT_TRANSLATED -HP:0000719 Inappropriate behaviour NOT_TRANSLATED -HP:0033487 Glomerular basement membranes with powdery deposit NOT_TRANSLATED -HP:0033488 Glomerular endocapillary hypercellularity consisting of leukocytes NOT_TRANSLATED -HP:0000722 Obsessive compulsive behavior NOT_TRANSLATED -HP:0000722 Obsessive compulsive behaviour NOT_TRANSLATED -HP:0000722 Obsessive compulsive disorder NOT_TRANSLATED -HP:0000722 Obsessive-compulsive behaviour NOT_TRANSLATED -HP:0000722 Obsessive-compulsive disorder NOT_TRANSLATED -HP:0000722 OCD NOT_TRANSLATED -HP:0000723 Restricted behavior NOT_TRANSLATED -HP:0000723 Restricted behaviour NOT_TRANSLATED -HP:0000723 Restrictive behavior, interests, and activities NOT_TRANSLATED -HP:0000723 Restrictive behaviour NOT_TRANSLATED -HP:0033493 Increased glomerular mesangial matrix NOT_TRANSLATED -HP:0000726 Dementia, progressive NOT_TRANSLATED -HP:0000726 Progressive dementia NOT_TRANSLATED -HP:0033496 Segmental glomerulosclerosis, perihilar pattern NOT_TRANSLATED -HP:0000729 ASD NOT_TRANSLATED -HP:0000729 Autism spectrum disorder NOT_TRANSLATED -HP:0000729 Autism spectrum disorders NOT_TRANSLATED -HP:0000729 Autistic behaviors NOT_TRANSLATED -HP:0000729 Autistic behaviour NOT_TRANSLATED -HP:0000729 Autistic behaviours NOT_TRANSLATED -HP:0000729 Pervasive developmental disorder NOT_TRANSLATED -HP:0033497 Segmental glomerulosclerosis, tip variant NOT_TRANSLATED -HP:0000733 Repetitive movements NOT_TRANSLATED -HP:0000733 Repetitive or self-injurious behavior NOT_TRANSLATED -HP:0000733 Repetitive or self-injurious behaviour NOT_TRANSLATED -HP:0000733 Stereotyped behavior NOT_TRANSLATED -HP:0000733 Stereotyped behaviors NOT_TRANSLATED -HP:0000733 Stereotyped behaviour NOT_TRANSLATED -HP:0000733 Stereotyped behaviours NOT_TRANSLATED -HP:0000733 Stereotyped, repetitive behavior NOT_TRANSLATED -HP:0000733 Stereotyped, repetitive behaviour NOT_TRANSLATED -HP:0000733 Stereotypic behavior NOT_TRANSLATED -HP:0000733 Stereotypic behaviors NOT_TRANSLATED -HP:0000733 Stereotypic behaviour NOT_TRANSLATED -HP:0000733 Stereotypic behaviours NOT_TRANSLATED -HP:0000733 Stereotypical motor behavior NOT_TRANSLATED -HP:0000733 Stereotypical motor behaviors NOT_TRANSLATED -HP:0000733 Stereotypical motor behaviours NOT_TRANSLATED -HP:0000735 Impaired social interaction NOT_TRANSLATED -HP:0000735 Poor social interactions NOT_TRANSLATED -HP:0000736 Easily distracted NOT_TRANSLATED -HP:0000736 Poor attention span NOT_TRANSLATED -HP:0000736 Problem paying attention NOT_TRANSLATED -HP:0000737 Irritable NOT_TRANSLATED -HP:0000738 Hallucination NOT_TRANSLATED -HP:0000738 Sensory hallucination NOT_TRANSLATED -HP:0000739 Anxiety disease NOT_TRANSLATED -HP:0000739 Anxiousness NOT_TRANSLATED -HP:0000739 Excessive, persistent worry and fear NOT_TRANSLATED -HP:0033508 Epstein-Barr virus meningitis NOT_TRANSLATED -HP:0000741 Lack of feeling, emotion, interest NOT_TRANSLATED -HP:0033509 Epstein-Barr virus encephalitis NOT_TRANSLATED -HP:0000742 Deliberate self-harm NOT_TRANSLATED -HP:0000742 Self mutilation NOT_TRANSLATED -HP:0033510 Cornu cutaneum NOT_TRANSLATED -HP:0000743 Frontal release reflexes NOT_TRANSLATED -HP:0000744 Intolerance to frustration NOT_TRANSLATED -HP:0033512 Stimulant dependence NOT_TRANSLATED -HP:0000745 Lack of initiative NOT_TRANSLATED -HP:0000745 Lack of motivation NOT_TRANSLATED -HP:0000745 Lacking in initiative NOT_TRANSLATED -HP:0000745 Lacks initiative NOT_TRANSLATED -HP:0033513 Cocaine dependence NOT_TRANSLATED -HP:0033514 Amphetamine dependence NOT_TRANSLATED -HP:0033514 Dextroamphetamine addiction NOT_TRANSLATED -HP:0033514 Dextroamphetamine dependence NOT_TRANSLATED -HP:0033515 Opioid dependence NOT_TRANSLATED -HP:0033516 Benzodiazepine dependence NOT_TRANSLATED -HP:0000749 Paroxysmal laughter NOT_TRANSLATED -HP:0033517 Heroin dependence NOT_TRANSLATED -HP:0000750 Deficiency of speech development NOT_TRANSLATED -HP:0000750 Delayed language development NOT_TRANSLATED -HP:0000750 Delayed speech NOT_TRANSLATED -HP:0000750 Delayed speech acquisition NOT_TRANSLATED -HP:0000750 Delayed speech development NOT_TRANSLATED -HP:0000750 Impaired speech and language development NOT_TRANSLATED -HP:0000750 Impaired speech development NOT_TRANSLATED -HP:0000750 Language delay NOT_TRANSLATED -HP:0000750 Language delayed NOT_TRANSLATED -HP:0000750 Language development deficit NOT_TRANSLATED -HP:0000750 Late-onset speech development NOT_TRANSLATED -HP:0000750 Poor language development NOT_TRANSLATED -HP:0000750 Poor speech acquisition NOT_TRANSLATED -HP:0000750 Poor speech development NOT_TRANSLATED -HP:0000750 Speech and language delay NOT_TRANSLATED -HP:0000750 Speech and language difficulties NOT_TRANSLATED -HP:0000750 Speech delay NOT_TRANSLATED -HP:0000750 Speech difficulties NOT_TRANSLATED -HP:0033518 Methylphenidate dependence NOT_TRANSLATED -HP:0000751 Personality change NOT_TRANSLATED -HP:0033519 Methamphetamine dependence NOT_TRANSLATED -HP:0000752 Hyperactive behavior NOT_TRANSLATED -HP:0000752 Hyperactive behaviour NOT_TRANSLATED -HP:0000752 More active than typical NOT_TRANSLATED -HP:0000756 Fear of open spaces NOT_TRANSLATED -HP:0033525 Absent central pair complex (9+0 pattern) NOT_TRANSLATED -HP:0000758 Impaired use of nonverbal behaviors NOT_TRANSLATED -HP:0000758 Impaired use of nonverbal behaviours NOT_TRANSLATED -HP:0033526 Heel cord tightness NOT_TRANSLATED -HP:0033526 Tight heel cord NOT_TRANSLATED -HP:0000759 Abnormal peripheral nervous system structure NOT_TRANSLATED -HP:0000759 Peripheral nervous system disease NOT_TRANSLATED -HP:0033527 Decreased plasma testosterone-to-androstenedione ratio NOT_TRANSLATED -HP:0000762 Decreased NCV NOT_TRANSLATED -HP:0000762 Decreased nerve conduction velocities NOT_TRANSLATED -HP:0000762 Delayed nerve conduction velocity NOT_TRANSLATED -HP:0000762 Reduced nerve conduction velocities NOT_TRANSLATED -HP:0000762 Slow nerve conduction velocity NOT_TRANSLATED -HP:0000762 Slowed nerve conduction velocities NOT_TRANSLATED -HP:0000763 Damage to nerves that sense feeling NOT_TRANSLATED -HP:0000763 Peripheral sensory neuropathy NOT_TRANSLATED -HP:0000765 Abnormality of the chest NOT_TRANSLATED -HP:0000765 Abnormality of the thorax NOT_TRANSLATED -HP:0000765 Structural abnormality of the chest wall NOT_TRANSLATED -HP:0000766 Abnormality of the sternum NOT_TRANSLATED -HP:0000766 Pectus carinatum or pectus excavatum NOT_TRANSLATED -HP:0000766 Pectus deformities NOT_TRANSLATED -HP:0000766 Pectus deformity NOT_TRANSLATED -HP:0000766 Pectus excavatum or carinatum NOT_TRANSLATED -HP:0000766 Pectus excavatum or pectus carinatum NOT_TRANSLATED -HP:0000766 Pectus excavatum/carinatum NOT_TRANSLATED -HP:0000766 Sternal anomalies NOT_TRANSLATED -HP:0033534 Elevated circulating BNP concentration NOT_TRANSLATED -HP:0033534 Increased B-type natriuretic peptide NOT_TRANSLATED -HP:0033534 Increased ventricular natriuretic peptide NOT_TRANSLATED -HP:0000767 Funnel chest NOT_TRANSLATED -HP:0000768 Pigeon chest NOT_TRANSLATED -HP:0033538 Aortic annular calcification NOT_TRANSLATED -HP:0000771 Enlarged male breast NOT_TRANSLATED -HP:0000771 Gynaecomastia NOT_TRANSLATED -HP:0000772 Abnormality of the ribs NOT_TRANSLATED -HP:0000772 Rib abnormalities NOT_TRANSLATED -HP:0000772 Rib anomalies NOT_TRANSLATED -HP:0033540 Reversible pulmonary obstruction NOT_TRANSLATED -HP:0000773 Hypoplastic ribs NOT_TRANSLATED -HP:0000773 Rib hypoplasia NOT_TRANSLATED -HP:0033541 Irreversible pulmonary obstruction NOT_TRANSLATED -HP:0000774 Low chest circumference NOT_TRANSLATED -HP:0000774 Narrow shoulders NOT_TRANSLATED -HP:0000774 Narrow thorax NOT_TRANSLATED -HP:0000774 Reduced anterior-posterior chest diameter NOT_TRANSLATED -HP:0033542 Peribronchial cuffing NOT_TRANSLATED -HP:0033542 Peribronchial thickening NOT_TRANSLATED -HP:0000775 Diaphragm issues NOT_TRANSLATED -HP:0000775 Diaphragmatic defect NOT_TRANSLATED -HP:0033543 Nicotine dependence NOT_TRANSLATED -HP:0000776 Diaphragmatic hernia NOT_TRANSLATED -HP:0000778 Small thymus NOT_TRANSLATED -HP:0000778 Thymic hypoplasia NOT_TRANSLATED -HP:0000778 Thymus hypoplasia NOT_TRANSLATED -HP:0000782 Abnormality of the shoulder blade NOT_TRANSLATED -HP:0033550 Caseating pulmonary granulomatosis NOT_TRANSLATED -HP:0033551 Non-caseating pulmonary granulomatosis NOT_TRANSLATED -HP:0033552 Chronic villitis (non-infectious) NOT_TRANSLATED -HP:0033552 Nonspecific chronic villitis NOT_TRANSLATED -HP:0033552 Villitis of unknown aetiology NOT_TRANSLATED -HP:0033552 Villitis of unknown etiology NOT_TRANSLATED -HP:0033553 Septic emboli NOT_TRANSLATED -HP:0000787 Kidney stones NOT_TRANSLATED -HP:0000787 Renal calculi NOT_TRANSLATED -HP:0000787 Renal stones NOT_TRANSLATED -HP:0033555 Anti-Ro/SSA antibody positivity NOT_TRANSLATED -HP:0033556 Anti-p62 antibody positivity NOT_TRANSLATED -HP:0033557 Anti-PR3 antibody positivity NOT_TRANSLATED -HP:0000790 Blood in urine NOT_TRANSLATED -HP:0000790 High urine occult blood NOT_TRANSLATED -HP:0000791 Uric acid stones NOT_TRANSLATED -HP:0000791 Uric acid urolithiasis NOT_TRANSLATED -HP:0033559 Anti-MPO antibody positivity NOT_TRANSLATED -HP:0033560 Anti-PM/Scl antibody positivity NOT_TRANSLATED -HP:0000793 Mesangiocapillary glomerulonephritis NOT_TRANSLATED -HP:0000793 MPGN NOT_TRANSLATED -HP:0033561 Anti-BPI antibody positivity NOT_TRANSLATED -HP:0000794 IgA nephropathy NOT_TRANSLATED -HP:0033562 Anti-gp210 antibody positivity NOT_TRANSLATED -HP:0000795 Urethra issue NOT_TRANSLATED -HP:0033563 Anti-tTG antibody positivity NOT_TRANSLATED -HP:0033564 Varicose eczema NOT_TRANSLATED -HP:0033564 Venous eczema NOT_TRANSLATED -HP:0033565 Anti-epidermal transglutaminase (anti-eTG) antibody NOT_TRANSLATED -HP:0033565 Anti-eTG antibody positivity NOT_TRANSLATED -HP:0033565 Anti-keratinocyte transglutaminase NOT_TRANSLATED -HP:0033565 Anti-TG3 antibody NOT_TRANSLATED -HP:0000798 Low sperm count NOT_TRANSLATED -HP:0033566 Abnormal QRS axis NOT_TRANSLATED -HP:0000799 Fatty kidney NOT_TRANSLATED -HP:0033567 Electrical right axis deviation NOT_TRANSLATED -HP:0033567 RAD NOT_TRANSLATED -HP:0000800 Bilateral cystic dysplasia NOT_TRANSLATED -HP:0000800 Renal cystic dysplasia NOT_TRANSLATED -HP:0000800 Renal dysplasia, cystic NOT_TRANSLATED -HP:0033568 Electrical left axis deviation NOT_TRANSLATED -HP:0000802 Difficulty getting a full erection NOT_TRANSLATED -HP:0000802 Difficulty getting an erection NOT_TRANSLATED -HP:0000803 Cortical cysts NOT_TRANSLATED -HP:0000804 Urinary xanthine stones NOT_TRANSLATED -HP:0000804 Xanthine stones NOT_TRANSLATED -HP:0033578 Precapillary pulmonary hypertension NOT_TRANSLATED -HP:0033579 Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge NOT_TRANSLATED -HP:0000813 Heart shaped uterus NOT_TRANSLATED -HP:0000813 Heart-shaped uterus NOT_TRANSLATED -HP:0000813 Uterus bicornis NOT_TRANSLATED -HP:0000815 Hypergonadotrophic hypogonadism NOT_TRANSLATED -HP:0000815 Primary hypogonadism NOT_TRANSLATED -HP:0000816 Abnormality of citric acid cycle NOT_TRANSLATED -HP:0000816 Abnormality of the tricarboxylic cycle NOT_TRANSLATED -HP:0033584 Nonspecific interstitial pneumonitis NOT_TRANSLATED -HP:0033584 NSIP NOT_TRANSLATED -HP:0033584 Temporally uniform pulmonary inflammation NOT_TRANSLATED -HP:0000818 Endocrine system disease NOT_TRANSLATED -HP:0000820 Thyroid abnormality NOT_TRANSLATED -HP:0000820 Thyroid disease NOT_TRANSLATED -HP:0033588 Labial agglutination NOT_TRANSLATED -HP:0033588 Synechia vulvae NOT_TRANSLATED -HP:0000821 Low T4 NOT_TRANSLATED -HP:0000821 Underactive thyroid NOT_TRANSLATED -HP:0000822 Arterial hypertension NOT_TRANSLATED -HP:0000822 High blood pressure NOT_TRANSLATED -HP:0000822 Systemic hypertension NOT_TRANSLATED -HP:0033590 Groin abscess NOT_TRANSLATED -HP:0000823 Delayed pubertal development NOT_TRANSLATED -HP:0000823 Delayed pubertal growth NOT_TRANSLATED -HP:0000823 Pubertal delay NOT_TRANSLATED -HP:0033591 Staghorn renal stone NOT_TRANSLATED -HP:0000824 Growth hormone deficiency NOT_TRANSLATED -HP:0000824 Somatotropin deficiency NOT_TRANSLATED -HP:0000825 Hyperinsulinaemic hypoglycaemia NOT_TRANSLATED -HP:0000825 Hyperinsulinemia hypoglycemia NOT_TRANSLATED -HP:0000826 Early onset of puberty NOT_TRANSLATED -HP:0000826 Early puberty NOT_TRANSLATED -HP:0033594 Primapterinuria NOT_TRANSLATED -HP:0033595 Elevated circulating ceramidetrihexoside concentration NOT_TRANSLATED -HP:0000828 Parathyroid disease NOT_TRANSLATED -HP:0000829 Decreased parathyroid hormone secretion NOT_TRANSLATED -HP:0000829 Low parathyroid hormone NOT_TRANSLATED -HP:0000831 Insulin resistant diabetes NOT_TRANSLATED -HP:0000831 Insulin resistant diabetes mellitus NOT_TRANSLATED -HP:0000831 Insulin-resistant diabetes NOT_TRANSLATED -HP:0000834 Adrenal abnormalities NOT_TRANSLATED -HP:0000834 Adrenal gland disease NOT_TRANSLATED -HP:0000835 Adrenal gland hypoplasia NOT_TRANSLATED -HP:0000835 Hypoplastic adrenal glands NOT_TRANSLATED -HP:0000835 Small adrenal glands NOT_TRANSLATED -HP:0000835 Underdeveloped adrenal glands NOT_TRANSLATED -HP:0000836 Overactive thyroid NOT_TRANSLATED -HP:0000837 Elevated gonadotropins NOT_TRANSLATED -HP:0000837 Elevated serum gonadotropins NOT_TRANSLATED -HP:0000837 Gonadotropin excess NOT_TRANSLATED -HP:0033605 Pustulosis NOT_TRANSLATED -HP:0033606 Haematopoietic maturation arrest NOT_TRANSLATED -HP:0033606 Hematopoietic maturation arrest NOT_TRANSLATED -HP:0033608 Spot on the lung NOT_TRANSLATED -HP:0000841 Increased plasma renin activity NOT_TRANSLATED -HP:0000842 Elevated insulin level NOT_TRANSLATED -HP:0000843 Elevated blood parathyroid hormone level NOT_TRANSLATED -HP:0000845 Elevated circulating somatotropin concentration NOT_TRANSLATED -HP:0000845 Growth hormone excess NOT_TRANSLATED -HP:0000845 Somatotropin excess NOT_TRANSLATED -HP:0000846 Hypoadrenalism NOT_TRANSLATED -HP:0000847 Abnormality of the renin-aldosterone axis NOT_TRANSLATED -HP:0000848 Elevated blood renin level NOT_TRANSLATED -HP:0000848 Elevated plasma renin NOT_TRANSLATED -HP:0000848 Hyperreninemia NOT_TRANSLATED -HP:0000848 Increased plasma renin NOT_TRANSLATED -HP:0000848 Increased serum renin NOT_TRANSLATED -HP:0033618 Bronchus suis NOT_TRANSLATED -HP:0033618 Pig bronchus NOT_TRANSLATED -HP:0000851 Hypothyroidism, congenital NOT_TRANSLATED -HP:0000851 Underactive thyroid gland from birth NOT_TRANSLATED -HP:0000853 Enlarged thyroid gland in neck NOT_TRANSLATED -HP:0000853 Goitre NOT_TRANSLATED -HP:0000853 Thyroid goiter NOT_TRANSLATED -HP:0000853 Thyroid goitre NOT_TRANSLATED -HP:0000855 Body fails to respond to insulin NOT_TRANSLATED -HP:0033624 History of congenital cytomegalovirus infection NOT_TRANSLATED -HP:0000858 Irregular menses NOT_TRANSLATED -HP:0000858 Irregular periods NOT_TRANSLATED -HP:0000858 Menstrual irregularities NOT_TRANSLATED -HP:0000858 Menstrual irregularity NOT_TRANSLATED -HP:0033626 Elevated non-HDL cholesterol concentration NOT_TRANSLATED -HP:0000859 Elevated plasma aldosterone NOT_TRANSLATED -HP:0000859 Increased aldosterone NOT_TRANSLATED -HP:0000859 Increased aldosterone production NOT_TRANSLATED -HP:0000859 Mineralocorticoid excess NOT_TRANSLATED -HP:0000860 Small parathyroid glands NOT_TRANSLATED -HP:0000860 Underdeveloped parathyroid glands NOT_TRANSLATED -HP:0033630 Mental clouding NOT_TRANSLATED -HP:0033630 Mental fatigue NOT_TRANSLATED -HP:0033630 Mental fog NOT_TRANSLATED -HP:0000863 Neurohypophyseal diabetes insipidus NOT_TRANSLATED -HP:0000866 Euthyroid multinodular goitre NOT_TRANSLATED -HP:0033635 Postcapillary pulmonary hypertension NOT_TRANSLATED -HP:0000868 Reduced fertility in females NOT_TRANSLATED -HP:0000869 Previous menstrual periods stop NOT_TRANSLATED -HP:0033637 Anti-transglutaminase 2 antibody positivity NOT_TRANSLATED -HP:0000870 Hyperprolactinaemia NOT_TRANSLATED -HP:0000870 Hyperprolactinemia NOT_TRANSLATED -HP:0000870 Prolactin excess NOT_TRANSLATED -HP:0033638 Intralobular lines NOT_TRANSLATED -HP:0033639 Septic pulmonary emboli NOT_TRANSLATED -HP:0000872 Chronic lymphocytic thyroiditis NOT_TRANSLATED -HP:0000872 Hashimoto's thyroiditis NOT_TRANSLATED -HP:0033641 Aortic cusp calcification NOT_TRANSLATED -HP:0033641 Aortic valve cusp calcification NOT_TRANSLATED -HP:0000875 Intermittent high blood pressure NOT_TRANSLATED -HP:0033643 Increased plasma levels of very long-chain fatty acid NOT_TRANSLATED -HP:0000876 Light or infrequent menstrual periods NOT_TRANSLATED -HP:0033644 Elevated circulating erythropoietin NOT_TRANSLATED -HP:0033646 Agenesis of the hippocampal commissure NOT_TRANSLATED -HP:0000879 Hypoplastic sternum NOT_TRANSLATED -HP:0033649 Distal acinar emphysema NOT_TRANSLATED -HP:0000882 Hypoplastic scapula NOT_TRANSLATED -HP:0000882 Scapular hypoplasia NOT_TRANSLATED -HP:0000882 Short scapulae NOT_TRANSLATED -HP:0000882 Small scapula NOT_TRANSLATED -HP:0000882 Small scapulae NOT_TRANSLATED -HP:0000882 Small shoulder blade NOT_TRANSLATED -HP:0000883 Slender ribs NOT_TRANSLATED -HP:0033651 Lung fungus ball NOT_TRANSLATED -HP:0000884 Sternal protrusion NOT_TRANSLATED -HP:0000885 Wide ribs NOT_TRANSLATED -HP:0000887 Rib cupping NOT_TRANSLATED -HP:0000887 Rib flaring NOT_TRANSLATED -HP:0033655 Pulmonary cavern NOT_TRANSLATED -HP:0000889 Abnormal clavicles NOT_TRANSLATED -HP:0000889 Abnormal collarbone NOT_TRANSLATED -HP:0000889 Abnormality of the clavicle NOT_TRANSLATED -HP:0033657 Discoid atelectasis NOT_TRANSLATED -HP:0033657 Platelike atelectasis NOT_TRANSLATED -HP:0000890 Elongated clavicles NOT_TRANSLATED -HP:0000890 Long collarbone NOT_TRANSLATED -HP:0033658 Blesovsky syndrome NOT_TRANSLATED -HP:0033658 Comet tail sign NOT_TRANSLATED -HP:0033658 Folded lung syndrome NOT_TRANSLATED -HP:0033658 Helical atelectasis NOT_TRANSLATED -HP:0033658 Pleural pseudotumor NOT_TRANSLATED -HP:0033658 Pleuroma NOT_TRANSLATED -HP:0000892 Cleft ribs NOT_TRANSLATED -HP:0000892 Split ribs NOT_TRANSLATED -HP:0033660 Hand tingling NOT_TRANSLATED -HP:0000894 Clavicular hypoplasia NOT_TRANSLATED -HP:0000894 Hypoplastic clavicles NOT_TRANSLATED -HP:0000894 Short collarbone NOT_TRANSLATED -HP:0000894 Underdeveloped clavicles NOT_TRANSLATED -HP:0000895 Handlebar clavicle NOT_TRANSLATED -HP:0000895 Hook-shaped clavicle NOT_TRANSLATED -HP:0000895 Hook-shaped collarbone NOT_TRANSLATED -HP:0000895 Hooked clavicle NOT_TRANSLATED -HP:0033666 Decline in physical functional health NOT_TRANSLATED -HP:0033666 Diminished physical health NOT_TRANSLATED -HP:0033667 Mental impairment NOT_TRANSLATED -HP:0033667 Reduced mental health NOT_TRANSLATED -HP:0033668 Abnormal morphology of the amygdala NOT_TRANSLATED -HP:0033669 Amygdalar enlargement NOT_TRANSLATED -HP:0000902 Fused ribs NOT_TRANSLATED -HP:0000904 Anterior flaring of ribs NOT_TRANSLATED -HP:0033672 Positive carpal Hoffmann Tinel sign NOT_TRANSLATED -HP:0000905 Progressive acroosteolysis of the clavicle NOT_TRANSLATED -HP:0033673 Phalen maneuver NOT_TRANSLATED -HP:0033673 Phalen manoeuvre NOT_TRANSLATED -HP:0000907 Anterior cupping of ribs NOT_TRANSLATED -HP:0000907 Anteriorly splayed ribs NOT_TRANSLATED -HP:0033676 PTSD NOT_TRANSLATED -HP:0033677 ARDS NOT_TRANSLATED -HP:0000912 Congenital, upward displacement of the scapula NOT_TRANSLATED -HP:0000912 High scapula NOT_TRANSLATED -HP:0000912 High shoulder blade NOT_TRANSLATED -HP:0000912 Sprengel deformity NOT_TRANSLATED -HP:0000914 Broad chest NOT_TRANSLATED -HP:0000915 Pectus excavatum inferiorly NOT_TRANSLATED -HP:0033683 Brisk jaw jerk NOT_TRANSLATED -HP:0000916 Broad collarbone NOT_TRANSLATED -HP:0000917 Pectus carinatum superiorly NOT_TRANSLATED -HP:0033685 Fibre type grouping NOT_TRANSLATED -HP:0000918 Scapulae exostoses NOT_TRANSLATED -HP:0000918 Shoulder bone exostoes NOT_TRANSLATED -HP:0033686 Megamitochondria NOT_TRANSLATED -HP:0000919 Costochondral juctions abnormal NOT_TRANSLATED -HP:0033687 Short term memory loss NOT_TRANSLATED -HP:0000920 Costochondral thickening NOT_TRANSLATED -HP:0000920 Enlarged costochondral junctions NOT_TRANSLATED -HP:0000920 Prominent costochondral junction NOT_TRANSLATED -HP:0000920 Wide costochondral junctions NOT_TRANSLATED -HP:0000920 Widened costochondral junction NOT_TRANSLATED -HP:0033688 Long term memory loss NOT_TRANSLATED -HP:0000921 Absent ribs NOT_TRANSLATED -HP:0000921 Decreased rib number NOT_TRANSLATED -HP:0033689 Anterograde amnesia NOT_TRANSLATED -HP:0000922 Anterior and posterior rib cupping NOT_TRANSLATED -HP:0033690 Retrograde amnesia NOT_TRANSLATED -HP:0033691 Impaired procedural memory NOT_TRANSLATED -HP:0033691 Procedural memory deficit NOT_TRANSLATED -HP:0000924 Skeletal abnormalities NOT_TRANSLATED -HP:0000924 Skeletal anomalies NOT_TRANSLATED -HP:0033692 Impaired declarative memory NOT_TRANSLATED -HP:0000925 Abnormal spine NOT_TRANSLATED -HP:0000925 Abnormal vertebral column NOT_TRANSLATED -HP:0000925 Abnormality of the backbone NOT_TRANSLATED -HP:0000925 Abnormality of the spine NOT_TRANSLATED -HP:0033693 Olfactory hallucination NOT_TRANSLATED -HP:0033693 Phantom odor NOT_TRANSLATED -HP:0033693 Phantom odour NOT_TRANSLATED -HP:0033693 Phantom smell NOT_TRANSLATED -HP:0000926 Flat vertebral bodies NOT_TRANSLATED -HP:0000926 Flattened vertebrae NOT_TRANSLATED -HP:0000926 Flattened vertebral bodies NOT_TRANSLATED -HP:0033694 Tactile hallucinations NOT_TRANSLATED -HP:0033696 Chilblain-like lesion NOT_TRANSLATED -HP:0000929 Abnormality of the skull NOT_TRANSLATED -HP:0000929 Abnormality of the skull bones NOT_TRANSLATED -HP:0000930 Elevated imprint of occipital bone over the transverse sinuses NOT_TRANSLATED -HP:0000930 Elevated imprint of posterior skull bones over the transverse sinuses NOT_TRANSLATED -HP:0000930 Thinning and bulging of occipital bone over the transverse sinuses NOT_TRANSLATED -HP:0000930 Thinning and bulging of posterior skull bones over the transverse sinuses NOT_TRANSLATED -HP:0000931 Thinning and bulging of occipital bone of skull NOT_TRANSLATED -HP:0000931 Thinning and bulging of posterior fossa bones NOT_TRANSLATED -HP:0000931 Thinning and bulging of posterior skull bones NOT_TRANSLATED -HP:0000932 Abnormality of the posterior cranial fossa NOT_TRANSLATED -HP:0000932 Abnormality of the posterior fossa NOT_TRANSLATED -HP:0000932 Posterior fossa anomaly NOT_TRANSLATED -HP:0033700 Papulo-vesicular eruption NOT_TRANSLATED -HP:0000934 Calcium deposits in joints NOT_TRANSLATED -HP:0000935 Broad cortex of long bones NOT_TRANSLATED -HP:0000935 Cortical thickening of the long bones NOT_TRANSLATED -HP:0000935 Thickened cortices of long bones NOT_TRANSLATED -HP:0033703 DNET NOT_TRANSLATED -HP:0033703 DNT NOT_TRANSLATED -HP:0000938 Generalised osteopenia NOT_TRANSLATED -HP:0000938 Generalized osteopenia NOT_TRANSLATED -HP:0000938 Osteopaenia NOT_TRANSLATED -HP:0000940 Abnormal shape of shaft of long bone NOT_TRANSLATED -HP:0000940 Abnormality involving the diaphyses of the limbs NOT_TRANSLATED -HP:0000940 Abnormality of shaft of long bone of the limbs NOT_TRANSLATED -HP:0000940 Abnormality of the diaphyses NOT_TRANSLATED -HP:0000940 Anomaly of the limb diaphyses NOT_TRANSLATED -HP:0000940 Anomaly of the limb diaphyses morphology NOT_TRANSLATED -HP:0033708 Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies NOT_TRANSLATED -HP:0033708 Anti-HMGCR autoantibodies NOT_TRANSLATED -HP:0000941 Short shaft of long bone NOT_TRANSLATED -HP:0033709 Increased phlegm NOT_TRANSLATED -HP:0033710 Breathlessness at rest NOT_TRANSLATED -HP:0033710 Dyspnea at rest NOT_TRANSLATED -HP:0033710 Dyspnoea at rest NOT_TRANSLATED -HP:0033710 Shortness of breath at rest NOT_TRANSLATED -HP:0000944 Abnormality of the wide portion of a long bone NOT_TRANSLATED -HP:0033712 Recurrent implantation failure NOT_TRANSLATED -HP:0033713 Anti-SRP antibody positivity NOT_TRANSLATED -HP:0000946 Short and small iliac bones NOT_TRANSLATED -HP:0000946 Small iliac bones NOT_TRANSLATED -HP:0000946 Small wings of the pelvic girdle NOT_TRANSLATED -HP:0033714 Multifocal meningiomata NOT_TRANSLATED -HP:0033714 Multiple meningiomata NOT_TRANSLATED -HP:0000947 Dumbbell widening of long bone metaphyses NOT_TRANSLATED -HP:0033715 Mesial temporal sclerosis NOT_TRANSLATED -HP:0000951 Dermatopathy NOT_TRANSLATED -HP:0000951 Dermopathy NOT_TRANSLATED -HP:0000951 Skin abnormality NOT_TRANSLATED -HP:0000952 Icterus NOT_TRANSLATED -HP:0000952 Yellow skin NOT_TRANSLATED -HP:0000952 Yellowing of the skin NOT_TRANSLATED -HP:0000953 Cutaneous hyperpigmentation NOT_TRANSLATED -HP:0000953 Hyperpigmented lesion NOT_TRANSLATED -HP:0000953 Increased skin pigmentation NOT_TRANSLATED -HP:0000953 Melanoderma NOT_TRANSLATED -HP:0000953 Melanodermia NOT_TRANSLATED -HP:0000953 Patchy darkened skin NOT_TRANSLATED -HP:0000953 Skin hyperpigmentation NOT_TRANSLATED -HP:0000954 Simian crease NOT_TRANSLATED -HP:0000954 Simian creases NOT_TRANSLATED -HP:0000954 Simian line NOT_TRANSLATED -HP:0000954 Single flexion crease NOT_TRANSLATED -HP:0000954 Single palmar crease NOT_TRANSLATED -HP:0000954 Single palmar creases NOT_TRANSLATED -HP:0000954 Single transverse palmar creases NOT_TRANSLATED -HP:0000954 Transverse palmar crease NOT_TRANSLATED -HP:0033722 Autonomic aura NOT_TRANSLATED -HP:0033722 Autonomic auras NOT_TRANSLATED -HP:0033722 Vegetative aura NOT_TRANSLATED -HP:0033723 Abnormal dural venous sinus morphology NOT_TRANSLATED -HP:0033723 Abnormality of the cerebral venous sinuses NOT_TRANSLATED -HP:0000956 Darkened and thickened skin NOT_TRANSLATED -HP:0000956 Keratosis nigricans NOT_TRANSLATED -HP:0000957 Birthmark NOT_TRANSLATED -HP:0000957 Cafe au lait spots NOT_TRANSLATED -HP:0000957 Cafe-au-lait macule NOT_TRANSLATED -HP:0000957 Cafe-au-lait macules NOT_TRANSLATED -HP:0000957 Cafe-au-lait spots NOT_TRANSLATED -HP:0000957 Flat light-brown mark on skin NOT_TRANSLATED -HP:0033725 Small corpus callosum NOT_TRANSLATED -HP:0033725 Thinning of the corpus callosum NOT_TRANSLATED -HP:0000958 Xerosis NOT_TRANSLATED -HP:0033727 Class IV lupus nephritis NOT_TRANSLATED -HP:0000960 Pilonidal dimple NOT_TRANSLATED -HP:0000960 Spinal dimple NOT_TRANSLATED -HP:0033728 Class II lupus nephritis NOT_TRANSLATED -HP:0000961 Blue discoloration of the skin NOT_TRANSLATED -HP:0033729 Class I lupus nephritis NOT_TRANSLATED -HP:0033730 Class V lupus nephritis NOT_TRANSLATED -HP:0033731 Class III lupus nephritis NOT_TRANSLATED -HP:0033732 Class VI lupus nephritis NOT_TRANSLATED -HP:0000966 Decreased ability to sweat NOT_TRANSLATED -HP:0000966 Decreased sweating NOT_TRANSLATED -HP:0000966 Inadequate sweating NOT_TRANSLATED -HP:0000966 Oligohidrosis NOT_TRANSLATED -HP:0000966 Sweating, decreased NOT_TRANSLATED -HP:0033735 Grade I VUR NOT_TRANSLATED -HP:0033735 VUR I NOT_TRANSLATED -HP:0033736 Grade II VUR NOT_TRANSLATED -HP:0033736 VUR II NOT_TRANSLATED -HP:0000969 Dropsy NOT_TRANSLATED -HP:0000969 Fluid retention NOT_TRANSLATED -HP:0000969 Hydrops NOT_TRANSLATED -HP:0000969 Oedema NOT_TRANSLATED -HP:0000969 Water retention NOT_TRANSLATED -HP:0033737 Grade III VUR NOT_TRANSLATED -HP:0033737 VUR III NOT_TRANSLATED -HP:0000970 Anhydrosis NOT_TRANSLATED -HP:0000970 Lack of sweating NOT_TRANSLATED -HP:0000970 Sudomotor dysfunction NOT_TRANSLATED -HP:0000970 Sweating dysfunction NOT_TRANSLATED -HP:0000971 Abnormalities of sweating NOT_TRANSLATED -HP:0000971 Abnormality of the sweat gland NOT_TRANSLATED -HP:0000971 Sweat gland disease NOT_TRANSLATED -HP:0000972 Hyperkeratosis of palms and soles NOT_TRANSLATED -HP:0000972 Hyperkeratosis of the palms and soles NOT_TRANSLATED -HP:0000972 Palmoplantar keratoses NOT_TRANSLATED -HP:0000972 Palmoplantar keratosis NOT_TRANSLATED -HP:0000972 Thick palms and soles NOT_TRANSLATED -HP:0000972 Thickened palms and soles NOT_TRANSLATED -HP:0000972 Thickening of the outer layer of the skin of the palms and soles NOT_TRANSLATED -HP:0033740 Grade V VUR NOT_TRANSLATED -HP:0033740 VUR V NOT_TRANSLATED -HP:0000973 Chalazoderma NOT_TRANSLATED -HP:0000973 Cutaneous laxity NOT_TRANSLATED -HP:0000973 Dermatochalasia NOT_TRANSLATED -HP:0000973 Dermatomegaly NOT_TRANSLATED -HP:0000973 Elastolysis NOT_TRANSLATED -HP:0000973 Generalised elastolysis NOT_TRANSLATED -HP:0000973 Generalized elastolysis NOT_TRANSLATED -HP:0000973 Hanging skin NOT_TRANSLATED -HP:0000973 Hypoelastic skin NOT_TRANSLATED -HP:0000973 Inelastic skin NOT_TRANSLATED -HP:0000973 Lax skin NOT_TRANSLATED -HP:0000973 Loose and inelastic skin NOT_TRANSLATED -HP:0000973 Loose skin NOT_TRANSLATED -HP:0000973 Skin laxity NOT_TRANSLATED -HP:0033741 Grade IV VUR NOT_TRANSLATED -HP:0033741 VUR IV NOT_TRANSLATED -HP:0000974 Hyperelastic skin NOT_TRANSLATED -HP:0000974 Skin hyperelasticity NOT_TRANSLATED -HP:0000974 Skin hyperextensibility NOT_TRANSLATED -HP:0000974 Stretchable skin NOT_TRANSLATED -HP:0000975 Diaphoresis NOT_TRANSLATED -HP:0000975 Excessive sweating NOT_TRANSLATED -HP:0000975 Increased sweating NOT_TRANSLATED -HP:0000975 Profuse sweating NOT_TRANSLATED -HP:0000975 Sweating NOT_TRANSLATED -HP:0000975 Sweating profusely NOT_TRANSLATED -HP:0000975 Sweating, increased NOT_TRANSLATED -HP:0000977 Velvety skin NOT_TRANSLATED -HP:0000977 Velvety skin texture NOT_TRANSLATED -HP:0000978 Bruisability NOT_TRANSLATED -HP:0000978 Bruise easily NOT_TRANSLATED -HP:0000978 Easy bruisability NOT_TRANSLATED -HP:0000978 Easy bruising NOT_TRANSLATED -HP:0033746 Pain between shoulder blades NOT_TRANSLATED -HP:0000979 Blood spots NOT_TRANSLATED -HP:0000979 Red or purple spots on the skin NOT_TRANSLATED -HP:0000980 Paleness NOT_TRANSLATED -HP:0000980 Skin paleness NOT_TRANSLATED -HP:0033748 Hypoaesthesia NOT_TRANSLATED -HP:0033748 Numbness NOT_TRANSLATED -HP:0000982 Palmar and plantar keratoderma NOT_TRANSLATED -HP:0000982 Thickening of palms and soles NOT_TRANSLATED -HP:0000987 Atypical scarring NOT_TRANSLATED -HP:0000988 Rash NOT_TRANSLATED -HP:0000989 Itching NOT_TRANSLATED -HP:0000989 Itchy skin NOT_TRANSLATED -HP:0000989 Skin itching NOT_TRANSLATED -HP:0033757 Fatty pancreas NOT_TRANSLATED -HP:0033757 Non-alcoholic fatty pancreatic disease NOT_TRANSLATED -HP:0033757 Pancreatic fatty infiltration NOT_TRANSLATED -HP:0033757 Pancreatic fatty replacement NOT_TRANSLATED -HP:0033757 Pancreatic lipomatosis NOT_TRANSLATED -HP:0033757 Pancreatic lipomatous pseudohypertrophy NOT_TRANSLATED -HP:0033758 Abscess of the labia NOT_TRANSLATED -HP:0000991 Xanthomata NOT_TRANSLATED -HP:0000991 Yellow bumps of fatty deposits on skin NOT_TRANSLATED -HP:0000992 Photosensitive skin NOT_TRANSLATED -HP:0000992 Photosensitive skin rashes NOT_TRANSLATED -HP:0000992 Photosensitivity NOT_TRANSLATED -HP:0000992 Sensitivity to sunlight NOT_TRANSLATED -HP:0000992 Skin photosensitivity NOT_TRANSLATED -HP:0000992 Sun sensitivity NOT_TRANSLATED -HP:0000993 Molluscoid pseudotumor NOT_TRANSLATED -HP:0000995 Beauty mark NOT_TRANSLATED -HP:0000995 Melanocytic naevus NOT_TRANSLATED -HP:0000995 Melanocytic nevi NOT_TRANSLATED -HP:0000995 Nevocellular nevi NOT_TRANSLATED -HP:0000995 Noncancerous mole NOT_TRANSLATED -HP:0000995 Pigmented naevi NOT_TRANSLATED -HP:0000995 Pigmented nevi NOT_TRANSLATED -HP:0000998 Excessive hair growth NOT_TRANSLATED -HP:0000998 Increased hair growth on body NOT_TRANSLATED -HP:0000999 Pus-filled lesion NOT_TRANSLATED -HP:0001000 Abnormal pigmentation NOT_TRANSLATED -HP:0001000 Abnormal skin color NOT_TRANSLATED -HP:0001000 Abnormal skin colour NOT_TRANSLATED -HP:0001000 Abnormal skin pigmentation NOT_TRANSLATED -HP:0001000 Abnormality of pigmentation NOT_TRANSLATED -HP:0001000 Pigmentary changes NOT_TRANSLATED -HP:0001000 Pigmentary skin changes NOT_TRANSLATED -HP:0001000 Pigmentation anomaly NOT_TRANSLATED -HP:0033768 Penile candidiasis NOT_TRANSLATED -HP:0001001 Abnormality of fatty tissue below the skin NOT_TRANSLATED -HP:0033769 Fundic gland polyps NOT_TRANSLATED -HP:0033769 Gastric polyposis NOT_TRANSLATED -HP:0033769 Proximal polyposis of the stomach NOT_TRANSLATED -HP:0001003 Liver spots NOT_TRANSLATED -HP:0001004 Lymphatic obstruction NOT_TRANSLATED -HP:0001004 Lymphoedema NOT_TRANSLATED -HP:0001004 Onset of lymphedema around puberty NOT_TRANSLATED -HP:0001004 Swelling caused by excess lymph fluid under skin NOT_TRANSLATED -HP:0001007 Excessive hairiness NOT_TRANSLATED -HP:0001009 Cutaneous telangiectasia NOT_TRANSLATED -HP:0001009 Spider veins NOT_TRANSLATED -HP:0001009 Telangiectases NOT_TRANSLATED -HP:0033777 Additional cusp NOT_TRANSLATED -HP:0033777 Extra cusp NOT_TRANSLATED -HP:0001010 Hypopigmentation NOT_TRANSLATED -HP:0001010 Hypopigmented skin NOT_TRANSLATED -HP:0001010 Patchy lightened skin NOT_TRANSLATED -HP:0001010 Skin hypopigmentation NOT_TRANSLATED -HP:0001012 Lipomas NOT_TRANSLATED -HP:0001012 Lipomatosis NOT_TRANSLATED -HP:0001012 Multiple fatty lumps NOT_TRANSLATED -HP:0001014 Angiokeratomas NOT_TRANSLATED -HP:0033782 Crescent-shape tooth NOT_TRANSLATED -HP:0033782 Hutchinson incisor NOT_TRANSLATED -HP:0033782 Semicircular tooth NOT_TRANSLATED -HP:0033782 Tooth, semilunar NOT_TRANSLATED -HP:0001015 Marked subcutaneous veins NOT_TRANSLATED -HP:0001015 Prominent veins NOT_TRANSLATED -HP:0001017 Anaemic pallor NOT_TRANSLATED -HP:0033786 Enamel opacity NOT_TRANSLATED -HP:0001019 Exfoliative dermititis NOT_TRANSLATED -HP:0001019 Generalised erythroderma NOT_TRANSLATED -HP:0001019 Generalised erythrodermia NOT_TRANSLATED -HP:0001019 Generalized erythroderma NOT_TRANSLATED -HP:0001019 Generalized erythrodermia NOT_TRANSLATED -HP:0001019 Red scaly skin caused by inflammatory skin disease NOT_TRANSLATED -HP:0033787 Cementum aplasia NOT_TRANSLATED -HP:0033788 Cementation hyperplasia NOT_TRANSLATED -HP:0033788 Cementum hypertrophy NOT_TRANSLATED -HP:0033788 Cementum overdeveloped NOT_TRANSLATED -HP:0033788 Drumstick-shaped root NOT_TRANSLATED -HP:0033788 Hypercementosis NOT_TRANSLATED -HP:0001022 Achromasia NOT_TRANSLATED -HP:0033790 Flame-shaped pulp NOT_TRANSLATED -HP:0001025 Hives NOT_TRANSLATED -HP:0033794 Acral enlargement NOT_TRANSLATED -HP:0033794 Acral hypertrophy NOT_TRANSLATED -HP:0033794 Acromegalic growth NOT_TRANSLATED -HP:0033794 Acromegaly NOT_TRANSLATED -HP:0001028 Hemangiomata NOT_TRANSLATED -HP:0001028 Strawberry mark NOT_TRANSLATED -HP:0033797 Abnormal leukocyte migration NOT_TRANSLATED -HP:0033797 Defects of leukocyte migration NOT_TRANSLATED -HP:0001030 Skin fragility NOT_TRANSLATED -HP:0033799 Abnormal circulating gonadal steroid concentration NOT_TRANSLATED -HP:0033799 Abnormal circulating gonadocorticoid concentration NOT_TRANSLATED -HP:0033799 Abnormal circulating sex steroid concentration NOT_TRANSLATED -HP:0001032 Absence of skin creases over distal interphalangeal joints NOT_TRANSLATED -HP:0001032 Aplasia of the distal interphalangeal creases NOT_TRANSLATED -HP:0001032 Distal finger flexion creases absent NOT_TRANSLATED -HP:0001034 Hyperpigmented macules NOT_TRANSLATED -HP:0001034 Hyperpigmented skin patches NOT_TRANSLATED -HP:0001034 Hyperpigmented spots NOT_TRANSLATED -HP:0033803 Blistering with sub-lamina densa plane of cleavage NOT_TRANSLATED -HP:0001041 Blushed cheeks NOT_TRANSLATED -HP:0001041 Blushing NOT_TRANSLATED -HP:0001041 Red face NOT_TRANSLATED -HP:0001041 Red in the face NOT_TRANSLATED -HP:0001041 Rosacea NOT_TRANSLATED -HP:0001041 Ruddy face NOT_TRANSLATED -HP:0001045 Blotchy loss of skin color NOT_TRANSLATED -HP:0001045 Blotchy loss of skin colour NOT_TRANSLATED -HP:0001046 Intermittent icterus NOT_TRANSLATED -HP:0001046 Intermittent yellow skin NOT_TRANSLATED -HP:0001046 Intermittent yellowing of skin NOT_TRANSLATED -HP:0001047 Atopic dermatitis, chronic NOT_TRANSLATED -HP:0001047 Baby eczema NOT_TRANSLATED -HP:0001047 Dermatitis, Atopic NOT_TRANSLATED -HP:0001048 Cavernous angioma NOT_TRANSLATED -HP:0001048 Cavernous haemangioma NOT_TRANSLATED -HP:0001048 Collection of dilated blood vessels that forms mass NOT_TRANSLATED -HP:0001051 Dysseborrheic dermatitis NOT_TRANSLATED -HP:0001051 Seborrhea NOT_TRANSLATED -HP:0001051 Seborrheic eczema NOT_TRANSLATED -HP:0001052 Nevus simplex NOT_TRANSLATED -HP:0001052 port-wine stain NOT_TRANSLATED -HP:0001053 Patchy loss of skin color NOT_TRANSLATED -HP:0001053 Patchy loss of skin colour NOT_TRANSLATED -HP:0001054 Multiple pigmented nevi NOT_TRANSLATED -HP:0001054 Numerous moles NOT_TRANSLATED -HP:0001055 St. Anthony's Fire NOT_TRANSLATED -HP:0001056 Milk spot NOT_TRANSLATED -HP:0001056 Millium cyst NOT_TRANSLATED -HP:0001057 Absence of part of skin at birth NOT_TRANSLATED -HP:0001057 Congenital absence of skin NOT_TRANSLATED -HP:0001057 Congenital scars NOT_TRANSLATED -HP:0001057 Cutis aplasia NOT_TRANSLATED -HP:0001059 Pterygia NOT_TRANSLATED -HP:0001060 Axillary pterygia NOT_TRANSLATED -HP:0001061 Breaking out NOT_TRANSLATED -HP:0001062 Atypical mole NOT_TRANSLATED -HP:0001062 Dysplastic Nevus NOT_TRANSLATED -HP:0001063 Persistent blue color of hands or feet NOT_TRANSLATED -HP:0001063 Persistent blue colour of hands or feet NOT_TRANSLATED -HP:0033832 Livedoid dermatitis NOT_TRANSLATED -HP:0001065 Purplish striae NOT_TRANSLATED -HP:0001065 Stretch marks NOT_TRANSLATED -HP:0001065 Striae NOT_TRANSLATED -HP:0001065 Striae atrophicae NOT_TRANSLATED -HP:0001065 Striae cutis distensae NOT_TRANSLATED -HP:0033833 Elevated circulating interleukin-2 receptor alpha-chain NOT_TRANSLATED -HP:0001067 multiple neurofibromas NOT_TRANSLATED -HP:0001067 Neurofibromata NOT_TRANSLATED -HP:0001067 Neurofibromatosis NOT_TRANSLATED -HP:0033836 Abnormal kidney arterial blood vessel morphology NOT_TRANSLATED -HP:0001069 Hyperhidrosis, episodic NOT_TRANSLATED -HP:0001069 Sporadic excessive sweating NOT_TRANSLATED -HP:0033837 Abnormalities of arcuate arteries NOT_TRANSLATED -HP:0001070 Mottled skin coloring NOT_TRANSLATED -HP:0001070 Mottled skin colouring NOT_TRANSLATED -HP:0001070 Stippled pigmentation NOT_TRANSLATED -HP:0001071 Fabry syndrome NOT_TRANSLATED -HP:0033839 Pain in testicles NOT_TRANSLATED -HP:0001072 Diffusely thickened skin NOT_TRANSLATED -HP:0001072 Pachydermia NOT_TRANSLATED -HP:0001072 Thick skin NOT_TRANSLATED -HP:0001073 Cigarette paper scarring NOT_TRANSLATED -HP:0033841 Itchy eyes NOT_TRANSLATED -HP:0033841 Ocular itch NOT_TRANSLATED -HP:0033842 Feeling full quickly when eating NOT_TRANSLATED -HP:0033842 Not able to finish a normal-sized meal NOT_TRANSLATED -HP:0001075 Sunken or indented skin due to damage NOT_TRANSLATED -HP:0001075 Thin, atrophic scars NOT_TRANSLATED -HP:0001076 Glabellair capillair hemangioom CANDIDATE -HP:0033844 Racing thoughts NOT_TRANSLATED -HP:0033845 Sense of doom NOT_TRANSLATED -HP:0033847 Phantom taste NOT_TRANSLATED -HP:0001080 Biliary tract disease NOT_TRANSLATED -HP:0033848 Fluent aphasia NOT_TRANSLATED -HP:0033848 Wernicke aphasia NOT_TRANSLATED -HP:0001081 Galstenen CANDIDATE -HP:0001082 Gallbladder inflammation NOT_TRANSLATED -HP:0033850 Cold skin temperature NOT_TRANSLATED -HP:0033850 Cool skin NOT_TRANSLATED -HP:0033850 Cool skin temperature NOT_TRANSLATED -HP:0033850 Coolness to palpation NOT_TRANSLATED -HP:0001083 Abnormality of lens position NOT_TRANSLATED -HP:0001083 Lens dislocation NOT_TRANSLATED -HP:0001084 Anterior embryotoxon NOT_TRANSLATED -HP:0001084 Arcus juvenilis NOT_TRANSLATED -HP:0001084 Arcus lipoidis NOT_TRANSLATED -HP:0001084 Arcus senilis NOT_TRANSLATED -HP:0001084 Corneal annulus NOT_TRANSLATED -HP:0001084 Gerontoxon NOT_TRANSLATED -HP:0001085 Papillitis NOT_TRANSLATED -HP:0001087 Childhood glaucoma NOT_TRANSLATED -HP:0001087 Infantile glaucoma NOT_TRANSLATED -HP:0001087 Paediatric glaucoma NOT_TRANSLATED -HP:0001087 Pediatric glaucoma NOT_TRANSLATED -HP:0033855 Abnormal morphology of the interlobular vein lumen NOT_TRANSLATED -HP:0001088 Iris brushfield spots NOT_TRANSLATED -HP:0001088 Speckled iris NOT_TRANSLATED -HP:0001089 Iris degeneration NOT_TRANSLATED -HP:0001090 Increased size of eyes NOT_TRANSLATED -HP:0001090 Increased size of palpebral fissures NOT_TRANSLATED -HP:0001090 Large eyeballs NOT_TRANSLATED -HP:0001090 Large eyes NOT_TRANSLATED -HP:0001090 Large of palpebral fissures NOT_TRANSLATED -HP:0001090 Megalophthalmos NOT_TRANSLATED -HP:0001092 Absent lacrimal gland puncta NOT_TRANSLATED -HP:0001092 Absent lacrimal openings NOT_TRANSLATED -HP:0001092 Absent lacrimal puncta NOT_TRANSLATED -HP:0001092 Agenesis of the lacrimal punctum NOT_TRANSLATED -HP:0001092 Aplasia of lacrimal puncta NOT_TRANSLATED -HP:0001092 Lacrimal puncta aplasia NOT_TRANSLATED -HP:0001092 Lacrimal punctum, absence NOT_TRANSLATED -HP:0033861 Multilamellation of basement membranes within cortical peritubular capillaries NOT_TRANSLATED -HP:0001097 Dry eye syndrome NOT_TRANSLATED -HP:0001097 Dry eyes NOT_TRANSLATED -HP:0001097 Keratitis sicca NOT_TRANSLATED -HP:0001097 Xerophthalmia NOT_TRANSLATED -HP:0001098 Abnormality of the fundus NOT_TRANSLATED -HP:0033867 Multilamellation of basement membranes within medullary peritubular capillaries NOT_TRANSLATED -HP:0001100 Different colored eyes NOT_TRANSLATED -HP:0001100 Different coloured eyes NOT_TRANSLATED -HP:0001100 Heterochromia irides NOT_TRANSLATED -HP:0001101 Inflammation of iris NOT_TRANSLATED -HP:0033869 Cholesterol emboli within the medullary peritubular capillary lumen NOT_TRANSLATED -HP:0001102 Angioid streaks NOT_TRANSLATED -HP:0001102 Angioid streaks of the retina NOT_TRANSLATED -HP:0001102 Angioid streaks, retina NOT_TRANSLATED -HP:0001102 Knapp streaks NOT_TRANSLATED -HP:0001102 Laquer cracks of the retina NOT_TRANSLATED -HP:0033870 Intraluminal thrombi within medullary peritubular capillaries NOT_TRANSLATED -HP:0001103 Abnormality of the macula NOT_TRANSLATED -HP:0001103 Macula abnormality NOT_TRANSLATED -HP:0001103 Macular abnormality NOT_TRANSLATED -HP:0033871 Organized thrombi within the medullary peritubular capillary lumen NOT_TRANSLATED -HP:0033873 Intraluminal thrombi within cortical peritubular capillaries NOT_TRANSLATED -HP:0001106 Dark circles around the eyes NOT_TRANSLATED -HP:0001106 Dark circles under the eyes NOT_TRANSLATED -HP:0001106 Darkening around the eyes NOT_TRANSLATED -HP:0001106 Idiopathic cutaneous hyperchromia at the orbital region NOT_TRANSLATED -HP:0001106 Infraorbital pigmentation NOT_TRANSLATED -HP:0001106 Periorbital melanosis NOT_TRANSLATED -HP:0001106 Pigmentation around the eyes NOT_TRANSLATED -HP:0001107 Absent pigmentation in the eye NOT_TRANSLATED -HP:0001107 Albinism, Ocular NOT_TRANSLATED -HP:0033876 Cholesterol emboli within arcuate vein lumen NOT_TRANSLATED -HP:0033877 Intraluminal thrombi within arcuate veins NOT_TRANSLATED -HP:0033878 Organized thrombi within arcuate vein lumen NOT_TRANSLATED -HP:0001112 Leber optic atrophy features NOT_TRANSLATED -HP:0001112 Leber optic degeneration NOT_TRANSLATED -HP:0033880 Intimal mucoid edema within arcuate veins NOT_TRANSLATED -HP:0033881 Myxomatous change within arcuate vein intima/media NOT_TRANSLATED -HP:0001114 Fatty deposits in skin around the eyes NOT_TRANSLATED -HP:0001114 Fatty deposits on eyelids NOT_TRANSLATED -HP:0001114 Xanthelasma of eyelid NOT_TRANSLATED -HP:0001114 Xanthelasma of periocular region NOT_TRANSLATED -HP:0001114 Xanthelasma palpebrarum NOT_TRANSLATED -HP:0001114 Xanthoma NOT_TRANSLATED -HP:0001114 Xanthoma of eyelid NOT_TRANSLATED -HP:0001114 Xanthoma of periocular region NOT_TRANSLATED -HP:0033882 Amyloidosis within arcuate vein intima/media NOT_TRANSLATED -HP:0001115 Polar cataract, posterior NOT_TRANSLATED -HP:0033883 Abnormal interlobular artery morphology NOT_TRANSLATED -HP:0001116 Coloboma of the macula NOT_TRANSLATED -HP:0033884 Abnormal interlobular arterial lumen morphology NOT_TRANSLATED -HP:0001117 Sudden central visual loss NOT_TRANSLATED -HP:0001117 Sudden decrease in vision NOT_TRANSLATED -HP:0033886 Abnormalities of the arcuate arterial intima/media NOT_TRANSLATED -HP:0033887 Amyloidosis within interlobular arterial intima/media NOT_TRANSLATED -HP:0033887 Interlobular arterial intima/media amyloidosis NOT_TRANSLATED -HP:0033888 Abnormalities of the interlobular arterial intima/media NOT_TRANSLATED -HP:0001123 Partial loss of field of vision NOT_TRANSLATED -HP:0001123 Visual field defects NOT_TRANSLATED -HP:0033891 Cholesterol emboli within the arteriolar lumen NOT_TRANSLATED -HP:0001125 Hemianopic blurring NOT_TRANSLATED -HP:0001125 Hemianoptic blurring of vision NOT_TRANSLATED -HP:0001125 Transient unilateral blurred vision NOT_TRANSLATED -HP:0001128 Ingrown eyelashes NOT_TRANSLATED -HP:0001128 Introversion of eyelashes NOT_TRANSLATED -HP:0001128 Trichiasis of eyelid eyelashes NOT_TRANSLATED -HP:0033896 Abnormalities of the arcuate arterial lumen NOT_TRANSLATED -HP:0001129 Large central loss of field of vision NOT_TRANSLATED -HP:0033897 Cholesterol emboli within arcuate arterial lumen NOT_TRANSLATED -HP:0033898 Intraluminal thrombi within arcuate arterial lumen NOT_TRANSLATED -HP:0033899 Organized thrombi within arcuate arterial lumen NOT_TRANSLATED -HP:0001132 Partially dislocated lens NOT_TRANSLATED -HP:0033900 Amyloidosis within renal arteriolar intima/media NOT_TRANSLATED -HP:0001133 Concentric narrowing of visual field NOT_TRANSLATED -HP:0001133 Constricted visual field NOT_TRANSLATED -HP:0001133 Constricted visual fields NOT_TRANSLATED -HP:0001133 Limited peripheral vision NOT_TRANSLATED -HP:0001133 Reduced peripheral vision NOT_TRANSLATED -HP:0001133 Visual field constriction NOT_TRANSLATED -HP:0001134 Polar cataract, anterior NOT_TRANSLATED -HP:0033902 Endotheliosis within arcuate arteries NOT_TRANSLATED -HP:0033903 Endoarterial hypercellularity within arcuate artery NOT_TRANSLATED -HP:0001136 Tortuous retinal arterioles NOT_TRANSLATED -HP:0001137 Alternating cross eyes NOT_TRANSLATED -HP:0033905 Arteriosclerosis within arcuate arterial intima/media NOT_TRANSLATED -HP:0001138 Damaged optic nerve NOT_TRANSLATED -HP:0001140 Benign eye tumor NOT_TRANSLATED -HP:0001140 Benign eye tumour NOT_TRANSLATED -HP:0001140 Epibulbar dermoid NOT_TRANSLATED -HP:0001140 Epibulbar dermoids NOT_TRANSLATED -HP:0001141 Marked vision impairment NOT_TRANSLATED -HP:0001141 Severe reduction in visual acuity NOT_TRANSLATED -HP:0001141 Severe vision loss NOT_TRANSLATED -HP:0001141 Severe visual impairment NOT_TRANSLATED -HP:0001141 Severe visual loss NOT_TRANSLATED -HP:0001141 Severely impaired vision NOT_TRANSLATED -HP:0033909 Medial hypertrophy within arcuate veins NOT_TRANSLATED -HP:0033910 Medial atrophy within arcuate veins NOT_TRANSLATED -HP:0033911 Interlobular artery medial hypertrophy NOT_TRANSLATED -HP:0033911 Medial hypertrophy within interlobular arteries NOT_TRANSLATED -HP:0001144 Cyst of eye socket NOT_TRANSLATED -HP:0001144 Orbital cysts NOT_TRANSLATED -HP:0033912 Interlobular artery medial atrophy NOT_TRANSLATED -HP:0033912 Medial atrophy within interlobular arteries NOT_TRANSLATED -HP:0033913 Arteritis within interlobular arterial intima/media NOT_TRANSLATED -HP:0033913 Interlobular artery medial/intimal arteriitis NOT_TRANSLATED -HP:0033914 Amyloidosis within arcuate arterial intima/media NOT_TRANSLATED -HP:0001147 Retinal exudates NOT_TRANSLATED -HP:0001149 Biber haab dimmer dystrophy NOT_TRANSLATED -HP:0033917 Venulitis within arcuate vein intima/media NOT_TRANSLATED -HP:0033918 Medial hypertrophy within arterioles NOT_TRANSLATED -HP:0001151 Abnormal horizontal ocular pursuit NOT_TRANSLATED -HP:0001151 Impaired horizontal visual pursuit NOT_TRANSLATED -HP:0001152 Saccadic pursuit movements NOT_TRANSLATED -HP:0001152 Saccadic slow pursuit NOT_TRANSLATED -HP:0033920 Accumulated storage material within arteriolar intima/media NOT_TRANSLATED -HP:0001153 Double vagina NOT_TRANSLATED -HP:0033921 Endoarterial hypercellularity within arterioles NOT_TRANSLATED -HP:0001155 Abnormal hands NOT_TRANSLATED -HP:0001155 Hand anomalies NOT_TRANSLATED -HP:0001155 Hand deformities NOT_TRANSLATED -HP:0033923 Endoarterial hypercellularity within arterioles consisting of foam cells NOT_TRANSLATED -HP:0001156 Brachydactyly syndrome NOT_TRANSLATED -HP:0001156 Short fingers or toes NOT_TRANSLATED -HP:0033924 Endoarterial hypercellularity within arterioles consisting of neutrophils NOT_TRANSLATED -HP:0033925 Endoarterial hypercellularity within arterioles consisting of lymphocytes NOT_TRANSLATED -HP:0033926 Multilamellation (onion skinning) within renal arteriole intima/media NOT_TRANSLATED -HP:0033926 Renal arteriole intima/media multilamellation NOT_TRANSLATED -HP:0033926 Renal arteriole intimal/medial onion skinning NOT_TRANSLATED -HP:0001159 Webbed fingers or toes NOT_TRANSLATED -HP:0033927 Endoarterial hypercellularity within arcuate artery consisting of leukocytes NOT_TRANSLATED -HP:0033928 Endoarterial hypercellularity within arcuate artery consisting of foam cells NOT_TRANSLATED -HP:0001161 Extra finger NOT_TRANSLATED -HP:0001161 Finger polydactyly NOT_TRANSLATED -HP:0001161 Polydactyly of the hand NOT_TRANSLATED -HP:0001161 Supernumerary finger NOT_TRANSLATED -HP:0033929 Endoarterial hypercellularity within arcuate artery consisting of neutrophils NOT_TRANSLATED -HP:0001162 Extra little finger NOT_TRANSLATED -HP:0001162 Extra pinkie finger NOT_TRANSLATED -HP:0001162 Extra pinky finger NOT_TRANSLATED -HP:0001162 Polydactyly affecting the 5th finger NOT_TRANSLATED -HP:0001162 Postaxial polydactyly of fingers NOT_TRANSLATED -HP:0001162 Postaxial polydactyly of hand NOT_TRANSLATED -HP:0001162 Postaxial polydactyly of hands NOT_TRANSLATED -HP:0033930 Endoarterial hypercellularity within arcuate artery consisting of lymphocytes NOT_TRANSLATED -HP:0033932 Coagulative necrosis within interlobular arterial intima/media NOT_TRANSLATED -HP:0033933 Liquefactive necrosis of the arcuate artery intima/media NOT_TRANSLATED -HP:0001166 Long slender fingers NOT_TRANSLATED -HP:0001166 Long, slender fingers NOT_TRANSLATED -HP:0001166 Spider fingers NOT_TRANSLATED -HP:0033934 Multilamellation (onion skinning) within arteriolar intima/media NOT_TRANSLATED -HP:0033934 Renal arteriole intima/media onion skinning NOT_TRANSLATED -HP:0001167 Abnormalities of the fingers NOT_TRANSLATED -HP:0033935 Necrosis within interlobular arterial intima/media NOT_TRANSLATED -HP:0033936 Liquefactive necrosis within interlobular arterial intima/media NOT_TRANSLATED -HP:0001169 Broad hand NOT_TRANSLATED -HP:0001169 Broad hands NOT_TRANSLATED -HP:0001169 Wide palm NOT_TRANSLATED -HP:0001171 Ectrodactyly of the hand NOT_TRANSLATED -HP:0001171 Hand ectrodactyly NOT_TRANSLATED -HP:0001171 Split-hand NOT_TRANSLATED -HP:0033939 Liquefactive necrosis of the renal arteriolar intima/media NOT_TRANSLATED -HP:0001172 Abnormality of the thumb NOT_TRANSLATED -HP:0001172 Abnormality of the thumbs NOT_TRANSLATED -HP:0001172 Thumb deformity NOT_TRANSLATED -HP:0033941 Granulomatous arteriolitis within arteriolar intima/media NOT_TRANSLATED -HP:0033942 Necrosis within arcuate vein intima/media NOT_TRANSLATED -HP:0033943 Coagulative necrosis within arcuate vein intima/media NOT_TRANSLATED -HP:0001176 Disproportionately large hands NOT_TRANSLATED -HP:0001176 large hand NOT_TRANSLATED -HP:0033944 Liquefactive necrosis within arcuate vein intima/media NOT_TRANSLATED -HP:0001177 Extra thumb NOT_TRANSLATED -HP:0001177 Polydactyly affecting the thumb NOT_TRANSLATED -HP:0001177 Preaxial polydactyly of hands NOT_TRANSLATED -HP:0001177 Supernumerary thumb NOT_TRANSLATED -HP:0001177 thumb polydactyly NOT_TRANSLATED -HP:0033947 Accumulated crystals within renal arteriolar intima/media NOT_TRANSLATED -HP:0001180 Hand has less than 5 fingers NOT_TRANSLATED -HP:0033948 Arteritis within arcuate arterial intima/media NOT_TRANSLATED -HP:0001181 Adducted thumbs NOT_TRANSLATED -HP:0001181 Inward turned thumb NOT_TRANSLATED -HP:0001181 Thumb-in-palm deformity NOT_TRANSLATED -HP:0001181 Thumb-in-palm pattern NOT_TRANSLATED -HP:0033949 Granulomatous arteritis within arcuate arterial intima/media NOT_TRANSLATED -HP:0001182 Distally tapering fingers NOT_TRANSLATED -HP:0001182 Tapered fingers NOT_TRANSLATED -HP:0001182 Tapered fingertips NOT_TRANSLATED -HP:0001182 Tapering fingers NOT_TRANSLATED -HP:0033950 Intraluminal thrombi within interlobular arterial lumen NOT_TRANSLATED -HP:0033951 Organized thrombi within interlobular arterial lumen NOT_TRANSLATED -HP:0033952 Abnormalities of the interlobular arterial endothelium NOT_TRANSLATED -HP:0033953 Endotheliosis within interlobular arteries NOT_TRANSLATED -HP:0033954 Endoarterial hypercellularity within interlobular artery NOT_TRANSLATED -HP:0001187 Finger joint hyperextensibility NOT_TRANSLATED -HP:0001187 Hyperextensible digits NOT_TRANSLATED -HP:0001187 Hyperextensible finger NOT_TRANSLATED -HP:0001187 Hyperextensible fingers NOT_TRANSLATED -HP:0033955 Endoarterial hypercellularity within interlobular artery consisting of leukocytes NOT_TRANSLATED -HP:0001188 Clenched hand NOT_TRANSLATED -HP:0001188 Clenched hands NOT_TRANSLATED -HP:0033956 Endoarterial hypercellularity within interlobular artery consisting of lymphocytes NOT_TRANSLATED -HP:0033957 Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils NOT_TRANSLATED -HP:0033958 Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells NOT_TRANSLATED -HP:0001191 Abnormal carpal bones NOT_TRANSLATED -HP:0001191 Abnormal wrist bones NOT_TRANSLATED -HP:0001191 Abnormality of the carpal bones NOT_TRANSLATED -HP:0001191 Anomalous carpal bones NOT_TRANSLATED -HP:0001191 Carpal bone anomalies NOT_TRANSLATED -HP:0033959 Arteriosclerosis within interlobular arterial intima/media NOT_TRANSLATED -HP:0033960 Intimal mucoid edema within interlobular arterial intima/media NOT_TRANSLATED -HP:0033961 Cortical radial artery intima/media onion skinning NOT_TRANSLATED -HP:0033961 Multilamellation (onion skinning) within interlobular arterial intima/media NOT_TRANSLATED -HP:0001195 2 vessel cord NOT_TRANSLATED -HP:0001195 2 vessel umbilical cord NOT_TRANSLATED -HP:0001195 Only one artery in umbilical cord instead of two NOT_TRANSLATED -HP:0001195 Two vessel cord NOT_TRANSLATED -HP:0001195 Two vessel umbilical cord NOT_TRANSLATED -HP:0001195 Two-vessel cord NOT_TRANSLATED -HP:0033964 Venosclerosis within interlobular vein intima/media NOT_TRANSLATED -HP:0033965 Intimal mucoid edema within interlobular veins NOT_TRANSLATED -HP:0033966 Amyloidosis within interlobular vein intima/media NOT_TRANSLATED -HP:0001199 Accessory phalanx of the thumb NOT_TRANSLATED -HP:0001199 Digitalized thumb NOT_TRANSLATED -HP:0001199 Finger-like thumb NOT_TRANSLATED -HP:0001199 Triphalangeal thumbs NOT_TRANSLATED -HP:0001199 Triphalangy of thumb NOT_TRANSLATED -HP:0033967 Venulitis within interlobular vein intima/media NOT_TRANSLATED -HP:0033968 Granulomatous venulitis within interlobular vein intima/media NOT_TRANSLATED -HP:0033969 Necrosis within interlobular vein intima/media NOT_TRANSLATED -HP:0033970 Liquefactive necrosis within interlobular vein intima/media NOT_TRANSLATED -HP:0001204 Fused outermost bones of hand NOT_TRANSLATED -HP:0001204 Symphalangism affecting the distal phalanges of the hand NOT_TRANSLATED -HP:0001204 Synostosis of distal phalanges NOT_TRANSLATED -HP:0001204 Terminal symphalangism NOT_TRANSLATED -HP:0033972 Medial atrophy within interlobular veins NOT_TRANSLATED -HP:0033973 Medial hypertrophy within interlobular veins NOT_TRANSLATED -HP:0033974 Interlobular vein intima/media onion skinning NOT_TRANSLATED -HP:0033974 Multilamellation (onion skinning) within interlobular vein intima/media NOT_TRANSLATED -HP:0033976 Palmar fingernail NOT_TRANSLATED -HP:0033976 Ventral fingernail NOT_TRANSLATED -HP:0033977 Absent talus NOT_TRANSLATED -HP:0033977 Talus aplasia NOT_TRANSLATED -HP:0001211 Abnormality of the fingertips NOT_TRANSLATED -HP:0033979 Membranous tracheobronchomalacia NOT_TRANSLATED -HP:0001212 Persistence of fingerpads NOT_TRANSLATED -HP:0001212 Persistent fetal fingertip pads NOT_TRANSLATED -HP:0001212 Persistent foetal fingertip pads NOT_TRANSLATED -HP:0001212 Prominent finger pads NOT_TRANSLATED -HP:0033981 Tortuous vertebral arteries NOT_TRANSLATED -HP:0033983 Decreased plasma apolipoprotein C-II NOT_TRANSLATED -HP:0001216 Carpal delayed ossification NOT_TRANSLATED -HP:0001216 Delayed carpal bone age NOT_TRANSLATED -HP:0001216 Delayed carpal ossification NOT_TRANSLATED -HP:0001216 Delayed maturation of carpal bones NOT_TRANSLATED -HP:0001216 Delayed maturation of wrist bone NOT_TRANSLATED -HP:0033984 Increased urinary 8-oxo-7,8-dihydroguanosine NOT_TRANSLATED -HP:0033984 Increased urinary 8-oxo-Gsn level NOT_TRANSLATED -HP:0033984 Increased urine 8-oxo-7,8-dihydroguanosine NOT_TRANSLATED -HP:0033984 Increased urine 8-oxo-GMP NOT_TRANSLATED -HP:0001217 Clubbing of fingers and toes NOT_TRANSLATED -HP:0001217 Digital clubbing NOT_TRANSLATED -HP:0033985 Long femoral neck NOT_TRANSLATED -HP:0033986 Tortuous lymphatics NOT_TRANSLATED -HP:0001220 Interphalangeal joint flexion contractures NOT_TRANSLATED -HP:0001222 Spoon shaped thumbs NOT_TRANSLATED -HP:0033990 Cartilaginous malacia NOT_TRANSLATED -HP:0001227 Thenar abnormality NOT_TRANSLATED -HP:0001230 Wide long bones of hand NOT_TRANSLATED -HP:0001230 Wide metacarpals NOT_TRANSLATED -HP:0001231 Abnormal fingernails NOT_TRANSLATED -HP:0001231 Abnormality of the fingernails NOT_TRANSLATED -HP:0033999 Bronchial bleeding NOT_TRANSLATED -HP:0001232 Nail bed telangiectases NOT_TRANSLATED -HP:0034000 Tracheal bleeding NOT_TRANSLATED -HP:0001233 Syndactyly 2nd-3rd fingers NOT_TRANSLATED -HP:0001233 Syndactyly, 2-3 finger NOT_TRANSLATED -HP:0001233 Webbed 2nd-3rd fingers NOT_TRANSLATED -HP:0034001 CFH autoantibodies NOT_TRANSLATED -HP:0001234 Abducted thumb NOT_TRANSLATED -HP:0034002 Anti-PLA2R antibody positivity NOT_TRANSLATED -HP:0034003 Medial broadening of eyebrows NOT_TRANSLATED -HP:0001238 Narrow fingers NOT_TRANSLATED -HP:0001238 Slender fingers NOT_TRANSLATED -HP:0001238 thin fingers NOT_TRANSLATED -HP:0001239 Wrist contracture NOT_TRANSLATED -HP:0001239 Wrist flexion deformity NOT_TRANSLATED -HP:0001241 Capitate-hamate fusions NOT_TRANSLATED -HP:0001241 Fused capitate and hamate NOT_TRANSLATED -HP:0001241 Fusion of capitate and hamate NOT_TRANSLATED -HP:0001241 Fusion of hamate and capitate NOT_TRANSLATED -HP:0034011 Non-progressive sperm motility NOT_TRANSLATED -HP:0001245 Decreased thenar eminence NOT_TRANSLATED -HP:0001245 Hypoplastic thenar eminences NOT_TRANSLATED -HP:0001245 Thenar hypoplasia NOT_TRANSLATED -HP:0001245 Thenar muscle hypoplasia NOT_TRANSLATED -HP:0001248 Shortened short tubular bones of the hand NOT_TRANSLATED -HP:0034016 Anti-human leukocyte antigen antibody positivity NOT_TRANSLATED -HP:0001249 Dull intelligence NOT_TRANSLATED -HP:0001249 Low intelligence NOT_TRANSLATED -HP:0001249 Mental deficiency NOT_TRANSLATED -HP:0001249 Mental retardation NOT_TRANSLATED -HP:0001249 Mental retardation, nonspecific NOT_TRANSLATED -HP:0001249 Mental-retardation NOT_TRANSLATED -HP:0001249 Nonprogressive intellectual disability NOT_TRANSLATED -HP:0001249 Nonprogressive mental retardation NOT_TRANSLATED -HP:0001249 Poor school performance NOT_TRANSLATED -HP:0001250 Epilepsy NOT_TRANSLATED -HP:0001250 Epileptic seizure NOT_TRANSLATED -HP:0001250 Seizures NOT_TRANSLATED -HP:0001251 Cerebellar ataxia NOT_TRANSLATED -HP:0001252 Central hypotonia NOT_TRANSLATED -HP:0001252 Low muscle tone NOT_TRANSLATED -HP:0001252 Low or weak muscle tone NOT_TRANSLATED -HP:0001252 Muscle hypotonia NOT_TRANSLATED -HP:0001252 Muscular hypotonia NOT_TRANSLATED -HP:0001252 Peripheral hypotonia NOT_TRANSLATED -HP:0001256 Mentale retardatie, borderline-mild CANDIDATE -HP:0001256 Mentale retardatie, mild CANDIDATE -HP:0001256 Milde en niet progressieve mentale retardatie CANDIDATE -HP:0001256 Milde mentale retardatie CANDIDATE -HP:0001257 Involuntary muscle stiffness, contraction, or spasm NOT_TRANSLATED -HP:0001257 Muscle spasticity NOT_TRANSLATED -HP:0001257 Muscular spasticity NOT_TRANSLATED -HP:0001258 Spastic paraplegia, lower limb NOT_TRANSLATED -HP:0001260 Difficulty articulating speech NOT_TRANSLATED -HP:0001260 Dysarthric speech NOT_TRANSLATED -HP:0001262 Excessive daytime sleepiness NOT_TRANSLATED -HP:0001262 More than typical sleepiness during day NOT_TRANSLATED -HP:0034030 Bluish lips NOT_TRANSLATED -HP:0034030 Cyanotic lips NOT_TRANSLATED -HP:0034030 Labial cyanosis NOT_TRANSLATED -HP:0001263 Cognitive delay NOT_TRANSLATED -HP:0001263 Delayed cognitive development NOT_TRANSLATED -HP:0001263 Delayed development NOT_TRANSLATED -HP:0001263 Delayed developmental milestones NOT_TRANSLATED -HP:0001263 Delayed intellectual development NOT_TRANSLATED -HP:0001263 Delayed milestones NOT_TRANSLATED -HP:0001263 Delayed psychomotor development NOT_TRANSLATED -HP:0001263 Developmental delay NOT_TRANSLATED -HP:0001263 Developmental delay in early childhood NOT_TRANSLATED -HP:0001263 Developmental delay, global NOT_TRANSLATED -HP:0001263 Developmental retardation NOT_TRANSLATED -HP:0001263 Lack of psychomotor development NOT_TRANSLATED -HP:0001263 Mental and motor retardation NOT_TRANSLATED -HP:0001263 Motor and developmental delay NOT_TRANSLATED -HP:0001263 Motormental retardation NOT_TRANSLATED -HP:0001263 Psychomotor delay NOT_TRANSLATED -HP:0001263 Psychomotor development deficiency NOT_TRANSLATED -HP:0001263 Psychomotor development failure NOT_TRANSLATED -HP:0001263 Psychomotor developmental delay NOT_TRANSLATED -HP:0001263 Retarded development NOT_TRANSLATED -HP:0001263 Retarded mental development NOT_TRANSLATED -HP:0001263 Retarded psychomotor development NOT_TRANSLATED -HP:0034031 Bluish face NOT_TRANSLATED -HP:0034031 Cyanotic face NOT_TRANSLATED -HP:0001264 Spastic diparesis NOT_TRANSLATED -HP:0001264 Spastic diplegic NOT_TRANSLATED -HP:0001265 Decreased reflex response NOT_TRANSLATED -HP:0001265 Decreased reflexes NOT_TRANSLATED -HP:0001266 Choreoathetoid movements NOT_TRANSLATED -HP:0034035 Fluid from the pharynx NOT_TRANSLATED -HP:0034035 Pharyngeal fluid NOT_TRANSLATED -HP:0001268 Cognitive decline NOT_TRANSLATED -HP:0001268 Cognitive decline, progressive NOT_TRANSLATED -HP:0001268 Intellectual deterioration NOT_TRANSLATED -HP:0001268 Progressive cognitive decline NOT_TRANSLATED -HP:0034036 Chilblain-like toe lesions NOT_TRANSLATED -HP:0034036 Chilblain-like toes NOT_TRANSLATED -HP:0034036 COVID toe NOT_TRANSLATED -HP:0001269 Weakness of one side of body NOT_TRANSLATED -HP:0034037 COVID finger NOT_TRANSLATED -HP:0034037 COVID fingers NOT_TRANSLATED -HP:0001270 Delay in motor development NOT_TRANSLATED -HP:0001270 Delayed early motor milestones NOT_TRANSLATED -HP:0001270 Delayed motor development NOT_TRANSLATED -HP:0001270 Delayed motor milestones NOT_TRANSLATED -HP:0001270 Locomotor delay NOT_TRANSLATED -HP:0001270 Motor developmental delay NOT_TRANSLATED -HP:0001270 Motor developmental milestones not achieved NOT_TRANSLATED -HP:0001270 Motor retardation NOT_TRANSLATED -HP:0001270 No development of motor milestones NOT_TRANSLATED -HP:0001270 Retarded motor development NOT_TRANSLATED -HP:0001271 Peripheral nerve disease NOT_TRANSLATED -HP:0034039 Doublet premature ventricular contractions NOT_TRANSLATED -HP:0001272 Atrophic cerebellum NOT_TRANSLATED -HP:0001272 Degeneration of cerebellum NOT_TRANSLATED -HP:0001272 Infratentorial atrophy NOT_TRANSLATED -HP:0001273 Abnormal corpus callosum NOT_TRANSLATED -HP:0001273 Abnormality of the corpus callosum NOT_TRANSLATED -HP:0001273 Corpus callosum abnormality NOT_TRANSLATED -HP:0001274 Absence of corpus callosum NOT_TRANSLATED -HP:0001274 Absent corpus callosum NOT_TRANSLATED -HP:0001274 Agenesis of the corpus callosum NOT_TRANSLATED -HP:0001274 Callosal agenesis NOT_TRANSLATED -HP:0001274 Corpus callosum agenesis NOT_TRANSLATED -HP:0001274 Dysplastic or absent corpus callosum NOT_TRANSLATED -HP:0001276 Hypertonicity NOT_TRANSLATED -HP:0001276 Increased muscle tone NOT_TRANSLATED -HP:0001276 Muscle hypertonia NOT_TRANSLATED -HP:0001276 Spasticity and rigidity of muscles NOT_TRANSLATED -HP:0034044 Trident sign NOT_TRANSLATED -HP:0034045 Angular muscle fibers NOT_TRANSLATED -HP:0001278 Decrease in blood pressure upon standing up NOT_TRANSLATED -HP:0001278 Postural hypotension NOT_TRANSLATED -HP:0001279 Fainting spell NOT_TRANSLATED -HP:0034048 Decreased circulating chenodiol concentration NOT_TRANSLATED -HP:0001281 Intermittent involuntary muscle spasm NOT_TRANSLATED -HP:0034049 Elevated urinary PGE2 level NOT_TRANSLATED -HP:0001283 Bulbar muscle weakness NOT_TRANSLATED -HP:0001283 Bulbar palsies NOT_TRANSLATED -HP:0001283 Bulbar weakness NOT_TRANSLATED -HP:0001284 Absent deep tendon reflexes NOT_TRANSLATED -HP:0001284 Absent reflexes NOT_TRANSLATED -HP:0001284 Absent tendon reflexes NOT_TRANSLATED -HP:0001284 Deep tendon reflexes absent NOT_TRANSLATED -HP:0001284 Loss of deep tendon reflexes NOT_TRANSLATED -HP:0001285 Spastic quadriparesis NOT_TRANSLATED -HP:0034055 Anti-P450scc NOT_TRANSLATED -HP:0001288 Abnormal gait NOT_TRANSLATED -HP:0001288 Abnormal walk NOT_TRANSLATED -HP:0001288 Gait abnormalities NOT_TRANSLATED -HP:0001288 Gait difficulties NOT_TRANSLATED -HP:0001288 Gait disturbances NOT_TRANSLATED -HP:0001288 Impaired gait NOT_TRANSLATED -HP:0001289 Disorientation NOT_TRANSLATED -HP:0001289 Easily confused NOT_TRANSLATED -HP:0001289 Mental disorientation NOT_TRANSLATED -HP:0001290 Generalised decreased muscle tone NOT_TRANSLATED -HP:0001290 Generalised hypotonia NOT_TRANSLATED -HP:0001290 Generalised muscular hypotonia NOT_TRANSLATED -HP:0001290 Generalized decreased muscle tone NOT_TRANSLATED -HP:0001290 Generalized muscular hypotonia NOT_TRANSLATED -HP:0001290 Hypotonia, generalised NOT_TRANSLATED -HP:0001290 Hypotonia, generalized NOT_TRANSLATED -HP:0034058 Structural fetal anomaly NOT_TRANSLATED -HP:0001291 Abnormality of cranial nerve NOT_TRANSLATED -HP:0001291 Abnormality of the cranial nerves NOT_TRANSLATED -HP:0001291 Cranial nerve abnormality NOT_TRANSLATED -HP:0001291 Cranial nerve disease NOT_TRANSLATED -HP:0001291 Cranial nerve involvement NOT_TRANSLATED -HP:0034059 Functional fetal anomaly NOT_TRANSLATED -HP:0034061 Anti-P450C17 NOT_TRANSLATED -HP:0034062 IAA positivity NOT_TRANSLATED -HP:0034062 Insulin autoantibodies NOT_TRANSLATED -HP:0034063 Anti-IA2 antibody positivity NOT_TRANSLATED -HP:0034063 Anti-IA2A NOT_TRANSLATED -HP:0034063 ICA512 NOT_TRANSLATED -HP:0034064 Anti-SP1 antibody positivity NOT_TRANSLATED -HP:0001297 Cerebral vascular events NOT_TRANSLATED -HP:0001297 Cerebrovascular accident NOT_TRANSLATED -HP:0001297 Cerebrovascular accidents NOT_TRANSLATED -HP:0034065 Anti ZnT8 autoantibodies NOT_TRANSLATED -HP:0034066 Anti-CA6 antibody positivity NOT_TRANSLATED -HP:0034067 Clumping of the keratin tonofilaments NOT_TRANSLATED -HP:0001300 Parkinsonian disease NOT_TRANSLATED -HP:0034068 Anti-PBP antibody positivity NOT_TRANSLATED -HP:0034069 Anti-PSP antibody positivity NOT_TRANSLATED -HP:0001302 Cerebral pachygyria NOT_TRANSLATED -HP:0001302 Fewer and broader ridges in brain NOT_TRANSLATED -HP:0034070 AEA NOT_TRANSLATED -HP:0034071 Anti-P450c21 NOT_TRANSLATED -HP:0001304 Dystonia musculorum deformans NOT_TRANSLATED -HP:0001305 Dandy-walker anomaly NOT_TRANSLATED -HP:0001305 Dandy-Walker cyst NOT_TRANSLATED -HP:0001308 Lingual fasciculations NOT_TRANSLATED -HP:0001308 Lingual fibrillations NOT_TRANSLATED -HP:0001308 Lingual twitching NOT_TRANSLATED -HP:0001308 Tongue fasciculation NOT_TRANSLATED -HP:0001308 Tongue fasciculations/fibrillations NOT_TRANSLATED -HP:0001308 Tongue twitching NOT_TRANSLATED -HP:0001308 Twitching of the tongue NOT_TRANSLATED -HP:0034077 Anti-C1q antibody positivity NOT_TRANSLATED -HP:0001310 Abnormal finger chase test NOT_TRANSLATED -HP:0001310 Abnormal finger-nose-finger test NOT_TRANSLATED -HP:0001310 Lack of coordination of movement NOT_TRANSLATED -HP:0034078 Anti-CENP-A antibody positivity NOT_TRANSLATED -HP:0001311 Neurophysiologic abnormalities NOT_TRANSLATED -HP:0001311 Neurophysiologic abnormality NOT_TRANSLATED -HP:0034079 Anti-CENP-B antibody positivity NOT_TRANSLATED -HP:0001312 Giant SEPS NOT_TRANSLATED -HP:0034080 Anti-fibrillarin antibody positivity NOT_TRANSLATED -HP:0034082 Anti-BICD2 antibody positivity NOT_TRANSLATED -HP:0001315 Absent or decreased deep tendon reflexes NOT_TRANSLATED -HP:0001315 Decreased deep tendon reflexes NOT_TRANSLATED -HP:0001315 Decreased tendon reflexes NOT_TRANSLATED -HP:0001315 Decreased to absent deep tendon reflexes NOT_TRANSLATED -HP:0001315 Decreased/absent deep tendon reflexes NOT_TRANSLATED -HP:0001315 Depressed tendon reflexes NOT_TRANSLATED -HP:0001315 Diminished deep tendon reflexes NOT_TRANSLATED -HP:0001315 Diminished or absent deep tendon reflexes NOT_TRANSLATED -HP:0001315 Diminished or absent tendon reflexes NOT_TRANSLATED -HP:0001315 Hypoactive to absent deep tendon reflexes NOT_TRANSLATED -HP:0001315 Impaired tendon reflexes NOT_TRANSLATED -HP:0001315 Reduced/absent deep tendon reflexes NOT_TRANSLATED -HP:0001315 Weak or absent deep tendon reflexes NOT_TRANSLATED -HP:0034083 Anti-Nor90 antibody positivity NOT_TRANSLATED -HP:0001317 Abnormality of the cerebellum NOT_TRANSLATED -HP:0001317 Cerebellar abnormalities NOT_TRANSLATED -HP:0001317 Cerebellar abnormality NOT_TRANSLATED -HP:0001317 Cerebellar anomaly NOT_TRANSLATED -HP:0001317 Cerebellar signs NOT_TRANSLATED -HP:0001319 Congenital hypotonia NOT_TRANSLATED -HP:0001319 Hypotonia, in neonatal onset NOT_TRANSLATED -HP:0001319 Hypotonia, neonatal NOT_TRANSLATED -HP:0001319 Low muscle tone, in neonatal onset NOT_TRANSLATED -HP:0001320 Cerebellar vermal hypoplasia NOT_TRANSLATED -HP:0001320 Hypoplasia of the cerebellar vermis NOT_TRANSLATED -HP:0001320 Hypoplastic cerebellar vermis NOT_TRANSLATED -HP:0001321 Congenital cerebellar hypoplasia NOT_TRANSLATED -HP:0001321 Hypoplasia of cerebellum NOT_TRANSLATED -HP:0001321 Hypoplastic cerebellum NOT_TRANSLATED -HP:0001321 Small cerebellum NOT_TRANSLATED -HP:0001321 Underdeveloped cerebellum NOT_TRANSLATED -HP:0034091 Anti-PDGFR antibody positivity NOT_TRANSLATED -HP:0001324 Muscular weakness NOT_TRANSLATED -HP:0034092 Anti-CCP antibody positivity NOT_TRANSLATED -HP:0001325 Coma caused by low blood sugar NOT_TRANSLATED -HP:0001325 Coma, hypoglycemic NOT_TRANSLATED -HP:0001325 Hypoglycaemic coma NOT_TRANSLATED -HP:0001325 Loss of consciousness due to hypoglycemia NOT_TRANSLATED -HP:0034093 Anti-Ro52 antibody positivity NOT_TRANSLATED -HP:0001326 EEG with irregular generalised spike and wave complexes NOT_TRANSLATED -HP:0034094 Anti-AT1R antibody positivity NOT_TRANSLATED -HP:0001327 Photically induced myoclonic seizure NOT_TRANSLATED -HP:0001327 Photomyoclonic seizure NOT_TRANSLATED -HP:0001327 Photomyoclonic seizures NOT_TRANSLATED -HP:0034095 Anti-ETAR antibody positivity NOT_TRANSLATED -HP:0001331 Absence of septum pellucidum NOT_TRANSLATED -HP:0001331 Absence of the septum pellucidum NOT_TRANSLATED -HP:0001331 Agenesis of the septum pellucidum NOT_TRANSLATED -HP:0001331 Missing septum pellucidum NOT_TRANSLATED -HP:0001332 Dystonic disease NOT_TRANSLATED -HP:0001332 Dystonic movements NOT_TRANSLATED -HP:0001335 Hand mirror movements NOT_TRANSLATED -HP:0001335 Mirror hand movements NOT_TRANSLATED -HP:0001335 Mirror movements NOT_TRANSLATED -HP:0034103 Anti-ganglioside-monosialic acid antibody positivity NOT_TRANSLATED -HP:0001336 Involuntary jerking movements NOT_TRANSLATED -HP:0001336 Jerking NOT_TRANSLATED -HP:0001336 Myoclonic jerks NOT_TRANSLATED -HP:0001337 Tremors NOT_TRANSLATED -HP:0034105 Anti-TIF-1gamma antibody positivity NOT_TRANSLATED -HP:0034105 Anti-TIF1-gamma antibody positivity NOT_TRANSLATED -HP:0001338 Corpus callosum agenesis, partial NOT_TRANSLATED -HP:0001338 Partial agenesis of corpus callosum NOT_TRANSLATED -HP:0001338 Partial corpus callosum agenesis NOT_TRANSLATED -HP:0001338 Partial or complete agenesis of corpus callosum NOT_TRANSLATED -HP:0001338 Partial or complete agenesis of the corpus callosum NOT_TRANSLATED -HP:0001338 Partial to complete agenesis of corpus callosum NOT_TRANSLATED -HP:0001338 Partial-total agenesis of corpus callosum NOT_TRANSLATED -HP:0034106 Anti-Ago2 antibody positivity NOT_TRANSLATED -HP:0034106 Anti-Su antibody positivity NOT_TRANSLATED -HP:0001339 Fewer or absent grooves in brain NOT_TRANSLATED -HP:0034108 Anti-YB 1 antibody positivity NOT_TRANSLATED -HP:0001341 Olfactory lobe absence NOT_TRANSLATED -HP:0001342 Bleeding in brain NOT_TRANSLATED -HP:0001342 Cerebral haemorrhage NOT_TRANSLATED -HP:0001342 Hemorrhagic stroke NOT_TRANSLATED -HP:0001342 Intracerebral haemorrhage NOT_TRANSLATED -HP:0001342 Intracerebral hemorrhage NOT_TRANSLATED -HP:0034110 Anti-Ge-1 antibody positivity NOT_TRANSLATED -HP:0001344 Absent speech development NOT_TRANSLATED -HP:0001344 Lack of language development NOT_TRANSLATED -HP:0001344 Lack of speech NOT_TRANSLATED -HP:0001344 No speech development NOT_TRANSLATED -HP:0001344 No speech or language development NOT_TRANSLATED -HP:0001344 Nonverbal NOT_TRANSLATED -HP:0034114 Anti-HK-1 antibody positivity NOT_TRANSLATED -HP:0001347 Increased deep tendon reflexes NOT_TRANSLATED -HP:0001347 Increased reflexes NOT_TRANSLATED -HP:0034115 Anti-KLHL-12 antibody positivity NOT_TRANSLATED -HP:0001348 Brisk deep tendon reflexes NOT_TRANSLATED -HP:0001349 Bilateral facial weakness NOT_TRANSLATED -HP:0001349 Facial paresis, bilateral NOT_TRANSLATED -HP:0034117 Anti-ACE2 antibody positivity NOT_TRANSLATED -HP:0001355 Enlarged brain NOT_TRANSLATED -HP:0001355 Macrencephaly NOT_TRANSLATED -HP:0001357 Asymmetry of the posterior cranium NOT_TRANSLATED -HP:0001357 Asymmetry of the posterior head NOT_TRANSLATED -HP:0001357 Asymmetry of the posterior skull NOT_TRANSLATED -HP:0001357 Deformational plagiocephaly NOT_TRANSLATED -HP:0001357 Flat head NOT_TRANSLATED -HP:0001357 Flat head syndrome NOT_TRANSLATED -HP:0001357 Flattening of cranial vault NOT_TRANSLATED -HP:0001357 Flattening of cranium NOT_TRANSLATED -HP:0001357 Flattening of head NOT_TRANSLATED -HP:0001357 Flattening of skull NOT_TRANSLATED -HP:0001357 Positional plagiocephaly NOT_TRANSLATED -HP:0001357 Rhomboid shaped cranium NOT_TRANSLATED -HP:0001357 Rhomboid shaped head NOT_TRANSLATED -HP:0001357 Rhomboid shaped skull NOT_TRANSLATED -HP:0001360 Single brain ventricle NOT_TRANSLATED -HP:0001362 Calvarial defect NOT_TRANSLATED -HP:0001362 Cranial defect NOT_TRANSLATED -HP:0001362 Skull defect NOT_TRANSLATED -HP:0001363 Cranial suture synostosis NOT_TRANSLATED -HP:0001363 Craniostenosis NOT_TRANSLATED -HP:0001363 Craniosyostosis NOT_TRANSLATED -HP:0001363 Deformity of the skull NOT_TRANSLATED -HP:0001363 Early fusion of cranial sutures NOT_TRANSLATED -HP:0001363 Premature closure of cranial sutures NOT_TRANSLATED -HP:0001363 Premature fontanel closure NOT_TRANSLATED -HP:0001363 Premature suture closure NOT_TRANSLATED -HP:0001367 Abnormal shape of joints NOT_TRANSLATED -HP:0001367 Abnormality of the joints NOT_TRANSLATED -HP:0001367 Anomaly of the joints NOT_TRANSLATED -HP:0001367 Joint disease NOT_TRANSLATED -HP:0034135 Anti-NF155 antibody positivity NOT_TRANSLATED -HP:0034136 Anti-NF186 antibody positivity NOT_TRANSLATED -HP:0001369 Joint inflammation NOT_TRANSLATED -HP:0034137 Anti-CNTN1 antibody positivity NOT_TRANSLATED -HP:0001370 RA NOT_TRANSLATED -HP:0034138 Anti-CASPR1 antibody positivity NOT_TRANSLATED -HP:0001371 Flexed joint that cannot be straightened NOT_TRANSLATED -HP:0001371 Flexion contractures NOT_TRANSLATED -HP:0001371 Flexion contractures of joints NOT_TRANSLATED -HP:0034139 Anti-SAE antibody positivity NOT_TRANSLATED -HP:0034139 Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity NOT_TRANSLATED -HP:0001373 Joint dislocations NOT_TRANSLATED -HP:0034141 Anti-SAE 2 antibody positivity NOT_TRANSLATED -HP:0001374 Congenital dislocation of the hip NOT_TRANSLATED -HP:0001374 Congenital dislocation of the hips NOT_TRANSLATED -HP:0001374 Congenital hip anomaly NOT_TRANSLATED -HP:0001374 Congenital hip dislocations NOT_TRANSLATED -HP:0001374 Dislocated hip since birth NOT_TRANSLATED -HP:0034142 Anti-MJ/NXP-2 antibody positivity NOT_TRANSLATED -HP:0034142 Anti-NXP-2 antibody positivity NOT_TRANSLATED -HP:0034143 Anti-PL-7 antibody positivity NOT_TRANSLATED -HP:0001376 Decreased joint mobility NOT_TRANSLATED -HP:0001376 Decreased mobility of joints NOT_TRANSLATED -HP:0001376 Limited joint mobility NOT_TRANSLATED -HP:0001376 Limited joint motion NOT_TRANSLATED -HP:0034144 Anti-Ro60 antibody positivity NOT_TRANSLATED -HP:0001377 Decreased elbow extension NOT_TRANSLATED -HP:0001377 Elbow limited extension NOT_TRANSLATED -HP:0001377 Limitation of elbow extension NOT_TRANSLATED -HP:0001377 Limited extension at elbows NOT_TRANSLATED -HP:0001377 Limited forearm extension NOT_TRANSLATED -HP:0001377 Restricted elbow extension NOT_TRANSLATED -HP:0034145 Anti-PL-12 antibody positivity NOT_TRANSLATED -HP:0034146 Anti-EJ antibody positivity NOT_TRANSLATED -HP:0034148 Anti-OJ antibody positivity NOT_TRANSLATED -HP:0034149 Anti-Zo alpha antibody positivity NOT_TRANSLATED -HP:0034149 Anti-Zo antibody positivity NOT_TRANSLATED -HP:0034149 Phenylanyl-t-RNA synthetase alpha antibody positivity NOT_TRANSLATED -HP:0001382 Double-Jointed NOT_TRANSLATED -HP:0001382 Extensible joints NOT_TRANSLATED -HP:0001382 Flexible joints NOT_TRANSLATED -HP:0001382 Hyperextensible joints NOT_TRANSLATED -HP:0001382 Increased joint mobility NOT_TRANSLATED -HP:0001382 Increased mobility of joints NOT_TRANSLATED -HP:0001382 Joint hyperextensibility NOT_TRANSLATED -HP:0034150 Anti-Ha antibody positivity NOT_TRANSLATED -HP:0034151 Anti-KS antibody positivity NOT_TRANSLATED -HP:0001384 Abnormality of the hip joint NOT_TRANSLATED -HP:0001384 Abnormality of the hip joints NOT_TRANSLATED -HP:0034152 Anti-Jo-1 antibody positivity NOT_TRANSLATED -HP:0034152 Anti-JO1 antibody positivity NOT_TRANSLATED -HP:0001385 Abnormal formation of the hip NOT_TRANSLATED -HP:0001385 Congenital hip dysplasia NOT_TRANSLATED -HP:0034153 Anti-cN1A antibody positivity NOT_TRANSLATED -HP:0001387 Stiff joint NOT_TRANSLATED -HP:0001387 Stiff joints NOT_TRANSLATED -HP:0001388 Hyperlaxity NOT_TRANSLATED -HP:0001388 Joint instability NOT_TRANSLATED -HP:0001388 Joint ligamentous laxity NOT_TRANSLATED -HP:0001388 Lax joints NOT_TRANSLATED -HP:0001388 Ligamentous laxity NOT_TRANSLATED -HP:0001388 Loose-jointedness NOT_TRANSLATED -HP:0001388 Loosejointedness NOT_TRANSLATED -HP:0034156 Anti-beta2GPI IgG antibody positivity NOT_TRANSLATED -HP:0034157 Anti-beta2GPI IgM antibody positivity NOT_TRANSLATED -HP:0034158 Anti-PTPA antibody positivity NOT_TRANSLATED -HP:0001392 Abnormal liver NOT_TRANSLATED -HP:0001392 Liver abnormality NOT_TRANSLATED -HP:0001392 Liver disease NOT_TRANSLATED -HP:0001394 Hepatic cirrhosis NOT_TRANSLATED -HP:0001394 Liver cirrhosis NOT_TRANSLATED -HP:0001394 Scar tissue replaces healthy tissue in the liver NOT_TRANSLATED -HP:0001395 Liver fibrosis NOT_TRANSLATED -HP:0001396 Slowed or blocked flow of bile from liver NOT_TRANSLATED -HP:0001397 Fatty infiltration of liver NOT_TRANSLATED -HP:0001397 Fatty liver NOT_TRANSLATED -HP:0001397 Liver steatosis NOT_TRANSLATED -HP:0001397 Steatosis NOT_TRANSLATED -HP:0001399 Liver failure NOT_TRANSLATED -HP:0001402 Increased hepatocellular carcinoma risk NOT_TRANSLATED -HP:0001402 Increased incidence of hepatocellular carcinoma NOT_TRANSLATED -HP:0001403 Macrovesicular steatosis NOT_TRANSLATED -HP:0001404 Death of liver cells NOT_TRANSLATED -HP:0001404 Hepatocellular loss NOT_TRANSLATED -HP:0001406 Impaired release of bile from liver NOT_TRANSLATED -HP:0001407 Liver cysts NOT_TRANSLATED -HP:0001408 Proliferation of bile canaliculi NOT_TRANSLATED -HP:0001410 Hepatopathy NOT_TRANSLATED -HP:0001410 Liver dysfunction NOT_TRANSLATED -HP:0001410 Liver dysfunction, mild NOT_TRANSLATED -HP:0001414 Microvesicular steatosis NOT_TRANSLATED -HP:0034184 Increased circulating IGFALS contration NOT_TRANSLATED -HP:0001417 monoallelic_X_hemizygous NOT_TRANSLATED -HP:0001417 X-linked NOT_TRANSLATED -HP:0001417 X-linked form NOT_TRANSLATED -HP:0001419 X-linked recessive NOT_TRANSLATED -HP:0001421 Abnormal hand muscles NOT_TRANSLATED -HP:0034189 Anti-TSH receptor antibody positivity NOT_TRANSLATED -HP:0034189 TRAbs NOT_TRANSLATED -HP:0001423 X-linked dominant NOT_TRANSLATED -HP:0034193 Blistering with cleavage within basal keratinocytes NOT_TRANSLATED -HP:0034193 Cleavage within the basal keratinocyte layer NOT_TRANSLATED -HP:0001426 Familial predisposition NOT_TRANSLATED -HP:0034194 Blistering with suprabasal clefting NOT_TRANSLATED -HP:0001427 Mitochondrial NOT_TRANSLATED -HP:0001427 mitochondrial NOT_TRANSLATED -HP:0034196 Agenesis of the ductus venosus NOT_TRANSLATED -HP:0001430 Abnormal calf muscles NOT_TRANSLATED -HP:0001430 Abnormality of calf musculature NOT_TRANSLATED -HP:0034199 Early fetal onset NOT_TRANSLATED -HP:0001433 Enlarged liver and spleen NOT_TRANSLATED -HP:0001435 Abnormality of shoulder musculature NOT_TRANSLATED -HP:0001436 Abnormal foot muscles NOT_TRANSLATED -HP:0001438 Abdomen abnormality NOT_TRANSLATED -HP:0001438 Abnormality of abdomen morphology NOT_TRANSLATED -HP:0001438 Abnormality of abdomen structure NOT_TRANSLATED -HP:0001438 Abnormality of the abdomen NOT_TRANSLATED -HP:0034206 Abnormal fetal CNS morphology NOT_TRANSLATED -HP:0001440 Fusion of metatarsals NOT_TRANSLATED -HP:0001440 Fusion of the long bones of the feet NOT_TRANSLATED -HP:0001440 Synostosis involving metatarsal bones NOT_TRANSLATED -HP:0001441 Abnormal thigh muscles NOT_TRANSLATED -HP:0034209 Grade I fetal intracranial hemorrhage NOT_TRANSLATED -HP:0001443 Abnormality of glutes NOT_TRANSLATED -HP:0001446 Abnormal upper limb muscles NOT_TRANSLATED -HP:0034214 Grade II fetal intracranial hemorrhage NOT_TRANSLATED -HP:0001449 Duplication of long bones of foot NOT_TRANSLATED -HP:0001450 monoallelic_Y_hemizygous NOT_TRANSLATED -HP:0001450 Y-linked NOT_TRANSLATED -HP:0034218 Grade III fetal intracranial hemorrhage NOT_TRANSLATED -HP:0034219 Grade IV fetal intracranial hemorrhage NOT_TRANSLATED -HP:0034223 Elevated umbilical artery Dopplers NOT_TRANSLATED -HP:0034223 Increased umbilical artery pulsatility index NOT_TRANSLATED -HP:0001459 Webbed 1st-3rd toes NOT_TRANSLATED -HP:0001460 Absent/small skeletal muscles NOT_TRANSLATED -HP:0001460 Absent/underdeveloped skeletal muscles NOT_TRANSLATED -HP:0034230 Type A cross fused renal ectopia NOT_TRANSLATED -HP:0034231 S-shaped kidney NOT_TRANSLATED -HP:0034231 Type B cross fused renal ectopia NOT_TRANSLATED -HP:0001464 Absent/small shoulder muscles NOT_TRANSLATED -HP:0001464 Absent/underdeveloped shoulder muscles NOT_TRANSLATED -HP:0034232 Type C cross fused renal ectopia NOT_TRANSLATED -HP:0001465 Shoulder muscle degeneration NOT_TRANSLATED -HP:0001465 Wasting of shoulder muscles NOT_TRANSLATED -HP:0034233 Type D cross fused renal ectopia NOT_TRANSLATED -HP:0034234 Tandem kidney NOT_TRANSLATED -HP:0034234 Type E cross fused renal ectopia NOT_TRANSLATED -HP:0001467 Absent/small upper limb muscles NOT_TRANSLATED -HP:0001467 Absent/underdeveloped upper limb muscles NOT_TRANSLATED -HP:0001468 Absent/small upper arm muscles NOT_TRANSLATED -HP:0001468 Absent/underdeveloped upper arm muscles NOT_TRANSLATED -HP:0034236 AOP NOT_TRANSLATED -HP:0001469 Abnormality of the musculature of the pelvis NOT_TRANSLATED -HP:0001471 Absent/small pelvis muscles NOT_TRANSLATED -HP:0001471 Absent/underdeveloped pelvis muscles NOT_TRANSLATED -HP:0001473 Osteolysis involving metatarsal bones NOT_TRANSLATED -HP:0034241 Death before birth NOT_TRANSLATED -HP:0034241 Intrauterine death NOT_TRANSLATED -HP:0001476 Delayed closure anterior fontanel NOT_TRANSLATED -HP:0001476 Delayed closure of anterior fontanelle NOT_TRANSLATED -HP:0001476 Delayed closure of the bregma sutures NOT_TRANSLATED -HP:0001476 Delayed closure of the soft spot on the skull NOT_TRANSLATED -HP:0001476 Late closure of anterior fontanelle NOT_TRANSLATED -HP:0001476 Late closure of large anterior fontanel NOT_TRANSLATED -HP:0001476 Late closure of soft spot on the skull NOT_TRANSLATED -HP:0001476 Late closure of the bregma sutures NOT_TRANSLATED -HP:0001476 Later than typical closing of soft spot of skull NOT_TRANSLATED -HP:0001476 Persistent anterior fontanelle NOT_TRANSLATED -HP:0001477 Compensatory head tilt/chin elevation NOT_TRANSLATED -HP:0001482 Firm lump under the skin NOT_TRANSLATED -HP:0001482 Growth of abnormal tissue under the skin NOT_TRANSLATED -HP:0001482 Multiple, subcutaneous nodules NOT_TRANSLATED -HP:0001482 Nodule below the skin NOT_TRANSLATED -HP:0001482 Subcutaneous nodules NOT_TRANSLATED -HP:0001483 Ocular auto-stimulation NOT_TRANSLATED -HP:0001483 Oculodigital phenomenon NOT_TRANSLATED -HP:0034254 Midbrain panda sign NOT_TRANSLATED -HP:0034255 Colovesicular fistula NOT_TRANSLATED -HP:0034255 Vesicocolic fistula NOT_TRANSLATED -HP:0001488 Drooping of both upper eyelids NOT_TRANSLATED -HP:0001489 Vitreous detachment NOT_TRANSLATED -HP:0034258 Aplasia/Hypoplasia of the mesencephalon NOT_TRANSLATED -HP:0001491 CFEOM NOT_TRANSLATED -HP:0001491 Congenital fibrosis of the extraocular muscles NOT_TRANSLATED -HP:0001491 Congenital ophthalmoplegia NOT_TRANSLATED -HP:0034259 Hypoplasia of the mesencephalon NOT_TRANSLATED -HP:0034259 Hypoplastic mesencephalon NOT_TRANSLATED -HP:0001493 Congenital retinal fold NOT_TRANSLATED -HP:0001495 Carpal bone osteolysis NOT_TRANSLATED -HP:0034264 Bleeding after sex NOT_TRANSLATED -HP:0034265 Breast pain NOT_TRANSLATED -HP:0034265 Painful breast NOT_TRANSLATED -HP:0001498 Hypoplasia of carpal bones NOT_TRANSLATED -HP:0001498 Hypoplastic carpal bones NOT_TRANSLATED -HP:0001498 Small carpal bones NOT_TRANSLATED -HP:0001498 Small carpals NOT_TRANSLATED -HP:0001498 Small wrist bones NOT_TRANSLATED -HP:0034267 Pain in the pelvis NOT_TRANSLATED -HP:0001500 Broad fingers NOT_TRANSLATED -HP:0001500 Wide fingers NOT_TRANSLATED -HP:0001501 6 long bones of hand NOT_TRANSLATED -HP:0034270 Jagged incisors NOT_TRANSLATED -HP:0001504 Metacarpals osteolysis NOT_TRANSLATED -HP:0034273 Premature facial sagging NOT_TRANSLATED -HP:0001507 Abnormal growth NOT_TRANSLATED -HP:0001507 Growth issue NOT_TRANSLATED -HP:0001508 Faltering weight NOT_TRANSLATED -HP:0001508 Poor weight gain NOT_TRANSLATED -HP:0001508 Postnatal failure to thrive NOT_TRANSLATED -HP:0001508 Undergrowth NOT_TRANSLATED -HP:0001508 Weight faltering NOT_TRANSLATED -HP:0034276 Increased serum thymidine NOT_TRANSLATED -HP:0001510 Delayed growth NOT_TRANSLATED -HP:0001510 Growth deficiency NOT_TRANSLATED -HP:0001510 Growth failure NOT_TRANSLATED -HP:0001510 Growth retardation NOT_TRANSLATED -HP:0001510 Poor growth NOT_TRANSLATED -HP:0001510 Retarded growth NOT_TRANSLATED -HP:0001510 Very poor growth NOT_TRANSLATED -HP:0034278 Bone marrow: multinucleated erythroblasts NOT_TRANSLATED -HP:0034278 Multinucleate erythroblast NOT_TRANSLATED -HP:0001511 In utero growth retardation NOT_TRANSLATED -HP:0001511 Intrauterine growth failure NOT_TRANSLATED -HP:0001511 Intrauterine growth restriction NOT_TRANSLATED -HP:0001511 Intrauterine growth retardation, IUGR NOT_TRANSLATED -HP:0001511 Intrauterine retardation NOT_TRANSLATED -HP:0001511 IUGR NOT_TRANSLATED -HP:0001511 Prenatal growth deficiency NOT_TRANSLATED -HP:0001511 Prenatal growth failure NOT_TRANSLATED -HP:0001511 Prenatal growth retardation NOT_TRANSLATED -HP:0001511 Prenatal onset growth retardation NOT_TRANSLATED -HP:0001511 Prenatal-onset growth retardation NOT_TRANSLATED -HP:0001511 Small for gestational age infant NOT_TRANSLATED -HP:0034279 2,8-dihydroxyadenine urinary crystals NOT_TRANSLATED -HP:0034280 Codocytes NOT_TRANSLATED -HP:0001513 Having too much body fat NOT_TRANSLATED -HP:0034281 Cone-shaped epiphyses of phalanges NOT_TRANSLATED -HP:0034281 Cone-shaped phalangeal epiphyses NOT_TRANSLATED -HP:0001518 Birth weight less than 10th percentile NOT_TRANSLATED -HP:0001518 Low birth weight NOT_TRANSLATED -HP:0001519 Dolichostenomelia NOT_TRANSLATED -HP:0001519 Marfanoid body habitus NOT_TRANSLATED -HP:0001519 Marfanoid habitus NOT_TRANSLATED -HP:0001519 Reduced upper-lower segment ratio NOT_TRANSLATED -HP:0001520 Birth weight > 90th percentile NOT_TRANSLATED -HP:0001520 Birthweight > 90th percentile NOT_TRANSLATED -HP:0001520 Fetal macrosomia NOT_TRANSLATED -HP:0001520 Foetal macrosomia NOT_TRANSLATED -HP:0001520 Macrosomia NOT_TRANSLATED -HP:0001520 Macrosomia, neonatal NOT_TRANSLATED -HP:0034288 Elevated circulating reverse triiodothyronine concentration NOT_TRANSLATED -HP:0034288 Elevated rT3 NOT_TRANSLATED -HP:0001522 Death in early childhood NOT_TRANSLATED -HP:0001522 Infantile death NOT_TRANSLATED -HP:0001522 Lethal in infancy NOT_TRANSLATED -HP:0001525 Marked failure to thrive NOT_TRANSLATED -HP:0001525 Severe faltering weight NOT_TRANSLATED -HP:0001525 Severe postnatal failure to thrive NOT_TRANSLATED -HP:0001525 Severe weight faltering NOT_TRANSLATED -HP:0034295 White matter loss NOT_TRANSLATED -HP:0001528 Asymmetric limb hypertrophy NOT_TRANSLATED -HP:0001528 Asymmetric overgrowth NOT_TRANSLATED -HP:0001530 Mild growth deficiency NOT_TRANSLATED -HP:0001530 Postnatal onset of mild growth retardation NOT_TRANSLATED -HP:0034298 Elevated circulating cerotic acid concentration NOT_TRANSLATED -HP:0001531 Failure to thrive in first year of life NOT_TRANSLATED -HP:0001531 Faltering weight in infancy NOT_TRANSLATED -HP:0001531 Weight faltering in infancy NOT_TRANSLATED -HP:0001533 Asthenic habitus NOT_TRANSLATED -HP:0001533 Thin body habitus NOT_TRANSLATED -HP:0001533 Thin build NOT_TRANSLATED -HP:0034303 Notched T-wave NOT_TRANSLATED -HP:0001537 Umbilical hernias NOT_TRANSLATED -HP:0034305 2:1 AV block NOT_TRANSLATED -HP:0001538 Abdominal protuberance NOT_TRANSLATED -HP:0001538 Belly sticks out NOT_TRANSLATED -HP:0001538 Extended belly NOT_TRANSLATED -HP:0001539 Exomphalos NOT_TRANSLATED -HP:0001539 Omphalocoele NOT_TRANSLATED -HP:0001540 Gap between large left and right abdominal muscles NOT_TRANSLATED -HP:0001541 Accumulation of fluid in the abdomen NOT_TRANSLATED -HP:0034309 Multi-tailed spermatozoa NOT_TRANSLATED -HP:0034310 Postvaccination yellow fever NOT_TRANSLATED -HP:0034311 Optic chiasm hypoplasia NOT_TRANSLATED -HP:0001544 Prominent belly button NOT_TRANSLATED -HP:0001544 Prominent navel NOT_TRANSLATED -HP:0034312 Sleep hypoxemia NOT_TRANSLATED -HP:0034312 Sleep-related hypoxemia NOT_TRANSLATED -HP:0001545 Anteriorly displaced anus NOT_TRANSLATED -HP:0001545 Anus anteposition NOT_TRANSLATED -HP:0001547 Abnormality of the rib cage NOT_TRANSLATED -HP:0001548 General overgrowth NOT_TRANSLATED -HP:0001548 Generalised overgrowth NOT_TRANSLATED -HP:0001548 Generalized overgrowth NOT_TRANSLATED -HP:0001549 Abnormality of the ileum NOT_TRANSLATED -HP:0001551 Abnormal belly button NOT_TRANSLATED -HP:0001551 Abnormal navel NOT_TRANSLATED -HP:0001551 Abnormal umbilicus NOT_TRANSLATED -HP:0001552 Barrel chest NOT_TRANSLATED -HP:0034320 Intracytoplasmic myofiber reducing inclusion bodies NOT_TRANSLATED -HP:0001555 Asymmetric chest NOT_TRANSLATED -HP:0034324 Dilatated brachiocephalic artery NOT_TRANSLATED -HP:0034324 Innominate artery aneurysm NOT_TRANSLATED -HP:0001557 Abnormal intrauterine movements NOT_TRANSLATED -HP:0001558 Decreased fetal activity NOT_TRANSLATED -HP:0001558 Decreased fetal movements NOT_TRANSLATED -HP:0001558 Decreased foetal activity NOT_TRANSLATED -HP:0001558 Decreased foetal movement NOT_TRANSLATED -HP:0001558 Decreased foetal movements NOT_TRANSLATED -HP:0001558 Decreased movement in utero NOT_TRANSLATED -HP:0001558 Dminished fetal movement NOT_TRANSLATED -HP:0001558 Fetal hypokinesia NOT_TRANSLATED -HP:0001558 Foetal hypokinesia NOT_TRANSLATED -HP:0001558 Less than 10 fetal movements in 12 hours NOT_TRANSLATED -HP:0001558 Less than 10 foetal movements in 12 hours NOT_TRANSLATED -HP:0001558 Reduced fetal movement NOT_TRANSLATED -HP:0001558 Reduced fetal movements NOT_TRANSLATED -HP:0001558 Reduced foetal movement NOT_TRANSLATED -HP:0001558 Reduced foetal movements NOT_TRANSLATED -HP:0034327 Punctiform multicolored opacities in the posterior corneal stroma NOT_TRANSLATED -HP:0001560 Abnormal amniotic fluid NOT_TRANSLATED -HP:0034328 Fibro-obliterative bile-duct scarring NOT_TRANSLATED -HP:0034328 Fibro-obliterative loss of bile ducts NOT_TRANSLATED -HP:0001561 High levels of amniotic fluid NOT_TRANSLATED -HP:0001561 Hydramnios NOT_TRANSLATED -HP:0001561 Increased amniotic fluid index NOT_TRANSLATED -HP:0034329 Bilateral hemimegalencephaly NOT_TRANSLATED -HP:0001562 Decreased amniotic fluid index NOT_TRANSLATED -HP:0001562 Low levels of amniotic fluid NOT_TRANSLATED -HP:0001562 Maternal oligohydramnios NOT_TRANSLATED -HP:0001563 Foetal polyuria NOT_TRANSLATED -HP:0034333 Hypoxanthine high in blood NOT_TRANSLATED -HP:0001566 Central incisor gap NOT_TRANSLATED -HP:0001566 Diastasis of the central incisors NOT_TRANSLATED -HP:0001566 Diastema between maxillary central incisors NOT_TRANSLATED -HP:0001566 Diastema between upper front teeth NOT_TRANSLATED -HP:0001566 Diastema between upper incisors NOT_TRANSLATED -HP:0001566 Gap between upper front teeth NOT_TRANSLATED -HP:0001566 Separated superior central incisors NOT_TRANSLATED -HP:0001566 Wide gap between upper central incisors NOT_TRANSLATED -HP:0001566 Wide upper central incisors NOT_TRANSLATED -HP:0001566 Widely spaced upper incisors NOT_TRANSLATED -HP:0034336 Spleen infarct NOT_TRANSLATED -HP:0034336 Spleen infarction NOT_TRANSLATED -HP:0034336 Splenic infarct NOT_TRANSLATED -HP:0001571 Impacted teeth NOT_TRANSLATED -HP:0001571 Multiple buried teeth NOT_TRANSLATED -HP:0001571 Multiple retained teeth NOT_TRANSLATED -HP:0034339 Pseudoautosomal region inheritance NOT_TRANSLATED -HP:0001572 Hyperplasia of tooth NOT_TRANSLATED -HP:0001572 Hypertrophy of tooth NOT_TRANSLATED -HP:0001572 Increased size of tooth NOT_TRANSLATED -HP:0001572 Increased width of tooth NOT_TRANSLATED -HP:0001572 Large tooth NOT_TRANSLATED -HP:0001572 Megalodontia NOT_TRANSLATED -HP:0001572 Tooth mass excess NOT_TRANSLATED -HP:0034340 monoallelic_PAR NOT_TRANSLATED -HP:0034341 biallelic_PAR NOT_TRANSLATED -HP:0001579 ACTH-independent hypercortisolemia NOT_TRANSLATED -HP:0034347 Palpable great auricular nerve NOT_TRANSLATED -HP:0034348 Infundibular pulmonary stenosis NOT_TRANSLATED -HP:0034348 Infundibular pulmonic stenosis NOT_TRANSLATED -HP:0034348 Subvalvar pulmonary stenosis NOT_TRANSLATED -HP:0034348 Subvalvar pulmonic stenosis NOT_TRANSLATED -HP:0034348 Subvalvular pulmonary stenosis NOT_TRANSLATED -HP:0034348 Subvalvular pulmonic stenosis NOT_TRANSLATED -HP:0001581 Cutaneous infections NOT_TRANSLATED -HP:0001581 Skin infections, recurrent NOT_TRANSLATED -HP:0034349 Supravalvar pulmonnic stenosis NOT_TRANSLATED -HP:0034349 Supravalvular pulmonary stenosis NOT_TRANSLATED -HP:0034349 Supravalvular pulmonic stenosis NOT_TRANSLATED -HP:0001582 Loose redundant skin NOT_TRANSLATED -HP:0001582 Redundant skin folds NOT_TRANSLATED -HP:0001582 Sagging, redundant skin NOT_TRANSLATED -HP:0001583 Rotatory Nystagmus NOT_TRANSLATED -HP:0034351 Peripheral nerve hyperexcitability NOT_TRANSLATED -HP:0034356 Increased low molecular weight protein excretion NOT_TRANSLATED -HP:0001591 Bell-shaped chest NOT_TRANSLATED -HP:0001591 Constricted, bell-shaped thorax NOT_TRANSLATED -HP:0001591 Narrow, bell-shaped thorax NOT_TRANSLATED -HP:0001592 Absence of a tooth NOT_TRANSLATED -HP:0001592 Agenesis of a tooth NOT_TRANSLATED -HP:0001592 Failure of development of a tooth NOT_TRANSLATED -HP:0001592 Missing a tooth NOT_TRANSLATED -HP:0001593 Decreased size of maxillary lateral incisor NOT_TRANSLATED -HP:0001593 Decreased size of upper lateral incisor NOT_TRANSLATED -HP:0001593 Decreased width of upper lateral incisor NOT_TRANSLATED -HP:0001593 Hypotrophic maxillary lateral incisor NOT_TRANSLATED -HP:0001593 Hypotrophic upper lateral incisor NOT_TRANSLATED -HP:0001593 Small maxillary lateral incisor NOT_TRANSLATED -HP:0001593 Small upper lateral incisor NOT_TRANSLATED -HP:0034362 Decreased foveal light reflex NOT_TRANSLATED -HP:0034362 Muted foveal light reflex NOT_TRANSLATED -HP:0034362 Poor foveal light reflex NOT_TRANSLATED -HP:0001595 Abnormality of the hair NOT_TRANSLATED -HP:0001595 Abnormality of the hair shaft NOT_TRANSLATED -HP:0001595 Hair abnormality NOT_TRANSLATED -HP:0034363 Surfer's eye NOT_TRANSLATED -HP:0034363 Wing-shaped conjunctiva NOT_TRANSLATED -HP:0001596 Hair loss NOT_TRANSLATED -HP:0001597 Nail disease NOT_TRANSLATED -HP:0034365 Elevated circulating piperideine-6-carboxylic acid concentration NOT_TRANSLATED -HP:0001598 Koilonychia NOT_TRANSLATED -HP:0001598 Spoon-shaped nails NOT_TRANSLATED -HP:0001600 Laryngeal abnormalities NOT_TRANSLATED -HP:0001600 Laryngeal anomalies NOT_TRANSLATED -HP:0001601 Softening of voice box tissue NOT_TRANSLATED -HP:0001604 Hoarse voice due to vocal cord paresis NOT_TRANSLATED -HP:0001604 Vocal cord paresis in severe cases NOT_TRANSLATED -HP:0001604 Weakness of the vocal cords NOT_TRANSLATED -HP:0034372 Internal tibial rotation NOT_TRANSLATED -HP:0001605 Inability to move vocal cords NOT_TRANSLATED -HP:0001605 Laryngeal paralysis NOT_TRANSLATED -HP:0034373 External tibial rotation NOT_TRANSLATED -HP:0034374 Trident acetabula NOT_TRANSLATED -HP:0001608 Voice abnormality NOT_TRANSLATED -HP:0001609 Hoarseness NOT_TRANSLATED -HP:0001609 Husky voice NOT_TRANSLATED -HP:0001611 Hypernasal speech NOT_TRANSLATED -HP:0001611 Hypernasal voice NOT_TRANSLATED -HP:0001611 Nasal voice NOT_TRANSLATED -HP:0034381 CNS axonal spheroid NOT_TRANSLATED -HP:0001618 Inability to produce voice sounds NOT_TRANSLATED -HP:0001618 Voice change NOT_TRANSLATED -HP:0001620 High-pitched voice NOT_TRANSLATED -HP:0034388 Hilar lymphadenopathy NOT_TRANSLATED -HP:0001621 Hypophonia NOT_TRANSLATED -HP:0001621 Quiet voice NOT_TRANSLATED -HP:0001621 Soft voice NOT_TRANSLATED -HP:0034389 Pulmonary vein dilatation NOT_TRANSLATED -HP:0001622 Premature delivery NOT_TRANSLATED -HP:0001622 Premature delivery of affected infants NOT_TRANSLATED -HP:0001622 Preterm birth NOT_TRANSLATED -HP:0001622 Preterm delivery NOT_TRANSLATED -HP:0001622 Shortened gestation time NOT_TRANSLATED -HP:0034390 Glycine low in CSF NOT_TRANSLATED -HP:0001623 Breech presentation at birth NOT_TRANSLATED -HP:0001623 Feet or buttocks of fetus positioned near opening of uterus NOT_TRANSLATED -HP:0001623 Feet or buttocks of foetus positioned near opening of uterus NOT_TRANSLATED -HP:0034392 Contracture NOT_TRANSLATED -HP:0001626 Cardiovascular abnormality NOT_TRANSLATED -HP:0001626 Cardiovascular disease NOT_TRANSLATED -HP:0034394 Supination contracture of the forearm NOT_TRANSLATED -HP:0001627 Abnormality of cardiac morphology NOT_TRANSLATED -HP:0001627 Abnormality of the heart NOT_TRANSLATED -HP:0001627 Abnormally shaped heart NOT_TRANSLATED -HP:0001627 Cardiac abnormality NOT_TRANSLATED -HP:0001627 Cardiac anomalies NOT_TRANSLATED -HP:0001627 Cardiac anomaly NOT_TRANSLATED -HP:0001627 Congenital heart defect NOT_TRANSLATED -HP:0001627 Congenital heart defects NOT_TRANSLATED -HP:0001627 Heart defect NOT_TRANSLATED -HP:0034395 Pronation contracture of the forearm NOT_TRANSLATED -HP:0001629 Hole in heart wall separating two lower heart chambers NOT_TRANSLATED -HP:0001629 Ventricular septal defects NOT_TRANSLATED -HP:0001629 Ventriculoseptal defect NOT_TRANSLATED -HP:0001629 VSD NOT_TRANSLATED -HP:0001631 An opening in the wall separating the top two chambers of the heart NOT_TRANSLATED -HP:0001631 ASD NOT_TRANSLATED -HP:0001631 Atria septal defect NOT_TRANSLATED -HP:0001631 Atrial septum defect NOT_TRANSLATED -HP:0001631 Atrioseptal defect NOT_TRANSLATED -HP:0001631 Defect in the atrial septum NOT_TRANSLATED -HP:0001631 Hole in heart wall separating two upper heart chambers NOT_TRANSLATED -HP:0001633 Abnormality of the mitral valve NOT_TRANSLATED -HP:0001635 Cardiac failure NOT_TRANSLATED -HP:0001635 Cardiac failures NOT_TRANSLATED -HP:0001635 Cardiac insufficiency NOT_TRANSLATED -HP:0001635 CHF NOT_TRANSLATED -HP:0001635 Chronic heart failure NOT_TRANSLATED -HP:0001635 Heart failure NOT_TRANSLATED -HP:0001636 Tetrology of fallot NOT_TRANSLATED -HP:0001637 Abnormality of the myocardium NOT_TRANSLATED -HP:0034405 Thick tectum NOT_TRANSLATED -HP:0001638 Disease of the heart muscle NOT_TRANSLATED -HP:0034406 Angiotensin-converting enzyme (ACE) high in CSF NOT_TRANSLATED -HP:0001639 Cardiomyopathy, hypertrophic NOT_TRANSLATED -HP:0001639 Enlarged and thickened heart muscle NOT_TRANSLATED -HP:0001639 HCM NOT_TRANSLATED -HP:0034407 3-ketoacyl-CoA thiolase (THIO) deficiency NOT_TRANSLATED -HP:0001640 Enlarged heart NOT_TRANSLATED -HP:0001640 Increased heart size NOT_TRANSLATED -HP:0001641 Abnormality of the pulmonary valve NOT_TRANSLATED -HP:0001641 Anomaly of the pulmonary valve NOT_TRANSLATED -HP:0001642 Narrowing of pulmonic valve NOT_TRANSLATED -HP:0001642 Pulmonary stenosis NOT_TRANSLATED -HP:0001642 Pulmonary valve stenosis NOT_TRANSLATED -HP:0001642 Pulmonic valve stenosis NOT_TRANSLATED -HP:0001643 Ductus arteriosus NOT_TRANSLATED -HP:0001643 Patent ductus Botalli NOT_TRANSLATED -HP:0001643 PDA NOT_TRANSLATED -HP:0001643 Persistent arterial duct NOT_TRANSLATED -HP:0001643 Persistent ductus arteriosus NOT_TRANSLATED -HP:0001644 Cardiomyopathy, dilated NOT_TRANSLATED -HP:0001644 Congestive cardiomyopathy NOT_TRANSLATED -HP:0001644 DCM NOT_TRANSLATED -HP:0001644 Stretched and thinned heart muscle NOT_TRANSLATED -HP:0001645 Premature sudden cardiac death NOT_TRANSLATED -HP:0001646 Abnormality of the aortic valve NOT_TRANSLATED -HP:0034414 oral frenulum, thick NOT_TRANSLATED -HP:0001647 Aortic valve has two leaflets rather than three NOT_TRANSLATED -HP:0034415 Avulsed tooth NOT_TRANSLATED -HP:0034415 Teeth: avulsion NOT_TRANSLATED -HP:0034416 Laceration of oral frenulum NOT_TRANSLATED -HP:0034416 Oral frenulum, torn NOT_TRANSLATED -HP:0001649 Elevated heart rate NOT_TRANSLATED -HP:0001649 Fast heart rate NOT_TRANSLATED -HP:0001649 Heart racing NOT_TRANSLATED -HP:0001649 Increased heart rate NOT_TRANSLATED -HP:0001649 Racing heart NOT_TRANSLATED -HP:0001649 Rapid heart beat NOT_TRANSLATED -HP:0034417 Intraoral lacerations NOT_TRANSLATED -HP:0001650 Aortic stenosis NOT_TRANSLATED -HP:0001650 Narrowing of aortic valve NOT_TRANSLATED -HP:0001650 Valvular aortic stenosis NOT_TRANSLATED -HP:0034418 Oral mucosa erythema NOT_TRANSLATED -HP:0001651 Heart tip and four chambers point towards right side of body NOT_TRANSLATED -HP:0001651 Thoracic situs inversus NOT_TRANSLATED -HP:0001653 Mitral incompetence NOT_TRANSLATED -HP:0001653 Mitral insufficiency NOT_TRANSLATED -HP:0001653 Mitral regurgitation, mild NOT_TRANSLATED -HP:0001653 Mitral valve insufficiency NOT_TRANSLATED -HP:0001653 Mitral valve regurgitation NOT_TRANSLATED -HP:0034421 Cardiac click sound on auscultation NOT_TRANSLATED -HP:0001654 Abnormality of the heart valves NOT_TRANSLATED -HP:0001654 Valvular abnormality NOT_TRANSLATED -HP:0001654 Valvular heart disease NOT_TRANSLATED -HP:0001655 Persistent foramen ovale NOT_TRANSLATED -HP:0001657 Long Q-T syndrome NOT_TRANSLATED -HP:0001657 Long QT syndrome NOT_TRANSLATED -HP:0001657 Prolong qt interval on ekg NOT_TRANSLATED -HP:0034425 Hair sulfur content reduced NOT_TRANSLATED -HP:0001658 Heart attack NOT_TRANSLATED -HP:0001658 MI NOT_TRANSLATED -HP:0001659 Aortic insufficiency NOT_TRANSLATED -HP:0001659 Aortic valve regurgitation NOT_TRANSLATED -HP:0034427 Mucopurulent discharge from the eye NOT_TRANSLATED -HP:0001660 Common arterial trunk NOT_TRANSLATED -HP:0001660 Persistant truncus arteriosus NOT_TRANSLATED -HP:0034429 Bacteria in CSF NOT_TRANSLATED -HP:0001662 Brachycardia NOT_TRANSLATED -HP:0001662 Slow heartbeats NOT_TRANSLATED -HP:0001664 Torsades de pointes NOT_TRANSLATED -HP:0034432 Intertriginous distribution of skin lesions NOT_TRANSLATED -HP:0034433 Distributed along Langer's lines NOT_TRANSLATED -HP:0034433 Lesions follow lines of cleavage NOT_TRANSLATED -HP:0001667 Heart right ventricle hypertrophy NOT_TRANSLATED -HP:0034436 Gaze aversion NOT_TRANSLATED -HP:0001669 Transposition of great vessels NOT_TRANSLATED -HP:0001671 Abnormality of the cardiac septa NOT_TRANSLATED -HP:0001671 Heart septal defect NOT_TRANSLATED -HP:0001671 Septal defects NOT_TRANSLATED -HP:0034439 Instep localization to skin abnormality NOT_TRANSLATED -HP:0034440 Ultraviolet exposure improves condition NOT_TRANSLATED -HP:0034441 Aspartic acid low in blood NOT_TRANSLATED -HP:0001674 Atrioventricular canal NOT_TRANSLATED -HP:0001674 Common atrioventricular canal NOT_TRANSLATED -HP:0001674 Complete atrioventricular septal defect NOT_TRANSLATED -HP:0001674 Complete common AV canal NOT_TRANSLATED -HP:0034443 Erythropoietin low in blood NOT_TRANSLATED -HP:0001677 Coronary atherosclerosis NOT_TRANSLATED -HP:0001677 Coronary disease NOT_TRANSLATED -HP:0001677 Plaque build-up in arteries supplying blood to heart NOT_TRANSLATED -HP:0034445 Gamma-glutamyl transferase low in blood NOT_TRANSLATED -HP:0001678 Atrioventricular nodal disease NOT_TRANSLATED -HP:0001678 Interruption of electrical communication between upper and lower chambers of heart NOT_TRANSLATED -HP:0034446 Histamine high in blood NOT_TRANSLATED -HP:0001679 Abnormal aorta morphology NOT_TRANSLATED -HP:0001679 Abnormality of the aorta NOT_TRANSLATED -HP:0034447 IL-18 high in blood NOT_TRANSLATED -HP:0001680 Aortic coarctation NOT_TRANSLATED -HP:0001680 Coarctation of the aorta NOT_TRANSLATED -HP:0001680 Narrowing of aorta NOT_TRANSLATED -HP:0001680 Narrowing of the aorta NOT_TRANSLATED -HP:0034448 Abnormal phytanic acid to pristanic acid ratio NOT_TRANSLATED -HP:0034448 Abnormal phytanic acid/pristanic acid ratio NOT_TRANSLATED -HP:0034449 Phytanic acid to pristanic acid ratio high NOT_TRANSLATED -HP:0001682 Narrowing of blood vessel below aortic heart valve NOT_TRANSLATED -HP:0001682 Subaortic stenosis NOT_TRANSLATED -HP:0034450 Phytanic acid to pristanic acid ratio low NOT_TRANSLATED -HP:0034451 Vesicorectal fistula NOT_TRANSLATED -HP:0001684 Atrial septal defect, ostium secundum type NOT_TRANSLATED -HP:0001684 Ostium secundum atrial septal defect NOT_TRANSLATED -HP:0001684 Patent ostium secundum NOT_TRANSLATED -HP:0034453 Umbilicus hypoplastic NOT_TRANSLATED -HP:0001686 Aphonia NOT_TRANSLATED -HP:0034455 Taurine high in CSF NOT_TRANSLATED -HP:0034456 Glutathione high in blood NOT_TRANSLATED -HP:0034457 Hawkinsin high in urine NOT_TRANSLATED -HP:0034458 Phenylpyruvic acid high in urine NOT_TRANSLATED -HP:0001691 Muscular subaortic stenosis NOT_TRANSLATED -HP:0034459 Lumbar puncture relieves symptoms NOT_TRANSLATED -HP:0001692 Primary atrial arrhythmia NOT_TRANSLATED -HP:0034461 Kynurenine high in urine NOT_TRANSLATED -HP:0034462 L-alloisoleucine high in CSF NOT_TRANSLATED -HP:0001695 Heart stops beating NOT_TRANSLATED -HP:0034463 Hydroxylysine present in blood NOT_TRANSLATED -HP:0001696 All organs on wrong side of body NOT_TRANSLATED -HP:0001696 Situs inversus NOT_TRANSLATED -HP:0001696 situs oppositus NOT_TRANSLATED -HP:0001696 situs transversus NOT_TRANSLATED -HP:0034464 Homocitrulline present in urine NOT_TRANSLATED -HP:0001697 Abnormality of the pericardium NOT_TRANSLATED -HP:0034465 2-hydroxyadipic acid high in urine NOT_TRANSLATED -HP:0001698 Fluid around heart NOT_TRANSLATED -HP:0001698 Pericardial effusions NOT_TRANSLATED -HP:0034466 Homoarginine high in urine NOT_TRANSLATED -HP:0034468 Gastric xanthomas NOT_TRANSLATED -HP:0034468 Gastric xanthomata NOT_TRANSLATED -HP:0001701 Swelling or irritation of membrane around heart NOT_TRANSLATED -HP:0034469 Elastase low in stool NOT_TRANSLATED -HP:0001702 Abnormality of the tricuspid valve NOT_TRANSLATED -HP:0034470 Chloride high in stool NOT_TRANSLATED -HP:0034470 Elevations in fecal chloride concentration NOT_TRANSLATED -HP:0100007 Tumor of the peripheral nervous system NOT_TRANSLATED -HP:0100007 Tumour of the peripheral nervous system NOT_TRANSLATED -HP:0034471 Coproporphyrin isomer III/I ratio high in stool NOT_TRANSLATED -HP:0034471 Increased fecal CIII:CI ratio NOT_TRANSLATED -HP:0100006 Neoplasia of the central nervous system NOT_TRANSLATED -HP:0100006 Neoplasm of the CNS NOT_TRANSLATED -HP:0100006 Tumors of the central nervous system NOT_TRANSLATED -HP:0100006 Tumours of the central nervous system NOT_TRANSLATED -HP:0034472 Harderoporphyrin high in stool NOT_TRANSLATED -HP:0001705 Right ventricular outlet obstruction NOT_TRANSLATED -HP:0034473 Heptacarboxylporphyrin high in stool NOT_TRANSLATED -HP:0100008 Neurilemmoma NOT_TRANSLATED -HP:0100008 Neurinoma NOT_TRANSLATED -HP:0100008 Neurolemmoma NOT_TRANSLATED -HP:0100008 Schwann cell tumor NOT_TRANSLATED -HP:0100008 Schwann cell tumour NOT_TRANSLATED -HP:0100008 Schwannomas NOT_TRANSLATED -HP:0034474 Pentacarboxylporphyrin high in stool NOT_TRANSLATED -HP:0001707 Abnormality of the right ventricle NOT_TRANSLATED -HP:0001707 Right ventricular abnormality NOT_TRANSLATED -HP:0034475 Isocoproporphyrin high in stool NOT_TRANSLATED -HP:0001708 Impaired right ventricular function NOT_TRANSLATED -HP:0001708 Right ventricular impairment NOT_TRANSLATED -HP:0001708 Right-sided heart failure NOT_TRANSLATED -HP:0034476 Clostridium botulinum toxin in stool NOT_TRANSLATED -HP:0100013 Breast tumor NOT_TRANSLATED -HP:0100013 Breast tumour NOT_TRANSLATED -HP:0100013 Neoplasia of the breast NOT_TRANSLATED -HP:0100013 Tumours of the breast NOT_TRANSLATED -HP:0001709 Complete heart block NOT_TRANSLATED -HP:0001709 Third-degree heart block NOT_TRANSLATED -HP:0034477 Peri-hepatic adhesions NOT_TRANSLATED -HP:0100012 Eye tumor NOT_TRANSLATED -HP:0100012 Eye tumour NOT_TRANSLATED -HP:0100012 Neoplasia of the eye NOT_TRANSLATED -HP:0001710 Conotruncal heart defects NOT_TRANSLATED -HP:0034478 Vas deferens dilated NOT_TRANSLATED -HP:0100015 Additional crus NOT_TRANSLATED -HP:0100015 Third crus NOT_TRANSLATED -HP:0001711 Abnormal heart left ventricle morphology NOT_TRANSLATED -HP:0001711 Abnormality of the left ventricle NOT_TRANSLATED -HP:0001711 Left ventricular abnormality NOT_TRANSLATED -HP:0034479 Epididymis enlarged NOT_TRANSLATED -HP:0100014 Epiretinal membranes NOT_TRANSLATED -HP:0100014 Macular pucker NOT_TRANSLATED -HP:0100014 Premacular fibrosis NOT_TRANSLATED -HP:0001712 Heart left ventricle hypertrophy NOT_TRANSLATED -HP:0001712 Left ventricular wall hypertrophy NOT_TRANSLATED -HP:0034480 Absent epididymides NOT_TRANSLATED -HP:0034480 Epididymides absent NOT_TRANSLATED -HP:0001713 Abnormality of cardiac ventricle NOT_TRANSLATED -HP:0100016 Abnormality of the mesentery NOT_TRANSLATED -HP:0034483 Bone marrow: vacuolated lymphocytes NOT_TRANSLATED -HP:0100018 Yellowish cloudy center of lens NOT_TRANSLATED -HP:0100018 Yellowish cloudy centre of lens NOT_TRANSLATED -HP:0100021 Cerebral paralysis NOT_TRANSLATED -HP:0100021 CP NOT_TRANSLATED -HP:0034485 Glioependymal cyst NOT_TRANSLATED -HP:0034485 Neuroglial cyst NOT_TRANSLATED -HP:0001718 Mitral valve stenosis NOT_TRANSLATED -HP:0034486 IL-7 low in blood NOT_TRANSLATED -HP:0001719 DORV NOT_TRANSLATED -HP:0001719 Double-outlet right ventricle NOT_TRANSLATED -HP:0034487 IL-12 high in blood NOT_TRANSLATED -HP:0100022 Movement disorder NOT_TRANSLATED -HP:0100022 Unusual movement NOT_TRANSLATED -HP:0034488 IL-13 high in blood NOT_TRANSLATED -HP:0034489 IL-2 high in blood NOT_TRANSLATED -HP:0100024 Conspicious happy aspect NOT_TRANSLATED -HP:0100024 Happy aspect NOT_TRANSLATED -HP:0034490 IL-4 high in blood NOT_TRANSLATED -HP:0100027 Recurring pancreas inflammation NOT_TRANSLATED -HP:0100027 Recurring pancreatitis NOT_TRANSLATED -HP:0034491 IL-5 high in blood NOT_TRANSLATED -HP:0100028 Aberrant thyroid NOT_TRANSLATED -HP:0100028 Aberrant thyroid gland NOT_TRANSLATED -HP:0100028 Abnormal thryoid location NOT_TRANSLATED -HP:0100028 Ectopic thyroid gland NOT_TRANSLATED -HP:0100028 Heteropic thyroid gland NOT_TRANSLATED -HP:0034494 Paranasal sinuses opacification NOT_TRANSLATED -HP:0034494 Paranasal sinuses opacified NOT_TRANSLATED -HP:0100031 Neoplasia of the thyroid gland NOT_TRANSLATED -HP:0100033 Tic disorder NOT_TRANSLATED -HP:0001730 Progressive hearing loss NOT_TRANSLATED -HP:0034498 Focal nodular hyperplasia NOT_TRANSLATED -HP:0100035 Verbal tics NOT_TRANSLATED -HP:0100035 Vocal tics NOT_TRANSLATED -HP:0034499 Bone marrow: iron stores increased NOT_TRANSLATED -HP:0001732 Pancreatic disease NOT_TRANSLATED -HP:0001733 Pancreatic inflammation NOT_TRANSLATED -HP:0034501 Mediastinal widening NOT_TRANSLATED -HP:0100036 Looser zones NOT_TRANSLATED -HP:0001735 Acute pancreatic inflammation NOT_TRANSLATED -HP:0001735 Pancreatitis, acute NOT_TRANSLATED -HP:0100041 Wide 3rd toe NOT_TRANSLATED -HP:0001737 Multiple pancreatic cysts NOT_TRANSLATED -HP:0001737 Pancreatic cyst NOT_TRANSLATED -HP:0100040 Wide 2nd toe NOT_TRANSLATED -HP:0001738 Inability to properly digest food due to lack of pancreatic digestive enzymes NOT_TRANSLATED -HP:0001738 Pancreatic insufficiency NOT_TRANSLATED -HP:0034506 Gallbladder enlarged NOT_TRANSLATED -HP:0100043 Broad little toe NOT_TRANSLATED -HP:0100043 Broad pinkie toe NOT_TRANSLATED -HP:0100043 Broad pinky toe NOT_TRANSLATED -HP:0001739 Abnormality of the nasopharynx NOT_TRANSLATED -HP:0100042 Wide 4th toe NOT_TRANSLATED -HP:0034508 Muscle biopsy: fingerprint bodies at periphery of muscle fibers NOT_TRANSLATED -HP:0100045 Bracket shaped end part of 2nd toe bone NOT_TRANSLATED -HP:0100044 Absent end part of the 2nd toe bone NOT_TRANSLATED -HP:0001742 Blockage of nose NOT_TRANSLATED -HP:0001742 Congestion of nose NOT_TRANSLATED -HP:0001742 Nasal blockage NOT_TRANSLATED -HP:0001742 Nasal obstruction NOT_TRANSLATED -HP:0001742 Obstruction of nose NOT_TRANSLATED -HP:0001742 Stuffy nose NOT_TRANSLATED -HP:0100047 Enlarged end part of the 2nd toe bone NOT_TRANSLATED -HP:0034511 Muscle biopsy: aconitase deficiency NOT_TRANSLATED -HP:0100046 Cone-shaped end part of the 2nd toe bone NOT_TRANSLATED -HP:0001744 Increased spleen size NOT_TRANSLATED -HP:0100049 Irregular end part of the 2nd toe bone NOT_TRANSLATED -HP:0034513 Interferon-alpha high in blood NOT_TRANSLATED -HP:0100048 Fragmentation of the end part of the 2nd toe bone NOT_TRANSLATED -HP:0001746 Absent spleen NOT_TRANSLATED -HP:0100050 Increased bone density of end part of the 2nd toe NOT_TRANSLATED -HP:0001748 Accessory spleens NOT_TRANSLATED -HP:0001748 Multiple accessory spleens NOT_TRANSLATED -HP:0001748 Multiple small spleens NOT_TRANSLATED -HP:0034516 Ketogenic diet improves symptoms NOT_TRANSLATED -HP:0100053 Speckled calcifications in the end part of the 2nd toe bone NOT_TRANSLATED -HP:0100052 Small end part of the 2nd toe bone NOT_TRANSLATED -HP:0001750 Common ventricle NOT_TRANSLATED -HP:0034518 Gum fragility NOT_TRANSLATED -HP:0100055 Absent end part of the 3rd toe NOT_TRANSLATED -HP:0001751 Impaired vestibular function NOT_TRANSLATED -HP:0001751 Interictal vestibular dysfunction NOT_TRANSLATED -HP:0001751 Vestibular function defect NOT_TRANSLATED -HP:0100054 Triangular end part of the 2nd toe bone NOT_TRANSLATED -HP:0100057 Cone-shaped end part of the 3rd toe bone NOT_TRANSLATED -HP:0100056 Bracket shaped end part of 3rd toe bone NOT_TRANSLATED -HP:0100059 Fragmentation of the end part of the 3rd toe bone NOT_TRANSLATED -HP:0100058 Enlarged end part of the 3rd toe bone NOT_TRANSLATED -HP:0100061 Increased bone density of end part of the 3rd toe bone NOT_TRANSLATED -HP:0001757 High frequency sensorineural hearing impairment NOT_TRANSLATED -HP:0001757 High-tone sensorineural deafness NOT_TRANSLATED -HP:0001757 High-tone sensorineural hearing impairment NOT_TRANSLATED -HP:0100060 Irregular end part of the 3rd toe bone NOT_TRANSLATED -HP:0100063 Small end part of the 3rd toe bone NOT_TRANSLATED -HP:0001760 Abnormal feet structure NOT_TRANSLATED -HP:0001760 Abnormality of the feet NOT_TRANSLATED -HP:0001760 Abnormality of the foot NOT_TRANSLATED -HP:0001760 Foot deformities NOT_TRANSLATED -HP:0001760 Foot deformity NOT_TRANSLATED -HP:0100065 Triangular end part of the 3rd toe bone NOT_TRANSLATED -HP:0001761 High-arched foot NOT_TRANSLATED -HP:0100064 Speckled calcifications in the end part of the 3rd toe bone NOT_TRANSLATED -HP:0001762 Club feet NOT_TRANSLATED -HP:0001762 Club foot NOT_TRANSLATED -HP:0001762 Clubbing of feet NOT_TRANSLATED -HP:0001762 Clubfeet NOT_TRANSLATED -HP:0001762 Clubfoot NOT_TRANSLATED -HP:0001762 Equinovarus NOT_TRANSLATED -HP:0001762 Foot, talipes equinovarus NOT_TRANSLATED -HP:0001762 Pes equinovarus NOT_TRANSLATED -HP:0001762 Pes equinus NOT_TRANSLATED -HP:0001762 Talipes varus NOT_TRANSLATED -HP:0100067 Bracket shaped end part of 4th toe bone NOT_TRANSLATED -HP:0001763 Dropped arches NOT_TRANSLATED -HP:0001763 Fallen arches NOT_TRANSLATED -HP:0001763 Flat feet NOT_TRANSLATED -HP:0001763 Flat foot NOT_TRANSLATED -HP:0100066 Absent end part of the 4th toe bone NOT_TRANSLATED -HP:0100069 Enlarged end part of the 4th toe bone NOT_TRANSLATED -HP:0001765 Hammer toe NOT_TRANSLATED -HP:0001765 Hammertoes NOT_TRANSLATED -HP:0100068 Cone-shaped end part of the 4th toe bone NOT_TRANSLATED -HP:0100071 Irregular end part of the 4th toe bone NOT_TRANSLATED -HP:0100070 Fragmentation of the end part of the 4th toe bone NOT_TRANSLATED -HP:0001769 Broad feet NOT_TRANSLATED -HP:0001769 Wide foot NOT_TRANSLATED -HP:0100072 Increased bone density of end part of the 4th toe bone NOT_TRANSLATED -HP:0001770 Foot syndactyly NOT_TRANSLATED -HP:0001770 Fused toes NOT_TRANSLATED -HP:0001770 Syndactyly of feet NOT_TRANSLATED -HP:0001770 Syndactyly of toes NOT_TRANSLATED -HP:0001770 Webbed toes NOT_TRANSLATED -HP:0100075 Speckled calcifications in the end part of the 4th toe bone NOT_TRANSLATED -HP:0001771 Achilles tendon contractures NOT_TRANSLATED -HP:0001771 Contractures of the Achilles tendon NOT_TRANSLATED -HP:0001771 Shortening of the achilles tendon NOT_TRANSLATED -HP:0001771 Tight achilles tendon NOT_TRANSLATED -HP:0100074 Small end part of the 4th toe bone NOT_TRANSLATED -HP:0001772 Equinovalgus deformity NOT_TRANSLATED -HP:0100077 Absent end part of the little toe bone NOT_TRANSLATED -HP:0100077 Absent end part of the pinkie toe bone NOT_TRANSLATED -HP:0100077 Absent end part of the pinky toe bone NOT_TRANSLATED -HP:0001773 Hypoplastic feet NOT_TRANSLATED -HP:0001773 Short feet NOT_TRANSLATED -HP:0001773 Small feet NOT_TRANSLATED -HP:0100076 Triangular end part of the 4th toe bone NOT_TRANSLATED -HP:0100079 Cone-shaped end part of the little toe bone NOT_TRANSLATED -HP:0100079 Cone-shaped end part of the pinkie toe bone NOT_TRANSLATED -HP:0100079 Cone-shaped end part of the pinky toe bone NOT_TRANSLATED -HP:0100078 Bracket shaped end part of little toe bone NOT_TRANSLATED -HP:0100078 Bracket shaped end part of pinkie toe bone NOT_TRANSLATED -HP:0100078 Bracket shaped end part of pinky toe bone NOT_TRANSLATED -HP:0001776 Bilateral clubfeet NOT_TRANSLATED -HP:0001776 Bilateral clubfoot NOT_TRANSLATED -HP:0001776 Club foot on both sides NOT_TRANSLATED -HP:0100081 Fragmentation of the end part of the little toe bone NOT_TRANSLATED -HP:0100081 Fragmentation of the end part of the pinkie toe bone NOT_TRANSLATED -HP:0100081 Fragmentation of the end part of the pinky toe bone NOT_TRANSLATED -HP:0100080 Enlarged end part of the little toe bone NOT_TRANSLATED -HP:0100080 Enlarged end part of the pinkie toe bone NOT_TRANSLATED -HP:0100080 Enlarged end part of the pinky toe bone NOT_TRANSLATED -HP:0100083 Increased bone density of end part of the little toe bone NOT_TRANSLATED -HP:0100083 Increased bone density of end part of the pinkie toe bone NOT_TRANSLATED -HP:0100083 Increased bone density of end part of the pinky toe bone NOT_TRANSLATED -HP:0100082 Irregular end part of the little toe bone NOT_TRANSLATED -HP:0100082 Irregular end part of the pinkie toe bone NOT_TRANSLATED -HP:0100082 Irregular end part of the pinky toe bone NOT_TRANSLATED -HP:0001780 Abnormalities of the toes NOT_TRANSLATED -HP:0100085 Small end part of the little toe bone NOT_TRANSLATED -HP:0100085 Small end part of the pinkie toe bone NOT_TRANSLATED -HP:0100085 Small end part of the pinky toe bone NOT_TRANSLATED -HP:0100087 Triangular end part of the little toe bone NOT_TRANSLATED -HP:0100087 Triangular end part of the pinkie toe bone NOT_TRANSLATED -HP:0100087 Triangular end part of the pinky toe bone NOT_TRANSLATED -HP:0001783 Broad metatarsals NOT_TRANSLATED -HP:0001783 Wide long bone of foot NOT_TRANSLATED -HP:0001783 Widened metatarsal shaft NOT_TRANSLATED -HP:0100086 Speckled calcifications in the end part of the little toe bone NOT_TRANSLATED -HP:0100086 Speckled calcifications in the end part of the pinkie toe bone NOT_TRANSLATED -HP:0100086 Speckled calcifications in the end part of the pinky toe bone NOT_TRANSLATED -HP:0100089 Abnormality of the end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0100088 Abnormality of the end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001786 Slender feet NOT_TRANSLATED -HP:0100091 Abnormality of the end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001787 Delivery complication NOT_TRANSLATED -HP:0100090 Abnormality of the end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0100093 Abnormality of the end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100092 Abnormality of the end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001790 Hydrops fetalis, non-immune NOT_TRANSLATED -HP:0001790 Hydrops fetalis, nonimmune NOT_TRANSLATED -HP:0001790 Non-immune fetal hydrops NOT_TRANSLATED -HP:0001790 Non-immune foetal hydrops NOT_TRANSLATED -HP:0001790 Nonimmune hydrops NOT_TRANSLATED -HP:0100095 Abnormality of the end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001791 Foetal ascites NOT_TRANSLATED -HP:0100094 Abnormality of the end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001792 Hypoplastic nail NOT_TRANSLATED -HP:0001792 Hypoplastic nails NOT_TRANSLATED -HP:0001792 Nail hypoplasia NOT_TRANSLATED -HP:0001792 Small nails NOT_TRANSLATED -HP:0100097 Abnormality of the end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100097 Abnormality of the end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100097 Abnormality of the end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0100096 Abnormality of the end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0100099 Abnormality of the end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100099 Abnormality of the end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100099 Abnormality of the end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001795 Increased nail curvature NOT_TRANSLATED -HP:0001795 Nail overcurvature NOT_TRANSLATED -HP:0100098 Abnormality of the end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100098 Abnormality of the end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100098 Abnormality of the end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100101 Bracket shaped end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0100100 Absent end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001798 Absent nails NOT_TRANSLATED -HP:0001798 Aplastic nails NOT_TRANSLATED -HP:0100103 Enlarged end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001799 Short nails NOT_TRANSLATED -HP:0100102 Cone-shaped end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001800 Underdeveloped toenails NOT_TRANSLATED -HP:0100105 Irregular end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0100104 Fragmentation of the end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001802 Absent toenails NOT_TRANSLATED -HP:0001802 Absent toenails (anonychia) NOT_TRANSLATED -HP:0001802 Anonychia of toenails NOT_TRANSLATED -HP:0001803 Nail pitting NOT_TRANSLATED -HP:0001803 Pitted nails NOT_TRANSLATED -HP:0100106 Increased bone density of end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001804 Small fingernail NOT_TRANSLATED -HP:0001804 Underdeveloped fingernail NOT_TRANSLATED -HP:0100109 Speckled calcifications in the end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001805 Dystrophic thickened nails NOT_TRANSLATED -HP:0001805 Thick nail NOT_TRANSLATED -HP:0001805 Thickened nails NOT_TRANSLATED -HP:0100108 Small end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001806 Detachment of nail NOT_TRANSLATED -HP:0001806 Oncholysis NOT_TRANSLATED -HP:0100111 Absent end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0001807 Grooved nails NOT_TRANSLATED -HP:0001807 Longitudinal ridging NOT_TRANSLATED -HP:0001807 Nail ridging NOT_TRANSLATED -HP:0001807 Ridged nails NOT_TRANSLATED -HP:0100110 Triangular end part of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0001808 Brittle nails NOT_TRANSLATED -HP:0100113 Cone-shaped end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0001809 Longitudinal splitting of nail NOT_TRANSLATED -HP:0100112 Bracket shaped end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0001810 Dystrophic toenail changes NOT_TRANSLATED -HP:0001810 Dystrophic toenails NOT_TRANSLATED -HP:0001810 Poor toenail formation NOT_TRANSLATED -HP:0100115 Fragmentation of the end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0100114 Enlarged end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0001812 Tubular fingernails NOT_TRANSLATED -HP:0100117 Increased bone density of end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0100116 Irregular end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0100119 Small end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0001816 Thin nails NOT_TRANSLATED -HP:0100121 Triangular end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0001817 Anonychia of fingernails NOT_TRANSLATED -HP:0001817 Aplasia of the fingernail NOT_TRANSLATED -HP:0100120 Speckled calcifications in of the end part of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0100123 Bracket shaped end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0100122 Absent end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0001820 White discoloration of nails NOT_TRANSLATED -HP:0100125 Enlarged end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0001821 Broad fingernails NOT_TRANSLATED -HP:0001821 Wide fingernails NOT_TRANSLATED -HP:0100124 Cone-shaped end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0001822 Bunion NOT_TRANSLATED -HP:0001822 Lateral deviation of great toe NOT_TRANSLATED -HP:0001822 Lateral deviation of halluces NOT_TRANSLATED -HP:0100127 Irregular end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0100126 Fragmentation of the end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0001824 Loss of weight NOT_TRANSLATED -HP:0100128 Increased bone density of end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0100131 Speckled calcifications in the end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0100130 Small end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0001829 Duplication of bones of the toes NOT_TRANSLATED -HP:0001829 Polydactyly of feet NOT_TRANSLATED -HP:0001829 Polydactyly of the foot NOT_TRANSLATED -HP:0100132 Triangular end part of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0001830 Extra toe attached near the little toe NOT_TRANSLATED -HP:0001830 Fibular polydactyly NOT_TRANSLATED -HP:0001830 Polydactyly affecting the 5th toe NOT_TRANSLATED -HP:0001830 Postaxial polydactyly of feet NOT_TRANSLATED -HP:0001830 Postaxial polydactyly of foot NOT_TRANSLATED -HP:0001830 Posterior polydactyly of foot NOT_TRANSLATED -HP:0100135 Absent end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001831 Brachydactyly of the foot NOT_TRANSLATED -HP:0001831 Hypoplasia of the toe NOT_TRANSLATED -HP:0001831 Hypoplastic toes NOT_TRANSLATED -HP:0001831 Short foot phalanges NOT_TRANSLATED -HP:0001831 Short toes NOT_TRANSLATED -HP:0001831 Stubby toes NOT_TRANSLATED -HP:0001832 Abnormality of the long bone of foot NOT_TRANSLATED -HP:0100137 Cone-shaped end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001833 Disproportionately large feet NOT_TRANSLATED -HP:0001833 large feet NOT_TRANSLATED -HP:0001833 long feet NOT_TRANSLATED -HP:0100136 Bracket shaped end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100139 Fragmentation of the end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100138 Enlarged end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001836 Camptodactyly of feet NOT_TRANSLATED -HP:0100141 Increased bone density of end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001837 Wide toe NOT_TRANSLATED -HP:0100140 Irregular end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001838 Congenital vertical talus NOT_TRANSLATED -HP:0001838 Rocker bottom feet NOT_TRANSLATED -HP:0001838 Rocker-bottom feet NOT_TRANSLATED -HP:0001838 Rockerbottom feet NOT_TRANSLATED -HP:0100143 Small end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001839 Foot ectrodactyly NOT_TRANSLATED -HP:0001839 Lobster-claw foot deformity NOT_TRANSLATED -HP:0001839 Split-foot NOT_TRANSLATED -HP:0001840 Forefoot varus NOT_TRANSLATED -HP:0001840 Front half of foot turns inward NOT_TRANSLATED -HP:0001840 Intoe NOT_TRANSLATED -HP:0001840 Metatarsus adductovarsus NOT_TRANSLATED -HP:0001840 Metatarsus varus NOT_TRANSLATED -HP:0100145 Triangular end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001841 Partial/complete duplication of the phalanges of the big toe NOT_TRANSLATED -HP:0001841 Polydactyly affecting the hallux NOT_TRANSLATED -HP:0001841 Preaxial hallucal polydactyly NOT_TRANSLATED -HP:0001841 Preaxial polydactyly of feet NOT_TRANSLATED -HP:0001841 Preaxial polydactyly of foot NOT_TRANSLATED -HP:0001841 Preaxial polydactyly of the feet NOT_TRANSLATED -HP:0001841 Preaxial polydactyly, feet NOT_TRANSLATED -HP:0100144 Speckled calcifications in the end part of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0001842 Acroosteolysis of feet NOT_TRANSLATED -HP:0100147 Bracket shaped end part of the middle bone of 3rd toe NOT_TRANSLATED -HP:0100146 Absent end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001844 Abnormalities of the hallux NOT_TRANSLATED -HP:0001844 Abnormality of the big toe NOT_TRANSLATED -HP:0100149 Enlarged end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001845 Crossover toe NOT_TRANSLATED -HP:0001845 Overlapping toes NOT_TRANSLATED -HP:0001845 Overriding toes NOT_TRANSLATED -HP:0100148 Cone-shaped end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0100151 Irregular end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001847 Increased length of the hallux NOT_TRANSLATED -HP:0001847 Large halluces NOT_TRANSLATED -HP:0001847 Long big toe NOT_TRANSLATED -HP:0001847 Long halluces NOT_TRANSLATED -HP:0100150 Fragmentation of the end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001848 Calcaneovalgus NOT_TRANSLATED -HP:0001848 Calcaneovalgus Foot NOT_TRANSLATED -HP:0001848 Foot and ankle bend up toward shin of leg NOT_TRANSLATED -HP:0001848 Valgus position of the calcaneus NOT_TRANSLATED -HP:0001849 Missing toes NOT_TRANSLATED -HP:0001849 Oligodactyly of feet NOT_TRANSLATED -HP:0100152 Increased bone density of end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001850 Abnormal ankle bones NOT_TRANSLATED -HP:0001850 Abnormal tarsals NOT_TRANSLATED -HP:0100155 Speckled calcifications in the end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0100154 Small end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001852 Gap between 1st and 2nd toes NOT_TRANSLATED -HP:0001852 Gap between first and second toe NOT_TRANSLATED -HP:0001852 Increased space between first and second toes NOT_TRANSLATED -HP:0001852 Sandal gap between first and second toes NOT_TRANSLATED -HP:0001852 Space between great toe and second toe NOT_TRANSLATED -HP:0001852 Wide space between 1st, 2nd toes NOT_TRANSLATED -HP:0001852 Wide space between first and second toes NOT_TRANSLATED -HP:0001852 Wide-spaced big toe NOT_TRANSLATED -HP:0001852 Widely spaced 1st-2nd toes NOT_TRANSLATED -HP:0001852 Widely spaced first and second toes NOT_TRANSLATED -HP:0001852 Widened gap 1st-2nd toes NOT_TRANSLATED -HP:0001852 Widened gap first and second toe NOT_TRANSLATED -HP:0100157 Absent end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0001853 Bifid distal phalanges of toes NOT_TRANSLATED -HP:0001853 Bifid terminal phalanx of toe NOT_TRANSLATED -HP:0001853 Notched outermost bones of toes NOT_TRANSLATED -HP:0100156 Triangular end part of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0001854 Gout of big toe NOT_TRANSLATED -HP:0100159 Cone-shaped end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100158 Bracket shaped end part of the innermost bone of 3rd toe NOT_TRANSLATED -HP:0100161 Fragmentation of the end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0001857 Hypoplastic distal phalanges of feet NOT_TRANSLATED -HP:0001857 Short outermost bone of toe NOT_TRANSLATED -HP:0100160 Enlarged end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100163 Increased bone density of end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100162 Irregular end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100165 Small end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100167 Triangular end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0001863 Clinodactyly of feet NOT_TRANSLATED -HP:0001863 Toe curvature NOT_TRANSLATED -HP:0100166 Speckled calcifications in of the end part of the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0001864 Curvature of the little toe NOT_TRANSLATED -HP:0001864 Curvature of the pinkie toe NOT_TRANSLATED -HP:0001864 Curvature of the pinky toe NOT_TRANSLATED -HP:0100169 Absent end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0100168 Fragmented end part of bone NOT_TRANSLATED -HP:0100171 Cone-shaped end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0100170 Bracket shaped end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0100173 Fragmentation of the end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001869 Deep wrinkles in soles of feet NOT_TRANSLATED -HP:0100172 Enlarged end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001870 Acroosteolysis of distal phalanges of feet NOT_TRANSLATED -HP:0100175 Increased bone density of end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001871 Abnormality of the haematopoietic system NOT_TRANSLATED -HP:0001871 Abnormality of the hematopoietic system NOT_TRANSLATED -HP:0001871 Haematological abnormality NOT_TRANSLATED -HP:0001871 Hematologic disease NOT_TRANSLATED -HP:0001871 Hematological abnormality NOT_TRANSLATED -HP:0100174 Irregular end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001872 Blood platelet disease NOT_TRANSLATED -HP:0001872 Platelet abnormalities NOT_TRANSLATED -HP:0001872 Thrombasthenia NOT_TRANSLATED -HP:0100177 Small end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001873 Low platelet count NOT_TRANSLATED -HP:0001874 Abnormality of neutrophil NOT_TRANSLATED -HP:0001874 Abnormality of polymorphonuclear neutrophils NOT_TRANSLATED -HP:0100179 Triangular end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001875 Low blood neutrophil count NOT_TRANSLATED -HP:0001875 Low neutrophil count NOT_TRANSLATED -HP:0001875 Neutropoenia NOT_TRANSLATED -HP:0001875 Peripheral neutropenia NOT_TRANSLATED -HP:0100178 Speckled calcifications in the end part of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0001876 Low blood cell count NOT_TRANSLATED -HP:0001876 Pancytopaenia NOT_TRANSLATED -HP:0100181 Bracket shaped end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001877 Abnormality of erythrocytes NOT_TRANSLATED -HP:0001877 Abnormality of erythroid lineage cell NOT_TRANSLATED -HP:0001877 Abnormality of red blood cells NOT_TRANSLATED -HP:0100180 Absent end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001878 Haemolytic anaemia NOT_TRANSLATED -HP:0001878 Hemolytic anaemia NOT_TRANSLATED -HP:0001878 Increased hemolysis NOT_TRANSLATED -HP:0100183 Enlarged end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001879 Abnormality of eosinophils NOT_TRANSLATED -HP:0100182 Cone-shaped end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001880 High blood eosinophil count NOT_TRANSLATED -HP:0100185 Irregular end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001881 Abnormality of leukocytes NOT_TRANSLATED -HP:0100184 Fragmentation of the end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001882 Decreased blood leukocyte number NOT_TRANSLATED -HP:0001882 Low white blood cell count NOT_TRANSLATED -HP:0001883 Talipes foot deformities NOT_TRANSLATED -HP:0100186 Increased bone density of end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001884 Pes calcaneovarus NOT_TRANSLATED -HP:0100189 Speckled calcifications in the end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001885 Short second toe NOT_TRANSLATED -HP:0100188 Small end part of middle long bone of 4th toe NOT_TRANSLATED -HP:0001886 Foot bone infection NOT_TRANSLATED -HP:0100191 Absent end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0100190 Triangular end part of the middle bone of the 4th toe NOT_TRANSLATED -HP:0001888 Absolute lymphocyte count decrease NOT_TRANSLATED -HP:0001888 Decreased blood lymphocyte number NOT_TRANSLATED -HP:0001888 Low lymphocyte number NOT_TRANSLATED -HP:0001888 Lymphocytopenia NOT_TRANSLATED -HP:0100193 Cone-shaped end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0001889 Megaloblastic anaemia NOT_TRANSLATED -HP:0100192 Bracket shaped end part of the innermost bone of 4th toe NOT_TRANSLATED -HP:0001890 Autoimmune haemolytic anaemia NOT_TRANSLATED -HP:0001890 Autoimmune hemolytic anaemia NOT_TRANSLATED -HP:0001890 Hemolytic anemia, autoimmune NOT_TRANSLATED -HP:0100195 Fragmentation of the end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0001891 Ferropenic NOT_TRANSLATED -HP:0001891 Iron deficiency anaemia NOT_TRANSLATED -HP:0001891 Iron-deficiency anaemia NOT_TRANSLATED -HP:0001891 Iron-deficiency anemia NOT_TRANSLATED -HP:0100194 Enlarged end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0001892 Bleeding diathesis NOT_TRANSLATED -HP:0001892 Bleeding tendency NOT_TRANSLATED -HP:0001892 Hemorrhagic diathesis NOT_TRANSLATED -HP:0100197 Increased bone density of end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0100196 Irregular end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0001894 Increased number of platelets in blood NOT_TRANSLATED -HP:0001894 Increased platelet count NOT_TRANSLATED -HP:0001894 Thrombocythaemia NOT_TRANSLATED -HP:0001894 Thrombocythemia NOT_TRANSLATED -HP:0100199 Small end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0001895 Normochromic anaemia NOT_TRANSLATED -HP:0100201 Triangular end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0001897 Normocytic anaemia NOT_TRANSLATED -HP:0100200 Speckled calcifications in the end part of the innermost bone of the 4th toe NOT_TRANSLATED -HP:0001898 Increased RBC mass NOT_TRANSLATED -HP:0100203 Bracket shaped end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100203 Bracket shaped end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100203 Bracket shaped end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0001899 Increased Hct NOT_TRANSLATED -HP:0100202 Absent end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100202 Absent end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100202 Absent end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0001900 Increased haemoglobin NOT_TRANSLATED -HP:0001900 Increased Hb NOT_TRANSLATED -HP:0100205 Enlarged end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100205 Enlarged end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100205 Enlarged end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0001901 Abnormally shaped erythrocytes NOT_TRANSLATED -HP:0001901 Erythrocytosis NOT_TRANSLATED -HP:0001901 Increased red blood cells NOT_TRANSLATED -HP:0001901 Polyglobulia NOT_TRANSLATED -HP:0100204 Cone-shaped end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100204 Cone-shaped end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100204 Cone-shaped end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0100207 Irregular end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100207 Irregular end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100207 Irregular end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0001903 Anaemia NOT_TRANSLATED -HP:0001903 Decreased haemoglobin NOT_TRANSLATED -HP:0001903 Decreased hemoglobin NOT_TRANSLATED -HP:0001903 Low number of red blood cells or haemoglobin NOT_TRANSLATED -HP:0001903 Low number of red blood cells or hemoglobin NOT_TRANSLATED -HP:0100206 Fragmentation of the end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100206 Fragmentation of the end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100206 Fragmentation of the end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0001904 Autoimmune neutropenia NOT_TRANSLATED -HP:0001905 thrombocytopenia, congenital NOT_TRANSLATED -HP:0100208 Increased bone density of end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100208 Increased bone density of end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100208 Increased bone density of end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0100211 Speckled calcifications in the end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100211 Speckled calcifications in the end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100211 Speckled calcifications in the end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0001907 Blood clot in blood vessel NOT_TRANSLATED -HP:0001907 Embolism and thrombosis NOT_TRANSLATED -HP:0001907 Thromboembolic disease NOT_TRANSLATED -HP:0001907 Thromboembolic events NOT_TRANSLATED -HP:0100210 Small end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100210 Small end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100210 Small end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0001908 Hypoplastic anaemia NOT_TRANSLATED -HP:0100213 Absent end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100213 Absent end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100213 Absent end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0001909 Blood cancer NOT_TRANSLATED -HP:0001909 Leukaemia NOT_TRANSLATED -HP:0100212 Triangular end part of the outermost bone of the little toe NOT_TRANSLATED -HP:0100212 Triangular end part of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100212 Triangular end part of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0100215 Cone-shaped end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100215 Cone-shaped end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100215 Cone-shaped end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0001911 Abnormality of granulocytes NOT_TRANSLATED -HP:0100214 Bracket shaped end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100214 Bracket shaped end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100214 Bracket shaped end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0001912 Abnormality of basophils NOT_TRANSLATED -HP:0100217 Fragmentation of the end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100217 Fragmentation of the end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100217 Fragmentation of the end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100216 Enlarged end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100216 Enlarged end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100216 Enlarged end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100219 Increased bone density of end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100219 Increased bone density of end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100219 Increased bone density of end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0001915 Aplastic anaemia NOT_TRANSLATED -HP:0100218 Irregular end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100218 Irregular end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100218 Irregular end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100221 Small end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100221 Small end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100221 Small end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100223 Triangular end part of the middle bone of the little toe NOT_TRANSLATED -HP:0100223 Triangular end part of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100223 Triangular end part of the middle bone of the pinky toe NOT_TRANSLATED -HP:0001919 Acute kidney failure NOT_TRANSLATED -HP:0001919 Acute renal failure NOT_TRANSLATED -HP:0100222 Speckled calcifications in end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100222 Speckled calcifications in middle part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100222 Speckled calcifications in middle part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001920 Narrowing of kidney artery NOT_TRANSLATED -HP:0100225 Bracket shaped end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100225 Bracket shaped end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100225 Bracket shaped end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0100224 Absent end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100224 Absent end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100224 Absent end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001922 Enlarged lysosomal vacuoles in lymphocytes NOT_TRANSLATED -HP:0001922 Vacuolated blood lymphocytes NOT_TRANSLATED -HP:0100227 Enlarged end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100227 Enlarged end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100227 Enlarged end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001923 Increased immature red blood cells NOT_TRANSLATED -HP:0001923 Increased number of immature red blood cells NOT_TRANSLATED -HP:0001923 Increased reticulocyte count NOT_TRANSLATED -HP:0001923 Increased reticulocytes NOT_TRANSLATED -HP:0001923 Polychromasia NOT_TRANSLATED -HP:0100226 Cone-shaped end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100226 Cone-shaped end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100226 Cone-shaped end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001924 Hypersideremic anaemia NOT_TRANSLATED -HP:0001924 Hypersideremic anemia NOT_TRANSLATED -HP:0001924 Sideroblastic anaemia NOT_TRANSLATED -HP:0100229 Irregular end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100229 Irregular end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100229 Irregular end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0100228 Fragmentation of the end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100228 Fragmentation of the end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100228 Fragmentation of the end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001927 Acanthocytes NOT_TRANSLATED -HP:0001927 Red cell acanthocytosis NOT_TRANSLATED -HP:0100230 Increased bone density of end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100230 Increased bone density of end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100230 Increased bone density of end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001928 Abnormal blood coagulation studies NOT_TRANSLATED -HP:0001928 Blood coagulation disorder NOT_TRANSLATED -HP:0001928 Coagulation abnormalities NOT_TRANSLATED -HP:0001928 Coagulation abnormality NOT_TRANSLATED -HP:0001928 Haemorrhagic disorders NOT_TRANSLATED -HP:0100233 Speckled calcifications in the end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100233 Speckled calcifications in the end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100233 Speckled calcifications in the end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001929 Factor XI deficiency NOT_TRANSLATED -HP:0001929 Low factor XI activity NOT_TRANSLATED -HP:0100232 Small end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100232 Small end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100232 Small end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001930 Nonspherocytic hemolytic anaemia NOT_TRANSLATED -HP:0100235 Fusion involving bones of the toes NOT_TRANSLATED -HP:0001931 Hypochromic anaemia NOT_TRANSLATED -HP:0100234 Triangular end part of the innermost bone of the little toe NOT_TRANSLATED -HP:0100234 Triangular end part of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100234 Triangular end part of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0001933 Bleeding below the skin NOT_TRANSLATED -HP:0001933 Subcutaneous haemorrhage NOT_TRANSLATED -HP:0001934 Excessive bleeding after minor trauma NOT_TRANSLATED -HP:0001934 Frequent bleeding with trauma NOT_TRANSLATED -HP:0001934 Prolonged bleeding after minor trauma NOT_TRANSLATED -HP:0001935 Microcytic anaemia NOT_TRANSLATED -HP:0100238 Fusion involving bones of the upper limbs NOT_TRANSLATED -HP:0001937 Microangiopathic hemolytic anaemia NOT_TRANSLATED -HP:0100240 Bony ankylosis NOT_TRANSLATED -HP:0100240 Fusion of joints NOT_TRANSLATED -HP:0001939 Laboratory abnormality NOT_TRANSLATED -HP:0001939 Metabolism abnormality NOT_TRANSLATED -HP:0100242 Cancer of connective tissue NOT_TRANSLATED -HP:0100242 Malignant connective tissue tumor NOT_TRANSLATED -HP:0100242 Malignant connective tissue tumour NOT_TRANSLATED -HP:0100245 Desmoid tumours NOT_TRANSLATED -HP:0100247 Hiccup NOT_TRANSLATED -HP:0100247 Hiccups NOT_TRANSLATED -HP:0100247 Recurrent hiccough NOT_TRANSLATED -HP:0100247 Recurrent hiccup NOT_TRANSLATED -HP:0100247 Recurrent synchronous diaphragmatic flutter NOT_TRANSLATED -HP:0001943 Hypoglycaemia NOT_TRANSLATED -HP:0001943 Low blood sugar NOT_TRANSLATED -HP:0001944 Exsiccosis NOT_TRANSLATED -HP:0100249 Skeletal muscle calcinosis NOT_TRANSLATED -HP:0001945 Hyperthermia NOT_TRANSLATED -HP:0001945 Pyrexia NOT_TRANSLATED -HP:0100248 Ballismus NOT_TRANSLATED -HP:0001946 High levels of ketone bodies NOT_TRANSLATED -HP:0001946 Hyperketosis NOT_TRANSLATED -HP:0100251 Lipomas of the central nervous system NOT_TRANSLATED -HP:0001947 Accumulation of acid in body due to kidney problem NOT_TRANSLATED -HP:0100253 Abnormality of the marrow cavity of the long bones NOT_TRANSLATED -HP:0001952 Abnormal glucose tolerance NOT_TRANSLATED -HP:0100257 Cleft hand NOT_TRANSLATED -HP:0100257 Lobster claw hand NOT_TRANSLATED -HP:0001953 Diabetic ketosis NOT_TRANSLATED -HP:0100256 Braindruse NOT_TRANSLATED -HP:0100256 Neuritic plaques NOT_TRANSLATED -HP:0100256 Senile druse NOT_TRANSLATED -HP:0001954 Episodic fever NOT_TRANSLATED -HP:0001954 Hyperthermia, episodic NOT_TRANSLATED -HP:0001954 Increased body temperature, episodic NOT_TRANSLATED -HP:0001954 Intermittent fever NOT_TRANSLATED -HP:0100259 Polydactyly, postaxial NOT_TRANSLATED -HP:0100259 Postaxial hexadactyly NOT_TRANSLATED -HP:0100258 Polydactyly, preaxial NOT_TRANSLATED -HP:0001956 Centripetal obesity NOT_TRANSLATED -HP:0100261 Abnormal shape of tendon NOT_TRANSLATED -HP:0100261 Abnormality of the sinew NOT_TRANSLATED -HP:0100260 Central polydactyly NOT_TRANSLATED -HP:0100260 Insertional polydactyly NOT_TRANSLATED -HP:0100260 Intercalary polydactyly NOT_TRANSLATED -HP:0100263 Symphalangism, distal NOT_TRANSLATED -HP:0001959 Extreme thirst NOT_TRANSLATED -HP:0100262 Fusion involving digits NOT_TRANSLATED -HP:0100265 Fusion of long bones of hand/long bones of foot NOT_TRANSLATED -HP:0001961 Small heart NOT_TRANSLATED -HP:0001961 Underdeveloped heart NOT_TRANSLATED -HP:0100264 Cushing's symphalangism NOT_TRANSLATED -HP:0001962 Heart palpitations NOT_TRANSLATED -HP:0001962 Missed heart beat NOT_TRANSLATED -HP:0001962 Skipped heart beat NOT_TRANSLATED -HP:0001963 Poor speech discrimination NOT_TRANSLATED -HP:0100266 Carpal and tarsal fusions NOT_TRANSLATED -HP:0100266 Coalescence of carpal and tarsal bones NOT_TRANSLATED -HP:0100266 Fusion of carpal and tarsal bones NOT_TRANSLATED -HP:0100266 Wrist bone/ankle bone fusions NOT_TRANSLATED -HP:0001964 Absent or hypoplastic metatarsal NOT_TRANSLATED -HP:0001964 Absent/hypoplastic metacarpals NOT_TRANSLATED -HP:0001964 Absent/hypoplastic metatarsals NOT_TRANSLATED -HP:0001964 Absent/small long bone of foot NOT_TRANSLATED -HP:0001964 Absent/underdeveloped long bone of foot NOT_TRANSLATED -HP:0001964 Aplastic/hypoplastic metatarsals NOT_TRANSLATED -HP:0100269 Paramedian labial pits NOT_TRANSLATED -HP:0001965 Abnormality of the scalp NOT_TRANSLATED -HP:0001965 Anomaly of scalp NOT_TRANSLATED -HP:0001966 Abnormality glomerular mesangium morphology NOT_TRANSLATED -HP:0001966 Abnormality of the glomerular mesangium NOT_TRANSLATED -HP:0001966 Mesangial abnormality NOT_TRANSLATED -HP:0001967 Diffuse mesangial sclerosis glomerulopathy NOT_TRANSLATED -HP:0001967 Mesangial sclerosis NOT_TRANSLATED -HP:0100273 Colon tumor NOT_TRANSLATED -HP:0100273 Colon tumour NOT_TRANSLATED -HP:0001969 Tubulointerstitial abnormality NOT_TRANSLATED -HP:0001969 Tubulointerstitial nephropathy NOT_TRANSLATED -HP:0100272 Branchial cleft sinus NOT_TRANSLATED -HP:0001970 Interstitial nephritis NOT_TRANSLATED -HP:0001970 Nephritis, Tubulointerstitial NOT_TRANSLATED -HP:0001972 Macrocytic anaemia NOT_TRANSLATED -HP:0100277 Periauricular earpits NOT_TRANSLATED -HP:0100277 Periauricular fistulas NOT_TRANSLATED -HP:0100277 Periauricular pits NOT_TRANSLATED -HP:0100277 Periauricular sinus NOT_TRANSLATED -HP:0100277 Pits around the ear NOT_TRANSLATED -HP:0001973 Idiopathic thrombocytopenia NOT_TRANSLATED -HP:0001973 Idiopathic thrombocytopenic purpura NOT_TRANSLATED -HP:0001973 Immune thrombocytopenia NOT_TRANSLATED -HP:0100276 Skin pits NOT_TRANSLATED -HP:0001974 Elevated white blood count NOT_TRANSLATED -HP:0001974 High white blood count NOT_TRANSLATED -HP:0001974 Increased blood leukocyte number NOT_TRANSLATED -HP:0100279 Colitis ulcerosa NOT_TRANSLATED -HP:0001975 Glanzmann thrombasthenia NOT_TRANSLATED -HP:0001975 Reduced level of platelet glycoprotein IIb/IIIa complex NOT_TRANSLATED -HP:0001976 Anti-thrombin III deficiency NOT_TRANSLATED -HP:0001976 Antithrombin III deficiency NOT_TRANSLATED -HP:0001976 Decreased antithrombin III NOT_TRANSLATED -HP:0001977 Abnormal blood clot NOT_TRANSLATED -HP:0001977 Abnormal blood clotting NOT_TRANSLATED -HP:0100280 Granulomatous enteritis and colitis NOT_TRANSLATED -HP:0100280 Morbus Crohn NOT_TRANSLATED -HP:0001978 Extramedullary erythropoiesis NOT_TRANSLATED -HP:0001981 Schistocytes NOT_TRANSLATED -HP:0001982 Sea-blue histiocyte NOT_TRANSLATED -HP:0001983 Cd43 defectively expressed on surface of blood cells NOT_TRANSLATED -HP:0001983 Reduced lymphocyte surface expression of sialophorin NOT_TRANSLATED -HP:0100289 Abnormality of pattern reversal VEP NOT_TRANSLATED -HP:0001985 Hypoglycemia, hypoketotic NOT_TRANSLATED -HP:0001986 Hyperosmolar dehydration NOT_TRANSLATED -HP:0001987 High blood ammonia levels NOT_TRANSLATED -HP:0001988 hypoglycaemia, recurrent NOT_TRANSLATED -HP:0001988 hypoglycemia, recurrent NOT_TRANSLATED -HP:0001988 Hypoglycemic episodes NOT_TRANSLATED -HP:0001988 Recurrent hypoglycaemia NOT_TRANSLATED -HP:0001988 Recurrent hypoglycemic episodes NOT_TRANSLATED -HP:0001988 Recurrent low blood sugar levels NOT_TRANSLATED -HP:0100293 Muscle fiber hypertrophy NOT_TRANSLATED -HP:0100293 Muscle fibre hypertrophy NOT_TRANSLATED -HP:0001989 Early severe fetal akinesia sequence NOT_TRANSLATED -HP:0001989 Early severe foetal akinesia sequence NOT_TRANSLATED -HP:0001989 Fetal akinesia NOT_TRANSLATED -HP:0001989 Foetal akinesia NOT_TRANSLATED -HP:0001989 Foetal akinesia sequence NOT_TRANSLATED -HP:0100295 Muscle fiber degeneration NOT_TRANSLATED -HP:0100295 Muscle fibre atrophy NOT_TRANSLATED -HP:0100295 Muscle fibre degeneration NOT_TRANSLATED -HP:0001991 Absent/hypoplastic toes NOT_TRANSLATED -HP:0001991 Absent/small toe NOT_TRANSLATED -HP:0001991 Absent/underdeveloped toe NOT_TRANSLATED -HP:0001991 Aplastic/hypoplastic toe phalanges NOT_TRANSLATED -HP:0100297 Endomysial fibrosis NOT_TRANSLATED -HP:0100296 Perifascicular muscle fibre atrophy NOT_TRANSLATED -HP:0001994 De toni-fanconi-debre syndrome NOT_TRANSLATED -HP:0001994 Renal tubular fanconi syndrome NOT_TRANSLATED -HP:0100299 Muscle fibre inclusion bodies NOT_TRANSLATED -HP:0100298 Motheaten muscle fibres NOT_TRANSLATED -HP:0100301 Muscle fiber tubular aggregates NOT_TRANSLATED -HP:0100301 Muscle fibre tubular aggregates NOT_TRANSLATED -HP:0100301 Muscle fibre tubular inclusions NOT_TRANSLATED -HP:0001997 Gouty arthritis NOT_TRANSLATED -HP:0001998 Low blood sugar in newborn NOT_TRANSLATED -HP:0100303 Muscle fiber cytoplasmic bodies NOT_TRANSLATED -HP:0100303 Muscle fibre cytoplasmatic inclusion bodies NOT_TRANSLATED -HP:0100303 Muscle fibre cytoplasmic bodies NOT_TRANSLATED -HP:0001999 Abnormal morphology of the face NOT_TRANSLATED -HP:0001999 Deformity of face NOT_TRANSLATED -HP:0001999 Distinctive facies NOT_TRANSLATED -HP:0001999 Distortion of face NOT_TRANSLATED -HP:0001999 Dysmorphic facial features NOT_TRANSLATED -HP:0001999 Dysmorphic facies NOT_TRANSLATED -HP:0001999 Facial dysmorphism NOT_TRANSLATED -HP:0001999 Funny looking face NOT_TRANSLATED -HP:0001999 Malformation of face NOT_TRANSLATED -HP:0001999 Unusual facial appearance NOT_TRANSLATED -HP:0001999 Unusual facies NOT_TRANSLATED -HP:0100302 Muscle fiber tubuloreticular aggregates NOT_TRANSLATED -HP:0100302 Muscle fibre tubuloreticular aggregates NOT_TRANSLATED -HP:0100302 Muscle fibre tubuloreticular inclusions NOT_TRANSLATED -HP:0002000 Columella, short NOT_TRANSLATED -HP:0002000 Decreased length of columella NOT_TRANSLATED -HP:0002000 Hypoplasia of columella NOT_TRANSLATED -HP:0100305 Ring fibres NOT_TRANSLATED -HP:0100304 Muscle fibre intranuclear inclusion bodies NOT_TRANSLATED -HP:0002002 Depressed philtrum NOT_TRANSLATED -HP:0002002 Increased depth of philtrum NOT_TRANSLATED -HP:0002002 Philtrum, deep NOT_TRANSLATED -HP:0002002 Prominent philtrum NOT_TRANSLATED -HP:0002002 Pronounced philtrum NOT_TRANSLATED -HP:0002003 Hyperplasia of forehead NOT_TRANSLATED -HP:0002003 Hypertrophy of forehead NOT_TRANSLATED -HP:0002003 Increased size of forehead NOT_TRANSLATED -HP:0002003 Increased size of frontal region of face NOT_TRANSLATED -HP:0100306 Muscle fibre hyaline bodies NOT_TRANSLATED -HP:0100309 Subdural haematoma NOT_TRANSLATED -HP:0100309 Subdural haemorrhage NOT_TRANSLATED -HP:0100309 Subdural hematoma NOT_TRANSLATED -HP:0002006 Cleft of the face NOT_TRANSLATED -HP:0002006 Facial clefts NOT_TRANSLATED -HP:0002006 Tessier facial cleft NOT_TRANSLATED -HP:0002007 Frontal protruberance NOT_TRANSLATED -HP:0002007 Skull bossing NOT_TRANSLATED -HP:0100310 Epidural haematoma NOT_TRANSLATED -HP:0100310 Epidural haemorrhage NOT_TRANSLATED -HP:0100310 Epidural hematoma NOT_TRANSLATED -HP:0100310 Extradural haematoma NOT_TRANSLATED -HP:0100310 Extradural hematoma NOT_TRANSLATED -HP:0002010 Decreased breadth of upper jaw bones NOT_TRANSLATED -HP:0002010 Decreased transverse dimension of maxilla NOT_TRANSLATED -HP:0002010 Decreased width of maxilla NOT_TRANSLATED -HP:0002010 Decreased width of upper jaw bones NOT_TRANSLATED -HP:0002010 Narrow upper jaw bones NOT_TRANSLATED -HP:0002010 Transverse hypoplasia of maxilla NOT_TRANSLATED -HP:0002010 Transverse maxillary deficiency NOT_TRANSLATED -HP:0002010 Transverse maxillary insufficiency NOT_TRANSLATED -HP:0100315 Lewy body disease NOT_TRANSLATED -HP:0002011 Abnormality of the central nervous system NOT_TRANSLATED -HP:0002011 Central nervous system disease NOT_TRANSLATED -HP:0002011 Morphological abnormality of the central nervous system NOT_TRANSLATED -HP:0002011 Morphological abnormality of the CNS NOT_TRANSLATED -HP:0002012 Gastrointestinal tract defects NOT_TRANSLATED -HP:0100317 Agyrophilic inclusion bodies NOT_TRANSLATED -HP:0100317 Pick inclusion bodies NOT_TRANSLATED -HP:0002013 Emesis NOT_TRANSLATED -HP:0002013 Throwing up NOT_TRANSLATED -HP:0002014 Diarrhoea NOT_TRANSLATED -HP:0002014 Watery stool NOT_TRANSLATED -HP:0100319 Cerebral colloid bodies NOT_TRANSLATED -HP:0002015 Deglutition disorder NOT_TRANSLATED -HP:0002015 Difficulty swallowing NOT_TRANSLATED -HP:0002015 Poor swallowing NOT_TRANSLATED -HP:0002015 Swallowing difficulties NOT_TRANSLATED -HP:0002015 Swallowing difficulty NOT_TRANSLATED -HP:0100321 Abnormality of the dentate nucleus NOT_TRANSLATED -HP:0100320 Rosenthal fibres NOT_TRANSLATED -HP:0100323 Aseptic epiphyseal necrosis NOT_TRANSLATED -HP:0002019 Costiveness NOT_TRANSLATED -HP:0002019 Dyschezia NOT_TRANSLATED -HP:0100322 Absent pyramidal tract NOT_TRANSLATED -HP:0002020 Acid reflux NOT_TRANSLATED -HP:0002020 Acid reflux disease NOT_TRANSLATED -HP:0002020 Gastro-esophageal reflux NOT_TRANSLATED -HP:0002020 Gastro-oesophageal reflux NOT_TRANSLATED -HP:0002020 Gastroesophageal reflux disease NOT_TRANSLATED -HP:0002020 GERD NOT_TRANSLATED -HP:0002020 Heartburn NOT_TRANSLATED -HP:0002021 Infantile hypertrophic pyloric stenosis NOT_TRANSLATED -HP:0002021 Pylorus stenosis NOT_TRANSLATED -HP:0100324 Progressive systemic scleroderma NOT_TRANSLATED -HP:0100324 Pseudoscleroderma NOT_TRANSLATED -HP:0100327 IgE-mediated cow milk allergy NOT_TRANSLATED -HP:0100327 Immunoglobulin E-mediated cow milk allergy NOT_TRANSLATED -HP:0100327 Milk allergy NOT_TRANSLATED -HP:0002023 Absent anus NOT_TRANSLATED -HP:0002023 Imperforate anus NOT_TRANSLATED -HP:0002024 Intestinal malabsorption NOT_TRANSLATED -HP:0100329 Fused bones of the midfoot NOT_TRANSLATED -HP:0002025 Narrowing of anal opening NOT_TRANSLATED -HP:0100328 Fused wrist bones and long bones of hand NOT_TRANSLATED -HP:0002027 Abdominal discomfort NOT_TRANSLATED -HP:0002027 Gastro pain NOT_TRANSLATED -HP:0002027 Gastrointestinal pain NOT_TRANSLATED -HP:0002027 Pain in stomach NOT_TRANSLATED -HP:0002027 Stomach pain NOT_TRANSLATED -HP:0002027 Upset stomach NOT_TRANSLATED -HP:0002028 Chronic diarrhoea NOT_TRANSLATED -HP:0002028 Diarrhea, recurrent NOT_TRANSLATED -HP:0002028 Recurrent diarrhea NOT_TRANSLATED -HP:0002028 Recurrent diarrhoea NOT_TRANSLATED -HP:0100333 One sided cleft upper lip NOT_TRANSLATED -HP:0100333 Unilateral cheiloschisis NOT_TRANSLATED -HP:0100333 Unilateral cleft upper lip NOT_TRANSLATED -HP:0100335 Non-midline cleft of the upper lip NOT_TRANSLATED -HP:0100335 Paramedian cleft of the upper lip NOT_TRANSLATED -HP:0002031 Abnormal oesophagus morphology NOT_TRANSLATED -HP:0002031 Abnormality of esophagus structure NOT_TRANSLATED -HP:0002031 Abnormality of oesophagus structure NOT_TRANSLATED -HP:0002031 Anomaly of the esophagus NOT_TRANSLATED -HP:0002031 Anomaly of the oesophagus NOT_TRANSLATED -HP:0100334 One sided cleft palate NOT_TRANSLATED -HP:0100334 Unilateral palatoschisis NOT_TRANSLATED -HP:0002032 Birth defect in which part of esophagus did not develop NOT_TRANSLATED -HP:0002032 Birth defect in which part of oesophagus did not develop NOT_TRANSLATED -HP:0100337 Bilateral palatoschisis NOT_TRANSLATED -HP:0100337 Right and left cleft palate NOT_TRANSLATED -HP:0002033 Poor sucking NOT_TRANSLATED -HP:0002033 Sucking weakness NOT_TRANSLATED -HP:0100336 Bilateral cheiloschisis NOT_TRANSLATED -HP:0100336 Both sided cleft lip NOT_TRANSLATED -HP:0100336 Right and left cleft lip NOT_TRANSLATED -HP:0002034 Abnormality of the rectum NOT_TRANSLATED -HP:0002034 Anomaly of the rectum NOT_TRANSLATED -HP:0002035 Rectal prolapsed NOT_TRANSLATED -HP:0002035 Rectum protrudes through anus NOT_TRANSLATED -HP:0100338 Paramedian cleft palate NOT_TRANSLATED -HP:0002036 Hiatal hernia NOT_TRANSLATED -HP:0002036 Stomach hernia NOT_TRANSLATED -HP:0002037 Inflammatory bowel disease NOT_TRANSLATED -HP:0002040 Enlarged vein in esophagus NOT_TRANSLATED -HP:0002040 Enlarged vein in oesophagus NOT_TRANSLATED -HP:0002040 Esophageal varices NOT_TRANSLATED -HP:0002041 Intractable diarrhoea NOT_TRANSLATED -HP:0002043 Narrowing of esophagus due to inflammation and scar tissue NOT_TRANSLATED -HP:0002043 Narrowing of oesophagus due to inflammation and scar tissue NOT_TRANSLATED -HP:0100349 Camptodactyly of the 3rd toe NOT_TRANSLATED -HP:0002045 Abnormally low body temperature NOT_TRANSLATED -HP:0100348 Camptodactyly of the 2nd toe NOT_TRANSLATED -HP:0100348 Camptodactyly of the second toe NOT_TRANSLATED -HP:0002046 Intolerance to heat and fevers NOT_TRANSLATED -HP:0100351 Camptodactyly of the 5th toe NOT_TRANSLATED -HP:0100351 Camptodactyly of the fifth toe NOT_TRANSLATED -HP:0002047 Malignant hyperthermia with anaesthesia NOT_TRANSLATED -HP:0002047 Malignant hyperthermia with anesthesia NOT_TRANSLATED -HP:0100350 Camptodactyly of the 4th toe NOT_TRANSLATED -HP:0100350 Camptodactyly of the fourth toe NOT_TRANSLATED -HP:0100350 Contracture of the innermost hinge joint of the 4th toe NOT_TRANSLATED -HP:0002049 Proximal tubular acidosis NOT_TRANSLATED -HP:0002049 Renal tubular acidosis, proximal NOT_TRANSLATED -HP:0002049 Renal tubular acidosis, type II NOT_TRANSLATED -HP:0100352 Contracture of the distal interphalangeal joint of the second toe NOT_TRANSLATED -HP:0100355 Contracture of the outermost hinge joint of the 5th toe NOT_TRANSLATED -HP:0002054 Heavy brow of the face NOT_TRANSLATED -HP:0002054 Heavy supraorbital ridge NOT_TRANSLATED -HP:0002056 Afwijking van het gebied tussen de wenkbrauwen CANDIDATE -HP:0002056 Deformiteit van het gebied tussen de wenkbrauwen CANDIDATE -HP:0002056 Glabellaire afwijking CANDIDATE -HP:0002056 Malformatie van het gebied tussen de wenkbrauwen CANDIDATE -HP:0002057 Convex glabella CANDIDATE -HP:0002057 Hyperplasie van glabella CANDIDATE -HP:0002057 Prominent gebied tussen de wenkbrauwen CANDIDATE -HP:0002057 Vooruitstekend gebied tussen de wenkbrauwen CANDIDATE -HP:0100360 Contractures of the joints of the upper limbs NOT_TRANSLATED -HP:0002058 Myopathic face NOT_TRANSLATED -HP:0002058 Myopathic facial appearance NOT_TRANSLATED -HP:0100363 Absent bones of the 4th toe NOT_TRANSLATED -HP:0002059 Degeneration of cerebrum NOT_TRANSLATED -HP:0002059 Supratentorial atrophy NOT_TRANSLATED -HP:0100362 Absent digital bone of the 3rd toe NOT_TRANSLATED -HP:0002060 Abnormality of the cerebrum NOT_TRANSLATED -HP:0002060 Abnormality of the telencephalon NOT_TRANSLATED -HP:0002060 Cerebral lesion NOT_TRANSLATED -HP:0100364 Absent little toe bones NOT_TRANSLATED -HP:0100364 Absent pinkie toe bones NOT_TRANSLATED -HP:0100364 Absent pinky toe bones NOT_TRANSLATED -HP:0002062 Abnormality of the pyramidal tracts NOT_TRANSLATED -HP:0002062 Pyramidal tract disease NOT_TRANSLATED -HP:0100367 Hypoplastic/small phalanges of the 4th toe NOT_TRANSLATED -HP:0100367 Short 4th toe bone NOT_TRANSLATED -HP:0100367 Short phalanx of the fourth toe NOT_TRANSLATED -HP:0002063 Muscle rigidity NOT_TRANSLATED -HP:0100366 Hypoplastic/small phalanges of the 3rd toe NOT_TRANSLATED -HP:0100366 Short 3rd toe bone NOT_TRANSLATED -HP:0100366 Short phalanx of the third toe NOT_TRANSLATED -HP:0002064 Spastic walk NOT_TRANSLATED -HP:0100369 Absent/small outermost 3rd toe bone NOT_TRANSLATED -HP:0100369 Absent/underdeveloped outermost 3rd toe bone NOT_TRANSLATED -HP:0100368 Hypoplastic/small phalanges of the 5th toe NOT_TRANSLATED -HP:0100368 Short little toe bone NOT_TRANSLATED -HP:0100368 Short phalanx of the fifth toe NOT_TRANSLATED -HP:0100368 Short pinkie toe bone NOT_TRANSLATED -HP:0100368 Short pinky toe bone NOT_TRANSLATED -HP:0002066 Ataxia of gait NOT_TRANSLATED -HP:0002066 Ataxic gait NOT_TRANSLATED -HP:0002066 Inability to coordinate movements when walking NOT_TRANSLATED -HP:0100371 Absent/small outermost little toe bone NOT_TRANSLATED -HP:0100371 Absent/small outermost pinkie toe bone NOT_TRANSLATED -HP:0100371 Absent/small outermost pinky toe bone NOT_TRANSLATED -HP:0100371 Absent/underdeveloped outermost pinky toe bone NOT_TRANSLATED -HP:0002067 Slow movements NOT_TRANSLATED -HP:0002067 Slowness of movements NOT_TRANSLATED -HP:0100370 Absent/small outermost bone of 4th toe NOT_TRANSLATED -HP:0100370 Absent/underdeveloped outermost bone of 4th toe NOT_TRANSLATED -HP:0100373 Absent/small middle bone of the 4th toe NOT_TRANSLATED -HP:0100373 Absent/underdeveloped middle bone of the 4th toe NOT_TRANSLATED -HP:0002069 Bilateral convulsive seizures NOT_TRANSLATED -HP:0002069 Generalised convulsion NOT_TRANSLATED -HP:0002069 Generalised tonic-clonic seizure (without specification of onset) NOT_TRANSLATED -HP:0002069 Generalized convulsion NOT_TRANSLATED -HP:0002069 Generalized tonic-clonic seizure (without specification of onset) NOT_TRANSLATED -HP:0002069 Grand mal NOT_TRANSLATED -HP:0002069 Grand mal seizures NOT_TRANSLATED -HP:0002069 Seizures, tonic-clonic NOT_TRANSLATED -HP:0002069 Tonic-clonic convulsion NOT_TRANSLATED -HP:0002069 Tonic-clonic convulsions NOT_TRANSLATED -HP:0100372 Absent/small middle 3rd toe bone NOT_TRANSLATED -HP:0100372 Absent/underdeveloped middle 3rd toe bone NOT_TRANSLATED -HP:0002070 Appendicular ataxia NOT_TRANSLATED -HP:0100375 Absent/small innermost bone of 3rd toe NOT_TRANSLATED -HP:0100375 Absent/underdeveloped innermost bone of 3rd toe NOT_TRANSLATED -HP:0002071 Extrapyramidal dysfunction NOT_TRANSLATED -HP:0002071 Extrapyramidal signs NOT_TRANSLATED -HP:0002071 Extrapyramidal symptoms NOT_TRANSLATED -HP:0002071 Extrapyramidal syndrome NOT_TRANSLATED -HP:0002071 Extrapyramidal tract signs NOT_TRANSLATED -HP:0100374 Absent/small middle 5th toe bone NOT_TRANSLATED -HP:0100374 Absent/underdeveloped middle bone of little toe NOT_TRANSLATED -HP:0100374 Absent/underdeveloped middle bone of pinkie toe NOT_TRANSLATED -HP:0100374 Absent/underdeveloped middle bone of pinky toe NOT_TRANSLATED -HP:0002072 Choreatic disease NOT_TRANSLATED -HP:0002072 Choreic movements NOT_TRANSLATED -HP:0002072 Choreiform movements NOT_TRANSLATED -HP:0100377 Absent/small innermost little toe bone NOT_TRANSLATED -HP:0100377 Absent/small innermost pinkie toe bone NOT_TRANSLATED -HP:0100377 Absent/small innermost pinky toe bone NOT_TRANSLATED -HP:0100377 Absent/underdeveloped innermost 5th toe bone NOT_TRANSLATED -HP:0002073 Cerebellar ataxia, progressive NOT_TRANSLATED -HP:0002073 Progressive ataxia NOT_TRANSLATED -HP:0100376 Absent/small innermost 4th toe bone NOT_TRANSLATED -HP:0100376 Absent/underdeveloped innermost 4th toe bone NOT_TRANSLATED -HP:0002074 Neuronal lipopigments NOT_TRANSLATED -HP:0100379 Absent distal phalanx of the 4th toe NOT_TRANSLATED -HP:0100379 Absent outermost bone of the 4th toe NOT_TRANSLATED -HP:0002075 Difficulty performing quick and alternating movements NOT_TRANSLATED -HP:0002075 Dysdiadochokinesia NOT_TRANSLATED -HP:0100378 Absent distal phalanx of the third toe NOT_TRANSLATED -HP:0100378 Absent outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100378 Aplasia of the distal phalanx of the 3rd toe NOT_TRANSLATED -HP:0002076 Intermittent migraine headaches NOT_TRANSLATED -HP:0002076 Migraine headache NOT_TRANSLATED -HP:0002076 Migraine headaches NOT_TRANSLATED -HP:0100381 Absent middle bone of the 3rd toe NOT_TRANSLATED -HP:0100381 Absent middle phalanx of the third toe NOT_TRANSLATED -HP:0100381 Aplasia of the middle phalanx of the 3rd toe NOT_TRANSLATED -HP:0100380 Absent outermost bone of the little toe NOT_TRANSLATED -HP:0100380 Absent outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100380 Absent outermost bone of the pinky toe NOT_TRANSLATED -HP:0002078 Instability or lack of coordination of central trunk muscles NOT_TRANSLATED -HP:0002078 Trunk ataxia NOT_TRANSLATED -HP:0100383 Absent middle bone of little toe NOT_TRANSLATED -HP:0100383 Absent middle bone of pinkie toe NOT_TRANSLATED -HP:0100383 Absent middle bone of pinky toe NOT_TRANSLATED -HP:0002079 Corpus callosum hypoplasia NOT_TRANSLATED -HP:0002079 Hypoplasia of corpus callosum NOT_TRANSLATED -HP:0002079 Hypoplastic corpus callosum NOT_TRANSLATED -HP:0002079 Underdevelopment of part of brain called corpus callosum NOT_TRANSLATED -HP:0100382 Absent middle bone of 4th toe NOT_TRANSLATED -HP:0002080 Cerebellar tremor NOT_TRANSLATED -HP:0002080 Terminal tremor NOT_TRANSLATED -HP:0100385 Absent innermost bone of the 4th toe NOT_TRANSLATED -HP:0100384 Absent innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100384 Aplasia of the proximal phalanx of the 3rd toe NOT_TRANSLATED -HP:0100387 Absent middle toe bones NOT_TRANSLATED -HP:0100386 Absent innermost bone of the little toe NOT_TRANSLATED -HP:0100386 Absent innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100386 Absent innermost bone of the pinky toe NOT_TRANSLATED -HP:0002084 Bifid skull NOT_TRANSLATED -HP:0002084 Cranium bifidum NOT_TRANSLATED -HP:0100389 Hypoplastic/small distal phalanx of the 3rd toe NOT_TRANSLATED -HP:0100389 Short distal phalanx of the third toe NOT_TRANSLATED -HP:0100389 Short outermost bone of the 3rd toe NOT_TRANSLATED -HP:0002085 Brain tissue sticks out through back of skull NOT_TRANSLATED -HP:0002085 Occipital meningoencephalocele NOT_TRANSLATED -HP:0002085 Posterior encephalocele NOT_TRANSLATED -HP:0100388 Absent innermost toe bones NOT_TRANSLATED -HP:0002086 Respiratory abnormality NOT_TRANSLATED -HP:0100391 Hypoplastic/small distal phalanx of the 5th toe NOT_TRANSLATED -HP:0100391 Short distal phalanx of the fifth toe NOT_TRANSLATED -HP:0100391 Short outermost bone of the little toe NOT_TRANSLATED -HP:0100391 Short outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100391 Short outermost bone of the pinky toe NOT_TRANSLATED -HP:0002087 Upper respiratory tract issues NOT_TRANSLATED -HP:0100390 Hypoplastic/small distal phalanx of the 4th toe NOT_TRANSLATED -HP:0100390 Short distal phalanx of the fourth toe NOT_TRANSLATED -HP:0100390 Short outermost bone of the 4th toe NOT_TRANSLATED -HP:0002088 Abnormality of lung structure NOT_TRANSLATED -HP:0002088 Abnormality of the lungs NOT_TRANSLATED -HP:0002088 Abnormally shaped lung NOT_TRANSLATED -HP:0002088 Lung disease NOT_TRANSLATED -HP:0002088 Unusal lung shape NOT_TRANSLATED -HP:0100393 Hypoplastic/small middle phalanx of the 4th toe NOT_TRANSLATED -HP:0100393 Short middle bone of 4th toe NOT_TRANSLATED -HP:0100393 Short middle phalanx of the fourth toe NOT_TRANSLATED -HP:0002089 Hypoplastic lung NOT_TRANSLATED -HP:0002089 Hypoplastic lungs NOT_TRANSLATED -HP:0002089 Lung hypoplasia NOT_TRANSLATED -HP:0002089 Poorly developed lungs NOT_TRANSLATED -HP:0002089 Small lung NOT_TRANSLATED -HP:0002089 Underdeveloped lung NOT_TRANSLATED -HP:0100392 Hypoplastic/small middle phalanx of the 3rd toe NOT_TRANSLATED -HP:0100392 Short middle phalanx of the third toe NOT_TRANSLATED -HP:0100395 Hypoplastic/small proximal phalanx of the 3rd toe NOT_TRANSLATED -HP:0100395 Short proximal phalanx of the third toe NOT_TRANSLATED -HP:0002091 Restrictive deficit on pulmonary function testing NOT_TRANSLATED -HP:0002091 Restrictive deficit on pulmonary function tests NOT_TRANSLATED -HP:0002091 Restrictive lung disease NOT_TRANSLATED -HP:0002091 Restrictive respiratory disease NOT_TRANSLATED -HP:0002091 Restrictive respiratory insufficiency NOT_TRANSLATED -HP:0002091 Restrictive respiratory syndrome NOT_TRANSLATED -HP:0002091 Spirometric restriction NOT_TRANSLATED -HP:0002091 Stiff lung or chest wall causing decreased lung volume NOT_TRANSLATED -HP:0100394 Hypoplastic/small middle phalanx of the 5th toe NOT_TRANSLATED -HP:0100394 Short middle bone of little toe NOT_TRANSLATED -HP:0100394 Short middle bone of pinkie toe NOT_TRANSLATED -HP:0100394 Short middle bone of pinky toe NOT_TRANSLATED -HP:0100394 Short middle phalanx of the fifth toe NOT_TRANSLATED -HP:0002092 Increased blood pressure in blood vessels of lungs NOT_TRANSLATED -HP:0002092 Primary pulmonary hypertension NOT_TRANSLATED -HP:0002092 Pulmonary artery hypertension NOT_TRANSLATED -HP:0100397 Hypoplastic/small proximal phalanx of the 5th toe NOT_TRANSLATED -HP:0100397 Short innermost bone of little toe NOT_TRANSLATED -HP:0100397 Short innermost bone of pinkie toe NOT_TRANSLATED -HP:0100397 Short innermost bone of pinky toe NOT_TRANSLATED -HP:0100397 Short proximal phalanx of the fifth toe NOT_TRANSLATED -HP:0002093 Respiratory function loss NOT_TRANSLATED -HP:0002093 Respiratory impairment NOT_TRANSLATED -HP:0100396 Hypoplastic/small proximal phalanx of the 4th toe NOT_TRANSLATED -HP:0100396 Short fourth toe proximal phalanx NOT_TRANSLATED -HP:0100396 Short proximal phalanx of the fourth toe NOT_TRANSLATED -HP:0002094 Abnormal breathing NOT_TRANSLATED -HP:0002094 Breathing difficulty NOT_TRANSLATED -HP:0002094 Difficult to breathe NOT_TRANSLATED -HP:0002094 Difficulty breathing NOT_TRANSLATED -HP:0002094 Dyspnoea NOT_TRANSLATED -HP:0002094 Panting NOT_TRANSLATED -HP:0002094 Shortness of breath NOT_TRANSLATED -HP:0002094 Trouble breathing NOT_TRANSLATED -HP:0100399 Duplication of the distal phalanx of the fourth toe NOT_TRANSLATED -HP:0100399 Duplication of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0100399 Partial/complete duplication of the distal phalanx of the 4th toe NOT_TRANSLATED -HP:0100398 Duplication of the distal phalanx of the third toe NOT_TRANSLATED -HP:0100398 Duplication of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100398 Partial/complete duplication of the distal phalanx of the 3rd toe NOT_TRANSLATED -HP:0100401 Duplication of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0100401 Duplication of the middle phalanx of the third toe NOT_TRANSLATED -HP:0100401 Partial/complete duplication of the middle phalanx of the 3rd toe NOT_TRANSLATED -HP:0002097 Pulmonary emphysema NOT_TRANSLATED -HP:0100400 Duplication of the distal phalanx of the fifth toe NOT_TRANSLATED -HP:0100400 Duplication of the outermost bone of the fifth toe NOT_TRANSLATED -HP:0100400 Duplication of the outermost bone of the little toe NOT_TRANSLATED -HP:0100400 Duplication of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100400 Duplication of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0100400 Partial/complete duplication of the distal phalanx of the 5th toe NOT_TRANSLATED -HP:0002098 Breathing difficulties NOT_TRANSLATED -HP:0002098 Labored breathing NOT_TRANSLATED -HP:0002098 Respiratory difficulties NOT_TRANSLATED -HP:0100403 Duplication of the middle bone of the little toe NOT_TRANSLATED -HP:0100403 Duplication of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100403 Duplication of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100403 Duplication of the middle phalanx of the fifth toe NOT_TRANSLATED -HP:0100403 Partial/complete duplication of the middle phalanx of the 5th toe NOT_TRANSLATED -HP:0002099 Bronchial asthma NOT_TRANSLATED -HP:0002099 Reactive airway disease NOT_TRANSLATED -HP:0100402 Duplication of the middle bone of the 4th toe NOT_TRANSLATED -HP:0100402 Duplication of the middle phalanx of the fourth toe NOT_TRANSLATED -HP:0100402 Partial/complete duplication of the middle phalanx of the 4th toe NOT_TRANSLATED -HP:0002100 Recurrent pneumonia due to aspiration, NOT_TRANSLATED -HP:0100405 Duplication of the innermost 4th toe bone NOT_TRANSLATED -HP:0100405 Duplication of the proximal phalanx of the fourth toe NOT_TRANSLATED -HP:0100405 Partial/complete duplication of the proximal phalanx of the 4th toe NOT_TRANSLATED -HP:0002101 Defective lung lobation NOT_TRANSLATED -HP:0002101 Lung segmentation defects NOT_TRANSLATED -HP:0100404 Duplication of the innermost 3rd toe bone NOT_TRANSLATED -HP:0100404 Duplication of the proximal phalanx of the third toe NOT_TRANSLATED -HP:0100404 Partial/complete duplication of the proximal phalanx of the 3rd toe NOT_TRANSLATED -HP:0002102 Inflammation of tissues lining lungs and chest NOT_TRANSLATED -HP:0002102 Pleurisy NOT_TRANSLATED -HP:0100407 Complete duplication of the distal phalanx of the third toe NOT_TRANSLATED -HP:0100407 Complete duplication of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0002103 Abnormality of the pleura NOT_TRANSLATED -HP:0100406 Duplication of the innermost bone of the little toe NOT_TRANSLATED -HP:0100406 Duplication of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100406 Duplication of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0100406 Duplication of the proximal phalanx of the fifth toe NOT_TRANSLATED -HP:0100406 Partial/complete duplication of the proximal phalanx of the 5th toe NOT_TRANSLATED -HP:0002104 Absence of spontaneous respiration NOT_TRANSLATED -HP:0002104 Apneic episodes NOT_TRANSLATED -HP:0002104 Apnoea NOT_TRANSLATED -HP:0100409 Complete duplication of the distal phalanx of the fifth toe NOT_TRANSLATED -HP:0100409 Complete duplication of the outermost bone of the little toe NOT_TRANSLATED -HP:0100409 Complete duplication of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100409 Complete duplication of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0002105 Coughing up blood NOT_TRANSLATED -HP:0002105 Coughing up blood or blood-stained mucus NOT_TRANSLATED -HP:0002105 Haemoptysis NOT_TRANSLATED -HP:0100408 Complete duplication of the distal phalanx of the fourth toe NOT_TRANSLATED -HP:0100408 Complete duplication of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0100411 Complete duplication of the middle bone of the 4th toe NOT_TRANSLATED -HP:0100411 Complete duplication of the middle phalanx of the fourth toe NOT_TRANSLATED -HP:0002107 Collapsed lung NOT_TRANSLATED -HP:0100410 Complete duplication of the middle bone of the 3rd toe NOT_TRANSLATED -HP:0100410 Complete duplication of the middle phalanx of the third toe NOT_TRANSLATED -HP:0002108 Spontaneous collapsed lung NOT_TRANSLATED -HP:0100413 Complete duplication of the innermost 3rd toe bone NOT_TRANSLATED -HP:0100412 Complete duplication of the middle bone of the little toe NOT_TRANSLATED -HP:0100412 Complete duplication of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100412 Complete duplication of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100412 Complete duplication of the middle phalanx of the fifth toe NOT_TRANSLATED -HP:0002110 Permanent enlargement of the airways of the lungs NOT_TRANSLATED -HP:0100415 Complete duplication of the innermost bone of the little toe NOT_TRANSLATED -HP:0100415 Complete duplication of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100415 Complete duplication of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0100415 Complete duplication of the proximal phalanx of the fifth toe NOT_TRANSLATED -HP:0100414 Complete duplication of the innermost 4th toe bone NOT_TRANSLATED -HP:0100417 Partial duplication of the distal phalanx of the fourth toe NOT_TRANSLATED -HP:0100417 Partial duplication of the outermost bone of the fourth toe NOT_TRANSLATED -HP:0002113 Lung infiltrates NOT_TRANSLATED -HP:0002113 Pulmonic infiltration NOT_TRANSLATED -HP:0100416 Partial duplication of the distal phalanx of the third toe NOT_TRANSLATED -HP:0100416 Partial duplication of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100419 Partial duplication of the middle bone of 3rd toe NOT_TRANSLATED -HP:0100419 Partial duplication of the middle phalanx of the third toe NOT_TRANSLATED -HP:0100418 Partial duplication of the distal phalanx of the fifth toe NOT_TRANSLATED -HP:0100418 Partial duplication of the outermost bone of the fifth toe NOT_TRANSLATED -HP:0100418 Partial duplication of the outermost bone of the little toe NOT_TRANSLATED -HP:0100418 Partial duplication of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100418 Partial duplication of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0100421 Partial duplication of the middle bone of the little toe NOT_TRANSLATED -HP:0100421 Partial duplication of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100421 Partial duplication of the middle bone of the pinky toe NOT_TRANSLATED -HP:0100421 Partial duplication of the middle phalanx of the fifth toe NOT_TRANSLATED -HP:0100420 Partial duplication of the middle bone of the 4th toe NOT_TRANSLATED -HP:0100420 Partial duplication of the middle phalanx of the fourth toe NOT_TRANSLATED -HP:0002118 Abnormality of the cerebral ventricles NOT_TRANSLATED -HP:0100423 Partial duplication of the innermost bone of 4th toe NOT_TRANSLATED -HP:0002119 Cerebral ventricular dilatation NOT_TRANSLATED -HP:0002119 Dilated cerebral ventricle NOT_TRANSLATED -HP:0002119 Dilated cerebral ventricles NOT_TRANSLATED -HP:0002119 Dilated ventricles NOT_TRANSLATED -HP:0002119 Enlarged cerebral ventricles NOT_TRANSLATED -HP:0002119 Enlarged ventricles NOT_TRANSLATED -HP:0002119 Enlarged ventricular system NOT_TRANSLATED -HP:0002119 Large cerebral ventricles and cisternae NOT_TRANSLATED -HP:0002119 Ventricular dilatation NOT_TRANSLATED -HP:0100422 Partial duplication of the innermost bone of 3rd toe NOT_TRANSLATED -HP:0100422 Partial duplication of the proximal phalanx of the third toe NOT_TRANSLATED -HP:0002120 Cerebral cortex atrophy NOT_TRANSLATED -HP:0002120 Cortical atrophy NOT_TRANSLATED -HP:0002120 Decrease in size of the outer layer of the brain due to loss of brain cells NOT_TRANSLATED -HP:0100425 Broad middle 3rd toe bone NOT_TRANSLATED -HP:0002121 Absence seizure NOT_TRANSLATED -HP:0002121 Absence seizures NOT_TRANSLATED -HP:0002121 Brief seizures with staring spells NOT_TRANSLATED -HP:0002121 Generalised non-motor (absence) seizure NOT_TRANSLATED -HP:0002121 Generalised non-motor seizure NOT_TRANSLATED -HP:0002121 Petit mal NOT_TRANSLATED -HP:0002121 Petit mal seizure NOT_TRANSLATED -HP:0002121 Petit mal seizures NOT_TRANSLATED -HP:0100424 Partial duplication of the innermost bone of the little toe NOT_TRANSLATED -HP:0100424 Partial duplication of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100424 Partial duplication of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0100424 Partial duplication of the proximal phalanx of the fifth toe NOT_TRANSLATED -HP:0100427 Broad middle bone of the little toe NOT_TRANSLATED -HP:0100427 Broad middle bone of the pinkie toe NOT_TRANSLATED -HP:0100427 Broad middle bone of the pinky toe NOT_TRANSLATED -HP:0002123 Generalised epileptic myoclonus NOT_TRANSLATED -HP:0002123 Generalised myoclonic seizure NOT_TRANSLATED -HP:0002123 Generalised myoclonic seizures NOT_TRANSLATED -HP:0002123 Generalized epileptic myoclonus NOT_TRANSLATED -HP:0002123 Generalized myoclonic seizures NOT_TRANSLATED -HP:0002123 Myoclonic epilepsy, progressive NOT_TRANSLATED -HP:0002123 Myoclonus seizures NOT_TRANSLATED -HP:0100426 Broad middle 4th toe bone NOT_TRANSLATED -HP:0100429 Wide innermost bone of 4th toe NOT_TRANSLATED -HP:0100428 Wide innermost bone of 3rd toe NOT_TRANSLATED -HP:0002126 More grooves in brain NOT_TRANSLATED -HP:0100431 Broad outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100431 Wide outermost bone of the 3rd toe NOT_TRANSLATED -HP:0002127 Abnormal shape of upper motor neuron NOT_TRANSLATED -HP:0100430 Broad innermost bone of the little toe NOT_TRANSLATED -HP:0100430 Broad innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100430 Broad innermost bone of the pinky toe NOT_TRANSLATED -HP:0100433 Broad outermost bone of the 5th toe NOT_TRANSLATED -HP:0100433 Wide outermost bone of the little toe NOT_TRANSLATED -HP:0100433 Wide outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100433 Wide outermost bone of the pinky toe NOT_TRANSLATED -HP:0100432 Broad outermost bone of the 4th toe NOT_TRANSLATED -HP:0100432 Wide outermost bone of the 4th toe NOT_TRANSLATED -HP:0100435 Bullet-shaped middle bone of the 4th toe NOT_TRANSLATED -HP:0002131 Intermittent cerebellar ataxia NOT_TRANSLATED -HP:0002131 Paroxysmal ataxia NOT_TRANSLATED -HP:0100434 Bullet-shaped middle bone of the 3rd toe NOT_TRANSLATED -HP:0002132 Cavity within brain NOT_TRANSLATED -HP:0100437 Bullet-shaped proximal bone of the 3rd toe NOT_TRANSLATED -HP:0002133 Prolonged seizure NOT_TRANSLATED -HP:0002133 Repeated seizure without recovery NOT_TRANSLATED -HP:0002133 Repeated seizures without recovery between them NOT_TRANSLATED -HP:0100436 Bullet-shaped middle bone of the little toe NOT_TRANSLATED -HP:0100436 Bullet-shaped middle bone of the pinkie toe NOT_TRANSLATED -HP:0100436 Bullet-shaped middle bone of the pinky toe NOT_TRANSLATED -HP:0002134 Abnormality of the basal ganglia NOT_TRANSLATED -HP:0002134 Anomaly of the basal ganglia NOT_TRANSLATED -HP:0002134 Basal ganglia disease NOT_TRANSLATED -HP:0100439 Bullet-shaped innermost bone of little toe NOT_TRANSLATED -HP:0100439 Bullet-shaped innermost bone of pinkie toe NOT_TRANSLATED -HP:0100439 Bullet-shaped innermost bone of pinky toe NOT_TRANSLATED -HP:0002135 Basal ganglia calcifications NOT_TRANSLATED -HP:0002135 Basal ganglion calcification NOT_TRANSLATED -HP:0002135 Calcification of the basal ganglia NOT_TRANSLATED -HP:0100438 Bullet-shaped proximal bone of the 4th toe NOT_TRANSLATED -HP:0002136 Broad based gait NOT_TRANSLATED -HP:0002136 Wide based gait NOT_TRANSLATED -HP:0002136 Wide based walk NOT_TRANSLATED -HP:0002136 Wide-based gait NOT_TRANSLATED -HP:0100441 Bullet-shaped outermost bone of the 4th toe NOT_TRANSLATED -HP:0100440 Bullet-shaped outermost bone of the 3rd toe NOT_TRANSLATED -HP:0002138 Subarachnoid haemorrhage NOT_TRANSLATED -HP:0100443 Curved middle bone of 3rd toe NOT_TRANSLATED -HP:0100442 Bullet-shaped outermost bone of the little toe NOT_TRANSLATED -HP:0100442 Bullet-shaped outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100442 Bullet-shaped outermost bone of the pinky toe NOT_TRANSLATED -HP:0002140 Ischaemic stroke NOT_TRANSLATED -HP:0100445 Curved middle bone of little toe NOT_TRANSLATED -HP:0100445 Curved middle bone of pinkie toe NOT_TRANSLATED -HP:0100445 Curved middle bone of pinky toe NOT_TRANSLATED -HP:0002141 Abnormality of balance NOT_TRANSLATED -HP:0002141 Abnormality of equilibrium NOT_TRANSLATED -HP:0002141 Imbalanced walk NOT_TRANSLATED -HP:0100444 Curved middle bone of 4th toe NOT_TRANSLATED -HP:0100447 Curved innermost bone of the 4th toe NOT_TRANSLATED -HP:0002143 Spinal cord disease NOT_TRANSLATED -HP:0002143 Spinal cord pathology NOT_TRANSLATED -HP:0100446 Curved innermost bone of 3rd toe NOT_TRANSLATED -HP:0002144 Occult spinal dysraphism NOT_TRANSLATED -HP:0100449 Curved outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100448 Curved innermost little toe bone NOT_TRANSLATED -HP:0100448 Curved innermost pinkie toe bone NOT_TRANSLATED -HP:0100448 Curved innermost pinky toe bone NOT_TRANSLATED -HP:0100451 Curved outermost bone of the little toe NOT_TRANSLATED -HP:0100451 Curved outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100451 Curved outermost bone of the pinky toe NOT_TRANSLATED -HP:0100450 Curved outermost bone of the 4th toe NOT_TRANSLATED -HP:0002148 Hypophosphataemia NOT_TRANSLATED -HP:0002148 Low blood phosphate level NOT_TRANSLATED -HP:0002149 High blood uric acid level NOT_TRANSLATED -HP:0002149 Hyperuricaemia NOT_TRANSLATED -HP:0002150 Elevated urine calcium levels NOT_TRANSLATED -HP:0002150 Hypercalcinuria NOT_TRANSLATED -HP:0002151 Higher than normal levels of lactate in blood NOT_TRANSLATED -HP:0002151 Increased blood lactate NOT_TRANSLATED -HP:0002153 Elevated serum potassium levels NOT_TRANSLATED -HP:0002154 Elevated blood glycine levels NOT_TRANSLATED -HP:0002154 Hyperglycinaemia NOT_TRANSLATED -HP:0100459 Osteolytic defects of the outermost bone of the 4th toe NOT_TRANSLATED -HP:0002155 Increased circulating Tg levels NOT_TRANSLATED -HP:0002155 Increased plasma Tg levels NOT_TRANSLATED -HP:0002155 Increased plasma triglycerides NOT_TRANSLATED -HP:0002155 Increased serum triglycerides NOT_TRANSLATED -HP:0002155 Increased triglycerides NOT_TRANSLATED -HP:0100458 Osteolytic defects of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0002156 High urine homocystine levels NOT_TRANSLATED -HP:0100461 Uneven increase in bone density in the middle bone of the 3rd toe NOT_TRANSLATED -HP:0002157 Azotaemia NOT_TRANSLATED -HP:0100460 Osteolytic defects of the outermost bone of the 5th toe NOT_TRANSLATED -HP:0100463 Uneven increase in bone density in the middle bone of the little toe NOT_TRANSLATED -HP:0100463 Uneven increase in bone density in the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100463 Uneven increase in bone density in the middle bone of the pinky toe NOT_TRANSLATED -HP:0002159 Heparan sulphate excretion in urine NOT_TRANSLATED -HP:0100462 Uneven increase in bone density in middle bone of the 4th toe NOT_TRANSLATED -HP:0002160 Elevated blood homocystine NOT_TRANSLATED -HP:0002160 Homocystinemia NOT_TRANSLATED -HP:0100465 Uneven increase in bone density in the innermost bone of the 4th toe NOT_TRANSLATED -HP:0002161 Elevated blood lysine NOT_TRANSLATED -HP:0100464 Uneven increase in bone density in the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0002162 Low hairline at back of neck NOT_TRANSLATED -HP:0002162 Low posterior hair line NOT_TRANSLATED -HP:0100467 Uneven increase in bone density in the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100466 Uneven increase in bone density in the innermost bone of the little toe NOT_TRANSLATED -HP:0100466 Uneven increase in bone density in the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100466 Uneven increase in bone density in the innermost bone of the pinky toe NOT_TRANSLATED -HP:0002164 Atypical nail growth NOT_TRANSLATED -HP:0002164 Dysplastic nails NOT_TRANSLATED -HP:0002164 Onychodysplasia NOT_TRANSLATED -HP:0100469 Uneven increase in bone density in the outermost little toe bone NOT_TRANSLATED -HP:0100469 Uneven increase in bone density in the outermost pinkie toe bone NOT_TRANSLATED -HP:0100469 Uneven increase in bone density in the outermost pinky toe bone NOT_TRANSLATED -HP:0002165 Nail pterygium NOT_TRANSLATED -HP:0100468 Uneven increase in bone density in the outermost bone of the 4th toe NOT_TRANSLATED -HP:0002166 Decreased lower limb vibratory sense NOT_TRANSLATED -HP:0002166 Decreased vibratory sense in lower limbs NOT_TRANSLATED -HP:0002166 Decreased vibratory sense in the lower extremities NOT_TRANSLATED -HP:0002166 Decreased vibratory sense in the lower limbs NOT_TRANSLATED -HP:0002166 Diminished vibratory sensation in the legs NOT_TRANSLATED -HP:0002166 Distal sensory loss, especially vibratory sense NOT_TRANSLATED -HP:0002166 Distal vibratory impairment of the lower limbs NOT_TRANSLATED -HP:0100471 Fused middle bones of 4th toe NOT_TRANSLATED -HP:0002167 Speech disorder NOT_TRANSLATED -HP:0002167 Speech impairment NOT_TRANSLATED -HP:0002167 Speech impediment NOT_TRANSLATED -HP:0100470 Fused middle bones of 3rd toe NOT_TRANSLATED -HP:0002168 Explosive speech NOT_TRANSLATED -HP:0100473 Fused innermost bone of 3rd toe NOT_TRANSLATED -HP:0002169 Involuntary rhythmic muscular contractions and relaxations NOT_TRANSLATED -HP:0100472 Fused middle bones of 5th toe NOT_TRANSLATED -HP:0002170 Bleeding within the skull NOT_TRANSLATED -HP:0002170 Intracranial haemorrhage NOT_TRANSLATED -HP:0100475 Fused innermost bone of little toe NOT_TRANSLATED -HP:0100475 Fused innermost bone of pinkie toe NOT_TRANSLATED -HP:0100475 Fused innermost bone of pinky toe NOT_TRANSLATED -HP:0002171 Cerebral gliosis NOT_TRANSLATED -HP:0002171 Excess astrocytes in brain NOT_TRANSLATED -HP:0100474 Fused innermost bones of 4th toe NOT_TRANSLATED -HP:0002172 Abnormal retropulsion test NOT_TRANSLATED -HP:0002172 Balance impairment NOT_TRANSLATED -HP:0002172 Imbalance NOT_TRANSLATED -HP:0100477 Fused outermost bone of the 4th toe NOT_TRANSLATED -HP:0100476 Fused outermost bone of 3rd toe NOT_TRANSLATED -HP:0002174 Tremor, postural NOT_TRANSLATED -HP:0100478 Fused outermost bones of the little toe NOT_TRANSLATED -HP:0100478 Fused outermost bones of the pinkie toe NOT_TRANSLATED -HP:0100478 Fused outermost bones of the pinky toe NOT_TRANSLATED -HP:0002176 Pressure on spinal cord NOT_TRANSLATED -HP:0100481 Fused innermost and middle bones of 4th toe NOT_TRANSLATED -HP:0100481 Symphalangism of the middle and proximal phalanges of the 4th toe NOT_TRANSLATED -HP:0100480 Fused innermost and middle bones of 3rd toe NOT_TRANSLATED -HP:0100480 Symphalangism of the middle and proximal phalanges of the 3rd toe NOT_TRANSLATED -HP:0100483 Fused innermost bone of 2nd toe with the 2nd long bone of foot NOT_TRANSLATED -HP:0002179 Opisthotonos NOT_TRANSLATED -HP:0100482 Fused innermost and middle little toe bones NOT_TRANSLATED -HP:0100482 Fused innermost and middle pinkie toe bones NOT_TRANSLATED -HP:0100482 Fused innermost and middle pinky toe bones NOT_TRANSLATED -HP:0100482 Symphalangism of the middle and proximal phalanges of the 5th toe NOT_TRANSLATED -HP:0002180 Neuro-degenerative disease NOT_TRANSLATED -HP:0002180 Neurodegenerative disease NOT_TRANSLATED -HP:0002180 Ongoing loss of nerve cells NOT_TRANSLATED -HP:0002180 Progressive neurodegenerative disorder NOT_TRANSLATED -HP:0100485 Fused innermost bone of the 4th toe with 4th long bone of foot NOT_TRANSLATED -HP:0002181 Brain edema NOT_TRANSLATED -HP:0002181 Brain oedema NOT_TRANSLATED -HP:0002181 Brain swelling NOT_TRANSLATED -HP:0002181 Cerebral oedema NOT_TRANSLATED -HP:0002181 Swelling of brain NOT_TRANSLATED -HP:0100484 Fused innermost bones of third toe with 3rd long bone of foot NOT_TRANSLATED -HP:0100487 Triangular shaped outermost bone of the little toe NOT_TRANSLATED -HP:0100487 Triangular shaped outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100487 Triangular shaped outermost bone of the pinky toe NOT_TRANSLATED -HP:0002183 Fear of loud sounds NOT_TRANSLATED -HP:0100486 Fused innermost pinky toe bone with the 5th long bone of foot NOT_TRANSLATED -HP:0100489 Fused middle and innermost bones of 2nd toe NOT_TRANSLATED -HP:0100489 Symphalangism of the middle and proximal phalanges of the 2nd toe NOT_TRANSLATED -HP:0002185 Neurofibrillary tangles composed of disordered microtubules in neurons NOT_TRANSLATED -HP:0002185 Paired helical filaments NOT_TRANSLATED -HP:0100488 Fusion of the innermost big toe bone with the 1st long bone of foot NOT_TRANSLATED -HP:0002186 Apraxias NOT_TRANSLATED -HP:0100491 Abnormality of the joints of the lower limbs NOT_TRANSLATED -HP:0002187 Mentale retardatie, zeer ernstig CANDIDATE -HP:0002187 Zeer ernstige verstandelijke beperking CANDIDATE -HP:0100490 Camptodactyly of hands NOT_TRANSLATED -HP:0100490 Camptodactyly of proximal interphalangeal joint NOT_TRANSLATED -HP:0100490 Contractures of the proximal interphalangeal joints of the fingers NOT_TRANSLATED -HP:0100490 Flexion contractures of proximal interphalangeal joints NOT_TRANSLATED -HP:0100490 Permanent flexion of the finger NOT_TRANSLATED -HP:0100490 Proximal interphalangeal finger joint contractures NOT_TRANSLATED -HP:0002188 Delay in central nervous system myelination NOT_TRANSLATED -HP:0002191 Spasticity, progressive NOT_TRANSLATED -HP:0100494 Abnormality of mast cells NOT_TRANSLATED -HP:0100494 Abnormality of mastocytes NOT_TRANSLATED -HP:0002193 Pseudobulbar behavioural symptoms NOT_TRANSLATED -HP:0002194 Delayed gross motor skills NOT_TRANSLATED -HP:0002194 Delayed motor skills NOT_TRANSLATED -HP:0002194 Developmental delay, gross motor NOT_TRANSLATED -HP:0002194 Gross motor delay NOT_TRANSLATED -HP:0002194 Limited gross motor development NOT_TRANSLATED -HP:0100499 Medial deviation of toes NOT_TRANSLATED -HP:0002197 Generalised onset seizure NOT_TRANSLATED -HP:0002197 Generalised seizures NOT_TRANSLATED -HP:0002197 Generalised-onset seizure NOT_TRANSLATED -HP:0002197 Generalized onset seizure NOT_TRANSLATED -HP:0002197 Generalized seizures NOT_TRANSLATED -HP:0002197 Generalized-onset seizures NOT_TRANSLATED -HP:0002197 Primary generalised seizure NOT_TRANSLATED -HP:0002197 Primary generalized seizure NOT_TRANSLATED -HP:0100500 Lateral deviation of toes NOT_TRANSLATED -HP:0002198 Enlarged fourth ventricle NOT_TRANSLATED -HP:0100503 Reduced blood thiamine level NOT_TRANSLATED -HP:0100503 Vitamin B1 deficiency NOT_TRANSLATED -HP:0002199 Low calcium seizures NOT_TRANSLATED -HP:0002199 Seizures due to hypocalcemia NOT_TRANSLATED -HP:0002200 Pseudobulbar symptoms NOT_TRANSLATED -HP:0100505 Vitamin B5 deficiency NOT_TRANSLATED -HP:0100504 Riboflavin deficiency NOT_TRANSLATED -HP:0100504 Vitamin B2 deficiency NOT_TRANSLATED -HP:0002202 Fluid around lungs NOT_TRANSLATED -HP:0100507 Folate deficiency NOT_TRANSLATED -HP:0100507 Vitamin B9 deficiency NOT_TRANSLATED -HP:0100506 Vitamin B8 deficiency NOT_TRANSLATED -HP:0002204 Blood clot in artery of lung NOT_TRANSLATED -HP:0002205 Frequent respiratory infections NOT_TRANSLATED -HP:0002205 Multiple respiratory infections NOT_TRANSLATED -HP:0002205 respiratory infections, recurrent NOT_TRANSLATED -HP:0002205 Susceptibility to respiratory infections NOT_TRANSLATED -HP:0100510 Vitamin C deficiency NOT_TRANSLATED -HP:0002208 Coarse hair texture NOT_TRANSLATED -HP:0002208 Rough hair texture NOT_TRANSLATED -HP:0100513 Alpha-tocopherol deficiency NOT_TRANSLATED -HP:0100513 Vitamin E deficiency NOT_TRANSLATED -HP:0002209 Decreased number of scalp follicles NOT_TRANSLATED -HP:0002209 Hypotrichosis on scalp NOT_TRANSLATED -HP:0002209 Reduced amount of scalp hair NOT_TRANSLATED -HP:0002209 Reduced/lack of hair on scalp NOT_TRANSLATED -HP:0002209 Reduction in the number of scalp follicles NOT_TRANSLATED -HP:0002209 Scalp hypotrichosis NOT_TRANSLATED -HP:0002209 Thin scalp hair NOT_TRANSLATED -HP:0002209 Thinning scalp hair NOT_TRANSLATED -HP:0100512 Deficient in vitamin D NOT_TRANSLATED -HP:0100512 Vitamin D deficiency NOT_TRANSLATED -HP:0100515 Constant urination NOT_TRANSLATED -HP:0100515 Frequent urination NOT_TRANSLATED -HP:0002211 Poliosis of anterior hair NOT_TRANSLATED -HP:0002211 Poliosis of forelock hair NOT_TRANSLATED -HP:0002211 White part of hair above forehead NOT_TRANSLATED -HP:0100517 Neoplasia of the urethra NOT_TRANSLATED -HP:0002213 Fine hair shaft NOT_TRANSLATED -HP:0002213 Fine hair texture NOT_TRANSLATED -HP:0002213 Thin hair NOT_TRANSLATED -HP:0002213 Thin hair shaft NOT_TRANSLATED -HP:0002213 Thin hair texture NOT_TRANSLATED -HP:0002213 Thinned hair NOT_TRANSLATED -HP:0100516 Neoplasia of the ureters NOT_TRANSLATED -HP:0100516 ureter, cancer of NOT_TRANSLATED -HP:0100519 Absent urine output NOT_TRANSLATED -HP:0002215 Limited armpit hair NOT_TRANSLATED -HP:0002215 Little underarm hair NOT_TRANSLATED -HP:0002215 Sparse axillary and pubic hair NOT_TRANSLATED -HP:0002215 Sparse scalp, axillary, and pubic hair NOT_TRANSLATED -HP:0002215 sparse to absent axillary hair NOT_TRANSLATED -HP:0100518 Dull burning sensation with urination NOT_TRANSLATED -HP:0100518 Painful or difficult urination NOT_TRANSLATED -HP:0002216 Early graying NOT_TRANSLATED -HP:0002216 Early greying NOT_TRANSLATED -HP:0002216 Premature graying NOT_TRANSLATED -HP:0002216 Premature graying of the hair NOT_TRANSLATED -HP:0002216 Premature greying NOT_TRANSLATED -HP:0002216 Premature greying of hair NOT_TRANSLATED -HP:0002216 Premature greying of the hair NOT_TRANSLATED -HP:0002216 Premature hair graying NOT_TRANSLATED -HP:0002216 Premature hair greying NOT_TRANSLATED -HP:0002217 Slow growing hair NOT_TRANSLATED -HP:0002217 Slow rate of hair growth NOT_TRANSLATED -HP:0002217 Slow speed of hair growth NOT_TRANSLATED -HP:0002218 Silver-gray hair color NOT_TRANSLATED -HP:0002218 Silver-gray hair colour NOT_TRANSLATED -HP:0002218 Silvery-gray hair NOT_TRANSLATED -HP:0100523 Hepatic abscess NOT_TRANSLATED -HP:0002219 Increased facial hair growth NOT_TRANSLATED -HP:0100524 Dimelia NOT_TRANSLATED -HP:0002223 Absent eyebrows NOT_TRANSLATED -HP:0002223 Agenesis of eyebrows NOT_TRANSLATED -HP:0002223 Aplasia of eyebrows NOT_TRANSLATED -HP:0002223 Failure of development of eyebrows NOT_TRANSLATED -HP:0002223 Loss of eyebrows NOT_TRANSLATED -HP:0002223 Missing eyebrows NOT_TRANSLATED -HP:0100526 Lung cancer NOT_TRANSLATED -HP:0100526 Lung tumor NOT_TRANSLATED -HP:0100526 Lung tumour NOT_TRANSLATED -HP:0002224 Afro-textured hair NOT_TRANSLATED -HP:0002224 Kinked hair NOT_TRANSLATED -HP:0002224 Kinky hair texture NOT_TRANSLATED -HP:0002224 Nappy hair texture NOT_TRANSLATED -HP:0002224 Wooly hair NOT_TRANSLATED -HP:0100529 Abnormality of phosphate homeostasis NOT_TRANSLATED -HP:0002225 Decreased sexual hair NOT_TRANSLATED -HP:0002225 sparse to absent pubic hair NOT_TRANSLATED -HP:0002226 Blonde eyebrow NOT_TRANSLATED -HP:0002226 Depigmented eyebrow NOT_TRANSLATED -HP:0002226 Grey eyebrow NOT_TRANSLATED -HP:0002226 Hypopigmented eyebrow NOT_TRANSLATED -HP:0002226 Pale eyebrow NOT_TRANSLATED -HP:0002227 Blonde eyelashes NOT_TRANSLATED -HP:0002227 Depigmented eyelashes NOT_TRANSLATED -HP:0002227 Grey eyelashes NOT_TRANSLATED -HP:0002227 Pale eyelashes NOT_TRANSLATED -HP:0100530 Abnormal Ca-PHOS regulating hormone level NOT_TRANSLATED -HP:0100530 Abnormal Ca2+ PO4 regulating hormone level NOT_TRANSLATED -HP:0100533 Ocular inflammation NOT_TRANSLATED -HP:0100532 Inflammation of the outer white part of the eye NOT_TRANSLATED -HP:0002230 Excessive hairiness over body NOT_TRANSLATED -HP:0002230 Generalised hirsutism NOT_TRANSLATED -HP:0002231 Limited body hair NOT_TRANSLATED -HP:0002231 Little body hair NOT_TRANSLATED -HP:0002231 Sparse to absent body hair NOT_TRANSLATED -HP:0100534 Inflammation of the thin layer on top of the white part of eye NOT_TRANSLATED -HP:0002232 Alopecia areata NOT_TRANSLATED -HP:0002232 Patchy baldness NOT_TRANSLATED -HP:0100537 Inflammation of the fascia NOT_TRANSLATED -HP:0100539 Periorbital cellulitis NOT_TRANSLATED -HP:0100539 Periorbital oedema NOT_TRANSLATED -HP:0100538 Abnormality of the brow of the face NOT_TRANSLATED -HP:0100538 Deformity of the supraorbital margins NOT_TRANSLATED -HP:0100538 Deformity of the supraorbital ridges NOT_TRANSLATED -HP:0100538 Malformation of the supraorbital margins NOT_TRANSLATED -HP:0100538 Malformation of the supraorbital ridges NOT_TRANSLATED -HP:0002236 Cowlick NOT_TRANSLATED -HP:0002236 Frontal Cowlick NOT_TRANSLATED -HP:0002236 Upswept frontal hair NOT_TRANSLATED -HP:0002236 Upswept frontal hair pattern NOT_TRANSLATED -HP:0002236 Upswept frontal hairline NOT_TRANSLATED -HP:0100541 Crural hernia NOT_TRANSLATED -HP:0100540 Edema of the eyelids NOT_TRANSLATED -HP:0100540 Eyelid edema NOT_TRANSLATED -HP:0100540 Eyelid oedema NOT_TRANSLATED -HP:0100540 Fullness of eyelids NOT_TRANSLATED -HP:0100540 Oedema of the eyelids NOT_TRANSLATED -HP:0100540 Palpebral oedema NOT_TRANSLATED -HP:0100540 Puffy eyelids NOT_TRANSLATED -HP:0100540 Puffy lids NOT_TRANSLATED -HP:0100540 Swelling of eyelids NOT_TRANSLATED -HP:0100543 Abnormality of cognition NOT_TRANSLATED -HP:0100543 Cognitive abnormality NOT_TRANSLATED -HP:0100543 Cognitive defects NOT_TRANSLATED -HP:0100543 Cognitive deficits NOT_TRANSLATED -HP:0100543 Intellectual impairment NOT_TRANSLATED -HP:0002239 Gastrointestinal bleeding NOT_TRANSLATED -HP:0002239 Gastrointestinal haemorrhage NOT_TRANSLATED -HP:0002239 GI haemorrhage NOT_TRANSLATED -HP:0002239 GI hemorrhage NOT_TRANSLATED -HP:0100542 Abnormal localisation of kidneys NOT_TRANSLATED -HP:0002240 Enlarged liver NOT_TRANSLATED -HP:0100545 Narrowing of an artery NOT_TRANSLATED -HP:0100544 Cardiac neoplasia NOT_TRANSLATED -HP:0100544 Cardiac neoplasm NOT_TRANSLATED -HP:0100544 Heart tumor NOT_TRANSLATED -HP:0100544 Heart tumour NOT_TRANSLATED -HP:0002242 Abnormality of the intestine NOT_TRANSLATED -HP:0002242 Enteropathy NOT_TRANSLATED -HP:0100547 Abnormal shape of forebrain NOT_TRANSLATED -HP:0100547 Abnormality of forebrain morphology NOT_TRANSLATED -HP:0100547 Abnormality of the forebrain NOT_TRANSLATED -HP:0100546 Carotid stenosis NOT_TRANSLATED -HP:0100546 Narrowing of carotid artery NOT_TRANSLATED -HP:0002246 Abnormality of the duodenum NOT_TRANSLATED -HP:0100551 Tracheal neoplasm NOT_TRANSLATED -HP:0002247 Absence or narrowing of first part of small bowel NOT_TRANSLATED -HP:0100550 Rupture of tendons NOT_TRANSLATED -HP:0100550 Ruptured tendon NOT_TRANSLATED -HP:0100550 Tendon/muscle rupture NOT_TRANSLATED -HP:0002248 Vomitting blood NOT_TRANSLATED -HP:0100553 Overgrowth of one leg NOT_TRANSLATED -HP:0002249 Black faeces NOT_TRANSLATED -HP:0002249 Black feces NOT_TRANSLATED -HP:0002250 Abnormality of the large intestine NOT_TRANSLATED -HP:0100555 Uneven or disproportionate growth of one body part compared to another NOT_TRANSLATED -HP:0002251 Congenital megacolon NOT_TRANSLATED -HP:0002251 Enlarged colon lacking nerve cells NOT_TRANSLATED -HP:0002251 Hirschsprung disease NOT_TRANSLATED -HP:0002251 Hirschsprung megacolon NOT_TRANSLATED -HP:0002251 Megacolon NOT_TRANSLATED -HP:0100554 Overgrowth of one arm NOT_TRANSLATED -HP:0100557 Asymmetric lower limb shortening NOT_TRANSLATED -HP:0002253 Colon diverticula NOT_TRANSLATED -HP:0002253 Colonic diverticulosis NOT_TRANSLATED -HP:0100556 Asymmetric limb shortening NOT_TRANSLATED -HP:0100556 Hemiatrophy of the body NOT_TRANSLATED -HP:0002254 Episodic diarrhea NOT_TRANSLATED -HP:0002254 Episodic diarrhoea NOT_TRANSLATED -HP:0002254 Intermittent diarrhoea NOT_TRANSLATED -HP:0100559 Left and right leg differ in length or width NOT_TRANSLATED -HP:0100559 Leg length discrepancy NOT_TRANSLATED -HP:0100558 Asymmetric upper limb shortening NOT_TRANSLATED -HP:0100558 Hemihypotrophy of upper limb NOT_TRANSLATED -HP:0100560 Unequal size of arms NOT_TRANSLATED -HP:0100562 Duplication of spinal cord NOT_TRANSLATED -HP:0100564 Triplication of spinal cord NOT_TRANSLATED -HP:0002263 Cupid bow upper lip NOT_TRANSLATED -HP:0002263 Cupid's bow, accentuated NOT_TRANSLATED -HP:0002263 Cupid-bow shaped upper lip NOT_TRANSLATED -HP:0002263 Prominent cupid-bow of upper lip NOT_TRANSLATED -HP:0100566 Absent spinal cord NOT_TRANSLATED -HP:0100569 Abnormal bone maturation of vertebra NOT_TRANSLATED -HP:0100569 Abnormal vertebral ossification NOT_TRANSLATED -HP:0100569 Abnormality of ossification/mineralisation of vertebrae NOT_TRANSLATED -HP:0100568 Endocrine neoplasia NOT_TRANSLATED -HP:0002266 Focal clonic seizures NOT_TRANSLATED -HP:0002266 Localised clonic seizure NOT_TRANSLATED -HP:0002266 Localized clonic seizure NOT_TRANSLATED -HP:0002266 Partial clonic seizure NOT_TRANSLATED -HP:0002266 Segmental clonic seizure NOT_TRANSLATED -HP:0100571 Ventricular diverticulum NOT_TRANSLATED -HP:0002267 Exaggerated acoustic startle response NOT_TRANSLATED -HP:0002267 Hyperekplexia NOT_TRANSLATED -HP:0002267 Increased startle response NOT_TRANSLATED -HP:0100570 Carcinoid NOT_TRANSLATED -HP:0100570 Carcinoid tumors NOT_TRANSLATED -HP:0100570 Carcinoid tumour NOT_TRANSLATED -HP:0100570 Carcinoid tumours NOT_TRANSLATED -HP:0002268 Episodic dystonia NOT_TRANSLATED -HP:0002269 Abnormal neuronal migration NOT_TRANSLATED -HP:0002269 Heterotopias/abnormal migration NOT_TRANSLATED -HP:0002269 Migrational brain disorder NOT_TRANSLATED -HP:0002269 Neuronal migration disorder NOT_TRANSLATED -HP:0100572 Congenital ventricular aneurysm NOT_TRANSLATED -HP:0100575 Neoplasia of the gallbladder NOT_TRANSLATED -HP:0100574 Neoplasia of the biliary tract NOT_TRANSLATED -HP:0100577 Cystitis of the urinary bladder NOT_TRANSLATED -HP:0002273 Quadriparesis NOT_TRANSLATED -HP:0100578 Atrophy of fat NOT_TRANSLATED -HP:0100578 Loss of fat tissue in localised area NOT_TRANSLATED -HP:0100578 Loss of fat tissue in localized area NOT_TRANSLATED -HP:0100581 Caliceal dilatation NOT_TRANSLATED -HP:0100581 Caliectasis NOT_TRANSLATED -HP:0100581 Megacalicosis NOT_TRANSLATED -HP:0002277 Horner's syndrome NOT_TRANSLATED -HP:0002277 Oculosympathetic palsy NOT_TRANSLATED -HP:0100580 Barret syndrome NOT_TRANSLATED -HP:0100580 Barrett oesophagus NOT_TRANSLATED -HP:0100580 Barrett's esophagus NOT_TRANSLATED -HP:0100580 Barrett's oesophagus NOT_TRANSLATED -HP:0100580 Endobrachyesophagus NOT_TRANSLATED -HP:0100583 Iridocele NOT_TRANSLATED -HP:0100582 Nasal polyps NOT_TRANSLATED -HP:0100582 Polyposis nasi NOT_TRANSLATED -HP:0100582 Polyps of nose NOT_TRANSLATED -HP:0002280 Large cisterna magna NOT_TRANSLATED -HP:0002280 Mega cisterna magna NOT_TRANSLATED -HP:0100585 Teleangiectasia of the skin NOT_TRANSLATED -HP:0002282 Gray matter heterotopias NOT_TRANSLATED -HP:0002282 Grey matter heterotopia NOT_TRANSLATED -HP:0002282 Grey matter heterotopias NOT_TRANSLATED -HP:0002282 Heterotopia NOT_TRANSLATED -HP:0002282 Heterotopias NOT_TRANSLATED -HP:0002282 Neuronal heterotopia NOT_TRANSLATED -HP:0100587 Abnormality of the preputium NOT_TRANSLATED -HP:0002283 Diffuse brain atrophy NOT_TRANSLATED -HP:0002283 Generalised brain atrophy NOT_TRANSLATED -HP:0002283 Generalised brain degeneration NOT_TRANSLATED -HP:0002283 Generalised cerebral atrophy NOT_TRANSLATED -HP:0002283 Generalized brain atrophy NOT_TRANSLATED -HP:0002283 Generalized brain degeneration NOT_TRANSLATED -HP:0002283 Generalized cerebral atrophy NOT_TRANSLATED -HP:0100586 Aseptic leukocyturia NOT_TRANSLATED -HP:0002286 Blond hair NOT_TRANSLATED -HP:0002286 Fair hair color NOT_TRANSLATED -HP:0002286 Fair hair colour NOT_TRANSLATED -HP:0002286 Flaxen hair color NOT_TRANSLATED -HP:0002286 Flaxen hair colour NOT_TRANSLATED -HP:0002286 Light colored hair NOT_TRANSLATED -HP:0002286 Light coloured hair NOT_TRANSLATED -HP:0002286 Sandy hair color NOT_TRANSLATED -HP:0002286 Sandy hair colour NOT_TRANSLATED -HP:0002286 Straw colored hair NOT_TRANSLATED -HP:0002286 Straw coloured hair NOT_TRANSLATED -HP:0002286 Towhead (hair color) NOT_TRANSLATED -HP:0002289 Alopecia, complete NOT_TRANSLATED -HP:0002289 Universal alopecia NOT_TRANSLATED -HP:0002290 Patch of white hair NOT_TRANSLATED -HP:0002290 White patch NOT_TRANSLATED -HP:0002292 Male pattern baldness NOT_TRANSLATED -HP:0002293 Absence of scalp hair NOT_TRANSLATED -HP:0002293 Baldness NOT_TRANSLATED -HP:0002293 Missing scalp hair NOT_TRANSLATED -HP:0002293 Pathologic hair loss from scalp NOT_TRANSLATED -HP:0002293 Scalp hair loss NOT_TRANSLATED -HP:0100596 Abouphalia NOT_TRANSLATED -HP:0100596 Aplasia of the nares NOT_TRANSLATED -HP:0100596 Aplasia/Hypoplasia of the nares NOT_TRANSLATED -HP:0100596 Missing nostrils NOT_TRANSLATED -HP:0100599 Diphallia NOT_TRANSLATED -HP:0100599 Penile duplication NOT_TRANSLATED -HP:0100598 Excess fluid in lungs NOT_TRANSLATED -HP:0100598 Lung edema NOT_TRANSLATED -HP:0100598 Lung oedema NOT_TRANSLATED -HP:0100598 Pulmonary oedema NOT_TRANSLATED -HP:0100598 Wet lung NOT_TRANSLATED -HP:0002297 Ginger hair color NOT_TRANSLATED -HP:0002297 Ginger hair colour NOT_TRANSLATED -HP:0002297 Red hair color NOT_TRANSLATED -HP:0002297 Red hair colour NOT_TRANSLATED -HP:0002297 Red head (hair color) NOT_TRANSLATED -HP:0100600 Prepenile scrotum NOT_TRANSLATED -HP:0100603 Hypertensive disorder of pregnancy NOT_TRANSLATED -HP:0100603 Toxaemia of pregnancy NOT_TRANSLATED -HP:0002299 Easily breakable hair NOT_TRANSLATED -HP:0002299 Fractured hair NOT_TRANSLATED -HP:0002299 Fragile hair NOT_TRANSLATED -HP:0002299 Reduced tensile strength of hair NOT_TRANSLATED -HP:0100602 Pre-eclampsia NOT_TRANSLATED -HP:0002300 Inability to speak NOT_TRANSLATED -HP:0002300 Muteness NOT_TRANSLATED -HP:0002301 Paralysis on one side of body NOT_TRANSLATED -HP:0100604 Lip tumor NOT_TRANSLATED -HP:0100604 Lip tumour NOT_TRANSLATED -HP:0100604 Neoplasia of the lip NOT_TRANSLATED -HP:0100604 Tumor of the lip NOT_TRANSLATED -HP:0100604 Tumour of the lip NOT_TRANSLATED -HP:0100607 Painful menstruation NOT_TRANSLATED -HP:0100606 Respiratory system tumor NOT_TRANSLATED -HP:0100606 Respiratory system tumour NOT_TRANSLATED -HP:0002305 Athetoid movements NOT_TRANSLATED -HP:0002305 Involuntary writhing movements NOT_TRANSLATED -HP:0002305 Involuntary writhing movements in fingers, hands, toes, and feet NOT_TRANSLATED -HP:0100608 Abnormal uterus bleeding NOT_TRANSLATED -HP:0100608 Intermenstrual bleeding NOT_TRANSLATED -HP:0100608 Menstrual spotting NOT_TRANSLATED -HP:0100611 Glomerulocystic kidney disease NOT_TRANSLATED -HP:0002307 Dribbling NOT_TRANSLATED -HP:0002307 Sialorrhea NOT_TRANSLATED -HP:0100610 High blood phenylalanine level in mother NOT_TRANSLATED -HP:4000062 Fused third and fourth metacarpals NOT_TRANSLATED -HP:4000062 Middle and ring finger metacarpal synostosis NOT_TRANSLATED -HP:4000062 Synostosis of third and the fourth metacarpal bones NOT_TRANSLATED -HP:0002308 Arnold-Chiari malformation NOT_TRANSLATED -HP:0100612 Odontogenic tumor NOT_TRANSLATED -HP:0100612 Odontogenic tumour NOT_TRANSLATED -HP:0002310 Orofacial dyskinesias NOT_TRANSLATED -HP:0100615 Neoplasm of the ovaries NOT_TRANSLATED -HP:0100615 Neoplasm of the ovary NOT_TRANSLATED -HP:0100615 Ovarian cancer NOT_TRANSLATED -HP:0100615 Ovarian neoplasia NOT_TRANSLATED -HP:0100615 Ovarian tumor NOT_TRANSLATED -HP:0100615 Ovarian tumour NOT_TRANSLATED -HP:4000059 Developmental pulmonary anomaly NOT_TRANSLATED -HP:0002311 Difficulties in coordination NOT_TRANSLATED -HP:0002311 Incoordination of limb movements NOT_TRANSLATED -HP:0002311 Limb incoordination NOT_TRANSLATED -HP:0100614 Muscle inflammation NOT_TRANSLATED -HP:0002314 Degeneration of lateral corticospinal tracts NOT_TRANSLATED -HP:0100619 Sertoli cell neoplasia NOT_TRANSLATED -HP:0002315 Headaches NOT_TRANSLATED -HP:0002317 Gait instability NOT_TRANSLATED -HP:0002317 Unsteady walk NOT_TRANSLATED -HP:0100623 Abnormality of corpus cavernosum NOT_TRANSLATED -HP:0100622 Maternal seizures NOT_TRANSLATED -HP:4000050 Compound fracture NOT_TRANSLATED -HP:0100625 Wide rib cage NOT_TRANSLATED -HP:0100625 Wide thorax NOT_TRANSLATED -HP:0002321 Dizziness NOT_TRANSLATED -HP:0002321 Dizzy spell NOT_TRANSLATED -HP:0002322 Parkinsonian tremor NOT_TRANSLATED -HP:0002322 Rest tremor NOT_TRANSLATED -HP:0002322 Tremor at rest NOT_TRANSLATED -HP:0100627 Displacement of the external urethral orifice NOT_TRANSLATED -HP:0100627 Displacement of the male external urethral orifice NOT_TRANSLATED -HP:4000047 Wedge fracture NOT_TRANSLATED -HP:0002323 Embryonic anencephaly NOT_TRANSLATED -HP:0002323 Fetal anencephaly NOT_TRANSLATED -HP:0002323 Foetal anencephaly NOT_TRANSLATED -HP:0100626 Chronic liver failure NOT_TRANSLATED -HP:0002324 Hydrancephaly NOT_TRANSLATED -HP:0100628 Esophageal pouch NOT_TRANSLATED -HP:0002326 Mini stroke NOT_TRANSLATED -HP:0002326 TIA NOT_TRANSLATED -HP:0002326 Transient ischaemic attack NOT_TRANSLATED -HP:0002326 Transient ischaemic attacks NOT_TRANSLATED -HP:0002326 Transient ischemic attacks NOT_TRANSLATED -HP:0100631 Adrenal neoplasia NOT_TRANSLATED -HP:4000043 Incomplete fracture NOT_TRANSLATED -HP:0100630 Nasopharyngeal neoplasm NOT_TRANSLATED -HP:0100630 Neoplasm of the nasopharynx NOT_TRANSLATED -HP:0100630 Tumor of the nasopharynx NOT_TRANSLATED -HP:0100630 Tumour of the nasopharynx NOT_TRANSLATED -HP:0100633 Inflammation of the esophagus NOT_TRANSLATED -HP:0100633 Inflammation of the oesophagus NOT_TRANSLATED -HP:0100633 Oesophagitis NOT_TRANSLATED -HP:0002329 Sleepy NOT_TRANSLATED -HP:0100632 Cystic lung lesion NOT_TRANSLATED -HP:0100634 Neuroendocrine neoplasia NOT_TRANSLATED -HP:0002333 Progressive degeneration of movement NOT_TRANSLATED -HP:0002334 Abnormality of the cerebellar vermis NOT_TRANSLATED -HP:0100639 Abnormal erection NOT_TRANSLATED -HP:0100639 Erectile abnormalities NOT_TRANSLATED -HP:0002335 Cerebellar vermis aplasia NOT_TRANSLATED -HP:0002335 Vermian agenesis NOT_TRANSLATED -HP:0100638 Neoplasia of the pharynx NOT_TRANSLATED -HP:0100638 Pharyngeal neoplasm NOT_TRANSLATED -HP:0100638 Tumor of the pharynx NOT_TRANSLATED -HP:0100638 Tumour of the pharynx NOT_TRANSLATED -HP:4000034 Infection-ssociated lymphocytopenia NOT_TRANSLATED -HP:0100641 Cortical adrenal neoplasia NOT_TRANSLATED -HP:4000029 AGA autoantibodies NOT_TRANSLATED -HP:0100643 Abnormality of nail colour NOT_TRANSLATED -HP:0100643 Nail dyschromia NOT_TRANSLATED -HP:0002339 Abnormality of the caudate nucleus NOT_TRANSLATED -HP:0100642 Medullar adrenal neoplasia NOT_TRANSLATED -HP:0002340 Caudate degeneration NOT_TRANSLATED -HP:0100645 Bladder hernia NOT_TRANSLATED -HP:0100645 Bladder prolapse NOT_TRANSLATED -HP:0100645 Dropped bladder NOT_TRANSLATED -HP:0100645 Prolapsed bladder NOT_TRANSLATED -HP:0002341 Cervical cord compression myelopathy NOT_TRANSLATED -HP:0002342 Mentale retardatie, matig CANDIDATE -HP:0002342 Matige mentale retardatie CANDIDATE -HP:0100647 Morbus Basedow NOT_TRANSLATED -HP:0002343 Normal-pressure hydrocephalus NOT_TRANSLATED -HP:0100646 Thyroid gland inflammation NOT_TRANSLATED -HP:0002344 Neurologic deterioration NOT_TRANSLATED -HP:0002344 Neurologic deterioration, progressive NOT_TRANSLATED -HP:0002344 Progressive mental deterioration NOT_TRANSLATED -HP:0002344 Progressive neurodegeneration NOT_TRANSLATED -HP:0002344 Worsening neurological symptoms NOT_TRANSLATED -HP:0100649 Lesion of oral cavity NOT_TRANSLATED -HP:0100649 Mouth neoplasm NOT_TRANSLATED -HP:0100649 Mouth tumor NOT_TRANSLATED -HP:0100649 Neoplasm of the mouth NOT_TRANSLATED -HP:0100649 Tumor of oral cavity NOT_TRANSLATED -HP:0100649 Tumour of oral cavity NOT_TRANSLATED -HP:4000021 Anti-laminin 5 antibody positivity NOT_TRANSLATED -HP:0002345 Ataxic tremor NOT_TRANSLATED -HP:0100651 Diabetes mellitus Type I NOT_TRANSLATED -HP:0100651 Insulin-dependent diabetes mellitus NOT_TRANSLATED -HP:0100651 Juvenile diabetes mellitus NOT_TRANSLATED -HP:0100651 Type 1 diabetes NOT_TRANSLATED -HP:0100651 Type I diabetes NOT_TRANSLATED -HP:0100650 Vaginal neoplasia NOT_TRANSLATED -HP:0100650 Vaginal tumor NOT_TRANSLATED -HP:0100650 Vaginal tumour NOT_TRANSLATED -HP:0002349 Focal aware seizures NOT_TRANSLATED -HP:0002349 Focal seizure with retained awareness NOT_TRANSLATED -HP:0002349 Focal seizure without impairment of awareness NOT_TRANSLATED -HP:0002349 Focal seizure without impairment of consciousness or awareness NOT_TRANSLATED -HP:0002349 Focal seizures without impairment of consciousness or awareness NOT_TRANSLATED -HP:0002349 Partial seizure with retained awareness NOT_TRANSLATED -HP:0002349 Partial seizure without impairment of awareness NOT_TRANSLATED -HP:0002349 Simple partial seizure NOT_TRANSLATED -HP:0002349 Simple partial seizures NOT_TRANSLATED -HP:0002350 Cerebellar cysts NOT_TRANSLATED -HP:0100654 Retrobulbar neuritis NOT_TRANSLATED -HP:0100657 Celosomia NOT_TRANSLATED -HP:0100657 Kelosomia NOT_TRANSLATED -HP:0002353 Abnormal EEG NOT_TRANSLATED -HP:0002353 Abnormal electroencephalogram NOT_TRANSLATED -HP:0002353 EEG abnormalities NOT_TRANSLATED -HP:0002353 Electroencephalogram abnormal NOT_TRANSLATED -HP:0002353 Electroencephalogram abnormalities NOT_TRANSLATED -HP:0100656 Thoracoabdominal schisis NOT_TRANSLATED -HP:0002354 Forgetfulness NOT_TRANSLATED -HP:0002354 Memory loss NOT_TRANSLATED -HP:0002354 Memory problems NOT_TRANSLATED -HP:0002354 Poor memory NOT_TRANSLATED -HP:0100659 Abnormality of the cerebral blood vessels NOT_TRANSLATED -HP:0100659 Abnormality of the cerebral vasculature NOT_TRANSLATED -HP:0002355 Difficulty in walking NOT_TRANSLATED -HP:0002355 Walking disability NOT_TRANSLATED -HP:0100658 Bacterial infection of skin NOT_TRANSLATED -HP:0100658 Skin infection NOT_TRANSLATED -HP:0100658 Skin infections NOT_TRANSLATED -HP:0100661 Tic douloureux NOT_TRANSLATED -HP:0100660 Disorder of involuntary muscle movements NOT_TRANSLATED -HP:0100660 Dyskinesias NOT_TRANSLATED -HP:0100660 Dyskinesis NOT_TRANSLATED -HP:0100662 Cartilage inflammation NOT_TRANSLATED -HP:0002360 Difficulty sleeping NOT_TRANSLATED -HP:0002360 Sleep disturbances NOT_TRANSLATED -HP:0002360 Sleep dysfunction NOT_TRANSLATED -HP:0002360 Trouble sleeping NOT_TRANSLATED -HP:0100665 Angioneurotic oedema NOT_TRANSLATED -HP:0100665 Angiooedema NOT_TRANSLATED -HP:0100665 Quincke edema NOT_TRANSLATED -HP:0100665 Quincke oedema NOT_TRANSLATED -HP:0002361 Psychomotor degeneration NOT_TRANSLATED -HP:4000004 Delayed myocardial gadolinium enhancement NOT_TRANSLATED -HP:0002362 Shuffled walk NOT_TRANSLATED -HP:4000007 Bronchial constriction NOT_TRANSLATED -HP:4000007 Constriction of the bronchi NOT_TRANSLATED -HP:0002363 Abnormal shape of brainstem NOT_TRANSLATED -HP:0002363 Abnormality of brainstem morphology NOT_TRANSLATED -HP:0002363 Abnormality of the brainstem NOT_TRANSLATED -HP:4000006 Prolonged myocardial native T1 NOT_TRANSLATED -HP:0100669 Abnormal color of the oral mucosa NOT_TRANSLATED -HP:0100669 Abnormal colour of the oral mucosa NOT_TRANSLATED -HP:0100669 Abnormal pigmentation of oral cavity NOT_TRANSLATED -HP:0100669 Abnormal pigmentation of oral mucous membrane NOT_TRANSLATED -HP:0100669 Abnormal pigmentation of the oral mucosa/gingivae NOT_TRANSLATED -HP:0002365 Brainstem hypoplasia NOT_TRANSLATED -HP:0002365 Hypoplastic brain stem NOT_TRANSLATED -HP:0002365 Hypoplastic brainstem NOT_TRANSLATED -HP:0002365 Small brainstem NOT_TRANSLATED -HP:0002365 Underdeveloped brainstem NOT_TRANSLATED -HP:0100668 Bowel duplication NOT_TRANSLATED -HP:0100668 Gut duplication NOT_TRANSLATED -HP:0002366 Lower motor neuron disease NOT_TRANSLATED -HP:0002366 Lower motor neuron manifestations NOT_TRANSLATED -HP:0002366 Lower motor neuron signs NOT_TRANSLATED -HP:0100671 Abnormal shape of spongy bone NOT_TRANSLATED -HP:0100671 Abnormality of bone trabeculation NOT_TRANSLATED -HP:0100670 Coarse trabeculation at metaphyses NOT_TRANSLATED -HP:0100670 Rough bone trabeculation NOT_TRANSLATED -HP:0100670 Rough trabeculation of bone NOT_TRANSLATED -HP:4000125 Honey ingestion in recent weeks NOT_TRANSLATED -HP:4000124 Foods high in oxalate, high intake NOT_TRANSLATED -HP:4000127 Sodium channel blocking drugs aggravate findings NOT_TRANSLATED -HP:4000121 Contact with poison ivy, poison oak, or sumac NOT_TRANSLATED -HP:0002373 Febrile convulsion NOT_TRANSLATED -HP:0002373 Febrile seizures NOT_TRANSLATED -HP:0002373 Fever induced seizures NOT_TRANSLATED -HP:0002373 Seizures, febrile, in early childhood NOT_TRANSLATED -HP:0002373 Seizures, generalized, associated with fever NOT_TRANSLATED -HP:4000120 Contact with nickel NOT_TRANSLATED -HP:0100679 Tight skin NOT_TRANSLATED -HP:0002375 Decreased muscle movement NOT_TRANSLATED -HP:0002375 Decreased spontaneous movement NOT_TRANSLATED -HP:0002375 Decreased spontaneous movements NOT_TRANSLATED -HP:0100678 Wrinkled skin NOT_TRANSLATED -HP:4000122 Breast feeding, exclusive NOT_TRANSLATED -HP:0002376 Loss of developmental milestones NOT_TRANSLATED -HP:0002376 Mental deterioration in childhood NOT_TRANSLATED -HP:0002376 Neurodevelopmental regression NOT_TRANSLATED -HP:0002376 Psychomotor regression NOT_TRANSLATED -HP:0002376 Psychomotor regression beginning in infancy NOT_TRANSLATED -HP:0002376 Psychomotor regression in infants NOT_TRANSLATED -HP:0002376 Psychomotor regression, progressive NOT_TRANSLATED -HP:0002378 Tremor of hand NOT_TRANSLATED -HP:0002378 Tremor of hands NOT_TRANSLATED -HP:0002378 tremors in hands NOT_TRANSLATED -HP:4000119 Calcium channel blocking drug use NOT_TRANSLATED -HP:0002380 Fasciculation NOT_TRANSLATED -HP:0002380 Muscle fasciculation NOT_TRANSLATED -HP:0002380 Muscle twitch NOT_TRANSLATED -HP:0100685 Abnormal Sharpey fibre morphology NOT_TRANSLATED -HP:0100685 Abnormality of Sharpey fibers NOT_TRANSLATED -HP:0100685 Abnormality of Sharpey fibres NOT_TRANSLATED -HP:0100685 Enthesis abnormality NOT_TRANSLATED -HP:0002381 Difficulty finding words NOT_TRANSLATED -HP:0002381 Losing words NOT_TRANSLATED -HP:0002381 Loss of words NOT_TRANSLATED -HP:0100684 Cancer of salivary gland NOT_TRANSLATED -HP:0100684 Salivary gland neoplasia NOT_TRANSLATED -HP:0100684 Tumor of salivary gland NOT_TRANSLATED -HP:0100684 Tumour of salivary gland NOT_TRANSLATED -HP:0002383 Brain inflammation NOT_TRANSLATED -HP:0100686 Inflammation of sharpey fibers NOT_TRANSLATED -HP:0100686 Inflammation of sharpey fibres NOT_TRANSLATED -HP:0002384 Complex focal seizures NOT_TRANSLATED -HP:0002384 Complex partial seizure NOT_TRANSLATED -HP:0002384 Complex partial seizures NOT_TRANSLATED -HP:0002384 Dyscognitive seizures NOT_TRANSLATED -HP:0002384 Focal dyscognitive seizure NOT_TRANSLATED -HP:0002384 Focal impaired awareness seizures NOT_TRANSLATED -HP:0002384 Focal seizure with impairment of awareness NOT_TRANSLATED -HP:0002384 Focal seizure with loss of awareness NOT_TRANSLATED -HP:0002384 Focal seizures with impairment of consciousness or awareness NOT_TRANSLATED -HP:0002384 Localised dyscognitive seizure NOT_TRANSLATED -HP:0002384 Localised seizure with impaired awareness NOT_TRANSLATED -HP:0002384 Localised seizure with loss of awareness NOT_TRANSLATED -HP:0002384 Localized dyscognitive seizure NOT_TRANSLATED -HP:0002384 Localized seizure with impaired awareness NOT_TRANSLATED -HP:0002384 Localized seizure with loss of awareness NOT_TRANSLATED -HP:0002384 Partial dyscognitive seizure NOT_TRANSLATED -HP:0002384 Partial seizure with impairment of awareness NOT_TRANSLATED -HP:0002384 Partial seizure with loss of awareness NOT_TRANSLATED -HP:0100689 Thin cornea NOT_TRANSLATED -HP:4000109 Electromagnetic field triggers symptoms NOT_TRANSLATED -HP:0002385 Partial paralysis of legs NOT_TRANSLATED -HP:4000108 Bone marrow: erythroid vacuolization NOT_TRANSLATED -HP:4000105 Abnormal four chamber view NOT_TRANSLATED -HP:0002389 Large cavum septi pellucidi NOT_TRANSLATED -HP:0002389 Persistent cavum septum pellucidum NOT_TRANSLATED -HP:0002389 Widened cavum septum pellucidum NOT_TRANSLATED -HP:0100692 Steep corneal curvature NOT_TRANSLATED -HP:4000104 Dental roots curved NOT_TRANSLATED -HP:4000107 Lupus band test positive NOT_TRANSLATED -HP:0002392 EEG: spike and multispike waves, 3-4 hz NOT_TRANSLATED -HP:0100697 Malignant peripheral nerve sheath tumor NOT_TRANSLATED -HP:0100697 Malignant peripheral nerve sheath tumour NOT_TRANSLATED -HP:0100697 Malignant schwannoma NOT_TRANSLATED -HP:0100697 Neurosarcoma NOT_TRANSLATED -HP:0100699 Scar tissue NOT_TRANSLATED -HP:4000103 Zinc oral supplementation produces improvement NOT_TRANSLATED -HP:0002395 Brisk lower extremity reflexes NOT_TRANSLATED -HP:0002395 Hyperreflexia in lower limbs NOT_TRANSLATED -HP:0002395 Hyperreflexia in the lower limbs NOT_TRANSLATED -HP:0002395 Increased deep tendon reflexes in the lower limbs NOT_TRANSLATED -HP:0002395 Leg hyperreflexia NOT_TRANSLATED -HP:0002395 Overactive lower leg reflex NOT_TRANSLATED -HP:4000102 Allopurinol exposure NOT_TRANSLATED -HP:0100701 Abnormality of the pia mater NOT_TRANSLATED -HP:0100700 Abnormality of the arachnoid mater NOT_TRANSLATED -HP:0100700 Abnormality of the arachnoidea NOT_TRANSLATED -HP:0002398 Anterior horn cell loss NOT_TRANSLATED -HP:0002398 Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord NOT_TRANSLATED -HP:0002398 Degeneration of spinal cord anterior horn cells NOT_TRANSLATED -HP:0002398 Loss of spinal cord anterior horn cells NOT_TRANSLATED -HP:0002398 Progressive loss of anterior horn cells NOT_TRANSLATED -HP:0002398 Spinal cord anterior horn cell degeneration NOT_TRANSLATED -HP:0100702 Arachnoid cysts NOT_TRANSLATED -HP:0100702 Fluid-filled sac located in membrane surrounding brain or spinal cord NOT_TRANSLATED -HP:0100705 Abnormality of the glial cells NOT_TRANSLATED -HP:0002401 Stroke-like episodes NOT_TRANSLATED -HP:0002401 Strokelike episodes NOT_TRANSLATED -HP:0100704 Cortical blindness NOT_TRANSLATED -HP:0100704 Cortical visual impairment NOT_TRANSLATED -HP:0100704 Cortical/cerebral visual impairment NOT_TRANSLATED -HP:0100704 CVI NOT_TRANSLATED -HP:4000092 Failure of normal back-and-forth conversation NOT_TRANSLATED -HP:0100707 Abnormality of the astrocytes NOT_TRANSLATED -HP:0100706 Abnormality of the oligodendroglia NOT_TRANSLATED -HP:0002404 Thick cerebellar peduncles NOT_TRANSLATED -HP:0100708 Abnormality of the microglia NOT_TRANSLATED -HP:0002406 Uncoordinated limb movement NOT_TRANSLATED -HP:0100711 Abnormality of the thoracic spine NOT_TRANSLATED -HP:0100710 Impulsive NOT_TRANSLATED -HP:4000090 Abnormal communicative gesture use NOT_TRANSLATED -HP:4000090 Abnormal communicative gestures NOT_TRANSLATED -HP:4000090 Abnormal gestures NOT_TRANSLATED -HP:0002408 Cerebral AV malformation NOT_TRANSLATED -HP:0100712 Abnormality of the lumbar spine NOT_TRANSLATED -HP:0002410 Aqueduct of Sylvius stenosis NOT_TRANSLATED -HP:0002410 Aqueduct stenosis NOT_TRANSLATED -HP:0002410 Narrowing of aqueduct of Sylvius NOT_TRANSLATED -HP:4000087 Abnormal communicative facial expressions NOT_TRANSLATED -HP:4000087 Abnormal facial expressions NOT_TRANSLATED -HP:0100717 Abnormality of the cementum NOT_TRANSLATED -HP:0100716 Autoagression NOT_TRANSLATED -HP:0100716 Self injury NOT_TRANSLATED -HP:0100716 Self-harm NOT_TRANSLATED -HP:0100716 Self-injurious behaviors NOT_TRANSLATED -HP:0100716 Self-injurious behaviour NOT_TRANSLATED -HP:0100716 Self-injurious behaviours NOT_TRANSLATED -HP:0002414 Split spine NOT_TRANSLATED -HP:0002415 Degeneration of white matter of brain NOT_TRANSLATED -HP:0002416 Subependymal germinolytic cyst NOT_TRANSLATED -HP:0002416 Subependymal pseudocyst NOT_TRANSLATED -HP:0100721 Swollen lymph nodes in center of chest NOT_TRANSLATED -HP:0100721 Swollen lymph nodes in centre of chest NOT_TRANSLATED -HP:0100720 Underdeveloped ear cartilage NOT_TRANSLATED -HP:4000076 Hand-taking gestures NOT_TRANSLATED -HP:0002418 Abnormal shape of midbrain NOT_TRANSLATED -HP:0002418 Abnormality of midbrain morphology NOT_TRANSLATED -HP:0002418 Abnormality of the mesencephalon NOT_TRANSLATED -HP:0002418 Abnormality of the midbrain NOT_TRANSLATED -HP:0100723 Gastrointestinal stroma tumour NOT_TRANSLATED -HP:0100723 Gastrointestinal stromal tumor NOT_TRANSLATED -HP:0100723 Gastrointestinal stromal tumors NOT_TRANSLATED -HP:0100723 Gastrointestinal stromal tumour NOT_TRANSLATED -HP:0100723 Gastrointestinal stromal tumours NOT_TRANSLATED -HP:0100723 GI stroma tumor NOT_TRANSLATED -HP:0100723 GI stroma tumour NOT_TRANSLATED -HP:0100723 GIST NOT_TRANSLATED -HP:0002419 Molar tooth sign NOT_TRANSLATED -HP:0002419 Molar tooth sign on brain imaging NOT_TRANSLATED -HP:0002419 Molar tooth sign on imaging NOT_TRANSLATED -HP:0100724 Blood hyperviscosity NOT_TRANSLATED -HP:0100724 Thrombophilia NOT_TRANSLATED -HP:0002423 Long tract signs NOT_TRANSLATED -HP:0100729 Big face NOT_TRANSLATED -HP:0100729 Large facies NOT_TRANSLATED -HP:0002425 Loss of articulate speech NOT_TRANSLATED -HP:0100731 Lateral facial cleft NOT_TRANSLATED -HP:0002427 Broca's aphasia NOT_TRANSLATED -HP:0002427 Loss of expressive speech NOT_TRANSLATED -HP:0002427 Motor aphasia NOT_TRANSLATED -HP:0002427 Non-fluent aphasia NOT_TRANSLATED -HP:4000070 Restricted interests NOT_TRANSLATED -HP:0100733 Parathyroid neoplasia NOT_TRANSLATED -HP:0100734 Abnormal shape of the end part of the vertebra bone NOT_TRANSLATED -HP:0100734 Abnormality of the vertebral epiphyses NOT_TRANSLATED -HP:0100737 Abnormality of the hard palate NOT_TRANSLATED -HP:0100737 Abnormality of the secondary palate NOT_TRANSLATED -HP:0100736 Abnormality of the muscular palate NOT_TRANSLATED -HP:0100736 Abnormality of the soft palate NOT_TRANSLATED -HP:0100736 Abnormality of the velum NOT_TRANSLATED -HP:0100736 Abnormality of the velum palatinum NOT_TRANSLATED -HP:0100739 Binge and purge NOT_TRANSLATED -HP:0100738 Abnormal eating behaviour NOT_TRANSLATED -HP:0100743 Rectal tumor NOT_TRANSLATED -HP:0100743 Rectal tumour NOT_TRANSLATED -HP:0100742 Blood vessel tumor NOT_TRANSLATED -HP:0100742 Blood vessel tumour NOT_TRANSLATED -HP:0002442 Difficulty making arithmetical calculations NOT_TRANSLATED -HP:0100747 Foot macrodactyly NOT_TRANSLATED -HP:0100746 Macrodactyly of hands NOT_TRANSLATED -HP:0100749 Chest discomfort NOT_TRANSLATED -HP:0100749 Thoracic pain NOT_TRANSLATED -HP:0002445 Paralysis of all four limbs NOT_TRANSLATED -HP:0002445 Quadriplegia NOT_TRANSLATED -HP:0100748 Muscular oedema NOT_TRANSLATED -HP:0002446 Increase in astrocyte number NOT_TRANSLATED -HP:0100751 Esophageal tumor NOT_TRANSLATED -HP:0100751 Esophageal tumour NOT_TRANSLATED -HP:0100750 Partial or complete collapse of part or entire lung NOT_TRANSLATED -HP:0100750 Pulmonary atelectasis NOT_TRANSLATED -HP:0002448 Progressive brain disease NOT_TRANSLATED -HP:0100752 Anomalous liver lobulation NOT_TRANSLATED -HP:0100752 Hepatic anomalous lobulation NOT_TRANSLATED -HP:0100752 Liver lobation abnormal NOT_TRANSLATED -HP:0002450 Abnormal shape of motor neuron NOT_TRANSLATED -HP:0100755 Abnormal spit NOT_TRANSLATED -HP:0100754 Manic NOT_TRANSLATED -HP:0100759 Clubbed fingers NOT_TRANSLATED -HP:0100759 Clubbing (hands) NOT_TRANSLATED -HP:0100759 Finger clubbing NOT_TRANSLATED -HP:0100758 Death of body tissue due to lack of blood flow or infection NOT_TRANSLATED -HP:0100760 Clubbed toes NOT_TRANSLATED -HP:0100763 Lymphatic disease NOT_TRANSLATED -HP:0100762 Haemobilia NOT_TRANSLATED -HP:0002460 Distal limb muscle weakness NOT_TRANSLATED -HP:0002460 Distal limb muscle weakness due to peripheral neuropathy NOT_TRANSLATED -HP:0002460 Distal limb weakness NOT_TRANSLATED -HP:0002460 Distal muscular weakness NOT_TRANSLATED -HP:0002460 Distal paresis NOT_TRANSLATED -HP:0002460 Muscle weakness, distal NOT_TRANSLATED -HP:0002460 Muscle weakness, distal limbs, due to neuronopathy NOT_TRANSLATED -HP:0002460 Weakness of distal muscles NOT_TRANSLATED -HP:0002460 Weakness of outermost muscles NOT_TRANSLATED -HP:0100767 Abnormality of the placenta NOT_TRANSLATED -HP:0100767 Placental issue NOT_TRANSLATED -HP:0002463 Language disorder NOT_TRANSLATED -HP:0100766 Abnormality of the lymphatic vessels NOT_TRANSLATED -HP:0002464 Rigid dysarthria NOT_TRANSLATED -HP:0002465 Difficulty speaking NOT_TRANSLATED -HP:0002465 Problems speaking NOT_TRANSLATED -HP:0100771 Intestinal hypoperistalsis NOT_TRANSLATED -HP:0100770 Stomach churning NOT_TRANSLATED -HP:4000153 Cervix squamous papilloma NOT_TRANSLATED -HP:4000152 Alternating sides of the body NOT_TRANSLATED -HP:0100774 Bone Hypertrophy NOT_TRANSLATED -HP:0100774 Bone overgrowth NOT_TRANSLATED -HP:4000154 Hepatic leiomyoma NOT_TRANSLATED -HP:0002472 Decreased volume of cerebral cortex NOT_TRANSLATED -HP:0100777 Formation of new noncancerous bone on top of existing bone NOT_TRANSLATED -HP:4000149 Necrosis in lymph node NOT_TRANSLATED -HP:0100776 Pharyngitis, recurrent NOT_TRANSLATED -HP:0100776 Recurrent sore throat NOT_TRANSLATED -HP:0002474 Communication delay NOT_TRANSLATED -HP:0002474 Deficit in expressive language NOT_TRANSLATED -HP:0002475 Meningomyelocele NOT_TRANSLATED -HP:0002475 Spina bifida cystica NOT_TRANSLATED -HP:0100778 Cryoprecipitable immune complexes NOT_TRANSLATED -HP:0002476 Archaic reflex NOT_TRANSLATED -HP:0002476 Primitive reflexes NOT_TRANSLATED -HP:0100781 Abnormality of the sacroiliac joint NOT_TRANSLATED -HP:4000145 Antecedent viral illness NOT_TRANSLATED -HP:0002478 Progressive spastic quadriparesis NOT_TRANSLATED -HP:0100783 Absent breast NOT_TRANSLATED -HP:0100783 Congenital absence of breast NOT_TRANSLATED -HP:0100783 Mammary gland aplasia NOT_TRANSLATED -HP:0100785 Difficulty staying or falling asleep NOT_TRANSLATED -HP:0100785 Fragmented sleep NOT_TRANSLATED -HP:4000141 Dilated left heart ventricle NOT_TRANSLATED -HP:4000140 Foetal bowel dilatation NOT_TRANSLATED -HP:0100786 Excessive sleepiness NOT_TRANSLATED -HP:4000142 Foetal trigonocephaly NOT_TRANSLATED -HP:4000142 Strawberry sign NOT_TRANSLATED -HP:4000142 Strawberry skull NOT_TRANSLATED -HP:4000142 Strawberry-shaped skull NOT_TRANSLATED -HP:0100789 Maxillary torus NOT_TRANSLATED -HP:0100789 Palatal tori NOT_TRANSLATED -HP:0100789 Palatal torus NOT_TRANSLATED -HP:0100789 Palate exostoses NOT_TRANSLATED -HP:0100789 Prominent midpalatal ridge NOT_TRANSLATED -HP:0100788 Adhesion of upper and lower lips NOT_TRANSLATED -HP:0100788 Fusion of upper and lower lips NOT_TRANSLATED -HP:0002486 Delayed relaxation of muscle fibers after contraction NOT_TRANSLATED -HP:0002486 Delayed relaxation of muscle fibres after contraction NOT_TRANSLATED -HP:4000139 Fetal cystic abdominal mass NOT_TRANSLATED -HP:4000139 Foetal abdominal cyst NOT_TRANSLATED -HP:4000139 Foetal cystic abdominal mass NOT_TRANSLATED -HP:0002487 Hyperkinesia NOT_TRANSLATED -HP:0002487 Hyperkinesis NOT_TRANSLATED -HP:0002487 Muscle spasms NOT_TRANSLATED -HP:0100790 Hernias NOT_TRANSLATED -HP:0002488 Acute blood cancer NOT_TRANSLATED -HP:0002488 Acute leukaemia NOT_TRANSLATED -HP:0002488 Acute leukemias NOT_TRANSLATED -HP:4000133 ACE inhibitors trigger attacks NOT_TRANSLATED -HP:0100792 Nikolsky's sign NOT_TRANSLATED -HP:4000132 Phenytoin produces worsening NOT_TRANSLATED -HP:0002490 Hyperlactatorachia NOT_TRANSLATED -HP:0002490 Increased cerebrospinal fluid lactate NOT_TRANSLATED -HP:0002490 Increased CSF lactic acid NOT_TRANSLATED -HP:0002491 Increased stiffness of facial muscles NOT_TRANSLATED -HP:0002491 Increased tone of facial muscles NOT_TRANSLATED -HP:0002491 Spasticity of the facial muscles NOT_TRANSLATED -HP:0002492 Abnormality of the corticospinal tract NOT_TRANSLATED -HP:0002492 Involvement of the corticospinal pathways NOT_TRANSLATED -HP:0100797 Abnormal toenail development NOT_TRANSLATED -HP:0100797 Dysplastic toenails NOT_TRANSLATED -HP:4000129 Blood transfusion, recent NOT_TRANSLATED -HP:0002493 Corticospinal tract dysfunction NOT_TRANSLATED -HP:0002493 Pyramidal tract dysfunction NOT_TRANSLATED -HP:0100796 Inflammation of testicles NOT_TRANSLATED -HP:4000128 Nitrous oxide abuse NOT_TRANSLATED -HP:0002494 Abnormal REM sleep NOT_TRANSLATED -HP:0100799 Middle ear tumor NOT_TRANSLATED -HP:0100799 Middle ear tumour NOT_TRANSLATED -HP:0100799 Neoplasia of the middle ear NOT_TRANSLATED -HP:4000131 Vitamin D reduces manifestations NOT_TRANSLATED -HP:0002495 Decreased vibration sense NOT_TRANSLATED -HP:0002495 Decreased vibratory sense NOT_TRANSLATED -HP:0002495 Diminished vibratory sense NOT_TRANSLATED -HP:0002495 Hypopallesthesia NOT_TRANSLATED -HP:0002495 Impaired vibratory sense NOT_TRANSLATED -HP:0100798 Abnormal fingernail development NOT_TRANSLATED -HP:0100798 Dysplastic fingernails NOT_TRANSLATED -HP:4000130 Colchicine ameliorates symptoms NOT_TRANSLATED -HP:0100801 Absent pancreas NOT_TRANSLATED -HP:0100800 Absent/small pancreas NOT_TRANSLATED -HP:0100800 Absent/underdeveloped pancreas NOT_TRANSLATED -HP:0100802 Abnormal stomach location NOT_TRANSLATED -HP:0100802 Gastric ectopia NOT_TRANSLATED -HP:0100802 Gastric malposition NOT_TRANSLATED -HP:0002500 Abnormality of subcortical white matter NOT_TRANSLATED -HP:0002500 Abnormality of the cerebral white matter NOT_TRANSLATED -HP:0002500 Cerebral white matter abnormalities NOT_TRANSLATED -HP:0002500 Cortical white matter abnormalities seen on MRI NOT_TRANSLATED -HP:0002500 Leukoaraiosis NOT_TRANSLATED -HP:0002500 White matter abnormalities NOT_TRANSLATED -HP:0002500 White matter alterations NOT_TRANSLATED -HP:0100804 Koenen tumor NOT_TRANSLATED -HP:0100804 Koenen tumour NOT_TRANSLATED -HP:0100804 Koenen's tumor NOT_TRANSLATED -HP:0100804 Koenen's tumour NOT_TRANSLATED -HP:0100804 Parungual fibromas NOT_TRANSLATED -HP:0100804 Periungual fibroma NOT_TRANSLATED -HP:0002503 Degeneration of the spinocerebellar tracts NOT_TRANSLATED -HP:0002503 Spinocerebellar degeneration NOT_TRANSLATED -HP:0100806 Infection in blood stream NOT_TRANSLATED -HP:0100809 Allodynia of scalp NOT_TRANSLATED -HP:0100809 Scalp hypersensitivity NOT_TRANSLATED -HP:0100809 Scalp pain NOT_TRANSLATED -HP:0002505 Loss of ability to walk NOT_TRANSLATED -HP:0100808 Stomach diverticulum NOT_TRANSLATED -HP:0002506 Cerebral atrophy, diffuse NOT_TRANSLATED -HP:0100811 Absent/small colon NOT_TRANSLATED -HP:0100811 Absent/underdeveloped colon NOT_TRANSLATED -HP:0100810 Elfin ear NOT_TRANSLATED -HP:0100810 Pointed ear NOT_TRANSLATED -HP:0100810 Spock ear NOT_TRANSLATED -HP:0100810 Spock's ear NOT_TRANSLATED -HP:0100810 Vulcan ear NOT_TRANSLATED -HP:0002508 Brainstem hypoplasia/dysplasia NOT_TRANSLATED -HP:0002508 Malformation of brainstem structures NOT_TRANSLATED -HP:0100813 Spermatic cord torsion NOT_TRANSLATED -HP:0002509 Increased muscle tone of arm or leg NOT_TRANSLATED -HP:0100812 Bad breath NOT_TRANSLATED -HP:0100812 Foetor ex ore NOT_TRANSLATED -HP:0002510 Spastic quadriplegia NOT_TRANSLATED -HP:0002511 Late-onset form of familial Alzheimer disease NOT_TRANSLATED -HP:0100814 Congenital dermal melanocytosis NOT_TRANSLATED -HP:0100814 Mongolian spot NOT_TRANSLATED -HP:0100817 Hypertension due to renal artery hyperplasia NOT_TRANSLATED -HP:0100816 Darkening of skin of the lips NOT_TRANSLATED -HP:0100816 Hyperpigmentation of lip vermillion NOT_TRANSLATED -HP:0100816 Increased pigmentation on the lips NOT_TRANSLATED -HP:0002514 Abnormal deposits of calcium in the brain NOT_TRANSLATED -HP:0002514 Brain calcification NOT_TRANSLATED -HP:0002514 Intracerebral calcifications NOT_TRANSLATED -HP:0002514 Intracranial calcification NOT_TRANSLATED -HP:0002514 Intracranial calcifications NOT_TRANSLATED -HP:0002515 Waddling walk NOT_TRANSLATED -HP:0100818 Long rib cage NOT_TRANSLATED -HP:0002516 Intracranial hypertension NOT_TRANSLATED -HP:0002516 Intracranial pressure elevation NOT_TRANSLATED -HP:0002516 Pseudotumor cerebri NOT_TRANSLATED -HP:0002516 Rise in pressure inside skull NOT_TRANSLATED -HP:0100820 Diseased glomeruli NOT_TRANSLATED -HP:0002518 Abnormality of the periventricular white matter NOT_TRANSLATED -HP:0002518 Periventricular white matter abnormalities NOT_TRANSLATED -HP:0100825 Inflammation of the lips NOT_TRANSLATED -HP:0100825 Red and sore lips NOT_TRANSLATED -HP:0002521 Hypsarrhythmia by EEG NOT_TRANSLATED -HP:0002522 Absent lower limb tendon reflexes NOT_TRANSLATED -HP:0002522 Areflexia in lower limbs NOT_TRANSLATED -HP:0002522 Areflexia of the lower limbs NOT_TRANSLATED -HP:0002522 Areflexia, lower limbs NOT_TRANSLATED -HP:0100827 High lymphocyte count NOT_TRANSLATED -HP:0100826 Nail tumor NOT_TRANSLATED -HP:0100826 Nail tumour NOT_TRANSLATED -HP:0100829 Galactorrhoea NOT_TRANSLATED -HP:0100829 Spontaneous milk flow from breast NOT_TRANSLATED -HP:0100828 Increase in T cell count NOT_TRANSLATED -HP:0100828 Increase in T cell number NOT_TRANSLATED -HP:0100833 Small intestine tumor NOT_TRANSLATED -HP:0100833 Small intestine tumour NOT_TRANSLATED -HP:0002529 Loss of brain cells NOT_TRANSLATED -HP:0002529 Neuronal loss NOT_TRANSLATED -HP:0002529 Neuronal loss in CNS NOT_TRANSLATED -HP:0100832 Eye floaters NOT_TRANSLATED -HP:0100832 Flitting flies NOT_TRANSLATED -HP:0100832 Mouches volantes NOT_TRANSLATED -HP:0100832 Myodeopsia NOT_TRANSLATED -HP:0100832 Myodesopsia NOT_TRANSLATED -HP:0100832 Spots in front of eyes NOT_TRANSLATED -HP:0100832 Vitreous condensations NOT_TRANSLATED -HP:0100832 Vitreous debris NOT_TRANSLATED -HP:0100832 Vitreous opacities NOT_TRANSLATED -HP:0100832 Vitreous veils NOT_TRANSLATED -HP:0002530 Truncal dystonia NOT_TRANSLATED -HP:0100835 Benign neoplasm of the CNS NOT_TRANSLATED -HP:0100834 Large intestine tumor NOT_TRANSLATED -HP:0100834 Large intestine tumour NOT_TRANSLATED -HP:0100837 Vermiculata atrophoderma NOT_TRANSLATED -HP:0100836 Malignant neoplasm of the CNS NOT_TRANSLATED -HP:0100839 Failed liver development NOT_TRANSLATED -HP:0100839 Liver agenesis NOT_TRANSLATED -HP:0002536 Abnormal gyration NOT_TRANSLATED -HP:0002536 Cerebral gyral anomalies NOT_TRANSLATED -HP:0002536 Gyral disorganization NOT_TRANSLATED -HP:0100840 Absence of eyebrow NOT_TRANSLATED -HP:0100840 Agenesis of eyebrow NOT_TRANSLATED -HP:0100840 Hypotrophic eyebrow NOT_TRANSLATED -HP:0100840 Lack of eyebrow NOT_TRANSLATED -HP:0100840 Missing eyebrow NOT_TRANSLATED -HP:0100840 Sparse or absent eyebrows NOT_TRANSLATED -HP:0100840 Sparse to absent eyebrows NOT_TRANSLATED -HP:0100840 Sparse/absent eyebrows NOT_TRANSLATED -HP:0002538 Abnormality of the cerebral cortex NOT_TRANSLATED -HP:0002539 Neocortical dysplasia NOT_TRANSLATED -HP:0100842 De Morsier syndrome NOT_TRANSLATED -HP:0002540 Non-ambulatory NOT_TRANSLATED -HP:0100845 Anaphylaxis NOT_TRANSLATED -HP:0002542 Olivopontocerebellar degeneration NOT_TRANSLATED -HP:0100847 Palmoplantar pustules NOT_TRANSLATED -HP:0100847 Pustulosis of palms and soles NOT_TRANSLATED -HP:0100847 Pustulosis palmaris et plantaris NOT_TRANSLATED -HP:0100849 Neoplasia of the scrotum NOT_TRANSLATED -HP:0100849 Scrotum tumor NOT_TRANSLATED -HP:0100849 Scrotum tumour NOT_TRANSLATED -HP:0100848 Neoplasia of the male external genitalia NOT_TRANSLATED -HP:0100851 Abnormal emotion/affect behaviour NOT_TRANSLATED -HP:0100850 Neoplasia of the penis NOT_TRANSLATED -HP:0100850 Penis tumor NOT_TRANSLATED -HP:0100850 Penis tumour NOT_TRANSLATED -HP:0002548 Favorable response to levodopa NOT_TRANSLATED -HP:0002548 Favourable response to levodopa NOT_TRANSLATED -HP:0002548 Parkinsonism with favourable response to dopaminergic medication NOT_TRANSLATED -HP:0100853 Hypoplastic areolae NOT_TRANSLATED -HP:0002549 Deficit in non-word repetition NOT_TRANSLATED -HP:0002549 Impaired non-word repetition NOT_TRANSLATED -HP:0100852 Abnormal fear/anxiety-related behaviour NOT_TRANSLATED -HP:0100855 Small triceps NOT_TRANSLATED -HP:0100855 Underdeveloped triceps NOT_TRANSLATED -HP:0100854 Absent musculature NOT_TRANSLATED -HP:0002552 Generalised trichodysplasia NOT_TRANSLATED -HP:0002552 Generalized trichodysplasia NOT_TRANSLATED -HP:0002553 Arched eyebrows NOT_TRANSLATED -HP:0002553 Bowed and upward slanting eyebrows NOT_TRANSLATED -HP:0002553 Broad, arched eyebrows NOT_TRANSLATED -HP:0002553 High arched eyebrows NOT_TRANSLATED -HP:0002553 High, rounded eyebrows NOT_TRANSLATED -HP:0002553 High-arched eyebrows NOT_TRANSLATED -HP:0002553 Thick, flared eyebrows NOT_TRANSLATED -HP:0100859 Superior mesenteric artery aneurysm NOT_TRANSLATED -HP:0100858 Celiac artery aneurysm NOT_TRANSLATED -HP:0100858 Coeliac artery aneurysm NOT_TRANSLATED -HP:0100858 Dilatation of coeliac artery NOT_TRANSLATED -HP:0100861 Vertebral body sclerosis NOT_TRANSLATED -HP:0002557 Nipple hypoplasia NOT_TRANSLATED -HP:0002557 Small nipples NOT_TRANSLATED -HP:0100860 Inferior mesenteric artery aneurysm NOT_TRANSLATED -HP:0002558 accessory mamilla NOT_TRANSLATED -HP:0002558 accessory mamillas NOT_TRANSLATED -HP:0002558 Accessory nipple NOT_TRANSLATED -HP:0002558 Accessory nipples NOT_TRANSLATED -HP:0002558 Increased nipple number NOT_TRANSLATED -HP:0002558 Supernumerary nipples NOT_TRANSLATED -HP:0100863 Absent neck of thighbone NOT_TRANSLATED -HP:0100862 Absent femoral head NOT_TRANSLATED -HP:0002561 Absent nipples NOT_TRANSLATED -HP:0002561 Athelia NOT_TRANSLATED -HP:0100864 Hypoplasia of the femoral neck NOT_TRANSLATED -HP:0100864 Hypoplastic femoral neck NOT_TRANSLATED -HP:0100864 Short femoral necks NOT_TRANSLATED -HP:0100864 Short neck of thighbone NOT_TRANSLATED -HP:0100867 Duodenal stenosis/atresia NOT_TRANSLATED -HP:0100866 Short pelvis bones NOT_TRANSLATED -HP:0100869 Telangiectases of palms and soles NOT_TRANSLATED -HP:0100869 Teleangiectases of palms NOT_TRANSLATED -HP:0002566 Gut malrotation NOT_TRANSLATED -HP:0002566 Malrotation NOT_TRANSLATED -HP:0100871 Abnormality of the palm NOT_TRANSLATED -HP:0100870 Plantar teleangiectasia NOT_TRANSLATED -HP:0100870 Telangiectases of soles NOT_TRANSLATED -HP:0100870 Teleangiectases of soles NOT_TRANSLATED -HP:0100872 Minor feet anomalies NOT_TRANSLATED -HP:0002570 Fat in faeces NOT_TRANSLATED -HP:0002570 Fat in feces NOT_TRANSLATED -HP:0002570 Fatty stool NOT_TRANSLATED -HP:0002570 Greasy stools NOT_TRANSLATED -HP:0100875 Hemiglossal hyperplasia NOT_TRANSLATED -HP:0100875 Hemiglossal hypertrophy NOT_TRANSLATED -HP:0100875 Hyperplasia of half of the tongue NOT_TRANSLATED -HP:0100875 Hypertrophy of half of the tongue NOT_TRANSLATED -HP:0100875 Increased size of half of the tongue NOT_TRANSLATED -HP:0100875 Large half of tongue NOT_TRANSLATED -HP:0002571 Achalasia of the esophagus NOT_TRANSLATED -HP:0002571 Achalasia of the oesophagus NOT_TRANSLATED -HP:0100874 Increased follicular density NOT_TRANSLATED -HP:0100874 Increased hair density NOT_TRANSLATED -HP:0002572 Frequent vomiting NOT_TRANSLATED -HP:0100877 Caliceal diverticulum NOT_TRANSLATED -HP:0100877 Pelvic diverticulum NOT_TRANSLATED -HP:0100877 Renal pelvic diverticulum NOT_TRANSLATED -HP:0002573 Rectal bleeding NOT_TRANSLATED -HP:0002573 Recurrent rectal bleeding NOT_TRANSLATED -HP:0100876 Crease in skin under the eye NOT_TRANSLATED -HP:0100876 Groove in skin under the eye NOT_TRANSLATED -HP:0100876 Infraorbital crease NOT_TRANSLATED -HP:0100876 Infraorbital creases NOT_TRANSLATED -HP:0100876 Underorbital skin creases NOT_TRANSLATED -HP:0002574 Intermittent abdominal pain NOT_TRANSLATED -HP:0002575 Abnormal connection between trachea and esophagus NOT_TRANSLATED -HP:0002575 Abnormal connection between trachea and oesophagus NOT_TRANSLATED -HP:0002577 Abnormality of the stomach NOT_TRANSLATED -HP:0002578 Delayed gastric emptying NOT_TRANSLATED -HP:0100883 Placental hamartoma NOT_TRANSLATED -HP:0002579 GI dysmotility NOT_TRANSLATED -HP:0100882 Fibrous hamartoma of infancy NOT_TRANSLATED -HP:0100885 Klippel-Trenaunay vein NOT_TRANSLATED -HP:0100885 Lateral marginal vein of Servelle NOT_TRANSLATED -HP:0100885 Vein of Servelle NOT_TRANSLATED -HP:0002582 Chronic atrophic gastritis NOT_TRANSLATED -HP:0100887 Abnormality of eyeball size NOT_TRANSLATED -HP:0100887 Eye size difference NOT_TRANSLATED -HP:0100886 Abnormality of eyeball location NOT_TRANSLATED -HP:0100886 Abnormality of eyeball position NOT_TRANSLATED -HP:0100886 Abnormality of globe position NOT_TRANSLATED -HP:0002584 Intestinal haemorrhage NOT_TRANSLATED -HP:0002584 Intestinal hemorrhage NOT_TRANSLATED -HP:0100889 Abnormality of the common bile duct NOT_TRANSLATED -HP:0002586 Inflammation of the peritoneum NOT_TRANSLATED -HP:0100891 Bifid xiphisternum NOT_TRANSLATED -HP:0100890 Choledochal cyst NOT_TRANSLATED -HP:0100893 Prominent xiphisternum NOT_TRANSLATED -HP:0002589 GI atresia NOT_TRANSLATED -HP:0002591 Hyperphagia NOT_TRANSLATED -HP:0002591 Increased appetite NOT_TRANSLATED -HP:0002591 Voracious appetite NOT_TRANSLATED -HP:0100894 Broad xiphisternum NOT_TRANSLATED -HP:0002592 Stomach ulcer NOT_TRANSLATED -HP:0100896 Multiple rectal polyps NOT_TRANSLATED -HP:0100896 Rectal polyps NOT_TRANSLATED -HP:0002594 Hypoplastic pancreas NOT_TRANSLATED -HP:0002594 Underdeveloped pancreas NOT_TRANSLATED -HP:0100899 Increased bone density in the finger bone NOT_TRANSLATED -HP:0100899 Sclerosis of the phalanges of the hand NOT_TRANSLATED -HP:0002595 Gastrointestinal atony NOT_TRANSLATED -HP:0100901 Increased bone density in the outermost bone of the middle finger NOT_TRANSLATED -HP:0002597 Abnormality of blood vessels NOT_TRANSLATED -HP:0002597 Vascular abnormalities NOT_TRANSLATED -HP:0100900 Increased bone density in the outermost bone of the index finger NOT_TRANSLATED -HP:0100903 Increased bone density in the outermost little finger bone NOT_TRANSLATED -HP:0100903 Increased bone density in the outermost pinkie finger bone NOT_TRANSLATED -HP:0100903 Increased bone density in the outermost pinky finger bone NOT_TRANSLATED -HP:0100902 Increased bone density in the outermost bone of the ring finger NOT_TRANSLATED -HP:0002600 Hyporeflexia in lower limbs NOT_TRANSLATED -HP:0002600 Hyporeflexia of the lower limbs NOT_TRANSLATED -HP:0002600 Hyporeflexia, lower limbs NOT_TRANSLATED -HP:0002600 Hyporeflexia/areflexia in lower limbs NOT_TRANSLATED -HP:0100905 Increased bone density in the middle bone of the middle finger NOT_TRANSLATED -HP:0100904 Increased bone density in the middle bone of the index finger NOT_TRANSLATED -HP:0100907 Increased bone density in the middle bone of the little finger NOT_TRANSLATED -HP:0100907 Increased bone density in the middle bone of the pinkie finger NOT_TRANSLATED -HP:0100907 Increased bone density in the middle bone of the pinky finger NOT_TRANSLATED -HP:0100906 Increased bone density in the middle bone of the ring finger NOT_TRANSLATED -HP:0002604 GI telangiectasia NOT_TRANSLATED -HP:0002604 Small, enlarged blood vessels near skin NOT_TRANSLATED -HP:0100909 Increased bone density in innermost bone of the middle finger NOT_TRANSLATED -HP:0100908 Increased bone density in the innermost bone of the index finger NOT_TRANSLATED -HP:0100911 Increased bone density in innermost little finger bone NOT_TRANSLATED -HP:0100911 Increased bone density in innermost pinkie finger bone NOT_TRANSLATED -HP:0100911 Increased bone density in innermost pinky finger bone NOT_TRANSLATED -HP:0002607 Anal incontinence NOT_TRANSLATED -HP:0002607 Faecal incontinence NOT_TRANSLATED -HP:0002607 Fecal incontinence NOT_TRANSLATED -HP:0002607 Loss of bowel control NOT_TRANSLATED -HP:0100910 Increased bone density in the innermost bone of the ring finger NOT_TRANSLATED -HP:0002608 Celiac sprue NOT_TRANSLATED -HP:0002608 Coeliac disease NOT_TRANSLATED -HP:0002608 Coeliac sprue NOT_TRANSLATED -HP:0100913 Increased bone density in the innermost bone of the thumb NOT_TRANSLATED -HP:0100912 Increased bone density in the outermost bone of the thumb NOT_TRANSLATED -HP:0100915 Increased bone density in outermost finger bone NOT_TRANSLATED -HP:0100915 Sclerosis of the distal phalanges of the hand NOT_TRANSLATED -HP:0100914 Increased bone density in 1st long bone of hand NOT_TRANSLATED -HP:0002612 Congenital liver fibrosis NOT_TRANSLATED -HP:0002612 Excessive buildup of connective tissue and scarring of liver at birth NOT_TRANSLATED -HP:0100917 Increased bone density in innermost finger bone NOT_TRANSLATED -HP:0100917 Sclerosis of the proximal phalanges of the hand NOT_TRANSLATED -HP:0002613 Primary biliary cirrhosis NOT_TRANSLATED -HP:0100916 Increased bone density in middle finger bone of hand NOT_TRANSLATED -HP:0100916 Sclerosis of the middle phalanges of the hand NOT_TRANSLATED -HP:0100919 Increased bone density in middle finger bone NOT_TRANSLATED -HP:0100919 Sclerosis of the phalanges of the 3rd finger NOT_TRANSLATED -HP:0002615 Arterial hypotension NOT_TRANSLATED -HP:0002615 Low blood pressure NOT_TRANSLATED -HP:0100918 Increased bone density in 2nd finger bone NOT_TRANSLATED -HP:0100918 Sclerosis of the phalanges of the 2nd finger NOT_TRANSLATED -HP:0002616 Aortic root dilatation NOT_TRANSLATED -HP:0002616 Bulge in wall of root of large artery that carries blood away from heart NOT_TRANSLATED -HP:0002616 Increased aortic root diameter NOT_TRANSLATED -HP:0100921 Increased bone density in little finger bone NOT_TRANSLATED -HP:0100921 Increased bone density in pinkie finger bone NOT_TRANSLATED -HP:0100921 Increased bone density in pinky finger bone NOT_TRANSLATED -HP:0100921 Sclerosis of the phalanges of the 5th finger NOT_TRANSLATED -HP:0002617 Aneurysm NOT_TRANSLATED -HP:0002617 Aneurysmal dilatation NOT_TRANSLATED -HP:0002617 Aneurysmal disease NOT_TRANSLATED -HP:0002617 Aneurysms NOT_TRANSLATED -HP:0002617 Wider than typical opening or gap NOT_TRANSLATED -HP:0100920 Increased bone density in ring finger bone NOT_TRANSLATED -HP:0100920 Sclerosis of the phalanges of the 4th finger NOT_TRANSLATED -HP:0100923 Increased bone density in collarbone NOT_TRANSLATED -HP:0100923 Osteosclerosis of the clavicle NOT_TRANSLATED -HP:0100923 Osteosclerosis of the clavicles NOT_TRANSLATED -HP:0100922 Increased bone density in thumb bone NOT_TRANSLATED -HP:0100922 Sclerosis of the phalanges of the thumb NOT_TRANSLATED -HP:0100925 Increased bone density in foot bone NOT_TRANSLATED -HP:0100925 Sclerosis of bones of the feet NOT_TRANSLATED -HP:0002621 Atherosclerotic cardiovascular disease NOT_TRANSLATED -HP:0002621 Narrowing and hardening of arteries NOT_TRANSLATED -HP:0002621 Plaque build-up in arteries NOT_TRANSLATED -HP:0100924 Increased bone density in the toe bone NOT_TRANSLATED -HP:0100924 Sclerosis of the phalanges of the toes NOT_TRANSLATED -HP:0100927 Increased bone density in 3rd toe bone NOT_TRANSLATED -HP:0100927 Sclerosis of the phalanges of the 3rd toe NOT_TRANSLATED -HP:0002623 Dextroposition of aorta NOT_TRANSLATED -HP:0002623 Overriding aortic valve NOT_TRANSLATED -HP:0100926 Increased bone density in 2nd toe bone NOT_TRANSLATED -HP:0100926 Sclerosis of the phalanges of the 2nd toe NOT_TRANSLATED -HP:0002624 Abnormal vein NOT_TRANSLATED -HP:0002624 Venous abnormality NOT_TRANSLATED -HP:0100929 Increased bone density in little toe bone NOT_TRANSLATED -HP:0100929 Increased bone density in pinkie toe bone NOT_TRANSLATED -HP:0100929 Increased bone density in pinky toe bone NOT_TRANSLATED -HP:0100929 Sclerosis of the phalanges of the 5th toe NOT_TRANSLATED -HP:0002625 Blood clot in a deep vein NOT_TRANSLATED -HP:0002625 Deep vein thrombosis NOT_TRANSLATED -HP:0002625 Multiple deep venous thrombosis NOT_TRANSLATED -HP:0100928 Increased bone density in 4th toe bone NOT_TRANSLATED -HP:0100928 Sclerosis of the phalanges of the 4th toe NOT_TRANSLATED -HP:0002626 Venous varicosities of coeliac and mesenteric vessels NOT_TRANSLATED -HP:0100931 Increased bone density in the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0100930 Increased bone density in big toe bone NOT_TRANSLATED -HP:0100930 Sclerosis of the phalanges of the hallux NOT_TRANSLATED -HP:0100933 Increased bone density in the innermost bone of the 4th toe NOT_TRANSLATED -HP:0002629 GI arteriovenous malformation NOT_TRANSLATED -HP:0100932 Increased bone density in the innermost bone of the 3rd toe NOT_TRANSLATED -HP:0100935 Increased bone density in the middle bone of the 2nd toe NOT_TRANSLATED -HP:0100934 Increased bone density in the innermost bone of the little toe NOT_TRANSLATED -HP:0100934 Increased bone density in the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0100934 Increased bone density in the innermost bone of the pinky toe NOT_TRANSLATED -HP:0002632 Low-to-normal BP NOT_TRANSLATED -HP:0100937 Increased bone density in the middle bone of the 4th toe NOT_TRANSLATED -HP:0002633 Angiitis NOT_TRANSLATED -HP:0002633 Inflammation of blood vessel NOT_TRANSLATED -HP:0100936 Increased bone density in the middle bone of the 3rd toe NOT_TRANSLATED -HP:0002634 Hardened artery wall NOT_TRANSLATED -HP:0100939 Increased bone density in the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0002635 Atheromatosis NOT_TRANSLATED -HP:0100938 Increased bone density in the middle bone of the little toe NOT_TRANSLATED -HP:0100938 Increased bone density in the middle bone of the pinkie toe NOT_TRANSLATED -HP:0100938 Increased bone density in the middle bone of the pinky toe NOT_TRANSLATED -HP:0002636 Aneurysm of an abdominal artery NOT_TRANSLATED -HP:0100941 Increased bone density in the outermost bone of the 4th toe NOT_TRANSLATED -HP:0002637 Brain ischemia NOT_TRANSLATED -HP:0002637 Cerebrovascular ischemia NOT_TRANSLATED -HP:0002637 Disruption of blood oxygen supply to brain NOT_TRANSLATED -HP:0100940 Increased bone density in the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0100943 Increased bone density in the innermost bone of the big toe NOT_TRANSLATED -HP:0100942 Increased bone density in the outermost bone of the little toe NOT_TRANSLATED -HP:0100942 Increased bone density in the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0100942 Increased bone density in the outermost bone of the pinky toe NOT_TRANSLATED -HP:0100945 Increased bone density in the 1st long bone of foot NOT_TRANSLATED -HP:0002641 Peripheral blood clot NOT_TRANSLATED -HP:0100944 Increased bone density in the outermost bone of the big toe NOT_TRANSLATED -HP:0002642 Arteriovenous fistulas of coeliac and mesenteric vessels NOT_TRANSLATED -HP:0100947 Increased bone density in middle toe bone NOT_TRANSLATED -HP:0100947 Sclerosis of the middle phalanges of the toes NOT_TRANSLATED -HP:0002643 Infantile respiratory distress NOT_TRANSLATED -HP:0002643 Newborn respiratory distress NOT_TRANSLATED -HP:0002643 Respiratory distress, neonatal NOT_TRANSLATED -HP:0100946 Increased bone density in innermost toe bone NOT_TRANSLATED -HP:0100946 Sclerosis of the proximal phalanges of the toes NOT_TRANSLATED -HP:0002644 Abnormal shape of pelvic girdle bone NOT_TRANSLATED -HP:0002644 Abnormality of pelvic girdle bone morphology NOT_TRANSLATED -HP:0002644 Abnormality of the pelvic girdle NOT_TRANSLATED -HP:0002645 Extra bones within cranial sutures NOT_TRANSLATED -HP:0002645 Intra sutural bones NOT_TRANSLATED -HP:0002645 Intrasutural bones NOT_TRANSLATED -HP:0002645 Islands of bone within cranial sutures NOT_TRANSLATED -HP:0100948 Increased bone density in the outermost bone of the toes NOT_TRANSLATED -HP:0100948 Sclerosis of the distal phalanges of the toes NOT_TRANSLATED -HP:0100951 Enlarged basal cistern NOT_TRANSLATED -HP:0100951 Enlarged interpeduncular cistern NOT_TRANSLATED -HP:0002647 Tear in inner wall of large artery that carries blood away from heart NOT_TRANSLATED -HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiency NOT_TRANSLATED -HP:0100950 Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency NOT_TRANSLATED -HP:0100950 Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency NOT_TRANSLATED -HP:0100953 Enlarged great longitudinal fissure NOT_TRANSLATED -HP:0100953 Enlarged longitudinal cerebral fissure NOT_TRANSLATED -HP:0100953 Enlarged longitudinal fissure NOT_TRANSLATED -HP:0100952 Enlarged lateral fissure NOT_TRANSLATED -HP:0100952 Enlarged lateral sulcus NOT_TRANSLATED -HP:0100952 Enlarged sylvian fissure NOT_TRANSLATED -HP:0002652 Abnormal skeletal development NOT_TRANSLATED -HP:0100957 Abnormality of the renal medulla NOT_TRANSLATED -HP:0100959 Dense metaphyseal band sign NOT_TRANSLATED -HP:0100959 Dense metaphyseal lines NOT_TRANSLATED -HP:0100959 Lead lines in metaphyses of bones NOT_TRANSLATED -HP:0100959 Transverse metaphyseal bands NOT_TRANSLATED -HP:0002655 Spondyloepiphyseal dysplasia tarda NOT_TRANSLATED -HP:0002656 Abnormal development of end part of bone NOT_TRANSLATED -HP:0002656 Abnormal development of the ends of long bones in arms and legs NOT_TRANSLATED -HP:0100960 Asymmetric lateral ventricles NOT_TRANSLATED -HP:0100960 Asymmetric ventricles NOT_TRANSLATED -HP:0100960 Cerebral lateral ventricular asymmetry NOT_TRANSLATED -HP:0100963 Hyperaesthesia NOT_TRANSLATED -HP:0002659 Abnormal susceptibility to fractures NOT_TRANSLATED -HP:0002659 Bone fragility NOT_TRANSLATED -HP:0002659 Frequent broken bones NOT_TRANSLATED -HP:0002659 Increased bone fragility NOT_TRANSLATED -HP:0002659 Increased tendency to fractures NOT_TRANSLATED -HP:0002663 Delayed epiphyseal maturation NOT_TRANSLATED -HP:0002663 Delayed maturation of end part of long bone NOT_TRANSLATED -HP:0002663 Delayed opacification of the epiphyses NOT_TRANSLATED -HP:0002663 Epiphyseal ossification delay NOT_TRANSLATED -HP:0002664 Abnormal tissue mass NOT_TRANSLATED -HP:0002664 Cancer NOT_TRANSLATED -HP:0002664 Neoplasia NOT_TRANSLATED -HP:0002664 Oncological abnormality NOT_TRANSLATED -HP:0002664 Oncology NOT_TRANSLATED -HP:0002664 Tumor NOT_TRANSLATED -HP:0002664 Tumour NOT_TRANSLATED -HP:0002665 Cancer of lymphatic system NOT_TRANSLATED -HP:0002666 Chromaffin tumors NOT_TRANSLATED -HP:0002666 Chromaffin tumours NOT_TRANSLATED -HP:0002667 Wilm's tumor NOT_TRANSLATED -HP:0002667 Wilm's tumour NOT_TRANSLATED -HP:0002667 Wilms tumor NOT_TRANSLATED -HP:0002667 Wilms tumour NOT_TRANSLATED -HP:0002668 Carotid body tumors NOT_TRANSLATED -HP:0002668 Carotid body tumours NOT_TRANSLATED -HP:0002668 Paragangliomas NOT_TRANSLATED -HP:0002669 Bone cell cancer NOT_TRANSLATED -HP:0002669 Osteogenic sarcoma NOT_TRANSLATED -HP:0002671 Basal cell carcinomas NOT_TRANSLATED -HP:0002671 Basal cell epithelioma NOT_TRANSLATED -HP:0002671 Basal cell nevus NOT_TRANSLATED -HP:0002671 Basalioma NOT_TRANSLATED -HP:0002672 GI carcinoma NOT_TRANSLATED -HP:0002673 Coxa valga deformity NOT_TRANSLATED -HP:0002673 Valgus hip NOT_TRANSLATED -HP:0002676 Cloverleaf cranium shape NOT_TRANSLATED -HP:0002676 Cloverleaf skull shape NOT_TRANSLATED -HP:0002676 Kleeblattschaedel NOT_TRANSLATED -HP:0002676 Trilobar cranium shape NOT_TRANSLATED -HP:0002676 Trilobar skull shape NOT_TRANSLATED -HP:0002677 Foramen magnum stenosis NOT_TRANSLATED -HP:0002677 Hypoplasia of foramen magnum NOT_TRANSLATED -HP:0002677 Little foramen magnum NOT_TRANSLATED -HP:0002677 Narrow foramen magnum NOT_TRANSLATED -HP:0002677 Stenosis of foramen magnum NOT_TRANSLATED -HP:0002678 Abnormality of skull shape NOT_TRANSLATED -HP:0002678 Asymmetry of skull NOT_TRANSLATED -HP:0002678 Malformation of skull shape NOT_TRANSLATED -HP:0002678 Unequal skull shape NOT_TRANSLATED -HP:0002678 Uneven skull shape NOT_TRANSLATED -HP:0002679 Abnormality of the hypophysial fossa NOT_TRANSLATED -HP:0002679 Abnormality of the pituitary fossa NOT_TRANSLATED -HP:0002679 Abnormality of the sella turcica NOT_TRANSLATED -HP:0002679 Anomaly of the hypophysial fossa NOT_TRANSLATED -HP:0002679 Anomaly of the pituitary fossa NOT_TRANSLATED -HP:0002679 Anomaly of the sella turcica NOT_TRANSLATED -HP:0002680 Hour glass shaped hypophysial fossa NOT_TRANSLATED -HP:0002680 Hour glass shaped pituitary fossa NOT_TRANSLATED -HP:0002680 Hour glass shaped sella turcica NOT_TRANSLATED -HP:0002680 J-shaped hypophysial fossa NOT_TRANSLATED -HP:0002680 J-shaped pituitary fossa NOT_TRANSLATED -HP:0002680 J-shaped sella NOT_TRANSLATED -HP:0002680 Omega shaped hypophysial fossa NOT_TRANSLATED -HP:0002680 Omega shaped pituitary fossa NOT_TRANSLATED -HP:0002680 Omega shaped sella turcica NOT_TRANSLATED -HP:0002681 Abnormal shape of hypophysial fossa NOT_TRANSLATED -HP:0002681 Abnormal shape of pituitary fossa NOT_TRANSLATED -HP:0002681 Abnormal shape of sella turcica NOT_TRANSLATED -HP:0002681 Deformity of hypophysial fossa NOT_TRANSLATED -HP:0002681 Deformity of pituitary fossa NOT_TRANSLATED -HP:0002681 Malformation of hypophysial fossa NOT_TRANSLATED -HP:0002681 Malformation of pituitary fossa NOT_TRANSLATED -HP:0002681 Malformation of sella turcica NOT_TRANSLATED -HP:0002682 Broad cranium NOT_TRANSLATED -HP:0002682 Increased width of cranium NOT_TRANSLATED -HP:0002682 Increased width of skull NOT_TRANSLATED -HP:0002682 Wide cranium NOT_TRANSLATED -HP:0002682 Wide skull NOT_TRANSLATED -HP:0002683 Abnormality of calvarium NOT_TRANSLATED -HP:0002683 Abnormality of cranial vault NOT_TRANSLATED -HP:0002683 Abnormality of cranium NOT_TRANSLATED -HP:0002683 Abnormality of the calvaria NOT_TRANSLATED -HP:0002683 Abnormality of the shape of calvarium NOT_TRANSLATED -HP:0002683 Abnormality of the skull cap NOT_TRANSLATED -HP:0002683 Abnormality of the skullcap NOT_TRANSLATED -HP:0002684 Calvarial thickening NOT_TRANSLATED -HP:0002684 Calvarium thickened NOT_TRANSLATED -HP:0002684 Increased calvarial thickness NOT_TRANSLATED -HP:0002684 Increased thickness of calvaria NOT_TRANSLATED -HP:0002684 Increased thickness of calvarium NOT_TRANSLATED -HP:0002684 Increased thickness of cranial vault NOT_TRANSLATED -HP:0002684 Increased thickness of cranium NOT_TRANSLATED -HP:0002684 Increased thickness of skull cap NOT_TRANSLATED -HP:0002684 Thick calvaria NOT_TRANSLATED -HP:0002684 Thick calvarium NOT_TRANSLATED -HP:0002684 Thickened calvarium NOT_TRANSLATED -HP:0002684 Thickened cranial vault NOT_TRANSLATED -HP:0002684 Thickened cranium NOT_TRANSLATED -HP:0002684 Thickened skull cap NOT_TRANSLATED -HP:0002684 Thickening of the calvaria NOT_TRANSLATED -HP:0002686 Maternal health problem NOT_TRANSLATED -HP:0002687 Abnormality of sinus frontalis NOT_TRANSLATED -HP:0002687 Abnormality of the forehead sinus NOT_TRANSLATED -HP:0002688 Absence of frontal sinuses NOT_TRANSLATED -HP:0002688 Absent frontal sinus NOT_TRANSLATED -HP:0002688 Aplasia of frontal sinus NOT_TRANSLATED -HP:0002688 Aplasia sinus frontalis NOT_TRANSLATED -HP:0002688 Missing frontal sinus NOT_TRANSLATED -HP:0002689 Absence of paranasal sinuses NOT_TRANSLATED -HP:0002689 Aplasia of paranasal sinuses NOT_TRANSLATED -HP:0002689 Missing paranasal sinuses NOT_TRANSLATED -HP:0002689 Missing sinuses NOT_TRANSLATED -HP:0002690 Big sella turcica NOT_TRANSLATED -HP:0002690 Enlarged sella turcica NOT_TRANSLATED -HP:0002690 Hyperplasia of hypophysial fossa NOT_TRANSLATED -HP:0002690 Hyperplasia of pituitary fossa NOT_TRANSLATED -HP:0002690 Hyperplasia of sella turcica NOT_TRANSLATED -HP:0002690 Large hypophysial fossa NOT_TRANSLATED -HP:0002690 Large pituitary fossa NOT_TRANSLATED -HP:0002690 Prominent sella turcica NOT_TRANSLATED -HP:0002691 Flattening of the skull base NOT_TRANSLATED -HP:0002691 Increased basal angle of skull base NOT_TRANSLATED -HP:0002691 Obtuse basal angle of skull base NOT_TRANSLATED -HP:0002692 Decreased size of facial bones NOT_TRANSLATED -HP:0002692 Decreased size of facial skeleton NOT_TRANSLATED -HP:0002692 Flattening of facial bones NOT_TRANSLATED -HP:0002692 Flattening of facial skeleton NOT_TRANSLATED -HP:0002692 Hypoplasia of facial skeleton NOT_TRANSLATED -HP:0002692 Hypotrophic facial bones NOT_TRANSLATED -HP:0002692 Hypotrophic facial skeleton NOT_TRANSLATED -HP:0002692 Small facial bones NOT_TRANSLATED -HP:0002692 Small facial skeleton NOT_TRANSLATED -HP:0002692 Underdevelopment of facial bones NOT_TRANSLATED -HP:0002692 Underdevelopment of facial skeleton NOT_TRANSLATED -HP:0002693 Abnormality of cranial base NOT_TRANSLATED -HP:0002694 Dense bone of skull base NOT_TRANSLATED -HP:0002694 HyperCalcification of skull base NOT_TRANSLATED -HP:0002694 HyperMineralization of skull base NOT_TRANSLATED -HP:0002694 Hyperossification of skull base NOT_TRANSLATED -HP:0002694 Hyperostosis of skull base NOT_TRANSLATED -HP:0002694 Marked sclerosis of skull base NOT_TRANSLATED -HP:0002694 Sclerosis of cranial base NOT_TRANSLATED -HP:0002694 Sclerosis of the skull base NOT_TRANSLATED -HP:0002694 Sclerotic skull base NOT_TRANSLATED -HP:0002696 Abnormality of the parietal bone NOT_TRANSLATED -HP:0002696 Abnormality of the parietal bone of skull NOT_TRANSLATED -HP:0002697 Holes in parietal bones NOT_TRANSLATED -HP:0002697 Openings in parietal bones NOT_TRANSLATED -HP:0002697 Persistent foramina of the parietal bones NOT_TRANSLATED -HP:0002697 Symmetrical, oval defects in the parietal bone NOT_TRANSLATED -HP:0002697 Symmetrical, oval parietal bone defects NOT_TRANSLATED -HP:0002699 Abnormality of the foramen magnum NOT_TRANSLATED -HP:0002700 Big foramen magnum NOT_TRANSLATED -HP:0002700 Dilation of foramen magnum NOT_TRANSLATED -HP:0002700 Enlarged foramen magnum NOT_TRANSLATED -HP:0002700 Increased circumference of foramen magnum NOT_TRANSLATED -HP:0002700 Increased diameter of foramen magnum NOT_TRANSLATED -HP:0002700 Wide foramen magnum NOT_TRANSLATED -HP:0002703 Abnormality of bone calcification of calvarium NOT_TRANSLATED -HP:0002703 Abnormality of bone calcification of cranium NOT_TRANSLATED -HP:0002703 Abnormality of bone calcification of skull NOT_TRANSLATED -HP:0002703 Abnormality of bone formation of calvarium NOT_TRANSLATED -HP:0002703 Abnormality of bone formation of cranium NOT_TRANSLATED -HP:0002703 Abnormality of bone mineralization of calvarium NOT_TRANSLATED -HP:0002703 Abnormality of bone mineralization of cranium NOT_TRANSLATED -HP:0002703 Abnormality of bone mineralization of skull NOT_TRANSLATED -HP:0002703 Abnormality of ossification of calvarium NOT_TRANSLATED -HP:0002703 Abnormality of ossification of cranium NOT_TRANSLATED -HP:0002703 Abnormality of skull bone formation NOT_TRANSLATED -HP:0002705 Gothic palate NOT_TRANSLATED -HP:0002705 High narrow palate NOT_TRANSLATED -HP:0002705 High vaulted palate NOT_TRANSLATED -HP:0002705 Narrow and high arched palate NOT_TRANSLATED -HP:0002705 Narrow, high-arched palate NOT_TRANSLATED -HP:0002705 Narrow, high-arched roof of mouth NOT_TRANSLATED -HP:0002705 Narrow, highly arched palate NOT_TRANSLATED -HP:0002705 Narrow, highly arched roof of mouth NOT_TRANSLATED -HP:0002707 Palatal angioectasia NOT_TRANSLATED -HP:0002707 Palatal spider veins NOT_TRANSLATED -HP:0002707 Palatal telangiectasia NOT_TRANSLATED -HP:0002707 Palate telangiectases NOT_TRANSLATED -HP:0002707 Palate teleangiectases NOT_TRANSLATED -HP:0002707 Spider veins of the roof of the mouth NOT_TRANSLATED -HP:0002707 Telangiectasia of the roof of the mouth NOT_TRANSLATED -HP:0002708 Prominent central palatal ridge NOT_TRANSLATED -HP:0002708 Prominent central ridge on roof of the mouth NOT_TRANSLATED -HP:0002708 Prominent medial palatal suture NOT_TRANSLATED -HP:0002710 Commissural labial pits NOT_TRANSLATED -HP:0002710 Commissural pit NOT_TRANSLATED -HP:0002710 Lip pits at corners of the mouth NOT_TRANSLATED -HP:0002710 Pits at the corners of the lips NOT_TRANSLATED -HP:0002711 Deep central lingual furrow NOT_TRANSLATED -HP:0002711 Deep central lingual groove NOT_TRANSLATED -HP:0002711 Deep central tongue furrow NOT_TRANSLATED -HP:0002711 Deep central tongue groove NOT_TRANSLATED -HP:0002711 Deep median lingual furrow NOT_TRANSLATED -HP:0002711 Deep median lingual groove NOT_TRANSLATED -HP:0002711 Deep median tongue furrow NOT_TRANSLATED -HP:0002711 Deep median tongue groove NOT_TRANSLATED -HP:0002711 Exaggerated median lingual furrow NOT_TRANSLATED -HP:0002714 Downturned corners of the mouth NOT_TRANSLATED -HP:0002714 Downturned mouth NOT_TRANSLATED -HP:0002714 Downturned oral commisures NOT_TRANSLATED -HP:0002715 Immunological abnormality NOT_TRANSLATED -HP:0002716 Lymph node hyperplasia NOT_TRANSLATED -HP:0002716 Swollen lymph nodes NOT_TRANSLATED -HP:0002718 Bacterial infections, recurrent NOT_TRANSLATED -HP:0002718 Frequent bacterial infections NOT_TRANSLATED -HP:0002718 Frequent pyogenic infections NOT_TRANSLATED -HP:0002718 Increased susceptibility to bacterial infections NOT_TRANSLATED -HP:0002718 Prone to bacterial infection NOT_TRANSLATED -HP:0002718 Recurrent major bacterial infections NOT_TRANSLATED -HP:0002718 Recurrent pyogenic infections NOT_TRANSLATED -HP:0002718 Susceptibility to pyogenic infection NOT_TRANSLATED -HP:0002719 Frequent infections NOT_TRANSLATED -HP:0002719 Frequent, severe infections NOT_TRANSLATED -HP:0002719 Increased frequency of infection NOT_TRANSLATED -HP:0002719 infections, recurrent NOT_TRANSLATED -HP:0002719 Predisposition to infections NOT_TRANSLATED -HP:0002719 Susceptibility to infection NOT_TRANSLATED -HP:0002720 Decreased IgA NOT_TRANSLATED -HP:0002720 Decreased immunoglobulin A NOT_TRANSLATED -HP:0002720 Gamma-A globulin deficiency NOT_TRANSLATED -HP:0002720 IgA deficiency NOT_TRANSLATED -HP:0002720 Low levels of immunoglobulin A NOT_TRANSLATED -HP:0002720 Reduced IgA levels NOT_TRANSLATED -HP:0002721 Decreased immune function NOT_TRANSLATED -HP:0002721 Immune deficiency NOT_TRANSLATED -HP:0002724 Aspergillus infections, recurrent NOT_TRANSLATED -HP:0002725 SLE NOT_TRANSLATED -HP:0002726 Staphylococcus aureus infections, recurrent NOT_TRANSLATED -HP:0002728 Chronic candidiasis of mucosa, skin and nails NOT_TRANSLATED -HP:0002728 Mucocutaneous candidiasis NOT_TRANSLATED -HP:0002731 Defective lymphocyte apoptosis NOT_TRANSLATED -HP:0002732 Small lymph nodes NOT_TRANSLATED -HP:0002733 Abnormal lymph node histology NOT_TRANSLATED -HP:0002733 Abnormality of the lymph nodes NOT_TRANSLATED -HP:0002737 Increased thickness of bone of skull base NOT_TRANSLATED -HP:0002737 Increased thickness of skull base NOT_TRANSLATED -HP:0002738 Decreased pneumatization of frontal sinus NOT_TRANSLATED -HP:0002738 Decreased volume of frontal sinuses NOT_TRANSLATED -HP:0002738 Hypotrophic frontal sinus NOT_TRANSLATED -HP:0002738 Small frontal sinuses NOT_TRANSLATED -HP:0002738 Underdeveloped frontal sinuses NOT_TRANSLATED -HP:0002740 E coli infections NOT_TRANSLATED -HP:0002740 E coli infections, recurrent NOT_TRANSLATED -HP:0002742 Klebsiella infections, recurrent NOT_TRANSLATED -HP:0002744 Bilateral cleft lip and cleft palate NOT_TRANSLATED -HP:0002744 Right and left cleft lip and palate NOT_TRANSLATED -HP:0002745 leukokeratosis NOT_TRANSLATED -HP:0002745 Oral idiopathic keratosis NOT_TRANSLATED -HP:0002745 Oral idiopathic leukoplakia NOT_TRANSLATED -HP:0002745 Oral idiopathic white patch NOT_TRANSLATED -HP:0002745 Oral leucoplakia NOT_TRANSLATED -HP:0002745 Oral leukokeratosis NOT_TRANSLATED -HP:0002745 Oral leukoplasia NOT_TRANSLATED -HP:0002745 Oral white patch NOT_TRANSLATED -HP:0002745 Oral white plaque NOT_TRANSLATED -HP:0002747 Decreased lung function due to weak breathing muscles NOT_TRANSLATED -HP:0002747 Decreased respiratory function due to muscle weakness NOT_TRANSLATED -HP:0002747 Respiratory distress due to muscle weakness NOT_TRANSLATED -HP:0002747 Respiratory failure due to muscle weakness NOT_TRANSLATED -HP:0002747 Respiratory muscle weakness NOT_TRANSLATED -HP:0002748 Weak and soft bones NOT_TRANSLATED -HP:0002749 Softening of the bones NOT_TRANSLATED -HP:0002750 Delayed bone age NOT_TRANSLATED -HP:0002750 Delayed bone age before puberty NOT_TRANSLATED -HP:0002750 Delayed bone maturation NOT_TRANSLATED -HP:0002750 Delayed skeletal development NOT_TRANSLATED -HP:0002750 Retarded bone age NOT_TRANSLATED -HP:0002750 Retarded ossification NOT_TRANSLATED -HP:0002750 Skeletal maturation retardation NOT_TRANSLATED -HP:0002753 Thin cortices NOT_TRANSLATED -HP:0002754 Bone infection NOT_TRANSLATED -HP:0002756 Pathologic fractures NOT_TRANSLATED -HP:0002756 Spontaneous fracture NOT_TRANSLATED -HP:0002756 Spontaneous fractures NOT_TRANSLATED -HP:0002757 Frequent fractures NOT_TRANSLATED -HP:0002757 Increased fracture rate NOT_TRANSLATED -HP:0002757 Increased fractures NOT_TRANSLATED -HP:0002757 Multiple fractures NOT_TRANSLATED -HP:0002757 Multiple spontaneous fractures NOT_TRANSLATED -HP:0002757 Varying degree of multiple fractures NOT_TRANSLATED -HP:0002758 Degenerative joint disease NOT_TRANSLATED -HP:0002761 Generalised joint laxity NOT_TRANSLATED -HP:0002761 Hypermobility of all joints NOT_TRANSLATED -HP:0002761 Joint laxity, generalised NOT_TRANSLATED -HP:0002761 Joint laxity, generalized NOT_TRANSLATED -HP:0002763 Abnormal shape of cartilage NOT_TRANSLATED -HP:0002763 Abnormality of cartilage morphology NOT_TRANSLATED -HP:0002777 Narrowing of windpipe NOT_TRANSLATED -HP:0002778 Abnormal trachea morphology NOT_TRANSLATED -HP:0002778 Abnormality of the trachea NOT_TRANSLATED -HP:0002778 Tracheal disease NOT_TRANSLATED -HP:0002779 Floppy windpipe NOT_TRANSLATED -HP:0002783 Chronic lung infections NOT_TRANSLATED -HP:0002783 Lower respiratory tract infections NOT_TRANSLATED -HP:0002783 Recurrent chest infections NOT_TRANSLATED -HP:0002787 Calcification of the trachea NOT_TRANSLATED -HP:0002787 Tracheal calcifications NOT_TRANSLATED -HP:0002787 Tracheal ectopic calcification NOT_TRANSLATED -HP:0002788 Frequent upper respiratory infections NOT_TRANSLATED -HP:0002788 Frequent upper respiratory tract infections NOT_TRANSLATED -HP:0002788 Recurrent colds NOT_TRANSLATED -HP:0002788 Recurrent upper respiratory and lower respiratory infections NOT_TRANSLATED -HP:0002788 Recurrent upper respiratory infection NOT_TRANSLATED -HP:0002788 Recurrent upper respiratory infections NOT_TRANSLATED -HP:0002788 Recurrent URI NOT_TRANSLATED -HP:0002788 Upper respiratory tract infections NOT_TRANSLATED -HP:0002788 Upper respiratory tract infections, recurrent NOT_TRANSLATED -HP:0002789 Increased respiratory rate or depth of breathing NOT_TRANSLATED -HP:0002789 Polypnea NOT_TRANSLATED -HP:0002790 Impaired breathing in newborn NOT_TRANSLATED -HP:0002791 Alveolar hypoventilation NOT_TRANSLATED -HP:0002791 Respiratory depression NOT_TRANSLATED -HP:0002791 Slow breathing NOT_TRANSLATED -HP:0002791 Under breathing NOT_TRANSLATED -HP:0002792 Decreased vital capacity NOT_TRANSLATED -HP:0002793 Abnormal respiratory patterns NOT_TRANSLATED -HP:0002793 Unusual breathing patterns NOT_TRANSLATED -HP:0002795 Abnormal respiration NOT_TRANSLATED -HP:0002795 Functional respiratory abnormality NOT_TRANSLATED -HP:0002795 Impaired pulmonary function NOT_TRANSLATED -HP:0002795 Respiratory problem NOT_TRANSLATED -HP:0002797 Breakdown of bone NOT_TRANSLATED -HP:0002797 Increased bone resorption NOT_TRANSLATED -HP:0002797 Osteolytic defects of bones NOT_TRANSLATED -HP:0002803 congenital contractures NOT_TRANSLATED -HP:0002803 Congenital joint contractures NOT_TRANSLATED -HP:0002804 Arthrogryposis NOT_TRANSLATED -HP:0002804 Arthrogryposis multiplex NOT_TRANSLATED -HP:0002804 Arthrogryposis, congenital NOT_TRANSLATED -HP:0002804 Multiple congenital contractures NOT_TRANSLATED -HP:0002808 Gibbus deformity NOT_TRANSLATED -HP:0002808 Hunched back NOT_TRANSLATED -HP:0002808 Hyperkyphosis NOT_TRANSLATED -HP:0002808 Round back NOT_TRANSLATED -HP:0002810 Dumbbell shaped metaphyses NOT_TRANSLATED -HP:0002810 Dumbbell shaped metaphysis NOT_TRANSLATED -HP:0002810 Dumbbell shaped wide portion of long bone NOT_TRANSLATED -HP:0002813 Abnormal shape of limb bone NOT_TRANSLATED -HP:0002813 Arm and/or leg bone differences NOT_TRANSLATED -HP:0002813 Limb abnormality NOT_TRANSLATED -HP:0002814 Abnormality of the leg NOT_TRANSLATED -HP:0002814 Lower limb deformities NOT_TRANSLATED -HP:0002816 Back knee NOT_TRANSLATED -HP:0002816 Genu recurvata NOT_TRANSLATED -HP:0002816 Knee hyperextension NOT_TRANSLATED -HP:0002817 Abnormality of the arm NOT_TRANSLATED -HP:0002818 Abnormality of the radius NOT_TRANSLATED -HP:0002821 Charcot arthropathy NOT_TRANSLATED -HP:0002821 Charcot joint NOT_TRANSLATED -HP:0002822 Hyperplastic femoral trochanters NOT_TRANSLATED -HP:0002823 Abnormality of the femora NOT_TRANSLATED -HP:0002823 Abnormality of the thighbone NOT_TRANSLATED -HP:0002825 Coccygeal tail NOT_TRANSLATED -HP:0002825 Human tail NOT_TRANSLATED -HP:0002826 Halberd-shaped pelvis bone NOT_TRANSLATED -HP:0002827 Dislocated hips NOT_TRANSLATED -HP:0002827 Dislocation of hip NOT_TRANSLATED -HP:0002829 Arthralgias NOT_TRANSLATED -HP:0002829 Arthritic pain NOT_TRANSLATED -HP:0002829 Joint pain NOT_TRANSLATED -HP:0002829 Joint pains NOT_TRANSLATED -HP:0002831 Long tailbone NOT_TRANSLATED -HP:0002832 Discrete calcific stippling NOT_TRANSLATED -HP:0002833 Lytic cystic lesions in appendicular bones NOT_TRANSLATED -HP:0002834 Flared metaphysis of thigh bone NOT_TRANSLATED -HP:0002835 Pulmonary aspiration NOT_TRANSLATED -HP:0002836 Ectopia vesicae NOT_TRANSLATED -HP:0002837 Bronchitis, recurrent NOT_TRANSLATED -HP:0002839 Sphincter disturbance NOT_TRANSLATED -HP:0002839 Sphincter disturbances NOT_TRANSLATED -HP:0002840 Inflammation of the lymph nodes NOT_TRANSLATED -HP:0002843 Abnormal T cells NOT_TRANSLATED -HP:0002843 Abnormality of T cells NOT_TRANSLATED -HP:0002843 Cellular immune defect NOT_TRANSLATED -HP:0002843 Defective cellular immunity NOT_TRANSLATED -HP:0002846 Abnormal B cells NOT_TRANSLATED -HP:0002846 Abnormality of B cells NOT_TRANSLATED -HP:0002848 Depressed antibody response to polysaccharide antigens NOT_TRANSLATED -HP:0002848 Low specific anti-polysaccharide antibody titer NOT_TRANSLATED -HP:0002848 Specific anti-polysaccharide antibody deficiency NOT_TRANSLATED -HP:0002849 Absence of lymph node germinal centre NOT_TRANSLATED -HP:0002849 Lymph nodes lack germinal center NOT_TRANSLATED -HP:0002849 Lymph nodes lack germinal centre NOT_TRANSLATED -HP:0002849 Lymphoid germinal center defect NOT_TRANSLATED -HP:0002849 Lymphoid germinal centre defect NOT_TRANSLATED -HP:0002850 Decreased IgM NOT_TRANSLATED -HP:0002850 Decreased IgM level NOT_TRANSLATED -HP:0002850 IgM deficiency NOT_TRANSLATED -HP:0002850 Reduced IgM levels NOT_TRANSLATED -HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors NOT_TRANSLATED -HP:0002857 Genu valga NOT_TRANSLATED -HP:0002857 Genu valgus NOT_TRANSLATED -HP:0002857 Genua valga NOT_TRANSLATED -HP:0002857 Knee joint valgus deformity NOT_TRANSLATED -HP:0002857 Knock knees NOT_TRANSLATED -HP:0002858 Noncancerous growth of membranes covering brain NOT_TRANSLATED -HP:0002860 Squamous cell cancer NOT_TRANSLATED -HP:0002861 Cancer of skin pigment cells NOT_TRANSLATED -HP:0002861 Malignant melanoma NOT_TRANSLATED -HP:0002861 Skin cancer (melanoma) NOT_TRANSLATED -HP:0002863 Hypoplastic myelodysplasia NOT_TRANSLATED -HP:0002863 Myelodysplastic syndrome NOT_TRANSLATED -HP:0002864 Paragangliomas, head and neck NOT_TRANSLATED -HP:0002865 Medullary thyroid cancer NOT_TRANSLATED -HP:0002866 Hypoplastic iliac alae NOT_TRANSLATED -HP:0002866 Hypoplastic iliac wings NOT_TRANSLATED -HP:0002866 Small iliac wings NOT_TRANSLATED -HP:0002867 Abnormality of the ilium NOT_TRANSLATED -HP:0002867 Iliac abnormalities NOT_TRANSLATED -HP:0002868 Narrow iliac wings NOT_TRANSLATED -HP:0002869 Flared iliac wings NOT_TRANSLATED -HP:0002870 Obstructive sleep apnoea NOT_TRANSLATED -HP:0002871 Central apnoea NOT_TRANSLATED -HP:0002872 Episodic apnea induced by febrile illness or stress NOT_TRANSLATED -HP:0002875 Exertional breathlessness NOT_TRANSLATED -HP:0002875 Exertional dyspnoea NOT_TRANSLATED -HP:0002875 Shortness of breathing upon physical activity NOT_TRANSLATED -HP:0002876 Hyperpnea, episodic NOT_TRANSLATED -HP:0002877 Hypoventilation during sleep NOT_TRANSLATED -HP:0002877 Nocturnal hypopnea NOT_TRANSLATED -HP:0002877 Nocturnal slow breathing NOT_TRANSLATED -HP:0002877 Nocturnal under breathing NOT_TRANSLATED -HP:0002883 Rapid breathing NOT_TRANSLATED -HP:0002886 Glomus vagale paraganglioma NOT_TRANSLATED -HP:0002886 Glomus vagale tumor NOT_TRANSLATED -HP:0002886 Glomus vagale tumour NOT_TRANSLATED -HP:0002886 Vagal nerve tumors NOT_TRANSLATED -HP:0002886 Vagal nerve tumours NOT_TRANSLATED -HP:0002893 Noncancerous tumor in pituitary gland NOT_TRANSLATED -HP:0002893 Noncancerous tumour in pituitary gland NOT_TRANSLATED -HP:0002893 Pituitary gland adenoma NOT_TRANSLATED -HP:0002894 Cancer of the pancreas NOT_TRANSLATED -HP:0002894 increased risk of pancreatic cancer NOT_TRANSLATED -HP:0002894 Neoplasia of the pancreas NOT_TRANSLATED -HP:0002894 Pancreatic cancer NOT_TRANSLATED -HP:0002894 Pancreatic tumor NOT_TRANSLATED -HP:0002894 Pancreatic tumour NOT_TRANSLATED -HP:0002895 Papillary carcinoma of thyroid NOT_TRANSLATED -HP:0002895 Thyroid papillary carcinoma NOT_TRANSLATED -HP:0002896 Liver cancer NOT_TRANSLATED -HP:0002896 Liver tumor NOT_TRANSLATED -HP:0002896 Liver tumour NOT_TRANSLATED -HP:0002897 Parathyroid adenomas NOT_TRANSLATED -HP:0002898 Embryonal neoplasia NOT_TRANSLATED -HP:0002898 Embryonal tumors NOT_TRANSLATED -HP:0002898 Embryonal tumours NOT_TRANSLATED -HP:0002900 Low blood potassium levels NOT_TRANSLATED -HP:0002901 Hypocalcaemia NOT_TRANSLATED -HP:0002901 Low blood calcium levels NOT_TRANSLATED -HP:0002902 Low blood sodium levels NOT_TRANSLATED -HP:0002904 High blood bilirubin levels NOT_TRANSLATED -HP:0002905 High blood phosphate levels NOT_TRANSLATED -HP:0002907 Microhematuria NOT_TRANSLATED -HP:0002907 Occult hematuria NOT_TRANSLATED -HP:0002907 Small amount of blood in urine NOT_TRANSLATED -HP:0002908 Direct hyperbilirubinemia NOT_TRANSLATED -HP:0002909 Generalised aminoaciduria NOT_TRANSLATED -HP:0002909 Generalised nonspecific aminoaciduria NOT_TRANSLATED -HP:0002909 Generalized nonspecific aminoaciduria NOT_TRANSLATED -HP:0002910 Abnormal liver enzymes NOT_TRANSLATED -HP:0002910 Abnormal liver function NOT_TRANSLATED -HP:0002910 Abnormal liver function tests NOT_TRANSLATED -HP:0002910 Elevated liver enzymes NOT_TRANSLATED -HP:0002910 Elevated liver function tests NOT_TRANSLATED -HP:0002910 Elevated serum transaminases NOT_TRANSLATED -HP:0002910 Elevated transaminases NOT_TRANSLATED -HP:0002910 High liver enzymes NOT_TRANSLATED -HP:0002910 Increased liver enzymes NOT_TRANSLATED -HP:0002910 Increased liver function tests NOT_TRANSLATED -HP:0002910 Increased transaminases NOT_TRANSLATED -HP:0002910 Raised liver enzymes NOT_TRANSLATED -HP:0002910 Subclinical abnormal liver function tests NOT_TRANSLATED -HP:0002912 Elevated circulating methylmalonic acid concentration NOT_TRANSLATED -HP:0002914 Increased urinary chloride NOT_TRANSLATED -HP:0002917 Low blood magnesium levels NOT_TRANSLATED -HP:0002917 Low blood Mg levels NOT_TRANSLATED -HP:0002918 High blood magnesium levels NOT_TRANSLATED -HP:0002918 High blood Mg levels NOT_TRANSLATED -HP:0002919 Acetonuria NOT_TRANSLATED -HP:0002919 Ketoaciduria NOT_TRANSLATED -HP:0002919 Ketonaciduria NOT_TRANSLATED -HP:0002919 Ketone bodies in urine NOT_TRANSLATED -HP:0002921 Abnormal CSF findings NOT_TRANSLATED -HP:0002921 Abnormality of the cerebrospinal fluid NOT_TRANSLATED -HP:0002921 Abnormality of the CSF NOT_TRANSLATED -HP:0002922 Cerebrospinal fluid protein increased NOT_TRANSLATED -HP:0002922 Cerebrospinal fluid with increased protein NOT_TRANSLATED -HP:0002922 Elevated cerebrospinal fluid protein NOT_TRANSLATED -HP:0002922 Elevated csf protein NOT_TRANSLATED -HP:0002922 Hyperproteinorrhachia NOT_TRANSLATED -HP:0002922 Increased CSF protein NOT_TRANSLATED -HP:0002922 Increased protein in csf NOT_TRANSLATED -HP:0002922 Spinal fluid protein elevated NOT_TRANSLATED -HP:0002925 Elevated thyroid stimulating hormone NOT_TRANSLATED -HP:0002925 Elevated thyroid stimulating hormone levels NOT_TRANSLATED -HP:0002925 High TSH NOT_TRANSLATED -HP:0002925 Increased serum thyroid-stimulating hormone NOT_TRANSLATED -HP:0002925 Increased thyroid-stimulating hormone NOT_TRANSLATED -HP:0002925 Increased thyroid-stimulating hormone level NOT_TRANSLATED -HP:0002925 Increased thyrotropin level NOT_TRANSLATED -HP:0002925 Thyroid-stimulating hormone excess NOT_TRANSLATED -HP:0002925 TSH excess NOT_TRANSLATED -HP:0002926 Abnormal thyroid function NOT_TRANSLATED -HP:0002927 Elevated histidine in urine NOT_TRANSLATED -HP:0002927 High urine histidine levels NOT_TRANSLATED -HP:0002928 Decreased activity of the PDH complex NOT_TRANSLATED -HP:0002928 Pyruvate dehydrogenase complex deficiency NOT_TRANSLATED -HP:0002930 Elevated serum levels of free thyroid hormone with nonsuppressed TSH NOT_TRANSLATED -HP:0002930 End-organ unresponsiveness to thyroid hormone NOT_TRANSLATED -HP:0002930 Resistance to thyroid hormone NOT_TRANSLATED -HP:0002930 Thyroid hormone receptor defect NOT_TRANSLATED -HP:0002930 Thyroid hormone resistance NOT_TRANSLATED -HP:0002936 Decreased distal sensation NOT_TRANSLATED -HP:0002936 Decreased sensation in extremities NOT_TRANSLATED -HP:0002936 Distal sensation loss NOT_TRANSLATED -HP:0002936 Distal sensory impairment in lower limbs NOT_TRANSLATED -HP:0002936 Distal sensory impairment of the lower extremities NOT_TRANSLATED -HP:0002936 Distal sensory loss NOT_TRANSLATED -HP:0002936 Distal sensory loss, upper and lower limbs NOT_TRANSLATED -HP:0002936 Loss of distal sensation NOT_TRANSLATED -HP:0002937 Hemi-vertebrae NOT_TRANSLATED -HP:0002937 Hemivertebra NOT_TRANSLATED -HP:0002937 Missing part of vertebrae NOT_TRANSLATED -HP:0002938 Exaggerated lumbar lordosis NOT_TRANSLATED -HP:0002938 Excessive inward curvature of lower spine NOT_TRANSLATED -HP:0002938 Increased lumbar lordosis NOT_TRANSLATED -HP:0002938 Lumbar lordosis NOT_TRANSLATED -HP:0002938 Prominent lumbar lordosis NOT_TRANSLATED -HP:0002942 Accentuated thoracic kyphosis NOT_TRANSLATED -HP:0002942 Exaggerated thoracic kyphosis NOT_TRANSLATED -HP:0002944 Scoliosis, thoracolumbar NOT_TRANSLATED -HP:0002945 Narrow intervertebral disc spaces NOT_TRANSLATED -HP:0002945 Narrow intervertebral spaces NOT_TRANSLATED -HP:0002947 Rounded neck NOT_TRANSLATED -HP:0002948 Fused vertebrae NOT_TRANSLATED -HP:0002948 Fusion of vertebral bodies NOT_TRANSLATED -HP:0002948 Spinal fusion NOT_TRANSLATED -HP:0002948 Vertebral body fusion NOT_TRANSLATED -HP:0002949 Cervical spine fusion NOT_TRANSLATED -HP:0002949 Cervical vertebral fusion NOT_TRANSLATED -HP:0002949 Fused neck NOT_TRANSLATED -HP:0002949 Fusion of cervical vertebrae NOT_TRANSLATED -HP:0002953 Compression fracture of a vertebral body NOT_TRANSLATED -HP:0002953 Fractures of vertebral bodies NOT_TRANSLATED -HP:0002953 Vertebral body compression NOT_TRANSLATED -HP:0002953 Vertebral collapse NOT_TRANSLATED -HP:0002953 Vertebral compression NOT_TRANSLATED -HP:0002953 Vertebral compression fractures NOT_TRANSLATED -HP:0002953 Vertebral compression or collapse NOT_TRANSLATED -HP:0002958 Unregulated immune response NOT_TRANSLATED -HP:0002959 Impaired B-lymphocyte isotype switching NOT_TRANSLATED -HP:0002960 Autoimmune condition NOT_TRANSLATED -HP:0002960 Autoimmune disease NOT_TRANSLATED -HP:0002960 Autoimmune disorder NOT_TRANSLATED -HP:0002965 Absence of delayed hypersensitivity skin test NOT_TRANSLATED -HP:0002965 Lack of delayed skin hypersensitivity reaction NOT_TRANSLATED -HP:0002967 Outward turned elbows NOT_TRANSLATED -HP:0002970 Genu vara NOT_TRANSLATED -HP:0002970 Genua vara NOT_TRANSLATED -HP:0002970 Outward bow-leggedness NOT_TRANSLATED -HP:0002970 Outward bowing at knees NOT_TRANSLATED -HP:0002972 Decreased reactivity to skin test antigens NOT_TRANSLATED -HP:0002972 Deficiency of delayed skin hypersensitivity NOT_TRANSLATED -HP:0002972 Impaired delayed hypersensitivity NOT_TRANSLATED -HP:0002973 Abnormality of the forearm NOT_TRANSLATED -HP:0002974 Fused forearm bones NOT_TRANSLATED -HP:0002977 Absent/underdeveloped central nervous system tissue NOT_TRANSLATED -HP:0002977 Aplasia/Hypoplasia involving the CNS NOT_TRANSLATED -HP:0002979 Bow legs NOT_TRANSLATED -HP:0002979 Bow-leggedness NOT_TRANSLATED -HP:0002979 Bowed legs NOT_TRANSLATED -HP:0002979 Bowed lower limbs NOT_TRANSLATED -HP:0002980 Bowed femur NOT_TRANSLATED -HP:0002980 Bowed femura NOT_TRANSLATED -HP:0002980 Bowed femurs NOT_TRANSLATED -HP:0002980 Bowed thighbone NOT_TRANSLATED -HP:0002982 Bowed shankbone NOT_TRANSLATED -HP:0002982 Bowed shinbone NOT_TRANSLATED -HP:0002982 Bowed tibia NOT_TRANSLATED -HP:0002982 Bowing of the tibia NOT_TRANSLATED -HP:0002983 Smaller or shorter than typical limbs NOT_TRANSLATED -HP:0002984 Hypoplastic radii NOT_TRANSLATED -HP:0002984 Hypoplastic radius NOT_TRANSLATED -HP:0002984 Radial hypoplasia NOT_TRANSLATED -HP:0002984 Radial ray hypoplasia NOT_TRANSLATED -HP:0002984 Short radii NOT_TRANSLATED -HP:0002984 Short radius NOT_TRANSLATED -HP:0002984 Shortening of radius NOT_TRANSLATED -HP:0002984 Underdeveloped outer large forearm bone NOT_TRANSLATED -HP:0002986 Bowed radii NOT_TRANSLATED -HP:0002986 Bowed radius NOT_TRANSLATED -HP:0002986 Bowing of outer large bone of the forearm NOT_TRANSLATED -HP:0002986 Bowing of radius bone of the forearm NOT_TRANSLATED -HP:0002987 Elbow flexion contractures NOT_TRANSLATED -HP:0002987 Elbow flexion deformity NOT_TRANSLATED -HP:0002987 Fixed flexion at the elbow joint NOT_TRANSLATED -HP:0002990 Absent calf bone NOT_TRANSLATED -HP:0002990 Absent fibulae NOT_TRANSLATED -HP:0002990 Absent-hypoplastic fibulae NOT_TRANSLATED -HP:0002991 Abnormality of the calf bone NOT_TRANSLATED -HP:0002992 Abnormality of the shankbone NOT_TRANSLATED -HP:0002992 Abnormality of the shinbone NOT_TRANSLATED -HP:0002996 Decreased elbow mobility NOT_TRANSLATED -HP:0002996 Limited elbow mobility NOT_TRANSLATED -HP:0002996 Restricted elbow motion NOT_TRANSLATED -HP:0002999 Dislocated kneecap NOT_TRANSLATED -HP:0002999 Dislocated patellae NOT_TRANSLATED -HP:0002999 Dislocation of patella NOT_TRANSLATED -HP:0003001 Glomus jugular tumour NOT_TRANSLATED -HP:0003001 Glomus jugulare tumor NOT_TRANSLATED -HP:0003001 Glomus jugulare tumors NOT_TRANSLATED -HP:0003001 Glomus jugulare tumour NOT_TRANSLATED -HP:0003001 Glomus jugulare tumours NOT_TRANSLATED -HP:0003002 Breast cancer NOT_TRANSLATED -HP:0003006 Cancer of early nerve cells NOT_TRANSLATED -HP:0003010 Increased bleeding time NOT_TRANSLATED -HP:0003011 Muscular abnormality NOT_TRANSLATED -HP:0003013 Bulging end part of bone NOT_TRANSLATED -HP:0003015 Flared wide portion of long bone NOT_TRANSLATED -HP:0003015 Flared, widened metaphyses NOT_TRANSLATED -HP:0003015 marked metaphyseal flaring of long bones NOT_TRANSLATED -HP:0003015 Metaphyseal flaring NOT_TRANSLATED -HP:0003015 Metaphyseal flaring of long bones NOT_TRANSLATED -HP:0003015 Metaphyseal splaying NOT_TRANSLATED -HP:0003015 Metaphyses flared NOT_TRANSLATED -HP:0003015 Splayed metaphyses NOT_TRANSLATED -HP:0003016 Broad wide portion of long bone NOT_TRANSLATED -HP:0003016 Wide metaphyses NOT_TRANSLATED -HP:0003016 Widened long bone metaphyses NOT_TRANSLATED -HP:0003016 Widened metaphyses NOT_TRANSLATED -HP:0003019 Abnormalities of the wrists NOT_TRANSLATED -HP:0003022 Hypoplastic ulna NOT_TRANSLATED -HP:0003022 Short ulna NOT_TRANSLATED -HP:0003022 Short ulnae NOT_TRANSLATED -HP:0003022 Ulnar hypoplasia NOT_TRANSLATED -HP:0003022 Underdeveloped inner large forearm bone NOT_TRANSLATED -HP:0003022 Underdeveloped ulna NOT_TRANSLATED -HP:0003023 Bowed limbs due to multiple fractures NOT_TRANSLATED -HP:0003025 Frayed, irregular metaphyses NOT_TRANSLATED -HP:0003025 Frayed, irregular, metaphyses NOT_TRANSLATED -HP:0003025 Irregular metaphyses NOT_TRANSLATED -HP:0003025 Irregular wide portion of a long bone NOT_TRANSLATED -HP:0003025 Metaphyseal fraying NOT_TRANSLATED -HP:0003025 Metaphyseal irregularities NOT_TRANSLATED -HP:0003026 Long bone shortening NOT_TRANSLATED -HP:0003026 Short tubular bones NOT_TRANSLATED -HP:0003026 shortened long tubular bones NOT_TRANSLATED -HP:0003027 Disproportionately short middle portion of limb NOT_TRANSLATED -HP:0003027 Mesomelic limb shortening NOT_TRANSLATED -HP:0003027 Mesomelic shortening of limbs NOT_TRANSLATED -HP:0003027 Symmetric mesomelic limb shortness NOT_TRANSLATED -HP:0003031 Bowed ulna NOT_TRANSLATED -HP:0003031 Curved ulna NOT_TRANSLATED -HP:0003031 Curving of inner forearm bone NOT_TRANSLATED -HP:0003034 Craniodiaphyseal osteosclerosis NOT_TRANSLATED -HP:0003034 Diaphyseal osteosclerosis NOT_TRANSLATED -HP:0003034 Increased bone density in shaft of long bone NOT_TRANSLATED -HP:0003037 Prominent joints NOT_TRANSLATED -HP:0003038 Hypoplastic fibula NOT_TRANSLATED -HP:0003038 Short calf bone NOT_TRANSLATED -HP:0003038 Short fibula NOT_TRANSLATED -HP:0003038 Short fibulae NOT_TRANSLATED -HP:0003040 Disease of the joints NOT_TRANSLATED -HP:0003041 Fusion of upper and lower arm bones NOT_TRANSLATED -HP:0003041 Humeral radial synostosis NOT_TRANSLATED -HP:0003041 Humeral-radial synostosis NOT_TRANSLATED -HP:0003041 Radiohumeral synostosis of elbow NOT_TRANSLATED -HP:0003041 Synostosis of radius and humerus NOT_TRANSLATED -HP:0003042 Dislocations of the elbows NOT_TRANSLATED -HP:0003042 Elbow dislocations NOT_TRANSLATED -HP:0003042 Radiocapitellar dislocation NOT_TRANSLATED -HP:0003042 Radiohumeral dislocation NOT_TRANSLATED -HP:0003042 Ulnohumeral dislocation NOT_TRANSLATED -HP:0003043 Abnormality of the shoulder NOT_TRANSLATED -HP:0003045 Abnormal kneecap NOT_TRANSLATED -HP:0003045 Abnormality of the patella NOT_TRANSLATED -HP:0003045 Patellar abnormality NOT_TRANSLATED -HP:0003048 Radial subluxation NOT_TRANSLATED -HP:0003048 Radial-head subluxation NOT_TRANSLATED -HP:0003049 Ulnar deviation of wrists NOT_TRANSLATED -HP:0003051 Enlarged wide portion of a long bone NOT_TRANSLATED -HP:0003057 Tetra-amelia NOT_TRANSLATED -HP:0003063 Abnormality of the humeri NOT_TRANSLATED -HP:0003065 Hypoplastic patellae NOT_TRANSLATED -HP:0003065 Small kneecap NOT_TRANSLATED -HP:0003065 Small patella NOT_TRANSLATED -HP:0003065 Small patellae NOT_TRANSLATED -HP:0003065 Underdeveloped kneecap NOT_TRANSLATED -HP:0003067 Madelung wrist deformity NOT_TRANSLATED -HP:0003071 Flat end part of bone NOT_TRANSLATED -HP:0003071 Flat epiphyses NOT_TRANSLATED -HP:0003072 High blood calcium levels NOT_TRANSLATED -HP:0003072 Hypercalcaemia NOT_TRANSLATED -HP:0003072 Increased calcium in blood NOT_TRANSLATED -HP:0003073 Hypoalbuminaemia NOT_TRANSLATED -HP:0003073 Low albumin NOT_TRANSLATED -HP:0003073 Low blood albumin NOT_TRANSLATED -HP:0003074 High blood glucose NOT_TRANSLATED -HP:0003074 High blood sugar NOT_TRANSLATED -HP:0003075 Decreased protein levels in blood NOT_TRANSLATED -HP:0003076 Glucose in urine NOT_TRANSLATED -HP:0003076 Glucosuria NOT_TRANSLATED -HP:0003077 Elevated lipids in blood NOT_TRANSLATED -HP:0003080 Elevated urinary hydroxyproline NOT_TRANSLATED -HP:0003081 Hyperkaliuresis NOT_TRANSLATED -HP:0003081 Increased urinary K NOT_TRANSLATED -HP:0003083 Congenital radial head dislocation NOT_TRANSLATED -HP:0003083 Dislocated radial heads NOT_TRANSLATED -HP:0003083 Dislocated radius NOT_TRANSLATED -HP:0003083 Dislocation of radial head NOT_TRANSLATED -HP:0003083 Dislocation of the radial head NOT_TRANSLATED -HP:0003083 Radial dislocation NOT_TRANSLATED -HP:0003083 Radial head dislocation NOT_TRANSLATED -HP:0003083 Radial head dislocation/subluxation NOT_TRANSLATED -HP:0003084 Increased long bone fracture rate NOT_TRANSLATED -HP:0003085 Disproportionately long fibula NOT_TRANSLATED -HP:0003085 Long calf bone NOT_TRANSLATED -HP:0003088 Premature arthritis NOT_TRANSLATED -HP:0003090 Small capital femoral epiphyses NOT_TRANSLATED -HP:0003090 Small femoral capital epiphyses NOT_TRANSLATED -HP:0003090 Small innermost thighbone end part NOT_TRANSLATED -HP:0003090 Small proximal femoral epiphyses NOT_TRANSLATED -HP:0003090 Underdevelopment of the innermost thighbone end part NOT_TRANSLATED -HP:0003093 Restricted hip extension NOT_TRANSLATED -HP:0003095 Infected joint NOT_TRANSLATED -HP:0003097 Femoral hypoplasia NOT_TRANSLATED -HP:0003097 Hypoplasia of the femora NOT_TRANSLATED -HP:0003097 Short femurs NOT_TRANSLATED -HP:0003097 Short thighbone NOT_TRANSLATED -HP:0003099 Overgrowth of calf bone NOT_TRANSLATED -HP:0003100 Gracile long bones NOT_TRANSLATED -HP:0003100 Long bones slender NOT_TRANSLATED -HP:0003100 Slender long bones NOT_TRANSLATED -HP:0003100 Slender, gracile long tubular bones NOT_TRANSLATED -HP:0003100 Thin gracile long bones NOT_TRANSLATED -HP:0003100 Thin long bones NOT_TRANSLATED -HP:0003100 Thin, gracile long bones NOT_TRANSLATED -HP:0003103 Abnormal compact bone morphology NOT_TRANSLATED -HP:0003103 Abnormality of cortical bone NOT_TRANSLATED -HP:0003106 Subperiosteal erosions NOT_TRANSLATED -HP:0003107 Abnormal cholesterol homeostasis NOT_TRANSLATED -HP:0003107 Abnormality of cholesterol metabolism NOT_TRANSLATED -HP:0003108 Glycinuria NOT_TRANSLATED -HP:0003108 High urine glycine levels NOT_TRANSLATED -HP:0003109 High urine phosphate levels NOT_TRANSLATED -HP:0003109 Phosphaturia NOT_TRANSLATED -HP:0003110 Pee issues NOT_TRANSLATED -HP:0003110 Urine issues NOT_TRANSLATED -HP:0003111 Abnormality of ion homeostasis NOT_TRANSLATED -HP:0003111 Electrolyte disorders NOT_TRANSLATED -HP:0003111 Electrolyte disturbance NOT_TRANSLATED -HP:0003112 Abnormality of serum amino acid level NOT_TRANSLATED -HP:0003112 Abnormality of serum amino acid levels NOT_TRANSLATED -HP:0003113 Low blood chloride levels NOT_TRANSLATED -HP:0003115 Abnormal ECG NOT_TRANSLATED -HP:0003115 Abnormal electrocardiogram NOT_TRANSLATED -HP:0003115 EKG abnormality NOT_TRANSLATED -HP:0003117 Abnormal circulating hormone level NOT_TRANSLATED -HP:0003117 Abnormality of circulating hormone level NOT_TRANSLATED -HP:0003118 Cushing syndrome NOT_TRANSLATED -HP:0003118 Hypercortisolism NOT_TRANSLATED -HP:0003118 Increased cortisol production NOT_TRANSLATED -HP:0003119 Dyslipidaemia NOT_TRANSLATED -HP:0003119 Dyslipidemia NOT_TRANSLATED -HP:0003121 Limb contractures NOT_TRANSLATED -HP:0003124 Elevated serum cholesterol NOT_TRANSLATED -HP:0003124 Elevated total cholesterol NOT_TRANSLATED -HP:0003124 High cholesterol NOT_TRANSLATED -HP:0003124 Increased total cholesterol NOT_TRANSLATED -HP:0003125 Factor VIII deficiency NOT_TRANSLATED -HP:0003126 Tubular proteinuria NOT_TRANSLATED -HP:0003127 Low urine calcium levels NOT_TRANSLATED -HP:0003128 Hyperlacticacidemia NOT_TRANSLATED -HP:0003128 Increased lactate in body NOT_TRANSLATED -HP:0003128 Lactic acidemia NOT_TRANSLATED -HP:0003128 Lacticacidemia NOT_TRANSLATED -HP:0003128 Lacticacidosis NOT_TRANSLATED -HP:0003131 High urine cystine levels NOT_TRANSLATED -HP:0003134 Abnormal peripheral nerve transmission NOT_TRANSLATED -HP:0003134 Sensory and motor nerve conduction abnormalities NOT_TRANSLATED -HP:0003138 Increased BUN NOT_TRANSLATED -HP:0003139 Panhypogammaglobulinaemia NOT_TRANSLATED -HP:0003139 Panypogammaglobulinemia NOT_TRANSLATED -HP:0003141 Hyperbetalipoproteinemia NOT_TRANSLATED -HP:0003141 Increased beta-lipoproteins NOT_TRANSLATED -HP:0003141 Increased circulating LDL level NOT_TRANSLATED -HP:0003141 Increased circulating low-density lipoprotein cholesterol NOT_TRANSLATED -HP:0003141 Increased circulating low-density lipoprotein levels NOT_TRANSLATED -HP:0003141 Increased LDL cholesterol NOT_TRANSLATED -HP:0003141 Increased LDLc concentration NOT_TRANSLATED -HP:0003141 Increased plasma LDL levels NOT_TRANSLATED -HP:0003145 Decreased ADOCBL NOT_TRANSLATED -HP:0003146 Decreased circulating cholesterol level NOT_TRANSLATED -HP:0003148 Acid phosphatase elevated NOT_TRANSLATED -HP:0003149 High urine uric acid level NOT_TRANSLATED -HP:0003149 Increased urinary urate NOT_TRANSLATED -HP:0003150 Glutarate aciduria NOT_TRANSLATED -HP:0003150 Glutaricaciduria NOT_TRANSLATED -HP:0003150 Increased glutarate level in urine NOT_TRANSLATED -HP:0003153 High urine cystathionine levels NOT_TRANSLATED -HP:0003154 High blood corticotropin levels NOT_TRANSLATED -HP:0003154 Increased plasma ACTH NOT_TRANSLATED -HP:0003155 Elevated alkaline phosphatase NOT_TRANSLATED -HP:0003155 Elevated ALP NOT_TRANSLATED -HP:0003155 Greatly elevated alkaline phosphatase NOT_TRANSLATED -HP:0003155 High serum alkaline phosphatase NOT_TRANSLATED -HP:0003155 Hyperphosphatasemia NOT_TRANSLATED -HP:0003155 Hyperphosphatasia NOT_TRANSLATED -HP:0003155 Increased alkaline phosphatase NOT_TRANSLATED -HP:0003155 Increased serum alkaline phosphatase NOT_TRANSLATED -HP:0003158 Reduced urinary osmolality NOT_TRANSLATED -HP:0003159 High urine oxalate levels NOT_TRANSLATED -HP:0003159 Increased level of oxalate in urine NOT_TRANSLATED -HP:0003160 Abnormal isoelectric focusing of transferrin NOT_TRANSLATED -HP:0003160 Abnormal transferrin isoelectric focusing NOT_TRANSLATED -HP:0003161 Hydroxyphenylpyruvic aciduria NOT_TRANSLATED -HP:0003162 Low blood sugar when fasting NOT_TRANSLATED -HP:0003164 Hypothalamic GNRH deficiency NOT_TRANSLATED -HP:0003165 Elevated circulating PTH level NOT_TRANSLATED -HP:0003165 Elevated serum parathyroid hormone NOT_TRANSLATED -HP:0003165 Elevated serum parathyroid hormone level NOT_TRANSLATED -HP:0003165 Elevated serum pth NOT_TRANSLATED -HP:0003165 Increased serum parathyroid hormone NOT_TRANSLATED -HP:0003167 High urine carnosine levels NOT_TRANSLATED -HP:0003170 Abnormality of the acetabulum NOT_TRANSLATED -HP:0003170 Abnormality of the hipbone socket NOT_TRANSLATED -HP:0003170 Acetabular abnormality NOT_TRANSLATED -HP:0003172 Abnormality of the pubic bones NOT_TRANSLATED -HP:0003172 Abnormality of the pubis NOT_TRANSLATED -HP:0003173 Hypoplastic pubic bones NOT_TRANSLATED -HP:0003173 Hypoplastic pubis NOT_TRANSLATED -HP:0003174 Abnormality of the ischial bones NOT_TRANSLATED -HP:0003174 Anomaly of the ischium NOT_TRANSLATED -HP:0003175 Hypoplastic ischial bones NOT_TRANSLATED -HP:0003175 Hypoplastic ischii NOT_TRANSLATED -HP:0003175 Hypoplastic ischium NOT_TRANSLATED -HP:0003177 Square iliac bones NOT_TRANSLATED -HP:0003177 Squaring of iliac bones NOT_TRANSLATED -HP:0003179 Abnormally indented hip sockets NOT_TRANSLATED -HP:0003179 Protrusio acetabulae NOT_TRANSLATED -HP:0003180 Acetabular angle flat NOT_TRANSLATED -HP:0003180 Flat acetabular roofs NOT_TRANSLATED -HP:0003180 Flattened acetabular roof NOT_TRANSLATED -HP:0003180 Horizontal acetabulae NOT_TRANSLATED -HP:0003180 Horizontal acetabular roof NOT_TRANSLATED -HP:0003180 Horizontal acetabular roofs NOT_TRANSLATED -HP:0003182 Shallow acetabula NOT_TRANSLATED -HP:0003182 Shallow acetabulae NOT_TRANSLATED -HP:0003182 Shallow acetabular fossa NOT_TRANSLATED -HP:0003182 Shallow acetabulum NOT_TRANSLATED -HP:0003183 Wide symphysis of pubis NOT_TRANSLATED -HP:0003184 Limited hip abduction NOT_TRANSLATED -HP:0003185 Short sacroiliac notch NOT_TRANSLATED -HP:0003185 Shortened sacroiliac notches NOT_TRANSLATED -HP:0003185 Small sacroiliac notch NOT_TRANSLATED -HP:0003186 Invaginated nipples NOT_TRANSLATED -HP:0003187 Underdeveloped breasts NOT_TRANSLATED -HP:0003189 Elongated nose NOT_TRANSLATED -HP:0003189 Increased height of nose NOT_TRANSLATED -HP:0003189 Increased length of nose NOT_TRANSLATED -HP:0003189 Increased nasal height NOT_TRANSLATED -HP:0003189 Increased nasal length NOT_TRANSLATED -HP:0003189 Nasal elongation NOT_TRANSLATED -HP:0003191 Ala nasi, cleft NOT_TRANSLATED -HP:0003191 Alar clefts NOT_TRANSLATED -HP:0003191 Cleft nasal alae NOT_TRANSLATED -HP:0003191 Cleft nostril NOT_TRANSLATED -HP:0003191 Nostril coloboma NOT_TRANSLATED -HP:0003191 Notched nasal alae NOT_TRANSLATED -HP:0003193 Hay fever NOT_TRANSLATED -HP:0003193 Hayfever NOT_TRANSLATED -HP:0003193 Nasal allergies NOT_TRANSLATED -HP:0003194 Decreased length of bridge of nose NOT_TRANSLATED -HP:0003194 Decreased length of nasal bridge NOT_TRANSLATED -HP:0003194 Short bridge of nose NOT_TRANSLATED -HP:0003196 Decreased length of nose NOT_TRANSLATED -HP:0003196 Hypoplastic nose NOT_TRANSLATED -HP:0003196 Nasal hypoplasia NOT_TRANSLATED -HP:0003196 Shortened nose NOT_TRANSLATED -HP:0003196 Small nose NOT_TRANSLATED -HP:0003198 Muscle tissue disease NOT_TRANSLATED -HP:0003198 Myopathic changes NOT_TRANSLATED -HP:0003200 Mitochondrial proliferation in muscle tissue NOT_TRANSLATED -HP:0003200 Ragged red muscle fibers NOT_TRANSLATED -HP:0003200 Ragged red muscle fibres NOT_TRANSLATED -HP:0003200 Ragged-red fibers NOT_TRANSLATED -HP:0003200 Ragged-red fibres NOT_TRANSLATED -HP:0003200 Ragged-red muscle fibres NOT_TRANSLATED -HP:0003201 Breakdown of skeletal muscle NOT_TRANSLATED -HP:0003202 Amyotrophy NOT_TRANSLATED -HP:0003202 Amyotrophy involving the extremities NOT_TRANSLATED -HP:0003202 Muscle atrophy NOT_TRANSLATED -HP:0003202 Muscle atrophy, neurogenic NOT_TRANSLATED -HP:0003202 Muscle degeneration NOT_TRANSLATED -HP:0003202 Muscle hypotrophy NOT_TRANSLATED -HP:0003202 Muscle wasting NOT_TRANSLATED -HP:0003202 Muscular atrophy NOT_TRANSLATED -HP:0003202 Neurogenic muscle atrophy NOT_TRANSLATED -HP:0003202 Neurogenic muscle atrophy, especially in the lower limbs NOT_TRANSLATED -HP:0003202 Neurogenic muscular atrophy NOT_TRANSLATED -HP:0003203 Negative NBT reduction test NOT_TRANSLATED -HP:0003203 Negative nitroblue tetrazolium reduction test NOT_TRANSLATED -HP:0003205 Curvilinear profiles ultrastructurally NOT_TRANSLATED -HP:0003205 Curvilinear profiles ultrastructurally in cells NOT_TRANSLATED -HP:0003205 Intracellular curvilinear profiles on ultrastructural analysis NOT_TRANSLATED -HP:0003208 Fingerprint profiles ultrastructurally NOT_TRANSLATED -HP:0003208 Fingerprint profiles ultrastructurally in cells NOT_TRANSLATED -HP:0003210 Decreased methylmalonyl CoA mutase activity NOT_TRANSLATED -HP:0003212 Elevated immunoglobulin E NOT_TRANSLATED -HP:0003212 Elevated serum IgE NOT_TRANSLATED -HP:0003212 High immunoglobulin E NOT_TRANSLATED -HP:0003215 Elevated urinary dicarboxylic acid level NOT_TRANSLATED -HP:0003216 Generalised amyloid deposition NOT_TRANSLATED -HP:0003217 High plasma glutamine NOT_TRANSLATED -HP:0003218 High urine orotic acid levels NOT_TRANSLATED -HP:0003218 Increased urinary orotic acid concentration NOT_TRANSLATED -HP:0003218 Orotic aciduria NOT_TRANSLATED -HP:0003221 Chromosomal breakage induced by diepoxybutane NOT_TRANSLATED -HP:0003221 Chromosomal breakage induced by mitomycin C NOT_TRANSLATED -HP:0003223 Methylcobalamin deficiency NOT_TRANSLATED -HP:0003225 Factor V deficiency NOT_TRANSLATED -HP:0003225 Reduced factor V activity NOT_TRANSLATED -HP:0003226 Rectilinear profiles ultrastructurally NOT_TRANSLATED -HP:0003228 High blood sodium levels NOT_TRANSLATED -HP:0003231 Increased tyrosine in blood NOT_TRANSLATED -HP:0003231 Tyrosinemia NOT_TRANSLATED -HP:0003232 Decreased mitochondrial malic enzyme NOT_TRANSLATED -HP:0003233 Decreased circulating high-density lipoprotein cholesterol NOT_TRANSLATED -HP:0003233 Decreased circulating high-density lipoprotein levels NOT_TRANSLATED -HP:0003233 Decreased HDL cholesterol NOT_TRANSLATED -HP:0003233 Hypoalphalipoproteinemia NOT_TRANSLATED -HP:0003233 Low HDL-cholesterol NOT_TRANSLATED -HP:0003234 Carnitine deficiency NOT_TRANSLATED -HP:0003235 Increased methionine in blood NOT_TRANSLATED -HP:0003235 Methioninemia NOT_TRANSLATED -HP:0003236 Elevated blood creatine phosphokinase NOT_TRANSLATED -HP:0003236 Elevated circulating creatine phosphokinase NOT_TRANSLATED -HP:0003236 Elevated creatine kinase NOT_TRANSLATED -HP:0003236 Elevated serum CPK NOT_TRANSLATED -HP:0003236 Elevated serum creatine kinase NOT_TRANSLATED -HP:0003236 Elevated serum creatine phosphokinase NOT_TRANSLATED -HP:0003236 High serum creatine kinase NOT_TRANSLATED -HP:0003236 Increased CPK NOT_TRANSLATED -HP:0003236 Increased creatine kinase NOT_TRANSLATED -HP:0003236 Increased creatine phosphokinase NOT_TRANSLATED -HP:0003236 Increased serum CK NOT_TRANSLATED -HP:0003236 Increased serum creatine kinase NOT_TRANSLATED -HP:0003236 Increased serum creatine phosphokinase NOT_TRANSLATED -HP:0003237 Increased IgG level NOT_TRANSLATED -HP:0003237 Increased levels of IgG NOT_TRANSLATED -HP:0003237 Increased total IgG in blood NOT_TRANSLATED -HP:0003239 High urine phosphoethanolamine levels NOT_TRANSLATED -HP:0003239 Increased level of O-phosphoethanolamine in urine NOT_TRANSLATED -HP:0003239 Increased urine O-phosphoethanolamine level NOT_TRANSLATED -HP:0003240 Increased phosphoribosyl pyrophosphate synthetase activity NOT_TRANSLATED -HP:0003240 Increased PRPS1 activity NOT_TRANSLATED -HP:0003241 Hypogenitalism NOT_TRANSLATED -HP:0003241 Small genitalia NOT_TRANSLATED -HP:0003241 Underdevelopment of external reproductive organs NOT_TRANSLATED -HP:0003246 Prominent perineal raphe NOT_TRANSLATED -HP:0003250 Absent vagina NOT_TRANSLATED -HP:0003250 Congenital absence of the vagina NOT_TRANSLATED -HP:0003256 Coagulopathy NOT_TRANSLATED -HP:0003259 Elevated creatinine NOT_TRANSLATED -HP:0003259 Elevated serum creatinine NOT_TRANSLATED -HP:0003259 High blood creatinine level NOT_TRANSLATED -HP:0003259 Increased creatinine NOT_TRANSLATED -HP:0003259 Increased serum creatinine NOT_TRANSLATED -HP:0003260 High blood hydroxyproline levels NOT_TRANSLATED -HP:0003261 Elevated IgA NOT_TRANSLATED -HP:0003261 Elevated serum IgA NOT_TRANSLATED -HP:0003261 IgA hypergammaglobulinemia NOT_TRANSLATED -HP:0003261 Increased levels of IgA NOT_TRANSLATED -HP:0003261 Increased serum IgA NOT_TRANSLATED -HP:0003262 Anti-smooth muscle antibody positivity NOT_TRANSLATED -HP:0003262 Smooth muscle antibody positive NOT_TRANSLATED -HP:0003265 High blood bilirubin levels in neonate NOT_TRANSLATED -HP:0003265 Hyperbilirubinemia, neonatal NOT_TRANSLATED -HP:0003267 Orotidine-5-prime-phosphate decarboxylase defect NOT_TRANSLATED -HP:0003268 High urine arginine levels NOT_TRANSLATED -HP:0003270 Abdominal bloating NOT_TRANSLATED -HP:0003270 Abdominal distension NOT_TRANSLATED -HP:0003270 Abdominal swelling NOT_TRANSLATED -HP:0003270 Belly bloating NOT_TRANSLATED -HP:0003270 Bloating NOT_TRANSLATED -HP:0003270 Distended abdomen NOT_TRANSLATED -HP:0003272 Abnormality of the hip bone NOT_TRANSLATED -HP:0003272 Abnormality of the hips NOT_TRANSLATED -HP:0003273 Flexion contracture of hips NOT_TRANSLATED -HP:0003273 Flexion contractures of hips NOT_TRANSLATED -HP:0003273 Hip contractures NOT_TRANSLATED -HP:0003273 Hip flexion contractures NOT_TRANSLATED -HP:0003274 Acetabular hypoplasia NOT_TRANSLATED -HP:0003274 Hypoplastic acetabula NOT_TRANSLATED -HP:0003275 Narrow pelvis NOT_TRANSLATED -HP:0003276 Pelvic exostoses NOT_TRANSLATED -HP:0003277 Constricted iliac wings NOT_TRANSLATED -HP:0003278 Square pelvis NOT_TRANSLATED -HP:0003278 Squared off pelvis NOT_TRANSLATED -HP:0003281 Elevated serum ferritin NOT_TRANSLATED -HP:0003281 High ferritin level NOT_TRANSLATED -HP:0003281 Hyperferritinaemia NOT_TRANSLATED -HP:0003281 Hyperferritinemia NOT_TRANSLATED -HP:0003281 Increased ferritin NOT_TRANSLATED -HP:0003281 Increased plasma ferritin NOT_TRANSLATED -HP:0003281 Increased serum ferritin level NOT_TRANSLATED -HP:0003282 Decreased serum alkaline phosphatase NOT_TRANSLATED -HP:0003282 Low ALP NOT_TRANSLATED -HP:0003286 High blood cystathionine levels NOT_TRANSLATED -HP:0003287 Mitochondrial dysfunction NOT_TRANSLATED -HP:0003288 Mitochondrial PCC defect NOT_TRANSLATED -HP:0003292 Reduced circulating leptin level NOT_TRANSLATED -HP:0003296 High urine threonine levels NOT_TRANSLATED -HP:0003297 High urine lysine levels NOT_TRANSLATED -HP:0003297 Lysinuria NOT_TRANSLATED -HP:0003300 Bullet vertebral body NOT_TRANSLATED -HP:0003300 Oval vertebral bodies NOT_TRANSLATED -HP:0003300 Ovoid vertebrae NOT_TRANSLATED -HP:0003300 Ovoid-shaped vertebral bodies NOT_TRANSLATED -HP:0003301 end-plate irregularities NOT_TRANSLATED -HP:0003301 endplate irregularities NOT_TRANSLATED -HP:0003301 endplate irregularity NOT_TRANSLATED -HP:0003301 Irregular end plates NOT_TRANSLATED -HP:0003301 Irregular endplates NOT_TRANSLATED -HP:0003301 irregular vertebral plates NOT_TRANSLATED -HP:0003301 vertebral endplate irregularity NOT_TRANSLATED -HP:0003302 Displacement of one backbone compared to another NOT_TRANSLATED -HP:0003302 Slipped backbone NOT_TRANSLATED -HP:0003302 Spondylolithesis NOT_TRANSLATED -HP:0003306 Reduced spine movement NOT_TRANSLATED -HP:0003306 Rigid spine NOT_TRANSLATED -HP:0003307 Lordosis NOT_TRANSLATED -HP:0003307 Prominent swayback NOT_TRANSLATED -HP:0003309 Ovoid thoracic and lumbar vertebrae NOT_TRANSLATED -HP:0003310 Abnormal odontoid peg NOT_TRANSLATED -HP:0003310 Abnormal odontoid process NOT_TRANSLATED -HP:0003311 Hypoplastic odontoid process NOT_TRANSLATED -HP:0003311 Odontoid hypoplasia NOT_TRANSLATED -HP:0003311 Small odontoid peg NOT_TRANSLATED -HP:0003311 Small odontoid process NOT_TRANSLATED -HP:0003312 Abnormally shaped vertebrae NOT_TRANSLATED -HP:0003316 Anterior rachischisis NOT_TRANSLATED -HP:0003316 Sagittal clefting of vertebrae NOT_TRANSLATED -HP:0003318 Cervical spine joint hypermobility NOT_TRANSLATED -HP:0003319 Abnormal cervical spine NOT_TRANSLATED -HP:0003319 Abnormality of cervical vertebra NOT_TRANSLATED -HP:0003319 Abnormality of the cervical vertebrae NOT_TRANSLATED -HP:0003319 Cervical spine abnormalities NOT_TRANSLATED -HP:0003319 Cervical vertebral abnormalities NOT_TRANSLATED -HP:0003319 Cervical vertebral anomalies NOT_TRANSLATED -HP:0003319 Disorder of cervical vertebra NOT_TRANSLATED -HP:0003323 Muscle weakness, progressive NOT_TRANSLATED -HP:0003323 Progressive muscular weakness NOT_TRANSLATED -HP:0003324 Generalised muscle weakness NOT_TRANSLATED -HP:0003324 Generalised weakness NOT_TRANSLATED -HP:0003324 Generalized weakness NOT_TRANSLATED -HP:0003324 Muscle weakness, diffuse NOT_TRANSLATED -HP:0003324 Muscle weakness, generalised NOT_TRANSLATED -HP:0003324 Muscle weakness, generalized NOT_TRANSLATED -HP:0003325 Limb girdle weakness NOT_TRANSLATED -HP:0003325 Muscle weakness, limb-girdle NOT_TRANSLATED -HP:0003325 Muscular weakness, limb-girdle NOT_TRANSLATED -HP:0003326 Muscle ache NOT_TRANSLATED -HP:0003326 Muscle pain NOT_TRANSLATED -HP:0003326 Myalgias NOT_TRANSLATED -HP:0003337 Poor prothrombin consumption NOT_TRANSLATED -HP:0003339 Anaemia corrected by uridylic acid and cytidylic acid NOT_TRANSLATED -HP:0003339 Anemia corrected by uridylic acid and cytidylic acid NOT_TRANSLATED -HP:0003339 Pyrimidine-responsive megaloblastic anaemia NOT_TRANSLATED -HP:0003341 Blistering with junctional split NOT_TRANSLATED -HP:0003341 Junctional split NOT_TRANSLATED -HP:0003341 Subepidermal blistering with cleavage in the lamina lucida NOT_TRANSLATED -HP:0003343 Glutathione synthetase deficiency NOT_TRANSLATED -HP:0003344 3-methylglutaricaciduria NOT_TRANSLATED -HP:0003348 Increased blood alanine NOT_TRANSLATED -HP:0003348 Increased serum alanine NOT_TRANSLATED -HP:0003351 Decreased plasma renin activity NOT_TRANSLATED -HP:0003351 Low plasma renin activity NOT_TRANSLATED -HP:0003351 Suppressed plasma renin activity NOT_TRANSLATED -HP:0003354 Elevated circulating threonine NOT_TRANSLATED -HP:0003354 High blood threonine levels NOT_TRANSLATED -HP:0003355 Abnormal urinary amino-acid findings NOT_TRANSLATED -HP:0003355 High urine amino acid levels NOT_TRANSLATED -HP:0003355 Hyperaminoaciduria NOT_TRANSLATED -HP:0003355 Increased levels of animo acids in urine NOT_TRANSLATED -HP:0003357 Decreased thymic hormone NOT_TRANSLATED -HP:0003359 Decreased urinary sulphate NOT_TRANSLATED -HP:0003361 High urine tryptophan levels NOT_TRANSLATED -HP:0003362 Increased circulating very-low-density lipoprotein cholesterol NOT_TRANSLATED -HP:0003362 Increased circulating very-low-density lipoprotein levels NOT_TRANSLATED -HP:0003362 Increased plasma VLDL cholesterol NOT_TRANSLATED -HP:0003363 Situs inversus visceralis NOT_TRANSLATED -HP:0003363 Situs inversus viscerum NOT_TRANSLATED -HP:0003365 Coxalgia NOT_TRANSLATED -HP:0003365 Hip arthralgia NOT_TRANSLATED -HP:0003365 Hip joint pain NOT_TRANSLATED -HP:0003366 Abnormal neck or head of thigh bone NOT_TRANSLATED -HP:0003366 Abnormality of the femoral neck or head region NOT_TRANSLATED -HP:0003367 Abnormal neck of thigh bone NOT_TRANSLATED -HP:0003367 Abnormality of the femoral neck NOT_TRANSLATED -HP:0003368 Abnormal head of thigh bone NOT_TRANSLATED -HP:0003368 Abnormality of the femoral head NOT_TRANSLATED -HP:0003370 Flat capital femoral epiphyses NOT_TRANSLATED -HP:0003370 Flat end part of innermost thighbone NOT_TRANSLATED -HP:0003370 Flat femoral capital epiphyses NOT_TRANSLATED -HP:0003370 Flat proximal femoral epiphyses NOT_TRANSLATED -HP:0003370 Flattened proximal femoral epiphyses NOT_TRANSLATED -HP:0003371 Enlarged capital femoral epiphyses NOT_TRANSLATED -HP:0003371 Enlarged end part of innermost thighbone NOT_TRANSLATED -HP:0003375 Narrow greater sacrosciatic notches NOT_TRANSLATED -HP:0003375 Narrow sacroiliac notch NOT_TRANSLATED -HP:0003375 Narrow sacrosciatic notch NOT_TRANSLATED -HP:0003375 Narrow sciatic notches NOT_TRANSLATED -HP:0003375 Narrowed greater sciatic notch NOT_TRANSLATED -HP:0003375 Narrowed sacrosciatic notch NOT_TRANSLATED -HP:0003375 Small sacrosciatic notch NOT_TRANSLATED -HP:0003375 Small sacrosciatic notches NOT_TRANSLATED -HP:0003376 High stepping NOT_TRANSLATED -HP:0003378 Axon degeneration and regeneration NOT_TRANSLATED -HP:0003380 Decreased number of large and small myelinated fibers NOT_TRANSLATED -HP:0003380 Decreased number of large and small myelinated fibres NOT_TRANSLATED -HP:0003380 Decreased number of peripheral myelinated nerve fibres NOT_TRANSLATED -HP:0003380 Loss of myelinated fibers NOT_TRANSLATED -HP:0003380 Loss of myelinated fibres NOT_TRANSLATED -HP:0003383 Onion bulb formations NOT_TRANSLATED -HP:0003387 Decreased number of large peripheral myelinated nerve fibres NOT_TRANSLATED -HP:0003387 Depletion of large myelinated fibers NOT_TRANSLATED -HP:0003387 Depletion of large myelinated fibres NOT_TRANSLATED -HP:0003387 Loss of large myelinated fibers NOT_TRANSLATED -HP:0003387 Loss of large myelinated fibres NOT_TRANSLATED -HP:0003387 Loss of larger myelinated nerve fibers NOT_TRANSLATED -HP:0003387 Loss of larger myelinated nerve fibres NOT_TRANSLATED -HP:0003388 Tired easily NOT_TRANSLATED -HP:0003390 Axonal sensory neuropathy NOT_TRANSLATED -HP:0003390 Peripheral sensory axonal neuropathy NOT_TRANSLATED -HP:0003391 Gower sign NOT_TRANSLATED -HP:0003391 Positive Gower sign NOT_TRANSLATED -HP:0003391 Positive Gowers sign NOT_TRANSLATED -HP:0200003 Splayed end part of bone NOT_TRANSLATED -HP:0003393 Thenar atrophy NOT_TRANSLATED -HP:0003394 Muscle cramps NOT_TRANSLATED -HP:0200000 Dysharmonic skeletal maturation NOT_TRANSLATED -HP:0003396 Fluid-filled cyst in spinal cord NOT_TRANSLATED -HP:0003396 Syrinx NOT_TRANSLATED -HP:0200007 Abnormal size of the eyes NOT_TRANSLATED -HP:0200007 Abnormal size of the opening between the eyelids NOT_TRANSLATED -HP:0003397 Generalised hypotonia due to defect at the neuromuscular junction NOT_TRANSLATED -HP:0200006 Slanting of the opening between the eyelids NOT_TRANSLATED -HP:0003398 Abnormality of neuromuscular transmission NOT_TRANSLATED -HP:0200005 Abnormal morphology of the palpebral fissure NOT_TRANSLATED -HP:0200005 Abnormal shape of the opening between the eyelids NOT_TRANSLATED -HP:0003400 Basal lamina 'onion bulb' formations on nerve biopsy NOT_TRANSLATED -HP:0003401 Paresthesias NOT_TRANSLATED -HP:0003401 Pins and needles feeling NOT_TRANSLATED -HP:0003401 Tingling NOT_TRANSLATED -HP:0003402 Decreased MEPP NOT_TRANSLATED -HP:0003402 Small miniature endplate currents NOT_TRANSLATED -HP:0003402 Small miniature endplate potentials NOT_TRANSLATED -HP:0003403 EMG: decrement at repetitive stimulation NOT_TRANSLATED -HP:0003403 EMG: decremental response of CMAP to repetitive nerve stimulation NOT_TRANSLATED -HP:0200008 Gastrointestinal polyps NOT_TRANSLATED -HP:0200008 Growths in inner lining of intestine NOT_TRANSLATED -HP:0200008 Multiple intestinal polyps NOT_TRANSLATED -HP:0200013 Tumor of fatty tissue NOT_TRANSLATED -HP:0200013 Tumour of fatty tissue NOT_TRANSLATED -HP:0003409 Distal sensory loss to all modalities NOT_TRANSLATED -HP:0200018 Colorblindness, partial, protan series NOT_TRANSLATED -HP:0200018 Red-weak NOT_TRANSLATED -HP:0200017 Agenesis of the cerebral white matter NOT_TRANSLATED -HP:0200017 White matter agenesis NOT_TRANSLATED -HP:0003411 Irregular proximal femoral metaphyses NOT_TRANSLATED -HP:0200016 Acral keratosis NOT_TRANSLATED -HP:0200023 hulseyism NOT_TRANSLATED -HP:0003414 Atlanto-axial subluxation NOT_TRANSLATED -HP:0003414 Atlantoaxial subluxation NOT_TRANSLATED -HP:0200021 Rounded shoulders NOT_TRANSLATED -HP:0200021 Rounded, sloping shoulders NOT_TRANSLATED -HP:0200021 Sloping shoulders NOT_TRANSLATED -HP:0200020 Damage to outer layer of the cornea of the eye NOT_TRANSLATED -HP:0003416 Narrow spinal canal NOT_TRANSLATED -HP:0003416 Spinal stenosis NOT_TRANSLATED -HP:0003417 coronal cleft of vertebrae NOT_TRANSLATED -HP:0003417 Coronal clefts NOT_TRANSLATED -HP:0003417 Coronal vertebral clefts NOT_TRANSLATED -HP:0003417 Vertebral coronal clefts NOT_TRANSLATED -HP:0200026 Eye pain NOT_TRANSLATED -HP:0200025 Lower jaw pain NOT_TRANSLATED -HP:0003419 Lower back pain NOT_TRANSLATED -HP:0003422 Abnormal spinal segmentation NOT_TRANSLATED -HP:0200029 Cutaneous vasculitis NOT_TRANSLATED -HP:0003423 Dorsolumbar kyphosis NOT_TRANSLATED -HP:0200028 Graves dermopathy NOT_TRANSLATED -HP:0200034 Papules NOT_TRANSLATED -HP:0200034 Skin papules NOT_TRANSLATED -HP:0200032 Fleischer's ring NOT_TRANSLATED -HP:0200032 Fleischer-Kayser ring NOT_TRANSLATED -HP:0200032 Fleischer-Struempell ring NOT_TRANSLATED -HP:0200039 Pimple NOT_TRANSLATED -HP:0200039 Pustula NOT_TRANSLATED -HP:0200039 Pustular lesion NOT_TRANSLATED -HP:0200039 Pustules NOT_TRANSLATED -HP:0200039 Skin pustule NOT_TRANSLATED -HP:0200039 Skin pustules NOT_TRANSLATED -HP:0003431 Decreased motor NCV NOT_TRANSLATED -HP:0003431 Decreased motor nerve conduction velocities NOT_TRANSLATED -HP:0003431 Reduced motor nerve conduction velocity NOT_TRANSLATED -HP:0200036 Growth of abnormal tissue on or under the skin NOT_TRANSLATED -HP:0200043 Warts NOT_TRANSLATED -HP:0200042 Open skin sore NOT_TRANSLATED -HP:0200040 Epidermal cyst NOT_TRANSLATED -HP:0200040 Epidermal inclusion cyst NOT_TRANSLATED -HP:0200040 Epidermoid cysts NOT_TRANSLATED -HP:0200040 Infundibular cyst NOT_TRANSLATED -HP:0200040 Keratin cyst NOT_TRANSLATED -HP:0200040 Sebaceous cyst NOT_TRANSLATED -HP:0200040 Skin cyst NOT_TRANSLATED -HP:0003436 Prolonged MEPC NOT_TRANSLATED -HP:0003436 Prolonged MEPP NOT_TRANSLATED -HP:0003436 Prolonged miniature endplate potentials NOT_TRANSLATED -HP:0200047 Inflammation of cartilage of pinna NOT_TRANSLATED -HP:0200046 cat-like cry NOT_TRANSLATED -HP:0200046 cri de chat-associated cry NOT_TRANSLATED -HP:0003438 Absent ankle reflexes NOT_TRANSLATED -HP:0200050 Bracket shaped end part of long bone of hand NOT_TRANSLATED -HP:0200055 Disproportionately small hands NOT_TRANSLATED -HP:0200055 Small hands NOT_TRANSLATED -HP:0003445 EMG: neurogenic abnormalities NOT_TRANSLATED -HP:0003445 EMG: neurogenic changes NOT_TRANSLATED -HP:0003445 EMG: neurogenic findings NOT_TRANSLATED -HP:0200053 Asymmetric leg shortening NOT_TRANSLATED -HP:0200053 Asymmetric lower limb shortness NOT_TRANSLATED -HP:0003448 Decreased sensory NCV NOT_TRANSLATED -HP:0003448 Decreased sensory nerve conduction velocities NOT_TRANSLATED -HP:0003450 Regenerative activity on nerve biopsy NOT_TRANSLATED -HP:0200057 Relative afferent pupil defect NOT_TRANSLATED -HP:0200057 Relative afferent pupillary defect NOT_TRANSLATED -HP:0200056 Macular scarring NOT_TRANSLATED -HP:0200063 Colorectal polyps NOT_TRANSLATED -HP:0003453 Antineutrophil antibodies NOT_TRANSLATED -HP:0003453 Neutrophil antibody positive NOT_TRANSLATED -HP:0003454 Platelet antibody NOT_TRANSLATED -HP:0003455 Elevated long chain fatty acids NOT_TRANSLATED -HP:0003455 Elevated serum long-chain fatty acids NOT_TRANSLATED -HP:0003455 Increased serum long-chain fatty acids NOT_TRANSLATED -HP:0200067 Spontaneous abortion, recurrent NOT_TRANSLATED -HP:0003457 Abnormal electromyography finding NOT_TRANSLATED -HP:0003457 Abnormal EMG NOT_TRANSLATED -HP:0003457 Electromyogram abnormal NOT_TRANSLATED -HP:0003457 EMG abnormalities NOT_TRANSLATED -HP:0003458 EMG: myopathic changes NOT_TRANSLATED -HP:0003458 EMG: myopathy NOT_TRANSLATED -HP:0003458 Myopathic electromyogram NOT_TRANSLATED -HP:0003460 Decreased total IgA in blood NOT_TRANSLATED -HP:0003460 Total immunoglobulin A deficiency NOT_TRANSLATED -HP:0200070 Wasting of the outer part of the retina NOT_TRANSLATED -HP:0003463 Lipopigment in extraneuronal cells NOT_TRANSLATED -HP:0200068 Decreased visual acuity, nonprogressive NOT_TRANSLATED -HP:0200072 Quadriplegia, episodic NOT_TRANSLATED -HP:0003468 Abnormal vertebrae NOT_TRANSLATED -HP:0003468 Abnormal vertebral bodies NOT_TRANSLATED -HP:0003468 Abnormality of the vertebrae NOT_TRANSLATED -HP:0003468 Multiple vertebral anomalies NOT_TRANSLATED -HP:0003468 Vertebral anomalies NOT_TRANSLATED -HP:0003470 Inability to move NOT_TRANSLATED -HP:0003473 Fatigable weakness of limb muscles NOT_TRANSLATED -HP:0003473 Generalised muscle weakness due to defect at the neuromuscular junction NOT_TRANSLATED -HP:0003473 Generalized muscle weakness due to defect at the neuromuscular junction NOT_TRANSLATED -HP:0003473 Myasthenia NOT_TRANSLATED -HP:0003473 Myasthenic weakness NOT_TRANSLATED -HP:0003473 Proximal muscle weakness due to defect at the neuromuscular junction NOT_TRANSLATED -HP:0003474 Sensory impairment NOT_TRANSLATED -HP:0003477 Axonal neuropathy NOT_TRANSLATED -HP:0003477 Axonal peripheral neuropathy NOT_TRANSLATED -HP:0200085 Involuntary shaking of limb NOT_TRANSLATED -HP:0200085 Tremor of limbs NOT_TRANSLATED -HP:0200084 Giant cell hepatitis on biopsy NOT_TRANSLATED -HP:0200084 Giant cell hepatitis on liver biopsy NOT_TRANSLATED -HP:0200084 Giant cell hepatitis shown on biopsy NOT_TRANSLATED -HP:0003481 Segmental demyelination/remyelination NOT_TRANSLATED -HP:0003484 Decreased arm strength NOT_TRANSLATED -HP:0003484 Weak arm NOT_TRANSLATED -HP:0003487 Extensor plantar reflexes NOT_TRANSLATED -HP:0003487 Extensor plantar response NOT_TRANSLATED -HP:0003487 Extensor plantar responses NOT_TRANSLATED -HP:0003487 Positive Babinski sign NOT_TRANSLATED -HP:0200098 Lack of skin coloration NOT_TRANSLATED -HP:0200097 Blebs of oral mucosa NOT_TRANSLATED -HP:0200097 Blisters of mouth NOT_TRANSLATED -HP:0200097 Bullae of oral mucosa NOT_TRANSLATED -HP:0200097 Oral blistering NOT_TRANSLATED -HP:0200097 Oral mucosa blisters NOT_TRANSLATED -HP:0003493 Antinuclear antibodies NOT_TRANSLATED -HP:0003493 Antinuclear antibody positive NOT_TRANSLATED -HP:0003493 Elevated antinuclear antibody NOT_TRANSLATED -HP:0003493 Serum antinuclear antibody NOT_TRANSLATED -HP:0200102 Partial to total absence of eyelashes NOT_TRANSLATED -HP:0200102 Sparse to absent eyelashes NOT_TRANSLATED -HP:0200101 Decreased or absent ankle reflexes NOT_TRANSLATED -HP:0003496 Increased IgM levels NOT_TRANSLATED -HP:0003496 Increased levels of IgM NOT_TRANSLATED -HP:0003498 Short stature, disproportionate NOT_TRANSLATED -HP:0003498 Short stature, severe disproportionate NOT_TRANSLATED -HP:0200105 Missing fifth toenail NOT_TRANSLATED -HP:0200104 Absent nail of fifth finger NOT_TRANSLATED -HP:0003502 Relative short stature NOT_TRANSLATED -HP:0003502 short stature, mild NOT_TRANSLATED -HP:0200109 Respiratory cilia have shortened or absent outer dynein arms NOT_TRANSLATED -HP:0200113 Aphalangy, hands and feet NOT_TRANSLATED -HP:0003508 Proportionate small stature NOT_TRANSLATED -HP:0003508 Short stature, proportionate NOT_TRANSLATED -HP:0200119 Acute liver inflammation NOT_TRANSLATED -HP:0200118 Malabsorption of cyanocobalamin NOT_TRANSLATED -HP:0200118 Vitamin B12 deficiency caused by intestinal malabsorption NOT_TRANSLATED -HP:0003510 Dwarfism NOT_TRANSLATED -HP:0003510 Proportionate dwarfism NOT_TRANSLATED -HP:0003510 Short stature, extreme NOT_TRANSLATED -HP:0003510 Short stature, severe NOT_TRANSLATED -HP:0200123 Chronic liver inflammation NOT_TRANSLATED -HP:0003513 Reduced ration of kidney calcium clearance to creatinine clearance NOT_TRANSLATED -HP:0003513 Reduced ration of renal Ca clearance to creatinine clearance NOT_TRANSLATED -HP:0003513 Reduced ration of renal Ca2+ to creatinine clearance NOT_TRANSLATED -HP:0200122 Atypical or prolonged liver inflammation NOT_TRANSLATED -HP:0003514 Deficiency or absence of cytochrome b NOT_TRANSLATED -HP:0200120 Hepatitis, chronic active NOT_TRANSLATED -HP:0003517 Fetal overgrowth NOT_TRANSLATED -HP:0003517 Foetal overgrowth NOT_TRANSLATED -HP:0200124 Hepatitis, chronic, due to cryptosporidium infection NOT_TRANSLATED -HP:0003521 Disproportionate short-trunked dwarfism NOT_TRANSLATED -HP:0003521 Disproportionate short-trunked short stature NOT_TRANSLATED -HP:0003521 Short-trunked dwarfism NOT_TRANSLATED -HP:0003524 Decreased activity of methionine synthase NOT_TRANSLATED -HP:0003524 Methionine synthase activity decreased NOT_TRANSLATED -HP:0003524 Methionine synthase deficiency NOT_TRANSLATED -HP:0003524 Reduced methionine synthase activity NOT_TRANSLATED -HP:0200134 Convulsive encephalopathy NOT_TRANSLATED -HP:0003527 High urine prostaglandin levels NOT_TRANSLATED -HP:0003529 Parathormone-independent increased renal tubular Ca reabsorption NOT_TRANSLATED -HP:0003529 Parathormone-independent increased renal tubular Ca2+ reabsorption NOT_TRANSLATED -HP:0003530 Glutarate acidemia NOT_TRANSLATED -HP:0003530 Glutaric acidemia NOT_TRANSLATED -HP:0200136 Oral pharyngeal dysphagia NOT_TRANSLATED -HP:0200136 Oropharyngeal dysphagia NOT_TRANSLATED -HP:0200143 Bone marrow biopsy shows megaloblastic erythroid hyperplasia NOT_TRANSLATED -HP:0003533 Delayed oxidation of acetaldehyde NOT_TRANSLATED -HP:0003534 Xanthine dehydrogenase deficiency NOT_TRANSLATED -HP:0200141 Conical microdontia NOT_TRANSLATED -HP:0200141 Small, cone shaped teeth NOT_TRANSLATED -HP:0200141 Small, peg shaped teeth NOT_TRANSLATED -HP:0200141 Small, pointed teeth NOT_TRANSLATED -HP:0003535 3-Methylglutaconicaciduria NOT_TRANSLATED -HP:0003537 Low blood uric acid levels NOT_TRANSLATED -HP:0200146 Cystic medial necrosis of the aorta NOT_TRANSLATED -HP:0200146 MEMA NOT_TRANSLATED -HP:0003538 Increased serum iduronate sulfatase NOT_TRANSLATED -HP:0003538 Increased serum iduronate sulfatase level NOT_TRANSLATED -HP:0003540 Defective platelet aggregation NOT_TRANSLATED -HP:0003540 Deficient platelet aggregation NOT_TRANSLATED -HP:0003540 Platelet aggregation defect NOT_TRANSLATED -HP:0200150 Increased serum bile acid concentration during pregnancy, resolves NOT_TRANSLATED -HP:0003542 Increased serum pyruvic acid NOT_TRANSLATED -HP:0200149 CSF lymphocytosis NOT_TRANSLATED -HP:0200148 Abnormal liver function tests during pregnancy, resolves postpartum NOT_TRANSLATED -HP:0200154 Absence of lower lateral incisor NOT_TRANSLATED -HP:0200154 Absence of mandibular lateral incisor NOT_TRANSLATED -HP:0200154 Failure of development of mandibular lateral incisor NOT_TRANSLATED -HP:0200154 Missing lower lateral incisor NOT_TRANSLATED -HP:0200154 Missing mandibular lateral incisor NOT_TRANSLATED -HP:0003546 Decreased ability to exercise NOT_TRANSLATED -HP:0003546 Inability to exercise NOT_TRANSLATED -HP:0003546 Low exercise endurance NOT_TRANSLATED -HP:0003546 Poor exercise tolerance NOT_TRANSLATED -HP:0200153 Absence of lateral incisor NOT_TRANSLATED -HP:0200153 Failure of development of lateral incisor NOT_TRANSLATED -HP:0200153 Missing lateral incisor NOT_TRANSLATED -HP:0003547 Muscle weakness, shoulder-girdle NOT_TRANSLATED -HP:0003547 Shoulder girdle weakness NOT_TRANSLATED -HP:0003547 Shoulder weakness NOT_TRANSLATED -HP:0003547 Weak shoulder muscles NOT_TRANSLATED -HP:0200159 Absence of deciduous mandibular lateral incisor NOT_TRANSLATED -HP:0200159 Absence of lower front baby tooth NOT_TRANSLATED -HP:0200159 Absence of primary mandibular lateral incisor NOT_TRANSLATED -HP:0200159 Agenesis of deciduous mandibular lateral incisor NOT_TRANSLATED -HP:0200159 Failure of development of deciduous mandibular lateral incisor NOT_TRANSLATED -HP:0200159 Failure of development of primary mandibular lateral incisor NOT_TRANSLATED -HP:0200159 Missing deciduous mandibular lateral incisor NOT_TRANSLATED -HP:0200159 Missing primary mandibular lateral incisor NOT_TRANSLATED -HP:0200158 Absence of adult mandibular lateral incisor NOT_TRANSLATED -HP:0200158 Absence of permanent mandibular lateral incisor NOT_TRANSLATED -HP:0200158 Failure of development of permanent mandibular lateral incisor NOT_TRANSLATED -HP:0200158 Missing adult lower lateral incisor NOT_TRANSLATED -HP:0200158 Missing permanent mandibular lateral incisor NOT_TRANSLATED -HP:0003551 Difficulty walking up stairs NOT_TRANSLATED -HP:0003554 Type 2 fiber atrophy NOT_TRANSLATED -HP:0003554 Type 2 fibre atrophy NOT_TRANSLATED -HP:0003554 Type 2 muscle fibre atrophy NOT_TRANSLATED -HP:0200161 Absence of lower front tooth NOT_TRANSLATED -HP:0200161 Absence of lower incisor NOT_TRANSLATED -HP:0200161 Absence of mandibular incisor NOT_TRANSLATED -HP:0200161 Agenesis of lower incisor NOT_TRANSLATED -HP:0200161 Failure of development of mandibular incisor NOT_TRANSLATED -HP:0200161 Missing lower front tooth NOT_TRANSLATED -HP:0200161 Missing lower incisor NOT_TRANSLATED -HP:0003555 Fiber splitting NOT_TRANSLATED -HP:0003555 Fibre splitting NOT_TRANSLATED -HP:0003555 Muscle fibre splitting NOT_TRANSLATED -HP:0200160 Absence of maxillary incisor NOT_TRANSLATED -HP:0200160 Absence of upper front tooth NOT_TRANSLATED -HP:0200160 Failure of development of maxillary incisor NOT_TRANSLATED -HP:0200160 Failure of development of upper incisor NOT_TRANSLATED -HP:0200160 Missing upper front tooth NOT_TRANSLATED -HP:0200160 Missing upper incisor NOT_TRANSLATED -HP:0003557 Increased fiber size variation NOT_TRANSLATED -HP:0003557 Increased fibre size variation NOT_TRANSLATED -HP:0003557 Increased variability in muscle fiber size NOT_TRANSLATED -HP:0003557 Increased variability in muscle fibre diameter NOT_TRANSLATED -HP:0003557 Increased variability in muscle fibre size NOT_TRANSLATED -HP:0003557 Increased variation in fiber size NOT_TRANSLATED -HP:0003557 Increased variation in fibre size NOT_TRANSLATED -HP:0003557 Increased variation in muscle fiber size NOT_TRANSLATED -HP:0003557 Increased variation in muscle fibre size NOT_TRANSLATED -HP:0003557 Variation in muscle fiber size NOT_TRANSLATED -HP:0003557 Variation in muscle fibre size NOT_TRANSLATED -HP:0003560 Muscle biopsy shows dystrophic changes NOT_TRANSLATED -HP:0003561 Birth length < 3rd percentile NOT_TRANSLATED -HP:0003561 Birth length <3rd percentile NOT_TRANSLATED -HP:0003563 Decreased circulating low-density lipoprotein levels NOT_TRANSLATED -HP:0003563 Decreased LDL NOT_TRANSLATED -HP:0003563 Decreased LDLc concentration NOT_TRANSLATED -HP:0003563 Hypobetalipoproteinemia NOT_TRANSLATED -HP:0003565 Elevated ESR NOT_TRANSLATED -HP:0003565 Elevated sedimentation rate NOT_TRANSLATED -HP:0003565 High erythrocyte sedimentation rate NOT_TRANSLATED -HP:0003565 High ESR NOT_TRANSLATED -HP:0003565 Increased erythrocyte sedimentation rate NOT_TRANSLATED -HP:0003565 Raised erythrocyte sedimentation rate NOT_TRANSLATED -HP:0003566 Elevated prostaglandin E2 NOT_TRANSLATED -HP:0003568 Decreased glucose phosphate isomerase activity NOT_TRANSLATED -HP:0003568 Glucosephosphate isomerase deficiency NOT_TRANSLATED -HP:0003568 Phosphohexose isomerase deficiency NOT_TRANSLATED -HP:0003573 High bili total NOT_TRANSLATED -HP:0003573 Increased bilirubin NOT_TRANSLATED -HP:0003575 High intracellular Na NOT_TRANSLATED -HP:0003575 Increased intracellular Na+ levels NOT_TRANSLATED -HP:0003577 Onset at birth NOT_TRANSLATED -HP:0003577 Symptoms present at birth NOT_TRANSLATED -HP:0003581 Onset in adulthood NOT_TRANSLATED -HP:0003581 Onset in early adulthood NOT_TRANSLATED -HP:0003581 Symptoms begin in adulthood NOT_TRANSLATED -HP:0003587 Gradual onset NOT_TRANSLATED -HP:0003593 Onset in first year of life NOT_TRANSLATED -HP:0003593 Onset in infancy NOT_TRANSLATED -HP:0003607 Elevated urine 4-hydroxyphenylacetic acid level NOT_TRANSLATED -HP:0003612 Positive FeCl3 test NOT_TRANSLATED -HP:0003613 Antiphospholipid antibodies NOT_TRANSLATED -HP:0003613 Antiphospholipid antibody NOT_TRANSLATED -HP:0003613 Phospholipid antibody positivity NOT_TRANSLATED -HP:0003614 High urine trimethylamine levels NOT_TRANSLATED -HP:0003621 Signs and symptoms begin before 15 years of age NOT_TRANSLATED -HP:0003623 Onset in first weeks of life NOT_TRANSLATED -HP:0003623 Onset in neonatal period NOT_TRANSLATED -HP:0003634 Absent muscles since birth NOT_TRANSLATED -HP:0003634 Congenital absence of muscles NOT_TRANSLATED -HP:0003635 Loss of fat tissue below the skin in limbs NOT_TRANSLATED -HP:0003635 Loss of subcutaneous adipose tissue from extremities NOT_TRANSLATED -HP:0003637 Reducted HPPD activity NOT_TRANSLATED -HP:0003639 Increased urinary epinephrine NOT_TRANSLATED -HP:0003641 Haemoglobin in urine NOT_TRANSLATED -HP:0003641 Hemoglobin in urine NOT_TRANSLATED -HP:0003642 Abnormal isoelectric focusing of serum transferrin, type I pattern NOT_TRANSLATED -HP:0003642 Isoelectric focusing of serum transferrin consistent with CDG type I NOT_TRANSLATED -HP:0003642 Type 1 transferrin isoform profile NOT_TRANSLATED -HP:0003645 Abnormal partial thromboplastin time NOT_TRANSLATED -HP:0003645 Delayed thromboplastin generation NOT_TRANSLATED -HP:0003645 Partial thromboplastin time prolonged NOT_TRANSLATED -HP:0003645 Prolonged activated partial thromboplastin time NOT_TRANSLATED -HP:0003645 Prolonged PTT NOT_TRANSLATED -HP:0003646 Increased urine bicarbonate concentration NOT_TRANSLATED -HP:0003646 Increased urine HCO3 concentration NOT_TRANSLATED -HP:0003648 High urine lactic acid levels NOT_TRANSLATED -HP:0003648 Increased urine lactate NOT_TRANSLATED -HP:0003651 Foamy histiocytes NOT_TRANSLATED -HP:0003651 Foamy macrophages NOT_TRANSLATED -HP:0003651 Lipid-laden histiocytes NOT_TRANSLATED -HP:0003651 Presence of foam cells NOT_TRANSLATED -HP:0003652 Myoglobinuria, episodic NOT_TRANSLATED -HP:0003652 Myoglobinuria, recurrent NOT_TRANSLATED -HP:0003654 Dihydropyrimidine dehydrogenase deficiency NOT_TRANSLATED -HP:0003655 Deficient N-acetylglucosaminyltransferase II NOT_TRANSLATED -HP:0003656 Decreased lysosomal acid glucosylceramidase activity NOT_TRANSLATED -HP:0003658 Decreased plasma methionine NOT_TRANSLATED -HP:0003658 Decreased serum methionine NOT_TRANSLATED -HP:0003674 Age of onset NOT_TRANSLATED -HP:0003674 Age symptoms begin NOT_TRANSLATED -HP:0003676 Progressive disorder NOT_TRANSLATED -HP:0003676 Worsens with time NOT_TRANSLATED -HP:0003677 Signs and symptoms worsen slowly with time NOT_TRANSLATED -HP:0003677 Slow disease progression NOT_TRANSLATED -HP:0003677 Slow progression NOT_TRANSLATED -HP:0003677 Slowly progressive disorder NOT_TRANSLATED -HP:0003678 Rapid progression NOT_TRANSLATED -HP:0003678 Rapidly progressive disorder NOT_TRANSLATED -HP:0003678 Worsening quickly NOT_TRANSLATED -HP:0003680 Does not worsen NOT_TRANSLATED -HP:0003680 Non-progressive NOT_TRANSLATED -HP:0003680 Nonprogressive course NOT_TRANSLATED -HP:0003680 Nonprogressive disorder NOT_TRANSLATED -HP:0003680 Stationary NOT_TRANSLATED -HP:0003687 Central nuclei NOT_TRANSLATED -HP:0003687 Centralised nuclei NOT_TRANSLATED -HP:0003687 Centralised sarcomeric nuclei NOT_TRANSLATED -HP:0003687 Centralized nuclei NOT_TRANSLATED -HP:0003687 Centralized sarcomeric nuclei NOT_TRANSLATED -HP:0003687 Centrally nucleated skeletal muscle fibres NOT_TRANSLATED -HP:0003688 Cytochrome c oxidase deficiency in skeletal muscle NOT_TRANSLATED -HP:0003688 Cytochrome C oxidase-negative muscle fibres NOT_TRANSLATED -HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue NOT_TRANSLATED -HP:0003688 Decreased skeletal muscle cytochrome c oxidase activity NOT_TRANSLATED -HP:0003689 Multiple mtDNA deletions NOT_TRANSLATED -HP:0003690 Limb weakness NOT_TRANSLATED -HP:0003691 Scapula alata NOT_TRANSLATED -HP:0003691 Scapular weakness NOT_TRANSLATED -HP:0003691 Winged scapulae NOT_TRANSLATED -HP:0003691 Winged scapulas NOT_TRANSLATED -HP:0003691 Winged shoulder blade NOT_TRANSLATED -HP:0003693 Amyotrophy of distal limb muscles NOT_TRANSLATED -HP:0003693 Distal amyotrophy, especially of the hands and feet NOT_TRANSLATED -HP:0003693 Distal limb muscle atrophy NOT_TRANSLATED -HP:0003693 Distal muscle atrophy NOT_TRANSLATED -HP:0003693 Distal muscle atrophy, upper and lower limbs NOT_TRANSLATED -HP:0003693 Distal muscle degeneration NOT_TRANSLATED -HP:0003693 Distal muscle wasting NOT_TRANSLATED -HP:0003693 Distal muscular atrophy NOT_TRANSLATED -HP:0003693 Muscle atrophy, distal NOT_TRANSLATED -HP:0003696 Absent end part of the outermost bone of the little finger NOT_TRANSLATED -HP:0003696 Absent end part of the outermost bone of the pinkie finger NOT_TRANSLATED -HP:0003696 Absent end part of the outermost bone of the pinky finger NOT_TRANSLATED -HP:0003697 Scapuloperoneal atrophy NOT_TRANSLATED -HP:0003698 Difficulty in standing NOT_TRANSLATED -HP:0003698 Standing instability NOT_TRANSLATED -HP:0003700 Diffuse amyotrophy NOT_TRANSLATED -HP:0003700 Diffuse muscle atrophy NOT_TRANSLATED -HP:0003700 Diffuse muscle wasting NOT_TRANSLATED -HP:0003700 Diffuse skeletal muscle wasting NOT_TRANSLATED -HP:0003700 Generalised amyotrophy NOT_TRANSLATED -HP:0003700 Generalised muscle atrophy NOT_TRANSLATED -HP:0003700 Generalised muscle degeneration NOT_TRANSLATED -HP:0003700 Generalized muscle atrophy NOT_TRANSLATED -HP:0003700 Generalized muscle degeneration NOT_TRANSLATED -HP:0003700 Muscle atrophy, diffuse NOT_TRANSLATED -HP:0003700 Muscle atrophy, generalised NOT_TRANSLATED -HP:0003700 Muscle atrophy, generalized NOT_TRANSLATED -HP:0003700 Muscular atrophy, generalised NOT_TRANSLATED -HP:0003700 Muscular atrophy, generalized NOT_TRANSLATED -HP:0003701 Muscle weakness, proximal NOT_TRANSLATED -HP:0003701 Proximal limb muscle weakness NOT_TRANSLATED -HP:0003701 Proximal limb weakness NOT_TRANSLATED -HP:0003701 Proximal neurogenic muscle weakness NOT_TRANSLATED -HP:0003701 Weakness in muscles of upper arms and upper legs NOT_TRANSLATED -HP:0003704 Neurogenic scapuloperoneal syndrome NOT_TRANSLATED -HP:0003707 Pseudohypertrophy of the calves NOT_TRANSLATED -HP:0003710 Exercise-induced muscle cramping NOT_TRANSLATED -HP:0003710 Muscle cramps following exercise NOT_TRANSLATED -HP:0003710 Muscle cramps on exercise NOT_TRANSLATED -HP:0003710 Muscle cramps on exertion NOT_TRANSLATED -HP:0003710 Muscle cramps with exertion NOT_TRANSLATED -HP:0003712 Hypertrophic muscles NOT_TRANSLATED -HP:0003712 Increased skeletal muscle cells NOT_TRANSLATED -HP:0003712 Muscle hypertrophy NOT_TRANSLATED -HP:0003712 Muscular hypertrophy NOT_TRANSLATED -HP:0003713 Muscle fibre necrosis NOT_TRANSLATED -HP:0003715 Myofibrillar changes NOT_TRANSLATED -HP:0003716 Generalised muscular appearance from birth NOT_TRANSLATED -HP:0003717 Minimal fat below the skin NOT_TRANSLATED -HP:0003720 Generalised increase in muscle cell size NOT_TRANSLATED -HP:0003720 Generalised muscle hypertrophy NOT_TRANSLATED -HP:0003720 Generalized increase in muscle cell size NOT_TRANSLATED -HP:0003722 Neck flexion weakness NOT_TRANSLATED -HP:0003722 Neck flexor muscle weakness NOT_TRANSLATED -HP:0003724 Shoulder girdle atrophy NOT_TRANSLATED -HP:0003724 Shoulder girdle muscle wasting NOT_TRANSLATED -HP:0003724 Shoulder-girdle muscle atrophy NOT_TRANSLATED -HP:0003730 EMG: spontaneous, repetitive electrical activity NOT_TRANSLATED -HP:0003731 Quadriceps weakness NOT_TRANSLATED -HP:0003733 Increased thigh size NOT_TRANSLATED -HP:0003738 Exercise-induced muscle pain NOT_TRANSLATED -HP:0003738 Muscle pain on exercise NOT_TRANSLATED -HP:0003738 Muscle pain with exercise NOT_TRANSLATED -HP:0003738 Muscle pain, exercise-induced NOT_TRANSLATED -HP:0003741 Muscular dystrophy, congenital NOT_TRANSLATED -HP:0003743 Autosomal dominant with genetic anticipation NOT_TRANSLATED -HP:0003744 Paternal anticipation bias NOT_TRANSLATED -HP:0003745 Isolated cases NOT_TRANSLATED -HP:0003745 No previous family history NOT_TRANSLATED -HP:0003749 Hip girdle muscle weakness NOT_TRANSLATED -HP:0003749 Hip girdle weakness NOT_TRANSLATED -HP:0003749 Hip-girdle muscle weakness NOT_TRANSLATED -HP:0003749 Pelvic girdle weakness NOT_TRANSLATED -HP:0003750 Muscle fatigue NOT_TRANSLATED -HP:0003755 Type 1 fibres relatively smaller than type 2 fibres NOT_TRANSLATED -HP:0003758 Decreased subcutaneous adipose tissue NOT_TRANSLATED -HP:0003758 Decreased subcutaneous fat NOT_TRANSLATED -HP:0003758 Reduced fat tissue below the skin NOT_TRANSLATED -HP:0003758 Reduced subcutaneous fat NOT_TRANSLATED -HP:0003758 Scanty adipose tissue NOT_TRANSLATED -HP:0003759 Underdeveloped lymphatic vessels NOT_TRANSLATED -HP:0003761 Calcium buildup in soft tissues of body NOT_TRANSLATED -HP:0003762 Double uterus NOT_TRANSLATED -HP:0003763 Teeth grinding NOT_TRANSLATED -HP:0003764 Mole NOT_TRANSLATED -HP:0003764 Naevi NOT_TRANSLATED -HP:0003764 Naevus NOT_TRANSLATED -HP:0003764 Nevi NOT_TRANSLATED -HP:0003765 Psoriasis NOT_TRANSLATED -HP:0003768 Episodic paralysis NOT_TRANSLATED -HP:0003771 False denticles NOT_TRANSLATED -HP:0003771 False pulp stones NOT_TRANSLATED -HP:0003771 Pulp calcifications NOT_TRANSLATED -HP:0003771 Pulp denticles NOT_TRANSLATED -HP:0003771 Pulp stones NOT_TRANSLATED -HP:0003771 Pulpoliths NOT_TRANSLATED -HP:0003771 True denticles NOT_TRANSLATED -HP:0003771 True pulp stones NOT_TRANSLATED -HP:0003774 Chronic renal failure NOT_TRANSLATED -HP:0003774 End stage renal disease NOT_TRANSLATED -HP:0003774 End stage renal failure NOT_TRANSLATED -HP:0003774 End-stage renal disease NOT_TRANSLATED -HP:0003774 End-stage renal failure NOT_TRANSLATED -HP:0003774 Renal failure, endstage NOT_TRANSLATED -HP:0003777 Flattened and twisted hair NOT_TRANSLATED -HP:0003778 Decreased height of mandibular ramus NOT_TRANSLATED -HP:0003778 Decreased size of mandibular ramus NOT_TRANSLATED -HP:0003778 Short body and ramus of mandible NOT_TRANSLATED -HP:0003778 Short mandibular ramus NOT_TRANSLATED -HP:0003778 Underdeveloped mandibular rami NOT_TRANSLATED -HP:0003779 Deep antegonial notch of mandible NOT_TRANSLATED -HP:0003779 Large antegonial notch of mandible NOT_TRANSLATED -HP:0003781 Excessive production of saliva NOT_TRANSLATED -HP:0003781 Hypersalivation NOT_TRANSLATED -HP:0003781 Mouth watering NOT_TRANSLATED -HP:0003781 Oversalivation NOT_TRANSLATED -HP:0003781 Ptyalism NOT_TRANSLATED -HP:0003781 Watery mouth NOT_TRANSLATED -HP:0003787 Type 1 and type 2 muscle fibre minicore regions NOT_TRANSLATED -HP:0003795 Short middle bones (feet) NOT_TRANSLATED -HP:0003795 Short middle phalanges of toes NOT_TRANSLATED -HP:0003797 Limb-girdle myopathy NOT_TRANSLATED -HP:0003797 Wasting of limb-girdle muscle NOT_TRANSLATED -HP:0003798 Nemaline rods NOT_TRANSLATED -HP:0003799 Marked retardation in skeletal maturation NOT_TRANSLATED -HP:0003799 Markedly retarded bone age NOT_TRANSLATED -HP:0003803 Type 1 muscle fibre predominance NOT_TRANSLATED -HP:0003803 Type I muscle fiber predominance NOT_TRANSLATED -HP:0003803 Type I muscle fibre predominance NOT_TRANSLATED -HP:0003805 Rimmed vacuoles on biopsy NOT_TRANSLATED -HP:0003811 Neonatal lethal NOT_TRANSLATED -HP:0003812 Clinical heterogeneity NOT_TRANSLATED -HP:0003812 Highly variable clinical phenotype NOT_TRANSLATED -HP:0003812 Highly variable phenotype NOT_TRANSLATED -HP:0003812 Highly variable phenotype and severity NOT_TRANSLATED -HP:0003812 Highly variable phenotype, even within families NOT_TRANSLATED -HP:0003812 Variable phenotype NOT_TRANSLATED -HP:0003812 Variable phenotypic severity NOT_TRANSLATED -HP:0003826 Fetal death NOT_TRANSLATED -HP:0003826 Fetal demise NOT_TRANSLATED -HP:0003826 Foetal death NOT_TRANSLATED -HP:0003826 Late fetal death NOT_TRANSLATED -HP:0003826 Stillborn NOT_TRANSLATED -HP:0003828 Highly variable severity NOT_TRANSLATED -HP:0003828 Variable severity NOT_TRANSLATED -HP:0003829 Incomplete penetrance NOT_TRANSLATED -HP:0003829 Reduced penetrance NOT_TRANSLATED -HP:0003831 Age dependent penetrance NOT_TRANSLATED -HP:0003831 Age-dependent penetrance NOT_TRANSLATED -HP:0003831 Typified by age-related penetrance NOT_TRANSLATED -HP:0003835 Partial shoulder dislocation NOT_TRANSLATED -HP:0003837 Calcification of the soft-tissue around the shoulders NOT_TRANSLATED -HP:0003839 Abnormal shape of end part of upper limb long bones NOT_TRANSLATED -HP:0003839 Abnormality involving the epiphyses of the upper limbs NOT_TRANSLATED -HP:0003839 Epihyseal plate abnormality of the upper limbs NOT_TRANSLATED -HP:0003840 Delayed maturation fo the end part of the upper limb bone NOT_TRANSLATED -HP:0003841 Fragmented end part of upper limb bones NOT_TRANSLATED -HP:0003842 Irregular end part of upper limb bones NOT_TRANSLATED -HP:0003843 Round end part of upper limb bones NOT_TRANSLATED -HP:0003844 Small end part of upper limb bones NOT_TRANSLATED -HP:0003846 Broad epiphyseal plates of the upper limbs NOT_TRANSLATED -HP:0003846 Broad growth plates of upper limbs NOT_TRANSLATED -HP:0003848 Cupped wide portion of the upper limb bone NOT_TRANSLATED -HP:0003849 Flared metaphyses of the upper limbs NOT_TRANSLATED -HP:0003849 Flared wide portion of the upper limb bone NOT_TRANSLATED -HP:0003850 Irregular metaphyses of the upper limbs NOT_TRANSLATED -HP:0003850 Irregular wide portion of upper limb bones NOT_TRANSLATED -HP:0003854 Increased bone density in wide portion of the upper limb bones NOT_TRANSLATED -HP:0003855 Spurred wide portion of upper limb bone NOT_TRANSLATED -HP:0003856 Broad wide portion of upper limb bone NOT_TRANSLATED -HP:0003856 Wide/broad metaphyses of the upper limbs NOT_TRANSLATED -HP:0003860 Increased bone density in central part of long bone of upper limbs NOT_TRANSLATED -HP:0003861 Broad shaft of long bone of the upper limbs NOT_TRANSLATED -HP:0003861 Wide diaphyses of the upper limbs NOT_TRANSLATED -HP:0003861 Wide shaft of long bone of the upper limbs NOT_TRANSLATED -HP:0003862 Absent long bone in upper arm NOT_TRANSLATED -HP:0003862 Aplasia of the humerus NOT_TRANSLATED -HP:0003862 Aplastic humerus NOT_TRANSLATED -HP:0003863 Angulated long bone in upper arm NOT_TRANSLATED -HP:0003864 Notched long bone in upper arm NOT_TRANSLATED -HP:0003865 Bowed long bone in upper arm NOT_TRANSLATED -HP:0003865 Bowing of the humerus NOT_TRANSLATED -HP:0003865 Humeral bowing NOT_TRANSLATED -HP:0003870 Crumpled long bone in upper arm NOT_TRANSLATED -HP:0003871 Deformed long bone in upper arm NOT_TRANSLATED -HP:0003875 Lytic defects of the humerus NOT_TRANSLATED -HP:0003877 Humeral oval transradiancy NOT_TRANSLATED -HP:0003879 False joint (long bone in upper arm) NOT_TRANSLATED -HP:0003880 Humeral sclerotic foci NOT_TRANSLATED -HP:0003881 Increased bone density in long bone of upper arm NOT_TRANSLATED -HP:0003881 Sclerosis of humerus NOT_TRANSLATED -HP:0003882 Slender long bone of upper arm NOT_TRANSLATED -HP:0003883 Tapered long bone of upper arm NOT_TRANSLATED -HP:0003884 Triangular long bone of upper arm NOT_TRANSLATED -HP:0003886 Broad humerus NOT_TRANSLATED -HP:0003886 Wide long bone of upper arm NOT_TRANSLATED -HP:0003887 Abnormal head of long bone in upper arm NOT_TRANSLATED -HP:0003887 Abnormality of the humeral heads NOT_TRANSLATED -HP:0003888 Flattended head of long bone in upper arm NOT_TRANSLATED -HP:0003889 Abnormality of the deltoid tuberosities NOT_TRANSLATED -HP:0003891 Abnormality of end part of the long bone of the upper arm NOT_TRANSLATED -HP:0003891 Abnormality of the humeral epiphyses NOT_TRANSLATED -HP:0003892 Absent maturation of end part of long bone in upper arm NOT_TRANSLATED -HP:0003892 Absent ossification of the humeral epiphyses NOT_TRANSLATED -HP:0003893 Accelerated maturation of end part of long bone in upper arm NOT_TRANSLATED -HP:0003893 Advanced maturation of the humeral epiphyses NOT_TRANSLATED -HP:0003894 Delayed maturation of the end part of the long bone in upper arm NOT_TRANSLATED -HP:0003894 Delayed maturation/delayed ossification of the humeral epiphyses NOT_TRANSLATED -HP:0003895 Flattened end part of long bone in upper arm NOT_TRANSLATED -HP:0003896 Irregular end part of long bone in upper arm NOT_TRANSLATED -HP:0003897 Irregular maturation of the end part of the long bone in upper arm NOT_TRANSLATED -HP:0003898 Large end part of long bone in upper arm NOT_TRANSLATED -HP:0003899 Round end part of long bone in upper arm NOT_TRANSLATED -HP:0003900 Small end part of long bone in upper arm NOT_TRANSLATED -HP:0003902 Stippled ossification of the humeral epiphyses NOT_TRANSLATED -HP:0003903 Wide end part of long bone in upper arm NOT_TRANSLATED -HP:0003903 Wide humeral epiphyses NOT_TRANSLATED -HP:0003904 Broad epiphyses of the upper limbs NOT_TRANSLATED -HP:0003904 Wide end part of upper limb bones NOT_TRANSLATED -HP:0003905 Abnormality of arm long bone growth plate NOT_TRANSLATED -HP:0003906 Wide humeral epiphyseal plate NOT_TRANSLATED -HP:0003906 Wide long bone of arm growth plate NOT_TRANSLATED -HP:0003907 Abnormality of the humeral metaphyses NOT_TRANSLATED -HP:0003907 Abnormality of the wide portion of the long bone in upper arm NOT_TRANSLATED -HP:0003908 Bucket handle fracture NOT_TRANSLATED -HP:0003908 Metaphyseal corner fracture NOT_TRANSLATED -HP:0003910 Enlarged wide portion of long bone of upper arm NOT_TRANSLATED -HP:0003910 Expanded humeral metaphyses NOT_TRANSLATED -HP:0003911 Flared humerus NOT_TRANSLATED -HP:0003911 Flared wide portion of long bone of upper arm NOT_TRANSLATED -HP:0003911 Wide/broad humeral metaphysis NOT_TRANSLATED -HP:0003913 Irregular humeral metaphyses NOT_TRANSLATED -HP:0003913 Irregular wide portion of long bone in upper arm NOT_TRANSLATED -HP:0003914 Irregular bone maturation of the wide portion of the long bone in upper arm NOT_TRANSLATED -HP:0003917 Pointed wide portion of long bone of upper arm NOT_TRANSLATED -HP:0003918 Hardening of wide portion of long bone of upper arm NOT_TRANSLATED -HP:0003918 Stiffening of wide portion of long bone of upper arm NOT_TRANSLATED -HP:0003920 Sloping metaphysis of long bone of upper arm NOT_TRANSLATED -HP:0003921 Laterally sloping metaphysis of long bone of upper arm NOT_TRANSLATED -HP:0003922 Spurred metaphysis of long bone of upper arm NOT_TRANSLATED -HP:0003923 Square metaphysis of long bone of upper arm NOT_TRANSLATED -HP:0003924 Speckled calcification in metaphysis of long bone of upper arm NOT_TRANSLATED -HP:0003926 Abnormality of shaft of long bone in upper arm NOT_TRANSLATED -HP:0003926 Abnormality of the humeral diaphysis NOT_TRANSLATED -HP:0003930 Humeral diaphyseal lysis NOT_TRANSLATED -HP:0003933 Increased bone density in shaft of long bone in upper arm NOT_TRANSLATED -HP:0003934 Slender shaft of long bone in upper arm NOT_TRANSLATED -HP:0003935 Broad humeral diaphysis NOT_TRANSLATED -HP:0003935 Broad shaft of long bone in upper arm NOT_TRANSLATED -HP:0003935 Wide shaft of long bone in upper arm NOT_TRANSLATED -HP:0003938 Bone fusion involving the elbow NOT_TRANSLATED -HP:0003939 Humeral ulnar synostosis NOT_TRANSLATED -HP:0003946 Abnormality of end part of the elbow bone NOT_TRANSLATED -HP:0003947 Delayed maturation of the end part of the elbow bone NOT_TRANSLATED -HP:0003948 Irregular end part of the elbow bone NOT_TRANSLATED -HP:0003949 Abnormal wide portion of elbow bone NOT_TRANSLATED -HP:0003950 Flared wide portion of elbow bone NOT_TRANSLATED -HP:0003951 Irregular metaphyses of elbow NOT_TRANSLATED -HP:0003951 Irregular wide portion of elbow bone NOT_TRANSLATED -HP:0003952 Vertical linear mixed lucent and sclerotic pattern of metaphyses NOT_TRANSLATED -HP:0003953 Aplasia of the forearm bones NOT_TRANSLATED -HP:0003961 Broken forearm NOT_TRANSLATED -HP:0003961 Fracture of the forearm NOT_TRANSLATED -HP:0003967 Increased bone density of forearm bones NOT_TRANSLATED -HP:0003971 Wide forearm bones NOT_TRANSLATED -HP:0003973 Broad radioulnar joints NOT_TRANSLATED -HP:0003974 absence of radius and ulna NOT_TRANSLATED -HP:0003974 Absent ossification/absence of radius NOT_TRANSLATED -HP:0003974 Aplasia of the radius NOT_TRANSLATED -HP:0003974 Missing outer large bone of forearm NOT_TRANSLATED -HP:0003974 Radial aplasia NOT_TRANSLATED -HP:0003981 Wide radius NOT_TRANSLATED -HP:0003982 Absent ossification/absent ulna NOT_TRANSLATED -HP:0003982 Absent ulna NOT_TRANSLATED -HP:0003982 Absent ulnae NOT_TRANSLATED -HP:0003988 Disproportionately long ulnae NOT_TRANSLATED -HP:0003991 Sclerotic ulna NOT_TRANSLATED -HP:0003993 Wide ulna NOT_TRANSLATED -HP:0003994 Dislocations of the wrists NOT_TRANSLATED -HP:0003995 Deformity of radial heads NOT_TRANSLATED -HP:0003997 Small radial head NOT_TRANSLATED -HP:0003999 Abnormality of radial epiphyseal plates NOT_TRANSLATED -HP:0004000 Chevron-shaped distal radial epiphysis NOT_TRANSLATED -HP:0004014 Wide radial epiphyseal plates NOT_TRANSLATED -HP:0004015 Abnormality of radial metaphyses NOT_TRANSLATED -HP:0430007 Eyelid adhesion to globe of eye NOT_TRANSLATED -HP:0430007 Eyelid stuck to eyeball NOT_TRANSLATED -HP:0004018 Broadening of the distal radius NOT_TRANSLATED -HP:0004019 Irregular radial metaphysis NOT_TRANSLATED -HP:0430005 Abnormality of ethmoid bone NOT_TRANSLATED -HP:0430005 Anomaly of the ethmoid bone NOT_TRANSLATED -HP:0430005 Deformity of the ethmoid bone NOT_TRANSLATED -HP:0430005 Malformation of the ethmoid bone NOT_TRANSLATED -HP:0430002 Anomaly of the lacrimal bone NOT_TRANSLATED -HP:0430002 Deformity of the lacrimal bone NOT_TRANSLATED -HP:0430002 Malformation of the lacrimal bone NOT_TRANSLATED -HP:0430003 Abnormality of the palatine bone NOT_TRANSLATED -HP:0430003 Anomaly of the palatine bone NOT_TRANSLATED -HP:0430003 Deformity of the palatine bone NOT_TRANSLATED -HP:0430003 Malformation of the palatine bone NOT_TRANSLATED -HP:0430000 Abnormal morphology of frontal bone NOT_TRANSLATED -HP:0430000 Abnormality of the bone of the forehead NOT_TRANSLATED -HP:0430000 Abnormality of the frontal bone NOT_TRANSLATED -HP:0430000 Anomaly of the frontal bone NOT_TRANSLATED -HP:0430000 Deformity of the frontal bone NOT_TRANSLATED -HP:0430000 Malformation of the frontal bone NOT_TRANSLATED -HP:0430014 Abnormality of soft palate muscles NOT_TRANSLATED -HP:0430015 Abnormality of muscles of the pharynx NOT_TRANSLATED -HP:0430015 Abnormality of musculature of pharynx NOT_TRANSLATED -HP:0430015 Abnormality of pharyngeal musculature NOT_TRANSLATED -HP:0430015 Abnormality of pharynx musculature NOT_TRANSLATED -HP:0004026 Wide radial metaphysis NOT_TRANSLATED -HP:0430012 Incomplete calcification of palatine bone NOT_TRANSLATED -HP:0430012 Incomplete formation of palatine bone NOT_TRANSLATED -HP:0430012 Incomplete mineralization of palatine bone NOT_TRANSLATED -HP:0430013 Absence of palatine bone calcification NOT_TRANSLATED -HP:0430013 Absence of palatine bone formation NOT_TRANSLATED -HP:0430013 Absence of palatine bone mineralization NOT_TRANSLATED -HP:0430010 Abnormally small eyelid NOT_TRANSLATED -HP:0430008 Double eyelid NOT_TRANSLATED -HP:0430008 Extra eyelid NOT_TRANSLATED -HP:0004031 Wide radial diaphysis NOT_TRANSLATED -HP:0430009 Decreased size of eyelid NOT_TRANSLATED -HP:0430009 Hypoplasia of the eyelid NOT_TRANSLATED -HP:0430009 Hypoplastic eyelid NOT_TRANSLATED -HP:0430009 Short eyelid NOT_TRANSLATED -HP:0430009 Small eyelid NOT_TRANSLATED -HP:0430009 Underdevelopment of eyelid NOT_TRANSLATED -HP:0004032 Abnormality of the olecranon NOT_TRANSLATED -HP:0430022 Abnormality of the sphenoidal sinus NOT_TRANSLATED -HP:0430023 Abnormality of the antrum of Highmore NOT_TRANSLATED -HP:0430023 Abnormality of the maxillary antrum NOT_TRANSLATED -HP:0430023 Abnormality of the upper jaw sinus NOT_TRANSLATED -HP:0004035 Abnormality of the styloid process of ulna NOT_TRANSLATED -HP:0430021 Abnormality of the common carotid artery NOT_TRANSLATED -HP:0430018 Abnormality of muscle of nose NOT_TRANSLATED -HP:0430018 Abnormality of musculature of the nose NOT_TRANSLATED -HP:0004037 Abnormality of the epiphyseal plate of the ulna NOT_TRANSLATED -HP:0004037 Abnormality of the ulnar epiphyses NOT_TRANSLATED -HP:0430019 Abnormality of musculature of facial expression NOT_TRANSLATED -HP:0004039 Abnormality of ulnar metaphysis NOT_TRANSLATED -HP:0430017 Abnormality of musculus uvulae NOT_TRANSLATED -HP:0004042 Irregular ulnar metaphysis NOT_TRANSLATED -HP:0430028 Big maxilla NOT_TRANSLATED -HP:0430028 Big upper jaw NOT_TRANSLATED -HP:0430028 Hyperplasia of upper jaw NOT_TRANSLATED -HP:0430028 Hypertrophy of maxilla NOT_TRANSLATED -HP:0430028 Hypertrophy of upper jaw NOT_TRANSLATED -HP:0430028 Increased projection of maxilla NOT_TRANSLATED -HP:0430028 Increased projection of upper jaw NOT_TRANSLATED -HP:0430028 Increased size of maxilla NOT_TRANSLATED -HP:0430028 Increased size of upper jaw NOT_TRANSLATED -HP:0430028 Large maxilla NOT_TRANSLATED -HP:0430028 Large upper jaw NOT_TRANSLATED -HP:0430028 Maxillary excess NOT_TRANSLATED -HP:0430028 Maxillary hyperplasia NOT_TRANSLATED -HP:0430028 Maxillary macrognathia NOT_TRANSLATED -HP:0430028 Maxillary prognathia NOT_TRANSLATED -HP:0430028 Maxillary prominence NOT_TRANSLATED -HP:0430028 Prognathia of the upper jaw NOT_TRANSLATED -HP:0430028 Prominent maxilla NOT_TRANSLATED -HP:0430028 Prominent upper jaw NOT_TRANSLATED -HP:0430028 Upper jaw bone excess NOT_TRANSLATED -HP:0430028 Upper jaw excess NOT_TRANSLATED -HP:0430029 Hyperplasia of the intermaxillary bone NOT_TRANSLATED -HP:0430029 Hyperplasia of the primary palate bone NOT_TRANSLATED -HP:0430029 Increased size of premaxilla NOT_TRANSLATED -HP:0430029 Increased size of the primary palate bone NOT_TRANSLATED -HP:0430029 Large premaxilla NOT_TRANSLATED -HP:0430029 Large primary palate bone NOT_TRANSLATED -HP:0430029 Premaxillary excess NOT_TRANSLATED -HP:0430029 Primary palate bone excess NOT_TRANSLATED -HP:0004047 Broad ulnar metaphysis NOT_TRANSLATED -HP:0430025 Bilateral facial muscle paralysis NOT_TRANSLATED -HP:0430025 Bilateral facial muscle weakness NOT_TRANSLATED -HP:0430025 Bilateral facial paralysis NOT_TRANSLATED -HP:0430025 Paralysis of both sides of the face NOT_TRANSLATED -HP:0430025 Weakness of both sides of the face NOT_TRANSLATED -HP:0004050 Acheiria NOT_TRANSLATED -HP:0004051 Accelerated maturation of hand bones NOT_TRANSLATED -HP:0004051 Advanced maturation of the hand bones NOT_TRANSLATED -HP:0004052 Delay maturation/delayed ossification of the hand NOT_TRANSLATED -HP:0004052 Delayed maturation of the hand bones NOT_TRANSLATED -HP:0004053 Disharmonic maturation of the hand bones NOT_TRANSLATED -HP:0004053 Dysharmonic ossification of the hand bones NOT_TRANSLATED -HP:0004054 Generalised sclerosis of hand bones NOT_TRANSLATED -HP:0004054 Generalized sclerosis of hand bones NOT_TRANSLATED -HP:0004054 Hand bone sclerosis NOT_TRANSLATED -HP:0004054 Increased bone density in hand bone NOT_TRANSLATED -HP:0004054 Increased bone density in hand bones NOT_TRANSLATED -HP:0004057 Pseudosyndactyly NOT_TRANSLATED -HP:0004060 trident abnormality NOT_TRANSLATED -HP:0004060 trident deformity NOT_TRANSLATED -HP:0004097 Atypical position of finger NOT_TRANSLATED -HP:0004097 Deviated fingers NOT_TRANSLATED -HP:0004097 Finger pointing in a different direction than usual NOT_TRANSLATED -HP:0004099 Finger overgrowth NOT_TRANSLATED -HP:0004099 Megalodactyly NOT_TRANSLATED -HP:0004100 Abnormality of index finger NOT_TRANSLATED -HP:0004100 Abnormality of the 2nd finger NOT_TRANSLATED -HP:0004112 Central nasal groove NOT_TRANSLATED -HP:0004122 Central cleft of nose NOT_TRANSLATED -HP:0004122 Central defect of nose NOT_TRANSLATED -HP:0004122 Central nasal defect NOT_TRANSLATED -HP:0004122 Midline cleft of nose NOT_TRANSLATED -HP:0004122 Midline nasal defect NOT_TRANSLATED -HP:0004132 Dimpled tip of nose NOT_TRANSLATED -HP:0004150 Abnormality of the 3rd finger NOT_TRANSLATED -HP:0004150 Abnormality of the middle finger NOT_TRANSLATED -HP:0004172 Abnormal middle finger bone of the middle finger NOT_TRANSLATED -HP:0004180 Hypoplastic/small distal phalanx of the 3rd finger NOT_TRANSLATED -HP:0004180 Short distal phalanx of the third finger NOT_TRANSLATED -HP:0004180 Short outermost bone of the middle finger NOT_TRANSLATED -HP:0004180 Short terminal phalanx of middle finger NOT_TRANSLATED -HP:0004188 Abnormality of the 4th finger NOT_TRANSLATED -HP:0004188 Abnormality of the ring finger NOT_TRANSLATED -HP:0004195 Lytic defects of the phalanges of the ring finger NOT_TRANSLATED -HP:0004197 Fused ring finger bones NOT_TRANSLATED -HP:0004197 Symphalangism of the ring finger NOT_TRANSLATED -HP:0004207 Abnormality of the 5th finger NOT_TRANSLATED -HP:0004207 Abnormality of the little finger NOT_TRANSLATED -HP:0004207 Abnormality of the pinkie finger NOT_TRANSLATED -HP:0004207 Abnormality of the pinky finger NOT_TRANSLATED -HP:0004209 Bilateral fifth digit clinodactyly NOT_TRANSLATED -HP:0004209 Bilateral fifth finger clinodactyly NOT_TRANSLATED -HP:0004209 Clinodactyly of fifth digit NOT_TRANSLATED -HP:0004209 Clinodactyly of the little finger NOT_TRANSLATED -HP:0004209 Curvature of little finger NOT_TRANSLATED -HP:0004209 Curvature of pinkie finger NOT_TRANSLATED -HP:0004209 Curvature of pinky finger NOT_TRANSLATED -HP:0004209 Fifth finger clinodactyly NOT_TRANSLATED -HP:0004209 Permanent curving of the pinkie finger NOT_TRANSLATED -HP:0004213 Abnormality of the little finger bone NOT_TRANSLATED -HP:0004213 Abnormality of the phalanges of the 5th finger NOT_TRANSLATED -HP:0004213 Abnormality of the pinkie finger bone NOT_TRANSLATED -HP:0004213 Abnormality of the pinky finger bone NOT_TRANSLATED -HP:0004214 Curved little finger bone NOT_TRANSLATED -HP:0004214 Curved pinkie finger bone NOT_TRANSLATED -HP:0004214 Curved pinky finger bone NOT_TRANSLATED -HP:0004216 Lytic defects of the phalanges of the little finger NOT_TRANSLATED -HP:0004218 Fifth finger symphalangism NOT_TRANSLATED -HP:0004218 Fused little finger bones NOT_TRANSLATED -HP:0004218 Fused pinkie finger bones NOT_TRANSLATED -HP:0004218 Fused pinky finger bones NOT_TRANSLATED -HP:0004218 Symphalagism of the little finger NOT_TRANSLATED -HP:0004219 Abnormality of the middle bone of little finger NOT_TRANSLATED -HP:0004219 Abnormality of the middle bone of pinkie finger NOT_TRANSLATED -HP:0004219 Abnormality of the middle bone of pinky finger NOT_TRANSLATED -HP:0004220 5th finger middle phalangeal hypoplasia NOT_TRANSLATED -HP:0004220 Brachymesophalangism V NOT_TRANSLATED -HP:0004220 Brachymesophalangy V (finger) NOT_TRANSLATED -HP:0004220 Fifth finger mid-phalanx hypoplasia NOT_TRANSLATED -HP:0004220 Hypoplastic fifth finger middle phalanx NOT_TRANSLATED -HP:0004220 Hypoplastic middle phalanx of the 5th finger NOT_TRANSLATED -HP:0004220 Hypoplastic/small middle phalanx of the 5th finger NOT_TRANSLATED -HP:0004220 Hypoplastic/small middle phalanx of the little finger NOT_TRANSLATED -HP:0004220 Short middle bone of the little finger NOT_TRANSLATED -HP:0004220 Short middle bone of the pinkie finger NOT_TRANSLATED -HP:0004220 Short middle bone of the pinky finger NOT_TRANSLATED -HP:0004220 Short middle phalanx of the little finger NOT_TRANSLATED -HP:0004220 Type A3 brachydactyly NOT_TRANSLATED -HP:0004222 Cone-shaped end part of the outermost little finger bone NOT_TRANSLATED -HP:0004222 Cone-shaped end part of the outermost pinkie finger bone NOT_TRANSLATED -HP:0004222 Cone-shaped end part of the outermost pinky finger bone NOT_TRANSLATED -HP:0004222 Cone-shaped epiphysis of the distal phalanx of the little finger NOT_TRANSLATED -HP:0004223 Increased bone density of end part of the outermost little finger bone NOT_TRANSLATED -HP:0004223 Increased bone density of end part of the outermost pinkie finger bone NOT_TRANSLATED -HP:0004223 Increased bone density of end part of the outermost pinky finger bone NOT_TRANSLATED -HP:0004223 Ivory epiphysis of the distal phalanx of the little finger NOT_TRANSLATED -HP:0004223 Ivory epiphysis of the terminal phalanx of the little finger NOT_TRANSLATED -HP:0004224 Abnormality of the end part of middle little finger bone NOT_TRANSLATED -HP:0004224 Abnormality of the end part of middle pinkie finger bone NOT_TRANSLATED -HP:0004224 Abnormality of the end part of middle pinky finger bone NOT_TRANSLATED -HP:0004225 Abnormality of the distal phalanx of the little finger NOT_TRANSLATED -HP:0004225 Abnormality of the outermost little finger bone NOT_TRANSLATED -HP:0004225 Abnormality of the outermost pinkie finger bone NOT_TRANSLATED -HP:0004225 Abnormality of the outermost pinky finger bone NOT_TRANSLATED -HP:0004225 Abnormality of the terminal phalanx of the little finger NOT_TRANSLATED -HP:0004226 Curved outermost little finger bone NOT_TRANSLATED -HP:0004226 Curved outermost pinkie finger bone NOT_TRANSLATED -HP:0004226 Curved outermost pinky finger bone NOT_TRANSLATED -HP:0004226 Curved terminal phalanx of the little finger NOT_TRANSLATED -HP:0004227 Brachytelophalangism V NOT_TRANSLATED -HP:0004227 Fifth digit distal phalangeal hypoplasia NOT_TRANSLATED -HP:0004227 Hypoplastic/small terminal phalanx of the little finger NOT_TRANSLATED -HP:0004227 Short distal phalanx of the fifth finger NOT_TRANSLATED -HP:0004227 Short outermost little finger bone NOT_TRANSLATED -HP:0004227 Short outermost pinkie finger bone NOT_TRANSLATED -HP:0004227 Short outermost pinky finger bone NOT_TRANSLATED -HP:0004230 Partially dislocated innermost hinge joint of little finger NOT_TRANSLATED -HP:0004230 Partially dislocated innermost hinge joint of pinkie finger NOT_TRANSLATED -HP:0004230 Partially dislocated innermost hinge joint of pinky finger NOT_TRANSLATED -HP:0004231 Absent carpal bone NOT_TRANSLATED -HP:0004231 Absent carpal bones NOT_TRANSLATED -HP:0004231 Absent carpal ossification center NOT_TRANSLATED -HP:0004231 Absent carpal ossification centre NOT_TRANSLATED -HP:0004231 Absent wrist bone NOT_TRANSLATED -HP:0004231 Aplastic carpal bone NOT_TRANSLATED -HP:0004231 Missing wrist bone NOT_TRANSLATED -HP:0004232 Extra wrist bones NOT_TRANSLATED -HP:0004232 Supernumerary carpal bones NOT_TRANSLATED -HP:0004233 Accelerated carpal bone maturation NOT_TRANSLATED -HP:0004233 Accelerated wrist bone maturation NOT_TRANSLATED -HP:0004233 Advanced carpal bone age NOT_TRANSLATED -HP:0004233 Advanced carpal ossification NOT_TRANSLATED -HP:0004233 Precociously ossified carpal bones NOT_TRANSLATED -HP:0004234 Bone-in-a-bone appearance of wrist bones NOT_TRANSLATED -HP:0004235 Comma-shaped wrist bones NOT_TRANSLATED -HP:0004236 Irregular wrist bones NOT_TRANSLATED -HP:0004237 Large carpals NOT_TRANSLATED -HP:0004237 Large wrist bones NOT_TRANSLATED -HP:0004240 Hardened spots within wrist bones NOT_TRANSLATED -HP:0004240 Stiffened spots within wrist bones NOT_TRANSLATED -HP:0004241 Punctate calcifications of carpals NOT_TRANSLATED -HP:0004242 Wide carpal bones NOT_TRANSLATED -HP:0004242 Wide wrist bones NOT_TRANSLATED -HP:0004246 Delayed maturation of the scaphoid NOT_TRANSLATED -HP:0004251 Lunotriquetral synostosis NOT_TRANSLATED -HP:0004253 Absent trapezium bone NOT_TRANSLATED -HP:0004254 Delayed maturation of the trapezium NOT_TRANSLATED -HP:0004257 Delayed maturation of the trapezoid bone NOT_TRANSLATED -HP:0004260 Large unciform bone NOT_TRANSLATED -HP:0004261 Broad hamate bone NOT_TRANSLATED -HP:0004261 Wide unciform bone NOT_TRANSLATED -HP:0004264 Decreased carpal joint angles NOT_TRANSLATED -HP:0004269 Partial dislocation of small joints of hand NOT_TRANSLATED -HP:0004273 Cupped metaphysis of hand bones NOT_TRANSLATED -HP:0004273 Cupped wide portion of hand bones NOT_TRANSLATED -HP:0004274 Deficient maturation of hand bones NOT_TRANSLATED -HP:0004277 Broken hand bones NOT_TRANSLATED -HP:0004278 Fused hand bones NOT_TRANSLATED -HP:0004279 Hypoplastic hands NOT_TRANSLATED -HP:0004279 Short hands NOT_TRANSLATED -HP:0004279 Short palms NOT_TRANSLATED -HP:0004280 Irregular maturation of hand bones NOT_TRANSLATED -HP:0004283 Narrow hand NOT_TRANSLATED -HP:0004283 Narrow hands NOT_TRANSLATED -HP:0004286 Uneven increase in bone density in hand bones NOT_TRANSLATED -HP:0004293 Fusion of second metacarpal-trapezoid NOT_TRANSLATED -HP:0004294 Partial knuckle dislocation NOT_TRANSLATED -HP:0004294 Subluxation of metacarpophalangeal joints NOT_TRANSLATED -HP:0004295 Abnormality of the gastric mucosa NOT_TRANSLATED -HP:0004295 Abnormality of the mucous membrane layer of stomach NOT_TRANSLATED -HP:0004296 Abnormality of gastrointestinal vasculature NOT_TRANSLATED -HP:0004296 Abnormality of GI blood vessels NOT_TRANSLATED -HP:0004296 Abnormality of GI vasculature NOT_TRANSLATED -HP:0004298 Abnormality of external features of the abdomen NOT_TRANSLATED -HP:0004299 Herniated abdominal wall NOT_TRANSLATED -HP:0004302 Functional motor problems NOT_TRANSLATED -HP:0004303 Abnormal muscle fibre morphology NOT_TRANSLATED -HP:0004303 Abnormal skeletal muscle fiber morphology NOT_TRANSLATED -HP:0004303 Abnormal skeletal muscle fibre morphology NOT_TRANSLATED -HP:0004303 Abnormality of muscle fibers NOT_TRANSLATED -HP:0004303 Abnormality of muscle fibres NOT_TRANSLATED -HP:0004305 Involuntary muscle contractions NOT_TRANSLATED -HP:0004306 Abnormality of the endocardium NOT_TRANSLATED -HP:0004306 Abnormality of the endomycoardium NOT_TRANSLATED -HP:0004308 Ventricular arrhythmias NOT_TRANSLATED -HP:0004309 Pre-excitation syndrome NOT_TRANSLATED -HP:0004309 Preexcitation NOT_TRANSLATED -HP:0004309 Ventricular pre-excitation NOT_TRANSLATED -HP:0004311 Abnormality of histiocytes NOT_TRANSLATED -HP:0004311 Abnormality of macrophages NOT_TRANSLATED -HP:0004312 Abnormality of reticulocytes NOT_TRANSLATED -HP:0004313 Decreased antibody level in blood NOT_TRANSLATED -HP:0004313 Decreased immunoglobulin level NOT_TRANSLATED -HP:0004313 Decreased serum immunoglobulin NOT_TRANSLATED -HP:0004313 Hypogammaglobulinemia NOT_TRANSLATED -HP:0004313 Immunoglobulin deficiency NOT_TRANSLATED -HP:0004313 Reduced immunoglobulin levels NOT_TRANSLATED -HP:0004315 Decreased gamma-globin expression NOT_TRANSLATED -HP:0004315 Decreased IgG level NOT_TRANSLATED -HP:0004315 Decreased IgG level in blood NOT_TRANSLATED -HP:0004315 Decreased immunoglobulin G NOT_TRANSLATED -HP:0004315 Decreased serum IgG NOT_TRANSLATED -HP:0004315 IgG deficiency NOT_TRANSLATED -HP:0004315 Reduced IgG levels NOT_TRANSLATED -HP:0004319 Decreased aldosterone NOT_TRANSLATED -HP:0004319 Decreased aldosterone production NOT_TRANSLATED -HP:0004319 Decreased serum aldosterone NOT_TRANSLATED -HP:0004319 Hypoaldosteronism NOT_TRANSLATED -HP:0004319 Low blood aldosterone level NOT_TRANSLATED -HP:0004319 Mineralocorticoid insufficiency NOT_TRANSLATED -HP:0004322 Decreased body height NOT_TRANSLATED -HP:0004322 Height less than 3rd percentile NOT_TRANSLATED -HP:0004322 Small stature NOT_TRANSLATED -HP:0004322 Stature below 3rd percentile NOT_TRANSLATED -HP:0004323 Abnormality of habitus NOT_TRANSLATED -HP:0004324 Weight gain NOT_TRANSLATED -HP:0004325 Decreased weight NOT_TRANSLATED -HP:0004325 Low body weight NOT_TRANSLATED -HP:0004325 Low weight NOT_TRANSLATED -HP:0004325 Weight less than 3rd percentile NOT_TRANSLATED -HP:0004326 Wasting syndrome NOT_TRANSLATED -HP:0004327 Abnormal vitreous humour morphology NOT_TRANSLATED -HP:0004328 Abnormal anterior segment morphology NOT_TRANSLATED -HP:0004328 Abnormality of the anterior segment of the eye NOT_TRANSLATED -HP:0004328 Abnormality of the anterior segment of the eyeball NOT_TRANSLATED -HP:0004328 Abnormality of the anterior segment of the globe NOT_TRANSLATED -HP:0004329 Abnormal morphology of the posterior segment of the globe NOT_TRANSLATED -HP:0004329 Abnormality of the posterior segment of the eye NOT_TRANSLATED -HP:0004329 Abnormality of the posterior segment of the eyeball NOT_TRANSLATED -HP:0004329 Abnormality of the posterior segment of the globe NOT_TRANSLATED -HP:0004330 Hyperossification of skull NOT_TRANSLATED -HP:0004330 Hyperostosis of skull NOT_TRANSLATED -HP:0004330 Increased calcification of skull NOT_TRANSLATED -HP:0004330 Increased Mineralization of skull NOT_TRANSLATED -HP:0004330 Sclerosis of bones of skull NOT_TRANSLATED -HP:0004330 Sclerosis of skull NOT_TRANSLATED -HP:0004331 Decreased bone formation of skull NOT_TRANSLATED -HP:0004331 Decreased calcification of skull NOT_TRANSLATED -HP:0004331 Decreased mineralization of skull NOT_TRANSLATED -HP:0004331 Deficient skull ossification NOT_TRANSLATED -HP:0004331 Hypoossification of skull NOT_TRANSLATED -HP:0004331 Ossification defect of skull NOT_TRANSLATED -HP:0004331 Poorly mineralized skull NOT_TRANSLATED -HP:0004331 Poorly ossified skull NOT_TRANSLATED -HP:0004331 Poorly ossified skull bones NOT_TRANSLATED -HP:0004332 Abnormal lymphocytes NOT_TRANSLATED -HP:0004332 Abnormality of cells of the lymphoid lineage NOT_TRANSLATED -HP:0004333 Bone marrow foam cells NOT_TRANSLATED -HP:0004333 Large vacuolated foam cells ('NP cells') on bone marrow biopsy NOT_TRANSLATED -HP:0004333 Large vacuolated foam cells on bone marrow biopsy NOT_TRANSLATED -HP:0004334 Atrophic skin NOT_TRANSLATED -HP:0004334 Skin atrophy NOT_TRANSLATED -HP:0004334 Skin degeneration NOT_TRANSLATED -HP:0004336 Excessive focal folding of myelin sheaths NOT_TRANSLATED -HP:0004336 Irregular myelin foldings NOT_TRANSLATED -HP:0004337 Amino acid levels abnormal NOT_TRANSLATED -HP:0004338 Abnormality of aromatic amino acid family metabolism NOT_TRANSLATED -HP:0004339 Abnormal circulating sulphur amino acid concentration NOT_TRANSLATED -HP:0004339 Abnormality of sulfur-containing amino acids NOT_TRANSLATED -HP:0004340 Abnormality of B-vitamin metabolism NOT_TRANSLATED -HP:0004341 Abnormality of the vitamin B12 metabolism NOT_TRANSLATED -HP:0004343 Abnormality of glycosphingolipid metabolism NOT_TRANSLATED -HP:0004348 Abnormality of bone mineralisation and ossification NOT_TRANSLATED -HP:0004349 Decreased bone mineral density NOT_TRANSLATED -HP:0004349 Decreased bone mineral density Z score NOT_TRANSLATED -HP:0004349 Low solidness and mass of the bones NOT_TRANSLATED -HP:0004352 Abnormal circulating purine level NOT_TRANSLATED -HP:0004359 Abnormality of fatty acid metabolism NOT_TRANSLATED -HP:0004359 Fatty acids abnormal NOT_TRANSLATED -HP:0004360 Acid base imbalance NOT_TRANSLATED -HP:0004361 Abnormality of circulating leptin level NOT_TRANSLATED -HP:0004362 Abnormality of the enteric ganglia NOT_TRANSLATED -HP:0004363 Abnormal blood calcium concentration NOT_TRANSLATED -HP:0004363 Abnormal blood calcium levels NOT_TRANSLATED -HP:0004363 Abnormal circulating Ca concentration NOT_TRANSLATED -HP:0004363 Abnormal circulating Ca2+ concentration NOT_TRANSLATED -HP:0004365 Abnormality of tryptophan metabolism NOT_TRANSLATED -HP:0004368 Increased purine level NOT_TRANSLATED -HP:0004368 Increased purine levels NOT_TRANSLATED -HP:0004369 Decreased purine level NOT_TRANSLATED -HP:0004369 Decreased purine levels NOT_TRANSLATED -HP:0004370 Body temperature changes NOT_TRANSLATED -HP:0004370 Poor temperature regulation NOT_TRANSLATED -HP:0004372 Disturbances of consciousness NOT_TRANSLATED -HP:0004372 Lowered consciousness NOT_TRANSLATED -HP:0004374 Paralysis or weakness of one side of body NOT_TRANSLATED -HP:0004375 Neoplasia of the nervous system NOT_TRANSLATED -HP:0004375 Nervous system cancer NOT_TRANSLATED -HP:0004375 Tumor of the nervous system NOT_TRANSLATED -HP:0004375 Tumour of the nervous system NOT_TRANSLATED -HP:0004376 Neuroblastic tumour NOT_TRANSLATED -HP:0004377 Blood tumor NOT_TRANSLATED -HP:0004377 Blood tumour NOT_TRANSLATED -HP:0004377 Haematological neoplasm NOT_TRANSLATED -HP:0004379 Abnormality of alkaline phosphatase activity NOT_TRANSLATED -HP:0004379 Abnormality of ALP level NOT_TRANSLATED -HP:0004379 Alkaline phosphatase abnormal NOT_TRANSLATED -HP:0004383 Heart left ventricle hypoplasia NOT_TRANSLATED -HP:0004383 Left ventricular hypoplasia NOT_TRANSLATED -HP:0004383 Underdeveloped left heart NOT_TRANSLATED -HP:0004384 Persistent truncus arteriosus type I NOT_TRANSLATED -HP:0004384 Type 1 truncus arteriosus NOT_TRANSLATED -HP:0004385 Protracted diarrhoea NOT_TRANSLATED -HP:0004386 GI inflammation NOT_TRANSLATED -HP:0004388 Microcolon on contrast enema NOT_TRANSLATED -HP:0004389 Intestinal pseudoobstruction NOT_TRANSLATED -HP:0004390 Gastrointestinal hamartoma NOT_TRANSLATED -HP:0004390 Gastrointestinal hamartomatous polyps NOT_TRANSLATED -HP:0004390 Hamartomatous polyps NOT_TRANSLATED -HP:0004396 Decreased appetite NOT_TRANSLATED -HP:0004396 Loss of appetite NOT_TRANSLATED -HP:0004396 No appetite NOT_TRANSLATED -HP:0004397 Abnormal anus position NOT_TRANSLATED -HP:0004397 Anus malposition NOT_TRANSLATED -HP:0004398 Sore in the lining of gastrointestinal tract NOT_TRANSLATED -HP:0004401 Distal intestinal obstruction syndrome NOT_TRANSLATED -HP:0004401 Meconium ileus in neonates NOT_TRANSLATED -HP:0004401 Meconium ileus on ultrasonography NOT_TRANSLATED -HP:0004404 Abnormality of the nipple NOT_TRANSLATED -HP:0004406 Recurrent epistaxes NOT_TRANSLATED -HP:0004406 Recurrent epistaxis NOT_TRANSLATED -HP:0004406 Recurring nosebleed NOT_TRANSLATED -HP:0004406 Spontaneous, recurrent nosebleed NOT_TRANSLATED -HP:0004408 Abnormal sense of smell NOT_TRANSLATED -HP:0004408 Abnormality of olfaction NOT_TRANSLATED -HP:0004408 Smell defect NOT_TRANSLATED -HP:0004409 Decreased smell sensation NOT_TRANSLATED -HP:0004409 Sense of smell impaired NOT_TRANSLATED -HP:0004411 Crooked nasal septum NOT_TRANSLATED -HP:0004411 Crooked septum of nose NOT_TRANSLATED -HP:0004411 Deviated septum of nose NOT_TRANSLATED -HP:0004414 Abnormality of lung artery NOT_TRANSLATED -HP:0004415 Narrowing of lung artery NOT_TRANSLATED -HP:0004416 Premature atherosclerosis NOT_TRANSLATED -HP:0004416 Premature plaque build-up in arteries NOT_TRANSLATED -HP:0004419 Recurrent phlebitis NOT_TRANSLATED -HP:0004419 Recurrent thrombosis NOT_TRANSLATED -HP:0004420 Blood clot in artery NOT_TRANSLATED -HP:0004421 Elevated systolic BP NOT_TRANSLATED -HP:0004422 Decreased width of the skull NOT_TRANSLATED -HP:0004425 Flattened forehead NOT_TRANSLATED -HP:0004425 Frontal flattening NOT_TRANSLATED -HP:0004426 Abnormality of the cheek NOT_TRANSLATED -HP:0004426 Abnormality of the cheeks NOT_TRANSLATED -HP:0004426 Anomaly of the cheeks NOT_TRANSLATED -HP:0004426 Deformity of the cheeks NOT_TRANSLATED -HP:0004426 Malformation of the cheeks NOT_TRANSLATED -HP:0004428 Elf-like facial appearance NOT_TRANSLATED -HP:0004428 Elf-like facial features NOT_TRANSLATED -HP:0004428 Leprechaun facies NOT_TRANSLATED -HP:0004430 Immunodeficiency, severe combined NOT_TRANSLATED -HP:0004432 Agammaglobulinaemia NOT_TRANSLATED -HP:0004434 C8 deficiency NOT_TRANSLATED -HP:0004437 Enlargement of skull bones NOT_TRANSLATED -HP:0004437 Excessive growth of skull bones NOT_TRANSLATED -HP:0004437 Hyperostosis of cranial bones NOT_TRANSLATED -HP:0004437 Hyperostosis of cranial vault NOT_TRANSLATED -HP:0004437 Hypertrophy of cranial bones NOT_TRANSLATED -HP:0004437 Increased ossification of cranial bones NOT_TRANSLATED -HP:0004437 Overgrowth of skull bones NOT_TRANSLATED -HP:0004437 Thick skull bones NOT_TRANSLATED -HP:0004438 Enlargement of the inner surface of the frontal bone NOT_TRANSLATED -HP:0004438 Excessive growth of inner surface of the frontal bone NOT_TRANSLATED -HP:0004438 Hyperostosis of the internal surface of the frontal bone NOT_TRANSLATED -HP:0004438 Hypertrophy of the internal surface of the frontal bone NOT_TRANSLATED -HP:0004438 Increased ossification of the internal surface of the frontal bone NOT_TRANSLATED -HP:0004438 Overgrowth of the inner surface of the frontal bone NOT_TRANSLATED -HP:0004438 Overgrowth of the inside of the frontal bone NOT_TRANSLATED -HP:0004438 Thick inner surface of the frontal bone NOT_TRANSLATED -HP:0004438 Thick internal surface of the frontal bone NOT_TRANSLATED -HP:0004439 Crouzon syndrome NOT_TRANSLATED -HP:0004440 Coronal suture craniosynostosis NOT_TRANSLATED -HP:0004440 Coronal suture synostosis NOT_TRANSLATED -HP:0004440 Craniosynostosis of coronal suture NOT_TRANSLATED -HP:0004442 Craniosynostosis, sagittal NOT_TRANSLATED -HP:0004442 Craniosynostosis, sagittal suture NOT_TRANSLATED -HP:0004442 Early closure of midline skull joint NOT_TRANSLATED -HP:0004442 Midline skull joint closes early NOT_TRANSLATED -HP:0004442 Sagittal suture synostosis NOT_TRANSLATED -HP:0004443 Lambdoid suture craniosynostosis NOT_TRANSLATED -HP:0004443 Lambdoid suture synostosis NOT_TRANSLATED -HP:0004445 Elliptocyte NOT_TRANSLATED -HP:0004445 Hereditary elliptocytosis NOT_TRANSLATED -HP:0004445 Ovalocytes NOT_TRANSLATED -HP:0004445 Ovalocytosis NOT_TRANSLATED -HP:0004446 erythrocyte stomatocytes NOT_TRANSLATED -HP:0004446 Red cell stomatocytosis NOT_TRANSLATED -HP:0004450 Preauricular skin furrows NOT_TRANSLATED -HP:0004450 Preauricular skin groove NOT_TRANSLATED -HP:0004450 Preauricular skin sulcus NOT_TRANSLATED -HP:0004450 Skin groove in front of the ear NOT_TRANSLATED -HP:0004450 Skin sulcus in front of the ear NOT_TRANSLATED -HP:0004451 Postauricular acrochordon NOT_TRANSLATED -HP:0004451 Postauricular fibroepithelial polyp NOT_TRANSLATED -HP:0004451 Skin tag behind the ear NOT_TRANSLATED -HP:0004452 Malformed ossicles NOT_TRANSLATED -HP:0004452 Ossicular malformation NOT_TRANSLATED -HP:0004453 Overfolding of superior helix NOT_TRANSLATED -HP:0004458 Bulbous internal auditory canal NOT_TRANSLATED -HP:0004458 Enlarged internal auditory canal NOT_TRANSLATED -HP:0004459 External auditory canal exostoses NOT_TRANSLATED -HP:0004463 No auditory brainstem response NOT_TRANSLATED -HP:0004464 Pit behind the ear NOT_TRANSLATED -HP:0004464 Postauricular earpits NOT_TRANSLATED -HP:0004464 Postauricular fistula NOT_TRANSLATED -HP:0004464 Posterior auricular pit NOT_TRANSLATED -HP:0004464 Posterior auricular sinus NOT_TRANSLATED -HP:0004467 Ear pit NOT_TRANSLATED -HP:0004467 Pit in front of the ear NOT_TRANSLATED -HP:0004467 Preauricular earpits NOT_TRANSLATED -HP:0004467 Preauricular fistulas NOT_TRANSLATED -HP:0004467 Preauricular pits NOT_TRANSLATED -HP:0004467 Preauricular sinus NOT_TRANSLATED -HP:0004468 Abnormal tracheal cartilaginous ring NOT_TRANSLATED -HP:0004471 Absent cutis congenita of vertex NOT_TRANSLATED -HP:0004471 Aplasia cutis congenita of vertex NOT_TRANSLATED -HP:0004472 Excessive growth of mandibular bone NOT_TRANSLATED -HP:0004472 Hyperostosis of lower jaw NOT_TRANSLATED -HP:0004472 Hyperostosis of mandibular bone NOT_TRANSLATED -HP:0004472 Increased ossification of lower jaw NOT_TRANSLATED -HP:0004472 Increased ossification of mandible NOT_TRANSLATED -HP:0004472 Increased ossification of mandibular bone NOT_TRANSLATED -HP:0004472 Overgrowth of mandibular bone NOT_TRANSLATED -HP:0004472 Thick lower jaw bone NOT_TRANSLATED -HP:0004472 Thick mandibular bone NOT_TRANSLATED -HP:0004474 Anterior fontanelle open in adults NOT_TRANSLATED -HP:0004474 Front fontanelle stays open NOT_TRANSLATED -HP:0004474 Persistent, open anterior fontanel NOT_TRANSLATED -HP:0004476 Absent cutis congenita over parietal area NOT_TRANSLATED -HP:0004481 Macrocephaly, progressive NOT_TRANSLATED -HP:0004481 Progressively abnormally enlarging cranium NOT_TRANSLATED -HP:0004481 Progressively abnormally enlarging skull NOT_TRANSLATED -HP:0004482 Disproportionately large head NOT_TRANSLATED -HP:0004482 Macrocephaly, relative NOT_TRANSLATED -HP:0004482 Relatively large head NOT_TRANSLATED -HP:0004484 Abnormality of craniofacial shape NOT_TRANSLATED -HP:0004484 Malformation of craniofacial shape NOT_TRANSLATED -HP:0004484 Uneven craniofacial structures NOT_TRANSLATED -HP:0004485 Cranium stopped growing NOT_TRANSLATED -HP:0004485 Head stopped growing NOT_TRANSLATED -HP:0004485 Skull stopped growing NOT_TRANSLATED -HP:0004488 Big cranium present at birth NOT_TRANSLATED -HP:0004488 Big cranium present since birth NOT_TRANSLATED -HP:0004488 Big head present at birth NOT_TRANSLATED -HP:0004488 Big head present since birth NOT_TRANSLATED -HP:0004488 Big skull present at birth NOT_TRANSLATED -HP:0004488 Big skull present since birth NOT_TRANSLATED -HP:0004488 Congenital large cranium NOT_TRANSLATED -HP:0004488 Congenital large head NOT_TRANSLATED -HP:0004488 Congenital large skull NOT_TRANSLATED -HP:0004488 Congenital macrocephaly NOT_TRANSLATED -HP:0004488 Head circumference large for gestational age NOT_TRANSLATED -HP:0004488 Large cranium present at birth NOT_TRANSLATED -HP:0004488 Large cranium present since birth NOT_TRANSLATED -HP:0004488 Large head present at birth NOT_TRANSLATED -HP:0004488 Large head present since birth NOT_TRANSLATED -HP:0004488 Large skull present at birth NOT_TRANSLATED -HP:0004488 Large skull present since birth NOT_TRANSLATED -HP:0004490 Enlargement of calvarial bones NOT_TRANSLATED -HP:0004490 Excessive growth of calvarial bones NOT_TRANSLATED -HP:0004490 Hyperostosis of calvarial bones NOT_TRANSLATED -HP:0004490 Hypertrophy of calvarial bones NOT_TRANSLATED -HP:0004490 Increased ossification of calvarial bones NOT_TRANSLATED -HP:0004490 Overgrowth of calvarial bones NOT_TRANSLATED -HP:0004490 Overgrowth of skullcap NOT_TRANSLATED -HP:0004490 Thick calvarial bones NOT_TRANSLATED -HP:0004491 Large posterior fontanel NOT_TRANSLATED -HP:0004492 Widely patent fontanels and sutures NOT_TRANSLATED -HP:0004493 Enlargement of craniofacial bones NOT_TRANSLATED -HP:0004493 Excessive bone growth of the skull and face NOT_TRANSLATED -HP:0004493 Excessive growth of craniofacial bones NOT_TRANSLATED -HP:0004493 Hyperostosis of craniofacial bones NOT_TRANSLATED -HP:0004493 Hypertrophy of craniofacial bones NOT_TRANSLATED -HP:0004493 Increased ossification of craniofacial bones NOT_TRANSLATED -HP:0004493 Overgrowth of craniofacial bones NOT_TRANSLATED -HP:0004493 Thick craniofacial bones NOT_TRANSLATED -HP:0004499 Chronic nasal inflammation due to narrow nasal airway NOT_TRANSLATED -HP:0004502 Bilateral blockage of the rear opening of the nasal cavity NOT_TRANSLATED -HP:0004502 Bilateral obstruction of the rear opening of the nasal cavity NOT_TRANSLATED -HP:0004510 Hyperplastic islets of langerhans NOT_TRANSLATED -HP:0004510 Hypertrophic pancreatic islets NOT_TRANSLATED -HP:0004510 Islet of Langerhans hyperplasia NOT_TRANSLATED -HP:0004510 Islets of langerhans hypertrophy NOT_TRANSLATED -HP:0004510 Pancreatic islet-cell hypertrophy NOT_TRANSLATED -HP:0004523 Elongated eyebrow NOT_TRANSLATED -HP:0004523 Increased horizontal length of eyebrow NOT_TRANSLATED -HP:0004523 Increased transverse length of eyebrow NOT_TRANSLATED -HP:0004524 Reduced hair growth in temporal region NOT_TRANSLATED -HP:0004528 Generalised hypotrichosis NOT_TRANSLATED -HP:0004528 Hypotrichosis, generalised NOT_TRANSLATED -HP:0004528 Hypotrichosis, generalized NOT_TRANSLATED -HP:0004535 Congenital cervical hypertrichosis NOT_TRANSLATED -HP:0004535 Hypertrichosis, congenital anterior cervical NOT_TRANSLATED -HP:0004540 Congenital generalised hypertrichosis NOT_TRANSLATED -HP:0004540 Congenital generalized hypertrichosis NOT_TRANSLATED -HP:0004540 Congenital, generalised hypertrichosis NOT_TRANSLATED -HP:0004540 Hypertrichosis universalis NOT_TRANSLATED -HP:0004552 Cicatricial alopecia NOT_TRANSLATED -HP:0004552 Hair loss on scalp from scarring condition NOT_TRANSLATED -HP:0004554 Generalised hypertrichosis NOT_TRANSLATED -HP:0004558 Flattened cervical vertebral bodies NOT_TRANSLATED -HP:0004563 Compact spinal bone NOT_TRANSLATED -HP:0004563 Concrete spinal bone NOT_TRANSLATED -HP:0004563 Dense spinal bone NOT_TRANSLATED -HP:0004563 Eburnation of spinal bone NOT_TRANSLATED -HP:0004563 Increased density of spinal bone NOT_TRANSLATED -HP:0004563 Increased spinal bone density Z-score NOT_TRANSLATED -HP:0004563 Ivory spinal bone NOT_TRANSLATED -HP:0004563 Sclerosis of spinal bone NOT_TRANSLATED -HP:0004565 platyspondyly, extreme NOT_TRANSLATED -HP:0004566 Pear-shaped vertebral bodies NOT_TRANSLATED -HP:0004568 anterior beaking NOT_TRANSLATED -HP:0004568 Anterior beaking of vertebrae NOT_TRANSLATED -HP:0004568 Anterior beaking of vertebral bodies NOT_TRANSLATED -HP:0004568 Beaked vertebral bodies NOT_TRANSLATED -HP:0004568 Vertebral tongue-like protrusion NOT_TRANSLATED -HP:0004570 Tall vertebral bodies NOT_TRANSLATED -HP:0004573 Anterior wedging of the 11th thoracic vertebra NOT_TRANSLATED -HP:0004573 Wedge-shaped 11th thoracic vertebra NOT_TRANSLATED -HP:0004576 Endplate sclerosis NOT_TRANSLATED -HP:0004580 Anterior scalloping vertebral bodies NOT_TRANSLATED -HP:0004586 Biconcave 'codfish' vertebrae NOT_TRANSLATED -HP:0004586 Biconcave vertebrae NOT_TRANSLATED -HP:0004586 Codfish vertebrae NOT_TRANSLATED -HP:0004586 Fish vertebrae NOT_TRANSLATED -HP:0004586 Scalloping of vertebral bodies NOT_TRANSLATED -HP:0004590 Small sacrum NOT_TRANSLATED -HP:0004598 Supernumerary vertebral ossification centres NOT_TRANSLATED -HP:0004602 Fusion of cervical vertebrae c2-3 NOT_TRANSLATED -HP:0004602 Klippel-Feil anomaly NOT_TRANSLATED -HP:0004602 Klippel-Feil syndrome NOT_TRANSLATED -HP:0004610 Lumbar spinal stenosis NOT_TRANSLATED -HP:0004610 Narrow lumbar spinal canal NOT_TRANSLATED -HP:0004611 Anteriorly concave vertebrae NOT_TRANSLATED -HP:0004616 Cleft vertebral arches NOT_TRANSLATED -HP:0004621 Hyperplastic vertebral pedicles NOT_TRANSLATED -HP:0004629 Small cervical vertebrae NOT_TRANSLATED -HP:0004631 Contracture of post-cervical muscles NOT_TRANSLATED -HP:0004631 Inability to touch chin to chest NOT_TRANSLATED -HP:0004632 Cervical spine segmentation defect NOT_TRANSLATED -HP:0004633 Round mid-back NOT_TRANSLATED -HP:0004634 Cuboid vertebral bodies NOT_TRANSLATED -HP:0004637 Limited neck movement NOT_TRANSLATED -HP:0004639 Elevated amniotic fluid alpha fetal protein NOT_TRANSLATED -HP:0004639 Elevated amniotic fluid alpha foetal protein NOT_TRANSLATED -HP:0004639 Elevated amniotic fluid alpha-1-fetoprotein NOT_TRANSLATED -HP:0004639 Elevated amniotic fluid alpha-fetoglobulin NOT_TRANSLATED -HP:0004646 Decreased size of nasal bone NOT_TRANSLATED -HP:0004646 Deficiency of nasal bone NOT_TRANSLATED -HP:0004646 Hypotrophic nasal bone NOT_TRANSLATED -HP:0004646 Nasal bone hypoplasia NOT_TRANSLATED -HP:0004646 Small nasal bone NOT_TRANSLATED -HP:0004646 Underdevelopment of nasal bone NOT_TRANSLATED -HP:0004660 Atrophy of facial musculature NOT_TRANSLATED -HP:0004660 Decreased size of facial muscles NOT_TRANSLATED -HP:0004660 Deficiency of facial musculature NOT_TRANSLATED -HP:0004660 Hypotrophic facial musculature NOT_TRANSLATED -HP:0004660 Small facial muscles NOT_TRANSLATED -HP:0004660 Underdevelopment of facial muscles NOT_TRANSLATED -HP:0004661 Weak frontalis muscle NOT_TRANSLATED -HP:0004661 Weakness of forehead muscle NOT_TRANSLATED -HP:0004679 Large ankle bones NOT_TRANSLATED -HP:0004681 Foot crease NOT_TRANSLATED -HP:0004681 Longitudinal groove on soles NOT_TRANSLATED -HP:0004686 Hypoplasia of the 3rd metatarsal bone NOT_TRANSLATED -HP:0004686 Short 3rd long bone of foot NOT_TRANSLATED -HP:0004688 Abnormal shape of ankle bones NOT_TRANSLATED -HP:0004689 Bilateral fourth metatarsal shortening NOT_TRANSLATED -HP:0004689 Short 4th long bone of foot NOT_TRANSLATED -HP:0004689 Short fourth metatarsals NOT_TRANSLATED -HP:0004689 Short fourth metatarsus NOT_TRANSLATED -HP:0004691 2-3 syndactyly of feet NOT_TRANSLATED -HP:0004691 2-3 toe soft tissue syndactyly NOT_TRANSLATED -HP:0004691 2-3 toes syndactyly NOT_TRANSLATED -HP:0004691 partial or complete syndactyly 2nd-3rd toes NOT_TRANSLATED -HP:0004691 Syndactyly of second and third toes NOT_TRANSLATED -HP:0004691 Toe syndactyly, 2-3 NOT_TRANSLATED -HP:0004691 Webbed 2nd and 3rd toes NOT_TRANSLATED -HP:0004692 Symmetric syndactyly, toes 4 and 5 NOT_TRANSLATED -HP:0004692 Syndactyly of toes 4 and 5 NOT_TRANSLATED -HP:0004692 Webbed 4th-5th toes NOT_TRANSLATED -HP:0004704 Hypoplasia of the fifth metatarsal bone NOT_TRANSLATED -HP:0004704 Short 5th long bone of foot NOT_TRANSLATED -HP:0004712 Abnormal rotation of the kidneys NOT_TRANSLATED -HP:0004712 Malrotation of the kidney NOT_TRANSLATED -HP:0004713 Reversible kidney failure NOT_TRANSLATED -HP:0004719 Echogenic kidneys NOT_TRANSLATED -HP:0004719 Increased echogenicity of the renal parenchyma NOT_TRANSLATED -HP:0004724 Calcium niersteen CANDIDATE -HP:0004727 Urine concentrating defect NOT_TRANSLATED -HP:0004727 Urine concentration defect NOT_TRANSLATED -HP:0004734 Cortical microcysts NOT_TRANSLATED -HP:0004734 Multiple renal cortical microcysts NOT_TRANSLATED -HP:0004734 Multiple small renal cortical cysts NOT_TRANSLATED -HP:0004736 Crossed-fused renal ectopia NOT_TRANSLATED -HP:0004736 Ectopic kidney with fusion NOT_TRANSLATED -HP:0004742 Abnormal collecting system NOT_TRANSLATED -HP:0004742 Abnormality of the renal collecting system NOT_TRANSLATED -HP:0004742 Renal collecting system anomalies NOT_TRANSLATED -HP:0004746 Dense deposit disease NOT_TRANSLATED -HP:0004746 Membranoproliferative glomerulonephritis type II NOT_TRANSLATED -HP:0004751 Episodes of ventricular tachycardia NOT_TRANSLATED -HP:0004754 Chronic atrial fibrillation NOT_TRANSLATED -HP:0004755 Supraventricular tachyarrhythmia NOT_TRANSLATED -HP:0004755 SVT NOT_TRANSLATED -HP:0004757 Atrial fibrillation, paroxysmal NOT_TRANSLATED -HP:0004757 Intermittent atrial fibrillation NOT_TRANSLATED -HP:0004757 Paroxysmal AF NOT_TRANSLATED -HP:0004758 Catecholaminergic polymorphic ventricular tachycardia NOT_TRANSLATED -HP:0004758 Exercise-induced polymorphic ventricular tachycardia NOT_TRANSLATED -HP:0004762 Heart right ventricle hypoplasia NOT_TRANSLATED -HP:0004762 Small right heart chamber NOT_TRANSLATED -HP:0004762 Underdeveloped right heart chamber NOT_TRANSLATED -HP:0004763 Episodic rapid heart beat NOT_TRANSLATED -HP:0004763 Episodic supraventricular tachycardia NOT_TRANSLATED -HP:0004768 Sparse scalp hair at front of head NOT_TRANSLATED -HP:0004768 Thin scalp hair at front of head NOT_TRANSLATED -HP:0004771 Premature greying of body hair NOT_TRANSLATED -HP:0004780 Hairy elbow NOT_TRANSLATED -HP:0004780 Hairy elbow syndrome NOT_TRANSLATED -HP:0004780 Hypertrichosis cubiti NOT_TRANSLATED -HP:0004780 Pilosity of elbow NOT_TRANSLATED -HP:0004783 Multiple duodenal polyps NOT_TRANSLATED -HP:0004784 Juvenile GI polyposis NOT_TRANSLATED -HP:0004789 Milk intolerance NOT_TRANSLATED -HP:0004790 Underdeveloped small intestine NOT_TRANSLATED -HP:0004791 Esophagus ulcer NOT_TRANSLATED -HP:0004791 Oesophagus ulcer NOT_TRANSLATED -HP:0004791 Oesophagus ulceration NOT_TRANSLATED -HP:0004794 Malrotation of the small intestine NOT_TRANSLATED -HP:0004796 GI obstruction NOT_TRANSLATED -HP:0004796 Obstruction in digestive tract NOT_TRANSLATED -HP:0004798 Gastrointestinal infections NOT_TRANSLATED -HP:0004798 Gastrointestinal infections, recurrent NOT_TRANSLATED -HP:0004798 Recurrent gastrointestinal infections NOT_TRANSLATED -HP:0004798 Recurrent infection of the GI tract NOT_TRANSLATED -HP:0004802 Episodic hemolysis NOT_TRANSLATED -HP:0004802 Episodic hemolytic anaemia NOT_TRANSLATED -HP:0004804 Congenital haemolytic anaemia NOT_TRANSLATED -HP:0004804 Congenital haemolytic anemia NOT_TRANSLATED -HP:0004804 Congenital hemolytic anaemia NOT_TRANSLATED -HP:0004804 Neonatal hemolytic anaemia NOT_TRANSLATED -HP:0004804 Neonatal hemolytic anemia NOT_TRANSLATED -HP:0004808 Acute myeloblastic leukaemia NOT_TRANSLATED -HP:0004808 Acute myeloblastic leukemia NOT_TRANSLATED -HP:0004808 Acute myelocytic leukaemia NOT_TRANSLATED -HP:0004808 Acute myelocytic leukemia NOT_TRANSLATED -HP:0004808 Acute myelogenous leukaemia NOT_TRANSLATED -HP:0004808 Acute myelogenous leukemia NOT_TRANSLATED -HP:0004808 Acute myeloid leukaemia NOT_TRANSLATED -HP:0004808 AML NOT_TRANSLATED -HP:0004810 Congenital dyserythropoietic anaemia NOT_TRANSLATED -HP:0004810 Congenital dyserythropoietic anemia NOT_TRANSLATED -HP:0004810 Congenital hypoplastic anaemia NOT_TRANSLATED -HP:0004812 B Acute Lymphoblastic Leukaemia NOT_TRANSLATED -HP:0004812 Pre-B-cell acute lymphoblastic leukaemia NOT_TRANSLATED -HP:0004812 Pre-B-cell acute lymphoblastic leukemia NOT_TRANSLATED -HP:0004813 Post-transfusion purpura NOT_TRANSLATED -HP:0004814 Fava bean-induced hemolytic anaemia NOT_TRANSLATED -HP:0004814 Hemolytic anaemia following ingestion of fava beans NOT_TRANSLATED -HP:0004814 Hemolytic anemia following ingestion of fava beans NOT_TRANSLATED -HP:0004817 Drug-sensitive hemolytic anaemia NOT_TRANSLATED -HP:0004818 Paroxysmal nocturnal haemoglobinuria NOT_TRANSLATED -HP:0004819 Normocytic hypoplastic anaemia NOT_TRANSLATED -HP:0004820 Acute myelomonocytic leukaemia NOT_TRANSLATED -HP:0004821 Hypermature neutrophils NOT_TRANSLATED -HP:0004821 Hypersegmentation of neutrophil nuclei in peripheral blood NOT_TRANSLATED -HP:0004825 Increased haemoglobin O2 affinity NOT_TRANSLATED -HP:0004825 Increased haemoglobin oxygen affinity NOT_TRANSLATED -HP:0004825 Increased Hb O2 affinity NOT_TRANSLATED -HP:0004825 Increased Hb oxygen affinity NOT_TRANSLATED -HP:0004825 Increased hemoglobin O2 affinity NOT_TRANSLATED -HP:0004826 Folate-unresponsive megaloblastic anaemia NOT_TRANSLATED -HP:0004828 Myelodysplasia with sideroblastosis NOT_TRANSLATED -HP:0004828 Refractory anaemia with ringed sideroblasts NOT_TRANSLATED -HP:0004831 Recurrent thromboembolic disease NOT_TRANSLATED -HP:0004836 Acute promyelocytic leukaemia NOT_TRANSLATED -HP:0004839 hereditary pyropoikilocytosis NOT_TRANSLATED -HP:0004840 Hypochromic microcytic anaemia NOT_TRANSLATED -HP:0004840 Hypochromic, microcytic anaemia NOT_TRANSLATED -HP:0004840 Hypochromic, microcytic anemia NOT_TRANSLATED -HP:0004841 Factor XII deficiency NOT_TRANSLATED -HP:0004841 Hageman factor deficiency NOT_TRANSLATED -HP:0004844 Coombs-positive hemolytic anaemia NOT_TRANSLATED -HP:0004844 Direct Coombs positive NOT_TRANSLATED -HP:0004845 Acute monoblastic leukaemia NOT_TRANSLATED -HP:0004845 Acute monoblastic leukemia NOT_TRANSLATED -HP:0004845 Acute monocytic leukaemia NOT_TRANSLATED -HP:0004845 AML-M5 NOT_TRANSLATED -HP:0004845 AMoL NOT_TRANSLATED -HP:0004846 Excessive bleeding during surgery NOT_TRANSLATED -HP:0004846 Protracted bleeding after surgery NOT_TRANSLATED -HP:0004848 Ph-positive acute lymphoblastic leukaemia NOT_TRANSLATED -HP:0004848 Philadelphia-positive acute lymphoblastic leukaemia NOT_TRANSLATED -HP:0004848 Philadelphia-positive acute lymphoblastic leukemia NOT_TRANSLATED -HP:0004850 Recurrent deep vein blood clot NOT_TRANSLATED -HP:0004850 Recurrent venous thrombosis NOT_TRANSLATED -HP:0004851 Folate-responsive megaloblastic anaemia NOT_TRANSLATED -HP:0004852 Low leukocyte alkaline phosphatase NOT_TRANSLATED -HP:0004852 Reduced leukocyte ALP NOT_TRANSLATED -HP:0004855 Protein S deficiency NOT_TRANSLATED -HP:0004856 Normochromic microcytic anaemia NOT_TRANSLATED -HP:0004857 Hyperchromic macrocytic anaemia NOT_TRANSLATED -HP:0004860 Thiamine-responsive megaloblastic anaemia NOT_TRANSLATED -HP:0004861 Refractory macrocytic anaemia NOT_TRANSLATED -HP:0004863 Compensated hemolytic anaemia NOT_TRANSLATED -HP:0004864 Refractory sideroblastic anaemia NOT_TRANSLATED -HP:0004870 Chronic hemolytic anaemia NOT_TRANSLATED -HP:0004870 hemolytic anemia, chronic NOT_TRANSLATED -HP:0004872 Recurrent abdominal hernia NOT_TRANSLATED -HP:0004876 Neonatal pneumothorax NOT_TRANSLATED -HP:0004878 Dependence on diaphragmatic breathing NOT_TRANSLATED -HP:0004878 Muscle weakness between ribs NOT_TRANSLATED -HP:0004879 Episodic hyperventilation NOT_TRANSLATED -HP:0004879 Intermittent overbreathing NOT_TRANSLATED -HP:0004881 Episodic slow breathing NOT_TRANSLATED -HP:0004881 Episodic under breathing NOT_TRANSLATED -HP:0004885 Episodic difficulty breathing NOT_TRANSLATED -HP:0004885 respiratory distress, episodic NOT_TRANSLATED -HP:0004887 Respiratory distress necessitating mechanical ventilation NOT_TRANSLATED -HP:0004887 Respiratory distress requiring endotracheal intubation NOT_TRANSLATED -HP:0004887 Respiratory distress requiring mechanical ventilation NOT_TRANSLATED -HP:0004890 Elevated lung artery pressure NOT_TRANSLATED -HP:0004890 increased pulmonary artery pressure NOT_TRANSLATED -HP:0004897 Metabolic crises during febrile infections NOT_TRANSLATED -HP:0004901 Exercise-induced lactic acidosis NOT_TRANSLATED -HP:0004904 Maturity onset diabetes of the young NOT_TRANSLATED -HP:0004904 MODY NOT_TRANSLATED -HP:0004905 Vitamin A deficiency NOT_TRANSLATED -HP:0004910 HCO3-wasting renal tubular acidosis NOT_TRANSLATED -HP:0004910 Renal bicarbonate wasting NOT_TRANSLATED -HP:0004911 Recurrent episodes of acidosis NOT_TRANSLATED -HP:0004914 Episodic infantile hypoglycemia NOT_TRANSLATED -HP:0004914 Recurrent low blood sugar in infant NOT_TRANSLATED -HP:0004915 Impaired galactose metabolism NOT_TRANSLATED -HP:0004916 Generalised distal tubular acidosis NOT_TRANSLATED -HP:0004918 Non-gap acidosis NOT_TRANSLATED -HP:0004921 Abnormal magnesium metabolism NOT_TRANSLATED -HP:0004921 Abnormal Mg concentration NOT_TRANSLATED -HP:0004921 Abnormality of magnesium homeostasis NOT_TRANSLATED -HP:0004924 Abnormal glucose oral tolerance test NOT_TRANSLATED -HP:0004930 Abnormality of the lung blood vessels NOT_TRANSLATED -HP:0004931 Hardened artery wall in small cerebral arteries NOT_TRANSLATED -HP:0004933 Type A aortic dissection NOT_TRANSLATED -HP:0004935 Pulmonary atresia NOT_TRANSLATED -HP:0004936 Blood clot in vein NOT_TRANSLATED -HP:0004938 Twisted cerebral arteries NOT_TRANSLATED -HP:0004940 Generalised arterial calcification NOT_TRANSLATED -HP:0004942 Aortic dilatation NOT_TRANSLATED -HP:0004942 Bulge in wall of large artery that carries blood away from heart NOT_TRANSLATED -HP:0004943 Accelerated plaque build-up in arteries NOT_TRANSLATED -HP:0004944 Brain aneurysm NOT_TRANSLATED -HP:0004944 Cerebral aneurysm NOT_TRANSLATED -HP:0004944 Cerebral artery aneurysm NOT_TRANSLATED -HP:0004944 Intracranial aneurysm NOT_TRANSLATED -HP:0004947 Arteriovenous fistulas NOT_TRANSLATED -HP:0004948 Twisted blood vessels NOT_TRANSLATED -HP:0004950 Arterial disease of legs NOT_TRANSLATED -HP:0004950 Occlusive arterial disease NOT_TRANSLATED -HP:0004950 Occlusive vascular disease NOT_TRANSLATED -HP:0004950 Peripheral artery disease NOT_TRANSLATED -HP:0004950 Peripheral artery occlusive disease NOT_TRANSLATED -HP:0004950 Peripheral vascular disease NOT_TRANSLATED -HP:0004955 Arterial tortuosity, general NOT_TRANSLATED -HP:0004955 Arterial tortuosity, generalised NOT_TRANSLATED -HP:0004955 Arterial tortuosity, generalized NOT_TRANSLATED -HP:0004955 Generalised arterial tortuosity NOT_TRANSLATED -HP:0004955 Generalised twisted arteries NOT_TRANSLATED -HP:0004955 Generalized twisted arteries NOT_TRANSLATED -HP:0004959 Dilatation of the descending thoracic aorta NOT_TRANSLATED -HP:0004960 Absent lung artery NOT_TRANSLATED -HP:0004960 Missing pulmonary artery NOT_TRANSLATED -HP:0004964 Hypertrophy of the pulmonary artery wall NOT_TRANSLATED -HP:0004968 Recurrent cerebral haemorrhage NOT_TRANSLATED -HP:0004968 Recurrent hemorrhagic stroke NOT_TRANSLATED -HP:0004969 Narrowing of peripheral lung artery NOT_TRANSLATED -HP:0004969 peripheral pulmonary stenosis NOT_TRANSLATED -HP:0004969 Peripheral pulmonic stenosis NOT_TRANSLATED -HP:0004970 Aneurysm of the ascending tubular aorta NOT_TRANSLATED -HP:0004970 Ascending aorta dilation NOT_TRANSLATED -HP:0004970 Ascending aortic aneurysm NOT_TRANSLATED -HP:0004970 Ascending aortic dilation NOT_TRANSLATED -HP:0004970 Bulging of wall of large artery located above heart NOT_TRANSLATED -HP:0004970 Dilatation of ascending aorta NOT_TRANSLATED -HP:0004971 Underdeveloped lung artery NOT_TRANSLATED -HP:0004971 Underdeveloped pulmonary artery NOT_TRANSLATED -HP:0004975 Erlenmeyer flask deformity of distal femur NOT_TRANSLATED -HP:0004975 Erlenmeyer flask femora NOT_TRANSLATED -HP:0004975 Erlenmeyer flask shaped thighbone NOT_TRANSLATED -HP:0004976 Dislocations of the knees NOT_TRANSLATED -HP:0004976 Knee dislocations NOT_TRANSLATED -HP:0004977 Bilateral absence of radius NOT_TRANSLATED -HP:0004979 Increased bone density in wide portion of long bone NOT_TRANSLATED -HP:0004979 Sclerotic metaphyses NOT_TRANSLATED -HP:0004980 Rarefaction of the metaphyses NOT_TRANSLATED -HP:0004987 Mesomelia of the lower limbs NOT_TRANSLATED -HP:0004987 Mesomelic lower limb shortening NOT_TRANSLATED -HP:0004993 Slender long bones with narrow shaft NOT_TRANSLATED -HP:0005001 Recurrent dislocation of patellas NOT_TRANSLATED -HP:0005003 Absent/small end part of innermost thighbone NOT_TRANSLATED -HP:0005003 Absent/underdeveloped end part of innermost thighbone NOT_TRANSLATED -HP:0005005 Bowing of thighbone at birth, straightening with time NOT_TRANSLATED -HP:0005009 Dumbbell-shaped long bone in upper arm NOT_TRANSLATED -HP:0005011 Mesomelia of the upper limbs NOT_TRANSLATED -HP:0005011 Upper limb brachymesomelia NOT_TRANSLATED -HP:0005019 Thickening of shaft or central part of long bones NOT_TRANSLATED -HP:0005021 Dislocated elbows on both sides NOT_TRANSLATED -HP:0005028 Wide innermost wide portion of shankbone bone NOT_TRANSLATED -HP:0005028 Wide innermost wide portion of shinbone bone NOT_TRANSLATED -HP:0005033 Distal shortening of ulna NOT_TRANSLATED -HP:0005033 Hypoplastic distal ulna NOT_TRANSLATED -HP:0005035 Short toe bones NOT_TRANSLATED -HP:0005039 Multiple exostoses of long tubular bones NOT_TRANSLATED -HP:0005041 Irregular capital femoral epiphyses NOT_TRANSLATED -HP:0005041 Irregular end part of innermost thighbone NOT_TRANSLATED -HP:0005041 Irregular proximal femoral epiphyses NOT_TRANSLATED -HP:0005043 Irregular proximal humeral metaphyses NOT_TRANSLATED -HP:0005048 Fusion of wrist bones NOT_TRANSLATED -HP:0005050 Anterior/lateral radial head dislocation NOT_TRANSLATED -HP:0005059 Joint pain/Joint inflammation NOT_TRANSLATED -HP:0005063 Fragmented, irregular end part of bone NOT_TRANSLATED -HP:0005066 Cone-shaped end part of long bone fused within their wide portion of wide bone NOT_TRANSLATED -HP:0005067 Overgrowth of innermost part of calf bone NOT_TRANSLATED -HP:0005072 Increased laxity of wrists NOT_TRANSLATED -HP:0005072 Increased wrist mobility NOT_TRANSLATED -HP:0005084 Anterior dislocation of radial head NOT_TRANSLATED -HP:0005092 Streak increase in bone density in wide portion of wide bone NOT_TRANSLATED -HP:0005100 Premature birth following premature rupture of foetal membranes NOT_TRANSLATED -HP:0005101 Hearing loss, high-frequency NOT_TRANSLATED -HP:0005101 High frequency hearing loss NOT_TRANSLATED -HP:0005101 High-frequency deafness NOT_TRANSLATED -HP:0005101 Progressive high frequency hearing loss NOT_TRANSLATED -HP:0005101 Progressive high-frequency hearing loss NOT_TRANSLATED -HP:0005102 Progressive cochlear degeneration NOT_TRANSLATED -HP:0005103 Cartilaginous ossification of pinnae NOT_TRANSLATED -HP:0005103 Ear cartilage calcification NOT_TRANSLATED -HP:0005103 Ossification of pinnae NOT_TRANSLATED -HP:0005103 Petrified ear NOT_TRANSLATED -HP:0005104 Decreased size of nasal septum NOT_TRANSLATED -HP:0005104 Decreased size of septum of nose NOT_TRANSLATED -HP:0005104 Hypoplasia of septum of nose NOT_TRANSLATED -HP:0005104 Small nasal septum NOT_TRANSLATED -HP:0005104 Small septum of nose NOT_TRANSLATED -HP:0005105 Abnormal nose morphology NOT_TRANSLATED -HP:0005105 Abnormal of morphology of nose NOT_TRANSLATED -HP:0005105 Abnormal of nasal shape NOT_TRANSLATED -HP:0005105 Abnormal of shape of nose NOT_TRANSLATED -HP:0005107 Abnormality of the sacrum NOT_TRANSLATED -HP:0005108 Abnormality of the intervertebral disc NOT_TRANSLATED -HP:0005108 Abnormality of the intervertebral disk NOT_TRANSLATED -HP:0005109 Abnormality of the calcaneal tendon NOT_TRANSLATED -HP:0005110 Quivering upper heart chambers resulting in irregular heartbeat NOT_TRANSLATED -HP:0005112 Dilatation of the abdominal aorta NOT_TRANSLATED -HP:0005113 Aortic arch dilatation NOT_TRANSLATED -HP:0005113 Dilatation of the aortic arch NOT_TRANSLATED -HP:0005115 Supraventricular arrhythmias NOT_TRANSLATED -HP:0005117 Elevated diastolic BP NOT_TRANSLATED -HP:0005120 Abnormality of cardiac atrium morphology NOT_TRANSLATED -HP:0005120 Abnormality of heart atrium NOT_TRANSLATED -HP:0005121 Posterior vertebral body scalloping NOT_TRANSLATED -HP:0005133 Dilated heart right ventricle NOT_TRANSLATED -HP:0005134 Absent pulmonary valve NOT_TRANSLATED -HP:0005135 EKG: T-wave abnormalities NOT_TRANSLATED -HP:0005135 T-wave abnormalities NOT_TRANSLATED -HP:0005136 Premature calcification of mitral annulus NOT_TRANSLATED -HP:0005144 Thickened interventricular septum NOT_TRANSLATED -HP:0005145 Narrowing of coronary artery NOT_TRANSLATED -HP:0005146 Calcifications of the cardiac valves NOT_TRANSLATED -HP:0005151 Proximal aortic coarctation NOT_TRANSLATED -HP:0005152 Arachnocytosis of the myocardium NOT_TRANSLATED -HP:0005152 Foamy myocardial transformation NOT_TRANSLATED -HP:0005152 Focal lipid cardiomyopathy NOT_TRANSLATED -HP:0005152 Infantile cardiomyopathy with histiocytoid changes NOT_TRANSLATED -HP:0005152 Infantile xanthomatous cardiomyopathy NOT_TRANSLATED -HP:0005152 Isolated cardiac lipidosis NOT_TRANSLATED -HP:0005152 Myocardial or conduction system hamartoma NOT_TRANSLATED -HP:0005152 Oncocytic cardiomyopathy NOT_TRANSLATED -HP:0005155 Idioventricular escape rhythm NOT_TRANSLATED -HP:0005156 Left atrium hypoplasia NOT_TRANSLATED -HP:0005156 Underdeveloped left heart atrium NOT_TRANSLATED -HP:0005157 Symmetric, concentric, hypertrophic cardiomyopathy NOT_TRANSLATED -HP:0005160 Total anomalous pulmonary venous connection NOT_TRANSLATED -HP:0005160 Total anomalous pulmonary venous drainage NOT_TRANSLATED -HP:0005162 Impaired left ventricular function NOT_TRANSLATED -HP:0005162 Left ventricular dysfunction NOT_TRANSLATED -HP:0005162 Left ventricular failure NOT_TRANSLATED -HP:0005162 Left ventricular impairment NOT_TRANSLATED -HP:0005162 Left-sided heart failure NOT_TRANSLATED -HP:0005164 Dysplasia of pulmonary valve NOT_TRANSLATED -HP:0005164 Pulmonary valve dysplasia NOT_TRANSLATED -HP:0005165 Electrocardiographic short PR interval NOT_TRANSLATED -HP:0005165 Short P-R interval NOT_TRANSLATED -HP:0005165 Shortened PR interval on EKG NOT_TRANSLATED -HP:0005172 Left posterior hemiblock NOT_TRANSLATED -HP:0005177 Premature hardening of arteries NOT_TRANSLATED -HP:0005180 Tricuspid insufficiency NOT_TRANSLATED -HP:0005180 Tricuspid valve regurgitation NOT_TRANSLATED -HP:0005181 Premature coronary artery disease NOT_TRANSLATED -HP:0005191 Dislocated knee since birth NOT_TRANSLATED -HP:0005194 Flattened head of long bone of foot NOT_TRANSLATED -HP:0005197 Generalised morning stiffness NOT_TRANSLATED -HP:0005198 Stiff hinge joints NOT_TRANSLATED -HP:0005199 Absent abdominal musculature NOT_TRANSLATED -HP:0005203 Boerhaave syndrome NOT_TRANSLATED -HP:0005203 Spontaneous esophageal rupture NOT_TRANSLATED -HP:0005207 Increased stomach size NOT_TRANSLATED -HP:0005208 Secretory diarrhoea NOT_TRANSLATED -HP:0005210 Hypoplasia of the colon NOT_TRANSLATED -HP:0005210 Underdeveloped colon NOT_TRANSLATED -HP:0005213 Pancreatic calcifications NOT_TRANSLATED -HP:0005214 Bowel obstruction NOT_TRANSLATED -HP:0005214 Intestinal blockage NOT_TRANSLATED -HP:0005216 Chewing difficulties NOT_TRANSLATED -HP:0005216 Chewing difficulty NOT_TRANSLATED -HP:0005216 Difficulty chewing NOT_TRANSLATED -HP:0005218 Perianal fistula NOT_TRANSLATED -HP:0005219 Intrinsic factor absent from gastric juice NOT_TRANSLATED -HP:0005222 Bowel diverticula NOT_TRANSLATED -HP:0005224 Perirectal abscess NOT_TRANSLATED -HP:0005225 Intestinal oedema NOT_TRANSLATED -HP:0005227 Multiple adenomatous colon polyps NOT_TRANSLATED -HP:0005227 Multiple colonic adenomatous polyps NOT_TRANSLATED -HP:0005233 Hypoplastic gallbladder NOT_TRANSLATED -HP:0005242 Biliary atresia, extrahepatic NOT_TRANSLATED -HP:0005244 Death of digestive organ tissue due to poor blood supply NOT_TRANSLATED -HP:0005244 GI infarctions NOT_TRANSLATED -HP:0005245 Hypoplastic intestines NOT_TRANSLATED -HP:0005245 Underdeveloped instestine NOT_TRANSLATED -HP:0005246 Menetrier disease NOT_TRANSLATED -HP:0005247 Abdominal muscular hypoplasia NOT_TRANSLATED -HP:0005248 Bile duct paucity NOT_TRANSLATED -HP:0005248 Intrahepatic atresia of biliary duct NOT_TRANSLATED -HP:0005253 Increased anterioposterior diameter of chest NOT_TRANSLATED -HP:0005254 Small chest on one side NOT_TRANSLATED -HP:0005254 Underdeveloped chest on one side NOT_TRANSLATED -HP:0005255 Pectoralis minor aplasia NOT_TRANSLATED -HP:0005256 Unilateral aplasia of pectoralis major muscle NOT_TRANSLATED -HP:0005257 Small chest NOT_TRANSLATED -HP:0005257 Small thorax NOT_TRANSLATED -HP:0005258 Small/absent pec muscle NOT_TRANSLATED -HP:0005258 Underdeveloped/absent pec muscle NOT_TRANSLATED -HP:0005261 Bleeding within a joint NOT_TRANSLATED -HP:0005261 Hemarthroses NOT_TRANSLATED -HP:0005261 Hemarthrosis NOT_TRANSLATED -HP:0005261 Joint haemorrhage NOT_TRANSLATED -HP:0005261 Spontaneous joint haemorrhage NOT_TRANSLATED -HP:0005261 Spontaneous joint hemorrhage NOT_TRANSLATED -HP:0005263 Stomach inflammation NOT_TRANSLATED -HP:0005264 Anomaly of the gallbladder NOT_TRANSLATED -HP:0005265 Abnormality of the jejunum NOT_TRANSLATED -HP:0005266 Intestinal polyps NOT_TRANSLATED -HP:0005268 Early fetal demise NOT_TRANSLATED -HP:0005268 Spontaneous abortion NOT_TRANSLATED -HP:0005272 Deep laugh lines NOT_TRANSLATED -HP:0005272 Deep nasolabial crease NOT_TRANSLATED -HP:0005272 Deep nasolabial fold NOT_TRANSLATED -HP:0005272 Deep nasolabial groove NOT_TRANSLATED -HP:0005272 Deep smile lines NOT_TRANSLATED -HP:0005272 Nasolabial crease, prominent NOT_TRANSLATED -HP:0005272 Prominent laugh lines NOT_TRANSLATED -HP:0005272 Prominent nasolabial groove NOT_TRANSLATED -HP:0005272 Prominent smile lines NOT_TRANSLATED -HP:0005273 Absent nasal septum NOT_TRANSLATED -HP:0005273 Ageneis of nasal septal cartilage NOT_TRANSLATED -HP:0005273 Failure of development of nasal septal cartilage NOT_TRANSLATED -HP:0005274 Bulbous tip of nose NOT_TRANSLATED -HP:0005274 Hyperplasia of nasal tip NOT_TRANSLATED -HP:0005274 Hyperplasia of tip of nose NOT_TRANSLATED -HP:0005274 Hypertrophy of nasal tip NOT_TRANSLATED -HP:0005274 Hypertrophy of tip of nose NOT_TRANSLATED -HP:0005274 Large nasal tip NOT_TRANSLATED -HP:0005274 Large tip of nose NOT_TRANSLATED -HP:0005274 Prominent tip of nose NOT_TRANSLATED -HP:0005274 Pronounced nasal tip NOT_TRANSLATED -HP:0005274 Pronounced tip of nose NOT_TRANSLATED -HP:0005275 Cartilaginous nasal ossification NOT_TRANSLATED -HP:0005278 Aplasia of nasal tip NOT_TRANSLATED -HP:0005278 Decreased size of nasal tip NOT_TRANSLATED -HP:0005278 Decreased size of tip of nose NOT_TRANSLATED -HP:0005278 Deficient nasal tip NOT_TRANSLATED -HP:0005278 Hypoplasia of tip of nose NOT_TRANSLATED -HP:0005278 Hypotrophic nasal tip NOT_TRANSLATED -HP:0005278 Hypotrophic tip of nose NOT_TRANSLATED -HP:0005278 Small nasal tip NOT_TRANSLATED -HP:0005278 Small tip of nose NOT_TRANSLATED -HP:0005278 Underdevelopment of nasal tip NOT_TRANSLATED -HP:0005278 Underdevelopment of tip of nose NOT_TRANSLATED -HP:0005280 Concave bridge of nose NOT_TRANSLATED -HP:0005280 Concave nasal bridge NOT_TRANSLATED -HP:0005280 Depressed bridge of nose NOT_TRANSLATED -HP:0005280 Depressed nasal root NOT_TRANSLATED -HP:0005280 Depressed nasal root/bridge NOT_TRANSLATED -HP:0005280 Flat bridge of nose NOT_TRANSLATED -HP:0005280 Flat nasal bridge NOT_TRANSLATED -HP:0005280 Flat nasal root NOT_TRANSLATED -HP:0005280 Flat, nasal bridge NOT_TRANSLATED -HP:0005280 Flattened nasal bridge NOT_TRANSLATED -HP:0005280 Low nasal bridge NOT_TRANSLATED -HP:0005280 Low nasal root NOT_TRANSLATED -HP:0005280 Retruded bridge of nose NOT_TRANSLATED -HP:0005280 Retruded nasal bridge NOT_TRANSLATED -HP:0005281 Decreased size of bridge of nose NOT_TRANSLATED -HP:0005281 Decreased size of nasal bridge NOT_TRANSLATED -HP:0005281 Hypoplastic bridge of nose NOT_TRANSLATED -HP:0005281 Hypotrophic bridge of nose NOT_TRANSLATED -HP:0005281 Hypotrophic nasal bridge NOT_TRANSLATED -HP:0005281 Small bridge of nose NOT_TRANSLATED -HP:0005281 Small nasal bridge NOT_TRANSLATED -HP:0005285 Absent bridge of nose NOT_TRANSLATED -HP:0005285 Agenesis of bridge of nose NOT_TRANSLATED -HP:0005285 Agenesis of nasal bridge NOT_TRANSLATED -HP:0005285 Missing bridge of nose NOT_TRANSLATED -HP:0005285 Missing nasal bridge NOT_TRANSLATED -HP:0005288 Abnormal naris morphology NOT_TRANSLATED -HP:0005288 Abnormality of the nares NOT_TRANSLATED -HP:0005288 Abnormality of the nostrils NOT_TRANSLATED -HP:0005288 Anomaly of the nares NOT_TRANSLATED -HP:0005288 Deformity of the nares NOT_TRANSLATED -HP:0005288 Deformity of the nostrils NOT_TRANSLATED -HP:0005288 Malformation of the nares NOT_TRANSLATED -HP:0005288 Malformation of the nostrils NOT_TRANSLATED -HP:0005289 Anomaly of the nasolabial region NOT_TRANSLATED -HP:0005289 Deformity of the nasolabial region NOT_TRANSLATED -HP:0005289 Malformation of the nasolabial region NOT_TRANSLATED -HP:0005290 Aplasia of internal carotid artery NOT_TRANSLATED -HP:0005290 Decreased size of internal carotid artery NOT_TRANSLATED -HP:0005290 Deficiency of internal carotid artery NOT_TRANSLATED -HP:0005290 Hypotrophic internal carotid artery NOT_TRANSLATED -HP:0005290 Small internal carotid artery NOT_TRANSLATED -HP:0005293 Poorly functioning veins NOT_TRANSLATED -HP:0005301 PLSVC NOT_TRANSLATED -HP:0005302 Tortuous carotid arteries NOT_TRANSLATED -HP:0005304 Underdeveloped lung veins NOT_TRANSLATED -HP:0005305 Blood clot in cerebral vein NOT_TRANSLATED -HP:0005305 Cerebral thrombosis NOT_TRANSLATED -HP:0005305 Cerebral vein thrombosis NOT_TRANSLATED -HP:0005306 Capillary hemangiomata NOT_TRANSLATED -HP:0005306 Strawberry birthmark NOT_TRANSLATED -HP:0005311 Absent lung vessels NOT_TRANSLATED -HP:0005320 Lack of facial fat below the skin NOT_TRANSLATED -HP:0005321 Treacher Collins syndrome NOT_TRANSLATED -HP:0005322 Low hanging nasal septum NOT_TRANSLATED -HP:0005322 Low hanging septum of nose NOT_TRANSLATED -HP:0005322 Prominent septum of nose NOT_TRANSLATED -HP:0005322 Visible nasal septum NOT_TRANSLATED -HP:0005322 Visible septum of nose NOT_TRANSLATED -HP:0005323 Enlargement of half of face NOT_TRANSLATED -HP:0005323 Facial hemihyperplasia NOT_TRANSLATED -HP:0005323 Facial hemihypertophy NOT_TRANSLATED -HP:0005323 Friedreich's disease NOT_TRANSLATED -HP:0005323 Hemifacial enlargement NOT_TRANSLATED -HP:0005323 Hypertrophy of half of face NOT_TRANSLATED -HP:0005323 Increase in size of half of face NOT_TRANSLATED -HP:0005323 Overgrowth of half of face NOT_TRANSLATED -HP:0005325 Unusual hairline with hair growth on temples extending to lateral eyebrow NOT_TRANSLATED -HP:0005326 Small philtrum NOT_TRANSLATED -HP:0005328 Aged facial appearance NOT_TRANSLATED -HP:0005328 Premature aged appearance NOT_TRANSLATED -HP:0005328 Prematurely aged face NOT_TRANSLATED -HP:0005328 Prematurely aged facial appearance NOT_TRANSLATED -HP:0005328 Wizened face NOT_TRANSLATED -HP:0005329 Unchanging facial expression NOT_TRANSLATED -HP:0005335 Somnolent facial expression NOT_TRANSLATED -HP:0005336 Darkening of the forehead NOT_TRANSLATED -HP:0005338 Lateral hypoplasia of eyebrows NOT_TRANSLATED -HP:0005338 Lateral thinning of eyebrows NOT_TRANSLATED -HP:0005338 Laterally sparse eyebrow NOT_TRANSLATED -HP:0005338 Laterally sparse eyebrows NOT_TRANSLATED -HP:0005338 Limited hair on end of eyebrow NOT_TRANSLATED -HP:0005338 Sparse lateral eyebrows NOT_TRANSLATED -HP:0005343 Hypoplastic bladder NOT_TRANSLATED -HP:0005343 Underdeveloped bladder NOT_TRANSLATED -HP:0005344 Abnormality of the carotid arteries NOT_TRANSLATED -HP:0005345 Abnormality of the vena cava NOT_TRANSLATED -HP:0005349 Hypoplastic epiglottis NOT_TRANSLATED -HP:0005353 Susceptibility to herpesvirus NOT_TRANSLATED -HP:0005354 Absent cellular immunity NOT_TRANSLATED -HP:0005359 Absent thymic shadow NOT_TRANSLATED -HP:0005359 Absent thymus NOT_TRANSLATED -HP:0005359 Athymia NOT_TRANSLATED -HP:0005359 Lack of thymic shadow NOT_TRANSLATED -HP:0005365 Absence of B cells NOT_TRANSLATED -HP:0005365 Absent B cells NOT_TRANSLATED -HP:0005368 Defective humoral immunity NOT_TRANSLATED -HP:0005372 Reduced B cell function NOT_TRANSLATED -HP:0005376 Recurrent H. influenzae infections NOT_TRANSLATED -HP:0005381 Increased susceptibility to neisseria meningitidis infections NOT_TRANSLATED -HP:0005390 Frequent opportunistic infections NOT_TRANSLATED -HP:0005401 Frequent candida infections NOT_TRANSLATED -HP:0005403 Decrease in T cell count NOT_TRANSLATED -HP:0005403 Decrease in T cell number NOT_TRANSLATED -HP:0005403 Decreased numbers of circulating T cells NOT_TRANSLATED -HP:0005403 Low T cell count NOT_TRANSLATED -HP:0005403 Reduced number of T cells NOT_TRANSLATED -HP:0005404 Increase in B cell count NOT_TRANSLATED -HP:0005404 Increase in B cell number NOT_TRANSLATED -HP:0005404 Increased number of B cells NOT_TRANSLATED -HP:0005406 Recurrent cutaneous pyogenic infections NOT_TRANSLATED -HP:0005406 Recurrent episodes of impetigo NOT_TRANSLATED -HP:0005406 Recurrent episodes of infectious dermatitis NOT_TRANSLATED -HP:0005406 Recurrent pyogenic skin infections NOT_TRANSLATED -HP:0005407 Abnormality of CD4+ T cells NOT_TRANSLATED -HP:0005407 CD4 T cell lymphopenia NOT_TRANSLATED -HP:0005407 CD4+ T-cell lymphopenia NOT_TRANSLATED -HP:0005411 Candida overgrowth syndrome NOT_TRANSLATED -HP:0005415 CD8+ T-cell lymphopenia NOT_TRANSLATED -HP:0005415 Decreased proportion of CD8+ T cells NOT_TRANSLATED -HP:0005415 Decreased proportion of CD8-positive, alpha-beta T cells NOT_TRANSLATED -HP:0005416 Decreased serum factor b NOT_TRANSLATED -HP:0005419 Decreased T lymphocyte activation NOT_TRANSLATED -HP:0005419 Decreased T-cell activation NOT_TRANSLATED -HP:0005419 Decreased T-lymphocyte activation NOT_TRANSLATED -HP:0005419 Defective T cell activation NOT_TRANSLATED -HP:0005419 Profound depletion of T4+ lymphocytes NOT_TRANSLATED -HP:0005421 Decreased serum C3 NOT_TRANSLATED -HP:0005421 Decreased serum complement C3 level NOT_TRANSLATED -HP:0005422 Absence of CD8+ T cells NOT_TRANSLATED -HP:0005425 Chronic sinopulmonary infection NOT_TRANSLATED -HP:0005425 Recurrent sinus and lung infections NOT_TRANSLATED -HP:0005430 Episodes of neisserial infection NOT_TRANSLATED -HP:0005430 Recurrent neisseria infections NOT_TRANSLATED -HP:0005432 Newborn gammaglobulin deficiency NOT_TRANSLATED -HP:0005435 T-cell dysfunction NOT_TRANSLATED -HP:0005439 Decreased projection of zygomaticomaxillary bone complex NOT_TRANSLATED -HP:0005439 Decreased size of zygomaticomaxillary bone complex NOT_TRANSLATED -HP:0005439 Deficiency of zygomaticomaxillary bone complex NOT_TRANSLATED -HP:0005439 Hypoplasia of malar bone complex NOT_TRANSLATED -HP:0005439 Hypoplasia of zygomaticomaxillary complex NOT_TRANSLATED -HP:0005439 Underdevelopment of zygomaticomaxillary bone complex NOT_TRANSLATED -HP:0005445 Widened posterior fossa NOT_TRANSLATED -HP:0005446 High mandibular plane angle NOT_TRANSLATED -HP:0005446 Steep mandibular plane angle NOT_TRANSLATED -HP:0005456 Agenesis of ethmoid sinuses NOT_TRANSLATED -HP:0005456 Failure of development of ethmoid sinuses NOT_TRANSLATED -HP:0005456 Missing ethmoid sinuses NOT_TRANSLATED -HP:0005458 Early closure of the bregma sutures NOT_TRANSLATED -HP:0005458 Early closure of the cranial sutures NOT_TRANSLATED -HP:0005458 Early closure of the fontanelles NOT_TRANSLATED -HP:0005458 Obliterated fontanelles NOT_TRANSLATED -HP:0005458 Premature closure of the bregma sutures NOT_TRANSLATED -HP:0005458 Premature closure of the cranial sutures NOT_TRANSLATED -HP:0005464 Cranial sclerosis NOT_TRANSLATED -HP:0005465 Enlargement of facial bones NOT_TRANSLATED -HP:0005465 Enlargement of facial skeleton NOT_TRANSLATED -HP:0005465 Enlargment of the facial bones NOT_TRANSLATED -HP:0005465 Excessive growth of facial bones NOT_TRANSLATED -HP:0005465 Excessive growth of facial skeleton NOT_TRANSLATED -HP:0005465 Hyperostosis of facial bones NOT_TRANSLATED -HP:0005465 Hyperostosis of facial skeleton NOT_TRANSLATED -HP:0005465 Hypertrophy of facial bones NOT_TRANSLATED -HP:0005465 Hypertrophy of facial skeleton NOT_TRANSLATED -HP:0005465 Hypertrophy of the facial bones NOT_TRANSLATED -HP:0005465 Increase in size of the facial bones NOT_TRANSLATED -HP:0005465 Increased ossification of facial bones NOT_TRANSLATED -HP:0005465 Increased ossification of facial skeleton NOT_TRANSLATED -HP:0005465 Overgrowth of facial bones NOT_TRANSLATED -HP:0005465 Overgrowth of facial skeleton NOT_TRANSLATED -HP:0005465 Overgrowth of the facial bones NOT_TRANSLATED -HP:0005466 Decreased size of bone of forehead NOT_TRANSLATED -HP:0005466 Hypoplastic frontal bones NOT_TRANSLATED -HP:0005466 Hypotrophic frontal bone NOT_TRANSLATED -HP:0005466 Hypotrophic frontal bones NOT_TRANSLATED -HP:0005466 Small bone of forehead NOT_TRANSLATED -HP:0005466 Thin bone of forehead NOT_TRANSLATED -HP:0005466 Underdevelopment of bone of forehead NOT_TRANSLATED -HP:0005469 Flat back of skull NOT_TRANSLATED -HP:0005469 Flat back of the head NOT_TRANSLATED -HP:0005469 Flat back of the skull NOT_TRANSLATED -HP:0005469 Flat posterior cranium NOT_TRANSLATED -HP:0005469 Flat posterior head NOT_TRANSLATED -HP:0005469 Posterior flattening of the skull NOT_TRANSLATED -HP:0005474 Poorly ossified calvaria NOT_TRANSLATED -HP:0005474 Poorly ossified calvarium NOT_TRANSLATED -HP:0005474 Skull soft on palpation NOT_TRANSLATED -HP:0005474 Soft calvaria NOT_TRANSLATED -HP:0005474 Soft skullcap NOT_TRANSLATED -HP:0005474 Undermineralized calvarium NOT_TRANSLATED -HP:0005478 Hyperplasia of frontal sinus NOT_TRANSLATED -HP:0005478 Hypertrophy of frontal sinus NOT_TRANSLATED -HP:0005478 Increased size of frontal sinus NOT_TRANSLATED -HP:0005478 Increased volume of frontal sinus NOT_TRANSLATED -HP:0005478 Large frontal sinus NOT_TRANSLATED -HP:0005479 Decreased IgE NOT_TRANSLATED -HP:0005479 IgE deficiency NOT_TRANSLATED -HP:0005483 Abnormality of the epiglottis NOT_TRANSLATED -HP:0005484 Verworven microcefalie CANDIDATE -HP:0005484 Vertraging van de groei van het hoofd CANDIDATE -HP:0005484 Ontwikkeling van een kleine schedelomtrek bij normale omtrek bij geboorte CANDIDATE -HP:0005484 Microcefalie, verworven CANDIDATE -HP:0005484 Microcefalie, postnataal CANDIDATE -HP:0005484 Postnatale vertraging van de schedelomtrek CANDIDATE -HP:0005486 Little cranial sutures NOT_TRANSLATED -HP:0005486 Little fontanelle NOT_TRANSLATED -HP:0005486 Microfontanelle NOT_TRANSLATED -HP:0005486 Small bregma sutures NOT_TRANSLATED -HP:0005486 Small cranial sutures NOT_TRANSLATED -HP:0005486 Small soft spot NOT_TRANSLATED -HP:0005487 Prominent frontal ridge NOT_TRANSLATED -HP:0005487 Prominent frontal suture NOT_TRANSLATED -HP:0005487 Prominent metopic suture NOT_TRANSLATED -HP:0005487 Ridging of frontal suture NOT_TRANSLATED -HP:0005487 Ridging of metopic suture NOT_TRANSLATED -HP:0005490 Macrocephaly, postnatal NOT_TRANSLATED -HP:0005502 Increased erythrocyte osmotic fragility NOT_TRANSLATED -HP:0005502 Increased red cell fragility NOT_TRANSLATED -HP:0005505 Refractory anaemia NOT_TRANSLATED -HP:0005506 Chronic myelocytic leukaemia NOT_TRANSLATED -HP:0005506 Chronic myelocytic leukemia NOT_TRANSLATED -HP:0005506 Chronic myelogenous leukaemia NOT_TRANSLATED -HP:0005506 Chronic myeloid leukaemia NOT_TRANSLATED -HP:0005506 Chronic myeloid leukemia NOT_TRANSLATED -HP:0005507 Haemoglobin Barts NOT_TRANSLATED -HP:0005507 Hb Barts NOT_TRANSLATED -HP:0005508 Waldenstrom macroglobulinemia NOT_TRANSLATED -HP:0005510 Transient decrease in blood erythrocyte number NOT_TRANSLATED -HP:0005511 Heinz body anaemia NOT_TRANSLATED -HP:0005518 Erythrocyte macrocytosis NOT_TRANSLATED -HP:0005518 Increased MCV NOT_TRANSLATED -HP:0005520 Chronic consumption coagulopathy NOT_TRANSLATED -HP:0005520 Compensated disseminated intravascular coagulation NOT_TRANSLATED -HP:0005522 Pyridoxine-responsive sideroblastic anaemia NOT_TRANSLATED -HP:0005523 Lymphoproliferative disorders NOT_TRANSLATED -HP:0005526 Lymphoid leukaemia NOT_TRANSLATED -HP:0005527 Fitzgerald factor deficiency NOT_TRANSLATED -HP:0005527 Kininogen deficiency NOT_TRANSLATED -HP:0005527 Williams factor deficiency NOT_TRANSLATED -HP:0005527 Williams-Fitzgerald-Flaujeac factor deficiency NOT_TRANSLATED -HP:0005528 Bone marrow failure NOT_TRANSLATED -HP:0005528 Bone marrow hypoplasia NOT_TRANSLATED -HP:0005528 Hypoplastic bone marrow NOT_TRANSLATED -HP:0005531 Acute biphenotypic leukaemia NOT_TRANSLATED -HP:0005531 Biphenotypic acute leukaemia NOT_TRANSLATED -HP:0005531 Myeloid/lymphoid leukaemia NOT_TRANSLATED -HP:0005531 Myeloid/lymphoid leukemia NOT_TRANSLATED -HP:0005532 Macrocytic dyserythropoietic anaemia NOT_TRANSLATED -HP:0005534 TMD NOT_TRANSLATED -HP:0005534 Transient leukaemia of Down syndrome NOT_TRANSLATED -HP:0005534 Transient leukemia of Down syndrome NOT_TRANSLATED -HP:0005534 Transient myeloproliferative disorder NOT_TRANSLATED -HP:0005537 Small platelet size NOT_TRANSLATED -HP:0005537 Small platelets NOT_TRANSLATED -HP:0005537 Small platelets size NOT_TRANSLATED -HP:0005540 Distorted red blood cells resembling keratocytes NOT_TRANSLATED -HP:0005540 RBC keratocytosis NOT_TRANSLATED -HP:0005542 Prolonged clotting time NOT_TRANSLATED -HP:0005543 Protein C deficiency NOT_TRANSLATED -HP:0005550 Chronic lymphatic leukaemia NOT_TRANSLATED -HP:0005550 Chronic lymphocytic leukaemia NOT_TRANSLATED -HP:0005550 Chronic lymphocytic leukemia NOT_TRANSLATED -HP:0005557 Abnormality of the malar arch NOT_TRANSLATED -HP:0005557 Abnormality of the zygomatic arch NOT_TRANSLATED -HP:0005557 Anomaly of the malar arch NOT_TRANSLATED -HP:0005557 Anomaly of the zygomatic arch NOT_TRANSLATED -HP:0005557 Deformity of the malar arch NOT_TRANSLATED -HP:0005557 Deformity of the zygomatic arch NOT_TRANSLATED -HP:0005557 Malformation of the malar arch NOT_TRANSLATED -HP:0005557 Malformation of the zygomatic arch NOT_TRANSLATED -HP:0005558 Chronic blood cancer NOT_TRANSLATED -HP:0005558 Chronic leukaemia NOT_TRANSLATED -HP:0005560 Imbalanced haemoglobin synthesis NOT_TRANSLATED -HP:0005560 Imbalanced Hb synthesis NOT_TRANSLATED -HP:0005561 Anomaly of the bone marrow cells NOT_TRANSLATED -HP:0005561 Bone marrow disease NOT_TRANSLATED -HP:0005562 Multiple kidney cysts NOT_TRANSLATED -HP:0005563 Decreased numbers of glomeruli NOT_TRANSLATED -HP:0005563 Oligonephronia NOT_TRANSLATED -HP:0005564 Absent renal corticomedullary differentiation NOT_TRANSLATED -HP:0005564 Loss of corticomedullary differentiation NOT_TRANSLATED -HP:0005565 Loss of definition of corticomedullary differentiation NOT_TRANSLATED -HP:0005571 Increased percent tubular reabsorption of phosphorus NOT_TRANSLATED -HP:0005575 Hemolytic uremic syndrome NOT_TRANSLATED -HP:0005576 Tubulointerstitial renal fibrosis NOT_TRANSLATED -HP:0005576 Tubulointerstitial scarring NOT_TRANSLATED -HP:0005579 Impaired reabsorption of Cl NOT_TRANSLATED -HP:0005579 Impaired reabsorption of Cl- NOT_TRANSLATED -HP:0005583 Disintegration of the tubular basement membrane NOT_TRANSLATED -HP:0005584 Cancer starting in small tubes in kidneys NOT_TRANSLATED -HP:0005584 Hypernephroma NOT_TRANSLATED -HP:0005584 Renal carcinoma NOT_TRANSLATED -HP:0005585 Patchy hyperpigmentation NOT_TRANSLATED -HP:0005585 Spotty increased pigmentation NOT_TRANSLATED -HP:0005586 Hyperpigmentation of exposed areas NOT_TRANSLATED -HP:0005586 Increased pigmentation in sun-exposed areas NOT_TRANSLATED -HP:0005588 Palmoplantar keratoderma, patchy NOT_TRANSLATED -HP:0005588 Patchy palmoplantar keratoderma NOT_TRANSLATED -HP:0005590 Patchy depigmentation NOT_TRANSLATED -HP:0005590 Patchy hypopigmentation NOT_TRANSLATED -HP:0005590 Spotty decreased pigmentation NOT_TRANSLATED -HP:0005592 Macromelanosomes NOT_TRANSLATED -HP:0005595 Generalised hyperkeratosis NOT_TRANSLATED -HP:0005595 Hyperkeratosis, generalised NOT_TRANSLATED -HP:0005595 Hyperkeratosis, generalized NOT_TRANSLATED -HP:0005598 Butterfly facial telangiectasia NOT_TRANSLATED -HP:0005599 Hair hypopigmentation NOT_TRANSLATED -HP:0005599 Loss of hair color NOT_TRANSLATED -HP:0005599 Loss of hair colour NOT_TRANSLATED -HP:0005600 Giant pigmented hairy nevus NOT_TRANSLATED -HP:0005600 Giant pigmented mole NOT_TRANSLATED -HP:0005600 Giant pigmented nevus NOT_TRANSLATED -HP:0005607 Tracheobronchial anomalies NOT_TRANSLATED -HP:0005608 Bilobed gallbladder NOT_TRANSLATED -HP:0005608 Double gallbladder NOT_TRANSLATED -HP:0005608 Gallbladder duplication NOT_TRANSLATED -HP:0005608 Gallbladder septated NOT_TRANSLATED -HP:0005613 Absent/small thighbone NOT_TRANSLATED -HP:0005613 Absent/underdeveloped thighbone NOT_TRANSLATED -HP:0005613 Hypoplastic to absent femora NOT_TRANSLATED -HP:0005613 Hypoplastic/aplastic femora NOT_TRANSLATED -HP:0005616 Advanced bone age NOT_TRANSLATED -HP:0005616 Early bone maturation NOT_TRANSLATED -HP:0005619 Thoracolumbar gibbus NOT_TRANSLATED -HP:0005619 Thoracolumbar gibbus deformity NOT_TRANSLATED -HP:0005620 Increased mobility of hinge joints NOT_TRANSLATED -HP:0005621 Trapezoidal shaped vertebral bodies NOT_TRANSLATED -HP:0005621 Trapezoidal vertebral bodies NOT_TRANSLATED -HP:0005622 Wide long bones NOT_TRANSLATED -HP:0005622 Widened long bones NOT_TRANSLATED -HP:0005623 Absent bone maturation of skullcap NOT_TRANSLATED -HP:0005623 Absent ossification of skull vault NOT_TRANSLATED -HP:0005627 Brachydactylie type D CANDIDATE -HP:0005632 Absent forearms NOT_TRANSLATED -HP:0005643 Brachydactyly of third toes NOT_TRANSLATED -HP:0005643 Short third toe NOT_TRANSLATED -HP:0005645 Intervertebral disc calcification NOT_TRANSLATED -HP:0005645 Multiple intervertebral disc calcifications NOT_TRANSLATED -HP:0005645 Multiple intervertebral disk calcifications NOT_TRANSLATED -HP:0005650 Cutaneous syndactyly between fingers 2 and 5 NOT_TRANSLATED -HP:0005653 Moderate generalised osteoporosis NOT_TRANSLATED -HP:0005661 Salmonella bone infection NOT_TRANSLATED -HP:0005671 Bilateral intracranial calcifications NOT_TRANSLATED -HP:0005681 Juvenile idiopathic arthritis NOT_TRANSLATED -HP:0005681 Juvenile RA NOT_TRANSLATED -HP:0005681 Rheumatoid arthritis, juvenile NOT_TRANSLATED -HP:0005682 Fusion of foot joint NOT_TRANSLATED -HP:0005682 Fusion of the subtalar joint NOT_TRANSLATED -HP:0005686 Patchy increase of bone mineral density NOT_TRANSLATED -HP:0005686 Uneven increase in bone density NOT_TRANSLATED -HP:0005687 Deformed head of long bone in upper arm NOT_TRANSLATED -HP:0005692 Joints move beyond expected range of motion NOT_TRANSLATED -HP:0005694 Partial fusion of innermost row of wrist bones NOT_TRANSLATED -HP:0005707 Bilateral digitalized thumb NOT_TRANSLATED -HP:0005709 Complete cutaneous syndactyly of second and third toes NOT_TRANSLATED -HP:0005709 Cutaneous 2,3 toe syndactyly NOT_TRANSLATED -HP:0005709 Cutaneous syndactyly of second and third toes NOT_TRANSLATED -HP:0005709 Webbed skin of 2nd-3rd toes NOT_TRANSLATED -HP:0005715 Flattened end part of knee bone NOT_TRANSLATED -HP:0005716 Lethal dwarfism identifiable at birth NOT_TRANSLATED -HP:0005722 Double jointed thumb NOT_TRANSLATED -HP:0005726 Short thumbs with bulbous tips NOT_TRANSLATED -HP:0005733 Spinal stenosis due to short pedicles NOT_TRANSLATED -HP:0005736 Hypoplasia of the tibia NOT_TRANSLATED -HP:0005736 Hypoplastic tibia NOT_TRANSLATED -HP:0005736 Short shinbone NOT_TRANSLATED -HP:0005736 Short skankbone NOT_TRANSLATED -HP:0005736 Short tibiae NOT_TRANSLATED -HP:0005736 Shortening of the shankbone NOT_TRANSLATED -HP:0005736 Shortening of the shinbone NOT_TRANSLATED -HP:0005736 Shortening of the tibia NOT_TRANSLATED -HP:0005743 Coxa plana NOT_TRANSLATED -HP:0005743 Legg-Calve-Perthes syndrome NOT_TRANSLATED -HP:0005743 Legg-Perthes disease NOT_TRANSLATED -HP:0005743 Morbus Legg-Calve-Perthes NOT_TRANSLATED -HP:0005743 Osteochondrosis of the femoral head NOT_TRANSLATED -HP:0005743 Osteonecrosis of the femoral head NOT_TRANSLATED -HP:0005743 Perthes-like femoral head changes NOT_TRANSLATED -HP:0005746 Osteosclerosis of the skull base NOT_TRANSLATED -HP:0005750 Contractures of the joints of the lower limbs NOT_TRANSLATED -HP:0005750 Contractures, lower limbs NOT_TRANSLATED -HP:0005756 Epiphyseal stippling in neonates NOT_TRANSLATED -HP:0005756 Speckled calcifications in bone end parts in neonates NOT_TRANSLATED -HP:0005759 Small and flat posterior fossa of skull NOT_TRANSLATED -HP:0005759 Small and flat posterior skull bones NOT_TRANSLATED -HP:0005766 Disproportionate shortening of the shankbone NOT_TRANSLATED -HP:0005766 Disproportionate shortening of the shinbone NOT_TRANSLATED -HP:0005766 Marked shortening of tibia NOT_TRANSLATED -HP:0005768 Soft tissue syndactyly of toes 2, 3, and 4 NOT_TRANSLATED -HP:0005768 Webbed 2nd, 3rd and 4th toes NOT_TRANSLATED -HP:0005768 Webbed second, third and fourth toes NOT_TRANSLATED -HP:0005769 Curvature of outermost bone of little finger NOT_TRANSLATED -HP:0005769 Curvature of outermost bone of pinkie finger NOT_TRANSLATED -HP:0005769 Curvature of outermost bone of pinky finger NOT_TRANSLATED -HP:0005772 Absent/hypoplastic tibia NOT_TRANSLATED -HP:0005772 Absent/small shankbone NOT_TRANSLATED -HP:0005772 Absent/small shinbone NOT_TRANSLATED -HP:0005772 Absent/underdeveloped shankbone NOT_TRANSLATED -HP:0005772 Absent/underdeveloped shinbone NOT_TRANSLATED -HP:0005772 Aplastic/hypoplastic tibia NOT_TRANSLATED -HP:0005780 No fourth finger distal interphalangeal crease NOT_TRANSLATED -HP:0005789 Diffuse, symmetrical osteosclerosis NOT_TRANSLATED -HP:0005789 Generalised osteosclerosis NOT_TRANSLATED -HP:0005789 Increased bone density in skeletal bones NOT_TRANSLATED -HP:0005789 Osteosclerosis, diffuse symmetrical NOT_TRANSLATED -HP:0005790 Bilateral hypoplasia of condylar process of mandible NOT_TRANSLATED -HP:0005790 Bilateral hypoplasia of mandibular condylar head NOT_TRANSLATED -HP:0005790 Bilateral hypoplasia of mandibular condylar neck NOT_TRANSLATED -HP:0005790 Decreased height of condylar process of mandible NOT_TRANSLATED -HP:0005790 Decreased length of condylar process of mandible NOT_TRANSLATED -HP:0005790 Short condylar head of mandible NOT_TRANSLATED -HP:0005790 Short condylar neck of mandible NOT_TRANSLATED -HP:0005790 Short condylar process of mandible NOT_TRANSLATED -HP:0005792 Humeral hypoplasia NOT_TRANSLATED -HP:0005792 Humeral shortening NOT_TRANSLATED -HP:0005792 Hypoplastic humerus NOT_TRANSLATED -HP:0005792 Short humeri NOT_TRANSLATED -HP:0005792 Short long bone of upper arm NOT_TRANSLATED -HP:0005792 Short upper arms NOT_TRANSLATED -HP:0005793 Shortening of all outermost bone of the toes NOT_TRANSLATED -HP:0005807 Absent outermost digital bones NOT_TRANSLATED -HP:0005815 Extra ribs NOT_TRANSLATED -HP:0005819 Brachymesophalangy NOT_TRANSLATED -HP:0005819 Disproportionately short middle phalanges NOT_TRANSLATED -HP:0005819 Hypoplasia of the middle phalanges of the hand NOT_TRANSLATED -HP:0005819 Hypoplastic middle phalanges NOT_TRANSLATED -HP:0005819 Hypoplastic middle phalanx NOT_TRANSLATED -HP:0005819 Midphalangeal hypoplasia NOT_TRANSLATED -HP:0005819 Short middle bone of finger NOT_TRANSLATED -HP:0005819 Short middle phalanges NOT_TRANSLATED -HP:0005819 Shortened middle finger bones NOT_TRANSLATED -HP:0005824 Clinodactyly of second toes NOT_TRANSLATED -HP:0005824 Curvature of 2nd toe NOT_TRANSLATED -HP:0005830 Contractures involving the toes NOT_TRANSLATED -HP:0005830 Contractures of the toes NOT_TRANSLATED -HP:0005830 Toe contractures NOT_TRANSLATED -HP:0005844 Rounded middle bone of finger NOT_TRANSLATED -HP:0005855 Congenital bone fractures NOT_TRANSLATED -HP:0005855 Multiple fractures present at birth NOT_TRANSLATED -HP:0005855 Multiple fractures, present at birth NOT_TRANSLATED -HP:0005855 Numerous multiple fractures present at birth NOT_TRANSLATED -HP:0005855 Numerous multiple fractures that are present at birth NOT_TRANSLATED -HP:0005856 Ulnar dislocation of radial heads NOT_TRANSLATED -HP:0005864 Pseudoarthroses NOT_TRANSLATED -HP:0005867 Fused 4th-5th long bones of hand NOT_TRANSLATED -HP:0005867 Fused 4th-5th metacarpals NOT_TRANSLATED -HP:0005867 Fused fourth and fifth metacarpals NOT_TRANSLATED -HP:0005867 Ring finger and little finger metacarpal synostosis NOT_TRANSLATED -HP:0005867 Synostosis of the fourth and fifth metacarpal bones NOT_TRANSLATED -HP:0005872 Progressive brachydactyly of middle and distal phalanges NOT_TRANSLATED -HP:0005872 Short middle and distal phalanges of digits ii through v NOT_TRANSLATED -HP:0005873 Polysyndactyly of big toe NOT_TRANSLATED -HP:0005873 Polysyndactyly of great toe NOT_TRANSLATED -HP:0005876 Joint contractures, progressive NOT_TRANSLATED -HP:0005879 Congenital finger contractures NOT_TRANSLATED -HP:0005880 Fused long bone of hand with innermost finger bone NOT_TRANSLATED -HP:0005890 Enlargement of the inner surface of the skull bones NOT_TRANSLATED -HP:0005890 Excessive growth of inner surface of the skull bones NOT_TRANSLATED -HP:0005890 Hyperostosis of the internal surface of the cranial bone NOT_TRANSLATED -HP:0005890 Hyperostosis of the internal surface of the cranial bones NOT_TRANSLATED -HP:0005890 Hypertrophy of the internal surface of the cranial bones NOT_TRANSLATED -HP:0005890 Increased ossification of the internal surface of the cranial bones NOT_TRANSLATED -HP:0005890 Overgrowth of the inner surface of the skull bones NOT_TRANSLATED -HP:0005890 Overgrowth of the inside of the skull NOT_TRANSLATED -HP:0005890 Thick inner surface of the skull bones NOT_TRANSLATED -HP:0005890 Thick internal surface of the cranial bones NOT_TRANSLATED -HP:0005891 Progressive forearm curvature NOT_TRANSLATED -HP:0005892 Fusion of innermost shinbone and calf bone NOT_TRANSLATED -HP:0005894 Double 1st long bones of hand NOT_TRANSLATED -HP:0005897 Severe generalised osteoporosis NOT_TRANSLATED -HP:0005897 Severe, generalised osteoporosis NOT_TRANSLATED -HP:0005897 Severe, generalized osteoporosis NOT_TRANSLATED -HP:0005900 Fifth metacarpal notched on ulnar side NOT_TRANSLATED -HP:0005905 Abnormal neck curve NOT_TRANSLATED -HP:0005906 Mastoid processes poorly pneumatized NOT_TRANSLATED -HP:0005910 Rhomboid or triangular shaped fifth finger middle phalanx NOT_TRANSLATED -HP:0005912 Biliary duct atresia NOT_TRANSLATED -HP:0005913 Abnormality of end part of long bone of hand NOT_TRANSLATED -HP:0005913 Abnormality of metacarpal epiphyses NOT_TRANSLATED -HP:0005914 Absent or hypoplastic metacarpals NOT_TRANSLATED -HP:0005914 Absent/small long bones of hand NOT_TRANSLATED -HP:0005914 Absent/underdeveloped long bones of hand NOT_TRANSLATED -HP:0005914 Aplastic/hypoplastic metacarpals NOT_TRANSLATED -HP:0005914 Hypoplastic metacarpals NOT_TRANSLATED -HP:0005914 Hypoplastic/absent metacarpal bones NOT_TRANSLATED -HP:0005914 Hypoplastic/absent metacarpals NOT_TRANSLATED -HP:0005914 Metacarpal aplasia/hypoplasia NOT_TRANSLATED -HP:0005916 Abnormal shape of long bones of hand NOT_TRANSLATED -HP:0005916 Abnormal shape of metacarpal bones NOT_TRANSLATED -HP:0005917 Extra long bones of hand NOT_TRANSLATED -HP:0005918 Abnormal form of phalanges of the hand NOT_TRANSLATED -HP:0005918 Abnormality of phalanx of finger NOT_TRANSLATED -HP:0005918 Abnormality of the finger bones NOT_TRANSLATED -HP:0005918 Abnormality of the phalanges NOT_TRANSLATED -HP:0005918 Abnormality of the phalanges of the hand NOT_TRANSLATED -HP:0005922 Abnormal shape of hand NOT_TRANSLATED -HP:0005923 Abnormalities of the metaphyses of the hand NOT_TRANSLATED -HP:0005923 Abnormality of the wide portion of the hand bone NOT_TRANSLATED -HP:0005924 Abnormality of the end part of the hand bone NOT_TRANSLATED -HP:0005924 Abnormality of the end part of the hand bones NOT_TRANSLATED -HP:0005924 Abnormality of the epiphyses of the fingers NOT_TRANSLATED -HP:0005924 Abnormality of the epiphyses of the hand NOT_TRANSLATED -HP:0005924 Abnormality of the epiphyses of the phalanges of the hand NOT_TRANSLATED -HP:0005925 Abnormalities of shaft of long bone of the hand NOT_TRANSLATED -HP:0005925 Abnormalities of the diaphyses of the hand NOT_TRANSLATED -HP:0005926 Abnormality of hand cortical bone NOT_TRANSLATED -HP:0005926 Abnormality of the cortex of hand bones NOT_TRANSLATED -HP:0005927 Absent/small hand bones NOT_TRANSLATED -HP:0005927 Absent/underdeveloped hand bones NOT_TRANSLATED -HP:0005927 Hypoplasia/absence of hand bones NOT_TRANSLATED -HP:0005928 Bone fusion involving the calf bones NOT_TRANSLATED -HP:0005929 Bone fusion involving the shinbone NOT_TRANSLATED -HP:0005930 Abnormal shape of end part of bone NOT_TRANSLATED -HP:0005930 Abnormality of epiphysis morphology NOT_TRANSLATED -HP:0005930 Abnormality of the epiphyses NOT_TRANSLATED -HP:0005930 Anomaly of the epiphyses NOT_TRANSLATED -HP:0005930 Epiphyseal abnormality NOT_TRANSLATED -HP:0005942 Filling of the alveoli with alveolar macrophages NOT_TRANSLATED -HP:0005942 Filling of the alveoli with desquamated epithelial cells NOT_TRANSLATED -HP:0005942 Intra-alveolar accumulation of macrophages NOT_TRANSLATED -HP:0005943 Breathing cessation NOT_TRANSLATED -HP:0005944 Absent lungs NOT_TRANSLATED -HP:0005944 Bilateral pulmonary agenesis NOT_TRANSLATED -HP:0005947 Decreased sensitivity to hypoxaemia NOT_TRANSLATED -HP:0005948 Cystic lung disease NOT_TRANSLATED -HP:0005948 Multiple lung cysts NOT_TRANSLATED -HP:0005950 Laryngeal webs NOT_TRANSLATED -HP:0005950 Partial laryngeal atresia NOT_TRANSLATED -HP:0005954 Pulmonary hemangiomas NOT_TRANSLATED -HP:0005959 Gluconeogenesis impaired NOT_TRANSLATED -HP:0005961 Arginine deficiency NOT_TRANSLATED -HP:0005961 Low blood arginine levels NOT_TRANSLATED -HP:0005964 Intermittent abnormally low body temperature NOT_TRANSLATED -HP:0005968 Body temperature instability NOT_TRANSLATED -HP:0005973 Fructose malabsorption NOT_TRANSLATED -HP:0005974 Ketoacidosis, episodic NOT_TRANSLATED -HP:0005978 Diabetes mellitus type 2 NOT_TRANSLATED -HP:0005978 Diabetes mellitus Type II NOT_TRANSLATED -HP:0005978 Diabetes mellitus, noninsulin-dependent NOT_TRANSLATED -HP:0005978 NIDDM NOT_TRANSLATED -HP:0005978 NIDDM diabetes mellitus NOT_TRANSLATED -HP:0005978 Non-insulin dependent diabetes NOT_TRANSLATED -HP:0005978 Noninsulin dependent diabetes mellitus NOT_TRANSLATED -HP:0005978 Noninsulin-dependent diabetes NOT_TRANSLATED -HP:0005978 Noninsulin-dependent diabetes mellitus NOT_TRANSLATED -HP:0005978 Type 2 diabetes NOT_TRANSLATED -HP:0005978 Type II diabetes NOT_TRANSLATED -HP:0005979 Starvation ketoacidosis NOT_TRANSLATED -HP:0005982 Phenylalanine hydroxylase deficiency NOT_TRANSLATED -HP:0005986 Limited neck mobility NOT_TRANSLATED -HP:0005986 Restricted neck movement NOT_TRANSLATED -HP:0005987 Multinodular goitre NOT_TRANSLATED -HP:0005988 Torticollis, congenital NOT_TRANSLATED -HP:0005989 Excess neck skin NOT_TRANSLATED -HP:0005989 Excess skin over the neck NOT_TRANSLATED -HP:0005989 Excessive nuchal skin NOT_TRANSLATED -HP:0005989 Redundant nuchal skin NOT_TRANSLATED -HP:0005989 Redundant skin folds of neck NOT_TRANSLATED -HP:0005989 Redundant skin over the neck NOT_TRANSLATED -HP:0005990 Hypoplastic thyroid NOT_TRANSLATED -HP:0005990 Small thyroid gland NOT_TRANSLATED -HP:0005991 Limited cervical flexion NOT_TRANSLATED -HP:0005991 Limited neck flexibility NOT_TRANSLATED -HP:0005994 Nodular goitre NOT_TRANSLATED -HP:0005995 Loss of adipose tissue around the neck NOT_TRANSLATED -HP:0005995 Loss of fat around neck NOT_TRANSLATED -HP:0005997 Restricted neck mobility due to contractures NOT_TRANSLATED -HP:0005997 Restricted neck movement due to contractures NOT_TRANSLATED -HP:0006006 Degeneration of small hand muscles NOT_TRANSLATED -HP:0006008 Short digits on one side NOT_TRANSLATED -HP:0006009 Broad phalanges NOT_TRANSLATED -HP:0006009 Wide digital bones NOT_TRANSLATED -HP:0006009 Wide phalanges NOT_TRANSLATED -HP:0006009 Widened phalanges NOT_TRANSLATED -HP:0006011 Short, cube shaped long bone of hand NOT_TRANSLATED -HP:0006012 Broad shaft of long bone of hand NOT_TRANSLATED -HP:0006014 Abnormally shaped wrist bones NOT_TRANSLATED -HP:0006016 Delayed bone maturation of end part of digital bone NOT_TRANSLATED -HP:0006016 Delayed phalangeal epiphyseal bone maturation NOT_TRANSLATED -HP:0006019 Decreased space in hinge joint NOT_TRANSLATED -HP:0006026 Rounded end part of bone NOT_TRANSLATED -HP:0006028 Cupping of wide portion of long bone of hand NOT_TRANSLATED -HP:0006028 Metacarpal/metaphyseal cupping NOT_TRANSLATED -HP:0006035 Cone-shaped end part of digital bones 2 to 5 NOT_TRANSLATED -HP:0006040 Long 2nd long bone of hand NOT_TRANSLATED -HP:0006042 Y-shaped long bone of hand NOT_TRANSLATED -HP:0006045 Short pointed digital bones NOT_TRANSLATED -HP:0006048 Wide outermost end of long bone NOT_TRANSLATED -HP:0006059 Cone-shaped end part of long bone NOT_TRANSLATED -HP:0006059 Metacarpal cone-shaped epiphyses NOT_TRANSLATED -HP:0006060 Tombstone-shaped innermost digital bones NOT_TRANSLATED -HP:0006064 Limited movement of hinge joints NOT_TRANSLATED -HP:0006067 Multiple carpal ossification centres NOT_TRANSLATED -HP:0006070 Metacarpal/phalangeal joint contractures NOT_TRANSLATED -HP:0006089 Excessive sweating of hands NOT_TRANSLATED -HP:0006092 Incorrect alignment of wrist bone NOT_TRANSLATED -HP:0006094 Increased mobility in finger joint NOT_TRANSLATED -HP:0006095 Wide tips of outermost digital bone NOT_TRANSLATED -HP:0006097 Partial or complete syndactyly 3rd-4th fingers NOT_TRANSLATED -HP:0006097 Webbed 3rd-4th finger NOT_TRANSLATED -HP:0006097 Webbed 3rd-4th fingers NOT_TRANSLATED -HP:0006101 Partial syndactyly NOT_TRANSLATED -HP:0006107 Finger pad telangiectases NOT_TRANSLATED -HP:0006107 Small dilated blood vessels in fingerpads NOT_TRANSLATED -HP:0006108 Tapered long bones of hand NOT_TRANSLATED -HP:0006109 Absent interphalangeal creases NOT_TRANSLATED -HP:0006109 Aplasia of the interphalangeal creases NOT_TRANSLATED -HP:0006114 Multiple palm lines NOT_TRANSLATED -HP:0006118 Brachytelephalangy NOT_TRANSLATED -HP:0006118 Shortening of all outermost bones of the fingers NOT_TRANSLATED -HP:0006119 Pointed innermost long bone of hand NOT_TRANSLATED -HP:0006119 Pointed proximal metacarpals NOT_TRANSLATED -HP:0006127 Long innermost finger bone NOT_TRANSLATED -HP:0006129 Drumstick shaped digital bones NOT_TRANSLATED -HP:0006134 Enlarged end part of long bone of hand NOT_TRANSLATED -HP:0006135 Decreased finger movement NOT_TRANSLATED -HP:0006140 Premature fusion of end part of digital bone NOT_TRANSLATED -HP:0006144 Shortening of all innermost bones of the fingers NOT_TRANSLATED -HP:0006145 Y-shaped central long bones of hand NOT_TRANSLATED -HP:0006146 Broad end part of long bone of hand NOT_TRANSLATED -HP:0006152 Fused innermost hinge joints NOT_TRANSLATED -HP:0006152 Proximal interphalangeal joint synostoses NOT_TRANSLATED -HP:0006153 Disharmonious wrist bone NOT_TRANSLATED -HP:0006155 Long finger bone NOT_TRANSLATED -HP:0006156 Curved thumb deviated towards palm NOT_TRANSLATED -HP:0006156 Ulnar deviation of the 1st finger NOT_TRANSLATED -HP:0006157 Prominent life line NOT_TRANSLATED -HP:0006159 Central hand polydactyly NOT_TRANSLATED -HP:0006159 Interdigital finger polydactyly NOT_TRANSLATED -HP:0006160 Irregular long bones of hand NOT_TRANSLATED -HP:0006161 Short long bone of hand with rounded innermost ends NOT_TRANSLATED -HP:0006162 Soft tissue swelling of hinge joints NOT_TRANSLATED -HP:0006166 Cylindrical shaped long bones of hand NOT_TRANSLATED -HP:0006167 Prominent innermost hinge joints NOT_TRANSLATED -HP:0006170 Chess-pawn shaped outermost bone NOT_TRANSLATED -HP:0006172 Flattened, squared-off end part of tubular bones NOT_TRANSLATED -HP:0006175 Thickening of connective tissue of innermost finger bone NOT_TRANSLATED -HP:0006176 Two carpal ossification centres present at birth NOT_TRANSLATED -HP:0006179 Extra bone on end of second long bone of hand NOT_TRANSLATED -HP:0006179 Pseudoepiphysis of the 2nd metacarpal NOT_TRANSLATED -HP:0006180 Crowded wrist bones NOT_TRANSLATED -HP:0006184 Hypoplastic palmar creases NOT_TRANSLATED -HP:0006184 Poorly formed palmar creases NOT_TRANSLATED -HP:0006184 Shallow palm line NOT_TRANSLATED -HP:0006184 Shallow palmar creases NOT_TRANSLATED -HP:0006185 Enlarged innermost hinge joint NOT_TRANSLATED -HP:0006191 Deep palm line NOT_TRANSLATED -HP:0006191 Deep palmar creases NOT_TRANSLATED -HP:0006192 Tapered finger bone NOT_TRANSLATED -HP:0006193 Thimble-shaped middle bones of hand NOT_TRANSLATED -HP:0006200 Widened outermost bone of limb NOT_TRANSLATED -HP:0006201 Increased mobility of outermost hinge joint NOT_TRANSLATED -HP:0006203 Decreased range of movement range in hinge joints NOT_TRANSLATED -HP:0006205 Irregular finger bones NOT_TRANSLATED -HP:0006209 Partial-complete absence of 5th digital bone NOT_TRANSLATED -HP:0006213 Thin innermost bone with broad end part of the hand bone NOT_TRANSLATED -HP:0006213 Thin proximal phalanges with broad epiphyses NOT_TRANSLATED -HP:0006216 Fifth finger single interphalangeal crease NOT_TRANSLATED -HP:0006217 Limited mobility of innermost hinge joint NOT_TRANSLATED -HP:0006234 Tarsal bone osteolysis NOT_TRANSLATED -HP:0006234 Tarsal osteolysis NOT_TRANSLATED -HP:0006236 Slender long bones of hand NOT_TRANSLATED -HP:0006237 Prominent hinge joints NOT_TRANSLATED -HP:0006239 Brachymesophalangy of feet NOT_TRANSLATED -HP:0006239 Shortening of all the middle bones of the toes NOT_TRANSLATED -HP:0006247 Enlarged hinge joints NOT_TRANSLATED -HP:0006248 Limited movement of the wrist NOT_TRANSLATED -HP:0006253 Swelling of innermost hinge joints NOT_TRANSLATED -HP:0006254 Alpha fetoprotein abnormal NOT_TRANSLATED -HP:0006254 Increased levels of alpha fetoprotein NOT_TRANSLATED -HP:0006254 Increased serum alpha-fetoprotein NOT_TRANSLATED -HP:0006254 Serum alpha-fetoprotein increased NOT_TRANSLATED -HP:0006257 Abnormal wrist bone maturation NOT_TRANSLATED -HP:0006261 Abnormality of phalangeal joints of the hand NOT_TRANSLATED -HP:0006261 Abnormality of the small joints of the hand NOT_TRANSLATED -HP:0006262 Absent/small little finger NOT_TRANSLATED -HP:0006262 Absent/small pinkie finger NOT_TRANSLATED -HP:0006262 Absent/small pinky finger NOT_TRANSLATED -HP:0006262 Absent/underdeveloped little finger NOT_TRANSLATED -HP:0006262 Absent/underdeveloped pinkie finger NOT_TRANSLATED -HP:0006262 Absent/underdeveloped pinky finger NOT_TRANSLATED -HP:0006263 Abnormality of the end part of the index finger bone NOT_TRANSLATED -HP:0006264 Absent/small index finger NOT_TRANSLATED -HP:0006264 Absent/underdeveloped index finger NOT_TRANSLATED -HP:0006265 Absent/small fingers NOT_TRANSLATED -HP:0006265 Absent/underdeveloped fingers NOT_TRANSLATED -HP:0006267 Placental enlargement NOT_TRANSLATED -HP:0006270 Underdeveloped spleen NOT_TRANSLATED -HP:0006278 Abnormal pancreas location NOT_TRANSLATED -HP:0006280 Chronic pancreas inflammation NOT_TRANSLATED -HP:0006282 Generalised dysplasia of tooth enamel NOT_TRANSLATED -HP:0006282 Generalised hypoplasia of dental enamel NOT_TRANSLATED -HP:0006282 Generalised hypoplasia of tooth enamel NOT_TRANSLATED -HP:0006282 Generalized dysplasia of tooth enamel NOT_TRANSLATED -HP:0006282 Generalized hypoplasia of tooth enamel NOT_TRANSLATED -HP:0006283 Failure of eruption of multiple teeth NOT_TRANSLATED -HP:0006283 Multiple non-erupting teeth NOT_TRANSLATED -HP:0006285 Decreased enamel mineralisation NOT_TRANSLATED -HP:0006285 Fluorosis of tooth enamel NOT_TRANSLATED -HP:0006285 Hypomineralization of enamel NOT_TRANSLATED -HP:0006285 Increased porosity of tooth enamel NOT_TRANSLATED -HP:0006285 Mottled tooth enamel NOT_TRANSLATED -HP:0006285 Poorly mineralized tooth enamel NOT_TRANSLATED -HP:0006285 White spot lesions of tooth enamel NOT_TRANSLATED -HP:0006286 Yellow-brown discolored teeth NOT_TRANSLATED -HP:0006286 Yellow-brown discoloured teeth NOT_TRANSLATED -HP:0006286 Yellow-brown tooth shade NOT_TRANSLATED -HP:0006288 Advanced dental eruption NOT_TRANSLATED -HP:0006288 Advanced tooth eruption NOT_TRANSLATED -HP:0006288 Early dental eruption NOT_TRANSLATED -HP:0006288 Early eruption of teeth NOT_TRANSLATED -HP:0006288 Eruption, advanced NOT_TRANSLATED -HP:0006288 Premature dental eruption NOT_TRANSLATED -HP:0006288 Premature eruption of teeth NOT_TRANSLATED -HP:0006288 Premature tooth eruption NOT_TRANSLATED -HP:0006289 Absent central incisor NOT_TRANSLATED -HP:0006289 Absent central incisors NOT_TRANSLATED -HP:0006289 Failure of development of central incisor NOT_TRANSLATED -HP:0006289 Missing central incisors NOT_TRANSLATED -HP:0006290 Abnormality of color of front teeth NOT_TRANSLATED -HP:0006290 Abnormality of color of lateral incisor NOT_TRANSLATED -HP:0006290 Abnormality of colour of front teeth NOT_TRANSLATED -HP:0006290 Abnormality of colour of lateral incisor NOT_TRANSLATED -HP:0006290 Abnormality of shade of lateral incisor NOT_TRANSLATED -HP:0006290 Discolored front teeth NOT_TRANSLATED -HP:0006290 Discoloured front teeth NOT_TRANSLATED -HP:0006290 Discoloured lateral incisors NOT_TRANSLATED -HP:0006291 Severe delay of eruption of adult teeth NOT_TRANSLATED -HP:0006291 Severe delay of eruption of permanent teeth NOT_TRANSLATED -HP:0006291 Very late eruption of adult teeth NOT_TRANSLATED -HP:0006291 Very late eruption of permanent teeth NOT_TRANSLATED -HP:0006292 Abnormal dental eruption NOT_TRANSLATED -HP:0006292 Abnormality of tooth eruption NOT_TRANSLATED -HP:0006292 Anomaly of dental eruption NOT_TRANSLATED -HP:0006292 Anomaly of tooth eruption NOT_TRANSLATED -HP:0006292 Disorder of dental eruption NOT_TRANSLATED -HP:0006292 Disorder of tooth eruption NOT_TRANSLATED -HP:0006292 Disturbance of dental eruption NOT_TRANSLATED -HP:0006292 Disturbance of tooth eruption NOT_TRANSLATED -HP:0006293 Absence of maxillary central incisor NOT_TRANSLATED -HP:0006293 Failure of development of maxillary central incisor NOT_TRANSLATED -HP:0006293 Missing maxillary central incisor NOT_TRANSLATED -HP:0006293 Missing upper central incisor NOT_TRANSLATED -HP:0006297 Defective enamel matrix NOT_TRANSLATED -HP:0006297 Dental enamel hypoplasia NOT_TRANSLATED -HP:0006297 Dysplasia of tooth enamel NOT_TRANSLATED -HP:0006297 Enamel dysplasia NOT_TRANSLATED -HP:0006297 Enamel hypotrophy NOT_TRANSLATED -HP:0006297 Enamel, underdeveloped NOT_TRANSLATED -HP:0006297 Hypoplasia of dental enamel NOT_TRANSLATED -HP:0006297 Hypoplasia of tooth enamel NOT_TRANSLATED -HP:0006297 Thin dental enamel NOT_TRANSLATED -HP:0006297 Thin tooth enamel NOT_TRANSLATED -HP:0006297 Underdeveloped teeth enamel NOT_TRANSLATED -HP:0006302 Dagger shaped pulp denticles NOT_TRANSLATED -HP:0006302 Dagger shaped pulp stones NOT_TRANSLATED -HP:0006304 Anterior diastema of teeth NOT_TRANSLATED -HP:0006304 Diastema between front teeth NOT_TRANSLATED -HP:0006304 Diastema between incisors NOT_TRANSLATED -HP:0006304 Gap between front teeth NOT_TRANSLATED -HP:0006304 Widely spaced front teeth NOT_TRANSLATED -HP:0006308 Alveolar bone loss NOT_TRANSLATED -HP:0006308 Atrophy of alveolar margins NOT_TRANSLATED -HP:0006308 Atrophy of alveolar processes of jaw NOT_TRANSLATED -HP:0006308 Flattening of alveolar margin NOT_TRANSLATED -HP:0006308 Flattening of alveolar processes of jaw NOT_TRANSLATED -HP:0006308 Flattening of alveolar ridges NOT_TRANSLATED -HP:0006308 Flattening of gum ridges NOT_TRANSLATED -HP:0006308 Resorption of alveolar margins NOT_TRANSLATED -HP:0006308 Resorption of alveolar processes of jaw NOT_TRANSLATED -HP:0006308 Resorption of alveolar ridges NOT_TRANSLATED -HP:0006308 Shrinking of alveolar ridges NOT_TRANSLATED -HP:0006308 Shrinking of gum ridges NOT_TRANSLATED -HP:0006311 Decreased size of all teeth NOT_TRANSLATED -HP:0006311 Decreased tooth mass NOT_TRANSLATED -HP:0006311 Decreased width of all teeth NOT_TRANSLATED -HP:0006311 Generalised microdontia NOT_TRANSLATED -HP:0006311 Hypotrophy of all teeth NOT_TRANSLATED -HP:0006311 Tooth mass insufficiency NOT_TRANSLATED -HP:0006313 Generalised spacing of primary teeth NOT_TRANSLATED -HP:0006313 Generalized spacing of primary teeth NOT_TRANSLATED -HP:0006313 Wide gaps between baby teeth NOT_TRANSLATED -HP:0006313 Wide gaps between primary teeth NOT_TRANSLATED -HP:0006313 Widely spaced baby teeth NOT_TRANSLATED -HP:0006313 Widely spaced deciduous teeth NOT_TRANSLATED -HP:0006313 Widely spaced milk teeth NOT_TRANSLATED -HP:0006315 Only one upper front tooth NOT_TRANSLATED -HP:0006315 Single central incisor NOT_TRANSLATED -HP:0006315 Single central upper incisor NOT_TRANSLATED -HP:0006315 Single maxillary central incisor NOT_TRANSLATED -HP:0006315 Single median incisor NOT_TRANSLATED -HP:0006315 Single median maxillary incisor NOT_TRANSLATED -HP:0006315 Single midline maxillary incisor NOT_TRANSLATED -HP:0006315 Single midline upper front tooth NOT_TRANSLATED -HP:0006315 Solitary median maxillary central incisor syndrome NOT_TRANSLATED -HP:0006315 Solitary midline maxillary central incisor NOT_TRANSLATED -HP:0006316 Irregular dental spacing NOT_TRANSLATED -HP:0006316 Variability of dental spacing NOT_TRANSLATED -HP:0006316 Variability of spacing between teeth NOT_TRANSLATED -HP:0006321 Failure of eruption of multiple adult teeth NOT_TRANSLATED -HP:0006321 Failure of eruption of multiple permanent teeth NOT_TRANSLATED -HP:0006321 Multiple non-erupting adult teeth NOT_TRANSLATED -HP:0006321 Multiple non-erupting permanent teeth NOT_TRANSLATED -HP:0006321 Multiple unerupted adult teeth NOT_TRANSLATED -HP:0006321 Multiple unerupted permanent teeth NOT_TRANSLATED -HP:0006323 Early loss of baby teeth NOT_TRANSLATED -HP:0006323 Early loss of deciduous teeth NOT_TRANSLATED -HP:0006323 Early loss of primary teeth NOT_TRANSLATED -HP:0006323 Premature deciduous tooth loss NOT_TRANSLATED -HP:0006323 Premature exfoliation of deciduous teeth NOT_TRANSLATED -HP:0006323 Premature exfoliation of primary teeth NOT_TRANSLATED -HP:0006323 Premature loss of baby teeth NOT_TRANSLATED -HP:0006323 Premature loss of deciduous teeth NOT_TRANSLATED -HP:0006326 Failure of dental eruption due to mucopolysaccharidoses NOT_TRANSLATED -HP:0006326 Failure of tooth eruption due to mucopolysaccharidoses NOT_TRANSLATED -HP:0006326 Impacted teeth due to mucopolysaccharidoses NOT_TRANSLATED -HP:0006326 Unerupted dentition due to mucopolysaccharidoses NOT_TRANSLATED -HP:0006326 Unerupted teeth due to mucopolysaccharidoses NOT_TRANSLATED -HP:0006329 Decreased size of alveolar process of jaw NOT_TRANSLATED -HP:0006329 Decreased size of alveolar ridge NOT_TRANSLATED -HP:0006329 Deficiency of alveolar process of jaw NOT_TRANSLATED -HP:0006329 Deficiency of alveolar ridge NOT_TRANSLATED -HP:0006329 Hypoplasia of alveolar ridge NOT_TRANSLATED -HP:0006329 Hypoplastic alveolar bone NOT_TRANSLATED -HP:0006329 Hypotrophic alveolar process of jaw NOT_TRANSLATED -HP:0006329 Hypotrophic alveolar ridge NOT_TRANSLATED -HP:0006329 Small alveolar process of jaw NOT_TRANSLATED -HP:0006329 Small alveolar ridge NOT_TRANSLATED -HP:0006329 Underdevelopment of alveolar process of jaw NOT_TRANSLATED -HP:0006329 Underdevelopment of alveolar ridge NOT_TRANSLATED -HP:0006330 Rotated upper central incisors NOT_TRANSLATED -HP:0006330 Rotated upper front teeth NOT_TRANSLATED -HP:0006330 Turned upper front teeth NOT_TRANSLATED -HP:0006330 Twisted upper front teeth NOT_TRANSLATED -HP:0006332 Extra upper front tooth NOT_TRANSLATED -HP:0006333 Crowded upper front teeth NOT_TRANSLATED -HP:0006333 Crowded upper incisors NOT_TRANSLATED -HP:0006333 Overlapped maxillary incisors NOT_TRANSLATED -HP:0006333 Overlapped upper front teeth NOT_TRANSLATED -HP:0006334 Decreased size of baby teeth NOT_TRANSLATED -HP:0006334 Decreased size of deciduous teeth NOT_TRANSLATED -HP:0006334 Decreased size of milk teeth NOT_TRANSLATED -HP:0006334 Decreased size of primary teeth NOT_TRANSLATED -HP:0006334 Hypoplastic deciduous teeth NOT_TRANSLATED -HP:0006334 Small baby teeth NOT_TRANSLATED -HP:0006334 Small milk teeth NOT_TRANSLATED -HP:0006334 Small primary teeth NOT_TRANSLATED -HP:0006334 Underdevelopment of baby teeth NOT_TRANSLATED -HP:0006334 Underdevelopment of milk teeth NOT_TRANSLATED -HP:0006334 Underdevelopment of primary teeth NOT_TRANSLATED -HP:0006335 Deciduous teeth retention NOT_TRANSLATED -HP:0006335 Delayed loss of baby teeth NOT_TRANSLATED -HP:0006335 Delayed loss of deciduous teeth NOT_TRANSLATED -HP:0006335 Delayed loss of primary teeth NOT_TRANSLATED -HP:0006335 Failure to exfoliate deciduous teeth NOT_TRANSLATED -HP:0006335 Failure to exfoliate primary teeth NOT_TRANSLATED -HP:0006335 Failure to lose baby teeth NOT_TRANSLATED -HP:0006335 Persistence of deciduous teeth NOT_TRANSLATED -HP:0006335 Persistent deciduous dentition NOT_TRANSLATED -HP:0006335 Persistent primary dentition NOT_TRANSLATED -HP:0006335 Persistent primary teeth NOT_TRANSLATED -HP:0006335 Retained baby teeth NOT_TRANSLATED -HP:0006335 Retained deciduous teeth NOT_TRANSLATED -HP:0006335 Retained primary teeth NOT_TRANSLATED -HP:0006336 Decreased length of dental roots NOT_TRANSLATED -HP:0006336 Decreased length of tooth roots NOT_TRANSLATED -HP:0006336 Dental root hypoplasia NOT_TRANSLATED -HP:0006336 Dental root hypotrophy NOT_TRANSLATED -HP:0006336 Rhizomicry NOT_TRANSLATED -HP:0006336 Root dwarfism NOT_TRANSLATED -HP:0006336 Short dental roots NOT_TRANSLATED -HP:0006336 Short tooth roots NOT_TRANSLATED -HP:0006336 Underdeveloped dental roots NOT_TRANSLATED -HP:0006336 Underdeveloped tooth roots NOT_TRANSLATED -HP:0006337 Early eruption of adult teeth NOT_TRANSLATED -HP:0006337 Early eruption of permanent teeth NOT_TRANSLATED -HP:0006337 Precocious eruption of secondary dentition NOT_TRANSLATED -HP:0006337 Precocious eruption of secondary teeth NOT_TRANSLATED -HP:0006337 Premature eruption of adult teeth NOT_TRANSLATED -HP:0006338 Malformation of lower premolar NOT_TRANSLATED -HP:0006338 Malformation of mandibular bicuspid NOT_TRANSLATED -HP:0006339 Cone shaped lower front tooth NOT_TRANSLATED -HP:0006339 Conoid mandibular incisor NOT_TRANSLATED -HP:0006339 Lower front shark tooth NOT_TRANSLATED -HP:0006339 Peg shaped lower front tooth NOT_TRANSLATED -HP:0006339 Peg shaped mandibular incisor NOT_TRANSLATED -HP:0006339 Pointed mandibular incisor NOT_TRANSLATED -HP:0006339 Pointed mandibular incisors NOT_TRANSLATED -HP:0006342 Cone shaped upper lateral incisors NOT_TRANSLATED -HP:0006342 Conical maxillary lateral incisors NOT_TRANSLATED -HP:0006342 Conoid upper lateral incisors NOT_TRANSLATED -HP:0006342 Peg laterals NOT_TRANSLATED -HP:0006342 Peg shaped upper lateral incisors NOT_TRANSLATED -HP:0006342 Peg-shaped tooth NOT_TRANSLATED -HP:0006342 Pointed upper lateral incisors NOT_TRANSLATED -HP:0006344 Abnormality of deciduous molar morphology NOT_TRANSLATED -HP:0006344 Abnormality of shape of baby molar NOT_TRANSLATED -HP:0006344 Abnormality of shape of primary molar NOT_TRANSLATED -HP:0006346 Screwdriver shaped front teeth NOT_TRANSLATED -HP:0006347 Decreased size of primary tooth NOT_TRANSLATED -HP:0006347 Decreased width of baby teeth NOT_TRANSLATED -HP:0006347 Decreased width of deciduous teeth NOT_TRANSLATED -HP:0006347 Decreased width of milk teeth NOT_TRANSLATED -HP:0006347 Decreased width of primary tooth NOT_TRANSLATED -HP:0006347 Microdontia of deciduous teeth NOT_TRANSLATED -HP:0006347 Small deciduous teeth NOT_TRANSLATED -HP:0006349 Absence of permanent teeth NOT_TRANSLATED -HP:0006349 Absent permanent teeth NOT_TRANSLATED -HP:0006349 Agenesis of permanent dentition NOT_TRANSLATED -HP:0006349 Agenesis of secondary dentition NOT_TRANSLATED -HP:0006349 Failure of development of permanent teeth NOT_TRANSLATED -HP:0006349 Failure of development of secondary teeth NOT_TRANSLATED -HP:0006349 Missing teeth NOT_TRANSLATED -HP:0006350 Crescent/chevron-shaped pulp chambers NOT_TRANSLATED -HP:0006350 Narrowing of pulp chamber of tooth NOT_TRANSLATED -HP:0006350 Obliteration of the pulp chamber NOT_TRANSLATED -HP:0006350 Pulp canal obliteration NOT_TRANSLATED -HP:0006350 Reduced size of pulp chamber of tooth NOT_TRANSLATED -HP:0006350 Small pulp chamber of tooth NOT_TRANSLATED -HP:0006352 Failure of eruption of adult teeth NOT_TRANSLATED -HP:0006352 Unerupted adult dentition NOT_TRANSLATED -HP:0006352 Unerupted adult teeth NOT_TRANSLATED -HP:0006352 Unerupted permanent dentition NOT_TRANSLATED -HP:0006352 Unerupted permanent teeth NOT_TRANSLATED -HP:0006353 Decreased size of tooth bud NOT_TRANSLATED -HP:0006353 Decreased size of tooth germ NOT_TRANSLATED -HP:0006353 Hypoplastic tooth buds NOT_TRANSLATED -HP:0006353 Hypotrophic tooth germ NOT_TRANSLATED -HP:0006353 Small tooth bud NOT_TRANSLATED -HP:0006353 Small tooth germ NOT_TRANSLATED -HP:0006353 Underdevelopment of tooth bud NOT_TRANSLATED -HP:0006353 Underdevelopment of tooth germ NOT_TRANSLATED -HP:0006355 Absence of lower central incisor NOT_TRANSLATED -HP:0006355 Absence of mandibular central incisor NOT_TRANSLATED -HP:0006355 Failure of development of mandibular central incisor NOT_TRANSLATED -HP:0006355 Missing lower central incisor NOT_TRANSLATED -HP:0006355 Missing mandibular central incisor NOT_TRANSLATED -HP:0006357 Early loss of adult teeth NOT_TRANSLATED -HP:0006357 Early loss of permanent teeth NOT_TRANSLATED -HP:0006357 Early loss of secondary dentition NOT_TRANSLATED -HP:0006357 Premature loss of adult teeth NOT_TRANSLATED -HP:0006357 Premature loss of secondary teeth NOT_TRANSLATED -HP:0006358 Shovel tooth NOT_TRANSLATED -HP:0006358 Shovel-shaped upper front teeth NOT_TRANSLATED -HP:0006361 Irregular thighbone end part NOT_TRANSLATED -HP:0006369 Irregular patellar contour NOT_TRANSLATED -HP:0006369 Irregular patellar margins NOT_TRANSLATED -HP:0006370 Distal ulnar epiphyseal calcifications NOT_TRANSLATED -HP:0006371 Broad shaft of long bone NOT_TRANSLATED -HP:0006371 Wide shaft of long bone NOT_TRANSLATED -HP:0006375 Dumbbell-shaped thighbone NOT_TRANSLATED -HP:0006379 Proximal tibial hypopolasia NOT_TRANSLATED -HP:0006380 Contractures of knees NOT_TRANSLATED -HP:0006380 Contractures of the knees NOT_TRANSLATED -HP:0006380 Flexion contracture of knees NOT_TRANSLATED -HP:0006380 Flexion contractures at both knees NOT_TRANSLATED -HP:0006380 Flexion contractures of knees NOT_TRANSLATED -HP:0006380 Flexion deformity of the knee NOT_TRANSLATED -HP:0006380 Inability to straighten knee NOT_TRANSLATED -HP:0006380 Knee contracture NOT_TRANSLATED -HP:0006380 Knee contractures NOT_TRANSLATED -HP:0006380 Knee flexion contractures NOT_TRANSLATED -HP:0006380 Knee flexion deformity NOT_TRANSLATED -HP:0006381 Rudimentary to absent fibulae NOT_TRANSLATED -HP:0006381 Small to absent calf bone NOT_TRANSLATED -HP:0006381 Small to absent fibula NOT_TRANSLATED -HP:0006384 Club-shaped distal femora NOT_TRANSLATED -HP:0006384 Club-shaped outermost end of thighbone NOT_TRANSLATED -HP:0006385 Short legs NOT_TRANSLATED -HP:0006387 Broad outermost wide portion of thighbone NOT_TRANSLATED -HP:0006387 Wide distal metaphysis of femur NOT_TRANSLATED -HP:0006390 Anterior bowing of tibia NOT_TRANSLATED -HP:0006398 Flat end part of outermost thighbone NOT_TRANSLATED -HP:0006398 Flattened distal femoral epiphyses NOT_TRANSLATED -HP:0006400 Absent knee end part NOT_TRANSLATED -HP:0006402 Short outer part of limbs NOT_TRANSLATED -HP:0006406 Club-shaped innermost end of thighbone NOT_TRANSLATED -HP:0006407 Irregular outermost thighbone end part NOT_TRANSLATED -HP:0006408 Tapering of outermost end of thighbone NOT_TRANSLATED -HP:0006413 Broad wide portion of shankbone NOT_TRANSLATED -HP:0006413 Broad wide portion of shinbone NOT_TRANSLATED -HP:0006414 Bowing of the distal tibia NOT_TRANSLATED -HP:0006414 Tibial bowing at ankle NOT_TRANSLATED -HP:0006417 Broad wide portion of thigh bone NOT_TRANSLATED -HP:0006429 Broadening of femoral neck NOT_TRANSLATED -HP:0006429 Wide femoral neck NOT_TRANSLATED -HP:0006429 Wide neck of thigh bone NOT_TRANSLATED -HP:0006429 Widened femoral necks NOT_TRANSLATED -HP:0006431 Abnormal wide portion of innermost thighbone NOT_TRANSLATED -HP:0006433 Dysplastic radii NOT_TRANSLATED -HP:0006433 Radial longitudinal deficiency NOT_TRANSLATED -HP:0006434 Proximal radial shortening NOT_TRANSLATED -HP:0006438 Enlargement of the outermost thighbone end part NOT_TRANSLATED -HP:0006438 Large distal femoral epiphyses NOT_TRANSLATED -HP:0006439 Dislocated radioulnar joints NOT_TRANSLATED -HP:0006440 Increased density of shaft of long bone NOT_TRANSLATED -HP:0006442 Small innermost upper end of calf bone NOT_TRANSLATED -HP:0006442 Underdeveloped innermost upper end of calf bone NOT_TRANSLATED -HP:0006443 Absent kneecap NOT_TRANSLATED -HP:0006443 Absent patella NOT_TRANSLATED -HP:0006443 Absent patellae NOT_TRANSLATED -HP:0006443 Absent patellas NOT_TRANSLATED -HP:0006443 Aplastic patellae NOT_TRANSLATED -HP:0006453 Laterally displaced femoral heads NOT_TRANSLATED -HP:0006454 Delayed bone maturation of the knee cap NOT_TRANSLATED -HP:0006454 Delayed patellae ossification NOT_TRANSLATED -HP:0006456 Irregular innermost shankbone end part NOT_TRANSLATED -HP:0006456 Irregular innermost shinbone end part NOT_TRANSLATED -HP:0006461 Slipped capital femoral epiphyses NOT_TRANSLATED -HP:0006461 Slipped capital femoral epiphysis NOT_TRANSLATED -HP:0006461 Slipped end part of innermost thighbone NOT_TRANSLATED -HP:0006462 Generalised bone demineralization NOT_TRANSLATED -HP:0006466 Ankle contracture NOT_TRANSLATED -HP:0006466 Ankle contractures NOT_TRANSLATED -HP:0006466 Contractures of the ankles NOT_TRANSLATED -HP:0006470 Thin diaphyses of long bones NOT_TRANSLATED -HP:0006470 Thin shaft of long bone NOT_TRANSLATED -HP:0006477 Abnormality of alveolar margin NOT_TRANSLATED -HP:0006477 Abnormality of alveolar processes of jaw NOT_TRANSLATED -HP:0006477 Abnormality of dentoalveolar ridges NOT_TRANSLATED -HP:0006477 Abnormality of gum ridge NOT_TRANSLATED -HP:0006477 Defect in alveolar ridge NOT_TRANSLATED -HP:0006479 Abnormality of the dental pulp NOT_TRANSLATED -HP:0006479 Abnormality of tooth pulp NOT_TRANSLATED -HP:0006479 Endodontic abnormality NOT_TRANSLATED -HP:0006480 Early tooth loss NOT_TRANSLATED -HP:0006480 Loss of teeth NOT_TRANSLATED -HP:0006480 Premature exfoliation of teeth NOT_TRANSLATED -HP:0006480 Premature teeth loss NOT_TRANSLATED -HP:0006480 Premature tooth loss NOT_TRANSLATED -HP:0006481 Abnormality of baby teeth NOT_TRANSLATED -HP:0006481 Abnormality of deciduous teeth NOT_TRANSLATED -HP:0006481 Abnormality of milk teeth NOT_TRANSLATED -HP:0006482 Abnormality of dental shape NOT_TRANSLATED -HP:0006482 Abnormality of shape of tooth NOT_TRANSLATED -HP:0006482 Abnormally shaped teeth NOT_TRANSLATED -HP:0006482 Deformity of teeth NOT_TRANSLATED -HP:0006482 Dental deformity NOT_TRANSLATED -HP:0006482 Dental malformations NOT_TRANSLATED -HP:0006482 Malformation of teeth NOT_TRANSLATED -HP:0006482 Malformed teeth NOT_TRANSLATED -HP:0006482 Misshapen teeth NOT_TRANSLATED -HP:0006482 Misshapened teeth NOT_TRANSLATED -HP:0006483 Abnormal complement of teeth NOT_TRANSLATED -HP:0006483 Abnormal tooth count NOT_TRANSLATED -HP:0006485 Absence of front tooth NOT_TRANSLATED -HP:0006485 Absence of incisors NOT_TRANSLATED -HP:0006485 Failure of development of incisor NOT_TRANSLATED -HP:0006485 Missing front tooth NOT_TRANSLATED -HP:0006485 Missing incisors NOT_TRANSLATED -HP:0006486 Abnormality of the dental root NOT_TRANSLATED -HP:0006486 Abnormality of tooth root NOT_TRANSLATED -HP:0006486 Dental root anomaly NOT_TRANSLATED -HP:0006487 Bowed long bones NOT_TRANSLATED -HP:0006487 Bowing of long bones NOT_TRANSLATED -HP:0006487 Camptomelia NOT_TRANSLATED -HP:0006487 Diaphyseal bowing NOT_TRANSLATED -HP:0006487 Diaphyseal bowing of long bones NOT_TRANSLATED -HP:0006488 Bending of the arm NOT_TRANSLATED -HP:0006489 Abnormality of the femoral metaphysis NOT_TRANSLATED -HP:0006489 Abnormality of the wide portion of the femoral bone NOT_TRANSLATED -HP:0006490 Abnormality of lower-limb metaphyses NOT_TRANSLATED -HP:0006490 Abnormality of the wide portion of the lower-limb bone NOT_TRANSLATED -HP:0006491 Abnormality of the tibial metaphysis NOT_TRANSLATED -HP:0006491 Abnormality of the wide portion of shankbone NOT_TRANSLATED -HP:0006491 Abnormality of the wide portion of shinbone NOT_TRANSLATED -HP:0006492 Absent/small calf bone NOT_TRANSLATED -HP:0006492 Absent/underdeveloped calf bone NOT_TRANSLATED -HP:0006492 Fibular aplasia/hypoplasia NOT_TRANSLATED -HP:0006492 Hypoplastic/aplastic fibulae NOT_TRANSLATED -HP:0006493 Absent/small lower limb bones NOT_TRANSLATED -HP:0006493 Absent/underdeveloped lower limb bones NOT_TRANSLATED -HP:0006494 Absent/small foot bones NOT_TRANSLATED -HP:0006494 Absent/underdeveloped foot bones NOT_TRANSLATED -HP:0006495 Absence/underdevelopment of inner forearm bone NOT_TRANSLATED -HP:0006495 Absent-hypoplastic ulnae NOT_TRANSLATED -HP:0006495 Absent/small ulna NOT_TRANSLATED -HP:0006495 Hypoplasia or unilateral/bilateral absence of ulna NOT_TRANSLATED -HP:0006495 Ulnar hypoplasia/aplasia NOT_TRANSLATED -HP:0006496 Absent/small bones of the upper limbs NOT_TRANSLATED -HP:0006496 Absent/underdeveloped bones of the upper limbs NOT_TRANSLATED -HP:0006498 Absent or hypoplastic patellae NOT_TRANSLATED -HP:0006498 Absent/hypoplastic patella NOT_TRANSLATED -HP:0006498 Absent/small kneecap NOT_TRANSLATED -HP:0006498 Absent/underdeveloped kneecap NOT_TRANSLATED -HP:0006498 Aplastic or hypoplastic patellae NOT_TRANSLATED -HP:0006498 Hypoplastic or absent patella NOT_TRANSLATED -HP:0006498 Patellar aplasia/hypoplasia NOT_TRANSLATED -HP:0006498 Small to absent patellae NOT_TRANSLATED -HP:0006499 Abnormality of thighbone end part NOT_TRANSLATED -HP:0006500 Abnormal shape of end part of lower limb end bone NOT_TRANSLATED -HP:0006500 Abnormality involving the epiphyses of the lower limbs NOT_TRANSLATED -HP:0006501 Absence or underdevelopment of the radius bone of the arm NOT_TRANSLATED -HP:0006501 Absent/small radius NOT_TRANSLATED -HP:0006501 Absent/underdeveloped radius NOT_TRANSLATED -HP:0006501 Radial aplasia/hypoplasia NOT_TRANSLATED -HP:0006502 Absent/small wrist bones NOT_TRANSLATED -HP:0006502 Absent/underdeveloped wrist bones NOT_TRANSLATED -HP:0006503 Absent/small forearm bones NOT_TRANSLATED -HP:0006503 Absent/underdeveloped forearm bones NOT_TRANSLATED -HP:0006505 Abnormal shape of end part of limb bones NOT_TRANSLATED -HP:0006505 Abnormality involving the epiphyses of the limbs NOT_TRANSLATED -HP:0006505 Abnormality of limb epiphysis morphology NOT_TRANSLATED -HP:0006507 Absent/small long bone in upper arm NOT_TRANSLATED -HP:0006507 Absent/underdeveloped long bone in upper arm NOT_TRANSLATED -HP:0006508 Abnormality of end part of shinbone NOT_TRANSLATED -HP:0006509 Paratracheal air cyst NOT_TRANSLATED -HP:0006509 Tracheal diverticulosis NOT_TRANSLATED -HP:0006509 Tracheal diverticulum NOT_TRANSLATED -HP:0006509 Tracheocele NOT_TRANSLATED -HP:0006510 Chronic obstructive pulmonary disease NOT_TRANSLATED -HP:0006510 COPD NOT_TRANSLATED -HP:0006511 Laryngeal stidor NOT_TRANSLATED -HP:0006517 Alveolar proteinosis NOT_TRANSLATED -HP:0006517 Detection of PAS-positive extracellular material in broncho-alveolar lavage NOT_TRANSLATED -HP:0006517 Pulmonary alveolar proteinosis NOT_TRANSLATED -HP:0006518 Pulmonary venoocclusive disease NOT_TRANSLATED -HP:0006518 Pulmonary venous stenosis NOT_TRANSLATED -HP:0006521 Pulmonary lymphangiectasis NOT_TRANSLATED -HP:0006522 Repeated pneumothorax NOT_TRANSLATED -HP:0006527 Lymphocytic interstitial pneumonitis NOT_TRANSLATED -HP:0006527 Lymphoid interstitial pneumonia NOT_TRANSLATED -HP:0006527 Lymphoid interstitial pneumonitis NOT_TRANSLATED -HP:0006530 Abnormal lung parenchyma morphology NOT_TRANSLATED -HP:0006530 Abnormality in area between air sacs in lung NOT_TRANSLATED -HP:0006530 Interstitial lung disease NOT_TRANSLATED -HP:0006530 Interstitial pulmonary disease NOT_TRANSLATED -HP:0006532 Multiple pulmonary infections NOT_TRANSLATED -HP:0006532 Pneumonia, recurrent NOT_TRANSLATED -HP:0006532 Pneumonia, recurrent episodes NOT_TRANSLATED -HP:0006532 Pulmonary infection NOT_TRANSLATED -HP:0006532 Pulmonary infections NOT_TRANSLATED -HP:0006532 pulmonary infections, recurrent NOT_TRANSLATED -HP:0006532 Recurrent pulmonary infections NOT_TRANSLATED -HP:0006535 Recurrent bleeding into lungs NOT_TRANSLATED -HP:0006535 Recurrent intrapulmonary haemorrhage NOT_TRANSLATED -HP:0006535 Recurrent pulmonary haemorrhage NOT_TRANSLATED -HP:0006535 Recurrent pulmonary hemorrhage NOT_TRANSLATED -HP:0006536 Obstructive lung disease NOT_TRANSLATED -HP:0006536 Pulmonary obstruction NOT_TRANSLATED -HP:0006538 Recurrent infections in bronchi and lungs NOT_TRANSLATED -HP:0006539 Underdevelopment of the bronical cartilage NOT_TRANSLATED -HP:0006544 Diaphragmatic sequestrum NOT_TRANSLATED -HP:0006548 Pulmonary AV malformation NOT_TRANSLATED -HP:0006549 Primary pulmonary dysgenesis, unilateral NOT_TRANSLATED -HP:0006554 Acute liver failure NOT_TRANSLATED -HP:0006555 Hepatic steatosis, diffuse NOT_TRANSLATED -HP:0006559 Liver calcifications NOT_TRANSLATED -HP:0006560 Bile duct hyperplasia NOT_TRANSLATED -HP:0006568 Increased liver glycogen content NOT_TRANSLATED -HP:0006571 Hepatic ductopenia NOT_TRANSLATED -HP:0006571 Intrahepatic duct deficiency NOT_TRANSLATED -HP:0006573 Acute fatty liver NOT_TRANSLATED -HP:0006574 Liver arteriovenous malformation NOT_TRANSLATED -HP:0006576 Liver vascular malformations NOT_TRANSLATED -HP:0006579 Jaundice, neonatal NOT_TRANSLATED -HP:0006579 Neonatal jaundice NOT_TRANSLATED -HP:0006579 Prolonged yellowing of skin in newborn NOT_TRANSLATED -HP:0006580 Portal fibrosis shown on biopsy NOT_TRANSLATED -HP:0006584 Small abnormally formed scapula NOT_TRANSLATED -HP:0006584 Small abnormally formed shoulder blade NOT_TRANSLATED -HP:0006585 Bipartite clavicle NOT_TRANSLATED -HP:0006585 Clavicle pseudoarthrosis NOT_TRANSLATED -HP:0006585 Pseudoarthrosis of clavicle NOT_TRANSLATED -HP:0006587 Straight collarbone NOT_TRANSLATED -HP:0006590 Prematurely closed sternal sutures NOT_TRANSLATED -HP:0006591 Aplasia of the glenoid fossa NOT_TRANSLATED -HP:0006595 Fusion of shoulder blade to long bone in upper arm NOT_TRANSLATED -HP:0006595 Humero-scapulo synostosis NOT_TRANSLATED -HP:0006595 Humeroscapular synostosis NOT_TRANSLATED -HP:0006595 Synostosis of shoulder joint NOT_TRANSLATED -HP:0006597 Paralysed diaphragm NOT_TRANSLATED -HP:0006597 Paralyzed diaphragm NOT_TRANSLATED -HP:0006606 Irregular costochondral margins NOT_TRANSLATED -HP:0006608 Underdeveloped middle portion of the collarbone NOT_TRANSLATED -HP:0006610 Wide-spaced nipples NOT_TRANSLATED -HP:0006610 Widely spaced nipples NOT_TRANSLATED -HP:0006610 Widely-spaced nipples NOT_TRANSLATED -HP:0006611 Decreased number of sternal ossification centres NOT_TRANSLATED -HP:0006615 Absent rib calcification in utero NOT_TRANSLATED -HP:0006623 Sclerotic costochondral joints NOT_TRANSLATED -HP:0006625 Multifocal breast cancer NOT_TRANSLATED -HP:0006628 Absent bone maturation in sternum NOT_TRANSLATED -HP:0006628 Absent sternal mineralization NOT_TRANSLATED -HP:0006628 Lack of sternal ossification NOT_TRANSLATED -HP:0006631 Small distal segments of the shoulder blade NOT_TRANSLATED -HP:0006631 Small outermost segments of shoulder blade NOT_TRANSLATED -HP:0006631 Underdeveloped outermost segments of shoulder blade NOT_TRANSLATED -HP:0006633 Glenoid hypoplasia NOT_TRANSLATED -HP:0006633 Hypoplastic glenoid fossa NOT_TRANSLATED -HP:0006634 Increased bone density in ribs NOT_TRANSLATED -HP:0006638 Missing middle part of collarbone NOT_TRANSLATED -HP:0006642 Large sternal ossification centres NOT_TRANSLATED -HP:0006643 Fused sternal ossification centres NOT_TRANSLATED -HP:0006645 Thin collarbone NOT_TRANSLATED -HP:0006646 Cartilaginous ossification of rib NOT_TRANSLATED -HP:0006649 Costochondral junction pain NOT_TRANSLATED -HP:0006650 Thickening of the lateral border of the shoulder blade NOT_TRANSLATED -HP:0006657 Hypoplastic first rib NOT_TRANSLATED -HP:0006657 Hypoplastic first ribs NOT_TRANSLATED -HP:0006657 Small first rib NOT_TRANSLATED -HP:0006657 Underdeveloped first rib NOT_TRANSLATED -HP:0006660 Absent clavicles NOT_TRANSLATED -HP:0006660 Absent collarbone NOT_TRANSLATED -HP:0006660 Aplastic clavicles NOT_TRANSLATED -HP:0006668 Small twelfth rib NOT_TRANSLATED -HP:0006668 Underdeveloped twelfth rib NOT_TRANSLATED -HP:0006677 Intraventricular conduction delay NOT_TRANSLATED -HP:0006677 Prolonged QRS complex on EKG NOT_TRANSLATED -HP:0006677 QRS widening NOT_TRANSLATED -HP:0006682 Extra heart beat NOT_TRANSLATED -HP:0006682 Missed heartbeat NOT_TRANSLATED -HP:0006682 Premature ventricular beat NOT_TRANSLATED -HP:0006682 Premature ventricular contractions NOT_TRANSLATED -HP:0006682 Skipped heartbeat NOT_TRANSLATED -HP:0006682 Ventricular ectopics NOT_TRANSLATED -HP:0006682 Ventricular extrasystoles NOT_TRANSLATED -HP:0006682 Ventricular premature beat NOT_TRANSLATED -HP:0006685 Endomyocardial fibrosis NOT_TRANSLATED -HP:0006689 Infective endocarditis NOT_TRANSLATED -HP:0006690 Calcified myocardium NOT_TRANSLATED -HP:0006695 Atrioventricular septal defect NOT_TRANSLATED -HP:0006695 Endocardial cushion defect NOT_TRANSLATED -HP:0006695 Hole in center of heart NOT_TRANSLATED -HP:0006695 Hole in centre of heart NOT_TRANSLATED -HP:0006698 Ventricular aneurysm NOT_TRANSLATED -HP:0006699 Atrial ectopic beats NOT_TRANSLATED -HP:0006699 Atrial premature complex NOT_TRANSLATED -HP:0006699 Ectopic supraventricular rhythms NOT_TRANSLATED -HP:0006699 PACs NOT_TRANSLATED -HP:0006699 Premature supraventricular beats NOT_TRANSLATED -HP:0006703 Absent/small lungs NOT_TRANSLATED -HP:0006703 Absent/underdeveloped lungs NOT_TRANSLATED -HP:0006705 Abnormality of the atrioventricular valves NOT_TRANSLATED -HP:0006707 Abnormality of liver blood vessels NOT_TRANSLATED -HP:0006707 Abnormality of the liver vasculature NOT_TRANSLATED -HP:0006709 Absent/rudimentary nipples NOT_TRANSLATED -HP:0006709 Absent/small nipples NOT_TRANSLATED -HP:0006709 Absent/underdeveloped nipples NOT_TRANSLATED -HP:0006709 Nipples absent or rudimentary NOT_TRANSLATED -HP:0006710 Absent/small collarbone NOT_TRANSLATED -HP:0006710 Absent/underdeveloped collarbone NOT_TRANSLATED -HP:0006711 Absent/small outermost thorax bone NOT_TRANSLATED -HP:0006711 Absent/underdeveloped thorax bone NOT_TRANSLATED -HP:0006712 Absent/small ribs NOT_TRANSLATED -HP:0006712 Absent/underdeveloped ribs NOT_TRANSLATED -HP:0006712 Hypoplastic or missing ribs NOT_TRANSLATED -HP:0006713 Absent/small shoulder blade NOT_TRANSLATED -HP:0006713 Absent/underdeveloped shoulder blade NOT_TRANSLATED -HP:0006714 Absent/small sternum NOT_TRANSLATED -HP:0006714 Absent/underdeveloped sternum NOT_TRANSLATED -HP:0006715 Tympanic nerve tumor NOT_TRANSLATED -HP:0006715 Tympanic nerve tumors NOT_TRANSLATED -HP:0006715 Tympanic nerve tumour NOT_TRANSLATED -HP:0006715 Tympanic nerve tumours NOT_TRANSLATED -HP:0006719 Benign gastrointestinal tract tumours NOT_TRANSLATED -HP:0006719 Benign GI tract tumors NOT_TRANSLATED -HP:0006719 Benign GI tract tumours NOT_TRANSLATED -HP:0006719 Non-cancerous GI tumors NOT_TRANSLATED -HP:0006719 Non-cancerous GI tumours NOT_TRANSLATED -HP:0006721 Acute lymphatic leukaemia NOT_TRANSLATED -HP:0006721 Acute lymphatic leukemia NOT_TRANSLATED -HP:0006721 Acute lymphoblastic leukaemia NOT_TRANSLATED -HP:0006721 Acute lymphocytic leukaemia NOT_TRANSLATED -HP:0006721 Acute lymphocytic leukemia NOT_TRANSLATED -HP:0006721 Acute lymphoid leukaemia NOT_TRANSLATED -HP:0006721 Acute lymphoid leukemia NOT_TRANSLATED -HP:0006733 Acute megakaryocytic leukaemia NOT_TRANSLATED -HP:0006733 AMegL NOT_TRANSLATED -HP:0006735 Kidney cortical adenoma NOT_TRANSLATED -HP:0006737 Pheochromocytoma, extraadrenal NOT_TRANSLATED -HP:0006739 Squamous skin carcinoma NOT_TRANSLATED -HP:0006740 Transitional cell bladder carcinoma NOT_TRANSLATED -HP:0006744 Adrenal carcinoma NOT_TRANSLATED -HP:0006744 Adrenal gland carinoma NOT_TRANSLATED -HP:0006748 Pheochromocytoma, adrenal NOT_TRANSLATED -HP:0006748 Pheochromocytomas, adrenal NOT_TRANSLATED -HP:0006749 Malignant gastrointestinal tract tumours NOT_TRANSLATED -HP:0006749 Malignant GI tract tumors NOT_TRANSLATED -HP:0006749 Malignant GI tract tumours NOT_TRANSLATED -HP:0006753 Neoplasia of the stomach NOT_TRANSLATED -HP:0006753 Stomach tumor NOT_TRANSLATED -HP:0006753 Stomach tumour NOT_TRANSLATED -HP:0006758 Malignant genitourinary tract tumour NOT_TRANSLATED -HP:0006758 Malignant GU tract tumor NOT_TRANSLATED -HP:0006758 Malignant GU tract tumour NOT_TRANSLATED -HP:0006767 Pituitary prolactinoma NOT_TRANSLATED -HP:0006767 Prolactin-secreting pituitary adenoma NOT_TRANSLATED -HP:0006768 Localised neuroblastoma NOT_TRANSLATED -HP:0006769 Myxoid subcutaneous tumours NOT_TRANSLATED -HP:0006770 Nonpapillary renal cell carcinoma NOT_TRANSLATED -HP:0006771 Duodenal cancer NOT_TRANSLATED -HP:0006772 Angiomyolipoma NOT_TRANSLATED -HP:0006772 Kidney angiomyolipoma NOT_TRANSLATED -HP:0006775 Kahler's disease NOT_TRANSLATED -HP:0006775 Plasmocytoma NOT_TRANSLATED -HP:0006778 Benign genitourinary tract tumor NOT_TRANSLATED -HP:0006778 Benign genitourinary tract tumour NOT_TRANSLATED -HP:0006778 Benign GU tract neoplasm NOT_TRANSLATED -HP:0006780 Parathyroid Cancer NOT_TRANSLATED -HP:0006784 Atelectasis of paranasal sinus NOT_TRANSLATED -HP:0006784 Decreased growth of paranasal sinus NOT_TRANSLATED -HP:0006784 Decreased pneumatization of paranasal sinus NOT_TRANSLATED -HP:0006784 Decreased size of paranasal sinus NOT_TRANSLATED -HP:0006784 Decreased volume of paranasal sinus NOT_TRANSLATED -HP:0006784 Hypotrophic paranasal sinus NOT_TRANSLATED -HP:0006784 Small paranasal sinus NOT_TRANSLATED -HP:0006784 Underdevelopment of paranasal sinus NOT_TRANSLATED -HP:0006785 limb girdle muscular dystrophy NOT_TRANSLATED -HP:0400004 Long ears NOT_TRANSLATED -HP:0400005 Short ears NOT_TRANSLATED -HP:0400002 Concha, Extra Fold NOT_TRANSLATED -HP:0400000 Increased height of chin NOT_TRANSLATED -HP:0400000 Increased height of menton region NOT_TRANSLATED -HP:0400000 Long chin NOT_TRANSLATED -HP:0400000 Long lower third of face NOT_TRANSLATED -HP:0400000 Vertical excess of chin NOT_TRANSLATED -HP:0400000 Vertical hyperplasia of chin NOT_TRANSLATED -HP:0400001 Chin with vertical furrow NOT_TRANSLATED -HP:0400001 Chin with vertical groove NOT_TRANSLATED -HP:0400001 Chin with vertical sulcus NOT_TRANSLATED -HP:0400001 Chin, vertical crease NOT_TRANSLATED -HP:0400001 Cleft chin NOT_TRANSLATED -HP:0400001 Vertical chin skin cleft NOT_TRANSLATED -HP:0400001 Vertical menton crease NOT_TRANSLATED -HP:0006799 Cystic lesions in the basal ganglia NOT_TRANSLATED -HP:0006802 Abnormality of the anterior horn cell NOT_TRANSLATED -HP:0006802 Abnormality of the anterior horn cells NOT_TRANSLATED -HP:0006802 Anomaly of the anterior horn cells NOT_TRANSLATED -HP:0006802 Anterior horn cell disease NOT_TRANSLATED -HP:0006808 Hypomyelination of the brain NOT_TRANSLATED -HP:0006813 Hemiclonic seizure NOT_TRANSLATED -HP:0006813 Hemiclonic seizures NOT_TRANSLATED -HP:0006813 Unilateral clonic seizure NOT_TRANSLATED -HP:0006813 Unilateral clonic seizures NOT_TRANSLATED -HP:0006817 Cerebellar vermis aplasia or hypoplasia NOT_TRANSLATED -HP:0006817 Cerebellar vermis aplasia/hypoplasia NOT_TRANSLATED -HP:0006817 Hypo/aplastic vermis NOT_TRANSLATED -HP:0006818 Classic lissencephaly NOT_TRANSLATED -HP:0006818 Four-layered lissencephaly NOT_TRANSLATED -HP:0006818 Lissencephaly, type I NOT_TRANSLATED -HP:0006818 Type 1 lissencephaly NOT_TRANSLATED -HP:0006818 Type I lissencephaly NOT_TRANSLATED -HP:0006821 Polymicrogyria, anterior to posterior gradient NOT_TRANSLATED -HP:0006824 Cranial nerve palsies NOT_TRANSLATED -HP:0006824 Cranial nerve palsy NOT_TRANSLATED -HP:0006824 Cranial nerve paresis NOT_TRANSLATED -HP:0006827 Degeneration of the spinal cord NOT_TRANSLATED -HP:0006829 Hypotonia, severe NOT_TRANSLATED -HP:0006829 Severely decreased muscle tone NOT_TRANSLATED -HP:0006844 Absent knee jerk reflex NOT_TRANSLATED -HP:0006850 Underdeveloped ventral pons NOT_TRANSLATED -HP:0006851 Spinal nerve root neurofibromas, symmetric, multiple NOT_TRANSLATED -HP:0006852 Episodic generalised hypotonia NOT_TRANSLATED -HP:0006855 Atrophy of cerebellar vermis NOT_TRANSLATED -HP:0006855 Atrophy of the cerebellar vermis NOT_TRANSLATED -HP:0006855 Vermian atrophy NOT_TRANSLATED -HP:0006858 Distal sensory loss of proprioception NOT_TRANSLATED -HP:0006866 Midline CNS lipomas NOT_TRANSLATED -HP:0006872 Small cerebrum NOT_TRANSLATED -HP:0006872 Underdeveloped cerebrum NOT_TRANSLATED -HP:0006879 Cerebellopontine atrophy NOT_TRANSLATED -HP:0006880 Hemangioblastoma, sporadic cerebellar NOT_TRANSLATED -HP:0006886 Decreased distal vibration sense NOT_TRANSLATED -HP:0006887 Mentale retardatie, progressief CANDIDATE -HP:0006887 Progressieve mentale retardatie CANDIDATE -HP:0006889 Mentale retardatie, borderline CANDIDATE -HP:0006892 Cerebral atrophy, frontotemporal NOT_TRANSLATED -HP:0006897 Abducens nerve palsy NOT_TRANSLATED -HP:0006897 Abducens nerve paralysis NOT_TRANSLATED -HP:0006897 Abducens nerve paresis NOT_TRANSLATED -HP:0006897 Cranial nerve VI palsy NOT_TRANSLATED -HP:0006897 Lateral rectus muscle denervation paresis NOT_TRANSLATED -HP:0006897 Sixth nerve palsy NOT_TRANSLATED -HP:0006913 Frontal cortex degeneration NOT_TRANSLATED -HP:0006916 Intraaxonal accumulation of curvilinear profiles NOT_TRANSLATED -HP:0006919 Abnormal aggressive, impulsive or violent behaviour NOT_TRANSLATED -HP:0006919 Aggressive/violent behavior NOT_TRANSLATED -HP:0006919 Aggressive/violent behaviour NOT_TRANSLATED -HP:0006931 Lipoma of corpus callosum NOT_TRANSLATED -HP:0006934 Nystagmus, congenital NOT_TRANSLATED -HP:0006937 Decreased distal touch sense NOT_TRANSLATED -HP:0006937 Decreased touch sensation in extremities NOT_TRANSLATED -HP:0006938 Decreased vibration sense at ankles NOT_TRANSLATED -HP:0006938 Decreased vibration sense in feet NOT_TRANSLATED -HP:0006944 Apallesthesia NOT_TRANSLATED -HP:0006956 Dilatation of lateral cerebral ventricles NOT_TRANSLATED -HP:0006956 Dilation of lateral ventricles NOT_TRANSLATED -HP:0006956 Enlarged lateral ventricles NOT_TRANSLATED -HP:0006958 Abnormal brainstem auditory-evoked potentials NOT_TRANSLATED -HP:0006960 Calcified choroid plexus NOT_TRANSLATED -HP:0006961 Head jerking NOT_TRANSLATED -HP:0006961 Jerking head movements NOT_TRANSLATED -HP:0006962 Unstable walking, worse in the dark NOT_TRANSLATED -HP:0006970 PVL NOT_TRANSLATED -HP:0006980 Leukoencephalopathy, progressive NOT_TRANSLATED -HP:0006986 Uncontrollable movement in upper arms NOT_TRANSLATED -HP:0006989 Dysgenesis of corpus callosum NOT_TRANSLATED -HP:0006989 Dysplasia of corpus callosum NOT_TRANSLATED -HP:0006999 Gliosis in the basal ganglia NOT_TRANSLATED -HP:0007002 Distal motor neuropathy NOT_TRANSLATED -HP:0007002 Length dependent motor neuropathy NOT_TRANSLATED -HP:0007009 CNS degeneration NOT_TRANSLATED -HP:0007010 Fine motor disability NOT_TRANSLATED -HP:0007010 Fine motor impairment NOT_TRANSLATED -HP:0007010 Fine motor skill dysfunction NOT_TRANSLATED -HP:0007010 Impaired fine motor skills NOT_TRANSLATED -HP:0007011 Trochlear nerve palsy NOT_TRANSLATED -HP:0007015 Gross motor impairment NOT_TRANSLATED -HP:0007017 Forgetfullness NOT_TRANSLATED -HP:0007018 ADHD NOT_TRANSLATED -HP:0007018 Attention deficit NOT_TRANSLATED -HP:0007018 Attention deficit disorder NOT_TRANSLATED -HP:0007018 Attention deficit-hyperactivity disorder NOT_TRANSLATED -HP:0007018 Attention deficits NOT_TRANSLATED -HP:0007018 Childhood attention deficit/hyperactivity disorder NOT_TRANSLATED -HP:0007021 Absence of pain sensation NOT_TRANSLATED -HP:0007023 Antenatal intracerebral haemorrhage NOT_TRANSLATED -HP:0007024 Pseudobulbar palsy NOT_TRANSLATED -HP:0007024 Pseudobulbar syndrome NOT_TRANSLATED -HP:0007029 Cerebral saccular aneurysm NOT_TRANSLATED -HP:0007034 Generalised hyperreflexia NOT_TRANSLATED -HP:0007036 Underdeveloped olfactory tract NOT_TRANSLATED -HP:0007054 Hyperreflexia proximally NOT_TRANSLATED -HP:0007058 Generalised cerebral atrophy/hypoplasia NOT_TRANSLATED -HP:0007058 Generalised cerebral degeneration/underdevelopment NOT_TRANSLATED -HP:0007058 Generalized cerebral degeneration/underdevelopment NOT_TRANSLATED -HP:0007063 Absent inferior half of the cerebellar vermis NOT_TRANSLATED -HP:0007065 Disorganisation of the anterior cerebellar vermis NOT_TRANSLATED -HP:0007067 Peripheral sensory neuropathy, distal NOT_TRANSLATED -HP:0007068 Hypoplasia of inferior vermis NOT_TRANSLATED -HP:0007068 Inferior vermis hypoplasia NOT_TRANSLATED -HP:0007074 Abnormal size of corpus callosum NOT_TRANSLATED -HP:0007074 Large corpus callosum NOT_TRANSLATED -HP:0007083 Brisk knee jerk NOT_TRANSLATED -HP:0007083 Hyperreflexia in knees NOT_TRANSLATED -HP:0007083 Overactive knee reflex NOT_TRANSLATED -HP:0007096 Underdeveloped optic tract NOT_TRANSLATED -HP:0007098 Choreoathetosis, episodic NOT_TRANSLATED -HP:0007098 Choreoathetosis, intermittent NOT_TRANSLATED -HP:0007099 Arnold Chiari type I malformation NOT_TRANSLATED -HP:0007099 Arnold-Chiari type I malformation NOT_TRANSLATED -HP:0007099 Chiari I malformation NOT_TRANSLATED -HP:0007103 White matter hypointensities on MRI NOT_TRANSLATED -HP:0007126 Muscle atrophy, proximal NOT_TRANSLATED -HP:0007126 Proximal muscle atrophy NOT_TRANSLATED -HP:0007126 Proximal muscle wasting NOT_TRANSLATED -HP:0007126 Symmetric proximal muscular atrophy NOT_TRANSLATED -HP:0007126 Symmetrical, proximal limb muscle atrophy NOT_TRANSLATED -HP:0007126 Wasting of muscles near the body NOT_TRANSLATED -HP:0007133 Progressive polyneuropathy NOT_TRANSLATED -HP:0007141 Mixed polyneuropathy NOT_TRANSLATED -HP:0007141 Nerve damage causing decreased feeling and movement NOT_TRANSLATED -HP:0007141 Sensorimotor peripheral neuropathy NOT_TRANSLATED -HP:0007149 Distal upper limb muscle atrophy NOT_TRANSLATED -HP:0007158 Progressive extrapyramidal rigidity NOT_TRANSLATED -HP:0007165 Periventricular gray matter heterotopia NOT_TRANSLATED -HP:0007165 Periventricular grey matter heterotopia NOT_TRANSLATED -HP:0007165 Periventricular neuronal heterotopia NOT_TRANSLATED -HP:0007165 Subependymal gray matter heterotopia NOT_TRANSLATED -HP:0007165 Subependymal grey matter heterotopia NOT_TRANSLATED -HP:0007165 Subependymal neuronal heterotopia NOT_TRANSLATED -HP:0007166 Involuntary dystonic or choreiform movements NOT_TRANSLATED -HP:0007178 Peripheral motor neuropathy NOT_TRANSLATED -HP:0007181 Interosseous muscular atrophy NOT_TRANSLATED -HP:0007183 Hyperintense lesions in the basal ganglia on MRI NOT_TRANSLATED -HP:0007185 Passing out NOT_TRANSLATED -HP:0007188 Congenital bilateral facial palsy NOT_TRANSLATED -HP:0007188 Congenital bilateral facial weakness NOT_TRANSLATED -HP:0007193 Generalised tonic-clonic seizures on awakening NOT_TRANSLATED -HP:0007193 Generalized tonic-clonic seizures on awakening NOT_TRANSLATED -HP:0007193 Morning generalised tonic-clonic seizures NOT_TRANSLATED -HP:0007193 Morning generalized tonic-clonic seizures NOT_TRANSLATED -HP:0007201 Plaque build-up in cerebral artery NOT_TRANSLATED -HP:0007207 Photically induced tonic-clonic seizure NOT_TRANSLATED -HP:0007207 Photosensitive tonic-clonic seizures NOT_TRANSLATED -HP:0007207 Seizures, tonic-clonic, photosensitive NOT_TRANSLATED -HP:0007209 Facial paresis NOT_TRANSLATED -HP:0007215 Hyperkalemic periodic paralysis NOT_TRANSLATED -HP:0007238 Cerebral calcification, nonarteriosclerotic NOT_TRANSLATED -HP:0040007 Lack of skin coloring on chest NOT_TRANSLATED -HP:0040007 Lack of skin colouring on chest NOT_TRANSLATED -HP:0007240 Gait ataxia, progressive NOT_TRANSLATED -HP:0040008 Absence of facial bones NOT_TRANSLATED -HP:0040008 Agenesis of facial bones NOT_TRANSLATED -HP:0040008 Aplasia of facial skeleton NOT_TRANSLATED -HP:0040008 Failure of development of facial bones NOT_TRANSLATED -HP:0040008 Failure of development of facial skeleton NOT_TRANSLATED -HP:0040008 Missing facial bones NOT_TRANSLATED -HP:0040012 High frequency of chromosome breaks in lymphocytes NOT_TRANSLATED -HP:0040012 Increased chromosomal breakage NOT_TRANSLATED -HP:0040012 Increased chromosomal breakage rate NOT_TRANSLATED -HP:0040012 Multiple chromosomal breaks NOT_TRANSLATED -HP:0040012 Tendency to chromosomal breakage NOT_TRANSLATED -HP:0040016 Prominent tailbone NOT_TRANSLATED -HP:0007249 Decreased number of small peripheral myelinated nerve fibres NOT_TRANSLATED -HP:0040017 Protruding tailbone NOT_TRANSLATED -HP:0040018 Curvature of big toe NOT_TRANSLATED -HP:0040019 Curvature of finger NOT_TRANSLATED -HP:0040022 Curvature of index finger NOT_TRANSLATED -HP:0040022 Second finger clinodactyly NOT_TRANSLATED -HP:0040023 Curvature of thumb NOT_TRANSLATED -HP:0007256 Corticospinal signs NOT_TRANSLATED -HP:0007256 Pyramidal signs NOT_TRANSLATED -HP:0007256 Pyramidal tract signs NOT_TRANSLATED -HP:0040024 Curvature of middle finger NOT_TRANSLATED -HP:0040025 Curvature of ring finger NOT_TRANSLATED -HP:0007260 Cobblestone lissencephaly NOT_TRANSLATED -HP:0007260 Lissencephaly type II NOT_TRANSLATED -HP:0007260 Type 2 lissencephaly NOT_TRANSLATED -HP:0040032 Decreased size of upper eyelid NOT_TRANSLATED -HP:0040032 Hypotrophic upper eyelid NOT_TRANSLATED -HP:0040032 Short upper eyelid NOT_TRANSLATED -HP:0040032 Small upper eyelid NOT_TRANSLATED -HP:0040032 Underdevelopment of upper eyelid NOT_TRANSLATED -HP:0040033 Absent/small 5th long bone of foot NOT_TRANSLATED -HP:0040033 Absent/underdeveloped 5th long bone of foot NOT_TRANSLATED -HP:0007266 Areas of dysmyelination on MRI NOT_TRANSLATED -HP:0007266 Dysmyelination of the brain NOT_TRANSLATED -HP:0007266 White matter dysmyelination/demyelination NOT_TRANSLATED -HP:0040034 Abnormality of the 2nd long bone of foot NOT_TRANSLATED -HP:0007267 Chronic sural axonal neuropathy NOT_TRANSLATED -HP:0040035 Abnormality of the 4th long bone of foot NOT_TRANSLATED -HP:0040036 Overgrowth and curving of fingernail NOT_TRANSLATED -HP:0007269 Spinal muscle degeneration NOT_TRANSLATED -HP:0007269 Spinal muscle wasting NOT_TRANSLATED -HP:0007270 Atypical absence NOT_TRANSLATED -HP:0007270 Atypical absence seizures NOT_TRANSLATED -HP:0007270 Atypical petit mal seizures NOT_TRANSLATED -HP:0040039 Detachment of fingernails NOT_TRANSLATED -HP:0040039 Onycholysis of fingernail NOT_TRANSLATED -HP:0007272 Progressive mental and motor deterioration NOT_TRANSLATED -HP:0040040 Detachment of toenails NOT_TRANSLATED -HP:0040040 Onycholysis of toenails NOT_TRANSLATED -HP:0040042 Absent eccrine sweat glands NOT_TRANSLATED -HP:0040043 Underdeveloped major sweat glands NOT_TRANSLATED -HP:0040044 Underdeveloped diaphragm NOT_TRANSLATED -HP:0040045 Abnormality of the hemidiaphragms NOT_TRANSLATED -HP:0040046 Abnormality of the left hemidiaphragm NOT_TRANSLATED -HP:0040047 Abnormality of the right hemidiaphragm NOT_TRANSLATED -HP:0007281 Developmental arrest NOT_TRANSLATED -HP:0040049 Macular oedema NOT_TRANSLATED -HP:0040050 Hypotrichosis of upper eyelashes NOT_TRANSLATED -HP:0040050 Partial absence of upper eyelashes NOT_TRANSLATED -HP:0007285 Facial palsy caused by enlargement of cranial bones NOT_TRANSLATED -HP:0007285 Facial palsy caused by excessive growth of facial bones NOT_TRANSLATED -HP:0007285 Facial palsy caused by overgrowth of cranial bones NOT_TRANSLATED -HP:0007285 Facial palsy secondary to hypertrophy of cranial bones NOT_TRANSLATED -HP:0040053 Ciliary trichomegaly of lower eyelashes NOT_TRANSLATED -HP:0040053 Increased length of lower eyelashes NOT_TRANSLATED -HP:0040054 Decreased length of upper eyelashes NOT_TRANSLATED -HP:0040055 Decreased length of lower eyelashes NOT_TRANSLATED -HP:0040056 Agenesis of upper eyelashes NOT_TRANSLATED -HP:0040056 Aplasia of upper eyelashes NOT_TRANSLATED -HP:0040056 Atrichia of upper eyelashes NOT_TRANSLATED -HP:0040056 Failure of development of upper eyelashes NOT_TRANSLATED -HP:0007289 Limb fasciculation NOT_TRANSLATED -HP:0040057 Abnormality of nose hair NOT_TRANSLATED -HP:0040063 Decreased fat tissue NOT_TRANSLATED -HP:0040064 Abnormal limbs NOT_TRANSLATED -HP:0040064 Dysmelia NOT_TRANSLATED -HP:0040064 Limb anomaly NOT_TRANSLATED -HP:0007301 Oral-motor apraxia NOT_TRANSLATED -HP:0040069 Abnormal morphology of bones of the lower limbs NOT_TRANSLATED -HP:0040069 Abnormal shape of bones of the lower limbs NOT_TRANSLATED -HP:0040069 Abnormality of lower limb bone NOT_TRANSLATED -HP:0007302 Bipolar disorder NOT_TRANSLATED -HP:0040070 Abnormal morphology of bones of the upper limbs NOT_TRANSLATED -HP:0040070 Abnormal shape of bones of the upper limbs NOT_TRANSLATED -HP:0040070 Abnormality of upper limb bone NOT_TRANSLATED -HP:0040072 Abnormality of forearm bone NOT_TRANSLATED -HP:0007305 Demyelination in central white matter NOT_TRANSLATED -HP:0007311 Short stepped shuffling walk NOT_TRANSLATED -HP:0040079 Irregular teeth NOT_TRANSLATED -HP:0007313 Neuroaxonal degeneration in the brain NOT_TRANSLATED -HP:0040081 Abnormal circulating CK concentration NOT_TRANSLATED -HP:0040081 Abnormal circulating CPK concentration NOT_TRANSLATED -HP:0040081 Abnormal circulation phospho-CK concentration NOT_TRANSLATED -HP:0040081 Abnormal levels of creatine kinase in blood NOT_TRANSLATED -HP:0040082 Happy demeanour NOT_TRANSLATED -HP:0040084 Abnormal plasma renin NOT_TRANSLATED -HP:0040085 Abnormal plasma aldosterone NOT_TRANSLATED -HP:0040087 Abnormal serum folate NOT_TRANSLATED -HP:0040087 Abnormality of folate in blood NOT_TRANSLATED -HP:0040088 Abnormal lymphocyte counts NOT_TRANSLATED -HP:0040088 Abnormal number of lymphocytes NOT_TRANSLATED -HP:0040088 Abnormal numbers of lymphocytes NOT_TRANSLATED -HP:0040088 Abnormality of lymphocyte number NOT_TRANSLATED -HP:0007321 Deep cerebral white matter hypodensities NOT_TRANSLATED -HP:0040089 Abnormal NK cell count NOT_TRANSLATED -HP:0040089 Abnormal number of natural killer cells NOT_TRANSLATED -HP:0040089 Abnormality of natural killer cell count NOT_TRANSLATED -HP:0040090 Abnormality of the eardrum NOT_TRANSLATED -HP:0007325 Generalised dystonia NOT_TRANSLATED -HP:0040093 Uneven ears NOT_TRANSLATED -HP:0040095 Outer ear tumor NOT_TRANSLATED -HP:0040095 Outer ear tumour NOT_TRANSLATED -HP:0007328 Decreased pain sensation NOT_TRANSLATED -HP:0007328 Decreased pinprick sensation NOT_TRANSLATED -HP:0040096 Inner ear tumor NOT_TRANSLATED -HP:0040096 Inner ear tumour NOT_TRANSLATED -HP:0040097 Adenoma of the ceruminous gland NOT_TRANSLATED -HP:0040097 Ceruminoma NOT_TRANSLATED -HP:0040097 Ceruminous adenoma NOT_TRANSLATED -HP:0007332 Hemifacial seizures NOT_TRANSLATED -HP:0040100 Abnormality of the oval window NOT_TRANSLATED -HP:0007333 Frontal lobe hypoplasia NOT_TRANSLATED -HP:0007333 Hypoplastic frontal lobes NOT_TRANSLATED -HP:0007333 Underdeveloped frontal lobe NOT_TRANSLATED -HP:0007334 Focal seizure with secondary generalisation NOT_TRANSLATED -HP:0007334 Focal seizure with secondary generalization NOT_TRANSLATED -HP:0007334 Focal to bilateral tonic-clonic seizure NOT_TRANSLATED -HP:0007334 Generalised tonic-clonic seizure with focal onset NOT_TRANSLATED -HP:0007334 Generalised tonic-clonic seizure with partial onset NOT_TRANSLATED -HP:0007334 Generalised tonic-clonic seizures with focal onset NOT_TRANSLATED -HP:0007334 Generalized tonic-clonic seizure with focal onset NOT_TRANSLATED -HP:0007334 Generalized tonic-clonic seizure with partial onset NOT_TRANSLATED -HP:0007334 Generalized tonic-clonic seizures with focal onset NOT_TRANSLATED -HP:0007334 Partial seizure with secondary generalisation NOT_TRANSLATED -HP:0007334 Partial seizure with secondary generalization NOT_TRANSLATED -HP:0007334 Partial seizures with secondary generalisation NOT_TRANSLATED -HP:0007334 Partial seizures with secondary generalization NOT_TRANSLATED -HP:0007334 Secondarily generalised tonic-clonic seizure NOT_TRANSLATED -HP:0007334 Secondarily generalised tonic-clonic seizures NOT_TRANSLATED -HP:0007334 Secondarily generalized tonic-clonic seizure NOT_TRANSLATED -HP:0007334 Secondary generalised tonic clonic seizures NOT_TRANSLATED -HP:0007334 Secondary generalised tonic-clonic seizures NOT_TRANSLATED -HP:0007334 Secondary generalized tonic clonic seizures NOT_TRANSLATED -HP:0007334 Secondary generalized tonic-clonic seizures NOT_TRANSLATED -HP:0007335 Recurrent cerebellar and extrapyramidal encephalopathy NOT_TRANSLATED -HP:0040106 Morphological abnormality of the horizontal semicircular canal NOT_TRANSLATED -HP:0007340 Leg weakness NOT_TRANSLATED -HP:0007340 Lower extremity weakness NOT_TRANSLATED -HP:0007340 Lower limb weakness NOT_TRANSLATED -HP:0007340 Muscle weakness in lower limbs NOT_TRANSLATED -HP:0007343 Limbic malformation NOT_TRANSLATED -HP:0007344 Atrophic and degenerative changes in the spinal cord NOT_TRANSLATED -HP:0040113 Presbycusis NOT_TRANSLATED -HP:0040115 Abnormality of the Eustachian tube NOT_TRANSLATED -HP:0040116 Absent eustachian tube NOT_TRANSLATED -HP:0007351 Postural tremor of arms NOT_TRANSLATED -HP:0040121 Abnormal auditory reflex NOT_TRANSLATED -HP:0040121 Abnormal middle-ear-muscles (MEM) reflex NOT_TRANSLATED -HP:0040121 Abnormality of stapedial reflex NOT_TRANSLATED -HP:0007354 Lou Gehrig's disease NOT_TRANSLATED -HP:0040126 Abnormal serum cobalamin level NOT_TRANSLATED -HP:0007359 Focal onset seizure NOT_TRANSLATED -HP:0007359 Focal seizure NOT_TRANSLATED -HP:0007359 Focal seizures NOT_TRANSLATED -HP:0007359 Focal-onset seizures NOT_TRANSLATED -HP:0007359 Partial seizure NOT_TRANSLATED -HP:0007359 Partial seizures NOT_TRANSLATED -HP:0007359 Seizure affecting one half of brain NOT_TRANSLATED -HP:0007360 Absent/small cerebellum NOT_TRANSLATED -HP:0007360 Absent/underdeveloped cerebellum NOT_TRANSLATED -HP:0007360 Atrophy/Degeneration affecting the cerebellum NOT_TRANSLATED -HP:0007360 Atrophy/Hypoplasia of the cerebellum NOT_TRANSLATED -HP:0007360 Cerebellar hypoplasia/atrophy NOT_TRANSLATED -HP:0007361 Abnormality of the pons NOT_TRANSLATED -HP:0040129 Abnormal nerve conduction NOT_TRANSLATED -HP:0040129 Abnormal nerve conduction velocities NOT_TRANSLATED -HP:0040129 Nerve conduction abnormalities NOT_TRANSLATED -HP:0007362 Absent/small brainstem NOT_TRANSLATED -HP:0007362 Absent/underdeveloped brainstem NOT_TRANSLATED -HP:0007364 Absent/small cerebrum NOT_TRANSLATED -HP:0007364 Absent/underdeveloped cerebrum NOT_TRANSLATED -HP:0040133 Abnormal plasma ferritin NOT_TRANSLATED -HP:0040133 Abnormal serum ferritin NOT_TRANSLATED -HP:0007366 Brainstem atrophy NOT_TRANSLATED -HP:0040134 Abnormal liver iron concentration NOT_TRANSLATED -HP:0040134 Abnormal liver iron level NOT_TRANSLATED -HP:0007367 Atrophy/Degeneration affecting the CNS NOT_TRANSLATED -HP:0040137 Comedogenic acne NOT_TRANSLATED -HP:0007370 Absent/hypoplastic corpus callosum NOT_TRANSLATED -HP:0007370 Agenesis/hypoplastic corpus callosum NOT_TRANSLATED -HP:0007370 Complete or partial absence of the corpus callosum NOT_TRANSLATED -HP:0007370 Hypoplasia or absence of the corpus callosum NOT_TRANSLATED -HP:0007370 Hypoplastic or absent corpus callosum NOT_TRANSLATED -HP:0040138 Histiocytosis, mucinous NOT_TRANSLATED -HP:0007371 Atrophic corpus callosum NOT_TRANSLATED -HP:0007371 Atrophy of the corpus callosum NOT_TRANSLATED -HP:0007371 Atrophy/Degeneration of the corpus callosum NOT_TRANSLATED -HP:0007373 Motor neuron degeneration NOT_TRANSLATED -HP:0040142 5-oxoprolinase deficiency NOT_TRANSLATED -HP:0007375 Abnormality of the septum pellucidum NOT_TRANSLATED -HP:0007377 Abnormality of SSEPs NOT_TRANSLATED -HP:0007378 Gastrointestinal tract neoplasia NOT_TRANSLATED -HP:0007378 Gastrointestinal tract neoplasm NOT_TRANSLATED -HP:0007378 Gastrointestinal tract tumor NOT_TRANSLATED -HP:0007378 Gastrointestinal tract tumour NOT_TRANSLATED -HP:0007378 GI tract tumor NOT_TRANSLATED -HP:0007378 GI tract tumour NOT_TRANSLATED -HP:0007378 Neoplasm of the GI tract NOT_TRANSLATED -HP:0007379 Genitourinary tract neoplasia NOT_TRANSLATED -HP:0007379 Genitourinary tract neoplasm NOT_TRANSLATED -HP:0007379 Genitourinary tract tumors NOT_TRANSLATED -HP:0007379 Genitourinary tract tumours NOT_TRANSLATED -HP:0007379 Neoplasm of the GU tract NOT_TRANSLATED -HP:0007380 Facial telangiectatic vessels NOT_TRANSLATED -HP:0007380 Telangiectasia, facial NOT_TRANSLATED -HP:0040149 Afro-textured scalp hair NOT_TRANSLATED -HP:0040149 Kinky scalp hair texture NOT_TRANSLATED -HP:0040149 Nappy scalp hair texture NOT_TRANSLATED -HP:0040149 Wooly scalp hair NOT_TRANSLATED -HP:0007383 Congenital localised absence of skin NOT_TRANSLATED -HP:0007383 Congenital localised skin absence NOT_TRANSLATED -HP:0007383 Congenital localized skin absence NOT_TRANSLATED -HP:0007385 Defect of scalp NOT_TRANSLATED -HP:0007385 Focal absence of scalp tissue NOT_TRANSLATED -HP:0007385 Scalp aplasia cutis congenita NOT_TRANSLATED -HP:0007385 Scalp defect NOT_TRANSLATED -HP:0007385 Solitary scalp defect NOT_TRANSLATED -HP:0040154 Hidradenitis suppurativa NOT_TRANSLATED -HP:0040154 Pyoderma fistulans significa NOT_TRANSLATED -HP:0040154 Smoker's boils NOT_TRANSLATED -HP:0040154 Verneuil's disease NOT_TRANSLATED -HP:0007387 Underdeveloped sweat glands NOT_TRANSLATED -HP:0040159 Abnormality of spacing of front teeth NOT_TRANSLATED -HP:0040159 Abnormality of spacing of incisors NOT_TRANSLATED -HP:0040160 Generalised osteoporosis NOT_TRANSLATED -HP:0040160 Generalised osteoporosis with pathologic fractures NOT_TRANSLATED -HP:0040160 Generalized osteoporosis with pathologic fractures NOT_TRANSLATED -HP:0040161 Localised osteoporosis NOT_TRANSLATED -HP:0007394 Prominent superficial vasculature NOT_TRANSLATED -HP:0007395 Postnatal-onset ichthyosis NOT_TRANSLATED -HP:0040163 Abnormal shape of pelvis bone NOT_TRANSLATED -HP:0007396 Sun sensitivity occurring early in life NOT_TRANSLATED -HP:0040164 Fatty tumors on the eyelids NOT_TRANSLATED -HP:0040164 Fatty tumours on the eyelids NOT_TRANSLATED -HP:0040165 Periostalgia NOT_TRANSLATED -HP:0040167 Facial verruca NOT_TRANSLATED -HP:0040167 Facial wart NOT_TRANSLATED -HP:0007403 Thick skin of soles NOT_TRANSLATED -HP:0040171 Decreased serum testosterone level NOT_TRANSLATED -HP:0040171 Decreased serum testosterone levels NOT_TRANSLATED -HP:0040171 Decreased testosterone NOT_TRANSLATED -HP:0040171 Low serum testosterone level NOT_TRANSLATED -HP:0040171 Low serum testosterone levels NOT_TRANSLATED -HP:0007404 Nonepidermolytic palmoplantar keratoderma NOT_TRANSLATED -HP:0040173 Abnormality of lingual muscle NOT_TRANSLATED -HP:0007406 Brown eyelids NOT_TRANSLATED -HP:0007406 Dark eyelids NOT_TRANSLATED -HP:0007406 Pigmentation of eyelids NOT_TRANSLATED -HP:0040174 Abnormality of extrinsic lingual muscle NOT_TRANSLATED -HP:0007407 Excessive skin wrinkling on back of hands and fingers NOT_TRANSLATED -HP:0040176 Abnormal level of phospholipids NOT_TRANSLATED -HP:0040177 Abnormal level of PAF NOT_TRANSLATED -HP:0007410 Excessive sweating of palms and soles NOT_TRANSLATED -HP:0007410 Hyperhidrosis of palms and soles NOT_TRANSLATED -HP:0040178 Increased level of PAF NOT_TRANSLATED -HP:0040179 Decreased level of PAF NOT_TRANSLATED -HP:0007413 Port-wine stain on forehead NOT_TRANSLATED -HP:0040181 Chapped lips NOT_TRANSLATED -HP:0040181 Cheilitis simplex NOT_TRANSLATED -HP:0040181 Common cheilitis NOT_TRANSLATED -HP:0040181 Dry lips NOT_TRANSLATED -HP:0040181 Perioral dermatitis NOT_TRANSLATED -HP:0007414 Wrinkled skin of hands and feet in newborn NOT_TRANSLATED -HP:0040183 Stool holding NOT_TRANSLATED -HP:0040183 Stool soiling NOT_TRANSLATED -HP:0040184 Oral haemorrhage NOT_TRANSLATED -HP:0040184 Oral hemorrhage NOT_TRANSLATED -HP:0007417 Discoid lupus erythematosus NOT_TRANSLATED -HP:0040185 Macrothrombozytopenia NOT_TRANSLATED -HP:0007418 Total alopecia NOT_TRANSLATED -HP:0007421 Telangiectasia on the cheeks NOT_TRANSLATED -HP:0040189 Desquamation NOT_TRANSLATED -HP:0040189 flaking skin NOT_TRANSLATED -HP:0040189 peeling skin NOT_TRANSLATED -HP:0040189 Scaly skin NOT_TRANSLATED -HP:0040190 White scaly skin NOT_TRANSLATED -HP:0040191 Atrophy of the rectus femoris muscles NOT_TRANSLATED -HP:0040192 amine precursor uptake and decarboxylation tumours NOT_TRANSLATED -HP:0007425 Hyperelastic face skin NOT_TRANSLATED -HP:0007425 Stretchable face skin NOT_TRANSLATED -HP:0007427 Reticular pigmentation pattern NOT_TRANSLATED -HP:0007427 Reticulate skin pigmentation NOT_TRANSLATED -HP:0007428 Angioectasia of the oral mucosa NOT_TRANSLATED -HP:0007428 Angioectasia of the oral mucous membrane NOT_TRANSLATED -HP:0007428 Spider veins of the oral mucosa NOT_TRANSLATED -HP:0007428 Telangiectasia of the oral mucous membrane NOT_TRANSLATED -HP:0040197 Cerebral softening NOT_TRANSLATED -HP:0007430 Generalised oedema NOT_TRANSLATED -HP:0007430 Generalised tissue oedema NOT_TRANSLATED -HP:0007430 Generalized tissue edema NOT_TRANSLATED -HP:0040198 Nonmedullary thyroid carcinoma NOT_TRANSLATED -HP:0040198 Thyroid cancer, nonmedullary NOT_TRANSLATED -HP:0007431 Congenital ichthyosis NOT_TRANSLATED -HP:0007431 Ichthyosis, congenital NOT_TRANSLATED -HP:0007432 Intermittent generalised erythematous papular rash NOT_TRANSLATED -HP:0040200 Negative chorea NOT_TRANSLATED -HP:0007434 Hemangioma, facial, plaque-like NOT_TRANSLATED -HP:0040202 Abnormal consumption behaviour NOT_TRANSLATED -HP:0040203 Abnormal CSF neopterin level NOT_TRANSLATED -HP:0007439 Generalised keratosis follicularis NOT_TRANSLATED -HP:0040207 Abnormal cerebrospinal fluid biopterin level NOT_TRANSLATED -HP:0040207 Abnormal CSF biopterin level NOT_TRANSLATED -HP:0007440 Generalised hyperpigmentation NOT_TRANSLATED -HP:0040209 Decreased cerebrospinal fluid biopterin level NOT_TRANSLATED -HP:0007443 Congenital partial albinism on face, trunk, or limbs NOT_TRANSLATED -HP:0007443 Congenital partial leucoderma NOT_TRANSLATED -HP:0007443 Partial absent skin pigmentation NOT_TRANSLATED -HP:0040212 Rictus grin NOT_TRANSLATED -HP:0040213 Shallow breathing NOT_TRANSLATED -HP:0040214 Abnormal insulin level NOT_TRANSLATED -HP:0007447 Diffuse palmoplantar keratoderma NOT_TRANSLATED -HP:0007447 Hyperkeratosis, diffuse palmoplantar NOT_TRANSLATED -HP:0040217 Elevated glycated haemoglobin NOT_TRANSLATED -HP:0040217 Elevated glycated hemoglobin NOT_TRANSLATED -HP:0040217 Elevated glycosylated haemoglobin NOT_TRANSLATED -HP:0040217 Elevated glycosylated hemoglobin NOT_TRANSLATED -HP:0040217 Elevated haemoglobin A1c NOT_TRANSLATED -HP:0040217 Elevated HbA1c NOT_TRANSLATED -HP:0040217 Increased HbA1c levels NOT_TRANSLATED -HP:0040218 Reduced natural killer cell number NOT_TRANSLATED -HP:0040218 Reduced NK cell number NOT_TRANSLATED -HP:0040219 Absent NK cells NOT_TRANSLATED -HP:0007452 Midfacial capillary hemangioma NOT_TRANSLATED -HP:0040223 Intrapulmonary haemorrhage NOT_TRANSLATED -HP:0040223 Intrapulmonary hemorrhage NOT_TRANSLATED -HP:0040223 Pulmonary haemorrhage NOT_TRANSLATED -HP:0040224 Abnormality of the fibrinolytic system NOT_TRANSLATED -HP:0040225 Decrease in HMW VWF multimers NOT_TRANSLATED -HP:0040226 Heparin co-factor II deficiency NOT_TRANSLATED -HP:0007459 Generalised anhidrosis NOT_TRANSLATED -HP:0007459 Generalised anhydrosis NOT_TRANSLATED -HP:0007459 Generalised inability to sweat NOT_TRANSLATED -HP:0007459 Generalized anhydrosis NOT_TRANSLATED -HP:0007459 Generalized inability to sweat NOT_TRANSLATED -HP:0040228 Hypoplasminogenemia NOT_TRANSLATED -HP:0040229 BDCA-3 NOT_TRANSLATED -HP:0007462 Bitot's spots NOT_TRANSLATED -HP:0040230 Decreased level of tPA NOT_TRANSLATED -HP:0040233 Reduced factor XIII, subunit A NOT_TRANSLATED -HP:0040234 Reduced factor XIII, subunit B NOT_TRANSLATED -HP:0040235 Dohle-like leukocyte inclusion bodies NOT_TRANSLATED -HP:0040235 Inclusion bodies in leukocytes NOT_TRANSLATED -HP:0007469 Cutis gyrata of palms and soles NOT_TRANSLATED -HP:0040237 von Willebrand Disease Type II Normandy NOT_TRANSLATED -HP:0040238 Neutrophil migratory defect NOT_TRANSLATED -HP:0040242 Muscle haemorrhage NOT_TRANSLATED -HP:0007475 Bullous congenital ichthyosiform erythroderma NOT_TRANSLATED -HP:0007475 Epidermolytic hyperkeratosis NOT_TRANSLATED -HP:0007477 Abnormal fingerprints NOT_TRANSLATED -HP:0007477 Dermatoglyphic abnormalities NOT_TRANSLATED -HP:0007479 Collodion baby NOT_TRANSLATED -HP:0007479 Congenital lamellar ichthyosis NOT_TRANSLATED -HP:0007479 Congenital non-bullous ichthyosis NOT_TRANSLATED -HP:0007479 Ichthyosis lammellaris NOT_TRANSLATED -HP:0007479 Ichthyosis, congenital, nonblistering NOT_TRANSLATED -HP:0007479 Nonbullous congenital ichthyosiform erythroderma NOT_TRANSLATED -HP:0007479 Nonbullous congenital ichthyosis NOT_TRANSLATED -HP:0007482 Generalised papillary lesions NOT_TRANSLATED -HP:0040251 Hand dimples NOT_TRANSLATED -HP:0007485 Absent fat below the skin NOT_TRANSLATED -HP:0007485 General absence of subcutaneous fat NOT_TRANSLATED -HP:0007485 Lack of fatty tissue below the skin NOT_TRANSLATED -HP:0040256 Adenoids small or absent NOT_TRANSLATED -HP:0007489 Diffuse telangiectases NOT_TRANSLATED -HP:0007489 Telangiectases, random body distribution NOT_TRANSLATED -HP:0040258 Underdeveloped nasopharyngeal adenoids NOT_TRANSLATED -HP:0040261 Adenoid hypertrophy NOT_TRANSLATED -HP:0040261 Adenoids large NOT_TRANSLATED -HP:0007495 Precociously senile appearance NOT_TRANSLATED -HP:0040263 Difficulty opening mouth NOT_TRANSLATED -HP:0007497 Hyperkeratosis, palmoplantar, focal friction-related NOT_TRANSLATED -HP:0007500 Decreased sweat glands NOT_TRANSLATED -HP:0007500 Decreased sweat pores NOT_TRANSLATED -HP:0040269 Obstruction of Eustachian tube NOT_TRANSLATED -HP:0007502 Hyperkeratosis follicularis NOT_TRANSLATED -HP:0040270 Decreased glucose tolerance NOT_TRANSLATED -HP:0040270 Glucose tolerance decreased NOT_TRANSLATED -HP:0007503 Generalised ichthyosis NOT_TRANSLATED -HP:0007506 Missing skin on limbs since birth NOT_TRANSLATED -HP:0007509 Patchy hypo- and hyper-pigmentation NOT_TRANSLATED -HP:0040280 Obligate (100%) NOT_TRANSLATED -HP:0007513 Fair skin NOT_TRANSLATED -HP:0007513 Generalised hypopigmentation NOT_TRANSLATED -HP:0007513 Pale pigmentation NOT_TRANSLATED -HP:0040281 Very frequent (99-80%) NOT_TRANSLATED -HP:0007514 Edema of dorsum of hands NOT_TRANSLATED -HP:0007514 Oedema of dorsum of hands NOT_TRANSLATED -HP:0007514 Oedema of the dorsum of hands NOT_TRANSLATED -HP:0040282 Frequent (79-30%) NOT_TRANSLATED -HP:0040283 Occasional (29-5%) NOT_TRANSLATED -HP:0007516 Extra skin on fingers NOT_TRANSLATED -HP:0040284 Very rare (lt;4-1%) NOT_TRANSLATED -HP:0040284 Very rare (<4-1%) NOT_TRANSLATED -HP:0007517 Excessive wrinkled skin of palms and soles NOT_TRANSLATED -HP:0007517 Furrowed palms and soles NOT_TRANSLATED -HP:0007517 Increased wrinkles of palms and soles NOT_TRANSLATED -HP:0007517 Wrinkled palms and soles NOT_TRANSLATED -HP:0007517 Wrinkled skin of hands and feet NOT_TRANSLATED -HP:0040285 Excluded (0%) NOT_TRANSLATED -HP:0040286 Abnormality of axial muscles NOT_TRANSLATED -HP:0040289 CyN NOT_TRANSLATED -HP:0040291 Steatosis of skeletal muscle NOT_TRANSLATED -HP:0040291 Steatosis of skeletal muscles NOT_TRANSLATED -HP:0040292 Hemiplegia (left) NOT_TRANSLATED -HP:0040293 Hemiplegia (right) NOT_TRANSLATED -HP:0007526 Hypopigmented upper extremeity skin patches NOT_TRANSLATED -HP:0007526 Patchy loss of skin color on arms NOT_TRANSLATED -HP:0007526 Patchy loss of skin colour on arms NOT_TRANSLATED -HP:0040294 Duplication of tongue NOT_TRANSLATED -HP:0040294 Tongue duplicated NOT_TRANSLATED -HP:0040294 Tongue duplication NOT_TRANSLATED -HP:0040295 Double upper lip NOT_TRANSLATED -HP:0040296 Abnormal location of eyebrows NOT_TRANSLATED -HP:0040296 Abnormally placed eyebrows NOT_TRANSLATED -HP:0040298 Hyperplastic endometrium NOT_TRANSLATED -HP:0040299 Low fatty acids level NOT_TRANSLATED -HP:0040300 Abnormal circulating free fatty acid level NOT_TRANSLATED -HP:0040302 Pseudohypertriglyceridemia NOT_TRANSLATED -HP:0040303 Low serum iron NOT_TRANSLATED -HP:0040304 Duplicate sella turcica NOT_TRANSLATED -HP:0040304 Duplicated sella turcica NOT_TRANSLATED -HP:0007537 Severe sun sensitivity NOT_TRANSLATED -HP:0040309 Large jaw NOT_TRANSLATED -HP:0007543 Increased thickness of skin epidermis NOT_TRANSLATED -HP:0040312 Arthritis of temporomandibular joint NOT_TRANSLATED -HP:0007545 Congenital palmoplantar keratoderma NOT_TRANSLATED -HP:0007545 Congenital palmoplantar keratodermia NOT_TRANSLATED -HP:0007545 Congenital palmoplantar keratosis NOT_TRANSLATED -HP:0040314 Blind-ended vagina NOT_TRANSLATED -HP:0040315 Tongue oedema NOT_TRANSLATED -HP:0007550 Lack of sweating or excessive sweating NOT_TRANSLATED -HP:0007552 Abnormal fat tissue distribution below the skin NOT_TRANSLATED -HP:0040320 red brown urine NOT_TRANSLATED -HP:0040323 Erythema of eyelid NOT_TRANSLATED -HP:0040323 Eyelid erythema NOT_TRANSLATED -HP:0007556 Plantar hyperkeratoses NOT_TRANSLATED -HP:0040324 Heliotrope erythema NOT_TRANSLATED -HP:0040326 Hypoplasia of olfactory bulb NOT_TRANSLATED -HP:0040326 Hypoplastic olfactory bulb NOT_TRANSLATED -HP:0007559 Localised epidermolytic hyperkeratosis NOT_TRANSLATED -HP:0007565 Multiple birthmarks NOT_TRANSLATED -HP:0007565 Multiple flat light-brown marks on skin NOT_TRANSLATED -HP:0007569 Generalised seborrheic dermatitis NOT_TRANSLATED -HP:0007569 Generalised seborrheic eczema NOT_TRANSLATED -HP:0007569 Generalized seborrheic eczema NOT_TRANSLATED -HP:0007570 Flegel disease NOT_TRANSLATED -HP:0007573 Late onset baby eczema NOT_TRANSLATED -HP:0007574 Bronze skin NOT_TRANSLATED -HP:0007574 Generalised bronze hyperpigmentation NOT_TRANSLATED -HP:0007588 Reticulate hyperpigmentation NOT_TRANSLATED -HP:0007592 Hypoplastic-absent eccrine sweat glands NOT_TRANSLATED -HP:0007595 Excess skin in infancy NOT_TRANSLATED -HP:0007596 Painful noncancerous fat tissue tumor under the skin NOT_TRANSLATED -HP:0007596 Painful noncancerous fat tissue tumour under the skin NOT_TRANSLATED -HP:0007599 Generalised reticulate brown pigmentation NOT_TRANSLATED -HP:0007605 Redundant, wrinkled skin of palms NOT_TRANSLATED -HP:0007609 Hypoproteinemic oedema NOT_TRANSLATED -HP:0007616 Angel's kiss NOT_TRANSLATED -HP:0007616 Port-wine stain on neck NOT_TRANSLATED -HP:0007616 Salmon patch NOT_TRANSLATED -HP:0007616 Stork bite NOT_TRANSLATED -HP:0007618 Skin calcification NOT_TRANSLATED -HP:0007620 Cutaneous leiomyomas NOT_TRANSLATED -HP:0007620 Cutaneous leiomyomata NOT_TRANSLATED -HP:0007623 Abnormal pigmentation in sun-exposed skin NOT_TRANSLATED -HP:0007626 Lower jaw bone infection NOT_TRANSLATED -HP:0007626 Osteomyelitis, especially of the mandible NOT_TRANSLATED -HP:0007627 Absence of the condylar head of mandible NOT_TRANSLATED -HP:0007627 Absence of the condylar neck of mandible NOT_TRANSLATED -HP:0007627 Absence of the condylar process of mandible NOT_TRANSLATED -HP:0007627 Agenesis of condylar head of mandible NOT_TRANSLATED -HP:0007627 Agenesis of condylar neck of mandible NOT_TRANSLATED -HP:0007627 Agenesis of condylar process of mandible NOT_TRANSLATED -HP:0007627 Failure of development of condylar head of mandible NOT_TRANSLATED -HP:0007627 Failure of development of condylar neck of mandible NOT_TRANSLATED -HP:0007627 Failure of development of the condylar process of mandible NOT_TRANSLATED -HP:0007627 Underdevelopment of condylar head of mandible NOT_TRANSLATED -HP:0007627 Underdevelopment of condylar neck of mandible NOT_TRANSLATED -HP:0007627 Underdevelopment of condylar process of mandible NOT_TRANSLATED -HP:0007628 Decreased size of condylar process of mandible NOT_TRANSLATED -HP:0007628 Decreased size of mandibular condyle NOT_TRANSLATED -HP:0007628 Hypoplasia of condylar head of mandible NOT_TRANSLATED -HP:0007628 Hypoplasia of condylar neck of mandible NOT_TRANSLATED -HP:0007628 Hypoplasia of condylar process of mandible NOT_TRANSLATED -HP:0007628 Hypoplasia of mandibular condyle NOT_TRANSLATED -HP:0007628 Hypoplasia of subcondylar region of mandible NOT_TRANSLATED -HP:0007628 Hypotrophic condylar process of mandible NOT_TRANSLATED -HP:0007628 Hypotrophic mandibular condyle NOT_TRANSLATED -HP:0007628 Small condylar head of mandible NOT_TRANSLATED -HP:0007628 Small condylar neck of mandible NOT_TRANSLATED -HP:0007628 Small mandibular condyle NOT_TRANSLATED -HP:0007633 Abnormally small eyeball on both sides NOT_TRANSLATED -HP:0007633 Bilateral nanophthalmos NOT_TRANSLATED -HP:0007633 Decreased size of eyeballs NOT_TRANSLATED -HP:0007633 Decreased size of globes of eyes NOT_TRANSLATED -HP:0007633 Microphthalmia, bilateral NOT_TRANSLATED -HP:0007634 Nonarteritic anterior ischaemic optic neuropathy NOT_TRANSLATED -HP:0007641 Color blindness NOT_TRANSLATED -HP:0007641 Colour blindness NOT_TRANSLATED -HP:0007642 Congenital night blindness NOT_TRANSLATED -HP:0007642 Night blindness since birth NOT_TRANSLATED -HP:0007642 Night blindness, congenital NOT_TRANSLATED -HP:0007642 Night blindness, congenital stationary NOT_TRANSLATED -HP:0007642 Night blindness, congenital stationary, complete NOT_TRANSLATED -HP:0007642 Night blindness, stationary NOT_TRANSLATED -HP:0007642 Static congenital hemeralopia NOT_TRANSLATED -HP:0007643 Peripheral traction retinal detachment NOT_TRANSLATED -HP:0007643 Tractional retinal detachment at the periphery of the retina NOT_TRANSLATED -HP:0007646 Agenesis of lower eyelashes NOT_TRANSLATED -HP:0007646 Aplasia of lower eyelashes NOT_TRANSLATED -HP:0007646 Atrichia of lower eyelashes NOT_TRANSLATED -HP:0007646 Failure of development of lower eyelashes NOT_TRANSLATED -HP:0007648 Punctate lenticular opacities NOT_TRANSLATED -HP:0007651 Everted lower eyelids NOT_TRANSLATED -HP:0007651 Lower eyelid folded out NOT_TRANSLATED -HP:0007651 Lower eyelid turned out NOT_TRANSLATED -HP:0007656 Absent tear gland NOT_TRANSLATED -HP:0007663 Decreased central vision NOT_TRANSLATED -HP:0007663 Decreased clarity of vision NOT_TRANSLATED -HP:0007663 Decreased visual acuity NOT_TRANSLATED -HP:0007663 Poor visual acuity NOT_TRANSLATED -HP:0007667 Cystic retinal degeneration NOT_TRANSLATED -HP:0007667 Peripheral cystoid degeneration NOT_TRANSLATED -HP:0007670 Abnormal vestibuloocular reflex NOT_TRANSLATED -HP:0007676 Hypoplastic iris NOT_TRANSLATED -HP:0007676 Iris hypoplasia NOT_TRANSLATED -HP:0007676 Underdeveloped iris NOT_TRANSLATED -HP:0007677 Vitelliform macular dystrophy NOT_TRANSLATED -HP:0007677 Vitelliform macular lesions NOT_TRANSLATED -HP:0007678 Narrowing of the tear duct NOT_TRANSLATED -HP:0007678 Nasolacrimal duct stenosis NOT_TRANSLATED -HP:0007687 Dropping of one upper eyelid NOT_TRANSLATED -HP:0007688 Absent cone and rod functions by electroretinogram NOT_TRANSLATED -HP:0007688 Absent rod-and cone-mediated responses on ERG NOT_TRANSLATED -HP:0007697 Decreased size of lower eyelid NOT_TRANSLATED -HP:0007697 Hypotrophic lower eyelid NOT_TRANSLATED -HP:0007697 Short lower eyelid NOT_TRANSLATED -HP:0007697 Small lower eyelid NOT_TRANSLATED -HP:0007697 Underdevelopment of lower eyelid NOT_TRANSLATED -HP:0007700 Anterior chamber cleavage defect NOT_TRANSLATED -HP:0007700 Anterior chamber cleavage disorder NOT_TRANSLATED -HP:0007700 Anterior chamber malformation NOT_TRANSLATED -HP:0007700 Anterior chamber mesodermal anomalies NOT_TRANSLATED -HP:0007700 Anterior segment developmental abnormality NOT_TRANSLATED -HP:0007700 Anterior segment dysgenesis NOT_TRANSLATED -HP:0007700 Anterior segment mesencyhmal dysgenesis NOT_TRANSLATED -HP:0007700 Anterior segment ocular dysgenesis NOT_TRANSLATED -HP:0007703 Abnormal retinal pigmentation NOT_TRANSLATED -HP:0007703 Abnormality of retinal pigment epithelium NOT_TRANSLATED -HP:0007703 Abnormality of RPE NOT_TRANSLATED -HP:0007703 Abnormality of the retinal pigment epithelium NOT_TRANSLATED -HP:0007703 Retinal pigmentary anomaly NOT_TRANSLATED -HP:0007704 Abnormal eye movements, paroxysmal NOT_TRANSLATED -HP:0007707 Lens agenesis NOT_TRANSLATED -HP:0007716 Intraocular melanoma NOT_TRANSLATED -HP:0007720 Cornea plana NOT_TRANSLATED -HP:0007721 Saccular conjunctival aneurysms NOT_TRANSLATED -HP:0007727 Superficial corneal opacities NOT_TRANSLATED -HP:0007730 Light eye color NOT_TRANSLATED -HP:0007730 Light eye colour NOT_TRANSLATED -HP:0007730 Reduced iris pigmentation NOT_TRANSLATED -HP:0007732 Hypoplastic lacrimal gland NOT_TRANSLATED -HP:0007732 Underdeveloped tear gland NOT_TRANSLATED -HP:0007734 Enlarged tear gland NOT_TRANSLATED -HP:0007737 Bone corpuscle fundus pigmentation NOT_TRANSLATED -HP:0007737 Fundus with peripheral bony spicules NOT_TRANSLATED -HP:0007737 Retinal 'bone corpuscle' pigmentation NOT_TRANSLATED -HP:0007737 Retinal bone corpuscle pigmentation NOT_TRANSLATED -HP:0007737 Retinal pigmented bone spicules NOT_TRANSLATED -HP:0007750 Foveal hypoplasia NOT_TRANSLATED -HP:0007759 Cloudy cornea NOT_TRANSLATED -HP:0007759 Cloudy corneas NOT_TRANSLATED -HP:0007759 Corneal stromal opacity NOT_TRANSLATED -HP:0007766 Hypoplastic optic discs NOT_TRANSLATED -HP:0007766 Hypoplastic optic disks NOT_TRANSLATED -HP:0007768 Tortuosity of main retinal vessels NOT_TRANSLATED -HP:0007770 Retinal hypoplasia NOT_TRANSLATED -HP:0007770 Underdeveloped retina NOT_TRANSLATED -HP:0007772 Abnormal visual pursuit NOT_TRANSLATED -HP:0007772 Abnormality of visual tracking NOT_TRANSLATED -HP:0007772 Impairment of visual pursuit NOT_TRANSLATED -HP:0007773 Vitreoretinal abnormality NOT_TRANSLATED -HP:0007773 Vitreoretinal degeneration NOT_TRANSLATED -HP:0007776 Hypotrichosis of lower eyelashes NOT_TRANSLATED -HP:0007776 Partial absence of lower eyelashes NOT_TRANSLATED -HP:0007776 Scanty lower eyelashes NOT_TRANSLATED -HP:0007776 Thin lower eyelashes NOT_TRANSLATED -HP:0007778 Neovascularization of peripheral and posterior retina NOT_TRANSLATED -HP:0007778 Posterior retinal neovascularisation NOT_TRANSLATED -HP:0007780 Cataracts, cortical pulverulent NOT_TRANSLATED -HP:0007787 Posterior subcapsular cataracts NOT_TRANSLATED -HP:0007787 Posterior subcapsular opacities of the lens NOT_TRANSLATED -HP:0007793 Macular retinal pigment epithelial mottling NOT_TRANSLATED -HP:0007800 Globe elongated NOT_TRANSLATED -HP:0007800 Increased axial globe length NOT_TRANSLATED -HP:0007800 Increased front to back length of eyeball NOT_TRANSLATED -HP:0007803 Complete achromatopsia NOT_TRANSLATED -HP:0007803 Total colorblindness NOT_TRANSLATED -HP:0007812 Dendritic corneal epithelial ulcer NOT_TRANSLATED -HP:0007812 Herpetiform corneal ulcers NOT_TRANSLATED -HP:0007814 Focal hypopigmentation of the retinal pigment epithelium NOT_TRANSLATED -HP:0007814 Retinal pigment epithelium irregularity NOT_TRANSLATED -HP:0007814 RPE irregularity NOT_TRANSLATED -HP:0007814 RPE mottling NOT_TRANSLATED -HP:0007814 Salt and pepper retinal pigmentation NOT_TRANSLATED -HP:0007814 Salt and pepper retinopathy NOT_TRANSLATED -HP:0007818 Ring iris heterochromia NOT_TRANSLATED -HP:0007819 Presenile cataract NOT_TRANSLATED -HP:0007820 Atretic lacrimal puncta NOT_TRANSLATED -HP:0007820 Atretic lacrimal punctum NOT_TRANSLATED -HP:0007824 Complete ophthalmoplegia NOT_TRANSLATED -HP:0007824 Global paralysis of gaze NOT_TRANSLATED -HP:0007824 Total internal and external ophthalmoplegia NOT_TRANSLATED -HP:0007832 Pigmentation of the outer white part of the eyeball NOT_TRANSLATED -HP:0007834 Cataract, progressive NOT_TRANSLATED -HP:0007835 S-shaped eyes NOT_TRANSLATED -HP:0007835 S-shaped opening between the eyelids NOT_TRANSLATED -HP:0007838 Progressive drooping of upper eyelid NOT_TRANSLATED -HP:0007840 Ciliary trichomegaly of upper eyelashes NOT_TRANSLATED -HP:0007840 Increased length of upper eyelashes NOT_TRANSLATED -HP:0007841 Amyloid deposition in the vitreous humour NOT_TRANSLATED -HP:0007841 Vitreous amyloid deposits NOT_TRANSLATED -HP:0007843 Narrowing of blood vessels in back of eye NOT_TRANSLATED -HP:0007856 Punctate corneal opacities NOT_TRANSLATED -HP:0007858 Lacunar retinal depigmentation NOT_TRANSLATED -HP:0007859 Nystagmus, congenital horizontal NOT_TRANSLATED -HP:0007873 Prominent Schwalbe lines NOT_TRANSLATED -HP:0007874 Almond shaped eyes NOT_TRANSLATED -HP:0007874 Almond-shaped opening between the eyelids NOT_TRANSLATED -HP:0007875 Blindness present at birth NOT_TRANSLATED -HP:0007875 Congenital amaurosis NOT_TRANSLATED -HP:0007886 Absent ocular muscles NOT_TRANSLATED -HP:0007886 Missing eye muscles NOT_TRANSLATED -HP:0007889 Cataracts, posterior, subcapsular, iridescent NOT_TRANSLATED -HP:0007892 Hypoplasia of the lacrimal puncta NOT_TRANSLATED -HP:0007892 Hypoplastic lacrimal puncta NOT_TRANSLATED -HP:0007894 Decreased fundus pigmentation NOT_TRANSLATED -HP:0007894 Fundus hypopigmentation NOT_TRANSLATED -HP:0007899 Congenital retinal non-attachment NOT_TRANSLATED -HP:0007900 Underdeveloped tear duct NOT_TRANSLATED -HP:0007902 Vitreous haemorrhage NOT_TRANSLATED -HP:0007905 Abnormality of iris blood vessels NOT_TRANSLATED -HP:0007906 Elevated intraocular pressure NOT_TRANSLATED -HP:0007906 Elevated IOP NOT_TRANSLATED -HP:0007906 High eye pressure NOT_TRANSLATED -HP:0007906 Increased intraocular pressure NOT_TRANSLATED -HP:0007906 Increased IOP NOT_TRANSLATED -HP:0007906 Raised intraocular pressure NOT_TRANSLATED -HP:0007906 Raised IOP NOT_TRANSLATED -HP:0007911 Congenital drooping of both upper eyelids NOT_TRANSLATED -HP:0007911 Ptosis, bilateral congenital NOT_TRANSLATED -HP:0007911 Ptosis, congenital bilateral NOT_TRANSLATED -HP:0007922 Hypermyelinated retinal nerve fibres NOT_TRANSLATED -HP:0007922 Retinal striation NOT_TRANSLATED -HP:0007924 Decreased visual acuity, slowly progressive NOT_TRANSLATED -HP:0007924 Slow decrease in sharpness of vision NOT_TRANSLATED -HP:0007924 Subacute deterioration of visual acuity NOT_TRANSLATED -HP:0007925 Absent tear duct NOT_TRANSLATED -HP:0007933 Wide lateral eyebrow NOT_TRANSLATED -HP:0007936 Restrictive external ophthalmoplegia, bilateral NOT_TRANSLATED -HP:0007936 Restrictive ophthalmoplegia NOT_TRANSLATED -HP:0007937 Fishnet retinal pigmentation NOT_TRANSLATED -HP:0007937 Honeycomb retinal degeneration NOT_TRANSLATED -HP:0007939 Blue cone monochromatism NOT_TRANSLATED -HP:0007939 Incomplete achromatopsia NOT_TRANSLATED -HP:0007939 S-cone monochromacy NOT_TRANSLATED -HP:0007941 Limited extraocular movement NOT_TRANSLATED -HP:0007946 Narrow palpebral fissure, unilateral NOT_TRANSLATED -HP:0007946 Unequal size of opening between the eyelids NOT_TRANSLATED -HP:0007957 Corneal clouding NOT_TRANSLATED -HP:0007957 Corneal opacities NOT_TRANSLATED -HP:0007957 Reduction of corneal clarity NOT_TRANSLATED -HP:0007957 Scarring or clouding of the cornea of the eye NOT_TRANSLATED -HP:0007965 Absence of visual evoked potentials NOT_TRANSLATED -HP:0007965 Non-detectable VEP NOT_TRANSLATED -HP:0007965 Undetectable VEP NOT_TRANSLATED -HP:0007968 Congenital retinal septum NOT_TRANSLATED -HP:0007968 Persistent fetal vasculature NOT_TRANSLATED -HP:0007968 Persistent foetal vasculature NOT_TRANSLATED -HP:0007968 Persistent hyperplasia of primary vitreous NOT_TRANSLATED -HP:0007968 Persistent hyperplastic primary vitreous NOT_TRANSLATED -HP:0007968 Persistent hypertrophic primary vitreous NOT_TRANSLATED -HP:0007968 Persistent posterior fetal fibrovascular sheath of the lens NOT_TRANSLATED -HP:0007968 Persistent posterior foetal fibrovascular sheath of the lens NOT_TRANSLATED -HP:0007968 Persistent tunica vasculosa lentis NOT_TRANSLATED -HP:0007970 Congenital drooping upper eyelid NOT_TRANSLATED -HP:0007973 Retinal dysgenesis NOT_TRANSLATED -HP:0007976 Cataracts, congenital, cerulean NOT_TRANSLATED -HP:0007979 Nystagmus, horizontal gaze-evoked NOT_TRANSLATED -HP:0007979 Nystagmus, horizontal, gaze-evoked NOT_TRANSLATED -HP:0007984 Electronegative ERG NOT_TRANSLATED -HP:0007984 Electroretinogram: reduced b-wave amplitude NOT_TRANSLATED -HP:0007984 Reduced amplitude of dark-adapted bright flash electroretinogram b-wave NOT_TRANSLATED -HP:0007984 Reduced electroretinogram rod b-wave NOT_TRANSLATED -HP:0007984 Reduced ERG amplitude of b-wave NOT_TRANSLATED -HP:0007985 Blocked retinal artery NOT_TRANSLATED -HP:0007990 Hypoplastic iris stoma NOT_TRANSLATED -HP:0007990 Iris stromal hypoplasia NOT_TRANSLATED -HP:0007990 Underdeveloped iris stroma NOT_TRANSLATED -HP:0007993 Malformed tear ducts NOT_TRANSLATED -HP:0007994 Kalnienk vision NOT_TRANSLATED -HP:0007994 Loss of peripheral vision NOT_TRANSLATED -HP:0007994 Tunnel vision NOT_TRANSLATED -HP:0008000 Decreased blink reflex NOT_TRANSLATED -HP:0008000 Reduced corneal reflex NOT_TRANSLATED -HP:0008002 Macular pigmentary changes NOT_TRANSLATED -HP:0008003 Jerky smooth pursuit NOT_TRANSLATED -HP:0008009 Triple row of eyelashes NOT_TRANSLATED -HP:0008011 Peripheral corneal opacity NOT_TRANSLATED -HP:0008019 Superior subluxated lens NOT_TRANSLATED -HP:0008020 Progressive cone degeneration NOT_TRANSLATED -HP:0008020 Progressive cone dystrophy NOT_TRANSLATED -HP:0008028 Cystic macular degeneration NOT_TRANSLATED -HP:0008031 Posterior Y-sutural cataracts NOT_TRANSLATED -HP:0008035 Central retinitis pigmentosa NOT_TRANSLATED -HP:0008038 Absent/underdeveloped lacrimal glands NOT_TRANSLATED -HP:0008038 Absent/underdeveloped tear glands NOT_TRANSLATED -HP:0008043 Constricted retinal arterioles NOT_TRANSLATED -HP:0008043 Narrow retinal arterioles NOT_TRANSLATED -HP:0008043 Retinal arteriolar narrowing NOT_TRANSLATED -HP:0008045 High flash visual evoked potentials NOT_TRANSLATED -HP:0008046 Abnormality of retina blood vessels NOT_TRANSLATED -HP:0008046 Abnormality of the retinal vasculature NOT_TRANSLATED -HP:0008047 Abnormality of eye blood vessels NOT_TRANSLATED -HP:0008048 Abnormality of the line of Schwalbe NOT_TRANSLATED -HP:0008050 Abnormality of the opening between the eyelids NOT_TRANSLATED -HP:0008050 Deformity of the palpebral fissures NOT_TRANSLATED -HP:0008050 Malformation of the palpebral fissures NOT_TRANSLATED -HP:0008052 Retinal folds NOT_TRANSLATED -HP:0008053 Absent/small iris NOT_TRANSLATED -HP:0008053 Absent/underdeveloped iris NOT_TRANSLATED -HP:0008054 Abnormal morphology of the conjunctiva vasculature NOT_TRANSLATED -HP:0008054 Abnormal vasculature of the conjunctiva morphology NOT_TRANSLATED -HP:0008054 Abnormality of the vasculature of the conjunctiva NOT_TRANSLATED -HP:0008055 Absent/underdeveloped uvea NOT_TRANSLATED -HP:0008056 Absent/small eye NOT_TRANSLATED -HP:0008056 Absent/underdeveloped eye NOT_TRANSLATED -HP:0008057 Absent/small fundus NOT_TRANSLATED -HP:0008058 Absent/small optic nerve NOT_TRANSLATED -HP:0008058 Absent/underdeveloped optic nerve NOT_TRANSLATED -HP:0008059 Absent/underdeveloped macula NOT_TRANSLATED -HP:0008060 Absent/underdeveloped fovea NOT_TRANSLATED -HP:0008061 Absent/small retina NOT_TRANSLATED -HP:0008061 Absent/underdeveloped retina NOT_TRANSLATED -HP:0008063 Absent/small lens NOT_TRANSLATED -HP:0008063 Absent/underdeveloped lens NOT_TRANSLATED -HP:0008064 Hypertrophic ichthyosis NOT_TRANSLATED -HP:0008064 Ichthyosiform abnormality of the skin NOT_TRANSLATED -HP:0008064 Ichthyotic skin NOT_TRANSLATED -HP:0008065 Absent/small skin NOT_TRANSLATED -HP:0008065 Absent/underdeveloped skin NOT_TRANSLATED -HP:0008066 Blister NOT_TRANSLATED -HP:0008066 Blistering, generalised NOT_TRANSLATED -HP:0008066 Blistering, generalized NOT_TRANSLATED -HP:0008066 Blisters NOT_TRANSLATED -HP:0008066 Skin blisters NOT_TRANSLATED -HP:0008066 Skin bullae NOT_TRANSLATED -HP:0008067 Abnormally loose or hyperelastic skin NOT_TRANSLATED -HP:0008067 Abnormally loose or stretchable skin NOT_TRANSLATED -HP:0008069 Dermatological tumors NOT_TRANSLATED -HP:0008069 Dermatological tumours NOT_TRANSLATED -HP:0008069 Neoplasia of the skin NOT_TRANSLATED -HP:0008069 Skin cancer NOT_TRANSLATED -HP:0008069 Skin cancer (non-melanoma) NOT_TRANSLATED -HP:0008069 Skin tumors NOT_TRANSLATED -HP:0008069 Skin tumours NOT_TRANSLATED -HP:0008069 Tumor of the skin NOT_TRANSLATED -HP:0008069 Tumour of the skin NOT_TRANSLATED -HP:0008070 Decreased hair growth NOT_TRANSLATED -HP:0008070 Decreased hair growth on body NOT_TRANSLATED -HP:0008070 Hypotrichosis NOT_TRANSLATED -HP:0008070 Marked hypotrichosis NOT_TRANSLATED -HP:0008070 Sparse hair since birth NOT_TRANSLATED -HP:0008070 Thin, sparse hair NOT_TRANSLATED -HP:0008073 Low maternal serum estriol NOT_TRANSLATED -HP:0008079 Absent 5th long bone of foot NOT_TRANSLATED -HP:0008079 Absent 5th metatarsals NOT_TRANSLATED -HP:0008079 Aplasia of the fifth metatarsal bone NOT_TRANSLATED -HP:0008080 Medially deviated halluces NOT_TRANSLATED -HP:0008081 Valgus foot deformity NOT_TRANSLATED -HP:0008083 Underdeveloped 2nd-5th middle toe bones NOT_TRANSLATED -HP:0008089 Abnormality of the 5th long bone of foot NOT_TRANSLATED -HP:0008093 Short fourth toe NOT_TRANSLATED -HP:0008095 Osteolysis of tali NOT_TRANSLATED -HP:0008103 Delayed ankle bone maturation NOT_TRANSLATED -HP:0008103 Tarsal delayed ossification NOT_TRANSLATED -HP:0008108 Accelerated ankle bone maturation NOT_TRANSLATED -HP:0008108 Precociously ossified tarsal bones NOT_TRANSLATED -HP:0008111 Broad distal big toe NOT_TRANSLATED -HP:0008115 3rd toe clinodactyly NOT_TRANSLATED -HP:0008115 Curvature of 3rd toe NOT_TRANSLATED -HP:0008119 Deformed ankle bones NOT_TRANSLATED -HP:0008127 Delayed coalescence of bipartite calcanei NOT_TRANSLATED -HP:0008127 Delayed coalescence of calcaneal ossification centers NOT_TRANSLATED -HP:0008127 Delayed coalescence of calcaneal ossification centres NOT_TRANSLATED -HP:0008127 Delayed fusion of bipartite calcanei NOT_TRANSLATED -HP:0008127 Double calcaneal ossification center NOT_TRANSLATED -HP:0008127 Double calcaneal ossification centre NOT_TRANSLATED -HP:0008127 Extra calcaneal ossification center NOT_TRANSLATED -HP:0008127 Extra calcaneal ossification centre NOT_TRANSLATED -HP:0008131 Punctate calcifications of tarsals NOT_TRANSLATED -HP:0008131 Punctate tarsal calcification NOT_TRANSLATED -HP:0008134 Irregular ankle bone maturation NOT_TRANSLATED -HP:0008134 Irregular tarsal centers NOT_TRANSLATED -HP:0008134 Irregular tarsal centres NOT_TRANSLATED -HP:0008138 Equinus deformity of the calcaneus NOT_TRANSLATED -HP:0008138 Hindfoot equinus NOT_TRANSLATED -HP:0008142 Delayed heel bone maturation NOT_TRANSLATED -HP:0008151 Increased INR NOT_TRANSLATED -HP:0008151 Increased international normalised ratio NOT_TRANSLATED -HP:0008151 increased international normalised ratio NOT_TRANSLATED -HP:0008151 Increased international normalized ratio NOT_TRANSLATED -HP:0008151 Low factor II activity NOT_TRANSLATED -HP:0008151 Prolonged PT NOT_TRANSLATED -HP:0008151 Reduced factor II activity NOT_TRANSLATED -HP:0008151 Reduced prothrombin activity NOT_TRANSLATED -HP:0008153 Hypokalemic periodic paresis NOT_TRANSLATED -HP:0008161 Absent leukocyte ALP NOT_TRANSLATED -HP:0008162 Hyperammonemia, asymptomatic NOT_TRANSLATED -HP:0008163 Decreased cortisol production NOT_TRANSLATED -HP:0008163 Glucocorticoid insufficiency NOT_TRANSLATED -HP:0008163 Hypocortisolemia NOT_TRANSLATED -HP:0008163 Hypocortisolism NOT_TRANSLATED -HP:0008163 Low blood cortisol level NOT_TRANSLATED -HP:0008163 Low to undetectable plasma cortisol NOT_TRANSLATED -HP:0008163 Plasma cortisol low NOT_TRANSLATED -HP:0008165 Decreased proportion circulating T-helper cells NOT_TRANSLATED -HP:0008165 Reduced helper T cell proportion NOT_TRANSLATED -HP:0008166 Beta-galactosidase deficiency in fibroblasts and white blood cells NOT_TRANSLATED -HP:0008166 Beta-galactosidase-1 deficiency NOT_TRANSLATED -HP:0008166 Decreased beta galactosidase activity NOT_TRANSLATED -HP:0008169 Factor VII deficiency NOT_TRANSLATED -HP:0008179 Decreased Arden ratio of EOG NOT_TRANSLATED -HP:0008180 Mildly elevated CPK NOT_TRANSLATED -HP:0008180 Mildly elevated creatine phosphokinase NOT_TRANSLATED -HP:0008180 Mildly elevated serum CK NOT_TRANSLATED -HP:0008180 Mildly elevated serum CPK NOT_TRANSLATED -HP:0008180 Mildly elevated serum phospho-CK NOT_TRANSLATED -HP:0008180 Mildly increased creatine kinase NOT_TRANSLATED -HP:0008180 Mildly increased serum creatine kinase NOT_TRANSLATED -HP:0008180 Moderately elevated serum CK NOT_TRANSLATED -HP:0008180 Moderately elevated serum CPK NOT_TRANSLATED -HP:0008180 Moderately increased serum creatine kinase NOT_TRANSLATED -HP:0008182 Small adrenal cortex NOT_TRANSLATED -HP:0008185 Early onset of puberty in males NOT_TRANSLATED -HP:0008185 Male precocious puberty NOT_TRANSLATED -HP:0008187 No secondary sexual characteristics at puberty NOT_TRANSLATED -HP:0008188 Thyroid dysplasia NOT_TRANSLATED -HP:0008191 Athyroidal hypothyroidism NOT_TRANSLATED -HP:0008198 Neonatal hypoparathyroidism NOT_TRANSLATED -HP:0008202 Prolactin deficiency NOT_TRANSLATED -HP:0008204 Precocious puberty with Sertoli cell tumour NOT_TRANSLATED -HP:0008207 Addison disease NOT_TRANSLATED -HP:0008207 Addison's disease NOT_TRANSLATED -HP:0008207 Adrenocortical insufficiency NOT_TRANSLATED -HP:0008207 Primary adrenocortical failure NOT_TRANSLATED -HP:0008208 Enlarged parathyroid glands NOT_TRANSLATED -HP:0008209 Climacterium praecox NOT_TRANSLATED -HP:0008209 Early menopause NOT_TRANSLATED -HP:0008209 Hypergonadotropic amenorrhea NOT_TRANSLATED -HP:0008209 Menopause praecox NOT_TRANSLATED -HP:0008209 Premature menopause NOT_TRANSLATED -HP:0008209 Premature ovarian failure NOT_TRANSLATED -HP:0008209 Primary ovarian insufficiency NOT_TRANSLATED -HP:0008211 Parathyroid absence NOT_TRANSLATED -HP:0008211 Parathyroid aplasia NOT_TRANSLATED -HP:0008213 Pituitary gonadotropin deficiency NOT_TRANSLATED -HP:0008216 Adrenal gland dysplasia NOT_TRANSLATED -HP:0008216 Dysplastic adrenal glands NOT_TRANSLATED -HP:0008221 Enlarged adrenal glands NOT_TRANSLATED -HP:0008223 Mild hypothyroidism NOT_TRANSLATED -HP:0008223 Subclinical hypothyroidism NOT_TRANSLATED -HP:0008226 Hypoandrogenism NOT_TRANSLATED -HP:0008229 Thyroid lymphangiectasis NOT_TRANSLATED -HP:0008232 Elevated follicle stimulating hormone NOT_TRANSLATED -HP:0008232 Elevated follicle-stimulating hormone NOT_TRANSLATED -HP:0008232 Elevated FSH level NOT_TRANSLATED -HP:0008232 Elevated plasma follicle stimulating hormone NOT_TRANSLATED -HP:0008232 Increased circulating follicle stimulating hormone level NOT_TRANSLATED -HP:0008233 Decreased serum progesterone NOT_TRANSLATED -HP:0008237 Tertiary hypothyroidism NOT_TRANSLATED -HP:0008239 Small adrenal medulla NOT_TRANSLATED -HP:0008244 Congenital adrenal gland hypoplasia NOT_TRANSLATED -HP:0008245 Low thyroid gland function due to abnormal pituitary gland NOT_TRANSLATED -HP:0008245 Secondary hypothyroidism NOT_TRANSLATED -HP:0008245 Thyroid stimulating hormone deficiency NOT_TRANSLATED -HP:0008245 Thyrotropin deficiency NOT_TRANSLATED -HP:0008245 TSH deficient hypothyroidism NOT_TRANSLATED -HP:0008247 Asymptomatic hyperthyroxinemia NOT_TRANSLATED -HP:0008249 Large thyroid NOT_TRANSLATED -HP:0008251 Congenital goitre NOT_TRANSLATED -HP:0008256 Adrenocortical adenomas NOT_TRANSLATED -HP:0008259 ACTH receptor defect NOT_TRANSLATED -HP:0008259 ACTHR defect NOT_TRANSLATED -HP:0008259 Adrenocorticotropic hormone-resistant adrenal insufficiency NOT_TRANSLATED -HP:0008271 Abnormal hyaline collagen NOT_TRANSLATED -HP:0008271 Abnormal type II collagen NOT_TRANSLATED -HP:0008275 Abnormal cone-mediated electroretinogram NOT_TRANSLATED -HP:0008277 Abnormal zinc metabolism NOT_TRANSLATED -HP:0008277 Abnormality of zinc homeostasis NOT_TRANSLATED -HP:0008278 Cerebellar cortex degeneration NOT_TRANSLATED -HP:0041047 Obstruction of bladder outlet NOT_TRANSLATED -HP:0008281 Hyperammonemia, acute NOT_TRANSLATED -HP:0041049 Amylose-amylopectin intolerance NOT_TRANSLATED -HP:0041050 Renal tubule cyst NOT_TRANSLATED -HP:0008283 High blood insulin levels while fasting NOT_TRANSLATED -HP:0041051 Absent sense of taste NOT_TRANSLATED -HP:0041051 Impaired taste sensation NOT_TRANSLATED -HP:0041051 Lost taste NOT_TRANSLATED -HP:0041055 bone humerus NOT_TRANSLATED -HP:0041055 Broken humerus NOT_TRANSLATED -HP:0041055 Fracture of the humerus NOT_TRANSLATED -HP:0041055 Humeral fracture NOT_TRANSLATED -HP:0041055 Humerus fracture NOT_TRANSLATED -HP:0041057 Transient decreased IgG4 in blood NOT_TRANSLATED -HP:0041058 Chronic decreased IgG4 in blood NOT_TRANSLATED -HP:0008291 ACTH-producing pituitary adenoma NOT_TRANSLATED -HP:0008291 Corticotropin-secreting pituitary adenoma NOT_TRANSLATED -HP:0041059 Chronic (near) absent IgG4 in blood NOT_TRANSLATED -HP:0041060 Chronic partially decreased IgG4 in blood NOT_TRANSLATED -HP:0041061 bone calcaneus NOT_TRANSLATED -HP:0041062 Transient decreased IgG2 in blood NOT_TRANSLATED -HP:0041063 Chronic decreased IgG2 in blood NOT_TRANSLATED -HP:0041064 bone knee NOT_TRANSLATED -HP:0041065 Chronic (near) absent IgG2 in blood NOT_TRANSLATED -HP:0041066 Chronic partially decreased IgG2 in blood NOT_TRANSLATED -HP:0041067 Transient decreased IgG1 in blood NOT_TRANSLATED -HP:0041068 Chronic decreased IgG1 in blood NOT_TRANSLATED -HP:0008301 Dermatan sulphate excretion in urine NOT_TRANSLATED -HP:0041069 Chronic (near) absent IgG1 in blood NOT_TRANSLATED -HP:0041070 Chronic partially decreased IgG1 in blood NOT_TRANSLATED -HP:0041071 Transient decreased IgG3 in blood NOT_TRANSLATED -HP:0041072 Chronic decreased IgG3 in blood NOT_TRANSLATED -HP:0008305 Exercise-induced myoglobinuria in adults NOT_TRANSLATED -HP:0041073 bone thoracic vertebra NOT_TRANSLATED -HP:0041074 Chronic (near) absent IgG3 in blood NOT_TRANSLATED -HP:0041075 Chronic partially decreased IgG3 in blood NOT_TRANSLATED -HP:0041079 Decreased adipose tissue percentage NOT_TRANSLATED -HP:0041081 Fracture of the lower leg NOT_TRANSLATED -HP:0041081 Lower extremity fracture NOT_TRANSLATED -HP:0041081 Lower limb fracture NOT_TRANSLATED -HP:0008314 Respiratory complex II deficiency NOT_TRANSLATED -HP:0041083 bone phalanx NOT_TRANSLATED -HP:0008316 Abnormal mitochondria in muscle NOT_TRANSLATED -HP:0041084 Compression fractured thoracic vertebra NOT_TRANSLATED -HP:0041084 Wedge fractured thoracic vertebra NOT_TRANSLATED -HP:0041085 Compression fractured vertebra NOT_TRANSLATED -HP:0041085 Wedge fractured vertebra NOT_TRANSLATED -HP:0008318 Elevated leukocyte ALP NOT_TRANSLATED -HP:0041086 Compression fractured cervical vertebra NOT_TRANSLATED -HP:0041086 Wedge fractured cervical vertebra NOT_TRANSLATED -HP:0041087 Compression fractured lumbar vertebra NOT_TRANSLATED -HP:0041087 Wedge fractured lumbar vertebra NOT_TRANSLATED -HP:0008321 Decreased factor x activity NOT_TRANSLATED -HP:0008321 Factor X deficiency NOT_TRANSLATED -HP:0008322 Abnormal mitochondrion morphology NOT_TRANSLATED -HP:0008323 Abnormal rod and cone electroretinogram NOT_TRANSLATED -HP:0041092 Highly sensitive NOT_TRANSLATED -HP:0041092 Hypersensitivity NOT_TRANSLATED -HP:0041092 Overly sensitive NOT_TRANSLATED -HP:0041093 Beau lines NOT_TRANSLATED -HP:0041093 Ladder nail NOT_TRANSLATED -HP:0041093 Ladder nail sign NOT_TRANSLATED -HP:0008326 Reduced vitamin b6 levels NOT_TRANSLATED -HP:0008326 Vitamin B6 deficiency NOT_TRANSLATED -HP:0041094 Complete tracheal ring deformity NOT_TRANSLATED -HP:0041094 Complete tracheal rings NOT_TRANSLATED -HP:0041094 CTRD NOT_TRANSLATED -HP:0008330 Decreased von willebrand factor activity NOT_TRANSLATED -HP:0008331 Elevated CK after exercise NOT_TRANSLATED -HP:0008331 Elevated CPK after exercise NOT_TRANSLATED -HP:0008331 Elevated creatine phosphokinase after exercise NOT_TRANSLATED -HP:0008331 Elevated phospho-CK after exercise NOT_TRANSLATED -HP:0008331 Elevated phospho-creatine kinase after exercise NOT_TRANSLATED -HP:0008331 Increased CK after exercise NOT_TRANSLATED -HP:0008331 Increased creatine kinase after exercise NOT_TRANSLATED -HP:0008331 Increased creatine phosphokinase after exercise NOT_TRANSLATED -HP:0008331 Increased phospho-CK after exercise NOT_TRANSLATED -HP:0008331 Increased phospho-creatine kinase after exercise NOT_TRANSLATED -HP:0008338 Partial functional adipsin deficiency NOT_TRANSLATED -HP:0008338 Partial functional factor d deficiency NOT_TRANSLATED -HP:0008341 Renal tubular acidosis, type I NOT_TRANSLATED -HP:0008345 Hypoplasia of the pupil dilator muscle NOT_TRANSLATED -HP:0008345 Underdeveloped iris dilator muscle NOT_TRANSLATED -HP:0008345 Underdeveloped pupil dilator muscle NOT_TRANSLATED -HP:0008346 Increased sickling of erythrocytes NOT_TRANSLATED -HP:0008346 Increased sickling of red cells NOT_TRANSLATED -HP:0041114 bone metaphysis of femur NOT_TRANSLATED -HP:0008347 Respiratory complex IV deficiency NOT_TRANSLATED -HP:0041115 bone right clavicle NOT_TRANSLATED -HP:0008348 Decreased IgG2 level in blood NOT_TRANSLATED -HP:0008348 Immunoglobulin IgG2 deficiency NOT_TRANSLATED -HP:0008348 Reduced IgG2 levels NOT_TRANSLATED -HP:0041116 bone left clavicle NOT_TRANSLATED -HP:0041117 bone lower limb segment NOT_TRANSLATED -HP:0041118 bone upper limb segment NOT_TRANSLATED -HP:0041119 bone metacarpus skeleton NOT_TRANSLATED -HP:0008352 Impaired thrombocytes adhesion NOT_TRANSLATED -HP:0041121 bone epiphysis of fifth metacarpal bone NOT_TRANSLATED -HP:0008358 Prolinemia NOT_TRANSLATED -HP:0008362 Absent/small big toe NOT_TRANSLATED -HP:0008362 Absent/underdeveloped big toe NOT_TRANSLATED -HP:0008362 Aplastic/hypoplastic halluces NOT_TRANSLATED -HP:0008363 Absent/small ankle bone NOT_TRANSLATED -HP:0008363 Absent/underdeveloped ankle bone NOT_TRANSLATED -HP:0008363 Aplastic/hypoplastic tarsals NOT_TRANSLATED -HP:0008364 Abnormal heel bone NOT_TRANSLATED -HP:0008365 Abnormal large bone of ankle NOT_TRANSLATED -HP:0008366 Contractures involving the joints of the feet NOT_TRANSLATED -HP:0008366 Contractures of the foot joints NOT_TRANSLATED -HP:0008366 Joint contractures involving the joints of the feet NOT_TRANSLATED -HP:0008368 Fused ankle bones NOT_TRANSLATED -HP:0008368 Synostosis involving tarsal bones NOT_TRANSLATED -HP:0008368 Synostosis of tarsal bones NOT_TRANSLATED -HP:0008368 Tarsal bone fusion NOT_TRANSLATED -HP:0008368 Tarsal bone synostosis NOT_TRANSLATED -HP:0008368 Tarsal fusion NOT_TRANSLATED -HP:0008368 Tarsal fusions NOT_TRANSLATED -HP:0008369 Abnormal maturation of ankle bones NOT_TRANSLATED -HP:0008369 Abnormal ossification of tarsal bones NOT_TRANSLATED -HP:0008369 Hardening of ankle bones NOT_TRANSLATED -HP:0008371 Abnormal maturation of long bone of foot NOT_TRANSLATED -HP:0008371 Abnormal ossification involving metatarsal bones NOT_TRANSLATED -HP:0041143 bone tibia NOT_TRANSLATED -HP:0041143 Broken tibia NOT_TRANSLATED -HP:0041143 Fracture of the tibia NOT_TRANSLATED -HP:0041143 Tibial fracture NOT_TRANSLATED -HP:0008376 Breathy speech NOT_TRANSLATED -HP:0041144 bone clavicle bone NOT_TRANSLATED -HP:0041145 bone acetabular part of hip bone NOT_TRANSLATED -HP:0041146 bone coccyx NOT_TRANSLATED -HP:0041147 bone epiphysis NOT_TRANSLATED -HP:0041149 bone navicular bone of pes NOT_TRANSLATED -HP:0041150 bone cuboid bone NOT_TRANSLATED -HP:0041152 bone sternoclavicular joint NOT_TRANSLATED -HP:0041153 bone ankle joint NOT_TRANSLATED -HP:0008386 Absent/hypoplastic nails NOT_TRANSLATED -HP:0008386 Absent/small nails NOT_TRANSLATED -HP:0008386 Absent/underdeveloped nails NOT_TRANSLATED -HP:0008386 Nail aplasia/hypoplasia NOT_TRANSLATED -HP:0041154 bone elbow joint NOT_TRANSLATED -HP:0041155 bone mandible NOT_TRANSLATED -HP:0008388 Abnormality of the toenail NOT_TRANSLATED -HP:0008388 Abnormality of the toenails NOT_TRANSLATED -HP:0041156 bone orbit of skull NOT_TRANSLATED -HP:0041157 bone larynx NOT_TRANSLATED -HP:0008390 Recurrent shedding of toenails and fingernails NOT_TRANSLATED -HP:0008391 Poor fingernail formation NOT_TRANSLATED -HP:0041159 bone rib NOT_TRANSLATED -HP:0008392 Thickened, discolored skin under nail NOT_TRANSLATED -HP:0008392 Thickened, discoloured skin under nail NOT_TRANSLATED -HP:0008394 Congenital malformed nails NOT_TRANSLATED -HP:0041162 bone pes NOT_TRANSLATED -HP:0041162 Broken foot NOT_TRANSLATED -HP:0041162 Fractured pes NOT_TRANSLATED -HP:0041162 Metatarsal fracture NOT_TRANSLATED -HP:0041163 bone manual digit NOT_TRANSLATED -HP:0041164 bone talus NOT_TRANSLATED -HP:0041165 bone maxilla NOT_TRANSLATED -HP:0008398 Underdeveloped fifth fingernail NOT_TRANSLATED -HP:0008398 Underdeveloped fingernail of little finger NOT_TRANSLATED -HP:0008398 Underdeveloped fingernail of pinkie finger NOT_TRANSLATED -HP:0008398 Underdeveloped fingernail of pinky finger NOT_TRANSLATED -HP:0041166 bone vertebra NOT_TRANSLATED -HP:0008399 Thick skin around nails NOT_TRANSLATED -HP:0041167 bone cervical vertebra NOT_TRANSLATED -HP:0008400 Detachment of outermost fingernails NOT_TRANSLATED -HP:0041168 bone lumbar vertebra NOT_TRANSLATED -HP:0008401 Overgrowth and curving of toenails NOT_TRANSLATED -HP:0008402 Longitudinally grooved fingernails NOT_TRANSLATED -HP:0008402 Ridged fingernails NOT_TRANSLATED -HP:0008404 Dystrophic nails NOT_TRANSLATED -HP:0008404 Onychodystrophy NOT_TRANSLATED -HP:0008404 Poor nail formation NOT_TRANSLATED -HP:0041172 bone fused sacrum NOT_TRANSLATED -HP:0041173 bone metacarpophalangeal joint NOT_TRANSLATED -HP:0041174 bone distal phalanx of manus NOT_TRANSLATED -HP:0008407 Tightly curved thumb nail NOT_TRANSLATED -HP:0041175 bone middle phalanx of pes NOT_TRANSLATED -HP:0041176 bone distal phalanx of manual digit 2 NOT_TRANSLATED -HP:0041177 bone distal phalanx of manual digit 3 NOT_TRANSLATED -HP:0041178 bone distal phalanx of manual digit 4 NOT_TRANSLATED -HP:0041179 bone distal phalanx of manual digit 5 NOT_TRANSLATED -HP:0041180 bone distal phalanx of pedal digit 1 NOT_TRANSLATED -HP:0041181 bone distal phalanx of pedal digit 3 NOT_TRANSLATED -HP:0008414 Hunched back in infancy NOT_TRANSLATED -HP:0008414 Round back in infancy NOT_TRANSLATED -HP:0041182 bone middle phalanx of manual digit 2 NOT_TRANSLATED -HP:0041183 bone middle phalanx of manual digit 3 NOT_TRANSLATED -HP:0041184 bone middle phalanx of manual digit 4 NOT_TRANSLATED -HP:0008417 Underdeveloped vertebrae NOT_TRANSLATED -HP:0041185 bone middle phalanx of manual digit 5 NOT_TRANSLATED -HP:0041186 bone middle phalanx of pedal digit 3 NOT_TRANSLATED -HP:0008419 Degeneration of intervertebral discs NOT_TRANSLATED -HP:0008419 Degeneration of intervertebral disks NOT_TRANSLATED -HP:0008419 Degenerative disc disease NOT_TRANSLATED -HP:0008419 Degenerative intervertebral disc NOT_TRANSLATED -HP:0008419 Degenerative intervertebral disk NOT_TRANSLATED -HP:0041187 bone proximal phalanx of pedal digit 1 NOT_TRANSLATED -HP:0041188 bone proximal phalanx of manual digit 1 NOT_TRANSLATED -HP:0041189 bone epiphysis of femur NOT_TRANSLATED -HP:0008422 anterior wedging NOT_TRANSLATED -HP:0008422 Wedge-shaped vertebrae NOT_TRANSLATED -HP:0008422 Wedged vertebrae NOT_TRANSLATED -HP:0041190 bone epiphysis of second metacarpal bone NOT_TRANSLATED -HP:0041191 bone epiphysis of third metacarpal bone NOT_TRANSLATED -HP:0008424 Underdeveloped 5th lumbar vertebrae NOT_TRANSLATED -HP:0041192 bone epiphysis of fourth metacarpal bone NOT_TRANSLATED -HP:0041193 bone epiphysis of first metatarsal bone NOT_TRANSLATED -HP:0041194 bone epiphysis of second metatarsal bone NOT_TRANSLATED -HP:0041195 bone epiphysis of third metatarsal bone NOT_TRANSLATED -HP:0008428 Vertebral clefts NOT_TRANSLATED -HP:0041196 bone distal epiphysis of radius NOT_TRANSLATED -HP:0041197 bone proximal epiphysis of first metacarpal bone NOT_TRANSLATED -HP:0008430 Anterior tongue-like protrusion of lumbar vertebral bodies NOT_TRANSLATED -HP:0041198 bone proximal epiphysis of middle phalanx of manual digit 3 NOT_TRANSLATED -HP:0041199 bone interphalangeal joint NOT_TRANSLATED -HP:0041200 bone sternal end of clavicle NOT_TRANSLATED -HP:0008434 Cervical vertebrae hypoplasia NOT_TRANSLATED -HP:0008434 Underdeveloped cervical vertebrae NOT_TRANSLATED -HP:0008436 Absent/small tailbone NOT_TRANSLATED -HP:0008436 Absent/underdeveloped tailbone NOT_TRANSLATED -HP:0008438 Vertebral arch abnormalities NOT_TRANSLATED -HP:0008441 Herniated disc NOT_TRANSLATED -HP:0008441 Herniated disk NOT_TRANSLATED -HP:0008441 Herniated intervertebral nuclei NOT_TRANSLATED -HP:0041209 bone epiphysis of middle phalanx of manus NOT_TRANSLATED -HP:0041210 bone lateral malleolus of fibula NOT_TRANSLATED -HP:0008443 Charcot spinal arthropathy NOT_TRANSLATED -HP:0008443 Spinal deformities NOT_TRANSLATED -HP:0008443 Spinal neuroarthropathy NOT_TRANSLATED -HP:0041211 bone proximal phalanx of digit 2 NOT_TRANSLATED -HP:0008444 Posterior wedging NOT_TRANSLATED -HP:0041212 bone proximal phalanx of digit 3 NOT_TRANSLATED -HP:0008445 Narrow cervical spinal canal NOT_TRANSLATED -HP:0041213 bone proximal phalanx of digit 4 NOT_TRANSLATED -HP:0041214 bone proximal phalanx of digit 5 NOT_TRANSLATED -HP:0041215 bone fused metatarsal bones 2-4 NOT_TRANSLATED -HP:0041216 bone distal epiphysis of distal phalanx of manual digit 1 NOT_TRANSLATED -HP:0041217 bone shoulder joint NOT_TRANSLATED -HP:0008450 Interpedicular narrowing NOT_TRANSLATED -HP:0008450 Narrow interpedicular space NOT_TRANSLATED -HP:0008450 Narrow interpediculate distances NOT_TRANSLATED -HP:0008450 Narrowing of interpediculate distances NOT_TRANSLATED -HP:0041218 bone distal phalanx NOT_TRANSLATED -HP:0041219 bone elbow NOT_TRANSLATED -HP:0041220 bone facial bone NOT_TRANSLATED -HP:0041221 bone head of femur NOT_TRANSLATED -HP:0008454 Lumbar gibbus deformity NOT_TRANSLATED -HP:0008454 Rounded lower back NOT_TRANSLATED -HP:0041222 bone fibula NOT_TRANSLATED -HP:0041222 Broken fibula NOT_TRANSLATED -HP:0041222 Fibula fracture NOT_TRANSLATED -HP:0041222 Fracture of the fibula NOT_TRANSLATED -HP:0008455 Absence of some of the sacral and coccygeal bones NOT_TRANSLATED -HP:0008455 Partial sacral agenesis NOT_TRANSLATED -HP:0008455 Sacral dysgenesis NOT_TRANSLATED -HP:0041223 bone metatarsal bone of digit 5 NOT_TRANSLATED -HP:0041224 bone manual digit bone NOT_TRANSLATED -HP:0008457 Caudal narrowing of interpedicular distances NOT_TRANSLATED -HP:0041225 bone metacarpal bone of digit 1 NOT_TRANSLATED -HP:0041226 bone distal tarsal bone NOT_TRANSLATED -HP:0008459 Cervical vertebrae agenesis NOT_TRANSLATED -HP:0008459 Missing cervical vertebrae NOT_TRANSLATED -HP:0041227 bone distal tarsal bone 2 NOT_TRANSLATED -HP:0008460 Underdeveloped spinal processes NOT_TRANSLATED -HP:0041228 bone distal tarsal bone 3 NOT_TRANSLATED -HP:0041230 bone metatarsal bone of digit 4 NOT_TRANSLATED -HP:0041231 bone metatarsal bone of digit 1 NOT_TRANSLATED -HP:0008465 Absent vertebrae NOT_TRANSLATED -HP:0041233 bone ilium NOT_TRANSLATED -HP:0041234 bone bone of jaw NOT_TRANSLATED -HP:0008467 Midthoracic hemivertebrae NOT_TRANSLATED -HP:0041235 bone hindlimb bone NOT_TRANSLATED -HP:0041236 bone middle phalanx of manus NOT_TRANSLATED -HP:0041237 bone patella NOT_TRANSLATED -HP:0008470 Narrowness of interpediculate distances in lower thoracic regions NOT_TRANSLATED -HP:0041239 bone manual digit 1 phalanx NOT_TRANSLATED -HP:0008472 Large tailbone NOT_TRANSLATED -HP:0008472 Prominent protruding tailbone NOT_TRANSLATED -HP:0041240 bone phalanx of pes NOT_TRANSLATED -HP:0008473 Reduced anterior-posterior diameter of vertebral bodies NOT_TRANSLATED -HP:0008473 Reduced sagittal diameter of vertebrae NOT_TRANSLATED -HP:0041241 bone phalanx of manus NOT_TRANSLATED -HP:0041243 bone proximal phalanx of manus NOT_TRANSLATED -HP:0008476 irregular, dense end plate NOT_TRANSLATED -HP:0041244 bone scapula NOT_TRANSLATED -HP:0041245 bone shoulder bone NOT_TRANSLATED -HP:0041246 bone sternum NOT_TRANSLATED -HP:0008479 Small vertebrae NOT_TRANSLATED -HP:0008479 Small vertebral bodies NOT_TRANSLATED -HP:0008479 Underdeveloped back bones NOT_TRANSLATED -HP:0041247 bone tarsal bone NOT_TRANSLATED -HP:0008480 Cervical osteoarthritis NOT_TRANSLATED -HP:0008480 Cervical spine degeneration NOT_TRANSLATED -HP:0008480 Neck arthritis NOT_TRANSLATED -HP:0041248 bone carpal bone NOT_TRANSLATED -HP:0041248 Broken wrist NOT_TRANSLATED -HP:0041248 Carpal bone fracture NOT_TRANSLATED -HP:0041248 Fractured wrist NOT_TRANSLATED -HP:0041248 Wrist fracture NOT_TRANSLATED -HP:0041249 bone nose NOT_TRANSLATED -HP:0500005 Rectal pain NOT_TRANSLATED -HP:0008484 Narrow thoracolumbar interpediculate distance NOT_TRANSLATED -HP:0008486 Decreasing lumbar vertebrae interpediculate distance NOT_TRANSLATED -HP:0500001 BO NOT_TRANSLATED -HP:0500001 Body odour NOT_TRANSLATED -HP:0500001 Bromhidrosis NOT_TRANSLATED -HP:0500001 Bromidrosis NOT_TRANSLATED -HP:0500001 Osmidrosis NOT_TRANSLATED -HP:0008489 Spondylolysis and spondylolisthesis of l5 NOT_TRANSLATED -HP:0500013 Absence of GnRH pulsatility NOT_TRANSLATED -HP:0500012 Abnormality of GnRH level NOT_TRANSLATED -HP:0500012 Abnormality of gonadotropin-releasing hormone level NOT_TRANSLATED -HP:0500011 Moon face NOT_TRANSLATED -HP:0500011 Puffy face NOT_TRANSLATED -HP:0500011 Puffy facies NOT_TRANSLATED -HP:0008494 Inferior subluxated lens NOT_TRANSLATED -HP:0500009 LDD NOT_TRANSLATED -HP:0500009 Lhermitte-Duclos disease NOT_TRANSLATED -HP:0500008 Vortex keratopathy NOT_TRANSLATED -HP:0008496 Double row of eyelashes NOT_TRANSLATED -HP:0008496 Extra rows of eyelashes NOT_TRANSLATED -HP:0008496 Two rows of eyelashes NOT_TRANSLATED -HP:0500023 Absent shoulder muscle NOT_TRANSLATED -HP:0500022 Abnormal serum androstenolone level NOT_TRANSLATED -HP:0500022 Abnormal serum dehydroepiandrosterone level NOT_TRANSLATED -HP:0500022 Abnormal serum DHEA NOT_TRANSLATED -HP:0008498 Absence of adult teeth NOT_TRANSLATED -HP:0008498 Absence of secondary dentition NOT_TRANSLATED -HP:0008498 Missing adult teeth NOT_TRANSLATED -HP:0008498 No adult dentition NOT_TRANSLATED -HP:0008498 No secondary dentition NOT_TRANSLATED -HP:0008499 High hyperopia NOT_TRANSLATED -HP:0008499 High-grade hypermetropia NOT_TRANSLATED -HP:0008499 Severe farsightedness NOT_TRANSLATED -HP:0008499 Severe long-sightedness NOT_TRANSLATED -HP:0500019 Abnormal metabolic cart test NOT_TRANSLATED -HP:0008501 Central cleft lip and palate NOT_TRANSLATED -HP:0008501 Medial cleft lip and palate NOT_TRANSLATED -HP:0008501 Midline cleft lip/palate NOT_TRANSLATED -HP:0008501 Wide midline cleft lip/palate NOT_TRANSLATED -HP:0500018 Abnormal cardiac exercise test NOT_TRANSLATED -HP:0500018 Abnormal exercise test NOT_TRANSLATED -HP:0500018 Abnormal treadmill test NOT_TRANSLATED -HP:0500017 Abnormal cardiac cath NOT_TRANSLATED -HP:0500016 Abnormal cardiac magnetic resonance imaging NOT_TRANSLATED -HP:0500016 Abnormal heart MRI NOT_TRANSLATED -HP:0008504 Moderate neural deafness NOT_TRANSLATED -HP:0500028 CWPs NOT_TRANSLATED -HP:0500027 Absence of the colon NOT_TRANSLATED -HP:0500027 Aplasia of the colon NOT_TRANSLATED -HP:0500039 Cicatricial conjunctivitis NOT_TRANSLATED -HP:0500039 Cicatrizating conjunctivitis NOT_TRANSLATED -HP:0500039 Conjunctival cicatricial conjunctivitis NOT_TRANSLATED -HP:0008513 Bilateral conductive deafness NOT_TRANSLATED -HP:0008513 Bilateral conductive hearing loss NOT_TRANSLATED -HP:0008515 Absent/small vertebrae NOT_TRANSLATED -HP:0008515 Absent/underdeveloped vertebrae NOT_TRANSLATED -HP:0008517 Absent/small sacrum NOT_TRANSLATED -HP:0008517 Absent/underdeveloped sacrum NOT_TRANSLATED -HP:0008518 Absent/small backbone NOT_TRANSLATED -HP:0008518 Absent/small spine NOT_TRANSLATED -HP:0008518 Absent/small vertebral column NOT_TRANSLATED -HP:0008518 Absent/underdeveloped backbone NOT_TRANSLATED -HP:0008518 Absent/underdeveloped spine NOT_TRANSLATED -HP:0008518 Absent/underdeveloped vertebral column NOT_TRANSLATED -HP:0008519 Abnormal tailbone NOT_TRANSLATED -HP:0008519 Abnormality of the coccyx NOT_TRANSLATED -HP:0500032 Aberrant neuronal branching NOT_TRANSLATED -HP:0500032 Abnormal neuronal branching NOT_TRANSLATED -HP:0008523 Ear, posterior helical groove NOT_TRANSLATED -HP:0008523 Ear, posterior helical notch NOT_TRANSLATED -HP:0008523 Helix, posterior pit NOT_TRANSLATED -HP:0008523 Indentation in back of outer ear NOT_TRANSLATED -HP:0008523 Pits in posterior aspect of ear helices NOT_TRANSLATED -HP:0500042 Latent hyperopia NOT_TRANSLATED -HP:0008527 Bilateral congenital sensorineural deafness NOT_TRANSLATED -HP:0008527 Congenital neurosensory deafness NOT_TRANSLATED -HP:0008527 Congenital perceptive deafness NOT_TRANSLATED -HP:0008527 Congenital sensorineural deafness NOT_TRANSLATED -HP:0008527 Congenital sensorineural hearing loss NOT_TRANSLATED -HP:0008527 Hearing loss, congenital sensorineural NOT_TRANSLATED -HP:0500040 Conjunctival lipodermoid NOT_TRANSLATED -HP:0008528 Ear hair NOT_TRANSLATED -HP:0008528 Long hairs growing from helix of ear NOT_TRANSLATED -HP:0500055 ROP 4b NOT_TRANSLATED -HP:0008529 Absence of acoustic middle ear muscle reflexes NOT_TRANSLATED -HP:0008529 Absent middle ear reflexes NOT_TRANSLATED -HP:0500054 ROP stage 4a NOT_TRANSLATED -HP:0500053 ROP stage 4 NOT_TRANSLATED -HP:0500052 ROP stage 3 NOT_TRANSLATED -HP:0500051 ROP stage 2 NOT_TRANSLATED -HP:0500050 ROP stage 1 NOT_TRANSLATED -HP:0500063 ROP pre-plus NOT_TRANSLATED -HP:0008537 Cleft at the superior portion of the ear NOT_TRANSLATED -HP:0500062 ROP plus NOT_TRANSLATED -HP:0500061 ROP zone III NOT_TRANSLATED -HP:0500060 ROP zone II NOT_TRANSLATED -HP:0500059 ROP zone 1 NOT_TRANSLATED -HP:0008541 High set ears NOT_TRANSLATED -HP:0500058 ROP stage 5b NOT_TRANSLATED -HP:0500057 ROP stage 5a NOT_TRANSLATED -HP:0500056 ROP stage 5 NOT_TRANSLATED -HP:0500065 ROP prethreshold NOT_TRANSLATED -HP:0008551 Bilateral microtia NOT_TRANSLATED -HP:0008551 Hypoplasia of the external ear NOT_TRANSLATED -HP:0008551 Hypoplastic ears NOT_TRANSLATED -HP:0008551 Hypoplastic pinna NOT_TRANSLATED -HP:0008551 Small ears NOT_TRANSLATED -HP:0008551 Small pinnae NOT_TRANSLATED -HP:0008551 Underdeveloped ears NOT_TRANSLATED -HP:0500064 ROP threshold NOT_TRANSLATED -HP:0008559 Underdeveloped superior helices NOT_TRANSLATED -HP:0500086 Optic nerve grey crescent NOT_TRANSLATED -HP:0500086 Temporal gray pigmentary crescent NOT_TRANSLATED -HP:0500086 Temporal grey pigmentary crescent NOT_TRANSLATED -HP:0008568 Vestibular ataxia NOT_TRANSLATED -HP:0008569 Cockleshell ear NOT_TRANSLATED -HP:0008569 Constricted helix type IV NOT_TRANSLATED -HP:0008569 Ear, grade II dysplasia NOT_TRANSLATED -HP:0008569 Mini ear NOT_TRANSLATED -HP:0008569 Severe cupped ear, type III NOT_TRANSLATED -HP:0008569 Shell ear NOT_TRANSLATED -HP:0008569 Snail ear NOT_TRANSLATED -HP:0500093 IgE-mediated food allergy NOT_TRANSLATED -HP:0500093 Immunoglobulin E-mediated food allergy NOT_TRANSLATED -HP:0008573 Low-frequency sensorineural hearing loss NOT_TRANSLATED -HP:0500090 Peri-ocular capillary hemangioma NOT_TRANSLATED -HP:0008577 Poorly folded helices NOT_TRANSLATED -HP:0500110 Positive urine marijuana test NOT_TRANSLATED -HP:0500110 Postive urine pot test NOT_TRANSLATED -HP:0008586 Hypoplastic cochlea NOT_TRANSLATED -HP:0008586 Underdeveloped cochlea NOT_TRANSLATED -HP:0008587 Mild neurosensory hearing loss NOT_TRANSLATED -HP:0008589 Underdeveloped helices NOT_TRANSLATED -HP:0500105 Decreased systolic BP NOT_TRANSLATED -HP:0500105 Reduced systolic blood pressure NOT_TRANSLATED -HP:0008591 Congenital conductive deafness NOT_TRANSLATED -HP:0008591 Congenital conductive hearing loss NOT_TRANSLATED -HP:0500104 Decreased diastolic BP NOT_TRANSLATED -HP:0500104 Reduced diastolic blood pressure NOT_TRANSLATED -HP:0008593 Enlarged antitragus NOT_TRANSLATED -HP:0008593 Hyperplastic antitragus NOT_TRANSLATED -HP:0008593 Hypertrophic antitragus NOT_TRANSLATED -HP:0008598 Conductive hearing loss, mild NOT_TRANSLATED -HP:0008605 Deformed external ear on one side NOT_TRANSLATED -HP:0008606 Pit above the ear NOT_TRANSLATED -HP:0008606 Supraauricular fistula NOT_TRANSLATED -HP:0008606 Supraauricular sinus NOT_TRANSLATED -HP:0008606 Supraauricular sinuses NOT_TRANSLATED -HP:0008607 Progressive conductive deafness NOT_TRANSLATED -HP:0500135 Decreased tryptophan in blood NOT_TRANSLATED -HP:0500135 Low blood tryptophan concentration NOT_TRANSLATED -HP:0008609 Middle ear malformation NOT_TRANSLATED -HP:0500134 High blood tryptophan concentration NOT_TRANSLATED -HP:0500134 Increased tryptophan in blood NOT_TRANSLATED -HP:0008610 Infantile sensorineural hearing loss NOT_TRANSLATED -HP:0500133 Decreased tyrosine in blood NOT_TRANSLATED -HP:0500133 Low blood tyrosine concentration NOT_TRANSLATED -HP:0500132 Low blood valine concentration NOT_TRANSLATED -HP:0008615 Late sensorineural hearing loss NOT_TRANSLATED -HP:0008615 Sensorineural deafness, late-onset NOT_TRANSLATED -HP:0500143 Decreased blood concentration of leucine NOT_TRANSLATED -HP:0500143 Low blood leucine levels NOT_TRANSLATED -HP:0500142 Decreased blood lysine NOT_TRANSLATED -HP:0500142 Low blood lysine levels NOT_TRANSLATED -HP:0500141 Decreased blood phenylalanine NOT_TRANSLATED -HP:0500141 Low blood phenylalanine NOT_TRANSLATED -HP:0008619 Bilateral nerve deafness NOT_TRANSLATED -HP:0008619 Bilateral sensorineural deafness NOT_TRANSLATED -HP:0008619 Bilateral sensorineural hearing loss NOT_TRANSLATED -HP:0008619 Hearing loss, sensorineural, bilateral NOT_TRANSLATED -HP:0500140 Decreased hydroxyproline in the blood NOT_TRANSLATED -HP:0500140 Low level of hydroxyproline in the blood NOT_TRANSLATED -HP:0500139 Decreased blood proline levels NOT_TRANSLATED -HP:0500139 Low blood proline concentration NOT_TRANSLATED -HP:0500138 Elevated circulating serine levels NOT_TRANSLATED -HP:0500138 High blood serine levels NOT_TRANSLATED -HP:0500138 Increased serine blood concentration NOT_TRANSLATED -HP:0500136 Decreased circulating threonine levels NOT_TRANSLATED -HP:0500136 Decreased threonine blood levels NOT_TRANSLATED -HP:0500136 Low blood threonine concentration NOT_TRANSLATED -HP:0500151 High blood cystine levels NOT_TRANSLATED -HP:0500151 Increased blood cystine concentraions NOT_TRANSLATED -HP:0008625 Severe sensorineural deafness NOT_TRANSLATED -HP:0008625 Severe sensorineural hearing loss NOT_TRANSLATED -HP:0500150 Decreased blood glutamate concentrations NOT_TRANSLATED -HP:0500150 Low blood glutamate levels NOT_TRANSLATED -HP:0500149 High blood glutamate levels NOT_TRANSLATED -HP:0500149 Increased blood glutamate concentration NOT_TRANSLATED -HP:0500148 Abnormality of glutamate metabolism NOT_TRANSLATED -HP:0008628 Stapedial abnormalities NOT_TRANSLATED -HP:0500147 Decreased blood glutamine concentration NOT_TRANSLATED -HP:0500147 Low blood glutamine level NOT_TRANSLATED -HP:0500145 Decreased blood histidine concentration NOT_TRANSLATED -HP:0500145 Low blood histidine levels NOT_TRANSLATED -HP:0500144 Decreased blood isoleucine concentration NOT_TRANSLATED -HP:0500144 Low blood isoleucine levels NOT_TRANSLATED -HP:0500159 High blood aspartic acid levels NOT_TRANSLATED -HP:0500159 Increased blood aspartic acid NOT_TRANSLATED -HP:0500159 Increased level of circulating aspartic acid NOT_TRANSLATED -HP:0008633 Absent gonadal tissue NOT_TRANSLATED -HP:0008633 Gonadal agenesis NOT_TRANSLATED -HP:0500158 Abnormal circulating aspartate concentration NOT_TRANSLATED -HP:0500157 Decreased blood asparagine concentration NOT_TRANSLATED -HP:0500157 Low blood asparagine levels NOT_TRANSLATED -HP:0008635 Hypertrophic urinary bladder NOT_TRANSLATED -HP:0500156 High blood asaparagine levels NOT_TRANSLATED -HP:0500156 Increased blood asparagine concentration NOT_TRANSLATED -HP:0500155 Abnormality of asparagine metabolism NOT_TRANSLATED -HP:0500154 Decreased blood alanine concentration NOT_TRANSLATED -HP:0500154 Low blood alanine levels NOT_TRANSLATED -HP:0500153 High blood arginine levels NOT_TRANSLATED -HP:0500153 Increased blood arginine concentration NOT_TRANSLATED -HP:0008639 Underdeveloped gonad NOT_TRANSLATED -HP:0500152 Decreased blood cystine concentration NOT_TRANSLATED -HP:0500152 Low blood cystine levels NOT_TRANSLATED -HP:0500167 Elevated gastrin in the blood NOT_TRANSLATED -HP:0500167 Increased blood gastrin NOT_TRANSLATED -HP:0500166 Abnormal circulating gastrin level NOT_TRANSLATED -HP:0500165 Abnormal blood O2 level NOT_TRANSLATED -HP:0500165 Abnormal blood oxygen levels NOT_TRANSLATED -HP:0500165 Abnormal O2 blood concentration NOT_TRANSLATED -HP:0500164 Abnormal CO2 levels in blood NOT_TRANSLATED -HP:0500163 Decreased blood ornithine concentrations NOT_TRANSLATED -HP:0500163 Low blood ornithine levels NOT_TRANSLATED -HP:0500162 Decreased blood carnosine concentration NOT_TRANSLATED -HP:0500162 Low blood carnosine levels NOT_TRANSLATED -HP:0500161 High blood carnosine levels NOT_TRANSLATED -HP:0500161 Increased blood carnosine concenrtation NOT_TRANSLATED -HP:0500160 Abnormality of carnosine metabolism NOT_TRANSLATED -HP:0500173 Reflex anoxic seizure NOT_TRANSLATED -HP:0500173 Reflex anoxic seizures NOT_TRANSLATED -HP:0008652 Impotence due to autonomic dysfunction NOT_TRANSLATED -HP:0008655 Absent or rudimentary fallopian tubes NOT_TRANSLATED -HP:0008655 Absent/small fallopian tube NOT_TRANSLATED -HP:0008655 Absent/underdeveloped fallopian tube NOT_TRANSLATED -HP:0500182 Decreased circulating taurine levels NOT_TRANSLATED -HP:0500182 Lower blood levels of taurine NOT_TRANSLATED -HP:0500182 Reduced taurine levels in the blood NOT_TRANSLATED -HP:0500181 Elevated serum taurine levels NOT_TRANSLATED -HP:0500181 Increased circulating taurine levels in the blood NOT_TRANSLATED -HP:0008659 Medullary cystic disease NOT_TRANSLATED -HP:0008659 Medullary sponge kidney disease NOT_TRANSLATED -HP:0008660 Renal tubular dysgenesis NOT_TRANSLATED -HP:0008661 Narrowing of the urethra NOT_TRANSLATED -HP:0500191 High leucine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008665 Clitoral enlargement NOT_TRANSLATED -HP:0008665 Clitoromegaly NOT_TRANSLATED -HP:0008665 Enlarged clitoris NOT_TRANSLATED -HP:0008665 Hypertrophic clitoris NOT_TRANSLATED -HP:0008665 Prominent clitoris NOT_TRANSLATED -HP:0500190 Low leucine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500189 Abnormal leucine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500188 Low valine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008668 46,xy gonadal dysgenesis NOT_TRANSLATED -HP:0500187 High valine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008669 Abnormal sperm development NOT_TRANSLATED -HP:0008669 Impaired spermatogenesis NOT_TRANSLATED -HP:0500186 Abnormal valine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500185 Abnormal branched-chain amino acid levels in cerbrospinal fluid NOT_TRANSLATED -HP:0500184 Abnormal amino acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500184 Abnormal cerebrospinal fluid amino acid level NOT_TRANSLATED -HP:0500184 Abnormal CSF amino acid level NOT_TRANSLATED -HP:0008672 Ca oxalate kidney stone NOT_TRANSLATED -HP:0008672 Ca oxalate nephrolithiasis NOT_TRANSLATED -HP:0008672 Ca oxalate urolithiasis NOT_TRANSLATED -HP:0008672 Ca2+ oxalate kidney stone NOT_TRANSLATED -HP:0008672 Ca2+ oxalate nephrolithiasis NOT_TRANSLATED -HP:0008672 Ca2+ oxalate urolithiasis NOT_TRANSLATED -HP:0008672 Calcium oxalate kidney stones NOT_TRANSLATED -HP:0008672 Calcium oxalate urolithiasis NOT_TRANSLATED -HP:0008672 Oxalate nephrolithiasis NOT_TRANSLATED -HP:0500199 Abnormal glutamic acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500198 Low glutamine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500197 High glutamine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008675 Enlarged ovaries with cysts NOT_TRANSLATED -HP:0500196 Abnormal glutamine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008676 Congenital megaloureter NOT_TRANSLATED -HP:0500195 Abnormal glutamine family amino acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008677 Congenital nephrosis NOT_TRANSLATED -HP:0500194 Low levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED -HP:0008678 Absent/small kidney NOT_TRANSLATED -HP:0008678 Absent/underdeveloped kidney NOT_TRANSLATED -HP:0008678 Renal agenesis/hypoplasia NOT_TRANSLATED -HP:0008678 Renal aplasia/hypoplasia NOT_TRANSLATED -HP:0500193 High levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED -HP:0500192 Abnormal isoleucine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500207 Low lysine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500206 Abnormal lysine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008682 Acute tubular necrosis NOT_TRANSLATED -HP:0008682 Renal tubular necrosis NOT_TRANSLATED -HP:0500205 Abnormal aspartate-family amino acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008683 Hypertrophic labia minora NOT_TRANSLATED -HP:0008683 Labia minora hypertrophy NOT_TRANSLATED -HP:0500204 Low arginine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008684 Absent/small uterus NOT_TRANSLATED -HP:0008684 Absent/underdeveloped uterus NOT_TRANSLATED -HP:0500203 High arginine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500202 Abnormal arginine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500201 Low glutamic acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008687 Hypoplastic prostate NOT_TRANSLATED -HP:0008687 Underdeveloped prostate NOT_TRANSLATED -HP:0500200 High glutamic acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500215 Abnormal phenylalanine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008689 Cryptorchidism, bilateral NOT_TRANSLATED -HP:0500214 Abnormal aromatic amino acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500213 Low threonine levels in the cerebrospinal fluid NOT_TRANSLATED -HP:0500212 High threonine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500211 Abnormal threonine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500210 High methionine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500209 Abnormal methionine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008695 Transient nephrosis NOT_TRANSLATED -HP:0500208 High lysine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500223 High phenylalanine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008697 Rudimentary fallopian tubes NOT_TRANSLATED -HP:0008697 Underdeveloped fallopian tube NOT_TRANSLATED -HP:0500222 High tryptophan levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500221 Low tyrosine levels in the cerebrospinal fluid NOT_TRANSLATED -HP:0500220 High tyrosine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500219 Abnormal tyrosine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500218 Abnormal tryptophan levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500217 High aspartic acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500217 Increased CSF aspartic acid concentration NOT_TRANSLATED -HP:0500216 Abnormal aspartic acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500216 Abnormal CSF aspartic acid concentration NOT_TRANSLATED -HP:0500231 Abnormal pyruvate-family amino acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500230 High glycine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500229 Abnormal glycine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500228 Low serine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500227 High serine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500226 Abnormal serine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500225 Abnormal serine-family amino acid levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008711 Benign prostatic hypertrophy NOT_TRANSLATED -HP:0500224 Low phenylalanine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500239 High albumin levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500238 Abnormal albumin levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500237 Low histidine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500236 High histidine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008716 Urethrovaginal fistulae NOT_TRANSLATED -HP:0500235 Abnormal histidine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008717 Kidney degeneration on one side NOT_TRANSLATED -HP:0008717 Unilateral kidney wasting NOT_TRANSLATED -HP:0500234 Low alanine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500233 High alanine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500232 Abnormal alanine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500247 Abnormal alpha-aminobutyrate levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500246 High citrulline levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500245 Abnormal citrulline levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008723 Xy female gonadal dysgenesis NOT_TRANSLATED -HP:0500244 High ornithine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008724 Hypoplastic ovary NOT_TRANSLATED -HP:0008724 Underdeveloped ovary NOT_TRANSLATED -HP:0500243 Abnormal ornithine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500242 High homocarnosine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008726 Hypoplastic vagina NOT_TRANSLATED -HP:0008726 Rudimentary vagina NOT_TRANSLATED -HP:0008726 Underdeveloped vagina NOT_TRANSLATED -HP:0500241 Abnormal homocarnosine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500240 Abnormal carnosine levels in cerebrospinal fluid NOT_TRANSLATED -HP:0500255 Elevated urinary N-hexanoylglycine concentration NOT_TRANSLATED -HP:0008729 Absent vaginal lips NOT_TRANSLATED -HP:0500254 Abnormal urinary N-hexanoylglycine levels NOT_TRANSLATED -HP:0008730 Males with female external genitalia NOT_TRANSLATED -HP:0500253 Increased urinary excretion of gamma-aminobutyric acid (GABA) NOT_TRANSLATED -HP:0500252 Increased urine decanedioic acid concentration NOT_TRANSLATED -HP:0500251 Abnormal urine decanedioic acid concentration NOT_TRANSLATED -HP:0500250 High ethanolamine levels in the blood NOT_TRANSLATED -HP:0008734 Hypoplastic testes NOT_TRANSLATED -HP:0008734 Small testes NOT_TRANSLATED -HP:0008734 Small testis NOT_TRANSLATED -HP:0008734 Testicular hypoplasia NOT_TRANSLATED -HP:0500249 Abnormal ethanolamine levels in the blood NOT_TRANSLATED -HP:0500248 High alpha-aminobutyrate levels in cerebrospinal fluid NOT_TRANSLATED -HP:0008736 Underdeveloped penis NOT_TRANSLATED -HP:0500263 Abnormal proportion of circulating T-helper cells NOT_TRANSLATED -HP:0500261 Anaesthetics trigger episodes NOT_TRANSLATED -HP:0500261 Anaesthetics triggered symptoms NOT_TRANSLATED -HP:0500261 Anesthetics trigger episodes NOT_TRANSLATED -HP:0500261 Anesthetics triggered symptoms NOT_TRANSLATED -HP:0500261 Triggered by anaesthetics NOT_TRANSLATED -HP:0500260 Head trauma triggered symptoms NOT_TRANSLATED -HP:0008740 Vertical vaginal septum NOT_TRANSLATED -HP:0500259 Abnormal cord blood oxygen levels NOT_TRANSLATED -HP:0500259 Abnormal O2 level in cord blood NOT_TRANSLATED -HP:0500259 Abnormal oxygen amount in umbilical cord blood NOT_TRANSLATED -HP:0500258 Abnormal CO2 level in cord blood NOT_TRANSLATED -HP:0500258 Abnormal umbilical cord blood levels of carbon dioxide NOT_TRANSLATED -HP:0500257 High urinary isobutyrylglycine levels NOT_TRANSLATED -HP:0008743 Subcoronal hypospadias NOT_TRANSLATED -HP:0500256 Abnormal urinary isobutyrylglycine levels NOT_TRANSLATED -HP:0008744 Abnormal aryepiglottic folds NOT_TRANSLATED -HP:0008744 Abnormality of the aryepiglottic fold NOT_TRANSLATED -HP:0500271 Decreased proportion of gamma-delta T lymphocytes NOT_TRANSLATED -HP:0500271 Decreased proportion of gamma-delta T-cells NOT_TRANSLATED -HP:0500271 Decreased proportion of gamma-delta T-lymphocytes NOT_TRANSLATED -HP:0500271 Decreased proportion of gammadelta T cells NOT_TRANSLATED -HP:0500271 Reduced proportion of gamma-delta T cells NOT_TRANSLATED -HP:0500270 Elevated proportion of gamma-delta T cells NOT_TRANSLATED -HP:0500270 Increased proportion of gamma-delta T lymphocytes NOT_TRANSLATED -HP:0500270 Increased proportion of gamma-delta T-cells NOT_TRANSLATED -HP:0500270 Increased proportion of gamma-delta T-lymphocytes NOT_TRANSLATED -HP:0500270 Increased proportion of gammadelta T cells NOT_TRANSLATED -HP:0500269 Abnormal proportion of gamma-delta T-lymphocytes NOT_TRANSLATED -HP:0500269 Abnormal proportion of gammadelta T cells NOT_TRANSLATED -HP:0500269 Abnormal proprotion of gamma-delta T lymphocytes NOT_TRANSLATED -HP:0008749 Hypoplastic larynx NOT_TRANSLATED -HP:0500266 Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated NOT_TRANSLATED -HP:0500265 Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated NOT_TRANSLATED -HP:0008751 Laryngotracheal cleft NOT_TRANSLATED -HP:0008751 Laryngotracheoesophageal cleft i NOT_TRANSLATED -HP:0500264 Elevated helper T cell proportion NOT_TRANSLATED -HP:0500264 Increased proportion T-helper cells NOT_TRANSLATED -HP:0008752 Vocal impairment, severe, due to laryngeal cartilage abnormalities NOT_TRANSLATED -HP:0008753 Absent epiglottis NOT_TRANSLATED -HP:0008754 Laryngeal calcifications NOT_TRANSLATED -HP:0008757 Unilateral paralysis of the vocal cord NOT_TRANSLATED -HP:0500274 Decreased proportion of immature gamma-delta T lymphocytes NOT_TRANSLATED -HP:0500274 Decreased proportion of immature gamma-delta T-cells NOT_TRANSLATED -HP:0500274 Decreased proportion of immature gamma-delta T-lymphocytes NOT_TRANSLATED -HP:0500274 Reduced proportion of immature gamma-delta T cells NOT_TRANSLATED -HP:0500273 Elevated proportion of immature gamma-delta T cells NOT_TRANSLATED -HP:0500273 Increased proportion of immature gamma-delat T lymphocytes NOT_TRANSLATED -HP:0500273 Increased proportion of immature gamma-delta T-cells NOT_TRANSLATED -HP:0500273 Increased proportion of immature gamma-delta T-lymphocytes NOT_TRANSLATED -HP:0500272 Abnormal proportion of immature gamma-delta T lymphocytes NOT_TRANSLATED -HP:0500272 Abnormal proportion of immature gamma-delta T-cells NOT_TRANSLATED -HP:0500272 Abnormal proportion of immature gamma-delta T-lymphocytes NOT_TRANSLATED -HP:0008760 Violent behaviour NOT_TRANSLATED -HP:0008762 Repetitive compulsive behaviour NOT_TRANSLATED -HP:0008765 Hallucinations of sound NOT_TRANSLATED -HP:0008765 Hearing sounds NOT_TRANSLATED -HP:0008768 Inappropriate sexual behaviour NOT_TRANSLATED -HP:0008770 Obsessive-compulsive traits NOT_TRANSLATED -HP:0008771 Absent/small ear NOT_TRANSLATED -HP:0008771 Absent/underdeveloped ear NOT_TRANSLATED -HP:0008772 Absent/small external ear NOT_TRANSLATED -HP:0008772 Absent/underdeveloped external ear NOT_TRANSLATED -HP:0008773 Absent/small middle ear NOT_TRANSLATED -HP:0008773 Absent/underdeveloped middle ear NOT_TRANSLATED -HP:0008773 Hypoplastic/aplastic middle ear structures NOT_TRANSLATED -HP:0008773 Middle ear hypoplasia/aplasia NOT_TRANSLATED -HP:0008774 Absent/small inner ear NOT_TRANSLATED -HP:0008774 Absent/underdeveloped inner ear NOT_TRANSLATED -HP:0008775 Abnormality of the prostate NOT_TRANSLATED -HP:0008776 Abnormal kidney artery NOT_TRANSLATED -HP:0008776 Abnormality of the renal artery NOT_TRANSLATED -HP:0008777 Abnormality of the vocal cords NOT_TRANSLATED -HP:0008783 Wide metaphysis of innermost thighbone NOT_TRANSLATED -HP:0008784 Wide end part of innermost thighbone NOT_TRANSLATED -HP:0008786 Irregular lacy iliac crest NOT_TRANSLATED -HP:0008786 Lacy appearance of iliac crest NOT_TRANSLATED -HP:0008788 Absent pubic ossification in infancy NOT_TRANSLATED -HP:0008788 Delayed maturation fo pubic bone NOT_TRANSLATED -HP:0008788 Delayed mineralization of pubic bone NOT_TRANSLATED -HP:0008789 Cone-shaped end part of innermost thighbone NOT_TRANSLATED -HP:0008794 Dysplastic iliac wings NOT_TRANSLATED -HP:0008796 Decreased femoral torsion NOT_TRANSLATED -HP:0008796 Externally rotated hips NOT_TRANSLATED -HP:0008798 Widened sacrosciatic notch NOT_TRANSLATED -HP:0008798 Widening of the sacrosciatic notch NOT_TRANSLATED -HP:0008801 Lesser trochanter hypoplasia NOT_TRANSLATED -HP:0008802 Hypoplastic femoral head NOT_TRANSLATED -HP:0008802 Small femoral heads NOT_TRANSLATED -HP:0008802 Small head of thigh bone NOT_TRANSLATED -HP:0008804 Wide head of thigh bone NOT_TRANSLATED -HP:0008807 Dysplastic acetabulae NOT_TRANSLATED -HP:0008808 High iliac wings NOT_TRANSLATED -HP:0008808 Narrow, high iliac wings NOT_TRANSLATED -HP:0008812 Flat head of thigh bone NOT_TRANSLATED -HP:0008812 Flattened femoral heads NOT_TRANSLATED -HP:0008817 Absent pubic bones NOT_TRANSLATED -HP:0008818 Large iliac wings NOT_TRANSLATED -HP:0008819 Narrow femoral necks NOT_TRANSLATED -HP:0008819 Narrow neck of thigh bone NOT_TRANSLATED -HP:0008820 Absent ossification of femoral capital epiphyses NOT_TRANSLATED -HP:0008824 Hypoplastic iliac bodies NOT_TRANSLATED -HP:0008824 Small iliac bodies NOT_TRANSLATED -HP:0008826 Dislocated femoral heads NOT_TRANSLATED -HP:0008826 Dislocated head of thigh bone NOT_TRANSLATED -HP:0008828 Delayed ossification of the proximal femoral epiphysis NOT_TRANSLATED -HP:0008828 Delayed ossification proximal femoral epiphyses NOT_TRANSLATED -HP:0008829 Delayed maturation of the head of the thigh bone NOT_TRANSLATED -HP:0008838 Speckled calcifications in end part of innermost long bone of upper arm NOT_TRANSLATED -HP:0008839 Hypoplastic pelvic bones NOT_TRANSLATED -HP:0008839 Small pelvis NOT_TRANSLATED -HP:0008843 Osteoarthritis of hip NOT_TRANSLATED -HP:0008845 Dwarfism, short limb mesomelic NOT_TRANSLATED -HP:0008845 Mesomelic dwarfism NOT_TRANSLATED -HP:0008845 Short stature, disproportionate mesomelic NOT_TRANSLATED -HP:0008845 Short stature, mesomelic NOT_TRANSLATED -HP:0008846 Intrauterine growth retardation, severe NOT_TRANSLATED -HP:0008846 Severe prenatal growth deficiency NOT_TRANSLATED -HP:0008848 Moderate short stature NOT_TRANSLATED -HP:0008848 Short stature, moderate NOT_TRANSLATED -HP:0008850 Marked growth retardation NOT_TRANSLATED -HP:0008850 Severe growth delay in children NOT_TRANSLATED -HP:0008850 Severe postnatal growth deficiency NOT_TRANSLATED -HP:0008850 Severe postnatal growth failure NOT_TRANSLATED -HP:0008855 Moderate growth delay in children NOT_TRANSLATED -HP:0008857 Short-trunk dwarfism identifiable at birth NOT_TRANSLATED -HP:0008866 Faltering weight secondary to recurrent infections NOT_TRANSLATED -HP:0008866 Weight faltering secondary to recurrent infections NOT_TRANSLATED -HP:0008873 Brachymelic dwarfism NOT_TRANSLATED -HP:0008873 Disproportionate short limb dwarfism NOT_TRANSLATED -HP:0008873 Dwarfism, short-limbed NOT_TRANSLATED -HP:0008873 Micromelic dwarfism NOT_TRANSLATED -HP:0008873 Short limb dwarfism NOT_TRANSLATED -HP:0008873 Short limb dwarfism, disproportionate NOT_TRANSLATED -HP:0008873 Short stature, disproportionate short limb NOT_TRANSLATED -HP:0008873 Short stature, disproportionate short-limb NOT_TRANSLATED -HP:0008873 Short-limb dwarfism NOT_TRANSLATED -HP:0008873 Short-limbed dwarfism NOT_TRANSLATED -HP:0008883 Mild prenatal growth deficiency NOT_TRANSLATED -HP:0008887 Loss of fat tissue NOT_TRANSLATED -HP:0008897 Growth delay as children NOT_TRANSLATED -HP:0008897 Growth retardation as children NOT_TRANSLATED -HP:0008897 Postnatal growth deceleration NOT_TRANSLATED -HP:0008897 Postnatal growth deficiency NOT_TRANSLATED -HP:0008897 Postnatal growth failure NOT_TRANSLATED -HP:0008905 Disproportionately short upper portion of limb NOT_TRANSLATED -HP:0008905 Rhizomelic dwarfism NOT_TRANSLATED -HP:0008905 Rhizomelic limb shortening NOT_TRANSLATED -HP:0008905 Rhizomelic short limbs NOT_TRANSLATED -HP:0008905 Rhizomelic short stature NOT_TRANSLATED -HP:0008905 Rhizomelic shortening NOT_TRANSLATED -HP:0008905 Short stature, rhizomelic NOT_TRANSLATED -HP:0008905 Symmetrical rhizomelic limb shortening NOT_TRANSLATED -HP:0008909 Lethal micromelic dwarfism NOT_TRANSLATED -HP:0008909 Lethal short-limbed dwarfism NOT_TRANSLATED -HP:0008915 Truncal obesity apparent in childhood NOT_TRANSLATED -HP:0008921 Dwarfism, neonatal short-limbed NOT_TRANSLATED -HP:0008921 Neonatal short-limbed dwarfism NOT_TRANSLATED -HP:0008921 Short limb dwarfism recognisable at birth NOT_TRANSLATED -HP:0008921 Short limb dwarfism recognizable at birth NOT_TRANSLATED -HP:0008921 Short-limb dwarfism identifiable at birth NOT_TRANSLATED -HP:0008921 Short-limb dwarfism identifiable neonatally NOT_TRANSLATED -HP:0008921 Short-limbed dwarfism identifiable at birth NOT_TRANSLATED -HP:0008922 Disproportionate short-trunk short stature, identifiable in childhood NOT_TRANSLATED -HP:0008922 Short-trunk dwarfism identifiable during childhood NOT_TRANSLATED -HP:0008935 Generalised low muscle tone in neonate NOT_TRANSLATED -HP:0008935 Generalised neonatal hypotonia NOT_TRANSLATED -HP:0008935 Generalized low muscle tone in neonate NOT_TRANSLATED -HP:0008935 Hypotonia, neonatal, generalised NOT_TRANSLATED -HP:0008935 Hypotonia, neonatal, generalized NOT_TRANSLATED -HP:0008936 Low muscle tone in trunk NOT_TRANSLATED -HP:0008936 Muscular hypotonia of the trunk NOT_TRANSLATED -HP:0008936 Truncal hypotonia NOT_TRANSLATED -HP:0008940 Generalised lymphadenopathy NOT_TRANSLATED -HP:0008940 Generalised swelling of lymph nodes NOT_TRANSLATED -HP:0008940 Generalized swelling of lymph nodes NOT_TRANSLATED -HP:0008940 Swollen lymph nodes affecting all regions of the body NOT_TRANSLATED -HP:0008942 Rhabdomyolysis, acute NOT_TRANSLATED -HP:0008944 Lower leg amyotrophy NOT_TRANSLATED -HP:0008944 Lower limb atrophy NOT_TRANSLATED -HP:0008944 Lower limb degeneration NOT_TRANSLATED -HP:0008944 Lower limb muscle hypotrophy NOT_TRANSLATED -HP:0008944 Muscle atrophy, lower limb, distal NOT_TRANSLATED -HP:0008946 Hip girdle amyotrophy NOT_TRANSLATED -HP:0008947 Decreased muscle tone in infant NOT_TRANSLATED -HP:0008947 Hypotonia early NOT_TRANSLATED -HP:0008947 Hypotonia in infancy NOT_TRANSLATED -HP:0008947 Hypotonia, early NOT_TRANSLATED -HP:0008947 Infantile hypotonia NOT_TRANSLATED -HP:0008948 Proximal muscle atrophy in upper limbs NOT_TRANSLATED -HP:0008948 Proximal upper limb muscle atrophy NOT_TRANSLATED -HP:0008952 Underdeveloped shoulder muscle NOT_TRANSLATED -HP:0008953 Pectoralis major muscle hypoplasia NOT_TRANSLATED -HP:0008956 Amyotrophy involving the thigh NOT_TRANSLATED -HP:0008956 Amyotrophy of the thigh musculature NOT_TRANSLATED -HP:0008956 Proximal lower limb muscle atrophy NOT_TRANSLATED -HP:0008956 Thigh muscle atrophy NOT_TRANSLATED -HP:0008956 Wasting of thigh muscle NOT_TRANSLATED -HP:0008962 Hypoplastic calf muscles NOT_TRANSLATED -HP:0008962 Underdeveloped calf muscles NOT_TRANSLATED -HP:0008967 Muscle stiffness with exercise NOT_TRANSLATED -HP:0008967 Muscle stiffness, exercise-induced NOT_TRANSLATED -HP:0008972 Decreased activities of mitochondrial-encoded respiratory chain complexes NOT_TRANSLATED -HP:0008972 Decreased activity of mitochondrial respiratory complexes NOT_TRANSLATED -HP:0008981 Calf hypertrophy NOT_TRANSLATED -HP:0008981 Increased size of calf muscles NOT_TRANSLATED -HP:0008981 Muscular hypertrophy of the calf muscles NOT_TRANSLATED -HP:0008984 Decreased size of neck muscle NOT_TRANSLATED -HP:0008984 Deficiency of neck muscle NOT_TRANSLATED -HP:0008984 Hypotrophic neck muscle NOT_TRANSLATED -HP:0008984 Small neck muscle NOT_TRANSLATED -HP:0008984 Underdevelopment of neck muscle NOT_TRANSLATED -HP:0008985 Increased IM fat NOT_TRANSLATED -HP:0008986 Absent diaphragm NOT_TRANSLATED -HP:0008986 Agenesis of diaphragm NOT_TRANSLATED -HP:0008988 Pelvic girdle muscle wasting NOT_TRANSLATED -HP:0008994 Muscle weakness, proximal, lower limbs NOT_TRANSLATED -HP:0008998 Hypoplastic pectoral muscle NOT_TRANSLATED -HP:0008998 Small pec muscle NOT_TRANSLATED -HP:0008998 Underdeveloped pec muscle NOT_TRANSLATED -HP:0009002 Loss of fat tissue in trunk NOT_TRANSLATED -HP:0009002 Loss of subcutaneous truncal adipose tissue NOT_TRANSLATED -HP:0009002 Loss of truncal adipose tissue NOT_TRANSLATED -HP:0009003 Increased fat below the skin in trunk NOT_TRANSLATED -HP:0009004 Muscle hypoplasia NOT_TRANSLATED -HP:0009004 Poorly developed skeletal musculature NOT_TRANSLATED -HP:0009004 Underdeveloped muscle NOT_TRANSLATED -HP:0009004 Underdeveloped muscles NOT_TRANSLATED -HP:0009005 Intrinsic hand muscle weakness NOT_TRANSLATED -HP:0009007 Hypoplastic biceps NOT_TRANSLATED -HP:0009007 Underdeveloped biceps NOT_TRANSLATED -HP:0009016 Underdevelopment of upper limb muscles NOT_TRANSLATED -HP:0009017 Loss of fat tissue below the skin in gluts NOT_TRANSLATED -HP:0009019 Atrophy of facial adipose tissue NOT_TRANSLATED -HP:0009019 Facial fat atrophy NOT_TRANSLATED -HP:0009019 Facial fat wasting NOT_TRANSLATED -HP:0009019 Loss of subcutaneous adipose tissue from face, progressive NOT_TRANSLATED -HP:0009019 Progressive loss of facial fat NOT_TRANSLATED -HP:0009019 Progressive loss of facial subcutaneous adipose tissue NOT_TRANSLATED -HP:0009019 Progressive loss of subcutaneous adipose tissue from face NOT_TRANSLATED -HP:0009023 Lax abdominal musculature NOT_TRANSLATED -HP:0009027 Foot drop NOT_TRANSLATED -HP:0009027 Foot extensor weakness NOT_TRANSLATED -HP:0009027 Footdrop NOT_TRANSLATED -HP:0009027 Inability to heel walk NOT_TRANSLATED -HP:0009027 Inability to walk on heels NOT_TRANSLATED -HP:0009028 Generalised weakness of limb muscles NOT_TRANSLATED -HP:0009045 Rhabdomyolysis with exercise NOT_TRANSLATED -HP:0009049 Peroneal atrophy NOT_TRANSLATED -HP:0009050 Wasting of quad muscles NOT_TRANSLATED -HP:0009053 Distal muscle weakness in lower limbs NOT_TRANSLATED -HP:0009053 Muscle weakness, lower limb, distal NOT_TRANSLATED -HP:0009055 Generalised limb muscle atrophy NOT_TRANSLATED -HP:0009055 Generalised muscle atrophy, proximal and distal NOT_TRANSLATED -HP:0009055 Generalised muscle wasting NOT_TRANSLATED -HP:0009055 Generalized muscle atrophy, proximal and distal NOT_TRANSLATED -HP:0009055 Generalized muscle wasting NOT_TRANSLATED -HP:0009056 Loss of fat tissue below the skin from upper limbs NOT_TRANSLATED -HP:0009058 Fat accumulation in muscle fibers NOT_TRANSLATED -HP:0009058 Fat accumulation in muscle fibres NOT_TRANSLATED -HP:0009058 Fat deposits in muscle fibers NOT_TRANSLATED -HP:0009058 Fat deposits in muscle fibres NOT_TRANSLATED -HP:0009058 Lipid accumulation in skeletal muscle NOT_TRANSLATED -HP:0009058 Muscle lipidosis NOT_TRANSLATED -HP:0009058 Skeletal muscle lipid accumulation NOT_TRANSLATED -HP:0009059 Congenital generalised lipodystrophy NOT_TRANSLATED -HP:0009062 Hypotonia, axial, in infancy NOT_TRANSLATED -HP:0009063 Muscle weakness, distal, progressive NOT_TRANSLATED -HP:0009063 Muscle weakness, progressive, distal NOT_TRANSLATED -HP:0009064 Generalised lipodystrophy NOT_TRANSLATED -HP:0009064 Lipodystrophy, generalised NOT_TRANSLATED -HP:0009064 Lipodystrophy, generalized NOT_TRANSLATED -HP:0009067 Progressive spinal muscle degeneration NOT_TRANSLATED -HP:0009067 Progressive spinal muscle wasting NOT_TRANSLATED -HP:0009072 Hyporeflexia at ankle joints NOT_TRANSLATED -HP:0009073 Muscle weakness, progressive, proximal NOT_TRANSLATED -HP:0009084 Midline cleft of maxillary alveolar process NOT_TRANSLATED -HP:0009084 Midline cleft of upper alveolar ridge NOT_TRANSLATED -HP:0009084 Midline notch of maxillary alveolar process NOT_TRANSLATED -HP:0009084 Midline notch of maxillary alveolar ridge NOT_TRANSLATED -HP:0009084 Midline notch of upper gum ridge NOT_TRANSLATED -HP:0009085 Alveolar ridge excess NOT_TRANSLATED -HP:0009085 Enlarged alveolar ridge NOT_TRANSLATED -HP:0009085 Hyperplasia of alveolar process of jaw NOT_TRANSLATED -HP:0009085 Hyperplasia of alveolar ridge NOT_TRANSLATED -HP:0009085 Hypertrophied alveolar ridge NOT_TRANSLATED -HP:0009085 Increased size of alveolar ridge NOT_TRANSLATED -HP:0009085 Increased size of gum ridge NOT_TRANSLATED -HP:0009085 Overgrowth of alveolar ridge NOT_TRANSLATED -HP:0009085 Overgrowth of gum ridge NOT_TRANSLATED -HP:0009085 Thick alveolar ridges NOT_TRANSLATED -HP:0009085 Thickened alveolar ridges NOT_TRANSLATED -HP:0009092 Increasing overgrowth of gum ridge NOT_TRANSLATED -HP:0009092 Increasing size of gum ridge NOT_TRANSLATED -HP:0009092 Progressive hypertrophy of alveolar process of jaw NOT_TRANSLATED -HP:0009094 Cleft of lower alveolar process NOT_TRANSLATED -HP:0009094 Cleft of lower gingiva NOT_TRANSLATED -HP:0009094 Cleft of lower gum ridge NOT_TRANSLATED -HP:0009094 Cleft of mandibular alveolar process NOT_TRANSLATED -HP:0009094 Cleft of mandibular gingiva NOT_TRANSLATED -HP:0009094 Notch of lower alveolar process NOT_TRANSLATED -HP:0009094 Notch of lower alveolar ridge NOT_TRANSLATED -HP:0009094 Notch of lower gum ridge NOT_TRANSLATED -HP:0009094 Notch of mandibular alveolar process NOT_TRANSLATED -HP:0009094 Notch of mandibular alveolar ridge NOT_TRANSLATED -HP:0009098 Chronic oral thrush NOT_TRANSLATED -HP:0009099 Central cleft palate NOT_TRANSLATED -HP:0009099 Midline cleft palate NOT_TRANSLATED -HP:0009100 Thick anterior alveolar process of jaw NOT_TRANSLATED -HP:0009101 Submucous labial cleft NOT_TRANSLATED -HP:0009102 Absence of overlap of anterior upper and lower teeth NOT_TRANSLATED -HP:0009102 Anterior open bite NOT_TRANSLATED -HP:0009102 Anterior open bite between upper and lower teeth NOT_TRANSLATED -HP:0009102 Anterior openbite NOT_TRANSLATED -HP:0009102 AOB NOT_TRANSLATED -HP:0009102 Apertognathia malocclusion NOT_TRANSLATED -HP:0009102 Gap between upper and lower front teeth when biting NOT_TRANSLATED -HP:0009103 Absent/small pelvis NOT_TRANSLATED -HP:0009103 Absent/underdeveloped pelvis NOT_TRANSLATED -HP:0009104 Absent/small pubic bones NOT_TRANSLATED -HP:0009104 Absent/underdeveloped pubic bones NOT_TRANSLATED -HP:0009104 Hypoplastic/aplastic pubic bones NOT_TRANSLATED -HP:0009105 Abnormal maturation of the pubic bone NOT_TRANSLATED -HP:0009106 Abnormal maturation of the pelvis bone NOT_TRANSLATED -HP:0009106 Abnormal ossification involving the bones of the pelvis NOT_TRANSLATED -HP:0009107 Abnormal maturation of thigh bone head and neck NOT_TRANSLATED -HP:0009108 Absent/small head and neck of thighbone NOT_TRANSLATED -HP:0009108 Absent/underdeveloped head and neck of thighbone NOT_TRANSLATED -HP:0009110 Eventration of the diaphragm NOT_TRANSLATED -HP:0009112 Absent left hemidiaphragm NOT_TRANSLATED -HP:0009112 Left diaphragmatic hernia NOT_TRANSLATED -HP:0009113 Diaphragmatic paraparesis NOT_TRANSLATED -HP:0009113 Diminished diaphragmatic motion NOT_TRANSLATED -HP:0009113 Weak diaphragm NOT_TRANSLATED -HP:0009115 Absent/small skeleton NOT_TRANSLATED -HP:0009115 Absent/underdeveloped skeleton NOT_TRANSLATED -HP:0009117 Underdevelopment of maxilla NOT_TRANSLATED -HP:0009117 Underdevelopment of upper jaw bones NOT_TRANSLATED -HP:0009119 Abnormally small frontal sinus NOT_TRANSLATED -HP:0009121 Abnormality of the axial skeleton NOT_TRANSLATED -HP:0009124 Abnormality of adipose tissue NOT_TRANSLATED -HP:0009124 Abnormality of fat tissue NOT_TRANSLATED -HP:0009124 Abnormality of fatty tissue NOT_TRANSLATED -HP:0009125 Inability to make and keep healthy fat tissue NOT_TRANSLATED -HP:0009126 Increased fat tissue NOT_TRANSLATED -HP:0009127 Abnormal limb muscles NOT_TRANSLATED -HP:0009127 Muscle issues in the arms and/or legs NOT_TRANSLATED -HP:0009128 Absent/small muscles of extremities NOT_TRANSLATED -HP:0009128 Absent/underdeveloped muscles of extremities NOT_TRANSLATED -HP:0009129 Amyotrophy involving the upper limbs NOT_TRANSLATED -HP:0009130 Amyotrophy involving the musculature of the hand NOT_TRANSLATED -HP:0009130 Amyotrophy of hand muscles NOT_TRANSLATED -HP:0009130 Hand muscle degeneration NOT_TRANSLATED -HP:0009130 Hand muscle wasting NOT_TRANSLATED -HP:0009130 Hand muscle wasting, bilateral NOT_TRANSLATED -HP:0009132 Abnormality of bone mineral density involving tarsal bones NOT_TRANSLATED -HP:0009138 Fusion involving the bones of the lower limbs NOT_TRANSLATED -HP:0009140 Fusion involving the bones of the feet NOT_TRANSLATED -HP:0009141 Depletion of mitochondrial dna in skeletal muscle tissue NOT_TRANSLATED -HP:0009145 Abnormality of cerebral artery NOT_TRANSLATED -HP:0009145 Abnormality of the cerebral arteries NOT_TRANSLATED -HP:0009147 Enlarged end part of the outermost bone of little finger NOT_TRANSLATED -HP:0009147 Enlarged end part of the outermost bone of pinkie finger NOT_TRANSLATED -HP:0009147 Enlarged end part of the outermost bone of pinky finger NOT_TRANSLATED -HP:0009148 Small end part of the outermost bone of little finger NOT_TRANSLATED -HP:0009148 Small end part of the outermost bone of pinkie finger NOT_TRANSLATED -HP:0009148 Small end part of the outermost bone of pinky finger NOT_TRANSLATED -HP:0009149 Delta-shaped epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED -HP:0009149 Triangular end part of the outermost bone of little finger NOT_TRANSLATED -HP:0009149 Triangular end part of the outermost bone of pinkie finger NOT_TRANSLATED -HP:0009149 Triangular end part of the outermost bone of pinky finger NOT_TRANSLATED -HP:0009150 Abnormality of the innermost bone little finger NOT_TRANSLATED -HP:0009150 Abnormality of the innermost bone pinkie finger NOT_TRANSLATED -HP:0009150 Abnormality of the innermost bone pinky finger NOT_TRANSLATED -HP:0009152 Abnormality of end part of little finger bone NOT_TRANSLATED -HP:0009152 Abnormality of end part of pinkie finger bone NOT_TRANSLATED -HP:0009152 Abnormality of end part of pinky finger bone NOT_TRANSLATED -HP:0009153 Abnormality of end part of the innermost bone of little finger NOT_TRANSLATED -HP:0009153 Abnormality of end part of the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009153 Abnormality of end part of the innermost bone of pinky finger NOT_TRANSLATED -HP:0009154 Delta-shaped epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED -HP:0009154 Triangular end part of the innermost bone of little finger NOT_TRANSLATED -HP:0009154 Triangular end part of the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009154 Triangular end part of the innermost bone of pinky finger NOT_TRANSLATED -HP:0009155 Angel-shaped epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED -HP:0009155 Cone-shaped end part of the innermost bone of little finger NOT_TRANSLATED -HP:0009155 Cone-shaped end part of the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009155 Cone-shaped end part of the innermost bone of pinky finger NOT_TRANSLATED -HP:0009155 Cone-shaped epiphysis of the proximal phalanx of the little finger NOT_TRANSLATED -HP:0009157 Increased bone density of end part of the innermost bone of little finger NOT_TRANSLATED -HP:0009157 Increased bone density of end part of the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009157 Increased bone density of end part of the innermost bone of pinky finger NOT_TRANSLATED -HP:0009157 Ivory epiphysis of the proximal phalanx of the little finger NOT_TRANSLATED -HP:0009158 Enlarged end part of the innermost bone of little finger NOT_TRANSLATED -HP:0009158 Enlarged end part of the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009158 Enlarged end part of the innermost bone of pinky finger NOT_TRANSLATED -HP:0009159 Small end part of the innermost bone of little finger NOT_TRANSLATED -HP:0009159 Small end part of the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009159 Small end part of the innermost bone of pinky finger NOT_TRANSLATED -HP:0009160 Absent end part of the innermost bone of little finger NOT_TRANSLATED -HP:0009160 Absent end part of the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009160 Absent end part of the innermost bone of pinky finger NOT_TRANSLATED -HP:0009161 Absent/hypoplastic middle phalanx of 5th finger NOT_TRANSLATED -HP:0009161 Absent/small middle bone of pinky finger NOT_TRANSLATED -HP:0009161 Absent/underdeveloped middle bone of little finger NOT_TRANSLATED -HP:0009161 Absent/underdeveloped middle bone of pinkie finger NOT_TRANSLATED -HP:0009161 Absent/underdeveloped middle bone of pinky finger NOT_TRANSLATED -HP:0009162 Absent middle bone of little finger NOT_TRANSLATED -HP:0009162 Absent middle bone of pinkie finger NOT_TRANSLATED -HP:0009162 Absent middle bone of pinky finger NOT_TRANSLATED -HP:0009162 Aplasia of the middle phalanx of the 5th finger NOT_TRANSLATED -HP:0009164 Abnormal calcification of the wrist bones NOT_TRANSLATED -HP:0009164 Carpal calcifications NOT_TRANSLATED -HP:0009165 Speckled calcifications in end part of the outermost bone of little finger NOT_TRANSLATED -HP:0009165 Speckled calcifications in end part of the outermost bone of pinkie finger NOT_TRANSLATED -HP:0009165 Speckled calcifications in end part of the outermost bone of pinky finger NOT_TRANSLATED -HP:0009166 Fragmentation of end part of the outermost bone of little finger NOT_TRANSLATED -HP:0009166 Fragmentation of end part of the outermost bone of pinkie finger NOT_TRANSLATED -HP:0009166 Fragmentation of end part of the outermost bone of pinky finger NOT_TRANSLATED -HP:0009167 Irregular end part of the outermost bone of little finger NOT_TRANSLATED -HP:0009167 Irregular end part of the outermost bone of pinkie finger NOT_TRANSLATED -HP:0009167 Irregular end part of the outermost bone of pinky finger NOT_TRANSLATED -HP:0009168 Bullet-shaped middle little finger bone NOT_TRANSLATED -HP:0009168 Bullet-shaped middle pinkie finger bone NOT_TRANSLATED -HP:0009168 Bullet-shaped middle pinky finger bone NOT_TRANSLATED -HP:0009169 Broad middle bone of little finger NOT_TRANSLATED -HP:0009169 Broad middle bone of pinkie finger NOT_TRANSLATED -HP:0009169 Broad middle bone of pinky finger NOT_TRANSLATED -HP:0009169 Wide middle phalanx of the 5th finger NOT_TRANSLATED -HP:0009171 Triangular end part of the long bone of hand NOT_TRANSLATED -HP:0009172 Abnormal bones of 4th finger NOT_TRANSLATED -HP:0009172 Abnormality of the phalanges of the ring finger NOT_TRANSLATED -HP:0009173 Curved middle bone of little finger NOT_TRANSLATED -HP:0009173 Curved middle bone of pinkie finger NOT_TRANSLATED -HP:0009173 Curved middle bone of pinky finger NOT_TRANSLATED -HP:0009174 Abnormality of the end part of the ring finger NOT_TRANSLATED -HP:0009175 Uneven increase in bone density in the middle bone of the little finger NOT_TRANSLATED -HP:0009175 Uneven increase in bone density in the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009175 Uneven increase in bone density in the middle bone of the pinky finger NOT_TRANSLATED -HP:0009177 Fused innermost and middle bones of little finger NOT_TRANSLATED -HP:0009177 Fused innermost and middle bones of pinkie finger NOT_TRANSLATED -HP:0009177 Fused innermost and middle bones of pinky finger NOT_TRANSLATED -HP:0009177 Proximal 5th finger symphalangism NOT_TRANSLATED -HP:0009177 Proximal fifth finger symphalangism NOT_TRANSLATED -HP:0009177 Symphalangism of the proximal and middle phalanges of the 5th finger NOT_TRANSLATED -HP:0009178 Fused middle bones of little finger NOT_TRANSLATED -HP:0009178 Fused middle bones of pinkie finger NOT_TRANSLATED -HP:0009178 Fused middle bones of pinky finger NOT_TRANSLATED -HP:0009179 Displaced little finger NOT_TRANSLATED -HP:0009179 Displaced pinkie finger NOT_TRANSLATED -HP:0009179 Displaced pinky finger NOT_TRANSLATED -HP:0009179 Laterally displaced fifth finger NOT_TRANSLATED -HP:0009182 Triangular shaped middle little finger bone NOT_TRANSLATED -HP:0009182 Triangular shaped middle pinkie finger bone NOT_TRANSLATED -HP:0009182 Triangular shaped middle pinky finger bone NOT_TRANSLATED -HP:0009183 5th finger camptodactyly NOT_TRANSLATED -HP:0009183 Fifth finger camptodactyly NOT_TRANSLATED -HP:0009187 Bracket shaped end part of the outermost little finger bone NOT_TRANSLATED -HP:0009187 Bracket shaped end part of the outermost pinkie finger bone NOT_TRANSLATED -HP:0009187 Bracket shaped end part of the outermost pinky finger bone NOT_TRANSLATED -HP:0009189 Fragmentation of end part of the long bone of hand NOT_TRANSLATED -HP:0009190 Irregular end part of the long bone of hand NOT_TRANSLATED -HP:0009191 Increased bone density of end part of the long bone of hands NOT_TRANSLATED -HP:0009192 Absent/small innermost little finger bone NOT_TRANSLATED -HP:0009192 Absent/small innermost pinkie finger bone NOT_TRANSLATED -HP:0009192 Absent/small innermost pinky finger bone NOT_TRANSLATED -HP:0009192 Absent/underdeveloped innermost pinky finger bone NOT_TRANSLATED -HP:0009193 Accessory proximal metacarpal ossification centers NOT_TRANSLATED -HP:0009193 Accessory proximal metacarpal ossification centres NOT_TRANSLATED -HP:0009193 Metacarpal pseudoepiphyses NOT_TRANSLATED -HP:0009194 Small end part of the long bone of hand NOT_TRANSLATED -HP:0009195 Speckled calcifications in end part of the long bone of hand NOT_TRANSLATED -HP:0009195 Stippling of the epiphyses of the metacarpals NOT_TRANSLATED -HP:0009196 Absent end part of the long bone of hand NOT_TRANSLATED -HP:0009196 Absent metacarpal ossification center NOT_TRANSLATED -HP:0009196 Absent metacarpal ossification centre NOT_TRANSLATED -HP:0009197 Bracket shaped end part of the innermost bone of the little finger NOT_TRANSLATED -HP:0009197 Bracket shaped end part of the innermost bone of the pinkie finger NOT_TRANSLATED -HP:0009197 Bracket shaped end part of the innermost bone of the pinky finger NOT_TRANSLATED -HP:0009198 Abnormality of end part of the outermost bone of the little finger NOT_TRANSLATED -HP:0009198 Abnormality of end part of the outermost bone of the pinkie finger NOT_TRANSLATED -HP:0009198 Abnormality of end part of the outermost bone of the pinky finger NOT_TRANSLATED -HP:0009198 Abnormality of the epiphysis of the terminal phalanx of the little finger NOT_TRANSLATED -HP:0009199 Irregular end part of the innermost little finger bone NOT_TRANSLATED -HP:0009199 Irregular end part of the innermost pinkie finger bone NOT_TRANSLATED -HP:0009199 Irregular end part of the innermost pinky finger bone NOT_TRANSLATED -HP:0009201 Speckled calcifications in end part of the innnermost bone of the little finger NOT_TRANSLATED -HP:0009201 Speckled calcifications in end part of the innnermost bone of the pinkie finger NOT_TRANSLATED -HP:0009201 Speckled calcifications in end part of the innnermost bone of the pinky finger NOT_TRANSLATED -HP:0009202 Fragmentation of end part of the innermost bone of the little finger NOT_TRANSLATED -HP:0009202 Fragmentation of end part of the innermost bone of the pinkie finger NOT_TRANSLATED -HP:0009202 Fragmentation of end part of the innermost bone of the pinky finger NOT_TRANSLATED -HP:0009203 Absent end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009203 Absent end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009203 Absent end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009204 Bracket shaped end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009204 Bracket shaped end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009204 Bracket shaped end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009205 Cone-shaped end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009205 Cone-shaped end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009205 Cone-shaped end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009206 Enlarged end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009206 Enlarged end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009206 Enlarged end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009207 Fragmentation of end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009207 Fragmentation of end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009207 Fragmentation of end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009208 Irregular end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009208 Irregular end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009208 Irregular end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009209 Increased bone density of end part of the middle bone of little finger NOT_TRANSLATED -HP:0009209 Increased bone density of end part of the middle bone of pinkie finger NOT_TRANSLATED -HP:0009209 Increased bone density of end part of the middle bone of pinky finger NOT_TRANSLATED -HP:0009211 Small end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009211 Small end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009211 Small end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009212 Speckled calcifications in end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009212 Speckled calcifications in end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009212 Speckled calcifications in end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009213 Delta-shaped epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED -HP:0009213 Triangular end part of the middle bone of the little finger NOT_TRANSLATED -HP:0009213 Triangular end part of the middle bone of the pinkie finger NOT_TRANSLATED -HP:0009213 Triangular end part of the middle bone of the pinky finger NOT_TRANSLATED -HP:0009214 Absent end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009215 Bracket shaped end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009216 Cone-shaped end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009217 Enlarged end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009218 Fragmentation of end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009219 Irregular end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009220 Increased bone density of end part of the middle ring finger bone NOT_TRANSLATED -HP:0009222 Small end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009223 Speckled calcifications in end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009224 Delta-shaped epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED -HP:0009224 Triangular end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009225 Absent innermost bone of little finger NOT_TRANSLATED -HP:0009225 Absent innermost bone of pinkie finger NOT_TRANSLATED -HP:0009225 Absent innermost bone of pinky finger NOT_TRANSLATED -HP:0009226 Hypoplastic/small proximal phalanx of the 5th finger NOT_TRANSLATED -HP:0009226 Short innermost little finger bone NOT_TRANSLATED -HP:0009226 Short innermost pinkie finger bone NOT_TRANSLATED -HP:0009226 Short innermost pinky finger bone NOT_TRANSLATED -HP:0009226 Short proximal phalanx of the fifth finger NOT_TRANSLATED -HP:0009227 Broad innermost little finger bone NOT_TRANSLATED -HP:0009227 Broad innermost pinkie finger bone NOT_TRANSLATED -HP:0009227 Broad innermost pinky finger bone NOT_TRANSLATED -HP:0009227 Wide proximal phalanx of the 5th finger NOT_TRANSLATED -HP:0009228 Bullet-shaped innermost little finger bone NOT_TRANSLATED -HP:0009228 Bullet-shaped innermost pinkie finger bone NOT_TRANSLATED -HP:0009228 Bullet-shaped innermost pinky finger bone NOT_TRANSLATED -HP:0009229 Curved innermost bone of little finger NOT_TRANSLATED -HP:0009229 Curved innermost bone of pinkie finger NOT_TRANSLATED -HP:0009229 Curved innermost bone of pinky finger NOT_TRANSLATED -HP:0009231 Uneven increase in bone density in the innermost bone of little finger NOT_TRANSLATED -HP:0009231 Uneven increase in bone density in the innermost bone of pinkie finger NOT_TRANSLATED -HP:0009231 Uneven increase in bone density in the innermost bone of pinky finger NOT_TRANSLATED -HP:0009232 Fused innermost bone of little finger NOT_TRANSLATED -HP:0009232 Fused innermost bone of pinkie finger NOT_TRANSLATED -HP:0009232 Fused innermost bone of pinky finger NOT_TRANSLATED -HP:0009233 Triangular shaped innermost little finger bone NOT_TRANSLATED -HP:0009233 Triangular shaped innermost pinkie finger bone NOT_TRANSLATED -HP:0009233 Triangular shaped innermost pinky finger bone NOT_TRANSLATED -HP:0009234 Fused innermost bone of little finger with 5th long bone of hand NOT_TRANSLATED -HP:0009234 Fused innermost bone of pinkie finger with 5th long bone of hand NOT_TRANSLATED -HP:0009234 Fused innermost bone of pinky finger with 5th long bone of hand NOT_TRANSLATED -HP:0009236 Rhomboid or triangular shaped innermost bone of little finger NOT_TRANSLATED -HP:0009236 Rhomboid or triangular shaped innermost bone of pinkie finger NOT_TRANSLATED -HP:0009236 Rhomboid or triangular shaped innermost bone of pinky finger NOT_TRANSLATED -HP:0009237 Fifth finger brachydactyly NOT_TRANSLATED -HP:0009237 Hypoplastic phalanges of the little finger NOT_TRANSLATED -HP:0009237 Hypoplastic/small 5th finger NOT_TRANSLATED -HP:0009237 Hypoplastic/small little finger NOT_TRANSLATED -HP:0009237 Short fifth finger NOT_TRANSLATED -HP:0009237 Short fifth fingers NOT_TRANSLATED -HP:0009237 Short little finger NOT_TRANSLATED -HP:0009237 Short phalanges of the little finger NOT_TRANSLATED -HP:0009237 Short pinkie finger NOT_TRANSLATED -HP:0009237 Short pinky finger NOT_TRANSLATED -HP:0009238 Absent little finger NOT_TRANSLATED -HP:0009238 Absent pinkie finger NOT_TRANSLATED -HP:0009238 Absent pinky finger NOT_TRANSLATED -HP:0009239 Absent/small outermost bone of little finger NOT_TRANSLATED -HP:0009239 Absent/small outermost bone of pinkie finger NOT_TRANSLATED -HP:0009239 Absent/small outermost bone of pinky finger NOT_TRANSLATED -HP:0009239 Absent/underdeveloped outermost bone of pinky finger NOT_TRANSLATED -HP:0009240 Broad outermost little finger bone NOT_TRANSLATED -HP:0009240 Broad outermost pinkie finger bone NOT_TRANSLATED -HP:0009240 Broad outermost pinky finger bone NOT_TRANSLATED -HP:0009240 Wide outermost pinky finger bone NOT_TRANSLATED -HP:0009241 Bullet-shaped outermost little finger bone NOT_TRANSLATED -HP:0009241 Bullet-shaped outermost pinkie finger bone NOT_TRANSLATED -HP:0009241 Bullet-shaped outermost pinky finger bone NOT_TRANSLATED -HP:0009243 Uneven increase in bone density in the outermost bone of little finger NOT_TRANSLATED -HP:0009243 Uneven increase in bone density in the outermost bone of pinkie finger NOT_TRANSLATED -HP:0009243 Uneven increase in bone density in the outermost bone of pinky finger NOT_TRANSLATED -HP:0009244 Fifth finger distal interphalangeal joint symphalangism NOT_TRANSLATED -HP:0009244 Fused end and middle bones of little finger NOT_TRANSLATED -HP:0009244 Fused end and middle bones of pinkie finger NOT_TRANSLATED -HP:0009244 Fused end and middle bones of pinky finger NOT_TRANSLATED -HP:0009244 Fusion of the terminal and middle phalanges of the 5th finger NOT_TRANSLATED -HP:0009244 Symphalangism of the distal and middle phalanges of the 5th finger NOT_TRANSLATED -HP:0009244 Symphalangism of the terminal and middle phalanges of the 5th finger NOT_TRANSLATED -HP:0009245 Triangular shaped outermost little finger bone NOT_TRANSLATED -HP:0009245 Triangular shaped outermost pinkie finger bone NOT_TRANSLATED -HP:0009245 Triangular shaped outermost pinky finger bone NOT_TRANSLATED -HP:0009246 Absent outermost little finger bone NOT_TRANSLATED -HP:0009246 Absent outermost pinkie finger bone NOT_TRANSLATED -HP:0009246 Absent outermost pinky finger bone NOT_TRANSLATED -HP:0009247 Abnormality of the end part of the middle bone of the ring finger NOT_TRANSLATED -HP:0009248 Abnormality of the end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009249 Abnormality of the end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009250 Absent end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009251 Bracket shaped end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009252 Cone-shaped end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009253 Enlarged end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009254 Fragmentation of end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009255 Irregular end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009256 Increased bone density of end part of the outermost ring finger bone NOT_TRANSLATED -HP:0009258 Small end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009259 Speckled calcifications in the end part of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009260 Delta-shaped epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED -HP:0009260 Triangular end part of the outermost bone of ring finger NOT_TRANSLATED -HP:0009261 Absent end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009262 Bracket proximal epiphysis of the ring finger NOT_TRANSLATED -HP:0009262 Bracket shaped end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009263 Cone-shaped end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009264 Enlarged end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009265 Fragmentation of end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009266 Irregular end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009267 Increased bone density of end part of the innermost ring finger bone NOT_TRANSLATED -HP:0009269 Small end part of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009270 Speckled calcifications in end part of the innermost bone of ring finger NOT_TRANSLATED -HP:0009271 Delta-shaped epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED -HP:0009271 Triangular end part of the innermost bone of ring finger NOT_TRANSLATED -HP:0009272 Absent/small ring finger bone NOT_TRANSLATED -HP:0009272 Absent/underdeveloped ring finger bone NOT_TRANSLATED -HP:0009273 Deviation of the ring finger NOT_TRANSLATED -HP:0009274 Joint contractures of the fourth finger NOT_TRANSLATED -HP:0009276 4th finger camptodactyly NOT_TRANSLATED -HP:0009276 Camptodactyly of the 4th finger NOT_TRANSLATED -HP:0009276 Camptodactyly of the ring finger NOT_TRANSLATED -HP:0009278 Ulnar deviation of the ring finger NOT_TRANSLATED -HP:0009279 Radial deviation of the ring finger NOT_TRANSLATED -HP:0009280 Hypoplastic/small 4th finger NOT_TRANSLATED -HP:0009280 Short ring finger NOT_TRANSLATED -HP:0009281 Absent ring finger NOT_TRANSLATED -HP:0009282 Abnormality of the outermost bone of ring finger NOT_TRANSLATED -HP:0009283 Abnormal middle bone of ring finger NOT_TRANSLATED -HP:0009283 Abnormality of the middle phalanx of the ring finger NOT_TRANSLATED -HP:0009284 Abnormal innermost bone of ring finger NOT_TRANSLATED -HP:0009284 Abnormality of the proximal phalanx of the ring finger NOT_TRANSLATED -HP:0009285 Curved ring finger bone NOT_TRANSLATED -HP:0009286 Curved outermost ring finger bone NOT_TRANSLATED -HP:0009287 Curved middle ring finger bone NOT_TRANSLATED -HP:0009288 Curved innermost ring finger bone NOT_TRANSLATED -HP:0009289 Absent/small outermost ring finger bone NOT_TRANSLATED -HP:0009289 Absent/underdeveloped outermost ring finger bone NOT_TRANSLATED -HP:0009290 Hypoplastic/small distal phalanx of the 4th finger NOT_TRANSLATED -HP:0009290 Short distal phalanx of the fourth finger NOT_TRANSLATED -HP:0009290 Short outermost bone of ring finger NOT_TRANSLATED -HP:0009291 Absent outermost bone of ring finger NOT_TRANSLATED -HP:0009292 Broad outermost bone of ring finger NOT_TRANSLATED -HP:0009292 Wide outermost bone of ring finger NOT_TRANSLATED -HP:0009293 Broad middle bone of the 4th finger NOT_TRANSLATED -HP:0009294 Absent middle bone of 4th finger NOT_TRANSLATED -HP:0009294 Aplasia of the middle phalanx of the 4th finger NOT_TRANSLATED -HP:0009295 Brachymesophalangy IV (finger) NOT_TRANSLATED -HP:0009295 Hypoplastic/small middle phalanx of ring finger NOT_TRANSLATED -HP:0009295 Hypoplastic/small middle phalanx of the 4th finger NOT_TRANSLATED -HP:0009295 Short middle bone of 4th finger NOT_TRANSLATED -HP:0009295 Short middle phalanx of ring finger NOT_TRANSLATED -HP:0009296 Bullet-shaped middle bone of the 4th finger NOT_TRANSLATED -HP:0009298 Absent innermost ring finger bone NOT_TRANSLATED -HP:0009299 Absent/small middle ring finger bone NOT_TRANSLATED -HP:0009299 Absent/underdeveloped middle ring finger bone NOT_TRANSLATED -HP:0009300 Absent/small innermost ring finger bone NOT_TRANSLATED -HP:0009300 Absent/underdeveloped innermost ring finger bone NOT_TRANSLATED -HP:0009301 Hypoplastic/small proximal phalanx of the 4th finger NOT_TRANSLATED -HP:0009301 Short innermost bone of the ring finger NOT_TRANSLATED -HP:0009301 Short proximal phalanx of the fourth finger NOT_TRANSLATED -HP:0009302 Bullet-shaped outermost bone of ring finger NOT_TRANSLATED -HP:0009304 Uneven increase in bone density in the outermost bone of the ring finger NOT_TRANSLATED -HP:0009305 Fused outermost and middle bones of ring finger NOT_TRANSLATED -HP:0009305 Symphalangism of the distal and middle phalanges of the 4th finger NOT_TRANSLATED -HP:0009306 Triangular shaped outermost bone of the ring finger NOT_TRANSLATED -HP:0009307 Uneven increase in bone density in the middle bone of the ring finger NOT_TRANSLATED -HP:0009308 Fused middle bone of ring finger NOT_TRANSLATED -HP:0009309 Triangular shaped middle bone of the ring finger NOT_TRANSLATED -HP:0009310 Broad innermost ring finger bone NOT_TRANSLATED -HP:0009311 Bullet-shaped innermost ring finger bone NOT_TRANSLATED -HP:0009313 Uneven increase in bone density in the innermost bone of the ring finger NOT_TRANSLATED -HP:0009314 Fused innermost bone of ring finger NOT_TRANSLATED -HP:0009315 Triangular shaped innermost bone of the 4th finger NOT_TRANSLATED -HP:0009315 Triangular shaped innermost bone of the ring finger NOT_TRANSLATED -HP:0009316 Abnormality of 3rd finger phalanges NOT_TRANSLATED -HP:0009316 Abnormality of middle finger phalanges NOT_TRANSLATED -HP:0009316 Abnormality of the middle finger bones NOT_TRANSLATED -HP:0009316 Abnormality of the phalanges of the 3rd finger NOT_TRANSLATED -HP:0009317 Deviated middle finger NOT_TRANSLATED -HP:0009318 Absent/small middle finger NOT_TRANSLATED -HP:0009318 Absent/underdeveloped middle finger NOT_TRANSLATED -HP:0009319 Camptodactyly of middle finger NOT_TRANSLATED -HP:0009320 Abnormality of end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009321 Absent end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009322 Bracket shaped end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009323 Cone-shaped end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009324 Enlarged end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009325 Fragmentation of end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009326 Irregular end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009327 Increased bone density of end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009328 Pseudoepiphyses of middle phalanx of middle-finger NOT_TRANSLATED -HP:0009329 Small end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009330 Speckled calcifications in end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009331 Delta-shaped epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED -HP:0009331 Triangular end part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009332 Abnormality of the end part of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009333 Abnormality of the end part of the innermost bone of the middle finger NOT_TRANSLATED -HP:0009334 Abnormality of the middle part of the middle bone of the middle finger NOT_TRANSLATED -HP:0009335 Absent end part of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009336 Bracket shaped end part of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009337 Cone-shaped end part of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009338 Enlarged end part of the outermost bone of the 3rd finger NOT_TRANSLATED -HP:0009339 Fragmentation of end part of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009340 Irregular end part of the outermost long bone of the middle finger NOT_TRANSLATED -HP:0009341 Increased bone density of end part of the outermost middle finger bone NOT_TRANSLATED -HP:0009342 Pseudoepiphysis of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009343 Small end part of the outermost long bone of the middle finger NOT_TRANSLATED -HP:0009344 Speckled calcifications in end part of the outermost long bone of the middle finger NOT_TRANSLATED -HP:0009345 Delta-shaped epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED -HP:0009345 Triangular end part of the outermost long bone of the middle finger NOT_TRANSLATED -HP:0009346 Absent end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009347 Bracket shaped end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009348 Cone-shaped end part of the innermost bone of the middle finger NOT_TRANSLATED -HP:0009349 Enlarged end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009349 Large epiphysis of proximal middle-finger phalanx NOT_TRANSLATED -HP:0009350 Fragmentation of end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009351 Irregular end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009352 Increased bone density of end part of the innermost middle finger bone NOT_TRANSLATED -HP:0009354 Small end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009355 Speckled calcifications in end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009356 Delta-shaped epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED -HP:0009356 Triangular end part of innermost long bone of the middle finger NOT_TRANSLATED -HP:0009357 Abnormality of terminal phalanx of middle-finger NOT_TRANSLATED -HP:0009357 Abnormality of the outermost bone of the 3rd finger NOT_TRANSLATED -HP:0009358 Abnormal innermost bone of middle finger NOT_TRANSLATED -HP:0009358 Abnormality of proximal middle-finger phalanx NOT_TRANSLATED -HP:0009372 Short index fingers and second toes NOT_TRANSLATED -HP:0009374 Broad little finger bones NOT_TRANSLATED -HP:0009374 Broad pinkie finger bones NOT_TRANSLATED -HP:0009374 Broad pinky finger bones NOT_TRANSLATED -HP:0009375 Bullet-shaped little finger bones NOT_TRANSLATED -HP:0009375 Bullet-shaped pinkie finger bones NOT_TRANSLATED -HP:0009375 Bullet-shaped pinky finger bones NOT_TRANSLATED -HP:0009376 Absent/small little finger bones NOT_TRANSLATED -HP:0009376 Absent/small pinkie finger bones NOT_TRANSLATED -HP:0009376 Absent/small pinky finger bones NOT_TRANSLATED -HP:0009376 Absent/underdeveloped pinky finger bones NOT_TRANSLATED -HP:0009377 Patchy sclerosis of the phalanges of the 5th finger NOT_TRANSLATED -HP:0009377 Uneven increase in bone density in little finger bone NOT_TRANSLATED -HP:0009377 Uneven increase in bone density in pinkie finger bone NOT_TRANSLATED -HP:0009377 Uneven increase in bone density in pinky finger bone NOT_TRANSLATED -HP:0009378 Triangular shaped little finger bones NOT_TRANSLATED -HP:0009378 Triangular shaped pinkie finger bones NOT_TRANSLATED -HP:0009378 Triangular shaped pinky finger bones NOT_TRANSLATED -HP:0009379 Rhomboid or triangular shaped little finger bone NOT_TRANSLATED -HP:0009379 Rhomboid or triangular shaped pinkie finger bone NOT_TRANSLATED -HP:0009379 Rhomboid or triangular shaped pinky finger bone NOT_TRANSLATED -HP:0009380 Absent fingers NOT_TRANSLATED -HP:0009381 Hypoplastic digits NOT_TRANSLATED -HP:0009381 Hypoplastic fingers NOT_TRANSLATED -HP:0009381 Hypoplastic/small fingers NOT_TRANSLATED -HP:0009381 Stubby finger NOT_TRANSLATED -HP:0009381 Stubby fingers NOT_TRANSLATED -HP:0009382 Absent end part of little finger bone NOT_TRANSLATED -HP:0009382 Absent end part of pinkie finger bone NOT_TRANSLATED -HP:0009382 Absent end part of pinky finger bone NOT_TRANSLATED -HP:0009383 Bracket shaped end part of little finger bone NOT_TRANSLATED -HP:0009383 Bracket shaped end part of pinkie finger bone NOT_TRANSLATED -HP:0009383 Bracket shaped end part of pinky finger bone NOT_TRANSLATED -HP:0009384 Cone-shaped end part of the little finger bones NOT_TRANSLATED -HP:0009384 Cone-shaped end part of the pinkie finger bones NOT_TRANSLATED -HP:0009384 Cone-shaped end part of the pinky finger bones NOT_TRANSLATED -HP:0009385 Enlarged end part of the little finger bones NOT_TRANSLATED -HP:0009385 Enlarged end part of the pinkie finger bones NOT_TRANSLATED -HP:0009385 Enlarged end part of the pinky finger bones NOT_TRANSLATED -HP:0009386 Fragmentation of the end part of the little finger bones NOT_TRANSLATED -HP:0009386 Fragmentation of the end part of the pinkie finger bones NOT_TRANSLATED -HP:0009386 Fragmentation of the end part of the pinky finger bones NOT_TRANSLATED -HP:0009387 Irregular end part of the little finger bones NOT_TRANSLATED -HP:0009387 Irregular end part of the pinkie finger bones NOT_TRANSLATED -HP:0009387 Irregular end part of the pinky finger bones NOT_TRANSLATED -HP:0009388 Increased bone density of end part of the little finger NOT_TRANSLATED -HP:0009388 Increased bone density of end part of the pinkie finger NOT_TRANSLATED -HP:0009388 Increased bone density of end part of the pinky finger NOT_TRANSLATED -HP:0009390 Small end part of little finger bone NOT_TRANSLATED -HP:0009390 Small end part of pinkie finger bone NOT_TRANSLATED -HP:0009390 Small end part of pinky finger bone NOT_TRANSLATED -HP:0009391 Speckled calcifications in end part of little finger bone NOT_TRANSLATED -HP:0009391 Speckled calcifications in end part of pinkie finger bone NOT_TRANSLATED -HP:0009391 Speckled calcifications in end part of pinky finger bone NOT_TRANSLATED -HP:0009392 Delta-shaped epiphyses of the 5th finger NOT_TRANSLATED -HP:0009392 Triangular end part of the little finger NOT_TRANSLATED -HP:0009392 Triangular end part of the pinkie finger NOT_TRANSLATED -HP:0009392 Triangular end part of the pinky finger NOT_TRANSLATED -HP:0009393 Absent end part of the ring finger bone NOT_TRANSLATED -HP:0009394 Bracket shaped end part of ring finger bones NOT_TRANSLATED -HP:0009395 Cone-shaped end part of the ring finger bones NOT_TRANSLATED -HP:0009396 Enlarged end part of the ring finger bones NOT_TRANSLATED -HP:0009397 Fragmentation of the end part of the ring finger bones NOT_TRANSLATED -HP:0009398 Irregular end part of the ring finger bones NOT_TRANSLATED -HP:0009399 Increased bone density of end part of the ring finger bone NOT_TRANSLATED -HP:0009401 Small end part of ring finger bone NOT_TRANSLATED -HP:0009402 Speckled calcifications in end part of ring finger bone NOT_TRANSLATED -HP:0009403 Delta-shaped epiphyses of the 4th finger NOT_TRANSLATED -HP:0009403 Triangular end part of ring finger bone NOT_TRANSLATED -HP:0009404 Broad bones of ring finger NOT_TRANSLATED -HP:0009405 Bullet-shaped of bone of ring finger NOT_TRANSLATED -HP:0009406 Patchy sclerosis of the phalanges of the 4th finger NOT_TRANSLATED -HP:0009406 Uneven increase in bone density in ring finger bone NOT_TRANSLATED -HP:0009407 Triangular shaped bone of ring finger NOT_TRANSLATED -HP:0009408 Absent/small ring finger bones NOT_TRANSLATED -HP:0009408 Absent/underdeveloped ring finger bones NOT_TRANSLATED -HP:0009410 Absent end part of middle finger bone NOT_TRANSLATED -HP:0009411 Bracket shaped end part of middle finger bone NOT_TRANSLATED -HP:0009412 Cone-shaped end part of middle finger bone NOT_TRANSLATED -HP:0009413 Enlarged end part of middle finger bone NOT_TRANSLATED -HP:0009414 Fragmentation of end part of middle finger bone NOT_TRANSLATED -HP:0009415 Irregular end part of middle finger bone NOT_TRANSLATED -HP:0009416 Increased bone density of end part of the middle finger bone NOT_TRANSLATED -HP:0009417 Pseudoepiphyses of middle finger phalanges NOT_TRANSLATED -HP:0009418 Small end part of middle finger bone NOT_TRANSLATED -HP:0009419 Speckled calcifications in end part of middle finger bone NOT_TRANSLATED -HP:0009420 Delta-shaped epiphyses of the 3rd finger NOT_TRANSLATED -HP:0009420 Triangular end part of middle finger bone NOT_TRANSLATED -HP:0009421 Absent/small outermost middle finger bone NOT_TRANSLATED -HP:0009421 Absent/underdeveloped outermost middle finger bone NOT_TRANSLATED -HP:0009422 Broad outermost bone of middle finger NOT_TRANSLATED -HP:0009423 Bullet-shaped outermost bone of the middle finger NOT_TRANSLATED -HP:0009424 Lytic defect of terminal phalanx of middle finger NOT_TRANSLATED -HP:0009425 Uneven increase in bone density in the outermost bone of the 3rd finger NOT_TRANSLATED -HP:0009426 Fused outermost and middle bones of middle finger NOT_TRANSLATED -HP:0009426 Symphalangism of the distal and middle phalanges of the 3rd finger NOT_TRANSLATED -HP:0009427 Triangular shaped outermost bone of the middle finger NOT_TRANSLATED -HP:0009428 Curved outermost bone of the 3rd finger NOT_TRANSLATED -HP:0009429 Absent of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009430 Broad middle bone of middle finger NOT_TRANSLATED -HP:0009430 Wide/broad middle phalanx of middle-finger NOT_TRANSLATED -HP:0009431 Bullet-shaped middle bone of middle finger NOT_TRANSLATED -HP:0009432 Curved middle bone of the middle finger NOT_TRANSLATED -HP:0009434 Uneven increase in bone density in the middle bone of the middle finger NOT_TRANSLATED -HP:0009435 Fused middle bone of middle finger NOT_TRANSLATED -HP:0009436 Triangular shaped middle bone of the middle finger NOT_TRANSLATED -HP:0009437 Absent/small middle bone of the middle finger NOT_TRANSLATED -HP:0009437 Absent/underdeveloped middle bone of the middle finger NOT_TRANSLATED -HP:0009438 Absent middle bone of middle finger NOT_TRANSLATED -HP:0009438 Absent middle phalanx of middle finger NOT_TRANSLATED -HP:0009438 Aplasia of the middle phalanx of the 3rd finger NOT_TRANSLATED -HP:0009439 Brachymesophalangy III (finger) NOT_TRANSLATED -HP:0009439 Hypoplastic/small middle phalanx of the 3rd finger NOT_TRANSLATED -HP:0009439 Short middle bone of middle finger NOT_TRANSLATED -HP:0009440 Wide bones of middle finger NOT_TRANSLATED -HP:0009440 Wide/broad middle finger phalanges NOT_TRANSLATED -HP:0009441 Bullet-shaped bones of middle finger NOT_TRANSLATED -HP:0009442 Curved bones of middle finger NOT_TRANSLATED -HP:0009443 Lytic defects of middle finger phalanges NOT_TRANSLATED -HP:0009444 Patchy sclerosis of middle finger phalanges NOT_TRANSLATED -HP:0009444 Patchy sclerosis of the phalanges of the 3rd finger NOT_TRANSLATED -HP:0009444 Uneven increase in bone density in middle finger bone NOT_TRANSLATED -HP:0009445 Fused middle finger NOT_TRANSLATED -HP:0009446 Triangular shaped bone of the middle finger NOT_TRANSLATED -HP:0009447 Absent/small middle finger bone NOT_TRANSLATED -HP:0009447 Absent/underdeveloped middle finger bone NOT_TRANSLATED -HP:0009447 Hypoplastic middle finger phalanges NOT_TRANSLATED -HP:0009447 Short middle finger phalanges NOT_TRANSLATED -HP:0009447 Small middle finger phalanges NOT_TRANSLATED -HP:0009450 Broad innermost bone of middle finger NOT_TRANSLATED -HP:0009451 Bullet-shaped innermost bone of the middle finger NOT_TRANSLATED -HP:0009452 Curved innermost bone of middle finger NOT_TRANSLATED -HP:0009454 Uneven increase in bone density in the innermost bone of the middle finger NOT_TRANSLATED -HP:0009455 Fused innermost bone of middle finger NOT_TRANSLATED -HP:0009456 Triangular shaped innermost bone of middle finger NOT_TRANSLATED -HP:0009457 Absent/small innermost bone of middle finger NOT_TRANSLATED -HP:0009457 Absent/underdeveloped innermost bone of middle finger NOT_TRANSLATED -HP:0009458 Absent innermost bone of middle finger NOT_TRANSLATED -HP:0009459 Hypoplastic/small proximal phalanx of the 3rd finger NOT_TRANSLATED -HP:0009459 Short innermost bone of middle finger NOT_TRANSLATED -HP:0009459 Short proximal middle-finger phalanx NOT_TRANSLATED -HP:0009459 Short proximal phalanx of the third finger NOT_TRANSLATED -HP:0009459 Small proximal middle-finger phalanx NOT_TRANSLATED -HP:0009460 Absent middle finger NOT_TRANSLATED -HP:0009461 Hypoplastic/small 3rd finger NOT_TRANSLATED -HP:0009461 Short middle finger NOT_TRANSLATED -HP:0009462 Inward turned middle finger NOT_TRANSLATED -HP:0009463 Ulnar deviation of middle fingers NOT_TRANSLATED -HP:0009464 Medially deviated index finger NOT_TRANSLATED -HP:0009464 Second finger ulnar deviation NOT_TRANSLATED -HP:0009464 Ulnar angulation of the index finger NOT_TRANSLATED -HP:0009464 Ulnar deviation of index fingers NOT_TRANSLATED -HP:0009465 Finger bends toward pinky NOT_TRANSLATED -HP:0009465 Ulnar Drift NOT_TRANSLATED -HP:0009466 Radially deviated fingers NOT_TRANSLATED -HP:0009466 Radially deviated phalanges NOT_TRANSLATED -HP:0009467 Radially deviated index finger NOT_TRANSLATED -HP:0009468 Deviated index finger NOT_TRANSLATED -HP:0009468 Displaced index finger NOT_TRANSLATED -HP:0009469 Contracture of the outermost hinge joint of the 3rd finger NOT_TRANSLATED -HP:0009471 Camptodactyly of the 3rd finger NOT_TRANSLATED -HP:0009471 Camptodactyly of the third finger NOT_TRANSLATED -HP:0009473 Contractures involving the hands NOT_TRANSLATED -HP:0009473 Contractures of the hands NOT_TRANSLATED -HP:0009477 Fused innermost and middle bone of fourth finger NOT_TRANSLATED -HP:0009478 Fused innermost bone of ring finger with 4th long bone of hand NOT_TRANSLATED -HP:0009482 Fused of innermost and middle bones of middle finger NOT_TRANSLATED -HP:0009483 Fused innermost bones of middle finger with middle long bone of hand NOT_TRANSLATED -HP:0009484 Displaced hand or fingers of the hand NOT_TRANSLATED -HP:0009486 Radial deviation of hands NOT_TRANSLATED -HP:0009487 Ulnar deviation of hands NOT_TRANSLATED -HP:0009487 Ulnar deviation of the hands NOT_TRANSLATED -HP:0009488 Absent end part of index finger NOT_TRANSLATED -HP:0009489 Bracket shaped end part of index finger NOT_TRANSLATED -HP:0009489 Bracket-epiphyses of index finger NOT_TRANSLATED -HP:0009490 Cone-shaped end part of the index finger NOT_TRANSLATED -HP:0009491 Enlarged end part of the index finger NOT_TRANSLATED -HP:0009492 Fragmentation of end part of the index finger NOT_TRANSLATED -HP:0009493 Irregular end part of the index finger NOT_TRANSLATED -HP:0009494 Increased bone density of end part of the index finger bone NOT_TRANSLATED -HP:0009495 Accessory index finger epiphysis NOT_TRANSLATED -HP:0009496 Small end part of the index finger NOT_TRANSLATED -HP:0009497 Speckled calcifications in end part of the index finger NOT_TRANSLATED -HP:0009498 Triangular end part of the index finger NOT_TRANSLATED -HP:0009499 Abnormality of the end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009499 Epiphyseal abnormality of terminal index finger phalanx NOT_TRANSLATED -HP:0009500 Abnormality of end part of the middle bone of the index finger NOT_TRANSLATED -HP:0009500 Epiphyseal abnormality of middle phalanx of the 2nd finger NOT_TRANSLATED -HP:0009501 Epiphyseal abnormality of the proximal phalanx of the 2nd finger NOT_TRANSLATED -HP:0009502 Absent end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009502 Absent ossification/absent epiphysis of terminal index finger phalanx NOT_TRANSLATED -HP:0009503 Bracket shaped end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009504 Cone-shaped end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009505 Enlarged end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009506 Fragmentation of end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009507 Irregular end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009508 Increased bone density of end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009508 Ivory epiphysis of terminal index finger phalanx NOT_TRANSLATED -HP:0009510 Small end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009511 Speckled calcifications in end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009512 Triangular end part of the outermost bone of the index finger NOT_TRANSLATED -HP:0009513 Absent epiphyses of middle phalanx of index finger NOT_TRANSLATED -HP:0009513 Missing end part of the middle long bone of the index finger NOT_TRANSLATED -HP:0009514 Bracket shaped end part of the middle long bone of the index finger NOT_TRANSLATED -HP:0009515 Cone-shaped end part of the middle long bone of the index finger NOT_TRANSLATED -HP:0009515 Cone-shaped epiphyses of middle phalanx of index finger NOT_TRANSLATED -HP:0009516 Enlarged end part of the middle bone of the index finger NOT_TRANSLATED -HP:0009517 Fragmentation of end part of the middle long bone of the index finger NOT_TRANSLATED -HP:0009518 Irregular end part of the middle long bone of the index finger NOT_TRANSLATED -HP:0009519 Increased bone density of end part of the middle bone of the index finger NOT_TRANSLATED -HP:0009521 Small end part of the innermost long bone of index finger NOT_TRANSLATED -HP:0009522 Speckled calcifications in end part of the middle bone of the index finger NOT_TRANSLATED -HP:0009523 Triangular end part of the middle bone of the index finger NOT_TRANSLATED -HP:0009524 Absent end part of innermost long bone of index finger NOT_TRANSLATED -HP:0009525 Bracket epiphyses of proximal index finger phalanx NOT_TRANSLATED -HP:0009525 Bracket shaped end part of innermost long bone of index finger NOT_TRANSLATED -HP:0009526 Cone-shaped end part of innermost long bone of index finger NOT_TRANSLATED -HP:0009526 Cone-shaped epiphysis of proximal index finger phalanx NOT_TRANSLATED -HP:0009527 Enlarged end part of innermost long bone of index finger NOT_TRANSLATED -HP:0009527 Large epiphysis of proximal index finger phalanx NOT_TRANSLATED -HP:0009528 Fragmentation of end part of innermost long bone of index finger NOT_TRANSLATED -HP:0009529 Irregular end part of innermost long bone of index finger NOT_TRANSLATED -HP:0009530 Increased bone density of end part of the innermost bone of the index finger NOT_TRANSLATED -HP:0009532 Small end part of proximal long bond of index finger NOT_TRANSLATED -HP:0009533 Speckled calcifications in end part of the innermost long bone of index finger NOT_TRANSLATED -HP:0009534 Triangular end part of innermost long bone of index finger NOT_TRANSLATED -HP:0009534 Triangular epiphysis of proximal index finger phalanx NOT_TRANSLATED -HP:0009535 Absent index finger NOT_TRANSLATED -HP:0009535 Absent index finger phalanges NOT_TRANSLATED -HP:0009535 Aplasia of the index finger NOT_TRANSLATED -HP:0009536 Hypoplastic index finger phalanges NOT_TRANSLATED -HP:0009536 Hypoplastic/small index finger NOT_TRANSLATED -HP:0009536 Short index finger NOT_TRANSLATED -HP:0009536 Short index finger phalanges NOT_TRANSLATED -HP:0009536 Short index fingers NOT_TRANSLATED -HP:0009537 Joint contractures of the 2nd finger NOT_TRANSLATED -HP:0009540 Camptodactyly of 2nd finger NOT_TRANSLATED -HP:0009540 Camptodactyly of index finger NOT_TRANSLATED -HP:0009540 Camptodactyly of second finger NOT_TRANSLATED -HP:0009541 Abnormal index finger bones NOT_TRANSLATED -HP:0009541 Abnormality of 2nd finger phalanges NOT_TRANSLATED -HP:0009542 Abnormality of terminal index finger phalanx NOT_TRANSLATED -HP:0009542 Abnormality of the outermost bone of the 2nd finger NOT_TRANSLATED -HP:0009543 Abnormal middle index finger bone NOT_TRANSLATED -HP:0009543 Abnormality of middle 2nd finger phalanx NOT_TRANSLATED -HP:0009544 Abnormal innermost index finger bone NOT_TRANSLATED -HP:0009544 Abnormality of the proximal 2nd finger phalanx NOT_TRANSLATED -HP:0009545 Fused index finger bones NOT_TRANSLATED -HP:0009545 Symphalangism of index finger phalanges NOT_TRANSLATED -HP:0009546 Triangular bones of index finger NOT_TRANSLATED -HP:0009546 Triangular index finger phalanges NOT_TRANSLATED -HP:0009547 Wide index finger bones NOT_TRANSLATED -HP:0009547 Wide/broad index finger phalanges NOT_TRANSLATED -HP:0009548 Bullet-shaped index finger bones NOT_TRANSLATED -HP:0009549 Curved index finger bones NOT_TRANSLATED -HP:0009550 Lytic defect in index finger phalanges NOT_TRANSLATED -HP:0009551 Patchy sclerosis of the phalanges of the 2nd finger NOT_TRANSLATED -HP:0009551 Uneven increase in bone density in index finger bone NOT_TRANSLATED -HP:0009552 Absent/small index finger bone NOT_TRANSLATED -HP:0009552 Absent/underdeveloped index finger bone NOT_TRANSLATED -HP:0009554 Hair displacement, preauricular, towards lateral cheekbone NOT_TRANSLATED -HP:0009554 Hair growing down to cheek NOT_TRANSLATED -HP:0009554 Projection of scalp hair onto lateral cheek NOT_TRANSLATED -HP:0009555 Decreased diameter of pharynx NOT_TRANSLATED -HP:0009555 Decreased length of pharynx NOT_TRANSLATED -HP:0009555 Decreased size of pharynx NOT_TRANSLATED -HP:0009555 Decreased volume of pharynx NOT_TRANSLATED -HP:0009555 Decreased width of pharynx NOT_TRANSLATED -HP:0009555 Hypotrophic pharynx NOT_TRANSLATED -HP:0009555 Small pharynx NOT_TRANSLATED -HP:0009555 Underdevelopment of pharynx NOT_TRANSLATED -HP:0009556 Absent shankbone NOT_TRANSLATED -HP:0009556 Absent shinbone NOT_TRANSLATED -HP:0009556 Aplasia of the tibia NOT_TRANSLATED -HP:0009557 Absent/small outermost index finger bone NOT_TRANSLATED -HP:0009557 Absent/underdeveloped outermost index finger bone NOT_TRANSLATED -HP:0009558 Wide outermost bone of the index finger NOT_TRANSLATED -HP:0009559 Bullet-shaped outermost bone of the index finger NOT_TRANSLATED -HP:0009560 Curved outermost bone of the index finger NOT_TRANSLATED -HP:0009561 Acro-osteolysis of index finger NOT_TRANSLATED -HP:0009561 Acro-osteolysis of terminal index finger phalanx NOT_TRANSLATED -HP:0009561 Osteolytic defects of the outermost bone of the 2nd finger NOT_TRANSLATED -HP:0009562 Uneven increase in bone density in the outermost bone of the 2nd finger NOT_TRANSLATED -HP:0009563 Fused outermost and middle index finger bones NOT_TRANSLATED -HP:0009563 Symphalangism of the distal and middle phalanges of the 2nd finger NOT_TRANSLATED -HP:0009564 Triangular shaped outermost bone of the 2nd finger NOT_TRANSLATED -HP:0009565 Absent outermost index finger bone NOT_TRANSLATED -HP:0009565 Absent terminal index finger phalanx NOT_TRANSLATED -HP:0009566 Hypoplastic terminal index finger phalanx NOT_TRANSLATED -HP:0009566 Hypoplastic/small distal phalanx of the 2nd finger NOT_TRANSLATED -HP:0009566 Short distal phalanx of the second finger NOT_TRANSLATED -HP:0009566 Short outermost bone of the index finger NOT_TRANSLATED -HP:0009566 Short terminal index finger phalanx NOT_TRANSLATED -HP:0009568 Absent/hypoplastic middle phalanx of 2nd finger NOT_TRANSLATED -HP:0009568 Absent/small middle index finger bone NOT_TRANSLATED -HP:0009568 Absent/underdeveloped middle index finger bone NOT_TRANSLATED -HP:0009568 Hypoplastic/aplastic middle phalanx of index finger NOT_TRANSLATED -HP:0009569 Broad middle bone of the index finger NOT_TRANSLATED -HP:0009570 Bullet-shaped middle bone of index finger NOT_TRANSLATED -HP:0009571 Curved middle bone of the index finger NOT_TRANSLATED -HP:0009572 Lytic defects of middle index finger phalanx NOT_TRANSLATED -HP:0009573 Uneven increase in bone density in the middle bone of the index finger NOT_TRANSLATED -HP:0009574 Fused middle bone of index finger NOT_TRANSLATED -HP:0009575 Triangular shaped middle bone of index finger NOT_TRANSLATED -HP:0009576 Absent middle bone of index finger NOT_TRANSLATED -HP:0009576 Absent middle phalanx of index finger NOT_TRANSLATED -HP:0009576 Aplasia of the middle phalanx of the 2nd finger NOT_TRANSLATED -HP:0009577 Brachymesophalangy II (finger) NOT_TRANSLATED -HP:0009577 Hypoplastic middle index finger phalanx NOT_TRANSLATED -HP:0009577 Hypoplastic/small middle phalanx of the 2nd finger NOT_TRANSLATED -HP:0009577 Short middle bone of index finger NOT_TRANSLATED -HP:0009579 Fused innermost and middle index finger bones NOT_TRANSLATED -HP:0009580 Absent/small innermost index finger bone NOT_TRANSLATED -HP:0009580 Absent/underdeveloped innermost index finger bone NOT_TRANSLATED -HP:0009581 Wide innermost bone of index finger NOT_TRANSLATED -HP:0009581 Wide/broad proximal index finger phalanx NOT_TRANSLATED -HP:0009582 Bullet-shaped innermost bone of index finger NOT_TRANSLATED -HP:0009583 Curved innermost bone of index finger NOT_TRANSLATED -HP:0009584 Lytic defects of proximal index finger phalanx NOT_TRANSLATED -HP:0009585 Uneven increase in bone density in innermost index finger bone NOT_TRANSLATED -HP:0009586 Fused innermost bone of index finger NOT_TRANSLATED -HP:0009587 Triangular proximal index finger phalanx NOT_TRANSLATED -HP:0009587 Triangular shaped innermost bone of index finger NOT_TRANSLATED -HP:0009588 Acoustic Neuroma NOT_TRANSLATED -HP:0009588 Vestibular neurilemmoma NOT_TRANSLATED -HP:0009588 Vestibular neurinoma NOT_TRANSLATED -HP:0009588 Vestibular neurolemmoma NOT_TRANSLATED -HP:0009588 Vestibular Schwann cell tumor NOT_TRANSLATED -HP:0009588 Vestibular Schwann cell tumour NOT_TRANSLATED -HP:0009589 Bilateral acoustic neuromas NOT_TRANSLATED -HP:0009591 Abnormality of the eighth cranial nerve NOT_TRANSLATED -HP:0009591 Abnormality of the VIIIth cranial nerve NOT_TRANSLATED -HP:0009596 Absent innermost bone of index finger NOT_TRANSLATED -HP:0009597 Hypoplastic/small proximal phalanx of the 2nd finger NOT_TRANSLATED -HP:0009597 Short proximal index finger phalanx NOT_TRANSLATED -HP:0009597 Short proximal phalanx of the second finger NOT_TRANSLATED -HP:0009598 Fused innermost bone of index finger with 2nd long bone of hand NOT_TRANSLATED -HP:0009599 Abnormality of end part of thumb long bone NOT_TRANSLATED -HP:0009599 Abnormality of the epiphyses of the thumb NOT_TRANSLATED -HP:0009599 Abnormality of thumb epiphyses NOT_TRANSLATED -HP:0009600 Contracture of thumb NOT_TRANSLATED -HP:0009600 Flexion deformities of thumbs NOT_TRANSLATED -HP:0009600 Joint contractures of the thumb NOT_TRANSLATED -HP:0009601 Absent or hypoplastic thumbs NOT_TRANSLATED -HP:0009601 Absent/hypoplastic thumb NOT_TRANSLATED -HP:0009601 Absent/hypoplastic thumbs NOT_TRANSLATED -HP:0009601 Absent/small thumb NOT_TRANSLATED -HP:0009601 Absent/underdeveloped thumb NOT_TRANSLATED -HP:0009601 Aplasia/hypoplasia of thumbs NOT_TRANSLATED -HP:0009601 Aplastic/hypoplastic thumbs NOT_TRANSLATED -HP:0009601 Hypoplastic to aplastic thumbs NOT_TRANSLATED -HP:0009601 Hypoplastic/absent thumb NOT_TRANSLATED -HP:0009601 Thumb aplasia/hypoplasia NOT_TRANSLATED -HP:0009602 Abnormality of the thumb bones NOT_TRANSLATED -HP:0009602 Abnormality of thumb phalanges NOT_TRANSLATED -HP:0009603 Abnormal thumb placement NOT_TRANSLATED -HP:0009603 Deviated thumb NOT_TRANSLATED -HP:0009603 Displacement of the thumb NOT_TRANSLATED -HP:0009606 Complete duplication of outermost bone of the thumb NOT_TRANSLATED -HP:0009608 Complete duplication of the innermost bone of the thumb NOT_TRANSLATED -HP:0009609 Partial/complete duplication of the 1st long bone of hand NOT_TRANSLATED -HP:0009609 Partial/complete duplication of the 1st metacarpal NOT_TRANSLATED -HP:0009611 Bifid distal phalanx of thumb NOT_TRANSLATED -HP:0009611 Bifid terminal phalanges of thumbs NOT_TRANSLATED -HP:0009611 Bifid thumb distal phalanx NOT_TRANSLATED -HP:0009611 Incipient distal thumb phalanx duplication NOT_TRANSLATED -HP:0009611 Notched outermost bone of the thumb NOT_TRANSLATED -HP:0009611 Notched outermost bone of thumb NOT_TRANSLATED -HP:0009611 Notched terminal thumb phalanx NOT_TRANSLATED -HP:0009612 Double thumb distal phalanges NOT_TRANSLATED -HP:0009612 Duplicated terminal phalanx of thumb NOT_TRANSLATED -HP:0009612 Duplication of distal thumb phalanx NOT_TRANSLATED -HP:0009612 Duplication of terminal thumb phalanx NOT_TRANSLATED -HP:0009612 Duplication of the outermost bone of the thumb NOT_TRANSLATED -HP:0009612 Partial/complete duplication of the distal phalanx of the thumb NOT_TRANSLATED -HP:0009613 Notched innermost bone of thumb NOT_TRANSLATED -HP:0009613 Partial/complete duplication of the proximal phalanx of the thumb NOT_TRANSLATED -HP:0009614 Notched thumb bone NOT_TRANSLATED -HP:0009615 Complete duplication of the first long bone of hand NOT_TRANSLATED -HP:0009616 Notched first long bone of hand NOT_TRANSLATED -HP:0009616 partial duplication of the first metacarpal NOT_TRANSLATED -HP:0009617 Abnormality of terminal thumb phalanx NOT_TRANSLATED -HP:0009617 Abnormality of the outermost bone of the thumb NOT_TRANSLATED -HP:0009618 Abnormal innermost thumb bone NOT_TRANSLATED -HP:0009618 Abnormality of proximal thumb phalanx NOT_TRANSLATED -HP:0009623 Attachment of thumb close to wrist NOT_TRANSLATED -HP:0009623 Low implantation of the thumb NOT_TRANSLATED -HP:0009623 Low-set thumb NOT_TRANSLATED -HP:0009623 Proximally placed thumbs NOT_TRANSLATED -HP:0009626 Interphalangeal extension contractures of thumbs NOT_TRANSLATED -HP:0009629 Absent/small innermost thumb bone NOT_TRANSLATED -HP:0009629 Absent/underdeveloped innermost thumb bone NOT_TRANSLATED -HP:0009630 Broad innermost thumb bone NOT_TRANSLATED -HP:0009631 Bullet-shaped innermost thumb bone NOT_TRANSLATED -HP:0009632 Curved innermost thumb bone NOT_TRANSLATED -HP:0009633 Osteolytische defecten van de proximale falanx van de duim CANDIDATE -HP:0009634 Uneven increase in bone density in the innermost thumb bone NOT_TRANSLATED -HP:0009635 Fusion of thumb bone NOT_TRANSLATED -HP:0009636 Triangular innermost thumb bone NOT_TRANSLATED -HP:0009636 Triangular proximal thumb phalanx NOT_TRANSLATED -HP:0009637 Absent innermost thumb bone NOT_TRANSLATED -HP:0009637 Absent ossification/absent proximal thumb phalanx NOT_TRANSLATED -HP:0009637 Aplasia of the proximal phalanx of the thumb NOT_TRANSLATED -HP:0009638 Hypoplastic/small proximal phalanx of the thumb NOT_TRANSLATED -HP:0009638 Short proximal phalanges of thumb NOT_TRANSLATED -HP:0009638 Short proximal thumb bone NOT_TRANSLATED -HP:0009638 Short proximal thumb phalanx NOT_TRANSLATED -HP:0009640 Ankylosis of the metacarpophalangeal joint of the thumb NOT_TRANSLATED -HP:0009640 Fusion of the innermost bone of the thumb with the 1st long bone of hand NOT_TRANSLATED -HP:0009641 Absent/small outermost thumb bone NOT_TRANSLATED -HP:0009641 Absent/underdeveloped outermost thumb bone NOT_TRANSLATED -HP:0009642 Broad outermost bone of the thumb NOT_TRANSLATED -HP:0009642 Broad terminal thumb phalanx NOT_TRANSLATED -HP:0009642 Wide distal phalanx of thumb NOT_TRANSLATED -HP:0009642 Wide outermost bone of thumb NOT_TRANSLATED -HP:0009643 Bullet-shaped outermost bone of the thumb NOT_TRANSLATED -HP:0009644 Curved outermost bone of the thumb NOT_TRANSLATED -HP:0009645 Osteolytic defects of the distal phalanx of the thumb NOT_TRANSLATED -HP:0009645 Osteolytic defects of the outermost bone of the thumb NOT_TRANSLATED -HP:0009646 Uneven increase in bone density in the outermost bone of the thumb NOT_TRANSLATED -HP:0009648 Triangular shaped outermost bone of the thumb NOT_TRANSLATED -HP:0009649 Absence of the outermost bone of the thumb NOT_TRANSLATED -HP:0009649 Absent ossification/absent terminal thumb phalanx NOT_TRANSLATED -HP:0009649 Aplasia of the outermost bone of the thumb NOT_TRANSLATED -HP:0009650 Hypoplastic terminal thumb phalanx NOT_TRANSLATED -HP:0009650 Hypoplastic/small distal phalanx of the thumb NOT_TRANSLATED -HP:0009650 Short outermost bone of the thumb NOT_TRANSLATED -HP:0009650 Short terminal thumb phalanx NOT_TRANSLATED -HP:0009650 Short thumb terminal phalanx NOT_TRANSLATED -HP:0009650 Small terminal thumb phalanx NOT_TRANSLATED -HP:0009652 Bullet-shaped phalanges of the thumb NOT_TRANSLATED -HP:0009652 Bullet-shaped thumb bone NOT_TRANSLATED -HP:0009653 Curved phalanges of the thumb NOT_TRANSLATED -HP:0009653 Curved thumb bone NOT_TRANSLATED -HP:0009654 Osteolytic defects of the phalanges of the thumb NOT_TRANSLATED -HP:0009655 Patchy sclerosis of the phalanges of the thumb NOT_TRANSLATED -HP:0009655 Uneven increase in bone density in thumb bone NOT_TRANSLATED -HP:0009656 Fused thumb bones NOT_TRANSLATED -HP:0009656 Fused thumb phalanges NOT_TRANSLATED -HP:0009656 Symphalangism of the distal and proximal phalanges of the thumb NOT_TRANSLATED -HP:0009657 Triangular shaped phalanges of the thumb NOT_TRANSLATED -HP:0009657 Triangular shaped thumb bone NOT_TRANSLATED -HP:0009657 Triangular thumb phalanges NOT_TRANSLATED -HP:0009658 Absent/small thumb bones NOT_TRANSLATED -HP:0009658 Absent/underdeveloped thumb bones NOT_TRANSLATED -HP:0009659 Aplasia of the phalanges of the thumb NOT_TRANSLATED -HP:0009660 Hypoplastic thumb phalanges NOT_TRANSLATED -HP:0009660 Hypoplastic/small phalanges of the thumb NOT_TRANSLATED -HP:0009660 Short thumb bone NOT_TRANSLATED -HP:0009660 Short thumb phalanges NOT_TRANSLATED -HP:0009662 Abnormality of terminal thumb epiphysis NOT_TRANSLATED -HP:0009662 Abnormality of the end part of the outermost bone of the thumb NOT_TRANSLATED -HP:0009663 Abnormality of end part of thumb innermost long bone NOT_TRANSLATED -HP:0009664 Absent end part of thumb innermost long bone NOT_TRANSLATED -HP:0009665 Bracket shaped end part of thumb innermost long bone NOT_TRANSLATED -HP:0009666 Cone-shaped end part of thumb innermost long bone NOT_TRANSLATED -HP:0009667 Enlarged end part of thumb innermost long bone NOT_TRANSLATED -HP:0009668 Fragmentation of end part of thumb innermost long bone NOT_TRANSLATED -HP:0009669 Irregular end part of thumb innermost long bone NOT_TRANSLATED -HP:0009670 Increased bone density of end part of the innermost bone of the thumb NOT_TRANSLATED -HP:0009672 Small end part of thumb innermost long bone NOT_TRANSLATED -HP:0009673 Speckled calcifications in end part of thumb innermost long bone NOT_TRANSLATED -HP:0009674 Triangular end part of thumb innermost long bone NOT_TRANSLATED -HP:0009675 Absent end part of thumb outermost long bone NOT_TRANSLATED -HP:0009676 Bracket shaped end part of thumb outermost long bone NOT_TRANSLATED -HP:0009677 Cone-shaped end part of thumb outermost long bone NOT_TRANSLATED -HP:0009677 Cone-shaped terminal thumb phalanx epiphysis NOT_TRANSLATED -HP:0009678 Enlarged end part of thumb outermost long bone NOT_TRANSLATED -HP:0009678 Large terminal thumb phalanx epiphysis NOT_TRANSLATED -HP:0009679 Fragmentation of end part thumb outermost long bone NOT_TRANSLATED -HP:0009680 Irregular end part of thumb outermost bone NOT_TRANSLATED -HP:0009681 Increased bone density of end part of the outermost bone of the thumb NOT_TRANSLATED -HP:0009682 Pseudoepiphysis of the outermost bone of the thumb NOT_TRANSLATED -HP:0009683 Small end part of thumb outermost bone NOT_TRANSLATED -HP:0009684 Speckled calcifications in the end part of the outermost thumb bone NOT_TRANSLATED -HP:0009685 Triangular end part of thumb outermost bone NOT_TRANSLATED -HP:0009685 Triangular epiphysis of the outermost bone of the thumb NOT_TRANSLATED -HP:0009687 Bracket shaped end part of the thumb bone NOT_TRANSLATED -HP:0009688 Cone-shaped end part of thumb long bone NOT_TRANSLATED -HP:0009688 Cone-shaped epiphyses of the thumb NOT_TRANSLATED -HP:0009688 Cone-shaped thumb epiphyses NOT_TRANSLATED -HP:0009689 Enlarged end part of thumb long bone NOT_TRANSLATED -HP:0009689 Enlarged epiphyses of the thumb NOT_TRANSLATED -HP:0009690 Fragmentation of end part of long bone of thumb NOT_TRANSLATED -HP:0009690 Fragmentation of the epiphyses of the thumb NOT_TRANSLATED -HP:0009691 Irregular end part of thumb long bone NOT_TRANSLATED -HP:0009691 Irregular epiphyses of the thumb NOT_TRANSLATED -HP:0009692 Increased bone density of end part of the thumb NOT_TRANSLATED -HP:0009692 Ivory epiphyses of the thumb NOT_TRANSLATED -HP:0009693 Pseudoepiphyses of the thumb NOT_TRANSLATED -HP:0009694 Small end part of thumb long bone NOT_TRANSLATED -HP:0009694 Small epiphyses of the thumb NOT_TRANSLATED -HP:0009695 Speckled calcifications in end part of thumb bone NOT_TRANSLATED -HP:0009695 Stippling of the epiphyses of the thumb NOT_TRANSLATED -HP:0009696 Triangular end part of the thumb bone NOT_TRANSLATED -HP:0009699 Lytic defects of hand bones NOT_TRANSLATED -HP:0009700 Fused finger bones NOT_TRANSLATED -HP:0009700 Symphalangism of the hand NOT_TRANSLATED -HP:0009700 Synostosis involving bones of the fingers NOT_TRANSLATED -HP:0009701 Fused long bones of hand NOT_TRANSLATED -HP:0009701 Synostosis involving metacarpal bones NOT_TRANSLATED -HP:0009701 Synostosis involving the metacarpal bones NOT_TRANSLATED -HP:0009702 Carpal bone fusion NOT_TRANSLATED -HP:0009702 Carpal fusion NOT_TRANSLATED -HP:0009702 Fused carpal bones NOT_TRANSLATED -HP:0009702 Fused wrist bones NOT_TRANSLATED -HP:0009702 Fusion of carpal bones NOT_TRANSLATED -HP:0009702 Synostosis involving the carpal bones NOT_TRANSLATED -HP:0009703 First metacarpophalangeal joint synostosis NOT_TRANSLATED -HP:0009703 Fusion involving 1st long bone of hand NOT_TRANSLATED -HP:0009703 Symphalangism affecting the 1st metacarpal NOT_TRANSLATED -HP:0009704 Chronic cerebrospinal fluid lymphocytosis NOT_TRANSLATED -HP:0009705 Fusion involving the 2nd long bone of hand NOT_TRANSLATED -HP:0009706 Fusion involving the 3rd long bone of hand NOT_TRANSLATED -HP:0009707 Fusion involving the 4th long bone of hand NOT_TRANSLATED -HP:0009708 Fusion involving the 5th long bone of hand NOT_TRANSLATED -HP:0009710 Chilblain lesions NOT_TRANSLATED -HP:0009711 Retinal hemangioblastoma NOT_TRANSLATED -HP:0009714 Abnormality of the epididymis NOT_TRANSLATED -HP:0009719 Hypomelanotic macules NOT_TRANSLATED -HP:0009720 Facial angiofibromas NOT_TRANSLATED -HP:0009720 Sebaceous adenoma NOT_TRANSLATED -HP:0009720 Sebaceous adenomas NOT_TRANSLATED -HP:0009722 Dental enamel pitting NOT_TRANSLATED -HP:0009722 Pitting of tooth enamel NOT_TRANSLATED -HP:0009722 Tooth enamel pits NOT_TRANSLATED -HP:0009724 Subungual fibroma NOT_TRANSLATED -HP:0009725 Bladder cancer NOT_TRANSLATED -HP:0009725 Bladder tumor NOT_TRANSLATED -HP:0009725 Bladder tumour NOT_TRANSLATED -HP:0009726 Kidney cancer NOT_TRANSLATED -HP:0009726 Neoplasia of the kidneys NOT_TRANSLATED -HP:0009726 Renal neoplasia NOT_TRANSLATED -HP:0009726 Renal tumors NOT_TRANSLATED -HP:0009726 Renal tumours NOT_TRANSLATED -HP:0009727 Punched out areas of chorioretinal hypopigmentation NOT_TRANSLATED -HP:0009728 Tumors of striated muscle NOT_TRANSLATED -HP:0009728 Tumours of striated muscle NOT_TRANSLATED -HP:0009731 Cerebral hamartomata NOT_TRANSLATED -HP:0009734 Optic glioma NOT_TRANSLATED -HP:0009736 Tibial pseudoarthrosis NOT_TRANSLATED -HP:0009737 Iris hamartomas NOT_TRANSLATED -HP:0009738 Abnormal antehelix NOT_TRANSLATED -HP:0009738 Abnormal anthelix NOT_TRANSLATED -HP:0009738 Abnormal antihelix NOT_TRANSLATED -HP:0009739 Hypoplastic antihelix NOT_TRANSLATED -HP:0009740 Abnormally small parotid gland NOT_TRANSLATED -HP:0009740 Absence of the parotid gland NOT_TRANSLATED -HP:0009740 Hypoplasia of parotid gland NOT_TRANSLATED -HP:0009740 Underdevelopment of parotid gland NOT_TRANSLATED -HP:0009741 Scarring of kidney arteries NOT_TRANSLATED -HP:0009741 Thickening of kidney artiries NOT_TRANSLATED -HP:0009743 Distichiasis of eyelid eyelashes NOT_TRANSLATED -HP:0009744 Abnormality of the spinal dura mater NOT_TRANSLATED -HP:0009745 Epidural arachnoid cysts of the spinal canal NOT_TRANSLATED -HP:0009746 Broad nasal septum NOT_TRANSLATED -HP:0009746 Broad septum of nose NOT_TRANSLATED -HP:0009746 Thick septum of nose NOT_TRANSLATED -HP:0009746 Wide nasal septum NOT_TRANSLATED -HP:0009746 Wide septum of nose NOT_TRANSLATED -HP:0009748 Fleshy earlobe NOT_TRANSLATED -HP:0009748 Fleshy earlobes NOT_TRANSLATED -HP:0009748 Prominent ear lobes NOT_TRANSLATED -HP:0009748 Prominent ear lobules NOT_TRANSLATED -HP:0009751 Absent pectoralis major muscle NOT_TRANSLATED -HP:0009752 Cleft in cranial base NOT_TRANSLATED -HP:0009754 Alveolar synechiae NOT_TRANSLATED -HP:0009754 Fusion of the alveolar ridges NOT_TRANSLATED -HP:0009755 Adhesion of eyelids NOT_TRANSLATED -HP:0009755 Ankyloblepharon filiforme adnatum NOT_TRANSLATED -HP:0009755 Eyelid synechiae NOT_TRANSLATED -HP:0009755 Eyelids stuck together NOT_TRANSLATED -HP:0009759 Neck pterygium NOT_TRANSLATED -HP:0009760 Pterygium cubitale NOT_TRANSLATED -HP:0009760 Webbed elbow NOT_TRANSLATED -HP:0009763 Pain in extremities NOT_TRANSLATED -HP:0009765 Columella extends below the ala nasi NOT_TRANSLATED -HP:0009765 Columella, low NOT_TRANSLATED -HP:0009765 Columella, low hanging NOT_TRANSLATED -HP:0009765 Extension of the columella below the ala nasi NOT_TRANSLATED -HP:0009765 Low-hanging columella NOT_TRANSLATED -HP:0009765 Prominent columella NOT_TRANSLATED -HP:0009765 Rounded columella NOT_TRANSLATED -HP:0009767 Aplastic/hypoplastic phalanges NOT_TRANSLATED -HP:0009767 Aplastic/hypoplastic phalanges of the hand NOT_TRANSLATED -HP:0009767 Hypoplastic/absent phalanges NOT_TRANSLATED -HP:0009768 Wide hand bones NOT_TRANSLATED -HP:0009768 Widening of phalanges of the hand NOT_TRANSLATED -HP:0009769 Bullet-shaped hand bones NOT_TRANSLATED -HP:0009769 Bullet-shaped phalanges of the hands NOT_TRANSLATED -HP:0009769 Conical bullet-shaped distal ends of phalanges NOT_TRANSLATED -HP:0009770 Curved hand bones NOT_TRANSLATED -HP:0009771 Acro-osteolysis NOT_TRANSLATED -HP:0009771 Acroosteolysis NOT_TRANSLATED -HP:0009771 Breakdown of small bones of fingers NOT_TRANSLATED -HP:0009772 Patchy sclerosis of the phalanges of the hand NOT_TRANSLATED -HP:0009772 Phalangeal sclerosis NOT_TRANSLATED -HP:0009772 Uneven increase in bone density in finger bone NOT_TRANSLATED -HP:0009773 Fused finger bones of the hand NOT_TRANSLATED -HP:0009773 Synostosis involving phalanges of the hand NOT_TRANSLATED -HP:0009774 Delta phalanx/delta-like phalanx NOT_TRANSLATED -HP:0009774 Triangular shaped hand bones NOT_TRANSLATED -HP:0009775 Amniotic bands NOT_TRANSLATED -HP:0009775 Amniotic constriction band NOT_TRANSLATED -HP:0009775 Congenital constriction band sequence NOT_TRANSLATED -HP:0009775 Pseudoainhum NOT_TRANSLATED -HP:0009776 Absent fingers or toes NOT_TRANSLATED -HP:0009776 Aphalangy NOT_TRANSLATED -HP:0009777 Absent thumbs NOT_TRANSLATED -HP:0009777 Aplasia of the thumb NOT_TRANSLATED -HP:0009777 Thumb aplasia NOT_TRANSLATED -HP:0009778 Hypoplastic thumb NOT_TRANSLATED -HP:0009778 Hypoplastic thumbs NOT_TRANSLATED -HP:0009778 Hypoplastic/small thumb NOT_TRANSLATED -HP:0009778 Short thumbs NOT_TRANSLATED -HP:0009778 Small thumbs NOT_TRANSLATED -HP:0009778 Thumb brachydactyly NOT_TRANSLATED -HP:0009778 Thumb hypoplasia NOT_TRANSLATED -HP:0009779 syndactyly of 3rd - 4th toes NOT_TRANSLATED -HP:0009779 Webbed 3rd-4th toes NOT_TRANSLATED -HP:0009782 Absent/small biceps NOT_TRANSLATED -HP:0009782 Absent/underdeveloped biceps NOT_TRANSLATED -HP:0009783 Absent biceps NOT_TRANSLATED -HP:0009784 Absent/small triceps NOT_TRANSLATED -HP:0009784 Absent/underdeveloped triceps NOT_TRANSLATED -HP:0009785 Absent triceps NOT_TRANSLATED -HP:0009786 Absent/small thigh muscles NOT_TRANSLATED -HP:0009786 Absent/underdeveloped thigh muscles NOT_TRANSLATED -HP:0009787 Absent/small quadriceps NOT_TRANSLATED -HP:0009787 Absent/underdeveloped quadriceps NOT_TRANSLATED -HP:0009788 Absent quads NOT_TRANSLATED -HP:0009793 Altman type IV sacrococcygeal teratoma NOT_TRANSLATED -HP:0009793 Retrorectal teratoma NOT_TRANSLATED -HP:0009794 Abnormality of branchial apparatus NOT_TRANSLATED -HP:0009794 Abnormality of branchial arch NOT_TRANSLATED -HP:0009794 Branchial abnormality NOT_TRANSLATED -HP:0009794 Branchial anomalies NOT_TRANSLATED -HP:0009795 Branchial cleft fistula NOT_TRANSLATED -HP:0009796 Branchial cleft cyst NOT_TRANSLATED -HP:0009796 Branchial cysts NOT_TRANSLATED -HP:0009798 Euthyroid goitre NOT_TRANSLATED -HP:0009799 Extra spleen NOT_TRANSLATED -HP:0009800 gestational diabetes NOT_TRANSLATED -HP:0009800 maternal hyperglycemia NOT_TRANSLATED -HP:0009802 Absent finger bone of the hand NOT_TRANSLATED -HP:0009803 Hypoplastic phalanges NOT_TRANSLATED -HP:0009803 Hypoplastic phalanges of hands NOT_TRANSLATED -HP:0009803 Hypoplastic/small phalanges of the hand NOT_TRANSLATED -HP:0009803 Phalangeal hypoplasia NOT_TRANSLATED -HP:0009803 Rudimentary phalanges NOT_TRANSLATED -HP:0009803 Short finger bones NOT_TRANSLATED -HP:0009803 Short phalanges NOT_TRANSLATED -HP:0009803 Shortened phalanges NOT_TRANSLATED -HP:0009804 Decreased number of teeth NOT_TRANSLATED -HP:0009804 Decreased tooth count NOT_TRANSLATED -HP:0009804 Dental agenesis NOT_TRANSLATED -HP:0009804 Failure of development of some teeth NOT_TRANSLATED -HP:0009804 Fewer teeth than normal NOT_TRANSLATED -HP:0009804 Missing some teeth NOT_TRANSLATED -HP:0009804 Reduced number of teeth NOT_TRANSLATED -HP:0009804 Teeth, agenesis NOT_TRANSLATED -HP:0009808 Abnormality involving the diaphyses of the upper limbs NOT_TRANSLATED -HP:0009808 Abnormality of shaft of long bone of the upper limbs NOT_TRANSLATED -HP:0009808 Diaphyseal abnormality of the upper limbs NOT_TRANSLATED -HP:0009809 Abnormality of the wide portion of upper limb bone NOT_TRANSLATED -HP:0009809 Abnormality of upper limb metaphysis NOT_TRANSLATED -HP:0009809 Metaphyseal abnormality of the upper limbs NOT_TRANSLATED -HP:0009810 Abnormality of the joints of the upper limbs NOT_TRANSLATED -HP:0009811 Abnormality of the elbows NOT_TRANSLATED -HP:0009815 Absent/small extremities NOT_TRANSLATED -HP:0009815 Absent/underdeveloped extremities NOT_TRANSLATED -HP:0009815 Short or absent limbs NOT_TRANSLATED -HP:0009815 Shortened limbs NOT_TRANSLATED -HP:0009816 Hypoplasia involving bones of the lower limbs NOT_TRANSLATED -HP:0009816 Hypoplasia of the lower limbs NOT_TRANSLATED -HP:0009816 Underdeveloped lower limb bones NOT_TRANSLATED -HP:0009817 Absent bones of the lower limbs NOT_TRANSLATED -HP:0009821 Hypoplasia involving forearm bones NOT_TRANSLATED -HP:0009821 Short forearm bones NOT_TRANSLATED -HP:0009821 Short forearms NOT_TRANSLATED -HP:0009821 Shortened forearm NOT_TRANSLATED -HP:0009822 Absent forearm bones NOT_TRANSLATED -HP:0009823 Absent bones of the upper limbs NOT_TRANSLATED -HP:0009824 Hypoplasia involving bones of the upper limbs NOT_TRANSLATED -HP:0009824 Short arms NOT_TRANSLATED -HP:0009824 Shortening of the arms NOT_TRANSLATED -HP:0009825 Absent bones of the extremities NOT_TRANSLATED -HP:0009826 Hypoplasia involving bones of the extremities NOT_TRANSLATED -HP:0009826 limb shortening NOT_TRANSLATED -HP:0009826 Short limb NOT_TRANSLATED -HP:0009826 Short limbs NOT_TRANSLATED -HP:0009830 Neuropathy NOT_TRANSLATED -HP:0009830 Peripheral nerve damage NOT_TRANSLATED -HP:0009830 Peripheral neuritis NOT_TRANSLATED -HP:0009831 Single damaged nerve NOT_TRANSLATED -HP:0009832 Abnormal terminal phalanges of the hand NOT_TRANSLATED -HP:0009832 Abnormality of the distal phalanges of the hand NOT_TRANSLATED -HP:0009832 Abnormality of the distal phalanx of finger NOT_TRANSLATED -HP:0009832 Abnormality of the outermost finger bone NOT_TRANSLATED -HP:0009833 Abnormality of the middle finger bones of the hand NOT_TRANSLATED -HP:0009833 Abnormality of the middle phalanges of the hand NOT_TRANSLATED -HP:0009834 Abnormality of the innermost finger bones of the hand NOT_TRANSLATED -HP:0009834 Abnormality of the proximal phalanges of the hand NOT_TRANSLATED -HP:0009835 Absent/hypoplastic distal phalanges NOT_TRANSLATED -HP:0009835 Absent/small outermost finger bone of the hand NOT_TRANSLATED -HP:0009835 Absent/underdeveloped outermost finger bone of the hand NOT_TRANSLATED -HP:0009835 Aplasia/Hypoplasia of the distal phalanges NOT_TRANSLATED -HP:0009835 Aplastic/hypoplastic distal phalanges NOT_TRANSLATED -HP:0009835 Hypoplastic to absent terminal phalanges NOT_TRANSLATED -HP:0009835 Hypoplastic/aplastic distal phalanges NOT_TRANSLATED -HP:0009835 Hypoplastic/aplastic distal phalanx NOT_TRANSLATED -HP:0009835 Small or absent distal phalanges NOT_TRANSLATED -HP:0009836 Broad distal phalanges NOT_TRANSLATED -HP:0009836 Broad distal phalanges of the hand NOT_TRANSLATED -HP:0009836 Broad distal phalanx NOT_TRANSLATED -HP:0009836 Broad outermost finger bone NOT_TRANSLATED -HP:0009836 Broad terminal phalanges NOT_TRANSLATED -HP:0009836 Broad, square ends of distal phalanges NOT_TRANSLATED -HP:0009836 Spatulate terminal phalanges NOT_TRANSLATED -HP:0009837 Bullet-shaped outermost finger bone of the hand NOT_TRANSLATED -HP:0009838 Curved outermost finger bone of the hand NOT_TRANSLATED -HP:0009839 Acro-osteolysis of distal phalanges NOT_TRANSLATED -HP:0009839 Acroosteolysis of distal phalanges NOT_TRANSLATED -HP:0009839 Osteolytic defects of the outermost finger bone of the hand NOT_TRANSLATED -HP:0009840 Patchy sclerosis of the distal phalanges of the hand NOT_TRANSLATED -HP:0009840 Uneven increase in bone density in outermost finger bone NOT_TRANSLATED -HP:0009843 Absent/hypoplastic middle phalanges NOT_TRANSLATED -HP:0009843 Absent/small middle finger bone of the hand NOT_TRANSLATED -HP:0009843 Absent/underdeveloped middle finger bone of the hand NOT_TRANSLATED -HP:0009843 Aplasia/hypoplasia of middle phalanges NOT_TRANSLATED -HP:0009843 Aplastic/hypoplastic middle phalanges NOT_TRANSLATED -HP:0009843 Hypoplastic/aplastic middle phalanx NOT_TRANSLATED -HP:0009843 Short to absent middle phalanges NOT_TRANSLATED -HP:0009843 Short/absent middle phalanges NOT_TRANSLATED -HP:0009844 Broad middle finger bones NOT_TRANSLATED -HP:0009844 Broad middle phalanges of finger NOT_TRANSLATED -HP:0009844 Broad middle phalanges of the hand NOT_TRANSLATED -HP:0009846 Curved middle finger bonds of the hand NOT_TRANSLATED -HP:0009848 Patchy sclerosis of the middle phalanges of the hand NOT_TRANSLATED -HP:0009848 Uneven increase in bone density in the middle finger bones of the hand NOT_TRANSLATED -HP:0009849 Fused middle finger bone NOT_TRANSLATED -HP:0009850 Triangular shaped middle finger bones of the hand NOT_TRANSLATED -HP:0009851 Absent/small innermost finger bones of the hand NOT_TRANSLATED -HP:0009851 Absent/underdeveloped innermost finger bones of the hand NOT_TRANSLATED -HP:0009852 Broad innermost finger bones of the hand NOT_TRANSLATED -HP:0009852 Wide innermost finger bones of the hand NOT_TRANSLATED -HP:0009853 Bullet-shaped innermost finger bones of the hand NOT_TRANSLATED -HP:0009854 Curved innermost finger bones of the hand NOT_TRANSLATED -HP:0009855 Proximal phalanges osteolysis NOT_TRANSLATED -HP:0009856 Patchy sclerosis of the proximal phalanges of the hand NOT_TRANSLATED -HP:0009856 Uneven increase in bone density in innermost finger bone NOT_TRANSLATED -HP:0009857 Fused innermost hand bones NOT_TRANSLATED -HP:0009858 Triangular shaped innermost finger bone NOT_TRANSLATED -HP:0009875 Triangular shaped outermost bone of the hand NOT_TRANSLATED -HP:0009879 Cortical gyral simplification NOT_TRANSLATED -HP:0009880 Broad outermost hand bones NOT_TRANSLATED -HP:0009881 Absent distal phalanges of the hand NOT_TRANSLATED -HP:0009881 Absent outermost hand bone NOT_TRANSLATED -HP:0009881 Aplasia of outermost hand bone NOT_TRANSLATED -HP:0009882 Brachytelophalangy NOT_TRANSLATED -HP:0009882 Distal phalangeal hypoplasia NOT_TRANSLATED -HP:0009882 Hypoplasia of the distal phalanges NOT_TRANSLATED -HP:0009882 Hypoplasia of the distal phalanges of the hand NOT_TRANSLATED -HP:0009882 Hypoplasic terminal phalanges NOT_TRANSLATED -HP:0009882 Hypoplastic distal phalanges NOT_TRANSLATED -HP:0009882 Hypoplastic terminal phalanges NOT_TRANSLATED -HP:0009882 Short distal phalanges NOT_TRANSLATED -HP:0009882 Short outermost finger bone NOT_TRANSLATED -HP:0009882 Terminal phalangeal hypoplasia of hand NOT_TRANSLATED -HP:0009883 Bifid terminal phalanges NOT_TRANSLATED -HP:0009883 Duplication of the outermost bone of hand NOT_TRANSLATED -HP:0009883 Notched outermost bone of hand NOT_TRANSLATED -HP:0009883 Partial/complete duplication of the distal phalanges of the hand NOT_TRANSLATED -HP:0009884 Tapered distal phalanges NOT_TRANSLATED -HP:0009884 Tapered distal phalanges of the hand NOT_TRANSLATED -HP:0009884 Tapered outermost finger bone NOT_TRANSLATED -HP:0009887 Abnormality of hair color NOT_TRANSLATED -HP:0009887 Abnormality of hair colour NOT_TRANSLATED -HP:0009889 Localised abnormal hair growth NOT_TRANSLATED -HP:0009889 Localised hirsutism NOT_TRANSLATED -HP:0009889 Localized abnormal hair growth NOT_TRANSLATED -HP:0009890 High frontal hairline NOT_TRANSLATED -HP:0009891 Depressed supraorbital margins NOT_TRANSLATED -HP:0009891 Depressed supraorbital ridge NOT_TRANSLATED -HP:0009891 Flat supraorbital margins NOT_TRANSLATED -HP:0009891 Flat supraorbital ridge NOT_TRANSLATED -HP:0009891 Flattened bony protrusion above eyes NOT_TRANSLATED -HP:0009891 Hypoplasia of supraorbital margins NOT_TRANSLATED -HP:0009891 Hypoplasia of the supraorbital ridges NOT_TRANSLATED -HP:0009891 Hypoplastic supraorbital ridges NOT_TRANSLATED -HP:0009891 Shallow orbital ridges NOT_TRANSLATED -HP:0009891 Shallow supraorbital ridge NOT_TRANSLATED -HP:0009891 Underdeveloped brows NOT_TRANSLATED -HP:0009892 Absent ear NOT_TRANSLATED -HP:0009892 Absent ears NOT_TRANSLATED -HP:0009892 Congenital absence of external ear NOT_TRANSLATED -HP:0009895 Abnormality of the crus of the ear NOT_TRANSLATED -HP:0009897 Helix, crus, horizontal NOT_TRANSLATED -HP:0009897 Horizontal orientation of the crus of helix NOT_TRANSLATED -HP:0009897 Horizontal orientation of the ear crus NOT_TRANSLATED -HP:0009897 Railroad track ears NOT_TRANSLATED -HP:0009897 Railroad track sign NOT_TRANSLATED -HP:0009898 Hypoplasia of the crus of the ear NOT_TRANSLATED -HP:0009898 Underdeveloped crus of the ear NOT_TRANSLATED -HP:0009899 Abnormal prominence of the crus of the ear NOT_TRANSLATED -HP:0009899 Helix, crus, prominent NOT_TRANSLATED -HP:0009899 Hyperplastic helix crus NOT_TRANSLATED -HP:0009899 Hypertrophic helix crus NOT_TRANSLATED -HP:0009900 Deafness in one ear NOT_TRANSLATED -HP:0009900 Deafness, unilateral NOT_TRANSLATED -HP:0009902 Notched helix NOT_TRANSLATED -HP:0009902 Notching of the ear helix NOT_TRANSLATED -HP:0009904 Large helix NOT_TRANSLATED -HP:0009906 Absent/small ear lobes NOT_TRANSLATED -HP:0009906 Absent/underdeveloped ear lobes NOT_TRANSLATED -HP:0009907 Adherent earlobe NOT_TRANSLATED -HP:0009908 Earlobe crease NOT_TRANSLATED -HP:0009908 Transverse earlobe creases NOT_TRANSLATED -HP:0009909 Fleshy upturned lobules NOT_TRANSLATED -HP:0009909 Lobe, uplifted NOT_TRANSLATED -HP:0009909 Uplifted earlobes NOT_TRANSLATED -HP:0009909 Upturned earlobe NOT_TRANSLATED -HP:0009909 Upturned earlobes NOT_TRANSLATED -HP:0009910 Absent middle ear bones NOT_TRANSLATED -HP:0009910 Absent middle ear ossicles NOT_TRANSLATED -HP:0009911 Abnormality of the temporal bone NOT_TRANSLATED -HP:0009912 Abnormality of the tragus NOT_TRANSLATED -HP:0009913 Absent/small tragus NOT_TRANSLATED -HP:0009913 Absent/underdeveloped tragus NOT_TRANSLATED -HP:0009914 Cyclops eye NOT_TRANSLATED -HP:0009914 Single central eye NOT_TRANSLATED -HP:0009915 Asymmetry of the corneas NOT_TRANSLATED -HP:0009916 Asymmetric pupil sizes NOT_TRANSLATED -HP:0009916 Asymmetry of the pupils NOT_TRANSLATED -HP:0009916 Unequal pupil dilatation NOT_TRANSLATED -HP:0009916 Unequal pupil size NOT_TRANSLATED -HP:0009918 Corectopia NOT_TRANSLATED -HP:0009918 Displaced pupil NOT_TRANSLATED -HP:0009919 Retina tumor NOT_TRANSLATED -HP:0009919 Retina tumour NOT_TRANSLATED -HP:0009920 Congenital melanosis bulbi NOT_TRANSLATED -HP:0009920 Naevus fuscoceruleus ophthalmomaxillaris NOT_TRANSLATED -HP:0009920 Nevus fuscoceruleus ophthalmomaxillaris NOT_TRANSLATED -HP:0009920 Oculodermal melanocytosis NOT_TRANSLATED -HP:0009921 Globe retraction and deviation on adduction NOT_TRANSLATED -HP:0009921 Limited eye motility from Duane anomaly NOT_TRANSLATED -HP:0009921 Limited eye movement from Duane anomaly NOT_TRANSLATED -HP:0009922 Persistence of the hyaloid artery NOT_TRANSLATED -HP:0009922 Persistent hyaloid artery NOT_TRANSLATED -HP:0009924 Decreased nasal size NOT_TRANSLATED -HP:0009924 Decreased size of nose NOT_TRANSLATED -HP:0009924 Hypoplasia of the nose NOT_TRANSLATED -HP:0009924 Hypotrophic nose NOT_TRANSLATED -HP:0009926 Increased lacrimation NOT_TRANSLATED -HP:0009926 Increased tears NOT_TRANSLATED -HP:0009926 Tearing NOT_TRANSLATED -HP:0009926 Watery eyes NOT_TRANSLATED -HP:0009927 Absent nose NOT_TRANSLATED -HP:0009927 Arrhinia NOT_TRANSLATED -HP:0009927 Failure of development of nose NOT_TRANSLATED -HP:0009927 Missing nose NOT_TRANSLATED -HP:0009927 Nasal underdevelopment NOT_TRANSLATED -HP:0009927 Underdevelopment of nose NOT_TRANSLATED -HP:0009928 Ala nasi, thick NOT_TRANSLATED -HP:0009928 Thickening of the alae nasi NOT_TRANSLATED -HP:0009929 Abnormality of the columella NOT_TRANSLATED -HP:0009929 Anomaly of the columella NOT_TRANSLATED -HP:0009929 Deformity of the columella NOT_TRANSLATED -HP:0009929 Malformation of the columella NOT_TRANSLATED -HP:0009930 Asymmetry of nostrils NOT_TRANSLATED -HP:0009930 Crooked nostrils NOT_TRANSLATED -HP:0009930 Unequal nostril shape NOT_TRANSLATED -HP:0009930 Unequal nostril size NOT_TRANSLATED -HP:0009930 Uneven nostril shape NOT_TRANSLATED -HP:0009930 Uneven nostril size NOT_TRANSLATED -HP:0009931 Broad nostril NOT_TRANSLATED -HP:0009931 Dilated nares NOT_TRANSLATED -HP:0009931 Dilated nostril NOT_TRANSLATED -HP:0009931 Enlarged nares NOT_TRANSLATED -HP:0009931 Enlarged nostril NOT_TRANSLATED -HP:0009931 Increased diameter of nares NOT_TRANSLATED -HP:0009931 Increased diameter of nostril NOT_TRANSLATED -HP:0009931 Increased width of nares NOT_TRANSLATED -HP:0009931 Large nares NOT_TRANSLATED -HP:0009931 Naris, broad NOT_TRANSLATED -HP:0009931 Naris, enlarged NOT_TRANSLATED -HP:0009931 Wide nares NOT_TRANSLATED -HP:0009931 Wide nostril NOT_TRANSLATED -HP:0009932 Mono nostril NOT_TRANSLATED -HP:0009932 One nostril NOT_TRANSLATED -HP:0009932 Single nare NOT_TRANSLATED -HP:0009932 Single nostril NOT_TRANSLATED -HP:0009933 Collapsed nostrils NOT_TRANSLATED -HP:0009933 Naris, narrow NOT_TRANSLATED -HP:0009933 Naris, slit-like NOT_TRANSLATED -HP:0009933 Narrow nares NOT_TRANSLATED -HP:0009933 Narrow nostrils NOT_TRANSLATED -HP:0009933 Slit-like nostrils NOT_TRANSLATED -HP:0009933 Small nostrils NOT_TRANSLATED -HP:0009933 Thin nares NOT_TRANSLATED -HP:0009933 Thin nostrils NOT_TRANSLATED -HP:0009934 Accessory nares NOT_TRANSLATED -HP:0009934 Accessory nostril NOT_TRANSLATED -HP:0009934 Extra nostril NOT_TRANSLATED -HP:0009934 Supernumerary nares NOT_TRANSLATED -HP:0009934 Supernumerary nostrils NOT_TRANSLATED -HP:0009935 Ageneis of nasal septum NOT_TRANSLATED -HP:0009935 Failure of development of nasal septum NOT_TRANSLATED -HP:0009935 Underdevelopment of nasal septum NOT_TRANSLATED -HP:0009936 Decreased width of nasal septum NOT_TRANSLATED -HP:0009936 Narrow septum of nose NOT_TRANSLATED -HP:0009936 Thin nasal septum NOT_TRANSLATED -HP:0009936 Thin septum of nose NOT_TRANSLATED -HP:0009937 Excessive face hair NOT_TRANSLATED -HP:0009938 Depressed cheeks NOT_TRANSLATED -HP:0009938 Hollow cheeks NOT_TRANSLATED -HP:0009939 Absence of lower jaw NOT_TRANSLATED -HP:0009939 Absence of lower jaw bone NOT_TRANSLATED -HP:0009939 Absence of lower jaw bones NOT_TRANSLATED -HP:0009939 Absence of mandible NOT_TRANSLATED -HP:0009939 Absent mandible NOT_TRANSLATED -HP:0009939 Agenesis of the mandible NOT_TRANSLATED -HP:0009939 Agnathia NOT_TRANSLATED -HP:0009939 Aplasia of the lower jaw bone NOT_TRANSLATED -HP:0009939 Failure of development of lower jaw NOT_TRANSLATED -HP:0009939 Failure of development of mandible NOT_TRANSLATED -HP:0009939 Missing lower jaw NOT_TRANSLATED -HP:0009940 Asymmetry of lower jaw NOT_TRANSLATED -HP:0009940 Canted lower jaw NOT_TRANSLATED -HP:0009940 Canted mandible NOT_TRANSLATED -HP:0009940 Crooked lower jaw NOT_TRANSLATED -HP:0009940 Deviation of lower jaw NOT_TRANSLATED -HP:0009940 Deviation of mandible NOT_TRANSLATED -HP:0009940 Deviation of the lower jaw NOT_TRANSLATED -HP:0009940 Deviation of the mandible NOT_TRANSLATED -HP:0009940 Lower jaw shifted to one side NOT_TRANSLATED -HP:0009940 Tilted lower jaw NOT_TRANSLATED -HP:0009940 Tilted mandible NOT_TRANSLATED -HP:0009940 Uneven lower jaw NOT_TRANSLATED -HP:0009940 Uneven mandible NOT_TRANSLATED -HP:0009941 Asymmetry of oral cavity NOT_TRANSLATED -HP:0009941 Canted mouth NOT_TRANSLATED -HP:0009941 Crooked mouth NOT_TRANSLATED -HP:0009941 Tilted mouth NOT_TRANSLATED -HP:0009941 Uneven mouth NOT_TRANSLATED -HP:0009942 Complete/partial duplication of phalanges of the thumb NOT_TRANSLATED -HP:0009942 Duplicated thumb NOT_TRANSLATED -HP:0009942 Duplicated thumbs NOT_TRANSLATED -HP:0009942 Duplication of phalanx of thumb NOT_TRANSLATED -HP:0009943 Complete duplication of the phalanges of the thumb NOT_TRANSLATED -HP:0009943 Complete duplication of thumb bones NOT_TRANSLATED -HP:0009943 Digitalization of thumb NOT_TRANSLATED -HP:0009943 Digitalization of thumbs NOT_TRANSLATED -HP:0009944 Bifid thumb NOT_TRANSLATED -HP:0009944 Notching of thumb phalanges NOT_TRANSLATED -HP:0009944 Partial duplication of the phalanges of the thumb NOT_TRANSLATED -HP:0009944 Partial duplication of the thumb bones NOT_TRANSLATED -HP:0009945 Duplication of the bones of index finger NOT_TRANSLATED -HP:0009945 Partial/complete duplication of phalanges of the 2nd finger NOT_TRANSLATED -HP:0009946 Extra index finger NOT_TRANSLATED -HP:0009947 Duplication of the proximal bone of the index finger NOT_TRANSLATED -HP:0009947 Partial/complete duplication of the proximal phalanx of the 2nd finger NOT_TRANSLATED -HP:0009948 Partial/complete duplication of the distal phalanx of the 2nd finger NOT_TRANSLATED -HP:0009948 Partial/complete duplication of the outermost bone of the index finger NOT_TRANSLATED -HP:0009949 Partial/complete duplication of the middle bone of the index finger NOT_TRANSLATED -HP:0009949 Partial/complete duplication of the middle phalanx of the 2nd finger NOT_TRANSLATED -HP:0009950 Complete duplication of the outermost bone of the index finger NOT_TRANSLATED -HP:0009951 Bifid terminal phalanx of the 2nd finger NOT_TRANSLATED -HP:0009951 Notched outermost bone of the index finger NOT_TRANSLATED -HP:0009951 Partial duplication of the outermost bone of the 2nd finger NOT_TRANSLATED -HP:0009952 Complete duplication of the middle bone of the index finger NOT_TRANSLATED -HP:0009953 Partial duplication of the middle bone of the index finger NOT_TRANSLATED -HP:0009954 Complete duplication of the proximal bone of the index finger NOT_TRANSLATED -HP:0009955 Partial duplication of the proximal bones of the index finger NOT_TRANSLATED -HP:0009956 Partial duplication of the bones of the index finger NOT_TRANSLATED -HP:0009957 Complete duplication of the bones of the index finger NOT_TRANSLATED -HP:0009958 Extra middle finger NOT_TRANSLATED -HP:0009959 Duplication of middle finger bone NOT_TRANSLATED -HP:0009959 Partial/complete duplication of phalanges of the 3rd finger NOT_TRANSLATED -HP:0009960 Complete duplication of middle finger bones NOT_TRANSLATED -HP:0009961 Partial duplication of middle finger bones NOT_TRANSLATED -HP:0009962 Partial/complete duplication of the distal phalanx of the 3rd finger NOT_TRANSLATED -HP:0009962 Partial/complete duplication of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009963 Duplication of the middle bone of the middle finger NOT_TRANSLATED -HP:0009963 Partial/complete duplication of the middle phalanx of the 3rd finger NOT_TRANSLATED -HP:0009964 Duplication of the proximal bone of the middle finger NOT_TRANSLATED -HP:0009964 Partial/complete duplication of the proximal phalanx of the 3rd finger NOT_TRANSLATED -HP:0009965 Complete duplication of the outermost bone of the 3rd finger NOT_TRANSLATED -HP:0009966 Complete duplication of the middle bone of the middle finger NOT_TRANSLATED -HP:0009967 Complete duplication of the innermost bone of the 3rd finger NOT_TRANSLATED -HP:0009968 Bifid terminal phalanx of the 3rd finger NOT_TRANSLATED -HP:0009968 Notched outermost bone of the middle finger NOT_TRANSLATED -HP:0009968 Partial duplication of the outermost bone of the middle finger NOT_TRANSLATED -HP:0009969 Partial duplication of the middle bone of the 3rd finger NOT_TRANSLATED -HP:0009970 Partial duplication of the proximal bone of the middle finger NOT_TRANSLATED -HP:0009971 Extra ring finger NOT_TRANSLATED -HP:0009972 Duplication of bones of the ring finger NOT_TRANSLATED -HP:0009972 Partial/complete duplication of phalanges of the 4th finger NOT_TRANSLATED -HP:0009973 Complete duplication of the bones of the ring finger NOT_TRANSLATED -HP:0009974 Partial duplication of the bones of the ring finger NOT_TRANSLATED -HP:0009975 Partial/complete duplication of the distal phalanx of the 4th finger NOT_TRANSLATED -HP:0009975 Partial/complete duplication of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009976 Partial/complete duplication of the middle bone of the ring finger NOT_TRANSLATED -HP:0009976 Partial/complete duplication of the middle phalanx of the 4th finger NOT_TRANSLATED -HP:0009977 Duplication of the proximal bone of the ring finger NOT_TRANSLATED -HP:0009977 Partial/complete duplication of the proximal phalanx of the 4th finger NOT_TRANSLATED -HP:0009978 Complete duplication of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009979 Complete duplication of the middle bone of the ring finger NOT_TRANSLATED -HP:0009980 Complete duplication of the proximal bone of the ring finger NOT_TRANSLATED -HP:0009981 Bifid terminal phalanx of the 4th finger NOT_TRANSLATED -HP:0009981 Notched outermost bone of the ring finger NOT_TRANSLATED -HP:0009981 Partial duplication of the outermost bone of the ring finger NOT_TRANSLATED -HP:0009982 Partial duplication of the middle bone of the ring finger NOT_TRANSLATED -HP:0009983 Partial duplication of the innermost bone of the ring finger NOT_TRANSLATED -HP:0009985 Partial/complete duplication of little finger bone NOT_TRANSLATED -HP:0009985 Partial/complete duplication of phalanges of the 5th finger NOT_TRANSLATED -HP:0009985 Partial/complete duplication of pinkie finger bone NOT_TRANSLATED -HP:0009985 Partial/complete duplication of pinky finger bone NOT_TRANSLATED -HP:0009986 Complete duplication of the little finger bone NOT_TRANSLATED -HP:0009986 Complete duplication of the pinkie finger bone NOT_TRANSLATED -HP:0009986 Complete duplication of the pinky finger bone NOT_TRANSLATED -HP:0009987 Partial duplication of the little finger bone NOT_TRANSLATED -HP:0009987 Partial duplication of the pinkie finger bone NOT_TRANSLATED -HP:0009987 Partial duplication of the pinky finger bone NOT_TRANSLATED -HP:0009988 Duplication of the outermost little finger bone NOT_TRANSLATED -HP:0009988 Duplication of the outermost pinkie finger bone NOT_TRANSLATED -HP:0009988 Duplication of the outermost pinky finger bone NOT_TRANSLATED -HP:0009988 Partial/complete duplication of the distal phalanx of the 5th finger NOT_TRANSLATED -HP:0009989 Duplication of the middle little finger bone NOT_TRANSLATED -HP:0009989 Duplication of the middle pinkie finger bone NOT_TRANSLATED -HP:0009989 Duplication of the middle pinky finger bone NOT_TRANSLATED -HP:0009989 Partial/complete duplication of the middle phalanx of the 5th finger NOT_TRANSLATED -HP:0009990 Duplication of the innermost little finger bone NOT_TRANSLATED -HP:0009990 Duplication of the innermost pinkie finger bone NOT_TRANSLATED -HP:0009990 Duplication of the innermost pinky finger bone NOT_TRANSLATED -HP:0009990 Partial/complete duplication of the proximal phalanx of the 5th finger NOT_TRANSLATED -HP:0009991 Complete duplication of the outermost little finger bone NOT_TRANSLATED -HP:0009991 Complete duplication of the outermost pinkie finger bone NOT_TRANSLATED -HP:0009991 Complete duplication of the outermost pinky finger bone NOT_TRANSLATED -HP:0009992 Complete duplication of the middle little finger bone NOT_TRANSLATED -HP:0009992 Complete duplication of the middle pinkie finger bone NOT_TRANSLATED -HP:0009992 Complete duplication of the middle pinky finger bone NOT_TRANSLATED -HP:0009993 Complete duplication of the innermost little finger bone NOT_TRANSLATED -HP:0009993 Complete duplication of the innermost pinkie finger bone NOT_TRANSLATED -HP:0009993 Complete duplication of the innermost pinky finger bone NOT_TRANSLATED -HP:0009994 Bifid terminal phalanx of the 5th finger NOT_TRANSLATED -HP:0009994 Notched outermost pinky finger bone NOT_TRANSLATED -HP:0009994 Partial duplication of outermost little finger bone NOT_TRANSLATED -HP:0009994 Partial duplication of outermost pinkie finger bone NOT_TRANSLATED -HP:0009994 Partial duplication of outermost pinky finger bone NOT_TRANSLATED -HP:0009995 Partial duplication of the middle little finger bone NOT_TRANSLATED -HP:0009995 Partial duplication of the middle pinkie finger bone NOT_TRANSLATED -HP:0009995 Partial duplication of the middle pinky finger bone NOT_TRANSLATED -HP:0009996 Partial duplication of the innermost little finger bone NOT_TRANSLATED -HP:0009996 Partial duplication of the innermost pinkie finger bone NOT_TRANSLATED -HP:0009996 Partial duplication of the innermost pinky finger bone NOT_TRANSLATED -HP:0009997 Duplication of finger bones NOT_TRANSLATED -HP:0009998 Complete duplication of hand bones NOT_TRANSLATED -HP:0009999 Partial duplication of hand bones NOT_TRANSLATED -HP:0010000 Complete duplication of the innermost bones of the hand NOT_TRANSLATED -HP:0010001 Complete duplication of the outermost bones of the hand NOT_TRANSLATED -HP:0010002 Complete duplication of the middle bones of the hand NOT_TRANSLATED -HP:0010003 Partial duplication of the innermost bones of the hand NOT_TRANSLATED -HP:0010004 Bifid terminal phalanges of the hand NOT_TRANSLATED -HP:0010004 Partial duplication of the outermost bone of the hand NOT_TRANSLATED -HP:0010005 Partial duplication of the middle bones of hand NOT_TRANSLATED -HP:0010006 Duplication of the innermost bones of hand NOT_TRANSLATED -HP:0010006 Partial/complete duplication of the proximal phalanges of the hand NOT_TRANSLATED -HP:0010008 Duplication of the middle bones of hand NOT_TRANSLATED -HP:0010008 Partial/complete duplication of the middle phalanges of the hand NOT_TRANSLATED -HP:0010009 Abnormality of the 1st long bone of hand NOT_TRANSLATED -HP:0010009 Abnormality of the 1st metacarpal NOT_TRANSLATED -HP:0010010 Abnormality of the 2nd long bone of hand NOT_TRANSLATED -HP:0010010 Abnormality of the 2nd metacarpal NOT_TRANSLATED -HP:0010011 Abnormality of the 3rd long bone of hand NOT_TRANSLATED -HP:0010011 Abnormality of the 3rd metacarpal NOT_TRANSLATED -HP:0010012 Abnormality of the 4th long bone of hand NOT_TRANSLATED -HP:0010012 Abnormality of the 4th metacarpal NOT_TRANSLATED -HP:0010013 Abnormality of the 5th long bone of hand NOT_TRANSLATED -HP:0010013 Abnormality of the 5th metacarpal NOT_TRANSLATED -HP:0010014 Abnormality of the end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010015 Absent end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010016 Bracket shaped end part of 1st long bone of hand NOT_TRANSLATED -HP:0010017 Cone-shaped end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010018 Enlarged end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010019 Fragmentation of the end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010020 Irregular end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010021 Increased bone density of end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010023 Small end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010024 Speckled calcifications in the end part of the first long bone of hand NOT_TRANSLATED -HP:0010024 Stippling of the epiphysis of the 1st metacarpal NOT_TRANSLATED -HP:0010025 Triangular end part of the 1st long bone of hand NOT_TRANSLATED -HP:0010026 Absent/small 1st long bone of hand NOT_TRANSLATED -HP:0010026 Absent/underdeveloped 1st long bone of hand NOT_TRANSLATED -HP:0010027 Wide 1st long bone of hand NOT_TRANSLATED -HP:0010028 Bullet-shaped 1st long bone of hand NOT_TRANSLATED -HP:0010029 Curved 1st long bone of hand NOT_TRANSLATED -HP:0010031 Uneven increase in bone density in 1st long bone of hand NOT_TRANSLATED -HP:0010033 Triangular shaped 1st long bone of hand NOT_TRANSLATED -HP:0010034 First metacarpal hypoplasia NOT_TRANSLATED -HP:0010034 First metacarpals hypoplastic NOT_TRANSLATED -HP:0010034 Hypoplastic 1st metacarpal NOT_TRANSLATED -HP:0010034 Short first metacarpal NOT_TRANSLATED -HP:0010034 Short first metacarpals NOT_TRANSLATED -HP:0010034 Shortened 1st long bone of hand NOT_TRANSLATED -HP:0010035 Absent 1st long bone of hand NOT_TRANSLATED -HP:0010035 Absent first metacarpal NOT_TRANSLATED -HP:0010036 Absent/small 2nd long bone of hand NOT_TRANSLATED -HP:0010036 Absent/underdeveloped 2nd long bone of hand NOT_TRANSLATED -HP:0010037 Absent 2nd long bone of hand NOT_TRANSLATED -HP:0010038 Hypoplastic 2nd metacarpal NOT_TRANSLATED -HP:0010038 Rudimentary 2nd metacarpal NOT_TRANSLATED -HP:0010038 Shortened 2nd long bone of hand NOT_TRANSLATED -HP:0010039 Absent/small 3rd long bone of hand NOT_TRANSLATED -HP:0010039 Absent/underdeveloped 3rd long bone of hand NOT_TRANSLATED -HP:0010040 Absent 3rd long bone of hand NOT_TRANSLATED -HP:0010041 Hypoplastic 3rd metacarpal NOT_TRANSLATED -HP:0010041 Short third metacarpals NOT_TRANSLATED -HP:0010041 Shortened 3rd long bone of hand NOT_TRANSLATED -HP:0010041 Small 3rd metacarpals NOT_TRANSLATED -HP:0010042 Absent/small 4th long bone of hand NOT_TRANSLATED -HP:0010042 Absent/underdeveloped 4th long bone of hand NOT_TRANSLATED -HP:0010043 Absent 4th long bone of hand NOT_TRANSLATED -HP:0010044 Hypoplastic fourth metacarpal NOT_TRANSLATED -HP:0010044 Short 4th metacarpals NOT_TRANSLATED -HP:0010044 Short fourth metacarpals NOT_TRANSLATED -HP:0010044 Shortened 4th long bone of hand NOT_TRANSLATED -HP:0010045 Absent/small 5th long bone of hand NOT_TRANSLATED -HP:0010045 Absent/underdeveloped 5th long bone of hand NOT_TRANSLATED -HP:0010046 Absent 5th long bone of hand NOT_TRANSLATED -HP:0010046 Absent 5th metacarpal NOT_TRANSLATED -HP:0010047 Fifth metacarpal hypoplasia NOT_TRANSLATED -HP:0010047 Hypoplastic 5th metacarpal NOT_TRANSLATED -HP:0010047 Short fifth metacarpal NOT_TRANSLATED -HP:0010047 Short fifth metacarpals NOT_TRANSLATED -HP:0010047 Shortened 5th long bone of hand NOT_TRANSLATED -HP:0010048 Absent long bone of hand NOT_TRANSLATED -HP:0010048 Absent metacarpal NOT_TRANSLATED -HP:0010048 Absent metacarpals NOT_TRANSLATED -HP:0010049 Brachymetacarpalia NOT_TRANSLATED -HP:0010049 Hypoplastic metacarpal NOT_TRANSLATED -HP:0010049 Metacarpal hypoplasia NOT_TRANSLATED -HP:0010049 Short metacarpal bones NOT_TRANSLATED -HP:0010049 Short metacarpals NOT_TRANSLATED -HP:0010049 Shortened long bone of hand NOT_TRANSLATED -HP:0010049 Shortened long bones of hand NOT_TRANSLATED -HP:0010049 Shortened metacarpals NOT_TRANSLATED -HP:0010049 Shortening of metacarpals NOT_TRANSLATED -HP:0010051 Displacement of big toe NOT_TRANSLATED -HP:0010051 Displacement of the hallux NOT_TRANSLATED -HP:0010052 Abnormal innermost big toe bone NOT_TRANSLATED -HP:0010052 Abnormality of the proximal phalanx of the hallux NOT_TRANSLATED -HP:0010053 Abnormality of the outermost bone of the big toe NOT_TRANSLATED -HP:0010054 Abnormality of the 1st long bone of foot NOT_TRANSLATED -HP:0010055 Abnormally broad great toes NOT_TRANSLATED -HP:0010055 Broad big toe NOT_TRANSLATED -HP:0010055 Broad great toe NOT_TRANSLATED -HP:0010055 Broad great toes NOT_TRANSLATED -HP:0010055 Broad halluces NOT_TRANSLATED -HP:0010055 Wide big toe NOT_TRANSLATED -HP:0010056 Abnormality of the end part of the big toe bone NOT_TRANSLATED -HP:0010057 Abnormal big toe bones NOT_TRANSLATED -HP:0010057 Abnormality of the phalanges of the hallux NOT_TRANSLATED -HP:0010058 Absent/small big toe bone NOT_TRANSLATED -HP:0010058 Absent/underdeveloped big toe bone NOT_TRANSLATED -HP:0010059 Broad bone of big toe NOT_TRANSLATED -HP:0010059 Broad phalanges of the hallux NOT_TRANSLATED -HP:0010059 Wide bone of big toe NOT_TRANSLATED -HP:0010060 Bullet-shaped bone of big toe NOT_TRANSLATED -HP:0010060 Bullet-shaped phalanges of the hallux NOT_TRANSLATED -HP:0010061 Curve bones of big toe NOT_TRANSLATED -HP:0010061 Curved phalanges of the hallux NOT_TRANSLATED -HP:0010063 Patchy sclerosis of the phalanges of the hallux NOT_TRANSLATED -HP:0010063 Uneven increase in bone density in big toe bone NOT_TRANSLATED -HP:0010064 Fused big toe bones NOT_TRANSLATED -HP:0010064 hallucal symphalangism NOT_TRANSLATED -HP:0010065 Triangular shaped bones of big toe NOT_TRANSLATED -HP:0010066 Duplicated hallux NOT_TRANSLATED -HP:0010066 Duplication of big toe bone NOT_TRANSLATED -HP:0010066 Duplication of great toes NOT_TRANSLATED -HP:0010066 Duplication of phalanx of big toe NOT_TRANSLATED -HP:0010066 Hallucal duplication NOT_TRANSLATED -HP:0010066 Partial/complete duplication of the phalanges of the hallux NOT_TRANSLATED -HP:0010067 Absent/small 1st long bone of foot NOT_TRANSLATED -HP:0010067 Absent/underdeveloped 1st long bone of foot NOT_TRANSLATED -HP:0010068 Broad 1st metatarsal NOT_TRANSLATED -HP:0010068 Enlarged first metatarsal NOT_TRANSLATED -HP:0010068 Wide 1st long bone of foot NOT_TRANSLATED -HP:0010069 Bullet-shaped 1st long bone of foot NOT_TRANSLATED -HP:0010070 Curved 1st long bone of foot NOT_TRANSLATED -HP:0010072 Uneven increase in bone density of the 1st long bone of foot NOT_TRANSLATED -HP:0010073 Fusion involving the 1st long bone of foot NOT_TRANSLATED -HP:0010074 Triangular shaped 1st long bone of foot NOT_TRANSLATED -HP:0010075 Duplicated 1st long bone of foot NOT_TRANSLATED -HP:0010075 Duplicated first metatarsals NOT_TRANSLATED -HP:0010076 Absent/small outermost big toe bone NOT_TRANSLATED -HP:0010076 Absent/underdeveloped outermost big toe bone NOT_TRANSLATED -HP:0010077 Broad outermost bone of big toe NOT_TRANSLATED -HP:0010077 Wide outermost bone of big toe NOT_TRANSLATED -HP:0010078 Bullet-shaped outermost bone of big toe NOT_TRANSLATED -HP:0010079 Curved outermost bone of big toe NOT_TRANSLATED -HP:0010081 Uneven increase in bone density in the outermost bone of big toe NOT_TRANSLATED -HP:0010082 Fused outermost bone of big toe NOT_TRANSLATED -HP:0010083 Triangular shaped outermost bone of the big toe NOT_TRANSLATED -HP:0010084 Duplication of the outermost bone of big toe NOT_TRANSLATED -HP:0010084 Partial/complete duplication of the distal phalanx of the hallux NOT_TRANSLATED -HP:0010085 Absent/small innermost big toe bone NOT_TRANSLATED -HP:0010085 Absent/underdeveloped innermost big toe bone NOT_TRANSLATED -HP:0010086 Broad innermost bone of the big toe NOT_TRANSLATED -HP:0010086 Broad proximal phalanx of the big toe NOT_TRANSLATED -HP:0010087 Bullet-shaped innermost bone of the big toe NOT_TRANSLATED -HP:0010088 Curved innermost bone of the big toe NOT_TRANSLATED -HP:0010090 Uneven increase in bone density in the innermost bone of the big toe NOT_TRANSLATED -HP:0010091 Fused innermost bone of big toe NOT_TRANSLATED -HP:0010092 Triangular shaped innermost bone of big toe NOT_TRANSLATED -HP:0010093 Duplication of the innermost bone of big toe NOT_TRANSLATED -HP:0010094 Complete duplication of the innermost bone of big toe NOT_TRANSLATED -HP:0010095 Partial duplication of the innermost bone of big toe NOT_TRANSLATED -HP:0010096 Complete duplication of the outermost bone of the big toe NOT_TRANSLATED -HP:0010097 Bifid distal phalanx of hallux NOT_TRANSLATED -HP:0010097 Notched outermost bone of big toe NOT_TRANSLATED -HP:0010097 Partial duplication of the outermost bone of big toe NOT_TRANSLATED -HP:0010098 Complete duplication of the 1st long bone of foot NOT_TRANSLATED -HP:0010099 Partial duplication of the 1st long bone of foot NOT_TRANSLATED -HP:0010100 Complete duplication of big toe bones NOT_TRANSLATED -HP:0010100 Complete duplication of the phalanges of the hallux NOT_TRANSLATED -HP:0010101 Partial duplication of big toe NOT_TRANSLATED -HP:0010101 partial duplication of hallux NOT_TRANSLATED -HP:0010102 Absent outermost bone of big toe NOT_TRANSLATED -HP:0010103 Hypoplastic/small distal phalanx of the hallux NOT_TRANSLATED -HP:0010103 Small distal phalanx of big toe NOT_TRANSLATED -HP:0010103 Small distal phalanx of hallux NOT_TRANSLATED -HP:0010103 Small outermost bone of big toe NOT_TRANSLATED -HP:0010104 Absent 1st long bone of foot NOT_TRANSLATED -HP:0010104 Absent 1st metatarsal NOT_TRANSLATED -HP:0010104 Aplasia of the 1st metatarsal NOT_TRANSLATED -HP:0010105 First metatarsal hypoplasia NOT_TRANSLATED -HP:0010105 First metatarsals hypoplastic NOT_TRANSLATED -HP:0010105 Short 1st long bone of foot NOT_TRANSLATED -HP:0010106 Absent innermost bone of big toe NOT_TRANSLATED -HP:0010107 Hypoplastic proximal phalanx of the hallux NOT_TRANSLATED -HP:0010107 Short innermost big toe bone NOT_TRANSLATED -HP:0010107 Short proximal phalanges of halluces NOT_TRANSLATED -HP:0010107 Short proximal phalanx of halluces NOT_TRANSLATED -HP:0010107 Small proximal phalanx of big toe NOT_TRANSLATED -HP:0010107 Small proximal phalanx of hallux NOT_TRANSLATED -HP:0010109 Hypoplastic big toes NOT_TRANSLATED -HP:0010109 Hypoplastic hallux NOT_TRANSLATED -HP:0010109 Short big toe NOT_TRANSLATED -HP:0010109 Short halluces NOT_TRANSLATED -HP:0010109 Small hallux NOT_TRANSLATED -HP:0010110 Absent bone of big toe NOT_TRANSLATED -HP:0010111 Hypoplastic phalanges of the hallux NOT_TRANSLATED -HP:0010111 Short bone of big toe NOT_TRANSLATED -HP:0010112 Central polydactyly of feet NOT_TRANSLATED -HP:0010113 Absent end part of big toe bone NOT_TRANSLATED -HP:0010113 Absent epiphyses of the hallux NOT_TRANSLATED -HP:0010114 Bracket shaped end part of big toe bone NOT_TRANSLATED -HP:0010115 Cone-shaped end part of the big toe bone NOT_TRANSLATED -HP:0010116 Enlarged end part of the big toe bone NOT_TRANSLATED -HP:0010117 Fragmentation of the end part of the big toe bone NOT_TRANSLATED -HP:0010118 Irregular end part of big toe bone NOT_TRANSLATED -HP:0010119 Increased bone density of end part of the big toe bone NOT_TRANSLATED -HP:0010121 Small end part of the big toe bone NOT_TRANSLATED -HP:0010122 Speckled calcifications in the end part of the big toe bone NOT_TRANSLATED -HP:0010123 Triangular end part of the big toe bone NOT_TRANSLATED -HP:0010124 Abnormality of the end part of the outermost bone of the big toe bone NOT_TRANSLATED -HP:0010125 Abnormality of the end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010126 Abnormality of the end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010127 Absent end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010128 Bracket shaped end part of the innermost bone of big toe NOT_TRANSLATED -HP:0010129 Cone-shaped end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010130 Enlarged end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010131 Fragmentation of the end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010132 Irregular end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010133 Increased bone density of end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010135 Small end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010136 Speckled calcifications in the end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010137 Triangular end part of the innermost bone of the big toe NOT_TRANSLATED -HP:0010138 Absent end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010139 Bracket shaped end part of the outermost bone of big toe NOT_TRANSLATED -HP:0010140 Cone-shaped end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010141 Enlarged end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010142 Fragmentation of the end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010143 Irregular end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010144 Increased bone density of end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010146 Small end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010147 Speckled calcifications in the end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010148 Triangular end part of the outermost bone of the big toe NOT_TRANSLATED -HP:0010149 Absent end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010150 Bracket shaped end part of 1st long bone of foot NOT_TRANSLATED -HP:0010151 Cone-shaped end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010152 Enlarged end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010153 Fragmentation of the end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010154 Irregular end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010155 Increased bone density of end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010157 Small end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010158 Speckled calcifications in the end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010159 Triangular end part of the 1st long bone of foot NOT_TRANSLATED -HP:0010160 Abnormality of the end part of the toe bones NOT_TRANSLATED -HP:0010161 Abnormality of the long bones of the toes NOT_TRANSLATED -HP:0010162 Absent end part of the toe bones NOT_TRANSLATED -HP:0010163 Bracket shaped end part of the toe bones NOT_TRANSLATED -HP:0010164 Cone-shaped end part of the toe bones NOT_TRANSLATED -HP:0010165 Enlarged end part of the toe bones NOT_TRANSLATED -HP:0010166 Fragmentation of the end part of the toe bones NOT_TRANSLATED -HP:0010167 Irregular end part of the toe bones NOT_TRANSLATED -HP:0010168 Increased bone density of end part of the toes NOT_TRANSLATED -HP:0010170 Small end part of the toe bones NOT_TRANSLATED -HP:0010171 Speckled calcifications in long toe bones NOT_TRANSLATED -HP:0010171 Stippling of the epiphyses of the toes NOT_TRANSLATED -HP:0010172 Triangular end part of the toe bones NOT_TRANSLATED -HP:0010173 Absent/small toe bones NOT_TRANSLATED -HP:0010173 Absent/underdeveloped toe bones NOT_TRANSLATED -HP:0010174 Wide toe bones NOT_TRANSLATED -HP:0010175 Bullet-shaped phalanges of the toes NOT_TRANSLATED -HP:0010175 Bullet-shaped toe bone NOT_TRANSLATED -HP:0010176 Curved phalanges of the toes NOT_TRANSLATED -HP:0010176 Curved toe bone NOT_TRANSLATED -HP:0010178 Patchy sclerosis of the phalanges of the toes NOT_TRANSLATED -HP:0010178 Uneven increase in bone density in toe bone NOT_TRANSLATED -HP:0010179 Fused toe bones NOT_TRANSLATED -HP:0010180 Triangular shaped toe bones NOT_TRANSLATED -HP:0010181 Duplicated toe bone NOT_TRANSLATED -HP:0010181 Partial/complete duplication of the phalanges of the toes NOT_TRANSLATED -HP:0010182 Abnormality of the outermost bone of the toes NOT_TRANSLATED -HP:0010183 Abnormal middle bones of toe NOT_TRANSLATED -HP:0010184 Abnormal innermost toe bone NOT_TRANSLATED -HP:0010184 Abnormality of the proximal phalanges of the toes NOT_TRANSLATED -HP:0010185 Absent/hypoplastic terminal phalanges of toes NOT_TRANSLATED -HP:0010185 Absent/small outermost bones of toe NOT_TRANSLATED -HP:0010185 Absent/underdeveloped outermost bones of toe NOT_TRANSLATED -HP:0010185 Hypoplasia/agenesis of distal phalanges of toes NOT_TRANSLATED -HP:0010186 Broad outermost bone of the toe NOT_TRANSLATED -HP:0010186 Wide outermost bone of the toe NOT_TRANSLATED -HP:0010187 Bullet-shaped distal phalanges of the toes NOT_TRANSLATED -HP:0010187 Bullet-shaped outermost bone of the toe NOT_TRANSLATED -HP:0010188 Curved distal phalanges of the toes NOT_TRANSLATED -HP:0010188 Curved outermost bone of the toe NOT_TRANSLATED -HP:0010190 Patchy sclerosis of the distal phalanges of the toes NOT_TRANSLATED -HP:0010190 Uneven increase in bone density in outermost toe bone NOT_TRANSLATED -HP:0010191 Fused outermost bones of toes NOT_TRANSLATED -HP:0010192 Triangular shaped outermost bone of the toes NOT_TRANSLATED -HP:0010193 Duplication of outermost bone of toe NOT_TRANSLATED -HP:0010193 Partial/complete duplication of the distal phalanges of the toes NOT_TRANSLATED -HP:0010194 Absent/small middle bones of toe NOT_TRANSLATED -HP:0010194 Absent/underdeveloped middle bones of toe NOT_TRANSLATED -HP:0010195 Broad middle bones of the toes NOT_TRANSLATED -HP:0010196 Bullet-shaped middle bones of the toes NOT_TRANSLATED -HP:0010196 Bullet-shaped middle phalanges of the toes NOT_TRANSLATED -HP:0010197 Curved middle bones of the toes NOT_TRANSLATED -HP:0010197 Curved middle phalanges of the toes NOT_TRANSLATED -HP:0010199 Patchy sclerosis of the middle phalanges of the toes NOT_TRANSLATED -HP:0010199 Uneven increase in bone density in middle toe bone NOT_TRANSLATED -HP:0010200 Fused middle bones of toes NOT_TRANSLATED -HP:0010201 Triangular shaped middle bones of toes NOT_TRANSLATED -HP:0010202 Partial/complete duplication of the middle bones of the toes NOT_TRANSLATED -HP:0010202 Partial/complete duplication of the middle phalanges of the toes NOT_TRANSLATED -HP:0010203 Absent/small innermost toe bones NOT_TRANSLATED -HP:0010203 Absent/underdeveloped innermost toe bones NOT_TRANSLATED -HP:0010203 Aplasia/Hypoplasia of the proximal phalanges of the toes NOT_TRANSLATED -HP:0010204 Broad innermost toe bone NOT_TRANSLATED -HP:0010205 Bullet-shaped innermost toe bone NOT_TRANSLATED -HP:0010205 Bullet-shaped proximal phalanges of the toes NOT_TRANSLATED -HP:0010205 Bullet-shaped proximal phalanges of toe NOT_TRANSLATED -HP:0010206 Curved innermost toe bones NOT_TRANSLATED -HP:0010206 Curved proximal phalanges of the toes NOT_TRANSLATED -HP:0010207 Osteolytic defects of the proximal phalanges of the toes NOT_TRANSLATED -HP:0010208 Patchy sclerosis of the proximal phalanges of the toes NOT_TRANSLATED -HP:0010208 Uneven increase in bone density in innermost toe bone NOT_TRANSLATED -HP:0010209 Fused innermost bones of toes NOT_TRANSLATED -HP:0010210 Triangular shaped innermost toe bones NOT_TRANSLATED -HP:0010211 Duplication of innermost toe bones NOT_TRANSLATED -HP:0010211 Partial/complete duplication of the proximal phalanges of the toes NOT_TRANSLATED -HP:0010212 Joint contracture of the big toe NOT_TRANSLATED -HP:0010212 Joint contracture of the hallux NOT_TRANSLATED -HP:0010220 Abnormality of the end part of the 2nd long bone of hand NOT_TRANSLATED -HP:0010222 Abnormality of the end part of the 3rd long bone of hand NOT_TRANSLATED -HP:0010224 Abnormality of the end part of the 4th long bone of hand NOT_TRANSLATED -HP:0010226 Abnormality of the end part of the long bone of little finger NOT_TRANSLATED -HP:0010226 Abnormality of the end part of the long bone of pinkie finger NOT_TRANSLATED -HP:0010226 Abnormality of the end part of the long bone of pinky finger NOT_TRANSLATED -HP:0010228 Absent end part of fingers NOT_TRANSLATED -HP:0010228 Absent epiphyses of the fingers NOT_TRANSLATED -HP:0010229 Bracket epiphyses of the fingers NOT_TRANSLATED -HP:0010229 Bracket shaped end part of finger bones NOT_TRANSLATED -HP:0010230 Cone-shaped end part of finger bones NOT_TRANSLATED -HP:0010230 Cone-shaped epiphyses of hand NOT_TRANSLATED -HP:0010230 Cone-shaped epiphyses of the fingers NOT_TRANSLATED -HP:0010230 Coned epiphyses of hands NOT_TRANSLATED -HP:0010230 Conical phalangeal epiphyses NOT_TRANSLATED -HP:0010231 Enlarged end part of finger bones NOT_TRANSLATED -HP:0010231 Enlarged epiphyses of the fingers NOT_TRANSLATED -HP:0010231 Enlarged phalangeal epiphyses NOT_TRANSLATED -HP:0010232 Fragmentation of end part of finger bones NOT_TRANSLATED -HP:0010232 Fragmentation of the epiphyses of the fingers NOT_TRANSLATED -HP:0010233 Irregular end part of finger bones NOT_TRANSLATED -HP:0010233 Irregular epiphyses of the fingers NOT_TRANSLATED -HP:0010234 Increased bone density of end part of the hand bones NOT_TRANSLATED -HP:0010234 Ivory epiphyses of the fingers NOT_TRANSLATED -HP:0010234 Sclerotic ivory phalangeal epiphyses NOT_TRANSLATED -HP:0010235 Pseudoepiphysis of the fingers NOT_TRANSLATED -HP:0010236 Small end part of finger bones NOT_TRANSLATED -HP:0010236 Small epiphyses of the fingers NOT_TRANSLATED -HP:0010237 Speckled calcifications in end part of finger bones NOT_TRANSLATED -HP:0010237 Stippling of the epiphyses of the fingers NOT_TRANSLATED -HP:0010237 Stippling of the epiphyses of the phalanges of the hand NOT_TRANSLATED -HP:0010238 Delta-shaped epiphyses of the fingers NOT_TRANSLATED -HP:0010238 Triangular end part of finger bones NOT_TRANSLATED -HP:0010238 Triangular epiphyses of the fingers NOT_TRANSLATED -HP:0010239 Absent middle bones of hand NOT_TRANSLATED -HP:0010239 Absent middle phalanges NOT_TRANSLATED -HP:0010239 Missing middle phalanges NOT_TRANSLATED -HP:0010241 Hypoplasia of the proximal phalanges of the hand NOT_TRANSLATED -HP:0010241 Short innermost finger bones NOT_TRANSLATED -HP:0010241 Short proximal phalanges NOT_TRANSLATED -HP:0010241 Shortening in proximal phalanges NOT_TRANSLATED -HP:0010242 Absent innermost bones NOT_TRANSLATED -HP:0010242 Absent proximal phalanges NOT_TRANSLATED -HP:0010243 Abnormality of the end part of the outermost bone of finger NOT_TRANSLATED -HP:0010244 Abnormality of the end part of the middle hand bones NOT_TRANSLATED -HP:0010245 Abnormality of the end part of the innermost hand bones NOT_TRANSLATED -HP:0010246 Absent end part of the outermost hand bones NOT_TRANSLATED -HP:0010247 Bracket shaped end part of the outermost hand bones NOT_TRANSLATED -HP:0010248 Cone-shaped end part of the outermost hand bones NOT_TRANSLATED -HP:0010249 Enlarged end part of the outermost hand bones NOT_TRANSLATED -HP:0010250 Fragmentation of the end part of the outermost hand bones NOT_TRANSLATED -HP:0010251 Irregular end part of the outermost hand bones NOT_TRANSLATED -HP:0010252 Eburnated epiphyses of distal phalanges NOT_TRANSLATED -HP:0010252 Increased bone density of end part of the outermost hand bones NOT_TRANSLATED -HP:0010254 Small end part of the outermost hand bones NOT_TRANSLATED -HP:0010255 Speckled calcifications in the end part of the outermost hand bones NOT_TRANSLATED -HP:0010256 Triangular end part of the outermost hand bones NOT_TRANSLATED -HP:0010257 Absent end part of the middle hand bones NOT_TRANSLATED -HP:0010258 Bracket shaped end part of the middle hand bones NOT_TRANSLATED -HP:0010259 Cone-shaped end part of the middle hand bones NOT_TRANSLATED -HP:0010259 Cone-shaped epiphyses of middle phalanges NOT_TRANSLATED -HP:0010260 Enlarged end part of the middle hand bones NOT_TRANSLATED -HP:0010261 Fragmentation of the end part of the middle hand bones NOT_TRANSLATED -HP:0010262 Irregular end part of middle hand bones NOT_TRANSLATED -HP:0010263 Increased bone density of end part of the middle hand bones NOT_TRANSLATED -HP:0010265 Small end part of the middle hand bones NOT_TRANSLATED -HP:0010266 Speckled calcifications in the end part of the middle hand bones NOT_TRANSLATED -HP:0010267 Triangular end part of the middle hand bones NOT_TRANSLATED -HP:0010268 Absent end part of the innermost hand bones NOT_TRANSLATED -HP:0010269 Bracket shaped end part of the innermost hand bones NOT_TRANSLATED -HP:0010270 Cone-shaped end part of the innermost hand bones NOT_TRANSLATED -HP:0010271 Enlarged end part of the innermost hand bones NOT_TRANSLATED -HP:0010272 Fragmentation of the end part of the innermost hand bones NOT_TRANSLATED -HP:0010273 Irregular end part of the innermost hand bones NOT_TRANSLATED -HP:0010274 Increased bone density of end part of the innermost hand bones NOT_TRANSLATED -HP:0010276 Small end part of the innermost hand bones NOT_TRANSLATED -HP:0010277 Speckled calcifications in the end part of the innermost hand bones NOT_TRANSLATED -HP:0010278 Triangular end part of the innermost hand bones NOT_TRANSLATED -HP:0010280 Gingivostomatitis NOT_TRANSLATED -HP:0010280 Inflammation of the mouth NOT_TRANSLATED -HP:0010281 Cleft of the lower lip NOT_TRANSLATED -HP:0010281 Lower labial cleft NOT_TRANSLATED -HP:0010282 Decreased height of lower lip vermilion NOT_TRANSLATED -HP:0010282 Decreased volume of lower lip NOT_TRANSLATED -HP:0010282 Decreased volume of lower lip vermilion NOT_TRANSLATED -HP:0010282 Thin lower lip NOT_TRANSLATED -HP:0010282 Thin red part of the lower lip NOT_TRANSLATED -HP:0010282 Thin vermilion border of lower lip NOT_TRANSLATED -HP:0010284 Dark color of gums NOT_TRANSLATED -HP:0010284 Dark colour of gums NOT_TRANSLATED -HP:0010284 Gingival hyperpigmentation NOT_TRANSLATED -HP:0010284 Gingival melanin pigmentation NOT_TRANSLATED -HP:0010284 Hyperpigmentation of oral mucosa NOT_TRANSLATED -HP:0010284 Oral mucosa melanin pigmentation NOT_TRANSLATED -HP:0010284 Oral racial pigmentation NOT_TRANSLATED -HP:0010284 Pigmented gums NOT_TRANSLATED -HP:0010285 Oral fibrous bands NOT_TRANSLATED -HP:0010285 Synechiae of the mouth NOT_TRANSLATED -HP:0010286 Abnormality of the salivary glands NOT_TRANSLATED -HP:0010286 Salivary gland disease NOT_TRANSLATED -HP:0010287 Abnormality of the submaxillary glands NOT_TRANSLATED -HP:0010289 Alveolar ridge cleft NOT_TRANSLATED -HP:0010289 Cleft of alveolar process NOT_TRANSLATED -HP:0010289 Cleft of gum ridge NOT_TRANSLATED -HP:0010289 Notch of alveolar process NOT_TRANSLATED -HP:0010289 Notch of alveolar ridge NOT_TRANSLATED -HP:0010289 Notch of gum ridge NOT_TRANSLATED -HP:0010290 Decreased length of hard palate NOT_TRANSLATED -HP:0010290 Hypoplastic palate NOT_TRANSLATED -HP:0010290 Short palate NOT_TRANSLATED -HP:0010291 Large lateral palatal folds NOT_TRANSLATED -HP:0010291 Large lateral palatal ridges NOT_TRANSLATED -HP:0010291 Prominent lateral palatal folds NOT_TRANSLATED -HP:0010291 Prominent lateral palatal ridges NOT_TRANSLATED -HP:0010291 Prominent palatine folds NOT_TRANSLATED -HP:0010292 Absent palatine uvula NOT_TRANSLATED -HP:0010292 Agenesis of uvula NOT_TRANSLATED -HP:0010292 Congenital absence of uvula NOT_TRANSLATED -HP:0010292 Missing uvula NOT_TRANSLATED -HP:0010292 Uvula aplasia NOT_TRANSLATED -HP:0010293 Aplasia/hypoplasia of palatine uvula NOT_TRANSLATED -HP:0010294 Hole in roof of mouth NOT_TRANSLATED -HP:0010294 Palatal hole NOT_TRANSLATED -HP:0010294 Palatal perforation NOT_TRANSLATED -HP:0010295 Lingual aplasia/hypoplasia NOT_TRANSLATED -HP:0010296 Tongue tie NOT_TRANSLATED -HP:0010296 Tongue tied NOT_TRANSLATED -HP:0010297 Bifurcated tongue NOT_TRANSLATED -HP:0010297 Bilobed tongue NOT_TRANSLATED -HP:0010297 Cleft tongue NOT_TRANSLATED -HP:0010297 Forked tongue NOT_TRANSLATED -HP:0010297 Snake tongue NOT_TRANSLATED -HP:0010297 Split tongue NOT_TRANSLATED -HP:0010298 Atrophy of dorsum of tongue NOT_TRANSLATED -HP:0010298 Atrophy of lingual surface NOT_TRANSLATED -HP:0010298 Atrophy of tongue surface NOT_TRANSLATED -HP:0010298 Smooth dorsum of tongue NOT_TRANSLATED -HP:0010298 Smooth lingual surface NOT_TRANSLATED -HP:0010298 Smooth surface of tongue NOT_TRANSLATED -HP:0010299 Abnormal dentin NOT_TRANSLATED -HP:0010299 Abnormality of dentin NOT_TRANSLATED -HP:0010299 Abnormality of dentine NOT_TRANSLATED -HP:0010299 Dentin anomaly NOT_TRANSLATED -HP:0010301 Incomplete closure of the vertebral arch NOT_TRANSLATED -HP:0010302 Spinal cord tumour NOT_TRANSLATED -HP:0010302 Spinal tumor NOT_TRANSLATED -HP:0010302 Spinal tumors NOT_TRANSLATED -HP:0010302 Spinal tumour NOT_TRANSLATED -HP:0010302 Spinal tumours NOT_TRANSLATED -HP:0010302 Tumor of the spinal cord NOT_TRANSLATED -HP:0010302 Tumour of the spinal cord NOT_TRANSLATED -HP:0010303 Abnormality of the spinal meninges NOT_TRANSLATED -HP:0010305 Absent sacrum NOT_TRANSLATED -HP:0010305 Sacral agenesis NOT_TRANSLATED -HP:0010305 Sacrococcygeal agenesis NOT_TRANSLATED -HP:0010306 Shorter than typical length between neck and abdomen NOT_TRANSLATED -HP:0010307 Noisy breathing NOT_TRANSLATED -HP:0010308 Aplasia of the sternum NOT_TRANSLATED -HP:0010308 Breast bone aplasia NOT_TRANSLATED -HP:0010309 Sternal cleft NOT_TRANSLATED -HP:0010311 Absent/small breasts NOT_TRANSLATED -HP:0010311 Absent/underdeveloped breasts NOT_TRANSLATED -HP:0010313 Breast enlargement NOT_TRANSLATED -HP:0010313 Breasts enlarged NOT_TRANSLATED -HP:0010313 Gigantomastia NOT_TRANSLATED -HP:0010313 Hypertrophy of the breasts NOT_TRANSLATED -HP:0010313 Large breast NOT_TRANSLATED -HP:0010313 Macromastia NOT_TRANSLATED -HP:0010314 Premature breast development NOT_TRANSLATED -HP:0010315 Absent/small diaprhagm NOT_TRANSLATED -HP:0010315 Absent/underdeveloped diaprhagm NOT_TRANSLATED -HP:0010316 Ebstein's anomaly NOT_TRANSLATED -HP:0010316 Ebstein's anomaly of the tricuspid valve NOT_TRANSLATED -HP:0010316 Ebstein's malformation NOT_TRANSLATED -HP:0010317 Absent scapula NOT_TRANSLATED -HP:0010317 Absent shoulder blade NOT_TRANSLATED -HP:0010318 Absent/small abdominal wall muscles NOT_TRANSLATED -HP:0010318 Absent/underdeveloped abdominal wall muscles NOT_TRANSLATED -HP:0010322 Abnormality of the little toe NOT_TRANSLATED -HP:0010322 Abnormality of the pinkie toe NOT_TRANSLATED -HP:0010322 Abnormality of the pinky toe NOT_TRANSLATED -HP:0010323 Abnormality of the end part of the 2nd toe bone NOT_TRANSLATED -HP:0010324 Abnormality of the 2nd toe bone NOT_TRANSLATED -HP:0010325 Absent/small 2nd toe NOT_TRANSLATED -HP:0010325 Absent/underdeveloped 2nd toe NOT_TRANSLATED -HP:0010326 Displacement of the 2nd toe NOT_TRANSLATED -HP:0010327 Joint contractures of the 2nd toe NOT_TRANSLATED -HP:0010329 Abnormality of the end part of the 3rd toe bone NOT_TRANSLATED -HP:0010330 Abnormality of the bones of the 3rd toe NOT_TRANSLATED -HP:0010331 Absent/hypoplastic third toe NOT_TRANSLATED -HP:0010331 Absent/small 3rd toe NOT_TRANSLATED -HP:0010331 Absent/underdeveloped 3rd toe NOT_TRANSLATED -HP:0010332 Displacement of the 3rd toe NOT_TRANSLATED -HP:0010333 Joint contractures of the 3rd toe NOT_TRANSLATED -HP:0010335 Abnormality of the end part of the 4th toe bone NOT_TRANSLATED -HP:0010337 Absent/small 4th toe NOT_TRANSLATED -HP:0010337 Absent/underdeveloped 4th toe NOT_TRANSLATED -HP:0010338 Displacement of the 4th toe NOT_TRANSLATED -HP:0010339 Joint contractures of the 4th toe NOT_TRANSLATED -HP:0010341 Abnormality of the end part of the little toe bone NOT_TRANSLATED -HP:0010341 Abnormality of the end part of the pinkie toe bone NOT_TRANSLATED -HP:0010341 Abnormality of the end part of the pinky toe bone NOT_TRANSLATED -HP:0010342 Abnormality of the little toe bones NOT_TRANSLATED -HP:0010342 Abnormality of the pinkie toe bones NOT_TRANSLATED -HP:0010342 Abnormality of the pinky toe bones NOT_TRANSLATED -HP:0010343 Absent/small little toe NOT_TRANSLATED -HP:0010343 Absent/small pinkie toe NOT_TRANSLATED -HP:0010343 Absent/small pinky toe NOT_TRANSLATED -HP:0010343 Absent/underdeveloped pinky toe NOT_TRANSLATED -HP:0010344 Displacement of the 5th toe NOT_TRANSLATED -HP:0010344 Displacement of the little toe NOT_TRANSLATED -HP:0010344 Displacement of the pinkie toe NOT_TRANSLATED -HP:0010344 Displacement of the pinky toe NOT_TRANSLATED -HP:0010345 Joint contractures of the 5th toe NOT_TRANSLATED -HP:0010347 Absent/small bones of 2nd toe NOT_TRANSLATED -HP:0010347 Absent/underdeveloped bones of 2nd toe NOT_TRANSLATED -HP:0010348 Broad bones of the 2nd toe NOT_TRANSLATED -HP:0010349 Bullet-shaped bones of the 2nd toe NOT_TRANSLATED -HP:0010349 Bullet-shaped phalanges of the 2nd toe NOT_TRANSLATED -HP:0010350 Curved bones of the 2nd toe NOT_TRANSLATED -HP:0010350 Curved phalanges of the 2nd toe NOT_TRANSLATED -HP:0010352 Patchy sclerosis of the phalanges of the 2nd toe NOT_TRANSLATED -HP:0010352 Uneven increase in bone density in 2nd toe bone NOT_TRANSLATED -HP:0010353 2nd toe symphalangism NOT_TRANSLATED -HP:0010353 Fused bones of 2nd toe NOT_TRANSLATED -HP:0010353 Symphalangism affecting the phalanges of the 2nd toe NOT_TRANSLATED -HP:0010354 Triangular shaped bone of 2nd toe NOT_TRANSLATED -HP:0010354 Triangular shaped bone of second toe NOT_TRANSLATED -HP:0010355 Duplication of the bones of the 2nd toe NOT_TRANSLATED -HP:0010355 Partial/complete duplication of the phalanges of the 2nd toe NOT_TRANSLATED -HP:0010356 Abnormality of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010357 Abnormality of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0010358 Abnormality of the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0010359 Absent/small bones of 3rd toe NOT_TRANSLATED -HP:0010359 Absent/underdeveloped bones of 3rd toe NOT_TRANSLATED -HP:0010360 Wide bones of 3rd toe NOT_TRANSLATED -HP:0010361 Bullet-shaped bones of 3rd toe NOT_TRANSLATED -HP:0010361 Bullet-shaped phalanges of the 3rd toe NOT_TRANSLATED -HP:0010362 Curved bones of 3rd toe NOT_TRANSLATED -HP:0010362 Curved phalanges of the 3rd toe NOT_TRANSLATED -HP:0010364 Patchy sclerosis of the phalanges of the 3rd toe NOT_TRANSLATED -HP:0010364 Uneven increase in bone density in 3rd toe bone NOT_TRANSLATED -HP:0010365 Fused bones of 3rd toe NOT_TRANSLATED -HP:0010366 Triangular shaped 3rd toe bones NOT_TRANSLATED -HP:0010367 Duplication of 3rd toe bone NOT_TRANSLATED -HP:0010367 Duplication of phalanx of the third toe NOT_TRANSLATED -HP:0010367 Partial/complete duplication of the phalanges of the 3rd toe NOT_TRANSLATED -HP:0010368 Abnormality of the outermost bone of the 3rd toe NOT_TRANSLATED -HP:0010369 Abnormality of the middle bone of 3rd toe NOT_TRANSLATED -HP:0010370 Abnormality of the innermost bone of 3rd toe NOT_TRANSLATED -HP:0010371 Absent/small bones of 4th toe NOT_TRANSLATED -HP:0010371 Absent/underdeveloped bones of 4th toe NOT_TRANSLATED -HP:0010372 Broad bones of the 4th toe NOT_TRANSLATED -HP:0010373 Bullet-shaped bones of the 4th toe NOT_TRANSLATED -HP:0010373 Bullet-shaped phalanges of the 4th toe NOT_TRANSLATED -HP:0010374 Curved bones of 4th toe NOT_TRANSLATED -HP:0010374 Curved phalanges of the 4th toe NOT_TRANSLATED -HP:0010376 Patchy sclerosis of the phalanges of the 4th toe NOT_TRANSLATED -HP:0010376 Uneven increase in bone density in 4th toe bone NOT_TRANSLATED -HP:0010377 Fused bones of 4th toe NOT_TRANSLATED -HP:0010378 Triangular shaped bones of 4th toe NOT_TRANSLATED -HP:0010379 Duplication of 4th toe bone NOT_TRANSLATED -HP:0010379 Duplication of phalanx of the fourth toe NOT_TRANSLATED -HP:0010379 Partial/complete duplication of the phalanges of the 4th toe NOT_TRANSLATED -HP:0010380 Abnormality of the outermost 4th toe bone NOT_TRANSLATED -HP:0010381 Abnormality of middle 4th toe bone NOT_TRANSLATED -HP:0010382 Abnormal innermost 4th toe bone NOT_TRANSLATED -HP:0010383 Absent/small little toe bones NOT_TRANSLATED -HP:0010383 Absent/small pinkie toe bones NOT_TRANSLATED -HP:0010383 Absent/small pinky toe bones NOT_TRANSLATED -HP:0010383 Absent/underdeveloped pinky toe bones NOT_TRANSLATED -HP:0010384 Broad bones of the little toe NOT_TRANSLATED -HP:0010384 Broad bones of the pinkie toe NOT_TRANSLATED -HP:0010384 Broad bones of the pinky toe NOT_TRANSLATED -HP:0010385 Bullet-shaped bones of the little toe NOT_TRANSLATED -HP:0010385 Bullet-shaped bones of the pinkie toe NOT_TRANSLATED -HP:0010385 Bullet-shaped bones of the pinky toe NOT_TRANSLATED -HP:0010385 Bullet-shaped phalanges of the 5th toe NOT_TRANSLATED -HP:0010386 Curved little toe bones NOT_TRANSLATED -HP:0010386 Curved phalanges of the 5th toe NOT_TRANSLATED -HP:0010386 Curved pinkie toe bones NOT_TRANSLATED -HP:0010386 Curved pinky toe bones NOT_TRANSLATED -HP:0010388 Patchy sclerosis of the phalanges of the 5th toe NOT_TRANSLATED -HP:0010388 Uneven increase in bone density in little toe bone NOT_TRANSLATED -HP:0010388 Uneven increase in bone density in pinkie toe bone NOT_TRANSLATED -HP:0010388 Uneven increase in bone density in pinky toe bone NOT_TRANSLATED -HP:0010389 Fused bones in the little toe NOT_TRANSLATED -HP:0010389 Fused bones in the pinkie toe NOT_TRANSLATED -HP:0010389 Fused bones in the pinky toe NOT_TRANSLATED -HP:0010390 Triangular shaped little toe bone NOT_TRANSLATED -HP:0010390 Triangular shaped pinkie toe bone NOT_TRANSLATED -HP:0010390 Triangular shaped pinky toe bone NOT_TRANSLATED -HP:0010391 Duplication of the bones of the little toe NOT_TRANSLATED -HP:0010391 Duplication of the bones of the pinkie toe NOT_TRANSLATED -HP:0010391 Duplication of the bones of the pinky toe NOT_TRANSLATED -HP:0010391 Duplication of the phalanges of the fifth toe NOT_TRANSLATED -HP:0010391 Partial/complete duplication of the phalanges of the 5th toe NOT_TRANSLATED -HP:0010392 Abnormality of the outermost bone of the little toe NOT_TRANSLATED -HP:0010392 Abnormality of the outermost bone of the pinkie toe NOT_TRANSLATED -HP:0010392 Abnormality of the outermost bone of the pinky toe NOT_TRANSLATED -HP:0010393 Abnormality of the middle bone of the little toe NOT_TRANSLATED -HP:0010393 Abnormality of the middle bone of the pinkie toe NOT_TRANSLATED -HP:0010393 Abnormality of the middle bone of the pinky toe NOT_TRANSLATED -HP:0010394 Abnormality of the innermost bone of the little toe NOT_TRANSLATED -HP:0010394 Abnormality of the innermost bone of the pinkie toe NOT_TRANSLATED -HP:0010394 Abnormality of the innermost bone of the pinky toe NOT_TRANSLATED -HP:0010395 Absent/small innermost 2nd toe bone NOT_TRANSLATED -HP:0010395 Absent/underdeveloped innermost 2nd toe bone NOT_TRANSLATED -HP:0010396 Broad innermost bone of 2nd toe NOT_TRANSLATED -HP:0010397 Bullet-shaped innermost bone of 2nd toe NOT_TRANSLATED -HP:0010398 Curved innermost bone of 2nd toe NOT_TRANSLATED -HP:0010400 Uneven increase in bone density in the innermost bone of the 2nd toe NOT_TRANSLATED -HP:0010401 Fused innermost bone of the 2nd toe NOT_TRANSLATED -HP:0010402 Triangular shaped innermost 2nd toe bone NOT_TRANSLATED -HP:0010403 Duplication of innermost 2nd toe bone NOT_TRANSLATED -HP:0010403 Duplication of the proximal phalanx of the second toe NOT_TRANSLATED -HP:0010403 Partial/complete duplication of the proximal phalanx of the 2nd toe NOT_TRANSLATED -HP:0010404 Absent/small middle bone of 2nd toe NOT_TRANSLATED -HP:0010404 Absent/underdeveloped middle bone of 2nd toe NOT_TRANSLATED -HP:0010405 Broad middle bone of 2nd toe NOT_TRANSLATED -HP:0010406 Bullet-shaped middle bone of 2nd toe NOT_TRANSLATED -HP:0010407 Curved middle bone of 2nd toe NOT_TRANSLATED -HP:0010409 Uneven increase in bone density in the middle bone of the 2nd toe NOT_TRANSLATED -HP:0010410 Fused middle bone of 2nd toe NOT_TRANSLATED -HP:0010411 Triangular shaped middle bone of 2nd toe NOT_TRANSLATED -HP:0010412 Duplication of middle bone of 2nd toe NOT_TRANSLATED -HP:0010412 Partial/complete duplication of the middle phalanx of the 2nd toe NOT_TRANSLATED -HP:0010413 Absent/small outermost 2nd toe bone NOT_TRANSLATED -HP:0010413 Absent/underdeveloped outermost 2nd toe bone NOT_TRANSLATED -HP:0010414 Broad outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010414 Wide outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010415 Bullet-shaped outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010416 Curved outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010418 Uneven increase in bone density in the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010419 Fused outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010420 Triangular shaped outermost 2nd toe bone NOT_TRANSLATED -HP:0010421 Duplication of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010421 Partial/complete duplication of the distal phalanx of the 2nd toe NOT_TRANSLATED -HP:0010422 Complete duplication of the innermost 2nd toe bone NOT_TRANSLATED -HP:0010422 Complete duplication of the proximal phalanx of the second toe NOT_TRANSLATED -HP:0010423 Partial duplication of the innermost 2nd toe bone NOT_TRANSLATED -HP:0010423 Partial duplication of the proximal phalanx of the second toe NOT_TRANSLATED -HP:0010424 Complete duplication of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010425 Partial duplication of the outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010426 Complete duplication of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0010427 Partial duplication of the middle bone of the 2nd toe NOT_TRANSLATED -HP:0010428 Partial duplication of 2nd toe bone NOT_TRANSLATED -HP:0010429 Complete duplication of the 2nd toe bones NOT_TRANSLATED -HP:0010430 Absent 2nd toe bones NOT_TRANSLATED -HP:0010431 Hypoplastic/small phalanges of the 2nd toe NOT_TRANSLATED -HP:0010431 Short 2nd toe bone NOT_TRANSLATED -HP:0010431 Short phalanx of the second toe NOT_TRANSLATED -HP:0010432 Absent distal phalanx of the second toe NOT_TRANSLATED -HP:0010432 Absent outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010432 Aplasia of the distal phalanx of the 2nd toe NOT_TRANSLATED -HP:0010433 Hypoplastic/small distal phalanx of the 2nd toe NOT_TRANSLATED -HP:0010433 Short distal phalanx of the second toe NOT_TRANSLATED -HP:0010433 Short outermost bone of the 2nd toe NOT_TRANSLATED -HP:0010434 Absent middle bone of 2nd toe NOT_TRANSLATED -HP:0010435 Hypoplastic/small middle phalanx of the 2nd toe NOT_TRANSLATED -HP:0010435 Short middle 2nd toe bone NOT_TRANSLATED -HP:0010435 Short middle phalanx of the second toe NOT_TRANSLATED -HP:0010436 Absent innermost 2nd toe bone NOT_TRANSLATED -HP:0010437 Hypoplastic/small proximal phalanx of the 2nd toe NOT_TRANSLATED -HP:0010437 Short innermost 2nd toe bone NOT_TRANSLATED -HP:0010437 Short proximal phalanx of the second toe NOT_TRANSLATED -HP:0010438 Abnormal interventricular septum morphology NOT_TRANSLATED -HP:0010438 Abnormality of the ventricular septum NOT_TRANSLATED -HP:0010438 Ventricular septum abnormality NOT_TRANSLATED -HP:0010442 More than five fingers or toes on hands or feet NOT_TRANSLATED -HP:0010443 Notched thighbone NOT_TRANSLATED -HP:0010443 Split thighbone NOT_TRANSLATED -HP:0010444 Pulmonary incompetence NOT_TRANSLATED -HP:0010444 Pulmonary valve regurgitation NOT_TRANSLATED -HP:0010444 Pulmonic regurgitation NOT_TRANSLATED -HP:0010444 Puolmonary valve insufficiency NOT_TRANSLATED -HP:0010445 Atrial septal defect, primum type NOT_TRANSLATED -HP:0010445 Ostium primum atrial septal defect NOT_TRANSLATED -HP:0010445 Primum atrioventricular canal defect NOT_TRANSLATED -HP:0010445 Septum primum defect NOT_TRANSLATED -HP:0010447 Fistula in ano NOT_TRANSLATED -HP:0010448 Atresia of the large intestine NOT_TRANSLATED -HP:0010448 Large intestinal atresia NOT_TRANSLATED -HP:0010450 Narrowing of the esophagus NOT_TRANSLATED -HP:0010450 Narrowing of the oesophagus NOT_TRANSLATED -HP:0010451 Absent/small spleen NOT_TRANSLATED -HP:0010451 Absent/underdeveloped spleen NOT_TRANSLATED -HP:0010452 Abnormal spleen location NOT_TRANSLATED -HP:0010452 Ectopic spleen NOT_TRANSLATED -HP:0010453 Asymmetric pelvis NOT_TRANSLATED -HP:0010453 Pelvic asymmetry NOT_TRANSLATED -HP:0010456 Abnormality of greater sciatic notch NOT_TRANSLATED -HP:0010456 Abnormality of the greater sacrosciatic notch NOT_TRANSLATED -HP:0010456 Abnormality of the sacroiliac notch NOT_TRANSLATED -HP:0010459 Testicular and ovarian tissue present NOT_TRANSLATED -HP:0010461 Abnormal male genitals NOT_TRANSLATED -HP:0010462 Absent/small ovary NOT_TRANSLATED -HP:0010462 Absent/underdeveloped ovary NOT_TRANSLATED -HP:0010463 Absent ovary NOT_TRANSLATED -HP:0010463 Aplasia of the ovaries NOT_TRANSLATED -HP:0010463 Bilateral absent ovaries NOT_TRANSLATED -HP:0010468 Absent/small testes NOT_TRANSLATED -HP:0010468 Absent/underdeveloped testes NOT_TRANSLATED -HP:0010469 Absence of palpable testicules NOT_TRANSLATED -HP:0010469 Absent testes NOT_TRANSLATED -HP:0010469 Aplasia of the testes NOT_TRANSLATED -HP:0010470 Extra testes NOT_TRANSLATED -HP:0010470 Polyorchidism NOT_TRANSLATED -HP:0010476 Absent/small bladder NOT_TRANSLATED -HP:0010476 Absent/underdeveloped bladder NOT_TRANSLATED -HP:0010477 Absent bladder NOT_TRANSLATED -HP:0010479 Persistent urachus NOT_TRANSLATED -HP:0010484 Increased size of upper limb NOT_TRANSLATED -HP:0010487 Hypoplasia of the hypothenar eminence NOT_TRANSLATED -HP:0010487 Hypothenar hypoplasia NOT_TRANSLATED -HP:0010488 Absent/small palm crease NOT_TRANSLATED -HP:0010488 Absent/underdeveloped palm crease NOT_TRANSLATED -HP:0010489 Absence of the palmar creases NOT_TRANSLATED -HP:0010489 Absent palm lines NOT_TRANSLATED -HP:0010489 Aplasia of the palmar creases NOT_TRANSLATED -HP:0010490 Abnormality of the palm lines NOT_TRANSLATED -HP:0010491 Amniotic constriction rings of digits NOT_TRANSLATED -HP:0010492 Osseous syndactyly of the fingers NOT_TRANSLATED -HP:0010493 Elongated long bone of hand NOT_TRANSLATED -HP:0010493 Increased length of metacarpals NOT_TRANSLATED -HP:0010497 Sympodia NOT_TRANSLATED -HP:0010499 Partial knee cap dislocation NOT_TRANSLATED -HP:0010499 Subluxation of patella NOT_TRANSLATED -HP:0010501 Limited knee movement NOT_TRANSLATED -HP:0010502 Bowed calf bone NOT_TRANSLATED -HP:0010503 Duplicated calf bone NOT_TRANSLATED -HP:0010504 Increased length of shankbone NOT_TRANSLATED -HP:0010504 Increased length of shinbone NOT_TRANSLATED -HP:0010506 Abnormal dermatoglyphics on feet NOT_TRANSLATED -HP:0010506 Abnormal prints on feet NOT_TRANSLATED -HP:0010509 Absent ankle bone NOT_TRANSLATED -HP:0010509 Absent tarsals NOT_TRANSLATED -HP:0010511 Increased length of toes NOT_TRANSLATED -HP:0010511 Long toes NOT_TRANSLATED -HP:0010515 Absent/small thymus NOT_TRANSLATED -HP:0010515 Absent/underdeveloped thymus NOT_TRANSLATED -HP:0010515 Thymic hypoplasia or aplasia NOT_TRANSLATED -HP:0010516 Enlarged thymus NOT_TRANSLATED -HP:0010516 Thymic hyperplasia NOT_TRANSLATED -HP:0010517 Abnormal thymus position NOT_TRANSLATED -HP:0010518 Thyroglossal duct cyst NOT_TRANSLATED -HP:0010519 Fetal hyperkinesia NOT_TRANSLATED -HP:0010519 Foetal hyperkinesia NOT_TRANSLATED -HP:0010519 Increased foetal movement NOT_TRANSLATED -HP:0010522 Reading disability NOT_TRANSLATED -HP:0010523 Text blindness NOT_TRANSLATED -HP:0010523 Word blindness NOT_TRANSLATED -HP:0010527 Astereognosis NOT_TRANSLATED -HP:0010527 Somatosensory agnosia NOT_TRANSLATED -HP:0010528 Face blindness NOT_TRANSLATED -HP:0010528 Facial agnosia NOT_TRANSLATED -HP:0010529 Echoing another person's speech NOT_TRANSLATED -HP:0010529 Echologia NOT_TRANSLATED -HP:0010529 Echophrasia NOT_TRANSLATED -HP:0010529 Repeated speech NOT_TRANSLATED -HP:0010530 Palatal myoclonus NOT_TRANSLATED -HP:0010535 Pauses in breathing while sleeping NOT_TRANSLATED -HP:0010535 Sleep apnoea NOT_TRANSLATED -HP:0010536 Central sleep apnoea NOT_TRANSLATED -HP:0010537 Broad cranial sutures NOT_TRANSLATED -HP:0010537 Large cranial suture NOT_TRANSLATED -HP:0010537 open cranial sutures NOT_TRANSLATED -HP:0010537 Persistent open cranial sutures NOT_TRANSLATED -HP:0010537 Widened cranial sutures NOT_TRANSLATED -HP:0010538 Hypoplasia of hypophseal fossa NOT_TRANSLATED -HP:0010538 Hypoplasia of pituitary fossa NOT_TRANSLATED -HP:0010538 Hypoplasia of sella turcica NOT_TRANSLATED -HP:0010538 Small hypophyseal fossa NOT_TRANSLATED -HP:0010538 Small pituitary fossa NOT_TRANSLATED -HP:0010539 Thin cranial bone NOT_TRANSLATED -HP:0010539 Thin skull bone NOT_TRANSLATED -HP:0010541 Cutis verticis gyrata NOT_TRANSLATED -HP:0010541 Furrows in thickened skin on top of scalp NOT_TRANSLATED -HP:0010541 Scalp folds NOT_TRANSLATED -HP:0010541 Scalp furrows NOT_TRANSLATED -HP:0010541 Scalp rugae NOT_TRANSLATED -HP:0010541 Thickened folds on top of scalp NOT_TRANSLATED -HP:0010541 Thickening of the scalp NOT_TRANSLATED -HP:0010546 EMG: fibrillations on electromyogram NOT_TRANSLATED -HP:0010546 Twitching NOT_TRANSLATED -HP:0010548 Transient swelling of muscle induced by percussion NOT_TRANSLATED -HP:0010549 Paralysis due to lesions of the principle motor tracts NOT_TRANSLATED -HP:0010550 Leg paralysis NOT_TRANSLATED -HP:0010554 Cutaneous syndactyly of fingers NOT_TRANSLATED -HP:0010554 Cutaneous syndactyly of hands NOT_TRANSLATED -HP:0010554 Webbed fingers NOT_TRANSLATED -HP:0010554 Webbed skin of fingers NOT_TRANSLATED -HP:0010560 Wavy clavicles NOT_TRANSLATED -HP:0010560 Wavy collarbone NOT_TRANSLATED -HP:0010561 Wavy ribs NOT_TRANSLATED -HP:0010567 Y-shaped long bone of foot NOT_TRANSLATED -HP:0010569 Elevated levels of cholesta-5,7-dien-3beta-ol NOT_TRANSLATED -HP:0010570 Low maternal serum alpha-fetoprotein NOT_TRANSLATED -HP:0010571 Elevated level of phytanic acid NOT_TRANSLATED -HP:0010571 Elevated levels of phytanic acid NOT_TRANSLATED -HP:0010574 Abnormality of the end part of the innermost thighbone NOT_TRANSLATED -HP:0010574 Abnormality of the proximal femoral epiphysis NOT_TRANSLATED -HP:0010575 Abnormality of femoral head development NOT_TRANSLATED -HP:0010575 Dysplastic femoral head NOT_TRANSLATED -HP:0010576 Cerebral cystic malformation NOT_TRANSLATED -HP:0010577 Absent end part of bone NOT_TRANSLATED -HP:0010578 Bracket shaped end part of long bone NOT_TRANSLATED -HP:0010579 Cone-shaped end part of bone NOT_TRANSLATED -HP:0010579 Cone-shaped epiphyses NOT_TRANSLATED -HP:0010579 Coned epiphyses NOT_TRANSLATED -HP:0010580 Large end part of bone NOT_TRANSLATED -HP:0010580 Large epiphyses NOT_TRANSLATED -HP:0010580 Widened, distorted epiphyses NOT_TRANSLATED -HP:0010582 Irregular end part of long bone NOT_TRANSLATED -HP:0010583 Epiphyseal sclerosis NOT_TRANSLATED -HP:0010583 Increased bone density in end part of bone NOT_TRANSLATED -HP:0010585 Small end part of bone NOT_TRANSLATED -HP:0010587 Triangular end part of bone NOT_TRANSLATED -HP:0010588 Premature closure of epiphyses NOT_TRANSLATED -HP:0010590 Abnormality of the end part of the outermost thighbone NOT_TRANSLATED -HP:0010591 Abnormality of the end part of innermost shankbone NOT_TRANSLATED -HP:0010591 Abnormality of the end part of innermost shinbone NOT_TRANSLATED -HP:0010592 Abnormality of the end part of outermost shankbone NOT_TRANSLATED -HP:0010592 Abnormality of the end part of outermost shinbone NOT_TRANSLATED -HP:0010593 Abnormality of the end part of the calf bone NOT_TRANSLATED -HP:0010594 Abnormality of the innermost end part of calf bone NOT_TRANSLATED -HP:0010595 Abnormality of the outermost end part of calf bone NOT_TRANSLATED -HP:0010598 Abnormality of the end part of the innermost long bone in upper arm NOT_TRANSLATED -HP:0010599 Abnormality of the end part of the outermost long bone in upper arm NOT_TRANSLATED -HP:0010600 Abnormality of the distal ulnar epiphysis NOT_TRANSLATED -HP:0010601 Abnormality of the proximal ulnar epiphysis NOT_TRANSLATED -HP:0010602 Type 2 muscle fibre predominance NOT_TRANSLATED -HP:0010602 Type II muscle fiber predominance NOT_TRANSLATED -HP:0010602 Type II muscle fibre predominance NOT_TRANSLATED -HP:0010603 Keratocystic odontogenic tumor NOT_TRANSLATED -HP:0010603 Keratocystic odontogenic tumour NOT_TRANSLATED -HP:0010603 Keratocysts of the jaw NOT_TRANSLATED -HP:0010604 Eyelid bump NOT_TRANSLATED -HP:0010604 Eyelid mass NOT_TRANSLATED -HP:0010604 Lesion of the eyelid NOT_TRANSLATED -HP:0010605 Meibomian gland lipogranuloma NOT_TRANSLATED -HP:0010606 Red bump on eyelid NOT_TRANSLATED -HP:0010606 Stye of eyelid NOT_TRANSLATED -HP:0010608 Red bump on inner eyelid NOT_TRANSLATED -HP:0010608 Stye of inner eyelid NOT_TRANSLATED -HP:0010609 Acrochorda NOT_TRANSLATED -HP:0010619 Breast fibroadenoma NOT_TRANSLATED -HP:0010619 Breast fibroadenomas NOT_TRANSLATED -HP:0010619 Breast fibroadenosis NOT_TRANSLATED -HP:0010619 Fibroadenosis - breast NOT_TRANSLATED -HP:0010619 Fibroadenosis of breast NOT_TRANSLATED -HP:0010620 Hyperplasia of malar bones NOT_TRANSLATED -HP:0010620 Malar excess NOT_TRANSLATED -HP:0010620 Malar hyperplasia NOT_TRANSLATED -HP:0010620 Prominent malar region NOT_TRANSLATED -HP:0010621 Cutaneous syndactyly of feet NOT_TRANSLATED -HP:0010621 soft tissue syndactyly of toes NOT_TRANSLATED -HP:0010621 Webbed skin of toes NOT_TRANSLATED -HP:0010622 Bone neoplasm NOT_TRANSLATED -HP:0010622 Neoplasia of the skeletal system NOT_TRANSLATED -HP:0010622 Skeletal tumor NOT_TRANSLATED -HP:0010622 Skeletal tumour NOT_TRANSLATED -HP:0010624 Absent/small toenails NOT_TRANSLATED -HP:0010624 Absent/underdeveloped toenails NOT_TRANSLATED -HP:0010624 Aplastic/hypoplastic toenails NOT_TRANSLATED -HP:0010624 Hypoplastic-absent toenails NOT_TRANSLATED -HP:0010625 Adenohypophysis NOT_TRANSLATED -HP:0010626 Absent pituitary gland NOT_TRANSLATED -HP:0010626 Aplasia of the pituitary gland NOT_TRANSLATED -HP:0010627 Hypoplasia of the pituitary gland NOT_TRANSLATED -HP:0010627 Underdeveloped pituitary gland NOT_TRANSLATED -HP:0010628 Bell's palsy NOT_TRANSLATED -HP:0010628 Cranial nerve VII palsy NOT_TRANSLATED -HP:0010628 Facial muscle weakness of muscles innervated by CN VII NOT_TRANSLATED -HP:0010628 Facial nerve palsy NOT_TRANSLATED -HP:0010628 Facial nerve paralysis NOT_TRANSLATED -HP:0010628 Facial palsy, unilateral or bilateral NOT_TRANSLATED -HP:0010628 Seventh cranial nerve palsy NOT_TRANSLATED -HP:0010628 VII th cranial nerve palsy NOT_TRANSLATED -HP:0010630 Abnormality of end part of long bone of foot NOT_TRANSLATED -HP:0010630 Abnormality of the epiphyses of the metatarsals NOT_TRANSLATED -HP:0010631 Abnormality of the end part of the foot bone NOT_TRANSLATED -HP:0010638 Elevated ALP of hepatic origin NOT_TRANSLATED -HP:0010639 Elevated ALP of bone origin NOT_TRANSLATED -HP:0010639 Increased serum bone-specific alkaline phosphatase NOT_TRANSLATED -HP:0010644 Midnasal atresia or stenosis NOT_TRANSLATED -HP:0010645 Absent outermost bone of the toes NOT_TRANSLATED -HP:0010648 Translucent skin NOT_TRANSLATED -HP:0010649 Depressed nasal alae NOT_TRANSLATED -HP:0010649 Flat nasal alar cartilage NOT_TRANSLATED -HP:0010650 Decreased size of premaxilla NOT_TRANSLATED -HP:0010650 Decreased size of the primary palate bone NOT_TRANSLATED -HP:0010650 Hypoplasia of the intermaxillary bone NOT_TRANSLATED -HP:0010650 Hypoplasia of the primary palate bone NOT_TRANSLATED -HP:0010650 Premaxillary bone deficiency NOT_TRANSLATED -HP:0010650 Premaxillary bone retrusion NOT_TRANSLATED -HP:0010650 Premaxillary retrusion NOT_TRANSLATED -HP:0010650 Premaxillary underdevelopment NOT_TRANSLATED -HP:0010650 Primary palate bone deficiency NOT_TRANSLATED -HP:0010650 Primary palate bone retrusion NOT_TRANSLATED -HP:0010650 Small premaxilla NOT_TRANSLATED -HP:0010650 Small primary palate bone NOT_TRANSLATED -HP:0010650 Underdevelopment of premaxilla NOT_TRANSLATED -HP:0010650 Underdevelopment of the premaxilla NOT_TRANSLATED -HP:0010650 Underdevelopment of the primary palate bone NOT_TRANSLATED -HP:0010651 Abnormality of the meninges NOT_TRANSLATED -HP:0010652 Abnormality of the dura mater NOT_TRANSLATED -HP:0010653 Abnormality of the cerebral falx NOT_TRANSLATED -HP:0010654 Absent cerebral falx NOT_TRANSLATED -HP:0010655 Epiphyseal punctate calcifications NOT_TRANSLATED -HP:0010655 Speckled calcifications in end part of bone NOT_TRANSLATED -HP:0010655 Stippled epiphyses NOT_TRANSLATED -HP:0010655 Stippling of the epiphyses NOT_TRANSLATED -HP:0010656 Abnormal maturation of the end part of a bone NOT_TRANSLATED -HP:0010656 Abnormality of the mineralisation or ossification of the epiphyses NOT_TRANSLATED -HP:0010659 Patchy increased and decreased bone mineral density NOT_TRANSLATED -HP:0010660 Abnormal maturation of the hand bones NOT_TRANSLATED -HP:0010660 Abnormal ossification of hand bones NOT_TRANSLATED -HP:0010660 Abnormality of the mineralisation and ossification of bones of the hand NOT_TRANSLATED -HP:0010663 Abnormal shape of thalamus NOT_TRANSLATED -HP:0010663 Abnormality of the thalamus NOT_TRANSLATED -HP:0010664 Fused thalami NOT_TRANSLATED -HP:0010664 Fusion of thamali NOT_TRANSLATED -HP:0010664 Undivided thalami NOT_TRANSLATED -HP:0010666 Decreased length of anterior nasal spine NOT_TRANSLATED -HP:0010666 Decreased projection of anterior nasal spine NOT_TRANSLATED -HP:0010666 Decreased size of anterior nasal spine NOT_TRANSLATED -HP:0010666 Deficiency of anterior nasal spine NOT_TRANSLATED -HP:0010666 Hypotrophic anterior nasal spine NOT_TRANSLATED -HP:0010666 Small anterior nasal spine NOT_TRANSLATED -HP:0010666 Underdevelopment of anterior nasal spine NOT_TRANSLATED -HP:0010667 Absence of the maxilla NOT_TRANSLATED -HP:0010667 Absence of upper jaw bones NOT_TRANSLATED -HP:0010667 Agenesis of the maxilla NOT_TRANSLATED -HP:0010667 Aplasia of the upper jaw bones NOT_TRANSLATED -HP:0010667 Failure of development of maxilla NOT_TRANSLATED -HP:0010667 Failure of development of upper jaw bones NOT_TRANSLATED -HP:0010667 Missing upper jaw bones NOT_TRANSLATED -HP:0010668 Abnormal malar bone morphology NOT_TRANSLATED -HP:0010668 Abnormality of the cheekbone NOT_TRANSLATED -HP:0010668 Abnormality of the zygomatic bone NOT_TRANSLATED -HP:0010668 Anomaly of the zygomatic bone NOT_TRANSLATED -HP:0010668 Deformity of the cheekbone NOT_TRANSLATED -HP:0010668 Deformity of the zygomatic bone NOT_TRANSLATED -HP:0010668 Malformation of the zygomatic bone NOT_TRANSLATED -HP:0010669 Cheekbone underdevelopment NOT_TRANSLATED -HP:0010669 Decreased size of cheekbone NOT_TRANSLATED -HP:0010669 Decreased size of zygomatic bone NOT_TRANSLATED -HP:0010669 Depressed cheekbone NOT_TRANSLATED -HP:0010669 Depressed zygomatic bone NOT_TRANSLATED -HP:0010669 Flattening of the zygomatic bone NOT_TRANSLATED -HP:0010669 Hypoplasia of cheekbone NOT_TRANSLATED -HP:0010669 Hypotrophic cheekbone NOT_TRANSLATED -HP:0010669 Hypotrophic zygomatic bone NOT_TRANSLATED -HP:0010669 Hypotrophy of the cheekbone NOT_TRANSLATED -HP:0010669 Hypotrophy of the zygomatic bone NOT_TRANSLATED -HP:0010669 Small cheekbone NOT_TRANSLATED -HP:0010669 Small malar bone NOT_TRANSLATED -HP:0010669 Small zygomatic bone NOT_TRANSLATED -HP:0010669 Underdevelopment of cheekbone NOT_TRANSLATED -HP:0010669 Underdevelopment of zygomatic bone NOT_TRANSLATED -HP:0010672 Abnormality of the 3rd long bone of foot NOT_TRANSLATED -HP:0010674 Abnormal curve of the backbone NOT_TRANSLATED -HP:0010674 Abnormal curve of the spine NOT_TRANSLATED -HP:0010674 Abnormal curving of the spine NOT_TRANSLATED -HP:0010674 Curvature of spine NOT_TRANSLATED -HP:0010674 Curved spine NOT_TRANSLATED -HP:0010675 Abnormal maturation of foot bones NOT_TRANSLATED -HP:0010675 Abnormal ossification involving bones of the feet NOT_TRANSLATED -HP:0010675 Abnormality of the mineralisation and ossification of bones of the feet NOT_TRANSLATED -HP:0010677 Nocturnal enuresis NOT_TRANSLATED -HP:0010679 Elevated alkaline phosphatase, liver/bone/kidney NOT_TRANSLATED -HP:0010679 Elevated tissue non-specific ALP NOT_TRANSLATED -HP:0010680 Elevated ALP of renal origin NOT_TRANSLATED -HP:0010681 Elevated intestinal ALP NOT_TRANSLATED -HP:0010682 Elevated placental ALP NOT_TRANSLATED -HP:0010683 Low tissue non-specific ALP NOT_TRANSLATED -HP:0010684 Low ALP of bone origin NOT_TRANSLATED -HP:0010685 Low ALP of renal origin NOT_TRANSLATED -HP:0010686 Low ALP of hepatic origin NOT_TRANSLATED -HP:0010687 Low intestinal ALP NOT_TRANSLATED -HP:0010688 Low placental ALP NOT_TRANSLATED -HP:0010689 Mirror image duplication of digits NOT_TRANSLATED -HP:0010690 Mirror image dupliction of fingers NOT_TRANSLATED -HP:0010691 Mirror image dupliction of toes NOT_TRANSLATED -HP:0010692 Webbed 2nd-5th fingers NOT_TRANSLATED -HP:0010692 Webbed index, middle and little finger NOT_TRANSLATED -HP:0010692 Webbed index, middle and pinkie finger NOT_TRANSLATED -HP:0010692 Webbed index, middle and pinky finger NOT_TRANSLATED -HP:0010697 Pyramidal cataract NOT_TRANSLATED -HP:0010698 cataracta pulverulenta centralis NOT_TRANSLATED -HP:0010698 Central pulverulent cataract NOT_TRANSLATED -HP:0010698 Coppock-like cataract NOT_TRANSLATED -HP:0010698 Pulverulent nuclear cataract NOT_TRANSLATED -HP:0010701 Abnormal immunoglobulin concentration NOT_TRANSLATED -HP:0010701 Abnormal serum immunoglobulin concentration NOT_TRANSLATED -HP:0010701 Abnormal serum immunoglobulin levels NOT_TRANSLATED -HP:0010701 Abnormal serum level of immunoglobulin NOT_TRANSLATED -HP:0010701 Immunoglobulin abnormality NOT_TRANSLATED -HP:0010702 Elevated immunoglobulin levels NOT_TRANSLATED -HP:0010702 Hypergammaglobulinaemia NOT_TRANSLATED -HP:0010702 Hypergammaglobulinemia NOT_TRANSLATED -HP:0010702 Hyperglobulinemia NOT_TRANSLATED -HP:0010702 Increased antibody level in blood NOT_TRANSLATED -HP:0010702 Increased gamma globulin NOT_TRANSLATED -HP:0010702 Increased immunoglobulin level NOT_TRANSLATED -HP:0010702 Increased serum gamma globulin NOT_TRANSLATED -HP:0010702 Raised immunoglobulin levels NOT_TRANSLATED -HP:0010704 Webbed 1st-2nd finger NOT_TRANSLATED -HP:0010704 Webbed thumb and index finger NOT_TRANSLATED -HP:0010705 Webbed 4th-5th finger NOT_TRANSLATED -HP:0010706 Webbed 1st-3rd finger NOT_TRANSLATED -HP:0010707 Webbed 1st-4th finger NOT_TRANSLATED -HP:0010708 Webbed 1-5 fingers NOT_TRANSLATED -HP:0010708 Webbed 1st-5th fingers NOT_TRANSLATED -HP:0010709 Syndactyly of second to fourth fingers NOT_TRANSLATED -HP:0010709 Webbed index through ring fingers NOT_TRANSLATED -HP:0010710 Webbed third, fourth and fifth toes NOT_TRANSLATED -HP:0010711 Webbed 1st-2nd toes NOT_TRANSLATED -HP:0010711 Webbed first and second toes NOT_TRANSLATED -HP:0010712 Webbed first through fourth toes NOT_TRANSLATED -HP:0010713 Syndactyly of all toes NOT_TRANSLATED -HP:0010713 Webbed 1st-5th toes NOT_TRANSLATED -HP:0010714 Syndactyly of toes 2, 3 and 4 NOT_TRANSLATED -HP:0010714 Syndactyly toes 2-4 NOT_TRANSLATED -HP:0010714 Webbed 2nd-4th toes NOT_TRANSLATED -HP:0010715 Webbed 2nd-5th toes NOT_TRANSLATED -HP:0010716 Webbed 3rd-5th toes NOT_TRANSLATED -HP:0010717 Osseous syndactyly of the toes NOT_TRANSLATED -HP:0010719 Abnormality of hair consistency NOT_TRANSLATED -HP:0010719 Abnormality of hair curl pattern NOT_TRANSLATED -HP:0010719 Abnormality of hair volume NOT_TRANSLATED -HP:0010720 Abnormal distribution of hair NOT_TRANSLATED -HP:0010721 Abnormal hair whorls NOT_TRANSLATED -HP:0010721 Abnormal whorl of hair NOT_TRANSLATED -HP:0010722 Asymmetric ears NOT_TRANSLATED -HP:0010726 Prominent corneal nerve fibres NOT_TRANSLATED -HP:0010726 Visible corneal nerve fibers NOT_TRANSLATED -HP:0010726 Visible corneal nerve fibres NOT_TRANSLATED -HP:0010728 Absent retina NOT_TRANSLATED -HP:0010729 Macular cherry red spot NOT_TRANSLATED -HP:0010730 Duplication of eyebrow NOT_TRANSLATED -HP:0010732 Eyelid nodules NOT_TRANSLATED -HP:0010733 Port-wine stain on eyelid NOT_TRANSLATED -HP:0010741 Dependant edema NOT_TRANSLATED -HP:0010741 Dependant oedema NOT_TRANSLATED -HP:0010741 Edema of the lower limbs NOT_TRANSLATED -HP:0010741 Fluid accumulation in lower limbs NOT_TRANSLATED -HP:0010741 Leg edema NOT_TRANSLATED -HP:0010741 Leg oedema NOT_TRANSLATED -HP:0010741 Lower leg swelling NOT_TRANSLATED -HP:0010741 Oedema of the lower limbs NOT_TRANSLATED -HP:0010741 Pedal oedema NOT_TRANSLATED -HP:0010741 Peripheral edema of lower extremity NOT_TRANSLATED -HP:0010741 Peripheral oedema of lower extremity NOT_TRANSLATED -HP:0010742 Fluid accumulation in upper limbs NOT_TRANSLATED -HP:0010742 Oedema of the upper limbs NOT_TRANSLATED -HP:0010743 Hypoplasia of the metatarsal bones NOT_TRANSLATED -HP:0010743 Hypoplastic metatarsals NOT_TRANSLATED -HP:0010743 Short long bone of foot NOT_TRANSLATED -HP:0010743 Short metatarsal bone NOT_TRANSLATED -HP:0010743 Short metatarsal bones NOT_TRANSLATED -HP:0010743 Short metatarsals NOT_TRANSLATED -HP:0010743 Shortened metatarsals NOT_TRANSLATED -HP:0010744 Absent long bone of foot NOT_TRANSLATED -HP:0010744 Aplasia of the metatarsal bones NOT_TRANSLATED -HP:0010745 Absent bones of the toes NOT_TRANSLATED -HP:0010745 Aphalangia of the toes NOT_TRANSLATED -HP:0010746 Small toe bones NOT_TRANSLATED -HP:0010747 Medially flared eyebrows NOT_TRANSLATED -HP:0010748 Abnormal position of the lacrimal punctum NOT_TRANSLATED -HP:0010749 Saggy upper eyelid skin NOT_TRANSLATED -HP:0010750 Baggy eyes NOT_TRANSLATED -HP:0010750 Droopy eyelid skin NOT_TRANSLATED -HP:0010750 Extra eyelid skin NOT_TRANSLATED -HP:0010750 Eyelid dermatochalasia NOT_TRANSLATED -HP:0010750 Hooding of eyelids NOT_TRANSLATED -HP:0010750 Redundant eyelid skin NOT_TRANSLATED -HP:0010751 Chin butt NOT_TRANSLATED -HP:0010751 Chin dent NOT_TRANSLATED -HP:0010751 Chin dimple NOT_TRANSLATED -HP:0010751 Chin dimples NOT_TRANSLATED -HP:0010751 Chin skin dimple NOT_TRANSLATED -HP:0010751 Gelasin of chin NOT_TRANSLATED -HP:0010751 Indentation of chin NOT_TRANSLATED -HP:0010752 Cleft lower jaw NOT_TRANSLATED -HP:0010752 Mandibular cleft NOT_TRANSLATED -HP:0010753 Midline cleft of mandible NOT_TRANSLATED -HP:0010754 Abnormality of the jaw joint NOT_TRANSLATED -HP:0010754 Anomaly of the temporomandibular joint NOT_TRANSLATED -HP:0010754 Deformity of the jaw joint NOT_TRANSLATED -HP:0010754 Deformity of the temporomandibular joint NOT_TRANSLATED -HP:0010754 Derangement of the temporomandibular joint NOT_TRANSLATED -HP:0010754 Malformation of jaw joint NOT_TRANSLATED -HP:0010754 Malformation of the temporomandibular joint NOT_TRANSLATED -HP:0010755 Asymmetry of right and left side of the maxilla NOT_TRANSLATED -HP:0010755 Asymmetry of the upper jaw NOT_TRANSLATED -HP:0010755 Asymmetry of upper jaw NOT_TRANSLATED -HP:0010755 Canted maxilla NOT_TRANSLATED -HP:0010755 Canted upper jaw NOT_TRANSLATED -HP:0010755 Crooked maxilla NOT_TRANSLATED -HP:0010755 Crooked upper jaw NOT_TRANSLATED -HP:0010755 Deviation of the maxilla NOT_TRANSLATED -HP:0010755 Deviation of the upper jaw NOT_TRANSLATED -HP:0010755 Tilted maxilla NOT_TRANSLATED -HP:0010755 Tilted upper jaw NOT_TRANSLATED -HP:0010755 Unequal sides of maxilla NOT_TRANSLATED -HP:0010755 Uneven maxilla NOT_TRANSLATED -HP:0010755 Uneven upper jaw NOT_TRANSLATED -HP:0010756 Aplasia/hypoplasia of the intermaxillary bone NOT_TRANSLATED -HP:0010756 Aplasia/hypoplasia of the primary palate bone NOT_TRANSLATED -HP:0010757 Absence of the intermaxillary bone NOT_TRANSLATED -HP:0010757 Absence of the premaxilla NOT_TRANSLATED -HP:0010757 Absence of the primary palate bone NOT_TRANSLATED -HP:0010757 Aplasia of the intermaxillary bone NOT_TRANSLATED -HP:0010757 Aplasia of the primary palate bone NOT_TRANSLATED -HP:0010757 Failure of development of premaxilla NOT_TRANSLATED -HP:0010757 Failure of development of the primary palate bone NOT_TRANSLATED -HP:0010757 Missing premaxilla NOT_TRANSLATED -HP:0010757 Missing primary palate bone NOT_TRANSLATED -HP:0010758 Abnormality of the intermaxillary bone NOT_TRANSLATED -HP:0010758 Abnormality of the intermaxillary segment of the maxilla NOT_TRANSLATED -HP:0010758 Abnormality of the premaxillary bone NOT_TRANSLATED -HP:0010758 Abnormality of the primary palate bone NOT_TRANSLATED -HP:0010759 Anterior position of the premaxilla NOT_TRANSLATED -HP:0010759 Anterior position of the primary palate bone NOT_TRANSLATED -HP:0010759 Premaxillary bone excess NOT_TRANSLATED -HP:0010759 Prominence of the intermaxillary bone NOT_TRANSLATED -HP:0010759 Prominence of the primary palate bone NOT_TRANSLATED -HP:0010759 Prominent premaxilla NOT_TRANSLATED -HP:0010760 Absent toes NOT_TRANSLATED -HP:0010760 Aplasia of the toes NOT_TRANSLATED -HP:0010760 Aplasia of toe NOT_TRANSLATED -HP:0010761 Columella, broad NOT_TRANSLATED -HP:0010761 Columella, wide NOT_TRANSLATED -HP:0010761 Fullness of columella NOT_TRANSLATED -HP:0010761 Hyperplasia of columella NOT_TRANSLATED -HP:0010761 Increased width of columella NOT_TRANSLATED -HP:0010763 Ala higher than columella NOT_TRANSLATED -HP:0010763 Columella, low insertion NOT_TRANSLATED -HP:0010764 Decreased length of eyelashes NOT_TRANSLATED -HP:0010769 Pilonidal cyst NOT_TRANSLATED -HP:0010771 Sacrococcygeal fistula NOT_TRANSLATED -HP:0010773 Partial anomalous pulmonary venous connection NOT_TRANSLATED -HP:0010774 Triatrial heart NOT_TRANSLATED -HP:0010775 Vascular ring of aorta NOT_TRANSLATED -HP:0010779 Large pelvis NOT_TRANSLATED -HP:0010780 Loudness intolerance NOT_TRANSLATED -HP:0010780 Sensitivity to noise NOT_TRANSLATED -HP:0010781 Skin dimples NOT_TRANSLATED -HP:0010782 Acromial dimple NOT_TRANSLATED -HP:0010782 Bi-acromial dimples NOT_TRANSLATED -HP:0010782 Shoulder dimples NOT_TRANSLATED -HP:0010783 Redness of skin or mucous membrane NOT_TRANSLATED -HP:0010784 Uterine cancer NOT_TRANSLATED -HP:0010784 Uterine neoplasia NOT_TRANSLATED -HP:0010784 Uterine tumor NOT_TRANSLATED -HP:0010784 Uterine tumour NOT_TRANSLATED -HP:0010785 Gonadal neoplasia NOT_TRANSLATED -HP:0010786 Urinary tract neoplasia NOT_TRANSLATED -HP:0010787 Genital neoplasia NOT_TRANSLATED -HP:0010787 Genital tumor NOT_TRANSLATED -HP:0010787 Genital tumour NOT_TRANSLATED -HP:0010788 Testicular cancer NOT_TRANSLATED -HP:0010788 Testicular neoplasia NOT_TRANSLATED -HP:0010788 Testicular tumor NOT_TRANSLATED -HP:0010788 Testicular tumour NOT_TRANSLATED -HP:0010793 duplicated nail NOT_TRANSLATED -HP:0010793 Notched nail NOT_TRANSLATED -HP:0010797 Haemangioblastoma NOT_TRANSLATED -HP:0010798 Ephelis of lip NOT_TRANSLATED -HP:0010798 Labial lentigo NOT_TRANSLATED -HP:0010798 Lip lentigo NOT_TRANSLATED -HP:0010800 Agenesis of cupid's bow NOT_TRANSLATED -HP:0010800 Aplasia of cupid's bow NOT_TRANSLATED -HP:0010800 Failure of development of cupid's bow NOT_TRANSLATED -HP:0010800 Lack of cupid's bow NOT_TRANSLATED -HP:0010800 Missing cupid's bow NOT_TRANSLATED -HP:0010801 Flat nasolabial fold NOT_TRANSLATED -HP:0010801 Nasolabial crease, hypoplastic NOT_TRANSLATED -HP:0010801 Nasolabial crease, underdeveloped NOT_TRANSLATED -HP:0010801 Nasolabial fold, hypoplastic NOT_TRANSLATED -HP:0010801 Shallow nasolabial fold NOT_TRANSLATED -HP:0010802 Darkening of skin around the mouth NOT_TRANSLATED -HP:0010802 Increased pigmentation around the mouth NOT_TRANSLATED -HP:0010803 Drooping upper lip NOT_TRANSLATED -HP:0010803 Eclabium of upper lip NOT_TRANSLATED -HP:0010803 Everted prominent upper lip NOT_TRANSLATED -HP:0010803 Everted upper lip NOT_TRANSLATED -HP:0010803 Outward turned upper lip NOT_TRANSLATED -HP:0010803 Protruding upper lip NOT_TRANSLATED -HP:0010804 Inverted V-shaped upper lip NOT_TRANSLATED -HP:0010804 Tented mouth NOT_TRANSLATED -HP:0010804 Tented upper lip NOT_TRANSLATED -HP:0010805 Upturned mouth NOT_TRANSLATED -HP:0010805 Upturned oral commisures NOT_TRANSLATED -HP:0010806 Carp-like mouth NOT_TRANSLATED -HP:0010806 Carp-shaped mouth NOT_TRANSLATED -HP:0010806 Fish mouth NOT_TRANSLATED -HP:0010806 Large, carp-shaped mouth NOT_TRANSLATED -HP:0010806 Wide, carp-shaped mouth NOT_TRANSLATED -HP:0010807 Absence of overlap of upper and lower teeth NOT_TRANSLATED -HP:0010807 Open bite between upper and lower teeth NOT_TRANSLATED -HP:0010808 Lingual prolapse NOT_TRANSLATED -HP:0010808 Lingual prominence NOT_TRANSLATED -HP:0010808 Lingual protrusion NOT_TRANSLATED -HP:0010808 Prolapse of tongue NOT_TRANSLATED -HP:0010808 Prominent tongue NOT_TRANSLATED -HP:0010808 Tongue protrusion NOT_TRANSLATED -HP:0010808 Tongue sticking out of mouth NOT_TRANSLATED -HP:0010809 Wide uvula NOT_TRANSLATED -HP:0010810 Elongated uvula NOT_TRANSLATED -HP:0010810 Hyperplasia of uvula NOT_TRANSLATED -HP:0010810 Long palatine uvula NOT_TRANSLATED -HP:0010811 Narrow palatine uvula NOT_TRANSLATED -HP:0010811 Thin uvula NOT_TRANSLATED -HP:0010812 Blunt uvula NOT_TRANSLATED -HP:0010812 Hypoplastic uvula NOT_TRANSLATED -HP:0010812 Short palatine uvula NOT_TRANSLATED -HP:0010813 Abnormal number of hair swirls NOT_TRANSLATED -HP:0010813 Double crown (hair whorls) NOT_TRANSLATED -HP:0010813 Extra hair swirls NOT_TRANSLATED -HP:0010813 Extra hair whorl NOT_TRANSLATED -HP:0010813 Supernumary hair swirls NOT_TRANSLATED -HP:0010813 Supernumary hair whorl NOT_TRANSLATED -HP:0010814 Abnormal location of hair swirl NOT_TRANSLATED -HP:0010815 Naevus sebaceous NOT_TRANSLATED -HP:0010815 Organoid nevus NOT_TRANSLATED -HP:0010815 Sebaceous mole NOT_TRANSLATED -HP:0010815 Sebaceous naevus NOT_TRANSLATED -HP:0010815 Sebaceous nevus NOT_TRANSLATED -HP:0010816 Epidermal nevi NOT_TRANSLATED -HP:0010818 Generalised hypertonic seizure NOT_TRANSLATED -HP:0010818 Generalised tonic seizure NOT_TRANSLATED -HP:0010818 Generalised tonic seizures NOT_TRANSLATED -HP:0010818 Generalized hypertonic seizure NOT_TRANSLATED -HP:0010818 Generalized tonic seizures NOT_TRANSLATED -HP:0010818 Hypertonic seizures NOT_TRANSLATED -HP:0010819 Astatic seizure NOT_TRANSLATED -HP:0010819 Astatic seizures NOT_TRANSLATED -HP:0010819 Atonic seizures NOT_TRANSLATED -HP:0010819 Drop attacks NOT_TRANSLATED -HP:0010819 Drop seizures NOT_TRANSLATED -HP:0010819 Hypotonic seizure NOT_TRANSLATED -HP:0010819 Hypotonic seizures NOT_TRANSLATED -HP:0010819 Sudden loss of muscle tone NOT_TRANSLATED -HP:0010820 Dacrystic seizure NOT_TRANSLATED -HP:0010820 Dacrystic seizures NOT_TRANSLATED -HP:0010821 Gelastic seizure NOT_TRANSLATED -HP:0010821 Gelastic seizures NOT_TRANSLATED -HP:0010823 Cranial suture ridges NOT_TRANSLATED -HP:0010824 Afwijking van de nervus trigeminus CANDIDATE -HP:0010824 Afwijking van de nervus trigeminus CANDIDATE -HP:0010825 Abnormality of cranial nerve XI NOT_TRANSLATED -HP:0010825 Abnormality of the accessory nerve NOT_TRANSLATED -HP:0010826 Abnormality of cranial nerve 12 NOT_TRANSLATED -HP:0010826 Abnormality of cranial nerve xii NOT_TRANSLATED -HP:0010826 Abnormality of the hypoglossal nerve NOT_TRANSLATED -HP:0010827 Afwijking van de nervus facialis CANDIDATE -HP:0010828 Hemifacial spasms NOT_TRANSLATED -HP:0010828 Spasms on one side of the face NOT_TRANSLATED -HP:0010829 Abnormality of temperature sensation NOT_TRANSLATED -HP:0010829 Impaired thermal sensitivity NOT_TRANSLATED -HP:0010829 Loss of temperature sensation NOT_TRANSLATED -HP:0010830 Abnormal thigmesthesia NOT_TRANSLATED -HP:0010830 Impaired touch sensation NOT_TRANSLATED -HP:0010830 Loss of tactile sensation NOT_TRANSLATED -HP:0010831 Abnormality of proprioception NOT_TRANSLATED -HP:0010834 Trophic changes NOT_TRANSLATED -HP:0010836 Abnormal copper levels NOT_TRANSLATED -HP:0010837 Decreased serum ceruloplasmin NOT_TRANSLATED -HP:0010837 Decreased serum ceruloplasminA NOT_TRANSLATED -HP:0010837 Hypoceruloplasminaemia NOT_TRANSLATED -HP:0010837 Hypoceruloplasminemia NOT_TRANSLATED -HP:0010841 Multifocal EEG abnormality NOT_TRANSLATED -HP:0010843 EEG: focal slow activity NOT_TRANSLATED -HP:0010843 EEG: localised slow activity NOT_TRANSLATED -HP:0010843 EEG: localized slow activity NOT_TRANSLATED -HP:0010845 EEG with generalised slow activity NOT_TRANSLATED -HP:0010845 EEG: generalised slow activity NOT_TRANSLATED -HP:0010845 EEG: generalized slow activity NOT_TRANSLATED -HP:0010846 EEG: persistent abnormal rhythmic activity NOT_TRANSLATED -HP:0010847 Electroencephalogram demonstrated spike-slow wave discharges NOT_TRANSLATED -HP:0010849 EEG with 3-4-Hz spike waves NOT_TRANSLATED -HP:0010852 Photoparoxysmal response on EEG NOT_TRANSLATED -HP:0010853 EEG: periodic lateralized epileptiform discharges NOT_TRANSLATED -HP:0010854 EEG with generalised low amplitude activity NOT_TRANSLATED -HP:0010854 EEG: generalised low amplitude activity NOT_TRANSLATED -HP:0010855 EEG with localised low amplitude activity NOT_TRANSLATED -HP:0010855 EEG: localised low amplitude activity NOT_TRANSLATED -HP:0010856 EEG: periodic complexes NOT_TRANSLATED -HP:0010856 Radermecker complexes NOT_TRANSLATED -HP:0010857 EEG: periodic abnormalities NOT_TRANSLATED -HP:0010864 Early and severe mental retardation NOT_TRANSLATED -HP:0010864 Mental retardation, severe NOT_TRANSLATED -HP:0010864 Severe mental retardation NOT_TRANSLATED -HP:0010866 Congenital anterior abdominal wall defect NOT_TRANSLATED -HP:0010871 Afferent ataxia NOT_TRANSLATED -HP:0010871 Ataxia, sensory NOT_TRANSLATED -HP:0010871 Spinal ataxia NOT_TRANSLATED -HP:0010872 EKG: T-wave inversion NOT_TRANSLATED -HP:0010874 Tendon xanthomas NOT_TRANSLATED -HP:0010876 Abnormal circulating protein level NOT_TRANSLATED -HP:0010876 Abnormality of circulating protein level NOT_TRANSLATED -HP:0010876 Blood protein disease NOT_TRANSLATED -HP:0010876 Serum protein abnormality NOT_TRANSLATED -HP:0010877 Unilateral strabismus NOT_TRANSLATED -HP:0010878 Foetal cystic hygroma NOT_TRANSLATED -HP:0010881 Umbilical cord issue NOT_TRANSLATED -HP:0010883 Aortic atresia NOT_TRANSLATED -HP:0010885 Aseptic bone necrosis NOT_TRANSLATED -HP:0010885 Aseptic necrosis NOT_TRANSLATED -HP:0010885 Bone infarction NOT_TRANSLATED -HP:0010885 Death of bone due to decreased blood supply NOT_TRANSLATED -HP:0010885 Ischaemic bone necrosis NOT_TRANSLATED -HP:0010885 Ischemic bone necrosis NOT_TRANSLATED -HP:0010885 Osteochondronecrosis NOT_TRANSLATED -HP:0010885 Osteonecrosis NOT_TRANSLATED -HP:0010886 Osteochondrosis dissecans NOT_TRANSLATED -HP:0010889 Kienboeck's disease NOT_TRANSLATED -HP:0010889 Kienböck's disease NOT_TRANSLATED -HP:0010889 Lunatomalacia NOT_TRANSLATED -HP:0010890 Osgood Schlatter disease NOT_TRANSLATED -HP:0010891 Calve disease NOT_TRANSLATED -HP:0010891 Juvenile osteochondrosis of the spine NOT_TRANSLATED -HP:0010891 Scheuermann disease NOT_TRANSLATED -HP:0010891 Scheuermann kyphosis NOT_TRANSLATED -HP:0010891 Sherman's Disease NOT_TRANSLATED -HP:0010893 Abnormality of phenylalanine metabolism NOT_TRANSLATED -HP:0010894 Abnormality of serine family amino acid metabolism NOT_TRANSLATED -HP:0010896 High plasma sarcosine levels NOT_TRANSLATED -HP:0010897 High urine sarcosine levels NOT_TRANSLATED -HP:0010900 Abnormality of threonine metabolism NOT_TRANSLATED -HP:0010901 Abnormality of methionine metabolism NOT_TRANSLATED -HP:0010904 Abnormality of histidine metabolism NOT_TRANSLATED -HP:0010906 High blood histidine level NOT_TRANSLATED -HP:0010906 Histidinemia NOT_TRANSLATED -HP:0010908 Abnormality of lysine metabolism NOT_TRANSLATED -HP:0010909 Abnormality of arginine metabolism NOT_TRANSLATED -HP:0010910 High blood valine concentration NOT_TRANSLATED -HP:0010911 High blood leucine concentration NOT_TRANSLATED -HP:0010913 High blood isoleucine concentration NOT_TRANSLATED -HP:0010914 Abnormality of valine metabolism NOT_TRANSLATED -HP:0010915 Abnormality of pyruvate family amino acid metabolism NOT_TRANSLATED -HP:0010916 Abnormality of alanine metabolism NOT_TRANSLATED -HP:0010926 Fasciculiform cataract NOT_TRANSLATED -HP:0010926 Frosted cataract NOT_TRANSLATED -HP:0010926 Needle-shaped cataract NOT_TRANSLATED -HP:0010927 Abnormality of divalent inorganic cation homeostasis NOT_TRANSLATED -HP:0010929 Abnormality of cation homeostasis NOT_TRANSLATED -HP:0010930 Abnormality of monovalent inorganic cation homeostasis NOT_TRANSLATED -HP:0010931 Abnormal blood Na+ levels NOT_TRANSLATED -HP:0010931 Abnormal circulating Na concentration NOT_TRANSLATED -HP:0010931 Abnormality of sodium homeostasis NOT_TRANSLATED -HP:0010932 Abnormal nucleoside levels NOT_TRANSLATED -HP:0010933 Increased circulating xanthine concentration NOT_TRANSLATED -HP:0010934 Increased urinary xanthine NOT_TRANSLATED -HP:0010937 Abnormality of the nasal skeleton NOT_TRANSLATED -HP:0010937 Anomaly of the nasal skeleton NOT_TRANSLATED -HP:0010937 Deformity of the bones of the nose NOT_TRANSLATED -HP:0010937 Deformity of the nasal skeleton NOT_TRANSLATED -HP:0010937 Distortion of the bones of the nose NOT_TRANSLATED -HP:0010937 Distortion of the nasal skeleton NOT_TRANSLATED -HP:0010937 Malformation of the bones of the nose NOT_TRANSLATED -HP:0010937 Malformation of the nasal skeleton NOT_TRANSLATED -HP:0010938 Abnormality of the external nose NOT_TRANSLATED -HP:0010938 Anomaly of the external nose NOT_TRANSLATED -HP:0010938 Deformity of the external nose NOT_TRANSLATED -HP:0010938 Malformation of the external nose NOT_TRANSLATED -HP:0010939 Abnormality of the nasal bone NOT_TRANSLATED -HP:0010939 Anomaly of the nasal bones NOT_TRANSLATED -HP:0010939 Deformity of the nasal bones NOT_TRANSLATED -HP:0010939 Malformation of the nasal bones NOT_TRANSLATED -HP:0010941 Absence of the nasal bone NOT_TRANSLATED -HP:0010941 Agenesis of the nasal bone NOT_TRANSLATED -HP:0010941 Failure of development of the nasal bone NOT_TRANSLATED -HP:0010941 Lack of development of the nasal bone NOT_TRANSLATED -HP:0010941 Missing nasal bone NOT_TRANSLATED -HP:0010943 Echogenic bowel NOT_TRANSLATED -HP:0010943 Echogenic foetal bowel NOT_TRANSLATED -HP:0010944 Abnormality of the renal pelvis NOT_TRANSLATED -HP:0010945 Fetal renal pelvic dilatation NOT_TRANSLATED -HP:0010945 Foetal pyelectasis NOT_TRANSLATED -HP:0010945 Foetal renal pelvic dilatation NOT_TRANSLATED -HP:0010945 Mild fetal hydronephrosis NOT_TRANSLATED -HP:0010945 Mild foetal hydronephrosis NOT_TRANSLATED -HP:0010948 Abnormality of the fetal cardiovascular system NOT_TRANSLATED -HP:0010948 Abnormality of the fetal circulation system NOT_TRANSLATED -HP:0010948 Abnormality of the foetal cardiovascular system NOT_TRANSLATED -HP:0010948 Abnormality of the foetal circulation system NOT_TRANSLATED -HP:0010950 Abnormality of the fourth ventricle NOT_TRANSLATED -HP:0010951 Abnormality of the third ventricle NOT_TRANSLATED -HP:0010952 Mild foetal ventriculomegaly NOT_TRANSLATED -HP:0010954 Hypoplastic right heart syndrome NOT_TRANSLATED -HP:0010954 Underdeveloped right heart NOT_TRANSLATED -HP:0010956 Foetal megacystis NOT_TRANSLATED -HP:0010957 Posterior urethral valve NOT_TRANSLATED -HP:0010957 Posterior urethral valves NOT_TRANSLATED -HP:0010959 CCAM NOT_TRANSLATED -HP:0010959 Congenital cystic adenomatoid malformation of the lung NOT_TRANSLATED -HP:0010959 Congenital cystic disease of the lung NOT_TRANSLATED -HP:0010959 Cystic adenomatoid lung disease NOT_TRANSLATED -HP:0010963 Absence of stomach bubble on foetal sonography NOT_TRANSLATED -HP:0010963 Absent stomach bubble NOT_TRANSLATED -HP:0010963 Non-visualisation of the fetal stomach NOT_TRANSLATED -HP:0010965 Abnormal circulating phytanic acid level NOT_TRANSLATED -HP:0010966 Abnormality of fatty acid anion NOT_TRANSLATED -HP:0010967 Carnitine levels abnormal NOT_TRANSLATED -HP:0010972 Anaemia of inadequate production NOT_TRANSLATED -HP:0010972 Anemia, dyserythropoietic NOT_TRANSLATED -HP:0010972 Defective erythropoiesis NOT_TRANSLATED -HP:0010972 Dyserythropoietic anaemia NOT_TRANSLATED -HP:0010972 Dyserythropoietic anemia NOT_TRANSLATED -HP:0010972 Ineffective erythropoiesis NOT_TRANSLATED -HP:0010974 Abnormality of myeloid leukocytes NOT_TRANSLATED -HP:0010975 Abnormal number of B cells NOT_TRANSLATED -HP:0010975 Abnormal numbers of B cells NOT_TRANSLATED -HP:0010975 Abnormality of B cell count NOT_TRANSLATED -HP:0010975 Abnormality of B cell numbers NOT_TRANSLATED -HP:0010976 B cell deficiency NOT_TRANSLATED -HP:0010976 B cell lymphopenia NOT_TRANSLATED -HP:0010976 Decreased B cell count NOT_TRANSLATED -HP:0010976 Low B cell count NOT_TRANSLATED -HP:0010976 Reduction in B cell number NOT_TRANSLATED -HP:0010979 Abnormality of the level of lipoprotein cholesterol NOT_TRANSLATED -HP:0010981 Lack of fat in blood NOT_TRANSLATED -HP:0010991 Abnormality of the abdominal musculature NOT_TRANSLATED -HP:0010993 Abnormality of the cerebral medulla NOT_TRANSLATED -HP:0010993 Abnormality of the cerebral subcortex NOT_TRANSLATED -HP:0010994 Abnormality of the neostriatum NOT_TRANSLATED -HP:0010994 Abnormality of the striate nucleus NOT_TRANSLATED -HP:0010994 Abnormality of the striatum NOT_TRANSLATED -HP:0010997 Chromosomal breakage induced by ionising radiation NOT_TRANSLATED -HP:0010997 Increased cellular radiosensitivity NOT_TRANSLATED -HP:0010997 Radiation-induced chromosome instability NOT_TRANSLATED -HP:0010999 Absent optic tract NOT_TRANSLATED -HP:0011000 Absent/small optic tract NOT_TRANSLATED -HP:0011000 Absent/underdeveloped optic tract NOT_TRANSLATED -HP:0011001 Increased bone density NOT_TRANSLATED -HP:0011001 Osteosclerosis NOT_TRANSLATED -HP:0011001 Osteosclerosis of bones NOT_TRANSLATED -HP:0011002 Albers-Schoenberg disease NOT_TRANSLATED -HP:0011002 Albers-Schonberg disease NOT_TRANSLATED -HP:0011002 Albers-Schönberg disease NOT_TRANSLATED -HP:0011002 Harder, denser, fracture-prone bones NOT_TRANSLATED -HP:0011002 Marble bone disease NOT_TRANSLATED -HP:0011003 Severe myopia NOT_TRANSLATED -HP:0011003 Severe myopia (> -6.00 diopters) NOT_TRANSLATED -HP:0011003 Severe near sightedness NOT_TRANSLATED -HP:0011003 Severely close sighted NOT_TRANSLATED -HP:0011003 Severely near sighted NOT_TRANSLATED -HP:0011004 Abnormal systemic artery morphology NOT_TRANSLATED -HP:0011004 Abnormality of the systemic arterial tree NOT_TRANSLATED -HP:0011004 Arterial abnormalities NOT_TRANSLATED -HP:0011004 Systemic artery abnormality NOT_TRANSLATED -HP:0011006 Abnormality of cervical musculature NOT_TRANSLATED -HP:0011006 Abnormality of the musculature of the neck NOT_TRANSLATED -HP:0011006 Neck muscle issue NOT_TRANSLATED -HP:0011008 Speed of onset NOT_TRANSLATED -HP:0011009 Acute onset NOT_TRANSLATED -HP:0011015 Abnormality of blood glucose concentration NOT_TRANSLATED -HP:0011017 Abnormality of cell physiology NOT_TRANSLATED -HP:0011024 Abnormality of the GI tract NOT_TRANSLATED -HP:0011024 Digestive system disease NOT_TRANSLATED -HP:0011024 Gastrointestinal disease NOT_TRANSLATED -HP:0011025 Abnormality of cardiovascular system physiology NOT_TRANSLATED -HP:0011026 Absent/small vagina NOT_TRANSLATED -HP:0011026 Absent/underdeveloped vagina NOT_TRANSLATED -HP:0011027 Abnormality of the fallopian tube NOT_TRANSLATED -HP:0011028 Blood circulation disorder NOT_TRANSLATED -HP:0011029 Internal bleeding NOT_TRANSLATED -HP:0011029 Internal haemorrhage NOT_TRANSLATED -HP:0011030 Abnormality of transition element cation homeostasis NOT_TRANSLATED -HP:0011032 Fluid imbalance NOT_TRANSLATED -HP:0011034 Amyloid disease NOT_TRANSLATED -HP:0011035 Abnormality of renal cortex morphology NOT_TRANSLATED -HP:0011038 Abnormal renal resorption NOT_TRANSLATED -HP:0011038 Abnormality of renal resorption NOT_TRANSLATED -HP:0011039 Abnormal helices NOT_TRANSLATED -HP:0011039 Abnormality of the helix NOT_TRANSLATED -HP:0011039 Helix abnormal NOT_TRANSLATED -HP:0011040 Abnormality of the intrahepatic bile duct NOT_TRANSLATED -HP:0011041 Absent/small cervical spine NOT_TRANSLATED -HP:0011041 Absent/underdeveloped cervical spine NOT_TRANSLATED -HP:0011042 Abnormal blood K concentration NOT_TRANSLATED -HP:0011042 Abnormality of potassium homeostasis NOT_TRANSLATED -HP:0011043 Abnormality of circulating ACTH level NOT_TRANSLATED -HP:0011043 Abnormality of circulating adrenocorticotropic hormone level NOT_TRANSLATED -HP:0011043 Abnormality of circulating adrenocorticotropin level NOT_TRANSLATED -HP:0011043 Abnormality of circulating corticotropin level NOT_TRANSLATED -HP:0011044 Abnormal complement of permanent teeth NOT_TRANSLATED -HP:0011044 Abnormal number of adult teeth NOT_TRANSLATED -HP:0011044 Abnormal number of secondary dentition NOT_TRANSLATED -HP:0011044 Abnormal permanent tooth count NOT_TRANSLATED -HP:0011045 Absence of permanent maxillary central incisor NOT_TRANSLATED -HP:0011045 Absence of permanent upper central incisor NOT_TRANSLATED -HP:0011045 Absence of permanent upper front tooth NOT_TRANSLATED -HP:0011045 Agenesis of adult maxillary central incisor NOT_TRANSLATED -HP:0011045 Failure of development of permanent maxillary central incisor NOT_TRANSLATED -HP:0011045 Missing adult upper central incisor NOT_TRANSLATED -HP:0011045 Missing permanent maxillary central incisor NOT_TRANSLATED -HP:0011045 Missing permanent upper central incisor NOT_TRANSLATED -HP:0011045 Missing permanent upper front tooth NOT_TRANSLATED -HP:0011046 Absence of deciduous maxillary central incisor NOT_TRANSLATED -HP:0011046 Absence of primary maxillary central incisor NOT_TRANSLATED -HP:0011046 Absence of upper front baby tooth NOT_TRANSLATED -HP:0011046 Agenesis of deciduous maxillary central incisor NOT_TRANSLATED -HP:0011046 Failure of development of deciduous maxillary central incisor NOT_TRANSLATED -HP:0011046 Failure of development of primary maxillary central incisor NOT_TRANSLATED -HP:0011046 Missing deciduous maxillary central incisor NOT_TRANSLATED -HP:0011046 Missing primary maxillary central incisor NOT_TRANSLATED -HP:0011046 Missing upper front baby tooth NOT_TRANSLATED -HP:0011046 Missing upper front milk tooth NOT_TRANSLATED -HP:0011047 Absence of deciduous mandibular central incisor NOT_TRANSLATED -HP:0011047 Absence of primary mandibular central incisor NOT_TRANSLATED -HP:0011047 Agenesis of deciduous lower central incisor NOT_TRANSLATED -HP:0011047 Agenesis of primary lower central incisor NOT_TRANSLATED -HP:0011047 Failure of development of deciduous mandibular central incisor NOT_TRANSLATED -HP:0011047 Failure of development of primary mandibular central incisor NOT_TRANSLATED -HP:0011047 Missing deciduous mandibular central incisor NOT_TRANSLATED -HP:0011047 Missing lower central incisor milk tooth NOT_TRANSLATED -HP:0011047 Missing lower front baby tooth NOT_TRANSLATED -HP:0011047 Missing lower front milk tooth NOT_TRANSLATED -HP:0011047 Missing lower front primary tooth NOT_TRANSLATED -HP:0011047 Missing primary mandibular central incisor NOT_TRANSLATED -HP:0011048 Absence of permanent lower central incisor NOT_TRANSLATED -HP:0011048 Absence of permanent lower front tooth NOT_TRANSLATED -HP:0011048 Absence of permanent mandibular central incisor NOT_TRANSLATED -HP:0011048 Agenesis of adult mandibular central incisor NOT_TRANSLATED -HP:0011048 Failure of development of permanent mandibular central incisor NOT_TRANSLATED -HP:0011048 Missing adult lower central incisor NOT_TRANSLATED -HP:0011048 Missing permanent lower central incisor NOT_TRANSLATED -HP:0011048 Missing permanent lower front tooth NOT_TRANSLATED -HP:0011048 Missing permanent mandibular central incisor NOT_TRANSLATED -HP:0011049 Absence of deciduous maxillary lateral incisor NOT_TRANSLATED -HP:0011049 Absence of primary maxillary lateral incisor NOT_TRANSLATED -HP:0011049 Agenesis of deciduous maxillary lateral incisor NOT_TRANSLATED -HP:0011049 Failure of development of deciduous maxillary lateral incisor NOT_TRANSLATED -HP:0011049 Failure of development of primary maxillary lateral incisor NOT_TRANSLATED -HP:0011049 Missing deciduous maxillary lateral incisor NOT_TRANSLATED -HP:0011049 Missing primary maxillary lateral incisor NOT_TRANSLATED -HP:0011050 Absence of permanent maxillary lateral incisor NOT_TRANSLATED -HP:0011050 Agenesis of permanent upper lateral incisor NOT_TRANSLATED -HP:0011050 Failure of development of permanent maxillary lateral incisor NOT_TRANSLATED -HP:0011050 Failure of development of permanent upper lateral incisor NOT_TRANSLATED -HP:0011050 Missing permanent maxillary lateral incisor NOT_TRANSLATED -HP:0011050 Missing permanent upper lateral incisor NOT_TRANSLATED -HP:0011051 Absence of bicuspid NOT_TRANSLATED -HP:0011051 Absence of premolar NOT_TRANSLATED -HP:0011051 Agenesis of bicuspid NOT_TRANSLATED -HP:0011051 Failure of development of bicuspid NOT_TRANSLATED -HP:0011051 Failure of development of premolar NOT_TRANSLATED -HP:0011051 Missing bicuspid NOT_TRANSLATED -HP:0011051 Missing premolar NOT_TRANSLATED -HP:0011052 Absence of maxillary bicuspid NOT_TRANSLATED -HP:0011052 Absence of maxillary premolar NOT_TRANSLATED -HP:0011052 Absence of upper premolar NOT_TRANSLATED -HP:0011052 Agenesis of maxillary bicuspid NOT_TRANSLATED -HP:0011052 Failure of development of maxillary bicuspid NOT_TRANSLATED -HP:0011052 Failure of development of maxillary premolar NOT_TRANSLATED -HP:0011052 Missing maxillary premolar NOT_TRANSLATED -HP:0011052 Missing upper bicuspid NOT_TRANSLATED -HP:0011052 Missing upper premolar NOT_TRANSLATED -HP:0011053 Absence of lower premolar NOT_TRANSLATED -HP:0011053 Absence of mandibular premolar NOT_TRANSLATED -HP:0011053 Failure of development of mandibular premolar NOT_TRANSLATED -HP:0011053 Missing lower premolar NOT_TRANSLATED -HP:0011053 Missing mandibular premolar NOT_TRANSLATED -HP:0011054 Absence of molar NOT_TRANSLATED -HP:0011054 Absent molars NOT_TRANSLATED -HP:0011054 Failure of development of molar NOT_TRANSLATED -HP:0011054 Missing molar NOT_TRANSLATED -HP:0011055 Absence of adult molar NOT_TRANSLATED -HP:0011055 Absence of permanent molar NOT_TRANSLATED -HP:0011055 Agenesis of secondary molar NOT_TRANSLATED -HP:0011055 Failure of development of permanent molar NOT_TRANSLATED -HP:0011055 Failure of development of secondary molar NOT_TRANSLATED -HP:0011055 Missing adult molar NOT_TRANSLATED -HP:0011055 Missing permanent molar NOT_TRANSLATED -HP:0011056 Absence of first permanent molar NOT_TRANSLATED -HP:0011056 Absence of six year molar NOT_TRANSLATED -HP:0011056 Agenesis of six year molar NOT_TRANSLATED -HP:0011056 Failure of development of first permanent molar NOT_TRANSLATED -HP:0011056 Failure of development of six year molar NOT_TRANSLATED -HP:0011056 Missing first permanent molar NOT_TRANSLATED -HP:0011056 Missing six year molar NOT_TRANSLATED -HP:0011057 Absence of second permanent molar NOT_TRANSLATED -HP:0011057 Absence of twelve year molar NOT_TRANSLATED -HP:0011057 Agenesis of twelve year molar NOT_TRANSLATED -HP:0011057 Failure of development of second permanent molar NOT_TRANSLATED -HP:0011057 Failure of development of twelve year molar NOT_TRANSLATED -HP:0011057 Missing second permanent molar NOT_TRANSLATED -HP:0011057 Missing twelve year molar NOT_TRANSLATED -HP:0011058 Generalised gum disease NOT_TRANSLATED -HP:0011058 Generalised periodontal disease NOT_TRANSLATED -HP:0011058 Generalised periodontitis NOT_TRANSLATED -HP:0011058 Generalized gum disease NOT_TRANSLATED -HP:0011058 Generalized periodontal disease NOT_TRANSLATED -HP:0011058 Widespread gum disease NOT_TRANSLATED -HP:0011059 Limited area of gum disease NOT_TRANSLATED -HP:0011059 Localised gum disease NOT_TRANSLATED -HP:0011059 Localised periodontal disease NOT_TRANSLATED -HP:0011059 Localised periodontitis NOT_TRANSLATED -HP:0011059 Localized gum disease NOT_TRANSLATED -HP:0011059 Localized periodontal disease NOT_TRANSLATED -HP:0011060 Dentinogenesis imperfecta of baby teeth NOT_TRANSLATED -HP:0011061 Abnormality of tooth part NOT_TRANSLATED -HP:0011061 Abnormality of tooth structure NOT_TRANSLATED -HP:0011062 Abnormality of alignment of incisors NOT_TRANSLATED -HP:0011062 Abnormality of position of incisors NOT_TRANSLATED -HP:0011062 Crooked front teeth NOT_TRANSLATED -HP:0011062 Crooked incisors NOT_TRANSLATED -HP:0011062 Malposition of incisors NOT_TRANSLATED -HP:0011063 Abnormality of incisor morphology NOT_TRANSLATED -HP:0011063 Abnormality of shape of incisor NOT_TRANSLATED -HP:0011064 Abnormal number of front teeth NOT_TRANSLATED -HP:0011065 Cone shaped front tooth NOT_TRANSLATED -HP:0011065 Conoid incisor NOT_TRANSLATED -HP:0011065 Peg shaped front tooth NOT_TRANSLATED -HP:0011065 Peg shaped incisors NOT_TRANSLATED -HP:0011065 Peg-shaped incisors NOT_TRANSLATED -HP:0011065 Pointed front tooth NOT_TRANSLATED -HP:0011065 Pointed incisor NOT_TRANSLATED -HP:0011065 Shark tooth incisor NOT_TRANSLATED -HP:0011067 Extra tooth NOT_TRANSLATED -HP:0011067 Extra tooth in the midline NOT_TRANSLATED -HP:0011067 Median supernumary tooth NOT_TRANSLATED -HP:0011067 Mesiodentes NOT_TRANSLATED -HP:0011067 Midline supernumary tooth NOT_TRANSLATED -HP:0011068 Odontomas NOT_TRANSLATED -HP:0011069 Extra teeth NOT_TRANSLATED -HP:0011069 Hyperdontia NOT_TRANSLATED -HP:0011069 Increased number of teeth NOT_TRANSLATED -HP:0011069 Increased tooth count NOT_TRANSLATED -HP:0011069 More teeth than normal NOT_TRANSLATED -HP:0011069 Supernumary dentition NOT_TRANSLATED -HP:0011069 Supernumary teeth NOT_TRANSLATED -HP:0011069 Supernumerary teeth NOT_TRANSLATED -HP:0011069 Supplemental dentition NOT_TRANSLATED -HP:0011069 Supplemental teeth NOT_TRANSLATED -HP:0011069 Tooth, supernumerary NOT_TRANSLATED -HP:0011070 Abnormal shape of molar tooth NOT_TRANSLATED -HP:0011070 Abnormality of molar morphology NOT_TRANSLATED -HP:0011071 Abnormality of shape of adult molar NOT_TRANSLATED -HP:0011071 Abnormality of shape of permanent molar NOT_TRANSLATED -HP:0011072 Absence of tooth root NOT_TRANSLATED -HP:0011072 Agenesis of tooth root NOT_TRANSLATED -HP:0011072 Aplasia of tooth root NOT_TRANSLATED -HP:0011072 Missing tooth root NOT_TRANSLATED -HP:0011072 Teeth without roots NOT_TRANSLATED -HP:0011072 Tooth with dentin dysplasia type i NOT_TRANSLATED -HP:0011073 Abnormality of dental colour NOT_TRANSLATED -HP:0011073 Abnormality of dental shade NOT_TRANSLATED -HP:0011073 Abnormality of tooth color NOT_TRANSLATED -HP:0011073 Abnormality of tooth colour NOT_TRANSLATED -HP:0011073 Abnormality of tooth shade NOT_TRANSLATED -HP:0011074 Localised dysplasia of tooth enamel NOT_TRANSLATED -HP:0011074 Localised hypoplasia of dental enamel NOT_TRANSLATED -HP:0011074 Localised hypoplasia of tooth enamel NOT_TRANSLATED -HP:0011074 Localized dysplasia of tooth enamel NOT_TRANSLATED -HP:0011074 Localized hypoplasia of tooth enamel NOT_TRANSLATED -HP:0011075 Green colored teeth NOT_TRANSLATED -HP:0011075 Green coloured teeth NOT_TRANSLATED -HP:0011075 Green tooth shade NOT_TRANSLATED -HP:0011076 Abnormality of bicuspid NOT_TRANSLATED -HP:0011078 Abnormality of eye tooth NOT_TRANSLATED -HP:0011079 Buried tooth NOT_TRANSLATED -HP:0011079 Retained tooth NOT_TRANSLATED -HP:0011080 Abnormality of bicuspid morphology NOT_TRANSLATED -HP:0011080 Abnormality of premolar morphology NOT_TRANSLATED -HP:0011080 Abnormality of shape of bicuspid NOT_TRANSLATED -HP:0011080 Abnormality of shape of premolar NOT_TRANSLATED -HP:0011081 Hyperplasia of incisor NOT_TRANSLATED -HP:0011081 Hypertrophy of incisor NOT_TRANSLATED -HP:0011081 Increased size of incisor NOT_TRANSLATED -HP:0011081 Increased width of incisor NOT_TRANSLATED -HP:0011081 Large incisor NOT_TRANSLATED -HP:0011082 Cone shaped front baby tooth NOT_TRANSLATED -HP:0011082 Conical deciduous incisor NOT_TRANSLATED -HP:0011082 Conoid primary incisor NOT_TRANSLATED -HP:0011082 Peg shaped front baby tooth NOT_TRANSLATED -HP:0011082 Peg shaped primary incisor NOT_TRANSLATED -HP:0011082 Pointed front baby tooth NOT_TRANSLATED -HP:0011082 Pointed primary incisor NOT_TRANSLATED -HP:0011082 Primary front shark tooth NOT_TRANSLATED -HP:0011083 Cone shaped maxillary incisor NOT_TRANSLATED -HP:0011083 Cone shaped upper front tooth NOT_TRANSLATED -HP:0011083 Conoid maxillary incisor NOT_TRANSLATED -HP:0011083 Peg shaped upper front tooth NOT_TRANSLATED -HP:0011083 Pointed maxillary incisor NOT_TRANSLATED -HP:0011083 Pointed upper front tooth NOT_TRANSLATED -HP:0011083 Upper front shark tooth NOT_TRANSLATED -HP:0011084 Decreased enamel calcification NOT_TRANSLATED -HP:0011084 Poorly calcified tooth enamel NOT_TRANSLATED -HP:0011085 Immature tooth enamel NOT_TRANSLATED -HP:0011085 Soft teeth NOT_TRANSLATED -HP:0011085 Soft tooth enamel NOT_TRANSLATED -HP:0011086 Dentinogenesis imperfecta of adult and baby teeth NOT_TRANSLATED -HP:0011086 Dentinogenesis imperfecta of both sets of teeth NOT_TRANSLATED -HP:0011087 Dens evaginatus NOT_TRANSLATED -HP:0011087 Extra cusp on inside of front tooth NOT_TRANSLATED -HP:0011087 Talon cusps NOT_TRANSLATED -HP:0011088 Dens invaginatus NOT_TRANSLATED -HP:0011088 Tooth within a tooth NOT_TRANSLATED -HP:0011089 Conjoined teeth NOT_TRANSLATED -HP:0011089 Teeth, double NOT_TRANSLATED -HP:0011089 Twinning tooth NOT_TRANSLATED -HP:0011090 Fusion of teeth NOT_TRANSLATED -HP:0011090 Joined teeth NOT_TRANSLATED -HP:0011091 Gemination of tooth NOT_TRANSLATED -HP:0011091 Splitting of crown of tooth NOT_TRANSLATED -HP:0011092 Syphilitic permanent first molar NOT_TRANSLATED -HP:0011093 Enlarged premolar NOT_TRANSLATED -HP:0011093 Increased size of premolar NOT_TRANSLATED -HP:0011093 Molar shape of bicuspid NOT_TRANSLATED -HP:0011093 Molar shape of premolar NOT_TRANSLATED -HP:0011093 Molarization of bicuspid NOT_TRANSLATED -HP:0011094 Deep bite NOT_TRANSLATED -HP:0011094 Deep overbite NOT_TRANSLATED -HP:0011094 Increased overlap of upper and lower incisors NOT_TRANSLATED -HP:0011094 Overbite NOT_TRANSLATED -HP:0011094 Scissors bite NOT_TRANSLATED -HP:0011094 Supraocclusion NOT_TRANSLATED -HP:0011095 Abnormality of horizontal incisor relationship NOT_TRANSLATED -HP:0011095 Buck teeth NOT_TRANSLATED -HP:0011095 Protrusion of the maxillary incisors NOT_TRANSLATED -HP:0011095 Protrusion of upper teeth in front of lower teeth NOT_TRANSLATED -HP:0011095 Upper teeth sticking out forward NOT_TRANSLATED -HP:0011096 Demyelination NOT_TRANSLATED -HP:0011097 Epileptic spasms NOT_TRANSLATED -HP:0011097 Salaam convulsion NOT_TRANSLATED -HP:0011097 Salaam convulsions NOT_TRANSLATED -HP:0011097 Salaam seizure NOT_TRANSLATED -HP:0011097 Salaam seizures NOT_TRANSLATED -HP:0011097 West syndrome NOT_TRANSLATED -HP:0011098 Apraxia of speech NOT_TRANSLATED -HP:0011098 Speech dyspraxia NOT_TRANSLATED -HP:0011098 Verbal dyspraxia NOT_TRANSLATED -HP:0011099 Spastic hemiplegia NOT_TRANSLATED -HP:0011103 Abnormality of the left ventricular outflow tract NOT_TRANSLATED -HP:0011105 Fluid overload in blood NOT_TRANSLATED -HP:0011106 Depleted blood volume NOT_TRANSLATED -HP:0011107 Aphthous stomatitis NOT_TRANSLATED -HP:0011107 Buccal aphthous ulcers NOT_TRANSLATED -HP:0011107 Recurrent aphthous ulcers NOT_TRANSLATED -HP:0011107 Recurrent canker sores NOT_TRANSLATED -HP:0011107 Recurrent oral aphthae NOT_TRANSLATED -HP:0011108 Recurrent sinus disease NOT_TRANSLATED -HP:0011108 Sinusitis, recurrent NOT_TRANSLATED -HP:0011109 Chronic sinus disease NOT_TRANSLATED -HP:0011109 Sinusitis, chronic NOT_TRANSLATED -HP:0011110 Recurrent inflammation of tonsils NOT_TRANSLATED -HP:0011117 Abnormality of IL secretion NOT_TRANSLATED -HP:0011118 Abnormality of cachectin secretion NOT_TRANSLATED -HP:0011118 Abnormality of cachexin secretion NOT_TRANSLATED -HP:0011118 Abnormality of tumour necrosis factor secretion NOT_TRANSLATED -HP:0011119 Abnormal morphology of dorsum of nose NOT_TRANSLATED -HP:0011119 Abnormality of the dorsum of nose NOT_TRANSLATED -HP:0011119 Abnormality of the nasal dorsum NOT_TRANSLATED -HP:0011119 Abnormality of the nasal ridge NOT_TRANSLATED -HP:0011119 Anomaly of the nasal ridge NOT_TRANSLATED -HP:0011119 Crooked dorsum of nose NOT_TRANSLATED -HP:0011119 Crooked nasal dorsum NOT_TRANSLATED -HP:0011119 Crooked nasal ridge NOT_TRANSLATED -HP:0011119 Deformity of the dorsum of the nose NOT_TRANSLATED -HP:0011119 Deformity of the nasal dorsum NOT_TRANSLATED -HP:0011119 Deformity of the nasal ridge NOT_TRANSLATED -HP:0011119 Malformation of the dorsum of nose NOT_TRANSLATED -HP:0011119 Malformation of the nasal dorsum NOT_TRANSLATED -HP:0011119 Malformation of the nasal ridge NOT_TRANSLATED -HP:0011120 Boxer's nasal deformity NOT_TRANSLATED -HP:0011120 Boxer's nose deformity NOT_TRANSLATED -HP:0011120 Concave dorsum of nose NOT_TRANSLATED -HP:0011120 Concave nasal dorsum NOT_TRANSLATED -HP:0011120 Saddle nose NOT_TRANSLATED -HP:0011120 Saddle nose deformity NOT_TRANSLATED -HP:0011120 Saddle shaped nasal dorsum NOT_TRANSLATED -HP:0011120 Ski jump nose NOT_TRANSLATED -HP:0011121 Abnormal skin morphology NOT_TRANSLATED -HP:0011121 Abnormal skin structure NOT_TRANSLATED -HP:0011123 Abnormal tendency to infections of the skin NOT_TRANSLATED -HP:0011123 Dermatitis NOT_TRANSLATED -HP:0011123 Inflammatory skin disease NOT_TRANSLATED -HP:0011123 Skin inflammation NOT_TRANSLATED -HP:0011124 Abnormality of epidermal morphology NOT_TRANSLATED -HP:0011126 Floating kidney NOT_TRANSLATED -HP:0011126 Renal ptosis NOT_TRANSLATED -HP:0011127 Eczema around the mouth NOT_TRANSLATED -HP:0011129 Bilateral fetal pyelectasia NOT_TRANSLATED -HP:0011129 Bilateral foetal pyelectasia NOT_TRANSLATED -HP:0011129 Bilateral foetal pyelectasis NOT_TRANSLATED -HP:0011130 Abnormality of renal calyx morphology NOT_TRANSLATED -HP:0011131 Perianal rash NOT_TRANSLATED -HP:0011133 Increased sensitivity to ionising radiation NOT_TRANSLATED -HP:0011134 Mild fever NOT_TRANSLATED -HP:0011135 Absent/small sweat glands NOT_TRANSLATED -HP:0011135 Absent/underdeveloped sweat glands NOT_TRANSLATED -HP:0011136 Absent sweat glands NOT_TRANSLATED -HP:0011136 Lack of sweat glands NOT_TRANSLATED -HP:0011137 Non-itchy hives NOT_TRANSLATED -HP:0011138 Abnormal skin appendage NOT_TRANSLATED -HP:0011139 Gastric duplication cyst NOT_TRANSLATED -HP:0011140 GI duplication NOT_TRANSLATED -HP:0011141 Clouding of the lens of the eye with age NOT_TRANSLATED -HP:0011146 Behavioral arrest seizure with impairment of awareness irrespective of onset NOT_TRANSLATED -HP:0011146 Behavioural arrest seizure with impairment of awareness irrespective of onset NOT_TRANSLATED -HP:0011146 Unknown onset behavioral arrest seizure with impairment of awareness NOT_TRANSLATED -HP:0011146 Unknown onset behavioural arrest seizure with impairment of awareness NOT_TRANSLATED -HP:0011147 Typical absence NOT_TRANSLATED -HP:0011147 Typical absence seizures NOT_TRANSLATED -HP:0011149 Absence seizures with eyelid myoclonia NOT_TRANSLATED -HP:0011150 Myoclonic absence NOT_TRANSLATED -HP:0011150 Myoclonic absences NOT_TRANSLATED -HP:0011151 Obtundation status NOT_TRANSLATED -HP:0011152 Early onset petit mal seizures NOT_TRANSLATED -HP:0011153 Focal motor seizures NOT_TRANSLATED -HP:0011153 Localised motor seizure NOT_TRANSLATED -HP:0011153 Localised motor seizures NOT_TRANSLATED -HP:0011153 Localized motor seizure NOT_TRANSLATED -HP:0011153 Localized motor seizures NOT_TRANSLATED -HP:0011153 Partial motor seizure NOT_TRANSLATED -HP:0011153 Partial motor seizures NOT_TRANSLATED -HP:0011153 Segmental motor seizure NOT_TRANSLATED -HP:0011154 Focal autonomic seizures NOT_TRANSLATED -HP:0011157 Focal sensory seizures NOT_TRANSLATED -HP:0011157 Partial sensory seizure NOT_TRANSLATED -HP:0011157 Sensory aura NOT_TRANSLATED -HP:0011158 Auditory aura NOT_TRANSLATED -HP:0011158 Focal auditory seizure NOT_TRANSLATED -HP:0011158 Focal sensory auditory seizure NOT_TRANSLATED -HP:0011158 Partial auditory seizure NOT_TRANSLATED -HP:0011159 Abdominal aura NOT_TRANSLATED -HP:0011159 Epigastric aura NOT_TRANSLATED -HP:0011159 Epigastric auras NOT_TRANSLATED -HP:0011159 Localised seizure with epigastric sensation NOT_TRANSLATED -HP:0011159 Localized seizure with epigastric sensation NOT_TRANSLATED -HP:0011159 Partial seizure with epigastric sensation NOT_TRANSLATED -HP:0011159 Visceral aura NOT_TRANSLATED -HP:0011160 Focal gustatory seizure NOT_TRANSLATED -HP:0011160 Focal sensory gustatory seizure NOT_TRANSLATED -HP:0011160 Gustatory aura NOT_TRANSLATED -HP:0011160 Gustatory auras NOT_TRANSLATED -HP:0011160 Partial gustatory seizure NOT_TRANSLATED -HP:0011160 Taste hallucinations NOT_TRANSLATED -HP:0011161 Focal olfactory seizure NOT_TRANSLATED -HP:0011161 Olfactory aura NOT_TRANSLATED -HP:0011161 Olfactory auras NOT_TRANSLATED -HP:0011161 Partial olfactory seizure NOT_TRANSLATED -HP:0011163 Focal somatosensory seizure NOT_TRANSLATED -HP:0011163 Partial somatosensory seizure NOT_TRANSLATED -HP:0011163 Somatosensory aura NOT_TRANSLATED -HP:0011163 Somatosensory auras NOT_TRANSLATED -HP:0011165 Focal visual seizure NOT_TRANSLATED -HP:0011165 Partial visual seizure NOT_TRANSLATED -HP:0011165 Simple partial occipital seizures NOT_TRANSLATED -HP:0011165 Visual aura NOT_TRANSLATED -HP:0011165 Visual auras NOT_TRANSLATED -HP:0011166 Focal myoclonic seizures NOT_TRANSLATED -HP:0011166 Local myoclonic seizures NOT_TRANSLATED -HP:0011166 Localised myoclonic seizure NOT_TRANSLATED -HP:0011166 Localized myoclonic seizure NOT_TRANSLATED -HP:0011166 Partial myoclonic seizure NOT_TRANSLATED -HP:0011166 Partial myoclonic seizures NOT_TRANSLATED -HP:0011166 Segmental myoclonic seizure NOT_TRANSLATED -HP:0011166 Segmental myoclonic seizures NOT_TRANSLATED -HP:0011167 Focal tonic seizures NOT_TRANSLATED -HP:0011167 Local tonic seizures NOT_TRANSLATED -HP:0011167 Localised tonic seizure NOT_TRANSLATED -HP:0011167 Localized tonic seizure NOT_TRANSLATED -HP:0011167 Partial tonic seizure NOT_TRANSLATED -HP:0011167 Partial tonic seizures NOT_TRANSLATED -HP:0011167 Segmental tonic seizure NOT_TRANSLATED -HP:0011168 Eyelid myoclonias NOT_TRANSLATED -HP:0011169 Generalised clonic seizure NOT_TRANSLATED -HP:0011169 Generalised clonic seizures NOT_TRANSLATED -HP:0011169 Generalised onset clonic seizure NOT_TRANSLATED -HP:0011169 Generalised-onset clonic seizure NOT_TRANSLATED -HP:0011169 Generalized clonic seizures NOT_TRANSLATED -HP:0011169 Generalized onset clonic seizure NOT_TRANSLATED -HP:0011169 Generalized-onset clonic seizure NOT_TRANSLATED -HP:0011170 Generalised myoclonic-atonic seizure NOT_TRANSLATED -HP:0011170 Myoclonic atonic seizures NOT_TRANSLATED -HP:0011170 Myoclonic-astatic seizure NOT_TRANSLATED -HP:0011171 Simple febrile convulsion NOT_TRANSLATED -HP:0011171 Simple febrile seizures NOT_TRANSLATED -HP:0011171 Simple fever fit NOT_TRANSLATED -HP:0011172 Complex febrile convulsion NOT_TRANSLATED -HP:0011172 Complex febrile seizures NOT_TRANSLATED -HP:0011172 Complex fever fit NOT_TRANSLATED -HP:0011173 Focal behaviour arrest seizure NOT_TRANSLATED -HP:0011173 Focal hypokinetic seizure NOT_TRANSLATED -HP:0011173 Hypokinetic seizure NOT_TRANSLATED -HP:0011173 Hypokinetic seizures NOT_TRANSLATED -HP:0011173 Localised seizure with behavioural arrest NOT_TRANSLATED -HP:0011173 Localized seizure with behavioral arrest NOT_TRANSLATED -HP:0011173 Partial hypokinetic seizure NOT_TRANSLATED -HP:0011173 Partial seizure with behavior arrest NOT_TRANSLATED -HP:0011173 Partial seizure with behaviour arrest NOT_TRANSLATED -HP:0011174 Hyperkinetic seizures NOT_TRANSLATED -HP:0011174 Localised hyperkinetic seizure NOT_TRANSLATED -HP:0011174 Localized hyperkinetic seizure NOT_TRANSLATED -HP:0011174 Partial hyperkinetic seizure NOT_TRANSLATED -HP:0011174 Segmental hyperkinetic seizure NOT_TRANSLATED -HP:0011175 Versive seizure NOT_TRANSLATED -HP:0011175 Versive seizures NOT_TRANSLATED -HP:0011179 Beta wave electroencephalography NOT_TRANSLATED -HP:0011182 Epileptiform EEG discharges NOT_TRANSLATED -HP:0011184 EEG with hyperventilation-induced generalised epileptiform discharges NOT_TRANSLATED -HP:0011185 Focal EEG Abnormality NOT_TRANSLATED -HP:0011188 Focal EEG discharges with secondary generalisation NOT_TRANSLATED -HP:0011198 EEG with generalised epileptiform discharges NOT_TRANSLATED -HP:0011199 EEG with generalised sharp slow waves NOT_TRANSLATED -HP:0011200 EEG with generalised polymorphic epileptiform discharges NOT_TRANSLATED -HP:0011206 EEG with generalised slow activity grade 1 NOT_TRANSLATED -HP:0011207 EEG with generalised slow activity grade 2 NOT_TRANSLATED -HP:0011208 EEG with generalised slow activity grade 3 NOT_TRANSLATED -HP:0011209 EEG with generalised slow activity grade 4 NOT_TRANSLATED -HP:0011209 Flat line EEG NOT_TRANSLATED -HP:0011217 Abnormal shape of posterior cranium NOT_TRANSLATED -HP:0011217 Abnormal shape of posterior head NOT_TRANSLATED -HP:0011217 Abnormal shape of posterior skull NOT_TRANSLATED -HP:0011217 Abnormal shape of the back of the head NOT_TRANSLATED -HP:0011217 Abnormal shape of the back of the skull NOT_TRANSLATED -HP:0011218 Abnormal morphology of the frontal region NOT_TRANSLATED -HP:0011218 Abnormal shape of the forehead NOT_TRANSLATED -HP:0011218 Dysmorphic forehead NOT_TRANSLATED -HP:0011218 Dysmorphic frontal region NOT_TRANSLATED -HP:0011219 Decreased height of face NOT_TRANSLATED -HP:0011219 Decreased length of face NOT_TRANSLATED -HP:0011219 Decreased vertical dimension of face NOT_TRANSLATED -HP:0011219 Short facies NOT_TRANSLATED -HP:0011219 Vertical deficiency of face NOT_TRANSLATED -HP:0011219 Vertical Facial Deficiency NOT_TRANSLATED -HP:0011219 Vertical facial insufficiency NOT_TRANSLATED -HP:0011219 Vertical hypoplasia of face NOT_TRANSLATED -HP:0011219 Vertical insufficiency of face NOT_TRANSLATED -HP:0011219 Vertical shortening of face NOT_TRANSLATED -HP:0011220 Bulging forehead NOT_TRANSLATED -HP:0011220 Prominence of frontal region NOT_TRANSLATED -HP:0011220 Pronounced forehead NOT_TRANSLATED -HP:0011220 Protruding forehead NOT_TRANSLATED -HP:0011221 Frontal creases of face NOT_TRANSLATED -HP:0011221 Vertical forehead rhytids NOT_TRANSLATED -HP:0011221 Vertical forehead wrinkles NOT_TRANSLATED -HP:0011222 Concave glabella CANDIDATE -HP:0011222 Deficientië van glabella CANDIDATE -HP:0011222 Deficient gebied tussen de wenkbrauwen CANDIDATE -HP:0011222 Vlak gebied tussen de wenkbrauwen CANDIDATE -HP:0011222 Vlakke glabella CANDIDATE -HP:0011222 Hypoplasia van glabella CANDIDATE -HP:0011223 Depression of frontal cranial suture NOT_TRANSLATED -HP:0011223 Depression of metopic cranial suture NOT_TRANSLATED -HP:0011223 Frontal suture depression NOT_TRANSLATED -HP:0011224 Ablepharon of eyelid NOT_TRANSLATED -HP:0011224 Absent eyelids NOT_TRANSLATED -HP:0011224 Agenesis of eyelids NOT_TRANSLATED -HP:0011224 Aplasia of the eyelids NOT_TRANSLATED -HP:0011224 Missing eyelids NOT_TRANSLATED -HP:0011226 Failure of development of eyelid NOT_TRANSLATED -HP:0011226 Hypotrophic eyelid NOT_TRANSLATED -HP:0011227 Elevated C-reactive protein level NOT_TRANSLATED -HP:0011227 Elevated CRP NOT_TRANSLATED -HP:0011228 Flat eyebrow NOT_TRANSLATED -HP:0011228 Lack of eyebrow arch NOT_TRANSLATED -HP:0011228 Lack of eyebrow curvature NOT_TRANSLATED -HP:0011228 Straight eyebrow NOT_TRANSLATED -HP:0011228 Straight eyebrows NOT_TRANSLATED -HP:0011229 Broad eyebrows NOT_TRANSLATED -HP:0011229 Flared eyebrow NOT_TRANSLATED -HP:0011229 Flared eyebrows NOT_TRANSLATED -HP:0011229 Increased vertical height of eyebrow NOT_TRANSLATED -HP:0011229 Increased vertical thickness of eyebrow NOT_TRANSLATED -HP:0011229 Increased vertical width of eyebrow NOT_TRANSLATED -HP:0011230 Increased lateral length of eyebrow NOT_TRANSLATED -HP:0011230 Laterally elongated eyebrow NOT_TRANSLATED -HP:0011230 Laterally extended eyebrows NOT_TRANSLATED -HP:0011231 Thick eyelashes NOT_TRANSLATED -HP:0011232 Dennie-Morgan fold NOT_TRANSLATED -HP:0011232 Infraorbital fold NOT_TRANSLATED -HP:0011233 Conchal shelf NOT_TRANSLATED -HP:0011237 Antihelix, inferior crus, broad NOT_TRANSLATED -HP:0011238 Antihelix, inferior crus, prominent NOT_TRANSLATED -HP:0011238 Hyperplastic inferior crus of antihelix NOT_TRANSLATED -HP:0011238 Hypertrophic inferior crus of antihelix NOT_TRANSLATED -HP:0011239 Antihelix, inferior crus, underdeveloped NOT_TRANSLATED -HP:0011239 Hypoplastic inferior crus of antihelix NOT_TRANSLATED -HP:0011239 Hypotrophic inferior crus of antihelix NOT_TRANSLATED -HP:0011240 Hyperplastic antihelix stem NOT_TRANSLATED -HP:0011240 Hypertrophic antihelix stem NOT_TRANSLATED -HP:0011241 Antihelix, stem, serpiginous NOT_TRANSLATED -HP:0011242 Antihelix, stem, underdeveloped NOT_TRANSLATED -HP:0011243 Abnormality of anterior crus of antihelix NOT_TRANSLATED -HP:0011245 Abnormality of posterior crus of antihelix NOT_TRANSLATED -HP:0011246 Hypoplastic superior crus of antihelix NOT_TRANSLATED -HP:0011246 Hypotrophic superior crus of antihelix NOT_TRANSLATED -HP:0011247 Hyperplastic superior crus of antihelix NOT_TRANSLATED -HP:0011247 Hypertrophic superior crus of antihelix NOT_TRANSLATED -HP:0011250 Double antitragus NOT_TRANSLATED -HP:0011251 Hypoplastic antitragus NOT_TRANSLATED -HP:0011251 Hypotrophic antitragus NOT_TRANSLATED -HP:0011251 Small antitragus NOT_TRANSLATED -HP:0011252 Buried ear NOT_TRANSLATED -HP:0011252 Hidden ear NOT_TRANSLATED -HP:0011253 Type 1 cryptotia NOT_TRANSLATED -HP:0011254 Type 2 cryptotia NOT_TRANSLATED -HP:0011255 Helix, crus, absent NOT_TRANSLATED -HP:0011256 Helix, crus, connected to antihelix NOT_TRANSLATED -HP:0011257 Helix, crus, serpiginous NOT_TRANSLATED -HP:0011258 Helix, crus, tragal bridge NOT_TRANSLATED -HP:0011259 Helix, crus, expanded terminal portion NOT_TRANSLATED -HP:0011260 Helix, Darwin notch NOT_TRANSLATED -HP:0011261 Helix, Darwin tubercle NOT_TRANSLATED -HP:0011262 Helix, crimped NOT_TRANSLATED -HP:0011262 Indented helix NOT_TRANSLATED -HP:0011263 Lobe, forward facing NOT_TRANSLATED -HP:0011264 Helix, discontinuous ascending root NOT_TRANSLATED -HP:0011266 First-degree microtia NOT_TRANSLATED -HP:0011267 Abnormal shape/structure of ear NOT_TRANSLATED -HP:0011267 Third-degree microtia NOT_TRANSLATED -HP:0011269 Notched tragus NOT_TRANSLATED -HP:0011269 Tragus, bifid NOT_TRANSLATED -HP:0011270 Accesory tragus NOT_TRANSLATED -HP:0011270 Tragus, duplicated NOT_TRANSLATED -HP:0011271 Enlarged tragus NOT_TRANSLATED -HP:0011271 Hyperplastic tragus NOT_TRANSLATED -HP:0011271 Hypertrophic tragus NOT_TRANSLATED -HP:0011271 Large tragus NOT_TRANSLATED -HP:0011271 Tragus, prominent NOT_TRANSLATED -HP:0011272 Hypoplastic tragus NOT_TRANSLATED -HP:0011272 Hypotrophic tragus NOT_TRANSLATED -HP:0011272 Small tragus NOT_TRANSLATED -HP:0011273 Unequal size of red blood cells NOT_TRANSLATED -HP:0011276 Skin vascular malformation NOT_TRANSLATED -HP:0011276 Vascular abnormalities restricted to skin NOT_TRANSLATED -HP:0011279 Abnormality of urine HCO3 concentration NOT_TRANSLATED -HP:0011280 Abnormality of urine Ca concentration NOT_TRANSLATED -HP:0011280 Abnormality of urine Ca2+ concentration NOT_TRANSLATED -HP:0011282 Abnormal shape of hindbrain NOT_TRANSLATED -HP:0011282 Abnormality of hindbrain morphology NOT_TRANSLATED -HP:0011282 Abnormality of the hindbrain NOT_TRANSLATED -HP:0011283 Abnormality of the metencephalon NOT_TRANSLATED -HP:0011297 Abnormality of digit NOT_TRANSLATED -HP:0011297 Abnormality of fingers or toes NOT_TRANSLATED -HP:0011297 Digital anomalies NOT_TRANSLATED -HP:0011300 Broad fingertips NOT_TRANSLATED -HP:0011301 Aplasia of the foot NOT_TRANSLATED -HP:0011301 Apodia NOT_TRANSLATED -HP:0011304 Broad phalanges of the thumb NOT_TRANSLATED -HP:0011304 Broad thumbs NOT_TRANSLATED -HP:0011304 Wide/broad thumb NOT_TRANSLATED -HP:0011304 Wide/broad thumb phalanges NOT_TRANSLATED -HP:0011305 Hypophalangy of toes NOT_TRANSLATED -HP:0011308 Narrow toe NOT_TRANSLATED -HP:0011309 Tapering toes NOT_TRANSLATED -HP:0011310 Bridged palm line NOT_TRANSLATED -HP:0011310 Transitional palmar crease NOT_TRANSLATED -HP:0011314 Abnormal shape of long bone NOT_TRANSLATED -HP:0011314 Abnormality of long bone morphology NOT_TRANSLATED -HP:0011314 Abnormality of the tubular bones NOT_TRANSLATED -HP:0011315 Unilateral coronal craniosynostosis NOT_TRANSLATED -HP:0011315 Unilateral coronal suture craniosynostosis NOT_TRANSLATED -HP:0011315 Unilateral coronal suture synostosis NOT_TRANSLATED -HP:0011318 Bilateral coronal craniosynostosis NOT_TRANSLATED -HP:0011318 Bilateral coronal suture craniosynostosis NOT_TRANSLATED -HP:0011318 Bilateral coronal suture synostosis NOT_TRANSLATED -HP:0011319 Bilateral lambdoid craniosynostosis NOT_TRANSLATED -HP:0011319 Bilateral lambdoid suture synostosis NOT_TRANSLATED -HP:0011320 Unilateral lambdoid craniosynostosis NOT_TRANSLATED -HP:0011320 Unilateral lambdoid suture synostosis NOT_TRANSLATED -HP:0011323 Midline defect of chin NOT_TRANSLATED -HP:0011324 Multisutural craniosynostosis NOT_TRANSLATED -HP:0011325 Sysnostosis of all cranial sutures NOT_TRANSLATED -HP:0011326 Anterior flat head syndrome NOT_TRANSLATED -HP:0011326 Coronal synostosis NOT_TRANSLATED -HP:0011326 Deformational anterior plagiocephaly NOT_TRANSLATED -HP:0011326 Deformational frontal plagiocephaly NOT_TRANSLATED -HP:0011326 Frontal plagiocephaly NOT_TRANSLATED -HP:0011326 Positional anterior plagiocephaly NOT_TRANSLATED -HP:0011326 Positional frontal plagiocephaly NOT_TRANSLATED -HP:0011326 Unicoronal craniosynostosis NOT_TRANSLATED -HP:0011327 Deformational posterior plagiocephaly NOT_TRANSLATED -HP:0011327 Occipital plagiocephaly NOT_TRANSLATED -HP:0011328 Anomaly of the fontanelles NOT_TRANSLATED -HP:0011329 Abnormality of the bregma sutures NOT_TRANSLATED -HP:0011329 Abnormality of the calvarium sutures NOT_TRANSLATED -HP:0011329 Abnormality of the cranial sutures NOT_TRANSLATED -HP:0011329 Abnormality of the skull suture NOT_TRANSLATED -HP:0011330 Metopic craniosynostosis NOT_TRANSLATED -HP:0011330 Metopic suture craniosynostosis NOT_TRANSLATED -HP:0011331 Atrophy of half of face NOT_TRANSLATED -HP:0011331 Atrophy of one side of the face NOT_TRANSLATED -HP:0011331 Facial hemiatrophy NOT_TRANSLATED -HP:0011332 Decrease in size of half of face NOT_TRANSLATED -HP:0011332 Decrease in size of one side of the face NOT_TRANSLATED -HP:0011332 Decreased size of half of the face NOT_TRANSLATED -HP:0011332 Decreased size of one side of the face NOT_TRANSLATED -HP:0011332 Hemifacial microsomia NOT_TRANSLATED -HP:0011332 Shrinking of half of face NOT_TRANSLATED -HP:0011332 Shrinking of one side of the face NOT_TRANSLATED -HP:0011333 Hypoplasia of depressor angula oris muscle NOT_TRANSLATED -HP:0011333 Partial unilateral facial paresis NOT_TRANSLATED -HP:0011334 Distortion of facial shape NOT_TRANSLATED -HP:0011334 Facial shape compression NOT_TRANSLATED -HP:0011335 Hairy forehead NOT_TRANSLATED -HP:0011335 Hirsute forehead NOT_TRANSLATED -HP:0011336 Bitemporal aplasia cutis congenita NOT_TRANSLATED -HP:0011336 Congenital ectodermal dysplasia of the face NOT_TRANSLATED -HP:0011336 Congenital, bilateral, scarlike facial lesions NOT_TRANSLATED -HP:0011336 Focal facial dermal dysplasia NOT_TRANSLATED -HP:0011336 Temporal skin defect NOT_TRANSLATED -HP:0011337 Anomaly of mouth size NOT_TRANSLATED -HP:0011338 Anomaly of mouth shape NOT_TRANSLATED -HP:0011338 Unusual mouth shape NOT_TRANSLATED -HP:0011339 Abnormality of the red part of the upper lip NOT_TRANSLATED -HP:0011339 Anomaly of the upper lip vermillion NOT_TRANSLATED -HP:0011339 Deformity of the upper lip vermillion NOT_TRANSLATED -HP:0011339 Malformation of the upper lip vermillion NOT_TRANSLATED -HP:0011340 Forme fruste unilateral cleft lip NOT_TRANSLATED -HP:0011340 Incomplete cheiloschisis NOT_TRANSLATED -HP:0011340 Notched cleft of the upper lip NOT_TRANSLATED -HP:0011340 Partial cleft of the upper lip NOT_TRANSLATED -HP:0011341 Elongation of upper lip NOT_TRANSLATED -HP:0011341 Increased height of upper lip NOT_TRANSLATED -HP:0011341 Increased vertical length of upper lip NOT_TRANSLATED -HP:0011342 Global developmental delay, mild NOT_TRANSLATED -HP:0011342 Psychomotor retardation, mild NOT_TRANSLATED -HP:0011343 Global developmental delay, moderate NOT_TRANSLATED -HP:0011343 Psychomotor retardation, moderate NOT_TRANSLATED -HP:0011344 Global developmental delay, severe NOT_TRANSLATED -HP:0011344 Severe psychomotor retardation NOT_TRANSLATED -HP:0011348 Abnormal abducens nerve morphology NOT_TRANSLATED -HP:0011348 Abnormality of the sixth cranial nerve NOT_TRANSLATED -HP:0011353 Intimal fibrosis NOT_TRANSLATED -HP:0011354 Generalised abnormality of skin NOT_TRANSLATED -HP:0011355 Localised skin lesion NOT_TRANSLATED -HP:0011358 Generalised hypopigmentation of hair NOT_TRANSLATED -HP:0011361 Abnormal hair pattern since birth NOT_TRANSLATED -HP:0011362 Abnormality of hair density NOT_TRANSLATED -HP:0011363 Abnormality of pace of hair growth NOT_TRANSLATED -HP:0011363 Abnormality of speed of hair growth NOT_TRANSLATED -HP:0011368 Abnormality of keratinization NOT_TRANSLATED -HP:0011372 Absent inner ear NOT_TRANSLATED -HP:0011372 Aplasia of the labyrinth NOT_TRANSLATED -HP:0011372 Labyrinthine aplasia NOT_TRANSLATED -HP:0011372 Michel deformity NOT_TRANSLATED -HP:0011375 Absent cochlea NOT_TRANSLATED -HP:0011376 Vestibular abnormality NOT_TRANSLATED -HP:0011377 Absent vestibule NOT_TRANSLATED -HP:0011381 Absent semicircular canal NOT_TRANSLATED -HP:0011382 Hypoplasia of the semicircular canals NOT_TRANSLATED -HP:0011382 Small semicircular canal NOT_TRANSLATED -HP:0011383 Dilated semicircular canal NOT_TRANSLATED -HP:0011384 Abnormality of the internal acoustic meatus NOT_TRANSLATED -HP:0011387 Dilated vestibular aqueduct NOT_TRANSLATED -HP:0011387 Widened vestibular aqueduct NOT_TRANSLATED -HP:0011388 Dilated cochlear aqueduct NOT_TRANSLATED -HP:0011393 Absent cranial nerve viii NOT_TRANSLATED -HP:0011393 Absent the eighth cranial nerve NOT_TRANSLATED -HP:0011393 Absent vestribular nerve NOT_TRANSLATED -HP:0011393 Aplasia of cranial nerve VIII NOT_TRANSLATED -HP:0011393 Aplasia of the eighth cranial nerve NOT_TRANSLATED -HP:0011394 Hypoplasia of cranial nerve VIII NOT_TRANSLATED -HP:0011394 Hypoplasia of the eighth cranial nerve NOT_TRANSLATED -HP:0011394 Thin vestibular nerve NOT_TRANSLATED -HP:0011395 Absent/small cochlea NOT_TRANSLATED -HP:0011395 Absent/underdeveloped cochlea NOT_TRANSLATED -HP:0011399 Sharp shin sign NOT_TRANSLATED -HP:0011399 Tibialis anterior amyotrophy NOT_TRANSLATED -HP:0011399 Tibialis muscle degeneration NOT_TRANSLATED -HP:0011400 Abnormal formation of myelin sheaths NOT_TRANSLATED -HP:0011403 Abnormal umbilical cord blood vessels NOT_TRANSLATED -HP:0011404 Lethal short-trunk dwarfism NOT_TRANSLATED -HP:0011405 Short-limb dwarfism identifiable during childhood NOT_TRANSLATED -HP:0011406 Short-trunk dwarfism, identifiable in infancy NOT_TRANSLATED -HP:0011409 Abnormality of placental membranes NOT_TRANSLATED -HP:0011412 Vacuum extraction NOT_TRANSLATED -HP:0011412 Vacuum-assisted vaginal delivery NOT_TRANSLATED -HP:0011414 Hydrops of the placenta NOT_TRANSLATED -HP:0011415 Placental calcification NOT_TRANSLATED -HP:0011416 Placental thromboembolism NOT_TRANSLATED -HP:0011419 Abruptio placentae NOT_TRANSLATED -HP:0011422 Abnormal blood Cl concentration NOT_TRANSLATED -HP:0011422 Abnormal blood Cl- concentration NOT_TRANSLATED -HP:0011422 Abnormality of chloride homeostasis NOT_TRANSLATED -HP:0011424 Hyperzincemia NOT_TRANSLATED -HP:0011425 Foetal ultrasound soft marker NOT_TRANSLATED -HP:0011426 Foetal choroid plexus cysts NOT_TRANSLATED -HP:0011427 Enlarged foetal cisterna magna NOT_TRANSLATED -HP:0011428 Short fetal thigh bone length NOT_TRANSLATED -HP:0011428 Short foetal femur length NOT_TRANSLATED -HP:0011428 Short foetal thigh bone length NOT_TRANSLATED -HP:0011429 Short fetal long bone in upper arm length NOT_TRANSLATED -HP:0011429 Short foetal humerus length NOT_TRANSLATED -HP:0011429 Short foetal long bone in upper arm length NOT_TRANSLATED -HP:0011430 Hypoplasia of foetal nasal bone NOT_TRANSLATED -HP:0011430 Underdeveloped fetal nose bone NOT_TRANSLATED -HP:0011430 Underdeveloped foetal nose bone NOT_TRANSLATED -HP:0011431 Fetal little finger curvature NOT_TRANSLATED -HP:0011431 Fetal pinkie finger curvature NOT_TRANSLATED -HP:0011431 Fetal pinky finger curvature NOT_TRANSLATED -HP:0011431 Foetal fifth finger clinodactyly NOT_TRANSLATED -HP:0011431 Foetal little finger curvature NOT_TRANSLATED -HP:0011431 Foetal pinkie finger curvature NOT_TRANSLATED -HP:0011431 Foetal pinky finger curvature NOT_TRANSLATED -HP:0011432 High maternal serum alpha-fetoprotein NOT_TRANSLATED -HP:0011432 High maternal serum alpha-fetoprotein MoM NOT_TRANSLATED -HP:0011432 High MSAFP MoM NOT_TRANSLATED -HP:0011432 Increased maternal serum alpha-fetoprotein level NOT_TRANSLATED -HP:0011432 MSAFP MoM>2.5 NOT_TRANSLATED -HP:0011433 High maternal serum chorionic gonadotropin NOT_TRANSLATED -HP:0011433 High maternal serum hCG NOT_TRANSLATED -HP:0011434 Low maternal serum chorionic gonadotropin NOT_TRANSLATED -HP:0011434 Low maternal serum hCG NOT_TRANSLATED -HP:0011435 Low maternal serum PAPP-A NOT_TRANSLATED -HP:0011441 Abnormality of the medulla oblongata NOT_TRANSLATED -HP:0011441 Abnormality of the myencephalon NOT_TRANSLATED -HP:0011442 Abnormality of central motor function NOT_TRANSLATED -HP:0011443 Coordination issue NOT_TRANSLATED -HP:0011445 Dyskinetic cerebral palsy NOT_TRANSLATED -HP:0011447 Hyposegmentation of neutrophil nuclei in peripheral blood NOT_TRANSLATED -HP:0011447 Pelger-Huet anomaly NOT_TRANSLATED -HP:0011448 Abnormal rhythmic movements of ankle NOT_TRANSLATED -HP:0011449 Patellar clonus NOT_TRANSLATED -HP:0011450 Central nervous system infection NOT_TRANSLATED -HP:0011451 Congenital decreased head circumference NOT_TRANSLATED -HP:0011451 Congenital microcephaly NOT_TRANSLATED -HP:0011451 Congenital small head NOT_TRANSLATED -HP:0011451 Congenital small head circumference NOT_TRANSLATED -HP:0011451 Congenital small skull NOT_TRANSLATED -HP:0011451 Decreased head circumference present at birth NOT_TRANSLATED -HP:0011451 Head circumference small for gestational age NOT_TRANSLATED -HP:0011451 Microcephaly present at birth NOT_TRANSLATED -HP:0011451 Small cranium present at birth NOT_TRANSLATED -HP:0011451 Small head circumference present at birth NOT_TRANSLATED -HP:0011451 Small head present at birth NOT_TRANSLATED -HP:0011451 Small skull present at birth NOT_TRANSLATED -HP:0011457 Ciliary Madarosis NOT_TRANSLATED -HP:0011457 Eyelashes fell out NOT_TRANSLATED -HP:0011457 Milphosis NOT_TRANSLATED -HP:0011457 Missing eyelashes NOT_TRANSLATED -HP:0011461 Foetal onset NOT_TRANSLATED -HP:0011463 Symptoms begin in childhood NOT_TRANSLATED -HP:0011466 Absent/small gallbladder NOT_TRANSLATED -HP:0011466 Absent/underdeveloped gallbladder NOT_TRANSLATED -HP:0011467 Agenesis of the gallbladder NOT_TRANSLATED -HP:0011467 Aplasia of the gallbladder NOT_TRANSLATED -HP:0011468 Cramping of facial muscles NOT_TRANSLATED -HP:0011468 Facial spasms NOT_TRANSLATED -HP:0011468 Involuntary facial muscle spasms NOT_TRANSLATED -HP:0011468 Jerking of facial muscles NOT_TRANSLATED -HP:0011468 Mimic spasms NOT_TRANSLATED -HP:0011468 Muscle spasm of face NOT_TRANSLATED -HP:0011468 Myoclonus of facial muscles NOT_TRANSLATED -HP:0011468 Spasms of facial muscles NOT_TRANSLATED -HP:0011468 Twitching of facial muscles NOT_TRANSLATED -HP:0011471 PEG-fed in infancy NOT_TRANSLATED -HP:0011472 Abnormal shape of small intestinal villus NOT_TRANSLATED -HP:0011473 Atrophy of small intestinal villi NOT_TRANSLATED -HP:0011473 Biopsy shows villous atrophy NOT_TRANSLATED -HP:0011473 Duodenal villous atrophy NOT_TRANSLATED -HP:0011473 Small intestine biopsy shows villous atrophy NOT_TRANSLATED -HP:0011473 Variable degree of villous atrophy NOT_TRANSLATED -HP:0011473 Villous degeneration NOT_TRANSLATED -HP:0011478 Complete anophthalmia NOT_TRANSLATED -HP:0011478 Completely missing eyeball NOT_TRANSLATED -HP:0011478 Total anophthalmia NOT_TRANSLATED -HP:0011479 Abnormality of the lacrimal punctum NOT_TRANSLATED -HP:0011480 Abnormally small eyeball on one side NOT_TRANSLATED -HP:0011480 Unilateral nanophthalmos NOT_TRANSLATED -HP:0011481 Abnormality of the lacrimal canaliculus NOT_TRANSLATED -HP:0011481 Abnormality of the lacrimal duct NOT_TRANSLATED -HP:0011482 Abnormality of the lacrimal gland NOT_TRANSLATED -HP:0011483 Anterior synechiae NOT_TRANSLATED -HP:0011483 Cornea-iris adhesion NOT_TRANSLATED -HP:0011483 Iridocorneal adhesions NOT_TRANSLATED -HP:0011483 Iridocorneal synechia NOT_TRANSLATED -HP:0011484 Iridolenticular adhesions NOT_TRANSLATED -HP:0011484 Posterior synechiae NOT_TRANSLATED -HP:0011488 Abnormality of corneal endothelium NOT_TRANSLATED -HP:0011490 Abnormality of Descemet's membrane NOT_TRANSLATED -HP:0011492 Abnormality of corneal stroma NOT_TRANSLATED -HP:0011494 Generalised opacification of the cornea NOT_TRANSLATED -HP:0011495 Abnormality of corneal epithelium NOT_TRANSLATED -HP:0011496 Corneal neovascularisation NOT_TRANSLATED -HP:0011496 Corneal pannus NOT_TRANSLATED -HP:0011496 Corneal vascularization NOT_TRANSLATED -HP:0011496 Limbal neovascularization NOT_TRANSLATED -HP:0011496 New blood vessel formation in cornea NOT_TRANSLATED -HP:0011497 Neovascularization of the iris NOT_TRANSLATED -HP:0011497 New blood vessel formation in iris NOT_TRANSLATED -HP:0011499 Dilated pupil NOT_TRANSLATED -HP:0011500 Multiple pupils NOT_TRANSLATED -HP:0011503 Absent fovea NOT_TRANSLATED -HP:0011504 Chloroquine retinopathy NOT_TRANSLATED -HP:0011505 Cystoid macular oedema NOT_TRANSLATED -HP:0011506 Choroidal neovascular membrane NOT_TRANSLATED -HP:0011512 Hyperpigmented fundi NOT_TRANSLATED -HP:0011512 Hyperpigmented fundus NOT_TRANSLATED -HP:0011516 Rod monochromacy NOT_TRANSLATED -HP:0011516 Rod monochromatism NOT_TRANSLATED -HP:0011520 Deuteranomoly NOT_TRANSLATED -HP:0011520 Green-weak NOT_TRANSLATED -HP:0011521 Green-blind NOT_TRANSLATED -HP:0011522 Red-blind NOT_TRANSLATED -HP:0011525 Eye freckle NOT_TRANSLATED -HP:0011527 Bulging of eye lens NOT_TRANSLATED -HP:0011528 Single isolated CHRPE NOT_TRANSLATED -HP:0011528 Single isolated congenital hypertrophy of retinal pigment epithelium NOT_TRANSLATED -HP:0011529 Multiple bilateral CHRPE NOT_TRANSLATED -HP:0011530 Retinal holes NOT_TRANSLATED -HP:0011531 Hyalitis NOT_TRANSLATED -HP:0011531 Vitreitis NOT_TRANSLATED -HP:0011533 Snowflake retinal degeneration NOT_TRANSLATED -HP:0011535 Abnormal location of heart atrium NOT_TRANSLATED -HP:0011539 Atrial heterotaxy NOT_TRANSLATED -HP:0011539 Atrial situs ambiguus NOT_TRANSLATED -HP:0011540 L-transposition NOT_TRANSLATED -HP:0011540 Ventricular inversion NOT_TRANSLATED -HP:0011545 Abnormal connexion of the cardiac segments NOT_TRANSLATED -HP:0011545 Discordant connection of the cardiac segments NOT_TRANSLATED -HP:0011546 Abnormal atrioventricular connexion NOT_TRANSLATED -HP:0011547 Absent left sided atrioventricular connexion NOT_TRANSLATED -HP:0011548 Absent right sided atrioventricular connexion NOT_TRANSLATED -HP:0011549 Univentricular heart with absent left sided atrioventricular connexion NOT_TRANSLATED -HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connexion NOT_TRANSLATED -HP:0011552 Ambiguous atrioventricular connexion NOT_TRANSLATED -HP:0011553 Discordant atrioventricular connexion NOT_TRANSLATED -HP:0011554 Double inlet atrioventricular connexion NOT_TRANSLATED -HP:0011560 Mitral valve atresia NOT_TRANSLATED -HP:0011563 Abnormal ventriculo-arterial connection NOT_TRANSLATED -HP:0011563 Abnormal ventriculoarterial connexion NOT_TRANSLATED -HP:0011564 Hammock mitral valve NOT_TRANSLATED -HP:0011565 Single atrium NOT_TRANSLATED -HP:0011566 Cor triatriatum dextrum NOT_TRANSLATED -HP:0011572 Membranous supravalvular mitral stenosis NOT_TRANSLATED -HP:0011572 Supravalvular mitral ring NOT_TRANSLATED -HP:0011573 Tricuspid valve hypoplasia NOT_TRANSLATED -HP:0011573 Underdeveloped tricuspid valve NOT_TRANSLATED -HP:0011574 Unopened atrioventricular valve NOT_TRANSLATED -HP:0011575 Unopened tricuspid valve NOT_TRANSLATED -HP:0011576 Intermediate atrioventricular septal defect NOT_TRANSLATED -HP:0011579 Unbalanced atrioventricular septal defect NOT_TRANSLATED -HP:0011589 Bovine arch NOT_TRANSLATED -HP:0011589 Common brachiocephalic trunk NOT_TRANSLATED -HP:0011589 Ovine arch NOT_TRANSLATED -HP:0011593 Kommerell diverticulum NOT_TRANSLATED -HP:0011598 Right aortic arch with aberrant left subclavian artery NOT_TRANSLATED -HP:0011598 Right aortic arch with anomalous left subclavian artery NOT_TRANSLATED -HP:0011605 CCTGA NOT_TRANSLATED -HP:0011605 ccTGA NOT_TRANSLATED -HP:0011608 Persistent truncus arteriosus type II NOT_TRANSLATED -HP:0011608 Type 2 truncus arteriosus NOT_TRANSLATED -HP:0011609 Persistent truncus arteriosus type III NOT_TRANSLATED -HP:0011609 Type 3 truncus arteriosus NOT_TRANSLATED -HP:0011610 Persistent truncus arteriosus type IV NOT_TRANSLATED -HP:0011610 Type 4 truncus arteriosus NOT_TRANSLATED -HP:0011611 Aortic arch obstruction NOT_TRANSLATED -HP:0011611 Atretic transverse aortic arch NOT_TRANSLATED -HP:0011613 Interrupted aortic arch, type b NOT_TRANSLATED -HP:0011615 Abnormality of pulmonary situs NOT_TRANSLATED -HP:0011621 Left ventricular - right atrial communication NOT_TRANSLATED -HP:0011622 Atrioventricular canal type ventricular septal defect NOT_TRANSLATED -HP:0011622 Type 3 ventricular septal defect NOT_TRANSLATED -HP:0011623 Type 4 ventricular septal defect NOT_TRANSLATED -HP:0011623 Ventricular septal defect, muscular NOT_TRANSLATED -HP:0011625 Swiss cheese ventricular septal defect NOT_TRANSLATED -HP:0011626 Pulmonary venolobar syndrome NOT_TRANSLATED -HP:0011626 Scimitar syndrome NOT_TRANSLATED -HP:0011629 Absent pericardium NOT_TRANSLATED -HP:0011629 Congenital absence of the pericardium NOT_TRANSLATED -HP:0011633 Absent lining around of left side of heart NOT_TRANSLATED -HP:0011638 ALCAPA NOT_TRANSLATED -HP:0011638 Anomalous left coronary artery from the pulmonary artery NOT_TRANSLATED -HP:0011638 Bland-Garland-White syndrome NOT_TRANSLATED -HP:0011641 Coronary fistula NOT_TRANSLATED -HP:0011642 Abnormality of the coronary sinus NOT_TRANSLATED -HP:0011644 Diverticulum of the coronary sinus NOT_TRANSLATED -HP:0011645 Aneurysm of the aortic sinus NOT_TRANSLATED -HP:0011645 Aortic sinus aneurysm NOT_TRANSLATED -HP:0011645 Sinus of Valsalva aneurysm NOT_TRANSLATED -HP:0011647 Postductal aortic coarctation NOT_TRANSLATED -HP:0011650 Bilateral ductus botalli NOT_TRANSLATED -HP:0011651 DORV with doubly committed VSD and pulmonary stenosis NOT_TRANSLATED -HP:0011652 DORV with doubly committed VSD NOT_TRANSLATED -HP:0011652 Double outlet right ventricle, doubly committed ventricular septal defect NOT_TRANSLATED -HP:0011653 DORV with non-committed VSD and pulmonary stenosis NOT_TRANSLATED -HP:0011654 DORV with non-committed VSD without pulmonary stenosis NOT_TRANSLATED -HP:0011654 Double outlet right ventricle, noncommitted ventricular septal defect NOT_TRANSLATED -HP:0011655 DORV with subaortic VSD and pulmonary stenosis NOT_TRANSLATED -HP:0011656 DORV with subaortic VSD without pulmonary stenosis NOT_TRANSLATED -HP:0011657 DORV with subpulmonary VSD and pulmonary stenosis NOT_TRANSLATED -HP:0011658 DORV with subpulmonary VSD without pulmonary stenosis NOT_TRANSLATED -HP:0011658 Taussig-Bing anomaly NOT_TRANSLATED -HP:0011659 Tetralogy of Fallot with absent pulmonary valve syndrome NOT_TRANSLATED -HP:0011660 Hemitruncus NOT_TRANSLATED -HP:0011662 Tricuspid valve atresia NOT_TRANSLATED -HP:0011663 Cardiomyopathy, esp. right ventricular NOT_TRANSLATED -HP:0011663 Cardiomyopathy, right ventricular NOT_TRANSLATED -HP:0011664 Left ventricular non-compaction cardiomyopathy NOT_TRANSLATED -HP:0011665 Broken-heart syndrome NOT_TRANSLATED -HP:0011675 Abnormal heart rate NOT_TRANSLATED -HP:0011675 Arrhythmias NOT_TRANSLATED -HP:0011675 Cardiac arrhythmia NOT_TRANSLATED -HP:0011675 Cardiac arrhythmias NOT_TRANSLATED -HP:0011675 Cardiac rhythm disturbances NOT_TRANSLATED -HP:0011675 Heart rhythm disorders NOT_TRANSLATED -HP:0011675 Irregular heart beat NOT_TRANSLATED -HP:0011675 Irregular heartbeat NOT_TRANSLATED -HP:0011681 Conal ventricular septal defect NOT_TRANSLATED -HP:0011681 Doubly committed ventricular septal defect NOT_TRANSLATED -HP:0011681 Infundibular ventricular septal defect NOT_TRANSLATED -HP:0011681 Supracristal ventricular septal defect NOT_TRANSLATED -HP:0011681 Type 1 ventricular septal defect NOT_TRANSLATED -HP:0011682 Conoventricular ventricular septal defect NOT_TRANSLATED -HP:0011682 Membranous ventricular septal defect NOT_TRANSLATED -HP:0011682 Paramembranous ventricular septal defect NOT_TRANSLATED -HP:0011682 Perimembraneous ventricular septal defect NOT_TRANSLATED -HP:0011682 Type 2 ventricular septal defect NOT_TRANSLATED -HP:0011682 Ventricular septal defect, perimembranous NOT_TRANSLATED -HP:0011686 Anomalous coronary artery course NOT_TRANSLATED -HP:0011687 Atrioventricular nodal tachycardia NOT_TRANSLATED -HP:0011688 Atrioventricular re-entry tachycardia NOT_TRANSLATED -HP:0011688 Supraventricular tachycardia with an accessory connexion mediated pathway NOT_TRANSLATED -HP:0011689 Supraventricular tachycardia with a concealed accessory connexion NOT_TRANSLATED -HP:0011695 Cerebellar haemorrhage NOT_TRANSLATED -HP:0011701 Chaotic atrial tachycardia NOT_TRANSLATED -HP:0011701 Ectopic atrial tachycardia NOT_TRANSLATED -HP:0011703 Sinus tach NOT_TRANSLATED -HP:0011703 Sinus tachy NOT_TRANSLATED -HP:0011704 Sinoatrial node disease NOT_TRANSLATED -HP:0011707 Mobitz type 1 atrioventricular block NOT_TRANSLATED -HP:0011707 Wenckebach block NOT_TRANSLATED -HP:0011708 Mobitz type 2 atrioventricular block NOT_TRANSLATED -HP:0011710 Bundle-branch block NOT_TRANSLATED -HP:0011711 Left anterior hemiblock NOT_TRANSLATED -HP:0011712 Right bundle-branch block NOT_TRANSLATED -HP:0011717 AV nodal reentry tachycardia NOT_TRANSLATED -HP:0011718 Abnormality of lung veins NOT_TRANSLATED -HP:0011719 Supracardiac total anomalous pulmonary venous connexion NOT_TRANSLATED -HP:0011719 Total anomalous pulmonary venous connection, supracardiac NOT_TRANSLATED -HP:0011719 Type 1 total anomalous pulmonary venous connection NOT_TRANSLATED -HP:0011720 Cardiac total anomalous pulmonary venous connexion NOT_TRANSLATED -HP:0011720 Total anomalous pulmonary venous connection, intracardiac NOT_TRANSLATED -HP:0011720 Type 2 total anomalous pulmonary venous connection NOT_TRANSLATED -HP:0011721 Infracardiac total anomalous pulmonary venous connexion NOT_TRANSLATED -HP:0011721 Type 3 total anomalous pulmonary venous connection NOT_TRANSLATED -HP:0011722 Mixed total anomalous pulmonary venous connexion NOT_TRANSLATED -HP:0011722 Total anomalous pulmonary venous connection, mixed NOT_TRANSLATED -HP:0011722 Type 4 total anomalous pulmonary venous connection NOT_TRANSLATED -HP:0011726 Persistent foetal circulation NOT_TRANSLATED -HP:0011727 Fibularis muscle weakness NOT_TRANSLATED -HP:0011730 Abnormality of central sensory function NOT_TRANSLATED -HP:0011734 Secondary adrenal insufficiency NOT_TRANSLATED -HP:0011735 ACTH deficient adrenal insufficiency NOT_TRANSLATED -HP:0011737 CRH deficient adrenal insufficiency NOT_TRANSLATED -HP:0011737 Tertiary adrenal insufficiency NOT_TRANSLATED -HP:0011738 Corticotropin-releasing hormone receptor (CRHR) resistance NOT_TRANSLATED -HP:0011738 CRHR defect NOT_TRANSLATED -HP:0011739 Familial primary hyperaldosteronism type 1 NOT_TRANSLATED -HP:0011739 Glucocorticoid-remediable familial primary aldosteronism NOT_TRANSLATED -HP:0011740 Familial primary hyperaldosteronism type 2 NOT_TRANSLATED -HP:0011741 Hyperreninemic hyperaldosteronism NOT_TRANSLATED -HP:0011742 Abnormal adrenal gland position NOT_TRANSLATED -HP:0011744 ACTH-dependent hypercortisolemia NOT_TRANSLATED -HP:0011745 Non-secretory adrenal adenoma NOT_TRANSLATED -HP:0011746 Secretory adrenal adenoma NOT_TRANSLATED -HP:0011747 Pituitary disease NOT_TRANSLATED -HP:0011748 ACTH deficiency NOT_TRANSLATED -HP:0011748 Corticotropin deficiency NOT_TRANSLATED -HP:0011749 ACTH excess NOT_TRANSLATED -HP:0011750 Neoplasm of the adenohypophysis NOT_TRANSLATED -HP:0011750 Neoplasm of the pars anterior NOT_TRANSLATED -HP:0011751 Abnormality of the neurohypophysis NOT_TRANSLATED -HP:0011752 Neoplasm of the neurohypophysis NOT_TRANSLATED -HP:0011753 Neurohypophysis dysplasia NOT_TRANSLATED -HP:0011753 Posterior pituitary dysplasia NOT_TRANSLATED -HP:0011755 Ectopic neurohypophysis NOT_TRANSLATED -HP:0011756 Neurohypophysis agenesis NOT_TRANSLATED -HP:0011757 Neurohypophysis hypoplasia NOT_TRANSLATED -HP:0011759 Pituitary gonadotropinoma NOT_TRANSLATED -HP:0011760 Pituitary somatotropinoma NOT_TRANSLATED -HP:0011761 Clinically silent pituitary adenoma NOT_TRANSLATED -HP:0011761 Hormonally silent pituitary adenoma NOT_TRANSLATED -HP:0011761 Non-functional pituitary adenoma NOT_TRANSLATED -HP:0011761 Silent pituitary adenoma NOT_TRANSLATED -HP:0011762 Pituitary thyrotropinoma NOT_TRANSLATED -HP:0011767 Parathyroid dysfunction NOT_TRANSLATED -HP:0011767 Parathyroid issue NOT_TRANSLATED -HP:0011772 Abnormal shape of thyroid gland NOT_TRANSLATED -HP:0011772 Abnormality of thyroid morphology NOT_TRANSLATED -HP:0011773 Uninodular goitre NOT_TRANSLATED -HP:0011784 Thyrotoxicosis with diffuse goitre NOT_TRANSLATED -HP:0011785 Thyrotoxicosis with toxic multinodular goitre NOT_TRANSLATED -HP:0011788 Increased circulating free triiodothyronine NOT_TRANSLATED -HP:0011788 Increased serum free T3 NOT_TRANSLATED -HP:0011788 Increased serum free triiodothyronine NOT_TRANSLATED -HP:0011788 Increased serum fT3 NOT_TRANSLATED -HP:0011789 Thyroid-stimulating hormone receptor defect NOT_TRANSLATED -HP:0011789 TSHR defect NOT_TRANSLATED -HP:0011790 Activating TSHR defect NOT_TRANSLATED -HP:0011791 Inactivating TSHR defect NOT_TRANSLATED -HP:0011799 Anomaly of facial soft tissue NOT_TRANSLATED -HP:0011799 Deformity of facial soft tissue NOT_TRANSLATED -HP:0011799 Malformation of facial soft tissue NOT_TRANSLATED -HP:0011800 Decreased projection of midface NOT_TRANSLATED -HP:0011800 Decreased size of midface NOT_TRANSLATED -HP:0011800 Flat midface NOT_TRANSLATED -HP:0011800 Hypoplasia of midface NOT_TRANSLATED -HP:0011800 Hypotrophic midface NOT_TRANSLATED -HP:0011800 Midface deficiency NOT_TRANSLATED -HP:0011800 Midface hypoplasia NOT_TRANSLATED -HP:0011800 Midface, flat NOT_TRANSLATED -HP:0011800 Retrusive midface NOT_TRANSLATED -HP:0011800 Small midface NOT_TRANSLATED -HP:0011800 Underdevelopment of midface NOT_TRANSLATED -HP:0011801 Hyperplasia of parotid gland NOT_TRANSLATED -HP:0011801 Hypertrophy of parotid gland NOT_TRANSLATED -HP:0011801 Increased size of parotid gland NOT_TRANSLATED -HP:0011802 Lingual hamartoma NOT_TRANSLATED -HP:0011803 Bifid nasal bridge NOT_TRANSLATED -HP:0011803 Cleft nasal bridge NOT_TRANSLATED -HP:0011803 Cleft nose NOT_TRANSLATED -HP:0011803 Indentation or clefting of the nose NOT_TRANSLATED -HP:0011803 Indented bridge of nose NOT_TRANSLATED -HP:0011804 Abnormality of muscle physiology NOT_TRANSLATED -HP:0011804 Issue with muscle function NOT_TRANSLATED -HP:0011805 Abnormal muscle morphology NOT_TRANSLATED -HP:0011805 Abnormality of muscle morphology NOT_TRANSLATED -HP:0011805 Abnormally shaped muscle NOT_TRANSLATED -HP:0011805 Issue with muscle structure NOT_TRANSLATED -HP:0011807 Type 1 muscle fibre atrophy NOT_TRANSLATED -HP:0011808 Decreased knee jerk reflex NOT_TRANSLATED -HP:0011808 Decreased patellar reflexes NOT_TRANSLATED -HP:0011811 Impaired topognosis NOT_TRANSLATED -HP:0011811 Impaired touch localisation NOT_TRANSLATED -HP:0011818 Naso-frontal encephalocele NOT_TRANSLATED -HP:0011819 Partial thickness cleft soft palate NOT_TRANSLATED -HP:0011819 Submucous cleft velum NOT_TRANSLATED -HP:0011821 Abnormality of facial bones NOT_TRANSLATED -HP:0011821 Abnormality of facial skeleton NOT_TRANSLATED -HP:0011821 Anomaly of facial bones NOT_TRANSLATED -HP:0011821 Anomaly of facial skeleton NOT_TRANSLATED -HP:0011821 Deformity of facial skeleton NOT_TRANSLATED -HP:0011821 Deformity of the facial bones NOT_TRANSLATED -HP:0011821 Malformation of facial bones NOT_TRANSLATED -HP:0011821 Malformation of facial skeleton NOT_TRANSLATED -HP:0011822 Increased width of chin NOT_TRANSLATED -HP:0011822 Increased width of menton region NOT_TRANSLATED -HP:0011822 Wide chin NOT_TRANSLATED -HP:0011823 Chin with horizontal furrow NOT_TRANSLATED -HP:0011823 Chin with horizontal groove NOT_TRANSLATED -HP:0011823 Chin with horizontal sulcus NOT_TRANSLATED -HP:0011823 Horizontal chin skin cleft NOT_TRANSLATED -HP:0011823 Horizontal menton crease NOT_TRANSLATED -HP:0011824 Chin, H-Shaped Crease NOT_TRANSLATED -HP:0011824 Chin, H-shaped groove NOT_TRANSLATED -HP:0011824 H-shaped dimple of the chin NOT_TRANSLATED -HP:0011825 Philtrum, Tented NOT_TRANSLATED -HP:0011826 Philtrum with central raphe NOT_TRANSLATED -HP:0011826 Philtrum with midline ridge NOT_TRANSLATED -HP:0011826 Philtrum, midline raphe NOT_TRANSLATED -HP:0011827 Asymmetric philtral columns NOT_TRANSLATED -HP:0011827 Asymmetric philtral ridges NOT_TRANSLATED -HP:0011827 Malaligned philtral columns NOT_TRANSLATED -HP:0011827 Philtral Ridges, Malaligned NOT_TRANSLATED -HP:0011828 Central sinus of philtrum NOT_TRANSLATED -HP:0011828 Philtrum, Midline Sinus NOT_TRANSLATED -HP:0011829 Decreased breadth of philtrum NOT_TRANSLATED -HP:0011829 Decreased horizontal dimension of philtrum NOT_TRANSLATED -HP:0011829 Decreased transverse dimension of philtrum NOT_TRANSLATED -HP:0011829 Decreased width of philtrum NOT_TRANSLATED -HP:0011829 Philtrum, Narrow NOT_TRANSLATED -HP:0011829 Thin philtrum NOT_TRANSLATED -HP:0011830 Abnormality of lining of mouth NOT_TRANSLATED -HP:0011830 Abnormality of mucosa of mouth NOT_TRANSLATED -HP:0011830 Abnormality of oral mucosa NOT_TRANSLATED -HP:0011830 Abnormality of oral mucous membrane NOT_TRANSLATED -HP:0011831 Asymmetry of nasal tip NOT_TRANSLATED -HP:0011831 Asymmetry of tip of nose NOT_TRANSLATED -HP:0011831 Crooked nasal tip NOT_TRANSLATED -HP:0011831 Crooked tip of nose NOT_TRANSLATED -HP:0011831 Deviated tip of nose NOT_TRANSLATED -HP:0011831 Distortion of the nasal tip NOT_TRANSLATED -HP:0011831 Nasal tip, deviated NOT_TRANSLATED -HP:0011832 Narrow tip of nose NOT_TRANSLATED -HP:0011832 Nasal tip, narrow NOT_TRANSLATED -HP:0011832 Nasal tip, pinched NOT_TRANSLATED -HP:0011832 Pinched nasal tip NOT_TRANSLATED -HP:0011832 Pinched tip of nose NOT_TRANSLATED -HP:0011832 Thin nasal tip NOT_TRANSLATED -HP:0011832 Thin tip of nose NOT_TRANSLATED -HP:0011833 Drooping nasal tip NOT_TRANSLATED -HP:0011833 Hooked tip of nose NOT_TRANSLATED -HP:0011833 Low hanging nasal tip NOT_TRANSLATED -HP:0011833 Nasal tip, overhanging NOT_TRANSLATED -HP:0011835 Absent scaphoid bone NOT_TRANSLATED -HP:0011835 Missing scaphoid bone NOT_TRANSLATED -HP:0011839 Abnormal number of T cells NOT_TRANSLATED -HP:0011839 Abnormality of T cell number NOT_TRANSLATED -HP:0011842 Abnormality of skeletal morphology NOT_TRANSLATED -HP:0011842 Abnormally shaped skeletal NOT_TRANSLATED -HP:0011843 Abnormality of musculoskeletal physiology NOT_TRANSLATED -HP:0011845 Short 2nd long bone of foot NOT_TRANSLATED -HP:0011847 Giant cell tumour of bone NOT_TRANSLATED -HP:0011849 Abnormal bone maturation NOT_TRANSLATED -HP:0011854 Hematoperitoneum NOT_TRANSLATED -HP:0011855 Pharyngeal oedema NOT_TRANSLATED -HP:0011855 Swollen throat NOT_TRANSLATED -HP:0011855 Throat swelling NOT_TRANSLATED -HP:0011858 Low factor IX activity NOT_TRANSLATED -HP:0011860 Dappled metaphyseal sclerosis NOT_TRANSLATED -HP:0011861 Bilateral trilobed lungs NOT_TRANSLATED -HP:0011863 Abnormal maturation of breastbone NOT_TRANSLATED -HP:0011863 Sternal ossification center abnormalities NOT_TRANSLATED -HP:0011863 Sternal ossification centre abnormalities NOT_TRANSLATED -HP:0011867 Abnormality of the wing of the ilium NOT_TRANSLATED -HP:0011875 Abnormal shape of platelets NOT_TRANSLATED -HP:0011877 Large platelets NOT_TRANSLATED -HP:0011885 Bleeding from the eye NOT_TRANSLATED -HP:0011885 Haemorrhage of the eye NOT_TRANSLATED -HP:0011887 Choroid haemorrhage NOT_TRANSLATED -HP:0011887 Choroidal haemorrhage NOT_TRANSLATED -HP:0011887 Choroidal hemorrhage NOT_TRANSLATED -HP:0011889 Easy bleeding NOT_TRANSLATED -HP:0011891 Bleeding post-delivery NOT_TRANSLATED -HP:0011891 Post-partum haemorrhage NOT_TRANSLATED -HP:0011893 Abnormal white blood cell count NOT_TRANSLATED -HP:0011895 Anaemia due to reduced life span of red cells NOT_TRANSLATED -HP:0011896 Subconjunctival haemorrhage NOT_TRANSLATED -HP:0011897 Increased blood neutrophil counts NOT_TRANSLATED -HP:0011900 Low fibrinogen activity NOT_TRANSLATED -HP:0011900 Low fibrinogen level NOT_TRANSLATED -HP:0011901 Dysfibrinogenaemia NOT_TRANSLATED -HP:0011902 Abnormal haemoglobin NOT_TRANSLATED -HP:0011902 Abnormal Hb NOT_TRANSLATED -HP:0011903 Haemoglobin H NOT_TRANSLATED -HP:0011903 HbH haemoglobin NOT_TRANSLATED -HP:0011903 Hemoglobin H NOT_TRANSLATED -HP:0011904 Increased haemoglobin F NOT_TRANSLATED -HP:0011904 Increased hemoglobin F NOT_TRANSLATED -HP:0011904 Persistence of haemoglobin F NOT_TRANSLATED -HP:0011904 Persistence of HbF NOT_TRANSLATED -HP:0011905 Reduced haemoglobin A NOT_TRANSLATED -HP:0011905 Reduced HbA NOT_TRANSLATED -HP:0011909 Flattened head of long bone of hand NOT_TRANSLATED -HP:0011910 Shortening of all finger bones NOT_TRANSLATED -HP:0011911 Abnormality of metacarpophalangeal joint NOT_TRANSLATED -HP:0011911 Abnormality of the knuckle NOT_TRANSLATED -HP:0011917 Short fifth toe NOT_TRANSLATED -HP:0011917 Short little toe NOT_TRANSLATED -HP:0011917 Short pinkie toe NOT_TRANSLATED -HP:0011917 Short pinky toe NOT_TRANSLATED -HP:0011918 4th toe clinodactyly NOT_TRANSLATED -HP:0011918 Curvature of 4th toe NOT_TRANSLATED -HP:0011919 Pyothorax NOT_TRANSLATED -HP:0011923 Respiratory complex I deficiency NOT_TRANSLATED -HP:0011924 Respiratory complex III deficiency NOT_TRANSLATED -HP:0011925 Respiratory complex deficiency, ATPase deficiency NOT_TRANSLATED -HP:0011926 Proximal placement of big toe NOT_TRANSLATED -HP:0011926 Proximally placed halluces NOT_TRANSLATED -HP:0011927 Very short digits NOT_TRANSLATED -HP:0011928 Short innermost toe bone NOT_TRANSLATED -HP:0011930 Hyperelastic chest skin NOT_TRANSLATED -HP:0011930 Stretchable chest skin NOT_TRANSLATED -HP:0011931 Abnormality of the cerebellar peduncle NOT_TRANSLATED -HP:0011932 Abnormality of the superior cerebellar peduncle NOT_TRANSLATED -HP:0011933 Elongated superior cerebellar peduncles NOT_TRANSLATED -HP:0011933 Long cerebellar peduncle NOT_TRANSLATED -HP:0011933 Long cerebellar peduncles NOT_TRANSLATED -HP:0011934 Mesenteric artery aneurysm NOT_TRANSLATED -HP:0011937 Small fifth toenail NOT_TRANSLATED -HP:0011937 Underdeveloped fifth toenail NOT_TRANSLATED -HP:0011940 Anterior wedging of the 12th thoracic vertebra NOT_TRANSLATED -HP:0011940 Wedge-shaped 12th thoracic vertebra NOT_TRANSLATED -HP:0011945 BOOP NOT_TRANSLATED -HP:0011945 Bronchiolitis obliterans organising pneumonia NOT_TRANSLATED -HP:0011945 Cryptogenic organising pneumonia NOT_TRANSLATED -HP:0011945 Cryptogenic organizing pneumonia NOT_TRANSLATED -HP:0011946 Constrictive bronchiolitis NOT_TRANSLATED -HP:0011946 Obliterative bronchiolitis NOT_TRANSLATED -HP:0011947 Respiratory infection NOT_TRANSLATED -HP:0011947 Respiratory infections NOT_TRANSLATED -HP:0011948 Acute respiratory tract infection NOT_TRANSLATED -HP:0011954 Nodular transformation of liver NOT_TRANSLATED -HP:0011954 Noncirrhotic nodulation NOT_TRANSLATED -HP:0011954 Partial nodular transformation of liver NOT_TRANSLATED -HP:0011957 Abnormal pec muscles NOT_TRANSLATED -HP:0011958 Retinal tear NOT_TRANSLATED -HP:0011958 Torn retina NOT_TRANSLATED -HP:0011959 Small pec muscle on one side NOT_TRANSLATED -HP:0011959 Underdeveloped pec muscle on one side NOT_TRANSLATED -HP:0011961 Testicular azoospermia NOT_TRANSLATED -HP:0011967 Copper deficiency NOT_TRANSLATED -HP:0011967 Hypocupremia NOT_TRANSLATED -HP:0011967 Reduced serum copper NOT_TRANSLATED -HP:0011968 Feeding problems NOT_TRANSLATED -HP:0011968 Poor feeding NOT_TRANSLATED -HP:0011969 Elevated LH level NOT_TRANSLATED -HP:0011969 Elevated luteinizing hormone NOT_TRANSLATED -HP:0011969 Increased circulating luteinizing hormone level NOT_TRANSLATED -HP:0011971 Dermatographism NOT_TRANSLATED -HP:0011971 Dermographism NOT_TRANSLATED -HP:0011971 Skin writing NOT_TRANSLATED -HP:0011972 Decreased CSF glucose NOT_TRANSLATED -HP:0011972 Low glucose levels in cerebral spinal fluid NOT_TRANSLATED -HP:0011977 Increased urinary homovanillic acid NOT_TRANSLATED -HP:0011978 Increased urinary vanillylmandelic acid NOT_TRANSLATED -HP:0011984 Gallbladder atresia NOT_TRANSLATED -HP:0011985 Acholia NOT_TRANSLATED -HP:0011985 Clay colored stools NOT_TRANSLATED -HP:0011985 Clay coloured stools NOT_TRANSLATED -HP:0011985 Discolored, acholic stools NOT_TRANSLATED -HP:0011986 Ectopic bone formation NOT_TRANSLATED -HP:0011986 Heterotopic ossification NOT_TRANSLATED -HP:0011987 Calcification of muscle tissue NOT_TRANSLATED -HP:0011991 Abnormal neutrophil cell number NOT_TRANSLATED -HP:0011994 Abnormal interatrial septum morphology NOT_TRANSLATED -HP:0011994 Abnormality of the atrial septum NOT_TRANSLATED -HP:0011995 Atrial septal aneurysm NOT_TRANSLATED -HP:0011996 Elevated factor V activity NOT_TRANSLATED -HP:0011996 Plasma factor V elevated NOT_TRANSLATED -HP:0012000 EEG with generalised spikes NOT_TRANSLATED -HP:0012001 EEG with generalised polyspikes NOT_TRANSLATED -HP:0012002 Experiential aura NOT_TRANSLATED -HP:0012002 Experiential auras NOT_TRANSLATED -HP:0012003 Affective aura NOT_TRANSLATED -HP:0012003 Affective auras NOT_TRANSLATED -HP:0012003 Emotional aura NOT_TRANSLATED -HP:0012004 Mnemonic aura NOT_TRANSLATED -HP:0012004 Mnemonic auras NOT_TRANSLATED -HP:0012005 Deja vu NOT_TRANSLATED -HP:0012006 Jamais vu NOT_TRANSLATED -HP:0012007 Hallucinatory aura NOT_TRANSLATED -HP:0012007 Hallucinatory auras NOT_TRANSLATED -HP:0012008 Illusory aura NOT_TRANSLATED -HP:0012008 Illusory auras NOT_TRANSLATED -HP:0012019 Dislocated lens NOT_TRANSLATED -HP:0012019 Dislocated lenses NOT_TRANSLATED -HP:0012020 Right-sided aortic arch NOT_TRANSLATED -HP:0012023 Increased urinary galactose level NOT_TRANSLATED -HP:0012024 Galactosemia NOT_TRANSLATED -HP:0012026 High blood ornithine levels NOT_TRANSLATED -HP:0012027 Laryngeal oedema NOT_TRANSLATED -HP:0012028 Hepatic adenoma NOT_TRANSLATED -HP:0012028 Liver cell adenoma NOT_TRANSLATED -HP:0012029 Abnormality of urine hormone level NOT_TRANSLATED -HP:0012030 High urine cortisol level NOT_TRANSLATED -HP:0012031 Lipomatous tumour NOT_TRANSLATED -HP:0012032 Fatty lump NOT_TRANSLATED -HP:0012032 Noncancerous fatty lump NOT_TRANSLATED -HP:0012037 Wasting of pec muscles NOT_TRANSLATED -HP:0012038 Corneal endothelial guttata NOT_TRANSLATED -HP:0012040 Corneal stromal oedema NOT_TRANSLATED -HP:0012043 Nystagmus, continuous pendular NOT_TRANSLATED -HP:0012043 Nystagmus, pendular NOT_TRANSLATED -HP:0012047 Day blindness NOT_TRANSLATED -HP:0012048 Cranial dystonia NOT_TRANSLATED -HP:0012049 Spasmodic dysphonia NOT_TRANSLATED -HP:0012050 Extreme generalised oedema NOT_TRANSLATED -HP:0012050 Extreme generalized edema NOT_TRANSLATED -HP:0012051 Low blood sugar after a meal NOT_TRANSLATED -HP:0012051 Postprandial hypoglycemia NOT_TRANSLATED -HP:0012052 Low serum 1,25-dihydroxycholecalciferol NOT_TRANSLATED -HP:0012052 Low serum 1,25-dihydroxyvitamin D3 NOT_TRANSLATED -HP:0012053 Decreased 25-hydroxyvitamin D3 NOT_TRANSLATED -HP:0012053 Low serum 25-hydroxycholecalciferol NOT_TRANSLATED -HP:0012053 Low serum calcidiol NOT_TRANSLATED -HP:0012053 Low serum calcifediol NOT_TRANSLATED -HP:0012061 Increased urinary sialyloligosaccharides NOT_TRANSLATED -HP:0012062 Bone cysts NOT_TRANSLATED -HP:0012067 High urine glycopeptide levels NOT_TRANSLATED -HP:0012068 High urine aspartylglucosamine levels NOT_TRANSLATED -HP:0012069 Keratan sulphate excretion in urine NOT_TRANSLATED -HP:0012070 Chondroitin sulphate excretion in urine NOT_TRANSLATED -HP:0012071 Abnormal acetylcarnitine profile NOT_TRANSLATED -HP:0012071 Abnormal circulating esterified carnitine concentration NOT_TRANSLATED -HP:0012072 Acidic urine NOT_TRANSLATED -HP:0012074 Adie pupil NOT_TRANSLATED -HP:0012074 Adie's tonic pupil NOT_TRANSLATED -HP:0012076 BPD NOT_TRANSLATED -HP:0012084 Abnormality of skeletal muscle fibre size NOT_TRANSLATED -HP:0012085 High urine neutrophil count NOT_TRANSLATED -HP:0012085 Leukocyturia NOT_TRANSLATED -HP:0012086 Abnormal urinary colour NOT_TRANSLATED -HP:0012086 Abnormal urine color NOT_TRANSLATED -HP:0012086 Abnormal urine colour NOT_TRANSLATED -HP:0012088 Abnormal urinary odour NOT_TRANSLATED -HP:0012088 Abnormal urine smell NOT_TRANSLATED -HP:0012089 Inflammation of artery NOT_TRANSLATED -HP:0012090 Abnormality of pancreas morphology NOT_TRANSLATED -HP:0012090 Abnormally shaped pancreas NOT_TRANSLATED -HP:0012092 Abnormal exocrine pancreatic function NOT_TRANSLATED -HP:0012095 Multiple joint dislocations NOT_TRANSLATED -HP:0012098 Edema of dorsum of feet NOT_TRANSLATED -HP:0012098 Oedema of dorsum of feet NOT_TRANSLATED -HP:0012098 Oedema of the dorsum of feet NOT_TRANSLATED -HP:0012099 Catecholamine levels abnormal NOT_TRANSLATED -HP:0012100 Abnormal blood creatinine level NOT_TRANSLATED -HP:0012100 Abnormal circulating creatinine level NOT_TRANSLATED -HP:0012100 Creatinine levels abnormal NOT_TRANSLATED -HP:0012101 Low blood creatinine level NOT_TRANSLATED -HP:0012101 Reduced creatinine levels NOT_TRANSLATED -HP:0012103 Mitochondrial abnormalities NOT_TRANSLATED -HP:0012107 Thick fibula NOT_TRANSLATED -HP:0012107 Thick fibulae NOT_TRANSLATED -HP:0012107 Wide calf bone NOT_TRANSLATED -HP:0012107 Wide fibula NOT_TRANSLATED -HP:0012108 Primary open angle glaucoma NOT_TRANSLATED -HP:0012109 Primary angle closure glaucoma NOT_TRANSLATED -HP:0012110 Pontine hypoplasia NOT_TRANSLATED -HP:0012112 Abnormality of circulating corticosterone level NOT_TRANSLATED -HP:0012113 Abnormality of creatine metabolism NOT_TRANSLATED -HP:0012113 Creatine metabolism abnormal NOT_TRANSLATED -HP:0012115 Liver inflammation NOT_TRANSLATED -HP:0012116 Abnormal albumin level NOT_TRANSLATED -HP:0012117 High albumin NOT_TRANSLATED -HP:0012117 High blood albumin levels NOT_TRANSLATED -HP:0012117 Hyperalbuminaemia NOT_TRANSLATED -HP:0012118 Cancer of the larynx NOT_TRANSLATED -HP:0012118 Laryngeal cancer NOT_TRANSLATED -HP:0012120 High blood methylmalonic acid levels NOT_TRANSLATED -HP:0012120 Methymalonicaciduria NOT_TRANSLATED -HP:0012123 Choroiditis NOT_TRANSLATED -HP:0012125 Prostatic cancer NOT_TRANSLATED -HP:0012126 Gastric cancer NOT_TRANSLATED -HP:0012127 High urine uracil levels NOT_TRANSLATED -HP:0012130 Abnormality of cells of the erythroid lineage NOT_TRANSLATED -HP:0012132 Bone marrow biopsy shows erythroid hyperplasia NOT_TRANSLATED -HP:0012132 Bone marrow smear shows erythroid hyperplasia NOT_TRANSLATED -HP:0012133 Erythroblastopenia NOT_TRANSLATED -HP:0012133 Erythroid hypoplasia in the bone marrow NOT_TRANSLATED -HP:0012135 Abnormality of cells of the granulocytic lineage NOT_TRANSLATED -HP:0012142 Squamous cell carcinoma of the pancreas NOT_TRANSLATED -HP:0012143 Abnormality of cells of the megakaryocyte lineage NOT_TRANSLATED -HP:0012147 Decreased von Willebrand factor NOT_TRANSLATED -HP:0012152 Retinoschisis involving the fovea NOT_TRANSLATED -HP:0012153 Decreased circulating Tg levels NOT_TRANSLATED -HP:0012153 Decreased plasma Tg levels NOT_TRANSLATED -HP:0012153 Low blood triglyceride levels NOT_TRANSLATED -HP:0012155 Corneal hypaesthesia NOT_TRANSLATED -HP:0012155 Corneal hypesthesia NOT_TRANSLATED -HP:0012155 Decreased corneal sensitivity NOT_TRANSLATED -HP:0012155 Reduced corneal sensation NOT_TRANSLATED -HP:0012163 Carotid artery aneurysm NOT_TRANSLATED -HP:0012166 Compulsive skin picking NOT_TRANSLATED -HP:0012166 Dermatillomania NOT_TRANSLATED -HP:0012167 Trichotillomania NOT_TRANSLATED -HP:0012170 Onychophagia NOT_TRANSLATED -HP:0012170 Onychophagy NOT_TRANSLATED -HP:0012173 Postural tachycardia NOT_TRANSLATED -HP:0012174 Glioblastoma NOT_TRANSLATED -HP:0012175 Activated protein C resistance NOT_TRANSLATED -HP:0012176 Abnormal NK cells NOT_TRANSLATED -HP:0012176 Abnormality of natural killer cells NOT_TRANSLATED -HP:0012179 Abnormal craniofacial muscle tone NOT_TRANSLATED -HP:0012179 Abnormal craniofacial posture NOT_TRANSLATED -HP:0012179 Abnormal facial muscle tone NOT_TRANSLATED -HP:0012179 Distorted craniofacial posture NOT_TRANSLATED -HP:0012179 Facial Dystonia NOT_TRANSLATED -HP:0012180 Arterial cystic medial necrosis NOT_TRANSLATED -HP:0012184 High blood HDL level NOT_TRANSLATED -HP:0012184 Hyperalphalipoproteinemia NOT_TRANSLATED -HP:0012184 Increased circulating high-density lipoprotein levels NOT_TRANSLATED -HP:0012185 Carpal tunnel syndrome NOT_TRANSLATED -HP:0012189 Hodgkin disease NOT_TRANSLATED -HP:0012189 Hodgkin's lymphoma NOT_TRANSLATED -HP:0012190 T cell lymphoma NOT_TRANSLATED -HP:0012191 B cell lymphoma NOT_TRANSLATED -HP:0012195 Irregular respiratory rhythm NOT_TRANSLATED -HP:0012196 Cheyne-Stokes breathing NOT_TRANSLATED -HP:0012196 Periodic respiration NOT_TRANSLATED -HP:0012197 Pancreatic insulinoma NOT_TRANSLATED -HP:0012207 Asthenospermia NOT_TRANSLATED -HP:0012208 Nonmotile sperm NOT_TRANSLATED -HP:0012209 Juvenile myelomonocytic leukaemia NOT_TRANSLATED -HP:0012210 Abnormal kidney morphology NOT_TRANSLATED -HP:0012210 Abnormally shaped kidney NOT_TRANSLATED -HP:0012210 Kidney malformation NOT_TRANSLATED -HP:0012210 Kidney structure issue NOT_TRANSLATED -HP:0012210 Renal malformation NOT_TRANSLATED -HP:0012210 Structural anomalies of the renal tract NOT_TRANSLATED -HP:0012210 Structural kidney abnormalities NOT_TRANSLATED -HP:0012210 Structural renal anomalies NOT_TRANSLATED -HP:0012211 Abnormal kidney function NOT_TRANSLATED -HP:0012211 Abnormal renal function NOT_TRANSLATED -HP:0012211 Abnormality of renal physiology NOT_TRANSLATED -HP:0012211 Kidney function issue NOT_TRANSLATED -HP:0012211 Renal functional abnormality NOT_TRANSLATED -HP:0012212 Abnormal GFR NOT_TRANSLATED -HP:0012213 Decreased GFR NOT_TRANSLATED -HP:0012213 Impaired renal creatinine clearance NOT_TRANSLATED -HP:0012213 Reduced creatinine clearance NOT_TRANSLATED -HP:0012214 Increased GFR NOT_TRANSLATED -HP:0012216 Suprascapular nerve entrapment NOT_TRANSLATED -HP:0012221 Pretibial epidermolysis bullosa NOT_TRANSLATED -HP:0012223 Ruptured spleen NOT_TRANSLATED -HP:0012225 Decreased number of baby teeth NOT_TRANSLATED -HP:0012225 Decreased number of deciduous teeth NOT_TRANSLATED -HP:0012225 Decreased number of milk teeth NOT_TRANSLATED -HP:0012225 Decreased number of primary teeth NOT_TRANSLATED -HP:0012225 Failure of development of some deciduous teeth NOT_TRANSLATED -HP:0012225 Failure of development of some primary teeth NOT_TRANSLATED -HP:0012225 Fewer baby teeth than normal NOT_TRANSLATED -HP:0012225 Fewer deciduous teeth than normal NOT_TRANSLATED -HP:0012225 Fewer primary teeth than normal NOT_TRANSLATED -HP:0012225 Missing some baby teeth NOT_TRANSLATED -HP:0012225 Missing some milk teeth NOT_TRANSLATED -HP:0012225 Missing some primary teeth NOT_TRANSLATED -HP:0012225 Partial anodontia of deciduous teeth NOT_TRANSLATED -HP:0012225 Partial anodontia of primary teeth NOT_TRANSLATED -HP:0012229 Cerebrospinal fluid pleocytosis NOT_TRANSLATED -HP:0012229 Increased leukocyte count in CSF NOT_TRANSLATED -HP:0012231 Serous retinal detachment NOT_TRANSLATED -HP:0012233 IM hematoma NOT_TRANSLATED -HP:0012233 Intramuscular haematoma NOT_TRANSLATED -HP:0012233 Intramuscular haemorrhage NOT_TRANSLATED -HP:0012233 Intramuscular hematomas NOT_TRANSLATED -HP:0012233 Intramuscular hemorrhage NOT_TRANSLATED -HP:0012236 Elevated sweat Cl NOT_TRANSLATED -HP:0012236 Elevated sweat Cl- NOT_TRANSLATED -HP:0012237 High urine urocanic acid levels NOT_TRANSLATED -HP:0045005 Abnormality of neural tube closure NOT_TRANSLATED -HP:0012238 Hyperchylomicronemia NOT_TRANSLATED -HP:0012238 Increased chylomicrons NOT_TRANSLATED -HP:0012238 Increased circulating chylomicron levels NOT_TRANSLATED -HP:0045006 Absent lymphatic vessels NOT_TRANSLATED -HP:0045007 Abnormality of the substantia nigra NOT_TRANSLATED -HP:0012240 Increased muscle lipid droplets NOT_TRANSLATED -HP:0012242 Rectus superior atrophy NOT_TRANSLATED -HP:0012243 Abnormal genital system morphology NOT_TRANSLATED -HP:0045011 Decreased urine HCO3 concentration NOT_TRANSLATED -HP:0012246 Oculomotor neuropathy NOT_TRANSLATED -HP:0012248 Electrocardiographic long PR interval NOT_TRANSLATED -HP:0012248 Lengthened PR interval on EKG NOT_TRANSLATED -HP:0045018 Partial double eyebrow NOT_TRANSLATED -HP:0012254 Ewing's sarcoma NOT_TRANSLATED -HP:0045025 Decreased size of palpebral fissure NOT_TRANSLATED -HP:0045025 Narrow eyelid opening NOT_TRANSLATED -HP:0045025 Narrow palpebral fissures NOT_TRANSLATED -HP:0045025 Small opening between the eyelids NOT_TRANSLATED -HP:0045025 Small palpebral fissures NOT_TRANSLATED -HP:0012258 Abnormal axonemal organisation of respiratory motile cilia NOT_TRANSLATED -HP:0045026 Abnormality of the mediastinum NOT_TRANSLATED -HP:0045028 Lissencephaly type III NOT_TRANSLATED -HP:0045028 Type 3 lissencephaly NOT_TRANSLATED -HP:0045028 Type III lissencephaly NOT_TRANSLATED -HP:0012265 Lack of coordinated beating of respiratory cilia NOT_TRANSLATED -HP:0045038 Primary gastric lymphoma NOT_TRANSLATED -HP:0012272 EKG J waves NOT_TRANSLATED -HP:0012272 Osborne waves NOT_TRANSLATED -HP:0045042 Decreased serum complement C4 level NOT_TRANSLATED -HP:0045043 C4a deficiency NOT_TRANSLATED -HP:0045043 Complement component 4A deficiency NOT_TRANSLATED -HP:0012276 Trigger finger NOT_TRANSLATED -HP:0045044 C4b deficiency NOT_TRANSLATED -HP:0045044 Complement component 4B deficiency NOT_TRANSLATED -HP:0012277 Low blood glycine levels NOT_TRANSLATED -HP:0045045 Elevated plasma acylcarnitine levels NOT_TRANSLATED -HP:0045046 Acid-labile subunit deficiency NOT_TRANSLATED -HP:0045046 Decreased levels of acid labile subunit NOT_TRANSLATED -HP:0045046 Reduced insulin like growth factor binding protein acid labile subunit level NOT_TRANSLATED -HP:0012279 Low blood serine levels NOT_TRANSLATED -HP:0045047 HbS haemoglobin NOT_TRANSLATED -HP:0045048 Increased haemoglobin A2 NOT_TRANSLATED -HP:0045048 Increased HbA2 haemoglobin NOT_TRANSLATED -HP:0045048 Increased hemoglobin A2 NOT_TRANSLATED -HP:0012281 Chyloperitoneum NOT_TRANSLATED -HP:0045049 Abnormal diffusing capacity NOT_TRANSLATED -HP:0045049 Abnormal TLCO NOT_TRANSLATED -HP:0045049 Abnormal transfer factor of the lung for carbon monoxide NOT_TRANSLATED -HP:0045050 Increased diffusing capacity NOT_TRANSLATED -HP:0012283 Small end part of outermost thighbone NOT_TRANSLATED -HP:0045051 Decreased diffusing capacity NOT_TRANSLATED -HP:0012284 Small end part of innermost shankbone NOT_TRANSLATED -HP:0012284 Small end part of innermost shinbone NOT_TRANSLATED -HP:0012286 Abnormal shape of hypothalamus NOT_TRANSLATED -HP:0012286 Abnormality of hypothalamus morphology NOT_TRANSLATED -HP:0012286 Abnormality of the hypothalamus NOT_TRANSLATED -HP:0045055 Tiger-tail banding NOT_TRANSLATED -HP:0012288 Head and neck cancer NOT_TRANSLATED -HP:0012288 Head and neck tumor NOT_TRANSLATED -HP:0012288 Head and neck tumour NOT_TRANSLATED -HP:0012289 Face tumor NOT_TRANSLATED -HP:0012289 Face tumour NOT_TRANSLATED -HP:0012292 Fusion of the gingiva NOT_TRANSLATED -HP:0012292 Gingival synechia NOT_TRANSLATED -HP:0012292 Partial fusion of the gums NOT_TRANSLATED -HP:0012292 Synechia of the gums NOT_TRANSLATED -HP:0012292 Upper and lower gums fused together NOT_TRANSLATED -HP:0012294 Abnormality of the occipital bone NOT_TRANSLATED -HP:0012295 Slender middle bone of finger NOT_TRANSLATED -HP:0045063 Increased prothrombin induced by vitamin K absence-II NOT_TRANSLATED -HP:0012296 Slender outermost bone of finger NOT_TRANSLATED -HP:0012297 Slender innermost bone of finger NOT_TRANSLATED -HP:0012298 Long middle bone of finger NOT_TRANSLATED -HP:0012299 Long outermost bone of finger NOT_TRANSLATED -HP:0012301 Abnormal isoelectric focusing of serum transferrin, type 2 pattern NOT_TRANSLATED -HP:0012301 Abnormal isoelectric focusing of serum transferrin, type II pattern NOT_TRANSLATED -HP:0012301 Isoelectric focusing of serum transferrin consistent with CDG type II NOT_TRANSLATED -HP:0012301 Type 2 transferrin isoform profile NOT_TRANSLATED -HP:0012302 Herpes encephalitis NOT_TRANSLATED -HP:0012303 Abnormality of the aortic arch NOT_TRANSLATED -HP:0012304 Aortic arch hypoplasia NOT_TRANSLATED -HP:0012304 Underdeveloped aortic arch NOT_TRANSLATED -HP:0012306 Abnormal maturation of rib bones NOT_TRANSLATED -HP:0045074 Thin eyebrows NOT_TRANSLATED -HP:0045075 Hypotrichosis of eyebrow NOT_TRANSLATED -HP:0045075 Sparse eyebrows NOT_TRANSLATED -HP:0012308 Decreased serum C9 NOT_TRANSLATED -HP:0012310 Abnormal monocyte number NOT_TRANSLATED -HP:0012311 High blood monocyte number NOT_TRANSLATED -HP:0045079 Irregular distal femoral metaphyses NOT_TRANSLATED -HP:0012312 Low blood monocyte number NOT_TRANSLATED -HP:0045080 Decreased proportion of CD3+ T cells NOT_TRANSLATED -HP:0045081 Abnormal BMI NOT_TRANSLATED -HP:0045081 Abnormal body mass index NOT_TRANSLATED -HP:0045082 Decreased BMI NOT_TRANSLATED -HP:0045084 Myoclonus of limbs NOT_TRANSLATED -HP:0012317 Sacroiliitis NOT_TRANSLATED -HP:0045085 Atrophied masseter muscle NOT_TRANSLATED -HP:0045085 Masseter muscle atrophy NOT_TRANSLATED -HP:0045086 Knee joint over-flexibility NOT_TRANSLATED -HP:0012322 Perifollicular inflammation NOT_TRANSLATED -HP:0012324 Myeloid leukaemia NOT_TRANSLATED -HP:0012325 Chronic myelomonocytic leukaemia NOT_TRANSLATED -HP:0012326 Abnormal coeliac artery morphology NOT_TRANSLATED -HP:0012326 Abnormality of the celiac artery NOT_TRANSLATED -HP:0012326 Abnormality of the coeliac artery NOT_TRANSLATED -HP:0012327 Celiac axis syndrome NOT_TRANSLATED -HP:0012327 Coeliac artery compression NOT_TRANSLATED -HP:0012327 Coeliac axis syndrome NOT_TRANSLATED -HP:0012327 Dunbar syndrome NOT_TRANSLATED -HP:0012327 Median arcuate ligament syndrome NOT_TRANSLATED -HP:0012329 Angioblastoma NOT_TRANSLATED -HP:0012329 Angioblastoma of Nakagawa NOT_TRANSLATED -HP:0012329 Hypertrophic hemangioma NOT_TRANSLATED -HP:0012329 Progressive capillary hemangioma NOT_TRANSLATED -HP:0012329 Tufted hemangioma NOT_TRANSLATED -HP:0012332 Autonomic dysfunction NOT_TRANSLATED -HP:0012332 Autonomic dysregulation NOT_TRANSLATED -HP:0012332 Dysautonomia NOT_TRANSLATED -HP:0012333 Sudomotor sympathetic dysfunction NOT_TRANSLATED -HP:0012343 Decreased plasma ferritin NOT_TRANSLATED -HP:0012343 Decreased serum ferritin NOT_TRANSLATED -HP:0012343 Low ferritin level NOT_TRANSLATED -HP:0012343 Reduced serum ferritin NOT_TRANSLATED -HP:0012364 Decreased urinary K NOT_TRANSLATED -HP:0012364 Hypokaliuria NOT_TRANSLATED -HP:0012364 Hypokaluria NOT_TRANSLATED -HP:0012364 Low urine potassium levels NOT_TRANSLATED -HP:0012365 Low urine phosphate levels NOT_TRANSLATED -HP:0012368 Flat facial profile NOT_TRANSLATED -HP:0012368 Flat facial shape NOT_TRANSLATED -HP:0012368 Flat facies NOT_TRANSLATED -HP:0012370 Cheekbone excess NOT_TRANSLATED -HP:0012370 Cheekbone prominence NOT_TRANSLATED -HP:0012370 Hyperplasia of cheekbone NOT_TRANSLATED -HP:0012370 Hyperplasia of zygomatic bone NOT_TRANSLATED -HP:0012370 Malar hypertrophy NOT_TRANSLATED -HP:0012370 Prominence of cheekbone NOT_TRANSLATED -HP:0012370 Pronounced cheekbone NOT_TRANSLATED -HP:0012370 Zygomatic bone excess NOT_TRANSLATED -HP:0012370 Zygomatic hypertrophy NOT_TRANSLATED -HP:0012371 Big midface NOT_TRANSLATED -HP:0012371 Hypertrophy of midface NOT_TRANSLATED -HP:0012371 Large midface NOT_TRANSLATED -HP:0012371 Midface hyperplasia NOT_TRANSLATED -HP:0012371 Midfacial excess NOT_TRANSLATED -HP:0012371 Midfacial prominence NOT_TRANSLATED -HP:0012371 Overgrowth of the midface NOT_TRANSLATED -HP:0012372 Abnormal eye structure NOT_TRANSLATED -HP:0012372 Abnormality of the globe NOT_TRANSLATED -HP:0012372 Abnormally shaped eye NOT_TRANSLATED -HP:0012376 Small lens NOT_TRANSLATED -HP:0012377 Hemianopsia NOT_TRANSLATED -HP:0012378 Tired NOT_TRANSLATED -HP:0012378 Tiredness NOT_TRANSLATED -HP:0012384 Nasal inflammation NOT_TRANSLATED -HP:0012385 Permanent flexion of the finger or toe NOT_TRANSLATED -HP:0012386 Absent big toe NOT_TRANSLATED -HP:0012386 Agenesis of the halluces NOT_TRANSLATED -HP:0012386 Aplasia of the hallux NOT_TRANSLATED -HP:0012386 Missing big toe NOT_TRANSLATED -HP:0012390 Anal erosion NOT_TRANSLATED -HP:0012392 Mandibular hyporeflexia NOT_TRANSLATED -HP:0012397 Aortic atherosclerosis NOT_TRANSLATED -HP:0012397 Atherosclerosis of the aorta NOT_TRANSLATED -HP:0012397 Atherosclerotic changes of aorta NOT_TRANSLATED -HP:0012397 Plaque build-up in aorta artery NOT_TRANSLATED -HP:0012398 Peripheral oedema NOT_TRANSLATED -HP:0012399 Bedsore NOT_TRANSLATED -HP:0012399 Decubitus Ulcer NOT_TRANSLATED -HP:0012399 Pressure Sore NOT_TRANSLATED -HP:0012401 Abnormal urinary 2-oxoglutarate level NOT_TRANSLATED -HP:0012401 Abnormality of urine alpha ketoglutarate concentration NOT_TRANSLATED -HP:0012402 Elevated urinary 2-oxoglutarate NOT_TRANSLATED -HP:0012403 Decreased urinary 2-oxoglutarate NOT_TRANSLATED -HP:0012404 Abnormal urine citric acid concentration NOT_TRANSLATED -HP:0012405 Decreased urine citrate concentration NOT_TRANSLATED -HP:0012406 Increased urine citrate concentration NOT_TRANSLATED -HP:0012407 Scissor walk NOT_TRANSLATED -HP:0012407 Scissors gait NOT_TRANSLATED -HP:0012410 Red cell aplasia NOT_TRANSLATED -HP:0012411 Premature pubic hair growth NOT_TRANSLATED -HP:0012413 Notched front baby tooth NOT_TRANSLATED -HP:0012413 Notched front deciduous tooth NOT_TRANSLATED -HP:0012413 Notched front primary tooth NOT_TRANSLATED -HP:0012413 Syphilitic primary incisor NOT_TRANSLATED -HP:0012416 High blood carbon dioxide level NOT_TRANSLATED -HP:0012416 Hypercarbia NOT_TRANSLATED -HP:0012417 Hypocarbia NOT_TRANSLATED -HP:0012417 Reduced carbon dioxide in the blood NOT_TRANSLATED -HP:0012418 Hypoxia NOT_TRANSLATED -HP:0012418 Low blood oxygen level NOT_TRANSLATED -HP:0012420 Meconium staining of amniotic fluid NOT_TRANSLATED -HP:0012420 Meconium-stained amniotic fluid NOT_TRANSLATED -HP:0012421 Absent foreskin NOT_TRANSLATED -HP:0012421 Aposthia NOT_TRANSLATED -HP:0012422 Choroid plexus hypertrophy NOT_TRANSLATED -HP:0012422 Diffuse villous hypertrophy of choroid plexus NOT_TRANSLATED -HP:0012425 Colon ulcer NOT_TRANSLATED -HP:0012425 Recto-sigmoid colon stercoral ulcer NOT_TRANSLATED -HP:0012426 Optic nerve head drusen NOT_TRANSLATED -HP:0012427 Excessive femoral anteversion NOT_TRANSLATED -HP:0012427 Increased femoral neck anteversion NOT_TRANSLATED -HP:0012427 Internally rotated hips NOT_TRANSLATED -HP:0012428 Prominent heel bone NOT_TRANSLATED -HP:0012429 Absent/small cerebral white matter NOT_TRANSLATED -HP:0012429 Absent/underdeveloped cerebral white matter NOT_TRANSLATED -HP:0012430 Paucity of cerebral white matter NOT_TRANSLATED -HP:0012432 Chronic extreme exhaustion NOT_TRANSLATED -HP:0012433 Abnormal social behaviour NOT_TRANSLATED -HP:0012433 Abnormal social interactions NOT_TRANSLATED -HP:0012436 Non-occlusive coronary artery disease NOT_TRANSLATED -HP:0012436 Non-occlusive coronary artery stenosis NOT_TRANSLATED -HP:0012436 Nonocclusive coronary artery disease NOT_TRANSLATED -HP:0012436 Nonocclusive coronary artery stenosis NOT_TRANSLATED -HP:0012437 Abnormal gallbladder structure NOT_TRANSLATED -HP:0012437 Abnormal shape of gallbladder NOT_TRANSLATED -HP:0012440 Anomaly of the biliary tract NOT_TRANSLATED -HP:0012441 Sphincter of Oddi dysfunction NOT_TRANSLATED -HP:0012443 Abnormal shape of brain NOT_TRANSLATED -HP:0012443 Abnormality of the brain NOT_TRANSLATED -HP:0012444 Brain degeneration NOT_TRANSLATED -HP:0012444 Brain wasting NOT_TRANSLATED -HP:0012446 Cerebral folate deficiency NOT_TRANSLATED -HP:0012446 Low CSF 5-methyltetrahydrofolate NOT_TRANSLATED -HP:0012446 Reduced CSF 5-methyltetrahydrofolate concentration NOT_TRANSLATED -HP:0012450 Infrequent bowel movements NOT_TRANSLATED -HP:0012452 Restless legs syndrome NOT_TRANSLATED -HP:0012452 Willis-Ekbom disease NOT_TRANSLATED -HP:0012452 Wittmaack-Ekbom syndrome NOT_TRANSLATED -HP:0012453 Bilateral wrist contracture NOT_TRANSLATED -HP:0012454 Unilateral wrist contracture NOT_TRANSLATED -HP:0012459 Alarm clock headache NOT_TRANSLATED -HP:0012461 Bacteria in urine NOT_TRANSLATED -HP:0012461 High urine bacteria NOT_TRANSLATED -HP:0012462 Chin spasms NOT_TRANSLATED -HP:0012462 Geniospasm NOT_TRANSLATED -HP:0012465 Increased iron concentration in liver NOT_TRANSLATED -HP:0012465 Increased liver iron level NOT_TRANSLATED -HP:0012470 Eyes fixed downward NOT_TRANSLATED -HP:0012470 Sun setting eyes NOT_TRANSLATED -HP:0012470 Sunsetting eye NOT_TRANSLATED -HP:0012471 Full lips NOT_TRANSLATED -HP:0012471 Increased volume of lip NOT_TRANSLATED -HP:0012471 Increased volume of lip vermillion NOT_TRANSLATED -HP:0012471 Plump lips NOT_TRANSLATED -HP:0012471 Prominent lips NOT_TRANSLATED -HP:0012471 Thick lips NOT_TRANSLATED -HP:0012472 Eclabium NOT_TRANSLATED -HP:0012472 Everted lips NOT_TRANSLATED -HP:0012472 Outward turned lips NOT_TRANSLATED -HP:0012473 Atrophy of the tongue NOT_TRANSLATED -HP:0012473 Lingual atrophy NOT_TRANSLATED -HP:0012473 Lingual wasting NOT_TRANSLATED -HP:0012473 Wasting of the tongue NOT_TRANSLATED -HP:0012474 Obstructed carotid artery NOT_TRANSLATED -HP:0012475 Abnormal specific antibody response NOT_TRANSLATED -HP:0012475 Decreased specific antibody in blood NOT_TRANSLATED -HP:0012475 Specific antibody deficiency NOT_TRANSLATED -HP:0012476 Low pneumococcal antibody titer NOT_TRANSLATED -HP:0012476 Specific pneumococcal antibody deficiency NOT_TRANSLATED -HP:0012477 Shakey voice NOT_TRANSLATED -HP:0012478 Adhesion of the temporomandibular joint NOT_TRANSLATED -HP:0012478 Ankylosis of temporomandibular joint NOT_TRANSLATED -HP:0012478 Freezing of jaw joint NOT_TRANSLATED -HP:0012478 Freezing of the temporomandibular joint NOT_TRANSLATED -HP:0012478 Rigidity of the temporomandibular joint NOT_TRANSLATED -HP:0012478 Temporomandibular joint fusion NOT_TRANSLATED -HP:0012479 Jaw joint clicking sound NOT_TRANSLATED -HP:0012479 Jaw joint crepitus NOT_TRANSLATED -HP:0012479 Jaw joint grating sound NOT_TRANSLATED -HP:0012479 Jaw joint noise NOT_TRANSLATED -HP:0012479 Jaw joint popping sound NOT_TRANSLATED -HP:0012479 Jaw joint sounds NOT_TRANSLATED -HP:0012479 Temporomandibular joint clicking sound NOT_TRANSLATED -HP:0012479 Temporomandibular joint grating sound NOT_TRANSLATED -HP:0012479 Temporomandibular joint noise NOT_TRANSLATED -HP:0012479 Temporomandibular joint popping sound NOT_TRANSLATED -HP:0012479 Temporomandibular joint sounds NOT_TRANSLATED -HP:0012480 Abnormality of cerebral veins NOT_TRANSLATED -HP:0012481 Developmental Venous Anomaly NOT_TRANSLATED -HP:0012486 Inflammation of spinal cord NOT_TRANSLATED -HP:0012490 Inflammation of adipose tissue NOT_TRANSLATED -HP:0012490 Inflammation of fat tissue NOT_TRANSLATED -HP:0012492 Narrowing of a cerebral artery NOT_TRANSLATED -HP:0012499 Type B aortic dissection NOT_TRANSLATED -HP:0012500 Papillomatous papule NOT_TRANSLATED -HP:0012501 Abnormality of the brainstem white matter NOT_TRANSLATED -HP:0012503 disorder of pituitary gland NOT_TRANSLATED -HP:0012507 Weakness of orbicularis oculi muscles NOT_TRANSLATED -HP:0012510 Extra-axial CSF accumulation NOT_TRANSLATED -HP:0012514 Leg pain NOT_TRANSLATED -HP:0012518 Abnormality of the cerebral arterial circle NOT_TRANSLATED -HP:0012519 Hypoplastic posterior communicating arteries NOT_TRANSLATED -HP:0012520 Dilated cerebral perivascular spaces NOT_TRANSLATED -HP:0012520 Dilated Virchow-Robin spaces NOT_TRANSLATED -HP:0012520 Perivascular spaces NOT_TRANSLATED -HP:0012521 Absent optic nerve NOT_TRANSLATED -HP:0012521 Aplastic optic nerve NOT_TRANSLATED -HP:0012526 Gray platelets NOT_TRANSLATED -HP:0012526 Grey platelets NOT_TRANSLATED -HP:0012532 Long-lasting pain NOT_TRANSLATED -HP:0012534 Dysaesthesia NOT_TRANSLATED -HP:0012534 Dysesthesias NOT_TRANSLATED -HP:0012534 Hyperalgesia NOT_TRANSLATED -HP:0012534 Hyperpathia NOT_TRANSLATED -HP:0012535 Abnormality of neurotransmitter metabolism NOT_TRANSLATED -HP:0012537 Non-allergic food hypersensitivity NOT_TRANSLATED -HP:0012538 Gluten sensitivity NOT_TRANSLATED -HP:0012540 Armpit cyst NOT_TRANSLATED -HP:0012541 Cephalohaematoma NOT_TRANSLATED -HP:0012548 Skeletal muscle fatty infiltration NOT_TRANSLATED -HP:0012553 Small thumbnail NOT_TRANSLATED -HP:0012553 Underdeveloped thumbnail NOT_TRANSLATED -HP:0012555 Absent big toe nail NOT_TRANSLATED -HP:0012555 Absent nail of big toe NOT_TRANSLATED -HP:0012556 High blood beta-alanine levels NOT_TRANSLATED -HP:0012556 Hyperbetaalaninemia NOT_TRANSLATED -HP:0012568 Cellulitis of lower eyelid NOT_TRANSLATED -HP:0012568 Fullness of lower eyelid NOT_TRANSLATED -HP:0012568 Lower eyelid oedema NOT_TRANSLATED -HP:0012568 Puffiness of lower eyelid NOT_TRANSLATED -HP:0012568 Swelling of lower eyelid NOT_TRANSLATED -HP:0012569 Delayed start of first period NOT_TRANSLATED -HP:0012570 Malignant synovioma NOT_TRANSLATED -HP:0012571 Partially duplicated ureter NOT_TRANSLATED -HP:0012574 Mesangial proliferation NOT_TRANSLATED -HP:0012575 Abnormality of the nephron NOT_TRANSLATED -HP:0012576 C3 nephropathy NOT_TRANSLATED -HP:0012576 Renal C3 deposition NOT_TRANSLATED -HP:0012578 Membranous glomerulonephritis NOT_TRANSLATED -HP:0012579 Minimal change disease NOT_TRANSLATED -HP:0012579 Minimal change nephropathy NOT_TRANSLATED -HP:0012580 Ca phosphate nephrolithiasis NOT_TRANSLATED -HP:0012580 Ca phosphate urolithiasis NOT_TRANSLATED -HP:0012580 Ca2+ phosphate nephrolitiasis NOT_TRANSLATED -HP:0012580 Ca2+ phosphate urolithiasis NOT_TRANSLATED -HP:0012580 Calcium phosphate urolithiasis NOT_TRANSLATED -HP:0012581 Simple kidney cyst NOT_TRANSLATED -HP:0012581 single cortical cyst NOT_TRANSLATED -HP:0012581 Solitary renal cyst NOT_TRANSLATED -HP:0012583 Small kidney on one side NOT_TRANSLATED -HP:0012583 Underdeveloped kidney on one side NOT_TRANSLATED -HP:0012585 Kidney degeneration NOT_TRANSLATED -HP:0012586 Bilateral kidney degeneration NOT_TRANSLATED -HP:0012587 Bloody urine NOT_TRANSLATED -HP:0012587 Gross hematuria NOT_TRANSLATED -HP:0012588 SRNS NOT_TRANSLATED -HP:0012591 Urinary electrolyte imbalance NOT_TRANSLATED -HP:0012594 High urine albumin levels NOT_TRANSLATED -HP:0012594 Microalbuminuria NOT_TRANSLATED -HP:0012597 Severly high blood protein levels NOT_TRANSLATED -HP:0012598 Abnormal urine K concentration NOT_TRANSLATED -HP:0012600 Abnormal urine Cl concentration NOT_TRANSLATED -HP:0012600 Abnormal urine Cl- concentration NOT_TRANSLATED -HP:0012601 Decreased urinary chloride NOT_TRANSLATED -HP:0012601 Low urine chloride levels NOT_TRANSLATED -HP:0012602 Kidney chloride wasting NOT_TRANSLATED -HP:0012602 Renal Cl wasting NOT_TRANSLATED -HP:0012602 Renal Cl- wasting NOT_TRANSLATED -HP:0012603 Abnormal urine Na concentration NOT_TRANSLATED -HP:0012603 Abnormal urine Na+ levels NOT_TRANSLATED -HP:0012604 Low urine sodium levels NOT_TRANSLATED -HP:0012605 Increased urinary sodium NOT_TRANSLATED -HP:0012606 Kidney sodium wasting NOT_TRANSLATED -HP:0012606 Renal Na wasting NOT_TRANSLATED -HP:0012606 Renal Na+ wasting NOT_TRANSLATED -HP:0012609 Decreased urine magnesium NOT_TRANSLATED -HP:0012609 Low urine magnesium levels NOT_TRANSLATED -HP:0012612 Abnormal urinary sulphate concentration NOT_TRANSLATED -HP:0012613 Increased urinary sulphate NOT_TRANSLATED -HP:0012615 Urinary casts NOT_TRANSLATED -HP:0012616 White blood cell casts NOT_TRANSLATED -HP:0012617 Red blood cell casts NOT_TRANSLATED -HP:0012617 Urinary erythrocyte cast NOT_TRANSLATED -HP:0012619 Multiple pouches in bladder wall NOT_TRANSLATED -HP:0012621 Cloacogenic bladder NOT_TRANSLATED -HP:0012622 Loss of renal function NOT_TRANSLATED -HP:0012622 Progressive renal failure NOT_TRANSLATED -HP:0012622 Progressive renal insufficiency NOT_TRANSLATED -HP:0012622 Renal failure, progressive NOT_TRANSLATED -HP:0012622 Renal insufficiency, progressive NOT_TRANSLATED -HP:0012628 Abnormality of the suspensory ligament of lens NOT_TRANSLATED -HP:0012628 Abnormality of zinn's membrane NOT_TRANSLATED -HP:0012628 Ciliary zonule abnormality NOT_TRANSLATED -HP:0012628 Zonule of zinn abnormality NOT_TRANSLATED -HP:0012629 Phacodonesis NOT_TRANSLATED -HP:0012629 Trembling eye lens NOT_TRANSLATED -HP:0012630 Abnormality of the trabecular meshwork NOT_TRANSLATED -HP:0012632 Abnormal eye pressure NOT_TRANSLATED -HP:0012637 Kidney Ca wasting NOT_TRANSLATED -HP:0012637 Kidney Ca2+ wasting NOT_TRANSLATED -HP:0012637 Kidney calcium wasting NOT_TRANSLATED -HP:0012637 Renal Ca wasting NOT_TRANSLATED -HP:0012637 Renal Ca2+ wasting NOT_TRANSLATED -HP:0012638 Abnormality of nervous system physiology NOT_TRANSLATED -HP:0012639 Abnormal shape of nervous system NOT_TRANSLATED -HP:0012639 Abnormality of nervous system morphology NOT_TRANSLATED -HP:0012641 Intracranial hypotension NOT_TRANSLATED -HP:0012645 Enlarged peripheral nerves NOT_TRANSLATED -HP:0012646 Retractile testicle NOT_TRANSLATED -HP:0012650 Frontoparietal polymicrogyria NOT_TRANSLATED -HP:0012653 Acute severe asthma NOT_TRANSLATED -HP:0012654 Abnormal CSF dopamine level NOT_TRANSLATED -HP:0012657 Abnormal brain PET scan NOT_TRANSLATED -HP:0012658 Abnormal brain FDG PET scan NOT_TRANSLATED -HP:0012663 Mildly reduced ejection fraction NOT_TRANSLATED -HP:0012664 Reduced ejection fraction NOT_TRANSLATED -HP:0012665 Moderately reduced ejection fraction NOT_TRANSLATED -HP:0012666 Severely reduced ejection fraction NOT_TRANSLATED -HP:0012668 Neurocardiogenic syncope NOT_TRANSLATED -HP:0012668 Reflex syncope NOT_TRANSLATED -HP:0012668 Situational syncope NOT_TRANSLATED -HP:0012671 Aboulia NOT_TRANSLATED -HP:0012673 Absent upper vagina NOT_TRANSLATED -HP:0012674 Absent lower vagina NOT_TRANSLATED -HP:0012674 Agenesis of the lower vagina NOT_TRANSLATED -HP:0012675 Brain iron deposition NOT_TRANSLATED -HP:0012676 Brain copper accumulation NOT_TRANSLATED -HP:0012681 Abnormality of pineal morphology NOT_TRANSLATED -HP:0012699 Anomaly of shaft of long bone of lower limb NOT_TRANSLATED -HP:0012701 Faecal urgency NOT_TRANSLATED -HP:0012701 Fecal urgency NOT_TRANSLATED -HP:0012703 Abnormality of the subarachnoid space NOT_TRANSLATED -HP:0012704 Enlarged subarachnoid space NOT_TRANSLATED -HP:0012704 Widened subarachnoid spaces NOT_TRANSLATED -HP:0012708 Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0012711 Delayed maturation of the end part of the vertebral bone NOT_TRANSLATED -HP:0012714 Severe deafness NOT_TRANSLATED -HP:0012714 Severe hearing loss NOT_TRANSLATED -HP:0012716 Conductive hearing loss, moderate NOT_TRANSLATED -HP:0012717 Conductive hearing loss, severe NOT_TRANSLATED -HP:0012718 Abnormal shape of the digestive system NOT_TRANSLATED -HP:0012718 Morphological abnormality of the GI tract NOT_TRANSLATED -HP:0012718 Morphological anomaly of the digestive system NOT_TRANSLATED -HP:0012719 Functional abnormality of the GI tract NOT_TRANSLATED -HP:0012719 GI dysfunction NOT_TRANSLATED -HP:0012720 Nasal neoplasm NOT_TRANSLATED -HP:0012720 Nasal tumor NOT_TRANSLATED -HP:0012720 Nasal tumour NOT_TRANSLATED -HP:0012720 Neoplasia of the nose NOT_TRANSLATED -HP:0012720 Nose cancer NOT_TRANSLATED -HP:0012720 Tumor of the nose NOT_TRANSLATED -HP:0012720 Tumour of the nose NOT_TRANSLATED -HP:0012721 Venous malformations NOT_TRANSLATED -HP:0012724 Cellulitis of upper eyelid NOT_TRANSLATED -HP:0012724 Fullness of upper eyelid NOT_TRANSLATED -HP:0012724 Puffiness of upper eyelid NOT_TRANSLATED -HP:0012724 Swelling of upper eyelid NOT_TRANSLATED -HP:0012724 Upper eyelid oedema NOT_TRANSLATED -HP:0012725 Cutaneous syndactyly of digits NOT_TRANSLATED -HP:0012725 Syndactyly, cutaneous NOT_TRANSLATED -HP:0012726 Recurrent low potassium NOT_TRANSLATED -HP:0012727 Dilatation of the thoracic aorta NOT_TRANSLATED -HP:0012728 Dilatation of the fusiform descending thoracic aorta NOT_TRANSLATED -HP:0012729 Dilatation of the saccular descending thoracic aorta NOT_TRANSLATED -HP:0012730 Absence of tongue NOT_TRANSLATED -HP:0012730 Failure of development of tongue NOT_TRANSLATED -HP:0012730 Missing tongue NOT_TRANSLATED -HP:0012733 Flat, discolored area of skin NOT_TRANSLATED -HP:0012733 Flat, discoloured area of skin NOT_TRANSLATED -HP:0012734 Ketotic low blood sugar NOT_TRANSLATED -HP:0012735 Coughing NOT_TRANSLATED -HP:0012736 Global developmental delay, profound NOT_TRANSLATED -HP:0012736 Psychomotor retardation, profound NOT_TRANSLATED -HP:0012738 Absence of canine NOT_TRANSLATED -HP:0012738 Absence of eye tooth NOT_TRANSLATED -HP:0012738 Absent canines NOT_TRANSLATED -HP:0012738 Failure of development of canine NOT_TRANSLATED -HP:0012738 Failure of development of eye tooth NOT_TRANSLATED -HP:0012738 Missing canine NOT_TRANSLATED -HP:0012738 Missing eye tooth NOT_TRANSLATED -HP:0012739 Small bowel agenesis NOT_TRANSLATED -HP:0012739 Undeveloped small intestine NOT_TRANSLATED -HP:0012741 Cryptorchidism, unilateral NOT_TRANSLATED -HP:0012743 Central obesity NOT_TRANSLATED -HP:0012744 Absent femur NOT_TRANSLATED -HP:0012744 Absent thighbone NOT_TRANSLATED -HP:0012744 Aplasia of the femur NOT_TRANSLATED -HP:0012745 Decreased height of palpebral fissure NOT_TRANSLATED -HP:0012745 Short opening between the eyelids NOT_TRANSLATED -HP:0012745 Short palpebral fissures NOT_TRANSLATED -HP:0012746 Thin toenails NOT_TRANSLATED -HP:0012757 Abnormal neuron shape NOT_TRANSLATED -HP:0012757 Abnormal neuronal morphology NOT_TRANSLATED -HP:0012758 NDD NOT_TRANSLATED -HP:0012761 Absent mastoids NOT_TRANSLATED -HP:0012761 Failure of development of mastoid NOT_TRANSLATED -HP:0012761 Mastoid agenesis NOT_TRANSLATED -HP:0012763 Paroxysmal dyspnoea NOT_TRANSLATED -HP:0012768 Asphyxia neonatorum NOT_TRANSLATED -HP:0012776 Abnormality of the ciliary body NOT_TRANSLATED -HP:0012780 Ear tumor NOT_TRANSLATED -HP:0012780 Ear tumour NOT_TRANSLATED -HP:0012782 Perilobar nephrogenic rests NOT_TRANSLATED -HP:0012783 Intralobar nephrogenic rests NOT_TRANSLATED -HP:0012785 Flexion deformity of finger NOT_TRANSLATED -HP:0012786 Recurrent bladder infections NOT_TRANSLATED -HP:0012788 Mottled pigmentation of oral mucosa NOT_TRANSLATED -HP:0012788 Reticulate pigmentation of oral mucous membrane NOT_TRANSLATED -HP:0012789 Hypoplastic calcaneus NOT_TRANSLATED -HP:0012789 Small heel bone NOT_TRANSLATED -HP:0012789 Underdeveloped heel bone NOT_TRANSLATED -HP:0012790 Abnormal intramembranous bone ossification NOT_TRANSLATED -HP:0012791 Abnormal maturation of long bone in upper arm NOT_TRANSLATED -HP:0012793 Kinked brain stem NOT_TRANSLATED -HP:0012794 Periventricular cerebral white matter hypodensities NOT_TRANSLATED -HP:0012796 Elevated cup to disc ratio NOT_TRANSLATED -HP:0012796 Increased cup disc ratio NOT_TRANSLATED -HP:0012797 Lymphatic vessel tumor NOT_TRANSLATED -HP:0012797 Lymphatic vessel tumour NOT_TRANSLATED -HP:0012798 Lymphangioleiomyomatosis NOT_TRANSLATED -HP:0012798 Pulmonary myomatosis NOT_TRANSLATED -HP:0012799 Facial droop NOT_TRANSLATED -HP:0012799 Paralysis of one side of the face NOT_TRANSLATED -HP:0012799 Unilateral facial muscle paralysis NOT_TRANSLATED -HP:0012799 Unilateral facial muscle weakness NOT_TRANSLATED -HP:0012799 Unilateral facial paralysis NOT_TRANSLATED -HP:0012799 Unilateral facial weakness NOT_TRANSLATED -HP:0012799 Weakness of one side of the face NOT_TRANSLATED -HP:0012800 Accessory fontanelle NOT_TRANSLATED -HP:0012800 Extra cranial suture NOT_TRANSLATED -HP:0012800 Extra fontanelle NOT_TRANSLATED -HP:0012800 Supernumary cranial suture NOT_TRANSLATED -HP:0012800 Supernumary fontanelle NOT_TRANSLATED -HP:0012801 Narrow lower face NOT_TRANSLATED -HP:0012801 Narrow lower jaw NOT_TRANSLATED -HP:0012801 Narrow mandible NOT_TRANSLATED -HP:0012801 Thin lower face NOT_TRANSLATED -HP:0012801 Thin lower jaw NOT_TRANSLATED -HP:0012802 Broad lower face NOT_TRANSLATED -HP:0012802 Broad mandible NOT_TRANSLATED -HP:0012802 Wide jaw NOT_TRANSLATED -HP:0012802 Wide mandible NOT_TRANSLATED -HP:0012804 Corneal ulcer NOT_TRANSLATED -HP:0012804 Corneal ulcerations NOT_TRANSLATED -HP:0012807 Ala lower than columella NOT_TRANSLATED -HP:0012807 Columella, high insertion NOT_TRANSLATED -HP:0012808 Abnormal nasal base NOT_TRANSLATED -HP:0012808 Abnormality of base of nose NOT_TRANSLATED -HP:0012808 Anomaly of base of nose NOT_TRANSLATED -HP:0012808 Anomaly of nasal base NOT_TRANSLATED -HP:0012808 Deformity of base of nose NOT_TRANSLATED -HP:0012808 Deformity of nasal base NOT_TRANSLATED -HP:0012808 Malformation of base of nose NOT_TRANSLATED -HP:0012808 Malformation of nasal base NOT_TRANSLATED -HP:0012809 Decreased width of base of nose NOT_TRANSLATED -HP:0012809 Decreased width of nasal base NOT_TRANSLATED -HP:0012809 Narrow base of nose NOT_TRANSLATED -HP:0012809 Thin base of nose NOT_TRANSLATED -HP:0012809 Thin nasal base NOT_TRANSLATED -HP:0012810 Broad base of nose NOT_TRANSLATED -HP:0012810 Broad nasal base NOT_TRANSLATED -HP:0012810 Increased width of base of nose NOT_TRANSLATED -HP:0012810 Increased width of nasal base NOT_TRANSLATED -HP:0012810 Wide base of nose NOT_TRANSLATED -HP:0012811 Broad dorsum of nose NOT_TRANSLATED -HP:0012811 Broad nasal dorsum NOT_TRANSLATED -HP:0012811 Broad nasal ridge NOT_TRANSLATED -HP:0012811 Increased width of dorsum of nose NOT_TRANSLATED -HP:0012811 Increased width of nasal dorsum NOT_TRANSLATED -HP:0012811 Increased width of nasal ridge NOT_TRANSLATED -HP:0012811 Nasal ridge, wide NOT_TRANSLATED -HP:0012811 Wide dorsum of nose NOT_TRANSLATED -HP:0012811 Wide nasal dorsum NOT_TRANSLATED -HP:0012812 Fullness of tissue around the nose NOT_TRANSLATED -HP:0012812 Hyperplasia of paranasal tissue NOT_TRANSLATED -HP:0012812 Hypertrophy of paranasal tissue NOT_TRANSLATED -HP:0012812 Laterally built up nose NOT_TRANSLATED -HP:0012812 Paranasal fullness NOT_TRANSLATED -HP:0012812 Thick paranasal tissue NOT_TRANSLATED -HP:0012812 Thick tissue around the nose NOT_TRANSLATED -HP:0012813 One underdeveloped breast NOT_TRANSLATED -HP:0012814 Two underdeveloped breasts NOT_TRANSLATED -HP:0012815 Underdeveloped female external genitalia NOT_TRANSLATED -HP:0012817 Noncompaction of the ventricular myocardium NOT_TRANSLATED -HP:0012817 Spongiform cardiomyopathy NOT_TRANSLATED -HP:0012819 Inflammation of heart muscle NOT_TRANSLATED -HP:0012823 Phenotypic modifier NOT_TRANSLATED -HP:0012824 Intensity NOT_TRANSLATED -HP:0012834 Right-sided NOT_TRANSLATED -HP:0012835 Left-sided NOT_TRANSLATED -HP:0012837 Generalised NOT_TRANSLATED -HP:0012838 Localised NOT_TRANSLATED -HP:0012839 Outermost NOT_TRANSLATED -HP:0012841 Tortuous retinal vessels NOT_TRANSLATED -HP:0012842 Skin adnexal neoplasm NOT_TRANSLATED -HP:0012842 Skin adnexal tumor NOT_TRANSLATED -HP:0012842 Skin adnexal tumour NOT_TRANSLATED -HP:0012844 Tricholemmoma NOT_TRANSLATED -HP:0012846 Multiple trichilemmomas NOT_TRANSLATED -HP:0012847 Epilepsia partialis continua of Kojevnikov NOT_TRANSLATED -HP:0012847 Kojevnikov's epilepsia NOT_TRANSLATED -HP:0012847 Kozhevnikov's epilepsia NOT_TRANSLATED -HP:0012848 Narrowing of small intestine NOT_TRANSLATED -HP:0012849 Small intestinal haemorrhage NOT_TRANSLATED -HP:0012849 Small intestinal hemorrhage NOT_TRANSLATED -HP:0012851 Narrowing of the colon NOT_TRANSLATED -HP:0012851 Stenosis of the colon NOT_TRANSLATED -HP:0012855 Hyperpigmentation of the scrotum NOT_TRANSLATED -HP:0012855 Hyperpigmented scrotum NOT_TRANSLATED -HP:0012855 Increased pigmentation in scrotum NOT_TRANSLATED -HP:0012859 Esophageal epidermoid metaplasia NOT_TRANSLATED -HP:0012860 Fibrotic testes NOT_TRANSLATED -HP:0012860 Fibrotic testicle NOT_TRANSLATED -HP:0012862 Abnormal shape of a reproductive cell NOT_TRANSLATED -HP:0012862 Abnormally shaped germ cell NOT_TRANSLATED -HP:0012862 Abnormally shaped reproductive cell NOT_TRANSLATED -HP:0012864 Abnormal shape of sperm NOT_TRANSLATED -HP:0012864 Teratospermia NOT_TRANSLATED -HP:0012864 Teratozoospermia NOT_TRANSLATED -HP:0012865 Sperm head anomaly NOT_TRANSLATED -HP:0012866 Sperm neck anomaly NOT_TRANSLATED -HP:0012867 Sperm mid-piece anomaly NOT_TRANSLATED -HP:0012868 Sperm tail anomaly NOT_TRANSLATED -HP:0012870 Testicular regression syndrome NOT_TRANSLATED -HP:0012871 Vaginal varicocele NOT_TRANSLATED -HP:0012873 Absent deferent duct NOT_TRANSLATED -HP:0012873 Absent ductus deferens NOT_TRANSLATED -HP:0012873 Congenital absence of the vas deferens NOT_TRANSLATED -HP:0012874 Abnormal male genital system physiology NOT_TRANSLATED -HP:0012878 Delayed ejaculation NOT_TRANSLATED -HP:0012879 Ejaculatory incompetence NOT_TRANSLATED -HP:0012880 Abnormality of the inner vaginal lips NOT_TRANSLATED -HP:0012880 Abnormality of the labia minora NOT_TRANSLATED -HP:0012881 Abnormality of the labia majora NOT_TRANSLATED -HP:0012881 Abnormality of vaginal lips NOT_TRANSLATED -HP:0012882 Enlarged labia majora NOT_TRANSLATED -HP:0012882 Hyperplasia of labia majora NOT_TRANSLATED -HP:0012884 Twisted fallopian tube NOT_TRANSLATED -HP:0012885 Accessory fallopian tube NOT_TRANSLATED -HP:0012887 Serous ovarian cyst NOT_TRANSLATED -HP:0012888 Abnormality of the uterine cervix NOT_TRANSLATED -HP:0012891 High hairline at back of head NOT_TRANSLATED -HP:0012892 Hyperplasia of facial muscles NOT_TRANSLATED -HP:0012892 Increased size of facial muscles NOT_TRANSLATED -HP:0012892 Large facial muscles NOT_TRANSLATED -HP:0012893 Hyperplasia of neck muscles NOT_TRANSLATED -HP:0012893 Hypertrophy of cervical muscles NOT_TRANSLATED -HP:0012893 Increased size of neck muscles NOT_TRANSLATED -HP:0012893 Large neck muscles NOT_TRANSLATED -HP:0012893 Overgrowth of neck muscles NOT_TRANSLATED -HP:0012897 Abnormal motor evoked potentials in the upper limb NOT_TRANSLATED -HP:0012898 Abnormal motor evoked potentials in the lower limb NOT_TRANSLATED -HP:0012899 Grip myotonia NOT_TRANSLATED -HP:0012905 Kabuki syndrome eyelids NOT_TRANSLATED -HP:0410006 Ophthalmic artery anomaly NOT_TRANSLATED -HP:0410005 Cleft bony palate NOT_TRANSLATED -HP:0410005 Cleft of hard palate NOT_TRANSLATED -HP:0410003 Alveolar cleft NOT_TRANSLATED -HP:0410003 Cleft alveolar process of maxilla NOT_TRANSLATED -HP:0410003 Cleft anterior maxilla NOT_TRANSLATED -HP:0410003 Cleft primary palate NOT_TRANSLATED -HP:0410000 Abnormality of vomer NOT_TRANSLATED -HP:0410000 Abnormality of vomer bone NOT_TRANSLATED -HP:0410000 Defect of vomer NOT_TRANSLATED -HP:0410014 Abnormality of ganglion NOT_TRANSLATED -HP:0410015 Abnormality of ganglion of peripheral nervous system NOT_TRANSLATED -HP:0410012 Abnormality of the floor of mouth NOT_TRANSLATED -HP:0410012 Abnormality of the mouth floor NOT_TRANSLATED -HP:0410011 Abnormality of muscles of mastication NOT_TRANSLATED -HP:0410022 Vaginal fish odour NOT_TRANSLATED -HP:0410020 Fish odour NOT_TRANSLATED -HP:0410020 Fishy body odor NOT_TRANSLATED -HP:0410020 Fishy body odour NOT_TRANSLATED -HP:0410020 Fishy odor NOT_TRANSLATED -HP:0410020 Fishy odour NOT_TRANSLATED -HP:0410021 Musty odour NOT_TRANSLATED -HP:0410018 Frequent ear infections NOT_TRANSLATED -HP:0410019 Epigastrium pain NOT_TRANSLATED -HP:0410016 Abnormality of cranial ganglion NOT_TRANSLATED -HP:0410017 Swimmer's ear NOT_TRANSLATED -HP:0410030 Cleft of the lip NOT_TRANSLATED -HP:0410028 Recurrent herpes labialis NOT_TRANSLATED -HP:0410026 Abnormality of the periodontium NOT_TRANSLATED -HP:0410027 Bone loss around teeth NOT_TRANSLATED -HP:0410035 Abnormal T lymphocyte activation NOT_TRANSLATED -HP:0410035 Abnormal T-cell activation NOT_TRANSLATED -HP:0410035 Abnormal T-lymphocyte activation NOT_TRANSLATED -HP:0410054 Decreased circulating gamma-aminobutyric acid concentration NOT_TRANSLATED -HP:0410054 Decreased level of gamma-aminobutyric acid in serum NOT_TRANSLATED -HP:0410053 Increased circulating GABA concentration NOT_TRANSLATED -HP:0410053 Increased level of GABA in serum NOT_TRANSLATED -HP:0410053 Increased level of gamma-aminobutyric acid in serum NOT_TRANSLATED -HP:0410050 Decreased level of 1,5-AG in serum NOT_TRANSLATED -HP:0410050 Decreased level of 1,5-anhydro-D-glucitol in serum NOT_TRANSLATED -HP:0410050 Decreased level of 1,5-anhydroglucitol in serum NOT_TRANSLATED -HP:0410049 Abnormality of radial ray NOT_TRANSLATED -HP:0410049 Deformity of radial ray NOT_TRANSLATED -HP:0410049 Radial ray abnormality NOT_TRANSLATED -HP:0410049 Radial ray anomaly NOT_TRANSLATED -HP:0410049 Radial ray deformity NOT_TRANSLATED -HP:0410063 Increased level of galactonate in erythrocytes NOT_TRANSLATED -HP:0410063 Increased level of galactonate in RBCs NOT_TRANSLATED -HP:0410058 Increased level of D-threitol in cerebrospinal fluid NOT_TRANSLATED -HP:0410056 Decreased level of erythritol in cerebrospinal fluid NOT_TRANSLATED -HP:0410071 Increased level of ribitol in cerebrospinal fluid NOT_TRANSLATED -HP:0410069 Increased level of propane-1,2-diol in blood NOT_TRANSLATED -HP:0410066 Increased level of N-benzoylglycine in urine NOT_TRANSLATED -HP:0410064 Increased level of galactitol in erythrocytes NOT_TRANSLATED -HP:0410065 Increased level of N-benzoylglycine in blood NOT_TRANSLATED -HP:0410075 Increased level of xylitol in cerebrospinal fluid NOT_TRANSLATED -HP:0410073 Increased level of ribose in cerebrospinal fluid NOT_TRANSLATED -HP:0410132 Elevated urine 5-oxoproline NOT_TRANSLATED -HP:0410132 Increased level of 5-oxo-L-proline in urine NOT_TRANSLATED -HP:0410133 Chronic spontaneous urticaria NOT_TRANSLATED -HP:0410133 CIU NOT_TRANSLATED -HP:0410133 CSU NOT_TRANSLATED -HP:0410151 Eosinophilic esophagitis NOT_TRANSLATED -HP:0410151 Eosinophilic infiltration of the oesophagus NOT_TRANSLATED -HP:0410149 Drug induced anaphylaxis NOT_TRANSLATED -HP:0410147 Eosinophilic gastritis NOT_TRANSLATED -HP:0410156 Increased level of NANA in urine NOT_TRANSLATED -HP:0410156 Increased level of Neu5Ac in urine NOT_TRANSLATED -HP:0410157 Increased level of NANA in fibroblasts NOT_TRANSLATED -HP:0410157 Increased level of Neu5Ac in fibroblasts NOT_TRANSLATED -HP:0410157 Increased level of sialic acid in fibroblasts NOT_TRANSLATED -HP:0410154 Increased level of tetradecanoic acid in serum NOT_TRANSLATED -HP:0410152 Eosinophilic micro-abscess formation in the esophagus NOT_TRANSLATED -HP:0410152 Eosinophilic micro-abscess formation in the oesophagus NOT_TRANSLATED -HP:0410152 Eosinophilic microabscess formation in the oesophagus NOT_TRANSLATED -HP:0410153 Increased level of pyrotartaric acid in urine NOT_TRANSLATED -HP:0410167 Abnormality of the chest musculature NOT_TRANSLATED -HP:0410167 Muscle issues in the chest NOT_TRANSLATED -HP:0410174 Increased troponin T level in blood NOT_TRANSLATED -HP:0410175 Elevated circulating ketone body concentration NOT_TRANSLATED -HP:0410175 Increased level of ketone bodies in blood NOT_TRANSLATED -HP:0410175 Ketonemia NOT_TRANSLATED -HP:0410173 Increased troponin I level in blood NOT_TRANSLATED -HP:0410170 Atrophy of the hippocampus NOT_TRANSLATED -HP:0410170 Degeneration of the hippocampus NOT_TRANSLATED -HP:0410168 Muscle issues in the back NOT_TRANSLATED -HP:0410169 Abnormality of the shoulder musculature NOT_TRANSLATED -HP:0410169 Muscle issues in the shoulder NOT_TRANSLATED -HP:0410182 Decreased G6PD level in dried blood spot NOT_TRANSLATED -HP:0410182 Decreased glucose-6-phosphate dehydrogenase level in DBS NOT_TRANSLATED -HP:0410183 Abnormal G6PD level in leukocytes NOT_TRANSLATED -HP:0410180 Abnormal G6PD level in dried blood spot NOT_TRANSLATED -HP:0410180 Abnormal glucose-6-phosphate dehydrogenase level in DBS NOT_TRANSLATED -HP:0410181 Increased G6PD level in dried blood spot NOT_TRANSLATED -HP:0410181 Increased glucose-6-phosphate dehydrogenase level in DBS NOT_TRANSLATED -HP:0410178 Increased G6PD level in blood NOT_TRANSLATED -HP:0410179 Decreased G6PD level in blood NOT_TRANSLATED -HP:0410176 Abnormal G6PD level NOT_TRANSLATED -HP:0410177 Abnormal G6PD level in blood NOT_TRANSLATED -HP:0410190 Decreased G6PD level in leukocytes NOT_TRANSLATED -HP:0410191 Increased G6PD level in leukocytes NOT_TRANSLATED -HP:0410188 Decreased G6PD level in RBCs NOT_TRANSLATED -HP:0410188 Decreased G6PD level in red blood cells NOT_TRANSLATED -HP:0410189 Increased G6PD level in RBCs NOT_TRANSLATED -HP:0410189 Increased G6PD level in red blood cells NOT_TRANSLATED -HP:0410186 Increased G6PD level in tissue NOT_TRANSLATED -HP:0410187 Decreased G6PD level in tissue NOT_TRANSLATED -HP:0410184 Abnormal G6PD level in RBCs NOT_TRANSLATED -HP:0410184 Abnormal G6PD level in red blood cells NOT_TRANSLATED -HP:0410185 Abnormal G6PD level in tissue NOT_TRANSLATED -HP:0410198 Decreased UDP-glucose 4-epimerase level in RBCs NOT_TRANSLATED -HP:0410198 Decreased UDP-glucose 4-epimerase level in red blood cells NOT_TRANSLATED -HP:0410199 Elevated CSF urate concentration NOT_TRANSLATED -HP:0410199 Increased cerebrospinal fluid urate NOT_TRANSLATED -HP:0410196 Abnormal UDP-glucose 4-epimerase level in RBCs NOT_TRANSLATED -HP:0410196 Abnormal UDP-glucose 4-epimerase level in red blood cells NOT_TRANSLATED -HP:0410197 Increased UDP-glucose 4-epimerase level in RBCs NOT_TRANSLATED -HP:0410197 Increased UDP-glucose 4-epimerase level in red blood cells NOT_TRANSLATED -HP:0410194 Increased UDP-glucose 4-epimerase level in plasma NOT_TRANSLATED -HP:0410195 Decreased UDP-glucose 4-epimerase level in plasma NOT_TRANSLATED -HP:0410192 Abnormal UDP-glucose 4-epimerase level NOT_TRANSLATED -HP:0410193 Abnormal UDP-glucose 4-epimerase activity level in plasma NOT_TRANSLATED -HP:0410206 Increased circulating N-nicotinoylglycine level NOT_TRANSLATED -HP:0410205 Abnormal circulating N-nicotinoylglycine level NOT_TRANSLATED -HP:0410205 Abnormal circulating nicotinurate level NOT_TRANSLATED -HP:0410214 High cord blood carbon dioxide level NOT_TRANSLATED -HP:0410215 Low cord blood carbon dioxide level NOT_TRANSLATED -HP:0410212 High cord blood oxygen level NOT_TRANSLATED -HP:0410213 Low cord blood oxygen level NOT_TRANSLATED -HP:0410209 Folate deficiency in cerebrospinal fluid NOT_TRANSLATED -HP:0410222 Increased level of anti-seafood IgE antibody NOT_TRANSLATED -HP:0410223 Increased level of anti-dust mite IgE antibody NOT_TRANSLATED -HP:0410220 Increased anti-dairy IgE antibody level NOT_TRANSLATED -HP:0410221 Increased level of anti-animal protein IgE antibody NOT_TRANSLATED -HP:0410218 Disorder of maxillary and mandibular dental arch relationship NOT_TRANSLATED -HP:0410219 Disorder of mandibular and maxillary dental arch relationship NOT_TRANSLATED -HP:0410216 Abnormal serum methylfolate Level NOT_TRANSLATED -HP:0410217 Reduced serum methylfolate Level NOT_TRANSLATED -HP:0410228 Increased level of anti-plant based food allergen IgE antibody NOT_TRANSLATED -HP:0410229 Increased level of anti-gluten IgE antibody NOT_TRANSLATED -HP:0410227 Increased level of anti-food allergen IgE antibody NOT_TRANSLATED -HP:0410224 Increased level of anti-bacteria IgE antibody NOT_TRANSLATED -HP:0410225 Increased level of anti-drug IgE antibody NOT_TRANSLATED -HP:0410232 Increased anti-fungal IgE antibody level NOT_TRANSLATED -HP:0410232 Increased anti-fungus IgE antibody level NOT_TRANSLATED -HP:0410246 Elevated IgD NOT_TRANSLATED -HP:0410246 Elevated serum IgD NOT_TRANSLATED -HP:0410246 IgD hypergammaglobulinemia NOT_TRANSLATED -HP:0410246 Increased IgD level NOT_TRANSLATED -HP:0410246 Increased levels of IgD NOT_TRANSLATED -HP:0410246 Increased serum IgD NOT_TRANSLATED -HP:0410247 Increased level of anti-dander IgE antibody NOT_TRANSLATED -HP:0410244 Abnormal IgD level in blood NOT_TRANSLATED -HP:0410245 Decreased IgD NOT_TRANSLATED -HP:0410245 Decreased IgD in blood NOT_TRANSLATED -HP:0410245 IgD deficiency NOT_TRANSLATED -HP:0410242 Abnormal IgG level in blood NOT_TRANSLATED -HP:0410243 Abnormal IgM level in blood NOT_TRANSLATED -HP:0410240 Abnormal IgA level in blood NOT_TRANSLATED -HP:0410241 Abnormal IgE level in blood NOT_TRANSLATED -HP:0410253 Myeloid maturation arrest in bone marrow NOT_TRANSLATED -HP:0410248 Increased anti-house dust IgE antibody level NOT_TRANSLATED -HP:0410248 Increased level of anti-house dust IgE antibody NOT_TRANSLATED -HP:0410249 Increased anti-galactose-alpha-1, 3 galactose IgE antibody level NOT_TRANSLATED -HP:0410262 Abnormal lower cranial nerve function NOT_TRANSLATED -HP:0410263 Abnormal brain imaging NOT_TRANSLATED -HP:0410260 Asymmetrical buttock crease NOT_TRANSLATED -HP:0410260 Asymmetrical gluteal sulcus NOT_TRANSLATED -HP:0410260 Asymmetrical horizontal gluteal crease NOT_TRANSLATED -HP:0410261 Wide space between the 4th and 5th toe NOT_TRANSLATED -HP:0410259 Hepatic pulmonary fusion NOT_TRANSLATED -HP:0410271 Throat hemangioma NOT_TRANSLATED -HP:0410268 Splenic hemangioma NOT_TRANSLATED -HP:0410267 Bowel hemangioma NOT_TRANSLATED -HP:0410267 Intestinal hemangiomas NOT_TRANSLATED -HP:0410264 Airway hemangioma NOT_TRANSLATED -HP:0410278 Cyst of the pituitary gland NOT_TRANSLATED -HP:0410279 Atrophic pituitary NOT_TRANSLATED -HP:0410279 Pituitary gland atrophy NOT_TRANSLATED -HP:0410276 Midline supraumbilical raphe NOT_TRANSLATED -HP:0410275 Lumbar/sacral hemangioma NOT_TRANSLATED -HP:0410286 Positive blood Moban test NOT_TRANSLATED -HP:0410287 Chest hemangioma NOT_TRANSLATED -HP:0410282 Abnormal circulating amylase level NOT_TRANSLATED -HP:0410283 Positive blood paracetamol test NOT_TRANSLATED -HP:0410283 Positive blood Tylenol test NOT_TRANSLATED -HP:0410280 Onset before adulthood NOT_TRANSLATED -HP:0410280 Paediatric onset NOT_TRANSLATED -HP:0410281 Indigestion NOT_TRANSLATED -HP:0410292 Abnormal level of natural antibody to blood group agents NOT_TRANSLATED -HP:0410292 Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin) NOT_TRANSLATED -HP:0410293 Absent natural antibody to blood group agents NOT_TRANSLATED -HP:0410293 Complete or near-complete absence of isohemagglutinins NOT_TRANSLATED -HP:0410288 Increased circulating amylase level NOT_TRANSLATED -HP:0410289 Decreased circulating amylase level NOT_TRANSLATED -HP:0410310 Abnormality of neutrophil morphology in cerebrospinal fluid NOT_TRANSLATED -HP:0410311 Hyposegmentation of neutrophil nuclei in cerebrospinal fluid NOT_TRANSLATED -HP:0410309 2-aminoadipic aciduria NOT_TRANSLATED -HP:0410319 Allergy to alpha-gal NOT_TRANSLATED -HP:0410319 IgE-mediated alpha-gal allergy NOT_TRANSLATED -HP:0410319 Immunoglobulin E-mediated alpha-gal allergy NOT_TRANSLATED -HP:0410317 3-Methylhistidinuria NOT_TRANSLATED -HP:0410315 1-Methylhistidinuria NOT_TRANSLATED -HP:0410312 Hypersegmentation of neutrophil nuclei in cerebrospinal fluid NOT_TRANSLATED -HP:0410326 Allergy to feathers NOT_TRANSLATED -HP:0410326 IgE-mediated feather allergy NOT_TRANSLATED -HP:0410326 Immunoglobulin E-mediated feather allergy NOT_TRANSLATED -HP:0410327 Allergy to dairy NOT_TRANSLATED -HP:0410327 IgE-mediated dairy allergy NOT_TRANSLATED -HP:0410327 Immunoglobulin E-mediated dairy allergy NOT_TRANSLATED -HP:0410324 Allergy to dust mites NOT_TRANSLATED -HP:0410324 IgE-mediated dust mite allergy NOT_TRANSLATED -HP:0410324 Immunoglobulin E-mediated dust mite allergy NOT_TRANSLATED -HP:0410325 Allergy to house dust mites NOT_TRANSLATED -HP:0410325 IgE-mediated house dust mite allergy NOT_TRANSLATED -HP:0410325 Immunoglobulin E-mediated house dust mite allergy NOT_TRANSLATED -HP:0410322 Allergy to bacteria NOT_TRANSLATED -HP:0410322 IgE-mediated bacteria allergy NOT_TRANSLATED -HP:0410322 Immunoglobulin E-mediated bacteria allergy NOT_TRANSLATED -HP:0410323 Allergy to drugs NOT_TRANSLATED -HP:0410323 IgE-mediated drug allergy NOT_TRANSLATED -HP:0410323 Immunoglobulin E-mediated drug allergy NOT_TRANSLATED -HP:0410320 Allergy to animal proteins NOT_TRANSLATED -HP:0410320 IgE-mediated animal protein allergy NOT_TRANSLATED -HP:0410320 Immunoglobulin E-mediated animal protein allergy NOT_TRANSLATED -HP:0410321 Allergy to animal dander NOT_TRANSLATED -HP:0410321 IgE-mediated animal dander allergy NOT_TRANSLATED -HP:0410321 Immunoglobulin E-mediated animal dander allergy NOT_TRANSLATED -HP:0410334 Allergy to fungi NOT_TRANSLATED -HP:0410334 Fungal allergy NOT_TRANSLATED -HP:0410334 Fungus allergy NOT_TRANSLATED -HP:0410334 IgE-mediated fungi allergy NOT_TRANSLATED -HP:0410334 Immunoglobulin E-mediated fungi allergy NOT_TRANSLATED -HP:0410335 Allergy to insects NOT_TRANSLATED -HP:0410335 IgE-mediated insect allergy NOT_TRANSLATED -HP:0410335 Immunoglobulin E-mediated insect allergy NOT_TRANSLATED -HP:0410332 Allergy to plant based food allergens NOT_TRANSLATED -HP:0410332 IgE-mediated plant based food allergen allergy NOT_TRANSLATED -HP:0410332 Immunoglobulin E-mediated plant based food allergen allergy NOT_TRANSLATED -HP:0410333 Allergy to seafood NOT_TRANSLATED -HP:0410333 IgE-mediated seafood allergy NOT_TRANSLATED -HP:0410333 Immunoglobulin E-mediated seafood allergy NOT_TRANSLATED -HP:0410330 Allergy to meat allergens NOT_TRANSLATED -HP:0410330 IgE-mediated meat allergen allergy NOT_TRANSLATED -HP:0410330 Immunoglobulin E-mediated meat allergen allergy NOT_TRANSLATED -HP:0410330 Meat allergy NOT_TRANSLATED -HP:0410331 Allergy to nut food products NOT_TRANSLATED -HP:0410331 IgE-mediated nut food product allergy NOT_TRANSLATED -HP:0410331 Immunoglobulin E-mediated nut food product allergy NOT_TRANSLATED -HP:0410331 Nut allergy NOT_TRANSLATED -HP:0410328 Allergy to eggs NOT_TRANSLATED -HP:0410328 IgE-mediated egg allergy NOT_TRANSLATED -HP:0410328 Immunoglobulin E-mediated egg allergy NOT_TRANSLATED -HP:0410329 Allergy to gluten NOT_TRANSLATED -HP:0410329 IgE-mediated gluten allergy NOT_TRANSLATED -HP:0410329 Immunoglobulin E-mediated gluten allergy NOT_TRANSLATED -HP:0410342 Increased blood heparan sulfate concentration NOT_TRANSLATED -HP:0410342 Increased blood heparan sulphate concentration NOT_TRANSLATED -HP:0410342 Increased circulating heparan sulphate level NOT_TRANSLATED -HP:0410343 Decreased blood heparan sulfate concentration NOT_TRANSLATED -HP:0410343 Decreased blood heparan sulphate concentration NOT_TRANSLATED -HP:0410343 Decreased circulating heparan sulphate level NOT_TRANSLATED -HP:0410340 Focal epithelial hyperplasia of the lining of mouth NOT_TRANSLATED -HP:0410340 Oral mucosa epithelial hyperplasia NOT_TRANSLATED -HP:0410341 Abnormal circulating heparan sulphate level NOT_TRANSLATED -HP:0410341 Abnormality of the concentration of heparan sulfate in the blood NOT_TRANSLATED -HP:0410341 Abnormality of the concentration of heparan sulphate in the blood NOT_TRANSLATED -HP:0410338 Allergy to plant products NOT_TRANSLATED -HP:0410338 IgE-mediated plant product allergy NOT_TRANSLATED -HP:0410338 Immunoglobulin E-mediated plant product allergy NOT_TRANSLATED -HP:0410339 Allergy to insect bites NOT_TRANSLATED -HP:0410339 IgE-mediated insect bite allergy NOT_TRANSLATED -HP:0410339 Immunoglobulin E-mediated insect bite allergy NOT_TRANSLATED -HP:0410336 Allergy to venom NOT_TRANSLATED -HP:0410336 IgE-mediated venom allergy NOT_TRANSLATED -HP:0410336 Immunoglobulin E-mediated venom allergy NOT_TRANSLATED -HP:0410337 Allergy to parasites NOT_TRANSLATED -HP:0410337 IgE-mediated parasite allergy NOT_TRANSLATED -HP:0410337 Immunoglobulin E-mediated parasite allergy NOT_TRANSLATED -HP:0410350 Increased concentration of fucosylated oligosaccharides in urine NOT_TRANSLATED -HP:0410351 Abnormal concentration of complex N-glycans on glycoproteins NOT_TRANSLATED -HP:0410348 Increase concentration of multiantennary sialylated oligosaccharides in urine NOT_TRANSLATED -HP:0410346 Increased concentration of galactosylated oligosaccharides in urine NOT_TRANSLATED -HP:0410347 Increased concentration of high-mannose-type oligosaccharides in urine NOT_TRANSLATED -HP:0410344 Presence of terminal O-fucose glycans on properdin NOT_TRANSLATED -HP:0410345 Increased polyhexose concentration in urine NOT_TRANSLATED -HP:0410358 Decreased high-mannose N-glycans on glycoprotein concentration NOT_TRANSLATED -HP:0410359 Abnormal concentration of T-antigen NOT_TRANSLATED -HP:0410356 Abnormal high-mannose N-glycans on glycoprotein concentration NOT_TRANSLATED -HP:0410357 Increased high-mannose N-glycans on glycoprotein concentration NOT_TRANSLATED -HP:0410354 Increased concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED -HP:0410355 Decreased concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED -HP:0410352 Increased concentration of complex N-glycans on glycoproteins NOT_TRANSLATED -HP:0410353 Increased truncated complex N-glycans on glycoproteins NOT_TRANSLATED -HP:0410366 Increased globoside Gb4 concentration NOT_TRANSLATED -HP:0410364 Decreased sialyl T-antigen concentration NOT_TRANSLATED -HP:0410365 Increased disialyl T-antigen concentration NOT_TRANSLATED -HP:0410362 Reduced O-mannosyl glycans on alpha-dystroglycan NOT_TRANSLATED -HP:0410363 Increased sialyl T-antigen concentration NOT_TRANSLATED -HP:0410360 Increased T-antigen concentration NOT_TRANSLATED -HP:0410361 Decreased T-antigen concentration NOT_TRANSLATED -HP:0410375 Elevated proportion of naive CD4 T cells NOT_TRANSLATED -HP:0410375 Increased proportion of CD4+CD45RA+ cells NOT_TRANSLATED -HP:0410375 Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0410372 Increased O-GalNac on glycoprotein concentration NOT_TRANSLATED -HP:0410373 Abnormal proportion of CD4+CD45RA+ cells NOT_TRANSLATED -HP:0410373 Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0410368 Increased globoside Gb3 concentration NOT_TRANSLATED -HP:0410378 Decreased proportion of CD4+CD45RA+ cells NOT_TRANSLATED -HP:0410378 Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0410378 Reduced proportion of naive CD4 T cells NOT_TRANSLATED -HP:0410376 Elevated proportion of naive CD8 T cells NOT_TRANSLATED -HP:0410376 Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells NOT_TRANSLATED -HP:0410377 Reduced proportion of naive CD8 T cells NOT_TRANSLATED -HP:0410377 Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells NOT_TRANSLATED -HP:0410388 Decreased proportion of CD4+ central memory cells NOT_TRANSLATED -HP:0410388 Decreased proportion of CD4-positive central memory cells NOT_TRANSLATED -HP:0410388 Decreased proportion of central memory CD4+, alpha-beta T cell NOT_TRANSLATED -HP:0410388 Reduced proportion of CD4+ central memory cells NOT_TRANSLATED -HP:0410399 Increased blood lead level NOT_TRANSLATED -HP:0410397 Bronchiolectasia NOT_TRANSLATED -HP:0410393 Elevated proportion central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0410393 Elevated proportion of CD4+ central memory cells NOT_TRANSLATED -HP:0410393 Increased proportion of CD4+ central memory cells NOT_TRANSLATED -HP:0410393 Increased proportion of central memory CD4+, alpha-beta T cell NOT_TRANSLATED -HP:0410400 Absence of sebaceous glands NOT_TRANSLATED -HP:3000047 Abnormality of glossopharyngeal nerve NOT_TRANSLATED -HP:3000041 Abnormality of carotid artery NOT_TRANSLATED -HP:3000041 Disorder of carotid artery NOT_TRANSLATED -HP:3000040 Abnormality of ethmoidal air cells NOT_TRANSLATED -HP:3000043 Abnormal vein of face NOT_TRANSLATED -HP:3000043 Abnormality of facial vein NOT_TRANSLATED -HP:3000042 Abnormality of jugular vein NOT_TRANSLATED -HP:3000037 Abnormality of blood vessel of neck NOT_TRANSLATED -HP:3000037 Abnormality of neck blood vessel NOT_TRANSLATED -HP:3000037 Abnormality of the cervical blood vessels NOT_TRANSLATED -HP:3000037 Abnormality of the cervical vasculature NOT_TRANSLATED -HP:3000037 Abnormality of the vasculature of the neck NOT_TRANSLATED -HP:3000036 Abnormality of blood vessel of head NOT_TRANSLATED -HP:3000036 Abnormality of head blood vessel NOT_TRANSLATED -HP:3000036 Abnormality of vasculature of head NOT_TRANSLATED -HP:3000038 Abnormality of cricoid cartilage NOT_TRANSLATED -HP:3000033 Abnormality of adenoids NOT_TRANSLATED -HP:3000033 Abnormality of nasopharyngeal adenoids NOT_TRANSLATED -HP:3000033 Abnormality of nasopharyngeal tonsil NOT_TRANSLATED -HP:3000033 Abnormality of pharyngeal tonsil NOT_TRANSLATED -HP:3000034 Abnormality of cartilage of nasal septum NOT_TRANSLATED -HP:3000034 Abnormality of cartilage of septum of nose NOT_TRANSLATED -HP:3000034 Anomaly of cartilage of nasal septum NOT_TRANSLATED -HP:3000034 Deformity of cartilage of nasal septum NOT_TRANSLATED -HP:3000034 Malformation of cartilage of nasal septum NOT_TRANSLATED -HP:3000061 Abnormality of the infraorbital nerve NOT_TRANSLATED -HP:3000060 Abnormality of infraorbital artery NOT_TRANSLATED -HP:3000062 Abnormality of internal carotid artery NOT_TRANSLATED -HP:3000057 Abnormality of the inferior oblique muscle NOT_TRANSLATED -HP:3000056 Abnormality of the inferior labial artery NOT_TRANSLATED -HP:3000059 Abnormality of inferior thyroid vein NOT_TRANSLATED -HP:3000053 Abnormality of hypopharynx NOT_TRANSLATED -HP:3000053 Abnormality of lower pharynx NOT_TRANSLATED -HP:3000052 Abnormality of hyoid bone NOT_TRANSLATED -HP:3000049 Abnormality of greater palatine artery NOT_TRANSLATED -HP:3000051 Abnormality of hyoglossus muscle NOT_TRANSLATED -HP:3000050 Abnormality of hard tissues of teeth NOT_TRANSLATED -HP:3000050 Abnormality of odontoid tissue NOT_TRANSLATED -HP:3000050 Abnormality of tooth hard tissue NOT_TRANSLATED -HP:3000013 Abnormality of platysma NOT_TRANSLATED -HP:3000013 Abnormality of the platysma muscle NOT_TRANSLATED -HP:3000003 Abnormality of mandibular ramus NOT_TRANSLATED -HP:3000029 Abnormality of depressor labii inferioris muscle NOT_TRANSLATED -HP:3000030 Abnormality of bones of the orbit of the skull NOT_TRANSLATED -HP:3000030 Abnormality of bony orbit of skull NOT_TRANSLATED -HP:3000030 Abnormality of the bony eye socket NOT_TRANSLATED -HP:3000030 Abnormality of the orbital bones of skull NOT_TRANSLATED -HP:3000024 Abnormality of facial artery NOT_TRANSLATED -HP:3000021 Abnormality of buccal fat pad NOT_TRANSLATED -HP:3000019 Abnormality of buccal mucosa NOT_TRANSLATED -HP:3000019 Abnormality of cheek mucosa NOT_TRANSLATED -HP:3000019 Abnormality of inside lining of cheek NOT_TRANSLATED -HP:3000077 Abnormality of mandible condylar process NOT_TRANSLATED -HP:3000079 Abnormality of mandible symphysis NOT_TRANSLATED -HP:3000078 Abnormality of mandible coronoid process NOT_TRANSLATED -HP:3000075 Abnormality of lingual nerve NOT_TRANSLATED -HP:3000074 Abnormality of lingual artery NOT_TRANSLATED -HP:3000065 Abnormality of lacrimal artery NOT_TRANSLATED -HP:3000064 Abnormality of intrinsic lingual muscle NOT_TRANSLATED -HP:3000067 Abnormal anterior cricoarytenoid muscle morphology NOT_TRANSLATED -HP:3000067 Abnormality of lateral crico-arytenoid NOT_TRANSLATED -HP:3000067 Abnormality of lateral cricoarytenoid muscle NOT_TRANSLATED -HP:3000066 Abnormality of lacrimal sac NOT_TRANSLATED -HP:5000013 Anti-glial fibrillary acidic protein antibody NOT_TRANSLATED -HP:5000014 Anti-glycine receptor antibody NOT_TRANSLATED -HP:5000015 Anti-Homer protein homolog 3 antibody NOT_TRANSLATED -HP:5000008 Anti-fibroblast growth factor receptor 3 antibody NOT_TRANSLATED -HP:5000009 Anti-GABAA R antibody NOT_TRANSLATED -HP:5000009 Anti-gamma amino butyric acid type A receptors antibody NOT_TRANSLATED -HP:5000010 Anti-gamma-aminobutyric acid B receptor antibody NOT_TRANSLATED -HP:5000011 Anti-glutamic acid decarboxylase 65 antibody NOT_TRANSLATED -HP:5000004 Anti CARPVIII antibody NOT_TRANSLATED -HP:5000004 Anti-carbonic anhydrase-related protein VIII antibody NOT_TRANSLATED -HP:5000005 Anti-Caspr2 antibody NOT_TRANSLATED -HP:5000005 Anti-contactin-associated protein-like 2 antibody NOT_TRANSLATED -HP:5000006 Anti-collapsin response-mediated protein 5 antibody NOT_TRANSLATED -HP:5000006 Anti-CV2 antibody NOT_TRANSLATED -HP:5000006 Anti-CV2/collapsin response mediator protein (CRMP)5 antibody NOT_TRANSLATED -HP:5000007 Anti-dipeptidyl-peptidase-like protein 6 antibody NOT_TRANSLATED -HP:5000001 Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody NOT_TRANSLATED -HP:5000003 Anti-Ca antibody NOT_TRANSLATED -HP:5000003 Anti-RhoGTPase-activating protein 26 antibody NOT_TRANSLATED -HP:5000028 Anti-microtubule-associated protein 1B antibody NOT_TRANSLATED -HP:5000028 Anti-Purkinje cell cytoplasmic type-2 antibody NOT_TRANSLATED -HP:5000029 Anti-Protein kinase C gamma antibody NOT_TRANSLATED -HP:5000030 Anti-ANNA-2 antibody NOT_TRANSLATED -HP:5000024 Anti-metabotropic glutamate receptor 1 antibody NOT_TRANSLATED -HP:5000025 Anti-Metabotropic Glutamate Receptor Type 5 antibody NOT_TRANSLATED -HP:5000026 Anti-neurexin-3alpha antibody NOT_TRANSLATED -HP:5000027 Anti-P/Q-type voltage-gated calcium-channel antibody NOT_TRANSLATED -HP:5000020 Anti-Anti-leucine-rich glioma-inactivated 1 antibody NOT_TRANSLATED -HP:5000022 Anti-Ta antibody NOT_TRANSLATED -HP:5000016 Anti-ANNA-1 antibody NOT_TRANSLATED -HP:5000016 Anti-Neuronal Nuclear Antibody type-1 antibody NOT_TRANSLATED -HP:5000017 Anti-immunoglobulin-like cell adhesion molecule 5 antibody NOT_TRANSLATED -HP:5000018 Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody NOT_TRANSLATED -HP:5000019 Anti-KLHL11 antibody NOT_TRANSLATED -HP:5000044 Anti-glutamate kainate receptor subunit 2 antibody NOT_TRANSLATED -HP:5000046 Anti-low-density lipoprotein receptor-related protein 4 antibody NOT_TRANSLATED -HP:5000047 Anti-RyR antibody NOT_TRANSLATED -HP:5000042 Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody NOT_TRANSLATED -HP:5000043 Anti-dopamine-2 receptors (D2R) antibody NOT_TRANSLATED -HP:5000037 Anti-Purkinje cell cytoplasmic antibody 1 NOT_TRANSLATED -HP:5000033 Anti-Sry-like high mobility group box (SOX) 1 antibody NOT_TRANSLATED -HP:5000034 Anti-delta/notch-like epidermal growth factor-related receptor antibody NOT_TRANSLATED -HP:5000034 PCA-Tr NOT_TRANSLATED -HP:0020045 Convergent squint NOT_TRANSLATED -HP:0020045 Convergent strabismus NOT_TRANSLATED -HP:0020049 Divergent strabismus NOT_TRANSLATED -HP:0020050 Anti-GM-CSF antibody positivity NOT_TRANSLATED -HP:0020058 Abnormal RBC count NOT_TRANSLATED -HP:0020059 Increased RBC count NOT_TRANSLATED -HP:0020060 Decreased RBC count NOT_TRANSLATED -HP:0020061 Abnormal haemoglobin concentration NOT_TRANSLATED -HP:0020061 Abnormal Hb concentration NOT_TRANSLATED -HP:0020062 Decreased haemoglobin concentration NOT_TRANSLATED -HP:0020062 Decreased Hb concentration NOT_TRANSLATED -HP:0020063 Increased haemoglobin concentration NOT_TRANSLATED -HP:0020063 Increased Hb concentration NOT_TRANSLATED -HP:0020076 Ganglion cyst of the wrist NOT_TRANSLATED -HP:0020078 Increased urinary alanine NOT_TRANSLATED -HP:0020083 Boil NOT_TRANSLATED -HP:0020087 BCGiosis NOT_TRANSLATED -HP:0020087 Disseminated Bacillus Calmette-Guerin infection NOT_TRANSLATED -HP:0020088 Vaccine associated measles NOT_TRANSLATED -HP:0020111 Abnormal CD4+CD25+ Treg cell proportion NOT_TRANSLATED -HP:0020112 Elevated proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED -HP:0020112 Increased proportion of CD4+CD25+ Treg cells NOT_TRANSLATED -HP:0020113 Decreased proportion of CD4+CD25+ Treg cells NOT_TRANSLATED -HP:0020113 Reduced proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED -HP:0020119 Abnormal retinal nerve fibre layer morphology NOT_TRANSLATED -HP:0020120 Retinal nerve fibre oedema NOT_TRANSLATED -HP:0020122 Blister cells NOT_TRANSLATED -HP:0020122 Degmacytes NOT_TRANSLATED -HP:0020123 Tympanic calcification NOT_TRANSLATED -HP:0020125 Conjunctival avascular cysts (filtering blebs) NOT_TRANSLATED -HP:0020125 Spontaneous filtering bleb NOT_TRANSLATED -HP:0020130 Increased urinary NGAL NOT_TRANSLATED -HP:0020133 Glomerular visceral epithelial cell hypertrophy NOT_TRANSLATED -HP:0020133 Hypertrophy of visceral epithelial cells NOT_TRANSLATED -HP:0020141 Blood pressure substantially higher in lower than upper extremities NOT_TRANSLATED -HP:0020141 Blood pressure substantially lower in arms than legs NOT_TRANSLATED -HP:0020141 Blood pressure substantially lower in upper than lower extremities NOT_TRANSLATED -HP:0020142 Blood pressure substantially higher in upper than lower extremities NOT_TRANSLATED -HP:0020142 Increased arm-leg blood pressure gradient NOT_TRANSLATED -HP:0020150 Elevated urinary Tamm-Horsfall protein concentration NOT_TRANSLATED -HP:0020158 Increased circulating docosatetraenoate level NOT_TRANSLATED -HP:0020159 Reduce response to GnRH stimulation test NOT_TRANSLATED -HP:0020170 Elevated blood drug concentration NOT_TRANSLATED -HP:0020170 Elevated plasma drug concentration NOT_TRANSLATED -HP:0020170 Elevated serum drug concentrations NOT_TRANSLATED -HP:0020170 Increased plasma drug concentration NOT_TRANSLATED -HP:0020170 Increased serum drug concentration NOT_TRANSLATED -HP:0020171 Decreased plasma drug concentration NOT_TRANSLATED -HP:0020171 Decreased serum drug concentration NOT_TRANSLATED -HP:0020171 Reduced blood drug concentration NOT_TRANSLATED -HP:0020171 Reduced plasma drug concentration NOT_TRANSLATED -HP:0020171 Reduced serum drug concentrations NOT_TRANSLATED -HP:0020172 Adverse drug reaction NOT_TRANSLATED -HP:0020172 Drug-induced reaction NOT_TRANSLATED -HP:0020172 Drug-induced response NOT_TRANSLATED -HP:0020172 Toxic drug response NOT_TRANSLATED -HP:0020173 Decreased drug efficacy NOT_TRANSLATED -HP:0020174 Drug resistance NOT_TRANSLATED -HP:0020177 Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated NOT_TRANSLATED -HP:0020186 Multi-lobulated spleen NOT_TRANSLATED -HP:0020187 Pachygyria with cortical thickness > 10 mm NOT_TRANSLATED -HP:0020187 Pachygyria with cortical thickness above 10 mm NOT_TRANSLATED -HP:0020189 Occipital predomimant classic pachygyria NOT_TRANSLATED -HP:0020189 Pachygyria with cortical thickness over 10 mm posterior predominant NOT_TRANSLATED -HP:0020190 Pachygyria with cortical thickness > 10 mm perisylvian predominant NOT_TRANSLATED -HP:0020191 Pachygyria with cortical thickness > 10 mm anterior predominant NOT_TRANSLATED -HP:0020194 Alpha heavy chain disease NOT_TRANSLATED -HP:0020195 Gamma heavy-chain disease NOT_TRANSLATED -HP:0020197 Increased circulating arachidonate level NOT_TRANSLATED -HP:0020197 Increased circulating arachidonic acid level NOT_TRANSLATED -HP:0020204 Renal tubulointerstitial bacterial organisms NOT_TRANSLATED -HP:0020205 Renal tubulointerstitial fungal organisms NOT_TRANSLATED -HP:0020215 Cognition induced seizure NOT_TRANSLATED -HP:0020216 Photosensitive seizure NOT_TRANSLATED -HP:0020217 Focal motor aware seizure NOT_TRANSLATED -HP:0020220 Localised atonic seizure NOT_TRANSLATED -HP:0020220 Localised hypotonic seizure NOT_TRANSLATED -HP:0020220 Localized atonic seizure NOT_TRANSLATED -HP:0020220 Localized hypotonic seizure NOT_TRANSLATED -HP:0020220 Partial atonic seizure NOT_TRANSLATED -HP:0020220 Partial hypotonic seizure NOT_TRANSLATED -HP:0020220 Segmental atonic seizure NOT_TRANSLATED -HP:0020220 Segmental hypotonic seizure NOT_TRANSLATED -HP:0025004 Arthritis of the big toe NOT_TRANSLATED -HP:0025006 Abnormalities of the glomerular capillary wall NOT_TRANSLATED -HP:0025007 Ectopic macula NOT_TRANSLATED -HP:0025009 Forward directed upper incisors NOT_TRANSLATED -HP:0025009 Proclination of the upper incisors NOT_TRANSLATED -HP:0025009 Protruding upper incisors NOT_TRANSLATED -HP:0025013 Decerebrate posturing NOT_TRANSLATED -HP:0025021 Abnormal ESR NOT_TRANSLATED -HP:0025021 Abnormal Westergren sedimentation rate NOT_TRANSLATED -HP:0025022 Decreased ESR NOT_TRANSLATED -HP:0025022 Low ESR NOT_TRANSLATED -HP:0025023 Atresia of the rectum NOT_TRANSLATED -HP:0025025 Vestibular fistula NOT_TRANSLATED -HP:0025027 Cutaneous osteosis NOT_TRANSLATED -HP:0025027 Miliary osteoma NOT_TRANSLATED -HP:0025027 Osteomatosis NOT_TRANSLATED -HP:0025030 Degenerative enteric neuropathy NOT_TRANSLATED -HP:0025038 Testicular abscess NOT_TRANSLATED -HP:0025039 Basal ganglia oedema NOT_TRANSLATED -HP:0025039 Edema of the basal ganglia NOT_TRANSLATED -HP:0025039 Oedema of the basal ganglia NOT_TRANSLATED -HP:0025040 Edema of the thalamus NOT_TRANSLATED -HP:0025040 Oedema of the thalamus NOT_TRANSLATED -HP:0025040 Thalamic oedema NOT_TRANSLATED -HP:0025045 Abnormal lactate level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025046 Reduced brain lactate level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025047 Abnormal brain choline level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025048 Reduced brain choline level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025049 Abnormal brain creatine level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025050 Elevated brain creatine level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025051 Low brain creatine phosphate NOT_TRANSLATED -HP:0025051 Reduced brain creatine level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025052 Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025053 Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy NOT_TRANSLATED -HP:0025058 Atrophy of the hypothalamus NOT_TRANSLATED -HP:0025060 Multilocular splenic abscess NOT_TRANSLATED -HP:0025061 Solitary splenic abscess NOT_TRANSLATED -HP:0025061 Unilocular splenic abscess NOT_TRANSLATED -HP:0025062 Geophagy NOT_TRANSLATED -HP:0025064 Thalamic haemorrhage NOT_TRANSLATED -HP:0025065 Abnormal erythrocyte volume NOT_TRANSLATED -HP:0025065 Abnormal MCV NOT_TRANSLATED -HP:0025066 Decreased MCV NOT_TRANSLATED -HP:0025066 Microcytosis NOT_TRANSLATED -HP:0025066 Reduced erythrocyte volume NOT_TRANSLATED -HP:0025069 Comitant strabismus NOT_TRANSLATED -HP:0025072 Increased U wave amplitude NOT_TRANSLATED -HP:0025079 Pancreas abscess NOT_TRANSLATED -HP:0025082 Abnormal cutaneous elastic fibre morphology NOT_TRANSLATED -HP:0025084 Follicular pustule NOT_TRANSLATED -HP:0025085 Blood in stool NOT_TRANSLATED -HP:0025085 Bloody bowel movement NOT_TRANSLATED -HP:0025085 Bloody diarrhoea NOT_TRANSLATED -HP:0025085 Bloody stool NOT_TRANSLATED -HP:0025086 Bloody mucoid diarrhoea NOT_TRANSLATED -HP:0025089 Faecal vomiting NOT_TRANSLATED -HP:0025089 Fecal vomiting NOT_TRANSLATED -HP:0025089 Stercoraceous vomiting NOT_TRANSLATED -HP:0025089 Vomiting faecal matter NOT_TRANSLATED -HP:0025089 Vomiting fecal matter NOT_TRANSLATED -HP:0025092 Acanthosis NOT_TRANSLATED -HP:0025092 Acanthotic epidermis NOT_TRANSLATED -HP:0025092 Thickening of upper layer of skin NOT_TRANSLATED -HP:0025093 Peripapillary exudation NOT_TRANSLATED -HP:0025097 Blepharoclonus NOT_TRANSLATED -HP:0025097 Eyelid myoclonia NOT_TRANSLATED -HP:0025098 Hypothalamic dysgenesis NOT_TRANSLATED -HP:0025099 Thalamic dysgenesis NOT_TRANSLATED -HP:0025100 Abnormal morphology of the hippocampus NOT_TRANSLATED -HP:0025100 Abnormality of hippocampus morphology NOT_TRANSLATED -HP:0025101 Hippocampal dysgenesis NOT_TRANSLATED -HP:0025102 Basal ganglia dysgenesis NOT_TRANSLATED -HP:0025105 Naevus anaemicus NOT_TRANSLATED -HP:0025109 Reduced erythrocyte pyruvate kinase activity NOT_TRANSLATED -HP:0025112 Noise sensitivity NOT_TRANSLATED -HP:0025115 Colloid bodies NOT_TRANSLATED -HP:0025115 Colloid bodies of Civatte NOT_TRANSLATED -HP:0025115 Cytoid bodies NOT_TRANSLATED -HP:0025115 Hyaline bodies NOT_TRANSLATED -HP:0025116 Foetal distress NOT_TRANSLATED -HP:0025117 Flattened rete pegs NOT_TRANSLATED -HP:0025117 Flattened rete ridges NOT_TRANSLATED -HP:0025122 Sawtoothed acanthosis NOT_TRANSLATED -HP:0025124 Enamel with tendency to chip NOT_TRANSLATED -HP:0025124 Spontaneous tooth fracture NOT_TRANSLATED -HP:0025127 Solar keratosis NOT_TRANSLATED -HP:0025130 Lactase deficiency NOT_TRANSLATED -HP:0025131 Swelling of fingers NOT_TRANSLATED -HP:0025131 Swollen finger NOT_TRANSLATED -HP:0025131 Swollen fingers NOT_TRANSLATED -HP:0025132 Abnormal circulating oestrogen level NOT_TRANSLATED -HP:0025132 Abnormal estrogen level NOT_TRANSLATED -HP:0025132 Abnormal oestrogen level NOT_TRANSLATED -HP:0025134 Increased estradiol level NOT_TRANSLATED -HP:0025134 Increased serum oestradiol NOT_TRANSLATED -HP:0025141 Gingival calcifications NOT_TRANSLATED -HP:0025144 Shuddering NOT_TRANSLATED -HP:0025145 Rigours NOT_TRANSLATED -HP:0025147 Beaten metal macular appearance NOT_TRANSLATED -HP:0025147 Beaten-bronze macular appearance NOT_TRANSLATED -HP:0025147 Beaten-bronze macular sheen NOT_TRANSLATED -HP:0025149 Autonomic visceral myopathy NOT_TRANSLATED -HP:0025149 Degenerative enteric myopathy NOT_TRANSLATED -HP:0025152 Abnormal visual behavior for age NOT_TRANSLATED -HP:0025152 Abnormal visual behaviour for age NOT_TRANSLATED -HP:0025152 Poor visual behaviour for age NOT_TRANSLATED -HP:0025154 Collateral biliary circulation NOT_TRANSLATED -HP:0025154 Collateral biliary veins NOT_TRANSLATED -HP:0025156 Dependency on IV nutrition NOT_TRANSLATED -HP:0025159 Hypo-autofluorescent retinal lesion NOT_TRANSLATED -HP:0025164 Increased number of elastic fibres in the dermis NOT_TRANSLATED -HP:0025165 Clumping of elastic fibres in the dermis NOT_TRANSLATED -HP:0025166 Thickened elastic fibres in the dermis NOT_TRANSLATED -HP:0025167 Fragmented elastic fibres in the dermis NOT_TRANSLATED -HP:0025170 Glioneuronal tumor NOT_TRANSLATED -HP:0025170 Glioneuronal tumour NOT_TRANSLATED -HP:0025170 Neuronal and mixed neuronal-glial tumor NOT_TRANSLATED -HP:0025170 Neuronal and mixed neuronal-glial tumour NOT_TRANSLATED -HP:0025170 Neuronal/glioneuronal neoplasm of the CNS NOT_TRANSLATED -HP:0025171 Rosette-forming glioneuronal neoplasm NOT_TRANSLATED -HP:0025171 Rosette-forming glioneuronal tumor of the fourth ventricle NOT_TRANSLATED -HP:0025171 Rosette-forming glioneuronal tumour NOT_TRANSLATED -HP:0025171 Rosette-forming glioneuronal tumour of the fourth ventricle NOT_TRANSLATED -HP:0025175 Honeycomb cysts NOT_TRANSLATED -HP:0025175 Honeycombing NOT_TRANSLATED -HP:0025178 Subpleural scarring NOT_TRANSLATED -HP:0025179 GGO NOT_TRANSLATED -HP:0025179 Ground glass opacities NOT_TRANSLATED -HP:0025179 Ground-glass opacification on pulmonary HRCT NOT_TRANSLATED -HP:0025180 Centrilobular groundglass opacification NOT_TRANSLATED -HP:0025180 Centrilobular groundglass opacity NOT_TRANSLATED -HP:0025182 Localised area of pendulous skin NOT_TRANSLATED -HP:0025186 Marcus Gunn jaw-winking syndrome NOT_TRANSLATED -HP:0025186 Pterygoid-levator synkinesis NOT_TRANSLATED -HP:0025186 Trigemino-oculomotor synkinesis NOT_TRANSLATED -HP:0025190 Bilateral tonic-clonic seizure with generalised onset NOT_TRANSLATED -HP:0025190 Generalised tonic-clonic seizure without focal onset NOT_TRANSLATED -HP:0025190 Generalised tonic-clonic seizure without partial onset NOT_TRANSLATED -HP:0025190 Generalised tonic-clonic seizures without focal onset NOT_TRANSLATED -HP:0025190 Generalised-onset tonic-clonic seizure NOT_TRANSLATED -HP:0025190 Generalized tonic-clonic seizure without focal onset NOT_TRANSLATED -HP:0025190 Generalized tonic-clonic seizure without partial onset NOT_TRANSLATED -HP:0025190 Generalized tonic-clonic seizures without focal onset NOT_TRANSLATED -HP:0025190 Generalized-onset tonic-clonic seizure NOT_TRANSLATED -HP:0025190 Primarily generalised tonic-clonic seizures NOT_TRANSLATED -HP:0025190 Primarily generalized tonic-clonic seizures NOT_TRANSLATED -HP:0025190 Primary generalised tonic-clonic seizure NOT_TRANSLATED -HP:0025190 Primary generalised tonic-clonic seizures NOT_TRANSLATED -HP:0025190 Primary generalized tonic-clonic seizure NOT_TRANSLATED -HP:0025190 Primary generalized tonic-clonic seizures NOT_TRANSLATED -HP:0025193 Bochdalek hernia NOT_TRANSLATED -HP:0025194 Morgagni hernia NOT_TRANSLATED -HP:0025195 Central hernia NOT_TRANSLATED -HP:0025197 Digital fibrous tumor of Reye NOT_TRANSLATED -HP:0025197 Digital fibrous tumour of Reye NOT_TRANSLATED -HP:0025197 Infantile digital fibroma NOT_TRANSLATED -HP:0025197 Infantile digital fibromatosis NOT_TRANSLATED -HP:0025200 Muscle fibre actin filament accumulation NOT_TRANSLATED -HP:0025201 Abnormal apolipoprotein level NOT_TRANSLATED -HP:0025202 Elevated apolipoprotein A-IV level NOT_TRANSLATED -HP:0025203 Palm tree sign NOT_TRANSLATED -HP:0025205 Breastfeeding triggered symptoms NOT_TRANSLATED -HP:0025205 Triggered by breastfeeding NOT_TRANSLATED -HP:0025206 Cold triggered symptoms NOT_TRANSLATED -HP:0025206 Triggered by cold temperature NOT_TRANSLATED -HP:0025207 Dehydration triggered symptoms NOT_TRANSLATED -HP:0025208 Carbohydrate ingestion triggered symptoms NOT_TRANSLATED -HP:0025209 Trigged by fruit sugar NOT_TRANSLATED -HP:0025211 Ethanol ingestion triggered symptoms NOT_TRANSLATED -HP:0025211 Triggered by alcohol ingestion NOT_TRANSLATED -HP:0025212 Fasting triggered attacks NOT_TRANSLATED -HP:0025212 Fasting triggered symptoms NOT_TRANSLATED -HP:0025213 Triggered by ingestion of lactose-containing milk NOT_TRANSLATED -HP:0025214 Heat triggered symptoms NOT_TRANSLATED -HP:0025215 Febrile illness triggered symptoms NOT_TRANSLATED -HP:0025215 Triggered by fever NOT_TRANSLATED -HP:0025216 Heavy meal triggered symptoms NOT_TRANSLATED -HP:0025216 Triggered by overeating NOT_TRANSLATED -HP:0025217 High-fat diet triggered symptoms NOT_TRANSLATED -HP:0025218 Hyperventilation triggered symptoms NOT_TRANSLATED -HP:0025219 Triggered by immunisation NOT_TRANSLATED -HP:0025219 Triggered by immunization NOT_TRANSLATED -HP:0025219 Vaccination triggered symptoms NOT_TRANSLATED -HP:0025220 Menstruation triggered symptoms NOT_TRANSLATED -HP:0025220 Triggered by monthly period NOT_TRANSLATED -HP:0025220 Triggered by period NOT_TRANSLATED -HP:0025221 Pregnancy triggered symptoms NOT_TRANSLATED -HP:0025222 Sleep deprivation triggered symptoms NOT_TRANSLATED -HP:0025223 Smoking triggered symptoms NOT_TRANSLATED -HP:0025223 Triggered by cigarette consumption NOT_TRANSLATED -HP:0025223 Triggered by tobacco use NOT_TRANSLATED -HP:0025224 Sodium ingestion triggered symptoms NOT_TRANSLATED -HP:0025224 Sodium intake triggered attacks NOT_TRANSLATED -HP:0025224 Triggered by Na ingestion NOT_TRANSLATED -HP:0025224 Triggered by Na+ ingestion NOT_TRANSLATED -HP:0025224 Triggered by salt ingestion NOT_TRANSLATED -HP:0025224 Triggered by sodium intake NOT_TRANSLATED -HP:0025225 Sound triggered symptoms NOT_TRANSLATED -HP:0025226 Stress triggered symptoms NOT_TRANSLATED -HP:0025227 Excitement triggered symptoms NOT_TRANSLATED -HP:0025227 Triggered by startle NOT_TRANSLATED -HP:0025228 Kinesigenic NOT_TRANSLATED -HP:0025228 Sudden movement triggered symptoms NOT_TRANSLATED -HP:0025229 Vestibular stimulation triggered attacks NOT_TRANSLATED -HP:0025229 Vestibular stimulation triggered symptoms NOT_TRANSLATED -HP:0025230 Teninitis NOT_TRANSLATED -HP:0025231 Abnormality of synovial bursa morphology NOT_TRANSLATED -HP:0025235 NREM parasomnia NOT_TRANSLATED -HP:0025236 Sleep walking NOT_TRANSLATED -HP:0025239 Subhyaloid haemorrhage NOT_TRANSLATED -HP:0025239 Subhyaloid heme NOT_TRANSLATED -HP:0025240 Preretinal haemorrhage NOT_TRANSLATED -HP:0025240 Preretinal heme NOT_TRANSLATED -HP:0025241 Feathered retinal heme NOT_TRANSLATED -HP:0025241 Flame-shaped retinal haemorrhage NOT_TRANSLATED -HP:0025241 Linear retina heme NOT_TRANSLATED -HP:0025242 Dot-and-blot retinal haemorrhage NOT_TRANSLATED -HP:0025242 Round retinal heme NOT_TRANSLATED -HP:0025243 Subretinal haemorrhage NOT_TRANSLATED -HP:0025243 Subretinal heme NOT_TRANSLATED -HP:0025244 Subretinal pigment epithelium haemorrhage NOT_TRANSLATED -HP:0025246 Pilar cyst NOT_TRANSLATED -HP:0025250 Whitehead NOT_TRANSLATED -HP:0025251 Blackhead NOT_TRANSLATED -HP:0025252 Annulus migrans NOT_TRANSLATED -HP:0025252 Benign migratory glossitis NOT_TRANSLATED -HP:0025252 Glossitis areata exfoliativa NOT_TRANSLATED -HP:0025252 Lingual erythema migrans NOT_TRANSLATED -HP:0025252 Wandering rash of the tongue NOT_TRANSLATED -HP:0025254 Improved by NOT_TRANSLATED -HP:0025255 Pregnancy relieves symptoms NOT_TRANSLATED -HP:0025256 Fever improves condition NOT_TRANSLATED -HP:0025256 Heat improves condition NOT_TRANSLATED -HP:0025256 Heat improves symptom NOT_TRANSLATED -HP:0025258 Neck stiffness NOT_TRANSLATED -HP:0025259 Elbow stiffness NOT_TRANSLATED -HP:0025260 Wrist stiffness NOT_TRANSLATED -HP:0025261 Finger stiffness NOT_TRANSLATED -HP:0025262 Hip stiffness NOT_TRANSLATED -HP:0025263 Knee stiffness NOT_TRANSLATED -HP:0025264 Ankle stiffness NOT_TRANSLATED -HP:0025265 Toe stiffness NOT_TRANSLATED -HP:0025267 Snore NOT_TRANSLATED -HP:0025267 Snores NOT_TRANSLATED -HP:0025267 Snoring symptoms NOT_TRANSLATED -HP:0025268 Stammering NOT_TRANSLATED -HP:0025270 Abnormality of esophagus physiology NOT_TRANSLATED -HP:0025270 Abnormality of oesophagus physiology NOT_TRANSLATED -HP:0025270 Functional abnormality of the esophagus NOT_TRANSLATED -HP:0025270 Functional abnormality of the oesophagus NOT_TRANSLATED -HP:0025272 Chloasma NOT_TRANSLATED -HP:0025272 Facial melanosis NOT_TRANSLATED -HP:0025274 Mature cystic ovarian teratoma NOT_TRANSLATED -HP:0025282 Dull pain NOT_TRANSLATED -HP:0025285 Exacerbated by NOT_TRANSLATED -HP:0025286 Aggravated by exercise NOT_TRANSLATED -HP:0025286 Aggravated by exertion NOT_TRANSLATED -HP:0025286 Worse with activity NOT_TRANSLATED -HP:0025286 Worsened by activity NOT_TRANSLATED -HP:0025289 Swollen lymph nodes in the neck NOT_TRANSLATED -HP:0025294 Radicular NOT_TRANSLATED -HP:0025300 Butterfly rash NOT_TRANSLATED -HP:0025300 Cheekbone rash NOT_TRANSLATED -HP:0025303 Now and then NOT_TRANSLATED -HP:0025304 Cyclic NOT_TRANSLATED -HP:0025304 Cyclical NOT_TRANSLATED -HP:0025309 Irregular pupil NOT_TRANSLATED -HP:0025318 Ovarian epithelial cancer NOT_TRANSLATED -HP:0025320 Fluorescein leakage NOT_TRANSLATED -HP:0025321 Liver copper accumulation NOT_TRANSLATED -HP:0025325 Medial thinning of eyebrow NOT_TRANSLATED -HP:0025326 Retinal artery occlusion NOT_TRANSLATED -HP:0025328 Antepartum haemorrhage NOT_TRANSLATED -HP:0025328 Prepartum haemorrhage NOT_TRANSLATED -HP:0025328 Prepartum hemorrhage NOT_TRANSLATED -HP:0025329 Anti-GAD antibody positivity NOT_TRANSLATED -HP:0025330 Downgaze paresis NOT_TRANSLATED -HP:0025330 Supranuclear downgaze palsy NOT_TRANSLATED -HP:0025331 Supranuclear upgaze palsy NOT_TRANSLATED -HP:0025331 Upgaze paresis NOT_TRANSLATED -HP:0025332 Abnormality of the cortex of foot bones NOT_TRANSLATED -HP:0025334 Emotion triggered symptoms NOT_TRANSLATED -HP:0025337 Red eyes NOT_TRANSLATED -HP:0025338 Ciliary limbus NOT_TRANSLATED -HP:0025338 Circumlimbal hyperaemia NOT_TRANSLATED -HP:0025339 Superficial episcleral hypaeremia NOT_TRANSLATED -HP:0025340 Deep episcleral hyperaemia NOT_TRANSLATED -HP:0025345 Abnormality of circulating B2M level NOT_TRANSLATED -HP:0025345 Abnormality of circulating beta2 microglobulin level NOT_TRANSLATED -HP:0025345 Abnormality of circulating beta2-m level NOT_TRANSLATED -HP:0025345 Abnormality of circulating beta2m level NOT_TRANSLATED -HP:0025346 Elevated circulating beta-2-microglobulin level NOT_TRANSLATED -HP:0025347 Reduced circulating beta-2-microglobulin level NOT_TRANSLATED -HP:0025348 Abnormality of the corneal limbus NOT_TRANSLATED -HP:0025349 Limbal oedema NOT_TRANSLATED -HP:0025351 Recurrent interdigital tinea NOT_TRANSLATED -HP:0025352 Autosomal dominant germline de novo mutation NOT_TRANSLATED -HP:0025353 Anti-MND antibodies NOT_TRANSLATED -HP:0025357 Fragmentary myoclonus NOT_TRANSLATED -HP:0025358 Ectropion uveae NOT_TRANSLATED -HP:0025359 Polygonal calices NOT_TRANSLATED -HP:0025359 Polygonal-shaped calices NOT_TRANSLATED -HP:0025362 Hypoplasia of the medullary pyramids NOT_TRANSLATED -HP:0025363 Endocapillary hypercellularity NOT_TRANSLATED -HP:0025364 Extracapillary glomerular hypercellularity NOT_TRANSLATED -HP:0025364 Extracapillary hypercellularity NOT_TRANSLATED -HP:0025368 Abnormality of growth plate morphology NOT_TRANSLATED -HP:0025372 Has loud snoring NOT_TRANSLATED -HP:0025372 Have loud snoring NOT_TRANSLATED -HP:0025372 Heavy snoring NOT_TRANSLATED -HP:0025372 Snores loudly NOT_TRANSLATED -HP:0025376 Glutamine high in urine NOT_TRANSLATED -HP:0025376 Glutaminuria NOT_TRANSLATED -HP:0025377 Exertion triggered symptoms NOT_TRANSLATED -HP:0025377 Triggered by physical exercise NOT_TRANSLATED -HP:0025379 Anti-TPO antibody positivity NOT_TRANSLATED -HP:0025379 TPOAbs NOT_TRANSLATED -HP:0025380 Increased serum androstenedione NOT_TRANSLATED -HP:0025383 Buffalo hump NOT_TRANSLATED -HP:0025387 Pill rolling NOT_TRANSLATED -HP:0025389 Pulmonary interstitiatial HRCT abnormality NOT_TRANSLATED -HP:0025391 Crazy paving pattern on pulmonary HRCT NOT_TRANSLATED -HP:0025391 Crazy-paving pattern NOT_TRANSLATED -HP:0025396 Black lung pattern on pulmonary HRCT NOT_TRANSLATED -HP:0025401 Staring eyes NOT_TRANSLATED -HP:0025405 Instability of ocular fixation NOT_TRANSLATED -HP:0025406 Lack of energy and strength NOT_TRANSLATED -HP:0025406 Prostration NOT_TRANSLATED -HP:0025406 Weakness NOT_TRANSLATED -HP:0025407 Urethrorectal fistula NOT_TRANSLATED -HP:0025408 Splenic lesion NOT_TRANSLATED -HP:0025418 Necrosis of the kidney cortex NOT_TRANSLATED -HP:0025419 Pulmonary pneumatocoele NOT_TRANSLATED -HP:0025420 Diffuse alveolar haemorrhage NOT_TRANSLATED -HP:0025426 Abnormality of the bronchi NOT_TRANSLATED -HP:0025434 Reduced CH50 NOT_TRANSLATED -HP:0025435 Increased lactate dehydrogenase level NOT_TRANSLATED -HP:0025436 Elevated serum 21-hydroxyprogesterone NOT_TRANSLATED -HP:0025436 Elevated serum deoxycorticosterone NOT_TRANSLATED -HP:0025441 Calcification of the Achilles tendon NOT_TRANSLATED -HP:0025444 Decrease in amygdala volume NOT_TRANSLATED -HP:0025448 Anteriorly displaced papillary muscles NOT_TRANSLATED -HP:0025449 Apically displaced papillary muscles NOT_TRANSLATED -HP:0025451 Testicular adrenal rest tumour NOT_TRANSLATED -HP:0025454 Abnormal cerebrospinal fluid metabolite concentration NOT_TRANSLATED -HP:0025454 Abnormal CSF metabolite level NOT_TRANSLATED -HP:0025455 Decreased CSF 5-HIAA NOT_TRANSLATED -HP:0025455 Low CSF 5-HIAA NOT_TRANSLATED -HP:0025455 Low CSF 5-hydroxyindolacetic acid NOT_TRANSLATED -HP:0025456 Abnormal CSF protein level NOT_TRANSLATED -HP:0025457 Decreased cerebrospinal fluid total protein NOT_TRANSLATED -HP:0025457 Decreased CSF protein NOT_TRANSLATED -HP:0025457 Hypoproteinorrhachia NOT_TRANSLATED -HP:0025457 Low CSF total protein NOT_TRANSLATED -HP:0025458 Low CSF albumin NOT_TRANSLATED -HP:0025460 High myo-inositol in brain by MRS NOT_TRANSLATED -HP:0025464 Increased ROS production NOT_TRANSLATED -HP:0025464 Oxidative stress NOT_TRANSLATED -HP:0025474 Violaceous plaque NOT_TRANSLATED -HP:0025478 Silent atrium NOT_TRANSLATED -HP:0025490 Intramyocardial coronary artery course NOT_TRANSLATED -HP:0025497 Coronary artery vasospasm NOT_TRANSLATED -HP:0025498 Aceruloplasminaemia NOT_TRANSLATED -HP:0025499 Obesity grade 1 NOT_TRANSLATED -HP:0025500 Obesity grade 2 NOT_TRANSLATED -HP:0025501 Obesity grade 3 NOT_TRANSLATED -HP:0025506 Anomalous coronary artery with aortic origin and course between the great arteries NOT_TRANSLATED -HP:0025507 Yellow-orange papule NOT_TRANSLATED -HP:0025508 Gottron papules NOT_TRANSLATED -HP:0025510 Speckled lentiginous Nevus NOT_TRANSLATED -HP:0025512 Flesh-colored papule NOT_TRANSLATED -HP:0025514 Morning glory disc anomaly NOT_TRANSLATED -HP:0025514 Morning glory optic disc NOT_TRANSLATED -HP:0025517 Small hippocampus NOT_TRANSLATED -HP:0025517 Underdeveloped hippocampus NOT_TRANSLATED -HP:0025519 Biliary hamartoma NOT_TRANSLATED -HP:0025519 Multiple bile duct hamartomas NOT_TRANSLATED -HP:0025519 Von Meyenburg complexes NOT_TRANSLATED -HP:0025520 Cutaneous calcification NOT_TRANSLATED -HP:0025524 Palmoplantar psoriasis NOT_TRANSLATED -HP:0025526 Erythemato-squamous plaque NOT_TRANSLATED -HP:0025526 Erythematosquamous plaque NOT_TRANSLATED -HP:0025526 Psoriatic-like lesion NOT_TRANSLATED -HP:0025527 Serpiginous eruption NOT_TRANSLATED -HP:0025530 Xanthoma palmare striatum NOT_TRANSLATED -HP:0025530 Xanthoma striatum palmare NOT_TRANSLATED -HP:0025534 Melanosis oculi NOT_TRANSLATED -HP:0025534 Ocular melanosis NOT_TRANSLATED -HP:0025537 Plantar oedema NOT_TRANSLATED -HP:0025538 Palmar oedema NOT_TRANSLATED -HP:0025546 Abnormal MCH NOT_TRANSLATED -HP:0025546 Abnormal MCHC NOT_TRANSLATED -HP:0025546 Abnormal mean corpuscular haemoglobin NOT_TRANSLATED -HP:0025546 Abnormal mean corpuscular haemoglobin concentration NOT_TRANSLATED -HP:0025546 Abnormal mean corpuscular Hb concentration NOT_TRANSLATED -HP:0025547 Decreased MCH NOT_TRANSLATED -HP:0025547 Decreased MCHC NOT_TRANSLATED -HP:0025547 Decreased mean corpuscular haemoglobin NOT_TRANSLATED -HP:0025547 Decreased mean corpuscular haemoglobin concentration NOT_TRANSLATED -HP:0025547 Decreased mean corpuscular Hb concentration NOT_TRANSLATED -HP:0025548 Increased MCH NOT_TRANSLATED -HP:0025548 Increased MCHC NOT_TRANSLATED -HP:0025548 Increased mean corpuscular haemoglobin NOT_TRANSLATED -HP:0025548 Increased mean corpuscular haemoglobin concentration NOT_TRANSLATED -HP:0025548 Increased mean corpuscular Hb concentration NOT_TRANSLATED -HP:0025549 Eccentric fixation NOT_TRANSLATED -HP:0025550 Increased level of ribitol in serum NOT_TRANSLATED -HP:0025551 Optic pathway misrouting NOT_TRANSLATED -HP:0025551 Visual pathway misrouting NOT_TRANSLATED -HP:0025553 Raccoon eyes NOT_TRANSLATED -HP:0025570 Choroidal hyperpermeability NOT_TRANSLATED -HP:0025572 Lacrimal punctum stenosis NOT_TRANSLATED -HP:0025572 Stenosis of the lacrimal punctum NOT_TRANSLATED -HP:0025574 Macular haemorrhage NOT_TRANSLATED -HP:0025581 Foveal haemorrhage NOT_TRANSLATED -HP:0025582 Sub-macular haemorrhage NOT_TRANSLATED -HP:0025582 Sub-macular hemorrhage NOT_TRANSLATED -HP:0025582 Submacular haemorrhage NOT_TRANSLATED -HP:0025592 Superior oblique palsy NOT_TRANSLATED -HP:0025595 Under-depression in adduction NOT_TRANSLATED -HP:0025598 Inferior oblique palsy NOT_TRANSLATED -HP:0025605 Eyelid lag NOT_TRANSLATED -HP:0025605 Lid lag NOT_TRANSLATED -HP:0025605 von Graefe sign NOT_TRANSLATED -HP:0025610 Meibomian gland disease NOT_TRANSLATED -HP:0025610 Meibomian gland dysfunction NOT_TRANSLATED -HP:0025613 Affective seizure NOT_TRANSLATED -HP:0025613 Emotional seizure NOT_TRANSLATED -HP:0025613 Focal affective seizure NOT_TRANSLATED -HP:0025613 Partial emotional seizure NOT_TRANSLATED -HP:0025620 Abnormal proportion of central memory CD4+, alpha-beta T cells NOT_TRANSLATED -HP:0025623 Abnormal proportion of CD4-positive effector memory cells NOT_TRANSLATED -HP:0025623 Abnormal proportion of effector memory CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0025624 Decreased proportion of CD4+ effector memory T cells NOT_TRANSLATED -HP:0025624 Decreased proportion of CD4-positive effector memory T cells NOT_TRANSLATED -HP:0025624 Decreased proportion of effector memory CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0025625 Increased proportion of CD4+ effector memory T cells NOT_TRANSLATED -HP:0025625 Increased proportion of CD4-positive effector memory T cells NOT_TRANSLATED -HP:0025625 Increased proportion of effector CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0025635 Polyp of the ureter NOT_TRANSLATED -HP:0025635 Ureter polyp NOT_TRANSLATED -HP:0025636 Endometrial inflammation NOT_TRANSLATED -HP:0025636 Inflammation of the inner lining of the uterus NOT_TRANSLATED -HP:0025637 Angiospasm NOT_TRANSLATED -HP:0025637 Blood vessel spasm NOT_TRANSLATED -HP:0025637 Vascular spasm NOT_TRANSLATED -HP:0025643 Perineural cyst NOT_TRANSLATED -HP:0025644 Fixation-off sensitivity NOT_TRANSLATED -HP:0025647 SSNS NOT_TRANSLATED -HP:0025650 SDNS NOT_TRANSLATED -HP:0025653 Abnormal placental pentration beyond the uterine wall NOT_TRANSLATED -HP:0025660 Arnold-Chiari type II malformation NOT_TRANSLATED -HP:0025661 Arnold-Chiari type III malformation NOT_TRANSLATED -HP:0025673 Septated ascites NOT_TRANSLATED -HP:0025675 Fetal arterial duct narrowing-closure NOT_TRANSLATED -HP:0025675 Fetal ductus arteriosus narrowing-closure NOT_TRANSLATED -HP:0025675 Fetal PAD narrowing-closure NOT_TRANSLATED -HP:0025675 Fetal PDA narrowing-closure NOT_TRANSLATED -HP:0025675 Idiopathic constriction of the fetal ductus arteriosus NOT_TRANSLATED -HP:0025675 PCDA NOT_TRANSLATED -HP:0025679 Discitis NOT_TRANSLATED -HP:0025680 CMAP facilitation NOT_TRANSLATED -HP:0025686 Abnormal Abeta 40 level NOT_TRANSLATED -HP:0025686 Abnormal beta amyloid 40 level NOT_TRANSLATED -HP:0025690 Fetal umbilical vein dilatation NOT_TRANSLATED -HP:0025690 FIUVV NOT_TRANSLATED -HP:0025693 Pituitary gland macroadenoma NOT_TRANSLATED -HP:0025697 Cellular airway casts NOT_TRANSLATED -HP:0025697 Diphtheroid membranes NOT_TRANSLATED -HP:0025697 Pseudomembranes NOT_TRANSLATED -HP:0025697 Type I airway casts NOT_TRANSLATED -HP:0025698 Acellular airway casts NOT_TRANSLATED -HP:0025698 Type II airway casts NOT_TRANSLATED -HP:0025699 Perisylvian hypermetabolism in FDG PET NOT_TRANSLATED -HP:0025702 Trans-mantle schizencephaly NOT_TRANSLATED -HP:0025706 Absence of fetal nasal bone NOT_TRANSLATED -HP:0025706 Unossified nasal bone NOT_TRANSLATED -HP:0025711 Convergence retraction nystagmus NOT_TRANSLATED -HP:0025712 Amnion-chorion separation NOT_TRANSLATED -HP:0025713 Dystrophic neurite NOT_TRANSLATED -HP:0025717 Autophagic material in muscle biopsy NOT_TRANSLATED -HP:0025718 Hyperechoic muscle NOT_TRANSLATED -HP:0025718 Muscle ultrasound hyperechogenicity NOT_TRANSLATED -HP:0025724 Greasy, thick vernix caseosa-like scale NOT_TRANSLATED -HP:0550004 Flat wart NOT_TRANSLATED -HP:0550005 Lung disease with systemic sclerosis NOT_TRANSLATED -HP:0550005 Scleroderma lung disease NOT_TRANSLATED -HP:0550005 Scleroderma of lung NOT_TRANSLATED -HP:0025730 Fetal atrial septal dilatation NOT_TRANSLATED -HP:0025730 Redundant septum primum flap NOT_TRANSLATED -HP:0030001 Eyelids stay open NOT_TRANSLATED -HP:0030001 Inability to close the eyelids NOT_TRANSLATED -HP:0030002 Eyelids stay open at night NOT_TRANSLATED -HP:0030002 Inability to close the eyelids at night NOT_TRANSLATED -HP:0030004 Eyelids stay open due to scarring NOT_TRANSLATED -HP:0030004 Inability to close the eyelids due to scarring NOT_TRANSLATED -HP:0030005 Increased capillary permeability NOT_TRANSLATED -HP:0030005 Systemic capillary leak syndrome NOT_TRANSLATED -HP:0030006 Single fibre EMG abnormality NOT_TRANSLATED -HP:0030008 Absent cervix NOT_TRANSLATED -HP:0030008 Aplasia of the cervix NOT_TRANSLATED -HP:0030008 Cervical aplasia NOT_TRANSLATED -HP:0030009 Incompetent cervix NOT_TRANSLATED -HP:0030012 Abnormal female genital system physiology NOT_TRANSLATED -HP:0030015 Female orgasmic disorder NOT_TRANSLATED -HP:0030017 Myalgia of pelvic floor NOT_TRANSLATED -HP:0030017 Pelvic floor myalgia NOT_TRANSLATED -HP:0030018 Decreased female sex drive NOT_TRANSLATED -HP:0030019 Increased female sex drive NOT_TRANSLATED -HP:0030022 Constricted ear NOT_TRANSLATED -HP:0030022 Cosman ear NOT_TRANSLATED -HP:0030022 Question mark ears NOT_TRANSLATED -HP:0030024 Accessory Tragus NOT_TRANSLATED -HP:0030024 Extra cartilage in front of the ear NOT_TRANSLATED -HP:0030024 Pretragal Duplication NOT_TRANSLATED -HP:0030027 Abnormality of cartilage of nose NOT_TRANSLATED -HP:0030027 Abnormality of the nasal cartilage NOT_TRANSLATED -HP:0030027 Anomaly of cartilage of nose NOT_TRANSLATED -HP:0030027 Anomaly of nasal cartilage NOT_TRANSLATED -HP:0030027 Deformity of cartilage of nose NOT_TRANSLATED -HP:0030027 Deformity of nasal cartilage NOT_TRANSLATED -HP:0030027 Malformation of cartilage of nose NOT_TRANSLATED -HP:0030027 Malformation of nasal cartilage NOT_TRANSLATED -HP:0030028 Absent cartilage of nose NOT_TRANSLATED -HP:0030028 Agenesis of cartilage of nose NOT_TRANSLATED -HP:0030028 Agenesis of nasal cartilage NOT_TRANSLATED -HP:0030028 Failure of development of cartilage of nose NOT_TRANSLATED -HP:0030028 Failure of development of nasal cartilage NOT_TRANSLATED -HP:0030028 Missing cartilage of nose NOT_TRANSLATED -HP:0030028 Missing nasal cartilage NOT_TRANSLATED -HP:0030029 Spreading of the fingers NOT_TRANSLATED -HP:0030034 Lamellated/basket-woven thickened glomerular basement membranes NOT_TRANSLATED -HP:0030034 Lamellation of the glomerular basement membrane NOT_TRANSLATED -HP:0030035 Struvite kidney stones NOT_TRANSLATED -HP:0030041 Schmorl's nodes NOT_TRANSLATED -HP:0030042 Incomplete maturation of the pubic bone NOT_TRANSLATED -HP:0030043 Partial hip dislocation NOT_TRANSLATED -HP:0030043 Subluxation involving the hip joint NOT_TRANSLATED -HP:0030045 S-shaped calf bone NOT_TRANSLATED -HP:0030047 Abnormality of lateral ventricle NOT_TRANSLATED -HP:0030051 Tiptoe gait NOT_TRANSLATED -HP:0030051 Toe walking NOT_TRANSLATED -HP:0030051 Walking on tiptoes NOT_TRANSLATED -HP:0030052 Freckles in groin region NOT_TRANSLATED -HP:0030053 Indurated skin NOT_TRANSLATED -HP:0030065 Primitive neuroectodermal tumour NOT_TRANSLATED -HP:0030069 Primary CNS lymphoma NOT_TRANSLATED -HP:0030070 Central primitive neuroectodermal tumour NOT_TRANSLATED -HP:0030072 Neoplasm of the paranasal sinuses NOT_TRANSLATED -HP:0030072 Tumor of the paranasal sinuses NOT_TRANSLATED -HP:0030072 Tumour of the paranasal sinuses NOT_TRANSLATED -HP:0030074 Chemodectomas NOT_TRANSLATED -HP:0030082 Abnormal drinking behaviour NOT_TRANSLATED -HP:0030084 Curvature of digit NOT_TRANSLATED -HP:0030084 Permanent curving of the finger NOT_TRANSLATED -HP:0030085 Abnormal CSF lactate level NOT_TRANSLATED -HP:0030086 Hypolactatorachia NOT_TRANSLATED -HP:0030087 Abnormal serum testosterone level NOT_TRANSLATED -HP:0030087 Abnormal testosterone level NOT_TRANSLATED -HP:0030088 High serum testosterone level NOT_TRANSLATED -HP:0030088 High serum testosterone levels NOT_TRANSLATED -HP:0030088 Increased serum testosterone levels NOT_TRANSLATED -HP:0030088 Increased testosterone NOT_TRANSLATED -HP:0030089 Abnormal muscle fibre protein expression NOT_TRANSLATED -HP:0030090 Abnormal muscle fibre merosin expression NOT_TRANSLATED -HP:0030091 Absent merosin staining in muscle biopsy NOT_TRANSLATED -HP:0030091 Absent muscle fiber laminin alpha 2 NOT_TRANSLATED -HP:0030091 Absent muscle fibre laminin alpha 2 NOT_TRANSLATED -HP:0030091 Absent muscle fibre merosin NOT_TRANSLATED -HP:0030092 Reduced muscle fibre merosin NOT_TRANSLATED -HP:0030093 Abnormal muscle fibre laminin beta 1 NOT_TRANSLATED -HP:0030094 Reduced muscle fibre laminin beta 1 NOT_TRANSLATED -HP:0030095 Reduced collagen 6 in muscle NOT_TRANSLATED -HP:0030096 Abnormal muscle fibre dystrophin expression NOT_TRANSLATED -HP:0030098 Reduced dystrophin staining in muscle NOT_TRANSLATED -HP:0030099 Reduced muscle fibre alpha dystroglycan NOT_TRANSLATED -HP:0030100 Abnormal muscle fibre alpha sarcoglycan NOT_TRANSLATED -HP:0030101 Absent muscle fibre alpha sarcoglycan NOT_TRANSLATED -HP:0030102 Reduced muscle fibre alpha sarcoglycan NOT_TRANSLATED -HP:0030103 Abnormal muscle fibre beta sarcoglycan NOT_TRANSLATED -HP:0030104 Abnormal muscle fibre gamma sarcoglycan NOT_TRANSLATED -HP:0030105 Abnormal muscle fibre delta sarcoglycan NOT_TRANSLATED -HP:0030106 Absent muscle fibre beta sarcoglycan NOT_TRANSLATED -HP:0030107 Reduced muscle fibre beta sarcoglycan NOT_TRANSLATED -HP:0030108 Reduced muscle fibre gamma sarcoglycan NOT_TRANSLATED -HP:0030109 Absent muscle fibre gamma sarcoglycan NOT_TRANSLATED -HP:0030110 Absent muscle fibre delta sarcoglycan NOT_TRANSLATED -HP:0030111 Reduced muscle fibre delta sarcoglycan NOT_TRANSLATED -HP:0030112 Abnormal muscle fibre alpha dystroglycan NOT_TRANSLATED -HP:0030113 Abnormal muscle fibre dysferlin NOT_TRANSLATED -HP:0030114 Absent muscle fibre dysferlin NOT_TRANSLATED -HP:0030115 Reduced muscle fibre dysferlin NOT_TRANSLATED -HP:0030116 Abnormal muscle fibre emerin NOT_TRANSLATED -HP:0030117 Absent muscle fibre emerin NOT_TRANSLATED -HP:0030118 Reduced muscle fibre emerin NOT_TRANSLATED -HP:0030119 Abnormal muscle fibre calpain-3 NOT_TRANSLATED -HP:0030120 Absent muscle fibre calpain-3 NOT_TRANSLATED -HP:0030121 Reduced muscle fibre calpain-3 NOT_TRANSLATED -HP:0030122 Reduced muscle fibre perlecan NOT_TRANSLATED -HP:0030123 Abnormal muscle fibre lamin A/C NOT_TRANSLATED -HP:0030124 Reduced muscle fibre lamin A/C NOT_TRANSLATED -HP:0030125 L5 sacralization NOT_TRANSLATED -HP:0030126 Abnormality of the endometrium NOT_TRANSLATED -HP:0030140 Bleeding from mouth NOT_TRANSLATED -HP:0030140 Oral cavity haemorrhage NOT_TRANSLATED -HP:0030140 Oral cavity hemorrhage NOT_TRANSLATED -HP:0030141 Abnormality of hairline at back of head NOT_TRANSLATED -HP:0030143 Borborygmi NOT_TRANSLATED -HP:0030143 Increased bowel sounds NOT_TRANSLATED -HP:0030144 Decreased bowel sounds NOT_TRANSLATED -HP:0030148 Cardiac murmur NOT_TRANSLATED -HP:0030148 Cardiac murmurs NOT_TRANSLATED -HP:0030148 Heart murmurs NOT_TRANSLATED -HP:0030149 Cardiovascular shock NOT_TRANSLATED -HP:0030151 Bile duct inflammation NOT_TRANSLATED -HP:0030153 Bile duct cancer NOT_TRANSLATED -HP:0030154 Gall bladder perforation NOT_TRANSLATED -HP:0030157 Kidney pain NOT_TRANSLATED -HP:0030158 Cervical ectopy NOT_TRANSLATED -HP:0030158 Cervical erosion NOT_TRANSLATED -HP:0030159 Cervical tumor NOT_TRANSLATED -HP:0030159 Cervical tumour NOT_TRANSLATED -HP:0030160 Uterine cervicitis NOT_TRANSLATED -HP:0030160 Uterine cervix inflammation NOT_TRANSLATED -HP:0030164 Jaw pain while chewing NOT_TRANSLATED -HP:0030166 Nocturnal hyperhidrosis NOT_TRANSLATED -HP:0030167 Serum antimitochrondrial antibodies NOT_TRANSLATED -HP:0030168 Dilatation of the superficial abdominal veins NOT_TRANSLATED -HP:0030169 Gastric varices NOT_TRANSLATED -HP:0030173 Increased peripheral myelination NOT_TRANSLATED -HP:0030175 Tomacula NOT_TRANSLATED -HP:0030177 Abnormal nerve conduction study NOT_TRANSLATED -HP:0030178 Abnormality of CNS electrophysiology NOT_TRANSLATED -HP:0030180 Oppenheim sign NOT_TRANSLATED -HP:0030181 Gordon sign NOT_TRANSLATED -HP:0030183 Visually enhanced vestibulo-ocular reflex impairment NOT_TRANSLATED -HP:0030183 VVOR impairment NOT_TRANSLATED -HP:0030185 Dystonia tremor NOT_TRANSLATED -HP:0030186 Essential tremor NOT_TRANSLATED -HP:0030188 Tremor of a body part NOT_TRANSLATED -HP:0030191 Abnormal PNS synaptic transmission NOT_TRANSLATED -HP:0030202 Favourable response of weakness to acetylcholine esterase inhibitors NOT_TRANSLATED -HP:0030203 Unfavourable response of muscle weakness to acetylcholine esterase inhibitors NOT_TRANSLATED -HP:0030205 Increased jitter at single fibre electromyography NOT_TRANSLATED -HP:0030205 Increased jitter at single fibre EMG NOT_TRANSLATED -HP:0030207 Flail chest NOT_TRANSLATED -HP:0030207 Paradoxical breathing NOT_TRANSLATED -HP:0030208 Acetylcholine receptor antibody positivity NOT_TRANSLATED -HP:0030208 Anti-AChR antibody positivity NOT_TRANSLATED -HP:0030209 Ca channel antibody positivity NOT_TRANSLATED -HP:0030209 Ca2+ channel antibody positivity NOT_TRANSLATED -HP:0030210 Anti-MUSK antibodies NOT_TRANSLATED -HP:0030210 Muscle specific kinase antibody positivity NOT_TRANSLATED -HP:0030211 Sluggish pupillary reaction NOT_TRANSLATED -HP:0030212 Compulsive hoarding NOT_TRANSLATED -HP:0030214 Sex addiction NOT_TRANSLATED -HP:0030219 Trouble remembering words NOT_TRANSLATED -HP:0030220 Socially inappropriate behaviour NOT_TRANSLATED -HP:0030223 Perseverative behavior NOT_TRANSLATED -HP:0030223 Perseverative behaviour NOT_TRANSLATED -HP:0030224 Abnormal muscle fibre desmin NOT_TRANSLATED -HP:0030225 Accumulation of muscle fibre desmin NOT_TRANSLATED -HP:0030225 Muscle fiber desmin-reactive inclusion bodies NOT_TRANSLATED -HP:0030225 Muscle fibre desmin-reactive inclusion bodies NOT_TRANSLATED -HP:0030226 Abnormal muscle fibre myotilin NOT_TRANSLATED -HP:0030227 Accumulation of muscle fibre myotilin NOT_TRANSLATED -HP:0030228 Abnormal muscle fibre valosin-containing protein NOT_TRANSLATED -HP:0030229 Accumulation of muscle fibre valosin-containing protein NOT_TRANSLATED -HP:0030230 Central core regions in muscle fibres NOT_TRANSLATED -HP:0030231 Glycogen accumulation in muscle fibre lysosomes NOT_TRANSLATED -HP:0030233 Bethlem phenomenon NOT_TRANSLATED -HP:0030234 Highly elevated CPK NOT_TRANSLATED -HP:0030234 Highly elevated creatine phosphokinase NOT_TRANSLATED -HP:0030234 Highly elevated serum CK NOT_TRANSLATED -HP:0030234 Highly elevated serum CPK NOT_TRANSLATED -HP:0030234 Highly elevated serum phosph-CK NOT_TRANSLATED -HP:0030235 Extremely elevated CPK NOT_TRANSLATED -HP:0030235 Extremely elevated creatine phosphokinase NOT_TRANSLATED -HP:0030235 Extremely elevated phospho-CK serum level NOT_TRANSLATED -HP:0030235 Extremely elevated serum CK level NOT_TRANSLATED -HP:0030235 Extremely high CPK level NOT_TRANSLATED -HP:0030239 Underdeveloped upper arm muscles NOT_TRANSLATED -HP:0030241 Deltoid muscle hypoplasia NOT_TRANSLATED -HP:0030242 Blood clot in portal vein NOT_TRANSLATED -HP:0030243 Blood clot in liver vein NOT_TRANSLATED -HP:0030243 Hepatic venous thrombosis NOT_TRANSLATED -HP:0030244 Maternal fever during pregnancy NOT_TRANSLATED -HP:0030245 Maternal fever during labor NOT_TRANSLATED -HP:0030245 Maternal fever during labour NOT_TRANSLATED -HP:0030247 Blood clot in splanchnic vein NOT_TRANSLATED -HP:0030248 Blood clot in mesentertic vein NOT_TRANSLATED -HP:0030252 Absence of mature B cells NOT_TRANSLATED -HP:0030254 Nail bed haemorrhage NOT_TRANSLATED -HP:0030257 Genitalia, ephelides NOT_TRANSLATED -HP:0030258 Increased genital pigmentation NOT_TRANSLATED -HP:0030258 Penile melanosis NOT_TRANSLATED -HP:0030259 Decreased genital pigmentation NOT_TRANSLATED -HP:0030261 Aphallia NOT_TRANSLATED -HP:0030261 Aplasia of the penis NOT_TRANSLATED -HP:0030261 Penis aplasia NOT_TRANSLATED -HP:0030269 Elevated serum IGF1 NOT_TRANSLATED -HP:0030269 Increased serum IGF1 NOT_TRANSLATED -HP:0030269 Increased serum insulin-like growth factor 1 NOT_TRANSLATED -HP:0030274 Extra scrotum NOT_TRANSLATED -HP:0030275 Abnormal scrotum position NOT_TRANSLATED -HP:0030282 Dorsal rib defect NOT_TRANSLATED -HP:0030284 Triangle shaped tongue NOT_TRANSLATED -HP:0030289 Flattended end part of thigh bone NOT_TRANSLATED -HP:0030290 Absence of sacrum ossification NOT_TRANSLATED -HP:0030293 Irregularity of wide portion of calf bone NOT_TRANSLATED -HP:0030299 Abnormality of wide portion of outermost thighbone NOT_TRANSLATED -HP:0030307 Flared metaphysis of lower limb bone NOT_TRANSLATED -HP:0030308 Flared outermost metaphysis of shankbone NOT_TRANSLATED -HP:0030308 Flared outermost metaphysis of shinbone NOT_TRANSLATED -HP:0030309 Flared outermost wide portion of of calf bone NOT_TRANSLATED -HP:0030310 Dislocated arm joints NOT_TRANSLATED -HP:0030311 Dislocated leg joints NOT_TRANSLATED -HP:0030312 Obliteration of cranial cancellous bone NOT_TRANSLATED -HP:0030318 Angular cheilosis NOT_TRANSLATED -HP:0030318 Angular stomatitis NOT_TRANSLATED -HP:0030318 Commissural cheilitis NOT_TRANSLATED -HP:0030318 Inflammation of corners of the mouth NOT_TRANSLATED -HP:0030318 Inflammation of oral commisures NOT_TRANSLATED -HP:0030318 Red and sore corners of the mouth NOT_TRANSLATED -HP:0030319 Decreased facial muscle strength NOT_TRANSLATED -HP:0030319 Decreased strength of facial muscles NOT_TRANSLATED -HP:0030319 Face weakness NOT_TRANSLATED -HP:0030319 Facial muscle weakness NOT_TRANSLATED -HP:0030319 Facial weakness NOT_TRANSLATED -HP:0030319 Myasthenia of facial muscles NOT_TRANSLATED -HP:0030319 Reduced facial muscle strength NOT_TRANSLATED -HP:0030319 Weakness of face NOT_TRANSLATED -HP:0030321 Abnormality of the vertebral artery NOT_TRANSLATED -HP:0030336 Absence of CD4+CD25+ T regulatory cells NOT_TRANSLATED -HP:0030336 Absence of CD4+CD25+ Tregs NOT_TRANSLATED -HP:0030338 Abnormal circulating gonadotropin level NOT_TRANSLATED -HP:0030339 Decreased circulating gonadotropin level NOT_TRANSLATED -HP:0030341 Decreased circulating follicle stimulating hormone level NOT_TRANSLATED -HP:0030344 Decreased circulating luteinising hormone level NOT_TRANSLATED -HP:0030345 Abnormal circulating luteinizing hormone level NOT_TRANSLATED -HP:0030345 Abnormal luteinizing hormone level NOT_TRANSLATED -HP:0030345 Increased circulating lutropin NOT_TRANSLATED -HP:0030346 Abnormal circulating follicle-stimulating hormone level NOT_TRANSLATED -HP:0030348 Hyperandrogenemia NOT_TRANSLATED -HP:0030348 Increased circulating androgen level NOT_TRANSLATED -HP:0030349 Decreased circulating androgen level NOT_TRANSLATED -HP:0030350 Red-blue papule NOT_TRANSLATED -HP:0030354 Abnormal serum interferon level NOT_TRANSLATED -HP:0030355 Abnormal serum interferon-gamma level NOT_TRANSLATED -HP:0030356 Increased serum interferon-gamma level NOT_TRANSLATED -HP:0030357 Oat cell carcinoma of lung NOT_TRANSLATED -HP:0030357 Oat cell lung cancer NOT_TRANSLATED -HP:0030357 Small cell lung cancer NOT_TRANSLATED -HP:0030358 Non-small cell lung cancer NOT_TRANSLATED -HP:0030361 Abnormality of icosanoid metabolism NOT_TRANSLATED -HP:0030368 Hyperphalangy of index finger NOT_TRANSLATED -HP:0030376 Abnormal proportion of CD19+/CD21low B cells NOT_TRANSLATED -HP:0030377 Increased proportion of CD19+/CD21low B cells NOT_TRANSLATED -HP:0030378 Decreased proportion of CD19+/CD21low B cells NOT_TRANSLATED -HP:0030379 Abnormal proportion of CD19+CD38+IgM+ cells NOT_TRANSLATED -HP:0030380 Decreased proportion of CD19+CD38+IgM+ cells NOT_TRANSLATED -HP:0030381 Increased proportion of CD19+CD38+IgM+ cells NOT_TRANSLATED -HP:0030386 Abnormal proportion of CD19+CD27+IgD- cells NOT_TRANSLATED -HP:0030387 Increased proportion of CD19+CD27+IgD- cells NOT_TRANSLATED -HP:0030388 Decreased proportion of CD19+CD27+IgD- cells NOT_TRANSLATED -HP:0030393 Aggressive papillary middle ear tumor NOT_TRANSLATED -HP:0030393 Aggressive papillary middle ear tumour NOT_TRANSLATED -HP:0030393 Endolymphatic sac tumour NOT_TRANSLATED -HP:0030393 Heffner tumor NOT_TRANSLATED -HP:0030393 Heffner tumour NOT_TRANSLATED -HP:0030393 Low-grade adenocarcinoma of endolymphatic sac origin NOT_TRANSLATED -HP:0030405 Pancreatic endocrine tumour NOT_TRANSLATED -HP:0030408 Pinealoblastoma NOT_TRANSLATED -HP:0030409 renal TCC NOT_TRANSLATED -HP:0030409 Renal urothelial carcinoma NOT_TRANSLATED -HP:0030409 Transitional renal cell carcinoma NOT_TRANSLATED -HP:0030410 Sebaceous carcinoma NOT_TRANSLATED -HP:0030415 Spindle cell carcinoma of the tongue NOT_TRANSLATED -HP:0030416 Neoplasm of the vulva NOT_TRANSLATED -HP:0030416 Tumor of the vulva NOT_TRANSLATED -HP:0030416 Tumour of the vulva NOT_TRANSLATED -HP:0030417 Vulval squamous cell carcinoma NOT_TRANSLATED -HP:0030423 Cyst on spleen NOT_TRANSLATED -HP:0030424 Epididymal cysts NOT_TRANSLATED -HP:0030430 Nerve tumor NOT_TRANSLATED -HP:0030430 Nerve tumour NOT_TRANSLATED -HP:0030430 Pinched nerve NOT_TRANSLATED -HP:0030431 Osteocartilaginous exostoses NOT_TRANSLATED -HP:0030431 Osteochondromas NOT_TRANSLATED -HP:0030436 Fibrofolliculomas NOT_TRANSLATED -HP:0030437 Anal canal tumor NOT_TRANSLATED -HP:0030437 Anal canal tumour NOT_TRANSLATED -HP:0030445 Lung carcinoid tumor NOT_TRANSLATED -HP:0030445 Lung carcinoid tumour NOT_TRANSLATED -HP:0030445 Pulmonary carcinoid tumour NOT_TRANSLATED -HP:0030446 Atypical pulmonary carcinoid tumour NOT_TRANSLATED -HP:0030447 Anaplastic carcinoma of the skin NOT_TRANSLATED -HP:0030447 Cutaneous APUDoma NOT_TRANSLATED -HP:0030447 Merkel cell cancer of the skin NOT_TRANSLATED -HP:0030447 Neuroendocrine carcinoma of the skin NOT_TRANSLATED -HP:0030447 Neuroendocrine tumor of the skin NOT_TRANSLATED -HP:0030447 Neuroendocrine tumour of the skin NOT_TRANSLATED -HP:0030447 Primary small cell carcinoma of the skin NOT_TRANSLATED -HP:0030447 Primary undifferentiated carcinoma of the skin NOT_TRANSLATED -HP:0030448 Soft tissue sarcomas NOT_TRANSLATED -HP:0030454 Abnormal EOG NOT_TRANSLATED -HP:0030456 Abnormality of pattern onset/offset VEP NOT_TRANSLATED -HP:0030457 Abnormal amplitude of pattern onset/offset VEP NOT_TRANSLATED -HP:0030463 Crossed asymmetry of flash visual evoked potentials NOT_TRANSLATED -HP:0030464 Crossed asymmetry of pattern reversal visual evoked potentials NOT_TRANSLATED -HP:0030465 Absent photopic (cone) responses on ERG NOT_TRANSLATED -HP:0030465 non-detectable photopic ERG NOT_TRANSLATED -HP:0030473 Abnormal light adapted flicker electroretinogram NOT_TRANSLATED -HP:0030473 Abnormal light-adapted 30Hz flicker electroretinogram NOT_TRANSLATED -HP:0030473 Abnormal light-adapted 30Hz flicker ERG NOT_TRANSLATED -HP:0030473 Abnormal light-adapted flicker ERG NOT_TRANSLATED -HP:0030495 Abnormality of macular vasculature NOT_TRANSLATED -HP:0030496 Macular exudates NOT_TRANSLATED -HP:0030496 Macular exudation NOT_TRANSLATED -HP:0030499 Lipid accumulation in macula NOT_TRANSLATED -HP:0030503 Juxtafoveal telangiectasia NOT_TRANSLATED -HP:0030503 Parafoveal telangiectasia NOT_TRANSLATED -HP:0030504 Bear track congenital hypertrophy of retinal pigment epithelium NOT_TRANSLATED -HP:0030505 Nummular pigmentation of the retina NOT_TRANSLATED -HP:0030508 Retinal cavernous haemangioma NOT_TRANSLATED -HP:0030509 Retinal racemose haemangioma NOT_TRANSLATED -HP:0030511 Difficulty seeing moving objects NOT_TRANSLATED -HP:0030515 Moderate reduction in visual acuity NOT_TRANSLATED -HP:0030515 Moderate vision loss NOT_TRANSLATED -HP:0030515 Moderate visual impairment NOT_TRANSLATED -HP:0030515 Moderate visual loss NOT_TRANSLATED -HP:0030516 Homonymous hemianopsia NOT_TRANSLATED -HP:0030517 Heteronymous hemianopsia NOT_TRANSLATED -HP:0030518 Congruous hemianopsia NOT_TRANSLATED -HP:0030522 Mild peripheral visual field loss NOT_TRANSLATED -HP:0030525 Moderate peripheral visual field loss NOT_TRANSLATED -HP:0030526 Severe peripheral visual field loss NOT_TRANSLATED -HP:0030527 Very severe peripheral visual field loss NOT_TRANSLATED -HP:0030530 Arc-shaped blind spot NOT_TRANSLATED -HP:0030584 Colour vision test abnormality NOT_TRANSLATED -HP:0030632 Hypo-autofluorescent macular lesion NOT_TRANSLATED -HP:0030637 Cone dysfunction NOT_TRANSLATED -HP:0030637 Cone dysfunction syndrome NOT_TRANSLATED -HP:0030644 Blind spot enlargment NOT_TRANSLATED -HP:0030648 Mid-peripheral NOT_TRANSLATED -HP:0030657 Umbilical cord haematoma NOT_TRANSLATED -HP:0030658 Battledore placenta NOT_TRANSLATED -HP:0030658 Marginal cord insertion NOT_TRANSLATED -HP:0030665 Holmes' tremor NOT_TRANSLATED -HP:0030666 Retinal neovascularisation NOT_TRANSLATED -HP:0030671 Abnormality of the common tendinous ring NOT_TRANSLATED -HP:0030674 Intrauterine onset NOT_TRANSLATED -HP:0030674 Onset in utero NOT_TRANSLATED -HP:0030674 Prenatal onset NOT_TRANSLATED -HP:0030676 Devil ear NOT_TRANSLATED -HP:0030680 Cardiovascular malformations NOT_TRANSLATED -HP:0030683 Vulvovaginitis NOT_TRANSLATED -HP:0030692 Brain tumor NOT_TRANSLATED -HP:0030692 Brain tumour NOT_TRANSLATED -HP:0030693 Pineal parenchymal tumor NOT_TRANSLATED -HP:0030693 Pineal parenchymal tumour NOT_TRANSLATED -HP:0030706 Sublingual cyst NOT_TRANSLATED -HP:0030706 Sublingual ptyalocele NOT_TRANSLATED -HP:0030707 Unilateral pulmonary agenesis NOT_TRANSLATED -HP:0030712 Asherman syndrome NOT_TRANSLATED -HP:0030713 Median prosencephalic arteriovenous fistula NOT_TRANSLATED -HP:0030713 Vein of Galen aneurysm NOT_TRANSLATED -HP:0030713 Vein of Galen malformation NOT_TRANSLATED -HP:0030714 Breus' mole NOT_TRANSLATED -HP:0030715 Congenital bronchial atresia NOT_TRANSLATED -HP:0030718 Dilated right atrium NOT_TRANSLATED -HP:0030718 Enlarged heart right atrium NOT_TRANSLATED -HP:0030718 Right atrial dilatation NOT_TRANSLATED -HP:0030719 Rudimentary tricuspid valve leaflets NOT_TRANSLATED -HP:0030719 Unguarded tricuspid valve orifice NOT_TRANSLATED -HP:0030724 CNS cyst NOT_TRANSLATED -HP:0030724 Cyst of the central nervous system NOT_TRANSLATED -HP:0030729 Frontoethmoid meningocele NOT_TRANSLATED -HP:0030732 Tricuspid valve dysplasia NOT_TRANSLATED -HP:0030740 Right ventricular anomalous muscle bundle NOT_TRANSLATED -HP:0030741 Teratoma of the mediastinum NOT_TRANSLATED -HP:0030742 Mittendorf dot NOT_TRANSLATED -HP:0030743 Bergmeister papilla NOT_TRANSLATED -HP:0030745 Aneurysm of the ductus arteriosus NOT_TRANSLATED -HP:0030745 Congenital ductus arteriosus aneurysm NOT_TRANSLATED -HP:0030745 Ductus arteriosus aneurysm NOT_TRANSLATED -HP:0030746 Intraventricular haemorrhage NOT_TRANSLATED -HP:0030747 Preterm intraventricular haemorrhage NOT_TRANSLATED -HP:0030748 Germinal matrix haemorrhage NOT_TRANSLATED -HP:0030748 Germinal matrix hemorrhage NOT_TRANSLATED -HP:0030748 Grade I preterm intraventricular haemorrhage NOT_TRANSLATED -HP:0030749 Grade II preterm intraventricular haemorrhage NOT_TRANSLATED -HP:0030750 Grade III preterm intraventricular haemorrhage NOT_TRANSLATED -HP:0030751 Grade IV preterm intraventricular haemorrhage NOT_TRANSLATED -HP:0030752 Timo cyst NOT_TRANSLATED -HP:0030753 Intrauterine foetal demise of one twin after midgestation NOT_TRANSLATED -HP:0030753 Single-twin demise NOT_TRANSLATED -HP:0030756 Red teeth NOT_TRANSLATED -HP:0030757 Dental abscess NOT_TRANSLATED -HP:0030757 Dentoalveolar abscess NOT_TRANSLATED -HP:0030759 Fat cell hypertrophy NOT_TRANSLATED -HP:0030760 Kidney fibrosis NOT_TRANSLATED -HP:0030763 Amniotic shelf NOT_TRANSLATED -HP:0030765 Night terror NOT_TRANSLATED -HP:0030765 Pavor nocturnus NOT_TRANSLATED -HP:0030765 Sleep terrors NOT_TRANSLATED -HP:0030766 Otalgia NOT_TRANSLATED -HP:0030766 Pain in the ear NOT_TRANSLATED -HP:0030776 Modic type 1 vertebral endplate changes NOT_TRANSLATED -HP:0030777 Modic type 2 vertebral endplate changes NOT_TRANSLATED -HP:0030778 Modic type 3 vertebral endplate changes NOT_TRANSLATED -HP:0030782 Abnormal serum IL level NOT_TRANSLATED -HP:0030782 Abnormal serum interleukin level NOT_TRANSLATED -HP:0030783 Increased serum IL-6 NOT_TRANSLATED -HP:0030783 Increased serum interleukin-6 NOT_TRANSLATED -HP:0030784 Amnesic aphasia NOT_TRANSLATED -HP:0030784 Amnestic aphasia NOT_TRANSLATED -HP:0030784 Anomia NOT_TRANSLATED -HP:0030784 Nominal aphasia NOT_TRANSLATED -HP:0030784 Word-finding difficulty NOT_TRANSLATED -HP:0030785 Intrathoracic cystic hygroma NOT_TRANSLATED -HP:0030785 Thoracic cystic lymphangioma NOT_TRANSLATED -HP:0030790 Abnormal cerumen colour NOT_TRANSLATED -HP:0030790 Abnormal cerumen pigmentation NOT_TRANSLATED -HP:0030794 Abnormal C peptide level NOT_TRANSLATED -HP:0030794 Abnormal C-peptide level NOT_TRANSLATED -HP:0030795 Reduced C peptide level NOT_TRANSLATED -HP:0030796 Increased C peptide level NOT_TRANSLATED -HP:0030805 Absent lunulae NOT_TRANSLATED -HP:0030805 Lunula absent NOT_TRANSLATED -HP:0030805 Lunulae absent NOT_TRANSLATED -HP:0030811 Painful tongue NOT_TRANSLATED -HP:0030812 Enlargment of tonsils NOT_TRANSLATED -HP:0030812 Tonsillar hypertrophy NOT_TRANSLATED -HP:0030812 tonsils large/hypertrophy NOT_TRANSLATED -HP:0030813 Hypoplastic tonsils NOT_TRANSLATED -HP:0030813 Tonsillar hypoplasia NOT_TRANSLATED -HP:0030814 Orange colored tonsils NOT_TRANSLATED -HP:0030814 Orange coloured tonsils NOT_TRANSLATED -HP:0030814 Orange discoloured tonsils NOT_TRANSLATED -HP:0030814 Orange tonsils NOT_TRANSLATED -HP:0030814 Tonsils with orange deposits NOT_TRANSLATED -HP:0030815 Tongue lipoma NOT_TRANSLATED -HP:0030816 Gum recession NOT_TRANSLATED -HP:0030816 Receding gums NOT_TRANSLATED -HP:0030818 Median nail dystrophy NOT_TRANSLATED -HP:0030819 Upslanting nail NOT_TRANSLATED -HP:0030819 Upward angulation of nail NOT_TRANSLATED -HP:0030823 Thick sclera NOT_TRANSLATED -HP:0030824 Mizuo-Nakamura phenomenon NOT_TRANSLATED -HP:0030825 Foveal reflex absent NOT_TRANSLATED -HP:0030825 Loss of foveal reflex NOT_TRANSLATED -HP:0030826 Eyelid fluttering NOT_TRANSLATED -HP:0030826 Fasciculation of the eyelid NOT_TRANSLATED -HP:0030826 Muscle twitches in eye lid NOT_TRANSLATED -HP:0030826 Muscle twitches in eyelid NOT_TRANSLATED -HP:0030826 Twitching around eyes NOT_TRANSLATED -HP:0030829 Abnormal lung auscultation finding NOT_TRANSLATED -HP:0030830 Crepitations NOT_TRANSLATED -HP:0030830 Rales NOT_TRANSLATED -HP:0030839 Pain under knee cap NOT_TRANSLATED -HP:0030843 Amyloid cardiomyopathy NOT_TRANSLATED -HP:0030853 Heterotaxia NOT_TRANSLATED -HP:0030854 Staphyloma NOT_TRANSLATED -HP:0030858 Addictive behaviour NOT_TRANSLATED -HP:0030859 Anti-Scl-70 antibody positivity NOT_TRANSLATED -HP:0030859 Top1 antibody positivity NOT_TRANSLATED -HP:0030859 Topoisomerase (DNA) I antibody positivity NOT_TRANSLATED -HP:0030860 Abnormal CSF A[beta]42 level NOT_TRANSLATED -HP:0030860 Abnormal CSF amyloid level NOT_TRANSLATED -HP:0030861 Decreased CSF amyloid level NOT_TRANSLATED -HP:0030862 Elevated CSF amyloid level NOT_TRANSLATED -HP:0030864 Chest retractions NOT_TRANSLATED -HP:0030865 Prominent elbow NOT_TRANSLATED -HP:0030867 Eyes at different heights NOT_TRANSLATED -HP:0030867 Misaligned eyes NOT_TRANSLATED -HP:0030867 Unequal eye height NOT_TRANSLATED -HP:0030868 Monorchidism NOT_TRANSLATED -HP:0030870 Abnormality of apophyseal joint NOT_TRANSLATED -HP:0030870 Abnormality of Z-joint NOT_TRANSLATED -HP:0030870 Abnormality of zygapophyseal joint NOT_TRANSLATED -HP:0030870 Abnormality of zygapophysial joint NOT_TRANSLATED -HP:0030871 Facet arthritis NOT_TRANSLATED -HP:0030873 ACA positivity NOT_TRANSLATED -HP:0030873 Anticentromere antibody positivity NOT_TRANSLATED -HP:0030874 O2 desaturation on exertion NOT_TRANSLATED -HP:0030875 Abnormal pulmonary circulation NOT_TRANSLATED -HP:0030875 Abnormality of respiratory circulation NOT_TRANSLATED -HP:0030876 Increased pulmonary arterial wedge pressure NOT_TRANSLATED -HP:0030876 Increased pulmonary artery occlusion pressure NOT_TRANSLATED -HP:0030877 Obstructive deficit on pulmonary function test NOT_TRANSLATED -HP:0030877 Obstructive deficit on pulmonary function testing NOT_TRANSLATED -HP:0030878 Abnormal pulmonary function test NOT_TRANSLATED -HP:0030878 Abnormal spirometry test NOT_TRANSLATED -HP:0030879 Interlobular lines (pulmonary CT finding) NOT_TRANSLATED -HP:0030879 Interlobular septal thickening on pulmonary HRCT NOT_TRANSLATED -HP:0030879 Peripheral lines (pulmonary CT finding) NOT_TRANSLATED -HP:0030879 Septal lines (pulmonary CT finding) NOT_TRANSLATED -HP:0030879 Septal thickening (pulmonary CT finding) NOT_TRANSLATED -HP:0030879 Short lines (pumonary CT finding) NOT_TRANSLATED -HP:0030880 Raynaud disease NOT_TRANSLATED -HP:0030880 Raynaud's phenomenon NOT_TRANSLATED -HP:0030882 Coronary arterial dilatation NOT_TRANSLATED -HP:0030882 Coronary artery dilatation NOT_TRANSLATED -HP:0030882 Coronary artery ectasia NOT_TRANSLATED -HP:0030883 Femoral acetabular impingement NOT_TRANSLATED -HP:0030884 Gastro-jejunal tube feeding in infancy NOT_TRANSLATED -HP:0030889 Short bowel NOT_TRANSLATED -HP:0030890 White matter hyperintensity NOT_TRANSLATED -HP:0030891 PVWMH NOT_TRANSLATED -HP:0030892 DWMH NOT_TRANSLATED -HP:0030895 Abnormal GI motility NOT_TRANSLATED -HP:0030896 Abnormal GI transit time NOT_TRANSLATED -HP:0030900 Itchy feet NOT_TRANSLATED -HP:0030900 Itchy foot NOT_TRANSLATED -HP:0030903 Palmar grasp reflex NOT_TRANSLATED -HP:0030904 Myerson's sign NOT_TRANSLATED -HP:0030906 Persistent nutritive suckle swallow NOT_TRANSLATED -HP:0030908 Anti-liver kidney microsomal type 1 antibody positivity NOT_TRANSLATED -HP:0030908 Anti-LKM-1 positive NOT_TRANSLATED -HP:0030908 Anti-LKM1 antibody positivity NOT_TRANSLATED -HP:0030908 Anti-type I liver-kidney microsomal antibody positivity NOT_TRANSLATED -HP:0030909 Anti-liver cytosol antibody-1 positivity NOT_TRANSLATED -HP:0030913 Scrotum-like labia majora NOT_TRANSLATED -HP:0030915 Cerebellar oedema NOT_TRANSLATED -HP:0030915 Edema of the cerebellum NOT_TRANSLATED -HP:0030915 Oedema of the cerebellum NOT_TRANSLATED -HP:0030918 Low one-minute APGAR score NOT_TRANSLATED -HP:0030919 Low five-minute APGAR score NOT_TRANSLATED -HP:0030934 Oral erythroplasia NOT_TRANSLATED -HP:0030936 Muscularis propria malformation NOT_TRANSLATED -HP:0030936 Segmental additional circular muscle coat NOT_TRANSLATED -HP:0030939 Eyelid thickening NOT_TRANSLATED -HP:0030939 Thick eyelids NOT_TRANSLATED -HP:0030939 Thickened but nonswollen eyelids NOT_TRANSLATED -HP:0030939 Thickened eyelid NOT_TRANSLATED -HP:0030943 Vulvar pain NOT_TRANSLATED -HP:0030946 Bumps under the upper eyelid NOT_TRANSLATED -HP:0030946 Tarsal papillae NOT_TRANSLATED -HP:0030948 Elevated serum GGT NOT_TRANSLATED -HP:0030951 Muscle biopsy: fibrosis NOT_TRANSLATED -HP:0030952 Birdshot choroidal lesions NOT_TRANSLATED -HP:0030952 Birdshot laesions NOT_TRANSLATED -HP:0030952 Birdshot lesions NOT_TRANSLATED -HP:0030953 Conjunctival hyperaemia NOT_TRANSLATED -HP:0030953 Conjunctival injection NOT_TRANSLATED -HP:0030953 Conjunctival vascular congestion NOT_TRANSLATED -HP:0030957 Ventricular septal dilatation NOT_TRANSLATED -HP:0030958 Aneurysm of the membranous ventricular septum NOT_TRANSLATED -HP:0030958 Interventricular septum membranous part aneurysm NOT_TRANSLATED -HP:0030959 Aneurysm of the muscular ventricular septum NOT_TRANSLATED -HP:0030965 Increased aortic stiffness NOT_TRANSLATED -HP:0030972 Abnormal systemic BP NOT_TRANSLATED -HP:0030973 Exercise-induced malaise NOT_TRANSLATED -HP:0030973 Postexertional malaise NOT_TRANSLATED -HP:0030974 Cryptospermia NOT_TRANSLATED -HP:0030975 Vaulted pontine tegmentum NOT_TRANSLATED -HP:0030977 Elevated factor VIII level NOT_TRANSLATED -HP:0030979 Dilated choroidal vessels NOT_TRANSLATED -HP:0030991 Fibrous cholangitis NOT_TRANSLATED -HP:0030993 Duplicated pancreatic duct NOT_TRANSLATED -HP:0030997 Atresia of the vas deferens NOT_TRANSLATED -HP:0030997 Vas deferens atresia NOT_TRANSLATED -HP:0030998 CSF rhinorrhoea NOT_TRANSLATED -HP:0031003 Multiple neuritis NOT_TRANSLATED -HP:0031007 Jaw dystonia induced by speaking NOT_TRANSLATED -HP:0031008 Tongue dystonia NOT_TRANSLATED -HP:0031009 Dactylolysis spontanea NOT_TRANSLATED -HP:0031010 Hyperphalangy of third finger NOT_TRANSLATED -HP:0031011 Sudanophilic lesion NOT_TRANSLATED -HP:0031012 TCFA NOT_TRANSLATED -HP:0031014 Aberrant right subclavian artery NOT_TRANSLATED -HP:0031014 Lusorian artery NOT_TRANSLATED -HP:0031015 Idiopathic non-cirrhotic portal hypertension NOT_TRANSLATED -HP:0031015 Incomplete septal cirrhosis NOT_TRANSLATED -HP:0031015 Non cirrhotic portal fibrosis NOT_TRANSLATED -HP:0031015 Obliterative portal venopathy NOT_TRANSLATED -HP:0031016 Zebra stripe sign NOT_TRANSLATED -HP:0031018 Acrosyringeal adenomatosis NOT_TRANSLATED -HP:0031018 Eccrine syringofibroadenomatous hyperplasia NOT_TRANSLATED -HP:0031018 Syringofibroadenoma NOT_TRANSLATED -HP:0031022 Squamous papilloma of the uvula NOT_TRANSLATED -HP:0031026 Schneckenbecken dysplasia NOT_TRANSLATED -HP:0031026 Snail-like pelvis NOT_TRANSLATED -HP:0031026 Snail-shaped ilia NOT_TRANSLATED -HP:0031028 Milk-like serum NOT_TRANSLATED -HP:0031028 Plasma lactescence NOT_TRANSLATED -HP:0031029 Increased plasma CEA NOT_TRANSLATED -HP:0031030 Increased plasma CA125 NOT_TRANSLATED -HP:0031033 Renal acidification defect NOT_TRANSLATED -HP:0031036 Decreased plasma GH-binding protein NOT_TRANSLATED -HP:0031037 Reduced plasma INSL3 level NOT_TRANSLATED -HP:0031038 Meiotic maturation arrest of spermatogenesis NOT_TRANSLATED -HP:0031039 Spermatocytic arrest NOT_TRANSLATED -HP:0031040 Maturation arrest of spermatogenesis at spermatid stage NOT_TRANSLATED -HP:0031041 Superior vena cava obstruction NOT_TRANSLATED -HP:0031041 Superior vena cava syndrome NOT_TRANSLATED -HP:0031042 Raspberry tongue NOT_TRANSLATED -HP:0031046 Agenesis of the soft palate NOT_TRANSLATED -HP:0031047 Monoclonal hypergammaglobulinemia NOT_TRANSLATED -HP:0031052 Elevated circulating VEGF concentration NOT_TRANSLATED -HP:0031056 Intracranial fusiform aneurysm NOT_TRANSLATED -HP:0031057 Cracked skin NOT_TRANSLATED -HP:0031067 Empty follicle syndrome NOT_TRANSLATED -HP:0031074 Abnormal response to adrenocorticotropic-hormone stimulation test NOT_TRANSLATED -HP:0031074 Abnormal response to corticotropin stimulation test NOT_TRANSLATED -HP:0031077 Abnormal response to CRH stimulation test NOT_TRANSLATED -HP:0031083 Abnormal response to hCG stimulation test NOT_TRANSLATED -HP:0031086 Undescended ovary NOT_TRANSLATED -HP:0031087 Absent adolescent growth spurt NOT_TRANSLATED -HP:0031089 Palatal oedema NOT_TRANSLATED -HP:0031089 Palate edema NOT_TRANSLATED -HP:0031089 Palate oedema NOT_TRANSLATED -HP:0031090 Sausage fingers NOT_TRANSLATED -HP:0031091 Sausage toes NOT_TRANSLATED -HP:0031097 Abnormal circulating thyrotropin concentration NOT_TRANSLATED -HP:0031097 Abnormal thyrotropin level NOT_TRANSLATED -HP:0031097 Abnormal TSH level NOT_TRANSLATED -HP:0031098 Decreased plasma TSH NOT_TRANSLATED -HP:0031098 Decreased thyrotropin level NOT_TRANSLATED -HP:0031101 Abnormal antimullerian hormone level NOT_TRANSLATED -HP:0031102 Increased plasma AMH NOT_TRANSLATED -HP:0031103 Decreased plasma AMH NOT_TRANSLATED -HP:0031107 Thin fibula NOT_TRANSLATED -HP:0031109 Lactation incapacity NOT_TRANSLATED -HP:0031110 Twin to twin transfusion syndrome NOT_TRANSLATED -HP:0031111 Skin hamartoma NOT_TRANSLATED -HP:0031130 Impaired Ca ionophore-induced platelet aggregation NOT_TRANSLATED -HP:0031130 Impaired Ca2+ ionophore-induced platelet aggregation NOT_TRANSLATED -HP:0031135 Physical trauma triggered symptoms NOT_TRANSLATED -HP:0031141 Hyperechogenic liver NOT_TRANSLATED -HP:0031143 Hypoechogenic liver NOT_TRANSLATED -HP:0031150 VMA NOT_TRANSLATED -HP:0031151 VMT NOT_TRANSLATED -HP:0031152 FTMH NOT_TRANSLATED -HP:0031153 Membranous anomaly NOT_TRANSLATED -HP:0031153 Membranous vitreous NOT_TRANSLATED -HP:0031153 Membranous vitreous phenotype NOT_TRANSLATED -HP:0031155 Increased Arden ratio of EOG NOT_TRANSLATED -HP:0031157 Caroticocavernous fistula NOT_TRANSLATED -HP:0031163 Low femur bone density NOT_TRANSLATED -HP:0031164 Growth resumption lines NOT_TRANSLATED -HP:0031164 Harris lines NOT_TRANSLATED -HP:0031165 Multifocal onset seizures NOT_TRANSLATED -HP:0031166 Myokymia orbicularis NOT_TRANSLATED -HP:0031166 Orbicularis myokymia NOT_TRANSLATED -HP:0031167 Potassium-rich food triggered symptoms NOT_TRANSLATED -HP:0031167 Triggered by ingestion of K-rich food NOT_TRANSLATED -HP:0031170 Female foetal virilization NOT_TRANSLATED -HP:0031171 Spurring of femur NOT_TRANSLATED -HP:0031173 Spurring of tibiae NOT_TRANSLATED -HP:0031179 Meningism NOT_TRANSLATED -HP:0031180 Erythema chronicum migrans NOT_TRANSLATED -HP:0031185 Increased NT-proBNP level NOT_TRANSLATED -HP:0031187 Abnormality of circulating pregnenolone level NOT_TRANSLATED -HP:0031188 Genital oedema NOT_TRANSLATED -HP:0031190 Superficial perivascular inflammatory infiltrate NOT_TRANSLATED -HP:0031191 Deep perivascular inflammatory infiltrate NOT_TRANSLATED -HP:0031197 Cellular casts NOT_TRANSLATED -HP:0031199 Acellular casts NOT_TRANSLATED -HP:0031205 Reduced leukocyte acid lipase activity NOT_TRANSLATED -HP:0031207 Hemangioma of the liver NOT_TRANSLATED -HP:0031207 Liver hemangioma NOT_TRANSLATED -HP:0031208 Increased pituitary glycoprotein alpha subunit level NOT_TRANSLATED -HP:0031208 Increased pituitary glycoprotein polypeptide alpha subunit level NOT_TRANSLATED -HP:0031209 Decreased lipoprotein lipase level NOT_TRANSLATED -HP:0031211 Elevated cholesteryl ester level NOT_TRANSLATED -HP:0031211 Increased cholesterol esters NOT_TRANSLATED -HP:0031211 Increased cholesteryl esters NOT_TRANSLATED -HP:0031213 Elevated circulating 17-OHP NOT_TRANSLATED -HP:0031214 Decreased circulating dehydroepiandrosterone level NOT_TRANSLATED -HP:0031215 Decreased circulating dehydroepiandrosterone-sulfate level NOT_TRANSLATED -HP:0031218 Inappropriate ADH secretion NOT_TRANSLATED -HP:0031218 SIADH NOT_TRANSLATED -HP:0031218 Syndrome of inappropriate antidiuretic hormone secretion NOT_TRANSLATED -HP:0031222 Thyroxine-binding globulin high in blood NOT_TRANSLATED -HP:0031225 Intrapulmonary shunting NOT_TRANSLATED -HP:0031233 Squaring of the inferior scapulae NOT_TRANSLATED -HP:0031233 Squaring of the scapula NOT_TRANSLATED -HP:0031237 Internally nucleated skeletal muscle fibres NOT_TRANSLATED -HP:0031238 Necklace skeletal muscle fibres NOT_TRANSLATED -HP:0031242 Decreased circulating chylomicron levels NOT_TRANSLATED -HP:0031242 Hypochylomicronemia NOT_TRANSLATED -HP:0031243 Decreased circulating very-low-density lipoprotein levels NOT_TRANSLATED -HP:0031244 Edematous lip NOT_TRANSLATED -HP:0031244 Swelling of the lip NOT_TRANSLATED -HP:0031245 Cough with mucus production NOT_TRANSLATED -HP:0031245 Wet cough NOT_TRANSLATED -HP:0031246 Dry cough NOT_TRANSLATED -HP:0031246 Dry coughing NOT_TRANSLATED -HP:0031248 Itchy palm NOT_TRANSLATED -HP:0031249 Altered sense of taste NOT_TRANSLATED -HP:0031249 Dysgeusia NOT_TRANSLATED -HP:0031249 Metallic taste NOT_TRANSLATED -HP:0031249 Metallic taste in mouth NOT_TRANSLATED -HP:0031259 Inflammed ovary NOT_TRANSLATED -HP:0031264 Abnormal morphology of Bowman capsule NOT_TRANSLATED -HP:0031264 Abnormal morphology of Bowman's capsule NOT_TRANSLATED -HP:0031264 Abnormal renal glomerular capsule morphology NOT_TRANSLATED -HP:0031265 Abnormal podocyte morphology NOT_TRANSLATED -HP:0031265 Abnormal visceral epithelial cell morphology NOT_TRANSLATED -HP:0031266 Loss of primary podocyte processes NOT_TRANSLATED -HP:0031270 Poor CD25 upregulation upon TCR activation NOT_TRANSLATED -HP:0031270 Reduced IL2RA upregulation upon TCR activation NOT_TRANSLATED -HP:0031279 Abnormal response to GnRH stimulation test NOT_TRANSLATED -HP:0031287 Basal cell papilloma NOT_TRANSLATED -HP:0031287 Seborrheic verruca NOT_TRANSLATED -HP:0031287 Senile wart NOT_TRANSLATED -HP:0031292 Skin abscess NOT_TRANSLATED -HP:0031295 Enlarged heart left atrium NOT_TRANSLATED -HP:0031298 Coronary sinus dilatation NOT_TRANSLATED -HP:0031298 Enlarged coronary sinus NOT_TRANSLATED -HP:0031301 Peripheral artery calcification NOT_TRANSLATED -HP:0031302 Lower extremity peripheral artery calcification NOT_TRANSLATED -HP:0031317 Fatty infiltration of cardiac ventricle NOT_TRANSLATED -HP:0031317 Intramyocardial fat infiltration NOT_TRANSLATED -HP:0031318 Myocardial fiber disarray NOT_TRANSLATED -HP:0031318 Myocardial fibre disarray NOT_TRANSLATED -HP:0031319 Myocyte cellular hypertrophy NOT_TRANSLATED -HP:0031327 TTR cardiac amyloidosis NOT_TRANSLATED -HP:0031331 Abnormal cardiac muscle cell morphology NOT_TRANSLATED -HP:0031333 Cardiac biopsy: myocyte disarray NOT_TRANSLATED -HP:0031333 Cardiomyocyte disarray NOT_TRANSLATED -HP:0031333 Myocardial sarcomere disarray NOT_TRANSLATED -HP:0031348 D-loop transposition of the great arteries NOT_TRANSLATED -HP:0031348 D-TGA NOT_TRANSLATED -HP:0031349 L-TGA NOT_TRANSLATED -HP:0031351 Calcified amorphous tumour of the heart NOT_TRANSLATED -HP:0031352 Chest distress NOT_TRANSLATED -HP:0031352 Tightness in chest NOT_TRANSLATED -HP:0031352 Tightness of chest NOT_TRANSLATED -HP:0031353 Fluid behind eardrum NOT_TRANSLATED -HP:0031354 Difficulty falling asleep NOT_TRANSLATED -HP:0031355 Waking up several times during the night NOT_TRANSLATED -HP:0031356 Late insomnia NOT_TRANSLATED -HP:0031364 Ecchymoses NOT_TRANSLATED -HP:0031365 Flat purpura NOT_TRANSLATED -HP:0031367 Striated metaphysis NOT_TRANSLATED -HP:0031369 Perforation of the colon NOT_TRANSLATED -HP:0031373 Tongue stiffness NOT_TRANSLATED -HP:0031381 Reduced lymphocyte proliferation to mitogen NOT_TRANSLATED -HP:0031382 Defective lymphocyte proliferation to anti-CD3 NOT_TRANSLATED -HP:0031382 Defective proliferation of lymphocytes following anti-CD3 stimulation NOT_TRANSLATED -HP:0031392 Abnormal proportion of CD4+ T cells NOT_TRANSLATED -HP:0031392 Abnormal proportion of CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0031393 Abnormal proportion of CD8+ T cells NOT_TRANSLATED -HP:0031393 Abnormal proportion of CD8-positive, alpha-beta T cells NOT_TRANSLATED -HP:0031396 Abnormal naive T cell proportion NOT_TRANSLATED -HP:0031396 Abnormal proportion of naive thymus-derived, alpha-beta T cells NOT_TRANSLATED -HP:0031397 Decreased proportion of naive thymus-derived, alpha-beta T cells NOT_TRANSLATED -HP:0031397 Reduced proportion of naive T cells NOT_TRANSLATED -HP:0031398 Elevated proportion of naive T cells NOT_TRANSLATED -HP:0031398 Increased proportion of naive thymus-derived, alpha-beta T cells NOT_TRANSLATED -HP:0031399 Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution NOT_TRANSLATED -HP:0031399 Abnormal DN Treg distribution NOT_TRANSLATED -HP:0031399 Abnormal Double negative Treg distribution NOT_TRANSLATED -HP:0031399 Abnormal double-negative alpha-beta regulatory T cell distribution NOT_TRANSLATED -HP:0031402 Antigen-specific T cell proliferation defect NOT_TRANSLATED -HP:0031402 Impaired activated T cell proliferation NOT_TRANSLATED -HP:0031402 Impaired Ag-specific T cell proliferation NOT_TRANSLATED -HP:0031402 Impaired cellular adaptive immune response NOT_TRANSLATED -HP:0031403 Pathogen-specific CD8 cytoxicity defect NOT_TRANSLATED -HP:0031404 Impaired adaptive immune response NOT_TRANSLATED -HP:0031406 Abnormal cytokine signalling NOT_TRANSLATED -HP:0031407 Cytokine signaling defect NOT_TRANSLATED -HP:0031407 Cytokine signalling defect NOT_TRANSLATED -HP:0031407 Impaired cytokine signalling NOT_TRANSLATED -HP:0031410 Abnormal distribution of CD56 bright/dim NK cells NOT_TRANSLATED -HP:0031414 High serum 25-hydroxycholecalciferol NOT_TRANSLATED -HP:0031414 High serum calcidiol NOT_TRANSLATED -HP:0031415 High serum 1,25-dihydroxycholecalciferol NOT_TRANSLATED -HP:0031415 High serum 1,25-dihydroxyvitamin D3 NOT_TRANSLATED -HP:0031415 Increased serum 1,25-dihydroxyvitamin D3 NOT_TRANSLATED -HP:0031415 Increased serum calcitriol NOT_TRANSLATED -HP:0031417 Nasal Discharge NOT_TRANSLATED -HP:0031417 Runny Nose NOT_TRANSLATED -HP:0031418 Increased BMI NOT_TRANSLATED -HP:0031419 Reduced androgen-binding protein level NOT_TRANSLATED -HP:0031420 Laser pointer-induced maculopathy NOT_TRANSLATED -HP:0031420 Laser pointer-induced retinopathy NOT_TRANSLATED -HP:0031420 Light induced retinopathy NOT_TRANSLATED -HP:0031420 Photic retinopathy NOT_TRANSLATED -HP:0031420 Small yellow foveal lesion with surrounding grey zone NOT_TRANSLATED -HP:0031420 Solar retinitis NOT_TRANSLATED -HP:0031420 Solar retinopathy NOT_TRANSLATED -HP:0031422 Abnormal morphology of the cerebellar cortex NOT_TRANSLATED -HP:0031424 Abnormal circulating beta-C-terminal telopeptide level NOT_TRANSLATED -HP:0031424 Abnormal circulating beta-CrossLaps level NOT_TRANSLATED -HP:0031424 Abnormal circulating beta-CTx level NOT_TRANSLATED -HP:0031425 Increased circulating beta-C-terminal telopeptide level NOT_TRANSLATED -HP:0031425 Increased circulating beta-CrossLaps level NOT_TRANSLATED -HP:0031425 Increased circulating beta-CTx level NOT_TRANSLATED -HP:0031426 Decreased circulating beta-C-terminal telopeptide level NOT_TRANSLATED -HP:0031426 Decreased circulating beta-CrossLaps level NOT_TRANSLATED -HP:0031426 Decreased circulating beta-CTx level NOT_TRANSLATED -HP:0031433 Unaware of others' emotions NOT_TRANSLATED -HP:0031437 Exposure during pregnancy NOT_TRANSLATED -HP:0031461 IM Myxoma NOT_TRANSLATED -HP:0031475 Nonconvulsive status epilepticus NOT_TRANSLATED -HP:0031485 Periosteal reaction NOT_TRANSLATED -HP:0031488 Atypical connection between arteries and veins NOT_TRANSLATED -HP:0031491 CSWS NOT_TRANSLATED -HP:0031491 Electrical status epilepticus during slow-wave sleep NOT_TRANSLATED -HP:0031494 Mucinous neoplasm of the ovary NOT_TRANSLATED -HP:0031494 Ovarian mucinous tumour NOT_TRANSLATED -HP:0031502 Trophoblastic tumour NOT_TRANSLATED -HP:0031504 Frothy urine NOT_TRANSLATED -HP:0031505 Abnormal circulating T4 level NOT_TRANSLATED -HP:0031505 Abnormal circulating thyroxine level NOT_TRANSLATED -HP:0031506 Increased circulating T4 level NOT_TRANSLATED -HP:0031506 Increased circulating thyroxine level NOT_TRANSLATED -HP:0031507 Decreased circulating T4 level NOT_TRANSLATED -HP:0031507 Decreased circulating thyroxine level NOT_TRANSLATED -HP:0031507 Reduced T4 plasma level NOT_TRANSLATED -HP:0031508 Abnormal thyroid hormone level NOT_TRANSLATED -HP:0031516 Metaphase I oocyte meiotic arrest NOT_TRANSLATED -HP:0031516 Oocyte meiotic arrest at metaphase I NOT_TRANSLATED -HP:0031521 Clear cell adenocarcinoma of the vagina NOT_TRANSLATED -HP:0031522 Clear cell carcinoma of cervix NOT_TRANSLATED -HP:0031523 Parotid oncocytoma NOT_TRANSLATED -HP:0031526 Sub-retinal fluid NOT_TRANSLATED -HP:0031527 Intra-retinal fluid NOT_TRANSLATED -HP:0031542 Myelin-like whorls in vacuolated fibres NOT_TRANSLATED -HP:0031544 Elevated circulating O-propionylcarnitine concentration NOT_TRANSLATED -HP:0031544 Elevated plasma palmitoleylcarnitine, C16:1 NOT_TRANSLATED -HP:0031544 Elevated plasma propionylcarnitine, C3:0 NOT_TRANSLATED -HP:0031544 Elevated propionylcarnitine level NOT_TRANSLATED -HP:0031546 Abnormality of cardiac conduction NOT_TRANSLATED -HP:0031546 Abnormality of cardiac conduction system NOT_TRANSLATED -HP:0031546 Cardiac conduction abnormalities NOT_TRANSLATED -HP:0031546 Cardiac conduction defects NOT_TRANSLATED -HP:0031546 Heart conduction disorder NOT_TRANSLATED -HP:0031548 Basal cell hamartoma with follicular differentiation NOT_TRANSLATED -HP:0031548 Follicular infundibulum tumour NOT_TRANSLATED -HP:0031549 Skin pseudolymphoma NOT_TRANSLATED -HP:0031549 Spiegler-Fendt sarcoid NOT_TRANSLATED -HP:0031569 Absent aortic valve NOT_TRANSLATED -HP:0031570 Tessier facial cleft number 0 NOT_TRANSLATED -HP:0031578 Tessier facial cleft number 6 NOT_TRANSLATED -HP:0031579 Tessier cleft number 7 NOT_TRANSLATED -HP:0031579 Tessier facial cleft number 7 NOT_TRANSLATED -HP:0031580 Tessier facial cleft number 8 NOT_TRANSLATED -HP:0031586 Tessier facial cleft number 14 NOT_TRANSLATED -HP:0031588 Unhappy demeanour NOT_TRANSLATED -HP:0031589 Suicidality NOT_TRANSLATED -HP:0031590 Eye strain NOT_TRANSLATED -HP:0031591 Enlarged inferior vena cava valve NOT_TRANSLATED -HP:0031591 Giant Eustachian valve NOT_TRANSLATED -HP:0031594 PR interval depression NOT_TRANSLATED -HP:0031594 PTa depression NOT_TRANSLATED -HP:0031597 PR interval elevation NOT_TRANSLATED -HP:0031597 PTa elevation NOT_TRANSLATED -HP:0031602 Abnormal mucociliary transport NOT_TRANSLATED -HP:0031603 Abnormal saccharine test NOT_TRANSLATED -HP:0031604 Bony carotid canal agenesis NOT_TRANSLATED -HP:0031610 Multiple shoulder dislocation NOT_TRANSLATED -HP:0031611 Sub-ILM haemorrhage NOT_TRANSLATED -HP:0031611 Sub-ILM hemorrhage NOT_TRANSLATED -HP:0031611 Sub-inner limiting membrane haemorrhage NOT_TRANSLATED -HP:0031622 Brown syndrome NOT_TRANSLATED -HP:0031623 Drooping brow NOT_TRANSLATED -HP:0031626 Atresia of coronary ostium NOT_TRANSLATED -HP:0031628 Sudden cardiac arrest NOT_TRANSLATED -HP:0031629 Clumsy tandem walking NOT_TRANSLATED -HP:0031635 Anomalous origin of the left common carotid artery from the brachiocephalic trunk NOT_TRANSLATED -HP:0031639 Absent LMCA NOT_TRANSLATED -HP:0031658 S3 NOT_TRANSLATED -HP:0031658 Ventricular gallop NOT_TRANSLATED -HP:0031659 Atrial gallop NOT_TRANSLATED -HP:0031659 Presystolic gallop NOT_TRANSLATED -HP:0031659 S4 NOT_TRANSLATED -HP:0031662 Fixed splitting of S2 NOT_TRANSLATED -HP:0031663 Paradoxical splitting of S2 NOT_TRANSLATED -HP:0031663 Reversed splitting of S2 NOT_TRANSLATED -HP:0031663 Reversed splitting of the second heart sound NOT_TRANSLATED -HP:0031673 Orthodromic AVRT NOT_TRANSLATED -HP:0031674 Antidromic AVRT NOT_TRANSLATED -HP:0031685 Abnormal faeces composition NOT_TRANSLATED -HP:0031685 Abnormal fecal test result NOT_TRANSLATED -HP:0031685 Abnormal feces composition NOT_TRANSLATED -HP:0031687 Accentuation of the pulmonic component of the second heart sound NOT_TRANSLATED -HP:0031689 Dysmegakaryopoiesis NOT_TRANSLATED -HP:0031693 Fulminant infectious mononucleosis NOT_TRANSLATED -HP:0031693 Severe EBV infection NOT_TRANSLATED -HP:0031702 Anterior chamber RBCs NOT_TRANSLATED -HP:0031717 Alternating strabismus NOT_TRANSLATED -HP:0031721 Secondary exotropia NOT_TRANSLATED -HP:0031722 Non-accomodative convergence excess esotropia NOT_TRANSLATED -HP:0031723 Sensory esotropia NOT_TRANSLATED -HP:0031728 Mild hyperopia NOT_TRANSLATED -HP:0031729 Moderate hyperopia NOT_TRANSLATED -HP:0031759 Basic (constant) esotropia NOT_TRANSLATED -HP:0031761 Infantile (constant) esotropia NOT_TRANSLATED -HP:0031762 Divergence insufficiency NOT_TRANSLATED -HP:0031765 Constant esotropia with an accommodative component NOT_TRANSLATED -HP:0031765 Constant esotropia with an accommodative element NOT_TRANSLATED -HP:0031775 Paralytic strabismus NOT_TRANSLATED -HP:0031786 Cogan eyelid twitch NOT_TRANSLATED -HP:0031786 Eyelid twitch NOT_TRANSLATED -HP:0031786 Lid twitch NOT_TRANSLATED -HP:0031793 Elevated circulating leptin level NOT_TRANSLATED -HP:0031796 Intermittent NOT_TRANSLATED -HP:0031797 Natural history of disease NOT_TRANSLATED -HP:0031798 Elevated ApoB level NOT_TRANSLATED -HP:0031798 Elevated apolipoprotein B level NOT_TRANSLATED -HP:0031799 Decreased apo-AI level NOT_TRANSLATED -HP:0031799 Decreased apoA-I level NOT_TRANSLATED -HP:0031799 Decreased apolipoprotein AI level NOT_TRANSLATED -HP:0031800 Elevated Apo-AII level NOT_TRANSLATED -HP:0031800 Elevated apoA-II level NOT_TRANSLATED -HP:0031800 Elevated APOAII level NOT_TRANSLATED -HP:0031800 Elevated apolipoprotein A-II level NOT_TRANSLATED -HP:0031803 Fundus haemorrhage NOT_TRANSLATED -HP:0031804 Premacular haemorrhage NOT_TRANSLATED -HP:0031805 Intraretinal haemorrhage NOT_TRANSLATED -HP:0031807 Basophilia NOT_TRANSLATED -HP:0031809 Archibald's metacarpal sign NOT_TRANSLATED -HP:0031809 Knuckle dimple NOT_TRANSLATED -HP:0031813 Eosinophilic colitis NOT_TRANSLATED -HP:0031813 Eosinophilic infiltration in the colon NOT_TRANSLATED -HP:0031817 Decreased circulating PTH level NOT_TRANSLATED -HP:0031817 Decreased serum parathyroid hormone NOT_TRANSLATED -HP:0031817 Decreased serum parathyroid hormone level NOT_TRANSLATED -HP:0031817 Decreased serum PTH NOT_TRANSLATED -HP:0031819 Increased waist-hip ratio NOT_TRANSLATED -HP:0031819 Increased waist-to-hip ratio NOT_TRANSLATED -HP:0031819 Increased WHR NOT_TRANSLATED -HP:0031820 Decreased waist-hip ratio NOT_TRANSLATED -HP:0031820 Decreased waist-to-hip ratio NOT_TRANSLATED -HP:0031820 Decreased WHR NOT_TRANSLATED -HP:0031821 Abnormal 6-hydroxypurine phosphoribosyltransferase level NOT_TRANSLATED -HP:0031821 Abnormal GMP pyrophosphorylase level NOT_TRANSLATED -HP:0031821 Abnormal GPRT level NOT_TRANSLATED -HP:0031822 Elevated 6-hydroxypurine phosphoribosyltransferase level NOT_TRANSLATED -HP:0031822 Elevated 6-mercaptopurine phosphoribosyltransferase level NOT_TRANSLATED -HP:0031822 Elevated GMP pyrophosphorylase level NOT_TRANSLATED -HP:0031823 Reduced 6-hydroxypurine phosphoribosyltransferase level NOT_TRANSLATED -HP:0031823 Reduced 6-mercaptopurine phosphoribosyltransferase level NOT_TRANSLATED -HP:0031823 Reduced GMP pyrophosphorylase level NOT_TRANSLATED -HP:0031825 Freezing gait NOT_TRANSLATED -HP:0031827 Abdominal reflex absent NOT_TRANSLATED -HP:0031829 Absent cremasteric reflex NOT_TRANSLATED -HP:0031835 Abnormal superoxide:superoxide oxidoreductase activity NOT_TRANSLATED -HP:0031836 Increased superoxide:superoxide oxidoreductase activity NOT_TRANSLATED -HP:0031837 Decreased superoxide:superoxide oxidoreductase activity NOT_TRANSLATED -HP:0031842 Lymphangiectasia NOT_TRANSLATED -HP:0031843 Mental slowness NOT_TRANSLATED -HP:0031843 Slowed thinking NOT_TRANSLATED -HP:0031843 Slowed thoughts NOT_TRANSLATED -HP:0031843 Slowness of thought NOT_TRANSLATED -HP:0031846 Femoral fracture NOT_TRANSLATED -HP:0031849 Inverted sleep-wake cycle NOT_TRANSLATED -HP:0031850 Abnormal Hct NOT_TRANSLATED -HP:0031851 Low hematocrit NOT_TRANSLATED -HP:0031851 Reduced Hct NOT_TRANSLATED -HP:0031854 Left-sided isomerism NOT_TRANSLATED -HP:0031855 Right-sided isomerism NOT_TRANSLATED -HP:0031857 Ineffective esophageal motility NOT_TRANSLATED -HP:0031861 Reduced heart rate variability NOT_TRANSLATED -HP:0031864 Bacteria in blood culture NOT_TRANSLATED -HP:0031865 Abnormal hepatic physiology NOT_TRANSLATED -HP:0031869 Recurrent joint dislocations NOT_TRANSLATED -HP:0031873 Early sleep onset NOT_TRANSLATED -HP:0031874 Late sleep onset NOT_TRANSLATED -HP:0031880 Lid laxity NOT_TRANSLATED -HP:0031882 Agyria diffuse NOT_TRANSLATED -HP:0031884 Abnormal CSF glucose level NOT_TRANSLATED -HP:0031885 Increased CSF glucose NOT_TRANSLATED -HP:0031886 Abnormal LDL-C concentration NOT_TRANSLATED -HP:0031886 Abnormal LDL-C level NOT_TRANSLATED -HP:0031886 Abnormal LDLc concentration NOT_TRANSLATED -HP:0031898 Increased rouleaux formation NOT_TRANSLATED -HP:0031899 Abnormal factor V activity NOT_TRANSLATED -HP:0031903 Abnormal serum selenium concentration NOT_TRANSLATED -HP:0031904 Abnormal CH50 NOT_TRANSLATED -HP:0031907 AMA-M2 positive NOT_TRANSLATED -HP:0031907 Anti-pyruvate dehydrogenase antibody positivity NOT_TRANSLATED -HP:0031912 Trigeminal anaesthesia NOT_TRANSLATED -HP:0031918 Ovarian sex cord-stromal tumour NOT_TRANSLATED -HP:0031919 Juvenile type ovarian granulosa cell tumour NOT_TRANSLATED -HP:0031919 Ovarian juvenile granulosa cell tumor NOT_TRANSLATED -HP:0031919 Ovarian juvenile granulosa cell tumour NOT_TRANSLATED -HP:0031920 Malignant ovarian granulosa cell tumour NOT_TRANSLATED -HP:0031921 Calf muscle pain NOT_TRANSLATED -HP:0031921 Calf myalgia NOT_TRANSLATED -HP:0031922 Accessory renal artery NOT_TRANSLATED -HP:0031922 Double renal artery NOT_TRANSLATED -HP:0031923 Haematocolpos NOT_TRANSLATED -HP:0031930 Pineocytomatous rosette NOT_TRANSLATED -HP:0031932 Left ventricle to aorta tunnel NOT_TRANSLATED -HP:0031933 Right ventricle to aorta tunnel NOT_TRANSLATED -HP:0031936 Delayed walking NOT_TRANSLATED -HP:0031937 Tachylogia NOT_TRANSLATED -HP:0031938 Abnormal conus medullaris morphology NOT_TRANSLATED -HP:0031942 CAPV NOT_TRANSLATED -HP:0031942 Missing portal vein NOT_TRANSLATED -HP:0031944 Pleural incrassation NOT_TRANSLATED -HP:0031945 Elevated N,N-dimethylglycine level NOT_TRANSLATED -HP:0031947 Jerky movements of the tongue NOT_TRANSLATED -HP:0031949 Recurrent bacterial URI NOT_TRANSLATED -HP:0031951 Sleep seizures NOT_TRANSLATED -HP:0031953 Senile gait NOT_TRANSLATED -HP:0031955 Limp NOT_TRANSLATED -HP:0031956 Aspartate aminotransferase increased NOT_TRANSLATED -HP:0031956 Elevated serum aspartate aminotransferase NOT_TRANSLATED -HP:0031956 Elevated serum AST NOT_TRANSLATED -HP:0031956 Elevated serum glutamic oxaloacetic transaminase NOT_TRANSLATED -HP:0031957 Wernicke-Mann gait NOT_TRANSLATED -HP:0031964 Alanine aminotransferase increased NOT_TRANSLATED -HP:0031964 Elevated serum alanine aminotransferase NOT_TRANSLATED -HP:0031964 Elevated serum ALT NOT_TRANSLATED -HP:0031964 Elevated serum glutamic-pyruvic transaminase NOT_TRANSLATED -HP:0031965 Increased red blood cell distribution width NOT_TRANSLATED -HP:0031967 Turbid urine NOT_TRANSLATED -HP:0031969 Reduced BUN NOT_TRANSLATED -HP:0031970 Abnormal BUN concentration NOT_TRANSLATED -HP:0031983 Abnormal chest radiograph finding (lung) NOT_TRANSLATED -HP:0031987 Concentration problems NOT_TRANSLATED -HP:0031987 Lack of concentration NOT_TRANSLATED -HP:0031987 Poor concentration NOT_TRANSLATED -HP:0031993 Hoffmann's sign NOT_TRANSLATED -HP:0032007 Maceration of the skin NOT_TRANSLATED -HP:0032007 Skin maceration NOT_TRANSLATED -HP:0032008 Fat embolism NOT_TRANSLATED -HP:0032009 Infantile (constant) exotropia NOT_TRANSLATED -HP:0032010 Basic (constant) exotropia NOT_TRANSLATED -HP:0032016 Abnormal sputum morphology NOT_TRANSLATED -HP:0032018 Mononeuritis multiplex NOT_TRANSLATED -HP:0032019 Eosinophilic infiltration of skeletal muscle NOT_TRANSLATED -HP:0032020 Eosinophilic cystitis NOT_TRANSLATED -HP:0032021 Eosinophilic hepatitis NOT_TRANSLATED -HP:0032022 Eosinophilic dermatitis NOT_TRANSLATED -HP:0032023 Eosinophilic cholecystitis NOT_TRANSLATED -HP:0032036 Abnormal contrast sensitivity NOT_TRANSLATED -HP:0032037 Mild reduction in visual acuity NOT_TRANSLATED -HP:0032037 Mild vision loss NOT_TRANSLATED -HP:0032037 Mild visual loss NOT_TRANSLATED -HP:0032043 Painful swallowing NOT_TRANSLATED -HP:0032060 Angiolymphoid hyperplasia with eosinophilia NOT_TRANSLATED -HP:0032064 Eosinophilic enteritis NOT_TRANSLATED -HP:0032064 Eosinophilic gastroenteritis NOT_TRANSLATED -HP:0032064 Eosinophilic gastrointestinal disease NOT_TRANSLATED -HP:0032064 Eosinophilic gastrointestinal disorders NOT_TRANSLATED -HP:0032064 GI eosinophilia NOT_TRANSLATED -HP:0032065 Abnormal serum HCO3 concentration NOT_TRANSLATED -HP:0032066 Decreased serum HCO3 concentration NOT_TRANSLATED -HP:0032067 Elevated serum HCO3 concentration NOT_TRANSLATED -HP:0032069 Anti-thyroid globulin antibody positivity NOT_TRANSLATED -HP:0032069 TgAbs NOT_TRANSLATED -HP:0032071 Eosinophilic pulmonary infiltration NOT_TRANSLATED -HP:0032071 Pulmonary eosinophilia NOT_TRANSLATED -HP:0032071 Pulmonary eosinophilic infiltrate NOT_TRANSLATED -HP:0032071 Pulmonary eosinophilic infiltration NOT_TRANSLATED -HP:0032072 Baker's cyst NOT_TRANSLATED -HP:0032077 Meatal stenosis NOT_TRANSLATED -HP:0032077 Meatus stenosis NOT_TRANSLATED -HP:0032083 Aortic elastic fibre fragmentation NOT_TRANSLATED -HP:0032084 Aortic elastic fibre thinning NOT_TRANSLATED -HP:0032085 Aortic elastic fibre disorganisation NOT_TRANSLATED -HP:0032088 Aortic smooth muscle cell disorganisation NOT_TRANSLATED -HP:0032094 Increased serum surfactant protein level NOT_TRANSLATED -HP:0032097 Increased blood manganese concentration NOT_TRANSLATED -HP:0032104 Saccadic oscillations NOT_TRANSLATED -HP:0032105 Macrosaccadic oscillation NOT_TRANSLATED -HP:0032106 Scleral icterus NOT_TRANSLATED -HP:0032106 Yellow conjunctiva NOT_TRANSLATED -HP:0032106 Yellow sclera NOT_TRANSLATED -HP:0032106 Yellowing of the whites of the eyes NOT_TRANSLATED -HP:0032108 Mild reduction in contrast sensitivity NOT_TRANSLATED -HP:0032109 Moderate reduction in contrast sensitivity NOT_TRANSLATED -HP:0032113 Semidominant mode of inheritance NOT_TRANSLATED -HP:0032121 Froment thumb sign NOT_TRANSLATED -HP:0032124 Abnormal proportion of non-class-switched memory B cells NOT_TRANSLATED -HP:0032125 Elevated proportion of unswitched memory B cells NOT_TRANSLATED -HP:0032125 Increased proportion of non-class-switched memory B cells NOT_TRANSLATED -HP:0032126 Decreased proportion of non-class-switched memory B cells NOT_TRANSLATED -HP:0032126 Reduced proportion of unswitched memory B cells NOT_TRANSLATED -HP:0032131 Uterine cervix dysplasia NOT_TRANSLATED -HP:0032134 Chronic decreased total IgG in blood NOT_TRANSLATED -HP:0032135 Decreased IgG subclass level in blood NOT_TRANSLATED -HP:0032136 Decreased IgG1 level in blood NOT_TRANSLATED -HP:0032137 Decreased IgG3 level in blood NOT_TRANSLATED -HP:0032138 Decreased IgG4 level in blood NOT_TRANSLATED -HP:0032139 Decreased natural antibody to blood group agents NOT_TRANSLATED -HP:0032139 Partial absence of isohemagglutinins NOT_TRANSLATED -HP:0032142 Foetor hepaticus NOT_TRANSLATED -HP:0032144 Coffee grounds emesis NOT_TRANSLATED -HP:0032144 Coffee grounds vomiting NOT_TRANSLATED -HP:0032145 Atrophy of sural nerve NOT_TRANSLATED -HP:0032146 Haemoglobin C NOT_TRANSLATED -HP:0032146 HbC haemoglobin NOT_TRANSLATED -HP:0032146 Hemoglobin C NOT_TRANSLATED -HP:0032152 Carpet tack sign NOT_TRANSLATED -HP:0032152 Chicken skin NOT_TRANSLATED -HP:0032152 Follicular keratosis NOT_TRANSLATED -HP:0032152 Follicular keratotic plug NOT_TRANSLATED -HP:0032152 Follicular plugging NOT_TRANSLATED -HP:0032152 Hyperkeratosis pilaris NOT_TRANSLATED -HP:0032152 Lichen pilaris NOT_TRANSLATED -HP:0032154 Canker sore NOT_TRANSLATED -HP:0032156 Detached skin NOT_TRANSLATED -HP:0032156 Epidermal detachment NOT_TRANSLATED -HP:0032156 Skin sloughing NOT_TRANSLATED -HP:0032166 Unusual GI infection NOT_TRANSLATED -HP:0032167 C. difficile enteritis NOT_TRANSLATED -HP:0032169 Unusual course of infection NOT_TRANSLATED -HP:0032176 Apical cap NOT_TRANSLATED -HP:0032176 Apical pleural thickening NOT_TRANSLATED -HP:0032178 Flaky paint skin appearance NOT_TRANSLATED -HP:0032179 Abnormal circulating globulin level NOT_TRANSLATED -HP:0032182 Abnormal proportion of CD4+CD29+ cells NOT_TRANSLATED -HP:0032183 Decreased proportion of CD4+CD29+ cells NOT_TRANSLATED -HP:0032184 Increased proportion of CD4+CD29+ cells NOT_TRANSLATED -HP:0032198 Decreased INR NOT_TRANSLATED -HP:0032198 Decreased international normalised ratio NOT_TRANSLATED -HP:0032198 Decreased international normalized ratio NOT_TRANSLATED -HP:0032198 Decreased PT NOT_TRANSLATED -HP:0032199 Abnormal PT NOT_TRANSLATED -HP:0032203 Lymphonodular hyperplasia of the colon NOT_TRANSLATED -HP:0032208 Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine NOT_TRANSLATED -HP:0032208 Increased urine NTx level NOT_TRANSLATED -HP:0032209 Abnormal circulating free T3 level NOT_TRANSLATED -HP:0032209 Abnormal circulating free triiodotyronine concentration NOT_TRANSLATED -HP:0032210 Decreased circulating free triiodothyronine NOT_TRANSLATED -HP:0032218 Decreased proportion of CD4+ cells NOT_TRANSLATED -HP:0032218 Decreased proportion of CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0032218 Reduced proportion of CD4-positive cells NOT_TRANSLATED -HP:0032219 Elevated proportion of CD4-positive T cells NOT_TRANSLATED -HP:0032219 Increased proportion of CD4+ T cells NOT_TRANSLATED -HP:0032219 Increased proportion of CD4-positive, alpha-beta T cells NOT_TRANSLATED -HP:0032222 Serrated polyposis NOT_TRANSLATED -HP:0032229 p-ANCA positivity NOT_TRANSLATED -HP:0032230 Anti-neutrophil cytoplasmic antibody positivity NOT_TRANSLATED -HP:0032232 Increased circulating CK MB isoform NOT_TRANSLATED -HP:0032233 Increased circulating CK BB isoform NOT_TRANSLATED -HP:0032234 Increased circulating CK MM isoform NOT_TRANSLATED -HP:0032239 Increased circulating band form neutrophils NOT_TRANSLATED -HP:0032239 Left shift NOT_TRANSLATED -HP:0032249 Valley fever NOT_TRANSLATED -HP:0032254 Elevated serum copper NOT_TRANSLATED -HP:0032254 Hypercupremia NOT_TRANSLATED -HP:0032262 Pulmonary TB NOT_TRANSLATED -HP:0032263 Increased BP NOT_TRANSLATED -HP:0032264 Presence of anti-N-methyl-D-aspartate Receptor antibody in blood NOT_TRANSLATED -HP:0032264 Presence of anti-NMDAR antibody in blood NOT_TRANSLATED -HP:0032265 Cerebrospinal fluid autoimmune antibody positivity NOT_TRANSLATED -HP:0032266 Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF NOT_TRANSLATED -HP:0032266 Presence of anti-NMDAR antibody in cerebrospinal fluid NOT_TRANSLATED -HP:0032266 Presence of NMDAR antibody in CSF NOT_TRANSLATED -HP:0032271 Extrapulmonary TB NOT_TRANSLATED -HP:0032273 Increased circulating N-acetyl aspartate level NOT_TRANSLATED -HP:0032273 Increased circulating N-acetyl aspartic acid level NOT_TRANSLATED -HP:0032273 Increased circulating N-acetyl-L-aspartic acid level NOT_TRANSLATED -HP:0032273 Increased circulating N-acetylaspartate level NOT_TRANSLATED -HP:0032273 Increased circulating NAA level NOT_TRANSLATED -HP:0032274 Increased N-acetyl aspartate levels in CSF NOT_TRANSLATED -HP:0032274 Increased N-acetyl aspartic acid levels in CSF NOT_TRANSLATED -HP:0032274 Increased N-acetyl-L-aspartic acid levels in CSF NOT_TRANSLATED -HP:0032274 Increased N-acetylaspartate levels in CSF NOT_TRANSLATED -HP:0032274 Increased NAA levels in CSF NOT_TRANSLATED -HP:0032308 Increased circulating procalcitonin level NOT_TRANSLATED -HP:0032326 MRSA infection NOT_TRANSLATED -HP:0032341 Decreased forced vital capacity NOT_TRANSLATED -HP:0032341 Reduced FVC NOT_TRANSLATED -HP:0032342 Reduced FEV1 NOT_TRANSLATED -HP:0032344 Ski-jump toenail NOT_TRANSLATED -HP:0032344 Upturned toenail NOT_TRANSLATED -HP:0032347 Macular amyloidosis NOT_TRANSLATED -HP:0032351 Increased level of phenylalanine in urine NOT_TRANSLATED -HP:0032356 Decreased pre bronchodilator forced vital capacity NOT_TRANSLATED -HP:0032356 Decreased prebronchodilator forced vital capacity NOT_TRANSLATED -HP:0032357 Decreased post bronchodilator forced vital capacity NOT_TRANSLATED -HP:0032357 Decreased postbronchodilator forced vital capacity NOT_TRANSLATED -HP:0032358 Decreased post bronchodilator forced expiratory volume in one second NOT_TRANSLATED -HP:0032358 Decreased postbronchodilator forced expiratory volume in one second NOT_TRANSLATED -HP:0032359 Decreased FEF25-75% NOT_TRANSLATED -HP:0032360 Decreased pre bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED -HP:0032360 Decreased pre-bronchodilator FEF25-75% NOT_TRANSLATED -HP:0032360 Decreased prebronchodilator forced expiratory flow 25-75% NOT_TRANSLATED -HP:0032361 Decreased post bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED -HP:0032361 Decreased post-bronchodilator FEF25-75% NOT_TRANSLATED -HP:0032361 Decreased postbronchodilator forced expiratory flow 25-75% NOT_TRANSLATED -HP:0032367 Abnormal somatotropin level NOT_TRANSLATED -HP:0032371 Hyperisoleucinuria NOT_TRANSLATED -HP:0032371 Isoleucine high in urine NOT_TRANSLATED -HP:0032372 Elevated blast count NOT_TRANSLATED -HP:0032372 Elevated circulating blasts NOT_TRANSLATED -HP:0032372 Increased peripheral myeloblast count NOT_TRANSLATED -HP:0032376 Anti-B2GPI positivity NOT_TRANSLATED -HP:0032377 Increased urinary alpha-1-acid glycoprotein NOT_TRANSLATED -HP:0032379 Sun allergy NOT_TRANSLATED -HP:0032381 Acute vesiculation and crusting and scarring following sun exposure NOT_TRANSLATED -HP:0032382 UPD NOT_TRANSLATED -HP:0032385 Abnormal circulating transferrin level NOT_TRANSLATED -HP:0032386 Elevated transferrin level NOT_TRANSLATED -HP:0032387 Reduced transferrin level NOT_TRANSLATED -HP:0032395 Giant heterotopia NOT_TRANSLATED -HP:0032397 Citrulline high in urine NOT_TRANSLATED -HP:0032403 Increased level of asparagine in urine NOT_TRANSLATED -HP:0032403 Increased urine asparagine level NOT_TRANSLATED -HP:0032405 Increased level of phosphoserine in urine NOT_TRANSLATED -HP:0032408 Breast lump NOT_TRANSLATED -HP:0032410 Bilateral generalised polymicrogyria NOT_TRANSLATED -HP:0032410 Diffuse polymicrogyria NOT_TRANSLATED -HP:0032411 Occipital subcortical band heterotopia NOT_TRANSLATED -HP:0032411 Subcortical band heterotopia posterior predominant NOT_TRANSLATED -HP:0032412 Frontal subcortical band heterotopia NOT_TRANSLATED -HP:0032412 Subcortical band heterotopia anterior predominant NOT_TRANSLATED -HP:0032413 Subcortical band heterotopia diffuse NOT_TRANSLATED -HP:0032414 Hydroxylysine high in urine NOT_TRANSLATED -HP:0032417 Periglomerular fibrotic thickening NOT_TRANSLATED -HP:0032434 Delayed separation of umbilical cord NOT_TRANSLATED -HP:0032435 Omphalitis NOT_TRANSLATED -HP:0032435 Umbilical cord stump infection NOT_TRANSLATED -HP:0032436 Abnormal C-reactive protein level NOT_TRANSLATED -HP:0032437 Reduced C-reactive protein level NOT_TRANSLATED -HP:0032444 s/p organ transplantation NOT_TRANSLATED -HP:0032445 Lung cyst NOT_TRANSLATED -HP:0032446 Pulmonary bullae NOT_TRANSLATED -HP:0032451 Melanotic macule of oral mucosa NOT_TRANSLATED -HP:0032454 Labial melanotic freckle NOT_TRANSLATED -HP:0032458 Medullary cavity obliteration NOT_TRANSLATED -HP:0032458 Narrowing of bone marrow canal NOT_TRANSLATED -HP:0032458 Narrowing of bone medullary canal NOT_TRANSLATED -HP:0032458 Narrowing of the marrow cavity NOT_TRANSLATED -HP:0032463 Decreased plasma fibronectin NOT_TRANSLATED -HP:0032464 Hypoplasia of the ureter NOT_TRANSLATED -HP:0032464 Ureter hypoplasia NOT_TRANSLATED -HP:0032465 Trabecular bladder NOT_TRANSLATED -HP:0032466 Aplastic olfactory bulb NOT_TRANSLATED -HP:0032466 Olfactory bulb aplasia NOT_TRANSLATED -HP:0032467 Maternal medical history NOT_TRANSLATED -HP:0032479 Preimplantation embryonic lethality NOT_TRANSLATED -HP:0032482 Decreased pituitary glycoprotein alpha subunit level NOT_TRANSLATED -HP:0032482 Decreased pituitary glycoprotein polypeptide alpha subunit level NOT_TRANSLATED -HP:0032484 Elevated faecal sodium NOT_TRANSLATED -HP:0032485 Abnormal faecal osmolality NOT_TRANSLATED -HP:0032486 Elevated faecal osmolality NOT_TRANSLATED -HP:0032487 Reduced faecal osmolality NOT_TRANSLATED -HP:0032488 Abnormal faecal pH NOT_TRANSLATED -HP:0032489 Elevated faecal pH NOT_TRANSLATED -HP:0032489 Stool pH high NOT_TRANSLATED -HP:0032490 Decreased faecal pH NOT_TRANSLATED -HP:0032490 Stool pH low NOT_TRANSLATED -HP:0032492 Anti-MOG antibody positivity NOT_TRANSLATED -HP:0032493 Increased immunoreactive trypsinogen NOT_TRANSLATED -HP:0032500 Aggravated by tobacco use NOT_TRANSLATED -HP:0032500 Exacerbated by smoking NOT_TRANSLATED -HP:0032500 Smoking or tobacco use exacerbates symptoms NOT_TRANSLATED -HP:0032501 Contraceptive pills aggravate symptoms NOT_TRANSLATED -HP:0032502 Barbiturates produce worsening NOT_TRANSLATED -HP:0032503 Ethanol reduces manifestations NOT_TRANSLATED -HP:0032504 Barber chair phenomenon NOT_TRANSLATED -HP:0032504 Lhermitte's phenomenon NOT_TRANSLATED -HP:0032507 Fasciculations, labiomental NOT_TRANSLATED -HP:0032514 Double lacrimal puncta NOT_TRANSLATED -HP:0032514 Lacrimal punctum, duplication NOT_TRANSLATED -HP:0032521 Spasmodic upper-body squeeze NOT_TRANSLATED -HP:0032522 Immunosupressive therapy improves condition NOT_TRANSLATED -HP:0032527 Low set umbilicus NOT_TRANSLATED -HP:0032527 Low-set umbilicus NOT_TRANSLATED -HP:0032531 Gamma-aminobutyric acid (GABA) high in CSF NOT_TRANSLATED -HP:0032532 Elevated CSF gamma-hydroxybutyric acid NOT_TRANSLATED -HP:0032532 Elevated CSF GHB levels NOT_TRANSLATED -HP:0032534 Methylxanthines produce worsening NOT_TRANSLATED -HP:0032541 Knuckle pads on dorsal aspect of finger joints NOT_TRANSLATED -HP:0032545 Rigid abdomen NOT_TRANSLATED -HP:0032547 Ocular hypotony NOT_TRANSLATED -HP:0032548 Placental thickness increased NOT_TRANSLATED -HP:0032549 Persistent fencer's reflex NOT_TRANSLATED -HP:0032549 Tonic neck reflex asymmetrical and persistent NOT_TRANSLATED -HP:0032551 Haemorrhoids NOT_TRANSLATED -HP:0032551 Piles NOT_TRANSLATED -HP:0032556 Bluish around mouth NOT_TRANSLATED -HP:0032557 Status post haematopoietic stem cell transplantation NOT_TRANSLATED -HP:0032557 Status post hematopoietic stem cell transplantation NOT_TRANSLATED -HP:0032561 Small-head sperm NOT_TRANSLATED -HP:0032563 Dacryocytes NOT_TRANSLATED -HP:0032563 Tear-drop shaped erythrocytes NOT_TRANSLATED -HP:0032564 Inflammation of the ileum NOT_TRANSLATED -HP:0032567 Urinary lipid excretion NOT_TRANSLATED -HP:0032570 Pontine ischaemic lacunes NOT_TRANSLATED -HP:0032574 Elevated uridine in urine NOT_TRANSLATED -HP:0032575 Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration NOT_TRANSLATED -HP:0032588 Lack of purposeful hand use NOT_TRANSLATED -HP:0032592 Right diaphragmatic hernia NOT_TRANSLATED -HP:0032594 Denuded tubular basement membrane NOT_TRANSLATED -HP:0032605 High N/C ratio of renal tubular epithelial cells NOT_TRANSLATED -HP:0032609 Endocrinization pattern of tubular atrophy NOT_TRANSLATED -HP:0032609 Renal tubular atrophy, endocrine-type NOT_TRANSLATED -HP:0032610 Renal tubulointerstitial mycobacterial organisms NOT_TRANSLATED -HP:0032613 Renal interstitial amyloid NOT_TRANSLATED -HP:0032613 Renal interstitial amyloid deposition NOT_TRANSLATED -HP:0032613 Renal interstitial amyloidosis NOT_TRANSLATED -HP:0032615 Diffusion weighted imaging (DWI) abnormality NOT_TRANSLATED -HP:0032615 Diffusion weighted magnetic resonance imaging (DWI) abnormality NOT_TRANSLATED -HP:0032615 MRI diffusion abnormality of the cerebrum NOT_TRANSLATED -HP:0032616 Renal interstitial immunoglobulin deposition NOT_TRANSLATED -HP:0032617 Renal interstitial haemorrhage NOT_TRANSLATED -HP:0032618 Renal parenchymal necrosis NOT_TRANSLATED -HP:0032620 Renal abscess NOT_TRANSLATED -HP:0032620 Renal parenchymal abcess NOT_TRANSLATED -HP:0032621 Condensed chromatin of renal tubular epithelial cells NOT_TRANSLATED -HP:0032622 Tubular ectasia NOT_TRANSLATED -HP:0032623 Tubular casts NOT_TRANSLATED -HP:0032631 Intratubular haemoglobin casts NOT_TRANSLATED -HP:0032633 Intratubular Tamm-Horsfall (uromodulin) casts NOT_TRANSLATED -HP:0032636 Renal tubulointerstitial viral inclusions NOT_TRANSLATED -HP:0032637 Renal interstitial oedema NOT_TRANSLATED -HP:0032638 Elevated urine mevalonate NOT_TRANSLATED -HP:0032638 Elevated urine mevalonate levels NOT_TRANSLATED -HP:0032638 Elevated urine mevalonic acid NOT_TRANSLATED -HP:0032638 Mevalonate aciduria NOT_TRANSLATED -HP:0032640 Increased C-C motif chemokine ligand 18 concentration NOT_TRANSLATED -HP:0032641 Renal interstitial granulomata NOT_TRANSLATED -HP:0032642 Renal interstitial necrotizing granulomata NOT_TRANSLATED -HP:0032643 Renal interstitial non-necrotizing granulomata NOT_TRANSLATED -HP:0032649 Skew foot NOT_TRANSLATED -HP:0032649 Skew-foot NOT_TRANSLATED -HP:0032650 Elevated CSF glial fibrillary acidic protein level NOT_TRANSLATED -HP:0032651 Elevated CSF chitinase-3-like protein 1 level NOT_TRANSLATED -HP:0032652 Elevated CSF chitotriosidase 1 level NOT_TRANSLATED -HP:0032654 Endothelial dysfunction NOT_TRANSLATED -HP:0032656 Fever-induced status epilepticus NOT_TRANSLATED -HP:0032659 Subtle status epilepticus NOT_TRANSLATED -HP:0032660 Tonic-clonic status epilepticus NOT_TRANSLATED -HP:0032661 Generalised convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Focal onset seizure evolving into bilateral convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Focal-onset seizure evolving into generalised convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Focal-onset seizure evolving into generalized convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Partial onset seizure evolving into convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Partial-onset seizure evolving into convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Secondarily generalised convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Secondarily generalised tonic-clonic status epilepticus NOT_TRANSLATED -HP:0032662 Secondarily generalized convulsive status epilepticus NOT_TRANSLATED -HP:0032662 Secondarily generalized tonic-clonic status epilepticus NOT_TRANSLATED -HP:0032665 Jacksonian status epilepticus NOT_TRANSLATED -HP:0032674 Skin wound NOT_TRANSLATED -HP:0032676 Chronic nonhealing cutaneous wound NOT_TRANSLATED -HP:0032677 Generalised onset motor seizure NOT_TRANSLATED -HP:0032677 Generalised-onset motor seizure NOT_TRANSLATED -HP:0032677 Generalized onset motor seizure NOT_TRANSLATED -HP:0032679 Focal seizure without motor onset NOT_TRANSLATED -HP:0032679 Partial seizure without motor onset NOT_TRANSLATED -HP:0032680 Cognitive aura NOT_TRANSLATED -HP:0032680 Cognitive seizure NOT_TRANSLATED -HP:0032680 Partial cognitive seizure NOT_TRANSLATED -HP:0032682 Focal non-motor aware seizure NOT_TRANSLATED -HP:0032687 Amnestic aura NOT_TRANSLATED -HP:0032687 Amnestic seizure NOT_TRANSLATED -HP:0032712 Focal motor impaired awareness seizure NOT_TRANSLATED -HP:0032713 Focal motor impaired awareness seizure with version NOT_TRANSLATED -HP:0032716 Focal non-motor impaired awareness seizure NOT_TRANSLATED -HP:0032717 Focal motor impaired awareness seizure with dystonia NOT_TRANSLATED -HP:0032719 Focal motor impaired awareness seizure with dysarthria/anarthria NOT_TRANSLATED -HP:0032723 Focal motor aware seizure with dystonia NOT_TRANSLATED -HP:0032732 Focal motor aware seizure with paresis/paralysis NOT_TRANSLATED -HP:0032733 Focal motor aware seizure with dysarthria/anarthria NOT_TRANSLATED -HP:0032740 Focal autonomic seizures without altered responsiveness NOT_TRANSLATED -HP:0032740 Localised autonomic seizures without altered responsiveness NOT_TRANSLATED -HP:0032740 Localized autonomic seizures without altered responsiveness NOT_TRANSLATED -HP:0032740 Partial autonomic seizures without altered responsiveness NOT_TRANSLATED -HP:0032755 Focal autonomic seizure with altered responsiveness NOT_TRANSLATED -HP:0032755 Localised autonomic seizure with altered responsiveness NOT_TRANSLATED -HP:0032755 Localized autonomic seizure with altered responsiveness NOT_TRANSLATED -HP:0032755 Partial autonomic seizure with altered responsiveness NOT_TRANSLATED -HP:0032759 Focal vestibular seizure NOT_TRANSLATED -HP:0032759 Partial vestibular seizure NOT_TRANSLATED -HP:0032759 Vestibular aura NOT_TRANSLATED +subject_id translation_value comment +ID AL oboInOwl:hasExactSynonym@nl +HP:0000003 Multicystic dysplastic kidney NOT_TRANSLATED +HP:0000003 Multicystic kidneys NOT_TRANSLATED +HP:0000003 Multicystic renal dysplasia NOT_TRANSLATED +HP:0000005 Overerving CANDIDATE +HP:0000006 Autosomal dominant NOT_TRANSLATED +HP:0000006 Autosomal dominant form NOT_TRANSLATED +HP:0000006 Autosomal dominant type NOT_TRANSLATED +HP:0000006 monoallelic_autosomal NOT_TRANSLATED +HP:0000007 Autosomal recessive NOT_TRANSLATED +HP:0000007 Autosomal recessive form NOT_TRANSLATED +HP:0000007 Autosomal recessive predisposition NOT_TRANSLATED +HP:0000007 biallelic_autosomal NOT_TRANSLATED +HP:0000008 Abnormality of female internal genitalia NOT_TRANSLATED +HP:0000009 Beperkte blaasfunctie CANDIDATE +HP:0000010 Frequent urinary tract infections NOT_TRANSLATED +HP:0000010 Recurrent UTIs NOT_TRANSLATED +HP:0000010 Repeated bladder infections NOT_TRANSLATED +HP:0000010 Repeated urinary tract infections NOT_TRANSLATED +HP:0000010 Urinary tract infections NOT_TRANSLATED +HP:0000010 Urinary tract infections, recurrent NOT_TRANSLATED +HP:0000011 Lack of bladder control due to nervous system injury NOT_TRANSLATED +HP:0000012 Overactive bladder NOT_TRANSLATED +HP:0000012 Overactive bladder syndrome NOT_TRANSLATED +HP:0000012 Urgency frequency syndrome NOT_TRANSLATED +HP:0000013 Hypoplastic uterus NOT_TRANSLATED +HP:0000013 Rudimentary uterus NOT_TRANSLATED +HP:0000013 Small uterus NOT_TRANSLATED +HP:0000013 Underdeveloped uterus NOT_TRANSLATED +HP:0000015 Bladder diverticula NOT_TRANSLATED +HP:0000016 Increased post-void residual urine volume NOT_TRANSLATED +HP:0000017 Nycturia NOT_TRANSLATED +HP:0000019 Difficulty with flow NOT_TRANSLATED +HP:0000020 Bladder incontinence NOT_TRANSLATED +HP:0000020 Loss of bladder control NOT_TRANSLATED +HP:0000024 Ontsteking van de prostaat CANDIDATE +HP:0000026 Verminderde functie van mannelijke gonaden CANDIDATE +HP:0000027 Ontbreken van zaadcellen in het sperma CANDIDATE +HP:0000028 Cryptorchism NOT_TRANSLATED +HP:0000028 Undescended testes NOT_TRANSLATED +HP:0000028 Undescended testis NOT_TRANSLATED +HP:0000029 Testicular degeneration NOT_TRANSLATED +HP:0000030 Gonadoblastoma, mannelijke CANDIDATE +HP:0000033 Ambiguous genitalia in males NOT_TRANSLATED +HP:0000034 Hydrocele NOT_TRANSLATED +HP:0000034 Testicular hydrocele NOT_TRANSLATED +HP:0000035 Abnormality of the testis NOT_TRANSLATED +HP:0000035 Anomaly of the testes NOT_TRANSLATED +HP:0000036 Abnormality of the penis NOT_TRANSLATED +HP:0000040 Vergrote penis CANDIDATE +HP:0000044 Hypogonadotrophic hypogonadism NOT_TRANSLATED +HP:0000044 Isolated hypogonadotropic hypogonadism NOT_TRANSLATED +HP:0000044 Low gonadotropins (secondary hypogonadism) NOT_TRANSLATED +HP:0000046 Hypoplastisch scrotum CANDIDATE +HP:0000047 Hypospadie CANDIDATE +HP:0000048 Cleft of scrotum NOT_TRANSLATED +HP:0000048 Scrotal cleft NOT_TRANSLATED +HP:0000049 Overriding scrotum NOT_TRANSLATED +HP:0000049 Scrotum surrounds penis NOT_TRANSLATED +HP:0000050 Hypoplastic male genitalia NOT_TRANSLATED +HP:0000050 Small male external genitalia NOT_TRANSLATED +HP:0000050 Underdeveloped male genitalia NOT_TRANSLATED +HP:0000053 Large testicles NOT_TRANSLATED +HP:0000053 Large testis NOT_TRANSLATED +HP:0000054 Short penis NOT_TRANSLATED +HP:0000054 Small penis NOT_TRANSLATED +HP:0000055 Abnormal female external genitalia NOT_TRANSLATED +HP:0000056 Afwijking van de clitoris CANDIDATE +HP:0000058 Abnormality of the labia NOT_TRANSLATED +HP:0000059 Hypoplasia of labia majora NOT_TRANSLATED +HP:0000059 Small labia majora NOT_TRANSLATED +HP:0000059 Underdeveloped vaginal lips NOT_TRANSLATED +HP:0000060 Hypoplastic clitoris NOT_TRANSLATED +HP:0000060 Small clitoris NOT_TRANSLATED +HP:0000060 Underdeveloped clit NOT_TRANSLATED +HP:0000061 Ambiguous genitalia due to virilization NOT_TRANSLATED +HP:0000061 Atypical appearance of female genitals NOT_TRANSLATED +HP:0000062 Ambiguous external genitalia NOT_TRANSLATED +HP:0000062 Ambiguous external genitalia at birth NOT_TRANSLATED +HP:0000062 Intersex genitalia NOT_TRANSLATED +HP:0000063 Fused inner lips NOT_TRANSLATED +HP:0000064 Underdeveloped inner lips NOT_TRANSLATED +HP:0000065 Enlarged vaginal lips NOT_TRANSLATED +HP:0000065 Enlargement of the labia NOT_TRANSLATED +HP:0000065 Enlargement of the vaginal lips NOT_TRANSLATED +HP:0000066 Hypoplastic labia NOT_TRANSLATED +HP:0000066 Underdeveloped labia NOT_TRANSLATED +HP:0000068 Absent urethral opening NOT_TRANSLATED +HP:0000068 Urethral opening absent NOT_TRANSLATED +HP:0000069 Afwijking van de ureters CANDIDATE +HP:0000069 Uretrale afwijkingen CANDIDATE +HP:0000071 Narrowing of the ureter NOT_TRANSLATED +HP:0000072 Dilated ureter NOT_TRANSLATED +HP:0000072 Megaureter NOT_TRANSLATED +HP:0000072 Swelling of ureter NOT_TRANSLATED +HP:0000072 Ureteral dilatation NOT_TRANSLATED +HP:0000072 Uroureter NOT_TRANSLATED +HP:0000072 Wide ureter NOT_TRANSLATED +HP:0000073 Dubbele urineleider CANDIDATE +HP:0000074 Pelviureteric junction obstruction NOT_TRANSLATED +HP:0000074 Ureteropelvic junction stenosis NOT_TRANSLATED +HP:0000075 Extra kidney NOT_TRANSLATED +HP:0000075 Supernumerary kidney NOT_TRANSLATED +HP:0000076 Ureteral reflux NOT_TRANSLATED +HP:0000076 Ureteric reflux NOT_TRANSLATED +HP:0000076 Vesico-ureteral reflux NOT_TRANSLATED +HP:0000076 Vesicoureteric reflux NOT_TRANSLATED +HP:0000077 Abnormal kidney NOT_TRANSLATED +HP:0000077 Renal anomalies NOT_TRANSLATED +HP:0000077 Renal anomaly NOT_TRANSLATED +HP:0000078 Abnormality of the reproductive system NOT_TRANSLATED +HP:0000078 Genital abnormalities NOT_TRANSLATED +HP:0000078 Genital abnormality NOT_TRANSLATED +HP:0000078 Genital anomalies NOT_TRANSLATED +HP:0000078 Genital defects NOT_TRANSLATED +HP:0000079 Urinary tract abnormalities NOT_TRANSLATED +HP:0000079 Urinary tract abnormality NOT_TRANSLATED +HP:0000079 Urinary tract anomalies NOT_TRANSLATED +HP:0000080 Abnormality of genital physiology NOT_TRANSLATED +HP:0000080 Genital functional abnormality NOT_TRANSLATED +HP:0000081 Double collecting system NOT_TRANSLATED +HP:0000081 Double urinary collecting systems on intravenous pyelography NOT_TRANSLATED +HP:0000081 Duplex collecting system NOT_TRANSLATED +HP:0000081 Duplicated renal collecting system NOT_TRANSLATED +HP:0000083 Renal failure NOT_TRANSLATED +HP:0000083 Renal failure in adulthood NOT_TRANSLATED +HP:0000085 Hoefijzernieren CANDIDATE +HP:0000086 Abnormal kidney location NOT_TRANSLATED +HP:0000086 Displaced kidney NOT_TRANSLATED +HP:0000086 Ectopic kidneys NOT_TRANSLATED +HP:0000086 Renal ectopia NOT_TRANSLATED +HP:0000089 Hypoplastic kidney NOT_TRANSLATED +HP:0000089 Hypoplastic kidneys NOT_TRANSLATED +HP:0000089 Small kidneys NOT_TRANSLATED +HP:0000089 Underdeveloped kidneys NOT_TRANSLATED +HP:0000090 juvenile nephronophthisis NOT_TRANSLATED +HP:0000091 Abnormality of the renal tubule NOT_TRANSLATED +HP:0000091 Morphologic abnormality of the renal tubules NOT_TRANSLATED +HP:0000092 Renal tubular cell atrophy NOT_TRANSLATED +HP:0000092 Tubular atrophy NOT_TRANSLATED +HP:0000093 High urine protein levels NOT_TRANSLATED +HP:0000093 Protein in urine NOT_TRANSLATED +HP:0000095 Abnormality of renal glomerulus morphology NOT_TRANSLATED +HP:0000095 Morphologic abnormality of the renal glomerulus NOT_TRANSLATED +HP:0000096 Glomerulosclerosis NOT_TRANSLATED +HP:0000096 Renal glomerular fibrosis NOT_TRANSLATED +HP:0000097 Focal and segmental glomerular sclerosis NOT_TRANSLATED +HP:0000097 Focal and segmental glomerulosclerosis NOT_TRANSLATED +HP:0000097 focal glomerulosclerosis NOT_TRANSLATED +HP:0000098 Accelerated linear growth NOT_TRANSLATED +HP:0000098 Increased body height NOT_TRANSLATED +HP:0000098 Increased linear growth NOT_TRANSLATED +HP:0000099 Glomerular nephritis NOT_TRANSLATED +HP:0000100 Nefrosis CANDIDATE +HP:0000103 Increased urine output NOT_TRANSLATED +HP:0000104 Absent kidney NOT_TRANSLATED +HP:0000104 Missing kidney NOT_TRANSLATED +HP:0000104 Renal aplasia NOT_TRANSLATED +HP:0000105 Large kidney NOT_TRANSLATED +HP:0000105 Large kidneys NOT_TRANSLATED +HP:0000105 Nephromegaly NOT_TRANSLATED +HP:0000105 Renal enlargement NOT_TRANSLATED +HP:0000107 Cystic kidney disease NOT_TRANSLATED +HP:0000107 Cystic kidneys NOT_TRANSLATED +HP:0000107 Kidney cyst NOT_TRANSLATED +HP:0000107 Renal cysts NOT_TRANSLATED +HP:0000108 Corticomedullary renal cysts NOT_TRANSLATED +HP:0000108 Renal corticomedullary cystic disease NOT_TRANSLATED +HP:0000110 Dysplastic kidneys NOT_TRANSLATED +HP:0000110 Renal adysplasia NOT_TRANSLATED +HP:0000112 Kidney damage NOT_TRANSLATED +HP:0000112 Kidney disease NOT_TRANSLATED +HP:0000113 Enlarged polycystic kidneys NOT_TRANSLATED +HP:0000113 Polycystic kidney disease NOT_TRANSLATED +HP:0000113 Polycystic kidneys NOT_TRANSLATED +HP:0000114 Proximal renal tubule defect NOT_TRANSLATED +HP:0000114 Proximal renal tubulopathy NOT_TRANSLATED +HP:0000114 Proximal tubular defect NOT_TRANSLATED +HP:0000114 Proximal tubule dysfunction NOT_TRANSLATED +HP:0000114 Selective proximal tubular damage NOT_TRANSLATED +HP:0000117 Decreased renal tubular phosphate reabsorption NOT_TRANSLATED +HP:0000117 Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate NOT_TRANSLATED +HP:0000117 Tubular phosphate reabsorption low NOT_TRANSLATED +HP:0000118 Organ abnormality NOT_TRANSLATED +HP:0000119 Abnormality of the GU system NOT_TRANSLATED +HP:0000119 Genitourinary abnormality NOT_TRANSLATED +HP:0000119 Genitourinary disease NOT_TRANSLATED +HP:0000119 Genitourinary dysplasia NOT_TRANSLATED +HP:0000119 Genitourinary tract anomalies NOT_TRANSLATED +HP:0000119 Genitourinary tract malformation NOT_TRANSLATED +HP:0000119 Urogenital abnormalities NOT_TRANSLATED +HP:0000119 Urogenital anomalies NOT_TRANSLATED +HP:0000121 Increased calcium level in kidney NOT_TRANSLATED +HP:0000121 Too much calcium deposited in kidneys NOT_TRANSLATED +HP:0000122 Absent kidney on one side NOT_TRANSLATED +HP:0000122 Missing one kidney NOT_TRANSLATED +HP:0000122 Single kidney NOT_TRANSLATED +HP:0000122 Unilateral kidney agenesis NOT_TRANSLATED +HP:0000123 Nierontsteking CANDIDATE +HP:0000124 Abnormal function of filtrating structures in kidney NOT_TRANSLATED +HP:0000124 Renal tubular defect NOT_TRANSLATED +HP:0000124 Renal tubular disease NOT_TRANSLATED +HP:0000125 Sacral kidney NOT_TRANSLATED +HP:0000127 Loss of salt in urine NOT_TRANSLATED +HP:0000127 Renal salt-wasting NOT_TRANSLATED +HP:0000127 Salt wasting NOT_TRANSLATED +HP:0000127 Salt-wasting NOT_TRANSLATED +HP:0000128 Renal K wasting NOT_TRANSLATED +HP:0000130 Uterine abnormalities NOT_TRANSLATED +HP:0000130 Uterine malformations NOT_TRANSLATED +HP:0000131 Benign uterine leiomyomas NOT_TRANSLATED +HP:0000131 Uterine fibroid NOT_TRANSLATED +HP:0000132 Abnormally heavy bleeding during menstruation NOT_TRANSLATED +HP:0000132 Abnormally heavy periods NOT_TRANSLATED +HP:0000132 Hypermenorrhea NOT_TRANSLATED +HP:0000133 Mixed gonadal dysgenesis NOT_TRANSLATED +HP:0000133 Pure gonadal dysgenesis NOT_TRANSLATED +HP:0000134 Hypogonadism, female NOT_TRANSLATED +HP:0000135 Decreased activity of gonads NOT_TRANSLATED +HP:0000137 Abnormality of the ovaries NOT_TRANSLATED +HP:0000137 Ovarian disease NOT_TRANSLATED +HP:0000138 Cystic abnormalities of the ovaries NOT_TRANSLATED +HP:0000138 Cystic ovaries NOT_TRANSLATED +HP:0000138 Ovarian cystic abnormality NOT_TRANSLATED +HP:0000139 Sagging uterus NOT_TRANSLATED +HP:0000140 Menstrual abnormalities NOT_TRANSLATED +HP:0000141 Abnormal absence of menstruation NOT_TRANSLATED +HP:0000142 Vaginal malformation NOT_TRANSLATED +HP:0000143 Abnormal connection between rectum and vagina NOT_TRANSLATED +HP:0000144 Abnormale vruchtbaarheid CANDIDATE +HP:0000145 Transverse vaginal membrane NOT_TRANSLATED +HP:0000147 Polycystic ovary NOT_TRANSLATED +HP:0000147 Polycystic ovary disease NOT_TRANSLATED +HP:0000147 Sclerocystic ovaries NOT_TRANSLATED +HP:0000148 Abnormally closed or absent vagina NOT_TRANSLATED +HP:0000149 Gonadoblastoma, female NOT_TRANSLATED +HP:0000151 Absent uterus NOT_TRANSLATED +HP:0000151 uterus absent NOT_TRANSLATED +HP:0000152 Head and neck abnormality NOT_TRANSLATED +HP:0000153 Abnormal mouth NOT_TRANSLATED +HP:0000154 Broad mouth NOT_TRANSLATED +HP:0000154 Large mouth NOT_TRANSLATED +HP:0000154 Large oral aperture NOT_TRANSLATED +HP:0000154 Macrostomia NOT_TRANSLATED +HP:0000155 Mouth sore NOT_TRANSLATED +HP:0000155 Mouth ulcer NOT_TRANSLATED +HP:0000155 Oral mucosal ulceration NOT_TRANSLATED +HP:0000157 Abnormal tongue NOT_TRANSLATED +HP:0000157 Glossal abnormality NOT_TRANSLATED +HP:0000157 Lingual abnormality NOT_TRANSLATED +HP:0000157 Tongue abnormality NOT_TRANSLATED +HP:0000158 Abnormally large tongue NOT_TRANSLATED +HP:0000158 Glossal hypertrophy NOT_TRANSLATED +HP:0000158 Hyperplasia of the tongue NOT_TRANSLATED +HP:0000158 Hypertrophy of the tongue NOT_TRANSLATED +HP:0000158 Increased size of tongue NOT_TRANSLATED +HP:0000158 Large tongue NOT_TRANSLATED +HP:0000158 Lingual hyperplasia NOT_TRANSLATED +HP:0000158 Lingual hypertrophy NOT_TRANSLATED +HP:0000158 Tongue hypertrophy NOT_TRANSLATED +HP:0000159 Abnormal lip NOT_TRANSLATED +HP:0000159 Abnormality of the lip NOT_TRANSLATED +HP:0000159 Anomaly of lip NOT_TRANSLATED +HP:0000159 Deformity of lip NOT_TRANSLATED +HP:0000159 Lip abnormality NOT_TRANSLATED +HP:0000159 Malformation of lip NOT_TRANSLATED +HP:0000160 Microstomia NOT_TRANSLATED +HP:0000160 Small mouth NOT_TRANSLATED +HP:0000160 Small oral aperture NOT_TRANSLATED +HP:0000161 Central cleft upper lip NOT_TRANSLATED +HP:0000161 Midline cleft lip NOT_TRANSLATED +HP:0000162 Lingual retraction NOT_TRANSLATED +HP:0000162 Posterior displacement of the tongue NOT_TRANSLATED +HP:0000162 Retraction of the tongue NOT_TRANSLATED +HP:0000163 Abnormality of the oral cavity NOT_TRANSLATED +HP:0000164 Abnormal dentition NOT_TRANSLATED +HP:0000164 Abnormal teeth NOT_TRANSLATED +HP:0000164 Abnormality of the teeth NOT_TRANSLATED +HP:0000164 Dental abnormalities NOT_TRANSLATED +HP:0000164 Dental abnormality NOT_TRANSLATED +HP:0000164 Dental anomalies NOT_TRANSLATED +HP:0000164 Dental problem NOT_TRANSLATED +HP:0000164 Dental problems NOT_TRANSLATED +HP:0000164 Tooth abnormalities NOT_TRANSLATED +HP:0000166 Severe gum disease NOT_TRANSLATED +HP:0000166 Severe periodontal disease NOT_TRANSLATED +HP:0000166 Severe pyorrhea NOT_TRANSLATED +HP:0000168 Abnormality of the gums NOT_TRANSLATED +HP:0000168 Gingival abnormality NOT_TRANSLATED +HP:0000169 Gingival fibroma NOT_TRANSLATED +HP:0000169 Gingival fibrous nodules NOT_TRANSLATED +HP:0000169 Hereditary gingival fibromatosis NOT_TRANSLATED +HP:0000169 Idiopathic gingival hyperplasia NOT_TRANSLATED +HP:0000171 Abnormally small tongue NOT_TRANSLATED +HP:0000171 Decreased size of tongue NOT_TRANSLATED +HP:0000171 Hypoglossia NOT_TRANSLATED +HP:0000171 Hypoplasia of the tongue NOT_TRANSLATED +HP:0000171 Hypoplastic tongue NOT_TRANSLATED +HP:0000171 Lingual hypoplasia NOT_TRANSLATED +HP:0000171 Rudimentary tongue NOT_TRANSLATED +HP:0000171 Small tongue NOT_TRANSLATED +HP:0000171 Underdevelopment of the tongue NOT_TRANSLATED +HP:0000172 Abnormality of palatine uvula NOT_TRANSLATED +HP:0000172 Abnormality of the uvula NOT_TRANSLATED +HP:0000174 Abnormality of the palate NOT_TRANSLATED +HP:0000174 Abnormality of the roof of the mouth NOT_TRANSLATED +HP:0000174 Palatal anomaly NOT_TRANSLATED +HP:0000174 Palate abnormality NOT_TRANSLATED +HP:0000175 Cleft hard and soft palate NOT_TRANSLATED +HP:0000175 Cleft of hard and soft palate NOT_TRANSLATED +HP:0000175 Cleft of palate NOT_TRANSLATED +HP:0000175 Cleft roof of mouth NOT_TRANSLATED +HP:0000175 Cleft secondary palate NOT_TRANSLATED +HP:0000175 Palatoschisis NOT_TRANSLATED +HP:0000175 Uranostaphyloschisis NOT_TRANSLATED +HP:0000176 Partial thickness cleft hard palate NOT_TRANSLATED +HP:0000176 Submucosal cleft palate NOT_TRANSLATED +HP:0000176 Submucous clefting NOT_TRANSLATED +HP:0000177 Abnormality of upper lip NOT_TRANSLATED +HP:0000177 Anomaly of the upper lip NOT_TRANSLATED +HP:0000177 Deformity of the upper lip NOT_TRANSLATED +HP:0000177 Malformation of the upper lip NOT_TRANSLATED +HP:0000178 Abnormality of lower lip NOT_TRANSLATED +HP:0000178 Anomaly of the lower lip NOT_TRANSLATED +HP:0000178 Deformity of the lower lip NOT_TRANSLATED +HP:0000178 Malformation of the lower lip NOT_TRANSLATED +HP:0000179 Full lower lip NOT_TRANSLATED +HP:0000179 Full lower lip vermilion NOT_TRANSLATED +HP:0000179 Increased height of lower lip vermilion NOT_TRANSLATED +HP:0000179 Increased volume of lower lip NOT_TRANSLATED +HP:0000179 Increased volume of lower lip vermilion NOT_TRANSLATED +HP:0000179 Plump lower lip NOT_TRANSLATED +HP:0000179 Prominent lower lip NOT_TRANSLATED +HP:0000179 Prominent lower lip vermilion NOT_TRANSLATED +HP:0000179 Thick lower lip NOT_TRANSLATED +HP:0000179 Thick red part of the lower lip NOT_TRANSLATED +HP:0000179 Thick vermilion border of lower lip NOT_TRANSLATED +HP:0000180 Bumpy tongue NOT_TRANSLATED +HP:0000180 Lingual lobules NOT_TRANSLATED +HP:0000180 Lobulate tongue NOT_TRANSLATED +HP:0000182 Abnormality of lingual movement NOT_TRANSLATED +HP:0000183 Difficulty in lingual movements NOT_TRANSLATED +HP:0000183 Hypokinesia of the tongue NOT_TRANSLATED +HP:0000183 Lingual hypokinesia NOT_TRANSLATED +HP:0000185 Cleft muscular palate NOT_TRANSLATED +HP:0000185 Cleft of soft palate NOT_TRANSLATED +HP:0000185 Cleft velum NOT_TRANSLATED +HP:0000187 Broad alveolar margins NOT_TRANSLATED +HP:0000187 Broad alveolar processes of jaw NOT_TRANSLATED +HP:0000187 Wide alveolar margins NOT_TRANSLATED +HP:0000187 Wide alveolar processes of jaw NOT_TRANSLATED +HP:0000187 Wide gum ridges NOT_TRANSLATED +HP:0000187 Widened alveolar ridges NOT_TRANSLATED +HP:0000188 Decreased height of upper lip NOT_TRANSLATED +HP:0000188 Decreased upper labial height NOT_TRANSLATED +HP:0000188 Decreased upper labial length NOT_TRANSLATED +HP:0000188 Decreased vertical length of upper lip NOT_TRANSLATED +HP:0000188 Shortening of upper lip NOT_TRANSLATED +HP:0000188 Vertical deficiency of upper lip NOT_TRANSLATED +HP:0000189 Decreased palatal width NOT_TRANSLATED +HP:0000189 Decreased transverse dimension of palate NOT_TRANSLATED +HP:0000189 Narrow roof of mouth NOT_TRANSLATED +HP:0000190 Abnormality of frenum of tongue NOT_TRANSLATED +HP:0000190 Abnormality of lingual frenum NOT_TRANSLATED +HP:0000190 Abnormality of oral frenula NOT_TRANSLATED +HP:0000190 Abnormality of oral frenum NOT_TRANSLATED +HP:0000191 Accessory oral frenum NOT_TRANSLATED +HP:0000191 Extra oral frenulum NOT_TRANSLATED +HP:0000191 Extra oral frenum NOT_TRANSLATED +HP:0000191 Multiple oral frenula NOT_TRANSLATED +HP:0000191 Supernumerary oral frenulum NOT_TRANSLATED +HP:0000191 Supernumerary oral frenum NOT_TRANSLATED +HP:0000193 Bifid palatine uvula NOT_TRANSLATED +HP:0000193 Cleft of uvula NOT_TRANSLATED +HP:0000193 Cleft uvula NOT_TRANSLATED +HP:0000193 Forked uvula NOT_TRANSLATED +HP:0000193 Split uvula NOT_TRANSLATED +HP:0000193 Uvula bifida NOT_TRANSLATED +HP:0000194 Gaped jawed appearance NOT_TRANSLATED +HP:0000194 Gaped mouthed appearance NOT_TRANSLATED +HP:0000194 Open mouth appearance NOT_TRANSLATED +HP:0000194 Slack jawed appearance NOT_TRANSLATED +HP:0000197 Abnormality of parotid gland NOT_TRANSLATED +HP:0000197 Anomaly of the parotid gland NOT_TRANSLATED +HP:0000198 Absence of parotid duct NOT_TRANSLATED +HP:0000198 Absent stensen duct NOT_TRANSLATED +HP:0000198 Agenesis of parotid duct NOT_TRANSLATED +HP:0000198 Agenesis of stensen duct NOT_TRANSLATED +HP:0000198 Failure of development of parotid duct NOT_TRANSLATED +HP:0000198 Failure of development of stensen duct NOT_TRANSLATED +HP:0000198 Missing parotid duct NOT_TRANSLATED +HP:0000198 Missing stensen duct NOT_TRANSLATED +HP:0000199 Lingual nodules NOT_TRANSLATED +HP:0000200 Deficiency of lingual frenulum NOT_TRANSLATED +HP:0000200 Hypoplasia of lingual frenulum NOT_TRANSLATED +HP:0000200 Hypoplasia of lingual frenum NOT_TRANSLATED +HP:0000200 Hypoplasia of tongue frenulum NOT_TRANSLATED +HP:0000200 Hypoplasia of tongue frenum NOT_TRANSLATED +HP:0000200 Short lingual frenum NOT_TRANSLATED +HP:0000200 Short tongue frenulum NOT_TRANSLATED +HP:0000200 Short tongue frenum NOT_TRANSLATED +HP:0000200 Tight lingual frenulum NOT_TRANSLATED +HP:0000201 Pierre Robin sequence NOT_TRANSLATED +HP:0000201 Pierre-robin anomaly NOT_TRANSLATED +HP:0000201 Pierre-robin deformity NOT_TRANSLATED +HP:0000201 Pierre-robin malformation NOT_TRANSLATED +HP:0000201 Robin sequence NOT_TRANSLATED +HP:0000202 Cleft lip, cleft palate NOT_TRANSLATED +HP:0000202 Cleft lip/palate NOT_TRANSLATED +HP:0000202 Cleft of the mouth NOT_TRANSLATED +HP:0000202 Oral clefting NOT_TRANSLATED +HP:0000204 Cheiloschisis of upper lip NOT_TRANSLATED +HP:0000204 Cleft of upper lip NOT_TRANSLATED +HP:0000204 Harelip NOT_TRANSLATED +HP:0000205 Tightly closed lips NOT_TRANSLATED +HP:0000206 Inflammation of the tongue NOT_TRANSLATED +HP:0000206 Lingual inflammation NOT_TRANSLATED +HP:0000206 Smooth swollen tongue NOT_TRANSLATED +HP:0000207 Triangular shaped mouth NOT_TRANSLATED +HP:0000207 Triangular shaped oral aperture NOT_TRANSLATED +HP:0000211 Decrease in jaw mobility NOT_TRANSLATED +HP:0000211 Decrease in jaw movement NOT_TRANSLATED +HP:0000211 Decrease in jaw opening NOT_TRANSLATED +HP:0000211 Decrease in mandibular mobility NOT_TRANSLATED +HP:0000211 Decrease in mandibular movement NOT_TRANSLATED +HP:0000211 Decrease in mandibular opening NOT_TRANSLATED +HP:0000211 Limited jaw mobility NOT_TRANSLATED +HP:0000211 Limited jaw movement NOT_TRANSLATED +HP:0000211 Limited jaw opening NOT_TRANSLATED +HP:0000211 Limited mandibular mobility NOT_TRANSLATED +HP:0000211 Limited mandibular opening NOT_TRANSLATED +HP:0000211 Limited mouth opening NOT_TRANSLATED +HP:0000211 Lockjaw NOT_TRANSLATED +HP:0000211 Pain of muscles of mastication NOT_TRANSLATED +HP:0000212 Gingival enlargement NOT_TRANSLATED +HP:0000212 Gingival hyperplasia NOT_TRANSLATED +HP:0000212 Gum enlargement NOT_TRANSLATED +HP:0000212 Gum hypertrophy NOT_TRANSLATED +HP:0000212 Hypertrophic gingivitis NOT_TRANSLATED +HP:0000212 Oral soft tissue hyperplasia NOT_TRANSLATED +HP:0000214 Angioectasias of the lip NOT_TRANSLATED +HP:0000214 Labial angioectasias NOT_TRANSLATED +HP:0000214 Labial telangiectasia NOT_TRANSLATED +HP:0000214 Lip telangiectases NOT_TRANSLATED +HP:0000214 Spider veins of the lip NOT_TRANSLATED +HP:0000214 Telangiectasia of the lips NOT_TRANSLATED +HP:0000215 Full upper lip NOT_TRANSLATED +HP:0000215 Full upper lip vermilion NOT_TRANSLATED +HP:0000215 Increased height of upper lip vermilion NOT_TRANSLATED +HP:0000215 Increased volume of upper lip NOT_TRANSLATED +HP:0000215 Increased volume of upper lip vermilion NOT_TRANSLATED +HP:0000215 Plump upper lip NOT_TRANSLATED +HP:0000215 Prominent upper lip NOT_TRANSLATED +HP:0000215 Prominent upper lip vermilion NOT_TRANSLATED +HP:0000215 Thick red part of the upper lip NOT_TRANSLATED +HP:0000215 Thick upper lip NOT_TRANSLATED +HP:0000215 Thick vermilion border of upper lip NOT_TRANSLATED +HP:0000216 Secondary alveolar ridges NOT_TRANSLATED +HP:0000217 Decreased salivary flow NOT_TRANSLATED +HP:0000217 Dry mouth NOT_TRANSLATED +HP:0000217 Dry mouth syndrome NOT_TRANSLATED +HP:0000217 Reduced salivation NOT_TRANSLATED +HP:0000218 Elevated palate NOT_TRANSLATED +HP:0000218 High arched palate NOT_TRANSLATED +HP:0000218 High, arched palate NOT_TRANSLATED +HP:0000218 High-arched palate NOT_TRANSLATED +HP:0000218 Increased palatal height NOT_TRANSLATED +HP:0000218 Ogival palate NOT_TRANSLATED +HP:0000218 Palate high-arched NOT_TRANSLATED +HP:0000218 Palate, high-arched NOT_TRANSLATED +HP:0000219 Decreased height of upper lip vermilion NOT_TRANSLATED +HP:0000219 Decreased volume of upper lip NOT_TRANSLATED +HP:0000219 Decreased volume of upper lip vermilion NOT_TRANSLATED +HP:0000219 Thin red part of the upper lip NOT_TRANSLATED +HP:0000219 Thin upper lip NOT_TRANSLATED +HP:0000219 Thin upper lips NOT_TRANSLATED +HP:0000219 Thin vermilion border of upper lip NOT_TRANSLATED +HP:0000220 Velopharyngeal dysfunction NOT_TRANSLATED +HP:0000220 Velopharyngeal incompetence NOT_TRANSLATED +HP:0000221 Fissured tongue NOT_TRANSLATED +HP:0000221 Grooved tongue NOT_TRANSLATED +HP:0000221 Lingua plicata NOT_TRANSLATED +HP:0000221 Lingual furrow NOT_TRANSLATED +HP:0000221 Plicated tongue NOT_TRANSLATED +HP:0000221 Prominent tongue grooves NOT_TRANSLATED +HP:0000221 Scrotal tongue NOT_TRANSLATED +HP:0000222 Hyperkeratosis, gingival NOT_TRANSLATED +HP:0000224 Decreased taste NOT_TRANSLATED +HP:0000224 Decreased taste sensation NOT_TRANSLATED +HP:0000225 Bleeding gums NOT_TRANSLATED +HP:0000225 Gingival haemorrhage NOT_TRANSLATED +HP:0000225 Gingival hemorrhage NOT_TRANSLATED +HP:0000225 Gingivorrhagia NOT_TRANSLATED +HP:0000227 Angioectasias of the tongue NOT_TRANSLATED +HP:0000227 Lingual angioectasias NOT_TRANSLATED +HP:0000227 Lingual telangiectasia NOT_TRANSLATED +HP:0000227 Spider veins of the tongue NOT_TRANSLATED +HP:0000228 Angioectasias of the mouth NOT_TRANSLATED +HP:0000228 Angioectasias of the oral cavity NOT_TRANSLATED +HP:0000228 Oral cavity teleangiectasia NOT_TRANSLATED +HP:0000228 Spider veins of the mouth NOT_TRANSLATED +HP:0000228 Spider veins of the oral cavity NOT_TRANSLATED +HP:0000230 Gingival inflammation NOT_TRANSLATED +HP:0000230 Inflamed gums NOT_TRANSLATED +HP:0000230 Red and swollen gums NOT_TRANSLATED +HP:0000232 Drooping lower lip NOT_TRANSLATED +HP:0000232 Eclabium of lower lip NOT_TRANSLATED +HP:0000232 Everted lower lip NOT_TRANSLATED +HP:0000232 Everted prominent lower lip NOT_TRANSLATED +HP:0000232 Outward turned lower lip NOT_TRANSLATED +HP:0000232 Protruding lower lip NOT_TRANSLATED +HP:0000233 Decreased volume of lip NOT_TRANSLATED +HP:0000233 Decreased volume of lip vermillion NOT_TRANSLATED +HP:0000233 Thin lips NOT_TRANSLATED +HP:0000233 Thin vermilion borders NOT_TRANSLATED +HP:0000233 Thin vermillion NOT_TRANSLATED +HP:0000234 Abnormal head NOT_TRANSLATED +HP:0000234 Head abnormality NOT_TRANSLATED +HP:0000236 Abnormality of the forehead soft spot NOT_TRANSLATED +HP:0000237 Small anterior fontanel NOT_TRANSLATED +HP:0000237 Small forehead fontanel NOT_TRANSLATED +HP:0000238 Hydrocefalie CANDIDATE +HP:0000238 Niet syndromale hydrocefalus CANDIDATE +HP:0000239 Enlarged fontanelles NOT_TRANSLATED +HP:0000239 Large bregma sutures NOT_TRANSLATED +HP:0000239 Large fontanel NOT_TRANSLATED +HP:0000239 Large fontanelle NOT_TRANSLATED +HP:0000239 Large fontanels NOT_TRANSLATED +HP:0000239 Large, late-closing fontanelle NOT_TRANSLATED +HP:0000239 Persistent wide fontanel NOT_TRANSLATED +HP:0000239 Wide bregma sutures NOT_TRANSLATED +HP:0000239 Wide fontanelles NOT_TRANSLATED +HP:0000240 Abnormality of cranium size NOT_TRANSLATED +HP:0000240 Abnormality of head size NOT_TRANSLATED +HP:0000242 Biparietal bossing NOT_TRANSLATED +HP:0000242 Bossing of parietal bone NOT_TRANSLATED +HP:0000243 Triangular cranium shape NOT_TRANSLATED +HP:0000243 Triangular head shape NOT_TRANSLATED +HP:0000243 Triangular skull shape NOT_TRANSLATED +HP:0000243 Wedge shaped cranium NOT_TRANSLATED +HP:0000243 Wedge shaped head NOT_TRANSLATED +HP:0000243 Wedge shaped skull NOT_TRANSLATED +HP:0000244 Brachy-turricephaly NOT_TRANSLATED +HP:0000244 High, prominent forehead NOT_TRANSLATED +HP:0000244 Turribrachycephaly NOT_TRANSLATED +HP:0000245 Abnormality of the paranasal sinuses NOT_TRANSLATED +HP:0000245 Abnormality of the sinuses NOT_TRANSLATED +HP:0000245 Abnormality of the sinuses of the head NOT_TRANSLATED +HP:0000246 Sinus disease NOT_TRANSLATED +HP:0000246 Sinus infection NOT_TRANSLATED +HP:0000246 Sinus inflammation NOT_TRANSLATED +HP:0000248 Broad cranium shape NOT_TRANSLATED +HP:0000248 Broad head shape NOT_TRANSLATED +HP:0000248 Broad skull shape NOT_TRANSLATED +HP:0000248 Short and broad skull NOT_TRANSLATED +HP:0000248 Wide cranium shape NOT_TRANSLATED +HP:0000248 Wide head shape NOT_TRANSLATED +HP:0000248 Wide skull shape NOT_TRANSLATED +HP:0000250 Dense skull cap NOT_TRANSLATED +HP:0000252 Abnormally small cranium NOT_TRANSLATED +HP:0000252 Abnormally small head NOT_TRANSLATED +HP:0000252 Abnormally small skull NOT_TRANSLATED +HP:0000252 Decreased circumference of cranium NOT_TRANSLATED +HP:0000252 Decreased size of cranium NOT_TRANSLATED +HP:0000252 Decreased size of head NOT_TRANSLATED +HP:0000252 Decreased size of skull NOT_TRANSLATED +HP:0000252 Reduced head circumference NOT_TRANSLATED +HP:0000252 Small head NOT_TRANSLATED +HP:0000252 Small head circumference NOT_TRANSLATED +HP:0000252 Small skull NOT_TRANSLATED +HP:0000252 small calvarium NOT_TRANSLATED +HP:0000252 small cranium NOT_TRANSLATED +HP:0000253 Microcefalie, postnataal, progressief CANDIDATE +HP:0000253 Microcefalie, progressief CANDIDATE +HP:0000253 Progressief afwijkende kleine cranium CANDIDATE +HP:0000253 Progressieve afwijkende kleine schedel CANDIDATE +HP:0000256 Big calvaria NOT_TRANSLATED +HP:0000256 Big cranium NOT_TRANSLATED +HP:0000256 Big head NOT_TRANSLATED +HP:0000256 Big skull NOT_TRANSLATED +HP:0000256 Increased size of cranium NOT_TRANSLATED +HP:0000256 Increased size of head NOT_TRANSLATED +HP:0000256 Increased size of skull NOT_TRANSLATED +HP:0000256 Large calvaria NOT_TRANSLATED +HP:0000256 Large cranium NOT_TRANSLATED +HP:0000256 Large head NOT_TRANSLATED +HP:0000256 Large head circumference NOT_TRANSLATED +HP:0000256 Large skull NOT_TRANSLATED +HP:0000256 Macrocephalus NOT_TRANSLATED +HP:0000256 Macrocrania NOT_TRANSLATED +HP:0000256 Megacephaly NOT_TRANSLATED +HP:0000260 Large anterior fontanel NOT_TRANSLATED +HP:0000260 Large anterior fontanelle NOT_TRANSLATED +HP:0000260 Large anterior fontanels NOT_TRANSLATED +HP:0000260 Large open anterior fontanel NOT_TRANSLATED +HP:0000260 Large open anterior fontanelle NOT_TRANSLATED +HP:0000260 Wide anterior fontanelle NOT_TRANSLATED +HP:0000260 Wide open anterior fontanelle NOT_TRANSLATED +HP:0000260 Wider-than-typical soft spot of skull NOT_TRANSLATED +HP:0000262 Tall shaped cranium NOT_TRANSLATED +HP:0000262 Tall shaped head NOT_TRANSLATED +HP:0000262 Tall shaped skull NOT_TRANSLATED +HP:0000262 Tower cranium shape NOT_TRANSLATED +HP:0000262 Tower skull shape NOT_TRANSLATED +HP:0000262 Turricephalus NOT_TRANSLATED +HP:0000263 Acrocefalie CANDIDATE +HP:0000264 Abnormality of mastoid process of temporal bone NOT_TRANSLATED +HP:0000264 Abnormality of the mastoid NOT_TRANSLATED +HP:0000267 Abnormality of cranial vault shape NOT_TRANSLATED +HP:0000267 Abnormality of cranium shape NOT_TRANSLATED +HP:0000267 Abnormality of head shape NOT_TRANSLATED +HP:0000267 Asymmetry of cranium NOT_TRANSLATED +HP:0000267 Asymmetry of head NOT_TRANSLATED +HP:0000267 Cranial vault asymmetry NOT_TRANSLATED +HP:0000267 Malformation of cranial vault shape NOT_TRANSLATED +HP:0000267 Malformation of cranium shape NOT_TRANSLATED +HP:0000267 Malformation of head shape NOT_TRANSLATED +HP:0000267 Uneven head shape NOT_TRANSLATED +HP:0000268 Large dolichocephalic skull NOT_TRANSLATED +HP:0000268 Long, narrow head NOT_TRANSLATED +HP:0000268 Narrow cranium shape NOT_TRANSLATED +HP:0000268 Narrow head shape NOT_TRANSLATED +HP:0000268 Narrow skull shape NOT_TRANSLATED +HP:0000268 Tall and narrow skull NOT_TRANSLATED +HP:0000268 Turridolichocephaly NOT_TRANSLATED +HP:0000269 Prominent back of the head NOT_TRANSLATED +HP:0000269 Prominent back of the skull NOT_TRANSLATED +HP:0000269 Prominent posterior cranium NOT_TRANSLATED +HP:0000269 Prominent posterior head NOT_TRANSLATED +HP:0000269 Prominent posterior skull NOT_TRANSLATED +HP:0000269 Protruding back of the head NOT_TRANSLATED +HP:0000269 Protruding occiput NOT_TRANSLATED +HP:0000270 Broad late closing cranial sutures NOT_TRANSLATED +HP:0000270 Delayed closure of fontanel NOT_TRANSLATED +HP:0000270 Delayed closure of fontanelles NOT_TRANSLATED +HP:0000270 Delayed closure of fontanels NOT_TRANSLATED +HP:0000270 Delayed closure of the fontanelles NOT_TRANSLATED +HP:0000270 Delayed fontanel closure NOT_TRANSLATED +HP:0000270 Delayed fontanelle closure NOT_TRANSLATED +HP:0000270 Late closing fontanelles NOT_TRANSLATED +HP:0000270 Late closure of fontanelle NOT_TRANSLATED +HP:0000270 Late-closing fontanelle NOT_TRANSLATED +HP:0000270 Open sutures NOT_TRANSLATED +HP:0000271 Abnormal face NOT_TRANSLATED +HP:0000271 Abnormality of the countenance NOT_TRANSLATED +HP:0000271 Abnormality of the physiognomy NOT_TRANSLATED +HP:0000271 Abnormality of the visage NOT_TRANSLATED +HP:0000271 Anomaly of face NOT_TRANSLATED +HP:0000271 Anomaly of the face NOT_TRANSLATED +HP:0000271 Disorder of face NOT_TRANSLATED +HP:0000271 Disorder of the face NOT_TRANSLATED +HP:0000271 Facial abnormality NOT_TRANSLATED +HP:0000271 Facial anomaly NOT_TRANSLATED +HP:0000272 Decreased size of malar bone NOT_TRANSLATED +HP:0000272 Depressed malar region NOT_TRANSLATED +HP:0000272 Flat cheekbone NOT_TRANSLATED +HP:0000272 Hypotrophic malar bone NOT_TRANSLATED +HP:0000272 Malar hypoplasia NOT_TRANSLATED +HP:0000272 Underdevelopment of malar bone NOT_TRANSLATED +HP:0000272 Zygomatic flattening NOT_TRANSLATED +HP:0000274 Facial hypoplasia NOT_TRANSLATED +HP:0000274 Hypoplasia of face NOT_TRANSLATED +HP:0000274 Microface NOT_TRANSLATED +HP:0000274 Microfacies NOT_TRANSLATED +HP:0000274 Short and narrow face NOT_TRANSLATED +HP:0000274 Small facies NOT_TRANSLATED +HP:0000275 Decreased breadth of face NOT_TRANSLATED +HP:0000275 Decreased horizontal dimension of face NOT_TRANSLATED +HP:0000275 Decreased transverse dimension of face NOT_TRANSLATED +HP:0000275 Decreased width of face NOT_TRANSLATED +HP:0000275 Horizontal deficiency of face NOT_TRANSLATED +HP:0000275 Horizontal hypoplasia of face NOT_TRANSLATED +HP:0000275 Horizontal insufficiency of face NOT_TRANSLATED +HP:0000275 Narrow facies NOT_TRANSLATED +HP:0000275 Thin face NOT_TRANSLATED +HP:0000275 Thin facies NOT_TRANSLATED +HP:0000275 Transverse deficiency of face NOT_TRANSLATED +HP:0000275 Transverse hypoplasia of face NOT_TRANSLATED +HP:0000275 Transverse insufficiency of face NOT_TRANSLATED +HP:0000276 Elongation of face NOT_TRANSLATED +HP:0000276 Increased height of face NOT_TRANSLATED +HP:0000276 Increased length of face NOT_TRANSLATED +HP:0000276 Increased vertical dimension of face NOT_TRANSLATED +HP:0000276 Long facies NOT_TRANSLATED +HP:0000276 Vertical Facial Excess NOT_TRANSLATED +HP:0000276 Vertical elongation of face NOT_TRANSLATED +HP:0000276 Vertical enlargement of face NOT_TRANSLATED +HP:0000276 Vertical excess of face NOT_TRANSLATED +HP:0000276 Vertical hyperplasia of face NOT_TRANSLATED +HP:0000276 Vertical overgrowth of face NOT_TRANSLATED +HP:0000277 Abnormality of the lower jaw bone NOT_TRANSLATED +HP:0000277 Abnormality of the mandible NOT_TRANSLATED +HP:0000277 Anomaly of the mandible NOT_TRANSLATED +HP:0000277 Deformity of the lower jaw bone NOT_TRANSLATED +HP:0000277 Deformity of the mandible NOT_TRANSLATED +HP:0000277 Malformation of the lower jaw bone NOT_TRANSLATED +HP:0000277 Malformation of the mandible NOT_TRANSLATED +HP:0000278 Lower jaw retrognathia NOT_TRANSLATED +HP:0000278 Receding chin NOT_TRANSLATED +HP:0000278 Receding lower jaw NOT_TRANSLATED +HP:0000278 Receding mandible NOT_TRANSLATED +HP:0000278 Retrogenia NOT_TRANSLATED +HP:0000278 Retrognathia of lower jaw NOT_TRANSLATED +HP:0000278 Weak chin NOT_TRANSLATED +HP:0000278 Weak jaw NOT_TRANSLATED +HP:0000280 Coarse face NOT_TRANSLATED +HP:0000280 Coarse facial appearance NOT_TRANSLATED +HP:0000280 Coarse facies NOT_TRANSLATED +HP:0000280 Rounded and heavy facial features NOT_TRANSLATED +HP:0000280 Thickened facial skin with coarse facial features NOT_TRANSLATED +HP:0000282 Facial oedema NOT_TRANSLATED +HP:0000282 Facial puffiness NOT_TRANSLATED +HP:0000282 Facial swelling NOT_TRANSLATED +HP:0000283 Broad facies NOT_TRANSLATED +HP:0000283 Horizontal excess of face NOT_TRANSLATED +HP:0000283 Horizontal hyperplasia of face NOT_TRANSLATED +HP:0000283 Increased breadth of face NOT_TRANSLATED +HP:0000283 Increased horizontal dimension of face NOT_TRANSLATED +HP:0000283 Increased transverse dimension of face NOT_TRANSLATED +HP:0000283 Increased width of face NOT_TRANSLATED +HP:0000283 Transverse excess of face NOT_TRANSLATED +HP:0000283 Transverse hyperplasia of face NOT_TRANSLATED +HP:0000283 Wide face NOT_TRANSLATED +HP:0000283 Wide facies NOT_TRANSLATED +HP:0000286 Epicanthal fold NOT_TRANSLATED +HP:0000286 Epicanthal folds NOT_TRANSLATED +HP:0000286 Epicanthic folds NOT_TRANSLATED +HP:0000286 Eye folds NOT_TRANSLATED +HP:0000286 Palpebronasal fold NOT_TRANSLATED +HP:0000286 Plica palpebronasalis NOT_TRANSLATED +HP:0000286 Prominent eye folds NOT_TRANSLATED +HP:0000287 Facial fat hyperplasia NOT_TRANSLATED +HP:0000287 Facial fat hypertrophy NOT_TRANSLATED +HP:0000287 Hyperplasia of facial adipose tissue NOT_TRANSLATED +HP:0000287 Hypertrophy of facial adipose tissue NOT_TRANSLATED +HP:0000287 Increased amount of facial adipose tissue NOT_TRANSLATED +HP:0000287 Increased amount of facial fat NOT_TRANSLATED +HP:0000287 Increased volume of facial adipose tissue NOT_TRANSLATED +HP:0000288 Abnormal philtrum NOT_TRANSLATED +HP:0000288 Abnormality of the infranasal depression NOT_TRANSLATED +HP:0000288 Abnormality of the paralabial region NOT_TRANSLATED +HP:0000289 Increased breadth of philtrum NOT_TRANSLATED +HP:0000289 Increased horizontal dimension of philtrum NOT_TRANSLATED +HP:0000289 Increased transverse dimension of philtrum NOT_TRANSLATED +HP:0000289 Increased width of philtrum NOT_TRANSLATED +HP:0000289 Wide philtrum NOT_TRANSLATED +HP:0000290 Abnormality of the frontal region of the face NOT_TRANSLATED +HP:0000290 Anomaly of the forehead NOT_TRANSLATED +HP:0000290 Deformity of the forehead NOT_TRANSLATED +HP:0000290 Malformation of the forehead NOT_TRANSLATED +HP:0000291 Abnormality of facial fat NOT_TRANSLATED +HP:0000291 Deformity of facial adipose tissue NOT_TRANSLATED +HP:0000291 Malformation of facial adipose tissue NOT_TRANSLATED +HP:0000292 Decreased amount of facial adipose tissue NOT_TRANSLATED +HP:0000292 Decreased amount of facial fat NOT_TRANSLATED +HP:0000292 Decreased volume of facial adipose tissue NOT_TRANSLATED +HP:0000292 Loss of facial fat NOT_TRANSLATED +HP:0000292 Loss of facial subcutaneous adipose tissue NOT_TRANSLATED +HP:0000292 Loss of subcutaneous adipose tissue from face NOT_TRANSLATED +HP:0000293 Apple cheeks NOT_TRANSLATED +HP:0000293 Big cheeks NOT_TRANSLATED +HP:0000293 Chubby cheeks NOT_TRANSLATED +HP:0000293 Hyperplasia of cheeks NOT_TRANSLATED +HP:0000293 Hypertrophy of cheeks NOT_TRANSLATED +HP:0000293 Increased size of cheeks NOT_TRANSLATED +HP:0000293 Large cheeks NOT_TRANSLATED +HP:0000293 Puffy cheeks NOT_TRANSLATED +HP:0000294 Low frontal hairline NOT_TRANSLATED +HP:0000294 Low-set frontal hairline NOT_TRANSLATED +HP:0000295 Popachtig gelaat voorkomen CANDIDATE +HP:0000297 Atony of facial musculature NOT_TRANSLATED +HP:0000297 Decreased facial muscle tone NOT_TRANSLATED +HP:0000297 Hypotonic facies NOT_TRANSLATED +HP:0000297 Low facial muscle tone NOT_TRANSLATED +HP:0000297 Reduced facial muscle tone NOT_TRANSLATED +HP:0000298 Amimia NOT_TRANSLATED +HP:0000298 Expressionless face NOT_TRANSLATED +HP:0000298 Lack of facial expression NOT_TRANSLATED +HP:0000298 Mask-like facial appearance NOT_TRANSLATED +HP:0000298 Masklike facies NOT_TRANSLATED +HP:0000300 Oval facial shape NOT_TRANSLATED +HP:0000300 Oval facies NOT_TRANSLATED +HP:0000301 Abnormality of facial muscles NOT_TRANSLATED +HP:0000301 Facial muscle issue NOT_TRANSLATED +HP:0000303 Big lower jaw NOT_TRANSLATED +HP:0000303 Big mandible NOT_TRANSLATED +HP:0000303 Enlarged mandible NOT_TRANSLATED +HP:0000303 Enlargement of mandible NOT_TRANSLATED +HP:0000303 Hyperplasia of lower jaw NOT_TRANSLATED +HP:0000303 Hypertrophy of lower jaw NOT_TRANSLATED +HP:0000303 Hypertrophy of mandible NOT_TRANSLATED +HP:0000303 Increased projection of lower jaw NOT_TRANSLATED +HP:0000303 Increased projection of mandible NOT_TRANSLATED +HP:0000303 Increased size of lower jaw NOT_TRANSLATED +HP:0000303 Increased size of mandible NOT_TRANSLATED +HP:0000303 Large lower jaw NOT_TRANSLATED +HP:0000303 Large mandible NOT_TRANSLATED +HP:0000303 Lower jaw excess NOT_TRANSLATED +HP:0000303 Lower jaw hyperplasia NOT_TRANSLATED +HP:0000303 Macromandible NOT_TRANSLATED +HP:0000303 Mandible prognathism NOT_TRANSLATED +HP:0000303 Mandibular excess NOT_TRANSLATED +HP:0000303 Mandibular hyperplasia NOT_TRANSLATED +HP:0000303 Mandibular macrognathia NOT_TRANSLATED +HP:0000303 Mandibular prognathism NOT_TRANSLATED +HP:0000303 Prognathia NOT_TRANSLATED +HP:0000303 Prognathism NOT_TRANSLATED +HP:0000303 Prominent chin NOT_TRANSLATED +HP:0000303 Prominent jaw NOT_TRANSLATED +HP:0000303 Prominent lower jaw NOT_TRANSLATED +HP:0000303 Prominent mandible NOT_TRANSLATED +HP:0000303 Relative mandibular prognathism NOT_TRANSLATED +HP:0000306 Abnormality of the menton NOT_TRANSLATED +HP:0000306 Anomaly of the chin NOT_TRANSLATED +HP:0000306 Deformity of the chin NOT_TRANSLATED +HP:0000306 Malformation of the chin NOT_TRANSLATED +HP:0000307 Pointed mention region NOT_TRANSLATED +HP:0000307 Pointy chin NOT_TRANSLATED +HP:0000307 Small pointed chin NOT_TRANSLATED +HP:0000307 Witch's chin NOT_TRANSLATED +HP:0000308 Retromicrognatie CANDIDATE +HP:0000309 Abnormal morphology of the midface NOT_TRANSLATED +HP:0000309 Abnormality of the midface NOT_TRANSLATED +HP:0000309 Anomaly of the midface NOT_TRANSLATED +HP:0000309 Deformity of the midface NOT_TRANSLATED +HP:0000309 Malformation of the midface NOT_TRANSLATED +HP:0000311 Circular face NOT_TRANSLATED +HP:0000311 Round facial appearance NOT_TRANSLATED +HP:0000311 Round facial shape NOT_TRANSLATED +HP:0000311 Round facies NOT_TRANSLATED +HP:0000311 Round, full face NOT_TRANSLATED +HP:0000315 Abnormality of the eye region NOT_TRANSLATED +HP:0000315 Abnormality of the region around the eyes NOT_TRANSLATED +HP:0000315 Anomaly of the orbital region of the face NOT_TRANSLATED +HP:0000315 Deformity of the orbital region of the face NOT_TRANSLATED +HP:0000315 Malformation of the orbital region of the face NOT_TRANSLATED +HP:0000316 Excessive orbital separation NOT_TRANSLATED +HP:0000316 Increased distance between eye sockets NOT_TRANSLATED +HP:0000316 Increased distance between eyes NOT_TRANSLATED +HP:0000316 Increased interpupillary distance NOT_TRANSLATED +HP:0000316 Ocular hypertelorism NOT_TRANSLATED +HP:0000316 Wide-set eyes NOT_TRANSLATED +HP:0000316 Widely spaced eyes NOT_TRANSLATED +HP:0000316 Widened interpupillary distance NOT_TRANSLATED +HP:0000317 Involuntary facial contraction NOT_TRANSLATED +HP:0000317 Involuntary facial quivering NOT_TRANSLATED +HP:0000319 Decreased depth of philtrum NOT_TRANSLATED +HP:0000319 Flat philtrum NOT_TRANSLATED +HP:0000319 Indistinct philtrum NOT_TRANSLATED +HP:0000319 Philtrum, smooth NOT_TRANSLATED +HP:0000319 Shallow philtrum NOT_TRANSLATED +HP:0000319 Simple philtrum NOT_TRANSLATED +HP:0000320 Bird-like facial appearance NOT_TRANSLATED +HP:0000321 Square facial shape NOT_TRANSLATED +HP:0000321 Square facies NOT_TRANSLATED +HP:0000322 Decreased height of philtrum NOT_TRANSLATED +HP:0000322 Decreased length of philtrum NOT_TRANSLATED +HP:0000322 Decreased vertical dimension of philtrum NOT_TRANSLATED +HP:0000322 Vertical hypoplasia of philtrum NOT_TRANSLATED +HP:0000324 Asymmetric facies NOT_TRANSLATED +HP:0000324 Asymmetry of face NOT_TRANSLATED +HP:0000324 Asymmetry of right and left side of face NOT_TRANSLATED +HP:0000324 Crooked face NOT_TRANSLATED +HP:0000324 Unbalanced face NOT_TRANSLATED +HP:0000324 Unequal sides of face NOT_TRANSLATED +HP:0000324 Uneven face NOT_TRANSLATED +HP:0000324 Uneven sides of face NOT_TRANSLATED +HP:0000324 Unsymmetrical face NOT_TRANSLATED +HP:0000325 Face with broad temples and narrow chin NOT_TRANSLATED +HP:0000325 Triangular facial shape NOT_TRANSLATED +HP:0000325 Triangular facies NOT_TRANSLATED +HP:0000326 Abnormality of the upper jaw bone NOT_TRANSLATED +HP:0000326 Abnormality of the upper jaw bones NOT_TRANSLATED +HP:0000326 Anomaly of the maxilla NOT_TRANSLATED +HP:0000326 Deformity of the maxilla NOT_TRANSLATED +HP:0000326 Deformity of the upper jaw bones NOT_TRANSLATED +HP:0000326 Malformation of the maxilla NOT_TRANSLATED +HP:0000326 Malformation of the upper jaw bones NOT_TRANSLATED +HP:0000327 Decreased projection of maxilla NOT_TRANSLATED +HP:0000327 Decreased projection of upper jaw NOT_TRANSLATED +HP:0000327 Decreased size of maxilla NOT_TRANSLATED +HP:0000327 Decreased size of upper jaw NOT_TRANSLATED +HP:0000327 Deficiency of upper jaw bones NOT_TRANSLATED +HP:0000327 Hypoplasia of upper jaw bones NOT_TRANSLATED +HP:0000327 Hypoplastic maxillary bones NOT_TRANSLATED +HP:0000327 Hypotrophic maxilla NOT_TRANSLATED +HP:0000327 Hypotrophic upper jaw bones NOT_TRANSLATED +HP:0000327 Maxillary deficiency NOT_TRANSLATED +HP:0000327 Maxillary hypoplasia NOT_TRANSLATED +HP:0000327 Maxillary micrognathia NOT_TRANSLATED +HP:0000327 Maxillary retrognathia NOT_TRANSLATED +HP:0000327 Maxillary retrusion NOT_TRANSLATED +HP:0000327 Micromaxilla NOT_TRANSLATED +HP:0000327 Retrognathia of upper jaw NOT_TRANSLATED +HP:0000327 Retrusion of upper jaw bones NOT_TRANSLATED +HP:0000327 Small maxilla NOT_TRANSLATED +HP:0000327 Small upper jaw NOT_TRANSLATED +HP:0000327 Small upper jaw bones NOT_TRANSLATED +HP:0000327 Upper jaw deficiency NOT_TRANSLATED +HP:0000327 Upper jaw retrusion NOT_TRANSLATED +HP:0000329 Facial hemangiomata NOT_TRANSLATED +HP:0000331 Decreased height of chin NOT_TRANSLATED +HP:0000331 Short lower third of face NOT_TRANSLATED +HP:0000331 Small chin NOT_TRANSLATED +HP:0000331 Vertical deficiency of chin NOT_TRANSLATED +HP:0000331 Vertical hypoplasia of chin NOT_TRANSLATED +HP:0000336 Hyperplasia of supraorbital margins NOT_TRANSLATED +HP:0000336 Hyperplasia of supraorbital ridge NOT_TRANSLATED +HP:0000336 Hypertrophy of supraorbital margins NOT_TRANSLATED +HP:0000336 Hypertrophy of supraorbital ridge NOT_TRANSLATED +HP:0000336 Prominent brow NOT_TRANSLATED +HP:0000336 Prominent supraorbital margins NOT_TRANSLATED +HP:0000336 Prominent supraorbital ridge NOT_TRANSLATED +HP:0000336 Protruding supraorbital ridge NOT_TRANSLATED +HP:0000336 Supraorbital hyperostosis NOT_TRANSLATED +HP:0000337 Bitemporal widening NOT_TRANSLATED +HP:0000337 Increased bitemporal dimension NOT_TRANSLATED +HP:0000337 Increased bitemporal width NOT_TRANSLATED +HP:0000337 Increased width of the forehead NOT_TRANSLATED +HP:0000337 Intertemporal widening NOT_TRANSLATED +HP:0000337 Wide forehead NOT_TRANSLATED +HP:0000338 Decreased facial expressions NOT_TRANSLATED +HP:0000338 Decreased facial muscle movement NOT_TRANSLATED +HP:0000338 Dull facial expression NOT_TRANSLATED +HP:0000338 Hypomimia NOT_TRANSLATED +HP:0000339 Boxer-like facial appearance NOT_TRANSLATED +HP:0000339 Pugilistic facial appearance NOT_TRANSLATED +HP:0000340 Inclined forehead NOT_TRANSLATED +HP:0000340 Posteriorly sloping forehead NOT_TRANSLATED +HP:0000340 Receding forehead NOT_TRANSLATED +HP:0000341 Bitemporal narrowing NOT_TRANSLATED +HP:0000341 Bitemporal narrowness NOT_TRANSLATED +HP:0000341 Bitemporal skull narrowing NOT_TRANSLATED +HP:0000341 Decreased width of the forehead NOT_TRANSLATED +HP:0000341 Intertemporal narrowing NOT_TRANSLATED +HP:0000341 Narrow bitemporal diameter NOT_TRANSLATED +HP:0000341 Narrow bitemporal width NOT_TRANSLATED +HP:0000341 Temporal narrowness NOT_TRANSLATED +HP:0000343 Elongated philtrum NOT_TRANSLATED +HP:0000343 Increased height of philtrum NOT_TRANSLATED +HP:0000343 Increased length of philtrum NOT_TRANSLATED +HP:0000343 Increased vertical dimension of philtrum NOT_TRANSLATED +HP:0000343 Vertical hyperplasia of philtrum NOT_TRANSLATED +HP:0000346 Whistling facial appearance NOT_TRANSLATED +HP:0000347 Decreased projection of lower jaw NOT_TRANSLATED +HP:0000347 Decreased projection of mandible NOT_TRANSLATED +HP:0000347 Decreased size of lower jaw NOT_TRANSLATED +HP:0000347 Decreased size of mandible NOT_TRANSLATED +HP:0000347 Deficiency of lower jaw NOT_TRANSLATED +HP:0000347 Hypoplasia of lower jaw NOT_TRANSLATED +HP:0000347 Hypoplasia of mandible NOT_TRANSLATED +HP:0000347 Hypoplastic mandible NOT_TRANSLATED +HP:0000347 Hypoplastic mandible condyle NOT_TRANSLATED +HP:0000347 Hypotrophic lower jaw NOT_TRANSLATED +HP:0000347 Hypotrophic mandible NOT_TRANSLATED +HP:0000347 Little lower jaw NOT_TRANSLATED +HP:0000347 Little mandible NOT_TRANSLATED +HP:0000347 Lower jaw deficiency NOT_TRANSLATED +HP:0000347 Lower jaw hypoplasia NOT_TRANSLATED +HP:0000347 Lower jaw retrusion NOT_TRANSLATED +HP:0000347 Mandibular deficiency NOT_TRANSLATED +HP:0000347 Mandibular hypoplasia NOT_TRANSLATED +HP:0000347 Mandibular micrognathia NOT_TRANSLATED +HP:0000347 Mandibular retrognathia NOT_TRANSLATED +HP:0000347 Mandibular retrusion NOT_TRANSLATED +HP:0000347 Micrognathia of lower jaw NOT_TRANSLATED +HP:0000347 Micromandible NOT_TRANSLATED +HP:0000347 Retrusion of lower jaw NOT_TRANSLATED +HP:0000347 Robin mandible NOT_TRANSLATED +HP:0000347 Severe hypoplasia of mandible NOT_TRANSLATED +HP:0000347 Small jaw NOT_TRANSLATED +HP:0000347 Small lower jaw NOT_TRANSLATED +HP:0000347 Small mandible NOT_TRANSLATED +HP:0000347 Underdevelopment of lower jaw NOT_TRANSLATED +HP:0000347 Underdevelopment of mandible NOT_TRANSLATED +HP:0000348 Tall forehead NOT_TRANSLATED +HP:0000349 Hairline peak NOT_TRANSLATED +HP:0000349 Hairline point NOT_TRANSLATED +HP:0000349 Pointed frontal hairline NOT_TRANSLATED +HP:0000349 Pointed hairline at front of head NOT_TRANSLATED +HP:0000349 V-shaped frontal hairline NOT_TRANSLATED +HP:0000350 Decreased size of forehead NOT_TRANSLATED +HP:0000350 Decreased size of frontal region of face NOT_TRANSLATED +HP:0000350 Hypoplasia of forehead NOT_TRANSLATED +HP:0000350 Hypotrophic forehead NOT_TRANSLATED +HP:0000356 Abnormal pinnae NOT_TRANSLATED +HP:0000356 Abnormality of the auricle NOT_TRANSLATED +HP:0000356 Abnormality of the external ear NOT_TRANSLATED +HP:0000356 Ear anomalies NOT_TRANSLATED +HP:0000356 External ear malformations NOT_TRANSLATED +HP:0000356 Malformed pinnae NOT_TRANSLATED +HP:0000356 Outer ear abnormality NOT_TRANSLATED +HP:0000357 External ear position defect NOT_TRANSLATED +HP:0000358 Ear, posterior angulation, increased NOT_TRANSLATED +HP:0000358 Ears rotated toward back of head NOT_TRANSLATED +HP:0000358 Posteriorly angulated ears NOT_TRANSLATED +HP:0000358 Posteriorly rotated NOT_TRANSLATED +HP:0000358 Posteriorly rotated auricles NOT_TRANSLATED +HP:0000358 Posteriorly-angulated ears NOT_TRANSLATED +HP:0000358 Posteriorly-rotated ears NOT_TRANSLATED +HP:0000359 Inner ear abnormality NOT_TRANSLATED +HP:0000360 Ringing in ears NOT_TRANSLATED +HP:0000360 Ringing in the ears NOT_TRANSLATED +HP:0000363 Abnormal earlobe NOT_TRANSLATED +HP:0000363 Abnormal lobe of ear NOT_TRANSLATED +HP:0000363 Abnormality of auricular lobule NOT_TRANSLATED +HP:0000363 Abnormality of ear lobe NOT_TRANSLATED +HP:0000363 Abnormality of earlobe NOT_TRANSLATED +HP:0000363 Abnormality of lobulus auriculae NOT_TRANSLATED +HP:0000364 Abnormal hearing NOT_TRANSLATED +HP:0000365 Deafness NOT_TRANSLATED +HP:0000365 Hearing defect NOT_TRANSLATED +HP:0000365 Hearing loss NOT_TRANSLATED +HP:0000365 Hypacusis NOT_TRANSLATED +HP:0000365 Hypoacusis NOT_TRANSLATED +HP:0000366 Anomaly of the nose NOT_TRANSLATED +HP:0000366 Deformity of the nose NOT_TRANSLATED +HP:0000366 Malformation of the nose NOT_TRANSLATED +HP:0000366 Nasal abnormality NOT_TRANSLATED +HP:0000366 Nasal anomaly NOT_TRANSLATED +HP:0000366 Nasal deformity NOT_TRANSLATED +HP:0000366 Nasal malformation NOT_TRANSLATED +HP:0000368 Low-set posteriorly rotated ears NOT_TRANSLATED +HP:0000369 Low set ears NOT_TRANSLATED +HP:0000369 Low-set pinnae NOT_TRANSLATED +HP:0000369 Lowset ears NOT_TRANSLATED +HP:0000369 Melotia NOT_TRANSLATED +HP:0000370 Middle ear abnormalities NOT_TRANSLATED +HP:0000370 Middle ear abnormality NOT_TRANSLATED +HP:0000371 Acute middle ear infection NOT_TRANSLATED +HP:0000372 Auditory canal abnormality NOT_TRANSLATED +HP:0000375 Abnormality of cochlea NOT_TRANSLATED +HP:0000376 Cochlear malformation defect (Mondini dysplasia) NOT_TRANSLATED +HP:0000376 Mondini defect NOT_TRANSLATED +HP:0000376 Mondini dysplasia NOT_TRANSLATED +HP:0000376 Mondini malformation NOT_TRANSLATED +HP:0000377 Abnormal form of ears NOT_TRANSLATED +HP:0000377 Abnormally shaped ears NOT_TRANSLATED +HP:0000377 Auricular malformation NOT_TRANSLATED +HP:0000377 Deformed auricles NOT_TRANSLATED +HP:0000377 Deformed ears NOT_TRANSLATED +HP:0000377 Dysplastic ears NOT_TRANSLATED +HP:0000377 Malformation of auricle NOT_TRANSLATED +HP:0000377 Malformed auricles NOT_TRANSLATED +HP:0000377 Malformed ears NOT_TRANSLATED +HP:0000377 Malformed external ears NOT_TRANSLATED +HP:0000377 Minor malformation of the auricles NOT_TRANSLATED +HP:0000377 Poorly defined conchae NOT_TRANSLATED +HP:0000378 Capuchin ears NOT_TRANSLATED +HP:0000378 Cup-shaped ears NOT_TRANSLATED +HP:0000378 Cupped ears NOT_TRANSLATED +HP:0000378 Simple, cup-shaped ears NOT_TRANSLATED +HP:0000381 Stapes fixation NOT_TRANSLATED +HP:0000383 Abnormality of periauricular region NOT_TRANSLATED +HP:0000383 Abnormality of the region around the ear NOT_TRANSLATED +HP:0000383 Anomaly of the periauricular region NOT_TRANSLATED +HP:0000383 Deformity of the periauricular region NOT_TRANSLATED +HP:0000383 Malformation of the periauricular region NOT_TRANSLATED +HP:0000384 Ear tag NOT_TRANSLATED +HP:0000384 Periauricular skin tag NOT_TRANSLATED +HP:0000384 Preauricular acrochordon NOT_TRANSLATED +HP:0000384 Preauricular fibroepithelial polyp NOT_TRANSLATED +HP:0000384 Preauricular skin tags NOT_TRANSLATED +HP:0000384 Preauricular tag NOT_TRANSLATED +HP:0000384 Preauricular tags NOT_TRANSLATED +HP:0000384 Skin tag in front of the ear NOT_TRANSLATED +HP:0000384 Skin tag on the posterior cheek NOT_TRANSLATED +HP:0000385 Hypoplastic earlobes NOT_TRANSLATED +HP:0000385 Hypoplastic lobules NOT_TRANSLATED +HP:0000385 Small earlobes NOT_TRANSLATED +HP:0000387 Absent ear lobes NOT_TRANSLATED +HP:0000387 Earlobe, absent NOT_TRANSLATED +HP:0000387 Lobeless ears NOT_TRANSLATED +HP:0000387 Lobule aplasia NOT_TRANSLATED +HP:0000388 Middle ear infection NOT_TRANSLATED +HP:0000389 Chronic ear infection NOT_TRANSLATED +HP:0000389 Chronic infections of the middle ear NOT_TRANSLATED +HP:0000389 Chronic middle ear infection NOT_TRANSLATED +HP:0000389 Otitis media, chronic NOT_TRANSLATED +HP:0000391 Thick helix NOT_TRANSLATED +HP:0000396 Over-folded helices NOT_TRANSLATED +HP:0000396 Overfolded ears NOT_TRANSLATED +HP:0000396 Overfolded helices NOT_TRANSLATED +HP:0000399 Deafness, sensorineural, prelingual NOT_TRANSLATED +HP:0000399 Prelingual sensorineural deafness NOT_TRANSLATED +HP:0000400 Large ears NOT_TRANSLATED +HP:0000400 Large pinnae NOT_TRANSLATED +HP:0000402 External auditory canal stenosis NOT_TRANSLATED +HP:0000402 Narrow auditory canals NOT_TRANSLATED +HP:0000402 Narrow ear canal NOT_TRANSLATED +HP:0000402 Narrow external auditory canals NOT_TRANSLATED +HP:0000402 Narrow external auditory meatus NOT_TRANSLATED +HP:0000402 Narrowing of passageway from outer ear to middle ear NOT_TRANSLATED +HP:0000402 Stenotic external auditory canal NOT_TRANSLATED +HP:0000403 Frequent otitis media NOT_TRANSLATED +HP:0000403 Multiple episodes of otitis media NOT_TRANSLATED +HP:0000403 Otitis media, recurrent NOT_TRANSLATED +HP:0000403 Recurrent episodes of otitis media NOT_TRANSLATED +HP:0000403 Recurrent middle ear infection NOT_TRANSLATED +HP:0000403 Susceptibility to otitis media NOT_TRANSLATED +HP:0000405 Conduction deafness NOT_TRANSLATED +HP:0000405 Conductive deafness NOT_TRANSLATED +HP:0000405 Conductive hearing loss NOT_TRANSLATED +HP:0000405 Hearing loss, conductive NOT_TRANSLATED +HP:0000407 Hearing loss, sensorineural NOT_TRANSLATED +HP:0000407 Sensorineural deafness NOT_TRANSLATED +HP:0000407 Sensorineural hearing loss NOT_TRANSLATED +HP:0000408 Bilateral progressive sensorineural hearing loss NOT_TRANSLATED +HP:0000408 Hearing loss, progressive sensorineural NOT_TRANSLATED +HP:0000408 Hearing loss, sensorineural, bilateral, progressive NOT_TRANSLATED +HP:0000408 Hearing loss, sensorineural, progressive NOT_TRANSLATED +HP:0000408 Progressive bilateral sensorineural hearing loss NOT_TRANSLATED +HP:0000408 Sensorineural hearing loss, progressive NOT_TRANSLATED +HP:0000410 Hearing loss, mixed NOT_TRANSLATED +HP:0000410 Mixed hearing loss NOT_TRANSLATED +HP:0000411 Prominent ear NOT_TRANSLATED +HP:0000411 Prominent ears NOT_TRANSLATED +HP:0000411 Protruding ears NOT_TRANSLATED +HP:0000413 Absent auditory canals NOT_TRANSLATED +HP:0000413 Absent ear canal NOT_TRANSLATED +HP:0000413 Absent external auditory canals NOT_TRANSLATED +HP:0000413 Atresia of the external auditory canals NOT_TRANSLATED +HP:0000413 Atretic auditory canal NOT_TRANSLATED +HP:0000413 Atretic auditory canals NOT_TRANSLATED +HP:0000413 Atretic external auditory canal NOT_TRANSLATED +HP:0000413 Atretic external auditory canals NOT_TRANSLATED +HP:0000413 Auditory canal atresia NOT_TRANSLATED +HP:0000413 External acoustic meatus atresia NOT_TRANSLATED +HP:0000413 External auditory canal atresia NOT_TRANSLATED +HP:0000413 External auditory meatal atresia NOT_TRANSLATED +HP:0000413 External auditory meatus atresia NOT_TRANSLATED +HP:0000414 Bulbous nasal tip NOT_TRANSLATED +HP:0000414 Potato nose NOT_TRANSLATED +HP:0000418 Decreased width of dorsum of nose NOT_TRANSLATED +HP:0000418 Decreased width of nasal dorsum NOT_TRANSLATED +HP:0000418 Decreased width of nasal ridge NOT_TRANSLATED +HP:0000418 Narrow dorsum of nose NOT_TRANSLATED +HP:0000418 Narrow nasal dorsum NOT_TRANSLATED +HP:0000418 Pinched nose NOT_TRANSLATED +HP:0000418 Thin dorsum of nose NOT_TRANSLATED +HP:0000418 Thin nasal dorsum NOT_TRANSLATED +HP:0000418 Thin nasal ridge NOT_TRANSLATED +HP:0000419 Abnormality of septum of nose NOT_TRANSLATED +HP:0000419 Abnormality of the nasal septum NOT_TRANSLATED +HP:0000419 Anomaly of nasal septum NOT_TRANSLATED +HP:0000419 Anomaly of septum of nose NOT_TRANSLATED +HP:0000420 Decreased length of nasal septum NOT_TRANSLATED +HP:0000420 Decreased length of septum of nose NOT_TRANSLATED +HP:0000420 Short septum of nose NOT_TRANSLATED +HP:0000421 Bloody nose NOT_TRANSLATED +HP:0000421 Frequent nosebleeds NOT_TRANSLATED +HP:0000421 Nasal haemorrhage NOT_TRANSLATED +HP:0000421 Nasal hemorrhage NOT_TRANSLATED +HP:0000421 Nose bleed NOT_TRANSLATED +HP:0000421 Nose bleeding NOT_TRANSLATED +HP:0000421 Nosebleed NOT_TRANSLATED +HP:0000422 Abnormality of the bridge of the nose NOT_TRANSLATED +HP:0000422 Abnormality of the nasal bridge NOT_TRANSLATED +HP:0000422 Abnormality of the nasal root NOT_TRANSLATED +HP:0000422 Deformity of the bridge of the nose NOT_TRANSLATED +HP:0000422 Deformity of the nasal bridge NOT_TRANSLATED +HP:0000422 Malformation of the bridge of the nose NOT_TRANSLATED +HP:0000422 Malformation of the nasal bridge NOT_TRANSLATED +HP:0000426 Convex bridge of nose NOT_TRANSLATED +HP:0000426 Convex nasal bridge NOT_TRANSLATED +HP:0000426 Elevated nasal bridge NOT_TRANSLATED +HP:0000426 High nasal bridge NOT_TRANSLATED +HP:0000426 Prominent bridge of nose NOT_TRANSLATED +HP:0000426 Prominent nasal root NOT_TRANSLATED +HP:0000426 Protruding bridge of nose NOT_TRANSLATED +HP:0000426 Protruding nasal bridge NOT_TRANSLATED +HP:0000429 Abnormality of the nasal ala NOT_TRANSLATED +HP:0000429 Abnormality of the nasal alae NOT_TRANSLATED +HP:0000429 Abnormality of the nasal alar cartilage NOT_TRANSLATED +HP:0000429 Deformity of the nasal ala NOT_TRANSLATED +HP:0000429 Deformity of the nasal alar cartilage NOT_TRANSLATED +HP:0000429 Malformation of the nasal ala NOT_TRANSLATED +HP:0000429 Malformation of the nasal alar cartilage NOT_TRANSLATED +HP:0000430 Ala nasi, underdeveloped NOT_TRANSLATED +HP:0000430 Alar cartilage hypoplasia NOT_TRANSLATED +HP:0000430 Decreased size of nasal alae NOT_TRANSLATED +HP:0000430 Hypoplastic alae nasae NOT_TRANSLATED +HP:0000430 Hypoplastic alae nasi NOT_TRANSLATED +HP:0000430 Hypoplastic alar cartilage NOT_TRANSLATED +HP:0000430 Hypoplastic alar nasae NOT_TRANSLATED +HP:0000430 Hypoplastic nares NOT_TRANSLATED +HP:0000430 Hypoplastic nasal alae NOT_TRANSLATED +HP:0000430 Hypoplastic nasal wings NOT_TRANSLATED +HP:0000430 Hypoplastic nostrils NOT_TRANSLATED +HP:0000430 Nasal cartilage hypoplasia NOT_TRANSLATED +HP:0000430 Small nasal alae NOT_TRANSLATED +HP:0000430 Thin hypoplastic alae nasi NOT_TRANSLATED +HP:0000430 Underdeveloped tissue around nostril NOT_TRANSLATED +HP:0000431 Broad flat nasal bridge NOT_TRANSLATED +HP:0000431 Broad nasal bridge NOT_TRANSLATED +HP:0000431 Broad nasal root NOT_TRANSLATED +HP:0000431 Broadened nasal bridge NOT_TRANSLATED +HP:0000431 Increased breadth of bridge of nose NOT_TRANSLATED +HP:0000431 Increased breadth of nasal bridge NOT_TRANSLATED +HP:0000431 Increased width of bridge of nose NOT_TRANSLATED +HP:0000431 Increased width of nasal bridge NOT_TRANSLATED +HP:0000431 Nasal bridge broad NOT_TRANSLATED +HP:0000431 Nasal bridge, wide NOT_TRANSLATED +HP:0000431 Wide bridge of nose NOT_TRANSLATED +HP:0000431 Widened nasal bridge NOT_TRANSLATED +HP:0000433 Abnormality of mucosa of nose NOT_TRANSLATED +HP:0000433 Abnormality of mucous membrane of nose NOT_TRANSLATED +HP:0000433 Abnormality of nasal mucous membrane NOT_TRANSLATED +HP:0000433 Abnormality of the nasal mucosa NOT_TRANSLATED +HP:0000434 Angioectasia of mucosa of nose NOT_TRANSLATED +HP:0000434 Angioectasia of mucous membrane of nose NOT_TRANSLATED +HP:0000434 Angioectasia of nasal mucous membrane NOT_TRANSLATED +HP:0000434 Nasal mucous membrane telangiectasia NOT_TRANSLATED +HP:0000434 Spider veins of mucosa of nose NOT_TRANSLATED +HP:0000434 Spider veins of mucous membrane of nose NOT_TRANSLATED +HP:0000434 Spider veins of nasal mucous membrane NOT_TRANSLATED +HP:0000434 Telangiectasia of mucosa of nose NOT_TRANSLATED +HP:0000434 Telangiectasia of mucous membrane of nose NOT_TRANSLATED +HP:0000434 Telangiectasia of nasal mucous membrane NOT_TRANSLATED +HP:0000436 Abnormality of the nasal tip NOT_TRANSLATED +HP:0000436 Abnormality of tip of nose NOT_TRANSLATED +HP:0000436 Deformity of the nasal tip NOT_TRANSLATED +HP:0000436 Deformity of tip of nose NOT_TRANSLATED +HP:0000436 Malformation of the nasal tip NOT_TRANSLATED +HP:0000436 Malformation of tip of nose NOT_TRANSLATED +HP:0000437 Caved in nasal tip NOT_TRANSLATED +HP:0000437 Depressed tip of nose NOT_TRANSLATED +HP:0000437 Flat nasal tip NOT_TRANSLATED +HP:0000437 Flat tip of nose NOT_TRANSLATED +HP:0000437 Flattened nasal tip NOT_TRANSLATED +HP:0000437 Nasal tip, depressed NOT_TRANSLATED +HP:0000437 Nasal tip, recessed NOT_TRANSLATED +HP:0000437 Nasal tip, retruded NOT_TRANSLATED +HP:0000437 Retruded tip of nose NOT_TRANSLATED +HP:0000444 Beaked nose NOT_TRANSLATED +HP:0000444 Beaklike protrusion NOT_TRANSLATED +HP:0000444 Convex dorsum of nose NOT_TRANSLATED +HP:0000444 Convex nasal dorsum NOT_TRANSLATED +HP:0000444 Hooked nose NOT_TRANSLATED +HP:0000444 Polly beak nasal deformity NOT_TRANSLATED +HP:0000445 Broad nose NOT_TRANSLATED +HP:0000445 Increased breadth of nose NOT_TRANSLATED +HP:0000445 Increased nasal breadth NOT_TRANSLATED +HP:0000445 Increased nasal width NOT_TRANSLATED +HP:0000445 Increased width of nose NOT_TRANSLATED +HP:0000446 Narrow bridge of nose NOT_TRANSLATED +HP:0000446 Narrow nasal root NOT_TRANSLATED +HP:0000446 Nasal Bridge, Narrow NOT_TRANSLATED +HP:0000446 Nasal bridge, thin NOT_TRANSLATED +HP:0000446 Pinched bridge of nose NOT_TRANSLATED +HP:0000446 Pinched nasal bridge NOT_TRANSLATED +HP:0000448 Big nose NOT_TRANSLATED +HP:0000448 Disproportionately large nose NOT_TRANSLATED +HP:0000448 Hyperplasia of nose NOT_TRANSLATED +HP:0000448 Hypertrophy of nose NOT_TRANSLATED +HP:0000448 Increased nasal size NOT_TRANSLATED +HP:0000448 Increased size of nose NOT_TRANSLATED +HP:0000448 Large nose NOT_TRANSLATED +HP:0000448 Nasal hyperplasia NOT_TRANSLATED +HP:0000448 Nasal hypertrophy NOT_TRANSLATED +HP:0000448 Pronounced nose NOT_TRANSLATED +HP:0000451 Triangular shaped tip of nose NOT_TRANSLATED +HP:0000452 Coanal stenosis NOT_TRANSLATED +HP:0000452 Narrowing of the rear opening of the nasal cavity NOT_TRANSLATED +HP:0000453 Blockage of the rear opening of the nasal cavity NOT_TRANSLATED +HP:0000454 Flared nasal alae NOT_TRANSLATED +HP:0000455 Broad tip of nose NOT_TRANSLATED +HP:0000455 Broad upturned nose NOT_TRANSLATED +HP:0000455 Broad, upturned nose NOT_TRANSLATED +HP:0000455 Increased breadth of nasal tip NOT_TRANSLATED +HP:0000455 Increased breadth of tip of nose NOT_TRANSLATED +HP:0000455 Increased width of nasal tip NOT_TRANSLATED +HP:0000455 Increased width of tip of nose NOT_TRANSLATED +HP:0000455 Nasal tip, broad NOT_TRANSLATED +HP:0000455 Nasal tip, wide NOT_TRANSLATED +HP:0000455 Wide tip of nose NOT_TRANSLATED +HP:0000456 Bifid tip of nose NOT_TRANSLATED +HP:0000456 Cleft nasal tip NOT_TRANSLATED +HP:0000456 Cleft tip of nose NOT_TRANSLATED +HP:0000456 Notched nasal tip NOT_TRANSLATED +HP:0000456 Notched tip of nose NOT_TRANSLATED +HP:0000457 Depressed dorsum of nose NOT_TRANSLATED +HP:0000457 Depressed nasal dorsum NOT_TRANSLATED +HP:0000457 Flat dorsum of nose NOT_TRANSLATED +HP:0000457 Flat nasal dorsum NOT_TRANSLATED +HP:0000457 Flat nose NOT_TRANSLATED +HP:0000457 Recessed dorsum of nose NOT_TRANSLATED +HP:0000457 Recessed nasal dorsum NOT_TRANSLATED +HP:0000457 Recessed nasal ridge NOT_TRANSLATED +HP:0000457 Retruded dorsum of nose NOT_TRANSLATED +HP:0000457 Retruded nasal dorsum NOT_TRANSLATED +HP:0000457 Retruded nasal ridge NOT_TRANSLATED +HP:0000458 Loss of smell NOT_TRANSLATED +HP:0000458 Lost smell NOT_TRANSLATED +HP:0000460 Decreased nasal breadth NOT_TRANSLATED +HP:0000460 Decreased nasal width NOT_TRANSLATED +HP:0000460 Thin nose NOT_TRANSLATED +HP:0000463 Anteverted nose NOT_TRANSLATED +HP:0000463 Anteverted nostrils NOT_TRANSLATED +HP:0000463 Nasal tip, upturned NOT_TRANSLATED +HP:0000463 Nostrils anteverted NOT_TRANSLATED +HP:0000463 Upturned nares NOT_TRANSLATED +HP:0000463 Upturned nasal tip NOT_TRANSLATED +HP:0000463 Upturned nasal tips NOT_TRANSLATED +HP:0000463 Upturned nose NOT_TRANSLATED +HP:0000463 Upturned nostrils NOT_TRANSLATED +HP:0000464 Anomaly of the neck NOT_TRANSLATED +HP:0000464 Deformity of the neck NOT_TRANSLATED +HP:0000464 Malformation of the neck NOT_TRANSLATED +HP:0000465 Neck webbing NOT_TRANSLATED +HP:0000465 Pterygium colli NOT_TRANSLATED +HP:0000466 Limited cervical range of motion NOT_TRANSLATED +HP:0000467 Flaccid neck NOT_TRANSLATED +HP:0000467 Floppy neck NOT_TRANSLATED +HP:0000468 Increased fat around the neck NOT_TRANSLATED +HP:0000470 Cervical shortening NOT_TRANSLATED +HP:0000470 Decreased cervical height NOT_TRANSLATED +HP:0000470 Decreased cervical length NOT_TRANSLATED +HP:0000470 Decreased length of neck NOT_TRANSLATED +HP:0000471 GI angiodysplasia NOT_TRANSLATED +HP:0000472 Cervical elongation NOT_TRANSLATED +HP:0000472 Elongated neck NOT_TRANSLATED +HP:0000472 Increased cervical length NOT_TRANSLATED +HP:0000472 Increased length of neck NOT_TRANSLATED +HP:0000473 Cervical dystonia NOT_TRANSLATED +HP:0000473 Loxia NOT_TRANSLATED +HP:0000473 Spasmodic torticollis NOT_TRANSLATED +HP:0000473 Wry neck NOT_TRANSLATED +HP:0000474 Excess nuchal skin NOT_TRANSLATED +HP:0000474 Increased nuchal fold NOT_TRANSLATED +HP:0000474 Increased nuchal fold thickness NOT_TRANSLATED +HP:0000474 Thick nuchal fold NOT_TRANSLATED +HP:0000474 Thickened nuchal skin NOT_TRANSLATED +HP:0000474 Thickened skin folds of neck NOT_TRANSLATED +HP:0000474 Thickened skin over the neck NOT_TRANSLATED +HP:0000475 Increased width of neck NOT_TRANSLATED +HP:0000475 Thick neck NOT_TRANSLATED +HP:0000475 Wide neck NOT_TRANSLATED +HP:0000476 Cystic hygroma of the neck NOT_TRANSLATED +HP:0000478 Abnormal eye NOT_TRANSLATED +HP:0000478 Eye disease NOT_TRANSLATED +HP:0000479 Abnormal retina NOT_TRANSLATED +HP:0000479 Abnormality of the retina NOT_TRANSLATED +HP:0000479 Anomaly of the retina NOT_TRANSLATED +HP:0000479 Retina issue NOT_TRANSLATED +HP:0000479 Retinal disease NOT_TRANSLATED +HP:0000480 Hole in the back of the eye NOT_TRANSLATED +HP:0000481 Abnormality of the cornea NOT_TRANSLATED +HP:0000481 Corneal abnormalities NOT_TRANSLATED +HP:0000481 Corneal abnormality NOT_TRANSLATED +HP:0000481 Cornela disease NOT_TRANSLATED +HP:0000482 Cornea of eye less than 10mm in diameter NOT_TRANSLATED +HP:0000482 Decreased corneal diameter NOT_TRANSLATED +HP:0000483 Abnormal curving of the cornea or lens of the eye NOT_TRANSLATED +HP:0000485 Anterior megalophthalmos NOT_TRANSLATED +HP:0000485 Enlarged cornea NOT_TRANSLATED +HP:0000485 Increased corneal diameter NOT_TRANSLATED +HP:0000485 Macrocornea NOT_TRANSLATED +HP:0000486 Cross-eyed NOT_TRANSLATED +HP:0000486 Squint NOT_TRANSLATED +HP:0000486 Squint eyes NOT_TRANSLATED +HP:0000488 Noninflammatory retina disease NOT_TRANSLATED +HP:0000490 Deep set eye NOT_TRANSLATED +HP:0000490 Deep-set eyes NOT_TRANSLATED +HP:0000490 Enophthalmos NOT_TRANSLATED +HP:0000490 Ocular depression NOT_TRANSLATED +HP:0000490 Sunken eye NOT_TRANSLATED +HP:0000490 Sunken eyes NOT_TRANSLATED +HP:0000491 Corneal inflammation NOT_TRANSLATED +HP:0000492 Abnormality of the eyelid NOT_TRANSLATED +HP:0000492 Abnormality of the eyelids NOT_TRANSLATED +HP:0000493 Abnormality of the fovea NOT_TRANSLATED +HP:0000494 Antimongoloid eye slant NOT_TRANSLATED +HP:0000494 Antimongoloid slant of palpebral fissures NOT_TRANSLATED +HP:0000494 Antimongoloid slanted palpebral fissures NOT_TRANSLATED +HP:0000494 Down slanting palpebral fissures NOT_TRANSLATED +HP:0000494 Down-slanted palpebral fissures NOT_TRANSLATED +HP:0000494 Down-slanting palpebral fissure NOT_TRANSLATED +HP:0000494 Down-slanting palpebral fissures NOT_TRANSLATED +HP:0000494 Downslanting palpebral fissure NOT_TRANSLATED +HP:0000494 Downslanting palpebral fissures NOT_TRANSLATED +HP:0000494 Downward slanted palpebral fissures NOT_TRANSLATED +HP:0000494 Downward slanting of the opening between the eyelids NOT_TRANSLATED +HP:0000494 Downward slanting palpebral fissures NOT_TRANSLATED +HP:0000494 Downward-slanting palpebral fissures NOT_TRANSLATED +HP:0000494 Palpebral fissures down-slanted NOT_TRANSLATED +HP:0000495 Corneal erosions, recurrent NOT_TRANSLATED +HP:0000495 Epithelial corneal erosions NOT_TRANSLATED +HP:0000495 Recurrent breakdown of clear protective layer of eye NOT_TRANSLATED +HP:0000495 Recurrent corneal ulceration NOT_TRANSLATED +HP:0000495 Recurrent corneal ulcerations NOT_TRANSLATED +HP:0000496 Abnormal extraocular movement NOT_TRANSLATED +HP:0000496 Abnormal extraocular movements NOT_TRANSLATED +HP:0000496 Abnormal eye motility NOT_TRANSLATED +HP:0000496 Abnormal eye movement NOT_TRANSLATED +HP:0000496 Abnormal eye movements NOT_TRANSLATED +HP:0000496 Abnormal motility of the globe of the eye NOT_TRANSLATED +HP:0000496 Abnormal movement of the globe of the eye NOT_TRANSLATED +HP:0000496 Abnormal ocular movements NOT_TRANSLATED +HP:0000496 Eye movement abnormalities NOT_TRANSLATED +HP:0000496 Eye movement issue NOT_TRANSLATED +HP:0000496 Ocular movement abnormalities NOT_TRANSLATED +HP:0000496 Oculomotor abnormalities NOT_TRANSLATED +HP:0000498 Cellulitis of eyelids NOT_TRANSLATED +HP:0000498 Inflammation of eyelids NOT_TRANSLATED +HP:0000499 Abnormal eyelashes NOT_TRANSLATED +HP:0000499 Abnormality of the eyelashes NOT_TRANSLATED +HP:0000499 Eyelash abnormality NOT_TRANSLATED +HP:0000504 Abnormality of sight NOT_TRANSLATED +HP:0000504 Vision issue NOT_TRANSLATED +HP:0000505 Impaired vision NOT_TRANSLATED +HP:0000505 Loss of eyesight NOT_TRANSLATED +HP:0000505 Poor vision NOT_TRANSLATED +HP:0000506 Corners of eye widely separated NOT_TRANSLATED +HP:0000506 Dystopia canthorum NOT_TRANSLATED +HP:0000506 Increased distance between medial canthi NOT_TRANSLATED +HP:0000506 Increased intercanthal distance NOT_TRANSLATED +HP:0000508 Blepharoptosis NOT_TRANSLATED +HP:0000508 Drooping upper eyelid NOT_TRANSLATED +HP:0000508 Eye drop NOT_TRANSLATED +HP:0000508 Eyelid ptosis NOT_TRANSLATED +HP:0000509 Conjunctivitis, recurrent NOT_TRANSLATED +HP:0000509 Pink eye NOT_TRANSLATED +HP:0000510 Retinitis pigmentosa NOT_TRANSLATED +HP:0000510 Rod cone dystrophy NOT_TRANSLATED +HP:0000511 Vertical gaze palsy NOT_TRANSLATED +HP:0000512 Abnormal ERG NOT_TRANSLATED +HP:0000512 Abnormal electroretinography NOT_TRANSLATED +HP:0000512 ERG abnormal NOT_TRANSLATED +HP:0000514 Slow eye movements NOT_TRANSLATED +HP:0000514 Slow saccades NOT_TRANSLATED +HP:0000514 Slow visual tracking NOT_TRANSLATED +HP:0000517 Abnormality of the lens NOT_TRANSLATED +HP:0000517 Lens disease NOT_TRANSLATED +HP:0000517 Lens issue NOT_TRANSLATED +HP:0000518 Cataracts NOT_TRANSLATED +HP:0000518 Clouding of the lens of the eye NOT_TRANSLATED +HP:0000518 Cloudy lens NOT_TRANSLATED +HP:0000518 Lens opacities NOT_TRANSLATED +HP:0000518 Lens opacity NOT_TRANSLATED +HP:0000519 Bilateral congenital cataracts NOT_TRANSLATED +HP:0000519 Cataract, congenital NOT_TRANSLATED +HP:0000519 Clouding of the lens of the eye at birth NOT_TRANSLATED +HP:0000519 Congenital cataract NOT_TRANSLATED +HP:0000519 Congenital cataracts NOT_TRANSLATED +HP:0000519 Congenital cataracts, bilateral NOT_TRANSLATED +HP:0000520 Anterior bulging of the globe NOT_TRANSLATED +HP:0000520 Anterior bulging of the globe of eye NOT_TRANSLATED +HP:0000520 Bulging eye NOT_TRANSLATED +HP:0000520 Exophthalmos NOT_TRANSLATED +HP:0000520 Eyeballs bulging out NOT_TRANSLATED +HP:0000520 Ocular proptosis NOT_TRANSLATED +HP:0000520 Prominent eyes NOT_TRANSLATED +HP:0000520 Prominent globes NOT_TRANSLATED +HP:0000520 Protruding eyes NOT_TRANSLATED +HP:0000520 Protrusio bulbi NOT_TRANSLATED +HP:0000522 Absence of tears in the eyes NOT_TRANSLATED +HP:0000522 Absent lacrimal fluids NOT_TRANSLATED +HP:0000522 Absent tear secretion NOT_TRANSLATED +HP:0000523 Subcapsular cataracts NOT_TRANSLATED +HP:0000523 Subcapsular lenticular cataracts NOT_TRANSLATED +HP:0000523 Subcapsular opacities NOT_TRANSLATED +HP:0000524 Conjunctival telangiectases NOT_TRANSLATED +HP:0000524 Small dilated blood vessels near membrane covering front of eye and eyelids NOT_TRANSLATED +HP:0000524 Telangiectasia, conjunctival NOT_TRANSLATED +HP:0000525 Abnormality of the iris NOT_TRANSLATED +HP:0000526 Absent iris NOT_TRANSLATED +HP:0000527 Ciliary trichomegaly NOT_TRANSLATED +HP:0000527 Eyelash trichomegaly NOT_TRANSLATED +HP:0000527 Increased length of eyelashes NOT_TRANSLATED +HP:0000527 Unusually long eyelashes NOT_TRANSLATED +HP:0000528 Absence of eyeballs NOT_TRANSLATED +HP:0000528 Absence of globes of eyes NOT_TRANSLATED +HP:0000528 Anophthalmia, clinical NOT_TRANSLATED +HP:0000528 Clinical anophthalmia, unilateral/bilateral NOT_TRANSLATED +HP:0000528 Failure of development of eyeball NOT_TRANSLATED +HP:0000528 Missing eyeball NOT_TRANSLATED +HP:0000528 Missing globe of eye NOT_TRANSLATED +HP:0000528 No eyeball NOT_TRANSLATED +HP:0000528 No globe of eye NOT_TRANSLATED +HP:0000528 Ocular absence NOT_TRANSLATED +HP:0000529 Decreased visual acuity, progressive NOT_TRANSLATED +HP:0000529 Loss of visual acuity NOT_TRANSLATED +HP:0000529 Progressive loss of vision NOT_TRANSLATED +HP:0000529 Progressive vision loss NOT_TRANSLATED +HP:0000529 Progressive visual acuity loss NOT_TRANSLATED +HP:0000529 Progressive visual impairment NOT_TRANSLATED +HP:0000529 Slowly progressive visual loss NOT_TRANSLATED +HP:0000529 Vision loss, progressive NOT_TRANSLATED +HP:0000529 Visual loss, progressive NOT_TRANSLATED +HP:0000531 Corneal deposits NOT_TRANSLATED +HP:0000532 Chorioretinal abnormality NOT_TRANSLATED +HP:0000533 Chorioretinal thinning NOT_TRANSLATED +HP:0000534 Abnormality of the eyebrow NOT_TRANSLATED +HP:0000540 Farsightedness NOT_TRANSLATED +HP:0000540 Hyperopia NOT_TRANSLATED +HP:0000540 Long-sightedness NOT_TRANSLATED +HP:0000541 Detached retina NOT_TRANSLATED +HP:0000543 Disc pallor NOT_TRANSLATED +HP:0000543 Pale optic disc NOT_TRANSLATED +HP:0000543 Pale optic discs NOT_TRANSLATED +HP:0000543 Pale optic disk NOT_TRANSLATED +HP:0000544 CPEO NOT_TRANSLATED +HP:0000544 Chronic progressive external ophthalmoplegia NOT_TRANSLATED +HP:0000544 Ophthalmoplegia externa NOT_TRANSLATED +HP:0000544 Paralysis or weakness of muscles within or surrounding outer part of eye NOT_TRANSLATED +HP:0000544 Progressive paralysis or weakness of muscles of eye motility NOT_TRANSLATED +HP:0000544 Progressive paralysis or weakness of muscles of eye movement NOT_TRANSLATED +HP:0000545 Close sighted NOT_TRANSLATED +HP:0000545 Near sighted NOT_TRANSLATED +HP:0000545 Near sightedness NOT_TRANSLATED +HP:0000545 Nearsightedness NOT_TRANSLATED +HP:0000546 Retina degeneration NOT_TRANSLATED +HP:0000548 Cone rod dystrophy NOT_TRANSLATED +HP:0000548 Cone-rod retinal dystrophy NOT_TRANSLATED +HP:0000549 Disconjugate eye movements NOT_TRANSLATED +HP:0000550 Abolished electroretinogram NOT_TRANSLATED +HP:0000550 Absent electroretinogram NOT_TRANSLATED +HP:0000550 Extinction of electroretinogram NOT_TRANSLATED +HP:0000550 Extinguished electroretinogram NOT_TRANSLATED +HP:0000550 No light-evoked response on electroretinogram NOT_TRANSLATED +HP:0000550 Undetectable ERG NOT_TRANSLATED +HP:0000551 Abnormal color vision NOT_TRANSLATED +HP:0000551 Abnormal colour vision NOT_TRANSLATED +HP:0000551 Abnormality of color vision NOT_TRANSLATED +HP:0000551 Abnormality of colour vision NOT_TRANSLATED +HP:0000551 Color vision defect, severe NOT_TRANSLATED +HP:0000551 Color vision defects NOT_TRANSLATED +HP:0000551 Colour vision defect NOT_TRANSLATED +HP:0000551 Colour vision defect, severe NOT_TRANSLATED +HP:0000551 Colour vision defects NOT_TRANSLATED +HP:0000551 Disturbed color vision NOT_TRANSLATED +HP:0000551 Loss in color vision NOT_TRANSLATED +HP:0000551 Loss in colour vision NOT_TRANSLATED +HP:0000552 Blue yellow color blindness NOT_TRANSLATED +HP:0000552 Blue yellow colour blindness NOT_TRANSLATED +HP:0000552 Blue-yellow dyschromatopsia NOT_TRANSLATED +HP:0000552 Blue/yellow color vision defect NOT_TRANSLATED +HP:0000552 Blue/yellow colour vision defect NOT_TRANSLATED +HP:0000552 Dyschromatopsia, blue-yellow NOT_TRANSLATED +HP:0000553 Abnormality of the uvea NOT_TRANSLATED +HP:0000555 Leukokoria NOT_TRANSLATED +HP:0000555 White pupillary reflex NOT_TRANSLATED +HP:0000556 Breakdown of light-sensitive cells in back of eye NOT_TRANSLATED +HP:0000557 Enlarged eyeball NOT_TRANSLATED +HP:0000561 Agenesis of eyelashes NOT_TRANSLATED +HP:0000561 Aplasia of eyelashes NOT_TRANSLATED +HP:0000561 Atrichia of eyelashes NOT_TRANSLATED +HP:0000561 Failure of development of eyelashes NOT_TRANSLATED +HP:0000563 Bulging cornea NOT_TRANSLATED +HP:0000563 Conical cornea NOT_TRANSLATED +HP:0000564 Imperforate nasolacrimal ducts NOT_TRANSLATED +HP:0000564 Nasolacrimal duct atresia NOT_TRANSLATED +HP:0000564 Unopened tear duct NOT_TRANSLATED +HP:0000565 Inward turning cross eyed NOT_TRANSLATED +HP:0000567 Birth defect that causes a hole in the innermost layer at the back of the eye NOT_TRANSLATED +HP:0000567 Choroid coloboma NOT_TRANSLATED +HP:0000567 Choroidal coloboma NOT_TRANSLATED +HP:0000567 Choroidoretinal coloboma NOT_TRANSLATED +HP:0000567 Coloboma of choroid NOT_TRANSLATED +HP:0000568 Abnormally small eyeball NOT_TRANSLATED +HP:0000568 Abnormally small globe of eye NOT_TRANSLATED +HP:0000568 Decreased size of eyeball NOT_TRANSLATED +HP:0000568 Decreased size of globe of eye NOT_TRANSLATED +HP:0000568 Microphthalmos NOT_TRANSLATED +HP:0000568 Nanophthalmos NOT_TRANSLATED +HP:0000570 Abnormality of saccadic eye movements NOT_TRANSLATED +HP:0000570 Impaired saccades NOT_TRANSLATED +HP:0000572 Loss of vision NOT_TRANSLATED +HP:0000572 Vision loss NOT_TRANSLATED +HP:0000573 Retinal bleeding NOT_TRANSLATED +HP:0000573 Retinal haemorrhage NOT_TRANSLATED +HP:0000573 Retinal haemorrhages NOT_TRANSLATED +HP:0000573 Retinal hemorrhages NOT_TRANSLATED +HP:0000574 Bushy eyebrows NOT_TRANSLATED +HP:0000574 Dense eyebrow NOT_TRANSLATED +HP:0000574 Heavy eyebrows NOT_TRANSLATED +HP:0000574 Hypertrichosis of the eyebrow NOT_TRANSLATED +HP:0000574 Hypertrichosis of the eyebrows NOT_TRANSLATED +HP:0000574 Prominent eyebrows NOT_TRANSLATED +HP:0000574 Thick eyebrows NOT_TRANSLATED +HP:0000575 Blind spot NOT_TRANSLATED +HP:0000577 Outward facing eye ball NOT_TRANSLATED +HP:0000579 Blocked tear duct NOT_TRANSLATED +HP:0000579 Lacrimal duct obstruction NOT_TRANSLATED +HP:0000580 Pigmentary retinal deposits NOT_TRANSLATED +HP:0000580 Retinal pigment clumping NOT_TRANSLATED +HP:0000580 Retinal pigmentary clumping NOT_TRANSLATED +HP:0000580 Retinal pigmentary degeneration NOT_TRANSLATED +HP:0000581 Decreased width of palpebral fissure NOT_TRANSLATED +HP:0000581 Narrow opening between the eyelids NOT_TRANSLATED +HP:0000582 Mongoloid slant NOT_TRANSLATED +HP:0000582 Upslanted palpebral fissures NOT_TRANSLATED +HP:0000582 Upslanting palpebral fissures NOT_TRANSLATED +HP:0000582 Upward slanted palpebral fissures NOT_TRANSLATED +HP:0000582 Upward slanting of palpebral fissures NOT_TRANSLATED +HP:0000582 Upward slanting of the opening between the eyelids NOT_TRANSLATED +HP:0000582 Upward slanting palpebral fissures NOT_TRANSLATED +HP:0000585 Calcific band keratopathy NOT_TRANSLATED +HP:0000586 Decreased depth of eye sockets NOT_TRANSLATED +HP:0000586 Decreased depth of orbits NOT_TRANSLATED +HP:0000586 Shallow eye sockets NOT_TRANSLATED +HP:0000586 Small shallow orbits NOT_TRANSLATED +HP:0000587 Optic nerve issue NOT_TRANSLATED +HP:0000587 optic nerve abnormalities NOT_TRANSLATED +HP:0000588 Coloboma of optic nerve NOT_TRANSLATED +HP:0000588 Optic disk coloboma NOT_TRANSLATED +HP:0000588 Optic nerve coloboma NOT_TRANSLATED +HP:0000589 Notched pupil NOT_TRANSLATED +HP:0000589 Ocular coloboma NOT_TRANSLATED +HP:0000589 Ocular colobomas NOT_TRANSLATED +HP:0000590 External ophthalmoplegia, progressive NOT_TRANSLATED +HP:0000591 Abnormality of the outer white part of eyeball NOT_TRANSLATED +HP:0000591 Abnormality of the sclera NOT_TRANSLATED +HP:0000592 Blue outer white part of eyeball NOT_TRANSLATED +HP:0000592 Blue sclera NOT_TRANSLATED +HP:0000592 Bluish sclerae NOT_TRANSLATED +HP:0000592 Gray sclerae NOT_TRANSLATED +HP:0000592 Grey sclerae NOT_TRANSLATED +HP:0000592 Whites of eyes are a bluish-gray color NOT_TRANSLATED +HP:0000592 Whites of eyes are a bluish-gray colour NOT_TRANSLATED +HP:0000593 Abnormality of the anterior chamber NOT_TRANSLATED +HP:0000593 Anterior chamber anomalies NOT_TRANSLATED +HP:0000593 Ocular anterior chamber abnormality NOT_TRANSLATED +HP:0000597 Extraocular muscle palsy NOT_TRANSLATED +HP:0000597 Extraocular muscle paralysis NOT_TRANSLATED +HP:0000597 Weakness of extraocular eye movement NOT_TRANSLATED +HP:0000597 Weakness of muscles controlling eye movement NOT_TRANSLATED +HP:0000598 Ear anomaly NOT_TRANSLATED +HP:0000599 Abnormality of hairline at front of head NOT_TRANSLATED +HP:0000601 Abnormally close eyes NOT_TRANSLATED +HP:0000601 Closely spaced eyes NOT_TRANSLATED +HP:0000601 Decreased distance between eye sockets NOT_TRANSLATED +HP:0000601 Decreased distance between eyes NOT_TRANSLATED +HP:0000601 Decreased interpupillary distance NOT_TRANSLATED +HP:0000601 Decreased orbital separation NOT_TRANSLATED +HP:0000601 Ocular hypotelorism NOT_TRANSLATED +HP:0000602 Eye muscle paralysis NOT_TRANSLATED +HP:0000602 Paralysis of extraocular eye movement NOT_TRANSLATED +HP:0000603 Blind spot located at fixation point NOT_TRANSLATED +HP:0000603 Central blind spot NOT_TRANSLATED +HP:0000603 Central scotomata NOT_TRANSLATED +HP:0000605 Supranuclear gaze paralysis NOT_TRANSLATED +HP:0000606 Abnormality of the region around the eye NOT_TRANSLATED +HP:0000606 Abnormality of the region around the eye socket NOT_TRANSLATED +HP:0000606 Anomaly of the periorbital region NOT_TRANSLATED +HP:0000606 Deformity of the periorbital region NOT_TRANSLATED +HP:0000606 Malformation of the periorbital region NOT_TRANSLATED +HP:0000607 Excess periorbital skin wrinkling NOT_TRANSLATED +HP:0000607 Periorbital rhytids NOT_TRANSLATED +HP:0000607 Periorbital wrinkling NOT_TRANSLATED +HP:0000607 Wrinkles around the eyes NOT_TRANSLATED +HP:0000608 Pigmented macular degeneration NOT_TRANSLATED +HP:0000609 Hypoplastic optic nerves NOT_TRANSLATED +HP:0000609 Underdeveloped optic nerves NOT_TRANSLATED +HP:0000610 Abnormality of the choroid NOT_TRANSLATED +HP:0000610 Choroid disease NOT_TRANSLATED +HP:0000612 Cat eye NOT_TRANSLATED +HP:0000612 Coloboma of iris NOT_TRANSLATED +HP:0000612 Coloboma of the iris NOT_TRANSLATED +HP:0000612 Keyhole iris NOT_TRANSLATED +HP:0000613 Extreme sensitivity of the eyes to light NOT_TRANSLATED +HP:0000613 Light hypersensitivity NOT_TRANSLATED +HP:0000613 Photodysphoria NOT_TRANSLATED +HP:0000614 Abnormality of the nasolacrimal system NOT_TRANSLATED +HP:0000615 Abnormal pupillary morphology NOT_TRANSLATED +HP:0000615 Abnormality of the pupil NOT_TRANSLATED +HP:0000615 Pupillary abnormalities NOT_TRANSLATED +HP:0000615 Pupillary abnormality NOT_TRANSLATED +HP:0000616 Constricted pupils NOT_TRANSLATED +HP:0000616 Pupillary constriction NOT_TRANSLATED +HP:0000617 Abnormal smooth pursuits NOT_TRANSLATED +HP:0000617 Disrupted ocular pursuit movements NOT_TRANSLATED +HP:0000617 Impaired smooth pursuit ocular movements NOT_TRANSLATED +HP:0000617 Irregular visual pursuit movements NOT_TRANSLATED +HP:0000618 Legal blindness NOT_TRANSLATED +HP:0000618 Total vision loss NOT_TRANSLATED +HP:0000619 Convergence insufficiency NOT_TRANSLATED +HP:0000620 Dacrocystitis NOT_TRANSLATED +HP:0000620 Infection of the lacrimal sac NOT_TRANSLATED +HP:0000621 Eyelid folded in NOT_TRANSLATED +HP:0000621 Eyelid turned in NOT_TRANSLATED +HP:0000621 Inverted eyelid NOT_TRANSLATED +HP:0000625 Cleft eyelid NOT_TRANSLATED +HP:0000625 Full thickness defect of the eyelid NOT_TRANSLATED +HP:0000625 Notched eyelid NOT_TRANSLATED +HP:0000627 Embryotoxon NOT_TRANSLATED +HP:0000629 Fullness around the eyes NOT_TRANSLATED +HP:0000629 Periorbital puffiness NOT_TRANSLATED +HP:0000629 Periorbital swelling NOT_TRANSLATED +HP:0000629 Puffiness around eye NOT_TRANSLATED +HP:0000629 Puffy eyes NOT_TRANSLATED +HP:0000629 Swelling around the eyes NOT_TRANSLATED +HP:0000630 Abnormality of retinal arteries NOT_TRANSLATED +HP:0000630 Retinal arterial abnormality NOT_TRANSLATED +HP:0000631 Retinal artery tortuousity NOT_TRANSLATED +HP:0000632 Abnormality of tear production NOT_TRANSLATED +HP:0000633 Decreased tear secretion NOT_TRANSLATED +HP:0000635 Blue eyes NOT_TRANSLATED +HP:0000636 Cleft upper eyelid NOT_TRANSLATED +HP:0000636 Coloboma of the upper eyelid NOT_TRANSLATED +HP:0000636 Full thickness defect of the upper eyelid NOT_TRANSLATED +HP:0000636 Notched upper eyelid NOT_TRANSLATED +HP:0000636 Upper eyelid colobomas NOT_TRANSLATED +HP:0000637 Broad opening between the eyelids NOT_TRANSLATED +HP:0000637 Broad palpebral fissure NOT_TRANSLATED +HP:0000637 Long opening between the eyelids NOT_TRANSLATED +HP:0000637 Long palpebral fissures NOT_TRANSLATED +HP:0000637 Wide opening between the eyelids NOT_TRANSLATED +HP:0000637 Wide palpebral fissure NOT_TRANSLATED +HP:0000637 Wide palpebral fissures NOT_TRANSLATED +HP:0000639 Involuntary, rapid, rhythmic eye movements NOT_TRANSLATED +HP:0000641 Dysmetric eye movements NOT_TRANSLATED +HP:0000641 Dysmetric eye saccades NOT_TRANSLATED +HP:0000641 Uncoordinated eye movement NOT_TRANSLATED +HP:0000642 Dyschromatopsia with red-green confusion NOT_TRANSLATED +HP:0000642 Red green color blindness NOT_TRANSLATED +HP:0000642 Red green colour blindness NOT_TRANSLATED +HP:0000642 Red/green color vision defect NOT_TRANSLATED +HP:0000642 Red/green colour vision defect NOT_TRANSLATED +HP:0000643 Eyelid spasm NOT_TRANSLATED +HP:0000643 Eyelid twitching NOT_TRANSLATED +HP:0000643 Involuntary closure of eyelid NOT_TRANSLATED +HP:0000643 Spontaneous closure of eyelid NOT_TRANSLATED +HP:0000646 Lazy eye NOT_TRANSLATED +HP:0000646 Wandering eye NOT_TRANSLATED +HP:0000646 Wandering eyes NOT_TRANSLATED +HP:0000647 Hardening of skin and connective tissue NOT_TRANSLATED +HP:0000648 Optic nerve atrophy NOT_TRANSLATED +HP:0000648 Optic-nerve degeneration NOT_TRANSLATED +HP:0000649 Abnormal vision evoked potentials NOT_TRANSLATED +HP:0000649 Abnormal visual evoked potential NOT_TRANSLATED +HP:0000649 Abnormal visual evoked responses NOT_TRANSLATED +HP:0000649 Abnormal visual-evoked potentials NOT_TRANSLATED +HP:0000649 VEP abnormalities NOT_TRANSLATED +HP:0000651 Double vision NOT_TRANSLATED +HP:0000652 Cleft lower eyelid NOT_TRANSLATED +HP:0000652 Coloboma of lower eyelid NOT_TRANSLATED +HP:0000652 Full thickness defect of the lower eyelid NOT_TRANSLATED +HP:0000652 Lower lid coloboma NOT_TRANSLATED +HP:0000652 Notched lower eyelid NOT_TRANSLATED +HP:0000653 Hypotrichosis of eyelashes NOT_TRANSLATED +HP:0000653 Partial absence of eyelashes NOT_TRANSLATED +HP:0000653 Scant eyelashes NOT_TRANSLATED +HP:0000653 Scanty eyelashes NOT_TRANSLATED +HP:0000653 Thin eyelashes NOT_TRANSLATED +HP:0000654 Decreased ERG amplitude NOT_TRANSLATED +HP:0000654 Decreased amplitudes on flash visual electroretinogram NOT_TRANSLATED +HP:0000654 Decreased electroretinogram NOT_TRANSLATED +HP:0000654 Decreased electroretinogram amplitude NOT_TRANSLATED +HP:0000654 Decreased electroretinogram response NOT_TRANSLATED +HP:0000654 Flattened or absent electroretinogram NOT_TRANSLATED +HP:0000654 Reduced ERG NOT_TRANSLATED +HP:0000654 Reduced electroretinogram NOT_TRANSLATED +HP:0000654 Reduced or abolished electroretinogram NOT_TRANSLATED +HP:0000656 Everted eyelid NOT_TRANSLATED +HP:0000656 Eyelid folded out NOT_TRANSLATED +HP:0000656 Eyelid turned out NOT_TRANSLATED +HP:0000657 Defective or absent horizontal voluntary eye movements NOT_TRANSLATED +HP:0000657 Ocular motor apraxia NOT_TRANSLATED +HP:0000658 Difficulty opening the eyelids NOT_TRANSLATED +HP:0000662 Difficulties with night vision NOT_TRANSLATED +HP:0000662 Night blindness NOT_TRANSLATED +HP:0000662 Night-blindness NOT_TRANSLATED +HP:0000662 Poor night vision NOT_TRANSLATED +HP:0000664 Monobrow NOT_TRANSLATED +HP:0000664 Synophris NOT_TRANSLATED +HP:0000664 Unibrow NOT_TRANSLATED +HP:0000666 Nystagmus, horizontal NOT_TRANSLATED +HP:0000668 Failure of development of between one and six teeth NOT_TRANSLATED +HP:0000668 Missing between one and six teeth NOT_TRANSLATED +HP:0000670 Caries NOT_TRANSLATED +HP:0000670 Cariosity of teeth NOT_TRANSLATED +HP:0000670 Dental caries NOT_TRANSLATED +HP:0000670 Dental cavities NOT_TRANSLATED +HP:0000670 Dental decay NOT_TRANSLATED +HP:0000670 Early dental caries NOT_TRANSLATED +HP:0000670 Frequent caries NOT_TRANSLATED +HP:0000670 Rotting teeth NOT_TRANSLATED +HP:0000670 Tooth cavities NOT_TRANSLATED +HP:0000670 Tooth decay NOT_TRANSLATED +HP:0000674 Anodontia vera NOT_TRANSLATED +HP:0000674 Complete agenesis of all teeth NOT_TRANSLATED +HP:0000674 Complete anodontia NOT_TRANSLATED +HP:0000674 Complete dental agenesis NOT_TRANSLATED +HP:0000674 Failure of development of all teeth NOT_TRANSLATED +HP:0000674 Missing all teeth NOT_TRANSLATED +HP:0000674 Total absence of all teeth NOT_TRANSLATED +HP:0000674 Total anodontia NOT_TRANSLATED +HP:0000675 Hyperplasia of permanent maxillary central incisor NOT_TRANSLATED +HP:0000675 Hypertrophy of permanent maxillary central incisor NOT_TRANSLATED +HP:0000675 Increased size of permanent maxillary central incisor NOT_TRANSLATED +HP:0000675 Increased size of permanent upper central incisor NOT_TRANSLATED +HP:0000675 Increased width of permanent maxillary central incisor NOT_TRANSLATED +HP:0000675 Increased width of permanent upper central incisor NOT_TRANSLATED +HP:0000675 Large permanent maxillary central incisor NOT_TRANSLATED +HP:0000675 Large permanent upper central incisor NOT_TRANSLATED +HP:0000675 Long maxillary central incisors NOT_TRANSLATED +HP:0000675 Prominent upper incisors NOT_TRANSLATED +HP:0000675 Prominent, protruding upper incisors NOT_TRANSLATED +HP:0000677 Failure of development of more than six teeth NOT_TRANSLATED +HP:0000677 Missing more than six teeth NOT_TRANSLATED +HP:0000677 Number of teeth decreased by more than six NOT_TRANSLATED +HP:0000677 Partial anodontia NOT_TRANSLATED +HP:0000678 Crowded teeth NOT_TRANSLATED +HP:0000678 Dental overcrowding NOT_TRANSLATED +HP:0000678 Inadequate arch length for tooth size NOT_TRANSLATED +HP:0000678 Overcrowding of teeth NOT_TRANSLATED +HP:0000678 Tooth mass arch size discrepancy NOT_TRANSLATED +HP:0000678 Tooth size discrepancy NOT_TRANSLATED +HP:0000679 Large elongated pulp chamber NOT_TRANSLATED +HP:0000679 Taurodont NOT_TRANSLATED +HP:0000679 Taurodontism NOT_TRANSLATED +HP:0000680 Delayed eruption of baby teeth NOT_TRANSLATED +HP:0000680 Delayed eruption of deciduous teeth NOT_TRANSLATED +HP:0000680 Delayed eruption of milk teeth NOT_TRANSLATED +HP:0000680 Delayed primary teeth eruption NOT_TRANSLATED +HP:0000680 Late eruption of baby teeth NOT_TRANSLATED +HP:0000680 Late eruption of milk teeth NOT_TRANSLATED +HP:0000680 Late eruption of primary teeth NOT_TRANSLATED +HP:0000682 Abnormal tooth enamel NOT_TRANSLATED +HP:0000682 Abnormality of dental enamel NOT_TRANSLATED +HP:0000682 Defective tooth enamel NOT_TRANSLATED +HP:0000682 Dystrophic tooth enamel NOT_TRANSLATED +HP:0000682 Enamel abnormalities NOT_TRANSLATED +HP:0000682 Enamel abnormality NOT_TRANSLATED +HP:0000682 Malformation of dental enamel NOT_TRANSLATED +HP:0000682 Malformation of tooth enamel NOT_TRANSLATED +HP:0000683 Gray colored tooth enamel NOT_TRANSLATED +HP:0000683 Gray tooth shade NOT_TRANSLATED +HP:0000683 Grey coloured tooth enamel NOT_TRANSLATED +HP:0000683 Grey tooth shade NOT_TRANSLATED +HP:0000683 Greyish enamel NOT_TRANSLATED +HP:0000684 Delayed dental development NOT_TRANSLATED +HP:0000684 Delayed dental eruption NOT_TRANSLATED +HP:0000684 Delayed eruption NOT_TRANSLATED +HP:0000684 Delayed teeth eruption NOT_TRANSLATED +HP:0000684 Delayed tooth eruption NOT_TRANSLATED +HP:0000684 Eruption, delayed NOT_TRANSLATED +HP:0000684 Late eruption of teeth NOT_TRANSLATED +HP:0000684 Late tooth eruption NOT_TRANSLATED +HP:0000685 Decreased size of teeth NOT_TRANSLATED +HP:0000685 Hypoplastic teeth NOT_TRANSLATED +HP:0000685 Underdevelopment of teeth NOT_TRANSLATED +HP:0000687 Generalised dental spacing NOT_TRANSLATED +HP:0000687 Generalised spacing of teeth NOT_TRANSLATED +HP:0000687 Generalized dental spacing NOT_TRANSLATED +HP:0000687 Generalized spacing of teeth NOT_TRANSLATED +HP:0000687 Multiple diastemata NOT_TRANSLATED +HP:0000687 Wide-spaced teeth NOT_TRANSLATED +HP:0000687 Widely-spaced teeth NOT_TRANSLATED +HP:0000689 Angle class 2 malocclusion NOT_TRANSLATED +HP:0000689 Angle class 3 malocclusion NOT_TRANSLATED +HP:0000689 Bad bite NOT_TRANSLATED +HP:0000689 Bilateral crossbite NOT_TRANSLATED +HP:0000689 Bilateral crossbite malocclusion NOT_TRANSLATED +HP:0000689 Incorrect relation between upper and lower dental arches NOT_TRANSLATED +HP:0000689 Malalignment of upper and lower dental arches NOT_TRANSLATED +HP:0000689 Malocclusion NOT_TRANSLATED +HP:0000689 Malocclusion of teeth NOT_TRANSLATED +HP:0000689 Misalignment of upper and lower dental arches NOT_TRANSLATED +HP:0000689 Occlusion anomaly NOT_TRANSLATED +HP:0000690 Absence of maxillary lateral incisor NOT_TRANSLATED +HP:0000690 Absence of upper lateral incisor NOT_TRANSLATED +HP:0000690 Absent upper lateral incisors NOT_TRANSLATED +HP:0000690 Failure of development of maxillary lateral incisor NOT_TRANSLATED +HP:0000690 Missing maxillary lateral incisor NOT_TRANSLATED +HP:0000690 Missing upper lateral incisor NOT_TRANSLATED +HP:0000691 Decreased size of tooth NOT_TRANSLATED +HP:0000691 Decreased width of tooth NOT_TRANSLATED +HP:0000691 Hypotrophic tooth NOT_TRANSLATED +HP:0000691 Small teeth NOT_TRANSLATED +HP:0000691 Small tooth NOT_TRANSLATED +HP:0000691 Tooth hypoplasia NOT_TRANSLATED +HP:0000691 Tooth hypotrophy NOT_TRANSLATED +HP:0000691 Underdeveloped tooth NOT_TRANSLATED +HP:0000692 Abnormal dental position NOT_TRANSLATED +HP:0000692 Abnormal teeth spacing NOT_TRANSLATED +HP:0000692 Abnormality of alignment of teeth NOT_TRANSLATED +HP:0000692 Abnormality of position of teeth NOT_TRANSLATED +HP:0000692 Abnormality of teeth spacing NOT_TRANSLATED +HP:0000692 Crooked teeth NOT_TRANSLATED +HP:0000692 Malaligned teeth NOT_TRANSLATED +HP:0000692 Malposition of teeth NOT_TRANSLATED +HP:0000692 Malpositioned teeth NOT_TRANSLATED +HP:0000692 Misalignment of teeth NOT_TRANSLATED +HP:0000692 Teeth, malposition NOT_TRANSLATED +HP:0000694 Ghost teeth NOT_TRANSLATED +HP:0000694 Shell teeth NOT_TRANSLATED +HP:0000694 Teeth with dentinal dysplasia NOT_TRANSLATED +HP:0000694 Teeth with thin dentin and large pulp chambers NOT_TRANSLATED +HP:0000694 Teeth with type iii dentinogenesis imperfecta NOT_TRANSLATED +HP:0000695 Born with teeth NOT_TRANSLATED +HP:0000695 Natal teeth NOT_TRANSLATED +HP:0000695 Neonatal teeth NOT_TRANSLATED +HP:0000695 Teeth present at birth NOT_TRANSLATED +HP:0000696 Delayed eruption of adult teeth NOT_TRANSLATED +HP:0000696 Delayed eruption of secondary dentition NOT_TRANSLATED +HP:0000696 Delayed eruption of secondary teeth NOT_TRANSLATED +HP:0000696 Delayed permanent dentition NOT_TRANSLATED +HP:0000698 Cone shaped tooth NOT_TRANSLATED +HP:0000698 Conical teeth NOT_TRANSLATED +HP:0000698 Conoid tooth NOT_TRANSLATED +HP:0000698 Peg shaped teeth NOT_TRANSLATED +HP:0000698 Peg shaped tooth NOT_TRANSLATED +HP:0000698 Peg tooth NOT_TRANSLATED +HP:0000698 Peg-shaped teeth NOT_TRANSLATED +HP:0000698 Pointed tooth NOT_TRANSLATED +HP:0000698 Shark tooth NOT_TRANSLATED +HP:0000699 Dental diastasis NOT_TRANSLATED +HP:0000699 Dental diastema NOT_TRANSLATED +HP:0000699 Diastasis of the teeth NOT_TRANSLATED +HP:0000699 Diastema of the teeth NOT_TRANSLATED +HP:0000699 Gap between teeth NOT_TRANSLATED +HP:0000699 Gaps between teeth NOT_TRANSLATED +HP:0000700 Bone loss around tooth root NOT_TRANSLATED +HP:0000700 Dark spot around tooth root on x-ray NOT_TRANSLATED +HP:0000700 Periapical cyst NOT_TRANSLATED +HP:0000700 Periapical granuloma NOT_TRANSLATED +HP:0000700 Periapical lesion NOT_TRANSLATED +HP:0000700 Periapical radiolucencies NOT_TRANSLATED +HP:0000700 Periapical radiolucency NOT_TRANSLATED +HP:0000704 Gum disease NOT_TRANSLATED +HP:0000704 Periodontal disease NOT_TRANSLATED +HP:0000704 Pyorrhea NOT_TRANSLATED +HP:0000706 Failure of eruption of tooth NOT_TRANSLATED +HP:0000706 Pseudo-anodontia NOT_TRANSLATED +HP:0000706 Pseudoanodontia NOT_TRANSLATED +HP:0000706 Unerupted dentition NOT_TRANSLATED +HP:0000706 Unerupted tooth NOT_TRANSLATED +HP:0000707 Brain and/or spinal cord issue NOT_TRANSLATED +HP:0000707 Neurologic abnormalities NOT_TRANSLATED +HP:0000707 Neurological abnormality NOT_TRANSLATED +HP:0000708 Behavioral changes NOT_TRANSLATED +HP:0000708 Behavioral disorders NOT_TRANSLATED +HP:0000708 Behavioral disturbances NOT_TRANSLATED +HP:0000708 Behavioral problems NOT_TRANSLATED +HP:0000708 Behavioral symptoms NOT_TRANSLATED +HP:0000708 Behavioral/psychiatric abnormalities NOT_TRANSLATED +HP:0000708 Behavioural abnormality NOT_TRANSLATED +HP:0000708 Behavioural changes NOT_TRANSLATED +HP:0000708 Behavioural disorders NOT_TRANSLATED +HP:0000708 Behavioural disturbances NOT_TRANSLATED +HP:0000708 Behavioural problems NOT_TRANSLATED +HP:0000708 Behavioural symptoms NOT_TRANSLATED +HP:0000708 Behavioural/Psychiatric abnormality NOT_TRANSLATED +HP:0000708 Psychiatric disorders NOT_TRANSLATED +HP:0000708 Psychiatric disturbances NOT_TRANSLATED +HP:0000710 Hyperoralia NOT_TRANSLATED +HP:0000712 Emotional instability NOT_TRANSLATED +HP:0000712 Mood alterations NOT_TRANSLATED +HP:0000712 Mood changes NOT_TRANSLATED +HP:0000712 Mood lability NOT_TRANSLATED +HP:0000712 Mood swings NOT_TRANSLATED +HP:0000716 Depressive disorder NOT_TRANSLATED +HP:0000716 Depressivity NOT_TRANSLATED +HP:0000718 Aggression NOT_TRANSLATED +HP:0000718 Aggressive behaviour NOT_TRANSLATED +HP:0000718 Aggressiveness NOT_TRANSLATED +HP:0000718 physical aggression NOT_TRANSLATED +HP:0000719 Inappropriate behaviour NOT_TRANSLATED +HP:0000722 OCD NOT_TRANSLATED +HP:0000722 Obsessive compulsive behavior NOT_TRANSLATED +HP:0000722 Obsessive compulsive behaviour NOT_TRANSLATED +HP:0000722 Obsessive compulsive disorder NOT_TRANSLATED +HP:0000722 Obsessive-compulsive behaviour NOT_TRANSLATED +HP:0000722 Obsessive-compulsive disorder NOT_TRANSLATED +HP:0000723 Restricted behavior NOT_TRANSLATED +HP:0000723 Restricted behaviour NOT_TRANSLATED +HP:0000723 Restrictive behavior, interests, and activities NOT_TRANSLATED +HP:0000723 Restrictive behaviour NOT_TRANSLATED +HP:0000726 Dementia, progressive NOT_TRANSLATED +HP:0000726 Progressive dementia NOT_TRANSLATED +HP:0000729 ASD NOT_TRANSLATED +HP:0000729 Autism spectrum disorder NOT_TRANSLATED +HP:0000729 Autism spectrum disorders NOT_TRANSLATED +HP:0000729 Autistic behaviors NOT_TRANSLATED +HP:0000729 Autistic behaviour NOT_TRANSLATED +HP:0000729 Autistic behaviours NOT_TRANSLATED +HP:0000729 Pervasive developmental disorder NOT_TRANSLATED +HP:0000733 Repetitive movements NOT_TRANSLATED +HP:0000733 Repetitive or self-injurious behavior NOT_TRANSLATED +HP:0000733 Repetitive or self-injurious behaviour NOT_TRANSLATED +HP:0000733 Stereotyped behavior NOT_TRANSLATED +HP:0000733 Stereotyped behaviors NOT_TRANSLATED +HP:0000733 Stereotyped behaviour NOT_TRANSLATED +HP:0000733 Stereotyped behaviours NOT_TRANSLATED +HP:0000733 Stereotyped, repetitive behavior NOT_TRANSLATED +HP:0000733 Stereotyped, repetitive behaviour NOT_TRANSLATED +HP:0000733 Stereotypic behavior NOT_TRANSLATED +HP:0000733 Stereotypic behaviors NOT_TRANSLATED +HP:0000733 Stereotypic behaviour NOT_TRANSLATED +HP:0000733 Stereotypic behaviours NOT_TRANSLATED +HP:0000733 Stereotypical motor behavior NOT_TRANSLATED +HP:0000733 Stereotypical motor behaviors NOT_TRANSLATED +HP:0000733 Stereotypical motor behaviours NOT_TRANSLATED +HP:0000735 Impaired social interaction NOT_TRANSLATED +HP:0000735 Poor social interactions NOT_TRANSLATED +HP:0000736 Easily distracted NOT_TRANSLATED +HP:0000736 Poor attention span NOT_TRANSLATED +HP:0000736 Problem paying attention NOT_TRANSLATED +HP:0000737 Irritable NOT_TRANSLATED +HP:0000738 Hallucination NOT_TRANSLATED +HP:0000738 Sensory hallucination NOT_TRANSLATED +HP:0000739 Anxiety disease NOT_TRANSLATED +HP:0000739 Anxiousness NOT_TRANSLATED +HP:0000739 Excessive, persistent worry and fear NOT_TRANSLATED +HP:0000741 Lack of feeling, emotion, interest NOT_TRANSLATED +HP:0000742 Deliberate self-harm NOT_TRANSLATED +HP:0000742 Self mutilation NOT_TRANSLATED +HP:0000743 Frontal release reflexes NOT_TRANSLATED +HP:0000744 Intolerance to frustration NOT_TRANSLATED +HP:0000745 Lack of initiative NOT_TRANSLATED +HP:0000745 Lack of motivation NOT_TRANSLATED +HP:0000745 Lacking in initiative NOT_TRANSLATED +HP:0000745 Lacks initiative NOT_TRANSLATED +HP:0000749 Paroxysmal laughter NOT_TRANSLATED +HP:0000750 Deficiency of speech development NOT_TRANSLATED +HP:0000750 Delayed language development NOT_TRANSLATED +HP:0000750 Delayed speech NOT_TRANSLATED +HP:0000750 Delayed speech acquisition NOT_TRANSLATED +HP:0000750 Delayed speech development NOT_TRANSLATED +HP:0000750 Impaired speech and language development NOT_TRANSLATED +HP:0000750 Impaired speech development NOT_TRANSLATED +HP:0000750 Language delay NOT_TRANSLATED +HP:0000750 Language delayed NOT_TRANSLATED +HP:0000750 Language development deficit NOT_TRANSLATED +HP:0000750 Late-onset speech development NOT_TRANSLATED +HP:0000750 Poor language development NOT_TRANSLATED +HP:0000750 Poor speech acquisition NOT_TRANSLATED +HP:0000750 Poor speech development NOT_TRANSLATED +HP:0000750 Speech and language delay NOT_TRANSLATED +HP:0000750 Speech and language difficulties NOT_TRANSLATED +HP:0000750 Speech delay NOT_TRANSLATED +HP:0000750 Speech difficulties NOT_TRANSLATED +HP:0000751 Personality change NOT_TRANSLATED +HP:0000752 Hyperactive behavior NOT_TRANSLATED +HP:0000752 Hyperactive behaviour NOT_TRANSLATED +HP:0000752 More active than typical NOT_TRANSLATED +HP:0000756 Fear of open spaces NOT_TRANSLATED +HP:0000758 Impaired use of nonverbal behaviors NOT_TRANSLATED +HP:0000758 Impaired use of nonverbal behaviours NOT_TRANSLATED +HP:0000759 Abnormal peripheral nervous system structure NOT_TRANSLATED +HP:0000759 Peripheral nervous system disease NOT_TRANSLATED +HP:0000762 Decreased NCV NOT_TRANSLATED +HP:0000762 Decreased nerve conduction velocities NOT_TRANSLATED +HP:0000762 Delayed nerve conduction velocity NOT_TRANSLATED +HP:0000762 Reduced nerve conduction velocities NOT_TRANSLATED +HP:0000762 Slow nerve conduction velocity NOT_TRANSLATED +HP:0000762 Slowed nerve conduction velocities NOT_TRANSLATED +HP:0000763 Damage to nerves that sense feeling NOT_TRANSLATED +HP:0000763 Peripheral sensory neuropathy NOT_TRANSLATED +HP:0000765 Abnormality of the chest NOT_TRANSLATED +HP:0000765 Abnormality of the thorax NOT_TRANSLATED +HP:0000765 Structural abnormality of the chest wall NOT_TRANSLATED +HP:0000766 Abnormality of the sternum NOT_TRANSLATED +HP:0000766 Pectus carinatum or pectus excavatum NOT_TRANSLATED +HP:0000766 Pectus deformities NOT_TRANSLATED +HP:0000766 Pectus deformity NOT_TRANSLATED +HP:0000766 Pectus excavatum or carinatum NOT_TRANSLATED +HP:0000766 Pectus excavatum or pectus carinatum NOT_TRANSLATED +HP:0000766 Pectus excavatum/carinatum NOT_TRANSLATED +HP:0000766 Sternal anomalies NOT_TRANSLATED +HP:0000767 Funnel chest NOT_TRANSLATED +HP:0000768 Pigeon chest NOT_TRANSLATED +HP:0000771 Enlarged male breast NOT_TRANSLATED +HP:0000771 Gynaecomastia NOT_TRANSLATED +HP:0000772 Abnormality of the ribs NOT_TRANSLATED +HP:0000772 Rib abnormalities NOT_TRANSLATED +HP:0000772 Rib anomalies NOT_TRANSLATED +HP:0000773 Hypoplastic ribs NOT_TRANSLATED +HP:0000773 Rib hypoplasia NOT_TRANSLATED +HP:0000774 Low chest circumference NOT_TRANSLATED +HP:0000774 Narrow shoulders NOT_TRANSLATED +HP:0000774 Narrow thorax NOT_TRANSLATED +HP:0000774 Reduced anterior-posterior chest diameter NOT_TRANSLATED +HP:0000775 Diaphragm issues NOT_TRANSLATED +HP:0000775 Diaphragmatic defect NOT_TRANSLATED +HP:0000776 Diaphragmatic hernia NOT_TRANSLATED +HP:0000778 Small thymus NOT_TRANSLATED +HP:0000778 Thymic hypoplasia NOT_TRANSLATED +HP:0000778 Thymus hypoplasia NOT_TRANSLATED +HP:0000782 Abnormality of the shoulder blade NOT_TRANSLATED +HP:0000787 Kidney stones NOT_TRANSLATED +HP:0000787 Renal calculi NOT_TRANSLATED +HP:0000787 Renal stones NOT_TRANSLATED +HP:0000790 Blood in urine NOT_TRANSLATED +HP:0000790 High urine occult blood NOT_TRANSLATED +HP:0000791 Uric acid stones NOT_TRANSLATED +HP:0000791 Uric acid urolithiasis NOT_TRANSLATED +HP:0000793 MPGN NOT_TRANSLATED +HP:0000793 Mesangiocapillary glomerulonephritis NOT_TRANSLATED +HP:0000794 IgA nephropathy NOT_TRANSLATED +HP:0000795 Urethra issue NOT_TRANSLATED +HP:0000798 Low sperm count NOT_TRANSLATED +HP:0000799 Fatty kidney NOT_TRANSLATED +HP:0000800 Bilateral cystic dysplasia NOT_TRANSLATED +HP:0000800 Renal cystic dysplasia NOT_TRANSLATED +HP:0000800 Renal dysplasia, cystic NOT_TRANSLATED +HP:0000802 Difficulty getting a full erection NOT_TRANSLATED +HP:0000802 Difficulty getting an erection NOT_TRANSLATED +HP:0000803 Cortical cysts NOT_TRANSLATED +HP:0000804 Urinary xanthine stones NOT_TRANSLATED +HP:0000804 Xanthine stones NOT_TRANSLATED +HP:0000813 Heart shaped uterus NOT_TRANSLATED +HP:0000813 Heart-shaped uterus NOT_TRANSLATED +HP:0000813 Uterus bicornis NOT_TRANSLATED +HP:0000815 Hypergonadotrophic hypogonadism NOT_TRANSLATED +HP:0000815 Primary hypogonadism NOT_TRANSLATED +HP:0000816 Abnormality of citric acid cycle NOT_TRANSLATED +HP:0000816 Abnormality of the tricarboxylic cycle NOT_TRANSLATED +HP:0000818 Endocrine system disease NOT_TRANSLATED +HP:0000820 Thyroid abnormality NOT_TRANSLATED +HP:0000820 Thyroid disease NOT_TRANSLATED +HP:0000821 Low T4 NOT_TRANSLATED +HP:0000821 Underactive thyroid NOT_TRANSLATED +HP:0000822 Arterial hypertension NOT_TRANSLATED +HP:0000822 High blood pressure NOT_TRANSLATED +HP:0000822 Systemic hypertension NOT_TRANSLATED +HP:0000823 Delayed pubertal development NOT_TRANSLATED +HP:0000823 Delayed pubertal growth NOT_TRANSLATED +HP:0000823 Pubertal delay NOT_TRANSLATED +HP:0000824 Growth hormone deficiency NOT_TRANSLATED +HP:0000824 Somatotropin deficiency NOT_TRANSLATED +HP:0000825 Hyperinsulinaemic hypoglycaemia NOT_TRANSLATED +HP:0000825 Hyperinsulinemia hypoglycemia NOT_TRANSLATED +HP:0000826 Early onset of puberty NOT_TRANSLATED +HP:0000826 Early puberty NOT_TRANSLATED +HP:0000828 Parathyroid disease NOT_TRANSLATED +HP:0000829 Decreased parathyroid hormone secretion NOT_TRANSLATED +HP:0000829 Low parathyroid hormone NOT_TRANSLATED +HP:0000831 Insulin resistant diabetes NOT_TRANSLATED +HP:0000831 Insulin resistant diabetes mellitus NOT_TRANSLATED +HP:0000831 Insulin-resistant diabetes NOT_TRANSLATED +HP:0000834 Adrenal abnormalities NOT_TRANSLATED +HP:0000834 Adrenal gland disease NOT_TRANSLATED +HP:0000835 Adrenal gland hypoplasia NOT_TRANSLATED +HP:0000835 Hypoplastic adrenal glands NOT_TRANSLATED +HP:0000835 Small adrenal glands NOT_TRANSLATED +HP:0000835 Underdeveloped adrenal glands NOT_TRANSLATED +HP:0000836 Overactive thyroid NOT_TRANSLATED +HP:0000837 Elevated gonadotropins NOT_TRANSLATED +HP:0000837 Elevated serum gonadotropins NOT_TRANSLATED +HP:0000837 Gonadotropin excess NOT_TRANSLATED +HP:0000841 Increased plasma renin activity NOT_TRANSLATED +HP:0000842 Elevated insulin level NOT_TRANSLATED +HP:0000843 Elevated blood parathyroid hormone level NOT_TRANSLATED +HP:0000845 Elevated circulating somatotropin concentration NOT_TRANSLATED +HP:0000845 Growth hormone excess NOT_TRANSLATED +HP:0000845 Somatotropin excess NOT_TRANSLATED +HP:0000846 Hypoadrenalism NOT_TRANSLATED +HP:0000847 Abnormality of the renin-aldosterone axis NOT_TRANSLATED +HP:0000848 Elevated blood renin level NOT_TRANSLATED +HP:0000848 Elevated plasma renin NOT_TRANSLATED +HP:0000848 Hyperreninemia NOT_TRANSLATED +HP:0000848 Increased plasma renin NOT_TRANSLATED +HP:0000848 Increased serum renin NOT_TRANSLATED +HP:0000851 Hypothyroidism, congenital NOT_TRANSLATED +HP:0000851 Underactive thyroid gland from birth NOT_TRANSLATED +HP:0000853 Enlarged thyroid gland in neck NOT_TRANSLATED +HP:0000853 Goitre NOT_TRANSLATED +HP:0000853 Thyroid goiter NOT_TRANSLATED +HP:0000853 Thyroid goitre NOT_TRANSLATED +HP:0000855 Body fails to respond to insulin NOT_TRANSLATED +HP:0000858 Irregular menses NOT_TRANSLATED +HP:0000858 Irregular periods NOT_TRANSLATED +HP:0000858 Menstrual irregularities NOT_TRANSLATED +HP:0000858 Menstrual irregularity NOT_TRANSLATED +HP:0000859 Elevated plasma aldosterone NOT_TRANSLATED +HP:0000859 Increased aldosterone NOT_TRANSLATED +HP:0000859 Increased aldosterone production NOT_TRANSLATED +HP:0000859 Mineralocorticoid excess NOT_TRANSLATED +HP:0000860 Small parathyroid glands NOT_TRANSLATED +HP:0000860 Underdeveloped parathyroid glands NOT_TRANSLATED +HP:0000863 Neurohypophyseal diabetes insipidus NOT_TRANSLATED +HP:0000866 Euthyroid multinodular goitre NOT_TRANSLATED +HP:0000868 Reduced fertility in females NOT_TRANSLATED +HP:0000869 Previous menstrual periods stop NOT_TRANSLATED +HP:0000870 Hyperprolactinaemia NOT_TRANSLATED +HP:0000870 Hyperprolactinemia NOT_TRANSLATED +HP:0000870 Prolactin excess NOT_TRANSLATED +HP:0000872 Chronic lymphocytic thyroiditis NOT_TRANSLATED +HP:0000872 Hashimoto's thyroiditis NOT_TRANSLATED +HP:0000875 Intermittent high blood pressure NOT_TRANSLATED +HP:0000876 Light or infrequent menstrual periods NOT_TRANSLATED +HP:0000879 Hypoplastic sternum NOT_TRANSLATED +HP:0000882 Hypoplastic scapula NOT_TRANSLATED +HP:0000882 Scapular hypoplasia NOT_TRANSLATED +HP:0000882 Short scapulae NOT_TRANSLATED +HP:0000882 Small scapula NOT_TRANSLATED +HP:0000882 Small scapulae NOT_TRANSLATED +HP:0000882 Small shoulder blade NOT_TRANSLATED +HP:0000883 Slender ribs NOT_TRANSLATED +HP:0000884 Sternal protrusion NOT_TRANSLATED +HP:0000885 Wide ribs NOT_TRANSLATED +HP:0000887 Rib cupping NOT_TRANSLATED +HP:0000887 Rib flaring NOT_TRANSLATED +HP:0000889 Abnormal clavicles NOT_TRANSLATED +HP:0000889 Abnormal collarbone NOT_TRANSLATED +HP:0000889 Abnormality of the clavicle NOT_TRANSLATED +HP:0000890 Elongated clavicles NOT_TRANSLATED +HP:0000890 Long collarbone NOT_TRANSLATED +HP:0000892 Cleft ribs NOT_TRANSLATED +HP:0000892 Split ribs NOT_TRANSLATED +HP:0000894 Clavicular hypoplasia NOT_TRANSLATED +HP:0000894 Hypoplastic clavicles NOT_TRANSLATED +HP:0000894 Short collarbone NOT_TRANSLATED +HP:0000894 Underdeveloped clavicles NOT_TRANSLATED +HP:0000895 Handlebar clavicle NOT_TRANSLATED +HP:0000895 Hook-shaped clavicle NOT_TRANSLATED +HP:0000895 Hook-shaped collarbone NOT_TRANSLATED +HP:0000895 Hooked clavicle NOT_TRANSLATED +HP:0000902 Fused ribs NOT_TRANSLATED +HP:0000904 Anterior flaring of ribs NOT_TRANSLATED +HP:0000905 Progressive acroosteolysis of the clavicle NOT_TRANSLATED +HP:0000907 Anterior cupping of ribs NOT_TRANSLATED +HP:0000907 Anteriorly splayed ribs NOT_TRANSLATED +HP:0000912 Congenital, upward displacement of the scapula NOT_TRANSLATED +HP:0000912 High scapula NOT_TRANSLATED +HP:0000912 High shoulder blade NOT_TRANSLATED +HP:0000912 Sprengel deformity NOT_TRANSLATED +HP:0000914 Broad chest NOT_TRANSLATED +HP:0000915 Pectus excavatum inferiorly NOT_TRANSLATED +HP:0000916 Broad collarbone NOT_TRANSLATED +HP:0000917 Pectus carinatum superiorly NOT_TRANSLATED +HP:0000918 Scapulae exostoses NOT_TRANSLATED +HP:0000918 Shoulder bone exostoes NOT_TRANSLATED +HP:0000919 Costochondral juctions abnormal NOT_TRANSLATED +HP:0000920 Costochondral thickening NOT_TRANSLATED +HP:0000920 Enlarged costochondral junctions NOT_TRANSLATED +HP:0000920 Prominent costochondral junction NOT_TRANSLATED +HP:0000920 Wide costochondral junctions NOT_TRANSLATED +HP:0000920 Widened costochondral junction NOT_TRANSLATED +HP:0000921 Absent ribs NOT_TRANSLATED +HP:0000921 Decreased rib number NOT_TRANSLATED +HP:0000922 Anterior and posterior rib cupping NOT_TRANSLATED +HP:0000924 Skeletal abnormalities NOT_TRANSLATED +HP:0000924 Skeletal anomalies NOT_TRANSLATED +HP:0000925 Abnormal spine NOT_TRANSLATED +HP:0000925 Abnormal vertebral column NOT_TRANSLATED +HP:0000925 Abnormality of the backbone NOT_TRANSLATED +HP:0000925 Abnormality of the spine NOT_TRANSLATED +HP:0000926 Flat vertebral bodies NOT_TRANSLATED +HP:0000926 Flattened vertebrae NOT_TRANSLATED +HP:0000926 Flattened vertebral bodies NOT_TRANSLATED +HP:0000929 Abnormality of the skull NOT_TRANSLATED +HP:0000929 Abnormality of the skull bones NOT_TRANSLATED +HP:0000930 Elevated imprint of occipital bone over the transverse sinuses NOT_TRANSLATED +HP:0000930 Elevated imprint of posterior skull bones over the transverse sinuses NOT_TRANSLATED +HP:0000930 Thinning and bulging of occipital bone over the transverse sinuses NOT_TRANSLATED +HP:0000930 Thinning and bulging of posterior skull bones over the transverse sinuses NOT_TRANSLATED +HP:0000931 Thinning and bulging of occipital bone of skull NOT_TRANSLATED +HP:0000931 Thinning and bulging of posterior fossa bones NOT_TRANSLATED +HP:0000931 Thinning and bulging of posterior skull bones NOT_TRANSLATED +HP:0000932 Abnormality of the posterior cranial fossa NOT_TRANSLATED +HP:0000932 Abnormality of the posterior fossa NOT_TRANSLATED +HP:0000932 Posterior fossa anomaly NOT_TRANSLATED +HP:0000934 Calcium deposits in joints NOT_TRANSLATED +HP:0000935 Broad cortex of long bones NOT_TRANSLATED +HP:0000935 Cortical thickening of the long bones NOT_TRANSLATED +HP:0000935 Thickened cortices of long bones NOT_TRANSLATED +HP:0000938 Generalised osteopenia NOT_TRANSLATED +HP:0000938 Generalized osteopenia NOT_TRANSLATED +HP:0000938 Osteopaenia NOT_TRANSLATED +HP:0000940 Abnormal shape of shaft of long bone NOT_TRANSLATED +HP:0000940 Abnormality involving the diaphyses of the limbs NOT_TRANSLATED +HP:0000940 Abnormality of shaft of long bone of the limbs NOT_TRANSLATED +HP:0000940 Abnormality of the diaphyses NOT_TRANSLATED +HP:0000940 Anomaly of the limb diaphyses NOT_TRANSLATED +HP:0000940 Anomaly of the limb diaphyses morphology NOT_TRANSLATED +HP:0000941 Short shaft of long bone NOT_TRANSLATED +HP:0000944 Abnormality of the wide portion of a long bone NOT_TRANSLATED +HP:0000946 Short and small iliac bones NOT_TRANSLATED +HP:0000946 Small iliac bones NOT_TRANSLATED +HP:0000946 Small wings of the pelvic girdle NOT_TRANSLATED +HP:0000947 Dumbbell widening of long bone metaphyses NOT_TRANSLATED +HP:0000951 Dermatopathy NOT_TRANSLATED +HP:0000951 Dermopathy NOT_TRANSLATED +HP:0000951 Skin abnormality NOT_TRANSLATED +HP:0000952 Icterus NOT_TRANSLATED +HP:0000952 Yellow skin NOT_TRANSLATED +HP:0000952 Yellowing of the skin NOT_TRANSLATED +HP:0000953 Cutaneous hyperpigmentation NOT_TRANSLATED +HP:0000953 Hyperpigmented lesion NOT_TRANSLATED +HP:0000953 Increased skin pigmentation NOT_TRANSLATED +HP:0000953 Melanoderma NOT_TRANSLATED +HP:0000953 Melanodermia NOT_TRANSLATED +HP:0000953 Patchy darkened skin NOT_TRANSLATED +HP:0000953 Skin hyperpigmentation NOT_TRANSLATED +HP:0000954 Simian crease NOT_TRANSLATED +HP:0000954 Simian creases NOT_TRANSLATED +HP:0000954 Simian line NOT_TRANSLATED +HP:0000954 Single flexion crease NOT_TRANSLATED +HP:0000954 Single palmar crease NOT_TRANSLATED +HP:0000954 Single palmar creases NOT_TRANSLATED +HP:0000954 Single transverse palmar creases NOT_TRANSLATED +HP:0000954 Transverse palmar crease NOT_TRANSLATED +HP:0000956 Darkened and thickened skin NOT_TRANSLATED +HP:0000956 Keratosis nigricans NOT_TRANSLATED +HP:0000957 Birthmark NOT_TRANSLATED +HP:0000957 Cafe au lait spots NOT_TRANSLATED +HP:0000957 Cafe-au-lait macule NOT_TRANSLATED +HP:0000957 Cafe-au-lait macules NOT_TRANSLATED +HP:0000957 Cafe-au-lait spots NOT_TRANSLATED +HP:0000957 Flat light-brown mark on skin NOT_TRANSLATED +HP:0000958 Xerosis NOT_TRANSLATED +HP:0000960 Pilonidal dimple NOT_TRANSLATED +HP:0000960 Spinal dimple NOT_TRANSLATED +HP:0000961 Blue discoloration of the skin NOT_TRANSLATED +HP:0000966 Decreased ability to sweat NOT_TRANSLATED +HP:0000966 Decreased sweating NOT_TRANSLATED +HP:0000966 Inadequate sweating NOT_TRANSLATED +HP:0000966 Oligohidrosis NOT_TRANSLATED +HP:0000966 Sweating, decreased NOT_TRANSLATED +HP:0000969 Dropsy NOT_TRANSLATED +HP:0000969 Fluid retention NOT_TRANSLATED +HP:0000969 Hydrops NOT_TRANSLATED +HP:0000969 Oedema NOT_TRANSLATED +HP:0000969 Water retention NOT_TRANSLATED +HP:0000970 Anhydrosis NOT_TRANSLATED +HP:0000970 Lack of sweating NOT_TRANSLATED +HP:0000970 Sudomotor dysfunction NOT_TRANSLATED +HP:0000970 Sweating dysfunction NOT_TRANSLATED +HP:0000971 Abnormalities of sweating NOT_TRANSLATED +HP:0000971 Abnormality of the sweat gland NOT_TRANSLATED +HP:0000971 Sweat gland disease NOT_TRANSLATED +HP:0000972 Hyperkeratosis of palms and soles NOT_TRANSLATED +HP:0000972 Hyperkeratosis of the palms and soles NOT_TRANSLATED +HP:0000972 Palmoplantar keratoses NOT_TRANSLATED +HP:0000972 Palmoplantar keratosis NOT_TRANSLATED +HP:0000972 Thick palms and soles NOT_TRANSLATED +HP:0000972 Thickened palms and soles NOT_TRANSLATED +HP:0000972 Thickening of the outer layer of the skin of the palms and soles NOT_TRANSLATED +HP:0000973 Chalazoderma NOT_TRANSLATED +HP:0000973 Cutaneous laxity NOT_TRANSLATED +HP:0000973 Dermatochalasia NOT_TRANSLATED +HP:0000973 Dermatomegaly NOT_TRANSLATED +HP:0000973 Elastolysis NOT_TRANSLATED +HP:0000973 Generalised elastolysis NOT_TRANSLATED +HP:0000973 Generalized elastolysis NOT_TRANSLATED +HP:0000973 Hanging skin NOT_TRANSLATED +HP:0000973 Hypoelastic skin NOT_TRANSLATED +HP:0000973 Inelastic skin NOT_TRANSLATED +HP:0000973 Lax skin NOT_TRANSLATED +HP:0000973 Loose and inelastic skin NOT_TRANSLATED +HP:0000973 Loose skin NOT_TRANSLATED +HP:0000973 Skin laxity NOT_TRANSLATED +HP:0000974 Hyperelastic skin NOT_TRANSLATED +HP:0000974 Skin hyperelasticity NOT_TRANSLATED +HP:0000974 Skin hyperextensibility NOT_TRANSLATED +HP:0000974 Stretchable skin NOT_TRANSLATED +HP:0000975 Diaphoresis NOT_TRANSLATED +HP:0000975 Excessive sweating NOT_TRANSLATED +HP:0000975 Increased sweating NOT_TRANSLATED +HP:0000975 Profuse sweating NOT_TRANSLATED +HP:0000975 Sweating NOT_TRANSLATED +HP:0000975 Sweating profusely NOT_TRANSLATED +HP:0000975 Sweating, increased NOT_TRANSLATED +HP:0000977 Velvety skin NOT_TRANSLATED +HP:0000977 Velvety skin texture NOT_TRANSLATED +HP:0000978 Bruisability NOT_TRANSLATED +HP:0000978 Bruise easily NOT_TRANSLATED +HP:0000978 Easy bruisability NOT_TRANSLATED +HP:0000978 Easy bruising NOT_TRANSLATED +HP:0000979 Blood spots NOT_TRANSLATED +HP:0000979 Red or purple spots on the skin NOT_TRANSLATED +HP:0000980 Paleness NOT_TRANSLATED +HP:0000980 Skin paleness NOT_TRANSLATED +HP:0000982 Palmar and plantar keratoderma NOT_TRANSLATED +HP:0000982 Thickening of palms and soles NOT_TRANSLATED +HP:0000987 Atypical scarring NOT_TRANSLATED +HP:0000988 Rash NOT_TRANSLATED +HP:0000989 Itching NOT_TRANSLATED +HP:0000989 Itchy skin NOT_TRANSLATED +HP:0000989 Skin itching NOT_TRANSLATED +HP:0000991 Xanthomata NOT_TRANSLATED +HP:0000991 Yellow bumps of fatty deposits on skin NOT_TRANSLATED +HP:0000992 Photosensitive skin NOT_TRANSLATED +HP:0000992 Photosensitive skin rashes NOT_TRANSLATED +HP:0000992 Photosensitivity NOT_TRANSLATED +HP:0000992 Sensitivity to sunlight NOT_TRANSLATED +HP:0000992 Skin photosensitivity NOT_TRANSLATED +HP:0000992 Sun sensitivity NOT_TRANSLATED +HP:0000993 Molluscoid pseudotumor NOT_TRANSLATED +HP:0000995 Beauty mark NOT_TRANSLATED +HP:0000995 Melanocytic naevus NOT_TRANSLATED +HP:0000995 Melanocytic nevi NOT_TRANSLATED +HP:0000995 Nevocellular nevi NOT_TRANSLATED +HP:0000995 Noncancerous mole NOT_TRANSLATED +HP:0000995 Pigmented naevi NOT_TRANSLATED +HP:0000995 Pigmented nevi NOT_TRANSLATED +HP:0000998 Excessive hair growth NOT_TRANSLATED +HP:0000998 Increased hair growth on body NOT_TRANSLATED +HP:0000999 Pus-filled lesion NOT_TRANSLATED +HP:0001000 Abnormal pigmentation NOT_TRANSLATED +HP:0001000 Abnormal skin color NOT_TRANSLATED +HP:0001000 Abnormal skin colour NOT_TRANSLATED +HP:0001000 Abnormal skin pigmentation NOT_TRANSLATED +HP:0001000 Abnormality of pigmentation NOT_TRANSLATED +HP:0001000 Pigmentary changes NOT_TRANSLATED +HP:0001000 Pigmentary skin changes NOT_TRANSLATED +HP:0001000 Pigmentation anomaly NOT_TRANSLATED +HP:0001001 Abnormality of fatty tissue below the skin NOT_TRANSLATED +HP:0001003 Liver spots NOT_TRANSLATED +HP:0001004 Lymphatic obstruction NOT_TRANSLATED +HP:0001004 Lymphoedema NOT_TRANSLATED +HP:0001004 Onset of lymphedema around puberty NOT_TRANSLATED +HP:0001004 Swelling caused by excess lymph fluid under skin NOT_TRANSLATED +HP:0001007 Excessive hairiness NOT_TRANSLATED +HP:0001009 Cutaneous telangiectasia NOT_TRANSLATED +HP:0001009 Spider veins NOT_TRANSLATED +HP:0001009 Telangiectases NOT_TRANSLATED +HP:0001010 Hypopigmentation NOT_TRANSLATED +HP:0001010 Hypopigmented skin NOT_TRANSLATED +HP:0001010 Patchy lightened skin NOT_TRANSLATED +HP:0001010 Skin hypopigmentation NOT_TRANSLATED +HP:0001012 Lipomas NOT_TRANSLATED +HP:0001012 Lipomatosis NOT_TRANSLATED +HP:0001012 Multiple fatty lumps NOT_TRANSLATED +HP:0001014 Angiokeratomas NOT_TRANSLATED +HP:0001015 Marked subcutaneous veins NOT_TRANSLATED +HP:0001015 Prominent veins NOT_TRANSLATED +HP:0001017 Anaemic pallor NOT_TRANSLATED +HP:0001019 Exfoliative dermititis NOT_TRANSLATED +HP:0001019 Generalised erythroderma NOT_TRANSLATED +HP:0001019 Generalised erythrodermia NOT_TRANSLATED +HP:0001019 Generalized erythroderma NOT_TRANSLATED +HP:0001019 Generalized erythrodermia NOT_TRANSLATED +HP:0001019 Red scaly skin caused by inflammatory skin disease NOT_TRANSLATED +HP:0001022 Achromasia NOT_TRANSLATED +HP:0001025 Hives NOT_TRANSLATED +HP:0001028 Hemangiomata NOT_TRANSLATED +HP:0001028 Strawberry mark NOT_TRANSLATED +HP:0001030 Skin fragility NOT_TRANSLATED +HP:0001032 Absence of skin creases over distal interphalangeal joints NOT_TRANSLATED +HP:0001032 Aplasia of the distal interphalangeal creases NOT_TRANSLATED +HP:0001032 Distal finger flexion creases absent NOT_TRANSLATED +HP:0001034 Hyperpigmented macules NOT_TRANSLATED +HP:0001034 Hyperpigmented skin patches NOT_TRANSLATED +HP:0001034 Hyperpigmented spots NOT_TRANSLATED +HP:0001041 Blushed cheeks NOT_TRANSLATED +HP:0001041 Blushing NOT_TRANSLATED +HP:0001041 Red face NOT_TRANSLATED +HP:0001041 Red in the face NOT_TRANSLATED +HP:0001041 Rosacea NOT_TRANSLATED +HP:0001041 Ruddy face NOT_TRANSLATED +HP:0001045 Blotchy loss of skin color NOT_TRANSLATED +HP:0001045 Blotchy loss of skin colour NOT_TRANSLATED +HP:0001046 Intermittent icterus NOT_TRANSLATED +HP:0001046 Intermittent yellow skin NOT_TRANSLATED +HP:0001046 Intermittent yellowing of skin NOT_TRANSLATED +HP:0001047 Atopic dermatitis, chronic NOT_TRANSLATED +HP:0001047 Baby eczema NOT_TRANSLATED +HP:0001047 Dermatitis, Atopic NOT_TRANSLATED +HP:0001048 Cavernous angioma NOT_TRANSLATED +HP:0001048 Cavernous haemangioma NOT_TRANSLATED +HP:0001048 Collection of dilated blood vessels that forms mass NOT_TRANSLATED +HP:0001051 Dysseborrheic dermatitis NOT_TRANSLATED +HP:0001051 Seborrhea NOT_TRANSLATED +HP:0001051 Seborrheic eczema NOT_TRANSLATED +HP:0001052 Nevus simplex NOT_TRANSLATED +HP:0001052 port-wine stain NOT_TRANSLATED +HP:0001053 Patchy loss of skin color NOT_TRANSLATED +HP:0001053 Patchy loss of skin colour NOT_TRANSLATED +HP:0001054 Multiple pigmented nevi NOT_TRANSLATED +HP:0001054 Numerous moles NOT_TRANSLATED +HP:0001055 St. Anthony's Fire NOT_TRANSLATED +HP:0001056 Milk spot NOT_TRANSLATED +HP:0001056 Millium cyst NOT_TRANSLATED +HP:0001057 Absence of part of skin at birth NOT_TRANSLATED +HP:0001057 Congenital absence of skin NOT_TRANSLATED +HP:0001057 Congenital scars NOT_TRANSLATED +HP:0001057 Cutis aplasia NOT_TRANSLATED +HP:0001059 Pterygia NOT_TRANSLATED +HP:0001060 Axillary pterygia NOT_TRANSLATED +HP:0001061 Breaking out NOT_TRANSLATED +HP:0001062 Atypical mole NOT_TRANSLATED +HP:0001062 Dysplastic Nevus NOT_TRANSLATED +HP:0001063 Persistent blue color of hands or feet NOT_TRANSLATED +HP:0001063 Persistent blue colour of hands or feet NOT_TRANSLATED +HP:0001065 Purplish striae NOT_TRANSLATED +HP:0001065 Stretch marks NOT_TRANSLATED +HP:0001065 Striae NOT_TRANSLATED +HP:0001065 Striae atrophicae NOT_TRANSLATED +HP:0001065 Striae cutis distensae NOT_TRANSLATED +HP:0001067 Neurofibromata NOT_TRANSLATED +HP:0001067 Neurofibromatosis NOT_TRANSLATED +HP:0001067 multiple neurofibromas NOT_TRANSLATED +HP:0001069 Hyperhidrosis, episodic NOT_TRANSLATED +HP:0001069 Sporadic excessive sweating NOT_TRANSLATED +HP:0001070 Mottled skin coloring NOT_TRANSLATED +HP:0001070 Mottled skin colouring NOT_TRANSLATED +HP:0001070 Stippled pigmentation NOT_TRANSLATED +HP:0001071 Fabry syndrome NOT_TRANSLATED +HP:0001072 Diffusely thickened skin NOT_TRANSLATED +HP:0001072 Pachydermia NOT_TRANSLATED +HP:0001072 Thick skin NOT_TRANSLATED +HP:0001073 Cigarette paper scarring NOT_TRANSLATED +HP:0001075 Sunken or indented skin due to damage NOT_TRANSLATED +HP:0001075 Thin, atrophic scars NOT_TRANSLATED +HP:0001076 Glabellair capillair hemangioom CANDIDATE +HP:0001080 Biliary tract disease NOT_TRANSLATED +HP:0001081 Galstenen CANDIDATE +HP:0001082 Gallbladder inflammation NOT_TRANSLATED +HP:0001083 Abnormality of lens position NOT_TRANSLATED +HP:0001083 Lens dislocation NOT_TRANSLATED +HP:0001084 Anterior embryotoxon NOT_TRANSLATED +HP:0001084 Arcus juvenilis NOT_TRANSLATED +HP:0001084 Arcus lipoidis NOT_TRANSLATED +HP:0001084 Arcus senilis NOT_TRANSLATED +HP:0001084 Corneal annulus NOT_TRANSLATED +HP:0001084 Gerontoxon NOT_TRANSLATED +HP:0001085 Papillitis NOT_TRANSLATED +HP:0001087 Childhood glaucoma NOT_TRANSLATED +HP:0001087 Infantile glaucoma NOT_TRANSLATED +HP:0001087 Paediatric glaucoma NOT_TRANSLATED +HP:0001087 Pediatric glaucoma NOT_TRANSLATED +HP:0001088 Iris brushfield spots NOT_TRANSLATED +HP:0001088 Speckled iris NOT_TRANSLATED +HP:0001089 Iris degeneration NOT_TRANSLATED +HP:0001090 Increased size of eyes NOT_TRANSLATED +HP:0001090 Increased size of palpebral fissures NOT_TRANSLATED +HP:0001090 Large eyeballs NOT_TRANSLATED +HP:0001090 Large eyes NOT_TRANSLATED +HP:0001090 Large of palpebral fissures NOT_TRANSLATED +HP:0001090 Megalophthalmos NOT_TRANSLATED +HP:0001092 Absent lacrimal gland puncta NOT_TRANSLATED +HP:0001092 Absent lacrimal openings NOT_TRANSLATED +HP:0001092 Absent lacrimal puncta NOT_TRANSLATED +HP:0001092 Agenesis of the lacrimal punctum NOT_TRANSLATED +HP:0001092 Aplasia of lacrimal puncta NOT_TRANSLATED +HP:0001092 Lacrimal puncta aplasia NOT_TRANSLATED +HP:0001092 Lacrimal punctum, absence NOT_TRANSLATED +HP:0001097 Dry eye syndrome NOT_TRANSLATED +HP:0001097 Dry eyes NOT_TRANSLATED +HP:0001097 Keratitis sicca NOT_TRANSLATED +HP:0001097 Xerophthalmia NOT_TRANSLATED +HP:0001098 Abnormality of the fundus NOT_TRANSLATED +HP:0001100 Different colored eyes NOT_TRANSLATED +HP:0001100 Different coloured eyes NOT_TRANSLATED +HP:0001100 Heterochromia irides NOT_TRANSLATED +HP:0001101 Inflammation of iris NOT_TRANSLATED +HP:0001102 Angioid streaks NOT_TRANSLATED +HP:0001102 Angioid streaks of the retina NOT_TRANSLATED +HP:0001102 Angioid streaks, retina NOT_TRANSLATED +HP:0001102 Knapp streaks NOT_TRANSLATED +HP:0001102 Laquer cracks of the retina NOT_TRANSLATED +HP:0001103 Abnormality of the macula NOT_TRANSLATED +HP:0001103 Macula abnormality NOT_TRANSLATED +HP:0001103 Macular abnormality NOT_TRANSLATED +HP:0001106 Dark circles around the eyes NOT_TRANSLATED +HP:0001106 Dark circles under the eyes NOT_TRANSLATED +HP:0001106 Darkening around the eyes NOT_TRANSLATED +HP:0001106 Idiopathic cutaneous hyperchromia at the orbital region NOT_TRANSLATED +HP:0001106 Infraorbital pigmentation NOT_TRANSLATED +HP:0001106 Periorbital melanosis NOT_TRANSLATED +HP:0001106 Pigmentation around the eyes NOT_TRANSLATED +HP:0001107 Absent pigmentation in the eye NOT_TRANSLATED +HP:0001107 Albinism, Ocular NOT_TRANSLATED +HP:0001112 Leber optic atrophy features NOT_TRANSLATED +HP:0001112 Leber optic degeneration NOT_TRANSLATED +HP:0001114 Fatty deposits in skin around the eyes NOT_TRANSLATED +HP:0001114 Fatty deposits on eyelids NOT_TRANSLATED +HP:0001114 Xanthelasma of eyelid NOT_TRANSLATED +HP:0001114 Xanthelasma of periocular region NOT_TRANSLATED +HP:0001114 Xanthelasma palpebrarum NOT_TRANSLATED +HP:0001114 Xanthoma NOT_TRANSLATED +HP:0001114 Xanthoma of eyelid NOT_TRANSLATED +HP:0001114 Xanthoma of periocular region NOT_TRANSLATED +HP:0001115 Polar cataract, posterior NOT_TRANSLATED +HP:0001116 Coloboma of the macula NOT_TRANSLATED +HP:0001117 Sudden central visual loss NOT_TRANSLATED +HP:0001117 Sudden decrease in vision NOT_TRANSLATED +HP:0001123 Partial loss of field of vision NOT_TRANSLATED +HP:0001123 Visual field defects NOT_TRANSLATED +HP:0001125 Hemianopic blurring NOT_TRANSLATED +HP:0001125 Hemianoptic blurring of vision NOT_TRANSLATED +HP:0001125 Transient unilateral blurred vision NOT_TRANSLATED +HP:0001128 Ingrown eyelashes NOT_TRANSLATED +HP:0001128 Introversion of eyelashes NOT_TRANSLATED +HP:0001128 Trichiasis of eyelid eyelashes NOT_TRANSLATED +HP:0001129 Large central loss of field of vision NOT_TRANSLATED +HP:0001132 Partially dislocated lens NOT_TRANSLATED +HP:0001133 Concentric narrowing of visual field NOT_TRANSLATED +HP:0001133 Constricted visual field NOT_TRANSLATED +HP:0001133 Constricted visual fields NOT_TRANSLATED +HP:0001133 Limited peripheral vision NOT_TRANSLATED +HP:0001133 Reduced peripheral vision NOT_TRANSLATED +HP:0001133 Visual field constriction NOT_TRANSLATED +HP:0001134 Polar cataract, anterior NOT_TRANSLATED +HP:0001136 Tortuous retinal arterioles NOT_TRANSLATED +HP:0001137 Alternating cross eyes NOT_TRANSLATED +HP:0001138 Damaged optic nerve NOT_TRANSLATED +HP:0001140 Benign eye tumor NOT_TRANSLATED +HP:0001140 Benign eye tumour NOT_TRANSLATED +HP:0001140 Epibulbar dermoid NOT_TRANSLATED +HP:0001140 Epibulbar dermoids NOT_TRANSLATED +HP:0001141 Marked vision impairment NOT_TRANSLATED +HP:0001141 Severe reduction in visual acuity NOT_TRANSLATED +HP:0001141 Severe vision loss NOT_TRANSLATED +HP:0001141 Severe visual impairment NOT_TRANSLATED +HP:0001141 Severe visual loss NOT_TRANSLATED +HP:0001141 Severely impaired vision NOT_TRANSLATED +HP:0001144 Cyst of eye socket NOT_TRANSLATED +HP:0001144 Orbital cysts NOT_TRANSLATED +HP:0001147 Retinal exudates NOT_TRANSLATED +HP:0001149 Biber haab dimmer dystrophy NOT_TRANSLATED +HP:0001151 Abnormal horizontal ocular pursuit NOT_TRANSLATED +HP:0001151 Impaired horizontal visual pursuit NOT_TRANSLATED +HP:0001152 Saccadic pursuit movements NOT_TRANSLATED +HP:0001152 Saccadic slow pursuit NOT_TRANSLATED +HP:0001153 Double vagina NOT_TRANSLATED +HP:0001155 Abnormal hands NOT_TRANSLATED +HP:0001155 Hand anomalies NOT_TRANSLATED +HP:0001155 Hand deformities NOT_TRANSLATED +HP:0001156 Brachydactyly syndrome NOT_TRANSLATED +HP:0001156 Short fingers or toes NOT_TRANSLATED +HP:0001159 Webbed fingers or toes NOT_TRANSLATED +HP:0001161 Extra finger NOT_TRANSLATED +HP:0001161 Finger polydactyly NOT_TRANSLATED +HP:0001161 Polydactyly of the hand NOT_TRANSLATED +HP:0001161 Supernumerary finger NOT_TRANSLATED +HP:0001162 Extra little finger NOT_TRANSLATED +HP:0001162 Extra pinkie finger NOT_TRANSLATED +HP:0001162 Extra pinky finger NOT_TRANSLATED +HP:0001162 Polydactyly affecting the 5th finger NOT_TRANSLATED +HP:0001162 Postaxial polydactyly of fingers NOT_TRANSLATED +HP:0001162 Postaxial polydactyly of hand NOT_TRANSLATED +HP:0001162 Postaxial polydactyly of hands NOT_TRANSLATED +HP:0001166 Long slender fingers NOT_TRANSLATED +HP:0001166 Long, slender fingers NOT_TRANSLATED +HP:0001166 Spider fingers NOT_TRANSLATED +HP:0001167 Abnormalities of the fingers NOT_TRANSLATED +HP:0001169 Broad hand NOT_TRANSLATED +HP:0001169 Broad hands NOT_TRANSLATED +HP:0001169 Wide palm NOT_TRANSLATED +HP:0001171 Ectrodactyly of the hand NOT_TRANSLATED +HP:0001171 Hand ectrodactyly NOT_TRANSLATED +HP:0001171 Split-hand NOT_TRANSLATED +HP:0001172 Abnormality of the thumb NOT_TRANSLATED +HP:0001172 Abnormality of the thumbs NOT_TRANSLATED +HP:0001172 Thumb deformity NOT_TRANSLATED +HP:0001176 Disproportionately large hands NOT_TRANSLATED +HP:0001176 large hand NOT_TRANSLATED +HP:0001177 Extra thumb NOT_TRANSLATED +HP:0001177 Polydactyly affecting the thumb NOT_TRANSLATED +HP:0001177 Preaxial polydactyly of hands NOT_TRANSLATED +HP:0001177 Supernumerary thumb NOT_TRANSLATED +HP:0001177 thumb polydactyly NOT_TRANSLATED +HP:0001180 Hand has less than 5 fingers NOT_TRANSLATED +HP:0001181 Adducted thumbs NOT_TRANSLATED +HP:0001181 Inward turned thumb NOT_TRANSLATED +HP:0001181 Thumb-in-palm deformity NOT_TRANSLATED +HP:0001181 Thumb-in-palm pattern NOT_TRANSLATED +HP:0001182 Distally tapering fingers NOT_TRANSLATED +HP:0001182 Tapered fingers NOT_TRANSLATED +HP:0001182 Tapered fingertips NOT_TRANSLATED +HP:0001182 Tapering fingers NOT_TRANSLATED +HP:0001187 Finger joint hyperextensibility NOT_TRANSLATED +HP:0001187 Hyperextensible digits NOT_TRANSLATED +HP:0001187 Hyperextensible finger NOT_TRANSLATED +HP:0001187 Hyperextensible fingers NOT_TRANSLATED +HP:0001188 Clenched hand NOT_TRANSLATED +HP:0001188 Clenched hands NOT_TRANSLATED +HP:0001191 Abnormal carpal bones NOT_TRANSLATED +HP:0001191 Abnormal wrist bones NOT_TRANSLATED +HP:0001191 Abnormality of the carpal bones NOT_TRANSLATED +HP:0001191 Anomalous carpal bones NOT_TRANSLATED +HP:0001191 Carpal bone anomalies NOT_TRANSLATED +HP:0001195 2 vessel cord NOT_TRANSLATED +HP:0001195 2 vessel umbilical cord NOT_TRANSLATED +HP:0001195 Only one artery in umbilical cord instead of two NOT_TRANSLATED +HP:0001195 Two vessel cord NOT_TRANSLATED +HP:0001195 Two vessel umbilical cord NOT_TRANSLATED +HP:0001195 Two-vessel cord NOT_TRANSLATED +HP:0001199 Accessory phalanx of the thumb NOT_TRANSLATED +HP:0001199 Digitalized thumb NOT_TRANSLATED +HP:0001199 Finger-like thumb NOT_TRANSLATED +HP:0001199 Triphalangeal thumbs NOT_TRANSLATED +HP:0001199 Triphalangy of thumb NOT_TRANSLATED +HP:0001204 Fused outermost bones of hand NOT_TRANSLATED +HP:0001204 Symphalangism affecting the distal phalanges of the hand NOT_TRANSLATED +HP:0001204 Synostosis of distal phalanges NOT_TRANSLATED +HP:0001204 Terminal symphalangism NOT_TRANSLATED +HP:0001211 Abnormality of the fingertips NOT_TRANSLATED +HP:0001212 Persistence of fingerpads NOT_TRANSLATED +HP:0001212 Persistent fetal fingertip pads NOT_TRANSLATED +HP:0001212 Persistent foetal fingertip pads NOT_TRANSLATED +HP:0001212 Prominent finger pads NOT_TRANSLATED +HP:0001216 Carpal delayed ossification NOT_TRANSLATED +HP:0001216 Delayed carpal bone age NOT_TRANSLATED +HP:0001216 Delayed carpal ossification NOT_TRANSLATED +HP:0001216 Delayed maturation of carpal bones NOT_TRANSLATED +HP:0001216 Delayed maturation of wrist bone NOT_TRANSLATED +HP:0001217 Clubbing of fingers and toes NOT_TRANSLATED +HP:0001217 Digital clubbing NOT_TRANSLATED +HP:0001220 Interphalangeal joint flexion contractures NOT_TRANSLATED +HP:0001222 Spoon shaped thumbs NOT_TRANSLATED +HP:0001227 Thenar abnormality NOT_TRANSLATED +HP:0001230 Wide long bones of hand NOT_TRANSLATED +HP:0001230 Wide metacarpals NOT_TRANSLATED +HP:0001231 Abnormal fingernails NOT_TRANSLATED +HP:0001231 Abnormality of the fingernails NOT_TRANSLATED +HP:0001232 Nail bed telangiectases NOT_TRANSLATED +HP:0001233 Syndactyly 2nd-3rd fingers NOT_TRANSLATED +HP:0001233 Syndactyly, 2-3 finger NOT_TRANSLATED +HP:0001233 Webbed 2nd-3rd fingers NOT_TRANSLATED +HP:0001234 Abducted thumb NOT_TRANSLATED +HP:0001238 Narrow fingers NOT_TRANSLATED +HP:0001238 Slender fingers NOT_TRANSLATED +HP:0001238 thin fingers NOT_TRANSLATED +HP:0001239 Wrist contracture NOT_TRANSLATED +HP:0001239 Wrist flexion deformity NOT_TRANSLATED +HP:0001241 Capitate-hamate fusions NOT_TRANSLATED +HP:0001241 Fused capitate and hamate NOT_TRANSLATED +HP:0001241 Fusion of capitate and hamate NOT_TRANSLATED +HP:0001241 Fusion of hamate and capitate NOT_TRANSLATED +HP:0001245 Decreased thenar eminence NOT_TRANSLATED +HP:0001245 Hypoplastic thenar eminences NOT_TRANSLATED +HP:0001245 Thenar hypoplasia NOT_TRANSLATED +HP:0001245 Thenar muscle hypoplasia NOT_TRANSLATED +HP:0001248 Shortened short tubular bones of the hand NOT_TRANSLATED +HP:0001249 Dull intelligence NOT_TRANSLATED +HP:0001249 Low intelligence NOT_TRANSLATED +HP:0001249 Mental deficiency NOT_TRANSLATED +HP:0001249 Mental retardation NOT_TRANSLATED +HP:0001249 Mental retardation, nonspecific NOT_TRANSLATED +HP:0001249 Mental-retardation NOT_TRANSLATED +HP:0001249 Nonprogressive intellectual disability NOT_TRANSLATED +HP:0001249 Nonprogressive mental retardation NOT_TRANSLATED +HP:0001249 Poor school performance NOT_TRANSLATED +HP:0001250 Epilepsy NOT_TRANSLATED +HP:0001250 Epileptic seizure NOT_TRANSLATED +HP:0001250 Seizures NOT_TRANSLATED +HP:0001251 Cerebellar ataxia NOT_TRANSLATED +HP:0001252 Central hypotonia NOT_TRANSLATED +HP:0001252 Low muscle tone NOT_TRANSLATED +HP:0001252 Low or weak muscle tone NOT_TRANSLATED +HP:0001252 Muscle hypotonia NOT_TRANSLATED +HP:0001252 Muscular hypotonia NOT_TRANSLATED +HP:0001252 Peripheral hypotonia NOT_TRANSLATED +HP:0001256 Mentale retardatie, borderline-mild CANDIDATE +HP:0001256 Mentale retardatie, mild CANDIDATE +HP:0001256 Milde en niet progressieve mentale retardatie CANDIDATE +HP:0001256 Milde mentale retardatie CANDIDATE +HP:0001257 Involuntary muscle stiffness, contraction, or spasm NOT_TRANSLATED +HP:0001257 Muscle spasticity NOT_TRANSLATED +HP:0001257 Muscular spasticity NOT_TRANSLATED +HP:0001258 Spastic paraplegia, lower limb NOT_TRANSLATED +HP:0001260 Difficulty articulating speech NOT_TRANSLATED +HP:0001260 Dysarthric speech NOT_TRANSLATED +HP:0001262 Excessive daytime sleepiness NOT_TRANSLATED +HP:0001262 More than typical sleepiness during day NOT_TRANSLATED +HP:0001263 Cognitive delay NOT_TRANSLATED +HP:0001263 Delayed cognitive development NOT_TRANSLATED +HP:0001263 Delayed development NOT_TRANSLATED +HP:0001263 Delayed developmental milestones NOT_TRANSLATED +HP:0001263 Delayed intellectual development NOT_TRANSLATED +HP:0001263 Delayed milestones NOT_TRANSLATED +HP:0001263 Delayed psychomotor development NOT_TRANSLATED +HP:0001263 Developmental delay NOT_TRANSLATED +HP:0001263 Developmental delay in early childhood NOT_TRANSLATED +HP:0001263 Developmental delay, global NOT_TRANSLATED +HP:0001263 Developmental retardation NOT_TRANSLATED +HP:0001263 Lack of psychomotor development NOT_TRANSLATED +HP:0001263 Mental and motor retardation NOT_TRANSLATED +HP:0001263 Motor and developmental delay NOT_TRANSLATED +HP:0001263 Motormental retardation NOT_TRANSLATED +HP:0001263 Psychomotor delay NOT_TRANSLATED +HP:0001263 Psychomotor development deficiency NOT_TRANSLATED +HP:0001263 Psychomotor development failure NOT_TRANSLATED +HP:0001263 Psychomotor developmental delay NOT_TRANSLATED +HP:0001263 Retarded development NOT_TRANSLATED +HP:0001263 Retarded mental development NOT_TRANSLATED +HP:0001263 Retarded psychomotor development NOT_TRANSLATED +HP:0001264 Spastic diparesis NOT_TRANSLATED +HP:0001264 Spastic diplegic NOT_TRANSLATED +HP:0001265 Decreased reflex response NOT_TRANSLATED +HP:0001265 Decreased reflexes NOT_TRANSLATED +HP:0001266 Choreoathetoid movements NOT_TRANSLATED +HP:0001268 Cognitive decline NOT_TRANSLATED +HP:0001268 Cognitive decline, progressive NOT_TRANSLATED +HP:0001268 Intellectual deterioration NOT_TRANSLATED +HP:0001268 Progressive cognitive decline NOT_TRANSLATED +HP:0001269 Weakness of one side of body NOT_TRANSLATED +HP:0001270 Delay in motor development NOT_TRANSLATED +HP:0001270 Delayed early motor milestones NOT_TRANSLATED +HP:0001270 Delayed motor development NOT_TRANSLATED +HP:0001270 Delayed motor milestones NOT_TRANSLATED +HP:0001270 Locomotor delay NOT_TRANSLATED +HP:0001270 Motor developmental delay NOT_TRANSLATED +HP:0001270 Motor developmental milestones not achieved NOT_TRANSLATED +HP:0001270 Motor retardation NOT_TRANSLATED +HP:0001270 No development of motor milestones NOT_TRANSLATED +HP:0001270 Retarded motor development NOT_TRANSLATED +HP:0001271 Peripheral nerve disease NOT_TRANSLATED +HP:0001272 Atrophic cerebellum NOT_TRANSLATED +HP:0001272 Degeneration of cerebellum NOT_TRANSLATED +HP:0001272 Infratentorial atrophy NOT_TRANSLATED +HP:0001273 Abnormal corpus callosum NOT_TRANSLATED +HP:0001273 Abnormality of the corpus callosum NOT_TRANSLATED +HP:0001273 Corpus callosum abnormality NOT_TRANSLATED +HP:0001274 Absence of corpus callosum NOT_TRANSLATED +HP:0001274 Absent corpus callosum NOT_TRANSLATED +HP:0001274 Agenesis of the corpus callosum NOT_TRANSLATED +HP:0001274 Callosal agenesis NOT_TRANSLATED +HP:0001274 Corpus callosum agenesis NOT_TRANSLATED +HP:0001274 Dysplastic or absent corpus callosum NOT_TRANSLATED +HP:0001276 Hypertonicity NOT_TRANSLATED +HP:0001276 Increased muscle tone NOT_TRANSLATED +HP:0001276 Muscle hypertonia NOT_TRANSLATED +HP:0001276 Spasticity and rigidity of muscles NOT_TRANSLATED +HP:0001278 Decrease in blood pressure upon standing up NOT_TRANSLATED +HP:0001278 Postural hypotension NOT_TRANSLATED +HP:0001279 Fainting spell NOT_TRANSLATED +HP:0001281 Intermittent involuntary muscle spasm NOT_TRANSLATED +HP:0001283 Bulbar muscle weakness NOT_TRANSLATED +HP:0001283 Bulbar palsies NOT_TRANSLATED +HP:0001283 Bulbar weakness NOT_TRANSLATED +HP:0001284 Absent deep tendon reflexes NOT_TRANSLATED +HP:0001284 Absent reflexes NOT_TRANSLATED +HP:0001284 Absent tendon reflexes NOT_TRANSLATED +HP:0001284 Deep tendon reflexes absent NOT_TRANSLATED +HP:0001284 Loss of deep tendon reflexes NOT_TRANSLATED +HP:0001285 Spastic quadriparesis NOT_TRANSLATED +HP:0001288 Abnormal gait NOT_TRANSLATED +HP:0001288 Abnormal walk NOT_TRANSLATED +HP:0001288 Gait abnormalities NOT_TRANSLATED +HP:0001288 Gait difficulties NOT_TRANSLATED +HP:0001288 Gait disturbances NOT_TRANSLATED +HP:0001288 Impaired gait NOT_TRANSLATED +HP:0001289 Disorientation NOT_TRANSLATED +HP:0001289 Easily confused NOT_TRANSLATED +HP:0001289 Mental disorientation NOT_TRANSLATED +HP:0001290 Generalised decreased muscle tone NOT_TRANSLATED +HP:0001290 Generalised hypotonia NOT_TRANSLATED +HP:0001290 Generalised muscular hypotonia NOT_TRANSLATED +HP:0001290 Generalized decreased muscle tone NOT_TRANSLATED +HP:0001290 Generalized muscular hypotonia NOT_TRANSLATED +HP:0001290 Hypotonia, generalised NOT_TRANSLATED +HP:0001290 Hypotonia, generalized NOT_TRANSLATED +HP:0001291 Abnormality of cranial nerve NOT_TRANSLATED +HP:0001291 Abnormality of the cranial nerves NOT_TRANSLATED +HP:0001291 Cranial nerve abnormality NOT_TRANSLATED +HP:0001291 Cranial nerve disease NOT_TRANSLATED +HP:0001291 Cranial nerve involvement NOT_TRANSLATED +HP:0001297 Cerebral vascular events NOT_TRANSLATED +HP:0001297 Cerebrovascular accident NOT_TRANSLATED +HP:0001297 Cerebrovascular accidents NOT_TRANSLATED +HP:0001300 Parkinsonian disease NOT_TRANSLATED +HP:0001302 Cerebral pachygyria NOT_TRANSLATED +HP:0001302 Fewer and broader ridges in brain NOT_TRANSLATED +HP:0001304 Dystonia musculorum deformans NOT_TRANSLATED +HP:0001305 Dandy-Walker cyst NOT_TRANSLATED +HP:0001305 Dandy-walker anomaly NOT_TRANSLATED +HP:0001308 Lingual fasciculations NOT_TRANSLATED +HP:0001308 Lingual fibrillations NOT_TRANSLATED +HP:0001308 Lingual twitching NOT_TRANSLATED +HP:0001308 Tongue fasciculation NOT_TRANSLATED +HP:0001308 Tongue fasciculations/fibrillations NOT_TRANSLATED +HP:0001308 Tongue twitching NOT_TRANSLATED +HP:0001308 Twitching of the tongue NOT_TRANSLATED +HP:0001310 Abnormal finger chase test NOT_TRANSLATED +HP:0001310 Abnormal finger-nose-finger test NOT_TRANSLATED +HP:0001310 Lack of coordination of movement NOT_TRANSLATED +HP:0001311 Neurophysiologic abnormalities NOT_TRANSLATED +HP:0001311 Neurophysiologic abnormality NOT_TRANSLATED +HP:0001312 Giant SEPS NOT_TRANSLATED +HP:0001315 Absent or decreased deep tendon reflexes NOT_TRANSLATED +HP:0001315 Decreased deep tendon reflexes NOT_TRANSLATED +HP:0001315 Decreased tendon reflexes NOT_TRANSLATED +HP:0001315 Decreased to absent deep tendon reflexes NOT_TRANSLATED +HP:0001315 Decreased/absent deep tendon reflexes NOT_TRANSLATED +HP:0001315 Depressed tendon reflexes NOT_TRANSLATED +HP:0001315 Diminished deep tendon reflexes NOT_TRANSLATED +HP:0001315 Diminished or absent deep tendon reflexes NOT_TRANSLATED +HP:0001315 Diminished or absent tendon reflexes NOT_TRANSLATED +HP:0001315 Hypoactive to absent deep tendon reflexes NOT_TRANSLATED +HP:0001315 Impaired tendon reflexes NOT_TRANSLATED +HP:0001315 Reduced/absent deep tendon reflexes NOT_TRANSLATED +HP:0001315 Weak or absent deep tendon reflexes NOT_TRANSLATED +HP:0001317 Abnormality of the cerebellum NOT_TRANSLATED +HP:0001317 Cerebellar abnormalities NOT_TRANSLATED +HP:0001317 Cerebellar abnormality NOT_TRANSLATED +HP:0001317 Cerebellar anomaly NOT_TRANSLATED +HP:0001317 Cerebellar signs NOT_TRANSLATED +HP:0001319 Congenital hypotonia NOT_TRANSLATED +HP:0001319 Hypotonia, in neonatal onset NOT_TRANSLATED +HP:0001319 Hypotonia, neonatal NOT_TRANSLATED +HP:0001319 Low muscle tone, in neonatal onset NOT_TRANSLATED +HP:0001320 Cerebellar vermal hypoplasia NOT_TRANSLATED +HP:0001320 Hypoplasia of the cerebellar vermis NOT_TRANSLATED +HP:0001320 Hypoplastic cerebellar vermis NOT_TRANSLATED +HP:0001321 Congenital cerebellar hypoplasia NOT_TRANSLATED +HP:0001321 Hypoplasia of cerebellum NOT_TRANSLATED +HP:0001321 Hypoplastic cerebellum NOT_TRANSLATED +HP:0001321 Small cerebellum NOT_TRANSLATED +HP:0001321 Underdeveloped cerebellum NOT_TRANSLATED +HP:0001324 Muscular weakness NOT_TRANSLATED +HP:0001325 Coma caused by low blood sugar NOT_TRANSLATED +HP:0001325 Coma, hypoglycemic NOT_TRANSLATED +HP:0001325 Hypoglycaemic coma NOT_TRANSLATED +HP:0001325 Loss of consciousness due to hypoglycemia NOT_TRANSLATED +HP:0001326 EEG with irregular generalised spike and wave complexes NOT_TRANSLATED +HP:0001327 Photically induced myoclonic seizure NOT_TRANSLATED +HP:0001327 Photomyoclonic seizure NOT_TRANSLATED +HP:0001327 Photomyoclonic seizures NOT_TRANSLATED +HP:0001331 Absence of septum pellucidum NOT_TRANSLATED +HP:0001331 Absence of the septum pellucidum NOT_TRANSLATED +HP:0001331 Agenesis of the septum pellucidum NOT_TRANSLATED +HP:0001331 Missing septum pellucidum NOT_TRANSLATED +HP:0001332 Dystonic disease NOT_TRANSLATED +HP:0001332 Dystonic movements NOT_TRANSLATED +HP:0001335 Hand mirror movements NOT_TRANSLATED +HP:0001335 Mirror hand movements NOT_TRANSLATED +HP:0001335 Mirror movements NOT_TRANSLATED +HP:0001336 Involuntary jerking movements NOT_TRANSLATED +HP:0001336 Jerking NOT_TRANSLATED +HP:0001336 Myoclonic jerks NOT_TRANSLATED +HP:0001337 Tremors NOT_TRANSLATED +HP:0001338 Corpus callosum agenesis, partial NOT_TRANSLATED +HP:0001338 Partial agenesis of corpus callosum NOT_TRANSLATED +HP:0001338 Partial corpus callosum agenesis NOT_TRANSLATED +HP:0001338 Partial or complete agenesis of corpus callosum NOT_TRANSLATED +HP:0001338 Partial or complete agenesis of the corpus callosum NOT_TRANSLATED +HP:0001338 Partial to complete agenesis of corpus callosum NOT_TRANSLATED +HP:0001338 Partial-total agenesis of corpus callosum NOT_TRANSLATED +HP:0001339 Fewer or absent grooves in brain NOT_TRANSLATED +HP:0001341 Olfactory lobe absence NOT_TRANSLATED +HP:0001342 Bleeding in brain NOT_TRANSLATED +HP:0001342 Cerebral haemorrhage NOT_TRANSLATED +HP:0001342 Hemorrhagic stroke NOT_TRANSLATED +HP:0001342 Intracerebral haemorrhage NOT_TRANSLATED +HP:0001342 Intracerebral hemorrhage NOT_TRANSLATED +HP:0001344 Absent speech development NOT_TRANSLATED +HP:0001344 Lack of language development NOT_TRANSLATED +HP:0001344 Lack of speech NOT_TRANSLATED +HP:0001344 No speech development NOT_TRANSLATED +HP:0001344 No speech or language development NOT_TRANSLATED +HP:0001344 Nonverbal NOT_TRANSLATED +HP:0001347 Increased deep tendon reflexes NOT_TRANSLATED +HP:0001347 Increased reflexes NOT_TRANSLATED +HP:0001348 Brisk deep tendon reflexes NOT_TRANSLATED +HP:0001349 Bilateral facial weakness NOT_TRANSLATED +HP:0001349 Facial paresis, bilateral NOT_TRANSLATED +HP:0001355 Enlarged brain NOT_TRANSLATED +HP:0001355 Macrencephaly NOT_TRANSLATED +HP:0001357 Asymmetry of the posterior cranium NOT_TRANSLATED +HP:0001357 Asymmetry of the posterior head NOT_TRANSLATED +HP:0001357 Asymmetry of the posterior skull NOT_TRANSLATED +HP:0001357 Deformational plagiocephaly NOT_TRANSLATED +HP:0001357 Flat head NOT_TRANSLATED +HP:0001357 Flat head syndrome NOT_TRANSLATED +HP:0001357 Flattening of cranial vault NOT_TRANSLATED +HP:0001357 Flattening of cranium NOT_TRANSLATED +HP:0001357 Flattening of head NOT_TRANSLATED +HP:0001357 Flattening of skull NOT_TRANSLATED +HP:0001357 Positional plagiocephaly NOT_TRANSLATED +HP:0001357 Rhomboid shaped cranium NOT_TRANSLATED +HP:0001357 Rhomboid shaped head NOT_TRANSLATED +HP:0001357 Rhomboid shaped skull NOT_TRANSLATED +HP:0001360 Single brain ventricle NOT_TRANSLATED +HP:0001362 Calvarial defect NOT_TRANSLATED +HP:0001362 Cranial defect NOT_TRANSLATED +HP:0001362 Skull defect NOT_TRANSLATED +HP:0001363 Cranial suture synostosis NOT_TRANSLATED +HP:0001363 Craniostenosis NOT_TRANSLATED +HP:0001363 Craniosyostosis NOT_TRANSLATED +HP:0001363 Deformity of the skull NOT_TRANSLATED +HP:0001363 Early fusion of cranial sutures NOT_TRANSLATED +HP:0001363 Premature closure of cranial sutures NOT_TRANSLATED +HP:0001363 Premature fontanel closure NOT_TRANSLATED +HP:0001363 Premature suture closure NOT_TRANSLATED +HP:0001367 Abnormal shape of joints NOT_TRANSLATED +HP:0001367 Abnormality of the joints NOT_TRANSLATED +HP:0001367 Anomaly of the joints NOT_TRANSLATED +HP:0001367 Joint disease NOT_TRANSLATED +HP:0001369 Joint inflammation NOT_TRANSLATED +HP:0001370 RA NOT_TRANSLATED +HP:0001371 Flexed joint that cannot be straightened NOT_TRANSLATED +HP:0001371 Flexion contractures NOT_TRANSLATED +HP:0001371 Flexion contractures of joints NOT_TRANSLATED +HP:0001373 Joint dislocations NOT_TRANSLATED +HP:0001374 Congenital dislocation of the hip NOT_TRANSLATED +HP:0001374 Congenital dislocation of the hips NOT_TRANSLATED +HP:0001374 Congenital hip anomaly NOT_TRANSLATED +HP:0001374 Congenital hip dislocations NOT_TRANSLATED +HP:0001374 Dislocated hip since birth NOT_TRANSLATED +HP:0001376 Decreased joint mobility NOT_TRANSLATED +HP:0001376 Decreased mobility of joints NOT_TRANSLATED +HP:0001376 Limited joint mobility NOT_TRANSLATED +HP:0001376 Limited joint motion NOT_TRANSLATED +HP:0001377 Decreased elbow extension NOT_TRANSLATED +HP:0001377 Elbow limited extension NOT_TRANSLATED +HP:0001377 Limitation of elbow extension NOT_TRANSLATED +HP:0001377 Limited extension at elbows NOT_TRANSLATED +HP:0001377 Limited forearm extension NOT_TRANSLATED +HP:0001377 Restricted elbow extension NOT_TRANSLATED +HP:0001382 Double-Jointed NOT_TRANSLATED +HP:0001382 Extensible joints NOT_TRANSLATED +HP:0001382 Flexible joints NOT_TRANSLATED +HP:0001382 Hyperextensible joints NOT_TRANSLATED +HP:0001382 Increased joint mobility NOT_TRANSLATED +HP:0001382 Increased mobility of joints NOT_TRANSLATED +HP:0001382 Joint hyperextensibility NOT_TRANSLATED +HP:0001384 Abnormality of the hip joint NOT_TRANSLATED +HP:0001384 Abnormality of the hip joints NOT_TRANSLATED +HP:0001385 Abnormal formation of the hip NOT_TRANSLATED +HP:0001385 Congenital hip dysplasia NOT_TRANSLATED +HP:0001387 Stiff joint NOT_TRANSLATED +HP:0001387 Stiff joints NOT_TRANSLATED +HP:0001388 Hyperlaxity NOT_TRANSLATED +HP:0001388 Joint instability NOT_TRANSLATED +HP:0001388 Joint ligamentous laxity NOT_TRANSLATED +HP:0001388 Lax joints NOT_TRANSLATED +HP:0001388 Ligamentous laxity NOT_TRANSLATED +HP:0001388 Loose-jointedness NOT_TRANSLATED +HP:0001388 Loosejointedness NOT_TRANSLATED +HP:0001392 Abnormal liver NOT_TRANSLATED +HP:0001392 Liver abnormality NOT_TRANSLATED +HP:0001392 Liver disease NOT_TRANSLATED +HP:0001394 Hepatic cirrhosis NOT_TRANSLATED +HP:0001394 Liver cirrhosis NOT_TRANSLATED +HP:0001394 Scar tissue replaces healthy tissue in the liver NOT_TRANSLATED +HP:0001395 Liver fibrosis NOT_TRANSLATED +HP:0001396 Slowed or blocked flow of bile from liver NOT_TRANSLATED +HP:0001397 Fatty infiltration of liver NOT_TRANSLATED +HP:0001397 Fatty liver NOT_TRANSLATED +HP:0001397 Liver steatosis NOT_TRANSLATED +HP:0001397 Steatosis NOT_TRANSLATED +HP:0001399 Liver failure NOT_TRANSLATED +HP:0001402 Increased hepatocellular carcinoma risk NOT_TRANSLATED +HP:0001402 Increased incidence of hepatocellular carcinoma NOT_TRANSLATED +HP:0001403 Macrovesicular steatosis NOT_TRANSLATED +HP:0001404 Death of liver cells NOT_TRANSLATED +HP:0001404 Hepatocellular loss NOT_TRANSLATED +HP:0001406 Impaired release of bile from liver NOT_TRANSLATED +HP:0001407 Liver cysts NOT_TRANSLATED +HP:0001408 Proliferation of bile canaliculi NOT_TRANSLATED +HP:0001410 Hepatopathy NOT_TRANSLATED +HP:0001410 Liver dysfunction NOT_TRANSLATED +HP:0001410 Liver dysfunction, mild NOT_TRANSLATED +HP:0001414 Microvesicular steatosis NOT_TRANSLATED +HP:0001417 X-linked NOT_TRANSLATED +HP:0001417 X-linked form NOT_TRANSLATED +HP:0001417 monoallelic_X_hemizygous NOT_TRANSLATED +HP:0001419 X-linked recessive NOT_TRANSLATED +HP:0001421 Abnormal hand muscles NOT_TRANSLATED +HP:0001423 X-linked dominant NOT_TRANSLATED +HP:0001426 Familial predisposition NOT_TRANSLATED +HP:0001427 Mitochondrial NOT_TRANSLATED +HP:0001427 mitochondrial NOT_TRANSLATED +HP:0001430 Abnormal calf muscles NOT_TRANSLATED +HP:0001430 Abnormality of calf musculature NOT_TRANSLATED +HP:0001433 Enlarged liver and spleen NOT_TRANSLATED +HP:0001435 Abnormality of shoulder musculature NOT_TRANSLATED +HP:0001436 Abnormal foot muscles NOT_TRANSLATED +HP:0001438 Abdomen abnormality NOT_TRANSLATED +HP:0001438 Abnormality of abdomen morphology NOT_TRANSLATED +HP:0001438 Abnormality of abdomen structure NOT_TRANSLATED +HP:0001438 Abnormality of the abdomen NOT_TRANSLATED +HP:0001440 Fusion of metatarsals NOT_TRANSLATED +HP:0001440 Fusion of the long bones of the feet NOT_TRANSLATED +HP:0001440 Synostosis involving metatarsal bones NOT_TRANSLATED +HP:0001441 Abnormal thigh muscles NOT_TRANSLATED +HP:0001443 Abnormality of glutes NOT_TRANSLATED +HP:0001446 Abnormal upper limb muscles NOT_TRANSLATED +HP:0001449 Duplication of long bones of foot NOT_TRANSLATED +HP:0001450 Y-linked NOT_TRANSLATED +HP:0001450 monoallelic_Y_hemizygous NOT_TRANSLATED +HP:0001459 Webbed 1st-3rd toes NOT_TRANSLATED +HP:0001460 Absent/small skeletal muscles NOT_TRANSLATED +HP:0001460 Absent/underdeveloped skeletal muscles NOT_TRANSLATED +HP:0001464 Absent/small shoulder muscles NOT_TRANSLATED +HP:0001464 Absent/underdeveloped shoulder muscles NOT_TRANSLATED +HP:0001465 Shoulder muscle degeneration NOT_TRANSLATED +HP:0001465 Wasting of shoulder muscles NOT_TRANSLATED +HP:0001467 Absent/small upper limb muscles NOT_TRANSLATED +HP:0001467 Absent/underdeveloped upper limb muscles NOT_TRANSLATED +HP:0001468 Absent/small upper arm muscles NOT_TRANSLATED +HP:0001468 Absent/underdeveloped upper arm muscles NOT_TRANSLATED +HP:0001469 Abnormality of the musculature of the pelvis NOT_TRANSLATED +HP:0001471 Absent/small pelvis muscles NOT_TRANSLATED +HP:0001471 Absent/underdeveloped pelvis muscles NOT_TRANSLATED +HP:0001473 Osteolysis involving metatarsal bones NOT_TRANSLATED +HP:0001476 Delayed closure anterior fontanel NOT_TRANSLATED +HP:0001476 Delayed closure of anterior fontanelle NOT_TRANSLATED +HP:0001476 Delayed closure of the bregma sutures NOT_TRANSLATED +HP:0001476 Delayed closure of the soft spot on the skull NOT_TRANSLATED +HP:0001476 Late closure of anterior fontanelle NOT_TRANSLATED +HP:0001476 Late closure of large anterior fontanel NOT_TRANSLATED +HP:0001476 Late closure of soft spot on the skull NOT_TRANSLATED +HP:0001476 Late closure of the bregma sutures NOT_TRANSLATED +HP:0001476 Later than typical closing of soft spot of skull NOT_TRANSLATED +HP:0001476 Persistent anterior fontanelle NOT_TRANSLATED +HP:0001477 Compensatory head tilt/chin elevation NOT_TRANSLATED +HP:0001482 Firm lump under the skin NOT_TRANSLATED +HP:0001482 Growth of abnormal tissue under the skin NOT_TRANSLATED +HP:0001482 Multiple, subcutaneous nodules NOT_TRANSLATED +HP:0001482 Nodule below the skin NOT_TRANSLATED +HP:0001482 Subcutaneous nodules NOT_TRANSLATED +HP:0001483 Ocular auto-stimulation NOT_TRANSLATED +HP:0001483 Oculodigital phenomenon NOT_TRANSLATED +HP:0001488 Drooping of both upper eyelids NOT_TRANSLATED +HP:0001489 Vitreous detachment NOT_TRANSLATED +HP:0001491 CFEOM NOT_TRANSLATED +HP:0001491 Congenital fibrosis of the extraocular muscles NOT_TRANSLATED +HP:0001491 Congenital ophthalmoplegia NOT_TRANSLATED +HP:0001493 Congenital retinal fold NOT_TRANSLATED +HP:0001495 Carpal bone osteolysis NOT_TRANSLATED +HP:0001498 Hypoplasia of carpal bones NOT_TRANSLATED +HP:0001498 Hypoplastic carpal bones NOT_TRANSLATED +HP:0001498 Small carpal bones NOT_TRANSLATED +HP:0001498 Small carpals NOT_TRANSLATED +HP:0001498 Small wrist bones NOT_TRANSLATED +HP:0001500 Broad fingers NOT_TRANSLATED +HP:0001500 Wide fingers NOT_TRANSLATED +HP:0001501 6 long bones of hand NOT_TRANSLATED +HP:0001504 Metacarpals osteolysis NOT_TRANSLATED +HP:0001507 Abnormal growth NOT_TRANSLATED +HP:0001507 Growth issue NOT_TRANSLATED +HP:0001508 Faltering weight NOT_TRANSLATED +HP:0001508 Poor weight gain NOT_TRANSLATED +HP:0001508 Postnatal failure to thrive NOT_TRANSLATED +HP:0001508 Undergrowth NOT_TRANSLATED +HP:0001508 Weight faltering NOT_TRANSLATED +HP:0001510 Delayed growth NOT_TRANSLATED +HP:0001510 Growth deficiency NOT_TRANSLATED +HP:0001510 Growth failure NOT_TRANSLATED +HP:0001510 Growth retardation NOT_TRANSLATED +HP:0001510 Poor growth NOT_TRANSLATED +HP:0001510 Retarded growth NOT_TRANSLATED +HP:0001510 Very poor growth NOT_TRANSLATED +HP:0001511 IUGR NOT_TRANSLATED +HP:0001511 In utero growth retardation NOT_TRANSLATED +HP:0001511 Intrauterine growth failure NOT_TRANSLATED +HP:0001511 Intrauterine growth restriction NOT_TRANSLATED +HP:0001511 Intrauterine growth retardation, IUGR NOT_TRANSLATED +HP:0001511 Intrauterine retardation NOT_TRANSLATED +HP:0001511 Prenatal growth deficiency NOT_TRANSLATED +HP:0001511 Prenatal growth failure NOT_TRANSLATED +HP:0001511 Prenatal growth retardation NOT_TRANSLATED +HP:0001511 Prenatal onset growth retardation NOT_TRANSLATED +HP:0001511 Prenatal-onset growth retardation NOT_TRANSLATED +HP:0001511 Small for gestational age infant NOT_TRANSLATED +HP:0001513 Having too much body fat NOT_TRANSLATED +HP:0001518 Birth weight less than 10th percentile NOT_TRANSLATED +HP:0001518 Low birth weight NOT_TRANSLATED +HP:0001519 Dolichostenomelia NOT_TRANSLATED +HP:0001519 Marfanoid body habitus NOT_TRANSLATED +HP:0001519 Marfanoid habitus NOT_TRANSLATED +HP:0001519 Reduced upper-lower segment ratio NOT_TRANSLATED +HP:0001520 Birth weight > 90th percentile NOT_TRANSLATED +HP:0001520 Birthweight > 90th percentile NOT_TRANSLATED +HP:0001520 Fetal macrosomia NOT_TRANSLATED +HP:0001520 Foetal macrosomia NOT_TRANSLATED +HP:0001520 Macrosomia NOT_TRANSLATED +HP:0001520 Macrosomia, neonatal NOT_TRANSLATED +HP:0001522 Death in early childhood NOT_TRANSLATED +HP:0001522 Infantile death NOT_TRANSLATED +HP:0001522 Lethal in infancy NOT_TRANSLATED +HP:0001525 Marked failure to thrive NOT_TRANSLATED +HP:0001525 Severe faltering weight NOT_TRANSLATED +HP:0001525 Severe postnatal failure to thrive NOT_TRANSLATED +HP:0001525 Severe weight faltering NOT_TRANSLATED +HP:0001528 Asymmetric limb hypertrophy NOT_TRANSLATED +HP:0001528 Asymmetric overgrowth NOT_TRANSLATED +HP:0001530 Mild growth deficiency NOT_TRANSLATED +HP:0001530 Postnatal onset of mild growth retardation NOT_TRANSLATED +HP:0001531 Failure to thrive in first year of life NOT_TRANSLATED +HP:0001531 Faltering weight in infancy NOT_TRANSLATED +HP:0001531 Weight faltering in infancy NOT_TRANSLATED +HP:0001533 Asthenic habitus NOT_TRANSLATED +HP:0001533 Thin body habitus NOT_TRANSLATED +HP:0001533 Thin build NOT_TRANSLATED +HP:0001537 Umbilical hernias NOT_TRANSLATED +HP:0001538 Abdominal protuberance NOT_TRANSLATED +HP:0001538 Belly sticks out NOT_TRANSLATED +HP:0001538 Extended belly NOT_TRANSLATED +HP:0001539 Exomphalos NOT_TRANSLATED +HP:0001539 Omphalocoele NOT_TRANSLATED +HP:0001540 Gap between large left and right abdominal muscles NOT_TRANSLATED +HP:0001541 Accumulation of fluid in the abdomen NOT_TRANSLATED +HP:0001544 Prominent belly button NOT_TRANSLATED +HP:0001544 Prominent navel NOT_TRANSLATED +HP:0001545 Anteriorly displaced anus NOT_TRANSLATED +HP:0001545 Anus anteposition NOT_TRANSLATED +HP:0001547 Abnormality of the rib cage NOT_TRANSLATED +HP:0001548 General overgrowth NOT_TRANSLATED +HP:0001548 Generalised overgrowth NOT_TRANSLATED +HP:0001548 Generalized overgrowth NOT_TRANSLATED +HP:0001549 Abnormality of the ileum NOT_TRANSLATED +HP:0001551 Abnormal belly button NOT_TRANSLATED +HP:0001551 Abnormal navel NOT_TRANSLATED +HP:0001551 Abnormal umbilicus NOT_TRANSLATED +HP:0001552 Barrel chest NOT_TRANSLATED +HP:0001555 Asymmetric chest NOT_TRANSLATED +HP:0001557 Abnormal intrauterine movements NOT_TRANSLATED +HP:0001558 Decreased fetal activity NOT_TRANSLATED +HP:0001558 Decreased fetal movements NOT_TRANSLATED +HP:0001558 Decreased foetal activity NOT_TRANSLATED +HP:0001558 Decreased foetal movement NOT_TRANSLATED +HP:0001558 Decreased foetal movements NOT_TRANSLATED +HP:0001558 Decreased movement in utero NOT_TRANSLATED +HP:0001558 Dminished fetal movement NOT_TRANSLATED +HP:0001558 Fetal hypokinesia NOT_TRANSLATED +HP:0001558 Foetal hypokinesia NOT_TRANSLATED +HP:0001558 Less than 10 fetal movements in 12 hours NOT_TRANSLATED +HP:0001558 Less than 10 foetal movements in 12 hours NOT_TRANSLATED +HP:0001558 Reduced fetal movement NOT_TRANSLATED +HP:0001558 Reduced fetal movements NOT_TRANSLATED +HP:0001558 Reduced foetal movement NOT_TRANSLATED +HP:0001558 Reduced foetal movements NOT_TRANSLATED +HP:0001560 Abnormal amniotic fluid NOT_TRANSLATED +HP:0001561 High levels of amniotic fluid NOT_TRANSLATED +HP:0001561 Hydramnios NOT_TRANSLATED +HP:0001561 Increased amniotic fluid index NOT_TRANSLATED +HP:0001562 Decreased amniotic fluid index NOT_TRANSLATED +HP:0001562 Low levels of amniotic fluid NOT_TRANSLATED +HP:0001562 Maternal oligohydramnios NOT_TRANSLATED +HP:0001563 Foetal polyuria NOT_TRANSLATED +HP:0001566 Central incisor gap NOT_TRANSLATED +HP:0001566 Diastasis of the central incisors NOT_TRANSLATED +HP:0001566 Diastema between maxillary central incisors NOT_TRANSLATED +HP:0001566 Diastema between upper front teeth NOT_TRANSLATED +HP:0001566 Diastema between upper incisors NOT_TRANSLATED +HP:0001566 Gap between upper front teeth NOT_TRANSLATED +HP:0001566 Separated superior central incisors NOT_TRANSLATED +HP:0001566 Wide gap between upper central incisors NOT_TRANSLATED +HP:0001566 Wide upper central incisors NOT_TRANSLATED +HP:0001566 Widely spaced upper incisors NOT_TRANSLATED +HP:0001571 Impacted teeth NOT_TRANSLATED +HP:0001571 Multiple buried teeth NOT_TRANSLATED +HP:0001571 Multiple retained teeth NOT_TRANSLATED +HP:0001572 Hyperplasia of tooth NOT_TRANSLATED +HP:0001572 Hypertrophy of tooth NOT_TRANSLATED +HP:0001572 Increased size of tooth NOT_TRANSLATED +HP:0001572 Increased width of tooth NOT_TRANSLATED +HP:0001572 Large tooth NOT_TRANSLATED +HP:0001572 Megalodontia NOT_TRANSLATED +HP:0001572 Tooth mass excess NOT_TRANSLATED +HP:0001579 ACTH-independent hypercortisolemia NOT_TRANSLATED +HP:0001581 Cutaneous infections NOT_TRANSLATED +HP:0001581 Skin infections, recurrent NOT_TRANSLATED +HP:0001582 Loose redundant skin NOT_TRANSLATED +HP:0001582 Redundant skin folds NOT_TRANSLATED +HP:0001582 Sagging, redundant skin NOT_TRANSLATED +HP:0001583 Rotatory Nystagmus NOT_TRANSLATED +HP:0001591 Bell-shaped chest NOT_TRANSLATED +HP:0001591 Constricted, bell-shaped thorax NOT_TRANSLATED +HP:0001591 Narrow, bell-shaped thorax NOT_TRANSLATED +HP:0001592 Absence of a tooth NOT_TRANSLATED +HP:0001592 Agenesis of a tooth NOT_TRANSLATED +HP:0001592 Failure of development of a tooth NOT_TRANSLATED +HP:0001592 Missing a tooth NOT_TRANSLATED +HP:0001593 Decreased size of maxillary lateral incisor NOT_TRANSLATED +HP:0001593 Decreased size of upper lateral incisor NOT_TRANSLATED +HP:0001593 Decreased width of upper lateral incisor NOT_TRANSLATED +HP:0001593 Hypotrophic maxillary lateral incisor NOT_TRANSLATED +HP:0001593 Hypotrophic upper lateral incisor NOT_TRANSLATED +HP:0001593 Small maxillary lateral incisor NOT_TRANSLATED +HP:0001593 Small upper lateral incisor NOT_TRANSLATED +HP:0001595 Abnormality of the hair NOT_TRANSLATED +HP:0001595 Abnormality of the hair shaft NOT_TRANSLATED +HP:0001595 Hair abnormality NOT_TRANSLATED +HP:0001596 Hair loss NOT_TRANSLATED +HP:0001597 Nail disease NOT_TRANSLATED +HP:0001598 Koilonychia NOT_TRANSLATED +HP:0001598 Spoon-shaped nails NOT_TRANSLATED +HP:0001600 Laryngeal abnormalities NOT_TRANSLATED +HP:0001600 Laryngeal anomalies NOT_TRANSLATED +HP:0001601 Softening of voice box tissue NOT_TRANSLATED +HP:0001604 Hoarse voice due to vocal cord paresis NOT_TRANSLATED +HP:0001604 Vocal cord paresis in severe cases NOT_TRANSLATED +HP:0001604 Weakness of the vocal cords NOT_TRANSLATED +HP:0001605 Inability to move vocal cords NOT_TRANSLATED +HP:0001605 Laryngeal paralysis NOT_TRANSLATED +HP:0001608 Voice abnormality NOT_TRANSLATED +HP:0001609 Hoarseness NOT_TRANSLATED +HP:0001609 Husky voice NOT_TRANSLATED +HP:0001611 Hypernasal speech NOT_TRANSLATED +HP:0001611 Hypernasal voice NOT_TRANSLATED +HP:0001611 Nasal voice NOT_TRANSLATED +HP:0001618 Inability to produce voice sounds NOT_TRANSLATED +HP:0001618 Voice change NOT_TRANSLATED +HP:0001620 High-pitched voice NOT_TRANSLATED +HP:0001621 Hypophonia NOT_TRANSLATED +HP:0001621 Quiet voice NOT_TRANSLATED +HP:0001621 Soft voice NOT_TRANSLATED +HP:0001622 Premature delivery NOT_TRANSLATED +HP:0001622 Premature delivery of affected infants NOT_TRANSLATED +HP:0001622 Preterm birth NOT_TRANSLATED +HP:0001622 Preterm delivery NOT_TRANSLATED +HP:0001622 Shortened gestation time NOT_TRANSLATED +HP:0001623 Breech presentation at birth NOT_TRANSLATED +HP:0001623 Feet or buttocks of fetus positioned near opening of uterus NOT_TRANSLATED +HP:0001623 Feet or buttocks of foetus positioned near opening of uterus NOT_TRANSLATED +HP:0001626 Cardiovascular abnormality NOT_TRANSLATED +HP:0001626 Cardiovascular disease NOT_TRANSLATED +HP:0001627 Abnormality of cardiac morphology NOT_TRANSLATED +HP:0001627 Abnormality of the heart NOT_TRANSLATED +HP:0001627 Abnormally shaped heart NOT_TRANSLATED +HP:0001627 Cardiac abnormality NOT_TRANSLATED +HP:0001627 Cardiac anomalies NOT_TRANSLATED +HP:0001627 Cardiac anomaly NOT_TRANSLATED +HP:0001627 Congenital heart defect NOT_TRANSLATED +HP:0001627 Congenital heart defects NOT_TRANSLATED +HP:0001627 Heart defect NOT_TRANSLATED +HP:0001629 Hole in heart wall separating two lower heart chambers NOT_TRANSLATED +HP:0001629 VSD NOT_TRANSLATED +HP:0001629 Ventricular septal defects NOT_TRANSLATED +HP:0001629 Ventriculoseptal defect NOT_TRANSLATED +HP:0001631 ASD NOT_TRANSLATED +HP:0001631 An opening in the wall separating the top two chambers of the heart NOT_TRANSLATED +HP:0001631 Atria septal defect NOT_TRANSLATED +HP:0001631 Atrial septum defect NOT_TRANSLATED +HP:0001631 Atrioseptal defect NOT_TRANSLATED +HP:0001631 Defect in the atrial septum NOT_TRANSLATED +HP:0001631 Hole in heart wall separating two upper heart chambers NOT_TRANSLATED +HP:0001633 Abnormality of the mitral valve NOT_TRANSLATED +HP:0001635 CHF NOT_TRANSLATED +HP:0001635 Cardiac failure NOT_TRANSLATED +HP:0001635 Cardiac failures NOT_TRANSLATED +HP:0001635 Cardiac insufficiency NOT_TRANSLATED +HP:0001635 Chronic heart failure NOT_TRANSLATED +HP:0001635 Heart failure NOT_TRANSLATED +HP:0001636 Tetrology of fallot NOT_TRANSLATED +HP:0001637 Abnormality of the myocardium NOT_TRANSLATED +HP:0001638 Disease of the heart muscle NOT_TRANSLATED +HP:0001639 Cardiomyopathy, hypertrophic NOT_TRANSLATED +HP:0001639 Enlarged and thickened heart muscle NOT_TRANSLATED +HP:0001639 HCM NOT_TRANSLATED +HP:0001640 Enlarged heart NOT_TRANSLATED +HP:0001640 Increased heart size NOT_TRANSLATED +HP:0001641 Abnormality of the pulmonary valve NOT_TRANSLATED +HP:0001641 Anomaly of the pulmonary valve NOT_TRANSLATED +HP:0001642 Narrowing of pulmonic valve NOT_TRANSLATED +HP:0001642 Pulmonary stenosis NOT_TRANSLATED +HP:0001642 Pulmonary valve stenosis NOT_TRANSLATED +HP:0001642 Pulmonic valve stenosis NOT_TRANSLATED +HP:0001643 Ductus arteriosus NOT_TRANSLATED +HP:0001643 PDA NOT_TRANSLATED +HP:0001643 Patent ductus Botalli NOT_TRANSLATED +HP:0001643 Persistent arterial duct NOT_TRANSLATED +HP:0001643 Persistent ductus arteriosus NOT_TRANSLATED +HP:0001644 Cardiomyopathy, dilated NOT_TRANSLATED +HP:0001644 Congestive cardiomyopathy NOT_TRANSLATED +HP:0001644 DCM NOT_TRANSLATED +HP:0001644 Stretched and thinned heart muscle NOT_TRANSLATED +HP:0001645 Premature sudden cardiac death NOT_TRANSLATED +HP:0001646 Abnormality of the aortic valve NOT_TRANSLATED +HP:0001647 Aortic valve has two leaflets rather than three NOT_TRANSLATED +HP:0001649 Elevated heart rate NOT_TRANSLATED +HP:0001649 Fast heart rate NOT_TRANSLATED +HP:0001649 Heart racing NOT_TRANSLATED +HP:0001649 Increased heart rate NOT_TRANSLATED +HP:0001649 Racing heart NOT_TRANSLATED +HP:0001649 Rapid heart beat NOT_TRANSLATED +HP:0001650 Aortic stenosis NOT_TRANSLATED +HP:0001650 Narrowing of aortic valve NOT_TRANSLATED +HP:0001650 Valvular aortic stenosis NOT_TRANSLATED +HP:0001651 Heart tip and four chambers point towards right side of body NOT_TRANSLATED +HP:0001651 Thoracic situs inversus NOT_TRANSLATED +HP:0001653 Mitral incompetence NOT_TRANSLATED +HP:0001653 Mitral insufficiency NOT_TRANSLATED +HP:0001653 Mitral regurgitation, mild NOT_TRANSLATED +HP:0001653 Mitral valve insufficiency NOT_TRANSLATED +HP:0001653 Mitral valve regurgitation NOT_TRANSLATED +HP:0001654 Abnormality of the heart valves NOT_TRANSLATED +HP:0001654 Valvular abnormality NOT_TRANSLATED +HP:0001654 Valvular heart disease NOT_TRANSLATED +HP:0001655 Persistent foramen ovale NOT_TRANSLATED +HP:0001657 Long Q-T syndrome NOT_TRANSLATED +HP:0001657 Long QT syndrome NOT_TRANSLATED +HP:0001657 Prolong qt interval on ekg NOT_TRANSLATED +HP:0001658 Heart attack NOT_TRANSLATED +HP:0001658 MI NOT_TRANSLATED +HP:0001659 Aortic insufficiency NOT_TRANSLATED +HP:0001659 Aortic valve regurgitation NOT_TRANSLATED +HP:0001660 Common arterial trunk NOT_TRANSLATED +HP:0001660 Persistant truncus arteriosus NOT_TRANSLATED +HP:0001662 Brachycardia NOT_TRANSLATED +HP:0001662 Slow heartbeats NOT_TRANSLATED +HP:0001664 Torsades de pointes NOT_TRANSLATED +HP:0001667 Heart right ventricle hypertrophy NOT_TRANSLATED +HP:0001669 Transposition of great vessels NOT_TRANSLATED +HP:0001671 Abnormality of the cardiac septa NOT_TRANSLATED +HP:0001671 Heart septal defect NOT_TRANSLATED +HP:0001671 Septal defects NOT_TRANSLATED +HP:0001674 Atrioventricular canal NOT_TRANSLATED +HP:0001674 Common atrioventricular canal NOT_TRANSLATED +HP:0001674 Complete atrioventricular septal defect NOT_TRANSLATED +HP:0001674 Complete common AV canal NOT_TRANSLATED +HP:0001677 Coronary atherosclerosis NOT_TRANSLATED +HP:0001677 Coronary disease NOT_TRANSLATED +HP:0001677 Plaque build-up in arteries supplying blood to heart NOT_TRANSLATED +HP:0001678 Atrioventricular nodal disease NOT_TRANSLATED +HP:0001678 Interruption of electrical communication between upper and lower chambers of heart NOT_TRANSLATED +HP:0001679 Abnormal aorta morphology NOT_TRANSLATED +HP:0001679 Abnormality of the aorta NOT_TRANSLATED +HP:0001680 Aortic coarctation NOT_TRANSLATED +HP:0001680 Coarctation of the aorta NOT_TRANSLATED +HP:0001680 Narrowing of aorta NOT_TRANSLATED +HP:0001680 Narrowing of the aorta NOT_TRANSLATED +HP:0001682 Narrowing of blood vessel below aortic heart valve NOT_TRANSLATED +HP:0001682 Subaortic stenosis NOT_TRANSLATED +HP:0001684 Atrial septal defect, ostium secundum type NOT_TRANSLATED +HP:0001684 Ostium secundum atrial septal defect NOT_TRANSLATED +HP:0001684 Patent ostium secundum NOT_TRANSLATED +HP:0001686 Aphonia NOT_TRANSLATED +HP:0001691 Muscular subaortic stenosis NOT_TRANSLATED +HP:0001692 Primary atrial arrhythmia NOT_TRANSLATED +HP:0001695 Heart stops beating NOT_TRANSLATED +HP:0001696 All organs on wrong side of body NOT_TRANSLATED +HP:0001696 Situs inversus NOT_TRANSLATED +HP:0001696 situs oppositus NOT_TRANSLATED +HP:0001696 situs transversus NOT_TRANSLATED +HP:0001697 Abnormality of the pericardium NOT_TRANSLATED +HP:0001698 Fluid around heart NOT_TRANSLATED +HP:0001698 Pericardial effusions NOT_TRANSLATED +HP:0001701 Swelling or irritation of membrane around heart NOT_TRANSLATED +HP:0001702 Abnormality of the tricuspid valve NOT_TRANSLATED +HP:0001705 Right ventricular outlet obstruction NOT_TRANSLATED +HP:0001707 Abnormality of the right ventricle NOT_TRANSLATED +HP:0001707 Right ventricular abnormality NOT_TRANSLATED +HP:0001708 Impaired right ventricular function NOT_TRANSLATED +HP:0001708 Right ventricular impairment NOT_TRANSLATED +HP:0001708 Right-sided heart failure NOT_TRANSLATED +HP:0001709 Complete heart block NOT_TRANSLATED +HP:0001709 Third-degree heart block NOT_TRANSLATED +HP:0001710 Conotruncal heart defects NOT_TRANSLATED +HP:0001711 Abnormal heart left ventricle morphology NOT_TRANSLATED +HP:0001711 Abnormality of the left ventricle NOT_TRANSLATED +HP:0001711 Left ventricular abnormality NOT_TRANSLATED +HP:0001712 Heart left ventricle hypertrophy NOT_TRANSLATED +HP:0001712 Left ventricular wall hypertrophy NOT_TRANSLATED +HP:0001713 Abnormality of cardiac ventricle NOT_TRANSLATED +HP:0001718 Mitral valve stenosis NOT_TRANSLATED +HP:0001719 DORV NOT_TRANSLATED +HP:0001719 Double-outlet right ventricle NOT_TRANSLATED +HP:0001730 Progressive hearing loss NOT_TRANSLATED +HP:0001732 Pancreatic disease NOT_TRANSLATED +HP:0001733 Pancreatic inflammation NOT_TRANSLATED +HP:0001735 Acute pancreatic inflammation NOT_TRANSLATED +HP:0001735 Pancreatitis, acute NOT_TRANSLATED +HP:0001737 Multiple pancreatic cysts NOT_TRANSLATED +HP:0001737 Pancreatic cyst NOT_TRANSLATED +HP:0001738 Inability to properly digest food due to lack of pancreatic digestive enzymes NOT_TRANSLATED +HP:0001738 Pancreatic insufficiency NOT_TRANSLATED +HP:0001739 Abnormality of the nasopharynx NOT_TRANSLATED +HP:0001742 Blockage of nose NOT_TRANSLATED +HP:0001742 Congestion of nose NOT_TRANSLATED +HP:0001742 Nasal blockage NOT_TRANSLATED +HP:0001742 Nasal obstruction NOT_TRANSLATED +HP:0001742 Obstruction of nose NOT_TRANSLATED +HP:0001742 Stuffy nose NOT_TRANSLATED +HP:0001744 Increased spleen size NOT_TRANSLATED +HP:0001746 Absent spleen NOT_TRANSLATED +HP:0001748 Accessory spleens NOT_TRANSLATED +HP:0001748 Multiple accessory spleens NOT_TRANSLATED +HP:0001748 Multiple small spleens NOT_TRANSLATED +HP:0001750 Common ventricle NOT_TRANSLATED +HP:0001751 Impaired vestibular function NOT_TRANSLATED +HP:0001751 Interictal vestibular dysfunction NOT_TRANSLATED +HP:0001751 Vestibular function defect NOT_TRANSLATED +HP:0001757 High frequency sensorineural hearing impairment NOT_TRANSLATED +HP:0001757 High-tone sensorineural deafness NOT_TRANSLATED +HP:0001757 High-tone sensorineural hearing impairment NOT_TRANSLATED +HP:0001760 Abnormal feet structure NOT_TRANSLATED +HP:0001760 Abnormality of the feet NOT_TRANSLATED +HP:0001760 Abnormality of the foot NOT_TRANSLATED +HP:0001760 Foot deformities NOT_TRANSLATED +HP:0001760 Foot deformity NOT_TRANSLATED +HP:0001761 High-arched foot NOT_TRANSLATED +HP:0001762 Club feet NOT_TRANSLATED +HP:0001762 Club foot NOT_TRANSLATED +HP:0001762 Clubbing of feet NOT_TRANSLATED +HP:0001762 Clubfeet NOT_TRANSLATED +HP:0001762 Clubfoot NOT_TRANSLATED +HP:0001762 Equinovarus NOT_TRANSLATED +HP:0001762 Foot, talipes equinovarus NOT_TRANSLATED +HP:0001762 Pes equinovarus NOT_TRANSLATED +HP:0001762 Pes equinus NOT_TRANSLATED +HP:0001762 Talipes varus NOT_TRANSLATED +HP:0001763 Dropped arches NOT_TRANSLATED +HP:0001763 Fallen arches NOT_TRANSLATED +HP:0001763 Flat feet NOT_TRANSLATED +HP:0001763 Flat foot NOT_TRANSLATED +HP:0001765 Hammer toe NOT_TRANSLATED +HP:0001765 Hammertoes NOT_TRANSLATED +HP:0001769 Broad feet NOT_TRANSLATED +HP:0001769 Wide foot NOT_TRANSLATED +HP:0001770 Foot syndactyly NOT_TRANSLATED +HP:0001770 Fused toes NOT_TRANSLATED +HP:0001770 Syndactyly of feet NOT_TRANSLATED +HP:0001770 Syndactyly of toes NOT_TRANSLATED +HP:0001770 Webbed toes NOT_TRANSLATED +HP:0001771 Achilles tendon contractures NOT_TRANSLATED +HP:0001771 Contractures of the Achilles tendon NOT_TRANSLATED +HP:0001771 Shortening of the achilles tendon NOT_TRANSLATED +HP:0001771 Tight achilles tendon NOT_TRANSLATED +HP:0001772 Equinovalgus deformity NOT_TRANSLATED +HP:0001773 Hypoplastic feet NOT_TRANSLATED +HP:0001773 Short feet NOT_TRANSLATED +HP:0001773 Small feet NOT_TRANSLATED +HP:0001776 Bilateral clubfeet NOT_TRANSLATED +HP:0001776 Bilateral clubfoot NOT_TRANSLATED +HP:0001776 Club foot on both sides NOT_TRANSLATED +HP:0001780 Abnormalities of the toes NOT_TRANSLATED +HP:0001783 Broad metatarsals NOT_TRANSLATED +HP:0001783 Wide long bone of foot NOT_TRANSLATED +HP:0001783 Widened metatarsal shaft NOT_TRANSLATED +HP:0001786 Slender feet NOT_TRANSLATED +HP:0001787 Delivery complication NOT_TRANSLATED +HP:0001790 Hydrops fetalis, non-immune NOT_TRANSLATED +HP:0001790 Hydrops fetalis, nonimmune NOT_TRANSLATED +HP:0001790 Non-immune fetal hydrops NOT_TRANSLATED +HP:0001790 Non-immune foetal hydrops NOT_TRANSLATED +HP:0001790 Nonimmune hydrops NOT_TRANSLATED +HP:0001791 Foetal ascites NOT_TRANSLATED +HP:0001792 Hypoplastic nail NOT_TRANSLATED +HP:0001792 Hypoplastic nails NOT_TRANSLATED +HP:0001792 Nail hypoplasia NOT_TRANSLATED +HP:0001792 Small nails NOT_TRANSLATED +HP:0001795 Increased nail curvature NOT_TRANSLATED +HP:0001795 Nail overcurvature NOT_TRANSLATED +HP:0001798 Absent nails NOT_TRANSLATED +HP:0001798 Aplastic nails NOT_TRANSLATED +HP:0001799 Short nails NOT_TRANSLATED +HP:0001800 Underdeveloped toenails NOT_TRANSLATED +HP:0001802 Absent toenails NOT_TRANSLATED +HP:0001802 Absent toenails (anonychia) NOT_TRANSLATED +HP:0001802 Anonychia of toenails NOT_TRANSLATED +HP:0001803 Nail pitting NOT_TRANSLATED +HP:0001803 Pitted nails NOT_TRANSLATED +HP:0001804 Small fingernail NOT_TRANSLATED +HP:0001804 Underdeveloped fingernail NOT_TRANSLATED +HP:0001805 Dystrophic thickened nails NOT_TRANSLATED +HP:0001805 Thick nail NOT_TRANSLATED +HP:0001805 Thickened nails NOT_TRANSLATED +HP:0001806 Detachment of nail NOT_TRANSLATED +HP:0001806 Oncholysis NOT_TRANSLATED +HP:0001807 Grooved nails NOT_TRANSLATED +HP:0001807 Longitudinal ridging NOT_TRANSLATED +HP:0001807 Nail ridging NOT_TRANSLATED +HP:0001807 Ridged nails NOT_TRANSLATED +HP:0001808 Brittle nails NOT_TRANSLATED +HP:0001809 Longitudinal splitting of nail NOT_TRANSLATED +HP:0001810 Dystrophic toenail changes NOT_TRANSLATED +HP:0001810 Dystrophic toenails NOT_TRANSLATED +HP:0001810 Poor toenail formation NOT_TRANSLATED +HP:0001812 Tubular fingernails NOT_TRANSLATED +HP:0001816 Thin nails NOT_TRANSLATED +HP:0001817 Anonychia of fingernails NOT_TRANSLATED +HP:0001817 Aplasia of the fingernail NOT_TRANSLATED +HP:0001820 White discoloration of nails NOT_TRANSLATED +HP:0001821 Broad fingernails NOT_TRANSLATED +HP:0001821 Wide fingernails NOT_TRANSLATED +HP:0001822 Bunion NOT_TRANSLATED +HP:0001822 Lateral deviation of great toe NOT_TRANSLATED +HP:0001822 Lateral deviation of halluces NOT_TRANSLATED +HP:0001824 Loss of weight NOT_TRANSLATED +HP:0001829 Duplication of bones of the toes NOT_TRANSLATED +HP:0001829 Polydactyly of feet NOT_TRANSLATED +HP:0001829 Polydactyly of the foot NOT_TRANSLATED +HP:0001830 Extra toe attached near the little toe NOT_TRANSLATED +HP:0001830 Fibular polydactyly NOT_TRANSLATED +HP:0001830 Polydactyly affecting the 5th toe NOT_TRANSLATED +HP:0001830 Postaxial polydactyly of feet NOT_TRANSLATED +HP:0001830 Postaxial polydactyly of foot NOT_TRANSLATED +HP:0001830 Posterior polydactyly of foot NOT_TRANSLATED +HP:0001831 Brachydactyly of the foot NOT_TRANSLATED +HP:0001831 Hypoplasia of the toe NOT_TRANSLATED +HP:0001831 Hypoplastic toes NOT_TRANSLATED +HP:0001831 Short foot phalanges NOT_TRANSLATED +HP:0001831 Short toes NOT_TRANSLATED +HP:0001831 Stubby toes NOT_TRANSLATED +HP:0001832 Abnormality of the long bone of foot NOT_TRANSLATED +HP:0001833 Disproportionately large feet NOT_TRANSLATED +HP:0001833 large feet NOT_TRANSLATED +HP:0001833 long feet NOT_TRANSLATED +HP:0001836 Camptodactyly of feet NOT_TRANSLATED +HP:0001837 Wide toe NOT_TRANSLATED +HP:0001838 Congenital vertical talus NOT_TRANSLATED +HP:0001838 Rocker bottom feet NOT_TRANSLATED +HP:0001838 Rocker-bottom feet NOT_TRANSLATED +HP:0001838 Rockerbottom feet NOT_TRANSLATED +HP:0001839 Foot ectrodactyly NOT_TRANSLATED +HP:0001839 Lobster-claw foot deformity NOT_TRANSLATED +HP:0001839 Split-foot NOT_TRANSLATED +HP:0001840 Forefoot varus NOT_TRANSLATED +HP:0001840 Front half of foot turns inward NOT_TRANSLATED +HP:0001840 Intoe NOT_TRANSLATED +HP:0001840 Metatarsus adductovarsus NOT_TRANSLATED +HP:0001840 Metatarsus varus NOT_TRANSLATED +HP:0001841 Partial/complete duplication of the phalanges of the big toe NOT_TRANSLATED +HP:0001841 Polydactyly affecting the hallux NOT_TRANSLATED +HP:0001841 Preaxial hallucal polydactyly NOT_TRANSLATED +HP:0001841 Preaxial polydactyly of feet NOT_TRANSLATED +HP:0001841 Preaxial polydactyly of foot NOT_TRANSLATED +HP:0001841 Preaxial polydactyly of the feet NOT_TRANSLATED +HP:0001841 Preaxial polydactyly, feet NOT_TRANSLATED +HP:0001842 Acroosteolysis of feet NOT_TRANSLATED +HP:0001844 Abnormalities of the hallux NOT_TRANSLATED +HP:0001844 Abnormality of the big toe NOT_TRANSLATED +HP:0001845 Crossover toe NOT_TRANSLATED +HP:0001845 Overlapping toes NOT_TRANSLATED +HP:0001845 Overriding toes NOT_TRANSLATED +HP:0001847 Increased length of the hallux NOT_TRANSLATED +HP:0001847 Large halluces NOT_TRANSLATED +HP:0001847 Long big toe NOT_TRANSLATED +HP:0001847 Long halluces NOT_TRANSLATED +HP:0001848 Calcaneovalgus NOT_TRANSLATED +HP:0001848 Calcaneovalgus Foot NOT_TRANSLATED +HP:0001848 Foot and ankle bend up toward shin of leg NOT_TRANSLATED +HP:0001848 Valgus position of the calcaneus NOT_TRANSLATED +HP:0001849 Missing toes NOT_TRANSLATED +HP:0001849 Oligodactyly of feet NOT_TRANSLATED +HP:0001850 Abnormal ankle bones NOT_TRANSLATED +HP:0001850 Abnormal tarsals NOT_TRANSLATED +HP:0001852 Gap between 1st and 2nd toes NOT_TRANSLATED +HP:0001852 Gap between first and second toe NOT_TRANSLATED +HP:0001852 Increased space between first and second toes NOT_TRANSLATED +HP:0001852 Sandal gap between first and second toes NOT_TRANSLATED +HP:0001852 Space between great toe and second toe NOT_TRANSLATED +HP:0001852 Wide space between 1st, 2nd toes NOT_TRANSLATED +HP:0001852 Wide space between first and second toes NOT_TRANSLATED +HP:0001852 Wide-spaced big toe NOT_TRANSLATED +HP:0001852 Widely spaced 1st-2nd toes NOT_TRANSLATED +HP:0001852 Widely spaced first and second toes NOT_TRANSLATED +HP:0001852 Widened gap 1st-2nd toes NOT_TRANSLATED +HP:0001852 Widened gap first and second toe NOT_TRANSLATED +HP:0001853 Bifid distal phalanges of toes NOT_TRANSLATED +HP:0001853 Bifid terminal phalanx of toe NOT_TRANSLATED +HP:0001853 Notched outermost bones of toes NOT_TRANSLATED +HP:0001854 Gout of big toe NOT_TRANSLATED +HP:0001857 Hypoplastic distal phalanges of feet NOT_TRANSLATED +HP:0001857 Short outermost bone of toe NOT_TRANSLATED +HP:0001863 Clinodactyly of feet NOT_TRANSLATED +HP:0001863 Toe curvature NOT_TRANSLATED +HP:0001864 Curvature of the little toe NOT_TRANSLATED +HP:0001864 Curvature of the pinkie toe NOT_TRANSLATED +HP:0001864 Curvature of the pinky toe NOT_TRANSLATED +HP:0001869 Deep wrinkles in soles of feet NOT_TRANSLATED +HP:0001870 Acroosteolysis of distal phalanges of feet NOT_TRANSLATED +HP:0001871 Abnormality of the haematopoietic system NOT_TRANSLATED +HP:0001871 Abnormality of the hematopoietic system NOT_TRANSLATED +HP:0001871 Haematological abnormality NOT_TRANSLATED +HP:0001871 Hematologic disease NOT_TRANSLATED +HP:0001871 Hematological abnormality NOT_TRANSLATED +HP:0001872 Blood platelet disease NOT_TRANSLATED +HP:0001872 Platelet abnormalities NOT_TRANSLATED +HP:0001872 Thrombasthenia NOT_TRANSLATED +HP:0001873 Low platelet count NOT_TRANSLATED +HP:0001874 Abnormality of neutrophil NOT_TRANSLATED +HP:0001874 Abnormality of polymorphonuclear neutrophils NOT_TRANSLATED +HP:0001875 Low blood neutrophil count NOT_TRANSLATED +HP:0001875 Low neutrophil count NOT_TRANSLATED +HP:0001875 Neutropoenia NOT_TRANSLATED +HP:0001875 Peripheral neutropenia NOT_TRANSLATED +HP:0001876 Low blood cell count NOT_TRANSLATED +HP:0001876 Pancytopaenia NOT_TRANSLATED +HP:0001877 Abnormality of erythrocytes NOT_TRANSLATED +HP:0001877 Abnormality of erythroid lineage cell NOT_TRANSLATED +HP:0001877 Abnormality of red blood cells NOT_TRANSLATED +HP:0001878 Haemolytic anaemia NOT_TRANSLATED +HP:0001878 Hemolytic anaemia NOT_TRANSLATED +HP:0001878 Increased hemolysis NOT_TRANSLATED +HP:0001879 Abnormality of eosinophils NOT_TRANSLATED +HP:0001880 High blood eosinophil count NOT_TRANSLATED +HP:0001881 Abnormality of leukocytes NOT_TRANSLATED +HP:0001882 Decreased blood leukocyte number NOT_TRANSLATED +HP:0001882 Low white blood cell count NOT_TRANSLATED +HP:0001883 Talipes foot deformities NOT_TRANSLATED +HP:0001884 Pes calcaneovarus NOT_TRANSLATED +HP:0001885 Short second toe NOT_TRANSLATED +HP:0001886 Foot bone infection NOT_TRANSLATED +HP:0001888 Absolute lymphocyte count decrease NOT_TRANSLATED +HP:0001888 Decreased blood lymphocyte number NOT_TRANSLATED +HP:0001888 Low lymphocyte number NOT_TRANSLATED +HP:0001888 Lymphocytopenia NOT_TRANSLATED +HP:0001889 Megaloblastic anaemia NOT_TRANSLATED +HP:0001890 Autoimmune haemolytic anaemia NOT_TRANSLATED +HP:0001890 Autoimmune hemolytic anaemia NOT_TRANSLATED +HP:0001890 Hemolytic anemia, autoimmune NOT_TRANSLATED +HP:0001891 Ferropenic NOT_TRANSLATED +HP:0001891 Iron deficiency anaemia NOT_TRANSLATED +HP:0001891 Iron-deficiency anaemia NOT_TRANSLATED +HP:0001891 Iron-deficiency anemia NOT_TRANSLATED +HP:0001892 Bleeding diathesis NOT_TRANSLATED +HP:0001892 Bleeding tendency NOT_TRANSLATED +HP:0001892 Hemorrhagic diathesis NOT_TRANSLATED +HP:0001894 Increased number of platelets in blood NOT_TRANSLATED +HP:0001894 Increased platelet count NOT_TRANSLATED +HP:0001894 Thrombocythaemia NOT_TRANSLATED +HP:0001894 Thrombocythemia NOT_TRANSLATED +HP:0001895 Normochromic anaemia NOT_TRANSLATED +HP:0001897 Normocytic anaemia NOT_TRANSLATED +HP:0001898 Increased RBC mass NOT_TRANSLATED +HP:0001899 Increased Hct NOT_TRANSLATED +HP:0001900 Increased Hb NOT_TRANSLATED +HP:0001900 Increased haemoglobin NOT_TRANSLATED +HP:0001901 Abnormally shaped erythrocytes NOT_TRANSLATED +HP:0001901 Erythrocytosis NOT_TRANSLATED +HP:0001901 Increased red blood cells NOT_TRANSLATED +HP:0001901 Polyglobulia NOT_TRANSLATED +HP:0001903 Anaemia NOT_TRANSLATED +HP:0001903 Decreased haemoglobin NOT_TRANSLATED +HP:0001903 Decreased hemoglobin NOT_TRANSLATED +HP:0001903 Low number of red blood cells or haemoglobin NOT_TRANSLATED +HP:0001903 Low number of red blood cells or hemoglobin NOT_TRANSLATED +HP:0001904 Autoimmune neutropenia NOT_TRANSLATED +HP:0001905 thrombocytopenia, congenital NOT_TRANSLATED +HP:0001907 Blood clot in blood vessel NOT_TRANSLATED +HP:0001907 Embolism and thrombosis NOT_TRANSLATED +HP:0001907 Thromboembolic disease NOT_TRANSLATED +HP:0001907 Thromboembolic events NOT_TRANSLATED +HP:0001908 Hypoplastic anaemia NOT_TRANSLATED +HP:0001909 Blood cancer NOT_TRANSLATED +HP:0001909 Leukaemia NOT_TRANSLATED +HP:0001911 Abnormality of granulocytes NOT_TRANSLATED +HP:0001912 Abnormality of basophils NOT_TRANSLATED +HP:0001915 Aplastic anaemia NOT_TRANSLATED +HP:0001919 Acute kidney failure NOT_TRANSLATED +HP:0001919 Acute renal failure NOT_TRANSLATED +HP:0001920 Narrowing of kidney artery NOT_TRANSLATED +HP:0001922 Enlarged lysosomal vacuoles in lymphocytes NOT_TRANSLATED +HP:0001922 Vacuolated blood lymphocytes NOT_TRANSLATED +HP:0001923 Increased immature red blood cells NOT_TRANSLATED +HP:0001923 Increased number of immature red blood cells NOT_TRANSLATED +HP:0001923 Increased reticulocyte count NOT_TRANSLATED +HP:0001923 Increased reticulocytes NOT_TRANSLATED +HP:0001923 Polychromasia NOT_TRANSLATED +HP:0001924 Hypersideremic anaemia NOT_TRANSLATED +HP:0001924 Hypersideremic anemia NOT_TRANSLATED +HP:0001924 Sideroblastic anaemia NOT_TRANSLATED +HP:0001927 Acanthocytes NOT_TRANSLATED +HP:0001927 Red cell acanthocytosis NOT_TRANSLATED +HP:0001928 Abnormal blood coagulation studies NOT_TRANSLATED +HP:0001928 Blood coagulation disorder NOT_TRANSLATED +HP:0001928 Coagulation abnormalities NOT_TRANSLATED +HP:0001928 Coagulation abnormality NOT_TRANSLATED +HP:0001928 Haemorrhagic disorders NOT_TRANSLATED +HP:0001929 Factor XI deficiency NOT_TRANSLATED +HP:0001929 Low factor XI activity NOT_TRANSLATED +HP:0001930 Nonspherocytic hemolytic anaemia NOT_TRANSLATED +HP:0001931 Hypochromic anaemia NOT_TRANSLATED +HP:0001933 Bleeding below the skin NOT_TRANSLATED +HP:0001933 Subcutaneous haemorrhage NOT_TRANSLATED +HP:0001934 Excessive bleeding after minor trauma NOT_TRANSLATED +HP:0001934 Frequent bleeding with trauma NOT_TRANSLATED +HP:0001934 Prolonged bleeding after minor trauma NOT_TRANSLATED +HP:0001935 Microcytic anaemia NOT_TRANSLATED +HP:0001937 Microangiopathic hemolytic anaemia NOT_TRANSLATED +HP:0001939 Laboratory abnormality NOT_TRANSLATED +HP:0001939 Metabolism abnormality NOT_TRANSLATED +HP:0001943 Hypoglycaemia NOT_TRANSLATED +HP:0001943 Low blood sugar NOT_TRANSLATED +HP:0001944 Exsiccosis NOT_TRANSLATED +HP:0001945 Hyperthermia NOT_TRANSLATED +HP:0001945 Pyrexia NOT_TRANSLATED +HP:0001946 High levels of ketone bodies NOT_TRANSLATED +HP:0001946 Hyperketosis NOT_TRANSLATED +HP:0001947 Accumulation of acid in body due to kidney problem NOT_TRANSLATED +HP:0001952 Abnormal glucose tolerance NOT_TRANSLATED +HP:0001953 Diabetic ketosis NOT_TRANSLATED +HP:0001954 Episodic fever NOT_TRANSLATED +HP:0001954 Hyperthermia, episodic NOT_TRANSLATED +HP:0001954 Increased body temperature, episodic NOT_TRANSLATED +HP:0001954 Intermittent fever NOT_TRANSLATED +HP:0001956 Centripetal obesity NOT_TRANSLATED +HP:0001959 Extreme thirst NOT_TRANSLATED +HP:0001961 Small heart NOT_TRANSLATED +HP:0001961 Underdeveloped heart NOT_TRANSLATED +HP:0001962 Heart palpitations NOT_TRANSLATED +HP:0001962 Missed heart beat NOT_TRANSLATED +HP:0001962 Skipped heart beat NOT_TRANSLATED +HP:0001963 Poor speech discrimination NOT_TRANSLATED +HP:0001964 Absent or hypoplastic metatarsal NOT_TRANSLATED +HP:0001964 Absent/hypoplastic metacarpals NOT_TRANSLATED +HP:0001964 Absent/hypoplastic metatarsals NOT_TRANSLATED +HP:0001964 Absent/small long bone of foot NOT_TRANSLATED +HP:0001964 Absent/underdeveloped long bone of foot NOT_TRANSLATED +HP:0001964 Aplastic/hypoplastic metatarsals NOT_TRANSLATED +HP:0001965 Abnormality of the scalp NOT_TRANSLATED +HP:0001965 Anomaly of scalp NOT_TRANSLATED +HP:0001966 Abnormality glomerular mesangium morphology NOT_TRANSLATED +HP:0001966 Abnormality of the glomerular mesangium NOT_TRANSLATED +HP:0001966 Mesangial abnormality NOT_TRANSLATED +HP:0001967 Diffuse mesangial sclerosis glomerulopathy NOT_TRANSLATED +HP:0001967 Mesangial sclerosis NOT_TRANSLATED +HP:0001969 Tubulointerstitial abnormality NOT_TRANSLATED +HP:0001969 Tubulointerstitial nephropathy NOT_TRANSLATED +HP:0001970 Interstitial nephritis NOT_TRANSLATED +HP:0001970 Nephritis, Tubulointerstitial NOT_TRANSLATED +HP:0001972 Macrocytic anaemia NOT_TRANSLATED +HP:0001973 Idiopathic thrombocytopenia NOT_TRANSLATED +HP:0001973 Idiopathic thrombocytopenic purpura NOT_TRANSLATED +HP:0001973 Immune thrombocytopenia NOT_TRANSLATED +HP:0001974 Elevated white blood count NOT_TRANSLATED +HP:0001974 High white blood count NOT_TRANSLATED +HP:0001974 Increased blood leukocyte number NOT_TRANSLATED +HP:0001975 Glanzmann thrombasthenia NOT_TRANSLATED +HP:0001975 Reduced level of platelet glycoprotein IIb/IIIa complex NOT_TRANSLATED +HP:0001976 Anti-thrombin III deficiency NOT_TRANSLATED +HP:0001976 Antithrombin III deficiency NOT_TRANSLATED +HP:0001976 Decreased antithrombin III NOT_TRANSLATED +HP:0001977 Abnormal blood clot NOT_TRANSLATED +HP:0001977 Abnormal blood clotting NOT_TRANSLATED +HP:0001978 Extramedullary erythropoiesis NOT_TRANSLATED +HP:0001981 Schistocytes NOT_TRANSLATED +HP:0001982 Sea-blue histiocyte NOT_TRANSLATED +HP:0001983 Cd43 defectively expressed on surface of blood cells NOT_TRANSLATED +HP:0001983 Reduced lymphocyte surface expression of sialophorin NOT_TRANSLATED +HP:0001985 Hypoglycemia, hypoketotic NOT_TRANSLATED +HP:0001986 Hyperosmolar dehydration NOT_TRANSLATED +HP:0001987 High blood ammonia levels NOT_TRANSLATED +HP:0001988 Hypoglycemic episodes NOT_TRANSLATED +HP:0001988 Recurrent hypoglycaemia NOT_TRANSLATED +HP:0001988 Recurrent hypoglycemic episodes NOT_TRANSLATED +HP:0001988 Recurrent low blood sugar levels NOT_TRANSLATED +HP:0001988 hypoglycaemia, recurrent NOT_TRANSLATED +HP:0001988 hypoglycemia, recurrent NOT_TRANSLATED +HP:0001989 Early severe fetal akinesia sequence NOT_TRANSLATED +HP:0001989 Early severe foetal akinesia sequence NOT_TRANSLATED +HP:0001989 Fetal akinesia NOT_TRANSLATED +HP:0001989 Foetal akinesia NOT_TRANSLATED +HP:0001989 Foetal akinesia sequence NOT_TRANSLATED +HP:0001991 Absent/hypoplastic toes NOT_TRANSLATED +HP:0001991 Absent/small toe NOT_TRANSLATED +HP:0001991 Absent/underdeveloped toe NOT_TRANSLATED +HP:0001991 Aplastic/hypoplastic toe phalanges NOT_TRANSLATED +HP:0001994 De toni-fanconi-debre syndrome NOT_TRANSLATED +HP:0001994 Renal tubular fanconi syndrome NOT_TRANSLATED +HP:0001997 Gouty arthritis NOT_TRANSLATED +HP:0001998 Low blood sugar in newborn NOT_TRANSLATED +HP:0001999 Abnormal morphology of the face NOT_TRANSLATED +HP:0001999 Deformity of face NOT_TRANSLATED +HP:0001999 Distinctive facies NOT_TRANSLATED +HP:0001999 Distortion of face NOT_TRANSLATED +HP:0001999 Dysmorphic facial features NOT_TRANSLATED +HP:0001999 Dysmorphic facies NOT_TRANSLATED +HP:0001999 Facial dysmorphism NOT_TRANSLATED +HP:0001999 Funny looking face NOT_TRANSLATED +HP:0001999 Malformation of face NOT_TRANSLATED +HP:0001999 Unusual facial appearance NOT_TRANSLATED +HP:0001999 Unusual facies NOT_TRANSLATED +HP:0002000 Columella, short NOT_TRANSLATED +HP:0002000 Decreased length of columella NOT_TRANSLATED +HP:0002000 Hypoplasia of columella NOT_TRANSLATED +HP:0002002 Depressed philtrum NOT_TRANSLATED +HP:0002002 Increased depth of philtrum NOT_TRANSLATED +HP:0002002 Philtrum, deep NOT_TRANSLATED +HP:0002002 Prominent philtrum NOT_TRANSLATED +HP:0002002 Pronounced philtrum NOT_TRANSLATED +HP:0002003 Hyperplasia of forehead NOT_TRANSLATED +HP:0002003 Hypertrophy of forehead NOT_TRANSLATED +HP:0002003 Increased size of forehead NOT_TRANSLATED +HP:0002003 Increased size of frontal region of face NOT_TRANSLATED +HP:0002006 Cleft of the face NOT_TRANSLATED +HP:0002006 Facial clefts NOT_TRANSLATED +HP:0002006 Tessier facial cleft NOT_TRANSLATED +HP:0002007 Frontal protruberance NOT_TRANSLATED +HP:0002007 Skull bossing NOT_TRANSLATED +HP:0002010 Decreased breadth of upper jaw bones NOT_TRANSLATED +HP:0002010 Decreased transverse dimension of maxilla NOT_TRANSLATED +HP:0002010 Decreased width of maxilla NOT_TRANSLATED +HP:0002010 Decreased width of upper jaw bones NOT_TRANSLATED +HP:0002010 Narrow upper jaw bones NOT_TRANSLATED +HP:0002010 Transverse hypoplasia of maxilla NOT_TRANSLATED +HP:0002010 Transverse maxillary deficiency NOT_TRANSLATED +HP:0002010 Transverse maxillary insufficiency NOT_TRANSLATED +HP:0002011 Abnormality of the central nervous system NOT_TRANSLATED +HP:0002011 Central nervous system disease NOT_TRANSLATED +HP:0002011 Morphological abnormality of the CNS NOT_TRANSLATED +HP:0002011 Morphological abnormality of the central nervous system NOT_TRANSLATED +HP:0002012 Gastrointestinal tract defects NOT_TRANSLATED +HP:0002013 Emesis NOT_TRANSLATED +HP:0002013 Throwing up NOT_TRANSLATED +HP:0002014 Diarrhoea NOT_TRANSLATED +HP:0002014 Watery stool NOT_TRANSLATED +HP:0002015 Deglutition disorder NOT_TRANSLATED +HP:0002015 Difficulty swallowing NOT_TRANSLATED +HP:0002015 Poor swallowing NOT_TRANSLATED +HP:0002015 Swallowing difficulties NOT_TRANSLATED +HP:0002015 Swallowing difficulty NOT_TRANSLATED +HP:0002019 Costiveness NOT_TRANSLATED +HP:0002019 Dyschezia NOT_TRANSLATED +HP:0002020 Acid reflux NOT_TRANSLATED +HP:0002020 Acid reflux disease NOT_TRANSLATED +HP:0002020 GERD NOT_TRANSLATED +HP:0002020 Gastro-esophageal reflux NOT_TRANSLATED +HP:0002020 Gastro-oesophageal reflux NOT_TRANSLATED +HP:0002020 Gastroesophageal reflux disease NOT_TRANSLATED +HP:0002020 Heartburn NOT_TRANSLATED +HP:0002021 Infantile hypertrophic pyloric stenosis NOT_TRANSLATED +HP:0002021 Pylorus stenosis NOT_TRANSLATED +HP:0002023 Absent anus NOT_TRANSLATED +HP:0002023 Imperforate anus NOT_TRANSLATED +HP:0002024 Intestinal malabsorption NOT_TRANSLATED +HP:0002025 Narrowing of anal opening NOT_TRANSLATED +HP:0002027 Abdominal discomfort NOT_TRANSLATED +HP:0002027 Gastro pain NOT_TRANSLATED +HP:0002027 Gastrointestinal pain NOT_TRANSLATED +HP:0002027 Pain in stomach NOT_TRANSLATED +HP:0002027 Stomach pain NOT_TRANSLATED +HP:0002027 Upset stomach NOT_TRANSLATED +HP:0002028 Chronic diarrhoea NOT_TRANSLATED +HP:0002028 Diarrhea, recurrent NOT_TRANSLATED +HP:0002028 Recurrent diarrhea NOT_TRANSLATED +HP:0002028 Recurrent diarrhoea NOT_TRANSLATED +HP:0002031 Abnormal oesophagus morphology NOT_TRANSLATED +HP:0002031 Abnormality of esophagus structure NOT_TRANSLATED +HP:0002031 Abnormality of oesophagus structure NOT_TRANSLATED +HP:0002031 Anomaly of the esophagus NOT_TRANSLATED +HP:0002031 Anomaly of the oesophagus NOT_TRANSLATED +HP:0002032 Birth defect in which part of esophagus did not develop NOT_TRANSLATED +HP:0002032 Birth defect in which part of oesophagus did not develop NOT_TRANSLATED +HP:0002033 Poor sucking NOT_TRANSLATED +HP:0002033 Sucking weakness NOT_TRANSLATED +HP:0002034 Abnormality of the rectum NOT_TRANSLATED +HP:0002034 Anomaly of the rectum NOT_TRANSLATED +HP:0002035 Rectal prolapsed NOT_TRANSLATED +HP:0002035 Rectum protrudes through anus NOT_TRANSLATED +HP:0002036 Hiatal hernia NOT_TRANSLATED +HP:0002036 Stomach hernia NOT_TRANSLATED +HP:0002037 Inflammatory bowel disease NOT_TRANSLATED +HP:0002040 Enlarged vein in esophagus NOT_TRANSLATED +HP:0002040 Enlarged vein in oesophagus NOT_TRANSLATED +HP:0002040 Esophageal varices NOT_TRANSLATED +HP:0002041 Intractable diarrhoea NOT_TRANSLATED +HP:0002043 Narrowing of esophagus due to inflammation and scar tissue NOT_TRANSLATED +HP:0002043 Narrowing of oesophagus due to inflammation and scar tissue NOT_TRANSLATED +HP:0002045 Abnormally low body temperature NOT_TRANSLATED +HP:0002046 Intolerance to heat and fevers NOT_TRANSLATED +HP:0002047 Malignant hyperthermia with anaesthesia NOT_TRANSLATED +HP:0002047 Malignant hyperthermia with anesthesia NOT_TRANSLATED +HP:0002049 Proximal tubular acidosis NOT_TRANSLATED +HP:0002049 Renal tubular acidosis, proximal NOT_TRANSLATED +HP:0002049 Renal tubular acidosis, type II NOT_TRANSLATED +HP:0002054 Heavy brow of the face NOT_TRANSLATED +HP:0002054 Heavy supraorbital ridge NOT_TRANSLATED +HP:0002056 Afwijking van het gebied tussen de wenkbrauwen CANDIDATE +HP:0002056 Deformiteit van het gebied tussen de wenkbrauwen CANDIDATE +HP:0002056 Glabellaire afwijking CANDIDATE +HP:0002056 Malformatie van het gebied tussen de wenkbrauwen CANDIDATE +HP:0002057 Convex glabella CANDIDATE +HP:0002057 Hyperplasie van glabella CANDIDATE +HP:0002057 Prominent gebied tussen de wenkbrauwen CANDIDATE +HP:0002057 Vooruitstekend gebied tussen de wenkbrauwen CANDIDATE +HP:0002058 Myopathic face NOT_TRANSLATED +HP:0002058 Myopathic facial appearance NOT_TRANSLATED +HP:0002059 Degeneration of cerebrum NOT_TRANSLATED +HP:0002059 Supratentorial atrophy NOT_TRANSLATED +HP:0002060 Abnormality of the cerebrum NOT_TRANSLATED +HP:0002060 Abnormality of the telencephalon NOT_TRANSLATED +HP:0002060 Cerebral lesion NOT_TRANSLATED +HP:0002062 Abnormality of the pyramidal tracts NOT_TRANSLATED +HP:0002062 Pyramidal tract disease NOT_TRANSLATED +HP:0002063 Muscle rigidity NOT_TRANSLATED +HP:0002064 Spastic walk NOT_TRANSLATED +HP:0002066 Ataxia of gait NOT_TRANSLATED +HP:0002066 Ataxic gait NOT_TRANSLATED +HP:0002066 Inability to coordinate movements when walking NOT_TRANSLATED +HP:0002067 Slow movements NOT_TRANSLATED +HP:0002067 Slowness of movements NOT_TRANSLATED +HP:0002069 Bilateral convulsive seizures NOT_TRANSLATED +HP:0002069 Generalised convulsion NOT_TRANSLATED +HP:0002069 Generalised tonic-clonic seizure (without specification of onset) NOT_TRANSLATED +HP:0002069 Generalized convulsion NOT_TRANSLATED +HP:0002069 Generalized tonic-clonic seizure (without specification of onset) NOT_TRANSLATED +HP:0002069 Grand mal NOT_TRANSLATED +HP:0002069 Grand mal seizures NOT_TRANSLATED +HP:0002069 Seizures, tonic-clonic NOT_TRANSLATED +HP:0002069 Tonic-clonic convulsion NOT_TRANSLATED +HP:0002069 Tonic-clonic convulsions NOT_TRANSLATED +HP:0002070 Appendicular ataxia NOT_TRANSLATED +HP:0002071 Extrapyramidal dysfunction NOT_TRANSLATED +HP:0002071 Extrapyramidal signs NOT_TRANSLATED +HP:0002071 Extrapyramidal symptoms NOT_TRANSLATED +HP:0002071 Extrapyramidal syndrome NOT_TRANSLATED +HP:0002071 Extrapyramidal tract signs NOT_TRANSLATED +HP:0002072 Choreatic disease NOT_TRANSLATED +HP:0002072 Choreic movements NOT_TRANSLATED +HP:0002072 Choreiform movements NOT_TRANSLATED +HP:0002073 Cerebellar ataxia, progressive NOT_TRANSLATED +HP:0002073 Progressive ataxia NOT_TRANSLATED +HP:0002074 Neuronal lipopigments NOT_TRANSLATED +HP:0002075 Difficulty performing quick and alternating movements NOT_TRANSLATED +HP:0002075 Dysdiadochokinesia NOT_TRANSLATED +HP:0002076 Intermittent migraine headaches NOT_TRANSLATED +HP:0002076 Migraine headache NOT_TRANSLATED +HP:0002076 Migraine headaches NOT_TRANSLATED +HP:0002078 Instability or lack of coordination of central trunk muscles NOT_TRANSLATED +HP:0002078 Trunk ataxia NOT_TRANSLATED +HP:0002079 Corpus callosum hypoplasia NOT_TRANSLATED +HP:0002079 Hypoplasia of corpus callosum NOT_TRANSLATED +HP:0002079 Hypoplastic corpus callosum NOT_TRANSLATED +HP:0002079 Underdevelopment of part of brain called corpus callosum NOT_TRANSLATED +HP:0002080 Cerebellar tremor NOT_TRANSLATED +HP:0002080 Terminal tremor NOT_TRANSLATED +HP:0002084 Bifid skull NOT_TRANSLATED +HP:0002084 Cranium bifidum NOT_TRANSLATED +HP:0002085 Brain tissue sticks out through back of skull NOT_TRANSLATED +HP:0002085 Occipital meningoencephalocele NOT_TRANSLATED +HP:0002085 Posterior encephalocele NOT_TRANSLATED +HP:0002086 Respiratory abnormality NOT_TRANSLATED +HP:0002087 Upper respiratory tract issues NOT_TRANSLATED +HP:0002088 Abnormality of lung structure NOT_TRANSLATED +HP:0002088 Abnormality of the lungs NOT_TRANSLATED +HP:0002088 Abnormally shaped lung NOT_TRANSLATED +HP:0002088 Lung disease NOT_TRANSLATED +HP:0002088 Unusal lung shape NOT_TRANSLATED +HP:0002089 Hypoplastic lung NOT_TRANSLATED +HP:0002089 Hypoplastic lungs NOT_TRANSLATED +HP:0002089 Lung hypoplasia NOT_TRANSLATED +HP:0002089 Poorly developed lungs NOT_TRANSLATED +HP:0002089 Small lung NOT_TRANSLATED +HP:0002089 Underdeveloped lung NOT_TRANSLATED +HP:0002091 Restrictive deficit on pulmonary function testing NOT_TRANSLATED +HP:0002091 Restrictive deficit on pulmonary function tests NOT_TRANSLATED +HP:0002091 Restrictive lung disease NOT_TRANSLATED +HP:0002091 Restrictive respiratory disease NOT_TRANSLATED +HP:0002091 Restrictive respiratory insufficiency NOT_TRANSLATED +HP:0002091 Restrictive respiratory syndrome NOT_TRANSLATED +HP:0002091 Spirometric restriction NOT_TRANSLATED +HP:0002091 Stiff lung or chest wall causing decreased lung volume NOT_TRANSLATED +HP:0002092 Increased blood pressure in blood vessels of lungs NOT_TRANSLATED +HP:0002092 Primary pulmonary hypertension NOT_TRANSLATED +HP:0002092 Pulmonary artery hypertension NOT_TRANSLATED +HP:0002093 Respiratory function loss NOT_TRANSLATED +HP:0002093 Respiratory impairment NOT_TRANSLATED +HP:0002094 Abnormal breathing NOT_TRANSLATED +HP:0002094 Breathing difficulty NOT_TRANSLATED +HP:0002094 Difficult to breathe NOT_TRANSLATED +HP:0002094 Difficulty breathing NOT_TRANSLATED +HP:0002094 Dyspnoea NOT_TRANSLATED +HP:0002094 Panting NOT_TRANSLATED +HP:0002094 Shortness of breath NOT_TRANSLATED +HP:0002094 Trouble breathing NOT_TRANSLATED +HP:0002097 Pulmonary emphysema NOT_TRANSLATED +HP:0002098 Breathing difficulties NOT_TRANSLATED +HP:0002098 Labored breathing NOT_TRANSLATED +HP:0002098 Respiratory difficulties NOT_TRANSLATED +HP:0002099 Bronchial asthma NOT_TRANSLATED +HP:0002099 Reactive airway disease NOT_TRANSLATED +HP:0002100 Recurrent pneumonia due to aspiration, NOT_TRANSLATED +HP:0002101 Defective lung lobation NOT_TRANSLATED +HP:0002101 Lung segmentation defects NOT_TRANSLATED +HP:0002102 Inflammation of tissues lining lungs and chest NOT_TRANSLATED +HP:0002102 Pleurisy NOT_TRANSLATED +HP:0002103 Abnormality of the pleura NOT_TRANSLATED +HP:0002104 Absence of spontaneous respiration NOT_TRANSLATED +HP:0002104 Apneic episodes NOT_TRANSLATED +HP:0002104 Apnoea NOT_TRANSLATED +HP:0002105 Coughing up blood NOT_TRANSLATED +HP:0002105 Coughing up blood or blood-stained mucus NOT_TRANSLATED +HP:0002105 Haemoptysis NOT_TRANSLATED +HP:0002107 Collapsed lung NOT_TRANSLATED +HP:0002108 Spontaneous collapsed lung NOT_TRANSLATED +HP:0002110 Permanent enlargement of the airways of the lungs NOT_TRANSLATED +HP:0002113 Lung infiltrates NOT_TRANSLATED +HP:0002113 Pulmonic infiltration NOT_TRANSLATED +HP:0002118 Abnormality of the cerebral ventricles NOT_TRANSLATED +HP:0002119 Cerebral ventricular dilatation NOT_TRANSLATED +HP:0002119 Dilated cerebral ventricle NOT_TRANSLATED +HP:0002119 Dilated cerebral ventricles NOT_TRANSLATED +HP:0002119 Dilated ventricles NOT_TRANSLATED +HP:0002119 Enlarged cerebral ventricles NOT_TRANSLATED +HP:0002119 Enlarged ventricles NOT_TRANSLATED +HP:0002119 Enlarged ventricular system NOT_TRANSLATED +HP:0002119 Large cerebral ventricles and cisternae NOT_TRANSLATED +HP:0002119 Ventricular dilatation NOT_TRANSLATED +HP:0002120 Cerebral cortex atrophy NOT_TRANSLATED +HP:0002120 Cortical atrophy NOT_TRANSLATED +HP:0002120 Decrease in size of the outer layer of the brain due to loss of brain cells NOT_TRANSLATED +HP:0002121 Absence seizure NOT_TRANSLATED +HP:0002121 Absence seizures NOT_TRANSLATED +HP:0002121 Brief seizures with staring spells NOT_TRANSLATED +HP:0002121 Generalised non-motor (absence) seizure NOT_TRANSLATED +HP:0002121 Generalised non-motor seizure NOT_TRANSLATED +HP:0002121 Petit mal NOT_TRANSLATED +HP:0002121 Petit mal seizure NOT_TRANSLATED +HP:0002121 Petit mal seizures NOT_TRANSLATED +HP:0002123 Generalised epileptic myoclonus NOT_TRANSLATED +HP:0002123 Generalised myoclonic seizure NOT_TRANSLATED +HP:0002123 Generalised myoclonic seizures NOT_TRANSLATED +HP:0002123 Generalized epileptic myoclonus NOT_TRANSLATED +HP:0002123 Generalized myoclonic seizures NOT_TRANSLATED +HP:0002123 Myoclonic epilepsy, progressive NOT_TRANSLATED +HP:0002123 Myoclonus seizures NOT_TRANSLATED +HP:0002126 More grooves in brain NOT_TRANSLATED +HP:0002127 Abnormal shape of upper motor neuron NOT_TRANSLATED +HP:0002131 Intermittent cerebellar ataxia NOT_TRANSLATED +HP:0002131 Paroxysmal ataxia NOT_TRANSLATED +HP:0002132 Cavity within brain NOT_TRANSLATED +HP:0002133 Prolonged seizure NOT_TRANSLATED +HP:0002133 Repeated seizure without recovery NOT_TRANSLATED +HP:0002133 Repeated seizures without recovery between them NOT_TRANSLATED +HP:0002134 Abnormality of the basal ganglia NOT_TRANSLATED +HP:0002134 Anomaly of the basal ganglia NOT_TRANSLATED +HP:0002134 Basal ganglia disease NOT_TRANSLATED +HP:0002135 Basal ganglia calcifications NOT_TRANSLATED +HP:0002135 Basal ganglion calcification NOT_TRANSLATED +HP:0002135 Calcification of the basal ganglia NOT_TRANSLATED +HP:0002136 Broad based gait NOT_TRANSLATED +HP:0002136 Wide based gait NOT_TRANSLATED +HP:0002136 Wide based walk NOT_TRANSLATED +HP:0002136 Wide-based gait NOT_TRANSLATED +HP:0002138 Subarachnoid haemorrhage NOT_TRANSLATED +HP:0002140 Ischaemic stroke NOT_TRANSLATED +HP:0002141 Abnormality of balance NOT_TRANSLATED +HP:0002141 Abnormality of equilibrium NOT_TRANSLATED +HP:0002141 Imbalanced walk NOT_TRANSLATED +HP:0002143 Spinal cord disease NOT_TRANSLATED +HP:0002143 Spinal cord pathology NOT_TRANSLATED +HP:0002144 Occult spinal dysraphism NOT_TRANSLATED +HP:0002148 Hypophosphataemia NOT_TRANSLATED +HP:0002148 Low blood phosphate level NOT_TRANSLATED +HP:0002149 High blood uric acid level NOT_TRANSLATED +HP:0002149 Hyperuricaemia NOT_TRANSLATED +HP:0002150 Elevated urine calcium levels NOT_TRANSLATED +HP:0002150 Hypercalcinuria NOT_TRANSLATED +HP:0002151 Higher than normal levels of lactate in blood NOT_TRANSLATED +HP:0002151 Increased blood lactate NOT_TRANSLATED +HP:0002153 Elevated serum potassium levels NOT_TRANSLATED +HP:0002154 Elevated blood glycine levels NOT_TRANSLATED +HP:0002154 Hyperglycinaemia NOT_TRANSLATED +HP:0002155 Increased circulating Tg levels NOT_TRANSLATED +HP:0002155 Increased plasma Tg levels NOT_TRANSLATED +HP:0002155 Increased plasma triglycerides NOT_TRANSLATED +HP:0002155 Increased serum triglycerides NOT_TRANSLATED +HP:0002155 Increased triglycerides NOT_TRANSLATED +HP:0002156 High urine homocystine levels NOT_TRANSLATED +HP:0002157 Azotaemia NOT_TRANSLATED +HP:0002159 Heparan sulphate excretion in urine NOT_TRANSLATED +HP:0002160 Elevated blood homocystine NOT_TRANSLATED +HP:0002160 Homocystinemia NOT_TRANSLATED +HP:0002161 Elevated blood lysine NOT_TRANSLATED +HP:0002162 Low hairline at back of neck NOT_TRANSLATED +HP:0002162 Low posterior hair line NOT_TRANSLATED +HP:0002164 Atypical nail growth NOT_TRANSLATED +HP:0002164 Dysplastic nails NOT_TRANSLATED +HP:0002164 Onychodysplasia NOT_TRANSLATED +HP:0002165 Nail pterygium NOT_TRANSLATED +HP:0002166 Decreased lower limb vibratory sense NOT_TRANSLATED +HP:0002166 Decreased vibratory sense in lower limbs NOT_TRANSLATED +HP:0002166 Decreased vibratory sense in the lower extremities NOT_TRANSLATED +HP:0002166 Decreased vibratory sense in the lower limbs NOT_TRANSLATED +HP:0002166 Diminished vibratory sensation in the legs NOT_TRANSLATED +HP:0002166 Distal sensory loss, especially vibratory sense NOT_TRANSLATED +HP:0002166 Distal vibratory impairment of the lower limbs NOT_TRANSLATED +HP:0002167 Speech disorder NOT_TRANSLATED +HP:0002167 Speech impairment NOT_TRANSLATED +HP:0002167 Speech impediment NOT_TRANSLATED +HP:0002168 Explosive speech NOT_TRANSLATED +HP:0002169 Involuntary rhythmic muscular contractions and relaxations NOT_TRANSLATED +HP:0002170 Bleeding within the skull NOT_TRANSLATED +HP:0002170 Intracranial haemorrhage NOT_TRANSLATED +HP:0002171 Cerebral gliosis NOT_TRANSLATED +HP:0002171 Excess astrocytes in brain NOT_TRANSLATED +HP:0002172 Abnormal retropulsion test NOT_TRANSLATED +HP:0002172 Balance impairment NOT_TRANSLATED +HP:0002172 Imbalance NOT_TRANSLATED +HP:0002174 Tremor, postural NOT_TRANSLATED +HP:0002176 Pressure on spinal cord NOT_TRANSLATED +HP:0002179 Opisthotonos NOT_TRANSLATED +HP:0002180 Neuro-degenerative disease NOT_TRANSLATED +HP:0002180 Neurodegenerative disease NOT_TRANSLATED +HP:0002180 Ongoing loss of nerve cells NOT_TRANSLATED +HP:0002180 Progressive neurodegenerative disorder NOT_TRANSLATED +HP:0002181 Brain edema NOT_TRANSLATED +HP:0002181 Brain oedema NOT_TRANSLATED +HP:0002181 Brain swelling NOT_TRANSLATED +HP:0002181 Cerebral oedema NOT_TRANSLATED +HP:0002181 Swelling of brain NOT_TRANSLATED +HP:0002183 Fear of loud sounds NOT_TRANSLATED +HP:0002185 Neurofibrillary tangles composed of disordered microtubules in neurons NOT_TRANSLATED +HP:0002185 Paired helical filaments NOT_TRANSLATED +HP:0002186 Apraxias NOT_TRANSLATED +HP:0002187 Mentale retardatie, zeer ernstig CANDIDATE +HP:0002187 Zeer ernstige verstandelijke beperking CANDIDATE +HP:0002188 Delay in central nervous system myelination NOT_TRANSLATED +HP:0002191 Spasticity, progressive NOT_TRANSLATED +HP:0002193 Pseudobulbar behavioural symptoms NOT_TRANSLATED +HP:0002194 Delayed gross motor skills NOT_TRANSLATED +HP:0002194 Delayed motor skills NOT_TRANSLATED +HP:0002194 Developmental delay, gross motor NOT_TRANSLATED +HP:0002194 Gross motor delay NOT_TRANSLATED +HP:0002194 Limited gross motor development NOT_TRANSLATED +HP:0002197 Generalised onset seizure NOT_TRANSLATED +HP:0002197 Generalised seizures NOT_TRANSLATED +HP:0002197 Generalised-onset seizure NOT_TRANSLATED +HP:0002197 Generalized onset seizure NOT_TRANSLATED +HP:0002197 Generalized seizures NOT_TRANSLATED +HP:0002197 Generalized-onset seizures NOT_TRANSLATED +HP:0002197 Primary generalised seizure NOT_TRANSLATED +HP:0002197 Primary generalized seizure NOT_TRANSLATED +HP:0002198 Enlarged fourth ventricle NOT_TRANSLATED +HP:0002199 Low calcium seizures NOT_TRANSLATED +HP:0002199 Seizures due to hypocalcemia NOT_TRANSLATED +HP:0002200 Pseudobulbar symptoms NOT_TRANSLATED +HP:0002202 Fluid around lungs NOT_TRANSLATED +HP:0002204 Blood clot in artery of lung NOT_TRANSLATED +HP:0002205 Frequent respiratory infections NOT_TRANSLATED +HP:0002205 Multiple respiratory infections NOT_TRANSLATED +HP:0002205 Susceptibility to respiratory infections NOT_TRANSLATED +HP:0002205 respiratory infections, recurrent NOT_TRANSLATED +HP:0002208 Coarse hair texture NOT_TRANSLATED +HP:0002208 Rough hair texture NOT_TRANSLATED +HP:0002209 Decreased number of scalp follicles NOT_TRANSLATED +HP:0002209 Hypotrichosis on scalp NOT_TRANSLATED +HP:0002209 Reduced amount of scalp hair NOT_TRANSLATED +HP:0002209 Reduced/lack of hair on scalp NOT_TRANSLATED +HP:0002209 Reduction in the number of scalp follicles NOT_TRANSLATED +HP:0002209 Scalp hypotrichosis NOT_TRANSLATED +HP:0002209 Thin scalp hair NOT_TRANSLATED +HP:0002209 Thinning scalp hair NOT_TRANSLATED +HP:0002211 Poliosis of anterior hair NOT_TRANSLATED +HP:0002211 Poliosis of forelock hair NOT_TRANSLATED +HP:0002211 White part of hair above forehead NOT_TRANSLATED +HP:0002213 Fine hair shaft NOT_TRANSLATED +HP:0002213 Fine hair texture NOT_TRANSLATED +HP:0002213 Thin hair NOT_TRANSLATED +HP:0002213 Thin hair shaft NOT_TRANSLATED +HP:0002213 Thin hair texture NOT_TRANSLATED +HP:0002213 Thinned hair NOT_TRANSLATED +HP:0002215 Limited armpit hair NOT_TRANSLATED +HP:0002215 Little underarm hair NOT_TRANSLATED +HP:0002215 Sparse axillary and pubic hair NOT_TRANSLATED +HP:0002215 Sparse scalp, axillary, and pubic hair NOT_TRANSLATED +HP:0002215 sparse to absent axillary hair NOT_TRANSLATED +HP:0002216 Early graying NOT_TRANSLATED +HP:0002216 Early greying NOT_TRANSLATED +HP:0002216 Premature graying NOT_TRANSLATED +HP:0002216 Premature graying of the hair NOT_TRANSLATED +HP:0002216 Premature greying NOT_TRANSLATED +HP:0002216 Premature greying of hair NOT_TRANSLATED +HP:0002216 Premature greying of the hair NOT_TRANSLATED +HP:0002216 Premature hair graying NOT_TRANSLATED +HP:0002216 Premature hair greying NOT_TRANSLATED +HP:0002217 Slow growing hair NOT_TRANSLATED +HP:0002217 Slow rate of hair growth NOT_TRANSLATED +HP:0002217 Slow speed of hair growth NOT_TRANSLATED +HP:0002218 Silver-gray hair color NOT_TRANSLATED +HP:0002218 Silver-gray hair colour NOT_TRANSLATED +HP:0002218 Silvery-gray hair NOT_TRANSLATED +HP:0002219 Increased facial hair growth NOT_TRANSLATED +HP:0002223 Absent eyebrows NOT_TRANSLATED +HP:0002223 Agenesis of eyebrows NOT_TRANSLATED +HP:0002223 Aplasia of eyebrows NOT_TRANSLATED +HP:0002223 Failure of development of eyebrows NOT_TRANSLATED +HP:0002223 Loss of eyebrows NOT_TRANSLATED +HP:0002223 Missing eyebrows NOT_TRANSLATED +HP:0002224 Afro-textured hair NOT_TRANSLATED +HP:0002224 Kinked hair NOT_TRANSLATED +HP:0002224 Kinky hair texture NOT_TRANSLATED +HP:0002224 Nappy hair texture NOT_TRANSLATED +HP:0002224 Wooly hair NOT_TRANSLATED +HP:0002225 Decreased sexual hair NOT_TRANSLATED +HP:0002225 sparse to absent pubic hair NOT_TRANSLATED +HP:0002226 Blonde eyebrow NOT_TRANSLATED +HP:0002226 Depigmented eyebrow NOT_TRANSLATED +HP:0002226 Grey eyebrow NOT_TRANSLATED +HP:0002226 Hypopigmented eyebrow NOT_TRANSLATED +HP:0002226 Pale eyebrow NOT_TRANSLATED +HP:0002227 Blonde eyelashes NOT_TRANSLATED +HP:0002227 Depigmented eyelashes NOT_TRANSLATED +HP:0002227 Grey eyelashes NOT_TRANSLATED +HP:0002227 Pale eyelashes NOT_TRANSLATED +HP:0002230 Excessive hairiness over body NOT_TRANSLATED +HP:0002230 Generalised hirsutism NOT_TRANSLATED +HP:0002231 Limited body hair NOT_TRANSLATED +HP:0002231 Little body hair NOT_TRANSLATED +HP:0002231 Sparse to absent body hair NOT_TRANSLATED +HP:0002232 Alopecia areata NOT_TRANSLATED +HP:0002232 Patchy baldness NOT_TRANSLATED +HP:0002236 Cowlick NOT_TRANSLATED +HP:0002236 Frontal Cowlick NOT_TRANSLATED +HP:0002236 Upswept frontal hair NOT_TRANSLATED +HP:0002236 Upswept frontal hair pattern NOT_TRANSLATED +HP:0002236 Upswept frontal hairline NOT_TRANSLATED +HP:0002239 GI haemorrhage NOT_TRANSLATED +HP:0002239 GI hemorrhage NOT_TRANSLATED +HP:0002239 Gastrointestinal bleeding NOT_TRANSLATED +HP:0002239 Gastrointestinal haemorrhage NOT_TRANSLATED +HP:0002240 Enlarged liver NOT_TRANSLATED +HP:0002242 Abnormality of the intestine NOT_TRANSLATED +HP:0002242 Enteropathy NOT_TRANSLATED +HP:0002246 Abnormality of the duodenum NOT_TRANSLATED +HP:0002247 Absence or narrowing of first part of small bowel NOT_TRANSLATED +HP:0002248 Vomitting blood NOT_TRANSLATED +HP:0002249 Black faeces NOT_TRANSLATED +HP:0002249 Black feces NOT_TRANSLATED +HP:0002250 Abnormality of the large intestine NOT_TRANSLATED +HP:0002251 Congenital megacolon NOT_TRANSLATED +HP:0002251 Enlarged colon lacking nerve cells NOT_TRANSLATED +HP:0002251 Hirschsprung disease NOT_TRANSLATED +HP:0002251 Hirschsprung megacolon NOT_TRANSLATED +HP:0002251 Megacolon NOT_TRANSLATED +HP:0002253 Colon diverticula NOT_TRANSLATED +HP:0002253 Colonic diverticulosis NOT_TRANSLATED +HP:0002254 Episodic diarrhea NOT_TRANSLATED +HP:0002254 Episodic diarrhoea NOT_TRANSLATED +HP:0002254 Intermittent diarrhoea NOT_TRANSLATED +HP:0002263 Cupid bow upper lip NOT_TRANSLATED +HP:0002263 Cupid's bow, accentuated NOT_TRANSLATED +HP:0002263 Cupid-bow shaped upper lip NOT_TRANSLATED +HP:0002263 Prominent cupid-bow of upper lip NOT_TRANSLATED +HP:0002266 Focal clonic seizures NOT_TRANSLATED +HP:0002266 Localised clonic seizure NOT_TRANSLATED +HP:0002266 Localized clonic seizure NOT_TRANSLATED +HP:0002266 Partial clonic seizure NOT_TRANSLATED +HP:0002266 Segmental clonic seizure NOT_TRANSLATED +HP:0002267 Exaggerated acoustic startle response NOT_TRANSLATED +HP:0002267 Hyperekplexia NOT_TRANSLATED +HP:0002267 Increased startle response NOT_TRANSLATED +HP:0002268 Episodic dystonia NOT_TRANSLATED +HP:0002269 Abnormal neuronal migration NOT_TRANSLATED +HP:0002269 Heterotopias/abnormal migration NOT_TRANSLATED +HP:0002269 Migrational brain disorder NOT_TRANSLATED +HP:0002269 Neuronal migration disorder NOT_TRANSLATED +HP:0002273 Quadriparesis NOT_TRANSLATED +HP:0002277 Horner's syndrome NOT_TRANSLATED +HP:0002277 Oculosympathetic palsy NOT_TRANSLATED +HP:0002280 Large cisterna magna NOT_TRANSLATED +HP:0002280 Mega cisterna magna NOT_TRANSLATED +HP:0002282 Gray matter heterotopias NOT_TRANSLATED +HP:0002282 Grey matter heterotopia NOT_TRANSLATED +HP:0002282 Grey matter heterotopias NOT_TRANSLATED +HP:0002282 Heterotopia NOT_TRANSLATED +HP:0002282 Heterotopias NOT_TRANSLATED +HP:0002282 Neuronal heterotopia NOT_TRANSLATED +HP:0002283 Diffuse brain atrophy NOT_TRANSLATED +HP:0002283 Generalised brain atrophy NOT_TRANSLATED +HP:0002283 Generalised brain degeneration NOT_TRANSLATED +HP:0002283 Generalised cerebral atrophy NOT_TRANSLATED +HP:0002283 Generalized brain atrophy NOT_TRANSLATED +HP:0002283 Generalized brain degeneration NOT_TRANSLATED +HP:0002283 Generalized cerebral atrophy NOT_TRANSLATED +HP:0002286 Blond hair NOT_TRANSLATED +HP:0002286 Fair hair color NOT_TRANSLATED +HP:0002286 Fair hair colour NOT_TRANSLATED +HP:0002286 Flaxen hair color NOT_TRANSLATED +HP:0002286 Flaxen hair colour NOT_TRANSLATED +HP:0002286 Light colored hair NOT_TRANSLATED +HP:0002286 Light coloured hair NOT_TRANSLATED +HP:0002286 Sandy hair color NOT_TRANSLATED +HP:0002286 Sandy hair colour NOT_TRANSLATED +HP:0002286 Straw colored hair NOT_TRANSLATED +HP:0002286 Straw coloured hair NOT_TRANSLATED +HP:0002286 Towhead (hair color) NOT_TRANSLATED +HP:0002289 Alopecia, complete NOT_TRANSLATED +HP:0002289 Universal alopecia NOT_TRANSLATED +HP:0002290 Patch of white hair NOT_TRANSLATED +HP:0002290 White patch NOT_TRANSLATED +HP:0002292 Male pattern baldness NOT_TRANSLATED +HP:0002293 Absence of scalp hair NOT_TRANSLATED +HP:0002293 Baldness NOT_TRANSLATED +HP:0002293 Missing scalp hair NOT_TRANSLATED +HP:0002293 Pathologic hair loss from scalp NOT_TRANSLATED +HP:0002293 Scalp hair loss NOT_TRANSLATED +HP:0002297 Ginger hair color NOT_TRANSLATED +HP:0002297 Ginger hair colour NOT_TRANSLATED +HP:0002297 Red hair color NOT_TRANSLATED +HP:0002297 Red hair colour NOT_TRANSLATED +HP:0002297 Red head (hair color) NOT_TRANSLATED +HP:0002299 Easily breakable hair NOT_TRANSLATED +HP:0002299 Fractured hair NOT_TRANSLATED +HP:0002299 Fragile hair NOT_TRANSLATED +HP:0002299 Reduced tensile strength of hair NOT_TRANSLATED +HP:0002300 Inability to speak NOT_TRANSLATED +HP:0002300 Muteness NOT_TRANSLATED +HP:0002301 Paralysis on one side of body NOT_TRANSLATED +HP:0002305 Athetoid movements NOT_TRANSLATED +HP:0002305 Involuntary writhing movements NOT_TRANSLATED +HP:0002305 Involuntary writhing movements in fingers, hands, toes, and feet NOT_TRANSLATED +HP:0002307 Dribbling NOT_TRANSLATED +HP:0002307 Sialorrhea NOT_TRANSLATED +HP:0002308 Arnold-Chiari malformation NOT_TRANSLATED +HP:0002310 Orofacial dyskinesias NOT_TRANSLATED +HP:0002311 Difficulties in coordination NOT_TRANSLATED +HP:0002311 Incoordination of limb movements NOT_TRANSLATED +HP:0002311 Limb incoordination NOT_TRANSLATED +HP:0002314 Degeneration of lateral corticospinal tracts NOT_TRANSLATED +HP:0002315 Headaches NOT_TRANSLATED +HP:0002317 Gait instability NOT_TRANSLATED +HP:0002317 Unsteady walk NOT_TRANSLATED +HP:0002321 Dizziness NOT_TRANSLATED +HP:0002321 Dizzy spell NOT_TRANSLATED +HP:0002322 Parkinsonian tremor NOT_TRANSLATED +HP:0002322 Rest tremor NOT_TRANSLATED +HP:0002322 Tremor at rest NOT_TRANSLATED +HP:0002323 Embryonic anencephaly NOT_TRANSLATED +HP:0002323 Fetal anencephaly NOT_TRANSLATED +HP:0002323 Foetal anencephaly NOT_TRANSLATED +HP:0002324 Hydrancephaly NOT_TRANSLATED +HP:0002326 Mini stroke NOT_TRANSLATED +HP:0002326 TIA NOT_TRANSLATED +HP:0002326 Transient ischaemic attack NOT_TRANSLATED +HP:0002326 Transient ischaemic attacks NOT_TRANSLATED +HP:0002326 Transient ischemic attacks NOT_TRANSLATED +HP:0002329 Sleepy NOT_TRANSLATED +HP:0002333 Progressive degeneration of movement NOT_TRANSLATED +HP:0002334 Abnormality of the cerebellar vermis NOT_TRANSLATED +HP:0002335 Cerebellar vermis aplasia NOT_TRANSLATED +HP:0002335 Vermian agenesis NOT_TRANSLATED +HP:0002339 Abnormality of the caudate nucleus NOT_TRANSLATED +HP:0002340 Caudate degeneration NOT_TRANSLATED +HP:0002341 Cervical cord compression myelopathy NOT_TRANSLATED +HP:0002342 Matige mentale retardatie CANDIDATE +HP:0002342 Mentale retardatie, matig CANDIDATE +HP:0002343 Normal-pressure hydrocephalus NOT_TRANSLATED +HP:0002344 Neurologic deterioration NOT_TRANSLATED +HP:0002344 Neurologic deterioration, progressive NOT_TRANSLATED +HP:0002344 Progressive mental deterioration NOT_TRANSLATED +HP:0002344 Progressive neurodegeneration NOT_TRANSLATED +HP:0002344 Worsening neurological symptoms NOT_TRANSLATED +HP:0002345 Ataxic tremor NOT_TRANSLATED +HP:0002349 Focal aware seizures NOT_TRANSLATED +HP:0002349 Focal seizure with retained awareness NOT_TRANSLATED +HP:0002349 Focal seizure without impairment of awareness NOT_TRANSLATED +HP:0002349 Focal seizure without impairment of consciousness or awareness NOT_TRANSLATED +HP:0002349 Focal seizures without impairment of consciousness or awareness NOT_TRANSLATED +HP:0002349 Partial seizure with retained awareness NOT_TRANSLATED +HP:0002349 Partial seizure without impairment of awareness NOT_TRANSLATED +HP:0002349 Simple partial seizure NOT_TRANSLATED +HP:0002349 Simple partial seizures NOT_TRANSLATED +HP:0002350 Cerebellar cysts NOT_TRANSLATED +HP:0002353 Abnormal EEG NOT_TRANSLATED +HP:0002353 Abnormal electroencephalogram NOT_TRANSLATED +HP:0002353 EEG abnormalities NOT_TRANSLATED +HP:0002353 Electroencephalogram abnormal NOT_TRANSLATED +HP:0002353 Electroencephalogram abnormalities NOT_TRANSLATED +HP:0002354 Forgetfulness NOT_TRANSLATED +HP:0002354 Memory loss NOT_TRANSLATED +HP:0002354 Memory problems NOT_TRANSLATED +HP:0002354 Poor memory NOT_TRANSLATED +HP:0002355 Difficulty in walking NOT_TRANSLATED +HP:0002355 Walking disability NOT_TRANSLATED +HP:0002360 Difficulty sleeping NOT_TRANSLATED +HP:0002360 Sleep disturbances NOT_TRANSLATED +HP:0002360 Sleep dysfunction NOT_TRANSLATED +HP:0002360 Trouble sleeping NOT_TRANSLATED +HP:0002361 Psychomotor degeneration NOT_TRANSLATED +HP:0002362 Shuffled walk NOT_TRANSLATED +HP:0002363 Abnormal shape of brainstem NOT_TRANSLATED +HP:0002363 Abnormality of brainstem morphology NOT_TRANSLATED +HP:0002363 Abnormality of the brainstem NOT_TRANSLATED +HP:0002365 Brainstem hypoplasia NOT_TRANSLATED +HP:0002365 Hypoplastic brain stem NOT_TRANSLATED +HP:0002365 Hypoplastic brainstem NOT_TRANSLATED +HP:0002365 Small brainstem NOT_TRANSLATED +HP:0002365 Underdeveloped brainstem NOT_TRANSLATED +HP:0002366 Lower motor neuron disease NOT_TRANSLATED +HP:0002366 Lower motor neuron manifestations NOT_TRANSLATED +HP:0002366 Lower motor neuron signs NOT_TRANSLATED +HP:0002373 Febrile convulsion NOT_TRANSLATED +HP:0002373 Febrile seizures NOT_TRANSLATED +HP:0002373 Fever induced seizures NOT_TRANSLATED +HP:0002373 Seizures, febrile, in early childhood NOT_TRANSLATED +HP:0002373 Seizures, generalized, associated with fever NOT_TRANSLATED +HP:0002375 Decreased muscle movement NOT_TRANSLATED +HP:0002375 Decreased spontaneous movement NOT_TRANSLATED +HP:0002375 Decreased spontaneous movements NOT_TRANSLATED +HP:0002376 Loss of developmental milestones NOT_TRANSLATED +HP:0002376 Mental deterioration in childhood NOT_TRANSLATED +HP:0002376 Neurodevelopmental regression NOT_TRANSLATED +HP:0002376 Psychomotor regression NOT_TRANSLATED +HP:0002376 Psychomotor regression beginning in infancy NOT_TRANSLATED +HP:0002376 Psychomotor regression in infants NOT_TRANSLATED +HP:0002376 Psychomotor regression, progressive NOT_TRANSLATED +HP:0002378 Tremor of hand NOT_TRANSLATED +HP:0002378 Tremor of hands NOT_TRANSLATED +HP:0002378 tremors in hands NOT_TRANSLATED +HP:0002380 Fasciculation NOT_TRANSLATED +HP:0002380 Muscle fasciculation NOT_TRANSLATED +HP:0002380 Muscle twitch NOT_TRANSLATED +HP:0002381 Difficulty finding words NOT_TRANSLATED +HP:0002381 Losing words NOT_TRANSLATED +HP:0002381 Loss of words NOT_TRANSLATED +HP:0002383 Brain inflammation NOT_TRANSLATED +HP:0002384 Complex focal seizures NOT_TRANSLATED +HP:0002384 Complex partial seizure NOT_TRANSLATED +HP:0002384 Complex partial seizures NOT_TRANSLATED +HP:0002384 Dyscognitive seizures NOT_TRANSLATED +HP:0002384 Focal dyscognitive seizure NOT_TRANSLATED +HP:0002384 Focal impaired awareness seizures NOT_TRANSLATED +HP:0002384 Focal seizure with impairment of awareness NOT_TRANSLATED +HP:0002384 Focal seizure with loss of awareness NOT_TRANSLATED +HP:0002384 Focal seizures with impairment of consciousness or awareness NOT_TRANSLATED +HP:0002384 Localised dyscognitive seizure NOT_TRANSLATED +HP:0002384 Localised seizure with impaired awareness NOT_TRANSLATED +HP:0002384 Localised seizure with loss of awareness NOT_TRANSLATED +HP:0002384 Localized dyscognitive seizure NOT_TRANSLATED +HP:0002384 Localized seizure with impaired awareness NOT_TRANSLATED +HP:0002384 Localized seizure with loss of awareness NOT_TRANSLATED +HP:0002384 Partial dyscognitive seizure NOT_TRANSLATED +HP:0002384 Partial seizure with impairment of awareness NOT_TRANSLATED +HP:0002384 Partial seizure with loss of awareness NOT_TRANSLATED +HP:0002385 Partial paralysis of legs NOT_TRANSLATED +HP:0002389 Large cavum septi pellucidi NOT_TRANSLATED +HP:0002389 Persistent cavum septum pellucidum NOT_TRANSLATED +HP:0002389 Widened cavum septum pellucidum NOT_TRANSLATED +HP:0002392 EEG: spike and multispike waves, 3-4 hz NOT_TRANSLATED +HP:0002395 Brisk lower extremity reflexes NOT_TRANSLATED +HP:0002395 Hyperreflexia in lower limbs NOT_TRANSLATED +HP:0002395 Hyperreflexia in the lower limbs NOT_TRANSLATED +HP:0002395 Increased deep tendon reflexes in the lower limbs NOT_TRANSLATED +HP:0002395 Leg hyperreflexia NOT_TRANSLATED +HP:0002395 Overactive lower leg reflex NOT_TRANSLATED +HP:0002398 Anterior horn cell loss NOT_TRANSLATED +HP:0002398 Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord NOT_TRANSLATED +HP:0002398 Degeneration of spinal cord anterior horn cells NOT_TRANSLATED +HP:0002398 Loss of spinal cord anterior horn cells NOT_TRANSLATED +HP:0002398 Progressive loss of anterior horn cells NOT_TRANSLATED +HP:0002398 Spinal cord anterior horn cell degeneration NOT_TRANSLATED +HP:0002401 Stroke-like episodes NOT_TRANSLATED +HP:0002401 Strokelike episodes NOT_TRANSLATED +HP:0002404 Thick cerebellar peduncles NOT_TRANSLATED +HP:0002406 Uncoordinated limb movement NOT_TRANSLATED +HP:0002408 Cerebral AV malformation NOT_TRANSLATED +HP:0002410 Aqueduct of Sylvius stenosis NOT_TRANSLATED +HP:0002410 Aqueduct stenosis NOT_TRANSLATED +HP:0002410 Narrowing of aqueduct of Sylvius NOT_TRANSLATED +HP:0002414 Split spine NOT_TRANSLATED +HP:0002415 Degeneration of white matter of brain NOT_TRANSLATED +HP:0002416 Subependymal germinolytic cyst NOT_TRANSLATED +HP:0002416 Subependymal pseudocyst NOT_TRANSLATED +HP:0002418 Abnormal shape of midbrain NOT_TRANSLATED +HP:0002418 Abnormality of midbrain morphology NOT_TRANSLATED +HP:0002418 Abnormality of the mesencephalon NOT_TRANSLATED +HP:0002418 Abnormality of the midbrain NOT_TRANSLATED +HP:0002419 Molar tooth sign NOT_TRANSLATED +HP:0002419 Molar tooth sign on brain imaging NOT_TRANSLATED +HP:0002419 Molar tooth sign on imaging NOT_TRANSLATED +HP:0002423 Long tract signs NOT_TRANSLATED +HP:0002425 Loss of articulate speech NOT_TRANSLATED +HP:0002427 Broca's aphasia NOT_TRANSLATED +HP:0002427 Loss of expressive speech NOT_TRANSLATED +HP:0002427 Motor aphasia NOT_TRANSLATED +HP:0002427 Non-fluent aphasia NOT_TRANSLATED +HP:0002442 Difficulty making arithmetical calculations NOT_TRANSLATED +HP:0002445 Paralysis of all four limbs NOT_TRANSLATED +HP:0002445 Quadriplegia NOT_TRANSLATED +HP:0002446 Increase in astrocyte number NOT_TRANSLATED +HP:0002448 Progressive brain disease NOT_TRANSLATED +HP:0002450 Abnormal shape of motor neuron NOT_TRANSLATED +HP:0002460 Distal limb muscle weakness NOT_TRANSLATED +HP:0002460 Distal limb muscle weakness due to peripheral neuropathy NOT_TRANSLATED +HP:0002460 Distal limb weakness NOT_TRANSLATED +HP:0002460 Distal muscular weakness NOT_TRANSLATED +HP:0002460 Distal paresis NOT_TRANSLATED +HP:0002460 Muscle weakness, distal NOT_TRANSLATED +HP:0002460 Muscle weakness, distal limbs, due to neuronopathy NOT_TRANSLATED +HP:0002460 Weakness of distal muscles NOT_TRANSLATED +HP:0002460 Weakness of outermost muscles NOT_TRANSLATED +HP:0002463 Language disorder NOT_TRANSLATED +HP:0002464 Rigid dysarthria NOT_TRANSLATED +HP:0002465 Difficulty speaking NOT_TRANSLATED +HP:0002465 Problems speaking NOT_TRANSLATED +HP:0002472 Decreased volume of cerebral cortex NOT_TRANSLATED +HP:0002474 Communication delay NOT_TRANSLATED +HP:0002474 Deficit in expressive language NOT_TRANSLATED +HP:0002475 Meningomyelocele NOT_TRANSLATED +HP:0002475 Spina bifida cystica NOT_TRANSLATED +HP:0002476 Archaic reflex NOT_TRANSLATED +HP:0002476 Primitive reflexes NOT_TRANSLATED +HP:0002478 Progressive spastic quadriparesis NOT_TRANSLATED +HP:0002486 Delayed relaxation of muscle fibers after contraction NOT_TRANSLATED +HP:0002486 Delayed relaxation of muscle fibres after contraction NOT_TRANSLATED +HP:0002487 Hyperkinesia NOT_TRANSLATED +HP:0002487 Hyperkinesis NOT_TRANSLATED +HP:0002487 Muscle spasms NOT_TRANSLATED +HP:0002488 Acute blood cancer NOT_TRANSLATED +HP:0002488 Acute leukaemia NOT_TRANSLATED +HP:0002488 Acute leukemias NOT_TRANSLATED +HP:0002490 Hyperlactatorachia NOT_TRANSLATED +HP:0002490 Increased CSF lactic acid NOT_TRANSLATED +HP:0002490 Increased cerebrospinal fluid lactate NOT_TRANSLATED +HP:0002491 Increased stiffness of facial muscles NOT_TRANSLATED +HP:0002491 Increased tone of facial muscles NOT_TRANSLATED +HP:0002491 Spasticity of the facial muscles NOT_TRANSLATED +HP:0002492 Abnormality of the corticospinal tract NOT_TRANSLATED +HP:0002492 Involvement of the corticospinal pathways NOT_TRANSLATED +HP:0002493 Corticospinal tract dysfunction NOT_TRANSLATED +HP:0002493 Pyramidal tract dysfunction NOT_TRANSLATED +HP:0002494 Abnormal REM sleep NOT_TRANSLATED +HP:0002495 Decreased vibration sense NOT_TRANSLATED +HP:0002495 Decreased vibratory sense NOT_TRANSLATED +HP:0002495 Diminished vibratory sense NOT_TRANSLATED +HP:0002495 Hypopallesthesia NOT_TRANSLATED +HP:0002495 Impaired vibratory sense NOT_TRANSLATED +HP:0002500 Abnormality of subcortical white matter NOT_TRANSLATED +HP:0002500 Abnormality of the cerebral white matter NOT_TRANSLATED +HP:0002500 Cerebral white matter abnormalities NOT_TRANSLATED +HP:0002500 Cortical white matter abnormalities seen on MRI NOT_TRANSLATED +HP:0002500 Leukoaraiosis NOT_TRANSLATED +HP:0002500 White matter abnormalities NOT_TRANSLATED +HP:0002500 White matter alterations NOT_TRANSLATED +HP:0002503 Degeneration of the spinocerebellar tracts NOT_TRANSLATED +HP:0002503 Spinocerebellar degeneration NOT_TRANSLATED +HP:0002505 Loss of ability to walk NOT_TRANSLATED +HP:0002506 Cerebral atrophy, diffuse NOT_TRANSLATED +HP:0002508 Brainstem hypoplasia/dysplasia NOT_TRANSLATED +HP:0002508 Malformation of brainstem structures NOT_TRANSLATED +HP:0002509 Increased muscle tone of arm or leg NOT_TRANSLATED +HP:0002510 Spastic quadriplegia NOT_TRANSLATED +HP:0002511 Late-onset form of familial Alzheimer disease NOT_TRANSLATED +HP:0002514 Abnormal deposits of calcium in the brain NOT_TRANSLATED +HP:0002514 Brain calcification NOT_TRANSLATED +HP:0002514 Intracerebral calcifications NOT_TRANSLATED +HP:0002514 Intracranial calcification NOT_TRANSLATED +HP:0002514 Intracranial calcifications NOT_TRANSLATED +HP:0002515 Waddling walk NOT_TRANSLATED +HP:0002516 Intracranial hypertension NOT_TRANSLATED +HP:0002516 Intracranial pressure elevation NOT_TRANSLATED +HP:0002516 Pseudotumor cerebri NOT_TRANSLATED +HP:0002516 Rise in pressure inside skull NOT_TRANSLATED +HP:0002518 Abnormality of the periventricular white matter NOT_TRANSLATED +HP:0002518 Periventricular white matter abnormalities NOT_TRANSLATED +HP:0002521 Hypsarrhythmia by EEG NOT_TRANSLATED +HP:0002522 Absent lower limb tendon reflexes NOT_TRANSLATED +HP:0002522 Areflexia in lower limbs NOT_TRANSLATED +HP:0002522 Areflexia of the lower limbs NOT_TRANSLATED +HP:0002522 Areflexia, lower limbs NOT_TRANSLATED +HP:0002529 Loss of brain cells NOT_TRANSLATED +HP:0002529 Neuronal loss NOT_TRANSLATED +HP:0002529 Neuronal loss in CNS NOT_TRANSLATED +HP:0002530 Truncal dystonia NOT_TRANSLATED +HP:0002536 Abnormal gyration NOT_TRANSLATED +HP:0002536 Cerebral gyral anomalies NOT_TRANSLATED +HP:0002536 Gyral disorganization NOT_TRANSLATED +HP:0002538 Abnormality of the cerebral cortex NOT_TRANSLATED +HP:0002539 Neocortical dysplasia NOT_TRANSLATED +HP:0002540 Non-ambulatory NOT_TRANSLATED +HP:0002542 Olivopontocerebellar degeneration NOT_TRANSLATED +HP:0002548 Favorable response to levodopa NOT_TRANSLATED +HP:0002548 Favourable response to levodopa NOT_TRANSLATED +HP:0002548 Parkinsonism with favourable response to dopaminergic medication NOT_TRANSLATED +HP:0002549 Deficit in non-word repetition NOT_TRANSLATED +HP:0002549 Impaired non-word repetition NOT_TRANSLATED +HP:0002552 Generalised trichodysplasia NOT_TRANSLATED +HP:0002552 Generalized trichodysplasia NOT_TRANSLATED +HP:0002553 Arched eyebrows NOT_TRANSLATED +HP:0002553 Bowed and upward slanting eyebrows NOT_TRANSLATED +HP:0002553 Broad, arched eyebrows NOT_TRANSLATED +HP:0002553 High arched eyebrows NOT_TRANSLATED +HP:0002553 High, rounded eyebrows NOT_TRANSLATED +HP:0002553 High-arched eyebrows NOT_TRANSLATED +HP:0002553 Thick, flared eyebrows NOT_TRANSLATED +HP:0002557 Nipple hypoplasia NOT_TRANSLATED +HP:0002557 Small nipples NOT_TRANSLATED +HP:0002558 Accessory nipple NOT_TRANSLATED +HP:0002558 Accessory nipples NOT_TRANSLATED +HP:0002558 Increased nipple number NOT_TRANSLATED +HP:0002558 Supernumerary nipples NOT_TRANSLATED +HP:0002558 accessory mamilla NOT_TRANSLATED +HP:0002558 accessory mamillas NOT_TRANSLATED +HP:0002561 Absent nipples NOT_TRANSLATED +HP:0002561 Athelia NOT_TRANSLATED +HP:0002566 Gut malrotation NOT_TRANSLATED +HP:0002566 Malrotation NOT_TRANSLATED +HP:0002570 Fat in faeces NOT_TRANSLATED +HP:0002570 Fat in feces NOT_TRANSLATED +HP:0002570 Fatty stool NOT_TRANSLATED +HP:0002570 Greasy stools NOT_TRANSLATED +HP:0002571 Achalasia of the esophagus NOT_TRANSLATED +HP:0002571 Achalasia of the oesophagus NOT_TRANSLATED +HP:0002572 Frequent vomiting NOT_TRANSLATED +HP:0002573 Rectal bleeding NOT_TRANSLATED +HP:0002573 Recurrent rectal bleeding NOT_TRANSLATED +HP:0002574 Intermittent abdominal pain NOT_TRANSLATED +HP:0002575 Abnormal connection between trachea and esophagus NOT_TRANSLATED +HP:0002575 Abnormal connection between trachea and oesophagus NOT_TRANSLATED +HP:0002577 Abnormality of the stomach NOT_TRANSLATED +HP:0002578 Delayed gastric emptying NOT_TRANSLATED +HP:0002579 GI dysmotility NOT_TRANSLATED +HP:0002582 Chronic atrophic gastritis NOT_TRANSLATED +HP:0002584 Intestinal haemorrhage NOT_TRANSLATED +HP:0002584 Intestinal hemorrhage NOT_TRANSLATED +HP:0002586 Inflammation of the peritoneum NOT_TRANSLATED +HP:0002589 GI atresia NOT_TRANSLATED +HP:0002591 Hyperphagia NOT_TRANSLATED +HP:0002591 Increased appetite NOT_TRANSLATED +HP:0002591 Voracious appetite NOT_TRANSLATED +HP:0002592 Stomach ulcer NOT_TRANSLATED +HP:0002594 Hypoplastic pancreas NOT_TRANSLATED +HP:0002594 Underdeveloped pancreas NOT_TRANSLATED +HP:0002595 Gastrointestinal atony NOT_TRANSLATED +HP:0002597 Abnormality of blood vessels NOT_TRANSLATED +HP:0002597 Vascular abnormalities NOT_TRANSLATED +HP:0002600 Hyporeflexia in lower limbs NOT_TRANSLATED +HP:0002600 Hyporeflexia of the lower limbs NOT_TRANSLATED +HP:0002600 Hyporeflexia, lower limbs NOT_TRANSLATED +HP:0002600 Hyporeflexia/areflexia in lower limbs NOT_TRANSLATED +HP:0002604 GI telangiectasia NOT_TRANSLATED +HP:0002604 Small, enlarged blood vessels near skin NOT_TRANSLATED +HP:0002607 Anal incontinence NOT_TRANSLATED +HP:0002607 Faecal incontinence NOT_TRANSLATED +HP:0002607 Fecal incontinence NOT_TRANSLATED +HP:0002607 Loss of bowel control NOT_TRANSLATED +HP:0002608 Celiac sprue NOT_TRANSLATED +HP:0002608 Coeliac disease NOT_TRANSLATED +HP:0002608 Coeliac sprue NOT_TRANSLATED +HP:0002612 Congenital liver fibrosis NOT_TRANSLATED +HP:0002612 Excessive buildup of connective tissue and scarring of liver at birth NOT_TRANSLATED +HP:0002613 Primary biliary cirrhosis NOT_TRANSLATED +HP:0002615 Arterial hypotension NOT_TRANSLATED +HP:0002615 Low blood pressure NOT_TRANSLATED +HP:0002616 Aortic root dilatation NOT_TRANSLATED +HP:0002616 Bulge in wall of root of large artery that carries blood away from heart NOT_TRANSLATED +HP:0002616 Increased aortic root diameter NOT_TRANSLATED +HP:0002617 Aneurysm NOT_TRANSLATED +HP:0002617 Aneurysmal dilatation NOT_TRANSLATED +HP:0002617 Aneurysmal disease NOT_TRANSLATED +HP:0002617 Aneurysms NOT_TRANSLATED +HP:0002617 Wider than typical opening or gap NOT_TRANSLATED +HP:0002621 Atherosclerotic cardiovascular disease NOT_TRANSLATED +HP:0002621 Narrowing and hardening of arteries NOT_TRANSLATED +HP:0002621 Plaque build-up in arteries NOT_TRANSLATED +HP:0002623 Dextroposition of aorta NOT_TRANSLATED +HP:0002623 Overriding aortic valve NOT_TRANSLATED +HP:0002624 Abnormal vein NOT_TRANSLATED +HP:0002624 Venous abnormality NOT_TRANSLATED +HP:0002625 Blood clot in a deep vein NOT_TRANSLATED +HP:0002625 Deep vein thrombosis NOT_TRANSLATED +HP:0002625 Multiple deep venous thrombosis NOT_TRANSLATED +HP:0002626 Venous varicosities of coeliac and mesenteric vessels NOT_TRANSLATED +HP:0002629 GI arteriovenous malformation NOT_TRANSLATED +HP:0002632 Low-to-normal BP NOT_TRANSLATED +HP:0002633 Angiitis NOT_TRANSLATED +HP:0002633 Inflammation of blood vessel NOT_TRANSLATED +HP:0002634 Hardened artery wall NOT_TRANSLATED +HP:0002635 Atheromatosis NOT_TRANSLATED +HP:0002636 Aneurysm of an abdominal artery NOT_TRANSLATED +HP:0002637 Brain ischemia NOT_TRANSLATED +HP:0002637 Cerebrovascular ischemia NOT_TRANSLATED +HP:0002637 Disruption of blood oxygen supply to brain NOT_TRANSLATED +HP:0002641 Peripheral blood clot NOT_TRANSLATED +HP:0002642 Arteriovenous fistulas of coeliac and mesenteric vessels NOT_TRANSLATED +HP:0002643 Infantile respiratory distress NOT_TRANSLATED +HP:0002643 Newborn respiratory distress NOT_TRANSLATED +HP:0002643 Respiratory distress, neonatal NOT_TRANSLATED +HP:0002644 Abnormal shape of pelvic girdle bone NOT_TRANSLATED +HP:0002644 Abnormality of pelvic girdle bone morphology NOT_TRANSLATED +HP:0002644 Abnormality of the pelvic girdle NOT_TRANSLATED +HP:0002645 Extra bones within cranial sutures NOT_TRANSLATED +HP:0002645 Intra sutural bones NOT_TRANSLATED +HP:0002645 Intrasutural bones NOT_TRANSLATED +HP:0002645 Islands of bone within cranial sutures NOT_TRANSLATED +HP:0002647 Tear in inner wall of large artery that carries blood away from heart NOT_TRANSLATED +HP:0002652 Abnormal skeletal development NOT_TRANSLATED +HP:0002655 Spondyloepiphyseal dysplasia tarda NOT_TRANSLATED +HP:0002656 Abnormal development of end part of bone NOT_TRANSLATED +HP:0002656 Abnormal development of the ends of long bones in arms and legs NOT_TRANSLATED +HP:0002659 Abnormal susceptibility to fractures NOT_TRANSLATED +HP:0002659 Bone fragility NOT_TRANSLATED +HP:0002659 Frequent broken bones NOT_TRANSLATED +HP:0002659 Increased bone fragility NOT_TRANSLATED +HP:0002659 Increased tendency to fractures NOT_TRANSLATED +HP:0002663 Delayed epiphyseal maturation NOT_TRANSLATED +HP:0002663 Delayed maturation of end part of long bone NOT_TRANSLATED +HP:0002663 Delayed opacification of the epiphyses NOT_TRANSLATED +HP:0002663 Epiphyseal ossification delay NOT_TRANSLATED +HP:0002664 Abnormal tissue mass NOT_TRANSLATED +HP:0002664 Cancer NOT_TRANSLATED +HP:0002664 Neoplasia NOT_TRANSLATED +HP:0002664 Oncological abnormality NOT_TRANSLATED +HP:0002664 Oncology NOT_TRANSLATED +HP:0002664 Tumor NOT_TRANSLATED +HP:0002664 Tumour NOT_TRANSLATED +HP:0002665 Cancer of lymphatic system NOT_TRANSLATED +HP:0002666 Chromaffin tumors NOT_TRANSLATED +HP:0002666 Chromaffin tumours NOT_TRANSLATED +HP:0002667 Wilm's tumor NOT_TRANSLATED +HP:0002667 Wilm's tumour NOT_TRANSLATED +HP:0002667 Wilms tumor NOT_TRANSLATED +HP:0002667 Wilms tumour NOT_TRANSLATED +HP:0002668 Carotid body tumors NOT_TRANSLATED +HP:0002668 Carotid body tumours NOT_TRANSLATED +HP:0002668 Paragangliomas NOT_TRANSLATED +HP:0002669 Bone cell cancer NOT_TRANSLATED +HP:0002669 Osteogenic sarcoma NOT_TRANSLATED +HP:0002671 Basal cell carcinomas NOT_TRANSLATED +HP:0002671 Basal cell epithelioma NOT_TRANSLATED +HP:0002671 Basal cell nevus NOT_TRANSLATED +HP:0002671 Basalioma NOT_TRANSLATED +HP:0002672 GI carcinoma NOT_TRANSLATED +HP:0002673 Coxa valga deformity NOT_TRANSLATED +HP:0002673 Valgus hip NOT_TRANSLATED +HP:0002676 Cloverleaf cranium shape NOT_TRANSLATED +HP:0002676 Cloverleaf skull shape NOT_TRANSLATED +HP:0002676 Kleeblattschaedel NOT_TRANSLATED +HP:0002676 Trilobar cranium shape NOT_TRANSLATED +HP:0002676 Trilobar skull shape NOT_TRANSLATED +HP:0002677 Foramen magnum stenosis NOT_TRANSLATED +HP:0002677 Hypoplasia of foramen magnum NOT_TRANSLATED +HP:0002677 Little foramen magnum NOT_TRANSLATED +HP:0002677 Narrow foramen magnum NOT_TRANSLATED +HP:0002677 Stenosis of foramen magnum NOT_TRANSLATED +HP:0002678 Abnormality of skull shape NOT_TRANSLATED +HP:0002678 Asymmetry of skull NOT_TRANSLATED +HP:0002678 Malformation of skull shape NOT_TRANSLATED +HP:0002678 Unequal skull shape NOT_TRANSLATED +HP:0002678 Uneven skull shape NOT_TRANSLATED +HP:0002679 Abnormality of the hypophysial fossa NOT_TRANSLATED +HP:0002679 Abnormality of the pituitary fossa NOT_TRANSLATED +HP:0002679 Abnormality of the sella turcica NOT_TRANSLATED +HP:0002679 Anomaly of the hypophysial fossa NOT_TRANSLATED +HP:0002679 Anomaly of the pituitary fossa NOT_TRANSLATED +HP:0002679 Anomaly of the sella turcica NOT_TRANSLATED +HP:0002680 Hour glass shaped hypophysial fossa NOT_TRANSLATED +HP:0002680 Hour glass shaped pituitary fossa NOT_TRANSLATED +HP:0002680 Hour glass shaped sella turcica NOT_TRANSLATED +HP:0002680 J-shaped hypophysial fossa NOT_TRANSLATED +HP:0002680 J-shaped pituitary fossa NOT_TRANSLATED +HP:0002680 J-shaped sella NOT_TRANSLATED +HP:0002680 Omega shaped hypophysial fossa NOT_TRANSLATED +HP:0002680 Omega shaped pituitary fossa NOT_TRANSLATED +HP:0002680 Omega shaped sella turcica NOT_TRANSLATED +HP:0002681 Abnormal shape of hypophysial fossa NOT_TRANSLATED +HP:0002681 Abnormal shape of pituitary fossa NOT_TRANSLATED +HP:0002681 Abnormal shape of sella turcica NOT_TRANSLATED +HP:0002681 Deformity of hypophysial fossa NOT_TRANSLATED +HP:0002681 Deformity of pituitary fossa NOT_TRANSLATED +HP:0002681 Malformation of hypophysial fossa NOT_TRANSLATED +HP:0002681 Malformation of pituitary fossa NOT_TRANSLATED +HP:0002681 Malformation of sella turcica NOT_TRANSLATED +HP:0002682 Broad cranium NOT_TRANSLATED +HP:0002682 Increased width of cranium NOT_TRANSLATED +HP:0002682 Increased width of skull NOT_TRANSLATED +HP:0002682 Wide cranium NOT_TRANSLATED +HP:0002682 Wide skull NOT_TRANSLATED +HP:0002683 Abnormality of calvarium NOT_TRANSLATED +HP:0002683 Abnormality of cranial vault NOT_TRANSLATED +HP:0002683 Abnormality of cranium NOT_TRANSLATED +HP:0002683 Abnormality of the calvaria NOT_TRANSLATED +HP:0002683 Abnormality of the shape of calvarium NOT_TRANSLATED +HP:0002683 Abnormality of the skull cap NOT_TRANSLATED +HP:0002683 Abnormality of the skullcap NOT_TRANSLATED +HP:0002684 Calvarial thickening NOT_TRANSLATED +HP:0002684 Calvarium thickened NOT_TRANSLATED +HP:0002684 Increased calvarial thickness NOT_TRANSLATED +HP:0002684 Increased thickness of calvaria NOT_TRANSLATED +HP:0002684 Increased thickness of calvarium NOT_TRANSLATED +HP:0002684 Increased thickness of cranial vault NOT_TRANSLATED +HP:0002684 Increased thickness of cranium NOT_TRANSLATED +HP:0002684 Increased thickness of skull cap NOT_TRANSLATED +HP:0002684 Thick calvaria NOT_TRANSLATED +HP:0002684 Thick calvarium NOT_TRANSLATED +HP:0002684 Thickened calvarium NOT_TRANSLATED +HP:0002684 Thickened cranial vault NOT_TRANSLATED +HP:0002684 Thickened cranium NOT_TRANSLATED +HP:0002684 Thickened skull cap NOT_TRANSLATED +HP:0002684 Thickening of the calvaria NOT_TRANSLATED +HP:0002686 Maternal health problem NOT_TRANSLATED +HP:0002687 Abnormality of sinus frontalis NOT_TRANSLATED +HP:0002687 Abnormality of the forehead sinus NOT_TRANSLATED +HP:0002688 Absence of frontal sinuses NOT_TRANSLATED +HP:0002688 Absent frontal sinus NOT_TRANSLATED +HP:0002688 Aplasia of frontal sinus NOT_TRANSLATED +HP:0002688 Aplasia sinus frontalis NOT_TRANSLATED +HP:0002688 Missing frontal sinus NOT_TRANSLATED +HP:0002689 Absence of paranasal sinuses NOT_TRANSLATED +HP:0002689 Aplasia of paranasal sinuses NOT_TRANSLATED +HP:0002689 Missing paranasal sinuses NOT_TRANSLATED +HP:0002689 Missing sinuses NOT_TRANSLATED +HP:0002690 Big sella turcica NOT_TRANSLATED +HP:0002690 Enlarged sella turcica NOT_TRANSLATED +HP:0002690 Hyperplasia of hypophysial fossa NOT_TRANSLATED +HP:0002690 Hyperplasia of pituitary fossa NOT_TRANSLATED +HP:0002690 Hyperplasia of sella turcica NOT_TRANSLATED +HP:0002690 Large hypophysial fossa NOT_TRANSLATED +HP:0002690 Large pituitary fossa NOT_TRANSLATED +HP:0002690 Prominent sella turcica NOT_TRANSLATED +HP:0002691 Flattening of the skull base NOT_TRANSLATED +HP:0002691 Increased basal angle of skull base NOT_TRANSLATED +HP:0002691 Obtuse basal angle of skull base NOT_TRANSLATED +HP:0002692 Decreased size of facial bones NOT_TRANSLATED +HP:0002692 Decreased size of facial skeleton NOT_TRANSLATED +HP:0002692 Flattening of facial bones NOT_TRANSLATED +HP:0002692 Flattening of facial skeleton NOT_TRANSLATED +HP:0002692 Hypoplasia of facial skeleton NOT_TRANSLATED +HP:0002692 Hypotrophic facial bones NOT_TRANSLATED +HP:0002692 Hypotrophic facial skeleton NOT_TRANSLATED +HP:0002692 Small facial bones NOT_TRANSLATED +HP:0002692 Small facial skeleton NOT_TRANSLATED +HP:0002692 Underdevelopment of facial bones NOT_TRANSLATED +HP:0002692 Underdevelopment of facial skeleton NOT_TRANSLATED +HP:0002693 Abnormality of cranial base NOT_TRANSLATED +HP:0002694 Dense bone of skull base NOT_TRANSLATED +HP:0002694 HyperCalcification of skull base NOT_TRANSLATED +HP:0002694 HyperMineralization of skull base NOT_TRANSLATED +HP:0002694 Hyperossification of skull base NOT_TRANSLATED +HP:0002694 Hyperostosis of skull base NOT_TRANSLATED +HP:0002694 Marked sclerosis of skull base NOT_TRANSLATED +HP:0002694 Sclerosis of cranial base NOT_TRANSLATED +HP:0002694 Sclerosis of the skull base NOT_TRANSLATED +HP:0002694 Sclerotic skull base NOT_TRANSLATED +HP:0002696 Abnormality of the parietal bone NOT_TRANSLATED +HP:0002696 Abnormality of the parietal bone of skull NOT_TRANSLATED +HP:0002697 Holes in parietal bones NOT_TRANSLATED +HP:0002697 Openings in parietal bones NOT_TRANSLATED +HP:0002697 Persistent foramina of the parietal bones NOT_TRANSLATED +HP:0002697 Symmetrical, oval defects in the parietal bone NOT_TRANSLATED +HP:0002697 Symmetrical, oval parietal bone defects NOT_TRANSLATED +HP:0002699 Abnormality of the foramen magnum NOT_TRANSLATED +HP:0002700 Big foramen magnum NOT_TRANSLATED +HP:0002700 Dilation of foramen magnum NOT_TRANSLATED +HP:0002700 Enlarged foramen magnum NOT_TRANSLATED +HP:0002700 Increased circumference of foramen magnum NOT_TRANSLATED +HP:0002700 Increased diameter of foramen magnum NOT_TRANSLATED +HP:0002700 Wide foramen magnum NOT_TRANSLATED +HP:0002703 Abnormality of bone calcification of calvarium NOT_TRANSLATED +HP:0002703 Abnormality of bone calcification of cranium NOT_TRANSLATED +HP:0002703 Abnormality of bone calcification of skull NOT_TRANSLATED +HP:0002703 Abnormality of bone formation of calvarium NOT_TRANSLATED +HP:0002703 Abnormality of bone formation of cranium NOT_TRANSLATED +HP:0002703 Abnormality of bone mineralization of calvarium NOT_TRANSLATED +HP:0002703 Abnormality of bone mineralization of cranium NOT_TRANSLATED +HP:0002703 Abnormality of bone mineralization of skull NOT_TRANSLATED +HP:0002703 Abnormality of ossification of calvarium NOT_TRANSLATED +HP:0002703 Abnormality of ossification of cranium NOT_TRANSLATED +HP:0002703 Abnormality of skull bone formation NOT_TRANSLATED +HP:0002705 Gothic palate NOT_TRANSLATED +HP:0002705 High narrow palate NOT_TRANSLATED +HP:0002705 High vaulted palate NOT_TRANSLATED +HP:0002705 Narrow and high arched palate NOT_TRANSLATED +HP:0002705 Narrow, high-arched palate NOT_TRANSLATED +HP:0002705 Narrow, high-arched roof of mouth NOT_TRANSLATED +HP:0002705 Narrow, highly arched palate NOT_TRANSLATED +HP:0002705 Narrow, highly arched roof of mouth NOT_TRANSLATED +HP:0002707 Palatal angioectasia NOT_TRANSLATED +HP:0002707 Palatal spider veins NOT_TRANSLATED +HP:0002707 Palatal telangiectasia NOT_TRANSLATED +HP:0002707 Palate telangiectases NOT_TRANSLATED +HP:0002707 Palate teleangiectases NOT_TRANSLATED +HP:0002707 Spider veins of the roof of the mouth NOT_TRANSLATED +HP:0002707 Telangiectasia of the roof of the mouth NOT_TRANSLATED +HP:0002708 Prominent central palatal ridge NOT_TRANSLATED +HP:0002708 Prominent central ridge on roof of the mouth NOT_TRANSLATED +HP:0002708 Prominent medial palatal suture NOT_TRANSLATED +HP:0002710 Commissural labial pits NOT_TRANSLATED +HP:0002710 Commissural pit NOT_TRANSLATED +HP:0002710 Lip pits at corners of the mouth NOT_TRANSLATED +HP:0002710 Pits at the corners of the lips NOT_TRANSLATED +HP:0002711 Deep central lingual furrow NOT_TRANSLATED +HP:0002711 Deep central lingual groove NOT_TRANSLATED +HP:0002711 Deep central tongue furrow NOT_TRANSLATED +HP:0002711 Deep central tongue groove NOT_TRANSLATED +HP:0002711 Deep median lingual furrow NOT_TRANSLATED +HP:0002711 Deep median lingual groove NOT_TRANSLATED +HP:0002711 Deep median tongue furrow NOT_TRANSLATED +HP:0002711 Deep median tongue groove NOT_TRANSLATED +HP:0002711 Exaggerated median lingual furrow NOT_TRANSLATED +HP:0002714 Downturned corners of the mouth NOT_TRANSLATED +HP:0002714 Downturned mouth NOT_TRANSLATED +HP:0002714 Downturned oral commisures NOT_TRANSLATED +HP:0002715 Immunological abnormality NOT_TRANSLATED +HP:0002716 Lymph node hyperplasia NOT_TRANSLATED +HP:0002716 Swollen lymph nodes NOT_TRANSLATED +HP:0002718 Bacterial infections, recurrent NOT_TRANSLATED +HP:0002718 Frequent bacterial infections NOT_TRANSLATED +HP:0002718 Frequent pyogenic infections NOT_TRANSLATED +HP:0002718 Increased susceptibility to bacterial infections NOT_TRANSLATED +HP:0002718 Prone to bacterial infection NOT_TRANSLATED +HP:0002718 Recurrent major bacterial infections NOT_TRANSLATED +HP:0002718 Recurrent pyogenic infections NOT_TRANSLATED +HP:0002718 Susceptibility to pyogenic infection NOT_TRANSLATED +HP:0002719 Frequent infections NOT_TRANSLATED +HP:0002719 Frequent, severe infections NOT_TRANSLATED +HP:0002719 Increased frequency of infection NOT_TRANSLATED +HP:0002719 Predisposition to infections NOT_TRANSLATED +HP:0002719 Susceptibility to infection NOT_TRANSLATED +HP:0002719 infections, recurrent NOT_TRANSLATED +HP:0002720 Decreased IgA NOT_TRANSLATED +HP:0002720 Decreased immunoglobulin A NOT_TRANSLATED +HP:0002720 Gamma-A globulin deficiency NOT_TRANSLATED +HP:0002720 IgA deficiency NOT_TRANSLATED +HP:0002720 Low levels of immunoglobulin A NOT_TRANSLATED +HP:0002720 Reduced IgA levels NOT_TRANSLATED +HP:0002721 Decreased immune function NOT_TRANSLATED +HP:0002721 Immune deficiency NOT_TRANSLATED +HP:0002724 Aspergillus infections, recurrent NOT_TRANSLATED +HP:0002725 SLE NOT_TRANSLATED +HP:0002726 Staphylococcus aureus infections, recurrent NOT_TRANSLATED +HP:0002728 Chronic candidiasis of mucosa, skin and nails NOT_TRANSLATED +HP:0002728 Mucocutaneous candidiasis NOT_TRANSLATED +HP:0002731 Defective lymphocyte apoptosis NOT_TRANSLATED +HP:0002732 Small lymph nodes NOT_TRANSLATED +HP:0002733 Abnormal lymph node histology NOT_TRANSLATED +HP:0002733 Abnormality of the lymph nodes NOT_TRANSLATED +HP:0002737 Increased thickness of bone of skull base NOT_TRANSLATED +HP:0002737 Increased thickness of skull base NOT_TRANSLATED +HP:0002738 Decreased pneumatization of frontal sinus NOT_TRANSLATED +HP:0002738 Decreased volume of frontal sinuses NOT_TRANSLATED +HP:0002738 Hypotrophic frontal sinus NOT_TRANSLATED +HP:0002738 Small frontal sinuses NOT_TRANSLATED +HP:0002738 Underdeveloped frontal sinuses NOT_TRANSLATED +HP:0002740 E coli infections NOT_TRANSLATED +HP:0002740 E coli infections, recurrent NOT_TRANSLATED +HP:0002742 Klebsiella infections, recurrent NOT_TRANSLATED +HP:0002744 Bilateral cleft lip and cleft palate NOT_TRANSLATED +HP:0002744 Right and left cleft lip and palate NOT_TRANSLATED +HP:0002745 Oral idiopathic keratosis NOT_TRANSLATED +HP:0002745 Oral idiopathic leukoplakia NOT_TRANSLATED +HP:0002745 Oral idiopathic white patch NOT_TRANSLATED +HP:0002745 Oral leucoplakia NOT_TRANSLATED +HP:0002745 Oral leukokeratosis NOT_TRANSLATED +HP:0002745 Oral leukoplasia NOT_TRANSLATED +HP:0002745 Oral white patch NOT_TRANSLATED +HP:0002745 Oral white plaque NOT_TRANSLATED +HP:0002745 leukokeratosis NOT_TRANSLATED +HP:0002747 Decreased lung function due to weak breathing muscles NOT_TRANSLATED +HP:0002747 Decreased respiratory function due to muscle weakness NOT_TRANSLATED +HP:0002747 Respiratory distress due to muscle weakness NOT_TRANSLATED +HP:0002747 Respiratory failure due to muscle weakness NOT_TRANSLATED +HP:0002747 Respiratory muscle weakness NOT_TRANSLATED +HP:0002748 Weak and soft bones NOT_TRANSLATED +HP:0002749 Softening of the bones NOT_TRANSLATED +HP:0002750 Delayed bone age NOT_TRANSLATED +HP:0002750 Delayed bone age before puberty NOT_TRANSLATED +HP:0002750 Delayed bone maturation NOT_TRANSLATED +HP:0002750 Delayed skeletal development NOT_TRANSLATED +HP:0002750 Retarded bone age NOT_TRANSLATED +HP:0002750 Retarded ossification NOT_TRANSLATED +HP:0002750 Skeletal maturation retardation NOT_TRANSLATED +HP:0002753 Thin cortices NOT_TRANSLATED +HP:0002754 Bone infection NOT_TRANSLATED +HP:0002756 Pathologic fractures NOT_TRANSLATED +HP:0002756 Spontaneous fracture NOT_TRANSLATED +HP:0002756 Spontaneous fractures NOT_TRANSLATED +HP:0002757 Frequent fractures NOT_TRANSLATED +HP:0002757 Increased fracture rate NOT_TRANSLATED +HP:0002757 Increased fractures NOT_TRANSLATED +HP:0002757 Multiple fractures NOT_TRANSLATED +HP:0002757 Multiple spontaneous fractures NOT_TRANSLATED +HP:0002757 Varying degree of multiple fractures NOT_TRANSLATED +HP:0002758 Degenerative joint disease NOT_TRANSLATED +HP:0002761 Generalised joint laxity NOT_TRANSLATED +HP:0002761 Hypermobility of all joints NOT_TRANSLATED +HP:0002761 Joint laxity, generalised NOT_TRANSLATED +HP:0002761 Joint laxity, generalized NOT_TRANSLATED +HP:0002763 Abnormal shape of cartilage NOT_TRANSLATED +HP:0002763 Abnormality of cartilage morphology NOT_TRANSLATED +HP:0002777 Narrowing of windpipe NOT_TRANSLATED +HP:0002778 Abnormal trachea morphology NOT_TRANSLATED +HP:0002778 Abnormality of the trachea NOT_TRANSLATED +HP:0002778 Tracheal disease NOT_TRANSLATED +HP:0002779 Floppy windpipe NOT_TRANSLATED +HP:0002783 Chronic lung infections NOT_TRANSLATED +HP:0002783 Lower respiratory tract infections NOT_TRANSLATED +HP:0002783 Recurrent chest infections NOT_TRANSLATED +HP:0002787 Calcification of the trachea NOT_TRANSLATED +HP:0002787 Tracheal calcifications NOT_TRANSLATED +HP:0002787 Tracheal ectopic calcification NOT_TRANSLATED +HP:0002788 Frequent upper respiratory infections NOT_TRANSLATED +HP:0002788 Frequent upper respiratory tract infections NOT_TRANSLATED +HP:0002788 Recurrent URI NOT_TRANSLATED +HP:0002788 Recurrent colds NOT_TRANSLATED +HP:0002788 Recurrent upper respiratory and lower respiratory infections NOT_TRANSLATED +HP:0002788 Recurrent upper respiratory infection NOT_TRANSLATED +HP:0002788 Recurrent upper respiratory infections NOT_TRANSLATED +HP:0002788 Upper respiratory tract infections NOT_TRANSLATED +HP:0002788 Upper respiratory tract infections, recurrent NOT_TRANSLATED +HP:0002789 Increased respiratory rate or depth of breathing NOT_TRANSLATED +HP:0002789 Polypnea NOT_TRANSLATED +HP:0002790 Impaired breathing in newborn NOT_TRANSLATED +HP:0002791 Alveolar hypoventilation NOT_TRANSLATED +HP:0002791 Respiratory depression NOT_TRANSLATED +HP:0002791 Slow breathing NOT_TRANSLATED +HP:0002791 Under breathing NOT_TRANSLATED +HP:0002792 Decreased vital capacity NOT_TRANSLATED +HP:0002793 Abnormal respiratory patterns NOT_TRANSLATED +HP:0002793 Unusual breathing patterns NOT_TRANSLATED +HP:0002795 Abnormal respiration NOT_TRANSLATED +HP:0002795 Functional respiratory abnormality NOT_TRANSLATED +HP:0002795 Impaired pulmonary function NOT_TRANSLATED +HP:0002795 Respiratory problem NOT_TRANSLATED +HP:0002797 Breakdown of bone NOT_TRANSLATED +HP:0002797 Increased bone resorption NOT_TRANSLATED +HP:0002797 Osteolytic defects of bones NOT_TRANSLATED +HP:0002803 Congenital joint contractures NOT_TRANSLATED +HP:0002803 congenital contractures NOT_TRANSLATED +HP:0002804 Arthrogryposis NOT_TRANSLATED +HP:0002804 Arthrogryposis multiplex NOT_TRANSLATED +HP:0002804 Arthrogryposis, congenital NOT_TRANSLATED +HP:0002804 Multiple congenital contractures NOT_TRANSLATED +HP:0002808 Gibbus deformity NOT_TRANSLATED +HP:0002808 Hunched back NOT_TRANSLATED +HP:0002808 Hyperkyphosis NOT_TRANSLATED +HP:0002808 Round back NOT_TRANSLATED +HP:0002810 Dumbbell shaped metaphyses NOT_TRANSLATED +HP:0002810 Dumbbell shaped metaphysis NOT_TRANSLATED +HP:0002810 Dumbbell shaped wide portion of long bone NOT_TRANSLATED +HP:0002813 Abnormal shape of limb bone NOT_TRANSLATED +HP:0002813 Arm and/or leg bone differences NOT_TRANSLATED +HP:0002813 Limb abnormality NOT_TRANSLATED +HP:0002814 Abnormality of the leg NOT_TRANSLATED +HP:0002814 Lower limb deformities NOT_TRANSLATED +HP:0002816 Back knee NOT_TRANSLATED +HP:0002816 Genu recurvata NOT_TRANSLATED +HP:0002816 Knee hyperextension NOT_TRANSLATED +HP:0002817 Abnormality of the arm NOT_TRANSLATED +HP:0002818 Abnormality of the radius NOT_TRANSLATED +HP:0002821 Charcot arthropathy NOT_TRANSLATED +HP:0002821 Charcot joint NOT_TRANSLATED +HP:0002822 Hyperplastic femoral trochanters NOT_TRANSLATED +HP:0002823 Abnormality of the femora NOT_TRANSLATED +HP:0002823 Abnormality of the thighbone NOT_TRANSLATED +HP:0002825 Coccygeal tail NOT_TRANSLATED +HP:0002825 Human tail NOT_TRANSLATED +HP:0002826 Halberd-shaped pelvis bone NOT_TRANSLATED +HP:0002827 Dislocated hips NOT_TRANSLATED +HP:0002827 Dislocation of hip NOT_TRANSLATED +HP:0002829 Arthralgias NOT_TRANSLATED +HP:0002829 Arthritic pain NOT_TRANSLATED +HP:0002829 Joint pain NOT_TRANSLATED +HP:0002829 Joint pains NOT_TRANSLATED +HP:0002831 Long tailbone NOT_TRANSLATED +HP:0002832 Discrete calcific stippling NOT_TRANSLATED +HP:0002833 Lytic cystic lesions in appendicular bones NOT_TRANSLATED +HP:0002834 Flared metaphysis of thigh bone NOT_TRANSLATED +HP:0002835 Pulmonary aspiration NOT_TRANSLATED +HP:0002836 Ectopia vesicae NOT_TRANSLATED +HP:0002837 Bronchitis, recurrent NOT_TRANSLATED +HP:0002839 Sphincter disturbance NOT_TRANSLATED +HP:0002839 Sphincter disturbances NOT_TRANSLATED +HP:0002840 Inflammation of the lymph nodes NOT_TRANSLATED +HP:0002843 Abnormal T cells NOT_TRANSLATED +HP:0002843 Abnormality of T cells NOT_TRANSLATED +HP:0002843 Cellular immune defect NOT_TRANSLATED +HP:0002843 Defective cellular immunity NOT_TRANSLATED +HP:0002846 Abnormal B cells NOT_TRANSLATED +HP:0002846 Abnormality of B cells NOT_TRANSLATED +HP:0002848 Depressed antibody response to polysaccharide antigens NOT_TRANSLATED +HP:0002848 Low specific anti-polysaccharide antibody titer NOT_TRANSLATED +HP:0002848 Specific anti-polysaccharide antibody deficiency NOT_TRANSLATED +HP:0002849 Absence of lymph node germinal centre NOT_TRANSLATED +HP:0002849 Lymph nodes lack germinal center NOT_TRANSLATED +HP:0002849 Lymph nodes lack germinal centre NOT_TRANSLATED +HP:0002849 Lymphoid germinal center defect NOT_TRANSLATED +HP:0002849 Lymphoid germinal centre defect NOT_TRANSLATED +HP:0002850 Decreased IgM NOT_TRANSLATED +HP:0002850 Decreased IgM level NOT_TRANSLATED +HP:0002850 IgM deficiency NOT_TRANSLATED +HP:0002850 Reduced IgM levels NOT_TRANSLATED +HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors NOT_TRANSLATED +HP:0002857 Genu valga NOT_TRANSLATED +HP:0002857 Genu valgus NOT_TRANSLATED +HP:0002857 Genua valga NOT_TRANSLATED +HP:0002857 Knee joint valgus deformity NOT_TRANSLATED +HP:0002857 Knock knees NOT_TRANSLATED +HP:0002858 Noncancerous growth of membranes covering brain NOT_TRANSLATED +HP:0002860 Squamous cell cancer NOT_TRANSLATED +HP:0002861 Cancer of skin pigment cells NOT_TRANSLATED +HP:0002861 Malignant melanoma NOT_TRANSLATED +HP:0002861 Skin cancer (melanoma) NOT_TRANSLATED +HP:0002863 Hypoplastic myelodysplasia NOT_TRANSLATED +HP:0002863 Myelodysplastic syndrome NOT_TRANSLATED +HP:0002864 Paragangliomas, head and neck NOT_TRANSLATED +HP:0002865 Medullary thyroid cancer NOT_TRANSLATED +HP:0002866 Hypoplastic iliac alae NOT_TRANSLATED +HP:0002866 Hypoplastic iliac wings NOT_TRANSLATED +HP:0002866 Small iliac wings NOT_TRANSLATED +HP:0002867 Abnormality of the ilium NOT_TRANSLATED +HP:0002867 Iliac abnormalities NOT_TRANSLATED +HP:0002868 Narrow iliac wings NOT_TRANSLATED +HP:0002869 Flared iliac wings NOT_TRANSLATED +HP:0002870 Obstructive sleep apnoea NOT_TRANSLATED +HP:0002871 Central apnoea NOT_TRANSLATED +HP:0002872 Episodic apnea induced by febrile illness or stress NOT_TRANSLATED +HP:0002875 Exertional breathlessness NOT_TRANSLATED +HP:0002875 Exertional dyspnoea NOT_TRANSLATED +HP:0002875 Shortness of breathing upon physical activity NOT_TRANSLATED +HP:0002876 Hyperpnea, episodic NOT_TRANSLATED +HP:0002877 Hypoventilation during sleep NOT_TRANSLATED +HP:0002877 Nocturnal hypopnea NOT_TRANSLATED +HP:0002877 Nocturnal slow breathing NOT_TRANSLATED +HP:0002877 Nocturnal under breathing NOT_TRANSLATED +HP:0002883 Rapid breathing NOT_TRANSLATED +HP:0002886 Glomus vagale paraganglioma NOT_TRANSLATED +HP:0002886 Glomus vagale tumor NOT_TRANSLATED +HP:0002886 Glomus vagale tumour NOT_TRANSLATED +HP:0002886 Vagal nerve tumors NOT_TRANSLATED +HP:0002886 Vagal nerve tumours NOT_TRANSLATED +HP:0002893 Noncancerous tumor in pituitary gland NOT_TRANSLATED +HP:0002893 Noncancerous tumour in pituitary gland NOT_TRANSLATED +HP:0002893 Pituitary gland adenoma NOT_TRANSLATED +HP:0002894 Cancer of the pancreas NOT_TRANSLATED +HP:0002894 Neoplasia of the pancreas NOT_TRANSLATED +HP:0002894 Pancreatic cancer NOT_TRANSLATED +HP:0002894 Pancreatic tumor NOT_TRANSLATED +HP:0002894 Pancreatic tumour NOT_TRANSLATED +HP:0002894 increased risk of pancreatic cancer NOT_TRANSLATED +HP:0002895 Papillary carcinoma of thyroid NOT_TRANSLATED +HP:0002895 Thyroid papillary carcinoma NOT_TRANSLATED +HP:0002896 Liver cancer NOT_TRANSLATED +HP:0002896 Liver tumor NOT_TRANSLATED +HP:0002896 Liver tumour NOT_TRANSLATED +HP:0002897 Parathyroid adenomas NOT_TRANSLATED +HP:0002898 Embryonal neoplasia NOT_TRANSLATED +HP:0002898 Embryonal tumors NOT_TRANSLATED +HP:0002898 Embryonal tumours NOT_TRANSLATED +HP:0002900 Low blood potassium levels NOT_TRANSLATED +HP:0002901 Hypocalcaemia NOT_TRANSLATED +HP:0002901 Low blood calcium levels NOT_TRANSLATED +HP:0002902 Low blood sodium levels NOT_TRANSLATED +HP:0002904 High blood bilirubin levels NOT_TRANSLATED +HP:0002905 High blood phosphate levels NOT_TRANSLATED +HP:0002907 Microhematuria NOT_TRANSLATED +HP:0002907 Occult hematuria NOT_TRANSLATED +HP:0002907 Small amount of blood in urine NOT_TRANSLATED +HP:0002908 Direct hyperbilirubinemia NOT_TRANSLATED +HP:0002909 Generalised aminoaciduria NOT_TRANSLATED +HP:0002909 Generalised nonspecific aminoaciduria NOT_TRANSLATED +HP:0002909 Generalized nonspecific aminoaciduria NOT_TRANSLATED +HP:0002910 Abnormal liver enzymes NOT_TRANSLATED +HP:0002910 Abnormal liver function NOT_TRANSLATED +HP:0002910 Abnormal liver function tests NOT_TRANSLATED +HP:0002910 Elevated liver enzymes NOT_TRANSLATED +HP:0002910 Elevated liver function tests NOT_TRANSLATED +HP:0002910 Elevated serum transaminases NOT_TRANSLATED +HP:0002910 Elevated transaminases NOT_TRANSLATED +HP:0002910 High liver enzymes NOT_TRANSLATED +HP:0002910 Increased liver enzymes NOT_TRANSLATED +HP:0002910 Increased liver function tests NOT_TRANSLATED +HP:0002910 Increased transaminases NOT_TRANSLATED +HP:0002910 Raised liver enzymes NOT_TRANSLATED +HP:0002910 Subclinical abnormal liver function tests NOT_TRANSLATED +HP:0002912 Elevated circulating methylmalonic acid concentration NOT_TRANSLATED +HP:0002914 Increased urinary chloride NOT_TRANSLATED +HP:0002917 Low blood Mg levels NOT_TRANSLATED +HP:0002917 Low blood magnesium levels NOT_TRANSLATED +HP:0002918 High blood Mg levels NOT_TRANSLATED +HP:0002918 High blood magnesium levels NOT_TRANSLATED +HP:0002919 Acetonuria NOT_TRANSLATED +HP:0002919 Ketoaciduria NOT_TRANSLATED +HP:0002919 Ketonaciduria NOT_TRANSLATED +HP:0002919 Ketone bodies in urine NOT_TRANSLATED +HP:0002921 Abnormal CSF findings NOT_TRANSLATED +HP:0002921 Abnormality of the CSF NOT_TRANSLATED +HP:0002921 Abnormality of the cerebrospinal fluid NOT_TRANSLATED +HP:0002922 Cerebrospinal fluid protein increased NOT_TRANSLATED +HP:0002922 Cerebrospinal fluid with increased protein NOT_TRANSLATED +HP:0002922 Elevated cerebrospinal fluid protein NOT_TRANSLATED +HP:0002922 Elevated csf protein NOT_TRANSLATED +HP:0002922 Hyperproteinorrhachia NOT_TRANSLATED +HP:0002922 Increased CSF protein NOT_TRANSLATED +HP:0002922 Increased protein in csf NOT_TRANSLATED +HP:0002922 Spinal fluid protein elevated NOT_TRANSLATED +HP:0002925 Elevated thyroid stimulating hormone NOT_TRANSLATED +HP:0002925 Elevated thyroid stimulating hormone levels NOT_TRANSLATED +HP:0002925 High TSH NOT_TRANSLATED +HP:0002925 Increased serum thyroid-stimulating hormone NOT_TRANSLATED +HP:0002925 Increased thyroid-stimulating hormone NOT_TRANSLATED +HP:0002925 Increased thyroid-stimulating hormone level NOT_TRANSLATED +HP:0002925 Increased thyrotropin level NOT_TRANSLATED +HP:0002925 TSH excess NOT_TRANSLATED +HP:0002925 Thyroid-stimulating hormone excess NOT_TRANSLATED +HP:0002926 Abnormal thyroid function NOT_TRANSLATED +HP:0002927 Elevated histidine in urine NOT_TRANSLATED +HP:0002927 High urine histidine levels NOT_TRANSLATED +HP:0002928 Decreased activity of the PDH complex NOT_TRANSLATED +HP:0002928 Pyruvate dehydrogenase complex deficiency NOT_TRANSLATED +HP:0002930 Elevated serum levels of free thyroid hormone with nonsuppressed TSH NOT_TRANSLATED +HP:0002930 End-organ unresponsiveness to thyroid hormone NOT_TRANSLATED +HP:0002930 Resistance to thyroid hormone NOT_TRANSLATED +HP:0002930 Thyroid hormone receptor defect NOT_TRANSLATED +HP:0002930 Thyroid hormone resistance NOT_TRANSLATED +HP:0002936 Decreased distal sensation NOT_TRANSLATED +HP:0002936 Decreased sensation in extremities NOT_TRANSLATED +HP:0002936 Distal sensation loss NOT_TRANSLATED +HP:0002936 Distal sensory impairment in lower limbs NOT_TRANSLATED +HP:0002936 Distal sensory impairment of the lower extremities NOT_TRANSLATED +HP:0002936 Distal sensory loss NOT_TRANSLATED +HP:0002936 Distal sensory loss, upper and lower limbs NOT_TRANSLATED +HP:0002936 Loss of distal sensation NOT_TRANSLATED +HP:0002937 Hemi-vertebrae NOT_TRANSLATED +HP:0002937 Hemivertebra NOT_TRANSLATED +HP:0002937 Missing part of vertebrae NOT_TRANSLATED +HP:0002938 Exaggerated lumbar lordosis NOT_TRANSLATED +HP:0002938 Excessive inward curvature of lower spine NOT_TRANSLATED +HP:0002938 Increased lumbar lordosis NOT_TRANSLATED +HP:0002938 Lumbar lordosis NOT_TRANSLATED +HP:0002938 Prominent lumbar lordosis NOT_TRANSLATED +HP:0002942 Accentuated thoracic kyphosis NOT_TRANSLATED +HP:0002942 Exaggerated thoracic kyphosis NOT_TRANSLATED +HP:0002944 Scoliosis, thoracolumbar NOT_TRANSLATED +HP:0002945 Narrow intervertebral disc spaces NOT_TRANSLATED +HP:0002945 Narrow intervertebral spaces NOT_TRANSLATED +HP:0002947 Rounded neck NOT_TRANSLATED +HP:0002948 Fused vertebrae NOT_TRANSLATED +HP:0002948 Fusion of vertebral bodies NOT_TRANSLATED +HP:0002948 Spinal fusion NOT_TRANSLATED +HP:0002948 Vertebral body fusion NOT_TRANSLATED +HP:0002949 Cervical spine fusion NOT_TRANSLATED +HP:0002949 Cervical vertebral fusion NOT_TRANSLATED +HP:0002949 Fused neck NOT_TRANSLATED +HP:0002949 Fusion of cervical vertebrae NOT_TRANSLATED +HP:0002953 Compression fracture of a vertebral body NOT_TRANSLATED +HP:0002953 Fractures of vertebral bodies NOT_TRANSLATED +HP:0002953 Vertebral body compression NOT_TRANSLATED +HP:0002953 Vertebral collapse NOT_TRANSLATED +HP:0002953 Vertebral compression NOT_TRANSLATED +HP:0002953 Vertebral compression fractures NOT_TRANSLATED +HP:0002953 Vertebral compression or collapse NOT_TRANSLATED +HP:0002958 Unregulated immune response NOT_TRANSLATED +HP:0002959 Impaired B-lymphocyte isotype switching NOT_TRANSLATED +HP:0002960 Autoimmune condition NOT_TRANSLATED +HP:0002960 Autoimmune disease NOT_TRANSLATED +HP:0002960 Autoimmune disorder NOT_TRANSLATED +HP:0002965 Absence of delayed hypersensitivity skin test NOT_TRANSLATED +HP:0002965 Lack of delayed skin hypersensitivity reaction NOT_TRANSLATED +HP:0002967 Outward turned elbows NOT_TRANSLATED +HP:0002970 Genu vara NOT_TRANSLATED +HP:0002970 Genua vara NOT_TRANSLATED +HP:0002970 Outward bow-leggedness NOT_TRANSLATED +HP:0002970 Outward bowing at knees NOT_TRANSLATED +HP:0002972 Decreased reactivity to skin test antigens NOT_TRANSLATED +HP:0002972 Deficiency of delayed skin hypersensitivity NOT_TRANSLATED +HP:0002972 Impaired delayed hypersensitivity NOT_TRANSLATED +HP:0002973 Abnormality of the forearm NOT_TRANSLATED +HP:0002974 Fused forearm bones NOT_TRANSLATED +HP:0002977 Absent/underdeveloped central nervous system tissue NOT_TRANSLATED +HP:0002977 Aplasia/Hypoplasia involving the CNS NOT_TRANSLATED +HP:0002979 Bow legs NOT_TRANSLATED +HP:0002979 Bow-leggedness NOT_TRANSLATED +HP:0002979 Bowed legs NOT_TRANSLATED +HP:0002979 Bowed lower limbs NOT_TRANSLATED +HP:0002980 Bowed femur NOT_TRANSLATED +HP:0002980 Bowed femura NOT_TRANSLATED +HP:0002980 Bowed femurs NOT_TRANSLATED +HP:0002980 Bowed thighbone NOT_TRANSLATED +HP:0002982 Bowed shankbone NOT_TRANSLATED +HP:0002982 Bowed shinbone NOT_TRANSLATED +HP:0002982 Bowed tibia NOT_TRANSLATED +HP:0002982 Bowing of the tibia NOT_TRANSLATED +HP:0002983 Smaller or shorter than typical limbs NOT_TRANSLATED +HP:0002984 Hypoplastic radii NOT_TRANSLATED +HP:0002984 Hypoplastic radius NOT_TRANSLATED +HP:0002984 Radial hypoplasia NOT_TRANSLATED +HP:0002984 Radial ray hypoplasia NOT_TRANSLATED +HP:0002984 Short radii NOT_TRANSLATED +HP:0002984 Short radius NOT_TRANSLATED +HP:0002984 Shortening of radius NOT_TRANSLATED +HP:0002984 Underdeveloped outer large forearm bone NOT_TRANSLATED +HP:0002986 Bowed radii NOT_TRANSLATED +HP:0002986 Bowed radius NOT_TRANSLATED +HP:0002986 Bowing of outer large bone of the forearm NOT_TRANSLATED +HP:0002986 Bowing of radius bone of the forearm NOT_TRANSLATED +HP:0002987 Elbow flexion contractures NOT_TRANSLATED +HP:0002987 Elbow flexion deformity NOT_TRANSLATED +HP:0002987 Fixed flexion at the elbow joint NOT_TRANSLATED +HP:0002990 Absent calf bone NOT_TRANSLATED +HP:0002990 Absent fibulae NOT_TRANSLATED +HP:0002990 Absent-hypoplastic fibulae NOT_TRANSLATED +HP:0002991 Abnormality of the calf bone NOT_TRANSLATED +HP:0002992 Abnormality of the shankbone NOT_TRANSLATED +HP:0002992 Abnormality of the shinbone NOT_TRANSLATED +HP:0002996 Decreased elbow mobility NOT_TRANSLATED +HP:0002996 Limited elbow mobility NOT_TRANSLATED +HP:0002996 Restricted elbow motion NOT_TRANSLATED +HP:0002999 Dislocated kneecap NOT_TRANSLATED +HP:0002999 Dislocated patellae NOT_TRANSLATED +HP:0002999 Dislocation of patella NOT_TRANSLATED +HP:0003001 Glomus jugular tumour NOT_TRANSLATED +HP:0003001 Glomus jugulare tumor NOT_TRANSLATED +HP:0003001 Glomus jugulare tumors NOT_TRANSLATED +HP:0003001 Glomus jugulare tumour NOT_TRANSLATED +HP:0003001 Glomus jugulare tumours NOT_TRANSLATED +HP:0003002 Breast cancer NOT_TRANSLATED +HP:0003006 Cancer of early nerve cells NOT_TRANSLATED +HP:0003010 Increased bleeding time NOT_TRANSLATED +HP:0003011 Muscular abnormality NOT_TRANSLATED +HP:0003013 Bulging end part of bone NOT_TRANSLATED +HP:0003015 Flared wide portion of long bone NOT_TRANSLATED +HP:0003015 Flared, widened metaphyses NOT_TRANSLATED +HP:0003015 Metaphyseal flaring NOT_TRANSLATED +HP:0003015 Metaphyseal flaring of long bones NOT_TRANSLATED +HP:0003015 Metaphyseal splaying NOT_TRANSLATED +HP:0003015 Metaphyses flared NOT_TRANSLATED +HP:0003015 Splayed metaphyses NOT_TRANSLATED +HP:0003015 marked metaphyseal flaring of long bones NOT_TRANSLATED +HP:0003016 Broad wide portion of long bone NOT_TRANSLATED +HP:0003016 Wide metaphyses NOT_TRANSLATED +HP:0003016 Widened long bone metaphyses NOT_TRANSLATED +HP:0003016 Widened metaphyses NOT_TRANSLATED +HP:0003019 Abnormalities of the wrists NOT_TRANSLATED +HP:0003022 Hypoplastic ulna NOT_TRANSLATED +HP:0003022 Short ulna NOT_TRANSLATED +HP:0003022 Short ulnae NOT_TRANSLATED +HP:0003022 Ulnar hypoplasia NOT_TRANSLATED +HP:0003022 Underdeveloped inner large forearm bone NOT_TRANSLATED +HP:0003022 Underdeveloped ulna NOT_TRANSLATED +HP:0003023 Bowed limbs due to multiple fractures NOT_TRANSLATED +HP:0003025 Frayed, irregular metaphyses NOT_TRANSLATED +HP:0003025 Frayed, irregular, metaphyses NOT_TRANSLATED +HP:0003025 Irregular metaphyses NOT_TRANSLATED +HP:0003025 Irregular wide portion of a long bone NOT_TRANSLATED +HP:0003025 Metaphyseal fraying NOT_TRANSLATED +HP:0003025 Metaphyseal irregularities NOT_TRANSLATED +HP:0003026 Long bone shortening NOT_TRANSLATED +HP:0003026 Short tubular bones NOT_TRANSLATED +HP:0003026 shortened long tubular bones NOT_TRANSLATED +HP:0003027 Disproportionately short middle portion of limb NOT_TRANSLATED +HP:0003027 Mesomelic limb shortening NOT_TRANSLATED +HP:0003027 Mesomelic shortening of limbs NOT_TRANSLATED +HP:0003027 Symmetric mesomelic limb shortness NOT_TRANSLATED +HP:0003031 Bowed ulna NOT_TRANSLATED +HP:0003031 Curved ulna NOT_TRANSLATED +HP:0003031 Curving of inner forearm bone NOT_TRANSLATED +HP:0003034 Craniodiaphyseal osteosclerosis NOT_TRANSLATED +HP:0003034 Diaphyseal osteosclerosis NOT_TRANSLATED +HP:0003034 Increased bone density in shaft of long bone NOT_TRANSLATED +HP:0003037 Prominent joints NOT_TRANSLATED +HP:0003038 Hypoplastic fibula NOT_TRANSLATED +HP:0003038 Short calf bone NOT_TRANSLATED +HP:0003038 Short fibula NOT_TRANSLATED +HP:0003038 Short fibulae NOT_TRANSLATED +HP:0003040 Disease of the joints NOT_TRANSLATED +HP:0003041 Fusion of upper and lower arm bones NOT_TRANSLATED +HP:0003041 Humeral radial synostosis NOT_TRANSLATED +HP:0003041 Humeral-radial synostosis NOT_TRANSLATED +HP:0003041 Radiohumeral synostosis of elbow NOT_TRANSLATED +HP:0003041 Synostosis of radius and humerus NOT_TRANSLATED +HP:0003042 Dislocations of the elbows NOT_TRANSLATED +HP:0003042 Elbow dislocations NOT_TRANSLATED +HP:0003042 Radiocapitellar dislocation NOT_TRANSLATED +HP:0003042 Radiohumeral dislocation NOT_TRANSLATED +HP:0003042 Ulnohumeral dislocation NOT_TRANSLATED +HP:0003043 Abnormality of the shoulder NOT_TRANSLATED +HP:0003045 Abnormal kneecap NOT_TRANSLATED +HP:0003045 Abnormality of the patella NOT_TRANSLATED +HP:0003045 Patellar abnormality NOT_TRANSLATED +HP:0003048 Radial subluxation NOT_TRANSLATED +HP:0003048 Radial-head subluxation NOT_TRANSLATED +HP:0003049 Ulnar deviation of wrists NOT_TRANSLATED +HP:0003051 Enlarged wide portion of a long bone NOT_TRANSLATED +HP:0003057 Tetra-amelia NOT_TRANSLATED +HP:0003063 Abnormality of the humeri NOT_TRANSLATED +HP:0003065 Hypoplastic patellae NOT_TRANSLATED +HP:0003065 Small kneecap NOT_TRANSLATED +HP:0003065 Small patella NOT_TRANSLATED +HP:0003065 Small patellae NOT_TRANSLATED +HP:0003065 Underdeveloped kneecap NOT_TRANSLATED +HP:0003067 Madelung wrist deformity NOT_TRANSLATED +HP:0003071 Flat end part of bone NOT_TRANSLATED +HP:0003071 Flat epiphyses NOT_TRANSLATED +HP:0003072 High blood calcium levels NOT_TRANSLATED +HP:0003072 Hypercalcaemia NOT_TRANSLATED +HP:0003072 Increased calcium in blood NOT_TRANSLATED +HP:0003073 Hypoalbuminaemia NOT_TRANSLATED +HP:0003073 Low albumin NOT_TRANSLATED +HP:0003073 Low blood albumin NOT_TRANSLATED +HP:0003074 High blood glucose NOT_TRANSLATED +HP:0003074 High blood sugar NOT_TRANSLATED +HP:0003075 Decreased protein levels in blood NOT_TRANSLATED +HP:0003076 Glucose in urine NOT_TRANSLATED +HP:0003076 Glucosuria NOT_TRANSLATED +HP:0003077 Elevated lipids in blood NOT_TRANSLATED +HP:0003080 Elevated urinary hydroxyproline NOT_TRANSLATED +HP:0003081 Hyperkaliuresis NOT_TRANSLATED +HP:0003081 Increased urinary K NOT_TRANSLATED +HP:0003083 Congenital radial head dislocation NOT_TRANSLATED +HP:0003083 Dislocated radial heads NOT_TRANSLATED +HP:0003083 Dislocated radius NOT_TRANSLATED +HP:0003083 Dislocation of radial head NOT_TRANSLATED +HP:0003083 Dislocation of the radial head NOT_TRANSLATED +HP:0003083 Radial dislocation NOT_TRANSLATED +HP:0003083 Radial head dislocation NOT_TRANSLATED +HP:0003083 Radial head dislocation/subluxation NOT_TRANSLATED +HP:0003084 Increased long bone fracture rate NOT_TRANSLATED +HP:0003085 Disproportionately long fibula NOT_TRANSLATED +HP:0003085 Long calf bone NOT_TRANSLATED +HP:0003088 Premature arthritis NOT_TRANSLATED +HP:0003090 Small capital femoral epiphyses NOT_TRANSLATED +HP:0003090 Small femoral capital epiphyses NOT_TRANSLATED +HP:0003090 Small innermost thighbone end part NOT_TRANSLATED +HP:0003090 Small proximal femoral epiphyses NOT_TRANSLATED +HP:0003090 Underdevelopment of the innermost thighbone end part NOT_TRANSLATED +HP:0003093 Restricted hip extension NOT_TRANSLATED +HP:0003095 Infected joint NOT_TRANSLATED +HP:0003097 Femoral hypoplasia NOT_TRANSLATED +HP:0003097 Hypoplasia of the femora NOT_TRANSLATED +HP:0003097 Short femurs NOT_TRANSLATED +HP:0003097 Short thighbone NOT_TRANSLATED +HP:0003099 Overgrowth of calf bone NOT_TRANSLATED +HP:0003100 Gracile long bones NOT_TRANSLATED +HP:0003100 Long bones slender NOT_TRANSLATED +HP:0003100 Slender long bones NOT_TRANSLATED +HP:0003100 Slender, gracile long tubular bones NOT_TRANSLATED +HP:0003100 Thin gracile long bones NOT_TRANSLATED +HP:0003100 Thin long bones NOT_TRANSLATED +HP:0003100 Thin, gracile long bones NOT_TRANSLATED +HP:0003103 Abnormal compact bone morphology NOT_TRANSLATED +HP:0003103 Abnormality of cortical bone NOT_TRANSLATED +HP:0003106 Subperiosteal erosions NOT_TRANSLATED +HP:0003107 Abnormal cholesterol homeostasis NOT_TRANSLATED +HP:0003107 Abnormality of cholesterol metabolism NOT_TRANSLATED +HP:0003108 Glycinuria NOT_TRANSLATED +HP:0003108 High urine glycine levels NOT_TRANSLATED +HP:0003109 High urine phosphate levels NOT_TRANSLATED +HP:0003109 Phosphaturia NOT_TRANSLATED +HP:0003110 Pee issues NOT_TRANSLATED +HP:0003110 Urine issues NOT_TRANSLATED +HP:0003111 Abnormality of ion homeostasis NOT_TRANSLATED +HP:0003111 Electrolyte disorders NOT_TRANSLATED +HP:0003111 Electrolyte disturbance NOT_TRANSLATED +HP:0003112 Abnormality of serum amino acid level NOT_TRANSLATED +HP:0003112 Abnormality of serum amino acid levels NOT_TRANSLATED +HP:0003113 Low blood chloride levels NOT_TRANSLATED +HP:0003115 Abnormal ECG NOT_TRANSLATED +HP:0003115 Abnormal electrocardiogram NOT_TRANSLATED +HP:0003115 EKG abnormality NOT_TRANSLATED +HP:0003117 Abnormal circulating hormone level NOT_TRANSLATED +HP:0003117 Abnormality of circulating hormone level NOT_TRANSLATED +HP:0003118 Cushing syndrome NOT_TRANSLATED +HP:0003118 Hypercortisolism NOT_TRANSLATED +HP:0003118 Increased cortisol production NOT_TRANSLATED +HP:0003119 Dyslipidaemia NOT_TRANSLATED +HP:0003119 Dyslipidemia NOT_TRANSLATED +HP:0003121 Limb contractures NOT_TRANSLATED +HP:0003124 Elevated serum cholesterol NOT_TRANSLATED +HP:0003124 Elevated total cholesterol NOT_TRANSLATED +HP:0003124 High cholesterol NOT_TRANSLATED +HP:0003124 Increased total cholesterol NOT_TRANSLATED +HP:0003125 Factor VIII deficiency NOT_TRANSLATED +HP:0003126 Tubular proteinuria NOT_TRANSLATED +HP:0003127 Low urine calcium levels NOT_TRANSLATED +HP:0003128 Hyperlacticacidemia NOT_TRANSLATED +HP:0003128 Increased lactate in body NOT_TRANSLATED +HP:0003128 Lactic acidemia NOT_TRANSLATED +HP:0003128 Lacticacidemia NOT_TRANSLATED +HP:0003128 Lacticacidosis NOT_TRANSLATED +HP:0003131 High urine cystine levels NOT_TRANSLATED +HP:0003134 Abnormal peripheral nerve transmission NOT_TRANSLATED +HP:0003134 Sensory and motor nerve conduction abnormalities NOT_TRANSLATED +HP:0003138 Increased BUN NOT_TRANSLATED +HP:0003139 Panhypogammaglobulinaemia NOT_TRANSLATED +HP:0003139 Panypogammaglobulinemia NOT_TRANSLATED +HP:0003141 Hyperbetalipoproteinemia NOT_TRANSLATED +HP:0003141 Increased LDL cholesterol NOT_TRANSLATED +HP:0003141 Increased LDLc concentration NOT_TRANSLATED +HP:0003141 Increased beta-lipoproteins NOT_TRANSLATED +HP:0003141 Increased circulating LDL level NOT_TRANSLATED +HP:0003141 Increased circulating low-density lipoprotein cholesterol NOT_TRANSLATED +HP:0003141 Increased circulating low-density lipoprotein levels NOT_TRANSLATED +HP:0003141 Increased plasma LDL levels NOT_TRANSLATED +HP:0003145 Decreased ADOCBL NOT_TRANSLATED +HP:0003146 Decreased circulating cholesterol level NOT_TRANSLATED +HP:0003148 Acid phosphatase elevated NOT_TRANSLATED +HP:0003149 High urine uric acid level NOT_TRANSLATED +HP:0003149 Increased urinary urate NOT_TRANSLATED +HP:0003150 Glutarate aciduria NOT_TRANSLATED +HP:0003150 Glutaricaciduria NOT_TRANSLATED +HP:0003150 Increased glutarate level in urine NOT_TRANSLATED +HP:0003153 High urine cystathionine levels NOT_TRANSLATED +HP:0003154 High blood corticotropin levels NOT_TRANSLATED +HP:0003154 Increased plasma ACTH NOT_TRANSLATED +HP:0003155 Elevated ALP NOT_TRANSLATED +HP:0003155 Elevated alkaline phosphatase NOT_TRANSLATED +HP:0003155 Greatly elevated alkaline phosphatase NOT_TRANSLATED +HP:0003155 High serum alkaline phosphatase NOT_TRANSLATED +HP:0003155 Hyperphosphatasemia NOT_TRANSLATED +HP:0003155 Hyperphosphatasia NOT_TRANSLATED +HP:0003155 Increased alkaline phosphatase NOT_TRANSLATED +HP:0003155 Increased serum alkaline phosphatase NOT_TRANSLATED +HP:0003158 Reduced urinary osmolality NOT_TRANSLATED +HP:0003159 High urine oxalate levels NOT_TRANSLATED +HP:0003159 Increased level of oxalate in urine NOT_TRANSLATED +HP:0003160 Abnormal isoelectric focusing of transferrin NOT_TRANSLATED +HP:0003160 Abnormal transferrin isoelectric focusing NOT_TRANSLATED +HP:0003161 Hydroxyphenylpyruvic aciduria NOT_TRANSLATED +HP:0003162 Low blood sugar when fasting NOT_TRANSLATED +HP:0003164 Hypothalamic GNRH deficiency NOT_TRANSLATED +HP:0003165 Elevated circulating PTH level NOT_TRANSLATED +HP:0003165 Elevated serum parathyroid hormone NOT_TRANSLATED +HP:0003165 Elevated serum parathyroid hormone level NOT_TRANSLATED +HP:0003165 Elevated serum pth NOT_TRANSLATED +HP:0003165 Increased serum parathyroid hormone NOT_TRANSLATED +HP:0003167 High urine carnosine levels NOT_TRANSLATED +HP:0003170 Abnormality of the acetabulum NOT_TRANSLATED +HP:0003170 Abnormality of the hipbone socket NOT_TRANSLATED +HP:0003170 Acetabular abnormality NOT_TRANSLATED +HP:0003172 Abnormality of the pubic bones NOT_TRANSLATED +HP:0003172 Abnormality of the pubis NOT_TRANSLATED +HP:0003173 Hypoplastic pubic bones NOT_TRANSLATED +HP:0003173 Hypoplastic pubis NOT_TRANSLATED +HP:0003174 Abnormality of the ischial bones NOT_TRANSLATED +HP:0003174 Anomaly of the ischium NOT_TRANSLATED +HP:0003175 Hypoplastic ischial bones NOT_TRANSLATED +HP:0003175 Hypoplastic ischii NOT_TRANSLATED +HP:0003175 Hypoplastic ischium NOT_TRANSLATED +HP:0003177 Square iliac bones NOT_TRANSLATED +HP:0003177 Squaring of iliac bones NOT_TRANSLATED +HP:0003179 Abnormally indented hip sockets NOT_TRANSLATED +HP:0003179 Protrusio acetabulae NOT_TRANSLATED +HP:0003180 Acetabular angle flat NOT_TRANSLATED +HP:0003180 Flat acetabular roofs NOT_TRANSLATED +HP:0003180 Flattened acetabular roof NOT_TRANSLATED +HP:0003180 Horizontal acetabulae NOT_TRANSLATED +HP:0003180 Horizontal acetabular roof NOT_TRANSLATED +HP:0003180 Horizontal acetabular roofs NOT_TRANSLATED +HP:0003182 Shallow acetabula NOT_TRANSLATED +HP:0003182 Shallow acetabulae NOT_TRANSLATED +HP:0003182 Shallow acetabular fossa NOT_TRANSLATED +HP:0003182 Shallow acetabulum NOT_TRANSLATED +HP:0003183 Wide symphysis of pubis NOT_TRANSLATED +HP:0003184 Limited hip abduction NOT_TRANSLATED +HP:0003185 Short sacroiliac notch NOT_TRANSLATED +HP:0003185 Shortened sacroiliac notches NOT_TRANSLATED +HP:0003185 Small sacroiliac notch NOT_TRANSLATED +HP:0003186 Invaginated nipples NOT_TRANSLATED +HP:0003187 Underdeveloped breasts NOT_TRANSLATED +HP:0003189 Elongated nose NOT_TRANSLATED +HP:0003189 Increased height of nose NOT_TRANSLATED +HP:0003189 Increased length of nose NOT_TRANSLATED +HP:0003189 Increased nasal height NOT_TRANSLATED +HP:0003189 Increased nasal length NOT_TRANSLATED +HP:0003189 Nasal elongation NOT_TRANSLATED +HP:0003191 Ala nasi, cleft NOT_TRANSLATED +HP:0003191 Alar clefts NOT_TRANSLATED +HP:0003191 Cleft nasal alae NOT_TRANSLATED +HP:0003191 Cleft nostril NOT_TRANSLATED +HP:0003191 Nostril coloboma NOT_TRANSLATED +HP:0003191 Notched nasal alae NOT_TRANSLATED +HP:0003193 Hay fever NOT_TRANSLATED +HP:0003193 Hayfever NOT_TRANSLATED +HP:0003193 Nasal allergies NOT_TRANSLATED +HP:0003194 Decreased length of bridge of nose NOT_TRANSLATED +HP:0003194 Decreased length of nasal bridge NOT_TRANSLATED +HP:0003194 Short bridge of nose NOT_TRANSLATED +HP:0003196 Decreased length of nose NOT_TRANSLATED +HP:0003196 Hypoplastic nose NOT_TRANSLATED +HP:0003196 Nasal hypoplasia NOT_TRANSLATED +HP:0003196 Shortened nose NOT_TRANSLATED +HP:0003196 Small nose NOT_TRANSLATED +HP:0003198 Muscle tissue disease NOT_TRANSLATED +HP:0003198 Myopathic changes NOT_TRANSLATED +HP:0003200 Mitochondrial proliferation in muscle tissue NOT_TRANSLATED +HP:0003200 Ragged red muscle fibers NOT_TRANSLATED +HP:0003200 Ragged red muscle fibres NOT_TRANSLATED +HP:0003200 Ragged-red fibers NOT_TRANSLATED +HP:0003200 Ragged-red fibres NOT_TRANSLATED +HP:0003200 Ragged-red muscle fibres NOT_TRANSLATED +HP:0003201 Breakdown of skeletal muscle NOT_TRANSLATED +HP:0003202 Amyotrophy NOT_TRANSLATED +HP:0003202 Amyotrophy involving the extremities NOT_TRANSLATED +HP:0003202 Muscle atrophy NOT_TRANSLATED +HP:0003202 Muscle atrophy, neurogenic NOT_TRANSLATED +HP:0003202 Muscle degeneration NOT_TRANSLATED +HP:0003202 Muscle hypotrophy NOT_TRANSLATED +HP:0003202 Muscle wasting NOT_TRANSLATED +HP:0003202 Muscular atrophy NOT_TRANSLATED +HP:0003202 Neurogenic muscle atrophy NOT_TRANSLATED +HP:0003202 Neurogenic muscle atrophy, especially in the lower limbs NOT_TRANSLATED +HP:0003202 Neurogenic muscular atrophy NOT_TRANSLATED +HP:0003203 Negative NBT reduction test NOT_TRANSLATED +HP:0003203 Negative nitroblue tetrazolium reduction test NOT_TRANSLATED +HP:0003205 Curvilinear profiles ultrastructurally NOT_TRANSLATED +HP:0003205 Curvilinear profiles ultrastructurally in cells NOT_TRANSLATED +HP:0003205 Intracellular curvilinear profiles on ultrastructural analysis NOT_TRANSLATED +HP:0003208 Fingerprint profiles ultrastructurally NOT_TRANSLATED +HP:0003208 Fingerprint profiles ultrastructurally in cells NOT_TRANSLATED +HP:0003210 Decreased methylmalonyl CoA mutase activity NOT_TRANSLATED +HP:0003212 Elevated immunoglobulin E NOT_TRANSLATED +HP:0003212 Elevated serum IgE NOT_TRANSLATED +HP:0003212 High immunoglobulin E NOT_TRANSLATED +HP:0003215 Elevated urinary dicarboxylic acid level NOT_TRANSLATED +HP:0003216 Generalised amyloid deposition NOT_TRANSLATED +HP:0003217 High plasma glutamine NOT_TRANSLATED +HP:0003218 High urine orotic acid levels NOT_TRANSLATED +HP:0003218 Increased urinary orotic acid concentration NOT_TRANSLATED +HP:0003218 Orotic aciduria NOT_TRANSLATED +HP:0003221 Chromosomal breakage induced by diepoxybutane NOT_TRANSLATED +HP:0003221 Chromosomal breakage induced by mitomycin C NOT_TRANSLATED +HP:0003223 Methylcobalamin deficiency NOT_TRANSLATED +HP:0003225 Factor V deficiency NOT_TRANSLATED +HP:0003225 Reduced factor V activity NOT_TRANSLATED +HP:0003226 Rectilinear profiles ultrastructurally NOT_TRANSLATED +HP:0003228 High blood sodium levels NOT_TRANSLATED +HP:0003231 Increased tyrosine in blood NOT_TRANSLATED +HP:0003231 Tyrosinemia NOT_TRANSLATED +HP:0003232 Decreased mitochondrial malic enzyme NOT_TRANSLATED +HP:0003233 Decreased HDL cholesterol NOT_TRANSLATED +HP:0003233 Decreased circulating high-density lipoprotein cholesterol NOT_TRANSLATED +HP:0003233 Decreased circulating high-density lipoprotein levels NOT_TRANSLATED +HP:0003233 Hypoalphalipoproteinemia NOT_TRANSLATED +HP:0003233 Low HDL-cholesterol NOT_TRANSLATED +HP:0003234 Carnitine deficiency NOT_TRANSLATED +HP:0003235 Increased methionine in blood NOT_TRANSLATED +HP:0003235 Methioninemia NOT_TRANSLATED +HP:0003236 Elevated blood creatine phosphokinase NOT_TRANSLATED +HP:0003236 Elevated circulating creatine phosphokinase NOT_TRANSLATED +HP:0003236 Elevated creatine kinase NOT_TRANSLATED +HP:0003236 Elevated serum CPK NOT_TRANSLATED +HP:0003236 Elevated serum creatine kinase NOT_TRANSLATED +HP:0003236 Elevated serum creatine phosphokinase NOT_TRANSLATED +HP:0003236 High serum creatine kinase NOT_TRANSLATED +HP:0003236 Increased CPK NOT_TRANSLATED +HP:0003236 Increased creatine kinase NOT_TRANSLATED +HP:0003236 Increased creatine phosphokinase NOT_TRANSLATED +HP:0003236 Increased serum CK NOT_TRANSLATED +HP:0003236 Increased serum creatine kinase NOT_TRANSLATED +HP:0003236 Increased serum creatine phosphokinase NOT_TRANSLATED +HP:0003237 Increased IgG level NOT_TRANSLATED +HP:0003237 Increased levels of IgG NOT_TRANSLATED +HP:0003237 Increased total IgG in blood NOT_TRANSLATED +HP:0003239 High urine phosphoethanolamine levels NOT_TRANSLATED +HP:0003239 Increased level of O-phosphoethanolamine in urine NOT_TRANSLATED +HP:0003239 Increased urine O-phosphoethanolamine level NOT_TRANSLATED +HP:0003240 Increased PRPS1 activity NOT_TRANSLATED +HP:0003240 Increased phosphoribosyl pyrophosphate synthetase activity NOT_TRANSLATED +HP:0003241 Hypogenitalism NOT_TRANSLATED +HP:0003241 Small genitalia NOT_TRANSLATED +HP:0003241 Underdevelopment of external reproductive organs NOT_TRANSLATED +HP:0003246 Prominent perineal raphe NOT_TRANSLATED +HP:0003250 Absent vagina NOT_TRANSLATED +HP:0003250 Congenital absence of the vagina NOT_TRANSLATED +HP:0003256 Coagulopathy NOT_TRANSLATED +HP:0003259 Elevated creatinine NOT_TRANSLATED +HP:0003259 Elevated serum creatinine NOT_TRANSLATED +HP:0003259 High blood creatinine level NOT_TRANSLATED +HP:0003259 Increased creatinine NOT_TRANSLATED +HP:0003259 Increased serum creatinine NOT_TRANSLATED +HP:0003260 High blood hydroxyproline levels NOT_TRANSLATED +HP:0003261 Elevated IgA NOT_TRANSLATED +HP:0003261 Elevated serum IgA NOT_TRANSLATED +HP:0003261 IgA hypergammaglobulinemia NOT_TRANSLATED +HP:0003261 Increased levels of IgA NOT_TRANSLATED +HP:0003261 Increased serum IgA NOT_TRANSLATED +HP:0003262 Anti-smooth muscle antibody positivity NOT_TRANSLATED +HP:0003262 Smooth muscle antibody positive NOT_TRANSLATED +HP:0003265 High blood bilirubin levels in neonate NOT_TRANSLATED +HP:0003265 Hyperbilirubinemia, neonatal NOT_TRANSLATED +HP:0003267 Orotidine-5-prime-phosphate decarboxylase defect NOT_TRANSLATED +HP:0003268 High urine arginine levels NOT_TRANSLATED +HP:0003270 Abdominal bloating NOT_TRANSLATED +HP:0003270 Abdominal distension NOT_TRANSLATED +HP:0003270 Abdominal swelling NOT_TRANSLATED +HP:0003270 Belly bloating NOT_TRANSLATED +HP:0003270 Bloating NOT_TRANSLATED +HP:0003270 Distended abdomen NOT_TRANSLATED +HP:0003272 Abnormality of the hip bone NOT_TRANSLATED +HP:0003272 Abnormality of the hips NOT_TRANSLATED +HP:0003273 Flexion contracture of hips NOT_TRANSLATED +HP:0003273 Flexion contractures of hips NOT_TRANSLATED +HP:0003273 Hip contractures NOT_TRANSLATED +HP:0003273 Hip flexion contractures NOT_TRANSLATED +HP:0003274 Acetabular hypoplasia NOT_TRANSLATED +HP:0003274 Hypoplastic acetabula NOT_TRANSLATED +HP:0003275 Narrow pelvis NOT_TRANSLATED +HP:0003276 Pelvic exostoses NOT_TRANSLATED +HP:0003277 Constricted iliac wings NOT_TRANSLATED +HP:0003278 Square pelvis NOT_TRANSLATED +HP:0003278 Squared off pelvis NOT_TRANSLATED +HP:0003281 Elevated serum ferritin NOT_TRANSLATED +HP:0003281 High ferritin level NOT_TRANSLATED +HP:0003281 Hyperferritinaemia NOT_TRANSLATED +HP:0003281 Hyperferritinemia NOT_TRANSLATED +HP:0003281 Increased ferritin NOT_TRANSLATED +HP:0003281 Increased plasma ferritin NOT_TRANSLATED +HP:0003281 Increased serum ferritin level NOT_TRANSLATED +HP:0003282 Decreased serum alkaline phosphatase NOT_TRANSLATED +HP:0003282 Low ALP NOT_TRANSLATED +HP:0003286 High blood cystathionine levels NOT_TRANSLATED +HP:0003287 Mitochondrial dysfunction NOT_TRANSLATED +HP:0003288 Mitochondrial PCC defect NOT_TRANSLATED +HP:0003292 Reduced circulating leptin level NOT_TRANSLATED +HP:0003296 High urine threonine levels NOT_TRANSLATED +HP:0003297 High urine lysine levels NOT_TRANSLATED +HP:0003297 Lysinuria NOT_TRANSLATED +HP:0003300 Bullet vertebral body NOT_TRANSLATED +HP:0003300 Oval vertebral bodies NOT_TRANSLATED +HP:0003300 Ovoid vertebrae NOT_TRANSLATED +HP:0003300 Ovoid-shaped vertebral bodies NOT_TRANSLATED +HP:0003301 Irregular end plates NOT_TRANSLATED +HP:0003301 Irregular endplates NOT_TRANSLATED +HP:0003301 end-plate irregularities NOT_TRANSLATED +HP:0003301 endplate irregularities NOT_TRANSLATED +HP:0003301 endplate irregularity NOT_TRANSLATED +HP:0003301 irregular vertebral plates NOT_TRANSLATED +HP:0003301 vertebral endplate irregularity NOT_TRANSLATED +HP:0003302 Displacement of one backbone compared to another NOT_TRANSLATED +HP:0003302 Slipped backbone NOT_TRANSLATED +HP:0003302 Spondylolithesis NOT_TRANSLATED +HP:0003306 Reduced spine movement NOT_TRANSLATED +HP:0003306 Rigid spine NOT_TRANSLATED +HP:0003307 Lordosis NOT_TRANSLATED +HP:0003307 Prominent swayback NOT_TRANSLATED +HP:0003309 Ovoid thoracic and lumbar vertebrae NOT_TRANSLATED +HP:0003310 Abnormal odontoid peg NOT_TRANSLATED +HP:0003310 Abnormal odontoid process NOT_TRANSLATED +HP:0003311 Hypoplastic odontoid process NOT_TRANSLATED +HP:0003311 Odontoid hypoplasia NOT_TRANSLATED +HP:0003311 Small odontoid peg NOT_TRANSLATED +HP:0003311 Small odontoid process NOT_TRANSLATED +HP:0003312 Abnormally shaped vertebrae NOT_TRANSLATED +HP:0003316 Anterior rachischisis NOT_TRANSLATED +HP:0003316 Sagittal clefting of vertebrae NOT_TRANSLATED +HP:0003318 Cervical spine joint hypermobility NOT_TRANSLATED +HP:0003319 Abnormal cervical spine NOT_TRANSLATED +HP:0003319 Abnormality of cervical vertebra NOT_TRANSLATED +HP:0003319 Abnormality of the cervical vertebrae NOT_TRANSLATED +HP:0003319 Cervical spine abnormalities NOT_TRANSLATED +HP:0003319 Cervical vertebral abnormalities NOT_TRANSLATED +HP:0003319 Cervical vertebral anomalies NOT_TRANSLATED +HP:0003319 Disorder of cervical vertebra NOT_TRANSLATED +HP:0003323 Muscle weakness, progressive NOT_TRANSLATED +HP:0003323 Progressive muscular weakness NOT_TRANSLATED +HP:0003324 Generalised muscle weakness NOT_TRANSLATED +HP:0003324 Generalised weakness NOT_TRANSLATED +HP:0003324 Generalized weakness NOT_TRANSLATED +HP:0003324 Muscle weakness, diffuse NOT_TRANSLATED +HP:0003324 Muscle weakness, generalised NOT_TRANSLATED +HP:0003324 Muscle weakness, generalized NOT_TRANSLATED +HP:0003325 Limb girdle weakness NOT_TRANSLATED +HP:0003325 Muscle weakness, limb-girdle NOT_TRANSLATED +HP:0003325 Muscular weakness, limb-girdle NOT_TRANSLATED +HP:0003326 Muscle ache NOT_TRANSLATED +HP:0003326 Muscle pain NOT_TRANSLATED +HP:0003326 Myalgias NOT_TRANSLATED +HP:0003337 Poor prothrombin consumption NOT_TRANSLATED +HP:0003339 Anaemia corrected by uridylic acid and cytidylic acid NOT_TRANSLATED +HP:0003339 Anemia corrected by uridylic acid and cytidylic acid NOT_TRANSLATED +HP:0003339 Pyrimidine-responsive megaloblastic anaemia NOT_TRANSLATED +HP:0003341 Blistering with junctional split NOT_TRANSLATED +HP:0003341 Junctional split NOT_TRANSLATED +HP:0003341 Subepidermal blistering with cleavage in the lamina lucida NOT_TRANSLATED +HP:0003343 Glutathione synthetase deficiency NOT_TRANSLATED +HP:0003344 3-methylglutaricaciduria NOT_TRANSLATED +HP:0003348 Increased blood alanine NOT_TRANSLATED +HP:0003348 Increased serum alanine NOT_TRANSLATED +HP:0003351 Decreased plasma renin activity NOT_TRANSLATED +HP:0003351 Low plasma renin activity NOT_TRANSLATED +HP:0003351 Suppressed plasma renin activity NOT_TRANSLATED +HP:0003354 Elevated circulating threonine NOT_TRANSLATED +HP:0003354 High blood threonine levels NOT_TRANSLATED +HP:0003355 Abnormal urinary amino-acid findings NOT_TRANSLATED +HP:0003355 High urine amino acid levels NOT_TRANSLATED +HP:0003355 Hyperaminoaciduria NOT_TRANSLATED +HP:0003355 Increased levels of animo acids in urine NOT_TRANSLATED +HP:0003357 Decreased thymic hormone NOT_TRANSLATED +HP:0003359 Decreased urinary sulphate NOT_TRANSLATED +HP:0003361 High urine tryptophan levels NOT_TRANSLATED +HP:0003362 Increased circulating very-low-density lipoprotein cholesterol NOT_TRANSLATED +HP:0003362 Increased circulating very-low-density lipoprotein levels NOT_TRANSLATED +HP:0003362 Increased plasma VLDL cholesterol NOT_TRANSLATED +HP:0003363 Situs inversus visceralis NOT_TRANSLATED +HP:0003363 Situs inversus viscerum NOT_TRANSLATED +HP:0003365 Coxalgia NOT_TRANSLATED +HP:0003365 Hip arthralgia NOT_TRANSLATED +HP:0003365 Hip joint pain NOT_TRANSLATED +HP:0003366 Abnormal neck or head of thigh bone NOT_TRANSLATED +HP:0003366 Abnormality of the femoral neck or head region NOT_TRANSLATED +HP:0003367 Abnormal neck of thigh bone NOT_TRANSLATED +HP:0003367 Abnormality of the femoral neck NOT_TRANSLATED +HP:0003368 Abnormal head of thigh bone NOT_TRANSLATED +HP:0003368 Abnormality of the femoral head NOT_TRANSLATED +HP:0003370 Flat capital femoral epiphyses NOT_TRANSLATED +HP:0003370 Flat end part of innermost thighbone NOT_TRANSLATED +HP:0003370 Flat femoral capital epiphyses NOT_TRANSLATED +HP:0003370 Flat proximal femoral epiphyses NOT_TRANSLATED +HP:0003370 Flattened proximal femoral epiphyses NOT_TRANSLATED +HP:0003371 Enlarged capital femoral epiphyses NOT_TRANSLATED +HP:0003371 Enlarged end part of innermost thighbone NOT_TRANSLATED +HP:0003375 Narrow greater sacrosciatic notches NOT_TRANSLATED +HP:0003375 Narrow sacroiliac notch NOT_TRANSLATED +HP:0003375 Narrow sacrosciatic notch NOT_TRANSLATED +HP:0003375 Narrow sciatic notches NOT_TRANSLATED +HP:0003375 Narrowed greater sciatic notch NOT_TRANSLATED +HP:0003375 Narrowed sacrosciatic notch NOT_TRANSLATED +HP:0003375 Small sacrosciatic notch NOT_TRANSLATED +HP:0003375 Small sacrosciatic notches NOT_TRANSLATED +HP:0003376 High stepping NOT_TRANSLATED +HP:0003378 Axon degeneration and regeneration NOT_TRANSLATED +HP:0003380 Decreased number of large and small myelinated fibers NOT_TRANSLATED +HP:0003380 Decreased number of large and small myelinated fibres NOT_TRANSLATED +HP:0003380 Decreased number of peripheral myelinated nerve fibres NOT_TRANSLATED +HP:0003380 Loss of myelinated fibers NOT_TRANSLATED +HP:0003380 Loss of myelinated fibres NOT_TRANSLATED +HP:0003383 Onion bulb formations NOT_TRANSLATED +HP:0003387 Decreased number of large peripheral myelinated nerve fibres NOT_TRANSLATED +HP:0003387 Depletion of large myelinated fibers NOT_TRANSLATED +HP:0003387 Depletion of large myelinated fibres NOT_TRANSLATED +HP:0003387 Loss of large myelinated fibers NOT_TRANSLATED +HP:0003387 Loss of large myelinated fibres NOT_TRANSLATED +HP:0003387 Loss of larger myelinated nerve fibers NOT_TRANSLATED +HP:0003387 Loss of larger myelinated nerve fibres NOT_TRANSLATED +HP:0003388 Tired easily NOT_TRANSLATED +HP:0003390 Axonal sensory neuropathy NOT_TRANSLATED +HP:0003390 Peripheral sensory axonal neuropathy NOT_TRANSLATED +HP:0003391 Gower sign NOT_TRANSLATED +HP:0003391 Positive Gower sign NOT_TRANSLATED +HP:0003391 Positive Gowers sign NOT_TRANSLATED +HP:0003393 Thenar atrophy NOT_TRANSLATED +HP:0003394 Muscle cramps NOT_TRANSLATED +HP:0003396 Fluid-filled cyst in spinal cord NOT_TRANSLATED +HP:0003396 Syrinx NOT_TRANSLATED +HP:0003397 Generalised hypotonia due to defect at the neuromuscular junction NOT_TRANSLATED +HP:0003398 Abnormality of neuromuscular transmission NOT_TRANSLATED +HP:0003400 Basal lamina 'onion bulb' formations on nerve biopsy NOT_TRANSLATED +HP:0003401 Paresthesias NOT_TRANSLATED +HP:0003401 Pins and needles feeling NOT_TRANSLATED +HP:0003401 Tingling NOT_TRANSLATED +HP:0003402 Decreased MEPP NOT_TRANSLATED +HP:0003402 Small miniature endplate currents NOT_TRANSLATED +HP:0003402 Small miniature endplate potentials NOT_TRANSLATED +HP:0003403 EMG: decrement at repetitive stimulation NOT_TRANSLATED +HP:0003403 EMG: decremental response of CMAP to repetitive nerve stimulation NOT_TRANSLATED +HP:0003409 Distal sensory loss to all modalities NOT_TRANSLATED +HP:0003411 Irregular proximal femoral metaphyses NOT_TRANSLATED +HP:0003414 Atlanto-axial subluxation NOT_TRANSLATED +HP:0003414 Atlantoaxial subluxation NOT_TRANSLATED +HP:0003416 Narrow spinal canal NOT_TRANSLATED +HP:0003416 Spinal stenosis NOT_TRANSLATED +HP:0003417 Coronal clefts NOT_TRANSLATED +HP:0003417 Coronal vertebral clefts NOT_TRANSLATED +HP:0003417 Vertebral coronal clefts NOT_TRANSLATED +HP:0003417 coronal cleft of vertebrae NOT_TRANSLATED +HP:0003419 Lower back pain NOT_TRANSLATED +HP:0003422 Abnormal spinal segmentation NOT_TRANSLATED +HP:0003423 Dorsolumbar kyphosis NOT_TRANSLATED +HP:0003431 Decreased motor NCV NOT_TRANSLATED +HP:0003431 Decreased motor nerve conduction velocities NOT_TRANSLATED +HP:0003431 Reduced motor nerve conduction velocity NOT_TRANSLATED +HP:0003436 Prolonged MEPC NOT_TRANSLATED +HP:0003436 Prolonged MEPP NOT_TRANSLATED +HP:0003436 Prolonged miniature endplate potentials NOT_TRANSLATED +HP:0003438 Absent ankle reflexes NOT_TRANSLATED +HP:0003445 EMG: neurogenic abnormalities NOT_TRANSLATED +HP:0003445 EMG: neurogenic changes NOT_TRANSLATED +HP:0003445 EMG: neurogenic findings NOT_TRANSLATED +HP:0003448 Decreased sensory NCV NOT_TRANSLATED +HP:0003448 Decreased sensory nerve conduction velocities NOT_TRANSLATED +HP:0003450 Regenerative activity on nerve biopsy NOT_TRANSLATED +HP:0003453 Antineutrophil antibodies NOT_TRANSLATED +HP:0003453 Neutrophil antibody positive NOT_TRANSLATED +HP:0003454 Platelet antibody NOT_TRANSLATED +HP:0003455 Elevated long chain fatty acids NOT_TRANSLATED +HP:0003455 Elevated serum long-chain fatty acids NOT_TRANSLATED +HP:0003455 Increased serum long-chain fatty acids NOT_TRANSLATED +HP:0003457 Abnormal EMG NOT_TRANSLATED +HP:0003457 Abnormal electromyography finding NOT_TRANSLATED +HP:0003457 EMG abnormalities NOT_TRANSLATED +HP:0003457 Electromyogram abnormal NOT_TRANSLATED +HP:0003458 EMG: myopathic changes NOT_TRANSLATED +HP:0003458 EMG: myopathy NOT_TRANSLATED +HP:0003458 Myopathic electromyogram NOT_TRANSLATED +HP:0003460 Decreased total IgA in blood NOT_TRANSLATED +HP:0003460 Total immunoglobulin A deficiency NOT_TRANSLATED +HP:0003463 Lipopigment in extraneuronal cells NOT_TRANSLATED +HP:0003468 Abnormal vertebrae NOT_TRANSLATED +HP:0003468 Abnormal vertebral bodies NOT_TRANSLATED +HP:0003468 Abnormality of the vertebrae NOT_TRANSLATED +HP:0003468 Multiple vertebral anomalies NOT_TRANSLATED +HP:0003468 Vertebral anomalies NOT_TRANSLATED +HP:0003470 Inability to move NOT_TRANSLATED +HP:0003473 Fatigable weakness of limb muscles NOT_TRANSLATED +HP:0003473 Generalised muscle weakness due to defect at the neuromuscular junction NOT_TRANSLATED +HP:0003473 Generalized muscle weakness due to defect at the neuromuscular junction NOT_TRANSLATED +HP:0003473 Myasthenia NOT_TRANSLATED +HP:0003473 Myasthenic weakness NOT_TRANSLATED +HP:0003473 Proximal muscle weakness due to defect at the neuromuscular junction NOT_TRANSLATED +HP:0003474 Sensory impairment NOT_TRANSLATED +HP:0003477 Axonal neuropathy NOT_TRANSLATED +HP:0003477 Axonal peripheral neuropathy NOT_TRANSLATED +HP:0003481 Segmental demyelination/remyelination NOT_TRANSLATED +HP:0003484 Decreased arm strength NOT_TRANSLATED +HP:0003484 Weak arm NOT_TRANSLATED +HP:0003487 Extensor plantar reflexes NOT_TRANSLATED +HP:0003487 Extensor plantar response NOT_TRANSLATED +HP:0003487 Extensor plantar responses NOT_TRANSLATED +HP:0003487 Positive Babinski sign NOT_TRANSLATED +HP:0003493 Antinuclear antibodies NOT_TRANSLATED +HP:0003493 Antinuclear antibody positive NOT_TRANSLATED +HP:0003493 Elevated antinuclear antibody NOT_TRANSLATED +HP:0003493 Serum antinuclear antibody NOT_TRANSLATED +HP:0003496 Increased IgM levels NOT_TRANSLATED +HP:0003496 Increased levels of IgM NOT_TRANSLATED +HP:0003498 Short stature, disproportionate NOT_TRANSLATED +HP:0003498 Short stature, severe disproportionate NOT_TRANSLATED +HP:0003502 Relative short stature NOT_TRANSLATED +HP:0003502 short stature, mild NOT_TRANSLATED +HP:0003508 Proportionate small stature NOT_TRANSLATED +HP:0003508 Short stature, proportionate NOT_TRANSLATED +HP:0003510 Dwarfism NOT_TRANSLATED +HP:0003510 Proportionate dwarfism NOT_TRANSLATED +HP:0003510 Short stature, extreme NOT_TRANSLATED +HP:0003510 Short stature, severe NOT_TRANSLATED +HP:0003513 Reduced ration of kidney calcium clearance to creatinine clearance NOT_TRANSLATED +HP:0003513 Reduced ration of renal Ca clearance to creatinine clearance NOT_TRANSLATED +HP:0003513 Reduced ration of renal Ca2+ to creatinine clearance NOT_TRANSLATED +HP:0003514 Deficiency or absence of cytochrome b NOT_TRANSLATED +HP:0003517 Fetal overgrowth NOT_TRANSLATED +HP:0003517 Foetal overgrowth NOT_TRANSLATED +HP:0003521 Disproportionate short-trunked dwarfism NOT_TRANSLATED +HP:0003521 Disproportionate short-trunked short stature NOT_TRANSLATED +HP:0003521 Short-trunked dwarfism NOT_TRANSLATED +HP:0003524 Decreased activity of methionine synthase NOT_TRANSLATED +HP:0003524 Methionine synthase activity decreased NOT_TRANSLATED +HP:0003524 Methionine synthase deficiency NOT_TRANSLATED +HP:0003524 Reduced methionine synthase activity NOT_TRANSLATED +HP:0003527 High urine prostaglandin levels NOT_TRANSLATED +HP:0003529 Parathormone-independent increased renal tubular Ca reabsorption NOT_TRANSLATED +HP:0003529 Parathormone-independent increased renal tubular Ca2+ reabsorption NOT_TRANSLATED +HP:0003530 Glutarate acidemia NOT_TRANSLATED +HP:0003530 Glutaric acidemia NOT_TRANSLATED +HP:0003533 Delayed oxidation of acetaldehyde NOT_TRANSLATED +HP:0003534 Xanthine dehydrogenase deficiency NOT_TRANSLATED +HP:0003535 3-Methylglutaconicaciduria NOT_TRANSLATED +HP:0003537 Low blood uric acid levels NOT_TRANSLATED +HP:0003538 Increased serum iduronate sulfatase NOT_TRANSLATED +HP:0003538 Increased serum iduronate sulfatase level NOT_TRANSLATED +HP:0003540 Defective platelet aggregation NOT_TRANSLATED +HP:0003540 Deficient platelet aggregation NOT_TRANSLATED +HP:0003540 Platelet aggregation defect NOT_TRANSLATED +HP:0003542 Increased serum pyruvic acid NOT_TRANSLATED +HP:0003546 Decreased ability to exercise NOT_TRANSLATED +HP:0003546 Inability to exercise NOT_TRANSLATED +HP:0003546 Low exercise endurance NOT_TRANSLATED +HP:0003546 Poor exercise tolerance NOT_TRANSLATED +HP:0003547 Muscle weakness, shoulder-girdle NOT_TRANSLATED +HP:0003547 Shoulder girdle weakness NOT_TRANSLATED +HP:0003547 Shoulder weakness NOT_TRANSLATED +HP:0003547 Weak shoulder muscles NOT_TRANSLATED +HP:0003551 Difficulty walking up stairs NOT_TRANSLATED +HP:0003554 Type 2 fiber atrophy NOT_TRANSLATED +HP:0003554 Type 2 fibre atrophy NOT_TRANSLATED +HP:0003554 Type 2 muscle fibre atrophy NOT_TRANSLATED +HP:0003555 Fiber splitting NOT_TRANSLATED +HP:0003555 Fibre splitting NOT_TRANSLATED +HP:0003555 Muscle fibre splitting NOT_TRANSLATED +HP:0003557 Increased fiber size variation NOT_TRANSLATED +HP:0003557 Increased fibre size variation NOT_TRANSLATED +HP:0003557 Increased variability in muscle fiber size NOT_TRANSLATED +HP:0003557 Increased variability in muscle fibre diameter NOT_TRANSLATED +HP:0003557 Increased variability in muscle fibre size NOT_TRANSLATED +HP:0003557 Increased variation in fiber size NOT_TRANSLATED +HP:0003557 Increased variation in fibre size NOT_TRANSLATED +HP:0003557 Increased variation in muscle fiber size NOT_TRANSLATED +HP:0003557 Increased variation in muscle fibre size NOT_TRANSLATED +HP:0003557 Variation in muscle fiber size NOT_TRANSLATED +HP:0003557 Variation in muscle fibre size NOT_TRANSLATED +HP:0003560 Muscle biopsy shows dystrophic changes NOT_TRANSLATED +HP:0003561 Birth length < 3rd percentile NOT_TRANSLATED +HP:0003561 Birth length <3rd percentile NOT_TRANSLATED +HP:0003563 Decreased LDL NOT_TRANSLATED +HP:0003563 Decreased LDLc concentration NOT_TRANSLATED +HP:0003563 Decreased circulating low-density lipoprotein levels NOT_TRANSLATED +HP:0003563 Hypobetalipoproteinemia NOT_TRANSLATED +HP:0003565 Elevated ESR NOT_TRANSLATED +HP:0003565 Elevated sedimentation rate NOT_TRANSLATED +HP:0003565 High ESR NOT_TRANSLATED +HP:0003565 High erythrocyte sedimentation rate NOT_TRANSLATED +HP:0003565 Increased erythrocyte sedimentation rate NOT_TRANSLATED +HP:0003565 Raised erythrocyte sedimentation rate NOT_TRANSLATED +HP:0003566 Elevated prostaglandin E2 NOT_TRANSLATED +HP:0003568 Decreased glucose phosphate isomerase activity NOT_TRANSLATED +HP:0003568 Glucosephosphate isomerase deficiency NOT_TRANSLATED +HP:0003568 Phosphohexose isomerase deficiency NOT_TRANSLATED +HP:0003573 High bili total NOT_TRANSLATED +HP:0003573 Increased bilirubin NOT_TRANSLATED +HP:0003575 High intracellular Na NOT_TRANSLATED +HP:0003575 Increased intracellular Na+ levels NOT_TRANSLATED +HP:0003577 Onset at birth NOT_TRANSLATED +HP:0003577 Symptoms present at birth NOT_TRANSLATED +HP:0003581 Onset in adulthood NOT_TRANSLATED +HP:0003581 Onset in early adulthood NOT_TRANSLATED +HP:0003581 Symptoms begin in adulthood NOT_TRANSLATED +HP:0003587 Gradual onset NOT_TRANSLATED +HP:0003593 Onset in first year of life NOT_TRANSLATED +HP:0003593 Onset in infancy NOT_TRANSLATED +HP:0003607 Elevated urine 4-hydroxyphenylacetic acid level NOT_TRANSLATED +HP:0003612 Positive FeCl3 test NOT_TRANSLATED +HP:0003613 Antiphospholipid antibodies NOT_TRANSLATED +HP:0003613 Antiphospholipid antibody NOT_TRANSLATED +HP:0003613 Phospholipid antibody positivity NOT_TRANSLATED +HP:0003614 High urine trimethylamine levels NOT_TRANSLATED +HP:0003621 Signs and symptoms begin before 15 years of age NOT_TRANSLATED +HP:0003623 Onset in first weeks of life NOT_TRANSLATED +HP:0003623 Onset in neonatal period NOT_TRANSLATED +HP:0003634 Absent muscles since birth NOT_TRANSLATED +HP:0003634 Congenital absence of muscles NOT_TRANSLATED +HP:0003635 Loss of fat tissue below the skin in limbs NOT_TRANSLATED +HP:0003635 Loss of subcutaneous adipose tissue from extremities NOT_TRANSLATED +HP:0003637 Reducted HPPD activity NOT_TRANSLATED +HP:0003639 Increased urinary epinephrine NOT_TRANSLATED +HP:0003641 Haemoglobin in urine NOT_TRANSLATED +HP:0003641 Hemoglobin in urine NOT_TRANSLATED +HP:0003642 Abnormal isoelectric focusing of serum transferrin, type I pattern NOT_TRANSLATED +HP:0003642 Isoelectric focusing of serum transferrin consistent with CDG type I NOT_TRANSLATED +HP:0003642 Type 1 transferrin isoform profile NOT_TRANSLATED +HP:0003645 Abnormal partial thromboplastin time NOT_TRANSLATED +HP:0003645 Delayed thromboplastin generation NOT_TRANSLATED +HP:0003645 Partial thromboplastin time prolonged NOT_TRANSLATED +HP:0003645 Prolonged PTT NOT_TRANSLATED +HP:0003645 Prolonged activated partial thromboplastin time NOT_TRANSLATED +HP:0003646 Increased urine HCO3 concentration NOT_TRANSLATED +HP:0003646 Increased urine bicarbonate concentration NOT_TRANSLATED +HP:0003648 High urine lactic acid levels NOT_TRANSLATED +HP:0003648 Increased urine lactate NOT_TRANSLATED +HP:0003651 Foamy histiocytes NOT_TRANSLATED +HP:0003651 Foamy macrophages NOT_TRANSLATED +HP:0003651 Lipid-laden histiocytes NOT_TRANSLATED +HP:0003651 Presence of foam cells NOT_TRANSLATED +HP:0003652 Myoglobinuria, episodic NOT_TRANSLATED +HP:0003652 Myoglobinuria, recurrent NOT_TRANSLATED +HP:0003654 Dihydropyrimidine dehydrogenase deficiency NOT_TRANSLATED +HP:0003655 Deficient N-acetylglucosaminyltransferase II NOT_TRANSLATED +HP:0003656 Decreased lysosomal acid glucosylceramidase activity NOT_TRANSLATED +HP:0003658 Decreased plasma methionine NOT_TRANSLATED +HP:0003658 Decreased serum methionine NOT_TRANSLATED +HP:0003674 Age of onset NOT_TRANSLATED +HP:0003674 Age symptoms begin NOT_TRANSLATED +HP:0003676 Progressive disorder NOT_TRANSLATED +HP:0003676 Worsens with time NOT_TRANSLATED +HP:0003677 Signs and symptoms worsen slowly with time NOT_TRANSLATED +HP:0003677 Slow disease progression NOT_TRANSLATED +HP:0003677 Slow progression NOT_TRANSLATED +HP:0003677 Slowly progressive disorder NOT_TRANSLATED +HP:0003678 Rapid progression NOT_TRANSLATED +HP:0003678 Rapidly progressive disorder NOT_TRANSLATED +HP:0003678 Worsening quickly NOT_TRANSLATED +HP:0003680 Does not worsen NOT_TRANSLATED +HP:0003680 Non-progressive NOT_TRANSLATED +HP:0003680 Nonprogressive course NOT_TRANSLATED +HP:0003680 Nonprogressive disorder NOT_TRANSLATED +HP:0003680 Stationary NOT_TRANSLATED +HP:0003687 Central nuclei NOT_TRANSLATED +HP:0003687 Centralised nuclei NOT_TRANSLATED +HP:0003687 Centralised sarcomeric nuclei NOT_TRANSLATED +HP:0003687 Centralized nuclei NOT_TRANSLATED +HP:0003687 Centralized sarcomeric nuclei NOT_TRANSLATED +HP:0003687 Centrally nucleated skeletal muscle fibres NOT_TRANSLATED +HP:0003688 Cytochrome C oxidase-negative muscle fibres NOT_TRANSLATED +HP:0003688 Cytochrome c oxidase deficiency in skeletal muscle NOT_TRANSLATED +HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue NOT_TRANSLATED +HP:0003688 Decreased skeletal muscle cytochrome c oxidase activity NOT_TRANSLATED +HP:0003689 Multiple mtDNA deletions NOT_TRANSLATED +HP:0003690 Limb weakness NOT_TRANSLATED +HP:0003691 Scapula alata NOT_TRANSLATED +HP:0003691 Scapular weakness NOT_TRANSLATED +HP:0003691 Winged scapulae NOT_TRANSLATED +HP:0003691 Winged scapulas NOT_TRANSLATED +HP:0003691 Winged shoulder blade NOT_TRANSLATED +HP:0003693 Amyotrophy of distal limb muscles NOT_TRANSLATED +HP:0003693 Distal amyotrophy, especially of the hands and feet NOT_TRANSLATED +HP:0003693 Distal limb muscle atrophy NOT_TRANSLATED +HP:0003693 Distal muscle atrophy NOT_TRANSLATED +HP:0003693 Distal muscle atrophy, upper and lower limbs NOT_TRANSLATED +HP:0003693 Distal muscle degeneration NOT_TRANSLATED +HP:0003693 Distal muscle wasting NOT_TRANSLATED +HP:0003693 Distal muscular atrophy NOT_TRANSLATED +HP:0003693 Muscle atrophy, distal NOT_TRANSLATED +HP:0003696 Absent end part of the outermost bone of the little finger NOT_TRANSLATED +HP:0003696 Absent end part of the outermost bone of the pinkie finger NOT_TRANSLATED +HP:0003696 Absent end part of the outermost bone of the pinky finger NOT_TRANSLATED +HP:0003697 Scapuloperoneal atrophy NOT_TRANSLATED +HP:0003698 Difficulty in standing NOT_TRANSLATED +HP:0003698 Standing instability NOT_TRANSLATED +HP:0003700 Diffuse amyotrophy NOT_TRANSLATED +HP:0003700 Diffuse muscle atrophy NOT_TRANSLATED +HP:0003700 Diffuse muscle wasting NOT_TRANSLATED +HP:0003700 Diffuse skeletal muscle wasting NOT_TRANSLATED +HP:0003700 Generalised amyotrophy NOT_TRANSLATED +HP:0003700 Generalised muscle atrophy NOT_TRANSLATED +HP:0003700 Generalised muscle degeneration NOT_TRANSLATED +HP:0003700 Generalized muscle atrophy NOT_TRANSLATED +HP:0003700 Generalized muscle degeneration NOT_TRANSLATED +HP:0003700 Muscle atrophy, diffuse NOT_TRANSLATED +HP:0003700 Muscle atrophy, generalised NOT_TRANSLATED +HP:0003700 Muscle atrophy, generalized NOT_TRANSLATED +HP:0003700 Muscular atrophy, generalised NOT_TRANSLATED +HP:0003700 Muscular atrophy, generalized NOT_TRANSLATED +HP:0003701 Muscle weakness, proximal NOT_TRANSLATED +HP:0003701 Proximal limb muscle weakness NOT_TRANSLATED +HP:0003701 Proximal limb weakness NOT_TRANSLATED +HP:0003701 Proximal neurogenic muscle weakness NOT_TRANSLATED +HP:0003701 Weakness in muscles of upper arms and upper legs NOT_TRANSLATED +HP:0003704 Neurogenic scapuloperoneal syndrome NOT_TRANSLATED +HP:0003707 Pseudohypertrophy of the calves NOT_TRANSLATED +HP:0003710 Exercise-induced muscle cramping NOT_TRANSLATED +HP:0003710 Muscle cramps following exercise NOT_TRANSLATED +HP:0003710 Muscle cramps on exercise NOT_TRANSLATED +HP:0003710 Muscle cramps on exertion NOT_TRANSLATED +HP:0003710 Muscle cramps with exertion NOT_TRANSLATED +HP:0003712 Hypertrophic muscles NOT_TRANSLATED +HP:0003712 Increased skeletal muscle cells NOT_TRANSLATED +HP:0003712 Muscle hypertrophy NOT_TRANSLATED +HP:0003712 Muscular hypertrophy NOT_TRANSLATED +HP:0003713 Muscle fibre necrosis NOT_TRANSLATED +HP:0003715 Myofibrillar changes NOT_TRANSLATED +HP:0003716 Generalised muscular appearance from birth NOT_TRANSLATED +HP:0003717 Minimal fat below the skin NOT_TRANSLATED +HP:0003720 Generalised increase in muscle cell size NOT_TRANSLATED +HP:0003720 Generalised muscle hypertrophy NOT_TRANSLATED +HP:0003720 Generalized increase in muscle cell size NOT_TRANSLATED +HP:0003722 Neck flexion weakness NOT_TRANSLATED +HP:0003722 Neck flexor muscle weakness NOT_TRANSLATED +HP:0003724 Shoulder girdle atrophy NOT_TRANSLATED +HP:0003724 Shoulder girdle muscle wasting NOT_TRANSLATED +HP:0003724 Shoulder-girdle muscle atrophy NOT_TRANSLATED +HP:0003730 EMG: spontaneous, repetitive electrical activity NOT_TRANSLATED +HP:0003731 Quadriceps weakness NOT_TRANSLATED +HP:0003733 Increased thigh size NOT_TRANSLATED +HP:0003738 Exercise-induced muscle pain NOT_TRANSLATED +HP:0003738 Muscle pain on exercise NOT_TRANSLATED +HP:0003738 Muscle pain with exercise NOT_TRANSLATED +HP:0003738 Muscle pain, exercise-induced NOT_TRANSLATED +HP:0003741 Muscular dystrophy, congenital NOT_TRANSLATED +HP:0003743 Autosomal dominant with genetic anticipation NOT_TRANSLATED +HP:0003744 Paternal anticipation bias NOT_TRANSLATED +HP:0003745 Isolated cases NOT_TRANSLATED +HP:0003745 No previous family history NOT_TRANSLATED +HP:0003749 Hip girdle muscle weakness NOT_TRANSLATED +HP:0003749 Hip girdle weakness NOT_TRANSLATED +HP:0003749 Hip-girdle muscle weakness NOT_TRANSLATED +HP:0003749 Pelvic girdle weakness NOT_TRANSLATED +HP:0003750 Muscle fatigue NOT_TRANSLATED +HP:0003755 Type 1 fibres relatively smaller than type 2 fibres NOT_TRANSLATED +HP:0003758 Decreased subcutaneous adipose tissue NOT_TRANSLATED +HP:0003758 Decreased subcutaneous fat NOT_TRANSLATED +HP:0003758 Reduced fat tissue below the skin NOT_TRANSLATED +HP:0003758 Reduced subcutaneous fat NOT_TRANSLATED +HP:0003758 Scanty adipose tissue NOT_TRANSLATED +HP:0003759 Underdeveloped lymphatic vessels NOT_TRANSLATED +HP:0003761 Calcium buildup in soft tissues of body NOT_TRANSLATED +HP:0003762 Double uterus NOT_TRANSLATED +HP:0003763 Teeth grinding NOT_TRANSLATED +HP:0003764 Mole NOT_TRANSLATED +HP:0003764 Naevi NOT_TRANSLATED +HP:0003764 Naevus NOT_TRANSLATED +HP:0003764 Nevi NOT_TRANSLATED +HP:0003765 Psoriasis NOT_TRANSLATED +HP:0003768 Episodic paralysis NOT_TRANSLATED +HP:0003771 False denticles NOT_TRANSLATED +HP:0003771 False pulp stones NOT_TRANSLATED +HP:0003771 Pulp calcifications NOT_TRANSLATED +HP:0003771 Pulp denticles NOT_TRANSLATED +HP:0003771 Pulp stones NOT_TRANSLATED +HP:0003771 Pulpoliths NOT_TRANSLATED +HP:0003771 True denticles NOT_TRANSLATED +HP:0003771 True pulp stones NOT_TRANSLATED +HP:0003774 Chronic renal failure NOT_TRANSLATED +HP:0003774 End stage renal disease NOT_TRANSLATED +HP:0003774 End stage renal failure NOT_TRANSLATED +HP:0003774 End-stage renal disease NOT_TRANSLATED +HP:0003774 End-stage renal failure NOT_TRANSLATED +HP:0003774 Renal failure, endstage NOT_TRANSLATED +HP:0003777 Flattened and twisted hair NOT_TRANSLATED +HP:0003778 Decreased height of mandibular ramus NOT_TRANSLATED +HP:0003778 Decreased size of mandibular ramus NOT_TRANSLATED +HP:0003778 Short body and ramus of mandible NOT_TRANSLATED +HP:0003778 Short mandibular ramus NOT_TRANSLATED +HP:0003778 Underdeveloped mandibular rami NOT_TRANSLATED +HP:0003779 Deep antegonial notch of mandible NOT_TRANSLATED +HP:0003779 Large antegonial notch of mandible NOT_TRANSLATED +HP:0003781 Excessive production of saliva NOT_TRANSLATED +HP:0003781 Hypersalivation NOT_TRANSLATED +HP:0003781 Mouth watering NOT_TRANSLATED +HP:0003781 Oversalivation NOT_TRANSLATED +HP:0003781 Ptyalism NOT_TRANSLATED +HP:0003781 Watery mouth NOT_TRANSLATED +HP:0003787 Type 1 and type 2 muscle fibre minicore regions NOT_TRANSLATED +HP:0003795 Short middle bones (feet) NOT_TRANSLATED +HP:0003795 Short middle phalanges of toes NOT_TRANSLATED +HP:0003797 Limb-girdle myopathy NOT_TRANSLATED +HP:0003797 Wasting of limb-girdle muscle NOT_TRANSLATED +HP:0003798 Nemaline rods NOT_TRANSLATED +HP:0003799 Marked retardation in skeletal maturation NOT_TRANSLATED +HP:0003799 Markedly retarded bone age NOT_TRANSLATED +HP:0003803 Type 1 muscle fibre predominance NOT_TRANSLATED +HP:0003803 Type I muscle fiber predominance NOT_TRANSLATED +HP:0003803 Type I muscle fibre predominance NOT_TRANSLATED +HP:0003805 Rimmed vacuoles on biopsy NOT_TRANSLATED +HP:0003811 Neonatal lethal NOT_TRANSLATED +HP:0003812 Clinical heterogeneity NOT_TRANSLATED +HP:0003812 Highly variable clinical phenotype NOT_TRANSLATED +HP:0003812 Highly variable phenotype NOT_TRANSLATED +HP:0003812 Highly variable phenotype and severity NOT_TRANSLATED +HP:0003812 Highly variable phenotype, even within families NOT_TRANSLATED +HP:0003812 Variable phenotype NOT_TRANSLATED +HP:0003812 Variable phenotypic severity NOT_TRANSLATED +HP:0003826 Fetal death NOT_TRANSLATED +HP:0003826 Fetal demise NOT_TRANSLATED +HP:0003826 Foetal death NOT_TRANSLATED +HP:0003826 Late fetal death NOT_TRANSLATED +HP:0003826 Stillborn NOT_TRANSLATED +HP:0003828 Highly variable severity NOT_TRANSLATED +HP:0003828 Variable severity NOT_TRANSLATED +HP:0003829 Incomplete penetrance NOT_TRANSLATED +HP:0003829 Reduced penetrance NOT_TRANSLATED +HP:0003831 Age dependent penetrance NOT_TRANSLATED +HP:0003831 Age-dependent penetrance NOT_TRANSLATED +HP:0003831 Typified by age-related penetrance NOT_TRANSLATED +HP:0003835 Partial shoulder dislocation NOT_TRANSLATED +HP:0003837 Calcification of the soft-tissue around the shoulders NOT_TRANSLATED +HP:0003839 Abnormal shape of end part of upper limb long bones NOT_TRANSLATED +HP:0003839 Abnormality involving the epiphyses of the upper limbs NOT_TRANSLATED +HP:0003839 Epihyseal plate abnormality of the upper limbs NOT_TRANSLATED +HP:0003840 Delayed maturation fo the end part of the upper limb bone NOT_TRANSLATED +HP:0003841 Fragmented end part of upper limb bones NOT_TRANSLATED +HP:0003842 Irregular end part of upper limb bones NOT_TRANSLATED +HP:0003843 Round end part of upper limb bones NOT_TRANSLATED +HP:0003844 Small end part of upper limb bones NOT_TRANSLATED +HP:0003846 Broad epiphyseal plates of the upper limbs NOT_TRANSLATED +HP:0003846 Broad growth plates of upper limbs NOT_TRANSLATED +HP:0003848 Cupped wide portion of the upper limb bone NOT_TRANSLATED +HP:0003849 Flared metaphyses of the upper limbs NOT_TRANSLATED +HP:0003849 Flared wide portion of the upper limb bone NOT_TRANSLATED +HP:0003850 Irregular metaphyses of the upper limbs NOT_TRANSLATED +HP:0003850 Irregular wide portion of upper limb bones NOT_TRANSLATED +HP:0003854 Increased bone density in wide portion of the upper limb bones NOT_TRANSLATED +HP:0003855 Spurred wide portion of upper limb bone NOT_TRANSLATED +HP:0003856 Broad wide portion of upper limb bone NOT_TRANSLATED +HP:0003856 Wide/broad metaphyses of the upper limbs NOT_TRANSLATED +HP:0003860 Increased bone density in central part of long bone of upper limbs NOT_TRANSLATED +HP:0003861 Broad shaft of long bone of the upper limbs NOT_TRANSLATED +HP:0003861 Wide diaphyses of the upper limbs NOT_TRANSLATED +HP:0003861 Wide shaft of long bone of the upper limbs NOT_TRANSLATED +HP:0003862 Absent long bone in upper arm NOT_TRANSLATED +HP:0003862 Aplasia of the humerus NOT_TRANSLATED +HP:0003862 Aplastic humerus NOT_TRANSLATED +HP:0003863 Angulated long bone in upper arm NOT_TRANSLATED +HP:0003864 Notched long bone in upper arm NOT_TRANSLATED +HP:0003865 Bowed long bone in upper arm NOT_TRANSLATED +HP:0003865 Bowing of the humerus NOT_TRANSLATED +HP:0003865 Humeral bowing NOT_TRANSLATED +HP:0003870 Crumpled long bone in upper arm NOT_TRANSLATED +HP:0003871 Deformed long bone in upper arm NOT_TRANSLATED +HP:0003875 Lytic defects of the humerus NOT_TRANSLATED +HP:0003877 Humeral oval transradiancy NOT_TRANSLATED +HP:0003879 False joint (long bone in upper arm) NOT_TRANSLATED +HP:0003880 Humeral sclerotic foci NOT_TRANSLATED +HP:0003881 Increased bone density in long bone of upper arm NOT_TRANSLATED +HP:0003881 Sclerosis of humerus NOT_TRANSLATED +HP:0003882 Slender long bone of upper arm NOT_TRANSLATED +HP:0003883 Tapered long bone of upper arm NOT_TRANSLATED +HP:0003884 Triangular long bone of upper arm NOT_TRANSLATED +HP:0003886 Broad humerus NOT_TRANSLATED +HP:0003886 Wide long bone of upper arm NOT_TRANSLATED +HP:0003887 Abnormal head of long bone in upper arm NOT_TRANSLATED +HP:0003887 Abnormality of the humeral heads NOT_TRANSLATED +HP:0003888 Flattended head of long bone in upper arm NOT_TRANSLATED +HP:0003889 Abnormality of the deltoid tuberosities NOT_TRANSLATED +HP:0003891 Abnormality of end part of the long bone of the upper arm NOT_TRANSLATED +HP:0003891 Abnormality of the humeral epiphyses NOT_TRANSLATED +HP:0003892 Absent maturation of end part of long bone in upper arm NOT_TRANSLATED +HP:0003892 Absent ossification of the humeral epiphyses NOT_TRANSLATED +HP:0003893 Accelerated maturation of end part of long bone in upper arm NOT_TRANSLATED +HP:0003893 Advanced maturation of the humeral epiphyses NOT_TRANSLATED +HP:0003894 Delayed maturation of the end part of the long bone in upper arm NOT_TRANSLATED +HP:0003894 Delayed maturation/delayed ossification of the humeral epiphyses NOT_TRANSLATED +HP:0003895 Flattened end part of long bone in upper arm NOT_TRANSLATED +HP:0003896 Irregular end part of long bone in upper arm NOT_TRANSLATED +HP:0003897 Irregular maturation of the end part of the long bone in upper arm NOT_TRANSLATED +HP:0003898 Large end part of long bone in upper arm NOT_TRANSLATED +HP:0003899 Round end part of long bone in upper arm NOT_TRANSLATED +HP:0003900 Small end part of long bone in upper arm NOT_TRANSLATED +HP:0003902 Stippled ossification of the humeral epiphyses NOT_TRANSLATED +HP:0003903 Wide end part of long bone in upper arm NOT_TRANSLATED +HP:0003903 Wide humeral epiphyses NOT_TRANSLATED +HP:0003904 Broad epiphyses of the upper limbs NOT_TRANSLATED +HP:0003904 Wide end part of upper limb bones NOT_TRANSLATED +HP:0003905 Abnormality of arm long bone growth plate NOT_TRANSLATED +HP:0003906 Wide humeral epiphyseal plate NOT_TRANSLATED +HP:0003906 Wide long bone of arm growth plate NOT_TRANSLATED +HP:0003907 Abnormality of the humeral metaphyses NOT_TRANSLATED +HP:0003907 Abnormality of the wide portion of the long bone in upper arm NOT_TRANSLATED +HP:0003908 Bucket handle fracture NOT_TRANSLATED +HP:0003908 Metaphyseal corner fracture NOT_TRANSLATED +HP:0003910 Enlarged wide portion of long bone of upper arm NOT_TRANSLATED +HP:0003910 Expanded humeral metaphyses NOT_TRANSLATED +HP:0003911 Flared humerus NOT_TRANSLATED +HP:0003911 Flared wide portion of long bone of upper arm NOT_TRANSLATED +HP:0003911 Wide/broad humeral metaphysis NOT_TRANSLATED +HP:0003913 Irregular humeral metaphyses NOT_TRANSLATED +HP:0003913 Irregular wide portion of long bone in upper arm NOT_TRANSLATED +HP:0003914 Irregular bone maturation of the wide portion of the long bone in upper arm NOT_TRANSLATED +HP:0003917 Pointed wide portion of long bone of upper arm NOT_TRANSLATED +HP:0003918 Hardening of wide portion of long bone of upper arm NOT_TRANSLATED +HP:0003918 Stiffening of wide portion of long bone of upper arm NOT_TRANSLATED +HP:0003920 Sloping metaphysis of long bone of upper arm NOT_TRANSLATED +HP:0003921 Laterally sloping metaphysis of long bone of upper arm NOT_TRANSLATED +HP:0003922 Spurred metaphysis of long bone of upper arm NOT_TRANSLATED +HP:0003923 Square metaphysis of long bone of upper arm NOT_TRANSLATED +HP:0003924 Speckled calcification in metaphysis of long bone of upper arm NOT_TRANSLATED +HP:0003926 Abnormality of shaft of long bone in upper arm NOT_TRANSLATED +HP:0003926 Abnormality of the humeral diaphysis NOT_TRANSLATED +HP:0003930 Humeral diaphyseal lysis NOT_TRANSLATED +HP:0003933 Increased bone density in shaft of long bone in upper arm NOT_TRANSLATED +HP:0003934 Slender shaft of long bone in upper arm NOT_TRANSLATED +HP:0003935 Broad humeral diaphysis NOT_TRANSLATED +HP:0003935 Broad shaft of long bone in upper arm NOT_TRANSLATED +HP:0003935 Wide shaft of long bone in upper arm NOT_TRANSLATED +HP:0003938 Bone fusion involving the elbow NOT_TRANSLATED +HP:0003939 Humeral ulnar synostosis NOT_TRANSLATED +HP:0003946 Abnormality of end part of the elbow bone NOT_TRANSLATED +HP:0003947 Delayed maturation of the end part of the elbow bone NOT_TRANSLATED +HP:0003948 Irregular end part of the elbow bone NOT_TRANSLATED +HP:0003949 Abnormal wide portion of elbow bone NOT_TRANSLATED +HP:0003950 Flared wide portion of elbow bone NOT_TRANSLATED +HP:0003951 Irregular metaphyses of elbow NOT_TRANSLATED +HP:0003951 Irregular wide portion of elbow bone NOT_TRANSLATED +HP:0003952 Vertical linear mixed lucent and sclerotic pattern of metaphyses NOT_TRANSLATED +HP:0003953 Aplasia of the forearm bones NOT_TRANSLATED +HP:0003961 Broken forearm NOT_TRANSLATED +HP:0003961 Fracture of the forearm NOT_TRANSLATED +HP:0003967 Increased bone density of forearm bones NOT_TRANSLATED +HP:0003971 Wide forearm bones NOT_TRANSLATED +HP:0003973 Broad radioulnar joints NOT_TRANSLATED +HP:0003974 Absent ossification/absence of radius NOT_TRANSLATED +HP:0003974 Aplasia of the radius NOT_TRANSLATED +HP:0003974 Missing outer large bone of forearm NOT_TRANSLATED +HP:0003974 Radial aplasia NOT_TRANSLATED +HP:0003974 absence of radius and ulna NOT_TRANSLATED +HP:0003981 Wide radius NOT_TRANSLATED +HP:0003982 Absent ossification/absent ulna NOT_TRANSLATED +HP:0003982 Absent ulna NOT_TRANSLATED +HP:0003982 Absent ulnae NOT_TRANSLATED +HP:0003988 Disproportionately long ulnae NOT_TRANSLATED +HP:0003991 Sclerotic ulna NOT_TRANSLATED +HP:0003993 Wide ulna NOT_TRANSLATED +HP:0003994 Dislocations of the wrists NOT_TRANSLATED +HP:0003995 Deformity of radial heads NOT_TRANSLATED +HP:0003997 Small radial head NOT_TRANSLATED +HP:0003999 Abnormality of radial epiphyseal plates NOT_TRANSLATED +HP:0004000 Chevron-shaped distal radial epiphysis NOT_TRANSLATED +HP:0004014 Wide radial epiphyseal plates NOT_TRANSLATED +HP:0004015 Abnormality of radial metaphyses NOT_TRANSLATED +HP:0004018 Broadening of the distal radius NOT_TRANSLATED +HP:0004019 Irregular radial metaphysis NOT_TRANSLATED +HP:0004026 Wide radial metaphysis NOT_TRANSLATED +HP:0004031 Wide radial diaphysis NOT_TRANSLATED +HP:0004032 Abnormality of the olecranon NOT_TRANSLATED +HP:0004035 Abnormality of the styloid process of ulna NOT_TRANSLATED +HP:0004037 Abnormality of the epiphyseal plate of the ulna NOT_TRANSLATED +HP:0004037 Abnormality of the ulnar epiphyses NOT_TRANSLATED +HP:0004039 Abnormality of ulnar metaphysis NOT_TRANSLATED +HP:0004042 Irregular ulnar metaphysis NOT_TRANSLATED +HP:0004047 Broad ulnar metaphysis NOT_TRANSLATED +HP:0004050 Acheiria NOT_TRANSLATED +HP:0004051 Accelerated maturation of hand bones NOT_TRANSLATED +HP:0004051 Advanced maturation of the hand bones NOT_TRANSLATED +HP:0004052 Delay maturation/delayed ossification of the hand NOT_TRANSLATED +HP:0004052 Delayed maturation of the hand bones NOT_TRANSLATED +HP:0004053 Disharmonic maturation of the hand bones NOT_TRANSLATED +HP:0004053 Dysharmonic ossification of the hand bones NOT_TRANSLATED +HP:0004054 Generalised sclerosis of hand bones NOT_TRANSLATED +HP:0004054 Generalized sclerosis of hand bones NOT_TRANSLATED +HP:0004054 Hand bone sclerosis NOT_TRANSLATED +HP:0004054 Increased bone density in hand bone NOT_TRANSLATED +HP:0004054 Increased bone density in hand bones NOT_TRANSLATED +HP:0004057 Pseudosyndactyly NOT_TRANSLATED +HP:0004060 trident abnormality NOT_TRANSLATED +HP:0004060 trident deformity NOT_TRANSLATED +HP:0004097 Atypical position of finger NOT_TRANSLATED +HP:0004097 Deviated fingers NOT_TRANSLATED +HP:0004097 Finger pointing in a different direction than usual NOT_TRANSLATED +HP:0004099 Finger overgrowth NOT_TRANSLATED +HP:0004099 Megalodactyly NOT_TRANSLATED +HP:0004100 Abnormality of index finger NOT_TRANSLATED +HP:0004100 Abnormality of the 2nd finger NOT_TRANSLATED +HP:0004112 Central nasal groove NOT_TRANSLATED +HP:0004122 Central cleft of nose NOT_TRANSLATED +HP:0004122 Central defect of nose NOT_TRANSLATED +HP:0004122 Central nasal defect NOT_TRANSLATED +HP:0004122 Midline cleft of nose NOT_TRANSLATED +HP:0004122 Midline nasal defect NOT_TRANSLATED +HP:0004132 Dimpled tip of nose NOT_TRANSLATED +HP:0004150 Abnormality of the 3rd finger NOT_TRANSLATED +HP:0004150 Abnormality of the middle finger NOT_TRANSLATED +HP:0004172 Abnormal middle finger bone of the middle finger NOT_TRANSLATED +HP:0004180 Hypoplastic/small distal phalanx of the 3rd finger NOT_TRANSLATED +HP:0004180 Short distal phalanx of the third finger NOT_TRANSLATED +HP:0004180 Short outermost bone of the middle finger NOT_TRANSLATED +HP:0004180 Short terminal phalanx of middle finger NOT_TRANSLATED +HP:0004188 Abnormality of the 4th finger NOT_TRANSLATED +HP:0004188 Abnormality of the ring finger NOT_TRANSLATED +HP:0004195 Lytic defects of the phalanges of the ring finger NOT_TRANSLATED +HP:0004197 Fused ring finger bones NOT_TRANSLATED +HP:0004197 Symphalangism of the ring finger NOT_TRANSLATED +HP:0004207 Abnormality of the 5th finger NOT_TRANSLATED +HP:0004207 Abnormality of the little finger NOT_TRANSLATED +HP:0004207 Abnormality of the pinkie finger NOT_TRANSLATED +HP:0004207 Abnormality of the pinky finger NOT_TRANSLATED +HP:0004209 Bilateral fifth digit clinodactyly NOT_TRANSLATED +HP:0004209 Bilateral fifth finger clinodactyly NOT_TRANSLATED +HP:0004209 Clinodactyly of fifth digit NOT_TRANSLATED +HP:0004209 Clinodactyly of the little finger NOT_TRANSLATED +HP:0004209 Curvature of little finger NOT_TRANSLATED +HP:0004209 Curvature of pinkie finger NOT_TRANSLATED +HP:0004209 Curvature of pinky finger NOT_TRANSLATED +HP:0004209 Fifth finger clinodactyly NOT_TRANSLATED +HP:0004209 Permanent curving of the pinkie finger NOT_TRANSLATED +HP:0004213 Abnormality of the little finger bone NOT_TRANSLATED +HP:0004213 Abnormality of the phalanges of the 5th finger NOT_TRANSLATED +HP:0004213 Abnormality of the pinkie finger bone NOT_TRANSLATED +HP:0004213 Abnormality of the pinky finger bone NOT_TRANSLATED +HP:0004214 Curved little finger bone NOT_TRANSLATED +HP:0004214 Curved pinkie finger bone NOT_TRANSLATED +HP:0004214 Curved pinky finger bone NOT_TRANSLATED +HP:0004216 Lytic defects of the phalanges of the little finger NOT_TRANSLATED +HP:0004218 Fifth finger symphalangism NOT_TRANSLATED +HP:0004218 Fused little finger bones NOT_TRANSLATED +HP:0004218 Fused pinkie finger bones NOT_TRANSLATED +HP:0004218 Fused pinky finger bones NOT_TRANSLATED +HP:0004218 Symphalagism of the little finger NOT_TRANSLATED +HP:0004219 Abnormality of the middle bone of little finger NOT_TRANSLATED +HP:0004219 Abnormality of the middle bone of pinkie finger NOT_TRANSLATED +HP:0004219 Abnormality of the middle bone of pinky finger NOT_TRANSLATED +HP:0004220 5th finger middle phalangeal hypoplasia NOT_TRANSLATED +HP:0004220 Brachymesophalangism V NOT_TRANSLATED +HP:0004220 Brachymesophalangy V (finger) NOT_TRANSLATED +HP:0004220 Fifth finger mid-phalanx hypoplasia NOT_TRANSLATED +HP:0004220 Hypoplastic fifth finger middle phalanx NOT_TRANSLATED +HP:0004220 Hypoplastic middle phalanx of the 5th finger NOT_TRANSLATED +HP:0004220 Hypoplastic/small middle phalanx of the 5th finger NOT_TRANSLATED +HP:0004220 Hypoplastic/small middle phalanx of the little finger NOT_TRANSLATED +HP:0004220 Short middle bone of the little finger NOT_TRANSLATED +HP:0004220 Short middle bone of the pinkie finger NOT_TRANSLATED +HP:0004220 Short middle bone of the pinky finger NOT_TRANSLATED +HP:0004220 Short middle phalanx of the little finger NOT_TRANSLATED +HP:0004220 Type A3 brachydactyly NOT_TRANSLATED +HP:0004222 Cone-shaped end part of the outermost little finger bone NOT_TRANSLATED +HP:0004222 Cone-shaped end part of the outermost pinkie finger bone NOT_TRANSLATED +HP:0004222 Cone-shaped end part of the outermost pinky finger bone NOT_TRANSLATED +HP:0004222 Cone-shaped epiphysis of the distal phalanx of the little finger NOT_TRANSLATED +HP:0004223 Increased bone density of end part of the outermost little finger bone NOT_TRANSLATED +HP:0004223 Increased bone density of end part of the outermost pinkie finger bone NOT_TRANSLATED +HP:0004223 Increased bone density of end part of the outermost pinky finger bone NOT_TRANSLATED +HP:0004223 Ivory epiphysis of the distal phalanx of the little finger NOT_TRANSLATED +HP:0004223 Ivory epiphysis of the terminal phalanx of the little finger NOT_TRANSLATED +HP:0004224 Abnormality of the end part of middle little finger bone NOT_TRANSLATED +HP:0004224 Abnormality of the end part of middle pinkie finger bone NOT_TRANSLATED +HP:0004224 Abnormality of the end part of middle pinky finger bone NOT_TRANSLATED +HP:0004225 Abnormality of the distal phalanx of the little finger NOT_TRANSLATED +HP:0004225 Abnormality of the outermost little finger bone NOT_TRANSLATED +HP:0004225 Abnormality of the outermost pinkie finger bone NOT_TRANSLATED +HP:0004225 Abnormality of the outermost pinky finger bone NOT_TRANSLATED +HP:0004225 Abnormality of the terminal phalanx of the little finger NOT_TRANSLATED +HP:0004226 Curved outermost little finger bone NOT_TRANSLATED +HP:0004226 Curved outermost pinkie finger bone NOT_TRANSLATED +HP:0004226 Curved outermost pinky finger bone NOT_TRANSLATED +HP:0004226 Curved terminal phalanx of the little finger NOT_TRANSLATED +HP:0004227 Brachytelophalangism V NOT_TRANSLATED +HP:0004227 Fifth digit distal phalangeal hypoplasia NOT_TRANSLATED +HP:0004227 Hypoplastic/small terminal phalanx of the little finger NOT_TRANSLATED +HP:0004227 Short distal phalanx of the fifth finger NOT_TRANSLATED +HP:0004227 Short outermost little finger bone NOT_TRANSLATED +HP:0004227 Short outermost pinkie finger bone NOT_TRANSLATED +HP:0004227 Short outermost pinky finger bone NOT_TRANSLATED +HP:0004230 Partially dislocated innermost hinge joint of little finger NOT_TRANSLATED +HP:0004230 Partially dislocated innermost hinge joint of pinkie finger NOT_TRANSLATED +HP:0004230 Partially dislocated innermost hinge joint of pinky finger NOT_TRANSLATED +HP:0004231 Absent carpal bone NOT_TRANSLATED +HP:0004231 Absent carpal bones NOT_TRANSLATED +HP:0004231 Absent carpal ossification center NOT_TRANSLATED +HP:0004231 Absent carpal ossification centre NOT_TRANSLATED +HP:0004231 Absent wrist bone NOT_TRANSLATED +HP:0004231 Aplastic carpal bone NOT_TRANSLATED +HP:0004231 Missing wrist bone NOT_TRANSLATED +HP:0004232 Extra wrist bones NOT_TRANSLATED +HP:0004232 Supernumerary carpal bones NOT_TRANSLATED +HP:0004233 Accelerated carpal bone maturation NOT_TRANSLATED +HP:0004233 Accelerated wrist bone maturation NOT_TRANSLATED +HP:0004233 Advanced carpal bone age NOT_TRANSLATED +HP:0004233 Advanced carpal ossification NOT_TRANSLATED +HP:0004233 Precociously ossified carpal bones NOT_TRANSLATED +HP:0004234 Bone-in-a-bone appearance of wrist bones NOT_TRANSLATED +HP:0004235 Comma-shaped wrist bones NOT_TRANSLATED +HP:0004236 Irregular wrist bones NOT_TRANSLATED +HP:0004237 Large carpals NOT_TRANSLATED +HP:0004237 Large wrist bones NOT_TRANSLATED +HP:0004240 Hardened spots within wrist bones NOT_TRANSLATED +HP:0004240 Stiffened spots within wrist bones NOT_TRANSLATED +HP:0004241 Punctate calcifications of carpals NOT_TRANSLATED +HP:0004242 Wide carpal bones NOT_TRANSLATED +HP:0004242 Wide wrist bones NOT_TRANSLATED +HP:0004246 Delayed maturation of the scaphoid NOT_TRANSLATED +HP:0004251 Lunotriquetral synostosis NOT_TRANSLATED +HP:0004253 Absent trapezium bone NOT_TRANSLATED +HP:0004254 Delayed maturation of the trapezium NOT_TRANSLATED +HP:0004257 Delayed maturation of the trapezoid bone NOT_TRANSLATED +HP:0004260 Large unciform bone NOT_TRANSLATED +HP:0004261 Broad hamate bone NOT_TRANSLATED +HP:0004261 Wide unciform bone NOT_TRANSLATED +HP:0004264 Decreased carpal joint angles NOT_TRANSLATED +HP:0004269 Partial dislocation of small joints of hand NOT_TRANSLATED +HP:0004273 Cupped metaphysis of hand bones NOT_TRANSLATED +HP:0004273 Cupped wide portion of hand bones NOT_TRANSLATED +HP:0004274 Deficient maturation of hand bones NOT_TRANSLATED +HP:0004277 Broken hand bones NOT_TRANSLATED +HP:0004278 Fused hand bones NOT_TRANSLATED +HP:0004279 Hypoplastic hands NOT_TRANSLATED +HP:0004279 Short hands NOT_TRANSLATED +HP:0004279 Short palms NOT_TRANSLATED +HP:0004280 Irregular maturation of hand bones NOT_TRANSLATED +HP:0004283 Narrow hand NOT_TRANSLATED +HP:0004283 Narrow hands NOT_TRANSLATED +HP:0004286 Uneven increase in bone density in hand bones NOT_TRANSLATED +HP:0004293 Fusion of second metacarpal-trapezoid NOT_TRANSLATED +HP:0004294 Partial knuckle dislocation NOT_TRANSLATED +HP:0004294 Subluxation of metacarpophalangeal joints NOT_TRANSLATED +HP:0004295 Abnormality of the gastric mucosa NOT_TRANSLATED +HP:0004295 Abnormality of the mucous membrane layer of stomach NOT_TRANSLATED +HP:0004296 Abnormality of GI blood vessels NOT_TRANSLATED +HP:0004296 Abnormality of GI vasculature NOT_TRANSLATED +HP:0004296 Abnormality of gastrointestinal vasculature NOT_TRANSLATED +HP:0004298 Abnormality of external features of the abdomen NOT_TRANSLATED +HP:0004299 Herniated abdominal wall NOT_TRANSLATED +HP:0004302 Functional motor problems NOT_TRANSLATED +HP:0004303 Abnormal muscle fibre morphology NOT_TRANSLATED +HP:0004303 Abnormal skeletal muscle fiber morphology NOT_TRANSLATED +HP:0004303 Abnormal skeletal muscle fibre morphology NOT_TRANSLATED +HP:0004303 Abnormality of muscle fibers NOT_TRANSLATED +HP:0004303 Abnormality of muscle fibres NOT_TRANSLATED +HP:0004305 Involuntary muscle contractions NOT_TRANSLATED +HP:0004306 Abnormality of the endocardium NOT_TRANSLATED +HP:0004306 Abnormality of the endomycoardium NOT_TRANSLATED +HP:0004308 Ventricular arrhythmias NOT_TRANSLATED +HP:0004309 Pre-excitation syndrome NOT_TRANSLATED +HP:0004309 Preexcitation NOT_TRANSLATED +HP:0004309 Ventricular pre-excitation NOT_TRANSLATED +HP:0004311 Abnormality of histiocytes NOT_TRANSLATED +HP:0004311 Abnormality of macrophages NOT_TRANSLATED +HP:0004312 Abnormality of reticulocytes NOT_TRANSLATED +HP:0004313 Decreased antibody level in blood NOT_TRANSLATED +HP:0004313 Decreased immunoglobulin level NOT_TRANSLATED +HP:0004313 Decreased serum immunoglobulin NOT_TRANSLATED +HP:0004313 Hypogammaglobulinemia NOT_TRANSLATED +HP:0004313 Immunoglobulin deficiency NOT_TRANSLATED +HP:0004313 Reduced immunoglobulin levels NOT_TRANSLATED +HP:0004315 Decreased IgG level NOT_TRANSLATED +HP:0004315 Decreased IgG level in blood NOT_TRANSLATED +HP:0004315 Decreased gamma-globin expression NOT_TRANSLATED +HP:0004315 Decreased immunoglobulin G NOT_TRANSLATED +HP:0004315 Decreased serum IgG NOT_TRANSLATED +HP:0004315 IgG deficiency NOT_TRANSLATED +HP:0004315 Reduced IgG levels NOT_TRANSLATED +HP:0004319 Decreased aldosterone NOT_TRANSLATED +HP:0004319 Decreased aldosterone production NOT_TRANSLATED +HP:0004319 Decreased serum aldosterone NOT_TRANSLATED +HP:0004319 Hypoaldosteronism NOT_TRANSLATED +HP:0004319 Low blood aldosterone level NOT_TRANSLATED +HP:0004319 Mineralocorticoid insufficiency NOT_TRANSLATED +HP:0004322 Decreased body height NOT_TRANSLATED +HP:0004322 Height less than 3rd percentile NOT_TRANSLATED +HP:0004322 Small stature NOT_TRANSLATED +HP:0004322 Stature below 3rd percentile NOT_TRANSLATED +HP:0004323 Abnormality of habitus NOT_TRANSLATED +HP:0004324 Weight gain NOT_TRANSLATED +HP:0004325 Decreased weight NOT_TRANSLATED +HP:0004325 Low body weight NOT_TRANSLATED +HP:0004325 Low weight NOT_TRANSLATED +HP:0004325 Weight less than 3rd percentile NOT_TRANSLATED +HP:0004326 Wasting syndrome NOT_TRANSLATED +HP:0004327 Abnormal vitreous humour morphology NOT_TRANSLATED +HP:0004328 Abnormal anterior segment morphology NOT_TRANSLATED +HP:0004328 Abnormality of the anterior segment of the eye NOT_TRANSLATED +HP:0004328 Abnormality of the anterior segment of the eyeball NOT_TRANSLATED +HP:0004328 Abnormality of the anterior segment of the globe NOT_TRANSLATED +HP:0004329 Abnormal morphology of the posterior segment of the globe NOT_TRANSLATED +HP:0004329 Abnormality of the posterior segment of the eye NOT_TRANSLATED +HP:0004329 Abnormality of the posterior segment of the eyeball NOT_TRANSLATED +HP:0004329 Abnormality of the posterior segment of the globe NOT_TRANSLATED +HP:0004330 Hyperossification of skull NOT_TRANSLATED +HP:0004330 Hyperostosis of skull NOT_TRANSLATED +HP:0004330 Increased Mineralization of skull NOT_TRANSLATED +HP:0004330 Increased calcification of skull NOT_TRANSLATED +HP:0004330 Sclerosis of bones of skull NOT_TRANSLATED +HP:0004330 Sclerosis of skull NOT_TRANSLATED +HP:0004331 Decreased bone formation of skull NOT_TRANSLATED +HP:0004331 Decreased calcification of skull NOT_TRANSLATED +HP:0004331 Decreased mineralization of skull NOT_TRANSLATED +HP:0004331 Deficient skull ossification NOT_TRANSLATED +HP:0004331 Hypoossification of skull NOT_TRANSLATED +HP:0004331 Ossification defect of skull NOT_TRANSLATED +HP:0004331 Poorly mineralized skull NOT_TRANSLATED +HP:0004331 Poorly ossified skull NOT_TRANSLATED +HP:0004331 Poorly ossified skull bones NOT_TRANSLATED +HP:0004332 Abnormal lymphocytes NOT_TRANSLATED +HP:0004332 Abnormality of cells of the lymphoid lineage NOT_TRANSLATED +HP:0004333 Bone marrow foam cells NOT_TRANSLATED +HP:0004333 Large vacuolated foam cells ('NP cells') on bone marrow biopsy NOT_TRANSLATED +HP:0004333 Large vacuolated foam cells on bone marrow biopsy NOT_TRANSLATED +HP:0004334 Atrophic skin NOT_TRANSLATED +HP:0004334 Skin atrophy NOT_TRANSLATED +HP:0004334 Skin degeneration NOT_TRANSLATED +HP:0004336 Excessive focal folding of myelin sheaths NOT_TRANSLATED +HP:0004336 Irregular myelin foldings NOT_TRANSLATED +HP:0004337 Amino acid levels abnormal NOT_TRANSLATED +HP:0004338 Abnormality of aromatic amino acid family metabolism NOT_TRANSLATED +HP:0004339 Abnormal circulating sulphur amino acid concentration NOT_TRANSLATED +HP:0004339 Abnormality of sulfur-containing amino acids NOT_TRANSLATED +HP:0004340 Abnormality of B-vitamin metabolism NOT_TRANSLATED +HP:0004341 Abnormality of the vitamin B12 metabolism NOT_TRANSLATED +HP:0004343 Abnormality of glycosphingolipid metabolism NOT_TRANSLATED +HP:0004348 Abnormality of bone mineralisation and ossification NOT_TRANSLATED +HP:0004349 Decreased bone mineral density NOT_TRANSLATED +HP:0004349 Decreased bone mineral density Z score NOT_TRANSLATED +HP:0004349 Low solidness and mass of the bones NOT_TRANSLATED +HP:0004352 Abnormal circulating purine level NOT_TRANSLATED +HP:0004359 Abnormality of fatty acid metabolism NOT_TRANSLATED +HP:0004359 Fatty acids abnormal NOT_TRANSLATED +HP:0004360 Acid base imbalance NOT_TRANSLATED +HP:0004361 Abnormality of circulating leptin level NOT_TRANSLATED +HP:0004362 Abnormality of the enteric ganglia NOT_TRANSLATED +HP:0004363 Abnormal blood calcium concentration NOT_TRANSLATED +HP:0004363 Abnormal blood calcium levels NOT_TRANSLATED +HP:0004363 Abnormal circulating Ca concentration NOT_TRANSLATED +HP:0004363 Abnormal circulating Ca2+ concentration NOT_TRANSLATED +HP:0004365 Abnormality of tryptophan metabolism NOT_TRANSLATED +HP:0004368 Increased purine level NOT_TRANSLATED +HP:0004368 Increased purine levels NOT_TRANSLATED +HP:0004369 Decreased purine level NOT_TRANSLATED +HP:0004369 Decreased purine levels NOT_TRANSLATED +HP:0004370 Body temperature changes NOT_TRANSLATED +HP:0004370 Poor temperature regulation NOT_TRANSLATED +HP:0004372 Disturbances of consciousness NOT_TRANSLATED +HP:0004372 Lowered consciousness NOT_TRANSLATED +HP:0004374 Paralysis or weakness of one side of body NOT_TRANSLATED +HP:0004375 Neoplasia of the nervous system NOT_TRANSLATED +HP:0004375 Nervous system cancer NOT_TRANSLATED +HP:0004375 Tumor of the nervous system NOT_TRANSLATED +HP:0004375 Tumour of the nervous system NOT_TRANSLATED +HP:0004376 Neuroblastic tumour NOT_TRANSLATED +HP:0004377 Blood tumor NOT_TRANSLATED +HP:0004377 Blood tumour NOT_TRANSLATED +HP:0004377 Haematological neoplasm NOT_TRANSLATED +HP:0004379 Abnormality of ALP level NOT_TRANSLATED +HP:0004379 Abnormality of alkaline phosphatase activity NOT_TRANSLATED +HP:0004379 Alkaline phosphatase abnormal NOT_TRANSLATED +HP:0004383 Heart left ventricle hypoplasia NOT_TRANSLATED +HP:0004383 Left ventricular hypoplasia NOT_TRANSLATED +HP:0004383 Underdeveloped left heart NOT_TRANSLATED +HP:0004384 Persistent truncus arteriosus type I NOT_TRANSLATED +HP:0004384 Type 1 truncus arteriosus NOT_TRANSLATED +HP:0004385 Protracted diarrhoea NOT_TRANSLATED +HP:0004386 GI inflammation NOT_TRANSLATED +HP:0004388 Microcolon on contrast enema NOT_TRANSLATED +HP:0004389 Intestinal pseudoobstruction NOT_TRANSLATED +HP:0004390 Gastrointestinal hamartoma NOT_TRANSLATED +HP:0004390 Gastrointestinal hamartomatous polyps NOT_TRANSLATED +HP:0004390 Hamartomatous polyps NOT_TRANSLATED +HP:0004396 Decreased appetite NOT_TRANSLATED +HP:0004396 Loss of appetite NOT_TRANSLATED +HP:0004396 No appetite NOT_TRANSLATED +HP:0004397 Abnormal anus position NOT_TRANSLATED +HP:0004397 Anus malposition NOT_TRANSLATED +HP:0004398 Sore in the lining of gastrointestinal tract NOT_TRANSLATED +HP:0004401 Distal intestinal obstruction syndrome NOT_TRANSLATED +HP:0004401 Meconium ileus in neonates NOT_TRANSLATED +HP:0004401 Meconium ileus on ultrasonography NOT_TRANSLATED +HP:0004404 Abnormality of the nipple NOT_TRANSLATED +HP:0004406 Recurrent epistaxes NOT_TRANSLATED +HP:0004406 Recurrent epistaxis NOT_TRANSLATED +HP:0004406 Recurring nosebleed NOT_TRANSLATED +HP:0004406 Spontaneous, recurrent nosebleed NOT_TRANSLATED +HP:0004408 Abnormal sense of smell NOT_TRANSLATED +HP:0004408 Abnormality of olfaction NOT_TRANSLATED +HP:0004408 Smell defect NOT_TRANSLATED +HP:0004409 Decreased smell sensation NOT_TRANSLATED +HP:0004409 Sense of smell impaired NOT_TRANSLATED +HP:0004411 Crooked nasal septum NOT_TRANSLATED +HP:0004411 Crooked septum of nose NOT_TRANSLATED +HP:0004411 Deviated septum of nose NOT_TRANSLATED +HP:0004414 Abnormality of lung artery NOT_TRANSLATED +HP:0004415 Narrowing of lung artery NOT_TRANSLATED +HP:0004416 Premature atherosclerosis NOT_TRANSLATED +HP:0004416 Premature plaque build-up in arteries NOT_TRANSLATED +HP:0004419 Recurrent phlebitis NOT_TRANSLATED +HP:0004419 Recurrent thrombosis NOT_TRANSLATED +HP:0004420 Blood clot in artery NOT_TRANSLATED +HP:0004421 Elevated systolic BP NOT_TRANSLATED +HP:0004422 Decreased width of the skull NOT_TRANSLATED +HP:0004425 Flattened forehead NOT_TRANSLATED +HP:0004425 Frontal flattening NOT_TRANSLATED +HP:0004426 Abnormality of the cheek NOT_TRANSLATED +HP:0004426 Abnormality of the cheeks NOT_TRANSLATED +HP:0004426 Anomaly of the cheeks NOT_TRANSLATED +HP:0004426 Deformity of the cheeks NOT_TRANSLATED +HP:0004426 Malformation of the cheeks NOT_TRANSLATED +HP:0004428 Elf-like facial appearance NOT_TRANSLATED +HP:0004428 Elf-like facial features NOT_TRANSLATED +HP:0004428 Leprechaun facies NOT_TRANSLATED +HP:0004430 Immunodeficiency, severe combined NOT_TRANSLATED +HP:0004432 Agammaglobulinaemia NOT_TRANSLATED +HP:0004434 C8 deficiency NOT_TRANSLATED +HP:0004437 Enlargement of skull bones NOT_TRANSLATED +HP:0004437 Excessive growth of skull bones NOT_TRANSLATED +HP:0004437 Hyperostosis of cranial bones NOT_TRANSLATED +HP:0004437 Hyperostosis of cranial vault NOT_TRANSLATED +HP:0004437 Hypertrophy of cranial bones NOT_TRANSLATED +HP:0004437 Increased ossification of cranial bones NOT_TRANSLATED +HP:0004437 Overgrowth of skull bones NOT_TRANSLATED +HP:0004437 Thick skull bones NOT_TRANSLATED +HP:0004438 Enlargement of the inner surface of the frontal bone NOT_TRANSLATED +HP:0004438 Excessive growth of inner surface of the frontal bone NOT_TRANSLATED +HP:0004438 Hyperostosis of the internal surface of the frontal bone NOT_TRANSLATED +HP:0004438 Hypertrophy of the internal surface of the frontal bone NOT_TRANSLATED +HP:0004438 Increased ossification of the internal surface of the frontal bone NOT_TRANSLATED +HP:0004438 Overgrowth of the inner surface of the frontal bone NOT_TRANSLATED +HP:0004438 Overgrowth of the inside of the frontal bone NOT_TRANSLATED +HP:0004438 Thick inner surface of the frontal bone NOT_TRANSLATED +HP:0004438 Thick internal surface of the frontal bone NOT_TRANSLATED +HP:0004439 Crouzon syndrome NOT_TRANSLATED +HP:0004440 Coronal suture craniosynostosis NOT_TRANSLATED +HP:0004440 Coronal suture synostosis NOT_TRANSLATED +HP:0004440 Craniosynostosis of coronal suture NOT_TRANSLATED +HP:0004442 Craniosynostosis, sagittal NOT_TRANSLATED +HP:0004442 Craniosynostosis, sagittal suture NOT_TRANSLATED +HP:0004442 Early closure of midline skull joint NOT_TRANSLATED +HP:0004442 Midline skull joint closes early NOT_TRANSLATED +HP:0004442 Sagittal suture synostosis NOT_TRANSLATED +HP:0004443 Lambdoid suture craniosynostosis NOT_TRANSLATED +HP:0004443 Lambdoid suture synostosis NOT_TRANSLATED +HP:0004445 Elliptocyte NOT_TRANSLATED +HP:0004445 Hereditary elliptocytosis NOT_TRANSLATED +HP:0004445 Ovalocytes NOT_TRANSLATED +HP:0004445 Ovalocytosis NOT_TRANSLATED +HP:0004446 Red cell stomatocytosis NOT_TRANSLATED +HP:0004446 erythrocyte stomatocytes NOT_TRANSLATED +HP:0004450 Preauricular skin furrows NOT_TRANSLATED +HP:0004450 Preauricular skin groove NOT_TRANSLATED +HP:0004450 Preauricular skin sulcus NOT_TRANSLATED +HP:0004450 Skin groove in front of the ear NOT_TRANSLATED +HP:0004450 Skin sulcus in front of the ear NOT_TRANSLATED +HP:0004451 Postauricular acrochordon NOT_TRANSLATED +HP:0004451 Postauricular fibroepithelial polyp NOT_TRANSLATED +HP:0004451 Skin tag behind the ear NOT_TRANSLATED +HP:0004452 Malformed ossicles NOT_TRANSLATED +HP:0004452 Ossicular malformation NOT_TRANSLATED +HP:0004453 Overfolding of superior helix NOT_TRANSLATED +HP:0004458 Bulbous internal auditory canal NOT_TRANSLATED +HP:0004458 Enlarged internal auditory canal NOT_TRANSLATED +HP:0004459 External auditory canal exostoses NOT_TRANSLATED +HP:0004463 No auditory brainstem response NOT_TRANSLATED +HP:0004464 Pit behind the ear NOT_TRANSLATED +HP:0004464 Postauricular earpits NOT_TRANSLATED +HP:0004464 Postauricular fistula NOT_TRANSLATED +HP:0004464 Posterior auricular pit NOT_TRANSLATED +HP:0004464 Posterior auricular sinus NOT_TRANSLATED +HP:0004467 Ear pit NOT_TRANSLATED +HP:0004467 Pit in front of the ear NOT_TRANSLATED +HP:0004467 Preauricular earpits NOT_TRANSLATED +HP:0004467 Preauricular fistulas NOT_TRANSLATED +HP:0004467 Preauricular pits NOT_TRANSLATED +HP:0004467 Preauricular sinus NOT_TRANSLATED +HP:0004468 Abnormal tracheal cartilaginous ring NOT_TRANSLATED +HP:0004471 Absent cutis congenita of vertex NOT_TRANSLATED +HP:0004471 Aplasia cutis congenita of vertex NOT_TRANSLATED +HP:0004472 Excessive growth of mandibular bone NOT_TRANSLATED +HP:0004472 Hyperostosis of lower jaw NOT_TRANSLATED +HP:0004472 Hyperostosis of mandibular bone NOT_TRANSLATED +HP:0004472 Increased ossification of lower jaw NOT_TRANSLATED +HP:0004472 Increased ossification of mandible NOT_TRANSLATED +HP:0004472 Increased ossification of mandibular bone NOT_TRANSLATED +HP:0004472 Overgrowth of mandibular bone NOT_TRANSLATED +HP:0004472 Thick lower jaw bone NOT_TRANSLATED +HP:0004472 Thick mandibular bone NOT_TRANSLATED +HP:0004474 Anterior fontanelle open in adults NOT_TRANSLATED +HP:0004474 Front fontanelle stays open NOT_TRANSLATED +HP:0004474 Persistent, open anterior fontanel NOT_TRANSLATED +HP:0004476 Absent cutis congenita over parietal area NOT_TRANSLATED +HP:0004481 Macrocephaly, progressive NOT_TRANSLATED +HP:0004481 Progressively abnormally enlarging cranium NOT_TRANSLATED +HP:0004481 Progressively abnormally enlarging skull NOT_TRANSLATED +HP:0004482 Disproportionately large head NOT_TRANSLATED +HP:0004482 Macrocephaly, relative NOT_TRANSLATED +HP:0004482 Relatively large head NOT_TRANSLATED +HP:0004484 Abnormality of craniofacial shape NOT_TRANSLATED +HP:0004484 Malformation of craniofacial shape NOT_TRANSLATED +HP:0004484 Uneven craniofacial structures NOT_TRANSLATED +HP:0004485 Cranium stopped growing NOT_TRANSLATED +HP:0004485 Head stopped growing NOT_TRANSLATED +HP:0004485 Skull stopped growing NOT_TRANSLATED +HP:0004488 Big cranium present at birth NOT_TRANSLATED +HP:0004488 Big cranium present since birth NOT_TRANSLATED +HP:0004488 Big head present at birth NOT_TRANSLATED +HP:0004488 Big head present since birth NOT_TRANSLATED +HP:0004488 Big skull present at birth NOT_TRANSLATED +HP:0004488 Big skull present since birth NOT_TRANSLATED +HP:0004488 Congenital large cranium NOT_TRANSLATED +HP:0004488 Congenital large head NOT_TRANSLATED +HP:0004488 Congenital large skull NOT_TRANSLATED +HP:0004488 Congenital macrocephaly NOT_TRANSLATED +HP:0004488 Head circumference large for gestational age NOT_TRANSLATED +HP:0004488 Large cranium present at birth NOT_TRANSLATED +HP:0004488 Large cranium present since birth NOT_TRANSLATED +HP:0004488 Large head present at birth NOT_TRANSLATED +HP:0004488 Large head present since birth NOT_TRANSLATED +HP:0004488 Large skull present at birth NOT_TRANSLATED +HP:0004488 Large skull present since birth NOT_TRANSLATED +HP:0004490 Enlargement of calvarial bones NOT_TRANSLATED +HP:0004490 Excessive growth of calvarial bones NOT_TRANSLATED +HP:0004490 Hyperostosis of calvarial bones NOT_TRANSLATED +HP:0004490 Hypertrophy of calvarial bones NOT_TRANSLATED +HP:0004490 Increased ossification of calvarial bones NOT_TRANSLATED +HP:0004490 Overgrowth of calvarial bones NOT_TRANSLATED +HP:0004490 Overgrowth of skullcap NOT_TRANSLATED +HP:0004490 Thick calvarial bones NOT_TRANSLATED +HP:0004491 Large posterior fontanel NOT_TRANSLATED +HP:0004492 Widely patent fontanels and sutures NOT_TRANSLATED +HP:0004493 Enlargement of craniofacial bones NOT_TRANSLATED +HP:0004493 Excessive bone growth of the skull and face NOT_TRANSLATED +HP:0004493 Excessive growth of craniofacial bones NOT_TRANSLATED +HP:0004493 Hyperostosis of craniofacial bones NOT_TRANSLATED +HP:0004493 Hypertrophy of craniofacial bones NOT_TRANSLATED +HP:0004493 Increased ossification of craniofacial bones NOT_TRANSLATED +HP:0004493 Overgrowth of craniofacial bones NOT_TRANSLATED +HP:0004493 Thick craniofacial bones NOT_TRANSLATED +HP:0004499 Chronic nasal inflammation due to narrow nasal airway NOT_TRANSLATED +HP:0004502 Bilateral blockage of the rear opening of the nasal cavity NOT_TRANSLATED +HP:0004502 Bilateral obstruction of the rear opening of the nasal cavity NOT_TRANSLATED +HP:0004510 Hyperplastic islets of langerhans NOT_TRANSLATED +HP:0004510 Hypertrophic pancreatic islets NOT_TRANSLATED +HP:0004510 Islet of Langerhans hyperplasia NOT_TRANSLATED +HP:0004510 Islets of langerhans hypertrophy NOT_TRANSLATED +HP:0004510 Pancreatic islet-cell hypertrophy NOT_TRANSLATED +HP:0004523 Elongated eyebrow NOT_TRANSLATED +HP:0004523 Increased horizontal length of eyebrow NOT_TRANSLATED +HP:0004523 Increased transverse length of eyebrow NOT_TRANSLATED +HP:0004524 Reduced hair growth in temporal region NOT_TRANSLATED +HP:0004528 Generalised hypotrichosis NOT_TRANSLATED +HP:0004528 Hypotrichosis, generalised NOT_TRANSLATED +HP:0004528 Hypotrichosis, generalized NOT_TRANSLATED +HP:0004535 Congenital cervical hypertrichosis NOT_TRANSLATED +HP:0004535 Hypertrichosis, congenital anterior cervical NOT_TRANSLATED +HP:0004540 Congenital generalised hypertrichosis NOT_TRANSLATED +HP:0004540 Congenital generalized hypertrichosis NOT_TRANSLATED +HP:0004540 Congenital, generalised hypertrichosis NOT_TRANSLATED +HP:0004540 Hypertrichosis universalis NOT_TRANSLATED +HP:0004552 Cicatricial alopecia NOT_TRANSLATED +HP:0004552 Hair loss on scalp from scarring condition NOT_TRANSLATED +HP:0004554 Generalised hypertrichosis NOT_TRANSLATED +HP:0004558 Flattened cervical vertebral bodies NOT_TRANSLATED +HP:0004563 Compact spinal bone NOT_TRANSLATED +HP:0004563 Concrete spinal bone NOT_TRANSLATED +HP:0004563 Dense spinal bone NOT_TRANSLATED +HP:0004563 Eburnation of spinal bone NOT_TRANSLATED +HP:0004563 Increased density of spinal bone NOT_TRANSLATED +HP:0004563 Increased spinal bone density Z-score NOT_TRANSLATED +HP:0004563 Ivory spinal bone NOT_TRANSLATED +HP:0004563 Sclerosis of spinal bone NOT_TRANSLATED +HP:0004565 platyspondyly, extreme NOT_TRANSLATED +HP:0004566 Pear-shaped vertebral bodies NOT_TRANSLATED +HP:0004568 Anterior beaking of vertebrae NOT_TRANSLATED +HP:0004568 Anterior beaking of vertebral bodies NOT_TRANSLATED +HP:0004568 Beaked vertebral bodies NOT_TRANSLATED +HP:0004568 Vertebral tongue-like protrusion NOT_TRANSLATED +HP:0004568 anterior beaking NOT_TRANSLATED +HP:0004570 Tall vertebral bodies NOT_TRANSLATED +HP:0004573 Anterior wedging of the 11th thoracic vertebra NOT_TRANSLATED +HP:0004573 Wedge-shaped 11th thoracic vertebra NOT_TRANSLATED +HP:0004576 Endplate sclerosis NOT_TRANSLATED +HP:0004580 Anterior scalloping vertebral bodies NOT_TRANSLATED +HP:0004586 Biconcave 'codfish' vertebrae NOT_TRANSLATED +HP:0004586 Biconcave vertebrae NOT_TRANSLATED +HP:0004586 Codfish vertebrae NOT_TRANSLATED +HP:0004586 Fish vertebrae NOT_TRANSLATED +HP:0004586 Scalloping of vertebral bodies NOT_TRANSLATED +HP:0004590 Small sacrum NOT_TRANSLATED +HP:0004598 Supernumerary vertebral ossification centres NOT_TRANSLATED +HP:0004602 Fusion of cervical vertebrae c2-3 NOT_TRANSLATED +HP:0004602 Klippel-Feil anomaly NOT_TRANSLATED +HP:0004602 Klippel-Feil syndrome NOT_TRANSLATED +HP:0004610 Lumbar spinal stenosis NOT_TRANSLATED +HP:0004610 Narrow lumbar spinal canal NOT_TRANSLATED +HP:0004611 Anteriorly concave vertebrae NOT_TRANSLATED +HP:0004616 Cleft vertebral arches NOT_TRANSLATED +HP:0004621 Hyperplastic vertebral pedicles NOT_TRANSLATED +HP:0004629 Small cervical vertebrae NOT_TRANSLATED +HP:0004631 Contracture of post-cervical muscles NOT_TRANSLATED +HP:0004631 Inability to touch chin to chest NOT_TRANSLATED +HP:0004632 Cervical spine segmentation defect NOT_TRANSLATED +HP:0004633 Round mid-back NOT_TRANSLATED +HP:0004634 Cuboid vertebral bodies NOT_TRANSLATED +HP:0004637 Limited neck movement NOT_TRANSLATED +HP:0004639 Elevated amniotic fluid alpha fetal protein NOT_TRANSLATED +HP:0004639 Elevated amniotic fluid alpha foetal protein NOT_TRANSLATED +HP:0004639 Elevated amniotic fluid alpha-1-fetoprotein NOT_TRANSLATED +HP:0004639 Elevated amniotic fluid alpha-fetoglobulin NOT_TRANSLATED +HP:0004646 Decreased size of nasal bone NOT_TRANSLATED +HP:0004646 Deficiency of nasal bone NOT_TRANSLATED +HP:0004646 Hypotrophic nasal bone NOT_TRANSLATED +HP:0004646 Nasal bone hypoplasia NOT_TRANSLATED +HP:0004646 Small nasal bone NOT_TRANSLATED +HP:0004646 Underdevelopment of nasal bone NOT_TRANSLATED +HP:0004660 Atrophy of facial musculature NOT_TRANSLATED +HP:0004660 Decreased size of facial muscles NOT_TRANSLATED +HP:0004660 Deficiency of facial musculature NOT_TRANSLATED +HP:0004660 Hypotrophic facial musculature NOT_TRANSLATED +HP:0004660 Small facial muscles NOT_TRANSLATED +HP:0004660 Underdevelopment of facial muscles NOT_TRANSLATED +HP:0004661 Weak frontalis muscle NOT_TRANSLATED +HP:0004661 Weakness of forehead muscle NOT_TRANSLATED +HP:0004679 Large ankle bones NOT_TRANSLATED +HP:0004681 Foot crease NOT_TRANSLATED +HP:0004681 Longitudinal groove on soles NOT_TRANSLATED +HP:0004686 Hypoplasia of the 3rd metatarsal bone NOT_TRANSLATED +HP:0004686 Short 3rd long bone of foot NOT_TRANSLATED +HP:0004688 Abnormal shape of ankle bones NOT_TRANSLATED +HP:0004689 Bilateral fourth metatarsal shortening NOT_TRANSLATED +HP:0004689 Short 4th long bone of foot NOT_TRANSLATED +HP:0004689 Short fourth metatarsals NOT_TRANSLATED +HP:0004689 Short fourth metatarsus NOT_TRANSLATED +HP:0004691 2-3 syndactyly of feet NOT_TRANSLATED +HP:0004691 2-3 toe soft tissue syndactyly NOT_TRANSLATED +HP:0004691 2-3 toes syndactyly NOT_TRANSLATED +HP:0004691 Syndactyly of second and third toes NOT_TRANSLATED +HP:0004691 Toe syndactyly, 2-3 NOT_TRANSLATED +HP:0004691 Webbed 2nd and 3rd toes NOT_TRANSLATED +HP:0004691 partial or complete syndactyly 2nd-3rd toes NOT_TRANSLATED +HP:0004692 Symmetric syndactyly, toes 4 and 5 NOT_TRANSLATED +HP:0004692 Syndactyly of toes 4 and 5 NOT_TRANSLATED +HP:0004692 Webbed 4th-5th toes NOT_TRANSLATED +HP:0004704 Hypoplasia of the fifth metatarsal bone NOT_TRANSLATED +HP:0004704 Short 5th long bone of foot NOT_TRANSLATED +HP:0004712 Abnormal rotation of the kidneys NOT_TRANSLATED +HP:0004712 Malrotation of the kidney NOT_TRANSLATED +HP:0004713 Reversible kidney failure NOT_TRANSLATED +HP:0004719 Echogenic kidneys NOT_TRANSLATED +HP:0004719 Increased echogenicity of the renal parenchyma NOT_TRANSLATED +HP:0004724 Calcium niersteen CANDIDATE +HP:0004727 Urine concentrating defect NOT_TRANSLATED +HP:0004727 Urine concentration defect NOT_TRANSLATED +HP:0004734 Cortical microcysts NOT_TRANSLATED +HP:0004734 Multiple renal cortical microcysts NOT_TRANSLATED +HP:0004734 Multiple small renal cortical cysts NOT_TRANSLATED +HP:0004736 Crossed-fused renal ectopia NOT_TRANSLATED +HP:0004736 Ectopic kidney with fusion NOT_TRANSLATED +HP:0004742 Abnormal collecting system NOT_TRANSLATED +HP:0004742 Abnormality of the renal collecting system NOT_TRANSLATED +HP:0004742 Renal collecting system anomalies NOT_TRANSLATED +HP:0004746 Dense deposit disease NOT_TRANSLATED +HP:0004746 Membranoproliferative glomerulonephritis type II NOT_TRANSLATED +HP:0004751 Episodes of ventricular tachycardia NOT_TRANSLATED +HP:0004754 Chronic atrial fibrillation NOT_TRANSLATED +HP:0004755 SVT NOT_TRANSLATED +HP:0004755 Supraventricular tachyarrhythmia NOT_TRANSLATED +HP:0004757 Atrial fibrillation, paroxysmal NOT_TRANSLATED +HP:0004757 Intermittent atrial fibrillation NOT_TRANSLATED +HP:0004757 Paroxysmal AF NOT_TRANSLATED +HP:0004758 Catecholaminergic polymorphic ventricular tachycardia NOT_TRANSLATED +HP:0004758 Exercise-induced polymorphic ventricular tachycardia NOT_TRANSLATED +HP:0004762 Heart right ventricle hypoplasia NOT_TRANSLATED +HP:0004762 Small right heart chamber NOT_TRANSLATED +HP:0004762 Underdeveloped right heart chamber NOT_TRANSLATED +HP:0004763 Episodic rapid heart beat NOT_TRANSLATED +HP:0004763 Episodic supraventricular tachycardia NOT_TRANSLATED +HP:0004768 Sparse scalp hair at front of head NOT_TRANSLATED +HP:0004768 Thin scalp hair at front of head NOT_TRANSLATED +HP:0004771 Premature greying of body hair NOT_TRANSLATED +HP:0004780 Hairy elbow NOT_TRANSLATED +HP:0004780 Hairy elbow syndrome NOT_TRANSLATED +HP:0004780 Hypertrichosis cubiti NOT_TRANSLATED +HP:0004780 Pilosity of elbow NOT_TRANSLATED +HP:0004783 Multiple duodenal polyps NOT_TRANSLATED +HP:0004784 Juvenile GI polyposis NOT_TRANSLATED +HP:0004789 Milk intolerance NOT_TRANSLATED +HP:0004790 Underdeveloped small intestine NOT_TRANSLATED +HP:0004791 Esophagus ulcer NOT_TRANSLATED +HP:0004791 Oesophagus ulcer NOT_TRANSLATED +HP:0004791 Oesophagus ulceration NOT_TRANSLATED +HP:0004794 Malrotation of the small intestine NOT_TRANSLATED +HP:0004796 GI obstruction NOT_TRANSLATED +HP:0004796 Obstruction in digestive tract NOT_TRANSLATED +HP:0004798 Gastrointestinal infections NOT_TRANSLATED +HP:0004798 Gastrointestinal infections, recurrent NOT_TRANSLATED +HP:0004798 Recurrent gastrointestinal infections NOT_TRANSLATED +HP:0004798 Recurrent infection of the GI tract NOT_TRANSLATED +HP:0004802 Episodic hemolysis NOT_TRANSLATED +HP:0004802 Episodic hemolytic anaemia NOT_TRANSLATED +HP:0004804 Congenital haemolytic anaemia NOT_TRANSLATED +HP:0004804 Congenital haemolytic anemia NOT_TRANSLATED +HP:0004804 Congenital hemolytic anaemia NOT_TRANSLATED +HP:0004804 Neonatal hemolytic anaemia NOT_TRANSLATED +HP:0004804 Neonatal hemolytic anemia NOT_TRANSLATED +HP:0004808 AML NOT_TRANSLATED +HP:0004808 Acute myeloblastic leukaemia NOT_TRANSLATED +HP:0004808 Acute myeloblastic leukemia NOT_TRANSLATED +HP:0004808 Acute myelocytic leukaemia NOT_TRANSLATED +HP:0004808 Acute myelocytic leukemia NOT_TRANSLATED +HP:0004808 Acute myelogenous leukaemia NOT_TRANSLATED +HP:0004808 Acute myelogenous leukemia NOT_TRANSLATED +HP:0004808 Acute myeloid leukaemia NOT_TRANSLATED +HP:0004810 Congenital dyserythropoietic anaemia NOT_TRANSLATED +HP:0004810 Congenital dyserythropoietic anemia NOT_TRANSLATED +HP:0004810 Congenital hypoplastic anaemia NOT_TRANSLATED +HP:0004812 B Acute Lymphoblastic Leukaemia NOT_TRANSLATED +HP:0004812 Pre-B-cell acute lymphoblastic leukaemia NOT_TRANSLATED +HP:0004812 Pre-B-cell acute lymphoblastic leukemia NOT_TRANSLATED +HP:0004813 Post-transfusion purpura NOT_TRANSLATED +HP:0004814 Fava bean-induced hemolytic anaemia NOT_TRANSLATED +HP:0004814 Hemolytic anaemia following ingestion of fava beans NOT_TRANSLATED +HP:0004814 Hemolytic anemia following ingestion of fava beans NOT_TRANSLATED +HP:0004817 Drug-sensitive hemolytic anaemia NOT_TRANSLATED +HP:0004818 Paroxysmal nocturnal haemoglobinuria NOT_TRANSLATED +HP:0004819 Normocytic hypoplastic anaemia NOT_TRANSLATED +HP:0004820 Acute myelomonocytic leukaemia NOT_TRANSLATED +HP:0004821 Hypermature neutrophils NOT_TRANSLATED +HP:0004821 Hypersegmentation of neutrophil nuclei in peripheral blood NOT_TRANSLATED +HP:0004825 Increased Hb O2 affinity NOT_TRANSLATED +HP:0004825 Increased Hb oxygen affinity NOT_TRANSLATED +HP:0004825 Increased haemoglobin O2 affinity NOT_TRANSLATED +HP:0004825 Increased haemoglobin oxygen affinity NOT_TRANSLATED +HP:0004825 Increased hemoglobin O2 affinity NOT_TRANSLATED +HP:0004826 Folate-unresponsive megaloblastic anaemia NOT_TRANSLATED +HP:0004828 Myelodysplasia with sideroblastosis NOT_TRANSLATED +HP:0004828 Refractory anaemia with ringed sideroblasts NOT_TRANSLATED +HP:0004831 Recurrent thromboembolic disease NOT_TRANSLATED +HP:0004836 Acute promyelocytic leukaemia NOT_TRANSLATED +HP:0004839 hereditary pyropoikilocytosis NOT_TRANSLATED +HP:0004840 Hypochromic microcytic anaemia NOT_TRANSLATED +HP:0004840 Hypochromic, microcytic anaemia NOT_TRANSLATED +HP:0004840 Hypochromic, microcytic anemia NOT_TRANSLATED +HP:0004841 Factor XII deficiency NOT_TRANSLATED +HP:0004841 Hageman factor deficiency NOT_TRANSLATED +HP:0004844 Coombs-positive hemolytic anaemia NOT_TRANSLATED +HP:0004844 Direct Coombs positive NOT_TRANSLATED +HP:0004845 AML-M5 NOT_TRANSLATED +HP:0004845 AMoL NOT_TRANSLATED +HP:0004845 Acute monoblastic leukaemia NOT_TRANSLATED +HP:0004845 Acute monoblastic leukemia NOT_TRANSLATED +HP:0004845 Acute monocytic leukaemia NOT_TRANSLATED +HP:0004846 Excessive bleeding during surgery NOT_TRANSLATED +HP:0004846 Protracted bleeding after surgery NOT_TRANSLATED +HP:0004848 Ph-positive acute lymphoblastic leukaemia NOT_TRANSLATED +HP:0004848 Philadelphia-positive acute lymphoblastic leukaemia NOT_TRANSLATED +HP:0004848 Philadelphia-positive acute lymphoblastic leukemia NOT_TRANSLATED +HP:0004850 Recurrent deep vein blood clot NOT_TRANSLATED +HP:0004850 Recurrent venous thrombosis NOT_TRANSLATED +HP:0004851 Folate-responsive megaloblastic anaemia NOT_TRANSLATED +HP:0004852 Low leukocyte alkaline phosphatase NOT_TRANSLATED +HP:0004852 Reduced leukocyte ALP NOT_TRANSLATED +HP:0004855 Protein S deficiency NOT_TRANSLATED +HP:0004856 Normochromic microcytic anaemia NOT_TRANSLATED +HP:0004857 Hyperchromic macrocytic anaemia NOT_TRANSLATED +HP:0004860 Thiamine-responsive megaloblastic anaemia NOT_TRANSLATED +HP:0004861 Refractory macrocytic anaemia NOT_TRANSLATED +HP:0004863 Compensated hemolytic anaemia NOT_TRANSLATED +HP:0004864 Refractory sideroblastic anaemia NOT_TRANSLATED +HP:0004870 Chronic hemolytic anaemia NOT_TRANSLATED +HP:0004870 hemolytic anemia, chronic NOT_TRANSLATED +HP:0004872 Recurrent abdominal hernia NOT_TRANSLATED +HP:0004876 Neonatal pneumothorax NOT_TRANSLATED +HP:0004878 Dependence on diaphragmatic breathing NOT_TRANSLATED +HP:0004878 Muscle weakness between ribs NOT_TRANSLATED +HP:0004879 Episodic hyperventilation NOT_TRANSLATED +HP:0004879 Intermittent overbreathing NOT_TRANSLATED +HP:0004881 Episodic slow breathing NOT_TRANSLATED +HP:0004881 Episodic under breathing NOT_TRANSLATED +HP:0004885 Episodic difficulty breathing NOT_TRANSLATED +HP:0004885 respiratory distress, episodic NOT_TRANSLATED +HP:0004887 Respiratory distress necessitating mechanical ventilation NOT_TRANSLATED +HP:0004887 Respiratory distress requiring endotracheal intubation NOT_TRANSLATED +HP:0004887 Respiratory distress requiring mechanical ventilation NOT_TRANSLATED +HP:0004890 Elevated lung artery pressure NOT_TRANSLATED +HP:0004890 increased pulmonary artery pressure NOT_TRANSLATED +HP:0004897 Metabolic crises during febrile infections NOT_TRANSLATED +HP:0004901 Exercise-induced lactic acidosis NOT_TRANSLATED +HP:0004904 MODY NOT_TRANSLATED +HP:0004904 Maturity onset diabetes of the young NOT_TRANSLATED +HP:0004905 Vitamin A deficiency NOT_TRANSLATED +HP:0004910 HCO3-wasting renal tubular acidosis NOT_TRANSLATED +HP:0004910 Renal bicarbonate wasting NOT_TRANSLATED +HP:0004911 Recurrent episodes of acidosis NOT_TRANSLATED +HP:0004914 Episodic infantile hypoglycemia NOT_TRANSLATED +HP:0004914 Recurrent low blood sugar in infant NOT_TRANSLATED +HP:0004915 Impaired galactose metabolism NOT_TRANSLATED +HP:0004916 Generalised distal tubular acidosis NOT_TRANSLATED +HP:0004918 Non-gap acidosis NOT_TRANSLATED +HP:0004921 Abnormal Mg concentration NOT_TRANSLATED +HP:0004921 Abnormal magnesium metabolism NOT_TRANSLATED +HP:0004921 Abnormality of magnesium homeostasis NOT_TRANSLATED +HP:0004924 Abnormal glucose oral tolerance test NOT_TRANSLATED +HP:0004930 Abnormality of the lung blood vessels NOT_TRANSLATED +HP:0004931 Hardened artery wall in small cerebral arteries NOT_TRANSLATED +HP:0004933 Type A aortic dissection NOT_TRANSLATED +HP:0004935 Pulmonary atresia NOT_TRANSLATED +HP:0004936 Blood clot in vein NOT_TRANSLATED +HP:0004938 Twisted cerebral arteries NOT_TRANSLATED +HP:0004940 Generalised arterial calcification NOT_TRANSLATED +HP:0004942 Aortic dilatation NOT_TRANSLATED +HP:0004942 Bulge in wall of large artery that carries blood away from heart NOT_TRANSLATED +HP:0004943 Accelerated plaque build-up in arteries NOT_TRANSLATED +HP:0004944 Brain aneurysm NOT_TRANSLATED +HP:0004944 Cerebral aneurysm NOT_TRANSLATED +HP:0004944 Cerebral artery aneurysm NOT_TRANSLATED +HP:0004944 Intracranial aneurysm NOT_TRANSLATED +HP:0004947 Arteriovenous fistulas NOT_TRANSLATED +HP:0004948 Twisted blood vessels NOT_TRANSLATED +HP:0004950 Arterial disease of legs NOT_TRANSLATED +HP:0004950 Occlusive arterial disease NOT_TRANSLATED +HP:0004950 Occlusive vascular disease NOT_TRANSLATED +HP:0004950 Peripheral artery disease NOT_TRANSLATED +HP:0004950 Peripheral artery occlusive disease NOT_TRANSLATED +HP:0004950 Peripheral vascular disease NOT_TRANSLATED +HP:0004955 Arterial tortuosity, general NOT_TRANSLATED +HP:0004955 Arterial tortuosity, generalised NOT_TRANSLATED +HP:0004955 Arterial tortuosity, generalized NOT_TRANSLATED +HP:0004955 Generalised arterial tortuosity NOT_TRANSLATED +HP:0004955 Generalised twisted arteries NOT_TRANSLATED +HP:0004955 Generalized twisted arteries NOT_TRANSLATED +HP:0004959 Dilatation of the descending thoracic aorta NOT_TRANSLATED +HP:0004960 Absent lung artery NOT_TRANSLATED +HP:0004960 Missing pulmonary artery NOT_TRANSLATED +HP:0004964 Hypertrophy of the pulmonary artery wall NOT_TRANSLATED +HP:0004968 Recurrent cerebral haemorrhage NOT_TRANSLATED +HP:0004968 Recurrent hemorrhagic stroke NOT_TRANSLATED +HP:0004969 Narrowing of peripheral lung artery NOT_TRANSLATED +HP:0004969 Peripheral pulmonic stenosis NOT_TRANSLATED +HP:0004969 peripheral pulmonary stenosis NOT_TRANSLATED +HP:0004970 Aneurysm of the ascending tubular aorta NOT_TRANSLATED +HP:0004970 Ascending aorta dilation NOT_TRANSLATED +HP:0004970 Ascending aortic aneurysm NOT_TRANSLATED +HP:0004970 Ascending aortic dilation NOT_TRANSLATED +HP:0004970 Bulging of wall of large artery located above heart NOT_TRANSLATED +HP:0004970 Dilatation of ascending aorta NOT_TRANSLATED +HP:0004971 Underdeveloped lung artery NOT_TRANSLATED +HP:0004971 Underdeveloped pulmonary artery NOT_TRANSLATED +HP:0004975 Erlenmeyer flask deformity of distal femur NOT_TRANSLATED +HP:0004975 Erlenmeyer flask femora NOT_TRANSLATED +HP:0004975 Erlenmeyer flask shaped thighbone NOT_TRANSLATED +HP:0004976 Dislocations of the knees NOT_TRANSLATED +HP:0004976 Knee dislocations NOT_TRANSLATED +HP:0004977 Bilateral absence of radius NOT_TRANSLATED +HP:0004979 Increased bone density in wide portion of long bone NOT_TRANSLATED +HP:0004979 Sclerotic metaphyses NOT_TRANSLATED +HP:0004980 Rarefaction of the metaphyses NOT_TRANSLATED +HP:0004987 Mesomelia of the lower limbs NOT_TRANSLATED +HP:0004987 Mesomelic lower limb shortening NOT_TRANSLATED +HP:0004993 Slender long bones with narrow shaft NOT_TRANSLATED +HP:0005001 Recurrent dislocation of patellas NOT_TRANSLATED +HP:0005003 Absent/small end part of innermost thighbone NOT_TRANSLATED +HP:0005003 Absent/underdeveloped end part of innermost thighbone NOT_TRANSLATED +HP:0005005 Bowing of thighbone at birth, straightening with time NOT_TRANSLATED +HP:0005009 Dumbbell-shaped long bone in upper arm NOT_TRANSLATED +HP:0005011 Mesomelia of the upper limbs NOT_TRANSLATED +HP:0005011 Upper limb brachymesomelia NOT_TRANSLATED +HP:0005019 Thickening of shaft or central part of long bones NOT_TRANSLATED +HP:0005021 Dislocated elbows on both sides NOT_TRANSLATED +HP:0005028 Wide innermost wide portion of shankbone bone NOT_TRANSLATED +HP:0005028 Wide innermost wide portion of shinbone bone NOT_TRANSLATED +HP:0005033 Distal shortening of ulna NOT_TRANSLATED +HP:0005033 Hypoplastic distal ulna NOT_TRANSLATED +HP:0005035 Short toe bones NOT_TRANSLATED +HP:0005039 Multiple exostoses of long tubular bones NOT_TRANSLATED +HP:0005041 Irregular capital femoral epiphyses NOT_TRANSLATED +HP:0005041 Irregular end part of innermost thighbone NOT_TRANSLATED +HP:0005041 Irregular proximal femoral epiphyses NOT_TRANSLATED +HP:0005043 Irregular proximal humeral metaphyses NOT_TRANSLATED +HP:0005048 Fusion of wrist bones NOT_TRANSLATED +HP:0005050 Anterior/lateral radial head dislocation NOT_TRANSLATED +HP:0005059 Joint pain/Joint inflammation NOT_TRANSLATED +HP:0005063 Fragmented, irregular end part of bone NOT_TRANSLATED +HP:0005066 Cone-shaped end part of long bone fused within their wide portion of wide bone NOT_TRANSLATED +HP:0005067 Overgrowth of innermost part of calf bone NOT_TRANSLATED +HP:0005072 Increased laxity of wrists NOT_TRANSLATED +HP:0005072 Increased wrist mobility NOT_TRANSLATED +HP:0005084 Anterior dislocation of radial head NOT_TRANSLATED +HP:0005092 Streak increase in bone density in wide portion of wide bone NOT_TRANSLATED +HP:0005100 Premature birth following premature rupture of foetal membranes NOT_TRANSLATED +HP:0005101 Hearing loss, high-frequency NOT_TRANSLATED +HP:0005101 High frequency hearing loss NOT_TRANSLATED +HP:0005101 High-frequency deafness NOT_TRANSLATED +HP:0005101 Progressive high frequency hearing loss NOT_TRANSLATED +HP:0005101 Progressive high-frequency hearing loss NOT_TRANSLATED +HP:0005102 Progressive cochlear degeneration NOT_TRANSLATED +HP:0005103 Cartilaginous ossification of pinnae NOT_TRANSLATED +HP:0005103 Ear cartilage calcification NOT_TRANSLATED +HP:0005103 Ossification of pinnae NOT_TRANSLATED +HP:0005103 Petrified ear NOT_TRANSLATED +HP:0005104 Decreased size of nasal septum NOT_TRANSLATED +HP:0005104 Decreased size of septum of nose NOT_TRANSLATED +HP:0005104 Hypoplasia of septum of nose NOT_TRANSLATED +HP:0005104 Small nasal septum NOT_TRANSLATED +HP:0005104 Small septum of nose NOT_TRANSLATED +HP:0005105 Abnormal nose morphology NOT_TRANSLATED +HP:0005105 Abnormal of morphology of nose NOT_TRANSLATED +HP:0005105 Abnormal of nasal shape NOT_TRANSLATED +HP:0005105 Abnormal of shape of nose NOT_TRANSLATED +HP:0005107 Abnormality of the sacrum NOT_TRANSLATED +HP:0005108 Abnormality of the intervertebral disc NOT_TRANSLATED +HP:0005108 Abnormality of the intervertebral disk NOT_TRANSLATED +HP:0005109 Abnormality of the calcaneal tendon NOT_TRANSLATED +HP:0005110 Quivering upper heart chambers resulting in irregular heartbeat NOT_TRANSLATED +HP:0005112 Dilatation of the abdominal aorta NOT_TRANSLATED +HP:0005113 Aortic arch dilatation NOT_TRANSLATED +HP:0005113 Dilatation of the aortic arch NOT_TRANSLATED +HP:0005115 Supraventricular arrhythmias NOT_TRANSLATED +HP:0005117 Elevated diastolic BP NOT_TRANSLATED +HP:0005120 Abnormality of cardiac atrium morphology NOT_TRANSLATED +HP:0005120 Abnormality of heart atrium NOT_TRANSLATED +HP:0005121 Posterior vertebral body scalloping NOT_TRANSLATED +HP:0005133 Dilated heart right ventricle NOT_TRANSLATED +HP:0005134 Absent pulmonary valve NOT_TRANSLATED +HP:0005135 EKG: T-wave abnormalities NOT_TRANSLATED +HP:0005135 T-wave abnormalities NOT_TRANSLATED +HP:0005136 Premature calcification of mitral annulus NOT_TRANSLATED +HP:0005144 Thickened interventricular septum NOT_TRANSLATED +HP:0005145 Narrowing of coronary artery NOT_TRANSLATED +HP:0005146 Calcifications of the cardiac valves NOT_TRANSLATED +HP:0005151 Proximal aortic coarctation NOT_TRANSLATED +HP:0005152 Arachnocytosis of the myocardium NOT_TRANSLATED +HP:0005152 Foamy myocardial transformation NOT_TRANSLATED +HP:0005152 Focal lipid cardiomyopathy NOT_TRANSLATED +HP:0005152 Infantile cardiomyopathy with histiocytoid changes NOT_TRANSLATED +HP:0005152 Infantile xanthomatous cardiomyopathy NOT_TRANSLATED +HP:0005152 Isolated cardiac lipidosis NOT_TRANSLATED +HP:0005152 Myocardial or conduction system hamartoma NOT_TRANSLATED +HP:0005152 Oncocytic cardiomyopathy NOT_TRANSLATED +HP:0005155 Idioventricular escape rhythm NOT_TRANSLATED +HP:0005156 Left atrium hypoplasia NOT_TRANSLATED +HP:0005156 Underdeveloped left heart atrium NOT_TRANSLATED +HP:0005157 Symmetric, concentric, hypertrophic cardiomyopathy NOT_TRANSLATED +HP:0005160 Total anomalous pulmonary venous connection NOT_TRANSLATED +HP:0005160 Total anomalous pulmonary venous drainage NOT_TRANSLATED +HP:0005162 Impaired left ventricular function NOT_TRANSLATED +HP:0005162 Left ventricular dysfunction NOT_TRANSLATED +HP:0005162 Left ventricular failure NOT_TRANSLATED +HP:0005162 Left ventricular impairment NOT_TRANSLATED +HP:0005162 Left-sided heart failure NOT_TRANSLATED +HP:0005164 Dysplasia of pulmonary valve NOT_TRANSLATED +HP:0005164 Pulmonary valve dysplasia NOT_TRANSLATED +HP:0005165 Electrocardiographic short PR interval NOT_TRANSLATED +HP:0005165 Short P-R interval NOT_TRANSLATED +HP:0005165 Shortened PR interval on EKG NOT_TRANSLATED +HP:0005172 Left posterior hemiblock NOT_TRANSLATED +HP:0005177 Premature hardening of arteries NOT_TRANSLATED +HP:0005180 Tricuspid insufficiency NOT_TRANSLATED +HP:0005180 Tricuspid valve regurgitation NOT_TRANSLATED +HP:0005181 Premature coronary artery disease NOT_TRANSLATED +HP:0005191 Dislocated knee since birth NOT_TRANSLATED +HP:0005194 Flattened head of long bone of foot NOT_TRANSLATED +HP:0005197 Generalised morning stiffness NOT_TRANSLATED +HP:0005198 Stiff hinge joints NOT_TRANSLATED +HP:0005199 Absent abdominal musculature NOT_TRANSLATED +HP:0005203 Boerhaave syndrome NOT_TRANSLATED +HP:0005203 Spontaneous esophageal rupture NOT_TRANSLATED +HP:0005207 Increased stomach size NOT_TRANSLATED +HP:0005208 Secretory diarrhoea NOT_TRANSLATED +HP:0005210 Hypoplasia of the colon NOT_TRANSLATED +HP:0005210 Underdeveloped colon NOT_TRANSLATED +HP:0005213 Pancreatic calcifications NOT_TRANSLATED +HP:0005214 Bowel obstruction NOT_TRANSLATED +HP:0005214 Intestinal blockage NOT_TRANSLATED +HP:0005216 Chewing difficulties NOT_TRANSLATED +HP:0005216 Chewing difficulty NOT_TRANSLATED +HP:0005216 Difficulty chewing NOT_TRANSLATED +HP:0005218 Perianal fistula NOT_TRANSLATED +HP:0005219 Intrinsic factor absent from gastric juice NOT_TRANSLATED +HP:0005222 Bowel diverticula NOT_TRANSLATED +HP:0005224 Perirectal abscess NOT_TRANSLATED +HP:0005225 Intestinal oedema NOT_TRANSLATED +HP:0005227 Multiple adenomatous colon polyps NOT_TRANSLATED +HP:0005227 Multiple colonic adenomatous polyps NOT_TRANSLATED +HP:0005233 Hypoplastic gallbladder NOT_TRANSLATED +HP:0005242 Biliary atresia, extrahepatic NOT_TRANSLATED +HP:0005244 Death of digestive organ tissue due to poor blood supply NOT_TRANSLATED +HP:0005244 GI infarctions NOT_TRANSLATED +HP:0005245 Hypoplastic intestines NOT_TRANSLATED +HP:0005245 Underdeveloped instestine NOT_TRANSLATED +HP:0005246 Menetrier disease NOT_TRANSLATED +HP:0005247 Abdominal muscular hypoplasia NOT_TRANSLATED +HP:0005248 Bile duct paucity NOT_TRANSLATED +HP:0005248 Intrahepatic atresia of biliary duct NOT_TRANSLATED +HP:0005253 Increased anterioposterior diameter of chest NOT_TRANSLATED +HP:0005254 Small chest on one side NOT_TRANSLATED +HP:0005254 Underdeveloped chest on one side NOT_TRANSLATED +HP:0005255 Pectoralis minor aplasia NOT_TRANSLATED +HP:0005256 Unilateral aplasia of pectoralis major muscle NOT_TRANSLATED +HP:0005257 Small chest NOT_TRANSLATED +HP:0005257 Small thorax NOT_TRANSLATED +HP:0005258 Small/absent pec muscle NOT_TRANSLATED +HP:0005258 Underdeveloped/absent pec muscle NOT_TRANSLATED +HP:0005261 Bleeding within a joint NOT_TRANSLATED +HP:0005261 Hemarthroses NOT_TRANSLATED +HP:0005261 Hemarthrosis NOT_TRANSLATED +HP:0005261 Joint haemorrhage NOT_TRANSLATED +HP:0005261 Spontaneous joint haemorrhage NOT_TRANSLATED +HP:0005261 Spontaneous joint hemorrhage NOT_TRANSLATED +HP:0005263 Stomach inflammation NOT_TRANSLATED +HP:0005264 Anomaly of the gallbladder NOT_TRANSLATED +HP:0005265 Abnormality of the jejunum NOT_TRANSLATED +HP:0005266 Intestinal polyps NOT_TRANSLATED +HP:0005268 Early fetal demise NOT_TRANSLATED +HP:0005268 Spontaneous abortion NOT_TRANSLATED +HP:0005272 Deep laugh lines NOT_TRANSLATED +HP:0005272 Deep nasolabial crease NOT_TRANSLATED +HP:0005272 Deep nasolabial fold NOT_TRANSLATED +HP:0005272 Deep nasolabial groove NOT_TRANSLATED +HP:0005272 Deep smile lines NOT_TRANSLATED +HP:0005272 Nasolabial crease, prominent NOT_TRANSLATED +HP:0005272 Prominent laugh lines NOT_TRANSLATED +HP:0005272 Prominent nasolabial groove NOT_TRANSLATED +HP:0005272 Prominent smile lines NOT_TRANSLATED +HP:0005273 Absent nasal septum NOT_TRANSLATED +HP:0005273 Ageneis of nasal septal cartilage NOT_TRANSLATED +HP:0005273 Failure of development of nasal septal cartilage NOT_TRANSLATED +HP:0005274 Bulbous tip of nose NOT_TRANSLATED +HP:0005274 Hyperplasia of nasal tip NOT_TRANSLATED +HP:0005274 Hyperplasia of tip of nose NOT_TRANSLATED +HP:0005274 Hypertrophy of nasal tip NOT_TRANSLATED +HP:0005274 Hypertrophy of tip of nose NOT_TRANSLATED +HP:0005274 Large nasal tip NOT_TRANSLATED +HP:0005274 Large tip of nose NOT_TRANSLATED +HP:0005274 Prominent tip of nose NOT_TRANSLATED +HP:0005274 Pronounced nasal tip NOT_TRANSLATED +HP:0005274 Pronounced tip of nose NOT_TRANSLATED +HP:0005275 Cartilaginous nasal ossification NOT_TRANSLATED +HP:0005278 Aplasia of nasal tip NOT_TRANSLATED +HP:0005278 Decreased size of nasal tip NOT_TRANSLATED +HP:0005278 Decreased size of tip of nose NOT_TRANSLATED +HP:0005278 Deficient nasal tip NOT_TRANSLATED +HP:0005278 Hypoplasia of tip of nose NOT_TRANSLATED +HP:0005278 Hypotrophic nasal tip NOT_TRANSLATED +HP:0005278 Hypotrophic tip of nose NOT_TRANSLATED +HP:0005278 Small nasal tip NOT_TRANSLATED +HP:0005278 Small tip of nose NOT_TRANSLATED +HP:0005278 Underdevelopment of nasal tip NOT_TRANSLATED +HP:0005278 Underdevelopment of tip of nose NOT_TRANSLATED +HP:0005280 Concave bridge of nose NOT_TRANSLATED +HP:0005280 Concave nasal bridge NOT_TRANSLATED +HP:0005280 Depressed bridge of nose NOT_TRANSLATED +HP:0005280 Depressed nasal root NOT_TRANSLATED +HP:0005280 Depressed nasal root/bridge NOT_TRANSLATED +HP:0005280 Flat bridge of nose NOT_TRANSLATED +HP:0005280 Flat nasal bridge NOT_TRANSLATED +HP:0005280 Flat nasal root NOT_TRANSLATED +HP:0005280 Flat, nasal bridge NOT_TRANSLATED +HP:0005280 Flattened nasal bridge NOT_TRANSLATED +HP:0005280 Low nasal bridge NOT_TRANSLATED +HP:0005280 Low nasal root NOT_TRANSLATED +HP:0005280 Retruded bridge of nose NOT_TRANSLATED +HP:0005280 Retruded nasal bridge NOT_TRANSLATED +HP:0005281 Decreased size of bridge of nose NOT_TRANSLATED +HP:0005281 Decreased size of nasal bridge NOT_TRANSLATED +HP:0005281 Hypoplastic bridge of nose NOT_TRANSLATED +HP:0005281 Hypotrophic bridge of nose NOT_TRANSLATED +HP:0005281 Hypotrophic nasal bridge NOT_TRANSLATED +HP:0005281 Small bridge of nose NOT_TRANSLATED +HP:0005281 Small nasal bridge NOT_TRANSLATED +HP:0005285 Absent bridge of nose NOT_TRANSLATED +HP:0005285 Agenesis of bridge of nose NOT_TRANSLATED +HP:0005285 Agenesis of nasal bridge NOT_TRANSLATED +HP:0005285 Missing bridge of nose NOT_TRANSLATED +HP:0005285 Missing nasal bridge NOT_TRANSLATED +HP:0005288 Abnormal naris morphology NOT_TRANSLATED +HP:0005288 Abnormality of the nares NOT_TRANSLATED +HP:0005288 Abnormality of the nostrils NOT_TRANSLATED +HP:0005288 Anomaly of the nares NOT_TRANSLATED +HP:0005288 Deformity of the nares NOT_TRANSLATED +HP:0005288 Deformity of the nostrils NOT_TRANSLATED +HP:0005288 Malformation of the nares NOT_TRANSLATED +HP:0005288 Malformation of the nostrils NOT_TRANSLATED +HP:0005289 Anomaly of the nasolabial region NOT_TRANSLATED +HP:0005289 Deformity of the nasolabial region NOT_TRANSLATED +HP:0005289 Malformation of the nasolabial region NOT_TRANSLATED +HP:0005290 Aplasia of internal carotid artery NOT_TRANSLATED +HP:0005290 Decreased size of internal carotid artery NOT_TRANSLATED +HP:0005290 Deficiency of internal carotid artery NOT_TRANSLATED +HP:0005290 Hypotrophic internal carotid artery NOT_TRANSLATED +HP:0005290 Small internal carotid artery NOT_TRANSLATED +HP:0005293 Poorly functioning veins NOT_TRANSLATED +HP:0005301 PLSVC NOT_TRANSLATED +HP:0005302 Tortuous carotid arteries NOT_TRANSLATED +HP:0005304 Underdeveloped lung veins NOT_TRANSLATED +HP:0005305 Blood clot in cerebral vein NOT_TRANSLATED +HP:0005305 Cerebral thrombosis NOT_TRANSLATED +HP:0005305 Cerebral vein thrombosis NOT_TRANSLATED +HP:0005306 Capillary hemangiomata NOT_TRANSLATED +HP:0005306 Strawberry birthmark NOT_TRANSLATED +HP:0005311 Absent lung vessels NOT_TRANSLATED +HP:0005320 Lack of facial fat below the skin NOT_TRANSLATED +HP:0005321 Treacher Collins syndrome NOT_TRANSLATED +HP:0005322 Low hanging nasal septum NOT_TRANSLATED +HP:0005322 Low hanging septum of nose NOT_TRANSLATED +HP:0005322 Prominent septum of nose NOT_TRANSLATED +HP:0005322 Visible nasal septum NOT_TRANSLATED +HP:0005322 Visible septum of nose NOT_TRANSLATED +HP:0005323 Enlargement of half of face NOT_TRANSLATED +HP:0005323 Facial hemihyperplasia NOT_TRANSLATED +HP:0005323 Facial hemihypertophy NOT_TRANSLATED +HP:0005323 Friedreich's disease NOT_TRANSLATED +HP:0005323 Hemifacial enlargement NOT_TRANSLATED +HP:0005323 Hypertrophy of half of face NOT_TRANSLATED +HP:0005323 Increase in size of half of face NOT_TRANSLATED +HP:0005323 Overgrowth of half of face NOT_TRANSLATED +HP:0005325 Unusual hairline with hair growth on temples extending to lateral eyebrow NOT_TRANSLATED +HP:0005326 Small philtrum NOT_TRANSLATED +HP:0005328 Aged facial appearance NOT_TRANSLATED +HP:0005328 Premature aged appearance NOT_TRANSLATED +HP:0005328 Prematurely aged face NOT_TRANSLATED +HP:0005328 Prematurely aged facial appearance NOT_TRANSLATED +HP:0005328 Wizened face NOT_TRANSLATED +HP:0005329 Unchanging facial expression NOT_TRANSLATED +HP:0005335 Somnolent facial expression NOT_TRANSLATED +HP:0005336 Darkening of the forehead NOT_TRANSLATED +HP:0005338 Lateral hypoplasia of eyebrows NOT_TRANSLATED +HP:0005338 Lateral thinning of eyebrows NOT_TRANSLATED +HP:0005338 Laterally sparse eyebrow NOT_TRANSLATED +HP:0005338 Laterally sparse eyebrows NOT_TRANSLATED +HP:0005338 Limited hair on end of eyebrow NOT_TRANSLATED +HP:0005338 Sparse lateral eyebrows NOT_TRANSLATED +HP:0005343 Hypoplastic bladder NOT_TRANSLATED +HP:0005343 Underdeveloped bladder NOT_TRANSLATED +HP:0005344 Abnormality of the carotid arteries NOT_TRANSLATED +HP:0005345 Abnormality of the vena cava NOT_TRANSLATED +HP:0005349 Hypoplastic epiglottis NOT_TRANSLATED +HP:0005353 Susceptibility to herpesvirus NOT_TRANSLATED +HP:0005354 Absent cellular immunity NOT_TRANSLATED +HP:0005359 Absent thymic shadow NOT_TRANSLATED +HP:0005359 Absent thymus NOT_TRANSLATED +HP:0005359 Athymia NOT_TRANSLATED +HP:0005359 Lack of thymic shadow NOT_TRANSLATED +HP:0005365 Absence of B cells NOT_TRANSLATED +HP:0005365 Absent B cells NOT_TRANSLATED +HP:0005368 Defective humoral immunity NOT_TRANSLATED +HP:0005372 Reduced B cell function NOT_TRANSLATED +HP:0005376 Recurrent H. influenzae infections NOT_TRANSLATED +HP:0005381 Increased susceptibility to neisseria meningitidis infections NOT_TRANSLATED +HP:0005390 Frequent opportunistic infections NOT_TRANSLATED +HP:0005401 Frequent candida infections NOT_TRANSLATED +HP:0005403 Decrease in T cell count NOT_TRANSLATED +HP:0005403 Decrease in T cell number NOT_TRANSLATED +HP:0005403 Decreased numbers of circulating T cells NOT_TRANSLATED +HP:0005403 Low T cell count NOT_TRANSLATED +HP:0005403 Reduced number of T cells NOT_TRANSLATED +HP:0005404 Increase in B cell count NOT_TRANSLATED +HP:0005404 Increase in B cell number NOT_TRANSLATED +HP:0005404 Increased number of B cells NOT_TRANSLATED +HP:0005406 Recurrent cutaneous pyogenic infections NOT_TRANSLATED +HP:0005406 Recurrent episodes of impetigo NOT_TRANSLATED +HP:0005406 Recurrent episodes of infectious dermatitis NOT_TRANSLATED +HP:0005406 Recurrent pyogenic skin infections NOT_TRANSLATED +HP:0005407 Abnormality of CD4+ T cells NOT_TRANSLATED +HP:0005407 CD4 T cell lymphopenia NOT_TRANSLATED +HP:0005407 CD4+ T-cell lymphopenia NOT_TRANSLATED +HP:0005411 Candida overgrowth syndrome NOT_TRANSLATED +HP:0005415 CD8+ T-cell lymphopenia NOT_TRANSLATED +HP:0005415 Decreased proportion of CD8+ T cells NOT_TRANSLATED +HP:0005415 Decreased proportion of CD8-positive, alpha-beta T cells NOT_TRANSLATED +HP:0005416 Decreased serum factor b NOT_TRANSLATED +HP:0005419 Decreased T lymphocyte activation NOT_TRANSLATED +HP:0005419 Decreased T-cell activation NOT_TRANSLATED +HP:0005419 Decreased T-lymphocyte activation NOT_TRANSLATED +HP:0005419 Defective T cell activation NOT_TRANSLATED +HP:0005419 Profound depletion of T4+ lymphocytes NOT_TRANSLATED +HP:0005421 Decreased serum C3 NOT_TRANSLATED +HP:0005421 Decreased serum complement C3 level NOT_TRANSLATED +HP:0005422 Absence of CD8+ T cells NOT_TRANSLATED +HP:0005425 Chronic sinopulmonary infection NOT_TRANSLATED +HP:0005425 Recurrent sinus and lung infections NOT_TRANSLATED +HP:0005430 Episodes of neisserial infection NOT_TRANSLATED +HP:0005430 Recurrent neisseria infections NOT_TRANSLATED +HP:0005432 Newborn gammaglobulin deficiency NOT_TRANSLATED +HP:0005435 T-cell dysfunction NOT_TRANSLATED +HP:0005439 Decreased projection of zygomaticomaxillary bone complex NOT_TRANSLATED +HP:0005439 Decreased size of zygomaticomaxillary bone complex NOT_TRANSLATED +HP:0005439 Deficiency of zygomaticomaxillary bone complex NOT_TRANSLATED +HP:0005439 Hypoplasia of malar bone complex NOT_TRANSLATED +HP:0005439 Hypoplasia of zygomaticomaxillary complex NOT_TRANSLATED +HP:0005439 Underdevelopment of zygomaticomaxillary bone complex NOT_TRANSLATED +HP:0005445 Widened posterior fossa NOT_TRANSLATED +HP:0005446 High mandibular plane angle NOT_TRANSLATED +HP:0005446 Steep mandibular plane angle NOT_TRANSLATED +HP:0005456 Agenesis of ethmoid sinuses NOT_TRANSLATED +HP:0005456 Failure of development of ethmoid sinuses NOT_TRANSLATED +HP:0005456 Missing ethmoid sinuses NOT_TRANSLATED +HP:0005458 Early closure of the bregma sutures NOT_TRANSLATED +HP:0005458 Early closure of the cranial sutures NOT_TRANSLATED +HP:0005458 Early closure of the fontanelles NOT_TRANSLATED +HP:0005458 Obliterated fontanelles NOT_TRANSLATED +HP:0005458 Premature closure of the bregma sutures NOT_TRANSLATED +HP:0005458 Premature closure of the cranial sutures NOT_TRANSLATED +HP:0005464 Cranial sclerosis NOT_TRANSLATED +HP:0005465 Enlargement of facial bones NOT_TRANSLATED +HP:0005465 Enlargement of facial skeleton NOT_TRANSLATED +HP:0005465 Enlargment of the facial bones NOT_TRANSLATED +HP:0005465 Excessive growth of facial bones NOT_TRANSLATED +HP:0005465 Excessive growth of facial skeleton NOT_TRANSLATED +HP:0005465 Hyperostosis of facial bones NOT_TRANSLATED +HP:0005465 Hyperostosis of facial skeleton NOT_TRANSLATED +HP:0005465 Hypertrophy of facial bones NOT_TRANSLATED +HP:0005465 Hypertrophy of facial skeleton NOT_TRANSLATED +HP:0005465 Hypertrophy of the facial bones NOT_TRANSLATED +HP:0005465 Increase in size of the facial bones NOT_TRANSLATED +HP:0005465 Increased ossification of facial bones NOT_TRANSLATED +HP:0005465 Increased ossification of facial skeleton NOT_TRANSLATED +HP:0005465 Overgrowth of facial bones NOT_TRANSLATED +HP:0005465 Overgrowth of facial skeleton NOT_TRANSLATED +HP:0005465 Overgrowth of the facial bones NOT_TRANSLATED +HP:0005466 Decreased size of bone of forehead NOT_TRANSLATED +HP:0005466 Hypoplastic frontal bones NOT_TRANSLATED +HP:0005466 Hypotrophic frontal bone NOT_TRANSLATED +HP:0005466 Hypotrophic frontal bones NOT_TRANSLATED +HP:0005466 Small bone of forehead NOT_TRANSLATED +HP:0005466 Thin bone of forehead NOT_TRANSLATED +HP:0005466 Underdevelopment of bone of forehead NOT_TRANSLATED +HP:0005469 Flat back of skull NOT_TRANSLATED +HP:0005469 Flat back of the head NOT_TRANSLATED +HP:0005469 Flat back of the skull NOT_TRANSLATED +HP:0005469 Flat posterior cranium NOT_TRANSLATED +HP:0005469 Flat posterior head NOT_TRANSLATED +HP:0005469 Posterior flattening of the skull NOT_TRANSLATED +HP:0005474 Poorly ossified calvaria NOT_TRANSLATED +HP:0005474 Poorly ossified calvarium NOT_TRANSLATED +HP:0005474 Skull soft on palpation NOT_TRANSLATED +HP:0005474 Soft calvaria NOT_TRANSLATED +HP:0005474 Soft skullcap NOT_TRANSLATED +HP:0005474 Undermineralized calvarium NOT_TRANSLATED +HP:0005478 Hyperplasia of frontal sinus NOT_TRANSLATED +HP:0005478 Hypertrophy of frontal sinus NOT_TRANSLATED +HP:0005478 Increased size of frontal sinus NOT_TRANSLATED +HP:0005478 Increased volume of frontal sinus NOT_TRANSLATED +HP:0005478 Large frontal sinus NOT_TRANSLATED +HP:0005479 Decreased IgE NOT_TRANSLATED +HP:0005479 IgE deficiency NOT_TRANSLATED +HP:0005483 Abnormality of the epiglottis NOT_TRANSLATED +HP:0005484 Microcefalie, postnataal CANDIDATE +HP:0005484 Microcefalie, verworven CANDIDATE +HP:0005484 Ontwikkeling van een kleine schedelomtrek bij normale omtrek bij geboorte CANDIDATE +HP:0005484 Postnatale vertraging van de schedelomtrek CANDIDATE +HP:0005484 Vertraging van de groei van het hoofd CANDIDATE +HP:0005484 Verworven microcefalie CANDIDATE +HP:0005486 Little cranial sutures NOT_TRANSLATED +HP:0005486 Little fontanelle NOT_TRANSLATED +HP:0005486 Microfontanelle NOT_TRANSLATED +HP:0005486 Small bregma sutures NOT_TRANSLATED +HP:0005486 Small cranial sutures NOT_TRANSLATED +HP:0005486 Small soft spot NOT_TRANSLATED +HP:0005487 Prominent frontal ridge NOT_TRANSLATED +HP:0005487 Prominent frontal suture NOT_TRANSLATED +HP:0005487 Prominent metopic suture NOT_TRANSLATED +HP:0005487 Ridging of frontal suture NOT_TRANSLATED +HP:0005487 Ridging of metopic suture NOT_TRANSLATED +HP:0005490 Macrocephaly, postnatal NOT_TRANSLATED +HP:0005502 Increased erythrocyte osmotic fragility NOT_TRANSLATED +HP:0005502 Increased red cell fragility NOT_TRANSLATED +HP:0005505 Refractory anaemia NOT_TRANSLATED +HP:0005506 Chronic myelocytic leukaemia NOT_TRANSLATED +HP:0005506 Chronic myelocytic leukemia NOT_TRANSLATED +HP:0005506 Chronic myelogenous leukaemia NOT_TRANSLATED +HP:0005506 Chronic myeloid leukaemia NOT_TRANSLATED +HP:0005506 Chronic myeloid leukemia NOT_TRANSLATED +HP:0005507 Haemoglobin Barts NOT_TRANSLATED +HP:0005507 Hb Barts NOT_TRANSLATED +HP:0005508 Waldenstrom macroglobulinemia NOT_TRANSLATED +HP:0005510 Transient decrease in blood erythrocyte number NOT_TRANSLATED +HP:0005511 Heinz body anaemia NOT_TRANSLATED +HP:0005518 Erythrocyte macrocytosis NOT_TRANSLATED +HP:0005518 Increased MCV NOT_TRANSLATED +HP:0005520 Chronic consumption coagulopathy NOT_TRANSLATED +HP:0005520 Compensated disseminated intravascular coagulation NOT_TRANSLATED +HP:0005522 Pyridoxine-responsive sideroblastic anaemia NOT_TRANSLATED +HP:0005523 Lymphoproliferative disorders NOT_TRANSLATED +HP:0005526 Lymphoid leukaemia NOT_TRANSLATED +HP:0005527 Fitzgerald factor deficiency NOT_TRANSLATED +HP:0005527 Kininogen deficiency NOT_TRANSLATED +HP:0005527 Williams factor deficiency NOT_TRANSLATED +HP:0005527 Williams-Fitzgerald-Flaujeac factor deficiency NOT_TRANSLATED +HP:0005528 Bone marrow failure NOT_TRANSLATED +HP:0005528 Bone marrow hypoplasia NOT_TRANSLATED +HP:0005528 Hypoplastic bone marrow NOT_TRANSLATED +HP:0005531 Acute biphenotypic leukaemia NOT_TRANSLATED +HP:0005531 Biphenotypic acute leukaemia NOT_TRANSLATED +HP:0005531 Myeloid/lymphoid leukaemia NOT_TRANSLATED +HP:0005531 Myeloid/lymphoid leukemia NOT_TRANSLATED +HP:0005532 Macrocytic dyserythropoietic anaemia NOT_TRANSLATED +HP:0005534 TMD NOT_TRANSLATED +HP:0005534 Transient leukaemia of Down syndrome NOT_TRANSLATED +HP:0005534 Transient leukemia of Down syndrome NOT_TRANSLATED +HP:0005534 Transient myeloproliferative disorder NOT_TRANSLATED +HP:0005537 Small platelet size NOT_TRANSLATED +HP:0005537 Small platelets NOT_TRANSLATED +HP:0005537 Small platelets size NOT_TRANSLATED +HP:0005540 Distorted red blood cells resembling keratocytes NOT_TRANSLATED +HP:0005540 RBC keratocytosis NOT_TRANSLATED +HP:0005542 Prolonged clotting time NOT_TRANSLATED +HP:0005543 Protein C deficiency NOT_TRANSLATED +HP:0005550 Chronic lymphatic leukaemia NOT_TRANSLATED +HP:0005550 Chronic lymphocytic leukaemia NOT_TRANSLATED +HP:0005550 Chronic lymphocytic leukemia NOT_TRANSLATED +HP:0005557 Abnormality of the malar arch NOT_TRANSLATED +HP:0005557 Abnormality of the zygomatic arch NOT_TRANSLATED +HP:0005557 Anomaly of the malar arch NOT_TRANSLATED +HP:0005557 Anomaly of the zygomatic arch NOT_TRANSLATED +HP:0005557 Deformity of the malar arch NOT_TRANSLATED +HP:0005557 Deformity of the zygomatic arch NOT_TRANSLATED +HP:0005557 Malformation of the malar arch NOT_TRANSLATED +HP:0005557 Malformation of the zygomatic arch NOT_TRANSLATED +HP:0005558 Chronic blood cancer NOT_TRANSLATED +HP:0005558 Chronic leukaemia NOT_TRANSLATED +HP:0005560 Imbalanced Hb synthesis NOT_TRANSLATED +HP:0005560 Imbalanced haemoglobin synthesis NOT_TRANSLATED +HP:0005561 Anomaly of the bone marrow cells NOT_TRANSLATED +HP:0005561 Bone marrow disease NOT_TRANSLATED +HP:0005562 Multiple kidney cysts NOT_TRANSLATED +HP:0005563 Decreased numbers of glomeruli NOT_TRANSLATED +HP:0005563 Oligonephronia NOT_TRANSLATED +HP:0005564 Absent renal corticomedullary differentiation NOT_TRANSLATED +HP:0005564 Loss of corticomedullary differentiation NOT_TRANSLATED +HP:0005565 Loss of definition of corticomedullary differentiation NOT_TRANSLATED +HP:0005571 Increased percent tubular reabsorption of phosphorus NOT_TRANSLATED +HP:0005575 Hemolytic uremic syndrome NOT_TRANSLATED +HP:0005576 Tubulointerstitial renal fibrosis NOT_TRANSLATED +HP:0005576 Tubulointerstitial scarring NOT_TRANSLATED +HP:0005579 Impaired reabsorption of Cl NOT_TRANSLATED +HP:0005579 Impaired reabsorption of Cl- NOT_TRANSLATED +HP:0005583 Disintegration of the tubular basement membrane NOT_TRANSLATED +HP:0005584 Cancer starting in small tubes in kidneys NOT_TRANSLATED +HP:0005584 Hypernephroma NOT_TRANSLATED +HP:0005584 Renal carcinoma NOT_TRANSLATED +HP:0005585 Patchy hyperpigmentation NOT_TRANSLATED +HP:0005585 Spotty increased pigmentation NOT_TRANSLATED +HP:0005586 Hyperpigmentation of exposed areas NOT_TRANSLATED +HP:0005586 Increased pigmentation in sun-exposed areas NOT_TRANSLATED +HP:0005588 Palmoplantar keratoderma, patchy NOT_TRANSLATED +HP:0005588 Patchy palmoplantar keratoderma NOT_TRANSLATED +HP:0005590 Patchy depigmentation NOT_TRANSLATED +HP:0005590 Patchy hypopigmentation NOT_TRANSLATED +HP:0005590 Spotty decreased pigmentation NOT_TRANSLATED +HP:0005592 Macromelanosomes NOT_TRANSLATED +HP:0005595 Generalised hyperkeratosis NOT_TRANSLATED +HP:0005595 Hyperkeratosis, generalised NOT_TRANSLATED +HP:0005595 Hyperkeratosis, generalized NOT_TRANSLATED +HP:0005598 Butterfly facial telangiectasia NOT_TRANSLATED +HP:0005599 Hair hypopigmentation NOT_TRANSLATED +HP:0005599 Loss of hair color NOT_TRANSLATED +HP:0005599 Loss of hair colour NOT_TRANSLATED +HP:0005600 Giant pigmented hairy nevus NOT_TRANSLATED +HP:0005600 Giant pigmented mole NOT_TRANSLATED +HP:0005600 Giant pigmented nevus NOT_TRANSLATED +HP:0005607 Tracheobronchial anomalies NOT_TRANSLATED +HP:0005608 Bilobed gallbladder NOT_TRANSLATED +HP:0005608 Double gallbladder NOT_TRANSLATED +HP:0005608 Gallbladder duplication NOT_TRANSLATED +HP:0005608 Gallbladder septated NOT_TRANSLATED +HP:0005613 Absent/small thighbone NOT_TRANSLATED +HP:0005613 Absent/underdeveloped thighbone NOT_TRANSLATED +HP:0005613 Hypoplastic to absent femora NOT_TRANSLATED +HP:0005613 Hypoplastic/aplastic femora NOT_TRANSLATED +HP:0005616 Advanced bone age NOT_TRANSLATED +HP:0005616 Early bone maturation NOT_TRANSLATED +HP:0005619 Thoracolumbar gibbus NOT_TRANSLATED +HP:0005619 Thoracolumbar gibbus deformity NOT_TRANSLATED +HP:0005620 Increased mobility of hinge joints NOT_TRANSLATED +HP:0005621 Trapezoidal shaped vertebral bodies NOT_TRANSLATED +HP:0005621 Trapezoidal vertebral bodies NOT_TRANSLATED +HP:0005622 Wide long bones NOT_TRANSLATED +HP:0005622 Widened long bones NOT_TRANSLATED +HP:0005623 Absent bone maturation of skullcap NOT_TRANSLATED +HP:0005623 Absent ossification of skull vault NOT_TRANSLATED +HP:0005627 Brachydactylie type D CANDIDATE +HP:0005632 Absent forearms NOT_TRANSLATED +HP:0005643 Brachydactyly of third toes NOT_TRANSLATED +HP:0005643 Short third toe NOT_TRANSLATED +HP:0005645 Intervertebral disc calcification NOT_TRANSLATED +HP:0005645 Multiple intervertebral disc calcifications NOT_TRANSLATED +HP:0005645 Multiple intervertebral disk calcifications NOT_TRANSLATED +HP:0005650 Cutaneous syndactyly between fingers 2 and 5 NOT_TRANSLATED +HP:0005653 Moderate generalised osteoporosis NOT_TRANSLATED +HP:0005661 Salmonella bone infection NOT_TRANSLATED +HP:0005671 Bilateral intracranial calcifications NOT_TRANSLATED +HP:0005681 Juvenile RA NOT_TRANSLATED +HP:0005681 Juvenile idiopathic arthritis NOT_TRANSLATED +HP:0005681 Rheumatoid arthritis, juvenile NOT_TRANSLATED +HP:0005682 Fusion of foot joint NOT_TRANSLATED +HP:0005682 Fusion of the subtalar joint NOT_TRANSLATED +HP:0005686 Patchy increase of bone mineral density NOT_TRANSLATED +HP:0005686 Uneven increase in bone density NOT_TRANSLATED +HP:0005687 Deformed head of long bone in upper arm NOT_TRANSLATED +HP:0005692 Joints move beyond expected range of motion NOT_TRANSLATED +HP:0005694 Partial fusion of innermost row of wrist bones NOT_TRANSLATED +HP:0005707 Bilateral digitalized thumb NOT_TRANSLATED +HP:0005709 Complete cutaneous syndactyly of second and third toes NOT_TRANSLATED +HP:0005709 Cutaneous 2,3 toe syndactyly NOT_TRANSLATED +HP:0005709 Cutaneous syndactyly of second and third toes NOT_TRANSLATED +HP:0005709 Webbed skin of 2nd-3rd toes NOT_TRANSLATED +HP:0005715 Flattened end part of knee bone NOT_TRANSLATED +HP:0005716 Lethal dwarfism identifiable at birth NOT_TRANSLATED +HP:0005722 Double jointed thumb NOT_TRANSLATED +HP:0005726 Short thumbs with bulbous tips NOT_TRANSLATED +HP:0005733 Spinal stenosis due to short pedicles NOT_TRANSLATED +HP:0005736 Hypoplasia of the tibia NOT_TRANSLATED +HP:0005736 Hypoplastic tibia NOT_TRANSLATED +HP:0005736 Short shinbone NOT_TRANSLATED +HP:0005736 Short skankbone NOT_TRANSLATED +HP:0005736 Short tibiae NOT_TRANSLATED +HP:0005736 Shortening of the shankbone NOT_TRANSLATED +HP:0005736 Shortening of the shinbone NOT_TRANSLATED +HP:0005736 Shortening of the tibia NOT_TRANSLATED +HP:0005743 Coxa plana NOT_TRANSLATED +HP:0005743 Legg-Calve-Perthes syndrome NOT_TRANSLATED +HP:0005743 Legg-Perthes disease NOT_TRANSLATED +HP:0005743 Morbus Legg-Calve-Perthes NOT_TRANSLATED +HP:0005743 Osteochondrosis of the femoral head NOT_TRANSLATED +HP:0005743 Osteonecrosis of the femoral head NOT_TRANSLATED +HP:0005743 Perthes-like femoral head changes NOT_TRANSLATED +HP:0005746 Osteosclerosis of the skull base NOT_TRANSLATED +HP:0005750 Contractures of the joints of the lower limbs NOT_TRANSLATED +HP:0005750 Contractures, lower limbs NOT_TRANSLATED +HP:0005756 Epiphyseal stippling in neonates NOT_TRANSLATED +HP:0005756 Speckled calcifications in bone end parts in neonates NOT_TRANSLATED +HP:0005759 Small and flat posterior fossa of skull NOT_TRANSLATED +HP:0005759 Small and flat posterior skull bones NOT_TRANSLATED +HP:0005766 Disproportionate shortening of the shankbone NOT_TRANSLATED +HP:0005766 Disproportionate shortening of the shinbone NOT_TRANSLATED +HP:0005766 Marked shortening of tibia NOT_TRANSLATED +HP:0005768 Soft tissue syndactyly of toes 2, 3, and 4 NOT_TRANSLATED +HP:0005768 Webbed 2nd, 3rd and 4th toes NOT_TRANSLATED +HP:0005768 Webbed second, third and fourth toes NOT_TRANSLATED +HP:0005769 Curvature of outermost bone of little finger NOT_TRANSLATED +HP:0005769 Curvature of outermost bone of pinkie finger NOT_TRANSLATED +HP:0005769 Curvature of outermost bone of pinky finger NOT_TRANSLATED +HP:0005772 Absent/hypoplastic tibia NOT_TRANSLATED +HP:0005772 Absent/small shankbone NOT_TRANSLATED +HP:0005772 Absent/small shinbone NOT_TRANSLATED +HP:0005772 Absent/underdeveloped shankbone NOT_TRANSLATED +HP:0005772 Absent/underdeveloped shinbone NOT_TRANSLATED +HP:0005772 Aplastic/hypoplastic tibia NOT_TRANSLATED +HP:0005780 No fourth finger distal interphalangeal crease NOT_TRANSLATED +HP:0005789 Diffuse, symmetrical osteosclerosis NOT_TRANSLATED +HP:0005789 Generalised osteosclerosis NOT_TRANSLATED +HP:0005789 Increased bone density in skeletal bones NOT_TRANSLATED +HP:0005789 Osteosclerosis, diffuse symmetrical NOT_TRANSLATED +HP:0005790 Bilateral hypoplasia of condylar process of mandible NOT_TRANSLATED +HP:0005790 Bilateral hypoplasia of mandibular condylar head NOT_TRANSLATED +HP:0005790 Bilateral hypoplasia of mandibular condylar neck NOT_TRANSLATED +HP:0005790 Decreased height of condylar process of mandible NOT_TRANSLATED +HP:0005790 Decreased length of condylar process of mandible NOT_TRANSLATED +HP:0005790 Short condylar head of mandible NOT_TRANSLATED +HP:0005790 Short condylar neck of mandible NOT_TRANSLATED +HP:0005790 Short condylar process of mandible NOT_TRANSLATED +HP:0005792 Humeral hypoplasia NOT_TRANSLATED +HP:0005792 Humeral shortening NOT_TRANSLATED +HP:0005792 Hypoplastic humerus NOT_TRANSLATED +HP:0005792 Short humeri NOT_TRANSLATED +HP:0005792 Short long bone of upper arm NOT_TRANSLATED +HP:0005792 Short upper arms NOT_TRANSLATED +HP:0005793 Shortening of all outermost bone of the toes NOT_TRANSLATED +HP:0005807 Absent outermost digital bones NOT_TRANSLATED +HP:0005815 Extra ribs NOT_TRANSLATED +HP:0005819 Brachymesophalangy NOT_TRANSLATED +HP:0005819 Disproportionately short middle phalanges NOT_TRANSLATED +HP:0005819 Hypoplasia of the middle phalanges of the hand NOT_TRANSLATED +HP:0005819 Hypoplastic middle phalanges NOT_TRANSLATED +HP:0005819 Hypoplastic middle phalanx NOT_TRANSLATED +HP:0005819 Midphalangeal hypoplasia NOT_TRANSLATED +HP:0005819 Short middle bone of finger NOT_TRANSLATED +HP:0005819 Short middle phalanges NOT_TRANSLATED +HP:0005819 Shortened middle finger bones NOT_TRANSLATED +HP:0005824 Clinodactyly of second toes NOT_TRANSLATED +HP:0005824 Curvature of 2nd toe NOT_TRANSLATED +HP:0005830 Contractures involving the toes NOT_TRANSLATED +HP:0005830 Contractures of the toes NOT_TRANSLATED +HP:0005830 Toe contractures NOT_TRANSLATED +HP:0005844 Rounded middle bone of finger NOT_TRANSLATED +HP:0005855 Congenital bone fractures NOT_TRANSLATED +HP:0005855 Multiple fractures present at birth NOT_TRANSLATED +HP:0005855 Multiple fractures, present at birth NOT_TRANSLATED +HP:0005855 Numerous multiple fractures present at birth NOT_TRANSLATED +HP:0005855 Numerous multiple fractures that are present at birth NOT_TRANSLATED +HP:0005856 Ulnar dislocation of radial heads NOT_TRANSLATED +HP:0005864 Pseudoarthroses NOT_TRANSLATED +HP:0005867 Fused 4th-5th long bones of hand NOT_TRANSLATED +HP:0005867 Fused 4th-5th metacarpals NOT_TRANSLATED +HP:0005867 Fused fourth and fifth metacarpals NOT_TRANSLATED +HP:0005867 Ring finger and little finger metacarpal synostosis NOT_TRANSLATED +HP:0005867 Synostosis of the fourth and fifth metacarpal bones NOT_TRANSLATED +HP:0005872 Progressive brachydactyly of middle and distal phalanges NOT_TRANSLATED +HP:0005872 Short middle and distal phalanges of digits ii through v NOT_TRANSLATED +HP:0005873 Polysyndactyly of big toe NOT_TRANSLATED +HP:0005873 Polysyndactyly of great toe NOT_TRANSLATED +HP:0005876 Joint contractures, progressive NOT_TRANSLATED +HP:0005879 Congenital finger contractures NOT_TRANSLATED +HP:0005880 Fused long bone of hand with innermost finger bone NOT_TRANSLATED +HP:0005890 Enlargement of the inner surface of the skull bones NOT_TRANSLATED +HP:0005890 Excessive growth of inner surface of the skull bones NOT_TRANSLATED +HP:0005890 Hyperostosis of the internal surface of the cranial bone NOT_TRANSLATED +HP:0005890 Hyperostosis of the internal surface of the cranial bones NOT_TRANSLATED +HP:0005890 Hypertrophy of the internal surface of the cranial bones NOT_TRANSLATED +HP:0005890 Increased ossification of the internal surface of the cranial bones NOT_TRANSLATED +HP:0005890 Overgrowth of the inner surface of the skull bones NOT_TRANSLATED +HP:0005890 Overgrowth of the inside of the skull NOT_TRANSLATED +HP:0005890 Thick inner surface of the skull bones NOT_TRANSLATED +HP:0005890 Thick internal surface of the cranial bones NOT_TRANSLATED +HP:0005891 Progressive forearm curvature NOT_TRANSLATED +HP:0005892 Fusion of innermost shinbone and calf bone NOT_TRANSLATED +HP:0005894 Double 1st long bones of hand NOT_TRANSLATED +HP:0005897 Severe generalised osteoporosis NOT_TRANSLATED +HP:0005897 Severe, generalised osteoporosis NOT_TRANSLATED +HP:0005897 Severe, generalized osteoporosis NOT_TRANSLATED +HP:0005900 Fifth metacarpal notched on ulnar side NOT_TRANSLATED +HP:0005905 Abnormal neck curve NOT_TRANSLATED +HP:0005906 Mastoid processes poorly pneumatized NOT_TRANSLATED +HP:0005910 Rhomboid or triangular shaped fifth finger middle phalanx NOT_TRANSLATED +HP:0005912 Biliary duct atresia NOT_TRANSLATED +HP:0005913 Abnormality of end part of long bone of hand NOT_TRANSLATED +HP:0005913 Abnormality of metacarpal epiphyses NOT_TRANSLATED +HP:0005914 Absent or hypoplastic metacarpals NOT_TRANSLATED +HP:0005914 Absent/small long bones of hand NOT_TRANSLATED +HP:0005914 Absent/underdeveloped long bones of hand NOT_TRANSLATED +HP:0005914 Aplastic/hypoplastic metacarpals NOT_TRANSLATED +HP:0005914 Hypoplastic metacarpals NOT_TRANSLATED +HP:0005914 Hypoplastic/absent metacarpal bones NOT_TRANSLATED +HP:0005914 Hypoplastic/absent metacarpals NOT_TRANSLATED +HP:0005914 Metacarpal aplasia/hypoplasia NOT_TRANSLATED +HP:0005916 Abnormal shape of long bones of hand NOT_TRANSLATED +HP:0005916 Abnormal shape of metacarpal bones NOT_TRANSLATED +HP:0005917 Extra long bones of hand NOT_TRANSLATED +HP:0005918 Abnormal form of phalanges of the hand NOT_TRANSLATED +HP:0005918 Abnormality of phalanx of finger NOT_TRANSLATED +HP:0005918 Abnormality of the finger bones NOT_TRANSLATED +HP:0005918 Abnormality of the phalanges NOT_TRANSLATED +HP:0005918 Abnormality of the phalanges of the hand NOT_TRANSLATED +HP:0005922 Abnormal shape of hand NOT_TRANSLATED +HP:0005923 Abnormalities of the metaphyses of the hand NOT_TRANSLATED +HP:0005923 Abnormality of the wide portion of the hand bone NOT_TRANSLATED +HP:0005924 Abnormality of the end part of the hand bone NOT_TRANSLATED +HP:0005924 Abnormality of the end part of the hand bones NOT_TRANSLATED +HP:0005924 Abnormality of the epiphyses of the fingers NOT_TRANSLATED +HP:0005924 Abnormality of the epiphyses of the hand NOT_TRANSLATED +HP:0005924 Abnormality of the epiphyses of the phalanges of the hand NOT_TRANSLATED +HP:0005925 Abnormalities of shaft of long bone of the hand NOT_TRANSLATED +HP:0005925 Abnormalities of the diaphyses of the hand NOT_TRANSLATED +HP:0005926 Abnormality of hand cortical bone NOT_TRANSLATED +HP:0005926 Abnormality of the cortex of hand bones NOT_TRANSLATED +HP:0005927 Absent/small hand bones NOT_TRANSLATED +HP:0005927 Absent/underdeveloped hand bones NOT_TRANSLATED +HP:0005927 Hypoplasia/absence of hand bones NOT_TRANSLATED +HP:0005928 Bone fusion involving the calf bones NOT_TRANSLATED +HP:0005929 Bone fusion involving the shinbone NOT_TRANSLATED +HP:0005930 Abnormal shape of end part of bone NOT_TRANSLATED +HP:0005930 Abnormality of epiphysis morphology NOT_TRANSLATED +HP:0005930 Abnormality of the epiphyses NOT_TRANSLATED +HP:0005930 Anomaly of the epiphyses NOT_TRANSLATED +HP:0005930 Epiphyseal abnormality NOT_TRANSLATED +HP:0005942 Filling of the alveoli with alveolar macrophages NOT_TRANSLATED +HP:0005942 Filling of the alveoli with desquamated epithelial cells NOT_TRANSLATED +HP:0005942 Intra-alveolar accumulation of macrophages NOT_TRANSLATED +HP:0005943 Breathing cessation NOT_TRANSLATED +HP:0005944 Absent lungs NOT_TRANSLATED +HP:0005944 Bilateral pulmonary agenesis NOT_TRANSLATED +HP:0005947 Decreased sensitivity to hypoxaemia NOT_TRANSLATED +HP:0005948 Cystic lung disease NOT_TRANSLATED +HP:0005948 Multiple lung cysts NOT_TRANSLATED +HP:0005950 Laryngeal webs NOT_TRANSLATED +HP:0005950 Partial laryngeal atresia NOT_TRANSLATED +HP:0005954 Pulmonary hemangiomas NOT_TRANSLATED +HP:0005959 Gluconeogenesis impaired NOT_TRANSLATED +HP:0005961 Arginine deficiency NOT_TRANSLATED +HP:0005961 Low blood arginine levels NOT_TRANSLATED +HP:0005964 Intermittent abnormally low body temperature NOT_TRANSLATED +HP:0005968 Body temperature instability NOT_TRANSLATED +HP:0005973 Fructose malabsorption NOT_TRANSLATED +HP:0005974 Ketoacidosis, episodic NOT_TRANSLATED +HP:0005978 Diabetes mellitus Type II NOT_TRANSLATED +HP:0005978 Diabetes mellitus type 2 NOT_TRANSLATED +HP:0005978 Diabetes mellitus, noninsulin-dependent NOT_TRANSLATED +HP:0005978 NIDDM NOT_TRANSLATED +HP:0005978 NIDDM diabetes mellitus NOT_TRANSLATED +HP:0005978 Non-insulin dependent diabetes NOT_TRANSLATED +HP:0005978 Noninsulin dependent diabetes mellitus NOT_TRANSLATED +HP:0005978 Noninsulin-dependent diabetes NOT_TRANSLATED +HP:0005978 Noninsulin-dependent diabetes mellitus NOT_TRANSLATED +HP:0005978 Type 2 diabetes NOT_TRANSLATED +HP:0005978 Type II diabetes NOT_TRANSLATED +HP:0005979 Starvation ketoacidosis NOT_TRANSLATED +HP:0005982 Phenylalanine hydroxylase deficiency NOT_TRANSLATED +HP:0005986 Limited neck mobility NOT_TRANSLATED +HP:0005986 Restricted neck movement NOT_TRANSLATED +HP:0005987 Multinodular goitre NOT_TRANSLATED +HP:0005988 Torticollis, congenital NOT_TRANSLATED +HP:0005989 Excess neck skin NOT_TRANSLATED +HP:0005989 Excess skin over the neck NOT_TRANSLATED +HP:0005989 Excessive nuchal skin NOT_TRANSLATED +HP:0005989 Redundant nuchal skin NOT_TRANSLATED +HP:0005989 Redundant skin folds of neck NOT_TRANSLATED +HP:0005989 Redundant skin over the neck NOT_TRANSLATED +HP:0005990 Hypoplastic thyroid NOT_TRANSLATED +HP:0005990 Small thyroid gland NOT_TRANSLATED +HP:0005991 Limited cervical flexion NOT_TRANSLATED +HP:0005991 Limited neck flexibility NOT_TRANSLATED +HP:0005994 Nodular goitre NOT_TRANSLATED +HP:0005995 Loss of adipose tissue around the neck NOT_TRANSLATED +HP:0005995 Loss of fat around neck NOT_TRANSLATED +HP:0005997 Restricted neck mobility due to contractures NOT_TRANSLATED +HP:0005997 Restricted neck movement due to contractures NOT_TRANSLATED +HP:0006006 Degeneration of small hand muscles NOT_TRANSLATED +HP:0006008 Short digits on one side NOT_TRANSLATED +HP:0006009 Broad phalanges NOT_TRANSLATED +HP:0006009 Wide digital bones NOT_TRANSLATED +HP:0006009 Wide phalanges NOT_TRANSLATED +HP:0006009 Widened phalanges NOT_TRANSLATED +HP:0006011 Short, cube shaped long bone of hand NOT_TRANSLATED +HP:0006012 Broad shaft of long bone of hand NOT_TRANSLATED +HP:0006014 Abnormally shaped wrist bones NOT_TRANSLATED +HP:0006016 Delayed bone maturation of end part of digital bone NOT_TRANSLATED +HP:0006016 Delayed phalangeal epiphyseal bone maturation NOT_TRANSLATED +HP:0006019 Decreased space in hinge joint NOT_TRANSLATED +HP:0006026 Rounded end part of bone NOT_TRANSLATED +HP:0006028 Cupping of wide portion of long bone of hand NOT_TRANSLATED +HP:0006028 Metacarpal/metaphyseal cupping NOT_TRANSLATED +HP:0006035 Cone-shaped end part of digital bones 2 to 5 NOT_TRANSLATED +HP:0006040 Long 2nd long bone of hand NOT_TRANSLATED +HP:0006042 Y-shaped long bone of hand NOT_TRANSLATED +HP:0006045 Short pointed digital bones NOT_TRANSLATED +HP:0006048 Wide outermost end of long bone NOT_TRANSLATED +HP:0006059 Cone-shaped end part of long bone NOT_TRANSLATED +HP:0006059 Metacarpal cone-shaped epiphyses NOT_TRANSLATED +HP:0006060 Tombstone-shaped innermost digital bones NOT_TRANSLATED +HP:0006064 Limited movement of hinge joints NOT_TRANSLATED +HP:0006067 Multiple carpal ossification centres NOT_TRANSLATED +HP:0006070 Metacarpal/phalangeal joint contractures NOT_TRANSLATED +HP:0006089 Excessive sweating of hands NOT_TRANSLATED +HP:0006092 Incorrect alignment of wrist bone NOT_TRANSLATED +HP:0006094 Increased mobility in finger joint NOT_TRANSLATED +HP:0006095 Wide tips of outermost digital bone NOT_TRANSLATED +HP:0006097 Partial or complete syndactyly 3rd-4th fingers NOT_TRANSLATED +HP:0006097 Webbed 3rd-4th finger NOT_TRANSLATED +HP:0006097 Webbed 3rd-4th fingers NOT_TRANSLATED +HP:0006101 Partial syndactyly NOT_TRANSLATED +HP:0006107 Finger pad telangiectases NOT_TRANSLATED +HP:0006107 Small dilated blood vessels in fingerpads NOT_TRANSLATED +HP:0006108 Tapered long bones of hand NOT_TRANSLATED +HP:0006109 Absent interphalangeal creases NOT_TRANSLATED +HP:0006109 Aplasia of the interphalangeal creases NOT_TRANSLATED +HP:0006114 Multiple palm lines NOT_TRANSLATED +HP:0006118 Brachytelephalangy NOT_TRANSLATED +HP:0006118 Shortening of all outermost bones of the fingers NOT_TRANSLATED +HP:0006119 Pointed innermost long bone of hand NOT_TRANSLATED +HP:0006119 Pointed proximal metacarpals NOT_TRANSLATED +HP:0006127 Long innermost finger bone NOT_TRANSLATED +HP:0006129 Drumstick shaped digital bones NOT_TRANSLATED +HP:0006134 Enlarged end part of long bone of hand NOT_TRANSLATED +HP:0006135 Decreased finger movement NOT_TRANSLATED +HP:0006140 Premature fusion of end part of digital bone NOT_TRANSLATED +HP:0006144 Shortening of all innermost bones of the fingers NOT_TRANSLATED +HP:0006145 Y-shaped central long bones of hand NOT_TRANSLATED +HP:0006146 Broad end part of long bone of hand NOT_TRANSLATED +HP:0006152 Fused innermost hinge joints NOT_TRANSLATED +HP:0006152 Proximal interphalangeal joint synostoses NOT_TRANSLATED +HP:0006153 Disharmonious wrist bone NOT_TRANSLATED +HP:0006155 Long finger bone NOT_TRANSLATED +HP:0006156 Curved thumb deviated towards palm NOT_TRANSLATED +HP:0006156 Ulnar deviation of the 1st finger NOT_TRANSLATED +HP:0006157 Prominent life line NOT_TRANSLATED +HP:0006159 Central hand polydactyly NOT_TRANSLATED +HP:0006159 Interdigital finger polydactyly NOT_TRANSLATED +HP:0006160 Irregular long bones of hand NOT_TRANSLATED +HP:0006161 Short long bone of hand with rounded innermost ends NOT_TRANSLATED +HP:0006162 Soft tissue swelling of hinge joints NOT_TRANSLATED +HP:0006166 Cylindrical shaped long bones of hand NOT_TRANSLATED +HP:0006167 Prominent innermost hinge joints NOT_TRANSLATED +HP:0006170 Chess-pawn shaped outermost bone NOT_TRANSLATED +HP:0006172 Flattened, squared-off end part of tubular bones NOT_TRANSLATED +HP:0006175 Thickening of connective tissue of innermost finger bone NOT_TRANSLATED +HP:0006176 Two carpal ossification centres present at birth NOT_TRANSLATED +HP:0006179 Extra bone on end of second long bone of hand NOT_TRANSLATED +HP:0006179 Pseudoepiphysis of the 2nd metacarpal NOT_TRANSLATED +HP:0006180 Crowded wrist bones NOT_TRANSLATED +HP:0006184 Hypoplastic palmar creases NOT_TRANSLATED +HP:0006184 Poorly formed palmar creases NOT_TRANSLATED +HP:0006184 Shallow palm line NOT_TRANSLATED +HP:0006184 Shallow palmar creases NOT_TRANSLATED +HP:0006185 Enlarged innermost hinge joint NOT_TRANSLATED +HP:0006191 Deep palm line NOT_TRANSLATED +HP:0006191 Deep palmar creases NOT_TRANSLATED +HP:0006192 Tapered finger bone NOT_TRANSLATED +HP:0006193 Thimble-shaped middle bones of hand NOT_TRANSLATED +HP:0006200 Widened outermost bone of limb NOT_TRANSLATED +HP:0006201 Increased mobility of outermost hinge joint NOT_TRANSLATED +HP:0006203 Decreased range of movement range in hinge joints NOT_TRANSLATED +HP:0006205 Irregular finger bones NOT_TRANSLATED +HP:0006209 Partial-complete absence of 5th digital bone NOT_TRANSLATED +HP:0006213 Thin innermost bone with broad end part of the hand bone NOT_TRANSLATED +HP:0006213 Thin proximal phalanges with broad epiphyses NOT_TRANSLATED +HP:0006216 Fifth finger single interphalangeal crease NOT_TRANSLATED +HP:0006217 Limited mobility of innermost hinge joint NOT_TRANSLATED +HP:0006234 Tarsal bone osteolysis NOT_TRANSLATED +HP:0006234 Tarsal osteolysis NOT_TRANSLATED +HP:0006236 Slender long bones of hand NOT_TRANSLATED +HP:0006237 Prominent hinge joints NOT_TRANSLATED +HP:0006239 Brachymesophalangy of feet NOT_TRANSLATED +HP:0006239 Shortening of all the middle bones of the toes NOT_TRANSLATED +HP:0006247 Enlarged hinge joints NOT_TRANSLATED +HP:0006248 Limited movement of the wrist NOT_TRANSLATED +HP:0006253 Swelling of innermost hinge joints NOT_TRANSLATED +HP:0006254 Alpha fetoprotein abnormal NOT_TRANSLATED +HP:0006254 Increased levels of alpha fetoprotein NOT_TRANSLATED +HP:0006254 Increased serum alpha-fetoprotein NOT_TRANSLATED +HP:0006254 Serum alpha-fetoprotein increased NOT_TRANSLATED +HP:0006257 Abnormal wrist bone maturation NOT_TRANSLATED +HP:0006261 Abnormality of phalangeal joints of the hand NOT_TRANSLATED +HP:0006261 Abnormality of the small joints of the hand NOT_TRANSLATED +HP:0006262 Absent/small little finger NOT_TRANSLATED +HP:0006262 Absent/small pinkie finger NOT_TRANSLATED +HP:0006262 Absent/small pinky finger NOT_TRANSLATED +HP:0006262 Absent/underdeveloped little finger NOT_TRANSLATED +HP:0006262 Absent/underdeveloped pinkie finger NOT_TRANSLATED +HP:0006262 Absent/underdeveloped pinky finger NOT_TRANSLATED +HP:0006263 Abnormality of the end part of the index finger bone NOT_TRANSLATED +HP:0006264 Absent/small index finger NOT_TRANSLATED +HP:0006264 Absent/underdeveloped index finger NOT_TRANSLATED +HP:0006265 Absent/small fingers NOT_TRANSLATED +HP:0006265 Absent/underdeveloped fingers NOT_TRANSLATED +HP:0006267 Placental enlargement NOT_TRANSLATED +HP:0006270 Underdeveloped spleen NOT_TRANSLATED +HP:0006278 Abnormal pancreas location NOT_TRANSLATED +HP:0006280 Chronic pancreas inflammation NOT_TRANSLATED +HP:0006282 Generalised dysplasia of tooth enamel NOT_TRANSLATED +HP:0006282 Generalised hypoplasia of dental enamel NOT_TRANSLATED +HP:0006282 Generalised hypoplasia of tooth enamel NOT_TRANSLATED +HP:0006282 Generalized dysplasia of tooth enamel NOT_TRANSLATED +HP:0006282 Generalized hypoplasia of tooth enamel NOT_TRANSLATED +HP:0006283 Failure of eruption of multiple teeth NOT_TRANSLATED +HP:0006283 Multiple non-erupting teeth NOT_TRANSLATED +HP:0006285 Decreased enamel mineralisation NOT_TRANSLATED +HP:0006285 Fluorosis of tooth enamel NOT_TRANSLATED +HP:0006285 Hypomineralization of enamel NOT_TRANSLATED +HP:0006285 Increased porosity of tooth enamel NOT_TRANSLATED +HP:0006285 Mottled tooth enamel NOT_TRANSLATED +HP:0006285 Poorly mineralized tooth enamel NOT_TRANSLATED +HP:0006285 White spot lesions of tooth enamel NOT_TRANSLATED +HP:0006286 Yellow-brown discolored teeth NOT_TRANSLATED +HP:0006286 Yellow-brown discoloured teeth NOT_TRANSLATED +HP:0006286 Yellow-brown tooth shade NOT_TRANSLATED +HP:0006288 Advanced dental eruption NOT_TRANSLATED +HP:0006288 Advanced tooth eruption NOT_TRANSLATED +HP:0006288 Early dental eruption NOT_TRANSLATED +HP:0006288 Early eruption of teeth NOT_TRANSLATED +HP:0006288 Eruption, advanced NOT_TRANSLATED +HP:0006288 Premature dental eruption NOT_TRANSLATED +HP:0006288 Premature eruption of teeth NOT_TRANSLATED +HP:0006288 Premature tooth eruption NOT_TRANSLATED +HP:0006289 Absent central incisor NOT_TRANSLATED +HP:0006289 Absent central incisors NOT_TRANSLATED +HP:0006289 Failure of development of central incisor NOT_TRANSLATED +HP:0006289 Missing central incisors NOT_TRANSLATED +HP:0006290 Abnormality of color of front teeth NOT_TRANSLATED +HP:0006290 Abnormality of color of lateral incisor NOT_TRANSLATED +HP:0006290 Abnormality of colour of front teeth NOT_TRANSLATED +HP:0006290 Abnormality of colour of lateral incisor NOT_TRANSLATED +HP:0006290 Abnormality of shade of lateral incisor NOT_TRANSLATED +HP:0006290 Discolored front teeth NOT_TRANSLATED +HP:0006290 Discoloured front teeth NOT_TRANSLATED +HP:0006290 Discoloured lateral incisors NOT_TRANSLATED +HP:0006291 Severe delay of eruption of adult teeth NOT_TRANSLATED +HP:0006291 Severe delay of eruption of permanent teeth NOT_TRANSLATED +HP:0006291 Very late eruption of adult teeth NOT_TRANSLATED +HP:0006291 Very late eruption of permanent teeth NOT_TRANSLATED +HP:0006292 Abnormal dental eruption NOT_TRANSLATED +HP:0006292 Abnormality of tooth eruption NOT_TRANSLATED +HP:0006292 Anomaly of dental eruption NOT_TRANSLATED +HP:0006292 Anomaly of tooth eruption NOT_TRANSLATED +HP:0006292 Disorder of dental eruption NOT_TRANSLATED +HP:0006292 Disorder of tooth eruption NOT_TRANSLATED +HP:0006292 Disturbance of dental eruption NOT_TRANSLATED +HP:0006292 Disturbance of tooth eruption NOT_TRANSLATED +HP:0006293 Absence of maxillary central incisor NOT_TRANSLATED +HP:0006293 Failure of development of maxillary central incisor NOT_TRANSLATED +HP:0006293 Missing maxillary central incisor NOT_TRANSLATED +HP:0006293 Missing upper central incisor NOT_TRANSLATED +HP:0006297 Defective enamel matrix NOT_TRANSLATED +HP:0006297 Dental enamel hypoplasia NOT_TRANSLATED +HP:0006297 Dysplasia of tooth enamel NOT_TRANSLATED +HP:0006297 Enamel dysplasia NOT_TRANSLATED +HP:0006297 Enamel hypotrophy NOT_TRANSLATED +HP:0006297 Enamel, underdeveloped NOT_TRANSLATED +HP:0006297 Hypoplasia of dental enamel NOT_TRANSLATED +HP:0006297 Hypoplasia of tooth enamel NOT_TRANSLATED +HP:0006297 Thin dental enamel NOT_TRANSLATED +HP:0006297 Thin tooth enamel NOT_TRANSLATED +HP:0006297 Underdeveloped teeth enamel NOT_TRANSLATED +HP:0006302 Dagger shaped pulp denticles NOT_TRANSLATED +HP:0006302 Dagger shaped pulp stones NOT_TRANSLATED +HP:0006304 Anterior diastema of teeth NOT_TRANSLATED +HP:0006304 Diastema between front teeth NOT_TRANSLATED +HP:0006304 Diastema between incisors NOT_TRANSLATED +HP:0006304 Gap between front teeth NOT_TRANSLATED +HP:0006304 Widely spaced front teeth NOT_TRANSLATED +HP:0006308 Alveolar bone loss NOT_TRANSLATED +HP:0006308 Atrophy of alveolar margins NOT_TRANSLATED +HP:0006308 Atrophy of alveolar processes of jaw NOT_TRANSLATED +HP:0006308 Flattening of alveolar margin NOT_TRANSLATED +HP:0006308 Flattening of alveolar processes of jaw NOT_TRANSLATED +HP:0006308 Flattening of alveolar ridges NOT_TRANSLATED +HP:0006308 Flattening of gum ridges NOT_TRANSLATED +HP:0006308 Resorption of alveolar margins NOT_TRANSLATED +HP:0006308 Resorption of alveolar processes of jaw NOT_TRANSLATED +HP:0006308 Resorption of alveolar ridges NOT_TRANSLATED +HP:0006308 Shrinking of alveolar ridges NOT_TRANSLATED +HP:0006308 Shrinking of gum ridges NOT_TRANSLATED +HP:0006311 Decreased size of all teeth NOT_TRANSLATED +HP:0006311 Decreased tooth mass NOT_TRANSLATED +HP:0006311 Decreased width of all teeth NOT_TRANSLATED +HP:0006311 Generalised microdontia NOT_TRANSLATED +HP:0006311 Hypotrophy of all teeth NOT_TRANSLATED +HP:0006311 Tooth mass insufficiency NOT_TRANSLATED +HP:0006313 Generalised spacing of primary teeth NOT_TRANSLATED +HP:0006313 Generalized spacing of primary teeth NOT_TRANSLATED +HP:0006313 Wide gaps between baby teeth NOT_TRANSLATED +HP:0006313 Wide gaps between primary teeth NOT_TRANSLATED +HP:0006313 Widely spaced baby teeth NOT_TRANSLATED +HP:0006313 Widely spaced deciduous teeth NOT_TRANSLATED +HP:0006313 Widely spaced milk teeth NOT_TRANSLATED +HP:0006315 Only one upper front tooth NOT_TRANSLATED +HP:0006315 Single central incisor NOT_TRANSLATED +HP:0006315 Single central upper incisor NOT_TRANSLATED +HP:0006315 Single maxillary central incisor NOT_TRANSLATED +HP:0006315 Single median incisor NOT_TRANSLATED +HP:0006315 Single median maxillary incisor NOT_TRANSLATED +HP:0006315 Single midline maxillary incisor NOT_TRANSLATED +HP:0006315 Single midline upper front tooth NOT_TRANSLATED +HP:0006315 Solitary median maxillary central incisor syndrome NOT_TRANSLATED +HP:0006315 Solitary midline maxillary central incisor NOT_TRANSLATED +HP:0006316 Irregular dental spacing NOT_TRANSLATED +HP:0006316 Variability of dental spacing NOT_TRANSLATED +HP:0006316 Variability of spacing between teeth NOT_TRANSLATED +HP:0006321 Failure of eruption of multiple adult teeth NOT_TRANSLATED +HP:0006321 Failure of eruption of multiple permanent teeth NOT_TRANSLATED +HP:0006321 Multiple non-erupting adult teeth NOT_TRANSLATED +HP:0006321 Multiple non-erupting permanent teeth NOT_TRANSLATED +HP:0006321 Multiple unerupted adult teeth NOT_TRANSLATED +HP:0006321 Multiple unerupted permanent teeth NOT_TRANSLATED +HP:0006323 Early loss of baby teeth NOT_TRANSLATED +HP:0006323 Early loss of deciduous teeth NOT_TRANSLATED +HP:0006323 Early loss of primary teeth NOT_TRANSLATED +HP:0006323 Premature deciduous tooth loss NOT_TRANSLATED +HP:0006323 Premature exfoliation of deciduous teeth NOT_TRANSLATED +HP:0006323 Premature exfoliation of primary teeth NOT_TRANSLATED +HP:0006323 Premature loss of baby teeth NOT_TRANSLATED +HP:0006323 Premature loss of deciduous teeth NOT_TRANSLATED +HP:0006326 Failure of dental eruption due to mucopolysaccharidoses NOT_TRANSLATED +HP:0006326 Failure of tooth eruption due to mucopolysaccharidoses NOT_TRANSLATED +HP:0006326 Impacted teeth due to mucopolysaccharidoses NOT_TRANSLATED +HP:0006326 Unerupted dentition due to mucopolysaccharidoses NOT_TRANSLATED +HP:0006326 Unerupted teeth due to mucopolysaccharidoses NOT_TRANSLATED +HP:0006329 Decreased size of alveolar process of jaw NOT_TRANSLATED +HP:0006329 Decreased size of alveolar ridge NOT_TRANSLATED +HP:0006329 Deficiency of alveolar process of jaw NOT_TRANSLATED +HP:0006329 Deficiency of alveolar ridge NOT_TRANSLATED +HP:0006329 Hypoplasia of alveolar ridge NOT_TRANSLATED +HP:0006329 Hypoplastic alveolar bone NOT_TRANSLATED +HP:0006329 Hypotrophic alveolar process of jaw NOT_TRANSLATED +HP:0006329 Hypotrophic alveolar ridge NOT_TRANSLATED +HP:0006329 Small alveolar process of jaw NOT_TRANSLATED +HP:0006329 Small alveolar ridge NOT_TRANSLATED +HP:0006329 Underdevelopment of alveolar process of jaw NOT_TRANSLATED +HP:0006329 Underdevelopment of alveolar ridge NOT_TRANSLATED +HP:0006330 Rotated upper central incisors NOT_TRANSLATED +HP:0006330 Rotated upper front teeth NOT_TRANSLATED +HP:0006330 Turned upper front teeth NOT_TRANSLATED +HP:0006330 Twisted upper front teeth NOT_TRANSLATED +HP:0006332 Extra upper front tooth NOT_TRANSLATED +HP:0006333 Crowded upper front teeth NOT_TRANSLATED +HP:0006333 Crowded upper incisors NOT_TRANSLATED +HP:0006333 Overlapped maxillary incisors NOT_TRANSLATED +HP:0006333 Overlapped upper front teeth NOT_TRANSLATED +HP:0006334 Decreased size of baby teeth NOT_TRANSLATED +HP:0006334 Decreased size of deciduous teeth NOT_TRANSLATED +HP:0006334 Decreased size of milk teeth NOT_TRANSLATED +HP:0006334 Decreased size of primary teeth NOT_TRANSLATED +HP:0006334 Hypoplastic deciduous teeth NOT_TRANSLATED +HP:0006334 Small baby teeth NOT_TRANSLATED +HP:0006334 Small milk teeth NOT_TRANSLATED +HP:0006334 Small primary teeth NOT_TRANSLATED +HP:0006334 Underdevelopment of baby teeth NOT_TRANSLATED +HP:0006334 Underdevelopment of milk teeth NOT_TRANSLATED +HP:0006334 Underdevelopment of primary teeth NOT_TRANSLATED +HP:0006335 Deciduous teeth retention NOT_TRANSLATED +HP:0006335 Delayed loss of baby teeth NOT_TRANSLATED +HP:0006335 Delayed loss of deciduous teeth NOT_TRANSLATED +HP:0006335 Delayed loss of primary teeth NOT_TRANSLATED +HP:0006335 Failure to exfoliate deciduous teeth NOT_TRANSLATED +HP:0006335 Failure to exfoliate primary teeth NOT_TRANSLATED +HP:0006335 Failure to lose baby teeth NOT_TRANSLATED +HP:0006335 Persistence of deciduous teeth NOT_TRANSLATED +HP:0006335 Persistent deciduous dentition NOT_TRANSLATED +HP:0006335 Persistent primary dentition NOT_TRANSLATED +HP:0006335 Persistent primary teeth NOT_TRANSLATED +HP:0006335 Retained baby teeth NOT_TRANSLATED +HP:0006335 Retained deciduous teeth NOT_TRANSLATED +HP:0006335 Retained primary teeth NOT_TRANSLATED +HP:0006336 Decreased length of dental roots NOT_TRANSLATED +HP:0006336 Decreased length of tooth roots NOT_TRANSLATED +HP:0006336 Dental root hypoplasia NOT_TRANSLATED +HP:0006336 Dental root hypotrophy NOT_TRANSLATED +HP:0006336 Rhizomicry NOT_TRANSLATED +HP:0006336 Root dwarfism NOT_TRANSLATED +HP:0006336 Short dental roots NOT_TRANSLATED +HP:0006336 Short tooth roots NOT_TRANSLATED +HP:0006336 Underdeveloped dental roots NOT_TRANSLATED +HP:0006336 Underdeveloped tooth roots NOT_TRANSLATED +HP:0006337 Early eruption of adult teeth NOT_TRANSLATED +HP:0006337 Early eruption of permanent teeth NOT_TRANSLATED +HP:0006337 Precocious eruption of secondary dentition NOT_TRANSLATED +HP:0006337 Precocious eruption of secondary teeth NOT_TRANSLATED +HP:0006337 Premature eruption of adult teeth NOT_TRANSLATED +HP:0006338 Malformation of lower premolar NOT_TRANSLATED +HP:0006338 Malformation of mandibular bicuspid NOT_TRANSLATED +HP:0006339 Cone shaped lower front tooth NOT_TRANSLATED +HP:0006339 Conoid mandibular incisor NOT_TRANSLATED +HP:0006339 Lower front shark tooth NOT_TRANSLATED +HP:0006339 Peg shaped lower front tooth NOT_TRANSLATED +HP:0006339 Peg shaped mandibular incisor NOT_TRANSLATED +HP:0006339 Pointed mandibular incisor NOT_TRANSLATED +HP:0006339 Pointed mandibular incisors NOT_TRANSLATED +HP:0006342 Cone shaped upper lateral incisors NOT_TRANSLATED +HP:0006342 Conical maxillary lateral incisors NOT_TRANSLATED +HP:0006342 Conoid upper lateral incisors NOT_TRANSLATED +HP:0006342 Peg laterals NOT_TRANSLATED +HP:0006342 Peg shaped upper lateral incisors NOT_TRANSLATED +HP:0006342 Peg-shaped tooth NOT_TRANSLATED +HP:0006342 Pointed upper lateral incisors NOT_TRANSLATED +HP:0006344 Abnormality of deciduous molar morphology NOT_TRANSLATED +HP:0006344 Abnormality of shape of baby molar NOT_TRANSLATED +HP:0006344 Abnormality of shape of primary molar NOT_TRANSLATED +HP:0006346 Screwdriver shaped front teeth NOT_TRANSLATED +HP:0006347 Decreased size of primary tooth NOT_TRANSLATED +HP:0006347 Decreased width of baby teeth NOT_TRANSLATED +HP:0006347 Decreased width of deciduous teeth NOT_TRANSLATED +HP:0006347 Decreased width of milk teeth NOT_TRANSLATED +HP:0006347 Decreased width of primary tooth NOT_TRANSLATED +HP:0006347 Microdontia of deciduous teeth NOT_TRANSLATED +HP:0006347 Small deciduous teeth NOT_TRANSLATED +HP:0006349 Absence of permanent teeth NOT_TRANSLATED +HP:0006349 Absent permanent teeth NOT_TRANSLATED +HP:0006349 Agenesis of permanent dentition NOT_TRANSLATED +HP:0006349 Agenesis of secondary dentition NOT_TRANSLATED +HP:0006349 Failure of development of permanent teeth NOT_TRANSLATED +HP:0006349 Failure of development of secondary teeth NOT_TRANSLATED +HP:0006349 Missing teeth NOT_TRANSLATED +HP:0006350 Crescent/chevron-shaped pulp chambers NOT_TRANSLATED +HP:0006350 Narrowing of pulp chamber of tooth NOT_TRANSLATED +HP:0006350 Obliteration of the pulp chamber NOT_TRANSLATED +HP:0006350 Pulp canal obliteration NOT_TRANSLATED +HP:0006350 Reduced size of pulp chamber of tooth NOT_TRANSLATED +HP:0006350 Small pulp chamber of tooth NOT_TRANSLATED +HP:0006352 Failure of eruption of adult teeth NOT_TRANSLATED +HP:0006352 Unerupted adult dentition NOT_TRANSLATED +HP:0006352 Unerupted adult teeth NOT_TRANSLATED +HP:0006352 Unerupted permanent dentition NOT_TRANSLATED +HP:0006352 Unerupted permanent teeth NOT_TRANSLATED +HP:0006353 Decreased size of tooth bud NOT_TRANSLATED +HP:0006353 Decreased size of tooth germ NOT_TRANSLATED +HP:0006353 Hypoplastic tooth buds NOT_TRANSLATED +HP:0006353 Hypotrophic tooth germ NOT_TRANSLATED +HP:0006353 Small tooth bud NOT_TRANSLATED +HP:0006353 Small tooth germ NOT_TRANSLATED +HP:0006353 Underdevelopment of tooth bud NOT_TRANSLATED +HP:0006353 Underdevelopment of tooth germ NOT_TRANSLATED +HP:0006355 Absence of lower central incisor NOT_TRANSLATED +HP:0006355 Absence of mandibular central incisor NOT_TRANSLATED +HP:0006355 Failure of development of mandibular central incisor NOT_TRANSLATED +HP:0006355 Missing lower central incisor NOT_TRANSLATED +HP:0006355 Missing mandibular central incisor NOT_TRANSLATED +HP:0006357 Early loss of adult teeth NOT_TRANSLATED +HP:0006357 Early loss of permanent teeth NOT_TRANSLATED +HP:0006357 Early loss of secondary dentition NOT_TRANSLATED +HP:0006357 Premature loss of adult teeth NOT_TRANSLATED +HP:0006357 Premature loss of secondary teeth NOT_TRANSLATED +HP:0006358 Shovel tooth NOT_TRANSLATED +HP:0006358 Shovel-shaped upper front teeth NOT_TRANSLATED +HP:0006361 Irregular thighbone end part NOT_TRANSLATED +HP:0006369 Irregular patellar contour NOT_TRANSLATED +HP:0006369 Irregular patellar margins NOT_TRANSLATED +HP:0006370 Distal ulnar epiphyseal calcifications NOT_TRANSLATED +HP:0006371 Broad shaft of long bone NOT_TRANSLATED +HP:0006371 Wide shaft of long bone NOT_TRANSLATED +HP:0006375 Dumbbell-shaped thighbone NOT_TRANSLATED +HP:0006379 Proximal tibial hypopolasia NOT_TRANSLATED +HP:0006380 Contractures of knees NOT_TRANSLATED +HP:0006380 Contractures of the knees NOT_TRANSLATED +HP:0006380 Flexion contracture of knees NOT_TRANSLATED +HP:0006380 Flexion contractures at both knees NOT_TRANSLATED +HP:0006380 Flexion contractures of knees NOT_TRANSLATED +HP:0006380 Flexion deformity of the knee NOT_TRANSLATED +HP:0006380 Inability to straighten knee NOT_TRANSLATED +HP:0006380 Knee contracture NOT_TRANSLATED +HP:0006380 Knee contractures NOT_TRANSLATED +HP:0006380 Knee flexion contractures NOT_TRANSLATED +HP:0006380 Knee flexion deformity NOT_TRANSLATED +HP:0006381 Rudimentary to absent fibulae NOT_TRANSLATED +HP:0006381 Small to absent calf bone NOT_TRANSLATED +HP:0006381 Small to absent fibula NOT_TRANSLATED +HP:0006384 Club-shaped distal femora NOT_TRANSLATED +HP:0006384 Club-shaped outermost end of thighbone NOT_TRANSLATED +HP:0006385 Short legs NOT_TRANSLATED +HP:0006387 Broad outermost wide portion of thighbone NOT_TRANSLATED +HP:0006387 Wide distal metaphysis of femur NOT_TRANSLATED +HP:0006390 Anterior bowing of tibia NOT_TRANSLATED +HP:0006398 Flat end part of outermost thighbone NOT_TRANSLATED +HP:0006398 Flattened distal femoral epiphyses NOT_TRANSLATED +HP:0006400 Absent knee end part NOT_TRANSLATED +HP:0006402 Short outer part of limbs NOT_TRANSLATED +HP:0006406 Club-shaped innermost end of thighbone NOT_TRANSLATED +HP:0006407 Irregular outermost thighbone end part NOT_TRANSLATED +HP:0006408 Tapering of outermost end of thighbone NOT_TRANSLATED +HP:0006413 Broad wide portion of shankbone NOT_TRANSLATED +HP:0006413 Broad wide portion of shinbone NOT_TRANSLATED +HP:0006414 Bowing of the distal tibia NOT_TRANSLATED +HP:0006414 Tibial bowing at ankle NOT_TRANSLATED +HP:0006417 Broad wide portion of thigh bone NOT_TRANSLATED +HP:0006429 Broadening of femoral neck NOT_TRANSLATED +HP:0006429 Wide femoral neck NOT_TRANSLATED +HP:0006429 Wide neck of thigh bone NOT_TRANSLATED +HP:0006429 Widened femoral necks NOT_TRANSLATED +HP:0006431 Abnormal wide portion of innermost thighbone NOT_TRANSLATED +HP:0006433 Dysplastic radii NOT_TRANSLATED +HP:0006433 Radial longitudinal deficiency NOT_TRANSLATED +HP:0006434 Proximal radial shortening NOT_TRANSLATED +HP:0006438 Enlargement of the outermost thighbone end part NOT_TRANSLATED +HP:0006438 Large distal femoral epiphyses NOT_TRANSLATED +HP:0006439 Dislocated radioulnar joints NOT_TRANSLATED +HP:0006440 Increased density of shaft of long bone NOT_TRANSLATED +HP:0006442 Small innermost upper end of calf bone NOT_TRANSLATED +HP:0006442 Underdeveloped innermost upper end of calf bone NOT_TRANSLATED +HP:0006443 Absent kneecap NOT_TRANSLATED +HP:0006443 Absent patella NOT_TRANSLATED +HP:0006443 Absent patellae NOT_TRANSLATED +HP:0006443 Absent patellas NOT_TRANSLATED +HP:0006443 Aplastic patellae NOT_TRANSLATED +HP:0006453 Laterally displaced femoral heads NOT_TRANSLATED +HP:0006454 Delayed bone maturation of the knee cap NOT_TRANSLATED +HP:0006454 Delayed patellae ossification NOT_TRANSLATED +HP:0006456 Irregular innermost shankbone end part NOT_TRANSLATED +HP:0006456 Irregular innermost shinbone end part NOT_TRANSLATED +HP:0006461 Slipped capital femoral epiphyses NOT_TRANSLATED +HP:0006461 Slipped capital femoral epiphysis NOT_TRANSLATED +HP:0006461 Slipped end part of innermost thighbone NOT_TRANSLATED +HP:0006462 Generalised bone demineralization NOT_TRANSLATED +HP:0006466 Ankle contracture NOT_TRANSLATED +HP:0006466 Ankle contractures NOT_TRANSLATED +HP:0006466 Contractures of the ankles NOT_TRANSLATED +HP:0006470 Thin diaphyses of long bones NOT_TRANSLATED +HP:0006470 Thin shaft of long bone NOT_TRANSLATED +HP:0006477 Abnormality of alveolar margin NOT_TRANSLATED +HP:0006477 Abnormality of alveolar processes of jaw NOT_TRANSLATED +HP:0006477 Abnormality of dentoalveolar ridges NOT_TRANSLATED +HP:0006477 Abnormality of gum ridge NOT_TRANSLATED +HP:0006477 Defect in alveolar ridge NOT_TRANSLATED +HP:0006479 Abnormality of the dental pulp NOT_TRANSLATED +HP:0006479 Abnormality of tooth pulp NOT_TRANSLATED +HP:0006479 Endodontic abnormality NOT_TRANSLATED +HP:0006480 Early tooth loss NOT_TRANSLATED +HP:0006480 Loss of teeth NOT_TRANSLATED +HP:0006480 Premature exfoliation of teeth NOT_TRANSLATED +HP:0006480 Premature teeth loss NOT_TRANSLATED +HP:0006480 Premature tooth loss NOT_TRANSLATED +HP:0006481 Abnormality of baby teeth NOT_TRANSLATED +HP:0006481 Abnormality of deciduous teeth NOT_TRANSLATED +HP:0006481 Abnormality of milk teeth NOT_TRANSLATED +HP:0006482 Abnormality of dental shape NOT_TRANSLATED +HP:0006482 Abnormality of shape of tooth NOT_TRANSLATED +HP:0006482 Abnormally shaped teeth NOT_TRANSLATED +HP:0006482 Deformity of teeth NOT_TRANSLATED +HP:0006482 Dental deformity NOT_TRANSLATED +HP:0006482 Dental malformations NOT_TRANSLATED +HP:0006482 Malformation of teeth NOT_TRANSLATED +HP:0006482 Malformed teeth NOT_TRANSLATED +HP:0006482 Misshapen teeth NOT_TRANSLATED +HP:0006482 Misshapened teeth NOT_TRANSLATED +HP:0006483 Abnormal complement of teeth NOT_TRANSLATED +HP:0006483 Abnormal tooth count NOT_TRANSLATED +HP:0006485 Absence of front tooth NOT_TRANSLATED +HP:0006485 Absence of incisors NOT_TRANSLATED +HP:0006485 Failure of development of incisor NOT_TRANSLATED +HP:0006485 Missing front tooth NOT_TRANSLATED +HP:0006485 Missing incisors NOT_TRANSLATED +HP:0006486 Abnormality of the dental root NOT_TRANSLATED +HP:0006486 Abnormality of tooth root NOT_TRANSLATED +HP:0006486 Dental root anomaly NOT_TRANSLATED +HP:0006487 Bowed long bones NOT_TRANSLATED +HP:0006487 Bowing of long bones NOT_TRANSLATED +HP:0006487 Camptomelia NOT_TRANSLATED +HP:0006487 Diaphyseal bowing NOT_TRANSLATED +HP:0006487 Diaphyseal bowing of long bones NOT_TRANSLATED +HP:0006488 Bending of the arm NOT_TRANSLATED +HP:0006489 Abnormality of the femoral metaphysis NOT_TRANSLATED +HP:0006489 Abnormality of the wide portion of the femoral bone NOT_TRANSLATED +HP:0006490 Abnormality of lower-limb metaphyses NOT_TRANSLATED +HP:0006490 Abnormality of the wide portion of the lower-limb bone NOT_TRANSLATED +HP:0006491 Abnormality of the tibial metaphysis NOT_TRANSLATED +HP:0006491 Abnormality of the wide portion of shankbone NOT_TRANSLATED +HP:0006491 Abnormality of the wide portion of shinbone NOT_TRANSLATED +HP:0006492 Absent/small calf bone NOT_TRANSLATED +HP:0006492 Absent/underdeveloped calf bone NOT_TRANSLATED +HP:0006492 Fibular aplasia/hypoplasia NOT_TRANSLATED +HP:0006492 Hypoplastic/aplastic fibulae NOT_TRANSLATED +HP:0006493 Absent/small lower limb bones NOT_TRANSLATED +HP:0006493 Absent/underdeveloped lower limb bones NOT_TRANSLATED +HP:0006494 Absent/small foot bones NOT_TRANSLATED +HP:0006494 Absent/underdeveloped foot bones NOT_TRANSLATED +HP:0006495 Absence/underdevelopment of inner forearm bone NOT_TRANSLATED +HP:0006495 Absent-hypoplastic ulnae NOT_TRANSLATED +HP:0006495 Absent/small ulna NOT_TRANSLATED +HP:0006495 Hypoplasia or unilateral/bilateral absence of ulna NOT_TRANSLATED +HP:0006495 Ulnar hypoplasia/aplasia NOT_TRANSLATED +HP:0006496 Absent/small bones of the upper limbs NOT_TRANSLATED +HP:0006496 Absent/underdeveloped bones of the upper limbs NOT_TRANSLATED +HP:0006498 Absent or hypoplastic patellae NOT_TRANSLATED +HP:0006498 Absent/hypoplastic patella NOT_TRANSLATED +HP:0006498 Absent/small kneecap NOT_TRANSLATED +HP:0006498 Absent/underdeveloped kneecap NOT_TRANSLATED +HP:0006498 Aplastic or hypoplastic patellae NOT_TRANSLATED +HP:0006498 Hypoplastic or absent patella NOT_TRANSLATED +HP:0006498 Patellar aplasia/hypoplasia NOT_TRANSLATED +HP:0006498 Small to absent patellae NOT_TRANSLATED +HP:0006499 Abnormality of thighbone end part NOT_TRANSLATED +HP:0006500 Abnormal shape of end part of lower limb end bone NOT_TRANSLATED +HP:0006500 Abnormality involving the epiphyses of the lower limbs NOT_TRANSLATED +HP:0006501 Absence or underdevelopment of the radius bone of the arm NOT_TRANSLATED +HP:0006501 Absent/small radius NOT_TRANSLATED +HP:0006501 Absent/underdeveloped radius NOT_TRANSLATED +HP:0006501 Radial aplasia/hypoplasia NOT_TRANSLATED +HP:0006502 Absent/small wrist bones NOT_TRANSLATED +HP:0006502 Absent/underdeveloped wrist bones NOT_TRANSLATED +HP:0006503 Absent/small forearm bones NOT_TRANSLATED +HP:0006503 Absent/underdeveloped forearm bones NOT_TRANSLATED +HP:0006505 Abnormal shape of end part of limb bones NOT_TRANSLATED +HP:0006505 Abnormality involving the epiphyses of the limbs NOT_TRANSLATED +HP:0006505 Abnormality of limb epiphysis morphology NOT_TRANSLATED +HP:0006507 Absent/small long bone in upper arm NOT_TRANSLATED +HP:0006507 Absent/underdeveloped long bone in upper arm NOT_TRANSLATED +HP:0006508 Abnormality of end part of shinbone NOT_TRANSLATED +HP:0006509 Paratracheal air cyst NOT_TRANSLATED +HP:0006509 Tracheal diverticulosis NOT_TRANSLATED +HP:0006509 Tracheal diverticulum NOT_TRANSLATED +HP:0006509 Tracheocele NOT_TRANSLATED +HP:0006510 COPD NOT_TRANSLATED +HP:0006510 Chronic obstructive pulmonary disease NOT_TRANSLATED +HP:0006511 Laryngeal stidor NOT_TRANSLATED +HP:0006517 Alveolar proteinosis NOT_TRANSLATED +HP:0006517 Detection of PAS-positive extracellular material in broncho-alveolar lavage NOT_TRANSLATED +HP:0006517 Pulmonary alveolar proteinosis NOT_TRANSLATED +HP:0006518 Pulmonary venoocclusive disease NOT_TRANSLATED +HP:0006518 Pulmonary venous stenosis NOT_TRANSLATED +HP:0006521 Pulmonary lymphangiectasis NOT_TRANSLATED +HP:0006522 Repeated pneumothorax NOT_TRANSLATED +HP:0006527 Lymphocytic interstitial pneumonitis NOT_TRANSLATED +HP:0006527 Lymphoid interstitial pneumonia NOT_TRANSLATED +HP:0006527 Lymphoid interstitial pneumonitis NOT_TRANSLATED +HP:0006530 Abnormal lung parenchyma morphology NOT_TRANSLATED +HP:0006530 Abnormality in area between air sacs in lung NOT_TRANSLATED +HP:0006530 Interstitial lung disease NOT_TRANSLATED +HP:0006530 Interstitial pulmonary disease NOT_TRANSLATED +HP:0006532 Multiple pulmonary infections NOT_TRANSLATED +HP:0006532 Pneumonia, recurrent NOT_TRANSLATED +HP:0006532 Pneumonia, recurrent episodes NOT_TRANSLATED +HP:0006532 Pulmonary infection NOT_TRANSLATED +HP:0006532 Pulmonary infections NOT_TRANSLATED +HP:0006532 Recurrent pulmonary infections NOT_TRANSLATED +HP:0006532 pulmonary infections, recurrent NOT_TRANSLATED +HP:0006535 Recurrent bleeding into lungs NOT_TRANSLATED +HP:0006535 Recurrent intrapulmonary haemorrhage NOT_TRANSLATED +HP:0006535 Recurrent pulmonary haemorrhage NOT_TRANSLATED +HP:0006535 Recurrent pulmonary hemorrhage NOT_TRANSLATED +HP:0006536 Obstructive lung disease NOT_TRANSLATED +HP:0006536 Pulmonary obstruction NOT_TRANSLATED +HP:0006538 Recurrent infections in bronchi and lungs NOT_TRANSLATED +HP:0006539 Underdevelopment of the bronical cartilage NOT_TRANSLATED +HP:0006544 Diaphragmatic sequestrum NOT_TRANSLATED +HP:0006548 Pulmonary AV malformation NOT_TRANSLATED +HP:0006549 Primary pulmonary dysgenesis, unilateral NOT_TRANSLATED +HP:0006554 Acute liver failure NOT_TRANSLATED +HP:0006555 Hepatic steatosis, diffuse NOT_TRANSLATED +HP:0006559 Liver calcifications NOT_TRANSLATED +HP:0006560 Bile duct hyperplasia NOT_TRANSLATED +HP:0006568 Increased liver glycogen content NOT_TRANSLATED +HP:0006571 Hepatic ductopenia NOT_TRANSLATED +HP:0006571 Intrahepatic duct deficiency NOT_TRANSLATED +HP:0006573 Acute fatty liver NOT_TRANSLATED +HP:0006574 Liver arteriovenous malformation NOT_TRANSLATED +HP:0006576 Liver vascular malformations NOT_TRANSLATED +HP:0006579 Jaundice, neonatal NOT_TRANSLATED +HP:0006579 Neonatal jaundice NOT_TRANSLATED +HP:0006579 Prolonged yellowing of skin in newborn NOT_TRANSLATED +HP:0006580 Portal fibrosis shown on biopsy NOT_TRANSLATED +HP:0006584 Small abnormally formed scapula NOT_TRANSLATED +HP:0006584 Small abnormally formed shoulder blade NOT_TRANSLATED +HP:0006585 Bipartite clavicle NOT_TRANSLATED +HP:0006585 Clavicle pseudoarthrosis NOT_TRANSLATED +HP:0006585 Pseudoarthrosis of clavicle NOT_TRANSLATED +HP:0006587 Straight collarbone NOT_TRANSLATED +HP:0006590 Prematurely closed sternal sutures NOT_TRANSLATED +HP:0006591 Aplasia of the glenoid fossa NOT_TRANSLATED +HP:0006595 Fusion of shoulder blade to long bone in upper arm NOT_TRANSLATED +HP:0006595 Humero-scapulo synostosis NOT_TRANSLATED +HP:0006595 Humeroscapular synostosis NOT_TRANSLATED +HP:0006595 Synostosis of shoulder joint NOT_TRANSLATED +HP:0006597 Paralysed diaphragm NOT_TRANSLATED +HP:0006597 Paralyzed diaphragm NOT_TRANSLATED +HP:0006606 Irregular costochondral margins NOT_TRANSLATED +HP:0006608 Underdeveloped middle portion of the collarbone NOT_TRANSLATED +HP:0006610 Wide-spaced nipples NOT_TRANSLATED +HP:0006610 Widely spaced nipples NOT_TRANSLATED +HP:0006610 Widely-spaced nipples NOT_TRANSLATED +HP:0006611 Decreased number of sternal ossification centres NOT_TRANSLATED +HP:0006615 Absent rib calcification in utero NOT_TRANSLATED +HP:0006623 Sclerotic costochondral joints NOT_TRANSLATED +HP:0006625 Multifocal breast cancer NOT_TRANSLATED +HP:0006628 Absent bone maturation in sternum NOT_TRANSLATED +HP:0006628 Absent sternal mineralization NOT_TRANSLATED +HP:0006628 Lack of sternal ossification NOT_TRANSLATED +HP:0006631 Small distal segments of the shoulder blade NOT_TRANSLATED +HP:0006631 Small outermost segments of shoulder blade NOT_TRANSLATED +HP:0006631 Underdeveloped outermost segments of shoulder blade NOT_TRANSLATED +HP:0006633 Glenoid hypoplasia NOT_TRANSLATED +HP:0006633 Hypoplastic glenoid fossa NOT_TRANSLATED +HP:0006634 Increased bone density in ribs NOT_TRANSLATED +HP:0006638 Missing middle part of collarbone NOT_TRANSLATED +HP:0006642 Large sternal ossification centres NOT_TRANSLATED +HP:0006643 Fused sternal ossification centres NOT_TRANSLATED +HP:0006645 Thin collarbone NOT_TRANSLATED +HP:0006646 Cartilaginous ossification of rib NOT_TRANSLATED +HP:0006649 Costochondral junction pain NOT_TRANSLATED +HP:0006650 Thickening of the lateral border of the shoulder blade NOT_TRANSLATED +HP:0006657 Hypoplastic first rib NOT_TRANSLATED +HP:0006657 Hypoplastic first ribs NOT_TRANSLATED +HP:0006657 Small first rib NOT_TRANSLATED +HP:0006657 Underdeveloped first rib NOT_TRANSLATED +HP:0006660 Absent clavicles NOT_TRANSLATED +HP:0006660 Absent collarbone NOT_TRANSLATED +HP:0006660 Aplastic clavicles NOT_TRANSLATED +HP:0006668 Small twelfth rib NOT_TRANSLATED +HP:0006668 Underdeveloped twelfth rib NOT_TRANSLATED +HP:0006677 Intraventricular conduction delay NOT_TRANSLATED +HP:0006677 Prolonged QRS complex on EKG NOT_TRANSLATED +HP:0006677 QRS widening NOT_TRANSLATED +HP:0006682 Extra heart beat NOT_TRANSLATED +HP:0006682 Missed heartbeat NOT_TRANSLATED +HP:0006682 Premature ventricular beat NOT_TRANSLATED +HP:0006682 Premature ventricular contractions NOT_TRANSLATED +HP:0006682 Skipped heartbeat NOT_TRANSLATED +HP:0006682 Ventricular ectopics NOT_TRANSLATED +HP:0006682 Ventricular extrasystoles NOT_TRANSLATED +HP:0006682 Ventricular premature beat NOT_TRANSLATED +HP:0006685 Endomyocardial fibrosis NOT_TRANSLATED +HP:0006689 Infective endocarditis NOT_TRANSLATED +HP:0006690 Calcified myocardium NOT_TRANSLATED +HP:0006695 Atrioventricular septal defect NOT_TRANSLATED +HP:0006695 Endocardial cushion defect NOT_TRANSLATED +HP:0006695 Hole in center of heart NOT_TRANSLATED +HP:0006695 Hole in centre of heart NOT_TRANSLATED +HP:0006698 Ventricular aneurysm NOT_TRANSLATED +HP:0006699 Atrial ectopic beats NOT_TRANSLATED +HP:0006699 Atrial premature complex NOT_TRANSLATED +HP:0006699 Ectopic supraventricular rhythms NOT_TRANSLATED +HP:0006699 PACs NOT_TRANSLATED +HP:0006699 Premature supraventricular beats NOT_TRANSLATED +HP:0006703 Absent/small lungs NOT_TRANSLATED +HP:0006703 Absent/underdeveloped lungs NOT_TRANSLATED +HP:0006705 Abnormality of the atrioventricular valves NOT_TRANSLATED +HP:0006707 Abnormality of liver blood vessels NOT_TRANSLATED +HP:0006707 Abnormality of the liver vasculature NOT_TRANSLATED +HP:0006709 Absent/rudimentary nipples NOT_TRANSLATED +HP:0006709 Absent/small nipples NOT_TRANSLATED +HP:0006709 Absent/underdeveloped nipples NOT_TRANSLATED +HP:0006709 Nipples absent or rudimentary NOT_TRANSLATED +HP:0006710 Absent/small collarbone NOT_TRANSLATED +HP:0006710 Absent/underdeveloped collarbone NOT_TRANSLATED +HP:0006711 Absent/small outermost thorax bone NOT_TRANSLATED +HP:0006711 Absent/underdeveloped thorax bone NOT_TRANSLATED +HP:0006712 Absent/small ribs NOT_TRANSLATED +HP:0006712 Absent/underdeveloped ribs NOT_TRANSLATED +HP:0006712 Hypoplastic or missing ribs NOT_TRANSLATED +HP:0006713 Absent/small shoulder blade NOT_TRANSLATED +HP:0006713 Absent/underdeveloped shoulder blade NOT_TRANSLATED +HP:0006714 Absent/small sternum NOT_TRANSLATED +HP:0006714 Absent/underdeveloped sternum NOT_TRANSLATED +HP:0006715 Tympanic nerve tumor NOT_TRANSLATED +HP:0006715 Tympanic nerve tumors NOT_TRANSLATED +HP:0006715 Tympanic nerve tumour NOT_TRANSLATED +HP:0006715 Tympanic nerve tumours NOT_TRANSLATED +HP:0006719 Benign GI tract tumors NOT_TRANSLATED +HP:0006719 Benign GI tract tumours NOT_TRANSLATED +HP:0006719 Benign gastrointestinal tract tumours NOT_TRANSLATED +HP:0006719 Non-cancerous GI tumors NOT_TRANSLATED +HP:0006719 Non-cancerous GI tumours NOT_TRANSLATED +HP:0006721 Acute lymphatic leukaemia NOT_TRANSLATED +HP:0006721 Acute lymphatic leukemia NOT_TRANSLATED +HP:0006721 Acute lymphoblastic leukaemia NOT_TRANSLATED +HP:0006721 Acute lymphocytic leukaemia NOT_TRANSLATED +HP:0006721 Acute lymphocytic leukemia NOT_TRANSLATED +HP:0006721 Acute lymphoid leukaemia NOT_TRANSLATED +HP:0006721 Acute lymphoid leukemia NOT_TRANSLATED +HP:0006733 AMegL NOT_TRANSLATED +HP:0006733 Acute megakaryocytic leukaemia NOT_TRANSLATED +HP:0006735 Kidney cortical adenoma NOT_TRANSLATED +HP:0006737 Pheochromocytoma, extraadrenal NOT_TRANSLATED +HP:0006739 Squamous skin carcinoma NOT_TRANSLATED +HP:0006740 Transitional cell bladder carcinoma NOT_TRANSLATED +HP:0006744 Adrenal carcinoma NOT_TRANSLATED +HP:0006744 Adrenal gland carinoma NOT_TRANSLATED +HP:0006748 Pheochromocytoma, adrenal NOT_TRANSLATED +HP:0006748 Pheochromocytomas, adrenal NOT_TRANSLATED +HP:0006749 Malignant GI tract tumors NOT_TRANSLATED +HP:0006749 Malignant GI tract tumours NOT_TRANSLATED +HP:0006749 Malignant gastrointestinal tract tumours NOT_TRANSLATED +HP:0006753 Neoplasia of the stomach NOT_TRANSLATED +HP:0006753 Stomach tumor NOT_TRANSLATED +HP:0006753 Stomach tumour NOT_TRANSLATED +HP:0006758 Malignant GU tract tumor NOT_TRANSLATED +HP:0006758 Malignant GU tract tumour NOT_TRANSLATED +HP:0006758 Malignant genitourinary tract tumour NOT_TRANSLATED +HP:0006767 Pituitary prolactinoma NOT_TRANSLATED +HP:0006767 Prolactin-secreting pituitary adenoma NOT_TRANSLATED +HP:0006768 Localised neuroblastoma NOT_TRANSLATED +HP:0006769 Myxoid subcutaneous tumours NOT_TRANSLATED +HP:0006770 Nonpapillary renal cell carcinoma NOT_TRANSLATED +HP:0006771 Duodenal cancer NOT_TRANSLATED +HP:0006772 Angiomyolipoma NOT_TRANSLATED +HP:0006772 Kidney angiomyolipoma NOT_TRANSLATED +HP:0006775 Kahler's disease NOT_TRANSLATED +HP:0006775 Plasmocytoma NOT_TRANSLATED +HP:0006778 Benign GU tract neoplasm NOT_TRANSLATED +HP:0006778 Benign genitourinary tract tumor NOT_TRANSLATED +HP:0006778 Benign genitourinary tract tumour NOT_TRANSLATED +HP:0006780 Parathyroid Cancer NOT_TRANSLATED +HP:0006784 Atelectasis of paranasal sinus NOT_TRANSLATED +HP:0006784 Decreased growth of paranasal sinus NOT_TRANSLATED +HP:0006784 Decreased pneumatization of paranasal sinus NOT_TRANSLATED +HP:0006784 Decreased size of paranasal sinus NOT_TRANSLATED +HP:0006784 Decreased volume of paranasal sinus NOT_TRANSLATED +HP:0006784 Hypotrophic paranasal sinus NOT_TRANSLATED +HP:0006784 Small paranasal sinus NOT_TRANSLATED +HP:0006784 Underdevelopment of paranasal sinus NOT_TRANSLATED +HP:0006785 limb girdle muscular dystrophy NOT_TRANSLATED +HP:0006799 Cystic lesions in the basal ganglia NOT_TRANSLATED +HP:0006802 Abnormality of the anterior horn cell NOT_TRANSLATED +HP:0006802 Abnormality of the anterior horn cells NOT_TRANSLATED +HP:0006802 Anomaly of the anterior horn cells NOT_TRANSLATED +HP:0006802 Anterior horn cell disease NOT_TRANSLATED +HP:0006808 Hypomyelination of the brain NOT_TRANSLATED +HP:0006813 Hemiclonic seizure NOT_TRANSLATED +HP:0006813 Hemiclonic seizures NOT_TRANSLATED +HP:0006813 Unilateral clonic seizure NOT_TRANSLATED +HP:0006813 Unilateral clonic seizures NOT_TRANSLATED +HP:0006817 Cerebellar vermis aplasia or hypoplasia NOT_TRANSLATED +HP:0006817 Cerebellar vermis aplasia/hypoplasia NOT_TRANSLATED +HP:0006817 Hypo/aplastic vermis NOT_TRANSLATED +HP:0006818 Classic lissencephaly NOT_TRANSLATED +HP:0006818 Four-layered lissencephaly NOT_TRANSLATED +HP:0006818 Lissencephaly, type I NOT_TRANSLATED +HP:0006818 Type 1 lissencephaly NOT_TRANSLATED +HP:0006818 Type I lissencephaly NOT_TRANSLATED +HP:0006821 Polymicrogyria, anterior to posterior gradient NOT_TRANSLATED +HP:0006824 Cranial nerve palsies NOT_TRANSLATED +HP:0006824 Cranial nerve palsy NOT_TRANSLATED +HP:0006824 Cranial nerve paresis NOT_TRANSLATED +HP:0006827 Degeneration of the spinal cord NOT_TRANSLATED +HP:0006829 Hypotonia, severe NOT_TRANSLATED +HP:0006829 Severely decreased muscle tone NOT_TRANSLATED +HP:0006844 Absent knee jerk reflex NOT_TRANSLATED +HP:0006850 Underdeveloped ventral pons NOT_TRANSLATED +HP:0006851 Spinal nerve root neurofibromas, symmetric, multiple NOT_TRANSLATED +HP:0006852 Episodic generalised hypotonia NOT_TRANSLATED +HP:0006855 Atrophy of cerebellar vermis NOT_TRANSLATED +HP:0006855 Atrophy of the cerebellar vermis NOT_TRANSLATED +HP:0006855 Vermian atrophy NOT_TRANSLATED +HP:0006858 Distal sensory loss of proprioception NOT_TRANSLATED +HP:0006866 Midline CNS lipomas NOT_TRANSLATED +HP:0006872 Small cerebrum NOT_TRANSLATED +HP:0006872 Underdeveloped cerebrum NOT_TRANSLATED +HP:0006879 Cerebellopontine atrophy NOT_TRANSLATED +HP:0006880 Hemangioblastoma, sporadic cerebellar NOT_TRANSLATED +HP:0006886 Decreased distal vibration sense NOT_TRANSLATED +HP:0006887 Mentale retardatie, progressief CANDIDATE +HP:0006887 Progressieve mentale retardatie CANDIDATE +HP:0006889 Mentale retardatie, borderline CANDIDATE +HP:0006892 Cerebral atrophy, frontotemporal NOT_TRANSLATED +HP:0006897 Abducens nerve palsy NOT_TRANSLATED +HP:0006897 Abducens nerve paralysis NOT_TRANSLATED +HP:0006897 Abducens nerve paresis NOT_TRANSLATED +HP:0006897 Cranial nerve VI palsy NOT_TRANSLATED +HP:0006897 Lateral rectus muscle denervation paresis NOT_TRANSLATED +HP:0006897 Sixth nerve palsy NOT_TRANSLATED +HP:0006913 Frontal cortex degeneration NOT_TRANSLATED +HP:0006916 Intraaxonal accumulation of curvilinear profiles NOT_TRANSLATED +HP:0006919 Abnormal aggressive, impulsive or violent behaviour NOT_TRANSLATED +HP:0006919 Aggressive/violent behavior NOT_TRANSLATED +HP:0006919 Aggressive/violent behaviour NOT_TRANSLATED +HP:0006931 Lipoma of corpus callosum NOT_TRANSLATED +HP:0006934 Nystagmus, congenital NOT_TRANSLATED +HP:0006937 Decreased distal touch sense NOT_TRANSLATED +HP:0006937 Decreased touch sensation in extremities NOT_TRANSLATED +HP:0006938 Decreased vibration sense at ankles NOT_TRANSLATED +HP:0006938 Decreased vibration sense in feet NOT_TRANSLATED +HP:0006944 Apallesthesia NOT_TRANSLATED +HP:0006956 Dilatation of lateral cerebral ventricles NOT_TRANSLATED +HP:0006956 Dilation of lateral ventricles NOT_TRANSLATED +HP:0006956 Enlarged lateral ventricles NOT_TRANSLATED +HP:0006958 Abnormal brainstem auditory-evoked potentials NOT_TRANSLATED +HP:0006960 Calcified choroid plexus NOT_TRANSLATED +HP:0006961 Head jerking NOT_TRANSLATED +HP:0006961 Jerking head movements NOT_TRANSLATED +HP:0006962 Unstable walking, worse in the dark NOT_TRANSLATED +HP:0006970 PVL NOT_TRANSLATED +HP:0006980 Leukoencephalopathy, progressive NOT_TRANSLATED +HP:0006986 Uncontrollable movement in upper arms NOT_TRANSLATED +HP:0006989 Dysgenesis of corpus callosum NOT_TRANSLATED +HP:0006989 Dysplasia of corpus callosum NOT_TRANSLATED +HP:0006999 Gliosis in the basal ganglia NOT_TRANSLATED +HP:0007002 Distal motor neuropathy NOT_TRANSLATED +HP:0007002 Length dependent motor neuropathy NOT_TRANSLATED +HP:0007009 CNS degeneration NOT_TRANSLATED +HP:0007010 Fine motor disability NOT_TRANSLATED +HP:0007010 Fine motor impairment NOT_TRANSLATED +HP:0007010 Fine motor skill dysfunction NOT_TRANSLATED +HP:0007010 Impaired fine motor skills NOT_TRANSLATED +HP:0007011 Trochlear nerve palsy NOT_TRANSLATED +HP:0007015 Gross motor impairment NOT_TRANSLATED +HP:0007017 Forgetfullness NOT_TRANSLATED +HP:0007018 ADHD NOT_TRANSLATED +HP:0007018 Attention deficit NOT_TRANSLATED +HP:0007018 Attention deficit disorder NOT_TRANSLATED +HP:0007018 Attention deficit-hyperactivity disorder NOT_TRANSLATED +HP:0007018 Attention deficits NOT_TRANSLATED +HP:0007018 Childhood attention deficit/hyperactivity disorder NOT_TRANSLATED +HP:0007021 Absence of pain sensation NOT_TRANSLATED +HP:0007023 Antenatal intracerebral haemorrhage NOT_TRANSLATED +HP:0007024 Pseudobulbar palsy NOT_TRANSLATED +HP:0007024 Pseudobulbar syndrome NOT_TRANSLATED +HP:0007029 Cerebral saccular aneurysm NOT_TRANSLATED +HP:0007034 Generalised hyperreflexia NOT_TRANSLATED +HP:0007036 Underdeveloped olfactory tract NOT_TRANSLATED +HP:0007054 Hyperreflexia proximally NOT_TRANSLATED +HP:0007058 Generalised cerebral atrophy/hypoplasia NOT_TRANSLATED +HP:0007058 Generalised cerebral degeneration/underdevelopment NOT_TRANSLATED +HP:0007058 Generalized cerebral degeneration/underdevelopment NOT_TRANSLATED +HP:0007063 Absent inferior half of the cerebellar vermis NOT_TRANSLATED +HP:0007065 Disorganisation of the anterior cerebellar vermis NOT_TRANSLATED +HP:0007067 Peripheral sensory neuropathy, distal NOT_TRANSLATED +HP:0007068 Hypoplasia of inferior vermis NOT_TRANSLATED +HP:0007068 Inferior vermis hypoplasia NOT_TRANSLATED +HP:0007074 Abnormal size of corpus callosum NOT_TRANSLATED +HP:0007074 Large corpus callosum NOT_TRANSLATED +HP:0007083 Brisk knee jerk NOT_TRANSLATED +HP:0007083 Hyperreflexia in knees NOT_TRANSLATED +HP:0007083 Overactive knee reflex NOT_TRANSLATED +HP:0007096 Underdeveloped optic tract NOT_TRANSLATED +HP:0007098 Choreoathetosis, episodic NOT_TRANSLATED +HP:0007098 Choreoathetosis, intermittent NOT_TRANSLATED +HP:0007099 Arnold Chiari type I malformation NOT_TRANSLATED +HP:0007099 Arnold-Chiari type I malformation NOT_TRANSLATED +HP:0007099 Chiari I malformation NOT_TRANSLATED +HP:0007103 White matter hypointensities on MRI NOT_TRANSLATED +HP:0007126 Muscle atrophy, proximal NOT_TRANSLATED +HP:0007126 Proximal muscle atrophy NOT_TRANSLATED +HP:0007126 Proximal muscle wasting NOT_TRANSLATED +HP:0007126 Symmetric proximal muscular atrophy NOT_TRANSLATED +HP:0007126 Symmetrical, proximal limb muscle atrophy NOT_TRANSLATED +HP:0007126 Wasting of muscles near the body NOT_TRANSLATED +HP:0007133 Progressive polyneuropathy NOT_TRANSLATED +HP:0007141 Mixed polyneuropathy NOT_TRANSLATED +HP:0007141 Nerve damage causing decreased feeling and movement NOT_TRANSLATED +HP:0007141 Sensorimotor peripheral neuropathy NOT_TRANSLATED +HP:0007149 Distal upper limb muscle atrophy NOT_TRANSLATED +HP:0007158 Progressive extrapyramidal rigidity NOT_TRANSLATED +HP:0007165 Periventricular gray matter heterotopia NOT_TRANSLATED +HP:0007165 Periventricular grey matter heterotopia NOT_TRANSLATED +HP:0007165 Periventricular neuronal heterotopia NOT_TRANSLATED +HP:0007165 Subependymal gray matter heterotopia NOT_TRANSLATED +HP:0007165 Subependymal grey matter heterotopia NOT_TRANSLATED +HP:0007165 Subependymal neuronal heterotopia NOT_TRANSLATED +HP:0007166 Involuntary dystonic or choreiform movements NOT_TRANSLATED +HP:0007178 Peripheral motor neuropathy NOT_TRANSLATED +HP:0007181 Interosseous muscular atrophy NOT_TRANSLATED +HP:0007183 Hyperintense lesions in the basal ganglia on MRI NOT_TRANSLATED +HP:0007185 Passing out NOT_TRANSLATED +HP:0007188 Congenital bilateral facial palsy NOT_TRANSLATED +HP:0007188 Congenital bilateral facial weakness NOT_TRANSLATED +HP:0007193 Generalised tonic-clonic seizures on awakening NOT_TRANSLATED +HP:0007193 Generalized tonic-clonic seizures on awakening NOT_TRANSLATED +HP:0007193 Morning generalised tonic-clonic seizures NOT_TRANSLATED +HP:0007193 Morning generalized tonic-clonic seizures NOT_TRANSLATED +HP:0007201 Plaque build-up in cerebral artery NOT_TRANSLATED +HP:0007207 Photically induced tonic-clonic seizure NOT_TRANSLATED +HP:0007207 Photosensitive tonic-clonic seizures NOT_TRANSLATED +HP:0007207 Seizures, tonic-clonic, photosensitive NOT_TRANSLATED +HP:0007209 Facial paresis NOT_TRANSLATED +HP:0007215 Hyperkalemic periodic paralysis NOT_TRANSLATED +HP:0007238 Cerebral calcification, nonarteriosclerotic NOT_TRANSLATED +HP:0007240 Gait ataxia, progressive NOT_TRANSLATED +HP:0007249 Decreased number of small peripheral myelinated nerve fibres NOT_TRANSLATED +HP:0007256 Corticospinal signs NOT_TRANSLATED +HP:0007256 Pyramidal signs NOT_TRANSLATED +HP:0007256 Pyramidal tract signs NOT_TRANSLATED +HP:0007260 Cobblestone lissencephaly NOT_TRANSLATED +HP:0007260 Lissencephaly type II NOT_TRANSLATED +HP:0007260 Type 2 lissencephaly NOT_TRANSLATED +HP:0007266 Areas of dysmyelination on MRI NOT_TRANSLATED +HP:0007266 Dysmyelination of the brain NOT_TRANSLATED +HP:0007266 White matter dysmyelination/demyelination NOT_TRANSLATED +HP:0007267 Chronic sural axonal neuropathy NOT_TRANSLATED +HP:0007269 Spinal muscle degeneration NOT_TRANSLATED +HP:0007269 Spinal muscle wasting NOT_TRANSLATED +HP:0007270 Atypical absence NOT_TRANSLATED +HP:0007270 Atypical absence seizures NOT_TRANSLATED +HP:0007270 Atypical petit mal seizures NOT_TRANSLATED +HP:0007272 Progressive mental and motor deterioration NOT_TRANSLATED +HP:0007281 Developmental arrest NOT_TRANSLATED +HP:0007285 Facial palsy caused by enlargement of cranial bones NOT_TRANSLATED +HP:0007285 Facial palsy caused by excessive growth of facial bones NOT_TRANSLATED +HP:0007285 Facial palsy caused by overgrowth of cranial bones NOT_TRANSLATED +HP:0007285 Facial palsy secondary to hypertrophy of cranial bones NOT_TRANSLATED +HP:0007289 Limb fasciculation NOT_TRANSLATED +HP:0007301 Oral-motor apraxia NOT_TRANSLATED +HP:0007302 Bipolar disorder NOT_TRANSLATED +HP:0007305 Demyelination in central white matter NOT_TRANSLATED +HP:0007311 Short stepped shuffling walk NOT_TRANSLATED +HP:0007313 Neuroaxonal degeneration in the brain NOT_TRANSLATED +HP:0007321 Deep cerebral white matter hypodensities NOT_TRANSLATED +HP:0007325 Generalised dystonia NOT_TRANSLATED +HP:0007328 Decreased pain sensation NOT_TRANSLATED +HP:0007328 Decreased pinprick sensation NOT_TRANSLATED +HP:0007332 Hemifacial seizures NOT_TRANSLATED +HP:0007333 Frontal lobe hypoplasia NOT_TRANSLATED +HP:0007333 Hypoplastic frontal lobes NOT_TRANSLATED +HP:0007333 Underdeveloped frontal lobe NOT_TRANSLATED +HP:0007334 Focal seizure with secondary generalisation NOT_TRANSLATED +HP:0007334 Focal seizure with secondary generalization NOT_TRANSLATED +HP:0007334 Focal to bilateral tonic-clonic seizure NOT_TRANSLATED +HP:0007334 Generalised tonic-clonic seizure with focal onset NOT_TRANSLATED +HP:0007334 Generalised tonic-clonic seizure with partial onset NOT_TRANSLATED +HP:0007334 Generalised tonic-clonic seizures with focal onset NOT_TRANSLATED +HP:0007334 Generalized tonic-clonic seizure with focal onset NOT_TRANSLATED +HP:0007334 Generalized tonic-clonic seizure with partial onset NOT_TRANSLATED +HP:0007334 Generalized tonic-clonic seizures with focal onset NOT_TRANSLATED +HP:0007334 Partial seizure with secondary generalisation NOT_TRANSLATED +HP:0007334 Partial seizure with secondary generalization NOT_TRANSLATED +HP:0007334 Partial seizures with secondary generalisation NOT_TRANSLATED +HP:0007334 Partial seizures with secondary generalization NOT_TRANSLATED +HP:0007334 Secondarily generalised tonic-clonic seizure NOT_TRANSLATED +HP:0007334 Secondarily generalised tonic-clonic seizures NOT_TRANSLATED +HP:0007334 Secondarily generalized tonic-clonic seizure NOT_TRANSLATED +HP:0007334 Secondary generalised tonic clonic seizures NOT_TRANSLATED +HP:0007334 Secondary generalised tonic-clonic seizures NOT_TRANSLATED +HP:0007334 Secondary generalized tonic clonic seizures NOT_TRANSLATED +HP:0007334 Secondary generalized tonic-clonic seizures NOT_TRANSLATED +HP:0007335 Recurrent cerebellar and extrapyramidal encephalopathy NOT_TRANSLATED +HP:0007340 Leg weakness NOT_TRANSLATED +HP:0007340 Lower extremity weakness NOT_TRANSLATED +HP:0007340 Lower limb weakness NOT_TRANSLATED +HP:0007340 Muscle weakness in lower limbs NOT_TRANSLATED +HP:0007343 Limbic malformation NOT_TRANSLATED +HP:0007344 Atrophic and degenerative changes in the spinal cord NOT_TRANSLATED +HP:0007351 Postural tremor of arms NOT_TRANSLATED +HP:0007354 Lou Gehrig's disease NOT_TRANSLATED +HP:0007359 Focal onset seizure NOT_TRANSLATED +HP:0007359 Focal seizure NOT_TRANSLATED +HP:0007359 Focal seizures NOT_TRANSLATED +HP:0007359 Focal-onset seizures NOT_TRANSLATED +HP:0007359 Partial seizure NOT_TRANSLATED +HP:0007359 Partial seizures NOT_TRANSLATED +HP:0007359 Seizure affecting one half of brain NOT_TRANSLATED +HP:0007360 Absent/small cerebellum NOT_TRANSLATED +HP:0007360 Absent/underdeveloped cerebellum NOT_TRANSLATED +HP:0007360 Atrophy/Degeneration affecting the cerebellum NOT_TRANSLATED +HP:0007360 Atrophy/Hypoplasia of the cerebellum NOT_TRANSLATED +HP:0007360 Cerebellar hypoplasia/atrophy NOT_TRANSLATED +HP:0007361 Abnormality of the pons NOT_TRANSLATED +HP:0007362 Absent/small brainstem NOT_TRANSLATED +HP:0007362 Absent/underdeveloped brainstem NOT_TRANSLATED +HP:0007364 Absent/small cerebrum NOT_TRANSLATED +HP:0007364 Absent/underdeveloped cerebrum NOT_TRANSLATED +HP:0007366 Brainstem atrophy NOT_TRANSLATED +HP:0007367 Atrophy/Degeneration affecting the CNS NOT_TRANSLATED +HP:0007370 Absent/hypoplastic corpus callosum NOT_TRANSLATED +HP:0007370 Agenesis/hypoplastic corpus callosum NOT_TRANSLATED +HP:0007370 Complete or partial absence of the corpus callosum NOT_TRANSLATED +HP:0007370 Hypoplasia or absence of the corpus callosum NOT_TRANSLATED +HP:0007370 Hypoplastic or absent corpus callosum NOT_TRANSLATED +HP:0007371 Atrophic corpus callosum NOT_TRANSLATED +HP:0007371 Atrophy of the corpus callosum NOT_TRANSLATED +HP:0007371 Atrophy/Degeneration of the corpus callosum NOT_TRANSLATED +HP:0007373 Motor neuron degeneration NOT_TRANSLATED +HP:0007375 Abnormality of the septum pellucidum NOT_TRANSLATED +HP:0007377 Abnormality of SSEPs NOT_TRANSLATED +HP:0007378 GI tract tumor NOT_TRANSLATED +HP:0007378 GI tract tumour NOT_TRANSLATED +HP:0007378 Gastrointestinal tract neoplasia NOT_TRANSLATED +HP:0007378 Gastrointestinal tract neoplasm NOT_TRANSLATED +HP:0007378 Gastrointestinal tract tumor NOT_TRANSLATED +HP:0007378 Gastrointestinal tract tumour NOT_TRANSLATED +HP:0007378 Neoplasm of the GI tract NOT_TRANSLATED +HP:0007379 Genitourinary tract neoplasia NOT_TRANSLATED +HP:0007379 Genitourinary tract neoplasm NOT_TRANSLATED +HP:0007379 Genitourinary tract tumors NOT_TRANSLATED +HP:0007379 Genitourinary tract tumours NOT_TRANSLATED +HP:0007379 Neoplasm of the GU tract NOT_TRANSLATED +HP:0007380 Facial telangiectatic vessels NOT_TRANSLATED +HP:0007380 Telangiectasia, facial NOT_TRANSLATED +HP:0007383 Congenital localised absence of skin NOT_TRANSLATED +HP:0007383 Congenital localised skin absence NOT_TRANSLATED +HP:0007383 Congenital localized skin absence NOT_TRANSLATED +HP:0007385 Defect of scalp NOT_TRANSLATED +HP:0007385 Focal absence of scalp tissue NOT_TRANSLATED +HP:0007385 Scalp aplasia cutis congenita NOT_TRANSLATED +HP:0007385 Scalp defect NOT_TRANSLATED +HP:0007385 Solitary scalp defect NOT_TRANSLATED +HP:0007387 Underdeveloped sweat glands NOT_TRANSLATED +HP:0007394 Prominent superficial vasculature NOT_TRANSLATED +HP:0007395 Postnatal-onset ichthyosis NOT_TRANSLATED +HP:0007396 Sun sensitivity occurring early in life NOT_TRANSLATED +HP:0007403 Thick skin of soles NOT_TRANSLATED +HP:0007404 Nonepidermolytic palmoplantar keratoderma NOT_TRANSLATED +HP:0007406 Brown eyelids NOT_TRANSLATED +HP:0007406 Dark eyelids NOT_TRANSLATED +HP:0007406 Pigmentation of eyelids NOT_TRANSLATED +HP:0007407 Excessive skin wrinkling on back of hands and fingers NOT_TRANSLATED +HP:0007410 Excessive sweating of palms and soles NOT_TRANSLATED +HP:0007410 Hyperhidrosis of palms and soles NOT_TRANSLATED +HP:0007413 Port-wine stain on forehead NOT_TRANSLATED +HP:0007414 Wrinkled skin of hands and feet in newborn NOT_TRANSLATED +HP:0007417 Discoid lupus erythematosus NOT_TRANSLATED +HP:0007418 Total alopecia NOT_TRANSLATED +HP:0007421 Telangiectasia on the cheeks NOT_TRANSLATED +HP:0007425 Hyperelastic face skin NOT_TRANSLATED +HP:0007425 Stretchable face skin NOT_TRANSLATED +HP:0007427 Reticular pigmentation pattern NOT_TRANSLATED +HP:0007427 Reticulate skin pigmentation NOT_TRANSLATED +HP:0007428 Angioectasia of the oral mucosa NOT_TRANSLATED +HP:0007428 Angioectasia of the oral mucous membrane NOT_TRANSLATED +HP:0007428 Spider veins of the oral mucosa NOT_TRANSLATED +HP:0007428 Telangiectasia of the oral mucous membrane NOT_TRANSLATED +HP:0007430 Generalised oedema NOT_TRANSLATED +HP:0007430 Generalised tissue oedema NOT_TRANSLATED +HP:0007430 Generalized tissue edema NOT_TRANSLATED +HP:0007431 Congenital ichthyosis NOT_TRANSLATED +HP:0007431 Ichthyosis, congenital NOT_TRANSLATED +HP:0007432 Intermittent generalised erythematous papular rash NOT_TRANSLATED +HP:0007434 Hemangioma, facial, plaque-like NOT_TRANSLATED +HP:0007439 Generalised keratosis follicularis NOT_TRANSLATED +HP:0007440 Generalised hyperpigmentation NOT_TRANSLATED +HP:0007443 Congenital partial albinism on face, trunk, or limbs NOT_TRANSLATED +HP:0007443 Congenital partial leucoderma NOT_TRANSLATED +HP:0007443 Partial absent skin pigmentation NOT_TRANSLATED +HP:0007447 Diffuse palmoplantar keratoderma NOT_TRANSLATED +HP:0007447 Hyperkeratosis, diffuse palmoplantar NOT_TRANSLATED +HP:0007452 Midfacial capillary hemangioma NOT_TRANSLATED +HP:0007459 Generalised anhidrosis NOT_TRANSLATED +HP:0007459 Generalised anhydrosis NOT_TRANSLATED +HP:0007459 Generalised inability to sweat NOT_TRANSLATED +HP:0007459 Generalized anhydrosis NOT_TRANSLATED +HP:0007459 Generalized inability to sweat NOT_TRANSLATED +HP:0007462 Bitot's spots NOT_TRANSLATED +HP:0007469 Cutis gyrata of palms and soles NOT_TRANSLATED +HP:0007475 Bullous congenital ichthyosiform erythroderma NOT_TRANSLATED +HP:0007475 Epidermolytic hyperkeratosis NOT_TRANSLATED +HP:0007477 Abnormal fingerprints NOT_TRANSLATED +HP:0007477 Dermatoglyphic abnormalities NOT_TRANSLATED +HP:0007479 Collodion baby NOT_TRANSLATED +HP:0007479 Congenital lamellar ichthyosis NOT_TRANSLATED +HP:0007479 Congenital non-bullous ichthyosis NOT_TRANSLATED +HP:0007479 Ichthyosis lammellaris NOT_TRANSLATED +HP:0007479 Ichthyosis, congenital, nonblistering NOT_TRANSLATED +HP:0007479 Nonbullous congenital ichthyosiform erythroderma NOT_TRANSLATED +HP:0007479 Nonbullous congenital ichthyosis NOT_TRANSLATED +HP:0007482 Generalised papillary lesions NOT_TRANSLATED +HP:0007485 Absent fat below the skin NOT_TRANSLATED +HP:0007485 General absence of subcutaneous fat NOT_TRANSLATED +HP:0007485 Lack of fatty tissue below the skin NOT_TRANSLATED +HP:0007489 Diffuse telangiectases NOT_TRANSLATED +HP:0007489 Telangiectases, random body distribution NOT_TRANSLATED +HP:0007495 Precociously senile appearance NOT_TRANSLATED +HP:0007497 Hyperkeratosis, palmoplantar, focal friction-related NOT_TRANSLATED +HP:0007500 Decreased sweat glands NOT_TRANSLATED +HP:0007500 Decreased sweat pores NOT_TRANSLATED +HP:0007502 Hyperkeratosis follicularis NOT_TRANSLATED +HP:0007503 Generalised ichthyosis NOT_TRANSLATED +HP:0007506 Missing skin on limbs since birth NOT_TRANSLATED +HP:0007509 Patchy hypo- and hyper-pigmentation NOT_TRANSLATED +HP:0007513 Fair skin NOT_TRANSLATED +HP:0007513 Generalised hypopigmentation NOT_TRANSLATED +HP:0007513 Pale pigmentation NOT_TRANSLATED +HP:0007514 Edema of dorsum of hands NOT_TRANSLATED +HP:0007514 Oedema of dorsum of hands NOT_TRANSLATED +HP:0007514 Oedema of the dorsum of hands NOT_TRANSLATED +HP:0007516 Extra skin on fingers NOT_TRANSLATED +HP:0007517 Excessive wrinkled skin of palms and soles NOT_TRANSLATED +HP:0007517 Furrowed palms and soles NOT_TRANSLATED +HP:0007517 Increased wrinkles of palms and soles NOT_TRANSLATED +HP:0007517 Wrinkled palms and soles NOT_TRANSLATED +HP:0007517 Wrinkled skin of hands and feet NOT_TRANSLATED +HP:0007526 Hypopigmented upper extremeity skin patches NOT_TRANSLATED +HP:0007526 Patchy loss of skin color on arms NOT_TRANSLATED +HP:0007526 Patchy loss of skin colour on arms NOT_TRANSLATED +HP:0007537 Severe sun sensitivity NOT_TRANSLATED +HP:0007543 Increased thickness of skin epidermis NOT_TRANSLATED +HP:0007545 Congenital palmoplantar keratoderma NOT_TRANSLATED +HP:0007545 Congenital palmoplantar keratodermia NOT_TRANSLATED +HP:0007545 Congenital palmoplantar keratosis NOT_TRANSLATED +HP:0007550 Lack of sweating or excessive sweating NOT_TRANSLATED +HP:0007552 Abnormal fat tissue distribution below the skin NOT_TRANSLATED +HP:0007556 Plantar hyperkeratoses NOT_TRANSLATED +HP:0007559 Localised epidermolytic hyperkeratosis NOT_TRANSLATED +HP:0007565 Multiple birthmarks NOT_TRANSLATED +HP:0007565 Multiple flat light-brown marks on skin NOT_TRANSLATED +HP:0007569 Generalised seborrheic dermatitis NOT_TRANSLATED +HP:0007569 Generalised seborrheic eczema NOT_TRANSLATED +HP:0007569 Generalized seborrheic eczema NOT_TRANSLATED +HP:0007570 Flegel disease NOT_TRANSLATED +HP:0007573 Late onset baby eczema NOT_TRANSLATED +HP:0007574 Bronze skin NOT_TRANSLATED +HP:0007574 Generalised bronze hyperpigmentation NOT_TRANSLATED +HP:0007588 Reticulate hyperpigmentation NOT_TRANSLATED +HP:0007592 Hypoplastic-absent eccrine sweat glands NOT_TRANSLATED +HP:0007595 Excess skin in infancy NOT_TRANSLATED +HP:0007596 Painful noncancerous fat tissue tumor under the skin NOT_TRANSLATED +HP:0007596 Painful noncancerous fat tissue tumour under the skin NOT_TRANSLATED +HP:0007599 Generalised reticulate brown pigmentation NOT_TRANSLATED +HP:0007605 Redundant, wrinkled skin of palms NOT_TRANSLATED +HP:0007609 Hypoproteinemic oedema NOT_TRANSLATED +HP:0007616 Angel's kiss NOT_TRANSLATED +HP:0007616 Port-wine stain on neck NOT_TRANSLATED +HP:0007616 Salmon patch NOT_TRANSLATED +HP:0007616 Stork bite NOT_TRANSLATED +HP:0007618 Skin calcification NOT_TRANSLATED +HP:0007620 Cutaneous leiomyomas NOT_TRANSLATED +HP:0007620 Cutaneous leiomyomata NOT_TRANSLATED +HP:0007623 Abnormal pigmentation in sun-exposed skin NOT_TRANSLATED +HP:0007626 Lower jaw bone infection NOT_TRANSLATED +HP:0007626 Osteomyelitis, especially of the mandible NOT_TRANSLATED +HP:0007627 Absence of the condylar head of mandible NOT_TRANSLATED +HP:0007627 Absence of the condylar neck of mandible NOT_TRANSLATED +HP:0007627 Absence of the condylar process of mandible NOT_TRANSLATED +HP:0007627 Agenesis of condylar head of mandible NOT_TRANSLATED +HP:0007627 Agenesis of condylar neck of mandible NOT_TRANSLATED +HP:0007627 Agenesis of condylar process of mandible NOT_TRANSLATED +HP:0007627 Failure of development of condylar head of mandible NOT_TRANSLATED +HP:0007627 Failure of development of condylar neck of mandible NOT_TRANSLATED +HP:0007627 Failure of development of the condylar process of mandible NOT_TRANSLATED +HP:0007627 Underdevelopment of condylar head of mandible NOT_TRANSLATED +HP:0007627 Underdevelopment of condylar neck of mandible NOT_TRANSLATED +HP:0007627 Underdevelopment of condylar process of mandible NOT_TRANSLATED +HP:0007628 Decreased size of condylar process of mandible NOT_TRANSLATED +HP:0007628 Decreased size of mandibular condyle NOT_TRANSLATED +HP:0007628 Hypoplasia of condylar head of mandible NOT_TRANSLATED +HP:0007628 Hypoplasia of condylar neck of mandible NOT_TRANSLATED +HP:0007628 Hypoplasia of condylar process of mandible NOT_TRANSLATED +HP:0007628 Hypoplasia of mandibular condyle NOT_TRANSLATED +HP:0007628 Hypoplasia of subcondylar region of mandible NOT_TRANSLATED +HP:0007628 Hypotrophic condylar process of mandible NOT_TRANSLATED +HP:0007628 Hypotrophic mandibular condyle NOT_TRANSLATED +HP:0007628 Small condylar head of mandible NOT_TRANSLATED +HP:0007628 Small condylar neck of mandible NOT_TRANSLATED +HP:0007628 Small mandibular condyle NOT_TRANSLATED +HP:0007633 Abnormally small eyeball on both sides NOT_TRANSLATED +HP:0007633 Bilateral nanophthalmos NOT_TRANSLATED +HP:0007633 Decreased size of eyeballs NOT_TRANSLATED +HP:0007633 Decreased size of globes of eyes NOT_TRANSLATED +HP:0007633 Microphthalmia, bilateral NOT_TRANSLATED +HP:0007634 Nonarteritic anterior ischaemic optic neuropathy NOT_TRANSLATED +HP:0007641 Color blindness NOT_TRANSLATED +HP:0007641 Colour blindness NOT_TRANSLATED +HP:0007642 Congenital night blindness NOT_TRANSLATED +HP:0007642 Night blindness since birth NOT_TRANSLATED +HP:0007642 Night blindness, congenital NOT_TRANSLATED +HP:0007642 Night blindness, congenital stationary NOT_TRANSLATED +HP:0007642 Night blindness, congenital stationary, complete NOT_TRANSLATED +HP:0007642 Night blindness, stationary NOT_TRANSLATED +HP:0007642 Static congenital hemeralopia NOT_TRANSLATED +HP:0007643 Peripheral traction retinal detachment NOT_TRANSLATED +HP:0007643 Tractional retinal detachment at the periphery of the retina NOT_TRANSLATED +HP:0007646 Agenesis of lower eyelashes NOT_TRANSLATED +HP:0007646 Aplasia of lower eyelashes NOT_TRANSLATED +HP:0007646 Atrichia of lower eyelashes NOT_TRANSLATED +HP:0007646 Failure of development of lower eyelashes NOT_TRANSLATED +HP:0007648 Punctate lenticular opacities NOT_TRANSLATED +HP:0007651 Everted lower eyelids NOT_TRANSLATED +HP:0007651 Lower eyelid folded out NOT_TRANSLATED +HP:0007651 Lower eyelid turned out NOT_TRANSLATED +HP:0007656 Absent tear gland NOT_TRANSLATED +HP:0007663 Decreased central vision NOT_TRANSLATED +HP:0007663 Decreased clarity of vision NOT_TRANSLATED +HP:0007663 Decreased visual acuity NOT_TRANSLATED +HP:0007663 Poor visual acuity NOT_TRANSLATED +HP:0007667 Cystic retinal degeneration NOT_TRANSLATED +HP:0007667 Peripheral cystoid degeneration NOT_TRANSLATED +HP:0007670 Abnormal vestibuloocular reflex NOT_TRANSLATED +HP:0007676 Hypoplastic iris NOT_TRANSLATED +HP:0007676 Iris hypoplasia NOT_TRANSLATED +HP:0007676 Underdeveloped iris NOT_TRANSLATED +HP:0007677 Vitelliform macular dystrophy NOT_TRANSLATED +HP:0007677 Vitelliform macular lesions NOT_TRANSLATED +HP:0007678 Narrowing of the tear duct NOT_TRANSLATED +HP:0007678 Nasolacrimal duct stenosis NOT_TRANSLATED +HP:0007687 Dropping of one upper eyelid NOT_TRANSLATED +HP:0007688 Absent cone and rod functions by electroretinogram NOT_TRANSLATED +HP:0007688 Absent rod-and cone-mediated responses on ERG NOT_TRANSLATED +HP:0007697 Decreased size of lower eyelid NOT_TRANSLATED +HP:0007697 Hypotrophic lower eyelid NOT_TRANSLATED +HP:0007697 Short lower eyelid NOT_TRANSLATED +HP:0007697 Small lower eyelid NOT_TRANSLATED +HP:0007697 Underdevelopment of lower eyelid NOT_TRANSLATED +HP:0007700 Anterior chamber cleavage defect NOT_TRANSLATED +HP:0007700 Anterior chamber cleavage disorder NOT_TRANSLATED +HP:0007700 Anterior chamber malformation NOT_TRANSLATED +HP:0007700 Anterior chamber mesodermal anomalies NOT_TRANSLATED +HP:0007700 Anterior segment developmental abnormality NOT_TRANSLATED +HP:0007700 Anterior segment dysgenesis NOT_TRANSLATED +HP:0007700 Anterior segment mesencyhmal dysgenesis NOT_TRANSLATED +HP:0007700 Anterior segment ocular dysgenesis NOT_TRANSLATED +HP:0007703 Abnormal retinal pigmentation NOT_TRANSLATED +HP:0007703 Abnormality of RPE NOT_TRANSLATED +HP:0007703 Abnormality of retinal pigment epithelium NOT_TRANSLATED +HP:0007703 Abnormality of the retinal pigment epithelium NOT_TRANSLATED +HP:0007703 Retinal pigmentary anomaly NOT_TRANSLATED +HP:0007704 Abnormal eye movements, paroxysmal NOT_TRANSLATED +HP:0007707 Lens agenesis NOT_TRANSLATED +HP:0007716 Intraocular melanoma NOT_TRANSLATED +HP:0007720 Cornea plana NOT_TRANSLATED +HP:0007721 Saccular conjunctival aneurysms NOT_TRANSLATED +HP:0007727 Superficial corneal opacities NOT_TRANSLATED +HP:0007730 Light eye color NOT_TRANSLATED +HP:0007730 Light eye colour NOT_TRANSLATED +HP:0007730 Reduced iris pigmentation NOT_TRANSLATED +HP:0007732 Hypoplastic lacrimal gland NOT_TRANSLATED +HP:0007732 Underdeveloped tear gland NOT_TRANSLATED +HP:0007734 Enlarged tear gland NOT_TRANSLATED +HP:0007737 Bone corpuscle fundus pigmentation NOT_TRANSLATED +HP:0007737 Fundus with peripheral bony spicules NOT_TRANSLATED +HP:0007737 Retinal 'bone corpuscle' pigmentation NOT_TRANSLATED +HP:0007737 Retinal bone corpuscle pigmentation NOT_TRANSLATED +HP:0007737 Retinal pigmented bone spicules NOT_TRANSLATED +HP:0007750 Foveal hypoplasia NOT_TRANSLATED +HP:0007759 Cloudy cornea NOT_TRANSLATED +HP:0007759 Cloudy corneas NOT_TRANSLATED +HP:0007759 Corneal stromal opacity NOT_TRANSLATED +HP:0007766 Hypoplastic optic discs NOT_TRANSLATED +HP:0007766 Hypoplastic optic disks NOT_TRANSLATED +HP:0007768 Tortuosity of main retinal vessels NOT_TRANSLATED +HP:0007770 Retinal hypoplasia NOT_TRANSLATED +HP:0007770 Underdeveloped retina NOT_TRANSLATED +HP:0007772 Abnormal visual pursuit NOT_TRANSLATED +HP:0007772 Abnormality of visual tracking NOT_TRANSLATED +HP:0007772 Impairment of visual pursuit NOT_TRANSLATED +HP:0007773 Vitreoretinal abnormality NOT_TRANSLATED +HP:0007773 Vitreoretinal degeneration NOT_TRANSLATED +HP:0007776 Hypotrichosis of lower eyelashes NOT_TRANSLATED +HP:0007776 Partial absence of lower eyelashes NOT_TRANSLATED +HP:0007776 Scanty lower eyelashes NOT_TRANSLATED +HP:0007776 Thin lower eyelashes NOT_TRANSLATED +HP:0007778 Neovascularization of peripheral and posterior retina NOT_TRANSLATED +HP:0007778 Posterior retinal neovascularisation NOT_TRANSLATED +HP:0007780 Cataracts, cortical pulverulent NOT_TRANSLATED +HP:0007787 Posterior subcapsular cataracts NOT_TRANSLATED +HP:0007787 Posterior subcapsular opacities of the lens NOT_TRANSLATED +HP:0007793 Macular retinal pigment epithelial mottling NOT_TRANSLATED +HP:0007800 Globe elongated NOT_TRANSLATED +HP:0007800 Increased axial globe length NOT_TRANSLATED +HP:0007800 Increased front to back length of eyeball NOT_TRANSLATED +HP:0007803 Complete achromatopsia NOT_TRANSLATED +HP:0007803 Total colorblindness NOT_TRANSLATED +HP:0007812 Dendritic corneal epithelial ulcer NOT_TRANSLATED +HP:0007812 Herpetiform corneal ulcers NOT_TRANSLATED +HP:0007814 Focal hypopigmentation of the retinal pigment epithelium NOT_TRANSLATED +HP:0007814 RPE irregularity NOT_TRANSLATED +HP:0007814 RPE mottling NOT_TRANSLATED +HP:0007814 Retinal pigment epithelium irregularity NOT_TRANSLATED +HP:0007814 Salt and pepper retinal pigmentation NOT_TRANSLATED +HP:0007814 Salt and pepper retinopathy NOT_TRANSLATED +HP:0007818 Ring iris heterochromia NOT_TRANSLATED +HP:0007819 Presenile cataract NOT_TRANSLATED +HP:0007820 Atretic lacrimal puncta NOT_TRANSLATED +HP:0007820 Atretic lacrimal punctum NOT_TRANSLATED +HP:0007824 Complete ophthalmoplegia NOT_TRANSLATED +HP:0007824 Global paralysis of gaze NOT_TRANSLATED +HP:0007824 Total internal and external ophthalmoplegia NOT_TRANSLATED +HP:0007832 Pigmentation of the outer white part of the eyeball NOT_TRANSLATED +HP:0007834 Cataract, progressive NOT_TRANSLATED +HP:0007835 S-shaped eyes NOT_TRANSLATED +HP:0007835 S-shaped opening between the eyelids NOT_TRANSLATED +HP:0007838 Progressive drooping of upper eyelid NOT_TRANSLATED +HP:0007840 Ciliary trichomegaly of upper eyelashes NOT_TRANSLATED +HP:0007840 Increased length of upper eyelashes NOT_TRANSLATED +HP:0007841 Amyloid deposition in the vitreous humour NOT_TRANSLATED +HP:0007841 Vitreous amyloid deposits NOT_TRANSLATED +HP:0007843 Narrowing of blood vessels in back of eye NOT_TRANSLATED +HP:0007856 Punctate corneal opacities NOT_TRANSLATED +HP:0007858 Lacunar retinal depigmentation NOT_TRANSLATED +HP:0007859 Nystagmus, congenital horizontal NOT_TRANSLATED +HP:0007873 Prominent Schwalbe lines NOT_TRANSLATED +HP:0007874 Almond shaped eyes NOT_TRANSLATED +HP:0007874 Almond-shaped opening between the eyelids NOT_TRANSLATED +HP:0007875 Blindness present at birth NOT_TRANSLATED +HP:0007875 Congenital amaurosis NOT_TRANSLATED +HP:0007886 Absent ocular muscles NOT_TRANSLATED +HP:0007886 Missing eye muscles NOT_TRANSLATED +HP:0007889 Cataracts, posterior, subcapsular, iridescent NOT_TRANSLATED +HP:0007892 Hypoplasia of the lacrimal puncta NOT_TRANSLATED +HP:0007892 Hypoplastic lacrimal puncta NOT_TRANSLATED +HP:0007894 Decreased fundus pigmentation NOT_TRANSLATED +HP:0007894 Fundus hypopigmentation NOT_TRANSLATED +HP:0007899 Congenital retinal non-attachment NOT_TRANSLATED +HP:0007900 Underdeveloped tear duct NOT_TRANSLATED +HP:0007902 Vitreous haemorrhage NOT_TRANSLATED +HP:0007905 Abnormality of iris blood vessels NOT_TRANSLATED +HP:0007906 Elevated IOP NOT_TRANSLATED +HP:0007906 Elevated intraocular pressure NOT_TRANSLATED +HP:0007906 High eye pressure NOT_TRANSLATED +HP:0007906 Increased IOP NOT_TRANSLATED +HP:0007906 Increased intraocular pressure NOT_TRANSLATED +HP:0007906 Raised IOP NOT_TRANSLATED +HP:0007906 Raised intraocular pressure NOT_TRANSLATED +HP:0007911 Congenital drooping of both upper eyelids NOT_TRANSLATED +HP:0007911 Ptosis, bilateral congenital NOT_TRANSLATED +HP:0007911 Ptosis, congenital bilateral NOT_TRANSLATED +HP:0007922 Hypermyelinated retinal nerve fibres NOT_TRANSLATED +HP:0007922 Retinal striation NOT_TRANSLATED +HP:0007924 Decreased visual acuity, slowly progressive NOT_TRANSLATED +HP:0007924 Slow decrease in sharpness of vision NOT_TRANSLATED +HP:0007924 Subacute deterioration of visual acuity NOT_TRANSLATED +HP:0007925 Absent tear duct NOT_TRANSLATED +HP:0007933 Wide lateral eyebrow NOT_TRANSLATED +HP:0007936 Restrictive external ophthalmoplegia, bilateral NOT_TRANSLATED +HP:0007936 Restrictive ophthalmoplegia NOT_TRANSLATED +HP:0007937 Fishnet retinal pigmentation NOT_TRANSLATED +HP:0007937 Honeycomb retinal degeneration NOT_TRANSLATED +HP:0007939 Blue cone monochromatism NOT_TRANSLATED +HP:0007939 Incomplete achromatopsia NOT_TRANSLATED +HP:0007939 S-cone monochromacy NOT_TRANSLATED +HP:0007941 Limited extraocular movement NOT_TRANSLATED +HP:0007946 Narrow palpebral fissure, unilateral NOT_TRANSLATED +HP:0007946 Unequal size of opening between the eyelids NOT_TRANSLATED +HP:0007957 Corneal clouding NOT_TRANSLATED +HP:0007957 Corneal opacities NOT_TRANSLATED +HP:0007957 Reduction of corneal clarity NOT_TRANSLATED +HP:0007957 Scarring or clouding of the cornea of the eye NOT_TRANSLATED +HP:0007965 Absence of visual evoked potentials NOT_TRANSLATED +HP:0007965 Non-detectable VEP NOT_TRANSLATED +HP:0007965 Undetectable VEP NOT_TRANSLATED +HP:0007968 Congenital retinal septum NOT_TRANSLATED +HP:0007968 Persistent fetal vasculature NOT_TRANSLATED +HP:0007968 Persistent foetal vasculature NOT_TRANSLATED +HP:0007968 Persistent hyperplasia of primary vitreous NOT_TRANSLATED +HP:0007968 Persistent hyperplastic primary vitreous NOT_TRANSLATED +HP:0007968 Persistent hypertrophic primary vitreous NOT_TRANSLATED +HP:0007968 Persistent posterior fetal fibrovascular sheath of the lens NOT_TRANSLATED +HP:0007968 Persistent posterior foetal fibrovascular sheath of the lens NOT_TRANSLATED +HP:0007968 Persistent tunica vasculosa lentis NOT_TRANSLATED +HP:0007970 Congenital drooping upper eyelid NOT_TRANSLATED +HP:0007973 Retinal dysgenesis NOT_TRANSLATED +HP:0007976 Cataracts, congenital, cerulean NOT_TRANSLATED +HP:0007979 Nystagmus, horizontal gaze-evoked NOT_TRANSLATED +HP:0007979 Nystagmus, horizontal, gaze-evoked NOT_TRANSLATED +HP:0007984 Electronegative ERG NOT_TRANSLATED +HP:0007984 Electroretinogram: reduced b-wave amplitude NOT_TRANSLATED +HP:0007984 Reduced ERG amplitude of b-wave NOT_TRANSLATED +HP:0007984 Reduced amplitude of dark-adapted bright flash electroretinogram b-wave NOT_TRANSLATED +HP:0007984 Reduced electroretinogram rod b-wave NOT_TRANSLATED +HP:0007985 Blocked retinal artery NOT_TRANSLATED +HP:0007990 Hypoplastic iris stoma NOT_TRANSLATED +HP:0007990 Iris stromal hypoplasia NOT_TRANSLATED +HP:0007990 Underdeveloped iris stroma NOT_TRANSLATED +HP:0007993 Malformed tear ducts NOT_TRANSLATED +HP:0007994 Kalnienk vision NOT_TRANSLATED +HP:0007994 Loss of peripheral vision NOT_TRANSLATED +HP:0007994 Tunnel vision NOT_TRANSLATED +HP:0008000 Decreased blink reflex NOT_TRANSLATED +HP:0008000 Reduced corneal reflex NOT_TRANSLATED +HP:0008002 Macular pigmentary changes NOT_TRANSLATED +HP:0008003 Jerky smooth pursuit NOT_TRANSLATED +HP:0008009 Triple row of eyelashes NOT_TRANSLATED +HP:0008011 Peripheral corneal opacity NOT_TRANSLATED +HP:0008019 Superior subluxated lens NOT_TRANSLATED +HP:0008020 Progressive cone degeneration NOT_TRANSLATED +HP:0008020 Progressive cone dystrophy NOT_TRANSLATED +HP:0008028 Cystic macular degeneration NOT_TRANSLATED +HP:0008031 Posterior Y-sutural cataracts NOT_TRANSLATED +HP:0008035 Central retinitis pigmentosa NOT_TRANSLATED +HP:0008038 Absent/underdeveloped lacrimal glands NOT_TRANSLATED +HP:0008038 Absent/underdeveloped tear glands NOT_TRANSLATED +HP:0008043 Constricted retinal arterioles NOT_TRANSLATED +HP:0008043 Narrow retinal arterioles NOT_TRANSLATED +HP:0008043 Retinal arteriolar narrowing NOT_TRANSLATED +HP:0008045 High flash visual evoked potentials NOT_TRANSLATED +HP:0008046 Abnormality of retina blood vessels NOT_TRANSLATED +HP:0008046 Abnormality of the retinal vasculature NOT_TRANSLATED +HP:0008047 Abnormality of eye blood vessels NOT_TRANSLATED +HP:0008048 Abnormality of the line of Schwalbe NOT_TRANSLATED +HP:0008050 Abnormality of the opening between the eyelids NOT_TRANSLATED +HP:0008050 Deformity of the palpebral fissures NOT_TRANSLATED +HP:0008050 Malformation of the palpebral fissures NOT_TRANSLATED +HP:0008052 Retinal folds NOT_TRANSLATED +HP:0008053 Absent/small iris NOT_TRANSLATED +HP:0008053 Absent/underdeveloped iris NOT_TRANSLATED +HP:0008054 Abnormal morphology of the conjunctiva vasculature NOT_TRANSLATED +HP:0008054 Abnormal vasculature of the conjunctiva morphology NOT_TRANSLATED +HP:0008054 Abnormality of the vasculature of the conjunctiva NOT_TRANSLATED +HP:0008055 Absent/underdeveloped uvea NOT_TRANSLATED +HP:0008056 Absent/small eye NOT_TRANSLATED +HP:0008056 Absent/underdeveloped eye NOT_TRANSLATED +HP:0008057 Absent/small fundus NOT_TRANSLATED +HP:0008058 Absent/small optic nerve NOT_TRANSLATED +HP:0008058 Absent/underdeveloped optic nerve NOT_TRANSLATED +HP:0008059 Absent/underdeveloped macula NOT_TRANSLATED +HP:0008060 Absent/underdeveloped fovea NOT_TRANSLATED +HP:0008061 Absent/small retina NOT_TRANSLATED +HP:0008061 Absent/underdeveloped retina NOT_TRANSLATED +HP:0008063 Absent/small lens NOT_TRANSLATED +HP:0008063 Absent/underdeveloped lens NOT_TRANSLATED +HP:0008064 Hypertrophic ichthyosis NOT_TRANSLATED +HP:0008064 Ichthyosiform abnormality of the skin NOT_TRANSLATED +HP:0008064 Ichthyotic skin NOT_TRANSLATED +HP:0008065 Absent/small skin NOT_TRANSLATED +HP:0008065 Absent/underdeveloped skin NOT_TRANSLATED +HP:0008066 Blister NOT_TRANSLATED +HP:0008066 Blistering, generalised NOT_TRANSLATED +HP:0008066 Blistering, generalized NOT_TRANSLATED +HP:0008066 Blisters NOT_TRANSLATED +HP:0008066 Skin blisters NOT_TRANSLATED +HP:0008066 Skin bullae NOT_TRANSLATED +HP:0008067 Abnormally loose or hyperelastic skin NOT_TRANSLATED +HP:0008067 Abnormally loose or stretchable skin NOT_TRANSLATED +HP:0008069 Dermatological tumors NOT_TRANSLATED +HP:0008069 Dermatological tumours NOT_TRANSLATED +HP:0008069 Neoplasia of the skin NOT_TRANSLATED +HP:0008069 Skin cancer NOT_TRANSLATED +HP:0008069 Skin cancer (non-melanoma) NOT_TRANSLATED +HP:0008069 Skin tumors NOT_TRANSLATED +HP:0008069 Skin tumours NOT_TRANSLATED +HP:0008069 Tumor of the skin NOT_TRANSLATED +HP:0008069 Tumour of the skin NOT_TRANSLATED +HP:0008070 Decreased hair growth NOT_TRANSLATED +HP:0008070 Decreased hair growth on body NOT_TRANSLATED +HP:0008070 Hypotrichosis NOT_TRANSLATED +HP:0008070 Marked hypotrichosis NOT_TRANSLATED +HP:0008070 Sparse hair since birth NOT_TRANSLATED +HP:0008070 Thin, sparse hair NOT_TRANSLATED +HP:0008073 Low maternal serum estriol NOT_TRANSLATED +HP:0008079 Absent 5th long bone of foot NOT_TRANSLATED +HP:0008079 Absent 5th metatarsals NOT_TRANSLATED +HP:0008079 Aplasia of the fifth metatarsal bone NOT_TRANSLATED +HP:0008080 Medially deviated halluces NOT_TRANSLATED +HP:0008081 Valgus foot deformity NOT_TRANSLATED +HP:0008083 Underdeveloped 2nd-5th middle toe bones NOT_TRANSLATED +HP:0008089 Abnormality of the 5th long bone of foot NOT_TRANSLATED +HP:0008093 Short fourth toe NOT_TRANSLATED +HP:0008095 Osteolysis of tali NOT_TRANSLATED +HP:0008103 Delayed ankle bone maturation NOT_TRANSLATED +HP:0008103 Tarsal delayed ossification NOT_TRANSLATED +HP:0008108 Accelerated ankle bone maturation NOT_TRANSLATED +HP:0008108 Precociously ossified tarsal bones NOT_TRANSLATED +HP:0008111 Broad distal big toe NOT_TRANSLATED +HP:0008115 3rd toe clinodactyly NOT_TRANSLATED +HP:0008115 Curvature of 3rd toe NOT_TRANSLATED +HP:0008119 Deformed ankle bones NOT_TRANSLATED +HP:0008127 Delayed coalescence of bipartite calcanei NOT_TRANSLATED +HP:0008127 Delayed coalescence of calcaneal ossification centers NOT_TRANSLATED +HP:0008127 Delayed coalescence of calcaneal ossification centres NOT_TRANSLATED +HP:0008127 Delayed fusion of bipartite calcanei NOT_TRANSLATED +HP:0008127 Double calcaneal ossification center NOT_TRANSLATED +HP:0008127 Double calcaneal ossification centre NOT_TRANSLATED +HP:0008127 Extra calcaneal ossification center NOT_TRANSLATED +HP:0008127 Extra calcaneal ossification centre NOT_TRANSLATED +HP:0008131 Punctate calcifications of tarsals NOT_TRANSLATED +HP:0008131 Punctate tarsal calcification NOT_TRANSLATED +HP:0008134 Irregular ankle bone maturation NOT_TRANSLATED +HP:0008134 Irregular tarsal centers NOT_TRANSLATED +HP:0008134 Irregular tarsal centres NOT_TRANSLATED +HP:0008138 Equinus deformity of the calcaneus NOT_TRANSLATED +HP:0008138 Hindfoot equinus NOT_TRANSLATED +HP:0008142 Delayed heel bone maturation NOT_TRANSLATED +HP:0008151 Increased INR NOT_TRANSLATED +HP:0008151 Increased international normalised ratio NOT_TRANSLATED +HP:0008151 Increased international normalized ratio NOT_TRANSLATED +HP:0008151 Low factor II activity NOT_TRANSLATED +HP:0008151 Prolonged PT NOT_TRANSLATED +HP:0008151 Reduced factor II activity NOT_TRANSLATED +HP:0008151 Reduced prothrombin activity NOT_TRANSLATED +HP:0008151 increased international normalised ratio NOT_TRANSLATED +HP:0008153 Hypokalemic periodic paresis NOT_TRANSLATED +HP:0008161 Absent leukocyte ALP NOT_TRANSLATED +HP:0008162 Hyperammonemia, asymptomatic NOT_TRANSLATED +HP:0008163 Decreased cortisol production NOT_TRANSLATED +HP:0008163 Glucocorticoid insufficiency NOT_TRANSLATED +HP:0008163 Hypocortisolemia NOT_TRANSLATED +HP:0008163 Hypocortisolism NOT_TRANSLATED +HP:0008163 Low blood cortisol level NOT_TRANSLATED +HP:0008163 Low to undetectable plasma cortisol NOT_TRANSLATED +HP:0008163 Plasma cortisol low NOT_TRANSLATED +HP:0008165 Decreased proportion circulating T-helper cells NOT_TRANSLATED +HP:0008165 Reduced helper T cell proportion NOT_TRANSLATED +HP:0008166 Beta-galactosidase deficiency in fibroblasts and white blood cells NOT_TRANSLATED +HP:0008166 Beta-galactosidase-1 deficiency NOT_TRANSLATED +HP:0008166 Decreased beta galactosidase activity NOT_TRANSLATED +HP:0008169 Factor VII deficiency NOT_TRANSLATED +HP:0008179 Decreased Arden ratio of EOG NOT_TRANSLATED +HP:0008180 Mildly elevated CPK NOT_TRANSLATED +HP:0008180 Mildly elevated creatine phosphokinase NOT_TRANSLATED +HP:0008180 Mildly elevated serum CK NOT_TRANSLATED +HP:0008180 Mildly elevated serum CPK NOT_TRANSLATED +HP:0008180 Mildly elevated serum phospho-CK NOT_TRANSLATED +HP:0008180 Mildly increased creatine kinase NOT_TRANSLATED +HP:0008180 Mildly increased serum creatine kinase NOT_TRANSLATED +HP:0008180 Moderately elevated serum CK NOT_TRANSLATED +HP:0008180 Moderately elevated serum CPK NOT_TRANSLATED +HP:0008180 Moderately increased serum creatine kinase NOT_TRANSLATED +HP:0008182 Small adrenal cortex NOT_TRANSLATED +HP:0008185 Early onset of puberty in males NOT_TRANSLATED +HP:0008185 Male precocious puberty NOT_TRANSLATED +HP:0008187 No secondary sexual characteristics at puberty NOT_TRANSLATED +HP:0008188 Thyroid dysplasia NOT_TRANSLATED +HP:0008191 Athyroidal hypothyroidism NOT_TRANSLATED +HP:0008198 Neonatal hypoparathyroidism NOT_TRANSLATED +HP:0008202 Prolactin deficiency NOT_TRANSLATED +HP:0008204 Precocious puberty with Sertoli cell tumour NOT_TRANSLATED +HP:0008207 Addison disease NOT_TRANSLATED +HP:0008207 Addison's disease NOT_TRANSLATED +HP:0008207 Adrenocortical insufficiency NOT_TRANSLATED +HP:0008207 Primary adrenocortical failure NOT_TRANSLATED +HP:0008208 Enlarged parathyroid glands NOT_TRANSLATED +HP:0008209 Climacterium praecox NOT_TRANSLATED +HP:0008209 Early menopause NOT_TRANSLATED +HP:0008209 Hypergonadotropic amenorrhea NOT_TRANSLATED +HP:0008209 Menopause praecox NOT_TRANSLATED +HP:0008209 Premature menopause NOT_TRANSLATED +HP:0008209 Premature ovarian failure NOT_TRANSLATED +HP:0008209 Primary ovarian insufficiency NOT_TRANSLATED +HP:0008211 Parathyroid absence NOT_TRANSLATED +HP:0008211 Parathyroid aplasia NOT_TRANSLATED +HP:0008213 Pituitary gonadotropin deficiency NOT_TRANSLATED +HP:0008216 Adrenal gland dysplasia NOT_TRANSLATED +HP:0008216 Dysplastic adrenal glands NOT_TRANSLATED +HP:0008221 Enlarged adrenal glands NOT_TRANSLATED +HP:0008223 Mild hypothyroidism NOT_TRANSLATED +HP:0008223 Subclinical hypothyroidism NOT_TRANSLATED +HP:0008226 Hypoandrogenism NOT_TRANSLATED +HP:0008229 Thyroid lymphangiectasis NOT_TRANSLATED +HP:0008232 Elevated FSH level NOT_TRANSLATED +HP:0008232 Elevated follicle stimulating hormone NOT_TRANSLATED +HP:0008232 Elevated follicle-stimulating hormone NOT_TRANSLATED +HP:0008232 Elevated plasma follicle stimulating hormone NOT_TRANSLATED +HP:0008232 Increased circulating follicle stimulating hormone level NOT_TRANSLATED +HP:0008233 Decreased serum progesterone NOT_TRANSLATED +HP:0008237 Tertiary hypothyroidism NOT_TRANSLATED +HP:0008239 Small adrenal medulla NOT_TRANSLATED +HP:0008244 Congenital adrenal gland hypoplasia NOT_TRANSLATED +HP:0008245 Low thyroid gland function due to abnormal pituitary gland NOT_TRANSLATED +HP:0008245 Secondary hypothyroidism NOT_TRANSLATED +HP:0008245 TSH deficient hypothyroidism NOT_TRANSLATED +HP:0008245 Thyroid stimulating hormone deficiency NOT_TRANSLATED +HP:0008245 Thyrotropin deficiency NOT_TRANSLATED +HP:0008247 Asymptomatic hyperthyroxinemia NOT_TRANSLATED +HP:0008249 Large thyroid NOT_TRANSLATED +HP:0008251 Congenital goitre NOT_TRANSLATED +HP:0008256 Adrenocortical adenomas NOT_TRANSLATED +HP:0008259 ACTH receptor defect NOT_TRANSLATED +HP:0008259 ACTHR defect NOT_TRANSLATED +HP:0008259 Adrenocorticotropic hormone-resistant adrenal insufficiency NOT_TRANSLATED +HP:0008271 Abnormal hyaline collagen NOT_TRANSLATED +HP:0008271 Abnormal type II collagen NOT_TRANSLATED +HP:0008275 Abnormal cone-mediated electroretinogram NOT_TRANSLATED +HP:0008277 Abnormal zinc metabolism NOT_TRANSLATED +HP:0008277 Abnormality of zinc homeostasis NOT_TRANSLATED +HP:0008278 Cerebellar cortex degeneration NOT_TRANSLATED +HP:0008281 Hyperammonemia, acute NOT_TRANSLATED +HP:0008283 High blood insulin levels while fasting NOT_TRANSLATED +HP:0008291 ACTH-producing pituitary adenoma NOT_TRANSLATED +HP:0008291 Corticotropin-secreting pituitary adenoma NOT_TRANSLATED +HP:0008301 Dermatan sulphate excretion in urine NOT_TRANSLATED +HP:0008305 Exercise-induced myoglobinuria in adults NOT_TRANSLATED +HP:0008314 Respiratory complex II deficiency NOT_TRANSLATED +HP:0008316 Abnormal mitochondria in muscle NOT_TRANSLATED +HP:0008318 Elevated leukocyte ALP NOT_TRANSLATED +HP:0008321 Decreased factor x activity NOT_TRANSLATED +HP:0008321 Factor X deficiency NOT_TRANSLATED +HP:0008322 Abnormal mitochondrion morphology NOT_TRANSLATED +HP:0008323 Abnormal rod and cone electroretinogram NOT_TRANSLATED +HP:0008326 Reduced vitamin b6 levels NOT_TRANSLATED +HP:0008326 Vitamin B6 deficiency NOT_TRANSLATED +HP:0008330 Decreased von willebrand factor activity NOT_TRANSLATED +HP:0008331 Elevated CK after exercise NOT_TRANSLATED +HP:0008331 Elevated CPK after exercise NOT_TRANSLATED +HP:0008331 Elevated creatine phosphokinase after exercise NOT_TRANSLATED +HP:0008331 Elevated phospho-CK after exercise NOT_TRANSLATED +HP:0008331 Elevated phospho-creatine kinase after exercise NOT_TRANSLATED +HP:0008331 Increased CK after exercise NOT_TRANSLATED +HP:0008331 Increased creatine kinase after exercise NOT_TRANSLATED +HP:0008331 Increased creatine phosphokinase after exercise NOT_TRANSLATED +HP:0008331 Increased phospho-CK after exercise NOT_TRANSLATED +HP:0008331 Increased phospho-creatine kinase after exercise NOT_TRANSLATED +HP:0008338 Partial functional adipsin deficiency NOT_TRANSLATED +HP:0008338 Partial functional factor d deficiency NOT_TRANSLATED +HP:0008341 Renal tubular acidosis, type I NOT_TRANSLATED +HP:0008345 Hypoplasia of the pupil dilator muscle NOT_TRANSLATED +HP:0008345 Underdeveloped iris dilator muscle NOT_TRANSLATED +HP:0008345 Underdeveloped pupil dilator muscle NOT_TRANSLATED +HP:0008346 Increased sickling of erythrocytes NOT_TRANSLATED +HP:0008346 Increased sickling of red cells NOT_TRANSLATED +HP:0008347 Respiratory complex IV deficiency NOT_TRANSLATED +HP:0008348 Decreased IgG2 level in blood NOT_TRANSLATED +HP:0008348 Immunoglobulin IgG2 deficiency NOT_TRANSLATED +HP:0008348 Reduced IgG2 levels NOT_TRANSLATED +HP:0008352 Impaired thrombocytes adhesion NOT_TRANSLATED +HP:0008358 Prolinemia NOT_TRANSLATED +HP:0008362 Absent/small big toe NOT_TRANSLATED +HP:0008362 Absent/underdeveloped big toe NOT_TRANSLATED +HP:0008362 Aplastic/hypoplastic halluces NOT_TRANSLATED +HP:0008363 Absent/small ankle bone NOT_TRANSLATED +HP:0008363 Absent/underdeveloped ankle bone NOT_TRANSLATED +HP:0008363 Aplastic/hypoplastic tarsals NOT_TRANSLATED +HP:0008364 Abnormal heel bone NOT_TRANSLATED +HP:0008365 Abnormal large bone of ankle NOT_TRANSLATED +HP:0008366 Contractures involving the joints of the feet NOT_TRANSLATED +HP:0008366 Contractures of the foot joints NOT_TRANSLATED +HP:0008366 Joint contractures involving the joints of the feet NOT_TRANSLATED +HP:0008368 Fused ankle bones NOT_TRANSLATED +HP:0008368 Synostosis involving tarsal bones NOT_TRANSLATED +HP:0008368 Synostosis of tarsal bones NOT_TRANSLATED +HP:0008368 Tarsal bone fusion NOT_TRANSLATED +HP:0008368 Tarsal bone synostosis NOT_TRANSLATED +HP:0008368 Tarsal fusion NOT_TRANSLATED +HP:0008368 Tarsal fusions NOT_TRANSLATED +HP:0008369 Abnormal maturation of ankle bones NOT_TRANSLATED +HP:0008369 Abnormal ossification of tarsal bones NOT_TRANSLATED +HP:0008369 Hardening of ankle bones NOT_TRANSLATED +HP:0008371 Abnormal maturation of long bone of foot NOT_TRANSLATED +HP:0008371 Abnormal ossification involving metatarsal bones NOT_TRANSLATED +HP:0008376 Breathy speech NOT_TRANSLATED +HP:0008386 Absent/hypoplastic nails NOT_TRANSLATED +HP:0008386 Absent/small nails NOT_TRANSLATED +HP:0008386 Absent/underdeveloped nails NOT_TRANSLATED +HP:0008386 Nail aplasia/hypoplasia NOT_TRANSLATED +HP:0008388 Abnormality of the toenail NOT_TRANSLATED +HP:0008388 Abnormality of the toenails NOT_TRANSLATED +HP:0008390 Recurrent shedding of toenails and fingernails NOT_TRANSLATED +HP:0008391 Poor fingernail formation NOT_TRANSLATED +HP:0008392 Thickened, discolored skin under nail NOT_TRANSLATED +HP:0008392 Thickened, discoloured skin under nail NOT_TRANSLATED +HP:0008394 Congenital malformed nails NOT_TRANSLATED +HP:0008398 Underdeveloped fifth fingernail NOT_TRANSLATED +HP:0008398 Underdeveloped fingernail of little finger NOT_TRANSLATED +HP:0008398 Underdeveloped fingernail of pinkie finger NOT_TRANSLATED +HP:0008398 Underdeveloped fingernail of pinky finger NOT_TRANSLATED +HP:0008399 Thick skin around nails NOT_TRANSLATED +HP:0008400 Detachment of outermost fingernails NOT_TRANSLATED +HP:0008401 Overgrowth and curving of toenails NOT_TRANSLATED +HP:0008402 Longitudinally grooved fingernails NOT_TRANSLATED +HP:0008402 Ridged fingernails NOT_TRANSLATED +HP:0008404 Dystrophic nails NOT_TRANSLATED +HP:0008404 Onychodystrophy NOT_TRANSLATED +HP:0008404 Poor nail formation NOT_TRANSLATED +HP:0008407 Tightly curved thumb nail NOT_TRANSLATED +HP:0008414 Hunched back in infancy NOT_TRANSLATED +HP:0008414 Round back in infancy NOT_TRANSLATED +HP:0008417 Underdeveloped vertebrae NOT_TRANSLATED +HP:0008419 Degeneration of intervertebral discs NOT_TRANSLATED +HP:0008419 Degeneration of intervertebral disks NOT_TRANSLATED +HP:0008419 Degenerative disc disease NOT_TRANSLATED +HP:0008419 Degenerative intervertebral disc NOT_TRANSLATED +HP:0008419 Degenerative intervertebral disk NOT_TRANSLATED +HP:0008422 Wedge-shaped vertebrae NOT_TRANSLATED +HP:0008422 Wedged vertebrae NOT_TRANSLATED +HP:0008422 anterior wedging NOT_TRANSLATED +HP:0008424 Underdeveloped 5th lumbar vertebrae NOT_TRANSLATED +HP:0008428 Vertebral clefts NOT_TRANSLATED +HP:0008430 Anterior tongue-like protrusion of lumbar vertebral bodies NOT_TRANSLATED +HP:0008434 Cervical vertebrae hypoplasia NOT_TRANSLATED +HP:0008434 Underdeveloped cervical vertebrae NOT_TRANSLATED +HP:0008436 Absent/small tailbone NOT_TRANSLATED +HP:0008436 Absent/underdeveloped tailbone NOT_TRANSLATED +HP:0008438 Vertebral arch abnormalities NOT_TRANSLATED +HP:0008441 Herniated disc NOT_TRANSLATED +HP:0008441 Herniated disk NOT_TRANSLATED +HP:0008441 Herniated intervertebral nuclei NOT_TRANSLATED +HP:0008443 Charcot spinal arthropathy NOT_TRANSLATED +HP:0008443 Spinal deformities NOT_TRANSLATED +HP:0008443 Spinal neuroarthropathy NOT_TRANSLATED +HP:0008444 Posterior wedging NOT_TRANSLATED +HP:0008445 Narrow cervical spinal canal NOT_TRANSLATED +HP:0008450 Interpedicular narrowing NOT_TRANSLATED +HP:0008450 Narrow interpedicular space NOT_TRANSLATED +HP:0008450 Narrow interpediculate distances NOT_TRANSLATED +HP:0008450 Narrowing of interpediculate distances NOT_TRANSLATED +HP:0008454 Lumbar gibbus deformity NOT_TRANSLATED +HP:0008454 Rounded lower back NOT_TRANSLATED +HP:0008455 Absence of some of the sacral and coccygeal bones NOT_TRANSLATED +HP:0008455 Partial sacral agenesis NOT_TRANSLATED +HP:0008455 Sacral dysgenesis NOT_TRANSLATED +HP:0008457 Caudal narrowing of interpedicular distances NOT_TRANSLATED +HP:0008459 Cervical vertebrae agenesis NOT_TRANSLATED +HP:0008459 Missing cervical vertebrae NOT_TRANSLATED +HP:0008460 Underdeveloped spinal processes NOT_TRANSLATED +HP:0008465 Absent vertebrae NOT_TRANSLATED +HP:0008467 Midthoracic hemivertebrae NOT_TRANSLATED +HP:0008470 Narrowness of interpediculate distances in lower thoracic regions NOT_TRANSLATED +HP:0008472 Large tailbone NOT_TRANSLATED +HP:0008472 Prominent protruding tailbone NOT_TRANSLATED +HP:0008473 Reduced anterior-posterior diameter of vertebral bodies NOT_TRANSLATED +HP:0008473 Reduced sagittal diameter of vertebrae NOT_TRANSLATED +HP:0008476 irregular, dense end plate NOT_TRANSLATED +HP:0008479 Small vertebrae NOT_TRANSLATED +HP:0008479 Small vertebral bodies NOT_TRANSLATED +HP:0008479 Underdeveloped back bones NOT_TRANSLATED +HP:0008480 Cervical osteoarthritis NOT_TRANSLATED +HP:0008480 Cervical spine degeneration NOT_TRANSLATED +HP:0008480 Neck arthritis NOT_TRANSLATED +HP:0008484 Narrow thoracolumbar interpediculate distance NOT_TRANSLATED +HP:0008486 Decreasing lumbar vertebrae interpediculate distance NOT_TRANSLATED +HP:0008489 Spondylolysis and spondylolisthesis of l5 NOT_TRANSLATED +HP:0008494 Inferior subluxated lens NOT_TRANSLATED +HP:0008496 Double row of eyelashes NOT_TRANSLATED +HP:0008496 Extra rows of eyelashes NOT_TRANSLATED +HP:0008496 Two rows of eyelashes NOT_TRANSLATED +HP:0008498 Absence of adult teeth NOT_TRANSLATED +HP:0008498 Absence of secondary dentition NOT_TRANSLATED +HP:0008498 Missing adult teeth NOT_TRANSLATED +HP:0008498 No adult dentition NOT_TRANSLATED +HP:0008498 No secondary dentition NOT_TRANSLATED +HP:0008499 High hyperopia NOT_TRANSLATED +HP:0008499 High-grade hypermetropia NOT_TRANSLATED +HP:0008499 Severe farsightedness NOT_TRANSLATED +HP:0008499 Severe long-sightedness NOT_TRANSLATED +HP:0008501 Central cleft lip and palate NOT_TRANSLATED +HP:0008501 Medial cleft lip and palate NOT_TRANSLATED +HP:0008501 Midline cleft lip/palate NOT_TRANSLATED +HP:0008501 Wide midline cleft lip/palate NOT_TRANSLATED +HP:0008504 Moderate neural deafness NOT_TRANSLATED +HP:0008513 Bilateral conductive deafness NOT_TRANSLATED +HP:0008513 Bilateral conductive hearing loss NOT_TRANSLATED +HP:0008515 Absent/small vertebrae NOT_TRANSLATED +HP:0008515 Absent/underdeveloped vertebrae NOT_TRANSLATED +HP:0008517 Absent/small sacrum NOT_TRANSLATED +HP:0008517 Absent/underdeveloped sacrum NOT_TRANSLATED +HP:0008518 Absent/small backbone NOT_TRANSLATED +HP:0008518 Absent/small spine NOT_TRANSLATED +HP:0008518 Absent/small vertebral column NOT_TRANSLATED +HP:0008518 Absent/underdeveloped backbone NOT_TRANSLATED +HP:0008518 Absent/underdeveloped spine NOT_TRANSLATED +HP:0008518 Absent/underdeveloped vertebral column NOT_TRANSLATED +HP:0008519 Abnormal tailbone NOT_TRANSLATED +HP:0008519 Abnormality of the coccyx NOT_TRANSLATED +HP:0008523 Ear, posterior helical groove NOT_TRANSLATED +HP:0008523 Ear, posterior helical notch NOT_TRANSLATED +HP:0008523 Helix, posterior pit NOT_TRANSLATED +HP:0008523 Indentation in back of outer ear NOT_TRANSLATED +HP:0008523 Pits in posterior aspect of ear helices NOT_TRANSLATED +HP:0008527 Bilateral congenital sensorineural deafness NOT_TRANSLATED +HP:0008527 Congenital neurosensory deafness NOT_TRANSLATED +HP:0008527 Congenital perceptive deafness NOT_TRANSLATED +HP:0008527 Congenital sensorineural deafness NOT_TRANSLATED +HP:0008527 Congenital sensorineural hearing loss NOT_TRANSLATED +HP:0008527 Hearing loss, congenital sensorineural NOT_TRANSLATED +HP:0008528 Ear hair NOT_TRANSLATED +HP:0008528 Long hairs growing from helix of ear NOT_TRANSLATED +HP:0008529 Absence of acoustic middle ear muscle reflexes NOT_TRANSLATED +HP:0008529 Absent middle ear reflexes NOT_TRANSLATED +HP:0008537 Cleft at the superior portion of the ear NOT_TRANSLATED +HP:0008541 High set ears NOT_TRANSLATED +HP:0008551 Bilateral microtia NOT_TRANSLATED +HP:0008551 Hypoplasia of the external ear NOT_TRANSLATED +HP:0008551 Hypoplastic ears NOT_TRANSLATED +HP:0008551 Hypoplastic pinna NOT_TRANSLATED +HP:0008551 Small ears NOT_TRANSLATED +HP:0008551 Small pinnae NOT_TRANSLATED +HP:0008551 Underdeveloped ears NOT_TRANSLATED +HP:0008559 Underdeveloped superior helices NOT_TRANSLATED +HP:0008568 Vestibular ataxia NOT_TRANSLATED +HP:0008569 Cockleshell ear NOT_TRANSLATED +HP:0008569 Constricted helix type IV NOT_TRANSLATED +HP:0008569 Ear, grade II dysplasia NOT_TRANSLATED +HP:0008569 Mini ear NOT_TRANSLATED +HP:0008569 Severe cupped ear, type III NOT_TRANSLATED +HP:0008569 Shell ear NOT_TRANSLATED +HP:0008569 Snail ear NOT_TRANSLATED +HP:0008573 Low-frequency sensorineural hearing loss NOT_TRANSLATED +HP:0008577 Poorly folded helices NOT_TRANSLATED +HP:0008586 Hypoplastic cochlea NOT_TRANSLATED +HP:0008586 Underdeveloped cochlea NOT_TRANSLATED +HP:0008587 Mild neurosensory hearing loss NOT_TRANSLATED +HP:0008589 Underdeveloped helices NOT_TRANSLATED +HP:0008591 Congenital conductive deafness NOT_TRANSLATED +HP:0008591 Congenital conductive hearing loss NOT_TRANSLATED +HP:0008593 Enlarged antitragus NOT_TRANSLATED +HP:0008593 Hyperplastic antitragus NOT_TRANSLATED +HP:0008593 Hypertrophic antitragus NOT_TRANSLATED +HP:0008598 Conductive hearing loss, mild NOT_TRANSLATED +HP:0008605 Deformed external ear on one side NOT_TRANSLATED +HP:0008606 Pit above the ear NOT_TRANSLATED +HP:0008606 Supraauricular fistula NOT_TRANSLATED +HP:0008606 Supraauricular sinus NOT_TRANSLATED +HP:0008606 Supraauricular sinuses NOT_TRANSLATED +HP:0008607 Progressive conductive deafness NOT_TRANSLATED +HP:0008609 Middle ear malformation NOT_TRANSLATED +HP:0008610 Infantile sensorineural hearing loss NOT_TRANSLATED +HP:0008615 Late sensorineural hearing loss NOT_TRANSLATED +HP:0008615 Sensorineural deafness, late-onset NOT_TRANSLATED +HP:0008619 Bilateral nerve deafness NOT_TRANSLATED +HP:0008619 Bilateral sensorineural deafness NOT_TRANSLATED +HP:0008619 Bilateral sensorineural hearing loss NOT_TRANSLATED +HP:0008619 Hearing loss, sensorineural, bilateral NOT_TRANSLATED +HP:0008625 Severe sensorineural deafness NOT_TRANSLATED +HP:0008625 Severe sensorineural hearing loss NOT_TRANSLATED +HP:0008628 Stapedial abnormalities NOT_TRANSLATED +HP:0008633 Absent gonadal tissue NOT_TRANSLATED +HP:0008633 Gonadal agenesis NOT_TRANSLATED +HP:0008635 Hypertrophic urinary bladder NOT_TRANSLATED +HP:0008639 Underdeveloped gonad NOT_TRANSLATED +HP:0008652 Impotence due to autonomic dysfunction NOT_TRANSLATED +HP:0008655 Absent or rudimentary fallopian tubes NOT_TRANSLATED +HP:0008655 Absent/small fallopian tube NOT_TRANSLATED +HP:0008655 Absent/underdeveloped fallopian tube NOT_TRANSLATED +HP:0008659 Medullary cystic disease NOT_TRANSLATED +HP:0008659 Medullary sponge kidney disease NOT_TRANSLATED +HP:0008660 Renal tubular dysgenesis NOT_TRANSLATED +HP:0008661 Narrowing of the urethra NOT_TRANSLATED +HP:0008665 Clitoral enlargement NOT_TRANSLATED +HP:0008665 Clitoromegaly NOT_TRANSLATED +HP:0008665 Enlarged clitoris NOT_TRANSLATED +HP:0008665 Hypertrophic clitoris NOT_TRANSLATED +HP:0008665 Prominent clitoris NOT_TRANSLATED +HP:0008668 46,xy gonadal dysgenesis NOT_TRANSLATED +HP:0008669 Abnormal sperm development NOT_TRANSLATED +HP:0008669 Impaired spermatogenesis NOT_TRANSLATED +HP:0008672 Ca oxalate kidney stone NOT_TRANSLATED +HP:0008672 Ca oxalate nephrolithiasis NOT_TRANSLATED +HP:0008672 Ca oxalate urolithiasis NOT_TRANSLATED +HP:0008672 Ca2+ oxalate kidney stone NOT_TRANSLATED +HP:0008672 Ca2+ oxalate nephrolithiasis NOT_TRANSLATED +HP:0008672 Ca2+ oxalate urolithiasis NOT_TRANSLATED +HP:0008672 Calcium oxalate kidney stones NOT_TRANSLATED +HP:0008672 Calcium oxalate urolithiasis NOT_TRANSLATED +HP:0008672 Oxalate nephrolithiasis NOT_TRANSLATED +HP:0008675 Enlarged ovaries with cysts NOT_TRANSLATED +HP:0008676 Congenital megaloureter NOT_TRANSLATED +HP:0008677 Congenital nephrosis NOT_TRANSLATED +HP:0008678 Absent/small kidney NOT_TRANSLATED +HP:0008678 Absent/underdeveloped kidney NOT_TRANSLATED +HP:0008678 Renal agenesis/hypoplasia NOT_TRANSLATED +HP:0008678 Renal aplasia/hypoplasia NOT_TRANSLATED +HP:0008682 Acute tubular necrosis NOT_TRANSLATED +HP:0008682 Renal tubular necrosis NOT_TRANSLATED +HP:0008683 Hypertrophic labia minora NOT_TRANSLATED +HP:0008683 Labia minora hypertrophy NOT_TRANSLATED +HP:0008684 Absent/small uterus NOT_TRANSLATED +HP:0008684 Absent/underdeveloped uterus NOT_TRANSLATED +HP:0008687 Hypoplastic prostate NOT_TRANSLATED +HP:0008687 Underdeveloped prostate NOT_TRANSLATED +HP:0008689 Cryptorchidism, bilateral NOT_TRANSLATED +HP:0008695 Transient nephrosis NOT_TRANSLATED +HP:0008697 Rudimentary fallopian tubes NOT_TRANSLATED +HP:0008697 Underdeveloped fallopian tube NOT_TRANSLATED +HP:0008711 Benign prostatic hypertrophy NOT_TRANSLATED +HP:0008716 Urethrovaginal fistulae NOT_TRANSLATED +HP:0008717 Kidney degeneration on one side NOT_TRANSLATED +HP:0008717 Unilateral kidney wasting NOT_TRANSLATED +HP:0008723 Xy female gonadal dysgenesis NOT_TRANSLATED +HP:0008724 Hypoplastic ovary NOT_TRANSLATED +HP:0008724 Underdeveloped ovary NOT_TRANSLATED +HP:0008726 Hypoplastic vagina NOT_TRANSLATED +HP:0008726 Rudimentary vagina NOT_TRANSLATED +HP:0008726 Underdeveloped vagina NOT_TRANSLATED +HP:0008729 Absent vaginal lips NOT_TRANSLATED +HP:0008730 Males with female external genitalia NOT_TRANSLATED +HP:0008734 Hypoplastic testes NOT_TRANSLATED +HP:0008734 Small testes NOT_TRANSLATED +HP:0008734 Small testis NOT_TRANSLATED +HP:0008734 Testicular hypoplasia NOT_TRANSLATED +HP:0008736 Underdeveloped penis NOT_TRANSLATED +HP:0008740 Vertical vaginal septum NOT_TRANSLATED +HP:0008743 Subcoronal hypospadias NOT_TRANSLATED +HP:0008744 Abnormal aryepiglottic folds NOT_TRANSLATED +HP:0008744 Abnormality of the aryepiglottic fold NOT_TRANSLATED +HP:0008749 Hypoplastic larynx NOT_TRANSLATED +HP:0008751 Laryngotracheal cleft NOT_TRANSLATED +HP:0008751 Laryngotracheoesophageal cleft i NOT_TRANSLATED +HP:0008752 Vocal impairment, severe, due to laryngeal cartilage abnormalities NOT_TRANSLATED +HP:0008753 Absent epiglottis NOT_TRANSLATED +HP:0008754 Laryngeal calcifications NOT_TRANSLATED +HP:0008757 Unilateral paralysis of the vocal cord NOT_TRANSLATED +HP:0008760 Violent behaviour NOT_TRANSLATED +HP:0008762 Repetitive compulsive behaviour NOT_TRANSLATED +HP:0008765 Hallucinations of sound NOT_TRANSLATED +HP:0008765 Hearing sounds NOT_TRANSLATED +HP:0008768 Inappropriate sexual behaviour NOT_TRANSLATED +HP:0008770 Obsessive-compulsive traits NOT_TRANSLATED +HP:0008771 Absent/small ear NOT_TRANSLATED +HP:0008771 Absent/underdeveloped ear NOT_TRANSLATED +HP:0008772 Absent/small external ear NOT_TRANSLATED +HP:0008772 Absent/underdeveloped external ear NOT_TRANSLATED +HP:0008773 Absent/small middle ear NOT_TRANSLATED +HP:0008773 Absent/underdeveloped middle ear NOT_TRANSLATED +HP:0008773 Hypoplastic/aplastic middle ear structures NOT_TRANSLATED +HP:0008773 Middle ear hypoplasia/aplasia NOT_TRANSLATED +HP:0008774 Absent/small inner ear NOT_TRANSLATED +HP:0008774 Absent/underdeveloped inner ear NOT_TRANSLATED +HP:0008775 Abnormality of the prostate NOT_TRANSLATED +HP:0008776 Abnormal kidney artery NOT_TRANSLATED +HP:0008776 Abnormality of the renal artery NOT_TRANSLATED +HP:0008777 Abnormality of the vocal cords NOT_TRANSLATED +HP:0008783 Wide metaphysis of innermost thighbone NOT_TRANSLATED +HP:0008784 Wide end part of innermost thighbone NOT_TRANSLATED +HP:0008786 Irregular lacy iliac crest NOT_TRANSLATED +HP:0008786 Lacy appearance of iliac crest NOT_TRANSLATED +HP:0008788 Absent pubic ossification in infancy NOT_TRANSLATED +HP:0008788 Delayed maturation fo pubic bone NOT_TRANSLATED +HP:0008788 Delayed mineralization of pubic bone NOT_TRANSLATED +HP:0008789 Cone-shaped end part of innermost thighbone NOT_TRANSLATED +HP:0008794 Dysplastic iliac wings NOT_TRANSLATED +HP:0008796 Decreased femoral torsion NOT_TRANSLATED +HP:0008796 Externally rotated hips NOT_TRANSLATED +HP:0008798 Widened sacrosciatic notch NOT_TRANSLATED +HP:0008798 Widening of the sacrosciatic notch NOT_TRANSLATED +HP:0008801 Lesser trochanter hypoplasia NOT_TRANSLATED +HP:0008802 Hypoplastic femoral head NOT_TRANSLATED +HP:0008802 Small femoral heads NOT_TRANSLATED +HP:0008802 Small head of thigh bone NOT_TRANSLATED +HP:0008804 Wide head of thigh bone NOT_TRANSLATED +HP:0008807 Dysplastic acetabulae NOT_TRANSLATED +HP:0008808 High iliac wings NOT_TRANSLATED +HP:0008808 Narrow, high iliac wings NOT_TRANSLATED +HP:0008812 Flat head of thigh bone NOT_TRANSLATED +HP:0008812 Flattened femoral heads NOT_TRANSLATED +HP:0008817 Absent pubic bones NOT_TRANSLATED +HP:0008818 Large iliac wings NOT_TRANSLATED +HP:0008819 Narrow femoral necks NOT_TRANSLATED +HP:0008819 Narrow neck of thigh bone NOT_TRANSLATED +HP:0008820 Absent ossification of femoral capital epiphyses NOT_TRANSLATED +HP:0008824 Hypoplastic iliac bodies NOT_TRANSLATED +HP:0008824 Small iliac bodies NOT_TRANSLATED +HP:0008826 Dislocated femoral heads NOT_TRANSLATED +HP:0008826 Dislocated head of thigh bone NOT_TRANSLATED +HP:0008828 Delayed ossification of the proximal femoral epiphysis NOT_TRANSLATED +HP:0008828 Delayed ossification proximal femoral epiphyses NOT_TRANSLATED +HP:0008829 Delayed maturation of the head of the thigh bone NOT_TRANSLATED +HP:0008838 Speckled calcifications in end part of innermost long bone of upper arm NOT_TRANSLATED +HP:0008839 Hypoplastic pelvic bones NOT_TRANSLATED +HP:0008839 Small pelvis NOT_TRANSLATED +HP:0008843 Osteoarthritis of hip NOT_TRANSLATED +HP:0008845 Dwarfism, short limb mesomelic NOT_TRANSLATED +HP:0008845 Mesomelic dwarfism NOT_TRANSLATED +HP:0008845 Short stature, disproportionate mesomelic NOT_TRANSLATED +HP:0008845 Short stature, mesomelic NOT_TRANSLATED +HP:0008846 Intrauterine growth retardation, severe NOT_TRANSLATED +HP:0008846 Severe prenatal growth deficiency NOT_TRANSLATED +HP:0008848 Moderate short stature NOT_TRANSLATED +HP:0008848 Short stature, moderate NOT_TRANSLATED +HP:0008850 Marked growth retardation NOT_TRANSLATED +HP:0008850 Severe growth delay in children NOT_TRANSLATED +HP:0008850 Severe postnatal growth deficiency NOT_TRANSLATED +HP:0008850 Severe postnatal growth failure NOT_TRANSLATED +HP:0008855 Moderate growth delay in children NOT_TRANSLATED +HP:0008857 Short-trunk dwarfism identifiable at birth NOT_TRANSLATED +HP:0008866 Faltering weight secondary to recurrent infections NOT_TRANSLATED +HP:0008866 Weight faltering secondary to recurrent infections NOT_TRANSLATED +HP:0008873 Brachymelic dwarfism NOT_TRANSLATED +HP:0008873 Disproportionate short limb dwarfism NOT_TRANSLATED +HP:0008873 Dwarfism, short-limbed NOT_TRANSLATED +HP:0008873 Micromelic dwarfism NOT_TRANSLATED +HP:0008873 Short limb dwarfism NOT_TRANSLATED +HP:0008873 Short limb dwarfism, disproportionate NOT_TRANSLATED +HP:0008873 Short stature, disproportionate short limb NOT_TRANSLATED +HP:0008873 Short stature, disproportionate short-limb NOT_TRANSLATED +HP:0008873 Short-limb dwarfism NOT_TRANSLATED +HP:0008873 Short-limbed dwarfism NOT_TRANSLATED +HP:0008883 Mild prenatal growth deficiency NOT_TRANSLATED +HP:0008887 Loss of fat tissue NOT_TRANSLATED +HP:0008897 Growth delay as children NOT_TRANSLATED +HP:0008897 Growth retardation as children NOT_TRANSLATED +HP:0008897 Postnatal growth deceleration NOT_TRANSLATED +HP:0008897 Postnatal growth deficiency NOT_TRANSLATED +HP:0008897 Postnatal growth failure NOT_TRANSLATED +HP:0008905 Disproportionately short upper portion of limb NOT_TRANSLATED +HP:0008905 Rhizomelic dwarfism NOT_TRANSLATED +HP:0008905 Rhizomelic limb shortening NOT_TRANSLATED +HP:0008905 Rhizomelic short limbs NOT_TRANSLATED +HP:0008905 Rhizomelic short stature NOT_TRANSLATED +HP:0008905 Rhizomelic shortening NOT_TRANSLATED +HP:0008905 Short stature, rhizomelic NOT_TRANSLATED +HP:0008905 Symmetrical rhizomelic limb shortening NOT_TRANSLATED +HP:0008909 Lethal micromelic dwarfism NOT_TRANSLATED +HP:0008909 Lethal short-limbed dwarfism NOT_TRANSLATED +HP:0008915 Truncal obesity apparent in childhood NOT_TRANSLATED +HP:0008921 Dwarfism, neonatal short-limbed NOT_TRANSLATED +HP:0008921 Neonatal short-limbed dwarfism NOT_TRANSLATED +HP:0008921 Short limb dwarfism recognisable at birth NOT_TRANSLATED +HP:0008921 Short limb dwarfism recognizable at birth NOT_TRANSLATED +HP:0008921 Short-limb dwarfism identifiable at birth NOT_TRANSLATED +HP:0008921 Short-limb dwarfism identifiable neonatally NOT_TRANSLATED +HP:0008921 Short-limbed dwarfism identifiable at birth NOT_TRANSLATED +HP:0008922 Disproportionate short-trunk short stature, identifiable in childhood NOT_TRANSLATED +HP:0008922 Short-trunk dwarfism identifiable during childhood NOT_TRANSLATED +HP:0008935 Generalised low muscle tone in neonate NOT_TRANSLATED +HP:0008935 Generalised neonatal hypotonia NOT_TRANSLATED +HP:0008935 Generalized low muscle tone in neonate NOT_TRANSLATED +HP:0008935 Hypotonia, neonatal, generalised NOT_TRANSLATED +HP:0008935 Hypotonia, neonatal, generalized NOT_TRANSLATED +HP:0008936 Low muscle tone in trunk NOT_TRANSLATED +HP:0008936 Muscular hypotonia of the trunk NOT_TRANSLATED +HP:0008936 Truncal hypotonia NOT_TRANSLATED +HP:0008940 Generalised lymphadenopathy NOT_TRANSLATED +HP:0008940 Generalised swelling of lymph nodes NOT_TRANSLATED +HP:0008940 Generalized swelling of lymph nodes NOT_TRANSLATED +HP:0008940 Swollen lymph nodes affecting all regions of the body NOT_TRANSLATED +HP:0008942 Rhabdomyolysis, acute NOT_TRANSLATED +HP:0008944 Lower leg amyotrophy NOT_TRANSLATED +HP:0008944 Lower limb atrophy NOT_TRANSLATED +HP:0008944 Lower limb degeneration NOT_TRANSLATED +HP:0008944 Lower limb muscle hypotrophy NOT_TRANSLATED +HP:0008944 Muscle atrophy, lower limb, distal NOT_TRANSLATED +HP:0008946 Hip girdle amyotrophy NOT_TRANSLATED +HP:0008947 Decreased muscle tone in infant NOT_TRANSLATED +HP:0008947 Hypotonia early NOT_TRANSLATED +HP:0008947 Hypotonia in infancy NOT_TRANSLATED +HP:0008947 Hypotonia, early NOT_TRANSLATED +HP:0008947 Infantile hypotonia NOT_TRANSLATED +HP:0008948 Proximal muscle atrophy in upper limbs NOT_TRANSLATED +HP:0008948 Proximal upper limb muscle atrophy NOT_TRANSLATED +HP:0008952 Underdeveloped shoulder muscle NOT_TRANSLATED +HP:0008953 Pectoralis major muscle hypoplasia NOT_TRANSLATED +HP:0008956 Amyotrophy involving the thigh NOT_TRANSLATED +HP:0008956 Amyotrophy of the thigh musculature NOT_TRANSLATED +HP:0008956 Proximal lower limb muscle atrophy NOT_TRANSLATED +HP:0008956 Thigh muscle atrophy NOT_TRANSLATED +HP:0008956 Wasting of thigh muscle NOT_TRANSLATED +HP:0008962 Hypoplastic calf muscles NOT_TRANSLATED +HP:0008962 Underdeveloped calf muscles NOT_TRANSLATED +HP:0008967 Muscle stiffness with exercise NOT_TRANSLATED +HP:0008967 Muscle stiffness, exercise-induced NOT_TRANSLATED +HP:0008972 Decreased activities of mitochondrial-encoded respiratory chain complexes NOT_TRANSLATED +HP:0008972 Decreased activity of mitochondrial respiratory complexes NOT_TRANSLATED +HP:0008981 Calf hypertrophy NOT_TRANSLATED +HP:0008981 Increased size of calf muscles NOT_TRANSLATED +HP:0008981 Muscular hypertrophy of the calf muscles NOT_TRANSLATED +HP:0008984 Decreased size of neck muscle NOT_TRANSLATED +HP:0008984 Deficiency of neck muscle NOT_TRANSLATED +HP:0008984 Hypotrophic neck muscle NOT_TRANSLATED +HP:0008984 Small neck muscle NOT_TRANSLATED +HP:0008984 Underdevelopment of neck muscle NOT_TRANSLATED +HP:0008985 Increased IM fat NOT_TRANSLATED +HP:0008986 Absent diaphragm NOT_TRANSLATED +HP:0008986 Agenesis of diaphragm NOT_TRANSLATED +HP:0008988 Pelvic girdle muscle wasting NOT_TRANSLATED +HP:0008994 Muscle weakness, proximal, lower limbs NOT_TRANSLATED +HP:0008998 Hypoplastic pectoral muscle NOT_TRANSLATED +HP:0008998 Small pec muscle NOT_TRANSLATED +HP:0008998 Underdeveloped pec muscle NOT_TRANSLATED +HP:0009002 Loss of fat tissue in trunk NOT_TRANSLATED +HP:0009002 Loss of subcutaneous truncal adipose tissue NOT_TRANSLATED +HP:0009002 Loss of truncal adipose tissue NOT_TRANSLATED +HP:0009003 Increased fat below the skin in trunk NOT_TRANSLATED +HP:0009004 Muscle hypoplasia NOT_TRANSLATED +HP:0009004 Poorly developed skeletal musculature NOT_TRANSLATED +HP:0009004 Underdeveloped muscle NOT_TRANSLATED +HP:0009004 Underdeveloped muscles NOT_TRANSLATED +HP:0009005 Intrinsic hand muscle weakness NOT_TRANSLATED +HP:0009007 Hypoplastic biceps NOT_TRANSLATED +HP:0009007 Underdeveloped biceps NOT_TRANSLATED +HP:0009016 Underdevelopment of upper limb muscles NOT_TRANSLATED +HP:0009017 Loss of fat tissue below the skin in gluts NOT_TRANSLATED +HP:0009019 Atrophy of facial adipose tissue NOT_TRANSLATED +HP:0009019 Facial fat atrophy NOT_TRANSLATED +HP:0009019 Facial fat wasting NOT_TRANSLATED +HP:0009019 Loss of subcutaneous adipose tissue from face, progressive NOT_TRANSLATED +HP:0009019 Progressive loss of facial fat NOT_TRANSLATED +HP:0009019 Progressive loss of facial subcutaneous adipose tissue NOT_TRANSLATED +HP:0009019 Progressive loss of subcutaneous adipose tissue from face NOT_TRANSLATED +HP:0009023 Lax abdominal musculature NOT_TRANSLATED +HP:0009027 Foot drop NOT_TRANSLATED +HP:0009027 Foot extensor weakness NOT_TRANSLATED +HP:0009027 Footdrop NOT_TRANSLATED +HP:0009027 Inability to heel walk NOT_TRANSLATED +HP:0009027 Inability to walk on heels NOT_TRANSLATED +HP:0009028 Generalised weakness of limb muscles NOT_TRANSLATED +HP:0009045 Rhabdomyolysis with exercise NOT_TRANSLATED +HP:0009049 Peroneal atrophy NOT_TRANSLATED +HP:0009050 Wasting of quad muscles NOT_TRANSLATED +HP:0009053 Distal muscle weakness in lower limbs NOT_TRANSLATED +HP:0009053 Muscle weakness, lower limb, distal NOT_TRANSLATED +HP:0009055 Generalised limb muscle atrophy NOT_TRANSLATED +HP:0009055 Generalised muscle atrophy, proximal and distal NOT_TRANSLATED +HP:0009055 Generalised muscle wasting NOT_TRANSLATED +HP:0009055 Generalized muscle atrophy, proximal and distal NOT_TRANSLATED +HP:0009055 Generalized muscle wasting NOT_TRANSLATED +HP:0009056 Loss of fat tissue below the skin from upper limbs NOT_TRANSLATED +HP:0009058 Fat accumulation in muscle fibers NOT_TRANSLATED +HP:0009058 Fat accumulation in muscle fibres NOT_TRANSLATED +HP:0009058 Fat deposits in muscle fibers NOT_TRANSLATED +HP:0009058 Fat deposits in muscle fibres NOT_TRANSLATED +HP:0009058 Lipid accumulation in skeletal muscle NOT_TRANSLATED +HP:0009058 Muscle lipidosis NOT_TRANSLATED +HP:0009058 Skeletal muscle lipid accumulation NOT_TRANSLATED +HP:0009059 Congenital generalised lipodystrophy NOT_TRANSLATED +HP:0009062 Hypotonia, axial, in infancy NOT_TRANSLATED +HP:0009063 Muscle weakness, distal, progressive NOT_TRANSLATED +HP:0009063 Muscle weakness, progressive, distal NOT_TRANSLATED +HP:0009064 Generalised lipodystrophy NOT_TRANSLATED +HP:0009064 Lipodystrophy, generalised NOT_TRANSLATED +HP:0009064 Lipodystrophy, generalized NOT_TRANSLATED +HP:0009067 Progressive spinal muscle degeneration NOT_TRANSLATED +HP:0009067 Progressive spinal muscle wasting NOT_TRANSLATED +HP:0009072 Hyporeflexia at ankle joints NOT_TRANSLATED +HP:0009073 Muscle weakness, progressive, proximal NOT_TRANSLATED +HP:0009084 Midline cleft of maxillary alveolar process NOT_TRANSLATED +HP:0009084 Midline cleft of upper alveolar ridge NOT_TRANSLATED +HP:0009084 Midline notch of maxillary alveolar process NOT_TRANSLATED +HP:0009084 Midline notch of maxillary alveolar ridge NOT_TRANSLATED +HP:0009084 Midline notch of upper gum ridge NOT_TRANSLATED +HP:0009085 Alveolar ridge excess NOT_TRANSLATED +HP:0009085 Enlarged alveolar ridge NOT_TRANSLATED +HP:0009085 Hyperplasia of alveolar process of jaw NOT_TRANSLATED +HP:0009085 Hyperplasia of alveolar ridge NOT_TRANSLATED +HP:0009085 Hypertrophied alveolar ridge NOT_TRANSLATED +HP:0009085 Increased size of alveolar ridge NOT_TRANSLATED +HP:0009085 Increased size of gum ridge NOT_TRANSLATED +HP:0009085 Overgrowth of alveolar ridge NOT_TRANSLATED +HP:0009085 Overgrowth of gum ridge NOT_TRANSLATED +HP:0009085 Thick alveolar ridges NOT_TRANSLATED +HP:0009085 Thickened alveolar ridges NOT_TRANSLATED +HP:0009092 Increasing overgrowth of gum ridge NOT_TRANSLATED +HP:0009092 Increasing size of gum ridge NOT_TRANSLATED +HP:0009092 Progressive hypertrophy of alveolar process of jaw NOT_TRANSLATED +HP:0009094 Cleft of lower alveolar process NOT_TRANSLATED +HP:0009094 Cleft of lower gingiva NOT_TRANSLATED +HP:0009094 Cleft of lower gum ridge NOT_TRANSLATED +HP:0009094 Cleft of mandibular alveolar process NOT_TRANSLATED +HP:0009094 Cleft of mandibular gingiva NOT_TRANSLATED +HP:0009094 Notch of lower alveolar process NOT_TRANSLATED +HP:0009094 Notch of lower alveolar ridge NOT_TRANSLATED +HP:0009094 Notch of lower gum ridge NOT_TRANSLATED +HP:0009094 Notch of mandibular alveolar process NOT_TRANSLATED +HP:0009094 Notch of mandibular alveolar ridge NOT_TRANSLATED +HP:0009098 Chronic oral thrush NOT_TRANSLATED +HP:0009099 Central cleft palate NOT_TRANSLATED +HP:0009099 Midline cleft palate NOT_TRANSLATED +HP:0009100 Thick anterior alveolar process of jaw NOT_TRANSLATED +HP:0009101 Submucous labial cleft NOT_TRANSLATED +HP:0009102 AOB NOT_TRANSLATED +HP:0009102 Absence of overlap of anterior upper and lower teeth NOT_TRANSLATED +HP:0009102 Anterior open bite NOT_TRANSLATED +HP:0009102 Anterior open bite between upper and lower teeth NOT_TRANSLATED +HP:0009102 Anterior openbite NOT_TRANSLATED +HP:0009102 Apertognathia malocclusion NOT_TRANSLATED +HP:0009102 Gap between upper and lower front teeth when biting NOT_TRANSLATED +HP:0009103 Absent/small pelvis NOT_TRANSLATED +HP:0009103 Absent/underdeveloped pelvis NOT_TRANSLATED +HP:0009104 Absent/small pubic bones NOT_TRANSLATED +HP:0009104 Absent/underdeveloped pubic bones NOT_TRANSLATED +HP:0009104 Hypoplastic/aplastic pubic bones NOT_TRANSLATED +HP:0009105 Abnormal maturation of the pubic bone NOT_TRANSLATED +HP:0009106 Abnormal maturation of the pelvis bone NOT_TRANSLATED +HP:0009106 Abnormal ossification involving the bones of the pelvis NOT_TRANSLATED +HP:0009107 Abnormal maturation of thigh bone head and neck NOT_TRANSLATED +HP:0009108 Absent/small head and neck of thighbone NOT_TRANSLATED +HP:0009108 Absent/underdeveloped head and neck of thighbone NOT_TRANSLATED +HP:0009110 Eventration of the diaphragm NOT_TRANSLATED +HP:0009112 Absent left hemidiaphragm NOT_TRANSLATED +HP:0009112 Left diaphragmatic hernia NOT_TRANSLATED +HP:0009113 Diaphragmatic paraparesis NOT_TRANSLATED +HP:0009113 Diminished diaphragmatic motion NOT_TRANSLATED +HP:0009113 Weak diaphragm NOT_TRANSLATED +HP:0009115 Absent/small skeleton NOT_TRANSLATED +HP:0009115 Absent/underdeveloped skeleton NOT_TRANSLATED +HP:0009117 Underdevelopment of maxilla NOT_TRANSLATED +HP:0009117 Underdevelopment of upper jaw bones NOT_TRANSLATED +HP:0009119 Abnormally small frontal sinus NOT_TRANSLATED +HP:0009121 Abnormality of the axial skeleton NOT_TRANSLATED +HP:0009124 Abnormality of adipose tissue NOT_TRANSLATED +HP:0009124 Abnormality of fat tissue NOT_TRANSLATED +HP:0009124 Abnormality of fatty tissue NOT_TRANSLATED +HP:0009125 Inability to make and keep healthy fat tissue NOT_TRANSLATED +HP:0009126 Increased fat tissue NOT_TRANSLATED +HP:0009127 Abnormal limb muscles NOT_TRANSLATED +HP:0009127 Muscle issues in the arms and/or legs NOT_TRANSLATED +HP:0009128 Absent/small muscles of extremities NOT_TRANSLATED +HP:0009128 Absent/underdeveloped muscles of extremities NOT_TRANSLATED +HP:0009129 Amyotrophy involving the upper limbs NOT_TRANSLATED +HP:0009130 Amyotrophy involving the musculature of the hand NOT_TRANSLATED +HP:0009130 Amyotrophy of hand muscles NOT_TRANSLATED +HP:0009130 Hand muscle degeneration NOT_TRANSLATED +HP:0009130 Hand muscle wasting NOT_TRANSLATED +HP:0009130 Hand muscle wasting, bilateral NOT_TRANSLATED +HP:0009132 Abnormality of bone mineral density involving tarsal bones NOT_TRANSLATED +HP:0009138 Fusion involving the bones of the lower limbs NOT_TRANSLATED +HP:0009140 Fusion involving the bones of the feet NOT_TRANSLATED +HP:0009141 Depletion of mitochondrial dna in skeletal muscle tissue NOT_TRANSLATED +HP:0009145 Abnormality of cerebral artery NOT_TRANSLATED +HP:0009145 Abnormality of the cerebral arteries NOT_TRANSLATED +HP:0009147 Enlarged end part of the outermost bone of little finger NOT_TRANSLATED +HP:0009147 Enlarged end part of the outermost bone of pinkie finger NOT_TRANSLATED +HP:0009147 Enlarged end part of the outermost bone of pinky finger NOT_TRANSLATED +HP:0009148 Small end part of the outermost bone of little finger NOT_TRANSLATED +HP:0009148 Small end part of the outermost bone of pinkie finger NOT_TRANSLATED +HP:0009148 Small end part of the outermost bone of pinky finger NOT_TRANSLATED +HP:0009149 Delta-shaped epiphysis of the distal phalanx of the 5th finger NOT_TRANSLATED +HP:0009149 Triangular end part of the outermost bone of little finger NOT_TRANSLATED +HP:0009149 Triangular end part of the outermost bone of pinkie finger NOT_TRANSLATED +HP:0009149 Triangular end part of the outermost bone of pinky finger NOT_TRANSLATED +HP:0009150 Abnormality of the innermost bone little finger NOT_TRANSLATED +HP:0009150 Abnormality of the innermost bone pinkie finger NOT_TRANSLATED +HP:0009150 Abnormality of the innermost bone pinky finger NOT_TRANSLATED +HP:0009152 Abnormality of end part of little finger bone NOT_TRANSLATED +HP:0009152 Abnormality of end part of pinkie finger bone NOT_TRANSLATED +HP:0009152 Abnormality of end part of pinky finger bone NOT_TRANSLATED +HP:0009153 Abnormality of end part of the innermost bone of little finger NOT_TRANSLATED +HP:0009153 Abnormality of end part of the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009153 Abnormality of end part of the innermost bone of pinky finger NOT_TRANSLATED +HP:0009154 Delta-shaped epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED +HP:0009154 Triangular end part of the innermost bone of little finger NOT_TRANSLATED +HP:0009154 Triangular end part of the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009154 Triangular end part of the innermost bone of pinky finger NOT_TRANSLATED +HP:0009155 Angel-shaped epiphysis of the proximal phalanx of the 5th finger NOT_TRANSLATED +HP:0009155 Cone-shaped end part of the innermost bone of little finger NOT_TRANSLATED +HP:0009155 Cone-shaped end part of the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009155 Cone-shaped end part of the innermost bone of pinky finger NOT_TRANSLATED +HP:0009155 Cone-shaped epiphysis of the proximal phalanx of the little finger NOT_TRANSLATED +HP:0009157 Increased bone density of end part of the innermost bone of little finger NOT_TRANSLATED +HP:0009157 Increased bone density of end part of the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009157 Increased bone density of end part of the innermost bone of pinky finger NOT_TRANSLATED +HP:0009157 Ivory epiphysis of the proximal phalanx of the little finger NOT_TRANSLATED +HP:0009158 Enlarged end part of the innermost bone of little finger NOT_TRANSLATED +HP:0009158 Enlarged end part of the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009158 Enlarged end part of the innermost bone of pinky finger NOT_TRANSLATED +HP:0009159 Small end part of the innermost bone of little finger NOT_TRANSLATED +HP:0009159 Small end part of the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009159 Small end part of the innermost bone of pinky finger NOT_TRANSLATED +HP:0009160 Absent end part of the innermost bone of little finger NOT_TRANSLATED +HP:0009160 Absent end part of the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009160 Absent end part of the innermost bone of pinky finger NOT_TRANSLATED +HP:0009161 Absent/hypoplastic middle phalanx of 5th finger NOT_TRANSLATED +HP:0009161 Absent/small middle bone of pinky finger NOT_TRANSLATED +HP:0009161 Absent/underdeveloped middle bone of little finger NOT_TRANSLATED +HP:0009161 Absent/underdeveloped middle bone of pinkie finger NOT_TRANSLATED +HP:0009161 Absent/underdeveloped middle bone of pinky finger NOT_TRANSLATED +HP:0009162 Absent middle bone of little finger NOT_TRANSLATED +HP:0009162 Absent middle bone of pinkie finger NOT_TRANSLATED +HP:0009162 Absent middle bone of pinky finger NOT_TRANSLATED +HP:0009162 Aplasia of the middle phalanx of the 5th finger NOT_TRANSLATED +HP:0009164 Abnormal calcification of the wrist bones NOT_TRANSLATED +HP:0009164 Carpal calcifications NOT_TRANSLATED +HP:0009165 Speckled calcifications in end part of the outermost bone of little finger NOT_TRANSLATED +HP:0009165 Speckled calcifications in end part of the outermost bone of pinkie finger NOT_TRANSLATED +HP:0009165 Speckled calcifications in end part of the outermost bone of pinky finger NOT_TRANSLATED +HP:0009166 Fragmentation of end part of the outermost bone of little finger NOT_TRANSLATED +HP:0009166 Fragmentation of end part of the outermost bone of pinkie finger NOT_TRANSLATED +HP:0009166 Fragmentation of end part of the outermost bone of pinky finger NOT_TRANSLATED +HP:0009167 Irregular end part of the outermost bone of little finger NOT_TRANSLATED +HP:0009167 Irregular end part of the outermost bone of pinkie finger NOT_TRANSLATED +HP:0009167 Irregular end part of the outermost bone of pinky finger NOT_TRANSLATED +HP:0009168 Bullet-shaped middle little finger bone NOT_TRANSLATED +HP:0009168 Bullet-shaped middle pinkie finger bone NOT_TRANSLATED +HP:0009168 Bullet-shaped middle pinky finger bone NOT_TRANSLATED +HP:0009169 Broad middle bone of little finger NOT_TRANSLATED +HP:0009169 Broad middle bone of pinkie finger NOT_TRANSLATED +HP:0009169 Broad middle bone of pinky finger NOT_TRANSLATED +HP:0009169 Wide middle phalanx of the 5th finger NOT_TRANSLATED +HP:0009171 Triangular end part of the long bone of hand NOT_TRANSLATED +HP:0009172 Abnormal bones of 4th finger NOT_TRANSLATED +HP:0009172 Abnormality of the phalanges of the ring finger NOT_TRANSLATED +HP:0009173 Curved middle bone of little finger NOT_TRANSLATED +HP:0009173 Curved middle bone of pinkie finger NOT_TRANSLATED +HP:0009173 Curved middle bone of pinky finger NOT_TRANSLATED +HP:0009174 Abnormality of the end part of the ring finger NOT_TRANSLATED +HP:0009175 Uneven increase in bone density in the middle bone of the little finger NOT_TRANSLATED +HP:0009175 Uneven increase in bone density in the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009175 Uneven increase in bone density in the middle bone of the pinky finger NOT_TRANSLATED +HP:0009177 Fused innermost and middle bones of little finger NOT_TRANSLATED +HP:0009177 Fused innermost and middle bones of pinkie finger NOT_TRANSLATED +HP:0009177 Fused innermost and middle bones of pinky finger NOT_TRANSLATED +HP:0009177 Proximal 5th finger symphalangism NOT_TRANSLATED +HP:0009177 Proximal fifth finger symphalangism NOT_TRANSLATED +HP:0009177 Symphalangism of the proximal and middle phalanges of the 5th finger NOT_TRANSLATED +HP:0009178 Fused middle bones of little finger NOT_TRANSLATED +HP:0009178 Fused middle bones of pinkie finger NOT_TRANSLATED +HP:0009178 Fused middle bones of pinky finger NOT_TRANSLATED +HP:0009179 Displaced little finger NOT_TRANSLATED +HP:0009179 Displaced pinkie finger NOT_TRANSLATED +HP:0009179 Displaced pinky finger NOT_TRANSLATED +HP:0009179 Laterally displaced fifth finger NOT_TRANSLATED +HP:0009182 Triangular shaped middle little finger bone NOT_TRANSLATED +HP:0009182 Triangular shaped middle pinkie finger bone NOT_TRANSLATED +HP:0009182 Triangular shaped middle pinky finger bone NOT_TRANSLATED +HP:0009183 5th finger camptodactyly NOT_TRANSLATED +HP:0009183 Fifth finger camptodactyly NOT_TRANSLATED +HP:0009187 Bracket shaped end part of the outermost little finger bone NOT_TRANSLATED +HP:0009187 Bracket shaped end part of the outermost pinkie finger bone NOT_TRANSLATED +HP:0009187 Bracket shaped end part of the outermost pinky finger bone NOT_TRANSLATED +HP:0009189 Fragmentation of end part of the long bone of hand NOT_TRANSLATED +HP:0009190 Irregular end part of the long bone of hand NOT_TRANSLATED +HP:0009191 Increased bone density of end part of the long bone of hands NOT_TRANSLATED +HP:0009192 Absent/small innermost little finger bone NOT_TRANSLATED +HP:0009192 Absent/small innermost pinkie finger bone NOT_TRANSLATED +HP:0009192 Absent/small innermost pinky finger bone NOT_TRANSLATED +HP:0009192 Absent/underdeveloped innermost pinky finger bone NOT_TRANSLATED +HP:0009193 Accessory proximal metacarpal ossification centers NOT_TRANSLATED +HP:0009193 Accessory proximal metacarpal ossification centres NOT_TRANSLATED +HP:0009193 Metacarpal pseudoepiphyses NOT_TRANSLATED +HP:0009194 Small end part of the long bone of hand NOT_TRANSLATED +HP:0009195 Speckled calcifications in end part of the long bone of hand NOT_TRANSLATED +HP:0009195 Stippling of the epiphyses of the metacarpals NOT_TRANSLATED +HP:0009196 Absent end part of the long bone of hand NOT_TRANSLATED +HP:0009196 Absent metacarpal ossification center NOT_TRANSLATED +HP:0009196 Absent metacarpal ossification centre NOT_TRANSLATED +HP:0009197 Bracket shaped end part of the innermost bone of the little finger NOT_TRANSLATED +HP:0009197 Bracket shaped end part of the innermost bone of the pinkie finger NOT_TRANSLATED +HP:0009197 Bracket shaped end part of the innermost bone of the pinky finger NOT_TRANSLATED +HP:0009198 Abnormality of end part of the outermost bone of the little finger NOT_TRANSLATED +HP:0009198 Abnormality of end part of the outermost bone of the pinkie finger NOT_TRANSLATED +HP:0009198 Abnormality of end part of the outermost bone of the pinky finger NOT_TRANSLATED +HP:0009198 Abnormality of the epiphysis of the terminal phalanx of the little finger NOT_TRANSLATED +HP:0009199 Irregular end part of the innermost little finger bone NOT_TRANSLATED +HP:0009199 Irregular end part of the innermost pinkie finger bone NOT_TRANSLATED +HP:0009199 Irregular end part of the innermost pinky finger bone NOT_TRANSLATED +HP:0009201 Speckled calcifications in end part of the innnermost bone of the little finger NOT_TRANSLATED +HP:0009201 Speckled calcifications in end part of the innnermost bone of the pinkie finger NOT_TRANSLATED +HP:0009201 Speckled calcifications in end part of the innnermost bone of the pinky finger NOT_TRANSLATED +HP:0009202 Fragmentation of end part of the innermost bone of the little finger NOT_TRANSLATED +HP:0009202 Fragmentation of end part of the innermost bone of the pinkie finger NOT_TRANSLATED +HP:0009202 Fragmentation of end part of the innermost bone of the pinky finger NOT_TRANSLATED +HP:0009203 Absent end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009203 Absent end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009203 Absent end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009204 Bracket shaped end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009204 Bracket shaped end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009204 Bracket shaped end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009205 Cone-shaped end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009205 Cone-shaped end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009205 Cone-shaped end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009206 Enlarged end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009206 Enlarged end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009206 Enlarged end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009207 Fragmentation of end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009207 Fragmentation of end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009207 Fragmentation of end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009208 Irregular end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009208 Irregular end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009208 Irregular end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009209 Increased bone density of end part of the middle bone of little finger NOT_TRANSLATED +HP:0009209 Increased bone density of end part of the middle bone of pinkie finger NOT_TRANSLATED +HP:0009209 Increased bone density of end part of the middle bone of pinky finger NOT_TRANSLATED +HP:0009211 Small end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009211 Small end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009211 Small end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009212 Speckled calcifications in end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009212 Speckled calcifications in end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009212 Speckled calcifications in end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009213 Delta-shaped epiphysis of the middle phalanx of the 5th finger NOT_TRANSLATED +HP:0009213 Triangular end part of the middle bone of the little finger NOT_TRANSLATED +HP:0009213 Triangular end part of the middle bone of the pinkie finger NOT_TRANSLATED +HP:0009213 Triangular end part of the middle bone of the pinky finger NOT_TRANSLATED +HP:0009214 Absent end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009215 Bracket shaped end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009216 Cone-shaped end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009217 Enlarged end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009218 Fragmentation of end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009219 Irregular end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009220 Increased bone density of end part of the middle ring finger bone NOT_TRANSLATED +HP:0009222 Small end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009223 Speckled calcifications in end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009224 Delta-shaped epiphysis of the middle phalanx of the 4th finger NOT_TRANSLATED +HP:0009224 Triangular end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009225 Absent innermost bone of little finger NOT_TRANSLATED +HP:0009225 Absent innermost bone of pinkie finger NOT_TRANSLATED +HP:0009225 Absent innermost bone of pinky finger NOT_TRANSLATED +HP:0009226 Hypoplastic/small proximal phalanx of the 5th finger NOT_TRANSLATED +HP:0009226 Short innermost little finger bone NOT_TRANSLATED +HP:0009226 Short innermost pinkie finger bone NOT_TRANSLATED +HP:0009226 Short innermost pinky finger bone NOT_TRANSLATED +HP:0009226 Short proximal phalanx of the fifth finger NOT_TRANSLATED +HP:0009227 Broad innermost little finger bone NOT_TRANSLATED +HP:0009227 Broad innermost pinkie finger bone NOT_TRANSLATED +HP:0009227 Broad innermost pinky finger bone NOT_TRANSLATED +HP:0009227 Wide proximal phalanx of the 5th finger NOT_TRANSLATED +HP:0009228 Bullet-shaped innermost little finger bone NOT_TRANSLATED +HP:0009228 Bullet-shaped innermost pinkie finger bone NOT_TRANSLATED +HP:0009228 Bullet-shaped innermost pinky finger bone NOT_TRANSLATED +HP:0009229 Curved innermost bone of little finger NOT_TRANSLATED +HP:0009229 Curved innermost bone of pinkie finger NOT_TRANSLATED +HP:0009229 Curved innermost bone of pinky finger NOT_TRANSLATED +HP:0009231 Uneven increase in bone density in the innermost bone of little finger NOT_TRANSLATED +HP:0009231 Uneven increase in bone density in the innermost bone of pinkie finger NOT_TRANSLATED +HP:0009231 Uneven increase in bone density in the innermost bone of pinky finger NOT_TRANSLATED +HP:0009232 Fused innermost bone of little finger NOT_TRANSLATED +HP:0009232 Fused innermost bone of pinkie finger NOT_TRANSLATED +HP:0009232 Fused innermost bone of pinky finger NOT_TRANSLATED +HP:0009233 Triangular shaped innermost little finger bone NOT_TRANSLATED +HP:0009233 Triangular shaped innermost pinkie finger bone NOT_TRANSLATED +HP:0009233 Triangular shaped innermost pinky finger bone NOT_TRANSLATED +HP:0009234 Fused innermost bone of little finger with 5th long bone of hand NOT_TRANSLATED +HP:0009234 Fused innermost bone of pinkie finger with 5th long bone of hand NOT_TRANSLATED +HP:0009234 Fused innermost bone of pinky finger with 5th long bone of hand NOT_TRANSLATED +HP:0009236 Rhomboid or triangular shaped innermost bone of little finger NOT_TRANSLATED +HP:0009236 Rhomboid or triangular shaped innermost bone of pinkie finger NOT_TRANSLATED +HP:0009236 Rhomboid or triangular shaped innermost bone of pinky finger NOT_TRANSLATED +HP:0009237 Fifth finger brachydactyly NOT_TRANSLATED +HP:0009237 Hypoplastic phalanges of the little finger NOT_TRANSLATED +HP:0009237 Hypoplastic/small 5th finger NOT_TRANSLATED +HP:0009237 Hypoplastic/small little finger NOT_TRANSLATED +HP:0009237 Short fifth finger NOT_TRANSLATED +HP:0009237 Short fifth fingers NOT_TRANSLATED +HP:0009237 Short little finger NOT_TRANSLATED +HP:0009237 Short phalanges of the little finger NOT_TRANSLATED +HP:0009237 Short pinkie finger NOT_TRANSLATED +HP:0009237 Short pinky finger NOT_TRANSLATED +HP:0009238 Absent little finger NOT_TRANSLATED +HP:0009238 Absent pinkie finger NOT_TRANSLATED +HP:0009238 Absent pinky finger NOT_TRANSLATED +HP:0009239 Absent/small outermost bone of little finger NOT_TRANSLATED +HP:0009239 Absent/small outermost bone of pinkie finger NOT_TRANSLATED +HP:0009239 Absent/small outermost bone of pinky finger NOT_TRANSLATED +HP:0009239 Absent/underdeveloped outermost bone of pinky finger NOT_TRANSLATED +HP:0009240 Broad outermost little finger bone NOT_TRANSLATED +HP:0009240 Broad outermost pinkie finger bone NOT_TRANSLATED +HP:0009240 Broad outermost pinky finger bone NOT_TRANSLATED +HP:0009240 Wide outermost pinky finger bone NOT_TRANSLATED +HP:0009241 Bullet-shaped outermost little finger bone NOT_TRANSLATED +HP:0009241 Bullet-shaped outermost pinkie finger bone NOT_TRANSLATED +HP:0009241 Bullet-shaped outermost pinky finger bone NOT_TRANSLATED +HP:0009243 Uneven increase in bone density in the outermost bone of little finger NOT_TRANSLATED +HP:0009243 Uneven increase in bone density in the outermost bone of pinkie finger NOT_TRANSLATED +HP:0009243 Uneven increase in bone density in the outermost bone of pinky finger NOT_TRANSLATED +HP:0009244 Fifth finger distal interphalangeal joint symphalangism NOT_TRANSLATED +HP:0009244 Fused end and middle bones of little finger NOT_TRANSLATED +HP:0009244 Fused end and middle bones of pinkie finger NOT_TRANSLATED +HP:0009244 Fused end and middle bones of pinky finger NOT_TRANSLATED +HP:0009244 Fusion of the terminal and middle phalanges of the 5th finger NOT_TRANSLATED +HP:0009244 Symphalangism of the distal and middle phalanges of the 5th finger NOT_TRANSLATED +HP:0009244 Symphalangism of the terminal and middle phalanges of the 5th finger NOT_TRANSLATED +HP:0009245 Triangular shaped outermost little finger bone NOT_TRANSLATED +HP:0009245 Triangular shaped outermost pinkie finger bone NOT_TRANSLATED +HP:0009245 Triangular shaped outermost pinky finger bone NOT_TRANSLATED +HP:0009246 Absent outermost little finger bone NOT_TRANSLATED +HP:0009246 Absent outermost pinkie finger bone NOT_TRANSLATED +HP:0009246 Absent outermost pinky finger bone NOT_TRANSLATED +HP:0009247 Abnormality of the end part of the middle bone of the ring finger NOT_TRANSLATED +HP:0009248 Abnormality of the end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009249 Abnormality of the end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009250 Absent end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009251 Bracket shaped end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009252 Cone-shaped end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009253 Enlarged end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009254 Fragmentation of end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009255 Irregular end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009256 Increased bone density of end part of the outermost ring finger bone NOT_TRANSLATED +HP:0009258 Small end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009259 Speckled calcifications in the end part of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009260 Delta-shaped epiphysis of the distal phalanx of the 4th finger NOT_TRANSLATED +HP:0009260 Triangular end part of the outermost bone of ring finger NOT_TRANSLATED +HP:0009261 Absent end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009262 Bracket proximal epiphysis of the ring finger NOT_TRANSLATED +HP:0009262 Bracket shaped end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009263 Cone-shaped end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009264 Enlarged end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009265 Fragmentation of end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009266 Irregular end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009267 Increased bone density of end part of the innermost ring finger bone NOT_TRANSLATED +HP:0009269 Small end part of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009270 Speckled calcifications in end part of the innermost bone of ring finger NOT_TRANSLATED +HP:0009271 Delta-shaped epiphysis of the proximal phalanx of the 4th finger NOT_TRANSLATED +HP:0009271 Triangular end part of the innermost bone of ring finger NOT_TRANSLATED +HP:0009272 Absent/small ring finger bone NOT_TRANSLATED +HP:0009272 Absent/underdeveloped ring finger bone NOT_TRANSLATED +HP:0009273 Deviation of the ring finger NOT_TRANSLATED +HP:0009274 Joint contractures of the fourth finger NOT_TRANSLATED +HP:0009276 4th finger camptodactyly NOT_TRANSLATED +HP:0009276 Camptodactyly of the 4th finger NOT_TRANSLATED +HP:0009276 Camptodactyly of the ring finger NOT_TRANSLATED +HP:0009278 Ulnar deviation of the ring finger NOT_TRANSLATED +HP:0009279 Radial deviation of the ring finger NOT_TRANSLATED +HP:0009280 Hypoplastic/small 4th finger NOT_TRANSLATED +HP:0009280 Short ring finger NOT_TRANSLATED +HP:0009281 Absent ring finger NOT_TRANSLATED +HP:0009282 Abnormality of the outermost bone of ring finger NOT_TRANSLATED +HP:0009283 Abnormal middle bone of ring finger NOT_TRANSLATED +HP:0009283 Abnormality of the middle phalanx of the ring finger NOT_TRANSLATED +HP:0009284 Abnormal innermost bone of ring finger NOT_TRANSLATED +HP:0009284 Abnormality of the proximal phalanx of the ring finger NOT_TRANSLATED +HP:0009285 Curved ring finger bone NOT_TRANSLATED +HP:0009286 Curved outermost ring finger bone NOT_TRANSLATED +HP:0009287 Curved middle ring finger bone NOT_TRANSLATED +HP:0009288 Curved innermost ring finger bone NOT_TRANSLATED +HP:0009289 Absent/small outermost ring finger bone NOT_TRANSLATED +HP:0009289 Absent/underdeveloped outermost ring finger bone NOT_TRANSLATED +HP:0009290 Hypoplastic/small distal phalanx of the 4th finger NOT_TRANSLATED +HP:0009290 Short distal phalanx of the fourth finger NOT_TRANSLATED +HP:0009290 Short outermost bone of ring finger NOT_TRANSLATED +HP:0009291 Absent outermost bone of ring finger NOT_TRANSLATED +HP:0009292 Broad outermost bone of ring finger NOT_TRANSLATED +HP:0009292 Wide outermost bone of ring finger NOT_TRANSLATED +HP:0009293 Broad middle bone of the 4th finger NOT_TRANSLATED +HP:0009294 Absent middle bone of 4th finger NOT_TRANSLATED +HP:0009294 Aplasia of the middle phalanx of the 4th finger NOT_TRANSLATED +HP:0009295 Brachymesophalangy IV (finger) NOT_TRANSLATED +HP:0009295 Hypoplastic/small middle phalanx of ring finger NOT_TRANSLATED +HP:0009295 Hypoplastic/small middle phalanx of the 4th finger NOT_TRANSLATED +HP:0009295 Short middle bone of 4th finger NOT_TRANSLATED +HP:0009295 Short middle phalanx of ring finger NOT_TRANSLATED +HP:0009296 Bullet-shaped middle bone of the 4th finger NOT_TRANSLATED +HP:0009298 Absent innermost ring finger bone NOT_TRANSLATED +HP:0009299 Absent/small middle ring finger bone NOT_TRANSLATED +HP:0009299 Absent/underdeveloped middle ring finger bone NOT_TRANSLATED +HP:0009300 Absent/small innermost ring finger bone NOT_TRANSLATED +HP:0009300 Absent/underdeveloped innermost ring finger bone NOT_TRANSLATED +HP:0009301 Hypoplastic/small proximal phalanx of the 4th finger NOT_TRANSLATED +HP:0009301 Short innermost bone of the ring finger NOT_TRANSLATED +HP:0009301 Short proximal phalanx of the fourth finger NOT_TRANSLATED +HP:0009302 Bullet-shaped outermost bone of ring finger NOT_TRANSLATED +HP:0009304 Uneven increase in bone density in the outermost bone of the ring finger NOT_TRANSLATED +HP:0009305 Fused outermost and middle bones of ring finger NOT_TRANSLATED +HP:0009305 Symphalangism of the distal and middle phalanges of the 4th finger NOT_TRANSLATED +HP:0009306 Triangular shaped outermost bone of the ring finger NOT_TRANSLATED +HP:0009307 Uneven increase in bone density in the middle bone of the ring finger NOT_TRANSLATED +HP:0009308 Fused middle bone of ring finger NOT_TRANSLATED +HP:0009309 Triangular shaped middle bone of the ring finger NOT_TRANSLATED +HP:0009310 Broad innermost ring finger bone NOT_TRANSLATED +HP:0009311 Bullet-shaped innermost ring finger bone NOT_TRANSLATED +HP:0009313 Uneven increase in bone density in the innermost bone of the ring finger NOT_TRANSLATED +HP:0009314 Fused innermost bone of ring finger NOT_TRANSLATED +HP:0009315 Triangular shaped innermost bone of the 4th finger NOT_TRANSLATED +HP:0009315 Triangular shaped innermost bone of the ring finger NOT_TRANSLATED +HP:0009316 Abnormality of 3rd finger phalanges NOT_TRANSLATED +HP:0009316 Abnormality of middle finger phalanges NOT_TRANSLATED +HP:0009316 Abnormality of the middle finger bones NOT_TRANSLATED +HP:0009316 Abnormality of the phalanges of the 3rd finger NOT_TRANSLATED +HP:0009317 Deviated middle finger NOT_TRANSLATED +HP:0009318 Absent/small middle finger NOT_TRANSLATED +HP:0009318 Absent/underdeveloped middle finger NOT_TRANSLATED +HP:0009319 Camptodactyly of middle finger NOT_TRANSLATED +HP:0009320 Abnormality of end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009321 Absent end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009322 Bracket shaped end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009323 Cone-shaped end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009324 Enlarged end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009325 Fragmentation of end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009326 Irregular end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009327 Increased bone density of end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009328 Pseudoepiphyses of middle phalanx of middle-finger NOT_TRANSLATED +HP:0009329 Small end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009330 Speckled calcifications in end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009331 Delta-shaped epiphysis of the middle phalanx of the 3rd finger NOT_TRANSLATED +HP:0009331 Triangular end part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009332 Abnormality of the end part of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009333 Abnormality of the end part of the innermost bone of the middle finger NOT_TRANSLATED +HP:0009334 Abnormality of the middle part of the middle bone of the middle finger NOT_TRANSLATED +HP:0009335 Absent end part of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009336 Bracket shaped end part of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009337 Cone-shaped end part of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009338 Enlarged end part of the outermost bone of the 3rd finger NOT_TRANSLATED +HP:0009339 Fragmentation of end part of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009340 Irregular end part of the outermost long bone of the middle finger NOT_TRANSLATED +HP:0009341 Increased bone density of end part of the outermost middle finger bone NOT_TRANSLATED +HP:0009342 Pseudoepiphysis of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009343 Small end part of the outermost long bone of the middle finger NOT_TRANSLATED +HP:0009344 Speckled calcifications in end part of the outermost long bone of the middle finger NOT_TRANSLATED +HP:0009345 Delta-shaped epiphysis of the distal phalanx of the 3rd finger NOT_TRANSLATED +HP:0009345 Triangular end part of the outermost long bone of the middle finger NOT_TRANSLATED +HP:0009346 Absent end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009347 Bracket shaped end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009348 Cone-shaped end part of the innermost bone of the middle finger NOT_TRANSLATED +HP:0009349 Enlarged end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009349 Large epiphysis of proximal middle-finger phalanx NOT_TRANSLATED +HP:0009350 Fragmentation of end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009351 Irregular end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009352 Increased bone density of end part of the innermost middle finger bone NOT_TRANSLATED +HP:0009354 Small end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009355 Speckled calcifications in end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009356 Delta-shaped epiphysis of the proximal phalanx of the 3rd finger NOT_TRANSLATED +HP:0009356 Triangular end part of innermost long bone of the middle finger NOT_TRANSLATED +HP:0009357 Abnormality of terminal phalanx of middle-finger NOT_TRANSLATED +HP:0009357 Abnormality of the outermost bone of the 3rd finger NOT_TRANSLATED +HP:0009358 Abnormal innermost bone of middle finger NOT_TRANSLATED +HP:0009358 Abnormality of proximal middle-finger phalanx NOT_TRANSLATED +HP:0009372 Short index fingers and second toes NOT_TRANSLATED +HP:0009374 Broad little finger bones NOT_TRANSLATED +HP:0009374 Broad pinkie finger bones NOT_TRANSLATED +HP:0009374 Broad pinky finger bones NOT_TRANSLATED +HP:0009375 Bullet-shaped little finger bones NOT_TRANSLATED +HP:0009375 Bullet-shaped pinkie finger bones NOT_TRANSLATED +HP:0009375 Bullet-shaped pinky finger bones NOT_TRANSLATED +HP:0009376 Absent/small little finger bones NOT_TRANSLATED +HP:0009376 Absent/small pinkie finger bones NOT_TRANSLATED +HP:0009376 Absent/small pinky finger bones NOT_TRANSLATED +HP:0009376 Absent/underdeveloped pinky finger bones NOT_TRANSLATED +HP:0009377 Patchy sclerosis of the phalanges of the 5th finger NOT_TRANSLATED +HP:0009377 Uneven increase in bone density in little finger bone NOT_TRANSLATED +HP:0009377 Uneven increase in bone density in pinkie finger bone NOT_TRANSLATED +HP:0009377 Uneven increase in bone density in pinky finger bone NOT_TRANSLATED +HP:0009378 Triangular shaped little finger bones NOT_TRANSLATED +HP:0009378 Triangular shaped pinkie finger bones NOT_TRANSLATED +HP:0009378 Triangular shaped pinky finger bones NOT_TRANSLATED +HP:0009379 Rhomboid or triangular shaped little finger bone NOT_TRANSLATED +HP:0009379 Rhomboid or triangular shaped pinkie finger bone NOT_TRANSLATED +HP:0009379 Rhomboid or triangular shaped pinky finger bone NOT_TRANSLATED +HP:0009380 Absent fingers NOT_TRANSLATED +HP:0009381 Hypoplastic digits NOT_TRANSLATED +HP:0009381 Hypoplastic fingers NOT_TRANSLATED +HP:0009381 Hypoplastic/small fingers NOT_TRANSLATED +HP:0009381 Stubby finger NOT_TRANSLATED +HP:0009381 Stubby fingers NOT_TRANSLATED +HP:0009382 Absent end part of little finger bone NOT_TRANSLATED +HP:0009382 Absent end part of pinkie finger bone NOT_TRANSLATED +HP:0009382 Absent end part of pinky finger bone NOT_TRANSLATED +HP:0009383 Bracket shaped end part of little finger bone NOT_TRANSLATED +HP:0009383 Bracket shaped end part of pinkie finger bone NOT_TRANSLATED +HP:0009383 Bracket shaped end part of pinky finger bone NOT_TRANSLATED +HP:0009384 Cone-shaped end part of the little finger bones NOT_TRANSLATED +HP:0009384 Cone-shaped end part of the pinkie finger bones NOT_TRANSLATED +HP:0009384 Cone-shaped end part of the pinky finger bones NOT_TRANSLATED +HP:0009385 Enlarged end part of the little finger bones NOT_TRANSLATED +HP:0009385 Enlarged end part of the pinkie finger bones NOT_TRANSLATED +HP:0009385 Enlarged end part of the pinky finger bones NOT_TRANSLATED +HP:0009386 Fragmentation of the end part of the little finger bones NOT_TRANSLATED +HP:0009386 Fragmentation of the end part of the pinkie finger bones NOT_TRANSLATED +HP:0009386 Fragmentation of the end part of the pinky finger bones NOT_TRANSLATED +HP:0009387 Irregular end part of the little finger bones NOT_TRANSLATED +HP:0009387 Irregular end part of the pinkie finger bones NOT_TRANSLATED +HP:0009387 Irregular end part of the pinky finger bones NOT_TRANSLATED +HP:0009388 Increased bone density of end part of the little finger NOT_TRANSLATED +HP:0009388 Increased bone density of end part of the pinkie finger NOT_TRANSLATED +HP:0009388 Increased bone density of end part of the pinky finger NOT_TRANSLATED +HP:0009390 Small end part of little finger bone NOT_TRANSLATED +HP:0009390 Small end part of pinkie finger bone NOT_TRANSLATED +HP:0009390 Small end part of pinky finger bone NOT_TRANSLATED +HP:0009391 Speckled calcifications in end part of little finger bone NOT_TRANSLATED +HP:0009391 Speckled calcifications in end part of pinkie finger bone NOT_TRANSLATED +HP:0009391 Speckled calcifications in end part of pinky finger bone NOT_TRANSLATED +HP:0009392 Delta-shaped epiphyses of the 5th finger NOT_TRANSLATED +HP:0009392 Triangular end part of the little finger NOT_TRANSLATED +HP:0009392 Triangular end part of the pinkie finger NOT_TRANSLATED +HP:0009392 Triangular end part of the pinky finger NOT_TRANSLATED +HP:0009393 Absent end part of the ring finger bone NOT_TRANSLATED +HP:0009394 Bracket shaped end part of ring finger bones NOT_TRANSLATED +HP:0009395 Cone-shaped end part of the ring finger bones NOT_TRANSLATED +HP:0009396 Enlarged end part of the ring finger bones NOT_TRANSLATED +HP:0009397 Fragmentation of the end part of the ring finger bones NOT_TRANSLATED +HP:0009398 Irregular end part of the ring finger bones NOT_TRANSLATED +HP:0009399 Increased bone density of end part of the ring finger bone NOT_TRANSLATED +HP:0009401 Small end part of ring finger bone NOT_TRANSLATED +HP:0009402 Speckled calcifications in end part of ring finger bone NOT_TRANSLATED +HP:0009403 Delta-shaped epiphyses of the 4th finger NOT_TRANSLATED +HP:0009403 Triangular end part of ring finger bone NOT_TRANSLATED +HP:0009404 Broad bones of ring finger NOT_TRANSLATED +HP:0009405 Bullet-shaped of bone of ring finger NOT_TRANSLATED +HP:0009406 Patchy sclerosis of the phalanges of the 4th finger NOT_TRANSLATED +HP:0009406 Uneven increase in bone density in ring finger bone NOT_TRANSLATED +HP:0009407 Triangular shaped bone of ring finger NOT_TRANSLATED +HP:0009408 Absent/small ring finger bones NOT_TRANSLATED +HP:0009408 Absent/underdeveloped ring finger bones NOT_TRANSLATED +HP:0009410 Absent end part of middle finger bone NOT_TRANSLATED +HP:0009411 Bracket shaped end part of middle finger bone NOT_TRANSLATED +HP:0009412 Cone-shaped end part of middle finger bone NOT_TRANSLATED +HP:0009413 Enlarged end part of middle finger bone NOT_TRANSLATED +HP:0009414 Fragmentation of end part of middle finger bone NOT_TRANSLATED +HP:0009415 Irregular end part of middle finger bone NOT_TRANSLATED +HP:0009416 Increased bone density of end part of the middle finger bone NOT_TRANSLATED +HP:0009417 Pseudoepiphyses of middle finger phalanges NOT_TRANSLATED +HP:0009418 Small end part of middle finger bone NOT_TRANSLATED +HP:0009419 Speckled calcifications in end part of middle finger bone NOT_TRANSLATED +HP:0009420 Delta-shaped epiphyses of the 3rd finger NOT_TRANSLATED +HP:0009420 Triangular end part of middle finger bone NOT_TRANSLATED +HP:0009421 Absent/small outermost middle finger bone NOT_TRANSLATED +HP:0009421 Absent/underdeveloped outermost middle finger bone NOT_TRANSLATED +HP:0009422 Broad outermost bone of middle finger NOT_TRANSLATED +HP:0009423 Bullet-shaped outermost bone of the middle finger NOT_TRANSLATED +HP:0009424 Lytic defect of terminal phalanx of middle finger NOT_TRANSLATED +HP:0009425 Uneven increase in bone density in the outermost bone of the 3rd finger NOT_TRANSLATED +HP:0009426 Fused outermost and middle bones of middle finger NOT_TRANSLATED +HP:0009426 Symphalangism of the distal and middle phalanges of the 3rd finger NOT_TRANSLATED +HP:0009427 Triangular shaped outermost bone of the middle finger NOT_TRANSLATED +HP:0009428 Curved outermost bone of the 3rd finger NOT_TRANSLATED +HP:0009429 Absent of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009430 Broad middle bone of middle finger NOT_TRANSLATED +HP:0009430 Wide/broad middle phalanx of middle-finger NOT_TRANSLATED +HP:0009431 Bullet-shaped middle bone of middle finger NOT_TRANSLATED +HP:0009432 Curved middle bone of the middle finger NOT_TRANSLATED +HP:0009434 Uneven increase in bone density in the middle bone of the middle finger NOT_TRANSLATED +HP:0009435 Fused middle bone of middle finger NOT_TRANSLATED +HP:0009436 Triangular shaped middle bone of the middle finger NOT_TRANSLATED +HP:0009437 Absent/small middle bone of the middle finger NOT_TRANSLATED +HP:0009437 Absent/underdeveloped middle bone of the middle finger NOT_TRANSLATED +HP:0009438 Absent middle bone of middle finger NOT_TRANSLATED +HP:0009438 Absent middle phalanx of middle finger NOT_TRANSLATED +HP:0009438 Aplasia of the middle phalanx of the 3rd finger NOT_TRANSLATED +HP:0009439 Brachymesophalangy III (finger) NOT_TRANSLATED +HP:0009439 Hypoplastic/small middle phalanx of the 3rd finger NOT_TRANSLATED +HP:0009439 Short middle bone of middle finger NOT_TRANSLATED +HP:0009440 Wide bones of middle finger NOT_TRANSLATED +HP:0009440 Wide/broad middle finger phalanges NOT_TRANSLATED +HP:0009441 Bullet-shaped bones of middle finger NOT_TRANSLATED +HP:0009442 Curved bones of middle finger NOT_TRANSLATED +HP:0009443 Lytic defects of middle finger phalanges NOT_TRANSLATED +HP:0009444 Patchy sclerosis of middle finger phalanges NOT_TRANSLATED +HP:0009444 Patchy sclerosis of the phalanges of the 3rd finger NOT_TRANSLATED +HP:0009444 Uneven increase in bone density in middle finger bone NOT_TRANSLATED +HP:0009445 Fused middle finger NOT_TRANSLATED +HP:0009446 Triangular shaped bone of the middle finger NOT_TRANSLATED +HP:0009447 Absent/small middle finger bone NOT_TRANSLATED +HP:0009447 Absent/underdeveloped middle finger bone NOT_TRANSLATED +HP:0009447 Hypoplastic middle finger phalanges NOT_TRANSLATED +HP:0009447 Short middle finger phalanges NOT_TRANSLATED +HP:0009447 Small middle finger phalanges NOT_TRANSLATED +HP:0009450 Broad innermost bone of middle finger NOT_TRANSLATED +HP:0009451 Bullet-shaped innermost bone of the middle finger NOT_TRANSLATED +HP:0009452 Curved innermost bone of middle finger NOT_TRANSLATED +HP:0009454 Uneven increase in bone density in the innermost bone of the middle finger NOT_TRANSLATED +HP:0009455 Fused innermost bone of middle finger NOT_TRANSLATED +HP:0009456 Triangular shaped innermost bone of middle finger NOT_TRANSLATED +HP:0009457 Absent/small innermost bone of middle finger NOT_TRANSLATED +HP:0009457 Absent/underdeveloped innermost bone of middle finger NOT_TRANSLATED +HP:0009458 Absent innermost bone of middle finger NOT_TRANSLATED +HP:0009459 Hypoplastic/small proximal phalanx of the 3rd finger NOT_TRANSLATED +HP:0009459 Short innermost bone of middle finger NOT_TRANSLATED +HP:0009459 Short proximal middle-finger phalanx NOT_TRANSLATED +HP:0009459 Short proximal phalanx of the third finger NOT_TRANSLATED +HP:0009459 Small proximal middle-finger phalanx NOT_TRANSLATED +HP:0009460 Absent middle finger NOT_TRANSLATED +HP:0009461 Hypoplastic/small 3rd finger NOT_TRANSLATED +HP:0009461 Short middle finger NOT_TRANSLATED +HP:0009462 Inward turned middle finger NOT_TRANSLATED +HP:0009463 Ulnar deviation of middle fingers NOT_TRANSLATED +HP:0009464 Medially deviated index finger NOT_TRANSLATED +HP:0009464 Second finger ulnar deviation NOT_TRANSLATED +HP:0009464 Ulnar angulation of the index finger NOT_TRANSLATED +HP:0009464 Ulnar deviation of index fingers NOT_TRANSLATED +HP:0009465 Finger bends toward pinky NOT_TRANSLATED +HP:0009465 Ulnar Drift NOT_TRANSLATED +HP:0009466 Radially deviated fingers NOT_TRANSLATED +HP:0009466 Radially deviated phalanges NOT_TRANSLATED +HP:0009467 Radially deviated index finger NOT_TRANSLATED +HP:0009468 Deviated index finger NOT_TRANSLATED +HP:0009468 Displaced index finger NOT_TRANSLATED +HP:0009469 Contracture of the outermost hinge joint of the 3rd finger NOT_TRANSLATED +HP:0009471 Camptodactyly of the 3rd finger NOT_TRANSLATED +HP:0009471 Camptodactyly of the third finger NOT_TRANSLATED +HP:0009473 Contractures involving the hands NOT_TRANSLATED +HP:0009473 Contractures of the hands NOT_TRANSLATED +HP:0009477 Fused innermost and middle bone of fourth finger NOT_TRANSLATED +HP:0009478 Fused innermost bone of ring finger with 4th long bone of hand NOT_TRANSLATED +HP:0009482 Fused of innermost and middle bones of middle finger NOT_TRANSLATED +HP:0009483 Fused innermost bones of middle finger with middle long bone of hand NOT_TRANSLATED +HP:0009484 Displaced hand or fingers of the hand NOT_TRANSLATED +HP:0009486 Radial deviation of hands NOT_TRANSLATED +HP:0009487 Ulnar deviation of hands NOT_TRANSLATED +HP:0009487 Ulnar deviation of the hands NOT_TRANSLATED +HP:0009488 Absent end part of index finger NOT_TRANSLATED +HP:0009489 Bracket shaped end part of index finger NOT_TRANSLATED +HP:0009489 Bracket-epiphyses of index finger NOT_TRANSLATED +HP:0009490 Cone-shaped end part of the index finger NOT_TRANSLATED +HP:0009491 Enlarged end part of the index finger NOT_TRANSLATED +HP:0009492 Fragmentation of end part of the index finger NOT_TRANSLATED +HP:0009493 Irregular end part of the index finger NOT_TRANSLATED +HP:0009494 Increased bone density of end part of the index finger bone NOT_TRANSLATED +HP:0009495 Accessory index finger epiphysis NOT_TRANSLATED +HP:0009496 Small end part of the index finger NOT_TRANSLATED +HP:0009497 Speckled calcifications in end part of the index finger NOT_TRANSLATED +HP:0009498 Triangular end part of the index finger NOT_TRANSLATED +HP:0009499 Abnormality of the end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009499 Epiphyseal abnormality of terminal index finger phalanx NOT_TRANSLATED +HP:0009500 Abnormality of end part of the middle bone of the index finger NOT_TRANSLATED +HP:0009500 Epiphyseal abnormality of middle phalanx of the 2nd finger NOT_TRANSLATED +HP:0009501 Epiphyseal abnormality of the proximal phalanx of the 2nd finger NOT_TRANSLATED +HP:0009502 Absent end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009502 Absent ossification/absent epiphysis of terminal index finger phalanx NOT_TRANSLATED +HP:0009503 Bracket shaped end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009504 Cone-shaped end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009505 Enlarged end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009506 Fragmentation of end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009507 Irregular end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009508 Increased bone density of end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009508 Ivory epiphysis of terminal index finger phalanx NOT_TRANSLATED +HP:0009510 Small end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009511 Speckled calcifications in end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009512 Triangular end part of the outermost bone of the index finger NOT_TRANSLATED +HP:0009513 Absent epiphyses of middle phalanx of index finger NOT_TRANSLATED +HP:0009513 Missing end part of the middle long bone of the index finger NOT_TRANSLATED +HP:0009514 Bracket shaped end part of the middle long bone of the index finger NOT_TRANSLATED +HP:0009515 Cone-shaped end part of the middle long bone of the index finger NOT_TRANSLATED +HP:0009515 Cone-shaped epiphyses of middle phalanx of index finger NOT_TRANSLATED +HP:0009516 Enlarged end part of the middle bone of the index finger NOT_TRANSLATED +HP:0009517 Fragmentation of end part of the middle long bone of the index finger NOT_TRANSLATED +HP:0009518 Irregular end part of the middle long bone of the index finger NOT_TRANSLATED +HP:0009519 Increased bone density of end part of the middle bone of the index finger NOT_TRANSLATED +HP:0009521 Small end part of the innermost long bone of index finger NOT_TRANSLATED +HP:0009522 Speckled calcifications in end part of the middle bone of the index finger NOT_TRANSLATED +HP:0009523 Triangular end part of the middle bone of the index finger NOT_TRANSLATED +HP:0009524 Absent end part of innermost long bone of index finger NOT_TRANSLATED +HP:0009525 Bracket epiphyses of proximal index finger phalanx NOT_TRANSLATED +HP:0009525 Bracket shaped end part of innermost long bone of index finger NOT_TRANSLATED +HP:0009526 Cone-shaped end part of innermost long bone of index finger NOT_TRANSLATED +HP:0009526 Cone-shaped epiphysis of proximal index finger phalanx NOT_TRANSLATED +HP:0009527 Enlarged end part of innermost long bone of index finger NOT_TRANSLATED +HP:0009527 Large epiphysis of proximal index finger phalanx NOT_TRANSLATED +HP:0009528 Fragmentation of end part of innermost long bone of index finger NOT_TRANSLATED +HP:0009529 Irregular end part of innermost long bone of index finger NOT_TRANSLATED +HP:0009530 Increased bone density of end part of the innermost bone of the index finger NOT_TRANSLATED +HP:0009532 Small end part of proximal long bond of index finger NOT_TRANSLATED +HP:0009533 Speckled calcifications in end part of the innermost long bone of index finger NOT_TRANSLATED +HP:0009534 Triangular end part of innermost long bone of index finger NOT_TRANSLATED +HP:0009534 Triangular epiphysis of proximal index finger phalanx NOT_TRANSLATED +HP:0009535 Absent index finger NOT_TRANSLATED +HP:0009535 Absent index finger phalanges NOT_TRANSLATED +HP:0009535 Aplasia of the index finger NOT_TRANSLATED +HP:0009536 Hypoplastic index finger phalanges NOT_TRANSLATED +HP:0009536 Hypoplastic/small index finger NOT_TRANSLATED +HP:0009536 Short index finger NOT_TRANSLATED +HP:0009536 Short index finger phalanges NOT_TRANSLATED +HP:0009536 Short index fingers NOT_TRANSLATED +HP:0009537 Joint contractures of the 2nd finger NOT_TRANSLATED +HP:0009540 Camptodactyly of 2nd finger NOT_TRANSLATED +HP:0009540 Camptodactyly of index finger NOT_TRANSLATED +HP:0009540 Camptodactyly of second finger NOT_TRANSLATED +HP:0009541 Abnormal index finger bones NOT_TRANSLATED +HP:0009541 Abnormality of 2nd finger phalanges NOT_TRANSLATED +HP:0009542 Abnormality of terminal index finger phalanx NOT_TRANSLATED +HP:0009542 Abnormality of the outermost bone of the 2nd finger NOT_TRANSLATED +HP:0009543 Abnormal middle index finger bone NOT_TRANSLATED +HP:0009543 Abnormality of middle 2nd finger phalanx NOT_TRANSLATED +HP:0009544 Abnormal innermost index finger bone NOT_TRANSLATED +HP:0009544 Abnormality of the proximal 2nd finger phalanx NOT_TRANSLATED +HP:0009545 Fused index finger bones NOT_TRANSLATED +HP:0009545 Symphalangism of index finger phalanges NOT_TRANSLATED +HP:0009546 Triangular bones of index finger NOT_TRANSLATED +HP:0009546 Triangular index finger phalanges NOT_TRANSLATED +HP:0009547 Wide index finger bones NOT_TRANSLATED +HP:0009547 Wide/broad index finger phalanges NOT_TRANSLATED +HP:0009548 Bullet-shaped index finger bones NOT_TRANSLATED +HP:0009549 Curved index finger bones NOT_TRANSLATED +HP:0009550 Lytic defect in index finger phalanges NOT_TRANSLATED +HP:0009551 Patchy sclerosis of the phalanges of the 2nd finger NOT_TRANSLATED +HP:0009551 Uneven increase in bone density in index finger bone NOT_TRANSLATED +HP:0009552 Absent/small index finger bone NOT_TRANSLATED +HP:0009552 Absent/underdeveloped index finger bone NOT_TRANSLATED +HP:0009554 Hair displacement, preauricular, towards lateral cheekbone NOT_TRANSLATED +HP:0009554 Hair growing down to cheek NOT_TRANSLATED +HP:0009554 Projection of scalp hair onto lateral cheek NOT_TRANSLATED +HP:0009555 Decreased diameter of pharynx NOT_TRANSLATED +HP:0009555 Decreased length of pharynx NOT_TRANSLATED +HP:0009555 Decreased size of pharynx NOT_TRANSLATED +HP:0009555 Decreased volume of pharynx NOT_TRANSLATED +HP:0009555 Decreased width of pharynx NOT_TRANSLATED +HP:0009555 Hypotrophic pharynx NOT_TRANSLATED +HP:0009555 Small pharynx NOT_TRANSLATED +HP:0009555 Underdevelopment of pharynx NOT_TRANSLATED +HP:0009556 Absent shankbone NOT_TRANSLATED +HP:0009556 Absent shinbone NOT_TRANSLATED +HP:0009556 Aplasia of the tibia NOT_TRANSLATED +HP:0009557 Absent/small outermost index finger bone NOT_TRANSLATED +HP:0009557 Absent/underdeveloped outermost index finger bone NOT_TRANSLATED +HP:0009558 Wide outermost bone of the index finger NOT_TRANSLATED +HP:0009559 Bullet-shaped outermost bone of the index finger NOT_TRANSLATED +HP:0009560 Curved outermost bone of the index finger NOT_TRANSLATED +HP:0009561 Acro-osteolysis of index finger NOT_TRANSLATED +HP:0009561 Acro-osteolysis of terminal index finger phalanx NOT_TRANSLATED +HP:0009561 Osteolytic defects of the outermost bone of the 2nd finger NOT_TRANSLATED +HP:0009562 Uneven increase in bone density in the outermost bone of the 2nd finger NOT_TRANSLATED +HP:0009563 Fused outermost and middle index finger bones NOT_TRANSLATED +HP:0009563 Symphalangism of the distal and middle phalanges of the 2nd finger NOT_TRANSLATED +HP:0009564 Triangular shaped outermost bone of the 2nd finger NOT_TRANSLATED +HP:0009565 Absent outermost index finger bone NOT_TRANSLATED +HP:0009565 Absent terminal index finger phalanx NOT_TRANSLATED +HP:0009566 Hypoplastic terminal index finger phalanx NOT_TRANSLATED +HP:0009566 Hypoplastic/small distal phalanx of the 2nd finger NOT_TRANSLATED +HP:0009566 Short distal phalanx of the second finger NOT_TRANSLATED +HP:0009566 Short outermost bone of the index finger NOT_TRANSLATED +HP:0009566 Short terminal index finger phalanx NOT_TRANSLATED +HP:0009568 Absent/hypoplastic middle phalanx of 2nd finger NOT_TRANSLATED +HP:0009568 Absent/small middle index finger bone NOT_TRANSLATED +HP:0009568 Absent/underdeveloped middle index finger bone NOT_TRANSLATED +HP:0009568 Hypoplastic/aplastic middle phalanx of index finger NOT_TRANSLATED +HP:0009569 Broad middle bone of the index finger NOT_TRANSLATED +HP:0009570 Bullet-shaped middle bone of index finger NOT_TRANSLATED +HP:0009571 Curved middle bone of the index finger NOT_TRANSLATED +HP:0009572 Lytic defects of middle index finger phalanx NOT_TRANSLATED +HP:0009573 Uneven increase in bone density in the middle bone of the index finger NOT_TRANSLATED +HP:0009574 Fused middle bone of index finger NOT_TRANSLATED +HP:0009575 Triangular shaped middle bone of index finger NOT_TRANSLATED +HP:0009576 Absent middle bone of index finger NOT_TRANSLATED +HP:0009576 Absent middle phalanx of index finger NOT_TRANSLATED +HP:0009576 Aplasia of the middle phalanx of the 2nd finger NOT_TRANSLATED +HP:0009577 Brachymesophalangy II (finger) NOT_TRANSLATED +HP:0009577 Hypoplastic middle index finger phalanx NOT_TRANSLATED +HP:0009577 Hypoplastic/small middle phalanx of the 2nd finger NOT_TRANSLATED +HP:0009577 Short middle bone of index finger NOT_TRANSLATED +HP:0009579 Fused innermost and middle index finger bones NOT_TRANSLATED +HP:0009580 Absent/small innermost index finger bone NOT_TRANSLATED +HP:0009580 Absent/underdeveloped innermost index finger bone NOT_TRANSLATED +HP:0009581 Wide innermost bone of index finger NOT_TRANSLATED +HP:0009581 Wide/broad proximal index finger phalanx NOT_TRANSLATED +HP:0009582 Bullet-shaped innermost bone of index finger NOT_TRANSLATED +HP:0009583 Curved innermost bone of index finger NOT_TRANSLATED +HP:0009584 Lytic defects of proximal index finger phalanx NOT_TRANSLATED +HP:0009585 Uneven increase in bone density in innermost index finger bone NOT_TRANSLATED +HP:0009586 Fused innermost bone of index finger NOT_TRANSLATED +HP:0009587 Triangular proximal index finger phalanx NOT_TRANSLATED +HP:0009587 Triangular shaped innermost bone of index finger NOT_TRANSLATED +HP:0009588 Acoustic Neuroma NOT_TRANSLATED +HP:0009588 Vestibular Schwann cell tumor NOT_TRANSLATED +HP:0009588 Vestibular Schwann cell tumour NOT_TRANSLATED +HP:0009588 Vestibular neurilemmoma NOT_TRANSLATED +HP:0009588 Vestibular neurinoma NOT_TRANSLATED +HP:0009588 Vestibular neurolemmoma NOT_TRANSLATED +HP:0009589 Bilateral acoustic neuromas NOT_TRANSLATED +HP:0009591 Abnormality of the VIIIth cranial nerve NOT_TRANSLATED +HP:0009591 Abnormality of the eighth cranial nerve NOT_TRANSLATED +HP:0009596 Absent innermost bone of index finger NOT_TRANSLATED +HP:0009597 Hypoplastic/small proximal phalanx of the 2nd finger NOT_TRANSLATED +HP:0009597 Short proximal index finger phalanx NOT_TRANSLATED +HP:0009597 Short proximal phalanx of the second finger NOT_TRANSLATED +HP:0009598 Fused innermost bone of index finger with 2nd long bone of hand NOT_TRANSLATED +HP:0009599 Abnormality of end part of thumb long bone NOT_TRANSLATED +HP:0009599 Abnormality of the epiphyses of the thumb NOT_TRANSLATED +HP:0009599 Abnormality of thumb epiphyses NOT_TRANSLATED +HP:0009600 Contracture of thumb NOT_TRANSLATED +HP:0009600 Flexion deformities of thumbs NOT_TRANSLATED +HP:0009600 Joint contractures of the thumb NOT_TRANSLATED +HP:0009601 Absent or hypoplastic thumbs NOT_TRANSLATED +HP:0009601 Absent/hypoplastic thumb NOT_TRANSLATED +HP:0009601 Absent/hypoplastic thumbs NOT_TRANSLATED +HP:0009601 Absent/small thumb NOT_TRANSLATED +HP:0009601 Absent/underdeveloped thumb NOT_TRANSLATED +HP:0009601 Aplasia/hypoplasia of thumbs NOT_TRANSLATED +HP:0009601 Aplastic/hypoplastic thumbs NOT_TRANSLATED +HP:0009601 Hypoplastic to aplastic thumbs NOT_TRANSLATED +HP:0009601 Hypoplastic/absent thumb NOT_TRANSLATED +HP:0009601 Thumb aplasia/hypoplasia NOT_TRANSLATED +HP:0009602 Abnormality of the thumb bones NOT_TRANSLATED +HP:0009602 Abnormality of thumb phalanges NOT_TRANSLATED +HP:0009603 Abnormal thumb placement NOT_TRANSLATED +HP:0009603 Deviated thumb NOT_TRANSLATED +HP:0009603 Displacement of the thumb NOT_TRANSLATED +HP:0009606 Complete duplication of outermost bone of the thumb NOT_TRANSLATED +HP:0009608 Complete duplication of the innermost bone of the thumb NOT_TRANSLATED +HP:0009609 Partial/complete duplication of the 1st long bone of hand NOT_TRANSLATED +HP:0009609 Partial/complete duplication of the 1st metacarpal NOT_TRANSLATED +HP:0009611 Bifid distal phalanx of thumb NOT_TRANSLATED +HP:0009611 Bifid terminal phalanges of thumbs NOT_TRANSLATED +HP:0009611 Bifid thumb distal phalanx NOT_TRANSLATED +HP:0009611 Incipient distal thumb phalanx duplication NOT_TRANSLATED +HP:0009611 Notched outermost bone of the thumb NOT_TRANSLATED +HP:0009611 Notched outermost bone of thumb NOT_TRANSLATED +HP:0009611 Notched terminal thumb phalanx NOT_TRANSLATED +HP:0009612 Double thumb distal phalanges NOT_TRANSLATED +HP:0009612 Duplicated terminal phalanx of thumb NOT_TRANSLATED +HP:0009612 Duplication of distal thumb phalanx NOT_TRANSLATED +HP:0009612 Duplication of terminal thumb phalanx NOT_TRANSLATED +HP:0009612 Duplication of the outermost bone of the thumb NOT_TRANSLATED +HP:0009612 Partial/complete duplication of the distal phalanx of the thumb NOT_TRANSLATED +HP:0009613 Notched innermost bone of thumb NOT_TRANSLATED +HP:0009613 Partial/complete duplication of the proximal phalanx of the thumb NOT_TRANSLATED +HP:0009614 Notched thumb bone NOT_TRANSLATED +HP:0009615 Complete duplication of the first long bone of hand NOT_TRANSLATED +HP:0009616 Notched first long bone of hand NOT_TRANSLATED +HP:0009616 partial duplication of the first metacarpal NOT_TRANSLATED +HP:0009617 Abnormality of terminal thumb phalanx NOT_TRANSLATED +HP:0009617 Abnormality of the outermost bone of the thumb NOT_TRANSLATED +HP:0009618 Abnormal innermost thumb bone NOT_TRANSLATED +HP:0009618 Abnormality of proximal thumb phalanx NOT_TRANSLATED +HP:0009623 Attachment of thumb close to wrist NOT_TRANSLATED +HP:0009623 Low implantation of the thumb NOT_TRANSLATED +HP:0009623 Low-set thumb NOT_TRANSLATED +HP:0009623 Proximally placed thumbs NOT_TRANSLATED +HP:0009626 Interphalangeal extension contractures of thumbs NOT_TRANSLATED +HP:0009629 Absent/small innermost thumb bone NOT_TRANSLATED +HP:0009629 Absent/underdeveloped innermost thumb bone NOT_TRANSLATED +HP:0009630 Broad innermost thumb bone NOT_TRANSLATED +HP:0009631 Bullet-shaped innermost thumb bone NOT_TRANSLATED +HP:0009632 Curved innermost thumb bone NOT_TRANSLATED +HP:0009633 Osteolytische defecten van de proximale falanx van de duim CANDIDATE +HP:0009634 Uneven increase in bone density in the innermost thumb bone NOT_TRANSLATED +HP:0009635 Fusion of thumb bone NOT_TRANSLATED +HP:0009636 Triangular innermost thumb bone NOT_TRANSLATED +HP:0009636 Triangular proximal thumb phalanx NOT_TRANSLATED +HP:0009637 Absent innermost thumb bone NOT_TRANSLATED +HP:0009637 Absent ossification/absent proximal thumb phalanx NOT_TRANSLATED +HP:0009637 Aplasia of the proximal phalanx of the thumb NOT_TRANSLATED +HP:0009638 Hypoplastic/small proximal phalanx of the thumb NOT_TRANSLATED +HP:0009638 Short proximal phalanges of thumb NOT_TRANSLATED +HP:0009638 Short proximal thumb bone NOT_TRANSLATED +HP:0009638 Short proximal thumb phalanx NOT_TRANSLATED +HP:0009640 Ankylosis of the metacarpophalangeal joint of the thumb NOT_TRANSLATED +HP:0009640 Fusion of the innermost bone of the thumb with the 1st long bone of hand NOT_TRANSLATED +HP:0009641 Absent/small outermost thumb bone NOT_TRANSLATED +HP:0009641 Absent/underdeveloped outermost thumb bone NOT_TRANSLATED +HP:0009642 Broad outermost bone of the thumb NOT_TRANSLATED +HP:0009642 Broad terminal thumb phalanx NOT_TRANSLATED +HP:0009642 Wide distal phalanx of thumb NOT_TRANSLATED +HP:0009642 Wide outermost bone of thumb NOT_TRANSLATED +HP:0009643 Bullet-shaped outermost bone of the thumb NOT_TRANSLATED +HP:0009644 Curved outermost bone of the thumb NOT_TRANSLATED +HP:0009645 Osteolytic defects of the distal phalanx of the thumb NOT_TRANSLATED +HP:0009645 Osteolytic defects of the outermost bone of the thumb NOT_TRANSLATED +HP:0009646 Uneven increase in bone density in the outermost bone of the thumb NOT_TRANSLATED +HP:0009648 Triangular shaped outermost bone of the thumb NOT_TRANSLATED +HP:0009649 Absence of the outermost bone of the thumb NOT_TRANSLATED +HP:0009649 Absent ossification/absent terminal thumb phalanx NOT_TRANSLATED +HP:0009649 Aplasia of the outermost bone of the thumb NOT_TRANSLATED +HP:0009650 Hypoplastic terminal thumb phalanx NOT_TRANSLATED +HP:0009650 Hypoplastic/small distal phalanx of the thumb NOT_TRANSLATED +HP:0009650 Short outermost bone of the thumb NOT_TRANSLATED +HP:0009650 Short terminal thumb phalanx NOT_TRANSLATED +HP:0009650 Short thumb terminal phalanx NOT_TRANSLATED +HP:0009650 Small terminal thumb phalanx NOT_TRANSLATED +HP:0009652 Bullet-shaped phalanges of the thumb NOT_TRANSLATED +HP:0009652 Bullet-shaped thumb bone NOT_TRANSLATED +HP:0009653 Curved phalanges of the thumb NOT_TRANSLATED +HP:0009653 Curved thumb bone NOT_TRANSLATED +HP:0009654 Osteolytic defects of the phalanges of the thumb NOT_TRANSLATED +HP:0009655 Patchy sclerosis of the phalanges of the thumb NOT_TRANSLATED +HP:0009655 Uneven increase in bone density in thumb bone NOT_TRANSLATED +HP:0009656 Fused thumb bones NOT_TRANSLATED +HP:0009656 Fused thumb phalanges NOT_TRANSLATED +HP:0009656 Symphalangism of the distal and proximal phalanges of the thumb NOT_TRANSLATED +HP:0009657 Triangular shaped phalanges of the thumb NOT_TRANSLATED +HP:0009657 Triangular shaped thumb bone NOT_TRANSLATED +HP:0009657 Triangular thumb phalanges NOT_TRANSLATED +HP:0009658 Absent/small thumb bones NOT_TRANSLATED +HP:0009658 Absent/underdeveloped thumb bones NOT_TRANSLATED +HP:0009659 Aplasia of the phalanges of the thumb NOT_TRANSLATED +HP:0009660 Hypoplastic thumb phalanges NOT_TRANSLATED +HP:0009660 Hypoplastic/small phalanges of the thumb NOT_TRANSLATED +HP:0009660 Short thumb bone NOT_TRANSLATED +HP:0009660 Short thumb phalanges NOT_TRANSLATED +HP:0009662 Abnormality of terminal thumb epiphysis NOT_TRANSLATED +HP:0009662 Abnormality of the end part of the outermost bone of the thumb NOT_TRANSLATED +HP:0009663 Abnormality of end part of thumb innermost long bone NOT_TRANSLATED +HP:0009664 Absent end part of thumb innermost long bone NOT_TRANSLATED +HP:0009665 Bracket shaped end part of thumb innermost long bone NOT_TRANSLATED +HP:0009666 Cone-shaped end part of thumb innermost long bone NOT_TRANSLATED +HP:0009667 Enlarged end part of thumb innermost long bone NOT_TRANSLATED +HP:0009668 Fragmentation of end part of thumb innermost long bone NOT_TRANSLATED +HP:0009669 Irregular end part of thumb innermost long bone NOT_TRANSLATED +HP:0009670 Increased bone density of end part of the innermost bone of the thumb NOT_TRANSLATED +HP:0009672 Small end part of thumb innermost long bone NOT_TRANSLATED +HP:0009673 Speckled calcifications in end part of thumb innermost long bone NOT_TRANSLATED +HP:0009674 Triangular end part of thumb innermost long bone NOT_TRANSLATED +HP:0009675 Absent end part of thumb outermost long bone NOT_TRANSLATED +HP:0009676 Bracket shaped end part of thumb outermost long bone NOT_TRANSLATED +HP:0009677 Cone-shaped end part of thumb outermost long bone NOT_TRANSLATED +HP:0009677 Cone-shaped terminal thumb phalanx epiphysis NOT_TRANSLATED +HP:0009678 Enlarged end part of thumb outermost long bone NOT_TRANSLATED +HP:0009678 Large terminal thumb phalanx epiphysis NOT_TRANSLATED +HP:0009679 Fragmentation of end part thumb outermost long bone NOT_TRANSLATED +HP:0009680 Irregular end part of thumb outermost bone NOT_TRANSLATED +HP:0009681 Increased bone density of end part of the outermost bone of the thumb NOT_TRANSLATED +HP:0009682 Pseudoepiphysis of the outermost bone of the thumb NOT_TRANSLATED +HP:0009683 Small end part of thumb outermost bone NOT_TRANSLATED +HP:0009684 Speckled calcifications in the end part of the outermost thumb bone NOT_TRANSLATED +HP:0009685 Triangular end part of thumb outermost bone NOT_TRANSLATED +HP:0009685 Triangular epiphysis of the outermost bone of the thumb NOT_TRANSLATED +HP:0009687 Bracket shaped end part of the thumb bone NOT_TRANSLATED +HP:0009688 Cone-shaped end part of thumb long bone NOT_TRANSLATED +HP:0009688 Cone-shaped epiphyses of the thumb NOT_TRANSLATED +HP:0009688 Cone-shaped thumb epiphyses NOT_TRANSLATED +HP:0009689 Enlarged end part of thumb long bone NOT_TRANSLATED +HP:0009689 Enlarged epiphyses of the thumb NOT_TRANSLATED +HP:0009690 Fragmentation of end part of long bone of thumb NOT_TRANSLATED +HP:0009690 Fragmentation of the epiphyses of the thumb NOT_TRANSLATED +HP:0009691 Irregular end part of thumb long bone NOT_TRANSLATED +HP:0009691 Irregular epiphyses of the thumb NOT_TRANSLATED +HP:0009692 Increased bone density of end part of the thumb NOT_TRANSLATED +HP:0009692 Ivory epiphyses of the thumb NOT_TRANSLATED +HP:0009693 Pseudoepiphyses of the thumb NOT_TRANSLATED +HP:0009694 Small end part of thumb long bone NOT_TRANSLATED +HP:0009694 Small epiphyses of the thumb NOT_TRANSLATED +HP:0009695 Speckled calcifications in end part of thumb bone NOT_TRANSLATED +HP:0009695 Stippling of the epiphyses of the thumb NOT_TRANSLATED +HP:0009696 Triangular end part of the thumb bone NOT_TRANSLATED +HP:0009699 Lytic defects of hand bones NOT_TRANSLATED +HP:0009700 Fused finger bones NOT_TRANSLATED +HP:0009700 Symphalangism of the hand NOT_TRANSLATED +HP:0009700 Synostosis involving bones of the fingers NOT_TRANSLATED +HP:0009701 Fused long bones of hand NOT_TRANSLATED +HP:0009701 Synostosis involving metacarpal bones NOT_TRANSLATED +HP:0009701 Synostosis involving the metacarpal bones NOT_TRANSLATED +HP:0009702 Carpal bone fusion NOT_TRANSLATED +HP:0009702 Carpal fusion NOT_TRANSLATED +HP:0009702 Fused carpal bones NOT_TRANSLATED +HP:0009702 Fused wrist bones NOT_TRANSLATED +HP:0009702 Fusion of carpal bones NOT_TRANSLATED +HP:0009702 Synostosis involving the carpal bones NOT_TRANSLATED +HP:0009703 First metacarpophalangeal joint synostosis NOT_TRANSLATED +HP:0009703 Fusion involving 1st long bone of hand NOT_TRANSLATED +HP:0009703 Symphalangism affecting the 1st metacarpal NOT_TRANSLATED +HP:0009704 Chronic cerebrospinal fluid lymphocytosis NOT_TRANSLATED +HP:0009705 Fusion involving the 2nd long bone of hand NOT_TRANSLATED +HP:0009706 Fusion involving the 3rd long bone of hand NOT_TRANSLATED +HP:0009707 Fusion involving the 4th long bone of hand NOT_TRANSLATED +HP:0009708 Fusion involving the 5th long bone of hand NOT_TRANSLATED +HP:0009710 Chilblain lesions NOT_TRANSLATED +HP:0009711 Retinal hemangioblastoma NOT_TRANSLATED +HP:0009714 Abnormality of the epididymis NOT_TRANSLATED +HP:0009719 Hypomelanotic macules NOT_TRANSLATED +HP:0009720 Facial angiofibromas NOT_TRANSLATED +HP:0009720 Sebaceous adenoma NOT_TRANSLATED +HP:0009720 Sebaceous adenomas NOT_TRANSLATED +HP:0009722 Dental enamel pitting NOT_TRANSLATED +HP:0009722 Pitting of tooth enamel NOT_TRANSLATED +HP:0009722 Tooth enamel pits NOT_TRANSLATED +HP:0009724 Subungual fibroma NOT_TRANSLATED +HP:0009725 Bladder cancer NOT_TRANSLATED +HP:0009725 Bladder tumor NOT_TRANSLATED +HP:0009725 Bladder tumour NOT_TRANSLATED +HP:0009726 Kidney cancer NOT_TRANSLATED +HP:0009726 Neoplasia of the kidneys NOT_TRANSLATED +HP:0009726 Renal neoplasia NOT_TRANSLATED +HP:0009726 Renal tumors NOT_TRANSLATED +HP:0009726 Renal tumours NOT_TRANSLATED +HP:0009727 Punched out areas of chorioretinal hypopigmentation NOT_TRANSLATED +HP:0009728 Tumors of striated muscle NOT_TRANSLATED +HP:0009728 Tumours of striated muscle NOT_TRANSLATED +HP:0009731 Cerebral hamartomata NOT_TRANSLATED +HP:0009734 Optic glioma NOT_TRANSLATED +HP:0009736 Tibial pseudoarthrosis NOT_TRANSLATED +HP:0009737 Iris hamartomas NOT_TRANSLATED +HP:0009738 Abnormal antehelix NOT_TRANSLATED +HP:0009738 Abnormal anthelix NOT_TRANSLATED +HP:0009738 Abnormal antihelix NOT_TRANSLATED +HP:0009739 Hypoplastic antihelix NOT_TRANSLATED +HP:0009740 Abnormally small parotid gland NOT_TRANSLATED +HP:0009740 Absence of the parotid gland NOT_TRANSLATED +HP:0009740 Hypoplasia of parotid gland NOT_TRANSLATED +HP:0009740 Underdevelopment of parotid gland NOT_TRANSLATED +HP:0009741 Scarring of kidney arteries NOT_TRANSLATED +HP:0009741 Thickening of kidney artiries NOT_TRANSLATED +HP:0009743 Distichiasis of eyelid eyelashes NOT_TRANSLATED +HP:0009744 Abnormality of the spinal dura mater NOT_TRANSLATED +HP:0009745 Epidural arachnoid cysts of the spinal canal NOT_TRANSLATED +HP:0009746 Broad nasal septum NOT_TRANSLATED +HP:0009746 Broad septum of nose NOT_TRANSLATED +HP:0009746 Thick septum of nose NOT_TRANSLATED +HP:0009746 Wide nasal septum NOT_TRANSLATED +HP:0009746 Wide septum of nose NOT_TRANSLATED +HP:0009748 Fleshy earlobe NOT_TRANSLATED +HP:0009748 Fleshy earlobes NOT_TRANSLATED +HP:0009748 Prominent ear lobes NOT_TRANSLATED +HP:0009748 Prominent ear lobules NOT_TRANSLATED +HP:0009751 Absent pectoralis major muscle NOT_TRANSLATED +HP:0009752 Cleft in cranial base NOT_TRANSLATED +HP:0009754 Alveolar synechiae NOT_TRANSLATED +HP:0009754 Fusion of the alveolar ridges NOT_TRANSLATED +HP:0009755 Adhesion of eyelids NOT_TRANSLATED +HP:0009755 Ankyloblepharon filiforme adnatum NOT_TRANSLATED +HP:0009755 Eyelid synechiae NOT_TRANSLATED +HP:0009755 Eyelids stuck together NOT_TRANSLATED +HP:0009759 Neck pterygium NOT_TRANSLATED +HP:0009760 Pterygium cubitale NOT_TRANSLATED +HP:0009760 Webbed elbow NOT_TRANSLATED +HP:0009763 Pain in extremities NOT_TRANSLATED +HP:0009765 Columella extends below the ala nasi NOT_TRANSLATED +HP:0009765 Columella, low NOT_TRANSLATED +HP:0009765 Columella, low hanging NOT_TRANSLATED +HP:0009765 Extension of the columella below the ala nasi NOT_TRANSLATED +HP:0009765 Low-hanging columella NOT_TRANSLATED +HP:0009765 Prominent columella NOT_TRANSLATED +HP:0009765 Rounded columella NOT_TRANSLATED +HP:0009767 Aplastic/hypoplastic phalanges NOT_TRANSLATED +HP:0009767 Aplastic/hypoplastic phalanges of the hand NOT_TRANSLATED +HP:0009767 Hypoplastic/absent phalanges NOT_TRANSLATED +HP:0009768 Wide hand bones NOT_TRANSLATED +HP:0009768 Widening of phalanges of the hand NOT_TRANSLATED +HP:0009769 Bullet-shaped hand bones NOT_TRANSLATED +HP:0009769 Bullet-shaped phalanges of the hands NOT_TRANSLATED +HP:0009769 Conical bullet-shaped distal ends of phalanges NOT_TRANSLATED +HP:0009770 Curved hand bones NOT_TRANSLATED +HP:0009771 Acro-osteolysis NOT_TRANSLATED +HP:0009771 Acroosteolysis NOT_TRANSLATED +HP:0009771 Breakdown of small bones of fingers NOT_TRANSLATED +HP:0009772 Patchy sclerosis of the phalanges of the hand NOT_TRANSLATED +HP:0009772 Phalangeal sclerosis NOT_TRANSLATED +HP:0009772 Uneven increase in bone density in finger bone NOT_TRANSLATED +HP:0009773 Fused finger bones of the hand NOT_TRANSLATED +HP:0009773 Synostosis involving phalanges of the hand NOT_TRANSLATED +HP:0009774 Delta phalanx/delta-like phalanx NOT_TRANSLATED +HP:0009774 Triangular shaped hand bones NOT_TRANSLATED +HP:0009775 Amniotic bands NOT_TRANSLATED +HP:0009775 Amniotic constriction band NOT_TRANSLATED +HP:0009775 Congenital constriction band sequence NOT_TRANSLATED +HP:0009775 Pseudoainhum NOT_TRANSLATED +HP:0009776 Absent fingers or toes NOT_TRANSLATED +HP:0009776 Aphalangy NOT_TRANSLATED +HP:0009777 Absent thumbs NOT_TRANSLATED +HP:0009777 Aplasia of the thumb NOT_TRANSLATED +HP:0009777 Thumb aplasia NOT_TRANSLATED +HP:0009778 Hypoplastic thumb NOT_TRANSLATED +HP:0009778 Hypoplastic thumbs NOT_TRANSLATED +HP:0009778 Hypoplastic/small thumb NOT_TRANSLATED +HP:0009778 Short thumbs NOT_TRANSLATED +HP:0009778 Small thumbs NOT_TRANSLATED +HP:0009778 Thumb brachydactyly NOT_TRANSLATED +HP:0009778 Thumb hypoplasia NOT_TRANSLATED +HP:0009779 Webbed 3rd-4th toes NOT_TRANSLATED +HP:0009779 syndactyly of 3rd - 4th toes NOT_TRANSLATED +HP:0009782 Absent/small biceps NOT_TRANSLATED +HP:0009782 Absent/underdeveloped biceps NOT_TRANSLATED +HP:0009783 Absent biceps NOT_TRANSLATED +HP:0009784 Absent/small triceps NOT_TRANSLATED +HP:0009784 Absent/underdeveloped triceps NOT_TRANSLATED +HP:0009785 Absent triceps NOT_TRANSLATED +HP:0009786 Absent/small thigh muscles NOT_TRANSLATED +HP:0009786 Absent/underdeveloped thigh muscles NOT_TRANSLATED +HP:0009787 Absent/small quadriceps NOT_TRANSLATED +HP:0009787 Absent/underdeveloped quadriceps NOT_TRANSLATED +HP:0009788 Absent quads NOT_TRANSLATED +HP:0009793 Altman type IV sacrococcygeal teratoma NOT_TRANSLATED +HP:0009793 Retrorectal teratoma NOT_TRANSLATED +HP:0009794 Abnormality of branchial apparatus NOT_TRANSLATED +HP:0009794 Abnormality of branchial arch NOT_TRANSLATED +HP:0009794 Branchial abnormality NOT_TRANSLATED +HP:0009794 Branchial anomalies NOT_TRANSLATED +HP:0009795 Branchial cleft fistula NOT_TRANSLATED +HP:0009796 Branchial cleft cyst NOT_TRANSLATED +HP:0009796 Branchial cysts NOT_TRANSLATED +HP:0009798 Euthyroid goitre NOT_TRANSLATED +HP:0009799 Extra spleen NOT_TRANSLATED +HP:0009800 gestational diabetes NOT_TRANSLATED +HP:0009800 maternal hyperglycemia NOT_TRANSLATED +HP:0009802 Absent finger bone of the hand NOT_TRANSLATED +HP:0009803 Hypoplastic phalanges NOT_TRANSLATED +HP:0009803 Hypoplastic phalanges of hands NOT_TRANSLATED +HP:0009803 Hypoplastic/small phalanges of the hand NOT_TRANSLATED +HP:0009803 Phalangeal hypoplasia NOT_TRANSLATED +HP:0009803 Rudimentary phalanges NOT_TRANSLATED +HP:0009803 Short finger bones NOT_TRANSLATED +HP:0009803 Short phalanges NOT_TRANSLATED +HP:0009803 Shortened phalanges NOT_TRANSLATED +HP:0009804 Decreased number of teeth NOT_TRANSLATED +HP:0009804 Decreased tooth count NOT_TRANSLATED +HP:0009804 Dental agenesis NOT_TRANSLATED +HP:0009804 Failure of development of some teeth NOT_TRANSLATED +HP:0009804 Fewer teeth than normal NOT_TRANSLATED +HP:0009804 Missing some teeth NOT_TRANSLATED +HP:0009804 Reduced number of teeth NOT_TRANSLATED +HP:0009804 Teeth, agenesis NOT_TRANSLATED +HP:0009808 Abnormality involving the diaphyses of the upper limbs NOT_TRANSLATED +HP:0009808 Abnormality of shaft of long bone of the upper limbs NOT_TRANSLATED +HP:0009808 Diaphyseal abnormality of the upper limbs NOT_TRANSLATED +HP:0009809 Abnormality of the wide portion of upper limb bone NOT_TRANSLATED +HP:0009809 Abnormality of upper limb metaphysis NOT_TRANSLATED +HP:0009809 Metaphyseal abnormality of the upper limbs NOT_TRANSLATED +HP:0009810 Abnormality of the joints of the upper limbs NOT_TRANSLATED +HP:0009811 Abnormality of the elbows NOT_TRANSLATED +HP:0009815 Absent/small extremities NOT_TRANSLATED +HP:0009815 Absent/underdeveloped extremities NOT_TRANSLATED +HP:0009815 Short or absent limbs NOT_TRANSLATED +HP:0009815 Shortened limbs NOT_TRANSLATED +HP:0009816 Hypoplasia involving bones of the lower limbs NOT_TRANSLATED +HP:0009816 Hypoplasia of the lower limbs NOT_TRANSLATED +HP:0009816 Underdeveloped lower limb bones NOT_TRANSLATED +HP:0009817 Absent bones of the lower limbs NOT_TRANSLATED +HP:0009821 Hypoplasia involving forearm bones NOT_TRANSLATED +HP:0009821 Short forearm bones NOT_TRANSLATED +HP:0009821 Short forearms NOT_TRANSLATED +HP:0009821 Shortened forearm NOT_TRANSLATED +HP:0009822 Absent forearm bones NOT_TRANSLATED +HP:0009823 Absent bones of the upper limbs NOT_TRANSLATED +HP:0009824 Hypoplasia involving bones of the upper limbs NOT_TRANSLATED +HP:0009824 Short arms NOT_TRANSLATED +HP:0009824 Shortening of the arms NOT_TRANSLATED +HP:0009825 Absent bones of the extremities NOT_TRANSLATED +HP:0009826 Hypoplasia involving bones of the extremities NOT_TRANSLATED +HP:0009826 Short limb NOT_TRANSLATED +HP:0009826 Short limbs NOT_TRANSLATED +HP:0009826 limb shortening NOT_TRANSLATED +HP:0009830 Neuropathy NOT_TRANSLATED +HP:0009830 Peripheral nerve damage NOT_TRANSLATED +HP:0009830 Peripheral neuritis NOT_TRANSLATED +HP:0009831 Single damaged nerve NOT_TRANSLATED +HP:0009832 Abnormal terminal phalanges of the hand NOT_TRANSLATED +HP:0009832 Abnormality of the distal phalanges of the hand NOT_TRANSLATED +HP:0009832 Abnormality of the distal phalanx of finger NOT_TRANSLATED +HP:0009832 Abnormality of the outermost finger bone NOT_TRANSLATED +HP:0009833 Abnormality of the middle finger bones of the hand NOT_TRANSLATED +HP:0009833 Abnormality of the middle phalanges of the hand NOT_TRANSLATED +HP:0009834 Abnormality of the innermost finger bones of the hand NOT_TRANSLATED +HP:0009834 Abnormality of the proximal phalanges of the hand NOT_TRANSLATED +HP:0009835 Absent/hypoplastic distal phalanges NOT_TRANSLATED +HP:0009835 Absent/small outermost finger bone of the hand NOT_TRANSLATED +HP:0009835 Absent/underdeveloped outermost finger bone of the hand NOT_TRANSLATED +HP:0009835 Aplasia/Hypoplasia of the distal phalanges NOT_TRANSLATED +HP:0009835 Aplastic/hypoplastic distal phalanges NOT_TRANSLATED +HP:0009835 Hypoplastic to absent terminal phalanges NOT_TRANSLATED +HP:0009835 Hypoplastic/aplastic distal phalanges NOT_TRANSLATED +HP:0009835 Hypoplastic/aplastic distal phalanx NOT_TRANSLATED +HP:0009835 Small or absent distal phalanges NOT_TRANSLATED +HP:0009836 Broad distal phalanges NOT_TRANSLATED +HP:0009836 Broad distal phalanges of the hand NOT_TRANSLATED +HP:0009836 Broad distal phalanx NOT_TRANSLATED +HP:0009836 Broad outermost finger bone NOT_TRANSLATED +HP:0009836 Broad terminal phalanges NOT_TRANSLATED +HP:0009836 Broad, square ends of distal phalanges NOT_TRANSLATED +HP:0009836 Spatulate terminal phalanges NOT_TRANSLATED +HP:0009837 Bullet-shaped outermost finger bone of the hand NOT_TRANSLATED +HP:0009838 Curved outermost finger bone of the hand NOT_TRANSLATED +HP:0009839 Acro-osteolysis of distal phalanges NOT_TRANSLATED +HP:0009839 Acroosteolysis of distal phalanges NOT_TRANSLATED +HP:0009839 Osteolytic defects of the outermost finger bone of the hand NOT_TRANSLATED +HP:0009840 Patchy sclerosis of the distal phalanges of the hand NOT_TRANSLATED +HP:0009840 Uneven increase in bone density in outermost finger bone NOT_TRANSLATED +HP:0009843 Absent/hypoplastic middle phalanges NOT_TRANSLATED +HP:0009843 Absent/small middle finger bone of the hand NOT_TRANSLATED +HP:0009843 Absent/underdeveloped middle finger bone of the hand NOT_TRANSLATED +HP:0009843 Aplasia/hypoplasia of middle phalanges NOT_TRANSLATED +HP:0009843 Aplastic/hypoplastic middle phalanges NOT_TRANSLATED +HP:0009843 Hypoplastic/aplastic middle phalanx NOT_TRANSLATED +HP:0009843 Short to absent middle phalanges NOT_TRANSLATED +HP:0009843 Short/absent middle phalanges NOT_TRANSLATED +HP:0009844 Broad middle finger bones NOT_TRANSLATED +HP:0009844 Broad middle phalanges of finger NOT_TRANSLATED +HP:0009844 Broad middle phalanges of the hand NOT_TRANSLATED +HP:0009846 Curved middle finger bonds of the hand NOT_TRANSLATED +HP:0009848 Patchy sclerosis of the middle phalanges of the hand NOT_TRANSLATED +HP:0009848 Uneven increase in bone density in the middle finger bones of the hand NOT_TRANSLATED +HP:0009849 Fused middle finger bone NOT_TRANSLATED +HP:0009850 Triangular shaped middle finger bones of the hand NOT_TRANSLATED +HP:0009851 Absent/small innermost finger bones of the hand NOT_TRANSLATED +HP:0009851 Absent/underdeveloped innermost finger bones of the hand NOT_TRANSLATED +HP:0009852 Broad innermost finger bones of the hand NOT_TRANSLATED +HP:0009852 Wide innermost finger bones of the hand NOT_TRANSLATED +HP:0009853 Bullet-shaped innermost finger bones of the hand NOT_TRANSLATED +HP:0009854 Curved innermost finger bones of the hand NOT_TRANSLATED +HP:0009855 Proximal phalanges osteolysis NOT_TRANSLATED +HP:0009856 Patchy sclerosis of the proximal phalanges of the hand NOT_TRANSLATED +HP:0009856 Uneven increase in bone density in innermost finger bone NOT_TRANSLATED +HP:0009857 Fused innermost hand bones NOT_TRANSLATED +HP:0009858 Triangular shaped innermost finger bone NOT_TRANSLATED +HP:0009875 Triangular shaped outermost bone of the hand NOT_TRANSLATED +HP:0009879 Cortical gyral simplification NOT_TRANSLATED +HP:0009880 Broad outermost hand bones NOT_TRANSLATED +HP:0009881 Absent distal phalanges of the hand NOT_TRANSLATED +HP:0009881 Absent outermost hand bone NOT_TRANSLATED +HP:0009881 Aplasia of outermost hand bone NOT_TRANSLATED +HP:0009882 Brachytelophalangy NOT_TRANSLATED +HP:0009882 Distal phalangeal hypoplasia NOT_TRANSLATED +HP:0009882 Hypoplasia of the distal phalanges NOT_TRANSLATED +HP:0009882 Hypoplasia of the distal phalanges of the hand NOT_TRANSLATED +HP:0009882 Hypoplasic terminal phalanges NOT_TRANSLATED +HP:0009882 Hypoplastic distal phalanges NOT_TRANSLATED +HP:0009882 Hypoplastic terminal phalanges NOT_TRANSLATED +HP:0009882 Short distal phalanges NOT_TRANSLATED +HP:0009882 Short outermost finger bone NOT_TRANSLATED +HP:0009882 Terminal phalangeal hypoplasia of hand NOT_TRANSLATED +HP:0009883 Bifid terminal phalanges NOT_TRANSLATED +HP:0009883 Duplication of the outermost bone of hand NOT_TRANSLATED +HP:0009883 Notched outermost bone of hand NOT_TRANSLATED +HP:0009883 Partial/complete duplication of the distal phalanges of the hand NOT_TRANSLATED +HP:0009884 Tapered distal phalanges NOT_TRANSLATED +HP:0009884 Tapered distal phalanges of the hand NOT_TRANSLATED +HP:0009884 Tapered outermost finger bone NOT_TRANSLATED +HP:0009887 Abnormality of hair color NOT_TRANSLATED +HP:0009887 Abnormality of hair colour NOT_TRANSLATED +HP:0009889 Localised abnormal hair growth NOT_TRANSLATED +HP:0009889 Localised hirsutism NOT_TRANSLATED +HP:0009889 Localized abnormal hair growth NOT_TRANSLATED +HP:0009890 High frontal hairline NOT_TRANSLATED +HP:0009891 Depressed supraorbital margins NOT_TRANSLATED +HP:0009891 Depressed supraorbital ridge NOT_TRANSLATED +HP:0009891 Flat supraorbital margins NOT_TRANSLATED +HP:0009891 Flat supraorbital ridge NOT_TRANSLATED +HP:0009891 Flattened bony protrusion above eyes NOT_TRANSLATED +HP:0009891 Hypoplasia of supraorbital margins NOT_TRANSLATED +HP:0009891 Hypoplasia of the supraorbital ridges NOT_TRANSLATED +HP:0009891 Hypoplastic supraorbital ridges NOT_TRANSLATED +HP:0009891 Shallow orbital ridges NOT_TRANSLATED +HP:0009891 Shallow supraorbital ridge NOT_TRANSLATED +HP:0009891 Underdeveloped brows NOT_TRANSLATED +HP:0009892 Absent ear NOT_TRANSLATED +HP:0009892 Absent ears NOT_TRANSLATED +HP:0009892 Congenital absence of external ear NOT_TRANSLATED +HP:0009895 Abnormality of the crus of the ear NOT_TRANSLATED +HP:0009897 Helix, crus, horizontal NOT_TRANSLATED +HP:0009897 Horizontal orientation of the crus of helix NOT_TRANSLATED +HP:0009897 Horizontal orientation of the ear crus NOT_TRANSLATED +HP:0009897 Railroad track ears NOT_TRANSLATED +HP:0009897 Railroad track sign NOT_TRANSLATED +HP:0009898 Hypoplasia of the crus of the ear NOT_TRANSLATED +HP:0009898 Underdeveloped crus of the ear NOT_TRANSLATED +HP:0009899 Abnormal prominence of the crus of the ear NOT_TRANSLATED +HP:0009899 Helix, crus, prominent NOT_TRANSLATED +HP:0009899 Hyperplastic helix crus NOT_TRANSLATED +HP:0009899 Hypertrophic helix crus NOT_TRANSLATED +HP:0009900 Deafness in one ear NOT_TRANSLATED +HP:0009900 Deafness, unilateral NOT_TRANSLATED +HP:0009902 Notched helix NOT_TRANSLATED +HP:0009902 Notching of the ear helix NOT_TRANSLATED +HP:0009904 Large helix NOT_TRANSLATED +HP:0009906 Absent/small ear lobes NOT_TRANSLATED +HP:0009906 Absent/underdeveloped ear lobes NOT_TRANSLATED +HP:0009907 Adherent earlobe NOT_TRANSLATED +HP:0009908 Earlobe crease NOT_TRANSLATED +HP:0009908 Transverse earlobe creases NOT_TRANSLATED +HP:0009909 Fleshy upturned lobules NOT_TRANSLATED +HP:0009909 Lobe, uplifted NOT_TRANSLATED +HP:0009909 Uplifted earlobes NOT_TRANSLATED +HP:0009909 Upturned earlobe NOT_TRANSLATED +HP:0009909 Upturned earlobes NOT_TRANSLATED +HP:0009910 Absent middle ear bones NOT_TRANSLATED +HP:0009910 Absent middle ear ossicles NOT_TRANSLATED +HP:0009911 Abnormality of the temporal bone NOT_TRANSLATED +HP:0009912 Abnormality of the tragus NOT_TRANSLATED +HP:0009913 Absent/small tragus NOT_TRANSLATED +HP:0009913 Absent/underdeveloped tragus NOT_TRANSLATED +HP:0009914 Cyclops eye NOT_TRANSLATED +HP:0009914 Single central eye NOT_TRANSLATED +HP:0009915 Asymmetry of the corneas NOT_TRANSLATED +HP:0009916 Asymmetric pupil sizes NOT_TRANSLATED +HP:0009916 Asymmetry of the pupils NOT_TRANSLATED +HP:0009916 Unequal pupil dilatation NOT_TRANSLATED +HP:0009916 Unequal pupil size NOT_TRANSLATED +HP:0009918 Corectopia NOT_TRANSLATED +HP:0009918 Displaced pupil NOT_TRANSLATED +HP:0009919 Retina tumor NOT_TRANSLATED +HP:0009919 Retina tumour NOT_TRANSLATED +HP:0009920 Congenital melanosis bulbi NOT_TRANSLATED +HP:0009920 Naevus fuscoceruleus ophthalmomaxillaris NOT_TRANSLATED +HP:0009920 Nevus fuscoceruleus ophthalmomaxillaris NOT_TRANSLATED +HP:0009920 Oculodermal melanocytosis NOT_TRANSLATED +HP:0009921 Globe retraction and deviation on adduction NOT_TRANSLATED +HP:0009921 Limited eye motility from Duane anomaly NOT_TRANSLATED +HP:0009921 Limited eye movement from Duane anomaly NOT_TRANSLATED +HP:0009922 Persistence of the hyaloid artery NOT_TRANSLATED +HP:0009922 Persistent hyaloid artery NOT_TRANSLATED +HP:0009924 Decreased nasal size NOT_TRANSLATED +HP:0009924 Decreased size of nose NOT_TRANSLATED +HP:0009924 Hypoplasia of the nose NOT_TRANSLATED +HP:0009924 Hypotrophic nose NOT_TRANSLATED +HP:0009926 Increased lacrimation NOT_TRANSLATED +HP:0009926 Increased tears NOT_TRANSLATED +HP:0009926 Tearing NOT_TRANSLATED +HP:0009926 Watery eyes NOT_TRANSLATED +HP:0009927 Absent nose NOT_TRANSLATED +HP:0009927 Arrhinia NOT_TRANSLATED +HP:0009927 Failure of development of nose NOT_TRANSLATED +HP:0009927 Missing nose NOT_TRANSLATED +HP:0009927 Nasal underdevelopment NOT_TRANSLATED +HP:0009927 Underdevelopment of nose NOT_TRANSLATED +HP:0009928 Ala nasi, thick NOT_TRANSLATED +HP:0009928 Thickening of the alae nasi NOT_TRANSLATED +HP:0009929 Abnormality of the columella NOT_TRANSLATED +HP:0009929 Anomaly of the columella NOT_TRANSLATED +HP:0009929 Deformity of the columella NOT_TRANSLATED +HP:0009929 Malformation of the columella NOT_TRANSLATED +HP:0009930 Asymmetry of nostrils NOT_TRANSLATED +HP:0009930 Crooked nostrils NOT_TRANSLATED +HP:0009930 Unequal nostril shape NOT_TRANSLATED +HP:0009930 Unequal nostril size NOT_TRANSLATED +HP:0009930 Uneven nostril shape NOT_TRANSLATED +HP:0009930 Uneven nostril size NOT_TRANSLATED +HP:0009931 Broad nostril NOT_TRANSLATED +HP:0009931 Dilated nares NOT_TRANSLATED +HP:0009931 Dilated nostril NOT_TRANSLATED +HP:0009931 Enlarged nares NOT_TRANSLATED +HP:0009931 Enlarged nostril NOT_TRANSLATED +HP:0009931 Increased diameter of nares NOT_TRANSLATED +HP:0009931 Increased diameter of nostril NOT_TRANSLATED +HP:0009931 Increased width of nares NOT_TRANSLATED +HP:0009931 Large nares NOT_TRANSLATED +HP:0009931 Naris, broad NOT_TRANSLATED +HP:0009931 Naris, enlarged NOT_TRANSLATED +HP:0009931 Wide nares NOT_TRANSLATED +HP:0009931 Wide nostril NOT_TRANSLATED +HP:0009932 Mono nostril NOT_TRANSLATED +HP:0009932 One nostril NOT_TRANSLATED +HP:0009932 Single nare NOT_TRANSLATED +HP:0009932 Single nostril NOT_TRANSLATED +HP:0009933 Collapsed nostrils NOT_TRANSLATED +HP:0009933 Naris, narrow NOT_TRANSLATED +HP:0009933 Naris, slit-like NOT_TRANSLATED +HP:0009933 Narrow nares NOT_TRANSLATED +HP:0009933 Narrow nostrils NOT_TRANSLATED +HP:0009933 Slit-like nostrils NOT_TRANSLATED +HP:0009933 Small nostrils NOT_TRANSLATED +HP:0009933 Thin nares NOT_TRANSLATED +HP:0009933 Thin nostrils NOT_TRANSLATED +HP:0009934 Accessory nares NOT_TRANSLATED +HP:0009934 Accessory nostril NOT_TRANSLATED +HP:0009934 Extra nostril NOT_TRANSLATED +HP:0009934 Supernumerary nares NOT_TRANSLATED +HP:0009934 Supernumerary nostrils NOT_TRANSLATED +HP:0009935 Ageneis of nasal septum NOT_TRANSLATED +HP:0009935 Failure of development of nasal septum NOT_TRANSLATED +HP:0009935 Underdevelopment of nasal septum NOT_TRANSLATED +HP:0009936 Decreased width of nasal septum NOT_TRANSLATED +HP:0009936 Narrow septum of nose NOT_TRANSLATED +HP:0009936 Thin nasal septum NOT_TRANSLATED +HP:0009936 Thin septum of nose NOT_TRANSLATED +HP:0009937 Excessive face hair NOT_TRANSLATED +HP:0009938 Depressed cheeks NOT_TRANSLATED +HP:0009938 Hollow cheeks NOT_TRANSLATED +HP:0009939 Absence of lower jaw NOT_TRANSLATED +HP:0009939 Absence of lower jaw bone NOT_TRANSLATED +HP:0009939 Absence of lower jaw bones NOT_TRANSLATED +HP:0009939 Absence of mandible NOT_TRANSLATED +HP:0009939 Absent mandible NOT_TRANSLATED +HP:0009939 Agenesis of the mandible NOT_TRANSLATED +HP:0009939 Agnathia NOT_TRANSLATED +HP:0009939 Aplasia of the lower jaw bone NOT_TRANSLATED +HP:0009939 Failure of development of lower jaw NOT_TRANSLATED +HP:0009939 Failure of development of mandible NOT_TRANSLATED +HP:0009939 Missing lower jaw NOT_TRANSLATED +HP:0009940 Asymmetry of lower jaw NOT_TRANSLATED +HP:0009940 Canted lower jaw NOT_TRANSLATED +HP:0009940 Canted mandible NOT_TRANSLATED +HP:0009940 Crooked lower jaw NOT_TRANSLATED +HP:0009940 Deviation of lower jaw NOT_TRANSLATED +HP:0009940 Deviation of mandible NOT_TRANSLATED +HP:0009940 Deviation of the lower jaw NOT_TRANSLATED +HP:0009940 Deviation of the mandible NOT_TRANSLATED +HP:0009940 Lower jaw shifted to one side NOT_TRANSLATED +HP:0009940 Tilted lower jaw NOT_TRANSLATED +HP:0009940 Tilted mandible NOT_TRANSLATED +HP:0009940 Uneven lower jaw NOT_TRANSLATED +HP:0009940 Uneven mandible NOT_TRANSLATED +HP:0009941 Asymmetry of oral cavity NOT_TRANSLATED +HP:0009941 Canted mouth NOT_TRANSLATED +HP:0009941 Crooked mouth NOT_TRANSLATED +HP:0009941 Tilted mouth NOT_TRANSLATED +HP:0009941 Uneven mouth NOT_TRANSLATED +HP:0009942 Complete/partial duplication of phalanges of the thumb NOT_TRANSLATED +HP:0009942 Duplicated thumb NOT_TRANSLATED +HP:0009942 Duplicated thumbs NOT_TRANSLATED +HP:0009942 Duplication of phalanx of thumb NOT_TRANSLATED +HP:0009943 Complete duplication of the phalanges of the thumb NOT_TRANSLATED +HP:0009943 Complete duplication of thumb bones NOT_TRANSLATED +HP:0009943 Digitalization of thumb NOT_TRANSLATED +HP:0009943 Digitalization of thumbs NOT_TRANSLATED +HP:0009944 Bifid thumb NOT_TRANSLATED +HP:0009944 Notching of thumb phalanges NOT_TRANSLATED +HP:0009944 Partial duplication of the phalanges of the thumb NOT_TRANSLATED +HP:0009944 Partial duplication of the thumb bones NOT_TRANSLATED +HP:0009945 Duplication of the bones of index finger NOT_TRANSLATED +HP:0009945 Partial/complete duplication of phalanges of the 2nd finger NOT_TRANSLATED +HP:0009946 Extra index finger NOT_TRANSLATED +HP:0009947 Duplication of the proximal bone of the index finger NOT_TRANSLATED +HP:0009947 Partial/complete duplication of the proximal phalanx of the 2nd finger NOT_TRANSLATED +HP:0009948 Partial/complete duplication of the distal phalanx of the 2nd finger NOT_TRANSLATED +HP:0009948 Partial/complete duplication of the outermost bone of the index finger NOT_TRANSLATED +HP:0009949 Partial/complete duplication of the middle bone of the index finger NOT_TRANSLATED +HP:0009949 Partial/complete duplication of the middle phalanx of the 2nd finger NOT_TRANSLATED +HP:0009950 Complete duplication of the outermost bone of the index finger NOT_TRANSLATED +HP:0009951 Bifid terminal phalanx of the 2nd finger NOT_TRANSLATED +HP:0009951 Notched outermost bone of the index finger NOT_TRANSLATED +HP:0009951 Partial duplication of the outermost bone of the 2nd finger NOT_TRANSLATED +HP:0009952 Complete duplication of the middle bone of the index finger NOT_TRANSLATED +HP:0009953 Partial duplication of the middle bone of the index finger NOT_TRANSLATED +HP:0009954 Complete duplication of the proximal bone of the index finger NOT_TRANSLATED +HP:0009955 Partial duplication of the proximal bones of the index finger NOT_TRANSLATED +HP:0009956 Partial duplication of the bones of the index finger NOT_TRANSLATED +HP:0009957 Complete duplication of the bones of the index finger NOT_TRANSLATED +HP:0009958 Extra middle finger NOT_TRANSLATED +HP:0009959 Duplication of middle finger bone NOT_TRANSLATED +HP:0009959 Partial/complete duplication of phalanges of the 3rd finger NOT_TRANSLATED +HP:0009960 Complete duplication of middle finger bones NOT_TRANSLATED +HP:0009961 Partial duplication of middle finger bones NOT_TRANSLATED +HP:0009962 Partial/complete duplication of the distal phalanx of the 3rd finger NOT_TRANSLATED +HP:0009962 Partial/complete duplication of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009963 Duplication of the middle bone of the middle finger NOT_TRANSLATED +HP:0009963 Partial/complete duplication of the middle phalanx of the 3rd finger NOT_TRANSLATED +HP:0009964 Duplication of the proximal bone of the middle finger NOT_TRANSLATED +HP:0009964 Partial/complete duplication of the proximal phalanx of the 3rd finger NOT_TRANSLATED +HP:0009965 Complete duplication of the outermost bone of the 3rd finger NOT_TRANSLATED +HP:0009966 Complete duplication of the middle bone of the middle finger NOT_TRANSLATED +HP:0009967 Complete duplication of the innermost bone of the 3rd finger NOT_TRANSLATED +HP:0009968 Bifid terminal phalanx of the 3rd finger NOT_TRANSLATED +HP:0009968 Notched outermost bone of the middle finger NOT_TRANSLATED +HP:0009968 Partial duplication of the outermost bone of the middle finger NOT_TRANSLATED +HP:0009969 Partial duplication of the middle bone of the 3rd finger NOT_TRANSLATED +HP:0009970 Partial duplication of the proximal bone of the middle finger NOT_TRANSLATED +HP:0009971 Extra ring finger NOT_TRANSLATED +HP:0009972 Duplication of bones of the ring finger NOT_TRANSLATED +HP:0009972 Partial/complete duplication of phalanges of the 4th finger NOT_TRANSLATED +HP:0009973 Complete duplication of the bones of the ring finger NOT_TRANSLATED +HP:0009974 Partial duplication of the bones of the ring finger NOT_TRANSLATED +HP:0009975 Partial/complete duplication of the distal phalanx of the 4th finger NOT_TRANSLATED +HP:0009975 Partial/complete duplication of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009976 Partial/complete duplication of the middle bone of the ring finger NOT_TRANSLATED +HP:0009976 Partial/complete duplication of the middle phalanx of the 4th finger NOT_TRANSLATED +HP:0009977 Duplication of the proximal bone of the ring finger NOT_TRANSLATED +HP:0009977 Partial/complete duplication of the proximal phalanx of the 4th finger NOT_TRANSLATED +HP:0009978 Complete duplication of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009979 Complete duplication of the middle bone of the ring finger NOT_TRANSLATED +HP:0009980 Complete duplication of the proximal bone of the ring finger NOT_TRANSLATED +HP:0009981 Bifid terminal phalanx of the 4th finger NOT_TRANSLATED +HP:0009981 Notched outermost bone of the ring finger NOT_TRANSLATED +HP:0009981 Partial duplication of the outermost bone of the ring finger NOT_TRANSLATED +HP:0009982 Partial duplication of the middle bone of the ring finger NOT_TRANSLATED +HP:0009983 Partial duplication of the innermost bone of the ring finger NOT_TRANSLATED +HP:0009985 Partial/complete duplication of little finger bone NOT_TRANSLATED +HP:0009985 Partial/complete duplication of phalanges of the 5th finger NOT_TRANSLATED +HP:0009985 Partial/complete duplication of pinkie finger bone NOT_TRANSLATED +HP:0009985 Partial/complete duplication of pinky finger bone NOT_TRANSLATED +HP:0009986 Complete duplication of the little finger bone NOT_TRANSLATED +HP:0009986 Complete duplication of the pinkie finger bone NOT_TRANSLATED +HP:0009986 Complete duplication of the pinky finger bone NOT_TRANSLATED +HP:0009987 Partial duplication of the little finger bone NOT_TRANSLATED +HP:0009987 Partial duplication of the pinkie finger bone NOT_TRANSLATED +HP:0009987 Partial duplication of the pinky finger bone NOT_TRANSLATED +HP:0009988 Duplication of the outermost little finger bone NOT_TRANSLATED +HP:0009988 Duplication of the outermost pinkie finger bone NOT_TRANSLATED +HP:0009988 Duplication of the outermost pinky finger bone NOT_TRANSLATED +HP:0009988 Partial/complete duplication of the distal phalanx of the 5th finger NOT_TRANSLATED +HP:0009989 Duplication of the middle little finger bone NOT_TRANSLATED +HP:0009989 Duplication of the middle pinkie finger bone NOT_TRANSLATED +HP:0009989 Duplication of the middle pinky finger bone NOT_TRANSLATED +HP:0009989 Partial/complete duplication of the middle phalanx of the 5th finger NOT_TRANSLATED +HP:0009990 Duplication of the innermost little finger bone NOT_TRANSLATED +HP:0009990 Duplication of the innermost pinkie finger bone NOT_TRANSLATED +HP:0009990 Duplication of the innermost pinky finger bone NOT_TRANSLATED +HP:0009990 Partial/complete duplication of the proximal phalanx of the 5th finger NOT_TRANSLATED +HP:0009991 Complete duplication of the outermost little finger bone NOT_TRANSLATED +HP:0009991 Complete duplication of the outermost pinkie finger bone NOT_TRANSLATED +HP:0009991 Complete duplication of the outermost pinky finger bone NOT_TRANSLATED +HP:0009992 Complete duplication of the middle little finger bone NOT_TRANSLATED +HP:0009992 Complete duplication of the middle pinkie finger bone NOT_TRANSLATED +HP:0009992 Complete duplication of the middle pinky finger bone NOT_TRANSLATED +HP:0009993 Complete duplication of the innermost little finger bone NOT_TRANSLATED +HP:0009993 Complete duplication of the innermost pinkie finger bone NOT_TRANSLATED +HP:0009993 Complete duplication of the innermost pinky finger bone NOT_TRANSLATED +HP:0009994 Bifid terminal phalanx of the 5th finger NOT_TRANSLATED +HP:0009994 Notched outermost pinky finger bone NOT_TRANSLATED +HP:0009994 Partial duplication of outermost little finger bone NOT_TRANSLATED +HP:0009994 Partial duplication of outermost pinkie finger bone NOT_TRANSLATED +HP:0009994 Partial duplication of outermost pinky finger bone NOT_TRANSLATED +HP:0009995 Partial duplication of the middle little finger bone NOT_TRANSLATED +HP:0009995 Partial duplication of the middle pinkie finger bone NOT_TRANSLATED +HP:0009995 Partial duplication of the middle pinky finger bone NOT_TRANSLATED +HP:0009996 Partial duplication of the innermost little finger bone NOT_TRANSLATED +HP:0009996 Partial duplication of the innermost pinkie finger bone NOT_TRANSLATED +HP:0009996 Partial duplication of the innermost pinky finger bone NOT_TRANSLATED +HP:0009997 Duplication of finger bones NOT_TRANSLATED +HP:0009998 Complete duplication of hand bones NOT_TRANSLATED +HP:0009999 Partial duplication of hand bones NOT_TRANSLATED +HP:0010000 Complete duplication of the innermost bones of the hand NOT_TRANSLATED +HP:0010001 Complete duplication of the outermost bones of the hand NOT_TRANSLATED +HP:0010002 Complete duplication of the middle bones of the hand NOT_TRANSLATED +HP:0010003 Partial duplication of the innermost bones of the hand NOT_TRANSLATED +HP:0010004 Bifid terminal phalanges of the hand NOT_TRANSLATED +HP:0010004 Partial duplication of the outermost bone of the hand NOT_TRANSLATED +HP:0010005 Partial duplication of the middle bones of hand NOT_TRANSLATED +HP:0010006 Duplication of the innermost bones of hand NOT_TRANSLATED +HP:0010006 Partial/complete duplication of the proximal phalanges of the hand NOT_TRANSLATED +HP:0010008 Duplication of the middle bones of hand NOT_TRANSLATED +HP:0010008 Partial/complete duplication of the middle phalanges of the hand NOT_TRANSLATED +HP:0010009 Abnormality of the 1st long bone of hand NOT_TRANSLATED +HP:0010009 Abnormality of the 1st metacarpal NOT_TRANSLATED +HP:0010010 Abnormality of the 2nd long bone of hand NOT_TRANSLATED +HP:0010010 Abnormality of the 2nd metacarpal NOT_TRANSLATED +HP:0010011 Abnormality of the 3rd long bone of hand NOT_TRANSLATED +HP:0010011 Abnormality of the 3rd metacarpal NOT_TRANSLATED +HP:0010012 Abnormality of the 4th long bone of hand NOT_TRANSLATED +HP:0010012 Abnormality of the 4th metacarpal NOT_TRANSLATED +HP:0010013 Abnormality of the 5th long bone of hand NOT_TRANSLATED +HP:0010013 Abnormality of the 5th metacarpal NOT_TRANSLATED +HP:0010014 Abnormality of the end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010015 Absent end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010016 Bracket shaped end part of 1st long bone of hand NOT_TRANSLATED +HP:0010017 Cone-shaped end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010018 Enlarged end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010019 Fragmentation of the end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010020 Irregular end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010021 Increased bone density of end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010023 Small end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010024 Speckled calcifications in the end part of the first long bone of hand NOT_TRANSLATED +HP:0010024 Stippling of the epiphysis of the 1st metacarpal NOT_TRANSLATED +HP:0010025 Triangular end part of the 1st long bone of hand NOT_TRANSLATED +HP:0010026 Absent/small 1st long bone of hand NOT_TRANSLATED +HP:0010026 Absent/underdeveloped 1st long bone of hand NOT_TRANSLATED +HP:0010027 Wide 1st long bone of hand NOT_TRANSLATED +HP:0010028 Bullet-shaped 1st long bone of hand NOT_TRANSLATED +HP:0010029 Curved 1st long bone of hand NOT_TRANSLATED +HP:0010031 Uneven increase in bone density in 1st long bone of hand NOT_TRANSLATED +HP:0010033 Triangular shaped 1st long bone of hand NOT_TRANSLATED +HP:0010034 First metacarpal hypoplasia NOT_TRANSLATED +HP:0010034 First metacarpals hypoplastic NOT_TRANSLATED +HP:0010034 Hypoplastic 1st metacarpal NOT_TRANSLATED +HP:0010034 Short first metacarpal NOT_TRANSLATED +HP:0010034 Short first metacarpals NOT_TRANSLATED +HP:0010034 Shortened 1st long bone of hand NOT_TRANSLATED +HP:0010035 Absent 1st long bone of hand NOT_TRANSLATED +HP:0010035 Absent first metacarpal NOT_TRANSLATED +HP:0010036 Absent/small 2nd long bone of hand NOT_TRANSLATED +HP:0010036 Absent/underdeveloped 2nd long bone of hand NOT_TRANSLATED +HP:0010037 Absent 2nd long bone of hand NOT_TRANSLATED +HP:0010038 Hypoplastic 2nd metacarpal NOT_TRANSLATED +HP:0010038 Rudimentary 2nd metacarpal NOT_TRANSLATED +HP:0010038 Shortened 2nd long bone of hand NOT_TRANSLATED +HP:0010039 Absent/small 3rd long bone of hand NOT_TRANSLATED +HP:0010039 Absent/underdeveloped 3rd long bone of hand NOT_TRANSLATED +HP:0010040 Absent 3rd long bone of hand NOT_TRANSLATED +HP:0010041 Hypoplastic 3rd metacarpal NOT_TRANSLATED +HP:0010041 Short third metacarpals NOT_TRANSLATED +HP:0010041 Shortened 3rd long bone of hand NOT_TRANSLATED +HP:0010041 Small 3rd metacarpals NOT_TRANSLATED +HP:0010042 Absent/small 4th long bone of hand NOT_TRANSLATED +HP:0010042 Absent/underdeveloped 4th long bone of hand NOT_TRANSLATED +HP:0010043 Absent 4th long bone of hand NOT_TRANSLATED +HP:0010044 Hypoplastic fourth metacarpal NOT_TRANSLATED +HP:0010044 Short 4th metacarpals NOT_TRANSLATED +HP:0010044 Short fourth metacarpals NOT_TRANSLATED +HP:0010044 Shortened 4th long bone of hand NOT_TRANSLATED +HP:0010045 Absent/small 5th long bone of hand NOT_TRANSLATED +HP:0010045 Absent/underdeveloped 5th long bone of hand NOT_TRANSLATED +HP:0010046 Absent 5th long bone of hand NOT_TRANSLATED +HP:0010046 Absent 5th metacarpal NOT_TRANSLATED +HP:0010047 Fifth metacarpal hypoplasia NOT_TRANSLATED +HP:0010047 Hypoplastic 5th metacarpal NOT_TRANSLATED +HP:0010047 Short fifth metacarpal NOT_TRANSLATED +HP:0010047 Short fifth metacarpals NOT_TRANSLATED +HP:0010047 Shortened 5th long bone of hand NOT_TRANSLATED +HP:0010048 Absent long bone of hand NOT_TRANSLATED +HP:0010048 Absent metacarpal NOT_TRANSLATED +HP:0010048 Absent metacarpals NOT_TRANSLATED +HP:0010049 Brachymetacarpalia NOT_TRANSLATED +HP:0010049 Hypoplastic metacarpal NOT_TRANSLATED +HP:0010049 Metacarpal hypoplasia NOT_TRANSLATED +HP:0010049 Short metacarpal bones NOT_TRANSLATED +HP:0010049 Short metacarpals NOT_TRANSLATED +HP:0010049 Shortened long bone of hand NOT_TRANSLATED +HP:0010049 Shortened long bones of hand NOT_TRANSLATED +HP:0010049 Shortened metacarpals NOT_TRANSLATED +HP:0010049 Shortening of metacarpals NOT_TRANSLATED +HP:0010051 Displacement of big toe NOT_TRANSLATED +HP:0010051 Displacement of the hallux NOT_TRANSLATED +HP:0010052 Abnormal innermost big toe bone NOT_TRANSLATED +HP:0010052 Abnormality of the proximal phalanx of the hallux NOT_TRANSLATED +HP:0010053 Abnormality of the outermost bone of the big toe NOT_TRANSLATED +HP:0010054 Abnormality of the 1st long bone of foot NOT_TRANSLATED +HP:0010055 Abnormally broad great toes NOT_TRANSLATED +HP:0010055 Broad big toe NOT_TRANSLATED +HP:0010055 Broad great toe NOT_TRANSLATED +HP:0010055 Broad great toes NOT_TRANSLATED +HP:0010055 Broad halluces NOT_TRANSLATED +HP:0010055 Wide big toe NOT_TRANSLATED +HP:0010056 Abnormality of the end part of the big toe bone NOT_TRANSLATED +HP:0010057 Abnormal big toe bones NOT_TRANSLATED +HP:0010057 Abnormality of the phalanges of the hallux NOT_TRANSLATED +HP:0010058 Absent/small big toe bone NOT_TRANSLATED +HP:0010058 Absent/underdeveloped big toe bone NOT_TRANSLATED +HP:0010059 Broad bone of big toe NOT_TRANSLATED +HP:0010059 Broad phalanges of the hallux NOT_TRANSLATED +HP:0010059 Wide bone of big toe NOT_TRANSLATED +HP:0010060 Bullet-shaped bone of big toe NOT_TRANSLATED +HP:0010060 Bullet-shaped phalanges of the hallux NOT_TRANSLATED +HP:0010061 Curve bones of big toe NOT_TRANSLATED +HP:0010061 Curved phalanges of the hallux NOT_TRANSLATED +HP:0010063 Patchy sclerosis of the phalanges of the hallux NOT_TRANSLATED +HP:0010063 Uneven increase in bone density in big toe bone NOT_TRANSLATED +HP:0010064 Fused big toe bones NOT_TRANSLATED +HP:0010064 hallucal symphalangism NOT_TRANSLATED +HP:0010065 Triangular shaped bones of big toe NOT_TRANSLATED +HP:0010066 Duplicated hallux NOT_TRANSLATED +HP:0010066 Duplication of big toe bone NOT_TRANSLATED +HP:0010066 Duplication of great toes NOT_TRANSLATED +HP:0010066 Duplication of phalanx of big toe NOT_TRANSLATED +HP:0010066 Hallucal duplication NOT_TRANSLATED +HP:0010066 Partial/complete duplication of the phalanges of the hallux NOT_TRANSLATED +HP:0010067 Absent/small 1st long bone of foot NOT_TRANSLATED +HP:0010067 Absent/underdeveloped 1st long bone of foot NOT_TRANSLATED +HP:0010068 Broad 1st metatarsal NOT_TRANSLATED +HP:0010068 Enlarged first metatarsal NOT_TRANSLATED +HP:0010068 Wide 1st long bone of foot NOT_TRANSLATED +HP:0010069 Bullet-shaped 1st long bone of foot NOT_TRANSLATED +HP:0010070 Curved 1st long bone of foot NOT_TRANSLATED +HP:0010072 Uneven increase in bone density of the 1st long bone of foot NOT_TRANSLATED +HP:0010073 Fusion involving the 1st long bone of foot NOT_TRANSLATED +HP:0010074 Triangular shaped 1st long bone of foot NOT_TRANSLATED +HP:0010075 Duplicated 1st long bone of foot NOT_TRANSLATED +HP:0010075 Duplicated first metatarsals NOT_TRANSLATED +HP:0010076 Absent/small outermost big toe bone NOT_TRANSLATED +HP:0010076 Absent/underdeveloped outermost big toe bone NOT_TRANSLATED +HP:0010077 Broad outermost bone of big toe NOT_TRANSLATED +HP:0010077 Wide outermost bone of big toe NOT_TRANSLATED +HP:0010078 Bullet-shaped outermost bone of big toe NOT_TRANSLATED +HP:0010079 Curved outermost bone of big toe NOT_TRANSLATED +HP:0010081 Uneven increase in bone density in the outermost bone of big toe NOT_TRANSLATED +HP:0010082 Fused outermost bone of big toe NOT_TRANSLATED +HP:0010083 Triangular shaped outermost bone of the big toe NOT_TRANSLATED +HP:0010084 Duplication of the outermost bone of big toe NOT_TRANSLATED +HP:0010084 Partial/complete duplication of the distal phalanx of the hallux NOT_TRANSLATED +HP:0010085 Absent/small innermost big toe bone NOT_TRANSLATED +HP:0010085 Absent/underdeveloped innermost big toe bone NOT_TRANSLATED +HP:0010086 Broad innermost bone of the big toe NOT_TRANSLATED +HP:0010086 Broad proximal phalanx of the big toe NOT_TRANSLATED +HP:0010087 Bullet-shaped innermost bone of the big toe NOT_TRANSLATED +HP:0010088 Curved innermost bone of the big toe NOT_TRANSLATED +HP:0010090 Uneven increase in bone density in the innermost bone of the big toe NOT_TRANSLATED +HP:0010091 Fused innermost bone of big toe NOT_TRANSLATED +HP:0010092 Triangular shaped innermost bone of big toe NOT_TRANSLATED +HP:0010093 Duplication of the innermost bone of big toe NOT_TRANSLATED +HP:0010094 Complete duplication of the innermost bone of big toe NOT_TRANSLATED +HP:0010095 Partial duplication of the innermost bone of big toe NOT_TRANSLATED +HP:0010096 Complete duplication of the outermost bone of the big toe NOT_TRANSLATED +HP:0010097 Bifid distal phalanx of hallux NOT_TRANSLATED +HP:0010097 Notched outermost bone of big toe NOT_TRANSLATED +HP:0010097 Partial duplication of the outermost bone of big toe NOT_TRANSLATED +HP:0010098 Complete duplication of the 1st long bone of foot NOT_TRANSLATED +HP:0010099 Partial duplication of the 1st long bone of foot NOT_TRANSLATED +HP:0010100 Complete duplication of big toe bones NOT_TRANSLATED +HP:0010100 Complete duplication of the phalanges of the hallux NOT_TRANSLATED +HP:0010101 Partial duplication of big toe NOT_TRANSLATED +HP:0010101 partial duplication of hallux NOT_TRANSLATED +HP:0010102 Absent outermost bone of big toe NOT_TRANSLATED +HP:0010103 Hypoplastic/small distal phalanx of the hallux NOT_TRANSLATED +HP:0010103 Small distal phalanx of big toe NOT_TRANSLATED +HP:0010103 Small distal phalanx of hallux NOT_TRANSLATED +HP:0010103 Small outermost bone of big toe NOT_TRANSLATED +HP:0010104 Absent 1st long bone of foot NOT_TRANSLATED +HP:0010104 Absent 1st metatarsal NOT_TRANSLATED +HP:0010104 Aplasia of the 1st metatarsal NOT_TRANSLATED +HP:0010105 First metatarsal hypoplasia NOT_TRANSLATED +HP:0010105 First metatarsals hypoplastic NOT_TRANSLATED +HP:0010105 Short 1st long bone of foot NOT_TRANSLATED +HP:0010106 Absent innermost bone of big toe NOT_TRANSLATED +HP:0010107 Hypoplastic proximal phalanx of the hallux NOT_TRANSLATED +HP:0010107 Short innermost big toe bone NOT_TRANSLATED +HP:0010107 Short proximal phalanges of halluces NOT_TRANSLATED +HP:0010107 Short proximal phalanx of halluces NOT_TRANSLATED +HP:0010107 Small proximal phalanx of big toe NOT_TRANSLATED +HP:0010107 Small proximal phalanx of hallux NOT_TRANSLATED +HP:0010109 Hypoplastic big toes NOT_TRANSLATED +HP:0010109 Hypoplastic hallux NOT_TRANSLATED +HP:0010109 Short big toe NOT_TRANSLATED +HP:0010109 Short halluces NOT_TRANSLATED +HP:0010109 Small hallux NOT_TRANSLATED +HP:0010110 Absent bone of big toe NOT_TRANSLATED +HP:0010111 Hypoplastic phalanges of the hallux NOT_TRANSLATED +HP:0010111 Short bone of big toe NOT_TRANSLATED +HP:0010112 Central polydactyly of feet NOT_TRANSLATED +HP:0010113 Absent end part of big toe bone NOT_TRANSLATED +HP:0010113 Absent epiphyses of the hallux NOT_TRANSLATED +HP:0010114 Bracket shaped end part of big toe bone NOT_TRANSLATED +HP:0010115 Cone-shaped end part of the big toe bone NOT_TRANSLATED +HP:0010116 Enlarged end part of the big toe bone NOT_TRANSLATED +HP:0010117 Fragmentation of the end part of the big toe bone NOT_TRANSLATED +HP:0010118 Irregular end part of big toe bone NOT_TRANSLATED +HP:0010119 Increased bone density of end part of the big toe bone NOT_TRANSLATED +HP:0010121 Small end part of the big toe bone NOT_TRANSLATED +HP:0010122 Speckled calcifications in the end part of the big toe bone NOT_TRANSLATED +HP:0010123 Triangular end part of the big toe bone NOT_TRANSLATED +HP:0010124 Abnormality of the end part of the outermost bone of the big toe bone NOT_TRANSLATED +HP:0010125 Abnormality of the end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010126 Abnormality of the end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010127 Absent end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010128 Bracket shaped end part of the innermost bone of big toe NOT_TRANSLATED +HP:0010129 Cone-shaped end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010130 Enlarged end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010131 Fragmentation of the end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010132 Irregular end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010133 Increased bone density of end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010135 Small end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010136 Speckled calcifications in the end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010137 Triangular end part of the innermost bone of the big toe NOT_TRANSLATED +HP:0010138 Absent end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010139 Bracket shaped end part of the outermost bone of big toe NOT_TRANSLATED +HP:0010140 Cone-shaped end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010141 Enlarged end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010142 Fragmentation of the end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010143 Irregular end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010144 Increased bone density of end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010146 Small end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010147 Speckled calcifications in the end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010148 Triangular end part of the outermost bone of the big toe NOT_TRANSLATED +HP:0010149 Absent end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010150 Bracket shaped end part of 1st long bone of foot NOT_TRANSLATED +HP:0010151 Cone-shaped end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010152 Enlarged end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010153 Fragmentation of the end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010154 Irregular end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010155 Increased bone density of end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010157 Small end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010158 Speckled calcifications in the end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010159 Triangular end part of the 1st long bone of foot NOT_TRANSLATED +HP:0010160 Abnormality of the end part of the toe bones NOT_TRANSLATED +HP:0010161 Abnormality of the long bones of the toes NOT_TRANSLATED +HP:0010162 Absent end part of the toe bones NOT_TRANSLATED +HP:0010163 Bracket shaped end part of the toe bones NOT_TRANSLATED +HP:0010164 Cone-shaped end part of the toe bones NOT_TRANSLATED +HP:0010165 Enlarged end part of the toe bones NOT_TRANSLATED +HP:0010166 Fragmentation of the end part of the toe bones NOT_TRANSLATED +HP:0010167 Irregular end part of the toe bones NOT_TRANSLATED +HP:0010168 Increased bone density of end part of the toes NOT_TRANSLATED +HP:0010170 Small end part of the toe bones NOT_TRANSLATED +HP:0010171 Speckled calcifications in long toe bones NOT_TRANSLATED +HP:0010171 Stippling of the epiphyses of the toes NOT_TRANSLATED +HP:0010172 Triangular end part of the toe bones NOT_TRANSLATED +HP:0010173 Absent/small toe bones NOT_TRANSLATED +HP:0010173 Absent/underdeveloped toe bones NOT_TRANSLATED +HP:0010174 Wide toe bones NOT_TRANSLATED +HP:0010175 Bullet-shaped phalanges of the toes NOT_TRANSLATED +HP:0010175 Bullet-shaped toe bone NOT_TRANSLATED +HP:0010176 Curved phalanges of the toes NOT_TRANSLATED +HP:0010176 Curved toe bone NOT_TRANSLATED +HP:0010178 Patchy sclerosis of the phalanges of the toes NOT_TRANSLATED +HP:0010178 Uneven increase in bone density in toe bone NOT_TRANSLATED +HP:0010179 Fused toe bones NOT_TRANSLATED +HP:0010180 Triangular shaped toe bones NOT_TRANSLATED +HP:0010181 Duplicated toe bone NOT_TRANSLATED +HP:0010181 Partial/complete duplication of the phalanges of the toes NOT_TRANSLATED +HP:0010182 Abnormality of the outermost bone of the toes NOT_TRANSLATED +HP:0010183 Abnormal middle bones of toe NOT_TRANSLATED +HP:0010184 Abnormal innermost toe bone NOT_TRANSLATED +HP:0010184 Abnormality of the proximal phalanges of the toes NOT_TRANSLATED +HP:0010185 Absent/hypoplastic terminal phalanges of toes NOT_TRANSLATED +HP:0010185 Absent/small outermost bones of toe NOT_TRANSLATED +HP:0010185 Absent/underdeveloped outermost bones of toe NOT_TRANSLATED +HP:0010185 Hypoplasia/agenesis of distal phalanges of toes NOT_TRANSLATED +HP:0010186 Broad outermost bone of the toe NOT_TRANSLATED +HP:0010186 Wide outermost bone of the toe NOT_TRANSLATED +HP:0010187 Bullet-shaped distal phalanges of the toes NOT_TRANSLATED +HP:0010187 Bullet-shaped outermost bone of the toe NOT_TRANSLATED +HP:0010188 Curved distal phalanges of the toes NOT_TRANSLATED +HP:0010188 Curved outermost bone of the toe NOT_TRANSLATED +HP:0010190 Patchy sclerosis of the distal phalanges of the toes NOT_TRANSLATED +HP:0010190 Uneven increase in bone density in outermost toe bone NOT_TRANSLATED +HP:0010191 Fused outermost bones of toes NOT_TRANSLATED +HP:0010192 Triangular shaped outermost bone of the toes NOT_TRANSLATED +HP:0010193 Duplication of outermost bone of toe NOT_TRANSLATED +HP:0010193 Partial/complete duplication of the distal phalanges of the toes NOT_TRANSLATED +HP:0010194 Absent/small middle bones of toe NOT_TRANSLATED +HP:0010194 Absent/underdeveloped middle bones of toe NOT_TRANSLATED +HP:0010195 Broad middle bones of the toes NOT_TRANSLATED +HP:0010196 Bullet-shaped middle bones of the toes NOT_TRANSLATED +HP:0010196 Bullet-shaped middle phalanges of the toes NOT_TRANSLATED +HP:0010197 Curved middle bones of the toes NOT_TRANSLATED +HP:0010197 Curved middle phalanges of the toes NOT_TRANSLATED +HP:0010199 Patchy sclerosis of the middle phalanges of the toes NOT_TRANSLATED +HP:0010199 Uneven increase in bone density in middle toe bone NOT_TRANSLATED +HP:0010200 Fused middle bones of toes NOT_TRANSLATED +HP:0010201 Triangular shaped middle bones of toes NOT_TRANSLATED +HP:0010202 Partial/complete duplication of the middle bones of the toes NOT_TRANSLATED +HP:0010202 Partial/complete duplication of the middle phalanges of the toes NOT_TRANSLATED +HP:0010203 Absent/small innermost toe bones NOT_TRANSLATED +HP:0010203 Absent/underdeveloped innermost toe bones NOT_TRANSLATED +HP:0010203 Aplasia/Hypoplasia of the proximal phalanges of the toes NOT_TRANSLATED +HP:0010204 Broad innermost toe bone NOT_TRANSLATED +HP:0010205 Bullet-shaped innermost toe bone NOT_TRANSLATED +HP:0010205 Bullet-shaped proximal phalanges of the toes NOT_TRANSLATED +HP:0010205 Bullet-shaped proximal phalanges of toe NOT_TRANSLATED +HP:0010206 Curved innermost toe bones NOT_TRANSLATED +HP:0010206 Curved proximal phalanges of the toes NOT_TRANSLATED +HP:0010207 Osteolytic defects of the proximal phalanges of the toes NOT_TRANSLATED +HP:0010208 Patchy sclerosis of the proximal phalanges of the toes NOT_TRANSLATED +HP:0010208 Uneven increase in bone density in innermost toe bone NOT_TRANSLATED +HP:0010209 Fused innermost bones of toes NOT_TRANSLATED +HP:0010210 Triangular shaped innermost toe bones NOT_TRANSLATED +HP:0010211 Duplication of innermost toe bones NOT_TRANSLATED +HP:0010211 Partial/complete duplication of the proximal phalanges of the toes NOT_TRANSLATED +HP:0010212 Joint contracture of the big toe NOT_TRANSLATED +HP:0010212 Joint contracture of the hallux NOT_TRANSLATED +HP:0010220 Abnormality of the end part of the 2nd long bone of hand NOT_TRANSLATED +HP:0010222 Abnormality of the end part of the 3rd long bone of hand NOT_TRANSLATED +HP:0010224 Abnormality of the end part of the 4th long bone of hand NOT_TRANSLATED +HP:0010226 Abnormality of the end part of the long bone of little finger NOT_TRANSLATED +HP:0010226 Abnormality of the end part of the long bone of pinkie finger NOT_TRANSLATED +HP:0010226 Abnormality of the end part of the long bone of pinky finger NOT_TRANSLATED +HP:0010228 Absent end part of fingers NOT_TRANSLATED +HP:0010228 Absent epiphyses of the fingers NOT_TRANSLATED +HP:0010229 Bracket epiphyses of the fingers NOT_TRANSLATED +HP:0010229 Bracket shaped end part of finger bones NOT_TRANSLATED +HP:0010230 Cone-shaped end part of finger bones NOT_TRANSLATED +HP:0010230 Cone-shaped epiphyses of hand NOT_TRANSLATED +HP:0010230 Cone-shaped epiphyses of the fingers NOT_TRANSLATED +HP:0010230 Coned epiphyses of hands NOT_TRANSLATED +HP:0010230 Conical phalangeal epiphyses NOT_TRANSLATED +HP:0010231 Enlarged end part of finger bones NOT_TRANSLATED +HP:0010231 Enlarged epiphyses of the fingers NOT_TRANSLATED +HP:0010231 Enlarged phalangeal epiphyses NOT_TRANSLATED +HP:0010232 Fragmentation of end part of finger bones NOT_TRANSLATED +HP:0010232 Fragmentation of the epiphyses of the fingers NOT_TRANSLATED +HP:0010233 Irregular end part of finger bones NOT_TRANSLATED +HP:0010233 Irregular epiphyses of the fingers NOT_TRANSLATED +HP:0010234 Increased bone density of end part of the hand bones NOT_TRANSLATED +HP:0010234 Ivory epiphyses of the fingers NOT_TRANSLATED +HP:0010234 Sclerotic ivory phalangeal epiphyses NOT_TRANSLATED +HP:0010235 Pseudoepiphysis of the fingers NOT_TRANSLATED +HP:0010236 Small end part of finger bones NOT_TRANSLATED +HP:0010236 Small epiphyses of the fingers NOT_TRANSLATED +HP:0010237 Speckled calcifications in end part of finger bones NOT_TRANSLATED +HP:0010237 Stippling of the epiphyses of the fingers NOT_TRANSLATED +HP:0010237 Stippling of the epiphyses of the phalanges of the hand NOT_TRANSLATED +HP:0010238 Delta-shaped epiphyses of the fingers NOT_TRANSLATED +HP:0010238 Triangular end part of finger bones NOT_TRANSLATED +HP:0010238 Triangular epiphyses of the fingers NOT_TRANSLATED +HP:0010239 Absent middle bones of hand NOT_TRANSLATED +HP:0010239 Absent middle phalanges NOT_TRANSLATED +HP:0010239 Missing middle phalanges NOT_TRANSLATED +HP:0010241 Hypoplasia of the proximal phalanges of the hand NOT_TRANSLATED +HP:0010241 Short innermost finger bones NOT_TRANSLATED +HP:0010241 Short proximal phalanges NOT_TRANSLATED +HP:0010241 Shortening in proximal phalanges NOT_TRANSLATED +HP:0010242 Absent innermost bones NOT_TRANSLATED +HP:0010242 Absent proximal phalanges NOT_TRANSLATED +HP:0010243 Abnormality of the end part of the outermost bone of finger NOT_TRANSLATED +HP:0010244 Abnormality of the end part of the middle hand bones NOT_TRANSLATED +HP:0010245 Abnormality of the end part of the innermost hand bones NOT_TRANSLATED +HP:0010246 Absent end part of the outermost hand bones NOT_TRANSLATED +HP:0010247 Bracket shaped end part of the outermost hand bones NOT_TRANSLATED +HP:0010248 Cone-shaped end part of the outermost hand bones NOT_TRANSLATED +HP:0010249 Enlarged end part of the outermost hand bones NOT_TRANSLATED +HP:0010250 Fragmentation of the end part of the outermost hand bones NOT_TRANSLATED +HP:0010251 Irregular end part of the outermost hand bones NOT_TRANSLATED +HP:0010252 Eburnated epiphyses of distal phalanges NOT_TRANSLATED +HP:0010252 Increased bone density of end part of the outermost hand bones NOT_TRANSLATED +HP:0010254 Small end part of the outermost hand bones NOT_TRANSLATED +HP:0010255 Speckled calcifications in the end part of the outermost hand bones NOT_TRANSLATED +HP:0010256 Triangular end part of the outermost hand bones NOT_TRANSLATED +HP:0010257 Absent end part of the middle hand bones NOT_TRANSLATED +HP:0010258 Bracket shaped end part of the middle hand bones NOT_TRANSLATED +HP:0010259 Cone-shaped end part of the middle hand bones NOT_TRANSLATED +HP:0010259 Cone-shaped epiphyses of middle phalanges NOT_TRANSLATED +HP:0010260 Enlarged end part of the middle hand bones NOT_TRANSLATED +HP:0010261 Fragmentation of the end part of the middle hand bones NOT_TRANSLATED +HP:0010262 Irregular end part of middle hand bones NOT_TRANSLATED +HP:0010263 Increased bone density of end part of the middle hand bones NOT_TRANSLATED +HP:0010265 Small end part of the middle hand bones NOT_TRANSLATED +HP:0010266 Speckled calcifications in the end part of the middle hand bones NOT_TRANSLATED +HP:0010267 Triangular end part of the middle hand bones NOT_TRANSLATED +HP:0010268 Absent end part of the innermost hand bones NOT_TRANSLATED +HP:0010269 Bracket shaped end part of the innermost hand bones NOT_TRANSLATED +HP:0010270 Cone-shaped end part of the innermost hand bones NOT_TRANSLATED +HP:0010271 Enlarged end part of the innermost hand bones NOT_TRANSLATED +HP:0010272 Fragmentation of the end part of the innermost hand bones NOT_TRANSLATED +HP:0010273 Irregular end part of the innermost hand bones NOT_TRANSLATED +HP:0010274 Increased bone density of end part of the innermost hand bones NOT_TRANSLATED +HP:0010276 Small end part of the innermost hand bones NOT_TRANSLATED +HP:0010277 Speckled calcifications in the end part of the innermost hand bones NOT_TRANSLATED +HP:0010278 Triangular end part of the innermost hand bones NOT_TRANSLATED +HP:0010280 Gingivostomatitis NOT_TRANSLATED +HP:0010280 Inflammation of the mouth NOT_TRANSLATED +HP:0010281 Cleft of the lower lip NOT_TRANSLATED +HP:0010281 Lower labial cleft NOT_TRANSLATED +HP:0010282 Decreased height of lower lip vermilion NOT_TRANSLATED +HP:0010282 Decreased volume of lower lip NOT_TRANSLATED +HP:0010282 Decreased volume of lower lip vermilion NOT_TRANSLATED +HP:0010282 Thin lower lip NOT_TRANSLATED +HP:0010282 Thin red part of the lower lip NOT_TRANSLATED +HP:0010282 Thin vermilion border of lower lip NOT_TRANSLATED +HP:0010284 Dark color of gums NOT_TRANSLATED +HP:0010284 Dark colour of gums NOT_TRANSLATED +HP:0010284 Gingival hyperpigmentation NOT_TRANSLATED +HP:0010284 Gingival melanin pigmentation NOT_TRANSLATED +HP:0010284 Hyperpigmentation of oral mucosa NOT_TRANSLATED +HP:0010284 Oral mucosa melanin pigmentation NOT_TRANSLATED +HP:0010284 Oral racial pigmentation NOT_TRANSLATED +HP:0010284 Pigmented gums NOT_TRANSLATED +HP:0010285 Oral fibrous bands NOT_TRANSLATED +HP:0010285 Synechiae of the mouth NOT_TRANSLATED +HP:0010286 Abnormality of the salivary glands NOT_TRANSLATED +HP:0010286 Salivary gland disease NOT_TRANSLATED +HP:0010287 Abnormality of the submaxillary glands NOT_TRANSLATED +HP:0010289 Alveolar ridge cleft NOT_TRANSLATED +HP:0010289 Cleft of alveolar process NOT_TRANSLATED +HP:0010289 Cleft of gum ridge NOT_TRANSLATED +HP:0010289 Notch of alveolar process NOT_TRANSLATED +HP:0010289 Notch of alveolar ridge NOT_TRANSLATED +HP:0010289 Notch of gum ridge NOT_TRANSLATED +HP:0010290 Decreased length of hard palate NOT_TRANSLATED +HP:0010290 Hypoplastic palate NOT_TRANSLATED +HP:0010290 Short palate NOT_TRANSLATED +HP:0010291 Large lateral palatal folds NOT_TRANSLATED +HP:0010291 Large lateral palatal ridges NOT_TRANSLATED +HP:0010291 Prominent lateral palatal folds NOT_TRANSLATED +HP:0010291 Prominent lateral palatal ridges NOT_TRANSLATED +HP:0010291 Prominent palatine folds NOT_TRANSLATED +HP:0010292 Absent palatine uvula NOT_TRANSLATED +HP:0010292 Agenesis of uvula NOT_TRANSLATED +HP:0010292 Congenital absence of uvula NOT_TRANSLATED +HP:0010292 Missing uvula NOT_TRANSLATED +HP:0010292 Uvula aplasia NOT_TRANSLATED +HP:0010293 Aplasia/hypoplasia of palatine uvula NOT_TRANSLATED +HP:0010294 Hole in roof of mouth NOT_TRANSLATED +HP:0010294 Palatal hole NOT_TRANSLATED +HP:0010294 Palatal perforation NOT_TRANSLATED +HP:0010295 Lingual aplasia/hypoplasia NOT_TRANSLATED +HP:0010296 Tongue tie NOT_TRANSLATED +HP:0010296 Tongue tied NOT_TRANSLATED +HP:0010297 Bifurcated tongue NOT_TRANSLATED +HP:0010297 Bilobed tongue NOT_TRANSLATED +HP:0010297 Cleft tongue NOT_TRANSLATED +HP:0010297 Forked tongue NOT_TRANSLATED +HP:0010297 Snake tongue NOT_TRANSLATED +HP:0010297 Split tongue NOT_TRANSLATED +HP:0010298 Atrophy of dorsum of tongue NOT_TRANSLATED +HP:0010298 Atrophy of lingual surface NOT_TRANSLATED +HP:0010298 Atrophy of tongue surface NOT_TRANSLATED +HP:0010298 Smooth dorsum of tongue NOT_TRANSLATED +HP:0010298 Smooth lingual surface NOT_TRANSLATED +HP:0010298 Smooth surface of tongue NOT_TRANSLATED +HP:0010299 Abnormal dentin NOT_TRANSLATED +HP:0010299 Abnormality of dentin NOT_TRANSLATED +HP:0010299 Abnormality of dentine NOT_TRANSLATED +HP:0010299 Dentin anomaly NOT_TRANSLATED +HP:0010301 Incomplete closure of the vertebral arch NOT_TRANSLATED +HP:0010302 Spinal cord tumour NOT_TRANSLATED +HP:0010302 Spinal tumor NOT_TRANSLATED +HP:0010302 Spinal tumors NOT_TRANSLATED +HP:0010302 Spinal tumour NOT_TRANSLATED +HP:0010302 Spinal tumours NOT_TRANSLATED +HP:0010302 Tumor of the spinal cord NOT_TRANSLATED +HP:0010302 Tumour of the spinal cord NOT_TRANSLATED +HP:0010303 Abnormality of the spinal meninges NOT_TRANSLATED +HP:0010305 Absent sacrum NOT_TRANSLATED +HP:0010305 Sacral agenesis NOT_TRANSLATED +HP:0010305 Sacrococcygeal agenesis NOT_TRANSLATED +HP:0010306 Shorter than typical length between neck and abdomen NOT_TRANSLATED +HP:0010307 Noisy breathing NOT_TRANSLATED +HP:0010308 Aplasia of the sternum NOT_TRANSLATED +HP:0010308 Breast bone aplasia NOT_TRANSLATED +HP:0010309 Sternal cleft NOT_TRANSLATED +HP:0010311 Absent/small breasts NOT_TRANSLATED +HP:0010311 Absent/underdeveloped breasts NOT_TRANSLATED +HP:0010313 Breast enlargement NOT_TRANSLATED +HP:0010313 Breasts enlarged NOT_TRANSLATED +HP:0010313 Gigantomastia NOT_TRANSLATED +HP:0010313 Hypertrophy of the breasts NOT_TRANSLATED +HP:0010313 Large breast NOT_TRANSLATED +HP:0010313 Macromastia NOT_TRANSLATED +HP:0010314 Premature breast development NOT_TRANSLATED +HP:0010315 Absent/small diaprhagm NOT_TRANSLATED +HP:0010315 Absent/underdeveloped diaprhagm NOT_TRANSLATED +HP:0010316 Ebstein's anomaly NOT_TRANSLATED +HP:0010316 Ebstein's anomaly of the tricuspid valve NOT_TRANSLATED +HP:0010316 Ebstein's malformation NOT_TRANSLATED +HP:0010317 Absent scapula NOT_TRANSLATED +HP:0010317 Absent shoulder blade NOT_TRANSLATED +HP:0010318 Absent/small abdominal wall muscles NOT_TRANSLATED +HP:0010318 Absent/underdeveloped abdominal wall muscles NOT_TRANSLATED +HP:0010322 Abnormality of the little toe NOT_TRANSLATED +HP:0010322 Abnormality of the pinkie toe NOT_TRANSLATED +HP:0010322 Abnormality of the pinky toe NOT_TRANSLATED +HP:0010323 Abnormality of the end part of the 2nd toe bone NOT_TRANSLATED +HP:0010324 Abnormality of the 2nd toe bone NOT_TRANSLATED +HP:0010325 Absent/small 2nd toe NOT_TRANSLATED +HP:0010325 Absent/underdeveloped 2nd toe NOT_TRANSLATED +HP:0010326 Displacement of the 2nd toe NOT_TRANSLATED +HP:0010327 Joint contractures of the 2nd toe NOT_TRANSLATED +HP:0010329 Abnormality of the end part of the 3rd toe bone NOT_TRANSLATED +HP:0010330 Abnormality of the bones of the 3rd toe NOT_TRANSLATED +HP:0010331 Absent/hypoplastic third toe NOT_TRANSLATED +HP:0010331 Absent/small 3rd toe NOT_TRANSLATED +HP:0010331 Absent/underdeveloped 3rd toe NOT_TRANSLATED +HP:0010332 Displacement of the 3rd toe NOT_TRANSLATED +HP:0010333 Joint contractures of the 3rd toe NOT_TRANSLATED +HP:0010335 Abnormality of the end part of the 4th toe bone NOT_TRANSLATED +HP:0010337 Absent/small 4th toe NOT_TRANSLATED +HP:0010337 Absent/underdeveloped 4th toe NOT_TRANSLATED +HP:0010338 Displacement of the 4th toe NOT_TRANSLATED +HP:0010339 Joint contractures of the 4th toe NOT_TRANSLATED +HP:0010341 Abnormality of the end part of the little toe bone NOT_TRANSLATED +HP:0010341 Abnormality of the end part of the pinkie toe bone NOT_TRANSLATED +HP:0010341 Abnormality of the end part of the pinky toe bone NOT_TRANSLATED +HP:0010342 Abnormality of the little toe bones NOT_TRANSLATED +HP:0010342 Abnormality of the pinkie toe bones NOT_TRANSLATED +HP:0010342 Abnormality of the pinky toe bones NOT_TRANSLATED +HP:0010343 Absent/small little toe NOT_TRANSLATED +HP:0010343 Absent/small pinkie toe NOT_TRANSLATED +HP:0010343 Absent/small pinky toe NOT_TRANSLATED +HP:0010343 Absent/underdeveloped pinky toe NOT_TRANSLATED +HP:0010344 Displacement of the 5th toe NOT_TRANSLATED +HP:0010344 Displacement of the little toe NOT_TRANSLATED +HP:0010344 Displacement of the pinkie toe NOT_TRANSLATED +HP:0010344 Displacement of the pinky toe NOT_TRANSLATED +HP:0010345 Joint contractures of the 5th toe NOT_TRANSLATED +HP:0010347 Absent/small bones of 2nd toe NOT_TRANSLATED +HP:0010347 Absent/underdeveloped bones of 2nd toe NOT_TRANSLATED +HP:0010348 Broad bones of the 2nd toe NOT_TRANSLATED +HP:0010349 Bullet-shaped bones of the 2nd toe NOT_TRANSLATED +HP:0010349 Bullet-shaped phalanges of the 2nd toe NOT_TRANSLATED +HP:0010350 Curved bones of the 2nd toe NOT_TRANSLATED +HP:0010350 Curved phalanges of the 2nd toe NOT_TRANSLATED +HP:0010352 Patchy sclerosis of the phalanges of the 2nd toe NOT_TRANSLATED +HP:0010352 Uneven increase in bone density in 2nd toe bone NOT_TRANSLATED +HP:0010353 2nd toe symphalangism NOT_TRANSLATED +HP:0010353 Fused bones of 2nd toe NOT_TRANSLATED +HP:0010353 Symphalangism affecting the phalanges of the 2nd toe NOT_TRANSLATED +HP:0010354 Triangular shaped bone of 2nd toe NOT_TRANSLATED +HP:0010354 Triangular shaped bone of second toe NOT_TRANSLATED +HP:0010355 Duplication of the bones of the 2nd toe NOT_TRANSLATED +HP:0010355 Partial/complete duplication of the phalanges of the 2nd toe NOT_TRANSLATED +HP:0010356 Abnormality of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010357 Abnormality of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0010358 Abnormality of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0010359 Absent/small bones of 3rd toe NOT_TRANSLATED +HP:0010359 Absent/underdeveloped bones of 3rd toe NOT_TRANSLATED +HP:0010360 Wide bones of 3rd toe NOT_TRANSLATED +HP:0010361 Bullet-shaped bones of 3rd toe NOT_TRANSLATED +HP:0010361 Bullet-shaped phalanges of the 3rd toe NOT_TRANSLATED +HP:0010362 Curved bones of 3rd toe NOT_TRANSLATED +HP:0010362 Curved phalanges of the 3rd toe NOT_TRANSLATED +HP:0010364 Patchy sclerosis of the phalanges of the 3rd toe NOT_TRANSLATED +HP:0010364 Uneven increase in bone density in 3rd toe bone NOT_TRANSLATED +HP:0010365 Fused bones of 3rd toe NOT_TRANSLATED +HP:0010366 Triangular shaped 3rd toe bones NOT_TRANSLATED +HP:0010367 Duplication of 3rd toe bone NOT_TRANSLATED +HP:0010367 Duplication of phalanx of the third toe NOT_TRANSLATED +HP:0010367 Partial/complete duplication of the phalanges of the 3rd toe NOT_TRANSLATED +HP:0010368 Abnormality of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0010369 Abnormality of the middle bone of 3rd toe NOT_TRANSLATED +HP:0010370 Abnormality of the innermost bone of 3rd toe NOT_TRANSLATED +HP:0010371 Absent/small bones of 4th toe NOT_TRANSLATED +HP:0010371 Absent/underdeveloped bones of 4th toe NOT_TRANSLATED +HP:0010372 Broad bones of the 4th toe NOT_TRANSLATED +HP:0010373 Bullet-shaped bones of the 4th toe NOT_TRANSLATED +HP:0010373 Bullet-shaped phalanges of the 4th toe NOT_TRANSLATED +HP:0010374 Curved bones of 4th toe NOT_TRANSLATED +HP:0010374 Curved phalanges of the 4th toe NOT_TRANSLATED +HP:0010376 Patchy sclerosis of the phalanges of the 4th toe NOT_TRANSLATED +HP:0010376 Uneven increase in bone density in 4th toe bone NOT_TRANSLATED +HP:0010377 Fused bones of 4th toe NOT_TRANSLATED +HP:0010378 Triangular shaped bones of 4th toe NOT_TRANSLATED +HP:0010379 Duplication of 4th toe bone NOT_TRANSLATED +HP:0010379 Duplication of phalanx of the fourth toe NOT_TRANSLATED +HP:0010379 Partial/complete duplication of the phalanges of the 4th toe NOT_TRANSLATED +HP:0010380 Abnormality of the outermost 4th toe bone NOT_TRANSLATED +HP:0010381 Abnormality of middle 4th toe bone NOT_TRANSLATED +HP:0010382 Abnormal innermost 4th toe bone NOT_TRANSLATED +HP:0010383 Absent/small little toe bones NOT_TRANSLATED +HP:0010383 Absent/small pinkie toe bones NOT_TRANSLATED +HP:0010383 Absent/small pinky toe bones NOT_TRANSLATED +HP:0010383 Absent/underdeveloped pinky toe bones NOT_TRANSLATED +HP:0010384 Broad bones of the little toe NOT_TRANSLATED +HP:0010384 Broad bones of the pinkie toe NOT_TRANSLATED +HP:0010384 Broad bones of the pinky toe NOT_TRANSLATED +HP:0010385 Bullet-shaped bones of the little toe NOT_TRANSLATED +HP:0010385 Bullet-shaped bones of the pinkie toe NOT_TRANSLATED +HP:0010385 Bullet-shaped bones of the pinky toe NOT_TRANSLATED +HP:0010385 Bullet-shaped phalanges of the 5th toe NOT_TRANSLATED +HP:0010386 Curved little toe bones NOT_TRANSLATED +HP:0010386 Curved phalanges of the 5th toe NOT_TRANSLATED +HP:0010386 Curved pinkie toe bones NOT_TRANSLATED +HP:0010386 Curved pinky toe bones NOT_TRANSLATED +HP:0010388 Patchy sclerosis of the phalanges of the 5th toe NOT_TRANSLATED +HP:0010388 Uneven increase in bone density in little toe bone NOT_TRANSLATED +HP:0010388 Uneven increase in bone density in pinkie toe bone NOT_TRANSLATED +HP:0010388 Uneven increase in bone density in pinky toe bone NOT_TRANSLATED +HP:0010389 Fused bones in the little toe NOT_TRANSLATED +HP:0010389 Fused bones in the pinkie toe NOT_TRANSLATED +HP:0010389 Fused bones in the pinky toe NOT_TRANSLATED +HP:0010390 Triangular shaped little toe bone NOT_TRANSLATED +HP:0010390 Triangular shaped pinkie toe bone NOT_TRANSLATED +HP:0010390 Triangular shaped pinky toe bone NOT_TRANSLATED +HP:0010391 Duplication of the bones of the little toe NOT_TRANSLATED +HP:0010391 Duplication of the bones of the pinkie toe NOT_TRANSLATED +HP:0010391 Duplication of the bones of the pinky toe NOT_TRANSLATED +HP:0010391 Duplication of the phalanges of the fifth toe NOT_TRANSLATED +HP:0010391 Partial/complete duplication of the phalanges of the 5th toe NOT_TRANSLATED +HP:0010392 Abnormality of the outermost bone of the little toe NOT_TRANSLATED +HP:0010392 Abnormality of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0010392 Abnormality of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0010393 Abnormality of the middle bone of the little toe NOT_TRANSLATED +HP:0010393 Abnormality of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0010393 Abnormality of the middle bone of the pinky toe NOT_TRANSLATED +HP:0010394 Abnormality of the innermost bone of the little toe NOT_TRANSLATED +HP:0010394 Abnormality of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0010394 Abnormality of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0010395 Absent/small innermost 2nd toe bone NOT_TRANSLATED +HP:0010395 Absent/underdeveloped innermost 2nd toe bone NOT_TRANSLATED +HP:0010396 Broad innermost bone of 2nd toe NOT_TRANSLATED +HP:0010397 Bullet-shaped innermost bone of 2nd toe NOT_TRANSLATED +HP:0010398 Curved innermost bone of 2nd toe NOT_TRANSLATED +HP:0010400 Uneven increase in bone density in the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0010401 Fused innermost bone of the 2nd toe NOT_TRANSLATED +HP:0010402 Triangular shaped innermost 2nd toe bone NOT_TRANSLATED +HP:0010403 Duplication of innermost 2nd toe bone NOT_TRANSLATED +HP:0010403 Duplication of the proximal phalanx of the second toe NOT_TRANSLATED +HP:0010403 Partial/complete duplication of the proximal phalanx of the 2nd toe NOT_TRANSLATED +HP:0010404 Absent/small middle bone of 2nd toe NOT_TRANSLATED +HP:0010404 Absent/underdeveloped middle bone of 2nd toe NOT_TRANSLATED +HP:0010405 Broad middle bone of 2nd toe NOT_TRANSLATED +HP:0010406 Bullet-shaped middle bone of 2nd toe NOT_TRANSLATED +HP:0010407 Curved middle bone of 2nd toe NOT_TRANSLATED +HP:0010409 Uneven increase in bone density in the middle bone of the 2nd toe NOT_TRANSLATED +HP:0010410 Fused middle bone of 2nd toe NOT_TRANSLATED +HP:0010411 Triangular shaped middle bone of 2nd toe NOT_TRANSLATED +HP:0010412 Duplication of middle bone of 2nd toe NOT_TRANSLATED +HP:0010412 Partial/complete duplication of the middle phalanx of the 2nd toe NOT_TRANSLATED +HP:0010413 Absent/small outermost 2nd toe bone NOT_TRANSLATED +HP:0010413 Absent/underdeveloped outermost 2nd toe bone NOT_TRANSLATED +HP:0010414 Broad outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010414 Wide outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010415 Bullet-shaped outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010416 Curved outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010418 Uneven increase in bone density in the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010419 Fused outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010420 Triangular shaped outermost 2nd toe bone NOT_TRANSLATED +HP:0010421 Duplication of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010421 Partial/complete duplication of the distal phalanx of the 2nd toe NOT_TRANSLATED +HP:0010422 Complete duplication of the innermost 2nd toe bone NOT_TRANSLATED +HP:0010422 Complete duplication of the proximal phalanx of the second toe NOT_TRANSLATED +HP:0010423 Partial duplication of the innermost 2nd toe bone NOT_TRANSLATED +HP:0010423 Partial duplication of the proximal phalanx of the second toe NOT_TRANSLATED +HP:0010424 Complete duplication of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010425 Partial duplication of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010426 Complete duplication of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0010427 Partial duplication of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0010428 Partial duplication of 2nd toe bone NOT_TRANSLATED +HP:0010429 Complete duplication of the 2nd toe bones NOT_TRANSLATED +HP:0010430 Absent 2nd toe bones NOT_TRANSLATED +HP:0010431 Hypoplastic/small phalanges of the 2nd toe NOT_TRANSLATED +HP:0010431 Short 2nd toe bone NOT_TRANSLATED +HP:0010431 Short phalanx of the second toe NOT_TRANSLATED +HP:0010432 Absent distal phalanx of the second toe NOT_TRANSLATED +HP:0010432 Absent outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010432 Aplasia of the distal phalanx of the 2nd toe NOT_TRANSLATED +HP:0010433 Hypoplastic/small distal phalanx of the 2nd toe NOT_TRANSLATED +HP:0010433 Short distal phalanx of the second toe NOT_TRANSLATED +HP:0010433 Short outermost bone of the 2nd toe NOT_TRANSLATED +HP:0010434 Absent middle bone of 2nd toe NOT_TRANSLATED +HP:0010435 Hypoplastic/small middle phalanx of the 2nd toe NOT_TRANSLATED +HP:0010435 Short middle 2nd toe bone NOT_TRANSLATED +HP:0010435 Short middle phalanx of the second toe NOT_TRANSLATED +HP:0010436 Absent innermost 2nd toe bone NOT_TRANSLATED +HP:0010437 Hypoplastic/small proximal phalanx of the 2nd toe NOT_TRANSLATED +HP:0010437 Short innermost 2nd toe bone NOT_TRANSLATED +HP:0010437 Short proximal phalanx of the second toe NOT_TRANSLATED +HP:0010438 Abnormal interventricular septum morphology NOT_TRANSLATED +HP:0010438 Abnormality of the ventricular septum NOT_TRANSLATED +HP:0010438 Ventricular septum abnormality NOT_TRANSLATED +HP:0010442 More than five fingers or toes on hands or feet NOT_TRANSLATED +HP:0010443 Notched thighbone NOT_TRANSLATED +HP:0010443 Split thighbone NOT_TRANSLATED +HP:0010444 Pulmonary incompetence NOT_TRANSLATED +HP:0010444 Pulmonary valve regurgitation NOT_TRANSLATED +HP:0010444 Pulmonic regurgitation NOT_TRANSLATED +HP:0010444 Puolmonary valve insufficiency NOT_TRANSLATED +HP:0010445 Atrial septal defect, primum type NOT_TRANSLATED +HP:0010445 Ostium primum atrial septal defect NOT_TRANSLATED +HP:0010445 Primum atrioventricular canal defect NOT_TRANSLATED +HP:0010445 Septum primum defect NOT_TRANSLATED +HP:0010447 Fistula in ano NOT_TRANSLATED +HP:0010448 Atresia of the large intestine NOT_TRANSLATED +HP:0010448 Large intestinal atresia NOT_TRANSLATED +HP:0010450 Narrowing of the esophagus NOT_TRANSLATED +HP:0010450 Narrowing of the oesophagus NOT_TRANSLATED +HP:0010451 Absent/small spleen NOT_TRANSLATED +HP:0010451 Absent/underdeveloped spleen NOT_TRANSLATED +HP:0010452 Abnormal spleen location NOT_TRANSLATED +HP:0010452 Ectopic spleen NOT_TRANSLATED +HP:0010453 Asymmetric pelvis NOT_TRANSLATED +HP:0010453 Pelvic asymmetry NOT_TRANSLATED +HP:0010456 Abnormality of greater sciatic notch NOT_TRANSLATED +HP:0010456 Abnormality of the greater sacrosciatic notch NOT_TRANSLATED +HP:0010456 Abnormality of the sacroiliac notch NOT_TRANSLATED +HP:0010459 Testicular and ovarian tissue present NOT_TRANSLATED +HP:0010461 Abnormal male genitals NOT_TRANSLATED +HP:0010462 Absent/small ovary NOT_TRANSLATED +HP:0010462 Absent/underdeveloped ovary NOT_TRANSLATED +HP:0010463 Absent ovary NOT_TRANSLATED +HP:0010463 Aplasia of the ovaries NOT_TRANSLATED +HP:0010463 Bilateral absent ovaries NOT_TRANSLATED +HP:0010468 Absent/small testes NOT_TRANSLATED +HP:0010468 Absent/underdeveloped testes NOT_TRANSLATED +HP:0010469 Absence of palpable testicules NOT_TRANSLATED +HP:0010469 Absent testes NOT_TRANSLATED +HP:0010469 Aplasia of the testes NOT_TRANSLATED +HP:0010470 Extra testes NOT_TRANSLATED +HP:0010470 Polyorchidism NOT_TRANSLATED +HP:0010476 Absent/small bladder NOT_TRANSLATED +HP:0010476 Absent/underdeveloped bladder NOT_TRANSLATED +HP:0010477 Absent bladder NOT_TRANSLATED +HP:0010479 Persistent urachus NOT_TRANSLATED +HP:0010484 Increased size of upper limb NOT_TRANSLATED +HP:0010487 Hypoplasia of the hypothenar eminence NOT_TRANSLATED +HP:0010487 Hypothenar hypoplasia NOT_TRANSLATED +HP:0010488 Absent/small palm crease NOT_TRANSLATED +HP:0010488 Absent/underdeveloped palm crease NOT_TRANSLATED +HP:0010489 Absence of the palmar creases NOT_TRANSLATED +HP:0010489 Absent palm lines NOT_TRANSLATED +HP:0010489 Aplasia of the palmar creases NOT_TRANSLATED +HP:0010490 Abnormality of the palm lines NOT_TRANSLATED +HP:0010491 Amniotic constriction rings of digits NOT_TRANSLATED +HP:0010492 Osseous syndactyly of the fingers NOT_TRANSLATED +HP:0010493 Elongated long bone of hand NOT_TRANSLATED +HP:0010493 Increased length of metacarpals NOT_TRANSLATED +HP:0010497 Sympodia NOT_TRANSLATED +HP:0010499 Partial knee cap dislocation NOT_TRANSLATED +HP:0010499 Subluxation of patella NOT_TRANSLATED +HP:0010501 Limited knee movement NOT_TRANSLATED +HP:0010502 Bowed calf bone NOT_TRANSLATED +HP:0010503 Duplicated calf bone NOT_TRANSLATED +HP:0010504 Increased length of shankbone NOT_TRANSLATED +HP:0010504 Increased length of shinbone NOT_TRANSLATED +HP:0010506 Abnormal dermatoglyphics on feet NOT_TRANSLATED +HP:0010506 Abnormal prints on feet NOT_TRANSLATED +HP:0010509 Absent ankle bone NOT_TRANSLATED +HP:0010509 Absent tarsals NOT_TRANSLATED +HP:0010511 Increased length of toes NOT_TRANSLATED +HP:0010511 Long toes NOT_TRANSLATED +HP:0010515 Absent/small thymus NOT_TRANSLATED +HP:0010515 Absent/underdeveloped thymus NOT_TRANSLATED +HP:0010515 Thymic hypoplasia or aplasia NOT_TRANSLATED +HP:0010516 Enlarged thymus NOT_TRANSLATED +HP:0010516 Thymic hyperplasia NOT_TRANSLATED +HP:0010517 Abnormal thymus position NOT_TRANSLATED +HP:0010518 Thyroglossal duct cyst NOT_TRANSLATED +HP:0010519 Fetal hyperkinesia NOT_TRANSLATED +HP:0010519 Foetal hyperkinesia NOT_TRANSLATED +HP:0010519 Increased foetal movement NOT_TRANSLATED +HP:0010522 Reading disability NOT_TRANSLATED +HP:0010523 Text blindness NOT_TRANSLATED +HP:0010523 Word blindness NOT_TRANSLATED +HP:0010527 Astereognosis NOT_TRANSLATED +HP:0010527 Somatosensory agnosia NOT_TRANSLATED +HP:0010528 Face blindness NOT_TRANSLATED +HP:0010528 Facial agnosia NOT_TRANSLATED +HP:0010529 Echoing another person's speech NOT_TRANSLATED +HP:0010529 Echologia NOT_TRANSLATED +HP:0010529 Echophrasia NOT_TRANSLATED +HP:0010529 Repeated speech NOT_TRANSLATED +HP:0010530 Palatal myoclonus NOT_TRANSLATED +HP:0010535 Pauses in breathing while sleeping NOT_TRANSLATED +HP:0010535 Sleep apnoea NOT_TRANSLATED +HP:0010536 Central sleep apnoea NOT_TRANSLATED +HP:0010537 Broad cranial sutures NOT_TRANSLATED +HP:0010537 Large cranial suture NOT_TRANSLATED +HP:0010537 Persistent open cranial sutures NOT_TRANSLATED +HP:0010537 Widened cranial sutures NOT_TRANSLATED +HP:0010537 open cranial sutures NOT_TRANSLATED +HP:0010538 Hypoplasia of hypophseal fossa NOT_TRANSLATED +HP:0010538 Hypoplasia of pituitary fossa NOT_TRANSLATED +HP:0010538 Hypoplasia of sella turcica NOT_TRANSLATED +HP:0010538 Small hypophyseal fossa NOT_TRANSLATED +HP:0010538 Small pituitary fossa NOT_TRANSLATED +HP:0010539 Thin cranial bone NOT_TRANSLATED +HP:0010539 Thin skull bone NOT_TRANSLATED +HP:0010541 Cutis verticis gyrata NOT_TRANSLATED +HP:0010541 Furrows in thickened skin on top of scalp NOT_TRANSLATED +HP:0010541 Scalp folds NOT_TRANSLATED +HP:0010541 Scalp furrows NOT_TRANSLATED +HP:0010541 Scalp rugae NOT_TRANSLATED +HP:0010541 Thickened folds on top of scalp NOT_TRANSLATED +HP:0010541 Thickening of the scalp NOT_TRANSLATED +HP:0010546 EMG: fibrillations on electromyogram NOT_TRANSLATED +HP:0010546 Twitching NOT_TRANSLATED +HP:0010548 Transient swelling of muscle induced by percussion NOT_TRANSLATED +HP:0010549 Paralysis due to lesions of the principle motor tracts NOT_TRANSLATED +HP:0010550 Leg paralysis NOT_TRANSLATED +HP:0010554 Cutaneous syndactyly of fingers NOT_TRANSLATED +HP:0010554 Cutaneous syndactyly of hands NOT_TRANSLATED +HP:0010554 Webbed fingers NOT_TRANSLATED +HP:0010554 Webbed skin of fingers NOT_TRANSLATED +HP:0010560 Wavy clavicles NOT_TRANSLATED +HP:0010560 Wavy collarbone NOT_TRANSLATED +HP:0010561 Wavy ribs NOT_TRANSLATED +HP:0010567 Y-shaped long bone of foot NOT_TRANSLATED +HP:0010569 Elevated levels of cholesta-5,7-dien-3beta-ol NOT_TRANSLATED +HP:0010570 Low maternal serum alpha-fetoprotein NOT_TRANSLATED +HP:0010571 Elevated level of phytanic acid NOT_TRANSLATED +HP:0010571 Elevated levels of phytanic acid NOT_TRANSLATED +HP:0010574 Abnormality of the end part of the innermost thighbone NOT_TRANSLATED +HP:0010574 Abnormality of the proximal femoral epiphysis NOT_TRANSLATED +HP:0010575 Abnormality of femoral head development NOT_TRANSLATED +HP:0010575 Dysplastic femoral head NOT_TRANSLATED +HP:0010576 Cerebral cystic malformation NOT_TRANSLATED +HP:0010577 Absent end part of bone NOT_TRANSLATED +HP:0010578 Bracket shaped end part of long bone NOT_TRANSLATED +HP:0010579 Cone-shaped end part of bone NOT_TRANSLATED +HP:0010579 Cone-shaped epiphyses NOT_TRANSLATED +HP:0010579 Coned epiphyses NOT_TRANSLATED +HP:0010580 Large end part of bone NOT_TRANSLATED +HP:0010580 Large epiphyses NOT_TRANSLATED +HP:0010580 Widened, distorted epiphyses NOT_TRANSLATED +HP:0010582 Irregular end part of long bone NOT_TRANSLATED +HP:0010583 Epiphyseal sclerosis NOT_TRANSLATED +HP:0010583 Increased bone density in end part of bone NOT_TRANSLATED +HP:0010585 Small end part of bone NOT_TRANSLATED +HP:0010587 Triangular end part of bone NOT_TRANSLATED +HP:0010588 Premature closure of epiphyses NOT_TRANSLATED +HP:0010590 Abnormality of the end part of the outermost thighbone NOT_TRANSLATED +HP:0010591 Abnormality of the end part of innermost shankbone NOT_TRANSLATED +HP:0010591 Abnormality of the end part of innermost shinbone NOT_TRANSLATED +HP:0010592 Abnormality of the end part of outermost shankbone NOT_TRANSLATED +HP:0010592 Abnormality of the end part of outermost shinbone NOT_TRANSLATED +HP:0010593 Abnormality of the end part of the calf bone NOT_TRANSLATED +HP:0010594 Abnormality of the innermost end part of calf bone NOT_TRANSLATED +HP:0010595 Abnormality of the outermost end part of calf bone NOT_TRANSLATED +HP:0010598 Abnormality of the end part of the innermost long bone in upper arm NOT_TRANSLATED +HP:0010599 Abnormality of the end part of the outermost long bone in upper arm NOT_TRANSLATED +HP:0010600 Abnormality of the distal ulnar epiphysis NOT_TRANSLATED +HP:0010601 Abnormality of the proximal ulnar epiphysis NOT_TRANSLATED +HP:0010602 Type 2 muscle fibre predominance NOT_TRANSLATED +HP:0010602 Type II muscle fiber predominance NOT_TRANSLATED +HP:0010602 Type II muscle fibre predominance NOT_TRANSLATED +HP:0010603 Keratocystic odontogenic tumor NOT_TRANSLATED +HP:0010603 Keratocystic odontogenic tumour NOT_TRANSLATED +HP:0010603 Keratocysts of the jaw NOT_TRANSLATED +HP:0010604 Eyelid bump NOT_TRANSLATED +HP:0010604 Eyelid mass NOT_TRANSLATED +HP:0010604 Lesion of the eyelid NOT_TRANSLATED +HP:0010605 Meibomian gland lipogranuloma NOT_TRANSLATED +HP:0010606 Red bump on eyelid NOT_TRANSLATED +HP:0010606 Stye of eyelid NOT_TRANSLATED +HP:0010608 Red bump on inner eyelid NOT_TRANSLATED +HP:0010608 Stye of inner eyelid NOT_TRANSLATED +HP:0010609 Acrochorda NOT_TRANSLATED +HP:0010619 Breast fibroadenoma NOT_TRANSLATED +HP:0010619 Breast fibroadenomas NOT_TRANSLATED +HP:0010619 Breast fibroadenosis NOT_TRANSLATED +HP:0010619 Fibroadenosis - breast NOT_TRANSLATED +HP:0010619 Fibroadenosis of breast NOT_TRANSLATED +HP:0010620 Hyperplasia of malar bones NOT_TRANSLATED +HP:0010620 Malar excess NOT_TRANSLATED +HP:0010620 Malar hyperplasia NOT_TRANSLATED +HP:0010620 Prominent malar region NOT_TRANSLATED +HP:0010621 Cutaneous syndactyly of feet NOT_TRANSLATED +HP:0010621 Webbed skin of toes NOT_TRANSLATED +HP:0010621 soft tissue syndactyly of toes NOT_TRANSLATED +HP:0010622 Bone neoplasm NOT_TRANSLATED +HP:0010622 Neoplasia of the skeletal system NOT_TRANSLATED +HP:0010622 Skeletal tumor NOT_TRANSLATED +HP:0010622 Skeletal tumour NOT_TRANSLATED +HP:0010624 Absent/small toenails NOT_TRANSLATED +HP:0010624 Absent/underdeveloped toenails NOT_TRANSLATED +HP:0010624 Aplastic/hypoplastic toenails NOT_TRANSLATED +HP:0010624 Hypoplastic-absent toenails NOT_TRANSLATED +HP:0010625 Adenohypophysis NOT_TRANSLATED +HP:0010626 Absent pituitary gland NOT_TRANSLATED +HP:0010626 Aplasia of the pituitary gland NOT_TRANSLATED +HP:0010627 Hypoplasia of the pituitary gland NOT_TRANSLATED +HP:0010627 Underdeveloped pituitary gland NOT_TRANSLATED +HP:0010628 Bell's palsy NOT_TRANSLATED +HP:0010628 Cranial nerve VII palsy NOT_TRANSLATED +HP:0010628 Facial muscle weakness of muscles innervated by CN VII NOT_TRANSLATED +HP:0010628 Facial nerve palsy NOT_TRANSLATED +HP:0010628 Facial nerve paralysis NOT_TRANSLATED +HP:0010628 Facial palsy, unilateral or bilateral NOT_TRANSLATED +HP:0010628 Seventh cranial nerve palsy NOT_TRANSLATED +HP:0010628 VII th cranial nerve palsy NOT_TRANSLATED +HP:0010630 Abnormality of end part of long bone of foot NOT_TRANSLATED +HP:0010630 Abnormality of the epiphyses of the metatarsals NOT_TRANSLATED +HP:0010631 Abnormality of the end part of the foot bone NOT_TRANSLATED +HP:0010638 Elevated ALP of hepatic origin NOT_TRANSLATED +HP:0010639 Elevated ALP of bone origin NOT_TRANSLATED +HP:0010639 Increased serum bone-specific alkaline phosphatase NOT_TRANSLATED +HP:0010644 Midnasal atresia or stenosis NOT_TRANSLATED +HP:0010645 Absent outermost bone of the toes NOT_TRANSLATED +HP:0010648 Translucent skin NOT_TRANSLATED +HP:0010649 Depressed nasal alae NOT_TRANSLATED +HP:0010649 Flat nasal alar cartilage NOT_TRANSLATED +HP:0010650 Decreased size of premaxilla NOT_TRANSLATED +HP:0010650 Decreased size of the primary palate bone NOT_TRANSLATED +HP:0010650 Hypoplasia of the intermaxillary bone NOT_TRANSLATED +HP:0010650 Hypoplasia of the primary palate bone NOT_TRANSLATED +HP:0010650 Premaxillary bone deficiency NOT_TRANSLATED +HP:0010650 Premaxillary bone retrusion NOT_TRANSLATED +HP:0010650 Premaxillary retrusion NOT_TRANSLATED +HP:0010650 Premaxillary underdevelopment NOT_TRANSLATED +HP:0010650 Primary palate bone deficiency NOT_TRANSLATED +HP:0010650 Primary palate bone retrusion NOT_TRANSLATED +HP:0010650 Small premaxilla NOT_TRANSLATED +HP:0010650 Small primary palate bone NOT_TRANSLATED +HP:0010650 Underdevelopment of premaxilla NOT_TRANSLATED +HP:0010650 Underdevelopment of the premaxilla NOT_TRANSLATED +HP:0010650 Underdevelopment of the primary palate bone NOT_TRANSLATED +HP:0010651 Abnormality of the meninges NOT_TRANSLATED +HP:0010652 Abnormality of the dura mater NOT_TRANSLATED +HP:0010653 Abnormality of the cerebral falx NOT_TRANSLATED +HP:0010654 Absent cerebral falx NOT_TRANSLATED +HP:0010655 Epiphyseal punctate calcifications NOT_TRANSLATED +HP:0010655 Speckled calcifications in end part of bone NOT_TRANSLATED +HP:0010655 Stippled epiphyses NOT_TRANSLATED +HP:0010655 Stippling of the epiphyses NOT_TRANSLATED +HP:0010656 Abnormal maturation of the end part of a bone NOT_TRANSLATED +HP:0010656 Abnormality of the mineralisation or ossification of the epiphyses NOT_TRANSLATED +HP:0010659 Patchy increased and decreased bone mineral density NOT_TRANSLATED +HP:0010660 Abnormal maturation of the hand bones NOT_TRANSLATED +HP:0010660 Abnormal ossification of hand bones NOT_TRANSLATED +HP:0010660 Abnormality of the mineralisation and ossification of bones of the hand NOT_TRANSLATED +HP:0010663 Abnormal shape of thalamus NOT_TRANSLATED +HP:0010663 Abnormality of the thalamus NOT_TRANSLATED +HP:0010664 Fused thalami NOT_TRANSLATED +HP:0010664 Fusion of thamali NOT_TRANSLATED +HP:0010664 Undivided thalami NOT_TRANSLATED +HP:0010666 Decreased length of anterior nasal spine NOT_TRANSLATED +HP:0010666 Decreased projection of anterior nasal spine NOT_TRANSLATED +HP:0010666 Decreased size of anterior nasal spine NOT_TRANSLATED +HP:0010666 Deficiency of anterior nasal spine NOT_TRANSLATED +HP:0010666 Hypotrophic anterior nasal spine NOT_TRANSLATED +HP:0010666 Small anterior nasal spine NOT_TRANSLATED +HP:0010666 Underdevelopment of anterior nasal spine NOT_TRANSLATED +HP:0010667 Absence of the maxilla NOT_TRANSLATED +HP:0010667 Absence of upper jaw bones NOT_TRANSLATED +HP:0010667 Agenesis of the maxilla NOT_TRANSLATED +HP:0010667 Aplasia of the upper jaw bones NOT_TRANSLATED +HP:0010667 Failure of development of maxilla NOT_TRANSLATED +HP:0010667 Failure of development of upper jaw bones NOT_TRANSLATED +HP:0010667 Missing upper jaw bones NOT_TRANSLATED +HP:0010668 Abnormal malar bone morphology NOT_TRANSLATED +HP:0010668 Abnormality of the cheekbone NOT_TRANSLATED +HP:0010668 Abnormality of the zygomatic bone NOT_TRANSLATED +HP:0010668 Anomaly of the zygomatic bone NOT_TRANSLATED +HP:0010668 Deformity of the cheekbone NOT_TRANSLATED +HP:0010668 Deformity of the zygomatic bone NOT_TRANSLATED +HP:0010668 Malformation of the zygomatic bone NOT_TRANSLATED +HP:0010669 Cheekbone underdevelopment NOT_TRANSLATED +HP:0010669 Decreased size of cheekbone NOT_TRANSLATED +HP:0010669 Decreased size of zygomatic bone NOT_TRANSLATED +HP:0010669 Depressed cheekbone NOT_TRANSLATED +HP:0010669 Depressed zygomatic bone NOT_TRANSLATED +HP:0010669 Flattening of the zygomatic bone NOT_TRANSLATED +HP:0010669 Hypoplasia of cheekbone NOT_TRANSLATED +HP:0010669 Hypotrophic cheekbone NOT_TRANSLATED +HP:0010669 Hypotrophic zygomatic bone NOT_TRANSLATED +HP:0010669 Hypotrophy of the cheekbone NOT_TRANSLATED +HP:0010669 Hypotrophy of the zygomatic bone NOT_TRANSLATED +HP:0010669 Small cheekbone NOT_TRANSLATED +HP:0010669 Small malar bone NOT_TRANSLATED +HP:0010669 Small zygomatic bone NOT_TRANSLATED +HP:0010669 Underdevelopment of cheekbone NOT_TRANSLATED +HP:0010669 Underdevelopment of zygomatic bone NOT_TRANSLATED +HP:0010672 Abnormality of the 3rd long bone of foot NOT_TRANSLATED +HP:0010674 Abnormal curve of the backbone NOT_TRANSLATED +HP:0010674 Abnormal curve of the spine NOT_TRANSLATED +HP:0010674 Abnormal curving of the spine NOT_TRANSLATED +HP:0010674 Curvature of spine NOT_TRANSLATED +HP:0010674 Curved spine NOT_TRANSLATED +HP:0010675 Abnormal maturation of foot bones NOT_TRANSLATED +HP:0010675 Abnormal ossification involving bones of the feet NOT_TRANSLATED +HP:0010675 Abnormality of the mineralisation and ossification of bones of the feet NOT_TRANSLATED +HP:0010677 Nocturnal enuresis NOT_TRANSLATED +HP:0010679 Elevated alkaline phosphatase, liver/bone/kidney NOT_TRANSLATED +HP:0010679 Elevated tissue non-specific ALP NOT_TRANSLATED +HP:0010680 Elevated ALP of renal origin NOT_TRANSLATED +HP:0010681 Elevated intestinal ALP NOT_TRANSLATED +HP:0010682 Elevated placental ALP NOT_TRANSLATED +HP:0010683 Low tissue non-specific ALP NOT_TRANSLATED +HP:0010684 Low ALP of bone origin NOT_TRANSLATED +HP:0010685 Low ALP of renal origin NOT_TRANSLATED +HP:0010686 Low ALP of hepatic origin NOT_TRANSLATED +HP:0010687 Low intestinal ALP NOT_TRANSLATED +HP:0010688 Low placental ALP NOT_TRANSLATED +HP:0010689 Mirror image duplication of digits NOT_TRANSLATED +HP:0010690 Mirror image dupliction of fingers NOT_TRANSLATED +HP:0010691 Mirror image dupliction of toes NOT_TRANSLATED +HP:0010692 Webbed 2nd-5th fingers NOT_TRANSLATED +HP:0010692 Webbed index, middle and little finger NOT_TRANSLATED +HP:0010692 Webbed index, middle and pinkie finger NOT_TRANSLATED +HP:0010692 Webbed index, middle and pinky finger NOT_TRANSLATED +HP:0010697 Pyramidal cataract NOT_TRANSLATED +HP:0010698 Central pulverulent cataract NOT_TRANSLATED +HP:0010698 Coppock-like cataract NOT_TRANSLATED +HP:0010698 Pulverulent nuclear cataract NOT_TRANSLATED +HP:0010698 cataracta pulverulenta centralis NOT_TRANSLATED +HP:0010701 Abnormal immunoglobulin concentration NOT_TRANSLATED +HP:0010701 Abnormal serum immunoglobulin concentration NOT_TRANSLATED +HP:0010701 Abnormal serum immunoglobulin levels NOT_TRANSLATED +HP:0010701 Abnormal serum level of immunoglobulin NOT_TRANSLATED +HP:0010701 Immunoglobulin abnormality NOT_TRANSLATED +HP:0010702 Elevated immunoglobulin levels NOT_TRANSLATED +HP:0010702 Hypergammaglobulinaemia NOT_TRANSLATED +HP:0010702 Hypergammaglobulinemia NOT_TRANSLATED +HP:0010702 Hyperglobulinemia NOT_TRANSLATED +HP:0010702 Increased antibody level in blood NOT_TRANSLATED +HP:0010702 Increased gamma globulin NOT_TRANSLATED +HP:0010702 Increased immunoglobulin level NOT_TRANSLATED +HP:0010702 Increased serum gamma globulin NOT_TRANSLATED +HP:0010702 Raised immunoglobulin levels NOT_TRANSLATED +HP:0010704 Webbed 1st-2nd finger NOT_TRANSLATED +HP:0010704 Webbed thumb and index finger NOT_TRANSLATED +HP:0010705 Webbed 4th-5th finger NOT_TRANSLATED +HP:0010706 Webbed 1st-3rd finger NOT_TRANSLATED +HP:0010707 Webbed 1st-4th finger NOT_TRANSLATED +HP:0010708 Webbed 1-5 fingers NOT_TRANSLATED +HP:0010708 Webbed 1st-5th fingers NOT_TRANSLATED +HP:0010709 Syndactyly of second to fourth fingers NOT_TRANSLATED +HP:0010709 Webbed index through ring fingers NOT_TRANSLATED +HP:0010710 Webbed third, fourth and fifth toes NOT_TRANSLATED +HP:0010711 Webbed 1st-2nd toes NOT_TRANSLATED +HP:0010711 Webbed first and second toes NOT_TRANSLATED +HP:0010712 Webbed first through fourth toes NOT_TRANSLATED +HP:0010713 Syndactyly of all toes NOT_TRANSLATED +HP:0010713 Webbed 1st-5th toes NOT_TRANSLATED +HP:0010714 Syndactyly of toes 2, 3 and 4 NOT_TRANSLATED +HP:0010714 Syndactyly toes 2-4 NOT_TRANSLATED +HP:0010714 Webbed 2nd-4th toes NOT_TRANSLATED +HP:0010715 Webbed 2nd-5th toes NOT_TRANSLATED +HP:0010716 Webbed 3rd-5th toes NOT_TRANSLATED +HP:0010717 Osseous syndactyly of the toes NOT_TRANSLATED +HP:0010719 Abnormality of hair consistency NOT_TRANSLATED +HP:0010719 Abnormality of hair curl pattern NOT_TRANSLATED +HP:0010719 Abnormality of hair volume NOT_TRANSLATED +HP:0010720 Abnormal distribution of hair NOT_TRANSLATED +HP:0010721 Abnormal hair whorls NOT_TRANSLATED +HP:0010721 Abnormal whorl of hair NOT_TRANSLATED +HP:0010722 Asymmetric ears NOT_TRANSLATED +HP:0010726 Prominent corneal nerve fibres NOT_TRANSLATED +HP:0010726 Visible corneal nerve fibers NOT_TRANSLATED +HP:0010726 Visible corneal nerve fibres NOT_TRANSLATED +HP:0010728 Absent retina NOT_TRANSLATED +HP:0010729 Macular cherry red spot NOT_TRANSLATED +HP:0010730 Duplication of eyebrow NOT_TRANSLATED +HP:0010732 Eyelid nodules NOT_TRANSLATED +HP:0010733 Port-wine stain on eyelid NOT_TRANSLATED +HP:0010741 Dependant edema NOT_TRANSLATED +HP:0010741 Dependant oedema NOT_TRANSLATED +HP:0010741 Edema of the lower limbs NOT_TRANSLATED +HP:0010741 Fluid accumulation in lower limbs NOT_TRANSLATED +HP:0010741 Leg edema NOT_TRANSLATED +HP:0010741 Leg oedema NOT_TRANSLATED +HP:0010741 Lower leg swelling NOT_TRANSLATED +HP:0010741 Oedema of the lower limbs NOT_TRANSLATED +HP:0010741 Pedal oedema NOT_TRANSLATED +HP:0010741 Peripheral edema of lower extremity NOT_TRANSLATED +HP:0010741 Peripheral oedema of lower extremity NOT_TRANSLATED +HP:0010742 Fluid accumulation in upper limbs NOT_TRANSLATED +HP:0010742 Oedema of the upper limbs NOT_TRANSLATED +HP:0010743 Hypoplasia of the metatarsal bones NOT_TRANSLATED +HP:0010743 Hypoplastic metatarsals NOT_TRANSLATED +HP:0010743 Short long bone of foot NOT_TRANSLATED +HP:0010743 Short metatarsal bone NOT_TRANSLATED +HP:0010743 Short metatarsal bones NOT_TRANSLATED +HP:0010743 Short metatarsals NOT_TRANSLATED +HP:0010743 Shortened metatarsals NOT_TRANSLATED +HP:0010744 Absent long bone of foot NOT_TRANSLATED +HP:0010744 Aplasia of the metatarsal bones NOT_TRANSLATED +HP:0010745 Absent bones of the toes NOT_TRANSLATED +HP:0010745 Aphalangia of the toes NOT_TRANSLATED +HP:0010746 Small toe bones NOT_TRANSLATED +HP:0010747 Medially flared eyebrows NOT_TRANSLATED +HP:0010748 Abnormal position of the lacrimal punctum NOT_TRANSLATED +HP:0010749 Saggy upper eyelid skin NOT_TRANSLATED +HP:0010750 Baggy eyes NOT_TRANSLATED +HP:0010750 Droopy eyelid skin NOT_TRANSLATED +HP:0010750 Extra eyelid skin NOT_TRANSLATED +HP:0010750 Eyelid dermatochalasia NOT_TRANSLATED +HP:0010750 Hooding of eyelids NOT_TRANSLATED +HP:0010750 Redundant eyelid skin NOT_TRANSLATED +HP:0010751 Chin butt NOT_TRANSLATED +HP:0010751 Chin dent NOT_TRANSLATED +HP:0010751 Chin dimple NOT_TRANSLATED +HP:0010751 Chin dimples NOT_TRANSLATED +HP:0010751 Chin skin dimple NOT_TRANSLATED +HP:0010751 Gelasin of chin NOT_TRANSLATED +HP:0010751 Indentation of chin NOT_TRANSLATED +HP:0010752 Cleft lower jaw NOT_TRANSLATED +HP:0010752 Mandibular cleft NOT_TRANSLATED +HP:0010753 Midline cleft of mandible NOT_TRANSLATED +HP:0010754 Abnormality of the jaw joint NOT_TRANSLATED +HP:0010754 Anomaly of the temporomandibular joint NOT_TRANSLATED +HP:0010754 Deformity of the jaw joint NOT_TRANSLATED +HP:0010754 Deformity of the temporomandibular joint NOT_TRANSLATED +HP:0010754 Derangement of the temporomandibular joint NOT_TRANSLATED +HP:0010754 Malformation of jaw joint NOT_TRANSLATED +HP:0010754 Malformation of the temporomandibular joint NOT_TRANSLATED +HP:0010755 Asymmetry of right and left side of the maxilla NOT_TRANSLATED +HP:0010755 Asymmetry of the upper jaw NOT_TRANSLATED +HP:0010755 Asymmetry of upper jaw NOT_TRANSLATED +HP:0010755 Canted maxilla NOT_TRANSLATED +HP:0010755 Canted upper jaw NOT_TRANSLATED +HP:0010755 Crooked maxilla NOT_TRANSLATED +HP:0010755 Crooked upper jaw NOT_TRANSLATED +HP:0010755 Deviation of the maxilla NOT_TRANSLATED +HP:0010755 Deviation of the upper jaw NOT_TRANSLATED +HP:0010755 Tilted maxilla NOT_TRANSLATED +HP:0010755 Tilted upper jaw NOT_TRANSLATED +HP:0010755 Unequal sides of maxilla NOT_TRANSLATED +HP:0010755 Uneven maxilla NOT_TRANSLATED +HP:0010755 Uneven upper jaw NOT_TRANSLATED +HP:0010756 Aplasia/hypoplasia of the intermaxillary bone NOT_TRANSLATED +HP:0010756 Aplasia/hypoplasia of the primary palate bone NOT_TRANSLATED +HP:0010757 Absence of the intermaxillary bone NOT_TRANSLATED +HP:0010757 Absence of the premaxilla NOT_TRANSLATED +HP:0010757 Absence of the primary palate bone NOT_TRANSLATED +HP:0010757 Aplasia of the intermaxillary bone NOT_TRANSLATED +HP:0010757 Aplasia of the primary palate bone NOT_TRANSLATED +HP:0010757 Failure of development of premaxilla NOT_TRANSLATED +HP:0010757 Failure of development of the primary palate bone NOT_TRANSLATED +HP:0010757 Missing premaxilla NOT_TRANSLATED +HP:0010757 Missing primary palate bone NOT_TRANSLATED +HP:0010758 Abnormality of the intermaxillary bone NOT_TRANSLATED +HP:0010758 Abnormality of the intermaxillary segment of the maxilla NOT_TRANSLATED +HP:0010758 Abnormality of the premaxillary bone NOT_TRANSLATED +HP:0010758 Abnormality of the primary palate bone NOT_TRANSLATED +HP:0010759 Anterior position of the premaxilla NOT_TRANSLATED +HP:0010759 Anterior position of the primary palate bone NOT_TRANSLATED +HP:0010759 Premaxillary bone excess NOT_TRANSLATED +HP:0010759 Prominence of the intermaxillary bone NOT_TRANSLATED +HP:0010759 Prominence of the primary palate bone NOT_TRANSLATED +HP:0010759 Prominent premaxilla NOT_TRANSLATED +HP:0010760 Absent toes NOT_TRANSLATED +HP:0010760 Aplasia of the toes NOT_TRANSLATED +HP:0010760 Aplasia of toe NOT_TRANSLATED +HP:0010761 Columella, broad NOT_TRANSLATED +HP:0010761 Columella, wide NOT_TRANSLATED +HP:0010761 Fullness of columella NOT_TRANSLATED +HP:0010761 Hyperplasia of columella NOT_TRANSLATED +HP:0010761 Increased width of columella NOT_TRANSLATED +HP:0010763 Ala higher than columella NOT_TRANSLATED +HP:0010763 Columella, low insertion NOT_TRANSLATED +HP:0010764 Decreased length of eyelashes NOT_TRANSLATED +HP:0010769 Pilonidal cyst NOT_TRANSLATED +HP:0010771 Sacrococcygeal fistula NOT_TRANSLATED +HP:0010773 Partial anomalous pulmonary venous connection NOT_TRANSLATED +HP:0010774 Triatrial heart NOT_TRANSLATED +HP:0010775 Vascular ring of aorta NOT_TRANSLATED +HP:0010779 Large pelvis NOT_TRANSLATED +HP:0010780 Loudness intolerance NOT_TRANSLATED +HP:0010780 Sensitivity to noise NOT_TRANSLATED +HP:0010781 Skin dimples NOT_TRANSLATED +HP:0010782 Acromial dimple NOT_TRANSLATED +HP:0010782 Bi-acromial dimples NOT_TRANSLATED +HP:0010782 Shoulder dimples NOT_TRANSLATED +HP:0010783 Redness of skin or mucous membrane NOT_TRANSLATED +HP:0010784 Uterine cancer NOT_TRANSLATED +HP:0010784 Uterine neoplasia NOT_TRANSLATED +HP:0010784 Uterine tumor NOT_TRANSLATED +HP:0010784 Uterine tumour NOT_TRANSLATED +HP:0010785 Gonadal neoplasia NOT_TRANSLATED +HP:0010786 Urinary tract neoplasia NOT_TRANSLATED +HP:0010787 Genital neoplasia NOT_TRANSLATED +HP:0010787 Genital tumor NOT_TRANSLATED +HP:0010787 Genital tumour NOT_TRANSLATED +HP:0010788 Testicular cancer NOT_TRANSLATED +HP:0010788 Testicular neoplasia NOT_TRANSLATED +HP:0010788 Testicular tumor NOT_TRANSLATED +HP:0010788 Testicular tumour NOT_TRANSLATED +HP:0010793 Notched nail NOT_TRANSLATED +HP:0010793 duplicated nail NOT_TRANSLATED +HP:0010797 Haemangioblastoma NOT_TRANSLATED +HP:0010798 Ephelis of lip NOT_TRANSLATED +HP:0010798 Labial lentigo NOT_TRANSLATED +HP:0010798 Lip lentigo NOT_TRANSLATED +HP:0010800 Agenesis of cupid's bow NOT_TRANSLATED +HP:0010800 Aplasia of cupid's bow NOT_TRANSLATED +HP:0010800 Failure of development of cupid's bow NOT_TRANSLATED +HP:0010800 Lack of cupid's bow NOT_TRANSLATED +HP:0010800 Missing cupid's bow NOT_TRANSLATED +HP:0010801 Flat nasolabial fold NOT_TRANSLATED +HP:0010801 Nasolabial crease, hypoplastic NOT_TRANSLATED +HP:0010801 Nasolabial crease, underdeveloped NOT_TRANSLATED +HP:0010801 Nasolabial fold, hypoplastic NOT_TRANSLATED +HP:0010801 Shallow nasolabial fold NOT_TRANSLATED +HP:0010802 Darkening of skin around the mouth NOT_TRANSLATED +HP:0010802 Increased pigmentation around the mouth NOT_TRANSLATED +HP:0010803 Drooping upper lip NOT_TRANSLATED +HP:0010803 Eclabium of upper lip NOT_TRANSLATED +HP:0010803 Everted prominent upper lip NOT_TRANSLATED +HP:0010803 Everted upper lip NOT_TRANSLATED +HP:0010803 Outward turned upper lip NOT_TRANSLATED +HP:0010803 Protruding upper lip NOT_TRANSLATED +HP:0010804 Inverted V-shaped upper lip NOT_TRANSLATED +HP:0010804 Tented mouth NOT_TRANSLATED +HP:0010804 Tented upper lip NOT_TRANSLATED +HP:0010805 Upturned mouth NOT_TRANSLATED +HP:0010805 Upturned oral commisures NOT_TRANSLATED +HP:0010806 Carp-like mouth NOT_TRANSLATED +HP:0010806 Carp-shaped mouth NOT_TRANSLATED +HP:0010806 Fish mouth NOT_TRANSLATED +HP:0010806 Large, carp-shaped mouth NOT_TRANSLATED +HP:0010806 Wide, carp-shaped mouth NOT_TRANSLATED +HP:0010807 Absence of overlap of upper and lower teeth NOT_TRANSLATED +HP:0010807 Open bite between upper and lower teeth NOT_TRANSLATED +HP:0010808 Lingual prolapse NOT_TRANSLATED +HP:0010808 Lingual prominence NOT_TRANSLATED +HP:0010808 Lingual protrusion NOT_TRANSLATED +HP:0010808 Prolapse of tongue NOT_TRANSLATED +HP:0010808 Prominent tongue NOT_TRANSLATED +HP:0010808 Tongue protrusion NOT_TRANSLATED +HP:0010808 Tongue sticking out of mouth NOT_TRANSLATED +HP:0010809 Wide uvula NOT_TRANSLATED +HP:0010810 Elongated uvula NOT_TRANSLATED +HP:0010810 Hyperplasia of uvula NOT_TRANSLATED +HP:0010810 Long palatine uvula NOT_TRANSLATED +HP:0010811 Narrow palatine uvula NOT_TRANSLATED +HP:0010811 Thin uvula NOT_TRANSLATED +HP:0010812 Blunt uvula NOT_TRANSLATED +HP:0010812 Hypoplastic uvula NOT_TRANSLATED +HP:0010812 Short palatine uvula NOT_TRANSLATED +HP:0010813 Abnormal number of hair swirls NOT_TRANSLATED +HP:0010813 Double crown (hair whorls) NOT_TRANSLATED +HP:0010813 Extra hair swirls NOT_TRANSLATED +HP:0010813 Extra hair whorl NOT_TRANSLATED +HP:0010813 Supernumary hair swirls NOT_TRANSLATED +HP:0010813 Supernumary hair whorl NOT_TRANSLATED +HP:0010814 Abnormal location of hair swirl NOT_TRANSLATED +HP:0010815 Naevus sebaceous NOT_TRANSLATED +HP:0010815 Organoid nevus NOT_TRANSLATED +HP:0010815 Sebaceous mole NOT_TRANSLATED +HP:0010815 Sebaceous naevus NOT_TRANSLATED +HP:0010815 Sebaceous nevus NOT_TRANSLATED +HP:0010816 Epidermal nevi NOT_TRANSLATED +HP:0010818 Generalised hypertonic seizure NOT_TRANSLATED +HP:0010818 Generalised tonic seizure NOT_TRANSLATED +HP:0010818 Generalised tonic seizures NOT_TRANSLATED +HP:0010818 Generalized hypertonic seizure NOT_TRANSLATED +HP:0010818 Generalized tonic seizures NOT_TRANSLATED +HP:0010818 Hypertonic seizures NOT_TRANSLATED +HP:0010819 Astatic seizure NOT_TRANSLATED +HP:0010819 Astatic seizures NOT_TRANSLATED +HP:0010819 Atonic seizures NOT_TRANSLATED +HP:0010819 Drop attacks NOT_TRANSLATED +HP:0010819 Drop seizures NOT_TRANSLATED +HP:0010819 Hypotonic seizure NOT_TRANSLATED +HP:0010819 Hypotonic seizures NOT_TRANSLATED +HP:0010819 Sudden loss of muscle tone NOT_TRANSLATED +HP:0010820 Dacrystic seizure NOT_TRANSLATED +HP:0010820 Dacrystic seizures NOT_TRANSLATED +HP:0010821 Gelastic seizure NOT_TRANSLATED +HP:0010821 Gelastic seizures NOT_TRANSLATED +HP:0010823 Cranial suture ridges NOT_TRANSLATED +HP:0010824 Afwijking van de nervus trigeminus CANDIDATE +HP:0010824 Afwijking van de nervus trigeminus CANDIDATE +HP:0010825 Abnormality of cranial nerve XI NOT_TRANSLATED +HP:0010825 Abnormality of the accessory nerve NOT_TRANSLATED +HP:0010826 Abnormality of cranial nerve 12 NOT_TRANSLATED +HP:0010826 Abnormality of cranial nerve xii NOT_TRANSLATED +HP:0010826 Abnormality of the hypoglossal nerve NOT_TRANSLATED +HP:0010827 Afwijking van de nervus facialis CANDIDATE +HP:0010828 Hemifacial spasms NOT_TRANSLATED +HP:0010828 Spasms on one side of the face NOT_TRANSLATED +HP:0010829 Abnormality of temperature sensation NOT_TRANSLATED +HP:0010829 Impaired thermal sensitivity NOT_TRANSLATED +HP:0010829 Loss of temperature sensation NOT_TRANSLATED +HP:0010830 Abnormal thigmesthesia NOT_TRANSLATED +HP:0010830 Impaired touch sensation NOT_TRANSLATED +HP:0010830 Loss of tactile sensation NOT_TRANSLATED +HP:0010831 Abnormality of proprioception NOT_TRANSLATED +HP:0010834 Trophic changes NOT_TRANSLATED +HP:0010836 Abnormal copper levels NOT_TRANSLATED +HP:0010837 Decreased serum ceruloplasmin NOT_TRANSLATED +HP:0010837 Decreased serum ceruloplasminA NOT_TRANSLATED +HP:0010837 Hypoceruloplasminaemia NOT_TRANSLATED +HP:0010837 Hypoceruloplasminemia NOT_TRANSLATED +HP:0010841 Multifocal EEG abnormality NOT_TRANSLATED +HP:0010843 EEG: focal slow activity NOT_TRANSLATED +HP:0010843 EEG: localised slow activity NOT_TRANSLATED +HP:0010843 EEG: localized slow activity NOT_TRANSLATED +HP:0010845 EEG with generalised slow activity NOT_TRANSLATED +HP:0010845 EEG: generalised slow activity NOT_TRANSLATED +HP:0010845 EEG: generalized slow activity NOT_TRANSLATED +HP:0010846 EEG: persistent abnormal rhythmic activity NOT_TRANSLATED +HP:0010847 Electroencephalogram demonstrated spike-slow wave discharges NOT_TRANSLATED +HP:0010849 EEG with 3-4-Hz spike waves NOT_TRANSLATED +HP:0010852 Photoparoxysmal response on EEG NOT_TRANSLATED +HP:0010853 EEG: periodic lateralized epileptiform discharges NOT_TRANSLATED +HP:0010854 EEG with generalised low amplitude activity NOT_TRANSLATED +HP:0010854 EEG: generalised low amplitude activity NOT_TRANSLATED +HP:0010855 EEG with localised low amplitude activity NOT_TRANSLATED +HP:0010855 EEG: localised low amplitude activity NOT_TRANSLATED +HP:0010856 EEG: periodic complexes NOT_TRANSLATED +HP:0010856 Radermecker complexes NOT_TRANSLATED +HP:0010857 EEG: periodic abnormalities NOT_TRANSLATED +HP:0010864 Early and severe mental retardation NOT_TRANSLATED +HP:0010864 Mental retardation, severe NOT_TRANSLATED +HP:0010864 Severe mental retardation NOT_TRANSLATED +HP:0010866 Congenital anterior abdominal wall defect NOT_TRANSLATED +HP:0010871 Afferent ataxia NOT_TRANSLATED +HP:0010871 Ataxia, sensory NOT_TRANSLATED +HP:0010871 Spinal ataxia NOT_TRANSLATED +HP:0010872 EKG: T-wave inversion NOT_TRANSLATED +HP:0010874 Tendon xanthomas NOT_TRANSLATED +HP:0010876 Abnormal circulating protein level NOT_TRANSLATED +HP:0010876 Abnormality of circulating protein level NOT_TRANSLATED +HP:0010876 Blood protein disease NOT_TRANSLATED +HP:0010876 Serum protein abnormality NOT_TRANSLATED +HP:0010877 Unilateral strabismus NOT_TRANSLATED +HP:0010878 Foetal cystic hygroma NOT_TRANSLATED +HP:0010881 Umbilical cord issue NOT_TRANSLATED +HP:0010883 Aortic atresia NOT_TRANSLATED +HP:0010885 Aseptic bone necrosis NOT_TRANSLATED +HP:0010885 Aseptic necrosis NOT_TRANSLATED +HP:0010885 Bone infarction NOT_TRANSLATED +HP:0010885 Death of bone due to decreased blood supply NOT_TRANSLATED +HP:0010885 Ischaemic bone necrosis NOT_TRANSLATED +HP:0010885 Ischemic bone necrosis NOT_TRANSLATED +HP:0010885 Osteochondronecrosis NOT_TRANSLATED +HP:0010885 Osteonecrosis NOT_TRANSLATED +HP:0010886 Osteochondrosis dissecans NOT_TRANSLATED +HP:0010889 Kienboeck's disease NOT_TRANSLATED +HP:0010889 Kienböck's disease NOT_TRANSLATED +HP:0010889 Lunatomalacia NOT_TRANSLATED +HP:0010890 Osgood Schlatter disease NOT_TRANSLATED +HP:0010891 Calve disease NOT_TRANSLATED +HP:0010891 Juvenile osteochondrosis of the spine NOT_TRANSLATED +HP:0010891 Scheuermann disease NOT_TRANSLATED +HP:0010891 Scheuermann kyphosis NOT_TRANSLATED +HP:0010891 Sherman's Disease NOT_TRANSLATED +HP:0010893 Abnormality of phenylalanine metabolism NOT_TRANSLATED +HP:0010894 Abnormality of serine family amino acid metabolism NOT_TRANSLATED +HP:0010896 High plasma sarcosine levels NOT_TRANSLATED +HP:0010897 High urine sarcosine levels NOT_TRANSLATED +HP:0010900 Abnormality of threonine metabolism NOT_TRANSLATED +HP:0010901 Abnormality of methionine metabolism NOT_TRANSLATED +HP:0010904 Abnormality of histidine metabolism NOT_TRANSLATED +HP:0010906 High blood histidine level NOT_TRANSLATED +HP:0010906 Histidinemia NOT_TRANSLATED +HP:0010908 Abnormality of lysine metabolism NOT_TRANSLATED +HP:0010909 Abnormality of arginine metabolism NOT_TRANSLATED +HP:0010910 High blood valine concentration NOT_TRANSLATED +HP:0010911 High blood leucine concentration NOT_TRANSLATED +HP:0010913 High blood isoleucine concentration NOT_TRANSLATED +HP:0010914 Abnormality of valine metabolism NOT_TRANSLATED +HP:0010915 Abnormality of pyruvate family amino acid metabolism NOT_TRANSLATED +HP:0010916 Abnormality of alanine metabolism NOT_TRANSLATED +HP:0010926 Fasciculiform cataract NOT_TRANSLATED +HP:0010926 Frosted cataract NOT_TRANSLATED +HP:0010926 Needle-shaped cataract NOT_TRANSLATED +HP:0010927 Abnormality of divalent inorganic cation homeostasis NOT_TRANSLATED +HP:0010929 Abnormality of cation homeostasis NOT_TRANSLATED +HP:0010930 Abnormality of monovalent inorganic cation homeostasis NOT_TRANSLATED +HP:0010931 Abnormal blood Na+ levels NOT_TRANSLATED +HP:0010931 Abnormal circulating Na concentration NOT_TRANSLATED +HP:0010931 Abnormality of sodium homeostasis NOT_TRANSLATED +HP:0010932 Abnormal nucleoside levels NOT_TRANSLATED +HP:0010933 Increased circulating xanthine concentration NOT_TRANSLATED +HP:0010934 Increased urinary xanthine NOT_TRANSLATED +HP:0010937 Abnormality of the nasal skeleton NOT_TRANSLATED +HP:0010937 Anomaly of the nasal skeleton NOT_TRANSLATED +HP:0010937 Deformity of the bones of the nose NOT_TRANSLATED +HP:0010937 Deformity of the nasal skeleton NOT_TRANSLATED +HP:0010937 Distortion of the bones of the nose NOT_TRANSLATED +HP:0010937 Distortion of the nasal skeleton NOT_TRANSLATED +HP:0010937 Malformation of the bones of the nose NOT_TRANSLATED +HP:0010937 Malformation of the nasal skeleton NOT_TRANSLATED +HP:0010938 Abnormality of the external nose NOT_TRANSLATED +HP:0010938 Anomaly of the external nose NOT_TRANSLATED +HP:0010938 Deformity of the external nose NOT_TRANSLATED +HP:0010938 Malformation of the external nose NOT_TRANSLATED +HP:0010939 Abnormality of the nasal bone NOT_TRANSLATED +HP:0010939 Anomaly of the nasal bones NOT_TRANSLATED +HP:0010939 Deformity of the nasal bones NOT_TRANSLATED +HP:0010939 Malformation of the nasal bones NOT_TRANSLATED +HP:0010941 Absence of the nasal bone NOT_TRANSLATED +HP:0010941 Agenesis of the nasal bone NOT_TRANSLATED +HP:0010941 Failure of development of the nasal bone NOT_TRANSLATED +HP:0010941 Lack of development of the nasal bone NOT_TRANSLATED +HP:0010941 Missing nasal bone NOT_TRANSLATED +HP:0010943 Echogenic bowel NOT_TRANSLATED +HP:0010943 Echogenic foetal bowel NOT_TRANSLATED +HP:0010944 Abnormality of the renal pelvis NOT_TRANSLATED +HP:0010945 Fetal renal pelvic dilatation NOT_TRANSLATED +HP:0010945 Foetal pyelectasis NOT_TRANSLATED +HP:0010945 Foetal renal pelvic dilatation NOT_TRANSLATED +HP:0010945 Mild fetal hydronephrosis NOT_TRANSLATED +HP:0010945 Mild foetal hydronephrosis NOT_TRANSLATED +HP:0010948 Abnormality of the fetal cardiovascular system NOT_TRANSLATED +HP:0010948 Abnormality of the fetal circulation system NOT_TRANSLATED +HP:0010948 Abnormality of the foetal cardiovascular system NOT_TRANSLATED +HP:0010948 Abnormality of the foetal circulation system NOT_TRANSLATED +HP:0010950 Abnormality of the fourth ventricle NOT_TRANSLATED +HP:0010951 Abnormality of the third ventricle NOT_TRANSLATED +HP:0010952 Mild foetal ventriculomegaly NOT_TRANSLATED +HP:0010954 Hypoplastic right heart syndrome NOT_TRANSLATED +HP:0010954 Underdeveloped right heart NOT_TRANSLATED +HP:0010956 Foetal megacystis NOT_TRANSLATED +HP:0010957 Posterior urethral valve NOT_TRANSLATED +HP:0010957 Posterior urethral valves NOT_TRANSLATED +HP:0010959 CCAM NOT_TRANSLATED +HP:0010959 Congenital cystic adenomatoid malformation of the lung NOT_TRANSLATED +HP:0010959 Congenital cystic disease of the lung NOT_TRANSLATED +HP:0010959 Cystic adenomatoid lung disease NOT_TRANSLATED +HP:0010963 Absence of stomach bubble on foetal sonography NOT_TRANSLATED +HP:0010963 Absent stomach bubble NOT_TRANSLATED +HP:0010963 Non-visualisation of the fetal stomach NOT_TRANSLATED +HP:0010965 Abnormal circulating phytanic acid level NOT_TRANSLATED +HP:0010966 Abnormality of fatty acid anion NOT_TRANSLATED +HP:0010967 Carnitine levels abnormal NOT_TRANSLATED +HP:0010972 Anaemia of inadequate production NOT_TRANSLATED +HP:0010972 Anemia, dyserythropoietic NOT_TRANSLATED +HP:0010972 Defective erythropoiesis NOT_TRANSLATED +HP:0010972 Dyserythropoietic anaemia NOT_TRANSLATED +HP:0010972 Dyserythropoietic anemia NOT_TRANSLATED +HP:0010972 Ineffective erythropoiesis NOT_TRANSLATED +HP:0010974 Abnormality of myeloid leukocytes NOT_TRANSLATED +HP:0010975 Abnormal number of B cells NOT_TRANSLATED +HP:0010975 Abnormal numbers of B cells NOT_TRANSLATED +HP:0010975 Abnormality of B cell count NOT_TRANSLATED +HP:0010975 Abnormality of B cell numbers NOT_TRANSLATED +HP:0010976 B cell deficiency NOT_TRANSLATED +HP:0010976 B cell lymphopenia NOT_TRANSLATED +HP:0010976 Decreased B cell count NOT_TRANSLATED +HP:0010976 Low B cell count NOT_TRANSLATED +HP:0010976 Reduction in B cell number NOT_TRANSLATED +HP:0010979 Abnormality of the level of lipoprotein cholesterol NOT_TRANSLATED +HP:0010981 Lack of fat in blood NOT_TRANSLATED +HP:0010991 Abnormality of the abdominal musculature NOT_TRANSLATED +HP:0010993 Abnormality of the cerebral medulla NOT_TRANSLATED +HP:0010993 Abnormality of the cerebral subcortex NOT_TRANSLATED +HP:0010994 Abnormality of the neostriatum NOT_TRANSLATED +HP:0010994 Abnormality of the striate nucleus NOT_TRANSLATED +HP:0010994 Abnormality of the striatum NOT_TRANSLATED +HP:0010997 Chromosomal breakage induced by ionising radiation NOT_TRANSLATED +HP:0010997 Increased cellular radiosensitivity NOT_TRANSLATED +HP:0010997 Radiation-induced chromosome instability NOT_TRANSLATED +HP:0010999 Absent optic tract NOT_TRANSLATED +HP:0011000 Absent/small optic tract NOT_TRANSLATED +HP:0011000 Absent/underdeveloped optic tract NOT_TRANSLATED +HP:0011001 Increased bone density NOT_TRANSLATED +HP:0011001 Osteosclerosis NOT_TRANSLATED +HP:0011001 Osteosclerosis of bones NOT_TRANSLATED +HP:0011002 Albers-Schoenberg disease NOT_TRANSLATED +HP:0011002 Albers-Schonberg disease NOT_TRANSLATED +HP:0011002 Albers-Schönberg disease NOT_TRANSLATED +HP:0011002 Harder, denser, fracture-prone bones NOT_TRANSLATED +HP:0011002 Marble bone disease NOT_TRANSLATED +HP:0011003 Severe myopia NOT_TRANSLATED +HP:0011003 Severe myopia (> -6.00 diopters) NOT_TRANSLATED +HP:0011003 Severe near sightedness NOT_TRANSLATED +HP:0011003 Severely close sighted NOT_TRANSLATED +HP:0011003 Severely near sighted NOT_TRANSLATED +HP:0011004 Abnormal systemic artery morphology NOT_TRANSLATED +HP:0011004 Abnormality of the systemic arterial tree NOT_TRANSLATED +HP:0011004 Arterial abnormalities NOT_TRANSLATED +HP:0011004 Systemic artery abnormality NOT_TRANSLATED +HP:0011006 Abnormality of cervical musculature NOT_TRANSLATED +HP:0011006 Abnormality of the musculature of the neck NOT_TRANSLATED +HP:0011006 Neck muscle issue NOT_TRANSLATED +HP:0011008 Speed of onset NOT_TRANSLATED +HP:0011009 Acute onset NOT_TRANSLATED +HP:0011015 Abnormality of blood glucose concentration NOT_TRANSLATED +HP:0011017 Abnormality of cell physiology NOT_TRANSLATED +HP:0011024 Abnormality of the GI tract NOT_TRANSLATED +HP:0011024 Digestive system disease NOT_TRANSLATED +HP:0011024 Gastrointestinal disease NOT_TRANSLATED +HP:0011025 Abnormality of cardiovascular system physiology NOT_TRANSLATED +HP:0011026 Absent/small vagina NOT_TRANSLATED +HP:0011026 Absent/underdeveloped vagina NOT_TRANSLATED +HP:0011027 Abnormality of the fallopian tube NOT_TRANSLATED +HP:0011028 Blood circulation disorder NOT_TRANSLATED +HP:0011029 Internal bleeding NOT_TRANSLATED +HP:0011029 Internal haemorrhage NOT_TRANSLATED +HP:0011030 Abnormality of transition element cation homeostasis NOT_TRANSLATED +HP:0011032 Fluid imbalance NOT_TRANSLATED +HP:0011034 Amyloid disease NOT_TRANSLATED +HP:0011035 Abnormality of renal cortex morphology NOT_TRANSLATED +HP:0011038 Abnormal renal resorption NOT_TRANSLATED +HP:0011038 Abnormality of renal resorption NOT_TRANSLATED +HP:0011039 Abnormal helices NOT_TRANSLATED +HP:0011039 Abnormality of the helix NOT_TRANSLATED +HP:0011039 Helix abnormal NOT_TRANSLATED +HP:0011040 Abnormality of the intrahepatic bile duct NOT_TRANSLATED +HP:0011041 Absent/small cervical spine NOT_TRANSLATED +HP:0011041 Absent/underdeveloped cervical spine NOT_TRANSLATED +HP:0011042 Abnormal blood K concentration NOT_TRANSLATED +HP:0011042 Abnormality of potassium homeostasis NOT_TRANSLATED +HP:0011043 Abnormality of circulating ACTH level NOT_TRANSLATED +HP:0011043 Abnormality of circulating adrenocorticotropic hormone level NOT_TRANSLATED +HP:0011043 Abnormality of circulating adrenocorticotropin level NOT_TRANSLATED +HP:0011043 Abnormality of circulating corticotropin level NOT_TRANSLATED +HP:0011044 Abnormal complement of permanent teeth NOT_TRANSLATED +HP:0011044 Abnormal number of adult teeth NOT_TRANSLATED +HP:0011044 Abnormal number of secondary dentition NOT_TRANSLATED +HP:0011044 Abnormal permanent tooth count NOT_TRANSLATED +HP:0011045 Absence of permanent maxillary central incisor NOT_TRANSLATED +HP:0011045 Absence of permanent upper central incisor NOT_TRANSLATED +HP:0011045 Absence of permanent upper front tooth NOT_TRANSLATED +HP:0011045 Agenesis of adult maxillary central incisor NOT_TRANSLATED +HP:0011045 Failure of development of permanent maxillary central incisor NOT_TRANSLATED +HP:0011045 Missing adult upper central incisor NOT_TRANSLATED +HP:0011045 Missing permanent maxillary central incisor NOT_TRANSLATED +HP:0011045 Missing permanent upper central incisor NOT_TRANSLATED +HP:0011045 Missing permanent upper front tooth NOT_TRANSLATED +HP:0011046 Absence of deciduous maxillary central incisor NOT_TRANSLATED +HP:0011046 Absence of primary maxillary central incisor NOT_TRANSLATED +HP:0011046 Absence of upper front baby tooth NOT_TRANSLATED +HP:0011046 Agenesis of deciduous maxillary central incisor NOT_TRANSLATED +HP:0011046 Failure of development of deciduous maxillary central incisor NOT_TRANSLATED +HP:0011046 Failure of development of primary maxillary central incisor NOT_TRANSLATED +HP:0011046 Missing deciduous maxillary central incisor NOT_TRANSLATED +HP:0011046 Missing primary maxillary central incisor NOT_TRANSLATED +HP:0011046 Missing upper front baby tooth NOT_TRANSLATED +HP:0011046 Missing upper front milk tooth NOT_TRANSLATED +HP:0011047 Absence of deciduous mandibular central incisor NOT_TRANSLATED +HP:0011047 Absence of primary mandibular central incisor NOT_TRANSLATED +HP:0011047 Agenesis of deciduous lower central incisor NOT_TRANSLATED +HP:0011047 Agenesis of primary lower central incisor NOT_TRANSLATED +HP:0011047 Failure of development of deciduous mandibular central incisor NOT_TRANSLATED +HP:0011047 Failure of development of primary mandibular central incisor NOT_TRANSLATED +HP:0011047 Missing deciduous mandibular central incisor NOT_TRANSLATED +HP:0011047 Missing lower central incisor milk tooth NOT_TRANSLATED +HP:0011047 Missing lower front baby tooth NOT_TRANSLATED +HP:0011047 Missing lower front milk tooth NOT_TRANSLATED +HP:0011047 Missing lower front primary tooth NOT_TRANSLATED +HP:0011047 Missing primary mandibular central incisor NOT_TRANSLATED +HP:0011048 Absence of permanent lower central incisor NOT_TRANSLATED +HP:0011048 Absence of permanent lower front tooth NOT_TRANSLATED +HP:0011048 Absence of permanent mandibular central incisor NOT_TRANSLATED +HP:0011048 Agenesis of adult mandibular central incisor NOT_TRANSLATED +HP:0011048 Failure of development of permanent mandibular central incisor NOT_TRANSLATED +HP:0011048 Missing adult lower central incisor NOT_TRANSLATED +HP:0011048 Missing permanent lower central incisor NOT_TRANSLATED +HP:0011048 Missing permanent lower front tooth NOT_TRANSLATED +HP:0011048 Missing permanent mandibular central incisor NOT_TRANSLATED +HP:0011049 Absence of deciduous maxillary lateral incisor NOT_TRANSLATED +HP:0011049 Absence of primary maxillary lateral incisor NOT_TRANSLATED +HP:0011049 Agenesis of deciduous maxillary lateral incisor NOT_TRANSLATED +HP:0011049 Failure of development of deciduous maxillary lateral incisor NOT_TRANSLATED +HP:0011049 Failure of development of primary maxillary lateral incisor NOT_TRANSLATED +HP:0011049 Missing deciduous maxillary lateral incisor NOT_TRANSLATED +HP:0011049 Missing primary maxillary lateral incisor NOT_TRANSLATED +HP:0011050 Absence of permanent maxillary lateral incisor NOT_TRANSLATED +HP:0011050 Agenesis of permanent upper lateral incisor NOT_TRANSLATED +HP:0011050 Failure of development of permanent maxillary lateral incisor NOT_TRANSLATED +HP:0011050 Failure of development of permanent upper lateral incisor NOT_TRANSLATED +HP:0011050 Missing permanent maxillary lateral incisor NOT_TRANSLATED +HP:0011050 Missing permanent upper lateral incisor NOT_TRANSLATED +HP:0011051 Absence of bicuspid NOT_TRANSLATED +HP:0011051 Absence of premolar NOT_TRANSLATED +HP:0011051 Agenesis of bicuspid NOT_TRANSLATED +HP:0011051 Failure of development of bicuspid NOT_TRANSLATED +HP:0011051 Failure of development of premolar NOT_TRANSLATED +HP:0011051 Missing bicuspid NOT_TRANSLATED +HP:0011051 Missing premolar NOT_TRANSLATED +HP:0011052 Absence of maxillary bicuspid NOT_TRANSLATED +HP:0011052 Absence of maxillary premolar NOT_TRANSLATED +HP:0011052 Absence of upper premolar NOT_TRANSLATED +HP:0011052 Agenesis of maxillary bicuspid NOT_TRANSLATED +HP:0011052 Failure of development of maxillary bicuspid NOT_TRANSLATED +HP:0011052 Failure of development of maxillary premolar NOT_TRANSLATED +HP:0011052 Missing maxillary premolar NOT_TRANSLATED +HP:0011052 Missing upper bicuspid NOT_TRANSLATED +HP:0011052 Missing upper premolar NOT_TRANSLATED +HP:0011053 Absence of lower premolar NOT_TRANSLATED +HP:0011053 Absence of mandibular premolar NOT_TRANSLATED +HP:0011053 Failure of development of mandibular premolar NOT_TRANSLATED +HP:0011053 Missing lower premolar NOT_TRANSLATED +HP:0011053 Missing mandibular premolar NOT_TRANSLATED +HP:0011054 Absence of molar NOT_TRANSLATED +HP:0011054 Absent molars NOT_TRANSLATED +HP:0011054 Failure of development of molar NOT_TRANSLATED +HP:0011054 Missing molar NOT_TRANSLATED +HP:0011055 Absence of adult molar NOT_TRANSLATED +HP:0011055 Absence of permanent molar NOT_TRANSLATED +HP:0011055 Agenesis of secondary molar NOT_TRANSLATED +HP:0011055 Failure of development of permanent molar NOT_TRANSLATED +HP:0011055 Failure of development of secondary molar NOT_TRANSLATED +HP:0011055 Missing adult molar NOT_TRANSLATED +HP:0011055 Missing permanent molar NOT_TRANSLATED +HP:0011056 Absence of first permanent molar NOT_TRANSLATED +HP:0011056 Absence of six year molar NOT_TRANSLATED +HP:0011056 Agenesis of six year molar NOT_TRANSLATED +HP:0011056 Failure of development of first permanent molar NOT_TRANSLATED +HP:0011056 Failure of development of six year molar NOT_TRANSLATED +HP:0011056 Missing first permanent molar NOT_TRANSLATED +HP:0011056 Missing six year molar NOT_TRANSLATED +HP:0011057 Absence of second permanent molar NOT_TRANSLATED +HP:0011057 Absence of twelve year molar NOT_TRANSLATED +HP:0011057 Agenesis of twelve year molar NOT_TRANSLATED +HP:0011057 Failure of development of second permanent molar NOT_TRANSLATED +HP:0011057 Failure of development of twelve year molar NOT_TRANSLATED +HP:0011057 Missing second permanent molar NOT_TRANSLATED +HP:0011057 Missing twelve year molar NOT_TRANSLATED +HP:0011058 Generalised gum disease NOT_TRANSLATED +HP:0011058 Generalised periodontal disease NOT_TRANSLATED +HP:0011058 Generalised periodontitis NOT_TRANSLATED +HP:0011058 Generalized gum disease NOT_TRANSLATED +HP:0011058 Generalized periodontal disease NOT_TRANSLATED +HP:0011058 Widespread gum disease NOT_TRANSLATED +HP:0011059 Limited area of gum disease NOT_TRANSLATED +HP:0011059 Localised gum disease NOT_TRANSLATED +HP:0011059 Localised periodontal disease NOT_TRANSLATED +HP:0011059 Localised periodontitis NOT_TRANSLATED +HP:0011059 Localized gum disease NOT_TRANSLATED +HP:0011059 Localized periodontal disease NOT_TRANSLATED +HP:0011060 Dentinogenesis imperfecta of baby teeth NOT_TRANSLATED +HP:0011061 Abnormality of tooth part NOT_TRANSLATED +HP:0011061 Abnormality of tooth structure NOT_TRANSLATED +HP:0011062 Abnormality of alignment of incisors NOT_TRANSLATED +HP:0011062 Abnormality of position of incisors NOT_TRANSLATED +HP:0011062 Crooked front teeth NOT_TRANSLATED +HP:0011062 Crooked incisors NOT_TRANSLATED +HP:0011062 Malposition of incisors NOT_TRANSLATED +HP:0011063 Abnormality of incisor morphology NOT_TRANSLATED +HP:0011063 Abnormality of shape of incisor NOT_TRANSLATED +HP:0011064 Abnormal number of front teeth NOT_TRANSLATED +HP:0011065 Cone shaped front tooth NOT_TRANSLATED +HP:0011065 Conoid incisor NOT_TRANSLATED +HP:0011065 Peg shaped front tooth NOT_TRANSLATED +HP:0011065 Peg shaped incisors NOT_TRANSLATED +HP:0011065 Peg-shaped incisors NOT_TRANSLATED +HP:0011065 Pointed front tooth NOT_TRANSLATED +HP:0011065 Pointed incisor NOT_TRANSLATED +HP:0011065 Shark tooth incisor NOT_TRANSLATED +HP:0011067 Extra tooth NOT_TRANSLATED +HP:0011067 Extra tooth in the midline NOT_TRANSLATED +HP:0011067 Median supernumary tooth NOT_TRANSLATED +HP:0011067 Mesiodentes NOT_TRANSLATED +HP:0011067 Midline supernumary tooth NOT_TRANSLATED +HP:0011068 Odontomas NOT_TRANSLATED +HP:0011069 Extra teeth NOT_TRANSLATED +HP:0011069 Hyperdontia NOT_TRANSLATED +HP:0011069 Increased number of teeth NOT_TRANSLATED +HP:0011069 Increased tooth count NOT_TRANSLATED +HP:0011069 More teeth than normal NOT_TRANSLATED +HP:0011069 Supernumary dentition NOT_TRANSLATED +HP:0011069 Supernumary teeth NOT_TRANSLATED +HP:0011069 Supernumerary teeth NOT_TRANSLATED +HP:0011069 Supplemental dentition NOT_TRANSLATED +HP:0011069 Supplemental teeth NOT_TRANSLATED +HP:0011069 Tooth, supernumerary NOT_TRANSLATED +HP:0011070 Abnormal shape of molar tooth NOT_TRANSLATED +HP:0011070 Abnormality of molar morphology NOT_TRANSLATED +HP:0011071 Abnormality of shape of adult molar NOT_TRANSLATED +HP:0011071 Abnormality of shape of permanent molar NOT_TRANSLATED +HP:0011072 Absence of tooth root NOT_TRANSLATED +HP:0011072 Agenesis of tooth root NOT_TRANSLATED +HP:0011072 Aplasia of tooth root NOT_TRANSLATED +HP:0011072 Missing tooth root NOT_TRANSLATED +HP:0011072 Teeth without roots NOT_TRANSLATED +HP:0011072 Tooth with dentin dysplasia type i NOT_TRANSLATED +HP:0011073 Abnormality of dental colour NOT_TRANSLATED +HP:0011073 Abnormality of dental shade NOT_TRANSLATED +HP:0011073 Abnormality of tooth color NOT_TRANSLATED +HP:0011073 Abnormality of tooth colour NOT_TRANSLATED +HP:0011073 Abnormality of tooth shade NOT_TRANSLATED +HP:0011074 Localised dysplasia of tooth enamel NOT_TRANSLATED +HP:0011074 Localised hypoplasia of dental enamel NOT_TRANSLATED +HP:0011074 Localised hypoplasia of tooth enamel NOT_TRANSLATED +HP:0011074 Localized dysplasia of tooth enamel NOT_TRANSLATED +HP:0011074 Localized hypoplasia of tooth enamel NOT_TRANSLATED +HP:0011075 Green colored teeth NOT_TRANSLATED +HP:0011075 Green coloured teeth NOT_TRANSLATED +HP:0011075 Green tooth shade NOT_TRANSLATED +HP:0011076 Abnormality of bicuspid NOT_TRANSLATED +HP:0011078 Abnormality of eye tooth NOT_TRANSLATED +HP:0011079 Buried tooth NOT_TRANSLATED +HP:0011079 Retained tooth NOT_TRANSLATED +HP:0011080 Abnormality of bicuspid morphology NOT_TRANSLATED +HP:0011080 Abnormality of premolar morphology NOT_TRANSLATED +HP:0011080 Abnormality of shape of bicuspid NOT_TRANSLATED +HP:0011080 Abnormality of shape of premolar NOT_TRANSLATED +HP:0011081 Hyperplasia of incisor NOT_TRANSLATED +HP:0011081 Hypertrophy of incisor NOT_TRANSLATED +HP:0011081 Increased size of incisor NOT_TRANSLATED +HP:0011081 Increased width of incisor NOT_TRANSLATED +HP:0011081 Large incisor NOT_TRANSLATED +HP:0011082 Cone shaped front baby tooth NOT_TRANSLATED +HP:0011082 Conical deciduous incisor NOT_TRANSLATED +HP:0011082 Conoid primary incisor NOT_TRANSLATED +HP:0011082 Peg shaped front baby tooth NOT_TRANSLATED +HP:0011082 Peg shaped primary incisor NOT_TRANSLATED +HP:0011082 Pointed front baby tooth NOT_TRANSLATED +HP:0011082 Pointed primary incisor NOT_TRANSLATED +HP:0011082 Primary front shark tooth NOT_TRANSLATED +HP:0011083 Cone shaped maxillary incisor NOT_TRANSLATED +HP:0011083 Cone shaped upper front tooth NOT_TRANSLATED +HP:0011083 Conoid maxillary incisor NOT_TRANSLATED +HP:0011083 Peg shaped upper front tooth NOT_TRANSLATED +HP:0011083 Pointed maxillary incisor NOT_TRANSLATED +HP:0011083 Pointed upper front tooth NOT_TRANSLATED +HP:0011083 Upper front shark tooth NOT_TRANSLATED +HP:0011084 Decreased enamel calcification NOT_TRANSLATED +HP:0011084 Poorly calcified tooth enamel NOT_TRANSLATED +HP:0011085 Immature tooth enamel NOT_TRANSLATED +HP:0011085 Soft teeth NOT_TRANSLATED +HP:0011085 Soft tooth enamel NOT_TRANSLATED +HP:0011086 Dentinogenesis imperfecta of adult and baby teeth NOT_TRANSLATED +HP:0011086 Dentinogenesis imperfecta of both sets of teeth NOT_TRANSLATED +HP:0011087 Dens evaginatus NOT_TRANSLATED +HP:0011087 Extra cusp on inside of front tooth NOT_TRANSLATED +HP:0011087 Talon cusps NOT_TRANSLATED +HP:0011088 Dens invaginatus NOT_TRANSLATED +HP:0011088 Tooth within a tooth NOT_TRANSLATED +HP:0011089 Conjoined teeth NOT_TRANSLATED +HP:0011089 Teeth, double NOT_TRANSLATED +HP:0011089 Twinning tooth NOT_TRANSLATED +HP:0011090 Fusion of teeth NOT_TRANSLATED +HP:0011090 Joined teeth NOT_TRANSLATED +HP:0011091 Gemination of tooth NOT_TRANSLATED +HP:0011091 Splitting of crown of tooth NOT_TRANSLATED +HP:0011092 Syphilitic permanent first molar NOT_TRANSLATED +HP:0011093 Enlarged premolar NOT_TRANSLATED +HP:0011093 Increased size of premolar NOT_TRANSLATED +HP:0011093 Molar shape of bicuspid NOT_TRANSLATED +HP:0011093 Molar shape of premolar NOT_TRANSLATED +HP:0011093 Molarization of bicuspid NOT_TRANSLATED +HP:0011094 Deep bite NOT_TRANSLATED +HP:0011094 Deep overbite NOT_TRANSLATED +HP:0011094 Increased overlap of upper and lower incisors NOT_TRANSLATED +HP:0011094 Overbite NOT_TRANSLATED +HP:0011094 Scissors bite NOT_TRANSLATED +HP:0011094 Supraocclusion NOT_TRANSLATED +HP:0011095 Abnormality of horizontal incisor relationship NOT_TRANSLATED +HP:0011095 Buck teeth NOT_TRANSLATED +HP:0011095 Protrusion of the maxillary incisors NOT_TRANSLATED +HP:0011095 Protrusion of upper teeth in front of lower teeth NOT_TRANSLATED +HP:0011095 Upper teeth sticking out forward NOT_TRANSLATED +HP:0011096 Demyelination NOT_TRANSLATED +HP:0011097 Epileptic spasms NOT_TRANSLATED +HP:0011097 Salaam convulsion NOT_TRANSLATED +HP:0011097 Salaam convulsions NOT_TRANSLATED +HP:0011097 Salaam seizure NOT_TRANSLATED +HP:0011097 Salaam seizures NOT_TRANSLATED +HP:0011097 West syndrome NOT_TRANSLATED +HP:0011098 Apraxia of speech NOT_TRANSLATED +HP:0011098 Speech dyspraxia NOT_TRANSLATED +HP:0011098 Verbal dyspraxia NOT_TRANSLATED +HP:0011099 Spastic hemiplegia NOT_TRANSLATED +HP:0011103 Abnormality of the left ventricular outflow tract NOT_TRANSLATED +HP:0011105 Fluid overload in blood NOT_TRANSLATED +HP:0011106 Depleted blood volume NOT_TRANSLATED +HP:0011107 Aphthous stomatitis NOT_TRANSLATED +HP:0011107 Buccal aphthous ulcers NOT_TRANSLATED +HP:0011107 Recurrent aphthous ulcers NOT_TRANSLATED +HP:0011107 Recurrent canker sores NOT_TRANSLATED +HP:0011107 Recurrent oral aphthae NOT_TRANSLATED +HP:0011108 Recurrent sinus disease NOT_TRANSLATED +HP:0011108 Sinusitis, recurrent NOT_TRANSLATED +HP:0011109 Chronic sinus disease NOT_TRANSLATED +HP:0011109 Sinusitis, chronic NOT_TRANSLATED +HP:0011110 Recurrent inflammation of tonsils NOT_TRANSLATED +HP:0011117 Abnormality of IL secretion NOT_TRANSLATED +HP:0011118 Abnormality of cachectin secretion NOT_TRANSLATED +HP:0011118 Abnormality of cachexin secretion NOT_TRANSLATED +HP:0011118 Abnormality of tumour necrosis factor secretion NOT_TRANSLATED +HP:0011119 Abnormal morphology of dorsum of nose NOT_TRANSLATED +HP:0011119 Abnormality of the dorsum of nose NOT_TRANSLATED +HP:0011119 Abnormality of the nasal dorsum NOT_TRANSLATED +HP:0011119 Abnormality of the nasal ridge NOT_TRANSLATED +HP:0011119 Anomaly of the nasal ridge NOT_TRANSLATED +HP:0011119 Crooked dorsum of nose NOT_TRANSLATED +HP:0011119 Crooked nasal dorsum NOT_TRANSLATED +HP:0011119 Crooked nasal ridge NOT_TRANSLATED +HP:0011119 Deformity of the dorsum of the nose NOT_TRANSLATED +HP:0011119 Deformity of the nasal dorsum NOT_TRANSLATED +HP:0011119 Deformity of the nasal ridge NOT_TRANSLATED +HP:0011119 Malformation of the dorsum of nose NOT_TRANSLATED +HP:0011119 Malformation of the nasal dorsum NOT_TRANSLATED +HP:0011119 Malformation of the nasal ridge NOT_TRANSLATED +HP:0011120 Boxer's nasal deformity NOT_TRANSLATED +HP:0011120 Boxer's nose deformity NOT_TRANSLATED +HP:0011120 Concave dorsum of nose NOT_TRANSLATED +HP:0011120 Concave nasal dorsum NOT_TRANSLATED +HP:0011120 Saddle nose NOT_TRANSLATED +HP:0011120 Saddle nose deformity NOT_TRANSLATED +HP:0011120 Saddle shaped nasal dorsum NOT_TRANSLATED +HP:0011120 Ski jump nose NOT_TRANSLATED +HP:0011121 Abnormal skin morphology NOT_TRANSLATED +HP:0011121 Abnormal skin structure NOT_TRANSLATED +HP:0011123 Abnormal tendency to infections of the skin NOT_TRANSLATED +HP:0011123 Dermatitis NOT_TRANSLATED +HP:0011123 Inflammatory skin disease NOT_TRANSLATED +HP:0011123 Skin inflammation NOT_TRANSLATED +HP:0011124 Abnormality of epidermal morphology NOT_TRANSLATED +HP:0011126 Floating kidney NOT_TRANSLATED +HP:0011126 Renal ptosis NOT_TRANSLATED +HP:0011127 Eczema around the mouth NOT_TRANSLATED +HP:0011129 Bilateral fetal pyelectasia NOT_TRANSLATED +HP:0011129 Bilateral foetal pyelectasia NOT_TRANSLATED +HP:0011129 Bilateral foetal pyelectasis NOT_TRANSLATED +HP:0011130 Abnormality of renal calyx morphology NOT_TRANSLATED +HP:0011131 Perianal rash NOT_TRANSLATED +HP:0011133 Increased sensitivity to ionising radiation NOT_TRANSLATED +HP:0011134 Mild fever NOT_TRANSLATED +HP:0011135 Absent/small sweat glands NOT_TRANSLATED +HP:0011135 Absent/underdeveloped sweat glands NOT_TRANSLATED +HP:0011136 Absent sweat glands NOT_TRANSLATED +HP:0011136 Lack of sweat glands NOT_TRANSLATED +HP:0011137 Non-itchy hives NOT_TRANSLATED +HP:0011138 Abnormal skin appendage NOT_TRANSLATED +HP:0011139 Gastric duplication cyst NOT_TRANSLATED +HP:0011140 GI duplication NOT_TRANSLATED +HP:0011141 Clouding of the lens of the eye with age NOT_TRANSLATED +HP:0011146 Behavioral arrest seizure with impairment of awareness irrespective of onset NOT_TRANSLATED +HP:0011146 Behavioural arrest seizure with impairment of awareness irrespective of onset NOT_TRANSLATED +HP:0011146 Unknown onset behavioral arrest seizure with impairment of awareness NOT_TRANSLATED +HP:0011146 Unknown onset behavioural arrest seizure with impairment of awareness NOT_TRANSLATED +HP:0011147 Typical absence NOT_TRANSLATED +HP:0011147 Typical absence seizures NOT_TRANSLATED +HP:0011149 Absence seizures with eyelid myoclonia NOT_TRANSLATED +HP:0011150 Myoclonic absence NOT_TRANSLATED +HP:0011150 Myoclonic absences NOT_TRANSLATED +HP:0011151 Obtundation status NOT_TRANSLATED +HP:0011152 Early onset petit mal seizures NOT_TRANSLATED +HP:0011153 Focal motor seizures NOT_TRANSLATED +HP:0011153 Localised motor seizure NOT_TRANSLATED +HP:0011153 Localised motor seizures NOT_TRANSLATED +HP:0011153 Localized motor seizure NOT_TRANSLATED +HP:0011153 Localized motor seizures NOT_TRANSLATED +HP:0011153 Partial motor seizure NOT_TRANSLATED +HP:0011153 Partial motor seizures NOT_TRANSLATED +HP:0011153 Segmental motor seizure NOT_TRANSLATED +HP:0011154 Focal autonomic seizures NOT_TRANSLATED +HP:0011157 Focal sensory seizures NOT_TRANSLATED +HP:0011157 Partial sensory seizure NOT_TRANSLATED +HP:0011157 Sensory aura NOT_TRANSLATED +HP:0011158 Auditory aura NOT_TRANSLATED +HP:0011158 Focal auditory seizure NOT_TRANSLATED +HP:0011158 Focal sensory auditory seizure NOT_TRANSLATED +HP:0011158 Partial auditory seizure NOT_TRANSLATED +HP:0011159 Abdominal aura NOT_TRANSLATED +HP:0011159 Epigastric aura NOT_TRANSLATED +HP:0011159 Epigastric auras NOT_TRANSLATED +HP:0011159 Localised seizure with epigastric sensation NOT_TRANSLATED +HP:0011159 Localized seizure with epigastric sensation NOT_TRANSLATED +HP:0011159 Partial seizure with epigastric sensation NOT_TRANSLATED +HP:0011159 Visceral aura NOT_TRANSLATED +HP:0011160 Focal gustatory seizure NOT_TRANSLATED +HP:0011160 Focal sensory gustatory seizure NOT_TRANSLATED +HP:0011160 Gustatory aura NOT_TRANSLATED +HP:0011160 Gustatory auras NOT_TRANSLATED +HP:0011160 Partial gustatory seizure NOT_TRANSLATED +HP:0011160 Taste hallucinations NOT_TRANSLATED +HP:0011161 Focal olfactory seizure NOT_TRANSLATED +HP:0011161 Olfactory aura NOT_TRANSLATED +HP:0011161 Olfactory auras NOT_TRANSLATED +HP:0011161 Partial olfactory seizure NOT_TRANSLATED +HP:0011163 Focal somatosensory seizure NOT_TRANSLATED +HP:0011163 Partial somatosensory seizure NOT_TRANSLATED +HP:0011163 Somatosensory aura NOT_TRANSLATED +HP:0011163 Somatosensory auras NOT_TRANSLATED +HP:0011165 Focal visual seizure NOT_TRANSLATED +HP:0011165 Partial visual seizure NOT_TRANSLATED +HP:0011165 Simple partial occipital seizures NOT_TRANSLATED +HP:0011165 Visual aura NOT_TRANSLATED +HP:0011165 Visual auras NOT_TRANSLATED +HP:0011166 Focal myoclonic seizures NOT_TRANSLATED +HP:0011166 Local myoclonic seizures NOT_TRANSLATED +HP:0011166 Localised myoclonic seizure NOT_TRANSLATED +HP:0011166 Localized myoclonic seizure NOT_TRANSLATED +HP:0011166 Partial myoclonic seizure NOT_TRANSLATED +HP:0011166 Partial myoclonic seizures NOT_TRANSLATED +HP:0011166 Segmental myoclonic seizure NOT_TRANSLATED +HP:0011166 Segmental myoclonic seizures NOT_TRANSLATED +HP:0011167 Focal tonic seizures NOT_TRANSLATED +HP:0011167 Local tonic seizures NOT_TRANSLATED +HP:0011167 Localised tonic seizure NOT_TRANSLATED +HP:0011167 Localized tonic seizure NOT_TRANSLATED +HP:0011167 Partial tonic seizure NOT_TRANSLATED +HP:0011167 Partial tonic seizures NOT_TRANSLATED +HP:0011167 Segmental tonic seizure NOT_TRANSLATED +HP:0011168 Eyelid myoclonias NOT_TRANSLATED +HP:0011169 Generalised clonic seizure NOT_TRANSLATED +HP:0011169 Generalised clonic seizures NOT_TRANSLATED +HP:0011169 Generalised onset clonic seizure NOT_TRANSLATED +HP:0011169 Generalised-onset clonic seizure NOT_TRANSLATED +HP:0011169 Generalized clonic seizures NOT_TRANSLATED +HP:0011169 Generalized onset clonic seizure NOT_TRANSLATED +HP:0011169 Generalized-onset clonic seizure NOT_TRANSLATED +HP:0011170 Generalised myoclonic-atonic seizure NOT_TRANSLATED +HP:0011170 Myoclonic atonic seizures NOT_TRANSLATED +HP:0011170 Myoclonic-astatic seizure NOT_TRANSLATED +HP:0011171 Simple febrile convulsion NOT_TRANSLATED +HP:0011171 Simple febrile seizures NOT_TRANSLATED +HP:0011171 Simple fever fit NOT_TRANSLATED +HP:0011172 Complex febrile convulsion NOT_TRANSLATED +HP:0011172 Complex febrile seizures NOT_TRANSLATED +HP:0011172 Complex fever fit NOT_TRANSLATED +HP:0011173 Focal behaviour arrest seizure NOT_TRANSLATED +HP:0011173 Focal hypokinetic seizure NOT_TRANSLATED +HP:0011173 Hypokinetic seizure NOT_TRANSLATED +HP:0011173 Hypokinetic seizures NOT_TRANSLATED +HP:0011173 Localised seizure with behavioural arrest NOT_TRANSLATED +HP:0011173 Localized seizure with behavioral arrest NOT_TRANSLATED +HP:0011173 Partial hypokinetic seizure NOT_TRANSLATED +HP:0011173 Partial seizure with behavior arrest NOT_TRANSLATED +HP:0011173 Partial seizure with behaviour arrest NOT_TRANSLATED +HP:0011174 Hyperkinetic seizures NOT_TRANSLATED +HP:0011174 Localised hyperkinetic seizure NOT_TRANSLATED +HP:0011174 Localized hyperkinetic seizure NOT_TRANSLATED +HP:0011174 Partial hyperkinetic seizure NOT_TRANSLATED +HP:0011174 Segmental hyperkinetic seizure NOT_TRANSLATED +HP:0011175 Versive seizure NOT_TRANSLATED +HP:0011175 Versive seizures NOT_TRANSLATED +HP:0011179 Beta wave electroencephalography NOT_TRANSLATED +HP:0011182 Epileptiform EEG discharges NOT_TRANSLATED +HP:0011184 EEG with hyperventilation-induced generalised epileptiform discharges NOT_TRANSLATED +HP:0011185 Focal EEG Abnormality NOT_TRANSLATED +HP:0011188 Focal EEG discharges with secondary generalisation NOT_TRANSLATED +HP:0011198 EEG with generalised epileptiform discharges NOT_TRANSLATED +HP:0011199 EEG with generalised sharp slow waves NOT_TRANSLATED +HP:0011200 EEG with generalised polymorphic epileptiform discharges NOT_TRANSLATED +HP:0011206 EEG with generalised slow activity grade 1 NOT_TRANSLATED +HP:0011207 EEG with generalised slow activity grade 2 NOT_TRANSLATED +HP:0011208 EEG with generalised slow activity grade 3 NOT_TRANSLATED +HP:0011209 EEG with generalised slow activity grade 4 NOT_TRANSLATED +HP:0011209 Flat line EEG NOT_TRANSLATED +HP:0011217 Abnormal shape of posterior cranium NOT_TRANSLATED +HP:0011217 Abnormal shape of posterior head NOT_TRANSLATED +HP:0011217 Abnormal shape of posterior skull NOT_TRANSLATED +HP:0011217 Abnormal shape of the back of the head NOT_TRANSLATED +HP:0011217 Abnormal shape of the back of the skull NOT_TRANSLATED +HP:0011218 Abnormal morphology of the frontal region NOT_TRANSLATED +HP:0011218 Abnormal shape of the forehead NOT_TRANSLATED +HP:0011218 Dysmorphic forehead NOT_TRANSLATED +HP:0011218 Dysmorphic frontal region NOT_TRANSLATED +HP:0011219 Decreased height of face NOT_TRANSLATED +HP:0011219 Decreased length of face NOT_TRANSLATED +HP:0011219 Decreased vertical dimension of face NOT_TRANSLATED +HP:0011219 Short facies NOT_TRANSLATED +HP:0011219 Vertical Facial Deficiency NOT_TRANSLATED +HP:0011219 Vertical deficiency of face NOT_TRANSLATED +HP:0011219 Vertical facial insufficiency NOT_TRANSLATED +HP:0011219 Vertical hypoplasia of face NOT_TRANSLATED +HP:0011219 Vertical insufficiency of face NOT_TRANSLATED +HP:0011219 Vertical shortening of face NOT_TRANSLATED +HP:0011220 Bulging forehead NOT_TRANSLATED +HP:0011220 Prominence of frontal region NOT_TRANSLATED +HP:0011220 Pronounced forehead NOT_TRANSLATED +HP:0011220 Protruding forehead NOT_TRANSLATED +HP:0011221 Frontal creases of face NOT_TRANSLATED +HP:0011221 Vertical forehead rhytids NOT_TRANSLATED +HP:0011221 Vertical forehead wrinkles NOT_TRANSLATED +HP:0011222 Concave glabella CANDIDATE +HP:0011222 Deficient gebied tussen de wenkbrauwen CANDIDATE +HP:0011222 Deficientië van glabella CANDIDATE +HP:0011222 Hypoplasia van glabella CANDIDATE +HP:0011222 Vlak gebied tussen de wenkbrauwen CANDIDATE +HP:0011222 Vlakke glabella CANDIDATE +HP:0011223 Depression of frontal cranial suture NOT_TRANSLATED +HP:0011223 Depression of metopic cranial suture NOT_TRANSLATED +HP:0011223 Frontal suture depression NOT_TRANSLATED +HP:0011224 Ablepharon of eyelid NOT_TRANSLATED +HP:0011224 Absent eyelids NOT_TRANSLATED +HP:0011224 Agenesis of eyelids NOT_TRANSLATED +HP:0011224 Aplasia of the eyelids NOT_TRANSLATED +HP:0011224 Missing eyelids NOT_TRANSLATED +HP:0011226 Failure of development of eyelid NOT_TRANSLATED +HP:0011226 Hypotrophic eyelid NOT_TRANSLATED +HP:0011227 Elevated C-reactive protein level NOT_TRANSLATED +HP:0011227 Elevated CRP NOT_TRANSLATED +HP:0011228 Flat eyebrow NOT_TRANSLATED +HP:0011228 Lack of eyebrow arch NOT_TRANSLATED +HP:0011228 Lack of eyebrow curvature NOT_TRANSLATED +HP:0011228 Straight eyebrow NOT_TRANSLATED +HP:0011228 Straight eyebrows NOT_TRANSLATED +HP:0011229 Broad eyebrows NOT_TRANSLATED +HP:0011229 Flared eyebrow NOT_TRANSLATED +HP:0011229 Flared eyebrows NOT_TRANSLATED +HP:0011229 Increased vertical height of eyebrow NOT_TRANSLATED +HP:0011229 Increased vertical thickness of eyebrow NOT_TRANSLATED +HP:0011229 Increased vertical width of eyebrow NOT_TRANSLATED +HP:0011230 Increased lateral length of eyebrow NOT_TRANSLATED +HP:0011230 Laterally elongated eyebrow NOT_TRANSLATED +HP:0011230 Laterally extended eyebrows NOT_TRANSLATED +HP:0011231 Thick eyelashes NOT_TRANSLATED +HP:0011232 Dennie-Morgan fold NOT_TRANSLATED +HP:0011232 Infraorbital fold NOT_TRANSLATED +HP:0011233 Conchal shelf NOT_TRANSLATED +HP:0011237 Antihelix, inferior crus, broad NOT_TRANSLATED +HP:0011238 Antihelix, inferior crus, prominent NOT_TRANSLATED +HP:0011238 Hyperplastic inferior crus of antihelix NOT_TRANSLATED +HP:0011238 Hypertrophic inferior crus of antihelix NOT_TRANSLATED +HP:0011239 Antihelix, inferior crus, underdeveloped NOT_TRANSLATED +HP:0011239 Hypoplastic inferior crus of antihelix NOT_TRANSLATED +HP:0011239 Hypotrophic inferior crus of antihelix NOT_TRANSLATED +HP:0011240 Hyperplastic antihelix stem NOT_TRANSLATED +HP:0011240 Hypertrophic antihelix stem NOT_TRANSLATED +HP:0011241 Antihelix, stem, serpiginous NOT_TRANSLATED +HP:0011242 Antihelix, stem, underdeveloped NOT_TRANSLATED +HP:0011243 Abnormality of anterior crus of antihelix NOT_TRANSLATED +HP:0011245 Abnormality of posterior crus of antihelix NOT_TRANSLATED +HP:0011246 Hypoplastic superior crus of antihelix NOT_TRANSLATED +HP:0011246 Hypotrophic superior crus of antihelix NOT_TRANSLATED +HP:0011247 Hyperplastic superior crus of antihelix NOT_TRANSLATED +HP:0011247 Hypertrophic superior crus of antihelix NOT_TRANSLATED +HP:0011250 Double antitragus NOT_TRANSLATED +HP:0011251 Hypoplastic antitragus NOT_TRANSLATED +HP:0011251 Hypotrophic antitragus NOT_TRANSLATED +HP:0011251 Small antitragus NOT_TRANSLATED +HP:0011252 Buried ear NOT_TRANSLATED +HP:0011252 Hidden ear NOT_TRANSLATED +HP:0011253 Type 1 cryptotia NOT_TRANSLATED +HP:0011254 Type 2 cryptotia NOT_TRANSLATED +HP:0011255 Helix, crus, absent NOT_TRANSLATED +HP:0011256 Helix, crus, connected to antihelix NOT_TRANSLATED +HP:0011257 Helix, crus, serpiginous NOT_TRANSLATED +HP:0011258 Helix, crus, tragal bridge NOT_TRANSLATED +HP:0011259 Helix, crus, expanded terminal portion NOT_TRANSLATED +HP:0011260 Helix, Darwin notch NOT_TRANSLATED +HP:0011261 Helix, Darwin tubercle NOT_TRANSLATED +HP:0011262 Helix, crimped NOT_TRANSLATED +HP:0011262 Indented helix NOT_TRANSLATED +HP:0011263 Lobe, forward facing NOT_TRANSLATED +HP:0011264 Helix, discontinuous ascending root NOT_TRANSLATED +HP:0011266 First-degree microtia NOT_TRANSLATED +HP:0011267 Abnormal shape/structure of ear NOT_TRANSLATED +HP:0011267 Third-degree microtia NOT_TRANSLATED +HP:0011269 Notched tragus NOT_TRANSLATED +HP:0011269 Tragus, bifid NOT_TRANSLATED +HP:0011270 Accesory tragus NOT_TRANSLATED +HP:0011270 Tragus, duplicated NOT_TRANSLATED +HP:0011271 Enlarged tragus NOT_TRANSLATED +HP:0011271 Hyperplastic tragus NOT_TRANSLATED +HP:0011271 Hypertrophic tragus NOT_TRANSLATED +HP:0011271 Large tragus NOT_TRANSLATED +HP:0011271 Tragus, prominent NOT_TRANSLATED +HP:0011272 Hypoplastic tragus NOT_TRANSLATED +HP:0011272 Hypotrophic tragus NOT_TRANSLATED +HP:0011272 Small tragus NOT_TRANSLATED +HP:0011273 Unequal size of red blood cells NOT_TRANSLATED +HP:0011276 Skin vascular malformation NOT_TRANSLATED +HP:0011276 Vascular abnormalities restricted to skin NOT_TRANSLATED +HP:0011279 Abnormality of urine HCO3 concentration NOT_TRANSLATED +HP:0011280 Abnormality of urine Ca concentration NOT_TRANSLATED +HP:0011280 Abnormality of urine Ca2+ concentration NOT_TRANSLATED +HP:0011282 Abnormal shape of hindbrain NOT_TRANSLATED +HP:0011282 Abnormality of hindbrain morphology NOT_TRANSLATED +HP:0011282 Abnormality of the hindbrain NOT_TRANSLATED +HP:0011283 Abnormality of the metencephalon NOT_TRANSLATED +HP:0011297 Abnormality of digit NOT_TRANSLATED +HP:0011297 Abnormality of fingers or toes NOT_TRANSLATED +HP:0011297 Digital anomalies NOT_TRANSLATED +HP:0011300 Broad fingertips NOT_TRANSLATED +HP:0011301 Aplasia of the foot NOT_TRANSLATED +HP:0011301 Apodia NOT_TRANSLATED +HP:0011304 Broad phalanges of the thumb NOT_TRANSLATED +HP:0011304 Broad thumbs NOT_TRANSLATED +HP:0011304 Wide/broad thumb NOT_TRANSLATED +HP:0011304 Wide/broad thumb phalanges NOT_TRANSLATED +HP:0011305 Hypophalangy of toes NOT_TRANSLATED +HP:0011308 Narrow toe NOT_TRANSLATED +HP:0011309 Tapering toes NOT_TRANSLATED +HP:0011310 Bridged palm line NOT_TRANSLATED +HP:0011310 Transitional palmar crease NOT_TRANSLATED +HP:0011314 Abnormal shape of long bone NOT_TRANSLATED +HP:0011314 Abnormality of long bone morphology NOT_TRANSLATED +HP:0011314 Abnormality of the tubular bones NOT_TRANSLATED +HP:0011315 Unilateral coronal craniosynostosis NOT_TRANSLATED +HP:0011315 Unilateral coronal suture craniosynostosis NOT_TRANSLATED +HP:0011315 Unilateral coronal suture synostosis NOT_TRANSLATED +HP:0011318 Bilateral coronal craniosynostosis NOT_TRANSLATED +HP:0011318 Bilateral coronal suture craniosynostosis NOT_TRANSLATED +HP:0011318 Bilateral coronal suture synostosis NOT_TRANSLATED +HP:0011319 Bilateral lambdoid craniosynostosis NOT_TRANSLATED +HP:0011319 Bilateral lambdoid suture synostosis NOT_TRANSLATED +HP:0011320 Unilateral lambdoid craniosynostosis NOT_TRANSLATED +HP:0011320 Unilateral lambdoid suture synostosis NOT_TRANSLATED +HP:0011323 Midline defect of chin NOT_TRANSLATED +HP:0011324 Multisutural craniosynostosis NOT_TRANSLATED +HP:0011325 Sysnostosis of all cranial sutures NOT_TRANSLATED +HP:0011326 Anterior flat head syndrome NOT_TRANSLATED +HP:0011326 Coronal synostosis NOT_TRANSLATED +HP:0011326 Deformational anterior plagiocephaly NOT_TRANSLATED +HP:0011326 Deformational frontal plagiocephaly NOT_TRANSLATED +HP:0011326 Frontal plagiocephaly NOT_TRANSLATED +HP:0011326 Positional anterior plagiocephaly NOT_TRANSLATED +HP:0011326 Positional frontal plagiocephaly NOT_TRANSLATED +HP:0011326 Unicoronal craniosynostosis NOT_TRANSLATED +HP:0011327 Deformational posterior plagiocephaly NOT_TRANSLATED +HP:0011327 Occipital plagiocephaly NOT_TRANSLATED +HP:0011328 Anomaly of the fontanelles NOT_TRANSLATED +HP:0011329 Abnormality of the bregma sutures NOT_TRANSLATED +HP:0011329 Abnormality of the calvarium sutures NOT_TRANSLATED +HP:0011329 Abnormality of the cranial sutures NOT_TRANSLATED +HP:0011329 Abnormality of the skull suture NOT_TRANSLATED +HP:0011330 Metopic craniosynostosis NOT_TRANSLATED +HP:0011330 Metopic suture craniosynostosis NOT_TRANSLATED +HP:0011331 Atrophy of half of face NOT_TRANSLATED +HP:0011331 Atrophy of one side of the face NOT_TRANSLATED +HP:0011331 Facial hemiatrophy NOT_TRANSLATED +HP:0011332 Decrease in size of half of face NOT_TRANSLATED +HP:0011332 Decrease in size of one side of the face NOT_TRANSLATED +HP:0011332 Decreased size of half of the face NOT_TRANSLATED +HP:0011332 Decreased size of one side of the face NOT_TRANSLATED +HP:0011332 Hemifacial microsomia NOT_TRANSLATED +HP:0011332 Shrinking of half of face NOT_TRANSLATED +HP:0011332 Shrinking of one side of the face NOT_TRANSLATED +HP:0011333 Hypoplasia of depressor angula oris muscle NOT_TRANSLATED +HP:0011333 Partial unilateral facial paresis NOT_TRANSLATED +HP:0011334 Distortion of facial shape NOT_TRANSLATED +HP:0011334 Facial shape compression NOT_TRANSLATED +HP:0011335 Hairy forehead NOT_TRANSLATED +HP:0011335 Hirsute forehead NOT_TRANSLATED +HP:0011336 Bitemporal aplasia cutis congenita NOT_TRANSLATED +HP:0011336 Congenital ectodermal dysplasia of the face NOT_TRANSLATED +HP:0011336 Congenital, bilateral, scarlike facial lesions NOT_TRANSLATED +HP:0011336 Focal facial dermal dysplasia NOT_TRANSLATED +HP:0011336 Temporal skin defect NOT_TRANSLATED +HP:0011337 Anomaly of mouth size NOT_TRANSLATED +HP:0011338 Anomaly of mouth shape NOT_TRANSLATED +HP:0011338 Unusual mouth shape NOT_TRANSLATED +HP:0011339 Abnormality of the red part of the upper lip NOT_TRANSLATED +HP:0011339 Anomaly of the upper lip vermillion NOT_TRANSLATED +HP:0011339 Deformity of the upper lip vermillion NOT_TRANSLATED +HP:0011339 Malformation of the upper lip vermillion NOT_TRANSLATED +HP:0011340 Forme fruste unilateral cleft lip NOT_TRANSLATED +HP:0011340 Incomplete cheiloschisis NOT_TRANSLATED +HP:0011340 Notched cleft of the upper lip NOT_TRANSLATED +HP:0011340 Partial cleft of the upper lip NOT_TRANSLATED +HP:0011341 Elongation of upper lip NOT_TRANSLATED +HP:0011341 Increased height of upper lip NOT_TRANSLATED +HP:0011341 Increased vertical length of upper lip NOT_TRANSLATED +HP:0011342 Global developmental delay, mild NOT_TRANSLATED +HP:0011342 Psychomotor retardation, mild NOT_TRANSLATED +HP:0011343 Global developmental delay, moderate NOT_TRANSLATED +HP:0011343 Psychomotor retardation, moderate NOT_TRANSLATED +HP:0011344 Global developmental delay, severe NOT_TRANSLATED +HP:0011344 Severe psychomotor retardation NOT_TRANSLATED +HP:0011348 Abnormal abducens nerve morphology NOT_TRANSLATED +HP:0011348 Abnormality of the sixth cranial nerve NOT_TRANSLATED +HP:0011353 Intimal fibrosis NOT_TRANSLATED +HP:0011354 Generalised abnormality of skin NOT_TRANSLATED +HP:0011355 Localised skin lesion NOT_TRANSLATED +HP:0011358 Generalised hypopigmentation of hair NOT_TRANSLATED +HP:0011361 Abnormal hair pattern since birth NOT_TRANSLATED +HP:0011362 Abnormality of hair density NOT_TRANSLATED +HP:0011363 Abnormality of pace of hair growth NOT_TRANSLATED +HP:0011363 Abnormality of speed of hair growth NOT_TRANSLATED +HP:0011368 Abnormality of keratinization NOT_TRANSLATED +HP:0011372 Absent inner ear NOT_TRANSLATED +HP:0011372 Aplasia of the labyrinth NOT_TRANSLATED +HP:0011372 Labyrinthine aplasia NOT_TRANSLATED +HP:0011372 Michel deformity NOT_TRANSLATED +HP:0011375 Absent cochlea NOT_TRANSLATED +HP:0011376 Vestibular abnormality NOT_TRANSLATED +HP:0011377 Absent vestibule NOT_TRANSLATED +HP:0011381 Absent semicircular canal NOT_TRANSLATED +HP:0011382 Hypoplasia of the semicircular canals NOT_TRANSLATED +HP:0011382 Small semicircular canal NOT_TRANSLATED +HP:0011383 Dilated semicircular canal NOT_TRANSLATED +HP:0011384 Abnormality of the internal acoustic meatus NOT_TRANSLATED +HP:0011387 Dilated vestibular aqueduct NOT_TRANSLATED +HP:0011387 Widened vestibular aqueduct NOT_TRANSLATED +HP:0011388 Dilated cochlear aqueduct NOT_TRANSLATED +HP:0011393 Absent cranial nerve viii NOT_TRANSLATED +HP:0011393 Absent the eighth cranial nerve NOT_TRANSLATED +HP:0011393 Absent vestribular nerve NOT_TRANSLATED +HP:0011393 Aplasia of cranial nerve VIII NOT_TRANSLATED +HP:0011393 Aplasia of the eighth cranial nerve NOT_TRANSLATED +HP:0011394 Hypoplasia of cranial nerve VIII NOT_TRANSLATED +HP:0011394 Hypoplasia of the eighth cranial nerve NOT_TRANSLATED +HP:0011394 Thin vestibular nerve NOT_TRANSLATED +HP:0011395 Absent/small cochlea NOT_TRANSLATED +HP:0011395 Absent/underdeveloped cochlea NOT_TRANSLATED +HP:0011399 Sharp shin sign NOT_TRANSLATED +HP:0011399 Tibialis anterior amyotrophy NOT_TRANSLATED +HP:0011399 Tibialis muscle degeneration NOT_TRANSLATED +HP:0011400 Abnormal formation of myelin sheaths NOT_TRANSLATED +HP:0011403 Abnormal umbilical cord blood vessels NOT_TRANSLATED +HP:0011404 Lethal short-trunk dwarfism NOT_TRANSLATED +HP:0011405 Short-limb dwarfism identifiable during childhood NOT_TRANSLATED +HP:0011406 Short-trunk dwarfism, identifiable in infancy NOT_TRANSLATED +HP:0011409 Abnormality of placental membranes NOT_TRANSLATED +HP:0011412 Vacuum extraction NOT_TRANSLATED +HP:0011412 Vacuum-assisted vaginal delivery NOT_TRANSLATED +HP:0011414 Hydrops of the placenta NOT_TRANSLATED +HP:0011415 Placental calcification NOT_TRANSLATED +HP:0011416 Placental thromboembolism NOT_TRANSLATED +HP:0011419 Abruptio placentae NOT_TRANSLATED +HP:0011422 Abnormal blood Cl concentration NOT_TRANSLATED +HP:0011422 Abnormal blood Cl- concentration NOT_TRANSLATED +HP:0011422 Abnormality of chloride homeostasis NOT_TRANSLATED +HP:0011424 Hyperzincemia NOT_TRANSLATED +HP:0011425 Foetal ultrasound soft marker NOT_TRANSLATED +HP:0011426 Foetal choroid plexus cysts NOT_TRANSLATED +HP:0011427 Enlarged foetal cisterna magna NOT_TRANSLATED +HP:0011428 Short fetal thigh bone length NOT_TRANSLATED +HP:0011428 Short foetal femur length NOT_TRANSLATED +HP:0011428 Short foetal thigh bone length NOT_TRANSLATED +HP:0011429 Short fetal long bone in upper arm length NOT_TRANSLATED +HP:0011429 Short foetal humerus length NOT_TRANSLATED +HP:0011429 Short foetal long bone in upper arm length NOT_TRANSLATED +HP:0011430 Hypoplasia of foetal nasal bone NOT_TRANSLATED +HP:0011430 Underdeveloped fetal nose bone NOT_TRANSLATED +HP:0011430 Underdeveloped foetal nose bone NOT_TRANSLATED +HP:0011431 Fetal little finger curvature NOT_TRANSLATED +HP:0011431 Fetal pinkie finger curvature NOT_TRANSLATED +HP:0011431 Fetal pinky finger curvature NOT_TRANSLATED +HP:0011431 Foetal fifth finger clinodactyly NOT_TRANSLATED +HP:0011431 Foetal little finger curvature NOT_TRANSLATED +HP:0011431 Foetal pinkie finger curvature NOT_TRANSLATED +HP:0011431 Foetal pinky finger curvature NOT_TRANSLATED +HP:0011432 High MSAFP MoM NOT_TRANSLATED +HP:0011432 High maternal serum alpha-fetoprotein NOT_TRANSLATED +HP:0011432 High maternal serum alpha-fetoprotein MoM NOT_TRANSLATED +HP:0011432 Increased maternal serum alpha-fetoprotein level NOT_TRANSLATED +HP:0011432 MSAFP MoM>2.5 NOT_TRANSLATED +HP:0011433 High maternal serum chorionic gonadotropin NOT_TRANSLATED +HP:0011433 High maternal serum hCG NOT_TRANSLATED +HP:0011434 Low maternal serum chorionic gonadotropin NOT_TRANSLATED +HP:0011434 Low maternal serum hCG NOT_TRANSLATED +HP:0011435 Low maternal serum PAPP-A NOT_TRANSLATED +HP:0011441 Abnormality of the medulla oblongata NOT_TRANSLATED +HP:0011441 Abnormality of the myencephalon NOT_TRANSLATED +HP:0011442 Abnormality of central motor function NOT_TRANSLATED +HP:0011443 Coordination issue NOT_TRANSLATED +HP:0011445 Dyskinetic cerebral palsy NOT_TRANSLATED +HP:0011447 Hyposegmentation of neutrophil nuclei in peripheral blood NOT_TRANSLATED +HP:0011447 Pelger-Huet anomaly NOT_TRANSLATED +HP:0011448 Abnormal rhythmic movements of ankle NOT_TRANSLATED +HP:0011449 Patellar clonus NOT_TRANSLATED +HP:0011450 Central nervous system infection NOT_TRANSLATED +HP:0011451 Congenital decreased head circumference NOT_TRANSLATED +HP:0011451 Congenital microcephaly NOT_TRANSLATED +HP:0011451 Congenital small head NOT_TRANSLATED +HP:0011451 Congenital small head circumference NOT_TRANSLATED +HP:0011451 Congenital small skull NOT_TRANSLATED +HP:0011451 Decreased head circumference present at birth NOT_TRANSLATED +HP:0011451 Head circumference small for gestational age NOT_TRANSLATED +HP:0011451 Microcephaly present at birth NOT_TRANSLATED +HP:0011451 Small cranium present at birth NOT_TRANSLATED +HP:0011451 Small head circumference present at birth NOT_TRANSLATED +HP:0011451 Small head present at birth NOT_TRANSLATED +HP:0011451 Small skull present at birth NOT_TRANSLATED +HP:0011457 Ciliary Madarosis NOT_TRANSLATED +HP:0011457 Eyelashes fell out NOT_TRANSLATED +HP:0011457 Milphosis NOT_TRANSLATED +HP:0011457 Missing eyelashes NOT_TRANSLATED +HP:0011461 Foetal onset NOT_TRANSLATED +HP:0011463 Symptoms begin in childhood NOT_TRANSLATED +HP:0011466 Absent/small gallbladder NOT_TRANSLATED +HP:0011466 Absent/underdeveloped gallbladder NOT_TRANSLATED +HP:0011467 Agenesis of the gallbladder NOT_TRANSLATED +HP:0011467 Aplasia of the gallbladder NOT_TRANSLATED +HP:0011468 Cramping of facial muscles NOT_TRANSLATED +HP:0011468 Facial spasms NOT_TRANSLATED +HP:0011468 Involuntary facial muscle spasms NOT_TRANSLATED +HP:0011468 Jerking of facial muscles NOT_TRANSLATED +HP:0011468 Mimic spasms NOT_TRANSLATED +HP:0011468 Muscle spasm of face NOT_TRANSLATED +HP:0011468 Myoclonus of facial muscles NOT_TRANSLATED +HP:0011468 Spasms of facial muscles NOT_TRANSLATED +HP:0011468 Twitching of facial muscles NOT_TRANSLATED +HP:0011471 PEG-fed in infancy NOT_TRANSLATED +HP:0011472 Abnormal shape of small intestinal villus NOT_TRANSLATED +HP:0011473 Atrophy of small intestinal villi NOT_TRANSLATED +HP:0011473 Biopsy shows villous atrophy NOT_TRANSLATED +HP:0011473 Duodenal villous atrophy NOT_TRANSLATED +HP:0011473 Small intestine biopsy shows villous atrophy NOT_TRANSLATED +HP:0011473 Variable degree of villous atrophy NOT_TRANSLATED +HP:0011473 Villous degeneration NOT_TRANSLATED +HP:0011478 Complete anophthalmia NOT_TRANSLATED +HP:0011478 Completely missing eyeball NOT_TRANSLATED +HP:0011478 Total anophthalmia NOT_TRANSLATED +HP:0011479 Abnormality of the lacrimal punctum NOT_TRANSLATED +HP:0011480 Abnormally small eyeball on one side NOT_TRANSLATED +HP:0011480 Unilateral nanophthalmos NOT_TRANSLATED +HP:0011481 Abnormality of the lacrimal canaliculus NOT_TRANSLATED +HP:0011481 Abnormality of the lacrimal duct NOT_TRANSLATED +HP:0011482 Abnormality of the lacrimal gland NOT_TRANSLATED +HP:0011483 Anterior synechiae NOT_TRANSLATED +HP:0011483 Cornea-iris adhesion NOT_TRANSLATED +HP:0011483 Iridocorneal adhesions NOT_TRANSLATED +HP:0011483 Iridocorneal synechia NOT_TRANSLATED +HP:0011484 Iridolenticular adhesions NOT_TRANSLATED +HP:0011484 Posterior synechiae NOT_TRANSLATED +HP:0011488 Abnormality of corneal endothelium NOT_TRANSLATED +HP:0011490 Abnormality of Descemet's membrane NOT_TRANSLATED +HP:0011492 Abnormality of corneal stroma NOT_TRANSLATED +HP:0011494 Generalised opacification of the cornea NOT_TRANSLATED +HP:0011495 Abnormality of corneal epithelium NOT_TRANSLATED +HP:0011496 Corneal neovascularisation NOT_TRANSLATED +HP:0011496 Corneal pannus NOT_TRANSLATED +HP:0011496 Corneal vascularization NOT_TRANSLATED +HP:0011496 Limbal neovascularization NOT_TRANSLATED +HP:0011496 New blood vessel formation in cornea NOT_TRANSLATED +HP:0011497 Neovascularization of the iris NOT_TRANSLATED +HP:0011497 New blood vessel formation in iris NOT_TRANSLATED +HP:0011499 Dilated pupil NOT_TRANSLATED +HP:0011500 Multiple pupils NOT_TRANSLATED +HP:0011503 Absent fovea NOT_TRANSLATED +HP:0011504 Chloroquine retinopathy NOT_TRANSLATED +HP:0011505 Cystoid macular oedema NOT_TRANSLATED +HP:0011506 Choroidal neovascular membrane NOT_TRANSLATED +HP:0011512 Hyperpigmented fundi NOT_TRANSLATED +HP:0011512 Hyperpigmented fundus NOT_TRANSLATED +HP:0011516 Rod monochromacy NOT_TRANSLATED +HP:0011516 Rod monochromatism NOT_TRANSLATED +HP:0011520 Deuteranomoly NOT_TRANSLATED +HP:0011520 Green-weak NOT_TRANSLATED +HP:0011521 Green-blind NOT_TRANSLATED +HP:0011522 Red-blind NOT_TRANSLATED +HP:0011525 Eye freckle NOT_TRANSLATED +HP:0011527 Bulging of eye lens NOT_TRANSLATED +HP:0011528 Single isolated CHRPE NOT_TRANSLATED +HP:0011528 Single isolated congenital hypertrophy of retinal pigment epithelium NOT_TRANSLATED +HP:0011529 Multiple bilateral CHRPE NOT_TRANSLATED +HP:0011530 Retinal holes NOT_TRANSLATED +HP:0011531 Hyalitis NOT_TRANSLATED +HP:0011531 Vitreitis NOT_TRANSLATED +HP:0011533 Snowflake retinal degeneration NOT_TRANSLATED +HP:0011535 Abnormal location of heart atrium NOT_TRANSLATED +HP:0011539 Atrial heterotaxy NOT_TRANSLATED +HP:0011539 Atrial situs ambiguus NOT_TRANSLATED +HP:0011540 L-transposition NOT_TRANSLATED +HP:0011540 Ventricular inversion NOT_TRANSLATED +HP:0011545 Abnormal connexion of the cardiac segments NOT_TRANSLATED +HP:0011545 Discordant connection of the cardiac segments NOT_TRANSLATED +HP:0011546 Abnormal atrioventricular connexion NOT_TRANSLATED +HP:0011547 Absent left sided atrioventricular connexion NOT_TRANSLATED +HP:0011548 Absent right sided atrioventricular connexion NOT_TRANSLATED +HP:0011549 Univentricular heart with absent left sided atrioventricular connexion NOT_TRANSLATED +HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connexion NOT_TRANSLATED +HP:0011552 Ambiguous atrioventricular connexion NOT_TRANSLATED +HP:0011553 Discordant atrioventricular connexion NOT_TRANSLATED +HP:0011554 Double inlet atrioventricular connexion NOT_TRANSLATED +HP:0011560 Mitral valve atresia NOT_TRANSLATED +HP:0011563 Abnormal ventriculo-arterial connection NOT_TRANSLATED +HP:0011563 Abnormal ventriculoarterial connexion NOT_TRANSLATED +HP:0011564 Hammock mitral valve NOT_TRANSLATED +HP:0011565 Single atrium NOT_TRANSLATED +HP:0011566 Cor triatriatum dextrum NOT_TRANSLATED +HP:0011572 Membranous supravalvular mitral stenosis NOT_TRANSLATED +HP:0011572 Supravalvular mitral ring NOT_TRANSLATED +HP:0011573 Tricuspid valve hypoplasia NOT_TRANSLATED +HP:0011573 Underdeveloped tricuspid valve NOT_TRANSLATED +HP:0011574 Unopened atrioventricular valve NOT_TRANSLATED +HP:0011575 Unopened tricuspid valve NOT_TRANSLATED +HP:0011576 Intermediate atrioventricular septal defect NOT_TRANSLATED +HP:0011579 Unbalanced atrioventricular septal defect NOT_TRANSLATED +HP:0011589 Bovine arch NOT_TRANSLATED +HP:0011589 Common brachiocephalic trunk NOT_TRANSLATED +HP:0011589 Ovine arch NOT_TRANSLATED +HP:0011593 Kommerell diverticulum NOT_TRANSLATED +HP:0011598 Right aortic arch with aberrant left subclavian artery NOT_TRANSLATED +HP:0011598 Right aortic arch with anomalous left subclavian artery NOT_TRANSLATED +HP:0011605 CCTGA NOT_TRANSLATED +HP:0011605 ccTGA NOT_TRANSLATED +HP:0011608 Persistent truncus arteriosus type II NOT_TRANSLATED +HP:0011608 Type 2 truncus arteriosus NOT_TRANSLATED +HP:0011609 Persistent truncus arteriosus type III NOT_TRANSLATED +HP:0011609 Type 3 truncus arteriosus NOT_TRANSLATED +HP:0011610 Persistent truncus arteriosus type IV NOT_TRANSLATED +HP:0011610 Type 4 truncus arteriosus NOT_TRANSLATED +HP:0011611 Aortic arch obstruction NOT_TRANSLATED +HP:0011611 Atretic transverse aortic arch NOT_TRANSLATED +HP:0011613 Interrupted aortic arch, type b NOT_TRANSLATED +HP:0011615 Abnormality of pulmonary situs NOT_TRANSLATED +HP:0011621 Left ventricular - right atrial communication NOT_TRANSLATED +HP:0011622 Atrioventricular canal type ventricular septal defect NOT_TRANSLATED +HP:0011622 Type 3 ventricular septal defect NOT_TRANSLATED +HP:0011623 Type 4 ventricular septal defect NOT_TRANSLATED +HP:0011623 Ventricular septal defect, muscular NOT_TRANSLATED +HP:0011625 Swiss cheese ventricular septal defect NOT_TRANSLATED +HP:0011626 Pulmonary venolobar syndrome NOT_TRANSLATED +HP:0011626 Scimitar syndrome NOT_TRANSLATED +HP:0011629 Absent pericardium NOT_TRANSLATED +HP:0011629 Congenital absence of the pericardium NOT_TRANSLATED +HP:0011633 Absent lining around of left side of heart NOT_TRANSLATED +HP:0011638 ALCAPA NOT_TRANSLATED +HP:0011638 Anomalous left coronary artery from the pulmonary artery NOT_TRANSLATED +HP:0011638 Bland-Garland-White syndrome NOT_TRANSLATED +HP:0011641 Coronary fistula NOT_TRANSLATED +HP:0011642 Abnormality of the coronary sinus NOT_TRANSLATED +HP:0011644 Diverticulum of the coronary sinus NOT_TRANSLATED +HP:0011645 Aneurysm of the aortic sinus NOT_TRANSLATED +HP:0011645 Aortic sinus aneurysm NOT_TRANSLATED +HP:0011645 Sinus of Valsalva aneurysm NOT_TRANSLATED +HP:0011647 Postductal aortic coarctation NOT_TRANSLATED +HP:0011650 Bilateral ductus botalli NOT_TRANSLATED +HP:0011651 DORV with doubly committed VSD and pulmonary stenosis NOT_TRANSLATED +HP:0011652 DORV with doubly committed VSD NOT_TRANSLATED +HP:0011652 Double outlet right ventricle, doubly committed ventricular septal defect NOT_TRANSLATED +HP:0011653 DORV with non-committed VSD and pulmonary stenosis NOT_TRANSLATED +HP:0011654 DORV with non-committed VSD without pulmonary stenosis NOT_TRANSLATED +HP:0011654 Double outlet right ventricle, noncommitted ventricular septal defect NOT_TRANSLATED +HP:0011655 DORV with subaortic VSD and pulmonary stenosis NOT_TRANSLATED +HP:0011656 DORV with subaortic VSD without pulmonary stenosis NOT_TRANSLATED +HP:0011657 DORV with subpulmonary VSD and pulmonary stenosis NOT_TRANSLATED +HP:0011658 DORV with subpulmonary VSD without pulmonary stenosis NOT_TRANSLATED +HP:0011658 Taussig-Bing anomaly NOT_TRANSLATED +HP:0011659 Tetralogy of Fallot with absent pulmonary valve syndrome NOT_TRANSLATED +HP:0011660 Hemitruncus NOT_TRANSLATED +HP:0011662 Tricuspid valve atresia NOT_TRANSLATED +HP:0011663 Cardiomyopathy, esp. right ventricular NOT_TRANSLATED +HP:0011663 Cardiomyopathy, right ventricular NOT_TRANSLATED +HP:0011664 Left ventricular non-compaction cardiomyopathy NOT_TRANSLATED +HP:0011665 Broken-heart syndrome NOT_TRANSLATED +HP:0011675 Abnormal heart rate NOT_TRANSLATED +HP:0011675 Arrhythmias NOT_TRANSLATED +HP:0011675 Cardiac arrhythmia NOT_TRANSLATED +HP:0011675 Cardiac arrhythmias NOT_TRANSLATED +HP:0011675 Cardiac rhythm disturbances NOT_TRANSLATED +HP:0011675 Heart rhythm disorders NOT_TRANSLATED +HP:0011675 Irregular heart beat NOT_TRANSLATED +HP:0011675 Irregular heartbeat NOT_TRANSLATED +HP:0011681 Conal ventricular septal defect NOT_TRANSLATED +HP:0011681 Doubly committed ventricular septal defect NOT_TRANSLATED +HP:0011681 Infundibular ventricular septal defect NOT_TRANSLATED +HP:0011681 Supracristal ventricular septal defect NOT_TRANSLATED +HP:0011681 Type 1 ventricular septal defect NOT_TRANSLATED +HP:0011682 Conoventricular ventricular septal defect NOT_TRANSLATED +HP:0011682 Membranous ventricular septal defect NOT_TRANSLATED +HP:0011682 Paramembranous ventricular septal defect NOT_TRANSLATED +HP:0011682 Perimembraneous ventricular septal defect NOT_TRANSLATED +HP:0011682 Type 2 ventricular septal defect NOT_TRANSLATED +HP:0011682 Ventricular septal defect, perimembranous NOT_TRANSLATED +HP:0011686 Anomalous coronary artery course NOT_TRANSLATED +HP:0011687 Atrioventricular nodal tachycardia NOT_TRANSLATED +HP:0011688 Atrioventricular re-entry tachycardia NOT_TRANSLATED +HP:0011688 Supraventricular tachycardia with an accessory connexion mediated pathway NOT_TRANSLATED +HP:0011689 Supraventricular tachycardia with a concealed accessory connexion NOT_TRANSLATED +HP:0011695 Cerebellar haemorrhage NOT_TRANSLATED +HP:0011701 Chaotic atrial tachycardia NOT_TRANSLATED +HP:0011701 Ectopic atrial tachycardia NOT_TRANSLATED +HP:0011703 Sinus tach NOT_TRANSLATED +HP:0011703 Sinus tachy NOT_TRANSLATED +HP:0011704 Sinoatrial node disease NOT_TRANSLATED +HP:0011707 Mobitz type 1 atrioventricular block NOT_TRANSLATED +HP:0011707 Wenckebach block NOT_TRANSLATED +HP:0011708 Mobitz type 2 atrioventricular block NOT_TRANSLATED +HP:0011710 Bundle-branch block NOT_TRANSLATED +HP:0011711 Left anterior hemiblock NOT_TRANSLATED +HP:0011712 Right bundle-branch block NOT_TRANSLATED +HP:0011717 AV nodal reentry tachycardia NOT_TRANSLATED +HP:0011718 Abnormality of lung veins NOT_TRANSLATED +HP:0011719 Supracardiac total anomalous pulmonary venous connexion NOT_TRANSLATED +HP:0011719 Total anomalous pulmonary venous connection, supracardiac NOT_TRANSLATED +HP:0011719 Type 1 total anomalous pulmonary venous connection NOT_TRANSLATED +HP:0011720 Cardiac total anomalous pulmonary venous connexion NOT_TRANSLATED +HP:0011720 Total anomalous pulmonary venous connection, intracardiac NOT_TRANSLATED +HP:0011720 Type 2 total anomalous pulmonary venous connection NOT_TRANSLATED +HP:0011721 Infracardiac total anomalous pulmonary venous connexion NOT_TRANSLATED +HP:0011721 Type 3 total anomalous pulmonary venous connection NOT_TRANSLATED +HP:0011722 Mixed total anomalous pulmonary venous connexion NOT_TRANSLATED +HP:0011722 Total anomalous pulmonary venous connection, mixed NOT_TRANSLATED +HP:0011722 Type 4 total anomalous pulmonary venous connection NOT_TRANSLATED +HP:0011726 Persistent foetal circulation NOT_TRANSLATED +HP:0011727 Fibularis muscle weakness NOT_TRANSLATED +HP:0011730 Abnormality of central sensory function NOT_TRANSLATED +HP:0011734 Secondary adrenal insufficiency NOT_TRANSLATED +HP:0011735 ACTH deficient adrenal insufficiency NOT_TRANSLATED +HP:0011737 CRH deficient adrenal insufficiency NOT_TRANSLATED +HP:0011737 Tertiary adrenal insufficiency NOT_TRANSLATED +HP:0011738 CRHR defect NOT_TRANSLATED +HP:0011738 Corticotropin-releasing hormone receptor (CRHR) resistance NOT_TRANSLATED +HP:0011739 Familial primary hyperaldosteronism type 1 NOT_TRANSLATED +HP:0011739 Glucocorticoid-remediable familial primary aldosteronism NOT_TRANSLATED +HP:0011740 Familial primary hyperaldosteronism type 2 NOT_TRANSLATED +HP:0011741 Hyperreninemic hyperaldosteronism NOT_TRANSLATED +HP:0011742 Abnormal adrenal gland position NOT_TRANSLATED +HP:0011744 ACTH-dependent hypercortisolemia NOT_TRANSLATED +HP:0011745 Non-secretory adrenal adenoma NOT_TRANSLATED +HP:0011746 Secretory adrenal adenoma NOT_TRANSLATED +HP:0011747 Pituitary disease NOT_TRANSLATED +HP:0011748 ACTH deficiency NOT_TRANSLATED +HP:0011748 Corticotropin deficiency NOT_TRANSLATED +HP:0011749 ACTH excess NOT_TRANSLATED +HP:0011750 Neoplasm of the adenohypophysis NOT_TRANSLATED +HP:0011750 Neoplasm of the pars anterior NOT_TRANSLATED +HP:0011751 Abnormality of the neurohypophysis NOT_TRANSLATED +HP:0011752 Neoplasm of the neurohypophysis NOT_TRANSLATED +HP:0011753 Neurohypophysis dysplasia NOT_TRANSLATED +HP:0011753 Posterior pituitary dysplasia NOT_TRANSLATED +HP:0011755 Ectopic neurohypophysis NOT_TRANSLATED +HP:0011756 Neurohypophysis agenesis NOT_TRANSLATED +HP:0011757 Neurohypophysis hypoplasia NOT_TRANSLATED +HP:0011759 Pituitary gonadotropinoma NOT_TRANSLATED +HP:0011760 Pituitary somatotropinoma NOT_TRANSLATED +HP:0011761 Clinically silent pituitary adenoma NOT_TRANSLATED +HP:0011761 Hormonally silent pituitary adenoma NOT_TRANSLATED +HP:0011761 Non-functional pituitary adenoma NOT_TRANSLATED +HP:0011761 Silent pituitary adenoma NOT_TRANSLATED +HP:0011762 Pituitary thyrotropinoma NOT_TRANSLATED +HP:0011767 Parathyroid dysfunction NOT_TRANSLATED +HP:0011767 Parathyroid issue NOT_TRANSLATED +HP:0011772 Abnormal shape of thyroid gland NOT_TRANSLATED +HP:0011772 Abnormality of thyroid morphology NOT_TRANSLATED +HP:0011773 Uninodular goitre NOT_TRANSLATED +HP:0011784 Thyrotoxicosis with diffuse goitre NOT_TRANSLATED +HP:0011785 Thyrotoxicosis with toxic multinodular goitre NOT_TRANSLATED +HP:0011788 Increased circulating free triiodothyronine NOT_TRANSLATED +HP:0011788 Increased serum fT3 NOT_TRANSLATED +HP:0011788 Increased serum free T3 NOT_TRANSLATED +HP:0011788 Increased serum free triiodothyronine NOT_TRANSLATED +HP:0011789 TSHR defect NOT_TRANSLATED +HP:0011789 Thyroid-stimulating hormone receptor defect NOT_TRANSLATED +HP:0011790 Activating TSHR defect NOT_TRANSLATED +HP:0011791 Inactivating TSHR defect NOT_TRANSLATED +HP:0011799 Anomaly of facial soft tissue NOT_TRANSLATED +HP:0011799 Deformity of facial soft tissue NOT_TRANSLATED +HP:0011799 Malformation of facial soft tissue NOT_TRANSLATED +HP:0011800 Decreased projection of midface NOT_TRANSLATED +HP:0011800 Decreased size of midface NOT_TRANSLATED +HP:0011800 Flat midface NOT_TRANSLATED +HP:0011800 Hypoplasia of midface NOT_TRANSLATED +HP:0011800 Hypotrophic midface NOT_TRANSLATED +HP:0011800 Midface deficiency NOT_TRANSLATED +HP:0011800 Midface hypoplasia NOT_TRANSLATED +HP:0011800 Midface, flat NOT_TRANSLATED +HP:0011800 Retrusive midface NOT_TRANSLATED +HP:0011800 Small midface NOT_TRANSLATED +HP:0011800 Underdevelopment of midface NOT_TRANSLATED +HP:0011801 Hyperplasia of parotid gland NOT_TRANSLATED +HP:0011801 Hypertrophy of parotid gland NOT_TRANSLATED +HP:0011801 Increased size of parotid gland NOT_TRANSLATED +HP:0011802 Lingual hamartoma NOT_TRANSLATED +HP:0011803 Bifid nasal bridge NOT_TRANSLATED +HP:0011803 Cleft nasal bridge NOT_TRANSLATED +HP:0011803 Cleft nose NOT_TRANSLATED +HP:0011803 Indentation or clefting of the nose NOT_TRANSLATED +HP:0011803 Indented bridge of nose NOT_TRANSLATED +HP:0011804 Abnormality of muscle physiology NOT_TRANSLATED +HP:0011804 Issue with muscle function NOT_TRANSLATED +HP:0011805 Abnormal muscle morphology NOT_TRANSLATED +HP:0011805 Abnormality of muscle morphology NOT_TRANSLATED +HP:0011805 Abnormally shaped muscle NOT_TRANSLATED +HP:0011805 Issue with muscle structure NOT_TRANSLATED +HP:0011807 Type 1 muscle fibre atrophy NOT_TRANSLATED +HP:0011808 Decreased knee jerk reflex NOT_TRANSLATED +HP:0011808 Decreased patellar reflexes NOT_TRANSLATED +HP:0011811 Impaired topognosis NOT_TRANSLATED +HP:0011811 Impaired touch localisation NOT_TRANSLATED +HP:0011818 Naso-frontal encephalocele NOT_TRANSLATED +HP:0011819 Partial thickness cleft soft palate NOT_TRANSLATED +HP:0011819 Submucous cleft velum NOT_TRANSLATED +HP:0011821 Abnormality of facial bones NOT_TRANSLATED +HP:0011821 Abnormality of facial skeleton NOT_TRANSLATED +HP:0011821 Anomaly of facial bones NOT_TRANSLATED +HP:0011821 Anomaly of facial skeleton NOT_TRANSLATED +HP:0011821 Deformity of facial skeleton NOT_TRANSLATED +HP:0011821 Deformity of the facial bones NOT_TRANSLATED +HP:0011821 Malformation of facial bones NOT_TRANSLATED +HP:0011821 Malformation of facial skeleton NOT_TRANSLATED +HP:0011822 Increased width of chin NOT_TRANSLATED +HP:0011822 Increased width of menton region NOT_TRANSLATED +HP:0011822 Wide chin NOT_TRANSLATED +HP:0011823 Chin with horizontal furrow NOT_TRANSLATED +HP:0011823 Chin with horizontal groove NOT_TRANSLATED +HP:0011823 Chin with horizontal sulcus NOT_TRANSLATED +HP:0011823 Horizontal chin skin cleft NOT_TRANSLATED +HP:0011823 Horizontal menton crease NOT_TRANSLATED +HP:0011824 Chin, H-Shaped Crease NOT_TRANSLATED +HP:0011824 Chin, H-shaped groove NOT_TRANSLATED +HP:0011824 H-shaped dimple of the chin NOT_TRANSLATED +HP:0011825 Philtrum, Tented NOT_TRANSLATED +HP:0011826 Philtrum with central raphe NOT_TRANSLATED +HP:0011826 Philtrum with midline ridge NOT_TRANSLATED +HP:0011826 Philtrum, midline raphe NOT_TRANSLATED +HP:0011827 Asymmetric philtral columns NOT_TRANSLATED +HP:0011827 Asymmetric philtral ridges NOT_TRANSLATED +HP:0011827 Malaligned philtral columns NOT_TRANSLATED +HP:0011827 Philtral Ridges, Malaligned NOT_TRANSLATED +HP:0011828 Central sinus of philtrum NOT_TRANSLATED +HP:0011828 Philtrum, Midline Sinus NOT_TRANSLATED +HP:0011829 Decreased breadth of philtrum NOT_TRANSLATED +HP:0011829 Decreased horizontal dimension of philtrum NOT_TRANSLATED +HP:0011829 Decreased transverse dimension of philtrum NOT_TRANSLATED +HP:0011829 Decreased width of philtrum NOT_TRANSLATED +HP:0011829 Philtrum, Narrow NOT_TRANSLATED +HP:0011829 Thin philtrum NOT_TRANSLATED +HP:0011830 Abnormality of lining of mouth NOT_TRANSLATED +HP:0011830 Abnormality of mucosa of mouth NOT_TRANSLATED +HP:0011830 Abnormality of oral mucosa NOT_TRANSLATED +HP:0011830 Abnormality of oral mucous membrane NOT_TRANSLATED +HP:0011831 Asymmetry of nasal tip NOT_TRANSLATED +HP:0011831 Asymmetry of tip of nose NOT_TRANSLATED +HP:0011831 Crooked nasal tip NOT_TRANSLATED +HP:0011831 Crooked tip of nose NOT_TRANSLATED +HP:0011831 Deviated tip of nose NOT_TRANSLATED +HP:0011831 Distortion of the nasal tip NOT_TRANSLATED +HP:0011831 Nasal tip, deviated NOT_TRANSLATED +HP:0011832 Narrow tip of nose NOT_TRANSLATED +HP:0011832 Nasal tip, narrow NOT_TRANSLATED +HP:0011832 Nasal tip, pinched NOT_TRANSLATED +HP:0011832 Pinched nasal tip NOT_TRANSLATED +HP:0011832 Pinched tip of nose NOT_TRANSLATED +HP:0011832 Thin nasal tip NOT_TRANSLATED +HP:0011832 Thin tip of nose NOT_TRANSLATED +HP:0011833 Drooping nasal tip NOT_TRANSLATED +HP:0011833 Hooked tip of nose NOT_TRANSLATED +HP:0011833 Low hanging nasal tip NOT_TRANSLATED +HP:0011833 Nasal tip, overhanging NOT_TRANSLATED +HP:0011835 Absent scaphoid bone NOT_TRANSLATED +HP:0011835 Missing scaphoid bone NOT_TRANSLATED +HP:0011839 Abnormal number of T cells NOT_TRANSLATED +HP:0011839 Abnormality of T cell number NOT_TRANSLATED +HP:0011842 Abnormality of skeletal morphology NOT_TRANSLATED +HP:0011842 Abnormally shaped skeletal NOT_TRANSLATED +HP:0011843 Abnormality of musculoskeletal physiology NOT_TRANSLATED +HP:0011845 Short 2nd long bone of foot NOT_TRANSLATED +HP:0011847 Giant cell tumour of bone NOT_TRANSLATED +HP:0011849 Abnormal bone maturation NOT_TRANSLATED +HP:0011854 Hematoperitoneum NOT_TRANSLATED +HP:0011855 Pharyngeal oedema NOT_TRANSLATED +HP:0011855 Swollen throat NOT_TRANSLATED +HP:0011855 Throat swelling NOT_TRANSLATED +HP:0011858 Low factor IX activity NOT_TRANSLATED +HP:0011860 Dappled metaphyseal sclerosis NOT_TRANSLATED +HP:0011861 Bilateral trilobed lungs NOT_TRANSLATED +HP:0011863 Abnormal maturation of breastbone NOT_TRANSLATED +HP:0011863 Sternal ossification center abnormalities NOT_TRANSLATED +HP:0011863 Sternal ossification centre abnormalities NOT_TRANSLATED +HP:0011867 Abnormality of the wing of the ilium NOT_TRANSLATED +HP:0011875 Abnormal shape of platelets NOT_TRANSLATED +HP:0011877 Large platelets NOT_TRANSLATED +HP:0011885 Bleeding from the eye NOT_TRANSLATED +HP:0011885 Haemorrhage of the eye NOT_TRANSLATED +HP:0011887 Choroid haemorrhage NOT_TRANSLATED +HP:0011887 Choroidal haemorrhage NOT_TRANSLATED +HP:0011887 Choroidal hemorrhage NOT_TRANSLATED +HP:0011889 Easy bleeding NOT_TRANSLATED +HP:0011891 Bleeding post-delivery NOT_TRANSLATED +HP:0011891 Post-partum haemorrhage NOT_TRANSLATED +HP:0011893 Abnormal white blood cell count NOT_TRANSLATED +HP:0011895 Anaemia due to reduced life span of red cells NOT_TRANSLATED +HP:0011896 Subconjunctival haemorrhage NOT_TRANSLATED +HP:0011897 Increased blood neutrophil counts NOT_TRANSLATED +HP:0011900 Low fibrinogen activity NOT_TRANSLATED +HP:0011900 Low fibrinogen level NOT_TRANSLATED +HP:0011901 Dysfibrinogenaemia NOT_TRANSLATED +HP:0011902 Abnormal Hb NOT_TRANSLATED +HP:0011902 Abnormal haemoglobin NOT_TRANSLATED +HP:0011903 Haemoglobin H NOT_TRANSLATED +HP:0011903 HbH haemoglobin NOT_TRANSLATED +HP:0011903 Hemoglobin H NOT_TRANSLATED +HP:0011904 Increased haemoglobin F NOT_TRANSLATED +HP:0011904 Increased hemoglobin F NOT_TRANSLATED +HP:0011904 Persistence of HbF NOT_TRANSLATED +HP:0011904 Persistence of haemoglobin F NOT_TRANSLATED +HP:0011905 Reduced HbA NOT_TRANSLATED +HP:0011905 Reduced haemoglobin A NOT_TRANSLATED +HP:0011909 Flattened head of long bone of hand NOT_TRANSLATED +HP:0011910 Shortening of all finger bones NOT_TRANSLATED +HP:0011911 Abnormality of metacarpophalangeal joint NOT_TRANSLATED +HP:0011911 Abnormality of the knuckle NOT_TRANSLATED +HP:0011917 Short fifth toe NOT_TRANSLATED +HP:0011917 Short little toe NOT_TRANSLATED +HP:0011917 Short pinkie toe NOT_TRANSLATED +HP:0011917 Short pinky toe NOT_TRANSLATED +HP:0011918 4th toe clinodactyly NOT_TRANSLATED +HP:0011918 Curvature of 4th toe NOT_TRANSLATED +HP:0011919 Pyothorax NOT_TRANSLATED +HP:0011923 Respiratory complex I deficiency NOT_TRANSLATED +HP:0011924 Respiratory complex III deficiency NOT_TRANSLATED +HP:0011925 Respiratory complex deficiency, ATPase deficiency NOT_TRANSLATED +HP:0011926 Proximal placement of big toe NOT_TRANSLATED +HP:0011926 Proximally placed halluces NOT_TRANSLATED +HP:0011927 Very short digits NOT_TRANSLATED +HP:0011928 Short innermost toe bone NOT_TRANSLATED +HP:0011930 Hyperelastic chest skin NOT_TRANSLATED +HP:0011930 Stretchable chest skin NOT_TRANSLATED +HP:0011931 Abnormality of the cerebellar peduncle NOT_TRANSLATED +HP:0011932 Abnormality of the superior cerebellar peduncle NOT_TRANSLATED +HP:0011933 Elongated superior cerebellar peduncles NOT_TRANSLATED +HP:0011933 Long cerebellar peduncle NOT_TRANSLATED +HP:0011933 Long cerebellar peduncles NOT_TRANSLATED +HP:0011934 Mesenteric artery aneurysm NOT_TRANSLATED +HP:0011937 Small fifth toenail NOT_TRANSLATED +HP:0011937 Underdeveloped fifth toenail NOT_TRANSLATED +HP:0011940 Anterior wedging of the 12th thoracic vertebra NOT_TRANSLATED +HP:0011940 Wedge-shaped 12th thoracic vertebra NOT_TRANSLATED +HP:0011945 BOOP NOT_TRANSLATED +HP:0011945 Bronchiolitis obliterans organising pneumonia NOT_TRANSLATED +HP:0011945 Cryptogenic organising pneumonia NOT_TRANSLATED +HP:0011945 Cryptogenic organizing pneumonia NOT_TRANSLATED +HP:0011946 Constrictive bronchiolitis NOT_TRANSLATED +HP:0011946 Obliterative bronchiolitis NOT_TRANSLATED +HP:0011947 Respiratory infection NOT_TRANSLATED +HP:0011947 Respiratory infections NOT_TRANSLATED +HP:0011948 Acute respiratory tract infection NOT_TRANSLATED +HP:0011954 Nodular transformation of liver NOT_TRANSLATED +HP:0011954 Noncirrhotic nodulation NOT_TRANSLATED +HP:0011954 Partial nodular transformation of liver NOT_TRANSLATED +HP:0011957 Abnormal pec muscles NOT_TRANSLATED +HP:0011958 Retinal tear NOT_TRANSLATED +HP:0011958 Torn retina NOT_TRANSLATED +HP:0011959 Small pec muscle on one side NOT_TRANSLATED +HP:0011959 Underdeveloped pec muscle on one side NOT_TRANSLATED +HP:0011961 Testicular azoospermia NOT_TRANSLATED +HP:0011967 Copper deficiency NOT_TRANSLATED +HP:0011967 Hypocupremia NOT_TRANSLATED +HP:0011967 Reduced serum copper NOT_TRANSLATED +HP:0011968 Feeding problems NOT_TRANSLATED +HP:0011968 Poor feeding NOT_TRANSLATED +HP:0011969 Elevated LH level NOT_TRANSLATED +HP:0011969 Elevated luteinizing hormone NOT_TRANSLATED +HP:0011969 Increased circulating luteinizing hormone level NOT_TRANSLATED +HP:0011971 Dermatographism NOT_TRANSLATED +HP:0011971 Dermographism NOT_TRANSLATED +HP:0011971 Skin writing NOT_TRANSLATED +HP:0011972 Decreased CSF glucose NOT_TRANSLATED +HP:0011972 Low glucose levels in cerebral spinal fluid NOT_TRANSLATED +HP:0011977 Increased urinary homovanillic acid NOT_TRANSLATED +HP:0011978 Increased urinary vanillylmandelic acid NOT_TRANSLATED +HP:0011984 Gallbladder atresia NOT_TRANSLATED +HP:0011985 Acholia NOT_TRANSLATED +HP:0011985 Clay colored stools NOT_TRANSLATED +HP:0011985 Clay coloured stools NOT_TRANSLATED +HP:0011985 Discolored, acholic stools NOT_TRANSLATED +HP:0011986 Ectopic bone formation NOT_TRANSLATED +HP:0011986 Heterotopic ossification NOT_TRANSLATED +HP:0011987 Calcification of muscle tissue NOT_TRANSLATED +HP:0011991 Abnormal neutrophil cell number NOT_TRANSLATED +HP:0011994 Abnormal interatrial septum morphology NOT_TRANSLATED +HP:0011994 Abnormality of the atrial septum NOT_TRANSLATED +HP:0011995 Atrial septal aneurysm NOT_TRANSLATED +HP:0011996 Elevated factor V activity NOT_TRANSLATED +HP:0011996 Plasma factor V elevated NOT_TRANSLATED +HP:0012000 EEG with generalised spikes NOT_TRANSLATED +HP:0012001 EEG with generalised polyspikes NOT_TRANSLATED +HP:0012002 Experiential aura NOT_TRANSLATED +HP:0012002 Experiential auras NOT_TRANSLATED +HP:0012003 Affective aura NOT_TRANSLATED +HP:0012003 Affective auras NOT_TRANSLATED +HP:0012003 Emotional aura NOT_TRANSLATED +HP:0012004 Mnemonic aura NOT_TRANSLATED +HP:0012004 Mnemonic auras NOT_TRANSLATED +HP:0012005 Deja vu NOT_TRANSLATED +HP:0012006 Jamais vu NOT_TRANSLATED +HP:0012007 Hallucinatory aura NOT_TRANSLATED +HP:0012007 Hallucinatory auras NOT_TRANSLATED +HP:0012008 Illusory aura NOT_TRANSLATED +HP:0012008 Illusory auras NOT_TRANSLATED +HP:0012019 Dislocated lens NOT_TRANSLATED +HP:0012019 Dislocated lenses NOT_TRANSLATED +HP:0012020 Right-sided aortic arch NOT_TRANSLATED +HP:0012023 Increased urinary galactose level NOT_TRANSLATED +HP:0012024 Galactosemia NOT_TRANSLATED +HP:0012026 High blood ornithine levels NOT_TRANSLATED +HP:0012027 Laryngeal oedema NOT_TRANSLATED +HP:0012028 Hepatic adenoma NOT_TRANSLATED +HP:0012028 Liver cell adenoma NOT_TRANSLATED +HP:0012029 Abnormality of urine hormone level NOT_TRANSLATED +HP:0012030 High urine cortisol level NOT_TRANSLATED +HP:0012031 Lipomatous tumour NOT_TRANSLATED +HP:0012032 Fatty lump NOT_TRANSLATED +HP:0012032 Noncancerous fatty lump NOT_TRANSLATED +HP:0012037 Wasting of pec muscles NOT_TRANSLATED +HP:0012038 Corneal endothelial guttata NOT_TRANSLATED +HP:0012040 Corneal stromal oedema NOT_TRANSLATED +HP:0012043 Nystagmus, continuous pendular NOT_TRANSLATED +HP:0012043 Nystagmus, pendular NOT_TRANSLATED +HP:0012047 Day blindness NOT_TRANSLATED +HP:0012048 Cranial dystonia NOT_TRANSLATED +HP:0012049 Spasmodic dysphonia NOT_TRANSLATED +HP:0012050 Extreme generalised oedema NOT_TRANSLATED +HP:0012050 Extreme generalized edema NOT_TRANSLATED +HP:0012051 Low blood sugar after a meal NOT_TRANSLATED +HP:0012051 Postprandial hypoglycemia NOT_TRANSLATED +HP:0012052 Low serum 1,25-dihydroxycholecalciferol NOT_TRANSLATED +HP:0012052 Low serum 1,25-dihydroxyvitamin D3 NOT_TRANSLATED +HP:0012053 Decreased 25-hydroxyvitamin D3 NOT_TRANSLATED +HP:0012053 Low serum 25-hydroxycholecalciferol NOT_TRANSLATED +HP:0012053 Low serum calcidiol NOT_TRANSLATED +HP:0012053 Low serum calcifediol NOT_TRANSLATED +HP:0012061 Increased urinary sialyloligosaccharides NOT_TRANSLATED +HP:0012062 Bone cysts NOT_TRANSLATED +HP:0012067 High urine glycopeptide levels NOT_TRANSLATED +HP:0012068 High urine aspartylglucosamine levels NOT_TRANSLATED +HP:0012069 Keratan sulphate excretion in urine NOT_TRANSLATED +HP:0012070 Chondroitin sulphate excretion in urine NOT_TRANSLATED +HP:0012071 Abnormal acetylcarnitine profile NOT_TRANSLATED +HP:0012071 Abnormal circulating esterified carnitine concentration NOT_TRANSLATED +HP:0012072 Acidic urine NOT_TRANSLATED +HP:0012074 Adie pupil NOT_TRANSLATED +HP:0012074 Adie's tonic pupil NOT_TRANSLATED +HP:0012076 BPD NOT_TRANSLATED +HP:0012084 Abnormality of skeletal muscle fibre size NOT_TRANSLATED +HP:0012085 High urine neutrophil count NOT_TRANSLATED +HP:0012085 Leukocyturia NOT_TRANSLATED +HP:0012086 Abnormal urinary colour NOT_TRANSLATED +HP:0012086 Abnormal urine color NOT_TRANSLATED +HP:0012086 Abnormal urine colour NOT_TRANSLATED +HP:0012088 Abnormal urinary odour NOT_TRANSLATED +HP:0012088 Abnormal urine smell NOT_TRANSLATED +HP:0012089 Inflammation of artery NOT_TRANSLATED +HP:0012090 Abnormality of pancreas morphology NOT_TRANSLATED +HP:0012090 Abnormally shaped pancreas NOT_TRANSLATED +HP:0012092 Abnormal exocrine pancreatic function NOT_TRANSLATED +HP:0012095 Multiple joint dislocations NOT_TRANSLATED +HP:0012098 Edema of dorsum of feet NOT_TRANSLATED +HP:0012098 Oedema of dorsum of feet NOT_TRANSLATED +HP:0012098 Oedema of the dorsum of feet NOT_TRANSLATED +HP:0012099 Catecholamine levels abnormal NOT_TRANSLATED +HP:0012100 Abnormal blood creatinine level NOT_TRANSLATED +HP:0012100 Abnormal circulating creatinine level NOT_TRANSLATED +HP:0012100 Creatinine levels abnormal NOT_TRANSLATED +HP:0012101 Low blood creatinine level NOT_TRANSLATED +HP:0012101 Reduced creatinine levels NOT_TRANSLATED +HP:0012103 Mitochondrial abnormalities NOT_TRANSLATED +HP:0012107 Thick fibula NOT_TRANSLATED +HP:0012107 Thick fibulae NOT_TRANSLATED +HP:0012107 Wide calf bone NOT_TRANSLATED +HP:0012107 Wide fibula NOT_TRANSLATED +HP:0012108 Primary open angle glaucoma NOT_TRANSLATED +HP:0012109 Primary angle closure glaucoma NOT_TRANSLATED +HP:0012110 Pontine hypoplasia NOT_TRANSLATED +HP:0012112 Abnormality of circulating corticosterone level NOT_TRANSLATED +HP:0012113 Abnormality of creatine metabolism NOT_TRANSLATED +HP:0012113 Creatine metabolism abnormal NOT_TRANSLATED +HP:0012115 Liver inflammation NOT_TRANSLATED +HP:0012116 Abnormal albumin level NOT_TRANSLATED +HP:0012117 High albumin NOT_TRANSLATED +HP:0012117 High blood albumin levels NOT_TRANSLATED +HP:0012117 Hyperalbuminaemia NOT_TRANSLATED +HP:0012118 Cancer of the larynx NOT_TRANSLATED +HP:0012118 Laryngeal cancer NOT_TRANSLATED +HP:0012120 High blood methylmalonic acid levels NOT_TRANSLATED +HP:0012120 Methymalonicaciduria NOT_TRANSLATED +HP:0012123 Choroiditis NOT_TRANSLATED +HP:0012125 Prostatic cancer NOT_TRANSLATED +HP:0012126 Gastric cancer NOT_TRANSLATED +HP:0012127 High urine uracil levels NOT_TRANSLATED +HP:0012130 Abnormality of cells of the erythroid lineage NOT_TRANSLATED +HP:0012132 Bone marrow biopsy shows erythroid hyperplasia NOT_TRANSLATED +HP:0012132 Bone marrow smear shows erythroid hyperplasia NOT_TRANSLATED +HP:0012133 Erythroblastopenia NOT_TRANSLATED +HP:0012133 Erythroid hypoplasia in the bone marrow NOT_TRANSLATED +HP:0012135 Abnormality of cells of the granulocytic lineage NOT_TRANSLATED +HP:0012142 Squamous cell carcinoma of the pancreas NOT_TRANSLATED +HP:0012143 Abnormality of cells of the megakaryocyte lineage NOT_TRANSLATED +HP:0012147 Decreased von Willebrand factor NOT_TRANSLATED +HP:0012152 Retinoschisis involving the fovea NOT_TRANSLATED +HP:0012153 Decreased circulating Tg levels NOT_TRANSLATED +HP:0012153 Decreased plasma Tg levels NOT_TRANSLATED +HP:0012153 Low blood triglyceride levels NOT_TRANSLATED +HP:0012155 Corneal hypaesthesia NOT_TRANSLATED +HP:0012155 Corneal hypesthesia NOT_TRANSLATED +HP:0012155 Decreased corneal sensitivity NOT_TRANSLATED +HP:0012155 Reduced corneal sensation NOT_TRANSLATED +HP:0012163 Carotid artery aneurysm NOT_TRANSLATED +HP:0012166 Compulsive skin picking NOT_TRANSLATED +HP:0012166 Dermatillomania NOT_TRANSLATED +HP:0012167 Trichotillomania NOT_TRANSLATED +HP:0012170 Onychophagia NOT_TRANSLATED +HP:0012170 Onychophagy NOT_TRANSLATED +HP:0012173 Postural tachycardia NOT_TRANSLATED +HP:0012174 Glioblastoma NOT_TRANSLATED +HP:0012175 Activated protein C resistance NOT_TRANSLATED +HP:0012176 Abnormal NK cells NOT_TRANSLATED +HP:0012176 Abnormality of natural killer cells NOT_TRANSLATED +HP:0012179 Abnormal craniofacial muscle tone NOT_TRANSLATED +HP:0012179 Abnormal craniofacial posture NOT_TRANSLATED +HP:0012179 Abnormal facial muscle tone NOT_TRANSLATED +HP:0012179 Distorted craniofacial posture NOT_TRANSLATED +HP:0012179 Facial Dystonia NOT_TRANSLATED +HP:0012180 Arterial cystic medial necrosis NOT_TRANSLATED +HP:0012184 High blood HDL level NOT_TRANSLATED +HP:0012184 Hyperalphalipoproteinemia NOT_TRANSLATED +HP:0012184 Increased circulating high-density lipoprotein levels NOT_TRANSLATED +HP:0012185 Carpal tunnel syndrome NOT_TRANSLATED +HP:0012189 Hodgkin disease NOT_TRANSLATED +HP:0012189 Hodgkin's lymphoma NOT_TRANSLATED +HP:0012190 T cell lymphoma NOT_TRANSLATED +HP:0012191 B cell lymphoma NOT_TRANSLATED +HP:0012195 Irregular respiratory rhythm NOT_TRANSLATED +HP:0012196 Cheyne-Stokes breathing NOT_TRANSLATED +HP:0012196 Periodic respiration NOT_TRANSLATED +HP:0012197 Pancreatic insulinoma NOT_TRANSLATED +HP:0012207 Asthenospermia NOT_TRANSLATED +HP:0012208 Nonmotile sperm NOT_TRANSLATED +HP:0012209 Juvenile myelomonocytic leukaemia NOT_TRANSLATED +HP:0012210 Abnormal kidney morphology NOT_TRANSLATED +HP:0012210 Abnormally shaped kidney NOT_TRANSLATED +HP:0012210 Kidney malformation NOT_TRANSLATED +HP:0012210 Kidney structure issue NOT_TRANSLATED +HP:0012210 Renal malformation NOT_TRANSLATED +HP:0012210 Structural anomalies of the renal tract NOT_TRANSLATED +HP:0012210 Structural kidney abnormalities NOT_TRANSLATED +HP:0012210 Structural renal anomalies NOT_TRANSLATED +HP:0012211 Abnormal kidney function NOT_TRANSLATED +HP:0012211 Abnormal renal function NOT_TRANSLATED +HP:0012211 Abnormality of renal physiology NOT_TRANSLATED +HP:0012211 Kidney function issue NOT_TRANSLATED +HP:0012211 Renal functional abnormality NOT_TRANSLATED +HP:0012212 Abnormal GFR NOT_TRANSLATED +HP:0012213 Decreased GFR NOT_TRANSLATED +HP:0012213 Impaired renal creatinine clearance NOT_TRANSLATED +HP:0012213 Reduced creatinine clearance NOT_TRANSLATED +HP:0012214 Increased GFR NOT_TRANSLATED +HP:0012216 Suprascapular nerve entrapment NOT_TRANSLATED +HP:0012221 Pretibial epidermolysis bullosa NOT_TRANSLATED +HP:0012223 Ruptured spleen NOT_TRANSLATED +HP:0012225 Decreased number of baby teeth NOT_TRANSLATED +HP:0012225 Decreased number of deciduous teeth NOT_TRANSLATED +HP:0012225 Decreased number of milk teeth NOT_TRANSLATED +HP:0012225 Decreased number of primary teeth NOT_TRANSLATED +HP:0012225 Failure of development of some deciduous teeth NOT_TRANSLATED +HP:0012225 Failure of development of some primary teeth NOT_TRANSLATED +HP:0012225 Fewer baby teeth than normal NOT_TRANSLATED +HP:0012225 Fewer deciduous teeth than normal NOT_TRANSLATED +HP:0012225 Fewer primary teeth than normal NOT_TRANSLATED +HP:0012225 Missing some baby teeth NOT_TRANSLATED +HP:0012225 Missing some milk teeth NOT_TRANSLATED +HP:0012225 Missing some primary teeth NOT_TRANSLATED +HP:0012225 Partial anodontia of deciduous teeth NOT_TRANSLATED +HP:0012225 Partial anodontia of primary teeth NOT_TRANSLATED +HP:0012229 Cerebrospinal fluid pleocytosis NOT_TRANSLATED +HP:0012229 Increased leukocyte count in CSF NOT_TRANSLATED +HP:0012231 Serous retinal detachment NOT_TRANSLATED +HP:0012233 IM hematoma NOT_TRANSLATED +HP:0012233 Intramuscular haematoma NOT_TRANSLATED +HP:0012233 Intramuscular haemorrhage NOT_TRANSLATED +HP:0012233 Intramuscular hematomas NOT_TRANSLATED +HP:0012233 Intramuscular hemorrhage NOT_TRANSLATED +HP:0012236 Elevated sweat Cl NOT_TRANSLATED +HP:0012236 Elevated sweat Cl- NOT_TRANSLATED +HP:0012237 High urine urocanic acid levels NOT_TRANSLATED +HP:0012238 Hyperchylomicronemia NOT_TRANSLATED +HP:0012238 Increased chylomicrons NOT_TRANSLATED +HP:0012238 Increased circulating chylomicron levels NOT_TRANSLATED +HP:0012240 Increased muscle lipid droplets NOT_TRANSLATED +HP:0012242 Rectus superior atrophy NOT_TRANSLATED +HP:0012243 Abnormal genital system morphology NOT_TRANSLATED +HP:0012246 Oculomotor neuropathy NOT_TRANSLATED +HP:0012248 Electrocardiographic long PR interval NOT_TRANSLATED +HP:0012248 Lengthened PR interval on EKG NOT_TRANSLATED +HP:0012254 Ewing's sarcoma NOT_TRANSLATED +HP:0012258 Abnormal axonemal organisation of respiratory motile cilia NOT_TRANSLATED +HP:0012265 Lack of coordinated beating of respiratory cilia NOT_TRANSLATED +HP:0012272 EKG J waves NOT_TRANSLATED +HP:0012272 Osborne waves NOT_TRANSLATED +HP:0012276 Trigger finger NOT_TRANSLATED +HP:0012277 Low blood glycine levels NOT_TRANSLATED +HP:0012279 Low blood serine levels NOT_TRANSLATED +HP:0012281 Chyloperitoneum NOT_TRANSLATED +HP:0012283 Small end part of outermost thighbone NOT_TRANSLATED +HP:0012284 Small end part of innermost shankbone NOT_TRANSLATED +HP:0012284 Small end part of innermost shinbone NOT_TRANSLATED +HP:0012286 Abnormal shape of hypothalamus NOT_TRANSLATED +HP:0012286 Abnormality of hypothalamus morphology NOT_TRANSLATED +HP:0012286 Abnormality of the hypothalamus NOT_TRANSLATED +HP:0012288 Head and neck cancer NOT_TRANSLATED +HP:0012288 Head and neck tumor NOT_TRANSLATED +HP:0012288 Head and neck tumour NOT_TRANSLATED +HP:0012289 Face tumor NOT_TRANSLATED +HP:0012289 Face tumour NOT_TRANSLATED +HP:0012292 Fusion of the gingiva NOT_TRANSLATED +HP:0012292 Gingival synechia NOT_TRANSLATED +HP:0012292 Partial fusion of the gums NOT_TRANSLATED +HP:0012292 Synechia of the gums NOT_TRANSLATED +HP:0012292 Upper and lower gums fused together NOT_TRANSLATED +HP:0012294 Abnormality of the occipital bone NOT_TRANSLATED +HP:0012295 Slender middle bone of finger NOT_TRANSLATED +HP:0012296 Slender outermost bone of finger NOT_TRANSLATED +HP:0012297 Slender innermost bone of finger NOT_TRANSLATED +HP:0012298 Long middle bone of finger NOT_TRANSLATED +HP:0012299 Long outermost bone of finger NOT_TRANSLATED +HP:0012301 Abnormal isoelectric focusing of serum transferrin, type 2 pattern NOT_TRANSLATED +HP:0012301 Abnormal isoelectric focusing of serum transferrin, type II pattern NOT_TRANSLATED +HP:0012301 Isoelectric focusing of serum transferrin consistent with CDG type II NOT_TRANSLATED +HP:0012301 Type 2 transferrin isoform profile NOT_TRANSLATED +HP:0012302 Herpes encephalitis NOT_TRANSLATED +HP:0012303 Abnormality of the aortic arch NOT_TRANSLATED +HP:0012304 Aortic arch hypoplasia NOT_TRANSLATED +HP:0012304 Underdeveloped aortic arch NOT_TRANSLATED +HP:0012306 Abnormal maturation of rib bones NOT_TRANSLATED +HP:0012308 Decreased serum C9 NOT_TRANSLATED +HP:0012310 Abnormal monocyte number NOT_TRANSLATED +HP:0012311 High blood monocyte number NOT_TRANSLATED +HP:0012312 Low blood monocyte number NOT_TRANSLATED +HP:0012317 Sacroiliitis NOT_TRANSLATED +HP:0012322 Perifollicular inflammation NOT_TRANSLATED +HP:0012324 Myeloid leukaemia NOT_TRANSLATED +HP:0012325 Chronic myelomonocytic leukaemia NOT_TRANSLATED +HP:0012326 Abnormal coeliac artery morphology NOT_TRANSLATED +HP:0012326 Abnormality of the celiac artery NOT_TRANSLATED +HP:0012326 Abnormality of the coeliac artery NOT_TRANSLATED +HP:0012327 Celiac axis syndrome NOT_TRANSLATED +HP:0012327 Coeliac artery compression NOT_TRANSLATED +HP:0012327 Coeliac axis syndrome NOT_TRANSLATED +HP:0012327 Dunbar syndrome NOT_TRANSLATED +HP:0012327 Median arcuate ligament syndrome NOT_TRANSLATED +HP:0012329 Angioblastoma NOT_TRANSLATED +HP:0012329 Angioblastoma of Nakagawa NOT_TRANSLATED +HP:0012329 Hypertrophic hemangioma NOT_TRANSLATED +HP:0012329 Progressive capillary hemangioma NOT_TRANSLATED +HP:0012329 Tufted hemangioma NOT_TRANSLATED +HP:0012332 Autonomic dysfunction NOT_TRANSLATED +HP:0012332 Autonomic dysregulation NOT_TRANSLATED +HP:0012332 Dysautonomia NOT_TRANSLATED +HP:0012333 Sudomotor sympathetic dysfunction NOT_TRANSLATED +HP:0012343 Decreased plasma ferritin NOT_TRANSLATED +HP:0012343 Decreased serum ferritin NOT_TRANSLATED +HP:0012343 Low ferritin level NOT_TRANSLATED +HP:0012343 Reduced serum ferritin NOT_TRANSLATED +HP:0012364 Decreased urinary K NOT_TRANSLATED +HP:0012364 Hypokaliuria NOT_TRANSLATED +HP:0012364 Hypokaluria NOT_TRANSLATED +HP:0012364 Low urine potassium levels NOT_TRANSLATED +HP:0012365 Low urine phosphate levels NOT_TRANSLATED +HP:0012368 Flat facial profile NOT_TRANSLATED +HP:0012368 Flat facial shape NOT_TRANSLATED +HP:0012368 Flat facies NOT_TRANSLATED +HP:0012370 Cheekbone excess NOT_TRANSLATED +HP:0012370 Cheekbone prominence NOT_TRANSLATED +HP:0012370 Hyperplasia of cheekbone NOT_TRANSLATED +HP:0012370 Hyperplasia of zygomatic bone NOT_TRANSLATED +HP:0012370 Malar hypertrophy NOT_TRANSLATED +HP:0012370 Prominence of cheekbone NOT_TRANSLATED +HP:0012370 Pronounced cheekbone NOT_TRANSLATED +HP:0012370 Zygomatic bone excess NOT_TRANSLATED +HP:0012370 Zygomatic hypertrophy NOT_TRANSLATED +HP:0012371 Big midface NOT_TRANSLATED +HP:0012371 Hypertrophy of midface NOT_TRANSLATED +HP:0012371 Large midface NOT_TRANSLATED +HP:0012371 Midface hyperplasia NOT_TRANSLATED +HP:0012371 Midfacial excess NOT_TRANSLATED +HP:0012371 Midfacial prominence NOT_TRANSLATED +HP:0012371 Overgrowth of the midface NOT_TRANSLATED +HP:0012372 Abnormal eye structure NOT_TRANSLATED +HP:0012372 Abnormality of the globe NOT_TRANSLATED +HP:0012372 Abnormally shaped eye NOT_TRANSLATED +HP:0012376 Small lens NOT_TRANSLATED +HP:0012377 Hemianopsia NOT_TRANSLATED +HP:0012378 Tired NOT_TRANSLATED +HP:0012378 Tiredness NOT_TRANSLATED +HP:0012384 Nasal inflammation NOT_TRANSLATED +HP:0012385 Permanent flexion of the finger or toe NOT_TRANSLATED +HP:0012386 Absent big toe NOT_TRANSLATED +HP:0012386 Agenesis of the halluces NOT_TRANSLATED +HP:0012386 Aplasia of the hallux NOT_TRANSLATED +HP:0012386 Missing big toe NOT_TRANSLATED +HP:0012390 Anal erosion NOT_TRANSLATED +HP:0012392 Mandibular hyporeflexia NOT_TRANSLATED +HP:0012397 Aortic atherosclerosis NOT_TRANSLATED +HP:0012397 Atherosclerosis of the aorta NOT_TRANSLATED +HP:0012397 Atherosclerotic changes of aorta NOT_TRANSLATED +HP:0012397 Plaque build-up in aorta artery NOT_TRANSLATED +HP:0012398 Peripheral oedema NOT_TRANSLATED +HP:0012399 Bedsore NOT_TRANSLATED +HP:0012399 Decubitus Ulcer NOT_TRANSLATED +HP:0012399 Pressure Sore NOT_TRANSLATED +HP:0012401 Abnormal urinary 2-oxoglutarate level NOT_TRANSLATED +HP:0012401 Abnormality of urine alpha ketoglutarate concentration NOT_TRANSLATED +HP:0012402 Elevated urinary 2-oxoglutarate NOT_TRANSLATED +HP:0012403 Decreased urinary 2-oxoglutarate NOT_TRANSLATED +HP:0012404 Abnormal urine citric acid concentration NOT_TRANSLATED +HP:0012405 Decreased urine citrate concentration NOT_TRANSLATED +HP:0012406 Increased urine citrate concentration NOT_TRANSLATED +HP:0012407 Scissor walk NOT_TRANSLATED +HP:0012407 Scissors gait NOT_TRANSLATED +HP:0012410 Red cell aplasia NOT_TRANSLATED +HP:0012411 Premature pubic hair growth NOT_TRANSLATED +HP:0012413 Notched front baby tooth NOT_TRANSLATED +HP:0012413 Notched front deciduous tooth NOT_TRANSLATED +HP:0012413 Notched front primary tooth NOT_TRANSLATED +HP:0012413 Syphilitic primary incisor NOT_TRANSLATED +HP:0012416 High blood carbon dioxide level NOT_TRANSLATED +HP:0012416 Hypercarbia NOT_TRANSLATED +HP:0012417 Hypocarbia NOT_TRANSLATED +HP:0012417 Reduced carbon dioxide in the blood NOT_TRANSLATED +HP:0012418 Hypoxia NOT_TRANSLATED +HP:0012418 Low blood oxygen level NOT_TRANSLATED +HP:0012420 Meconium staining of amniotic fluid NOT_TRANSLATED +HP:0012420 Meconium-stained amniotic fluid NOT_TRANSLATED +HP:0012421 Absent foreskin NOT_TRANSLATED +HP:0012421 Aposthia NOT_TRANSLATED +HP:0012422 Choroid plexus hypertrophy NOT_TRANSLATED +HP:0012422 Diffuse villous hypertrophy of choroid plexus NOT_TRANSLATED +HP:0012425 Colon ulcer NOT_TRANSLATED +HP:0012425 Recto-sigmoid colon stercoral ulcer NOT_TRANSLATED +HP:0012426 Optic nerve head drusen NOT_TRANSLATED +HP:0012427 Excessive femoral anteversion NOT_TRANSLATED +HP:0012427 Increased femoral neck anteversion NOT_TRANSLATED +HP:0012427 Internally rotated hips NOT_TRANSLATED +HP:0012428 Prominent heel bone NOT_TRANSLATED +HP:0012429 Absent/small cerebral white matter NOT_TRANSLATED +HP:0012429 Absent/underdeveloped cerebral white matter NOT_TRANSLATED +HP:0012430 Paucity of cerebral white matter NOT_TRANSLATED +HP:0012432 Chronic extreme exhaustion NOT_TRANSLATED +HP:0012433 Abnormal social behaviour NOT_TRANSLATED +HP:0012433 Abnormal social interactions NOT_TRANSLATED +HP:0012436 Non-occlusive coronary artery disease NOT_TRANSLATED +HP:0012436 Non-occlusive coronary artery stenosis NOT_TRANSLATED +HP:0012436 Nonocclusive coronary artery disease NOT_TRANSLATED +HP:0012436 Nonocclusive coronary artery stenosis NOT_TRANSLATED +HP:0012437 Abnormal gallbladder structure NOT_TRANSLATED +HP:0012437 Abnormal shape of gallbladder NOT_TRANSLATED +HP:0012440 Anomaly of the biliary tract NOT_TRANSLATED +HP:0012441 Sphincter of Oddi dysfunction NOT_TRANSLATED +HP:0012443 Abnormal shape of brain NOT_TRANSLATED +HP:0012443 Abnormality of the brain NOT_TRANSLATED +HP:0012444 Brain degeneration NOT_TRANSLATED +HP:0012444 Brain wasting NOT_TRANSLATED +HP:0012446 Cerebral folate deficiency NOT_TRANSLATED +HP:0012446 Low CSF 5-methyltetrahydrofolate NOT_TRANSLATED +HP:0012446 Reduced CSF 5-methyltetrahydrofolate concentration NOT_TRANSLATED +HP:0012450 Infrequent bowel movements NOT_TRANSLATED +HP:0012452 Restless legs syndrome NOT_TRANSLATED +HP:0012452 Willis-Ekbom disease NOT_TRANSLATED +HP:0012452 Wittmaack-Ekbom syndrome NOT_TRANSLATED +HP:0012453 Bilateral wrist contracture NOT_TRANSLATED +HP:0012454 Unilateral wrist contracture NOT_TRANSLATED +HP:0012459 Alarm clock headache NOT_TRANSLATED +HP:0012461 Bacteria in urine NOT_TRANSLATED +HP:0012461 High urine bacteria NOT_TRANSLATED +HP:0012462 Chin spasms NOT_TRANSLATED +HP:0012462 Geniospasm NOT_TRANSLATED +HP:0012465 Increased iron concentration in liver NOT_TRANSLATED +HP:0012465 Increased liver iron level NOT_TRANSLATED +HP:0012470 Eyes fixed downward NOT_TRANSLATED +HP:0012470 Sun setting eyes NOT_TRANSLATED +HP:0012470 Sunsetting eye NOT_TRANSLATED +HP:0012471 Full lips NOT_TRANSLATED +HP:0012471 Increased volume of lip NOT_TRANSLATED +HP:0012471 Increased volume of lip vermillion NOT_TRANSLATED +HP:0012471 Plump lips NOT_TRANSLATED +HP:0012471 Prominent lips NOT_TRANSLATED +HP:0012471 Thick lips NOT_TRANSLATED +HP:0012472 Eclabium NOT_TRANSLATED +HP:0012472 Everted lips NOT_TRANSLATED +HP:0012472 Outward turned lips NOT_TRANSLATED +HP:0012473 Atrophy of the tongue NOT_TRANSLATED +HP:0012473 Lingual atrophy NOT_TRANSLATED +HP:0012473 Lingual wasting NOT_TRANSLATED +HP:0012473 Wasting of the tongue NOT_TRANSLATED +HP:0012474 Obstructed carotid artery NOT_TRANSLATED +HP:0012475 Abnormal specific antibody response NOT_TRANSLATED +HP:0012475 Decreased specific antibody in blood NOT_TRANSLATED +HP:0012475 Specific antibody deficiency NOT_TRANSLATED +HP:0012476 Low pneumococcal antibody titer NOT_TRANSLATED +HP:0012476 Specific pneumococcal antibody deficiency NOT_TRANSLATED +HP:0012477 Shakey voice NOT_TRANSLATED +HP:0012478 Adhesion of the temporomandibular joint NOT_TRANSLATED +HP:0012478 Ankylosis of temporomandibular joint NOT_TRANSLATED +HP:0012478 Freezing of jaw joint NOT_TRANSLATED +HP:0012478 Freezing of the temporomandibular joint NOT_TRANSLATED +HP:0012478 Rigidity of the temporomandibular joint NOT_TRANSLATED +HP:0012478 Temporomandibular joint fusion NOT_TRANSLATED +HP:0012479 Jaw joint clicking sound NOT_TRANSLATED +HP:0012479 Jaw joint crepitus NOT_TRANSLATED +HP:0012479 Jaw joint grating sound NOT_TRANSLATED +HP:0012479 Jaw joint noise NOT_TRANSLATED +HP:0012479 Jaw joint popping sound NOT_TRANSLATED +HP:0012479 Jaw joint sounds NOT_TRANSLATED +HP:0012479 Temporomandibular joint clicking sound NOT_TRANSLATED +HP:0012479 Temporomandibular joint grating sound NOT_TRANSLATED +HP:0012479 Temporomandibular joint noise NOT_TRANSLATED +HP:0012479 Temporomandibular joint popping sound NOT_TRANSLATED +HP:0012479 Temporomandibular joint sounds NOT_TRANSLATED +HP:0012480 Abnormality of cerebral veins NOT_TRANSLATED +HP:0012481 Developmental Venous Anomaly NOT_TRANSLATED +HP:0012486 Inflammation of spinal cord NOT_TRANSLATED +HP:0012490 Inflammation of adipose tissue NOT_TRANSLATED +HP:0012490 Inflammation of fat tissue NOT_TRANSLATED +HP:0012492 Narrowing of a cerebral artery NOT_TRANSLATED +HP:0012499 Type B aortic dissection NOT_TRANSLATED +HP:0012500 Papillomatous papule NOT_TRANSLATED +HP:0012501 Abnormality of the brainstem white matter NOT_TRANSLATED +HP:0012503 disorder of pituitary gland NOT_TRANSLATED +HP:0012507 Weakness of orbicularis oculi muscles NOT_TRANSLATED +HP:0012510 Extra-axial CSF accumulation NOT_TRANSLATED +HP:0012514 Leg pain NOT_TRANSLATED +HP:0012518 Abnormality of the cerebral arterial circle NOT_TRANSLATED +HP:0012519 Hypoplastic posterior communicating arteries NOT_TRANSLATED +HP:0012520 Dilated Virchow-Robin spaces NOT_TRANSLATED +HP:0012520 Dilated cerebral perivascular spaces NOT_TRANSLATED +HP:0012520 Perivascular spaces NOT_TRANSLATED +HP:0012521 Absent optic nerve NOT_TRANSLATED +HP:0012521 Aplastic optic nerve NOT_TRANSLATED +HP:0012526 Gray platelets NOT_TRANSLATED +HP:0012526 Grey platelets NOT_TRANSLATED +HP:0012532 Long-lasting pain NOT_TRANSLATED +HP:0012534 Dysaesthesia NOT_TRANSLATED +HP:0012534 Dysesthesias NOT_TRANSLATED +HP:0012534 Hyperalgesia NOT_TRANSLATED +HP:0012534 Hyperpathia NOT_TRANSLATED +HP:0012535 Abnormality of neurotransmitter metabolism NOT_TRANSLATED +HP:0012537 Non-allergic food hypersensitivity NOT_TRANSLATED +HP:0012538 Gluten sensitivity NOT_TRANSLATED +HP:0012540 Armpit cyst NOT_TRANSLATED +HP:0012541 Cephalohaematoma NOT_TRANSLATED +HP:0012548 Skeletal muscle fatty infiltration NOT_TRANSLATED +HP:0012553 Small thumbnail NOT_TRANSLATED +HP:0012553 Underdeveloped thumbnail NOT_TRANSLATED +HP:0012555 Absent big toe nail NOT_TRANSLATED +HP:0012555 Absent nail of big toe NOT_TRANSLATED +HP:0012556 High blood beta-alanine levels NOT_TRANSLATED +HP:0012556 Hyperbetaalaninemia NOT_TRANSLATED +HP:0012568 Cellulitis of lower eyelid NOT_TRANSLATED +HP:0012568 Fullness of lower eyelid NOT_TRANSLATED +HP:0012568 Lower eyelid oedema NOT_TRANSLATED +HP:0012568 Puffiness of lower eyelid NOT_TRANSLATED +HP:0012568 Swelling of lower eyelid NOT_TRANSLATED +HP:0012569 Delayed start of first period NOT_TRANSLATED +HP:0012570 Malignant synovioma NOT_TRANSLATED +HP:0012571 Partially duplicated ureter NOT_TRANSLATED +HP:0012574 Mesangial proliferation NOT_TRANSLATED +HP:0012575 Abnormality of the nephron NOT_TRANSLATED +HP:0012576 C3 nephropathy NOT_TRANSLATED +HP:0012576 Renal C3 deposition NOT_TRANSLATED +HP:0012578 Membranous glomerulonephritis NOT_TRANSLATED +HP:0012579 Minimal change disease NOT_TRANSLATED +HP:0012579 Minimal change nephropathy NOT_TRANSLATED +HP:0012580 Ca phosphate nephrolithiasis NOT_TRANSLATED +HP:0012580 Ca phosphate urolithiasis NOT_TRANSLATED +HP:0012580 Ca2+ phosphate nephrolitiasis NOT_TRANSLATED +HP:0012580 Ca2+ phosphate urolithiasis NOT_TRANSLATED +HP:0012580 Calcium phosphate urolithiasis NOT_TRANSLATED +HP:0012581 Simple kidney cyst NOT_TRANSLATED +HP:0012581 Solitary renal cyst NOT_TRANSLATED +HP:0012581 single cortical cyst NOT_TRANSLATED +HP:0012583 Small kidney on one side NOT_TRANSLATED +HP:0012583 Underdeveloped kidney on one side NOT_TRANSLATED +HP:0012585 Kidney degeneration NOT_TRANSLATED +HP:0012586 Bilateral kidney degeneration NOT_TRANSLATED +HP:0012587 Bloody urine NOT_TRANSLATED +HP:0012587 Gross hematuria NOT_TRANSLATED +HP:0012588 SRNS NOT_TRANSLATED +HP:0012591 Urinary electrolyte imbalance NOT_TRANSLATED +HP:0012594 High urine albumin levels NOT_TRANSLATED +HP:0012594 Microalbuminuria NOT_TRANSLATED +HP:0012597 Severly high blood protein levels NOT_TRANSLATED +HP:0012598 Abnormal urine K concentration NOT_TRANSLATED +HP:0012600 Abnormal urine Cl concentration NOT_TRANSLATED +HP:0012600 Abnormal urine Cl- concentration NOT_TRANSLATED +HP:0012601 Decreased urinary chloride NOT_TRANSLATED +HP:0012601 Low urine chloride levels NOT_TRANSLATED +HP:0012602 Kidney chloride wasting NOT_TRANSLATED +HP:0012602 Renal Cl wasting NOT_TRANSLATED +HP:0012602 Renal Cl- wasting NOT_TRANSLATED +HP:0012603 Abnormal urine Na concentration NOT_TRANSLATED +HP:0012603 Abnormal urine Na+ levels NOT_TRANSLATED +HP:0012604 Low urine sodium levels NOT_TRANSLATED +HP:0012605 Increased urinary sodium NOT_TRANSLATED +HP:0012606 Kidney sodium wasting NOT_TRANSLATED +HP:0012606 Renal Na wasting NOT_TRANSLATED +HP:0012606 Renal Na+ wasting NOT_TRANSLATED +HP:0012609 Decreased urine magnesium NOT_TRANSLATED +HP:0012609 Low urine magnesium levels NOT_TRANSLATED +HP:0012612 Abnormal urinary sulphate concentration NOT_TRANSLATED +HP:0012613 Increased urinary sulphate NOT_TRANSLATED +HP:0012615 Urinary casts NOT_TRANSLATED +HP:0012616 White blood cell casts NOT_TRANSLATED +HP:0012617 Red blood cell casts NOT_TRANSLATED +HP:0012617 Urinary erythrocyte cast NOT_TRANSLATED +HP:0012619 Multiple pouches in bladder wall NOT_TRANSLATED +HP:0012621 Cloacogenic bladder NOT_TRANSLATED +HP:0012622 Loss of renal function NOT_TRANSLATED +HP:0012622 Progressive renal failure NOT_TRANSLATED +HP:0012622 Progressive renal insufficiency NOT_TRANSLATED +HP:0012622 Renal failure, progressive NOT_TRANSLATED +HP:0012622 Renal insufficiency, progressive NOT_TRANSLATED +HP:0012628 Abnormality of the suspensory ligament of lens NOT_TRANSLATED +HP:0012628 Abnormality of zinn's membrane NOT_TRANSLATED +HP:0012628 Ciliary zonule abnormality NOT_TRANSLATED +HP:0012628 Zonule of zinn abnormality NOT_TRANSLATED +HP:0012629 Phacodonesis NOT_TRANSLATED +HP:0012629 Trembling eye lens NOT_TRANSLATED +HP:0012630 Abnormality of the trabecular meshwork NOT_TRANSLATED +HP:0012632 Abnormal eye pressure NOT_TRANSLATED +HP:0012637 Kidney Ca wasting NOT_TRANSLATED +HP:0012637 Kidney Ca2+ wasting NOT_TRANSLATED +HP:0012637 Kidney calcium wasting NOT_TRANSLATED +HP:0012637 Renal Ca wasting NOT_TRANSLATED +HP:0012637 Renal Ca2+ wasting NOT_TRANSLATED +HP:0012638 Abnormality of nervous system physiology NOT_TRANSLATED +HP:0012639 Abnormal shape of nervous system NOT_TRANSLATED +HP:0012639 Abnormality of nervous system morphology NOT_TRANSLATED +HP:0012641 Intracranial hypotension NOT_TRANSLATED +HP:0012645 Enlarged peripheral nerves NOT_TRANSLATED +HP:0012646 Retractile testicle NOT_TRANSLATED +HP:0012650 Frontoparietal polymicrogyria NOT_TRANSLATED +HP:0012653 Acute severe asthma NOT_TRANSLATED +HP:0012654 Abnormal CSF dopamine level NOT_TRANSLATED +HP:0012657 Abnormal brain PET scan NOT_TRANSLATED +HP:0012658 Abnormal brain FDG PET scan NOT_TRANSLATED +HP:0012663 Mildly reduced ejection fraction NOT_TRANSLATED +HP:0012664 Reduced ejection fraction NOT_TRANSLATED +HP:0012665 Moderately reduced ejection fraction NOT_TRANSLATED +HP:0012666 Severely reduced ejection fraction NOT_TRANSLATED +HP:0012668 Neurocardiogenic syncope NOT_TRANSLATED +HP:0012668 Reflex syncope NOT_TRANSLATED +HP:0012668 Situational syncope NOT_TRANSLATED +HP:0012671 Aboulia NOT_TRANSLATED +HP:0012673 Absent upper vagina NOT_TRANSLATED +HP:0012674 Absent lower vagina NOT_TRANSLATED +HP:0012674 Agenesis of the lower vagina NOT_TRANSLATED +HP:0012675 Brain iron deposition NOT_TRANSLATED +HP:0012676 Brain copper accumulation NOT_TRANSLATED +HP:0012681 Abnormality of pineal morphology NOT_TRANSLATED +HP:0012699 Anomaly of shaft of long bone of lower limb NOT_TRANSLATED +HP:0012701 Faecal urgency NOT_TRANSLATED +HP:0012701 Fecal urgency NOT_TRANSLATED +HP:0012703 Abnormality of the subarachnoid space NOT_TRANSLATED +HP:0012704 Enlarged subarachnoid space NOT_TRANSLATED +HP:0012704 Widened subarachnoid spaces NOT_TRANSLATED +HP:0012708 Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0012711 Delayed maturation of the end part of the vertebral bone NOT_TRANSLATED +HP:0012714 Severe deafness NOT_TRANSLATED +HP:0012714 Severe hearing loss NOT_TRANSLATED +HP:0012716 Conductive hearing loss, moderate NOT_TRANSLATED +HP:0012717 Conductive hearing loss, severe NOT_TRANSLATED +HP:0012718 Abnormal shape of the digestive system NOT_TRANSLATED +HP:0012718 Morphological abnormality of the GI tract NOT_TRANSLATED +HP:0012718 Morphological anomaly of the digestive system NOT_TRANSLATED +HP:0012719 Functional abnormality of the GI tract NOT_TRANSLATED +HP:0012719 GI dysfunction NOT_TRANSLATED +HP:0012720 Nasal neoplasm NOT_TRANSLATED +HP:0012720 Nasal tumor NOT_TRANSLATED +HP:0012720 Nasal tumour NOT_TRANSLATED +HP:0012720 Neoplasia of the nose NOT_TRANSLATED +HP:0012720 Nose cancer NOT_TRANSLATED +HP:0012720 Tumor of the nose NOT_TRANSLATED +HP:0012720 Tumour of the nose NOT_TRANSLATED +HP:0012721 Venous malformations NOT_TRANSLATED +HP:0012724 Cellulitis of upper eyelid NOT_TRANSLATED +HP:0012724 Fullness of upper eyelid NOT_TRANSLATED +HP:0012724 Puffiness of upper eyelid NOT_TRANSLATED +HP:0012724 Swelling of upper eyelid NOT_TRANSLATED +HP:0012724 Upper eyelid oedema NOT_TRANSLATED +HP:0012725 Cutaneous syndactyly of digits NOT_TRANSLATED +HP:0012725 Syndactyly, cutaneous NOT_TRANSLATED +HP:0012726 Recurrent low potassium NOT_TRANSLATED +HP:0012727 Dilatation of the thoracic aorta NOT_TRANSLATED +HP:0012728 Dilatation of the fusiform descending thoracic aorta NOT_TRANSLATED +HP:0012729 Dilatation of the saccular descending thoracic aorta NOT_TRANSLATED +HP:0012730 Absence of tongue NOT_TRANSLATED +HP:0012730 Failure of development of tongue NOT_TRANSLATED +HP:0012730 Missing tongue NOT_TRANSLATED +HP:0012733 Flat, discolored area of skin NOT_TRANSLATED +HP:0012733 Flat, discoloured area of skin NOT_TRANSLATED +HP:0012734 Ketotic low blood sugar NOT_TRANSLATED +HP:0012735 Coughing NOT_TRANSLATED +HP:0012736 Global developmental delay, profound NOT_TRANSLATED +HP:0012736 Psychomotor retardation, profound NOT_TRANSLATED +HP:0012738 Absence of canine NOT_TRANSLATED +HP:0012738 Absence of eye tooth NOT_TRANSLATED +HP:0012738 Absent canines NOT_TRANSLATED +HP:0012738 Failure of development of canine NOT_TRANSLATED +HP:0012738 Failure of development of eye tooth NOT_TRANSLATED +HP:0012738 Missing canine NOT_TRANSLATED +HP:0012738 Missing eye tooth NOT_TRANSLATED +HP:0012739 Small bowel agenesis NOT_TRANSLATED +HP:0012739 Undeveloped small intestine NOT_TRANSLATED +HP:0012741 Cryptorchidism, unilateral NOT_TRANSLATED +HP:0012743 Central obesity NOT_TRANSLATED +HP:0012744 Absent femur NOT_TRANSLATED +HP:0012744 Absent thighbone NOT_TRANSLATED +HP:0012744 Aplasia of the femur NOT_TRANSLATED +HP:0012745 Decreased height of palpebral fissure NOT_TRANSLATED +HP:0012745 Short opening between the eyelids NOT_TRANSLATED +HP:0012745 Short palpebral fissures NOT_TRANSLATED +HP:0012746 Thin toenails NOT_TRANSLATED +HP:0012757 Abnormal neuron shape NOT_TRANSLATED +HP:0012757 Abnormal neuronal morphology NOT_TRANSLATED +HP:0012758 NDD NOT_TRANSLATED +HP:0012761 Absent mastoids NOT_TRANSLATED +HP:0012761 Failure of development of mastoid NOT_TRANSLATED +HP:0012761 Mastoid agenesis NOT_TRANSLATED +HP:0012763 Paroxysmal dyspnoea NOT_TRANSLATED +HP:0012768 Asphyxia neonatorum NOT_TRANSLATED +HP:0012776 Abnormality of the ciliary body NOT_TRANSLATED +HP:0012780 Ear tumor NOT_TRANSLATED +HP:0012780 Ear tumour NOT_TRANSLATED +HP:0012782 Perilobar nephrogenic rests NOT_TRANSLATED +HP:0012783 Intralobar nephrogenic rests NOT_TRANSLATED +HP:0012785 Flexion deformity of finger NOT_TRANSLATED +HP:0012786 Recurrent bladder infections NOT_TRANSLATED +HP:0012788 Mottled pigmentation of oral mucosa NOT_TRANSLATED +HP:0012788 Reticulate pigmentation of oral mucous membrane NOT_TRANSLATED +HP:0012789 Hypoplastic calcaneus NOT_TRANSLATED +HP:0012789 Small heel bone NOT_TRANSLATED +HP:0012789 Underdeveloped heel bone NOT_TRANSLATED +HP:0012790 Abnormal intramembranous bone ossification NOT_TRANSLATED +HP:0012791 Abnormal maturation of long bone in upper arm NOT_TRANSLATED +HP:0012793 Kinked brain stem NOT_TRANSLATED +HP:0012794 Periventricular cerebral white matter hypodensities NOT_TRANSLATED +HP:0012796 Elevated cup to disc ratio NOT_TRANSLATED +HP:0012796 Increased cup disc ratio NOT_TRANSLATED +HP:0012797 Lymphatic vessel tumor NOT_TRANSLATED +HP:0012797 Lymphatic vessel tumour NOT_TRANSLATED +HP:0012798 Lymphangioleiomyomatosis NOT_TRANSLATED +HP:0012798 Pulmonary myomatosis NOT_TRANSLATED +HP:0012799 Facial droop NOT_TRANSLATED +HP:0012799 Paralysis of one side of the face NOT_TRANSLATED +HP:0012799 Unilateral facial muscle paralysis NOT_TRANSLATED +HP:0012799 Unilateral facial muscle weakness NOT_TRANSLATED +HP:0012799 Unilateral facial paralysis NOT_TRANSLATED +HP:0012799 Unilateral facial weakness NOT_TRANSLATED +HP:0012799 Weakness of one side of the face NOT_TRANSLATED +HP:0012800 Accessory fontanelle NOT_TRANSLATED +HP:0012800 Extra cranial suture NOT_TRANSLATED +HP:0012800 Extra fontanelle NOT_TRANSLATED +HP:0012800 Supernumary cranial suture NOT_TRANSLATED +HP:0012800 Supernumary fontanelle NOT_TRANSLATED +HP:0012801 Narrow lower face NOT_TRANSLATED +HP:0012801 Narrow lower jaw NOT_TRANSLATED +HP:0012801 Narrow mandible NOT_TRANSLATED +HP:0012801 Thin lower face NOT_TRANSLATED +HP:0012801 Thin lower jaw NOT_TRANSLATED +HP:0012802 Broad lower face NOT_TRANSLATED +HP:0012802 Broad mandible NOT_TRANSLATED +HP:0012802 Wide jaw NOT_TRANSLATED +HP:0012802 Wide mandible NOT_TRANSLATED +HP:0012804 Corneal ulcer NOT_TRANSLATED +HP:0012804 Corneal ulcerations NOT_TRANSLATED +HP:0012807 Ala lower than columella NOT_TRANSLATED +HP:0012807 Columella, high insertion NOT_TRANSLATED +HP:0012808 Abnormal nasal base NOT_TRANSLATED +HP:0012808 Abnormality of base of nose NOT_TRANSLATED +HP:0012808 Anomaly of base of nose NOT_TRANSLATED +HP:0012808 Anomaly of nasal base NOT_TRANSLATED +HP:0012808 Deformity of base of nose NOT_TRANSLATED +HP:0012808 Deformity of nasal base NOT_TRANSLATED +HP:0012808 Malformation of base of nose NOT_TRANSLATED +HP:0012808 Malformation of nasal base NOT_TRANSLATED +HP:0012809 Decreased width of base of nose NOT_TRANSLATED +HP:0012809 Decreased width of nasal base NOT_TRANSLATED +HP:0012809 Narrow base of nose NOT_TRANSLATED +HP:0012809 Thin base of nose NOT_TRANSLATED +HP:0012809 Thin nasal base NOT_TRANSLATED +HP:0012810 Broad base of nose NOT_TRANSLATED +HP:0012810 Broad nasal base NOT_TRANSLATED +HP:0012810 Increased width of base of nose NOT_TRANSLATED +HP:0012810 Increased width of nasal base NOT_TRANSLATED +HP:0012810 Wide base of nose NOT_TRANSLATED +HP:0012811 Broad dorsum of nose NOT_TRANSLATED +HP:0012811 Broad nasal dorsum NOT_TRANSLATED +HP:0012811 Broad nasal ridge NOT_TRANSLATED +HP:0012811 Increased width of dorsum of nose NOT_TRANSLATED +HP:0012811 Increased width of nasal dorsum NOT_TRANSLATED +HP:0012811 Increased width of nasal ridge NOT_TRANSLATED +HP:0012811 Nasal ridge, wide NOT_TRANSLATED +HP:0012811 Wide dorsum of nose NOT_TRANSLATED +HP:0012811 Wide nasal dorsum NOT_TRANSLATED +HP:0012812 Fullness of tissue around the nose NOT_TRANSLATED +HP:0012812 Hyperplasia of paranasal tissue NOT_TRANSLATED +HP:0012812 Hypertrophy of paranasal tissue NOT_TRANSLATED +HP:0012812 Laterally built up nose NOT_TRANSLATED +HP:0012812 Paranasal fullness NOT_TRANSLATED +HP:0012812 Thick paranasal tissue NOT_TRANSLATED +HP:0012812 Thick tissue around the nose NOT_TRANSLATED +HP:0012813 One underdeveloped breast NOT_TRANSLATED +HP:0012814 Two underdeveloped breasts NOT_TRANSLATED +HP:0012815 Underdeveloped female external genitalia NOT_TRANSLATED +HP:0012817 Noncompaction of the ventricular myocardium NOT_TRANSLATED +HP:0012817 Spongiform cardiomyopathy NOT_TRANSLATED +HP:0012819 Inflammation of heart muscle NOT_TRANSLATED +HP:0012823 Phenotypic modifier NOT_TRANSLATED +HP:0012824 Intensity NOT_TRANSLATED +HP:0012834 Right-sided NOT_TRANSLATED +HP:0012835 Left-sided NOT_TRANSLATED +HP:0012837 Generalised NOT_TRANSLATED +HP:0012838 Localised NOT_TRANSLATED +HP:0012839 Outermost NOT_TRANSLATED +HP:0012841 Tortuous retinal vessels NOT_TRANSLATED +HP:0012842 Skin adnexal neoplasm NOT_TRANSLATED +HP:0012842 Skin adnexal tumor NOT_TRANSLATED +HP:0012842 Skin adnexal tumour NOT_TRANSLATED +HP:0012844 Tricholemmoma NOT_TRANSLATED +HP:0012846 Multiple trichilemmomas NOT_TRANSLATED +HP:0012847 Epilepsia partialis continua of Kojevnikov NOT_TRANSLATED +HP:0012847 Kojevnikov's epilepsia NOT_TRANSLATED +HP:0012847 Kozhevnikov's epilepsia NOT_TRANSLATED +HP:0012848 Narrowing of small intestine NOT_TRANSLATED +HP:0012849 Small intestinal haemorrhage NOT_TRANSLATED +HP:0012849 Small intestinal hemorrhage NOT_TRANSLATED +HP:0012851 Narrowing of the colon NOT_TRANSLATED +HP:0012851 Stenosis of the colon NOT_TRANSLATED +HP:0012855 Hyperpigmentation of the scrotum NOT_TRANSLATED +HP:0012855 Hyperpigmented scrotum NOT_TRANSLATED +HP:0012855 Increased pigmentation in scrotum NOT_TRANSLATED +HP:0012859 Esophageal epidermoid metaplasia NOT_TRANSLATED +HP:0012860 Fibrotic testes NOT_TRANSLATED +HP:0012860 Fibrotic testicle NOT_TRANSLATED +HP:0012862 Abnormal shape of a reproductive cell NOT_TRANSLATED +HP:0012862 Abnormally shaped germ cell NOT_TRANSLATED +HP:0012862 Abnormally shaped reproductive cell NOT_TRANSLATED +HP:0012864 Abnormal shape of sperm NOT_TRANSLATED +HP:0012864 Teratospermia NOT_TRANSLATED +HP:0012864 Teratozoospermia NOT_TRANSLATED +HP:0012865 Sperm head anomaly NOT_TRANSLATED +HP:0012866 Sperm neck anomaly NOT_TRANSLATED +HP:0012867 Sperm mid-piece anomaly NOT_TRANSLATED +HP:0012868 Sperm tail anomaly NOT_TRANSLATED +HP:0012870 Testicular regression syndrome NOT_TRANSLATED +HP:0012871 Vaginal varicocele NOT_TRANSLATED +HP:0012873 Absent deferent duct NOT_TRANSLATED +HP:0012873 Absent ductus deferens NOT_TRANSLATED +HP:0012873 Congenital absence of the vas deferens NOT_TRANSLATED +HP:0012874 Abnormal male genital system physiology NOT_TRANSLATED +HP:0012878 Delayed ejaculation NOT_TRANSLATED +HP:0012879 Ejaculatory incompetence NOT_TRANSLATED +HP:0012880 Abnormality of the inner vaginal lips NOT_TRANSLATED +HP:0012880 Abnormality of the labia minora NOT_TRANSLATED +HP:0012881 Abnormality of the labia majora NOT_TRANSLATED +HP:0012881 Abnormality of vaginal lips NOT_TRANSLATED +HP:0012882 Enlarged labia majora NOT_TRANSLATED +HP:0012882 Hyperplasia of labia majora NOT_TRANSLATED +HP:0012884 Twisted fallopian tube NOT_TRANSLATED +HP:0012885 Accessory fallopian tube NOT_TRANSLATED +HP:0012887 Serous ovarian cyst NOT_TRANSLATED +HP:0012888 Abnormality of the uterine cervix NOT_TRANSLATED +HP:0012891 High hairline at back of head NOT_TRANSLATED +HP:0012892 Hyperplasia of facial muscles NOT_TRANSLATED +HP:0012892 Increased size of facial muscles NOT_TRANSLATED +HP:0012892 Large facial muscles NOT_TRANSLATED +HP:0012893 Hyperplasia of neck muscles NOT_TRANSLATED +HP:0012893 Hypertrophy of cervical muscles NOT_TRANSLATED +HP:0012893 Increased size of neck muscles NOT_TRANSLATED +HP:0012893 Large neck muscles NOT_TRANSLATED +HP:0012893 Overgrowth of neck muscles NOT_TRANSLATED +HP:0012897 Abnormal motor evoked potentials in the upper limb NOT_TRANSLATED +HP:0012898 Abnormal motor evoked potentials in the lower limb NOT_TRANSLATED +HP:0012899 Grip myotonia NOT_TRANSLATED +HP:0012905 Kabuki syndrome eyelids NOT_TRANSLATED +HP:0020045 Convergent squint NOT_TRANSLATED +HP:0020045 Convergent strabismus NOT_TRANSLATED +HP:0020049 Divergent strabismus NOT_TRANSLATED +HP:0020050 Anti-GM-CSF antibody positivity NOT_TRANSLATED +HP:0020058 Abnormal RBC count NOT_TRANSLATED +HP:0020059 Increased RBC count NOT_TRANSLATED +HP:0020060 Decreased RBC count NOT_TRANSLATED +HP:0020061 Abnormal Hb concentration NOT_TRANSLATED +HP:0020061 Abnormal haemoglobin concentration NOT_TRANSLATED +HP:0020062 Decreased Hb concentration NOT_TRANSLATED +HP:0020062 Decreased haemoglobin concentration NOT_TRANSLATED +HP:0020063 Increased Hb concentration NOT_TRANSLATED +HP:0020063 Increased haemoglobin concentration NOT_TRANSLATED +HP:0020076 Ganglion cyst of the wrist NOT_TRANSLATED +HP:0020078 Increased urinary alanine NOT_TRANSLATED +HP:0020083 Boil NOT_TRANSLATED +HP:0020087 BCGiosis NOT_TRANSLATED +HP:0020087 Disseminated Bacillus Calmette-Guerin infection NOT_TRANSLATED +HP:0020088 Vaccine associated measles NOT_TRANSLATED +HP:0020111 Abnormal CD4+CD25+ Treg cell proportion NOT_TRANSLATED +HP:0020112 Elevated proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED +HP:0020112 Increased proportion of CD4+CD25+ Treg cells NOT_TRANSLATED +HP:0020113 Decreased proportion of CD4+CD25+ Treg cells NOT_TRANSLATED +HP:0020113 Reduced proportion of CD4+CD25+ regulatory T cells NOT_TRANSLATED +HP:0020119 Abnormal retinal nerve fibre layer morphology NOT_TRANSLATED +HP:0020120 Retinal nerve fibre oedema NOT_TRANSLATED +HP:0020122 Blister cells NOT_TRANSLATED +HP:0020122 Degmacytes NOT_TRANSLATED +HP:0020123 Tympanic calcification NOT_TRANSLATED +HP:0020125 Conjunctival avascular cysts (filtering blebs) NOT_TRANSLATED +HP:0020125 Spontaneous filtering bleb NOT_TRANSLATED +HP:0020130 Increased urinary NGAL NOT_TRANSLATED +HP:0020133 Glomerular visceral epithelial cell hypertrophy NOT_TRANSLATED +HP:0020133 Hypertrophy of visceral epithelial cells NOT_TRANSLATED +HP:0020141 Blood pressure substantially higher in lower than upper extremities NOT_TRANSLATED +HP:0020141 Blood pressure substantially lower in arms than legs NOT_TRANSLATED +HP:0020141 Blood pressure substantially lower in upper than lower extremities NOT_TRANSLATED +HP:0020142 Blood pressure substantially higher in upper than lower extremities NOT_TRANSLATED +HP:0020142 Increased arm-leg blood pressure gradient NOT_TRANSLATED +HP:0020150 Elevated urinary Tamm-Horsfall protein concentration NOT_TRANSLATED +HP:0020158 Increased circulating docosatetraenoate level NOT_TRANSLATED +HP:0020159 Reduce response to GnRH stimulation test NOT_TRANSLATED +HP:0020170 Elevated blood drug concentration NOT_TRANSLATED +HP:0020170 Elevated plasma drug concentration NOT_TRANSLATED +HP:0020170 Elevated serum drug concentrations NOT_TRANSLATED +HP:0020170 Increased plasma drug concentration NOT_TRANSLATED +HP:0020170 Increased serum drug concentration NOT_TRANSLATED +HP:0020171 Decreased plasma drug concentration NOT_TRANSLATED +HP:0020171 Decreased serum drug concentration NOT_TRANSLATED +HP:0020171 Reduced blood drug concentration NOT_TRANSLATED +HP:0020171 Reduced plasma drug concentration NOT_TRANSLATED +HP:0020171 Reduced serum drug concentrations NOT_TRANSLATED +HP:0020172 Adverse drug reaction NOT_TRANSLATED +HP:0020172 Drug-induced reaction NOT_TRANSLATED +HP:0020172 Drug-induced response NOT_TRANSLATED +HP:0020172 Toxic drug response NOT_TRANSLATED +HP:0020173 Decreased drug efficacy NOT_TRANSLATED +HP:0020174 Drug resistance NOT_TRANSLATED +HP:0020177 Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated NOT_TRANSLATED +HP:0020186 Multi-lobulated spleen NOT_TRANSLATED +HP:0020187 Pachygyria with cortical thickness > 10 mm NOT_TRANSLATED +HP:0020187 Pachygyria with cortical thickness above 10 mm NOT_TRANSLATED +HP:0020189 Occipital predomimant classic pachygyria NOT_TRANSLATED +HP:0020189 Pachygyria with cortical thickness over 10 mm posterior predominant NOT_TRANSLATED +HP:0020190 Pachygyria with cortical thickness > 10 mm perisylvian predominant NOT_TRANSLATED +HP:0020191 Pachygyria with cortical thickness > 10 mm anterior predominant NOT_TRANSLATED +HP:0020194 Alpha heavy chain disease NOT_TRANSLATED +HP:0020195 Gamma heavy-chain disease NOT_TRANSLATED +HP:0020197 Increased circulating arachidonate level NOT_TRANSLATED +HP:0020197 Increased circulating arachidonic acid level NOT_TRANSLATED +HP:0020204 Renal tubulointerstitial bacterial organisms NOT_TRANSLATED +HP:0020205 Renal tubulointerstitial fungal organisms NOT_TRANSLATED +HP:0020215 Cognition induced seizure NOT_TRANSLATED +HP:0020216 Photosensitive seizure NOT_TRANSLATED +HP:0020217 Focal motor aware seizure NOT_TRANSLATED +HP:0020220 Localised atonic seizure NOT_TRANSLATED +HP:0020220 Localised hypotonic seizure NOT_TRANSLATED +HP:0020220 Localized atonic seizure NOT_TRANSLATED +HP:0020220 Localized hypotonic seizure NOT_TRANSLATED +HP:0020220 Partial atonic seizure NOT_TRANSLATED +HP:0020220 Partial hypotonic seizure NOT_TRANSLATED +HP:0020220 Segmental atonic seizure NOT_TRANSLATED +HP:0020220 Segmental hypotonic seizure NOT_TRANSLATED +HP:0025004 Arthritis of the big toe NOT_TRANSLATED +HP:0025006 Abnormalities of the glomerular capillary wall NOT_TRANSLATED +HP:0025007 Ectopic macula NOT_TRANSLATED +HP:0025009 Forward directed upper incisors NOT_TRANSLATED +HP:0025009 Proclination of the upper incisors NOT_TRANSLATED +HP:0025009 Protruding upper incisors NOT_TRANSLATED +HP:0025013 Decerebrate posturing NOT_TRANSLATED +HP:0025021 Abnormal ESR NOT_TRANSLATED +HP:0025021 Abnormal Westergren sedimentation rate NOT_TRANSLATED +HP:0025022 Decreased ESR NOT_TRANSLATED +HP:0025022 Low ESR NOT_TRANSLATED +HP:0025023 Atresia of the rectum NOT_TRANSLATED +HP:0025025 Vestibular fistula NOT_TRANSLATED +HP:0025027 Cutaneous osteosis NOT_TRANSLATED +HP:0025027 Miliary osteoma NOT_TRANSLATED +HP:0025027 Osteomatosis NOT_TRANSLATED +HP:0025030 Degenerative enteric neuropathy NOT_TRANSLATED +HP:0025038 Testicular abscess NOT_TRANSLATED +HP:0025039 Basal ganglia oedema NOT_TRANSLATED +HP:0025039 Edema of the basal ganglia NOT_TRANSLATED +HP:0025039 Oedema of the basal ganglia NOT_TRANSLATED +HP:0025040 Edema of the thalamus NOT_TRANSLATED +HP:0025040 Oedema of the thalamus NOT_TRANSLATED +HP:0025040 Thalamic oedema NOT_TRANSLATED +HP:0025045 Abnormal lactate level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025046 Reduced brain lactate level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025047 Abnormal brain choline level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025048 Reduced brain choline level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025049 Abnormal brain creatine level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025050 Elevated brain creatine level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025051 Low brain creatine phosphate NOT_TRANSLATED +HP:0025051 Reduced brain creatine level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025052 Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025053 Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy NOT_TRANSLATED +HP:0025058 Atrophy of the hypothalamus NOT_TRANSLATED +HP:0025060 Multilocular splenic abscess NOT_TRANSLATED +HP:0025061 Solitary splenic abscess NOT_TRANSLATED +HP:0025061 Unilocular splenic abscess NOT_TRANSLATED +HP:0025062 Geophagy NOT_TRANSLATED +HP:0025064 Thalamic haemorrhage NOT_TRANSLATED +HP:0025065 Abnormal MCV NOT_TRANSLATED +HP:0025065 Abnormal erythrocyte volume NOT_TRANSLATED +HP:0025066 Decreased MCV NOT_TRANSLATED +HP:0025066 Microcytosis NOT_TRANSLATED +HP:0025066 Reduced erythrocyte volume NOT_TRANSLATED +HP:0025069 Comitant strabismus NOT_TRANSLATED +HP:0025072 Increased U wave amplitude NOT_TRANSLATED +HP:0025079 Pancreas abscess NOT_TRANSLATED +HP:0025082 Abnormal cutaneous elastic fibre morphology NOT_TRANSLATED +HP:0025084 Follicular pustule NOT_TRANSLATED +HP:0025085 Blood in stool NOT_TRANSLATED +HP:0025085 Bloody bowel movement NOT_TRANSLATED +HP:0025085 Bloody diarrhoea NOT_TRANSLATED +HP:0025085 Bloody stool NOT_TRANSLATED +HP:0025086 Bloody mucoid diarrhoea NOT_TRANSLATED +HP:0025089 Faecal vomiting NOT_TRANSLATED +HP:0025089 Fecal vomiting NOT_TRANSLATED +HP:0025089 Stercoraceous vomiting NOT_TRANSLATED +HP:0025089 Vomiting faecal matter NOT_TRANSLATED +HP:0025089 Vomiting fecal matter NOT_TRANSLATED +HP:0025092 Acanthosis NOT_TRANSLATED +HP:0025092 Acanthotic epidermis NOT_TRANSLATED +HP:0025092 Thickening of upper layer of skin NOT_TRANSLATED +HP:0025093 Peripapillary exudation NOT_TRANSLATED +HP:0025097 Blepharoclonus NOT_TRANSLATED +HP:0025097 Eyelid myoclonia NOT_TRANSLATED +HP:0025098 Hypothalamic dysgenesis NOT_TRANSLATED +HP:0025099 Thalamic dysgenesis NOT_TRANSLATED +HP:0025100 Abnormal morphology of the hippocampus NOT_TRANSLATED +HP:0025100 Abnormality of hippocampus morphology NOT_TRANSLATED +HP:0025101 Hippocampal dysgenesis NOT_TRANSLATED +HP:0025102 Basal ganglia dysgenesis NOT_TRANSLATED +HP:0025105 Naevus anaemicus NOT_TRANSLATED +HP:0025109 Reduced erythrocyte pyruvate kinase activity NOT_TRANSLATED +HP:0025112 Noise sensitivity NOT_TRANSLATED +HP:0025115 Colloid bodies NOT_TRANSLATED +HP:0025115 Colloid bodies of Civatte NOT_TRANSLATED +HP:0025115 Cytoid bodies NOT_TRANSLATED +HP:0025115 Hyaline bodies NOT_TRANSLATED +HP:0025116 Foetal distress NOT_TRANSLATED +HP:0025117 Flattened rete pegs NOT_TRANSLATED +HP:0025117 Flattened rete ridges NOT_TRANSLATED +HP:0025122 Sawtoothed acanthosis NOT_TRANSLATED +HP:0025124 Enamel with tendency to chip NOT_TRANSLATED +HP:0025124 Spontaneous tooth fracture NOT_TRANSLATED +HP:0025127 Solar keratosis NOT_TRANSLATED +HP:0025130 Lactase deficiency NOT_TRANSLATED +HP:0025131 Swelling of fingers NOT_TRANSLATED +HP:0025131 Swollen finger NOT_TRANSLATED +HP:0025131 Swollen fingers NOT_TRANSLATED +HP:0025132 Abnormal circulating oestrogen level NOT_TRANSLATED +HP:0025132 Abnormal estrogen level NOT_TRANSLATED +HP:0025132 Abnormal oestrogen level NOT_TRANSLATED +HP:0025134 Increased estradiol level NOT_TRANSLATED +HP:0025134 Increased serum oestradiol NOT_TRANSLATED +HP:0025141 Gingival calcifications NOT_TRANSLATED +HP:0025144 Shuddering NOT_TRANSLATED +HP:0025145 Rigours NOT_TRANSLATED +HP:0025147 Beaten metal macular appearance NOT_TRANSLATED +HP:0025147 Beaten-bronze macular appearance NOT_TRANSLATED +HP:0025147 Beaten-bronze macular sheen NOT_TRANSLATED +HP:0025149 Autonomic visceral myopathy NOT_TRANSLATED +HP:0025149 Degenerative enteric myopathy NOT_TRANSLATED +HP:0025152 Abnormal visual behavior for age NOT_TRANSLATED +HP:0025152 Abnormal visual behaviour for age NOT_TRANSLATED +HP:0025152 Poor visual behaviour for age NOT_TRANSLATED +HP:0025154 Collateral biliary circulation NOT_TRANSLATED +HP:0025154 Collateral biliary veins NOT_TRANSLATED +HP:0025156 Dependency on IV nutrition NOT_TRANSLATED +HP:0025159 Hypo-autofluorescent retinal lesion NOT_TRANSLATED +HP:0025164 Increased number of elastic fibres in the dermis NOT_TRANSLATED +HP:0025165 Clumping of elastic fibres in the dermis NOT_TRANSLATED +HP:0025166 Thickened elastic fibres in the dermis NOT_TRANSLATED +HP:0025167 Fragmented elastic fibres in the dermis NOT_TRANSLATED +HP:0025170 Glioneuronal tumor NOT_TRANSLATED +HP:0025170 Glioneuronal tumour NOT_TRANSLATED +HP:0025170 Neuronal and mixed neuronal-glial tumor NOT_TRANSLATED +HP:0025170 Neuronal and mixed neuronal-glial tumour NOT_TRANSLATED +HP:0025170 Neuronal/glioneuronal neoplasm of the CNS NOT_TRANSLATED +HP:0025171 Rosette-forming glioneuronal neoplasm NOT_TRANSLATED +HP:0025171 Rosette-forming glioneuronal tumor of the fourth ventricle NOT_TRANSLATED +HP:0025171 Rosette-forming glioneuronal tumour NOT_TRANSLATED +HP:0025171 Rosette-forming glioneuronal tumour of the fourth ventricle NOT_TRANSLATED +HP:0025175 Honeycomb cysts NOT_TRANSLATED +HP:0025175 Honeycombing NOT_TRANSLATED +HP:0025178 Subpleural scarring NOT_TRANSLATED +HP:0025179 GGO NOT_TRANSLATED +HP:0025179 Ground glass opacities NOT_TRANSLATED +HP:0025179 Ground-glass opacification on pulmonary HRCT NOT_TRANSLATED +HP:0025180 Centrilobular groundglass opacification NOT_TRANSLATED +HP:0025180 Centrilobular groundglass opacity NOT_TRANSLATED +HP:0025182 Localised area of pendulous skin NOT_TRANSLATED +HP:0025186 Marcus Gunn jaw-winking syndrome NOT_TRANSLATED +HP:0025186 Pterygoid-levator synkinesis NOT_TRANSLATED +HP:0025186 Trigemino-oculomotor synkinesis NOT_TRANSLATED +HP:0025190 Bilateral tonic-clonic seizure with generalised onset NOT_TRANSLATED +HP:0025190 Generalised tonic-clonic seizure without focal onset NOT_TRANSLATED +HP:0025190 Generalised tonic-clonic seizure without partial onset NOT_TRANSLATED +HP:0025190 Generalised tonic-clonic seizures without focal onset NOT_TRANSLATED +HP:0025190 Generalised-onset tonic-clonic seizure NOT_TRANSLATED +HP:0025190 Generalized tonic-clonic seizure without focal onset NOT_TRANSLATED +HP:0025190 Generalized tonic-clonic seizure without partial onset NOT_TRANSLATED +HP:0025190 Generalized tonic-clonic seizures without focal onset NOT_TRANSLATED +HP:0025190 Generalized-onset tonic-clonic seizure NOT_TRANSLATED +HP:0025190 Primarily generalised tonic-clonic seizures NOT_TRANSLATED +HP:0025190 Primarily generalized tonic-clonic seizures NOT_TRANSLATED +HP:0025190 Primary generalised tonic-clonic seizure NOT_TRANSLATED +HP:0025190 Primary generalised tonic-clonic seizures NOT_TRANSLATED +HP:0025190 Primary generalized tonic-clonic seizure NOT_TRANSLATED +HP:0025190 Primary generalized tonic-clonic seizures NOT_TRANSLATED +HP:0025193 Bochdalek hernia NOT_TRANSLATED +HP:0025194 Morgagni hernia NOT_TRANSLATED +HP:0025195 Central hernia NOT_TRANSLATED +HP:0025197 Digital fibrous tumor of Reye NOT_TRANSLATED +HP:0025197 Digital fibrous tumour of Reye NOT_TRANSLATED +HP:0025197 Infantile digital fibroma NOT_TRANSLATED +HP:0025197 Infantile digital fibromatosis NOT_TRANSLATED +HP:0025200 Muscle fibre actin filament accumulation NOT_TRANSLATED +HP:0025201 Abnormal apolipoprotein level NOT_TRANSLATED +HP:0025202 Elevated apolipoprotein A-IV level NOT_TRANSLATED +HP:0025203 Palm tree sign NOT_TRANSLATED +HP:0025205 Breastfeeding triggered symptoms NOT_TRANSLATED +HP:0025205 Triggered by breastfeeding NOT_TRANSLATED +HP:0025206 Cold triggered symptoms NOT_TRANSLATED +HP:0025206 Triggered by cold temperature NOT_TRANSLATED +HP:0025207 Dehydration triggered symptoms NOT_TRANSLATED +HP:0025208 Carbohydrate ingestion triggered symptoms NOT_TRANSLATED +HP:0025209 Trigged by fruit sugar NOT_TRANSLATED +HP:0025211 Ethanol ingestion triggered symptoms NOT_TRANSLATED +HP:0025211 Triggered by alcohol ingestion NOT_TRANSLATED +HP:0025212 Fasting triggered attacks NOT_TRANSLATED +HP:0025212 Fasting triggered symptoms NOT_TRANSLATED +HP:0025213 Triggered by ingestion of lactose-containing milk NOT_TRANSLATED +HP:0025214 Heat triggered symptoms NOT_TRANSLATED +HP:0025215 Febrile illness triggered symptoms NOT_TRANSLATED +HP:0025215 Triggered by fever NOT_TRANSLATED +HP:0025216 Heavy meal triggered symptoms NOT_TRANSLATED +HP:0025216 Triggered by overeating NOT_TRANSLATED +HP:0025217 High-fat diet triggered symptoms NOT_TRANSLATED +HP:0025218 Hyperventilation triggered symptoms NOT_TRANSLATED +HP:0025219 Triggered by immunisation NOT_TRANSLATED +HP:0025219 Triggered by immunization NOT_TRANSLATED +HP:0025219 Vaccination triggered symptoms NOT_TRANSLATED +HP:0025220 Menstruation triggered symptoms NOT_TRANSLATED +HP:0025220 Triggered by monthly period NOT_TRANSLATED +HP:0025220 Triggered by period NOT_TRANSLATED +HP:0025221 Pregnancy triggered symptoms NOT_TRANSLATED +HP:0025222 Sleep deprivation triggered symptoms NOT_TRANSLATED +HP:0025223 Smoking triggered symptoms NOT_TRANSLATED +HP:0025223 Triggered by cigarette consumption NOT_TRANSLATED +HP:0025223 Triggered by tobacco use NOT_TRANSLATED +HP:0025224 Sodium ingestion triggered symptoms NOT_TRANSLATED +HP:0025224 Sodium intake triggered attacks NOT_TRANSLATED +HP:0025224 Triggered by Na ingestion NOT_TRANSLATED +HP:0025224 Triggered by Na+ ingestion NOT_TRANSLATED +HP:0025224 Triggered by salt ingestion NOT_TRANSLATED +HP:0025224 Triggered by sodium intake NOT_TRANSLATED +HP:0025225 Sound triggered symptoms NOT_TRANSLATED +HP:0025226 Stress triggered symptoms NOT_TRANSLATED +HP:0025227 Excitement triggered symptoms NOT_TRANSLATED +HP:0025227 Triggered by startle NOT_TRANSLATED +HP:0025228 Kinesigenic NOT_TRANSLATED +HP:0025228 Sudden movement triggered symptoms NOT_TRANSLATED +HP:0025229 Vestibular stimulation triggered attacks NOT_TRANSLATED +HP:0025229 Vestibular stimulation triggered symptoms NOT_TRANSLATED +HP:0025230 Teninitis NOT_TRANSLATED +HP:0025231 Abnormality of synovial bursa morphology NOT_TRANSLATED +HP:0025235 NREM parasomnia NOT_TRANSLATED +HP:0025236 Sleep walking NOT_TRANSLATED +HP:0025239 Subhyaloid haemorrhage NOT_TRANSLATED +HP:0025239 Subhyaloid heme NOT_TRANSLATED +HP:0025240 Preretinal haemorrhage NOT_TRANSLATED +HP:0025240 Preretinal heme NOT_TRANSLATED +HP:0025241 Feathered retinal heme NOT_TRANSLATED +HP:0025241 Flame-shaped retinal haemorrhage NOT_TRANSLATED +HP:0025241 Linear retina heme NOT_TRANSLATED +HP:0025242 Dot-and-blot retinal haemorrhage NOT_TRANSLATED +HP:0025242 Round retinal heme NOT_TRANSLATED +HP:0025243 Subretinal haemorrhage NOT_TRANSLATED +HP:0025243 Subretinal heme NOT_TRANSLATED +HP:0025244 Subretinal pigment epithelium haemorrhage NOT_TRANSLATED +HP:0025246 Pilar cyst NOT_TRANSLATED +HP:0025250 Whitehead NOT_TRANSLATED +HP:0025251 Blackhead NOT_TRANSLATED +HP:0025252 Annulus migrans NOT_TRANSLATED +HP:0025252 Benign migratory glossitis NOT_TRANSLATED +HP:0025252 Glossitis areata exfoliativa NOT_TRANSLATED +HP:0025252 Lingual erythema migrans NOT_TRANSLATED +HP:0025252 Wandering rash of the tongue NOT_TRANSLATED +HP:0025254 Improved by NOT_TRANSLATED +HP:0025255 Pregnancy relieves symptoms NOT_TRANSLATED +HP:0025256 Fever improves condition NOT_TRANSLATED +HP:0025256 Heat improves condition NOT_TRANSLATED +HP:0025256 Heat improves symptom NOT_TRANSLATED +HP:0025258 Neck stiffness NOT_TRANSLATED +HP:0025259 Elbow stiffness NOT_TRANSLATED +HP:0025260 Wrist stiffness NOT_TRANSLATED +HP:0025261 Finger stiffness NOT_TRANSLATED +HP:0025262 Hip stiffness NOT_TRANSLATED +HP:0025263 Knee stiffness NOT_TRANSLATED +HP:0025264 Ankle stiffness NOT_TRANSLATED +HP:0025265 Toe stiffness NOT_TRANSLATED +HP:0025267 Snore NOT_TRANSLATED +HP:0025267 Snores NOT_TRANSLATED +HP:0025267 Snoring symptoms NOT_TRANSLATED +HP:0025268 Stammering NOT_TRANSLATED +HP:0025270 Abnormality of esophagus physiology NOT_TRANSLATED +HP:0025270 Abnormality of oesophagus physiology NOT_TRANSLATED +HP:0025270 Functional abnormality of the esophagus NOT_TRANSLATED +HP:0025270 Functional abnormality of the oesophagus NOT_TRANSLATED +HP:0025272 Chloasma NOT_TRANSLATED +HP:0025272 Facial melanosis NOT_TRANSLATED +HP:0025274 Mature cystic ovarian teratoma NOT_TRANSLATED +HP:0025282 Dull pain NOT_TRANSLATED +HP:0025285 Exacerbated by NOT_TRANSLATED +HP:0025286 Aggravated by exercise NOT_TRANSLATED +HP:0025286 Aggravated by exertion NOT_TRANSLATED +HP:0025286 Worse with activity NOT_TRANSLATED +HP:0025286 Worsened by activity NOT_TRANSLATED +HP:0025289 Swollen lymph nodes in the neck NOT_TRANSLATED +HP:0025294 Radicular NOT_TRANSLATED +HP:0025300 Butterfly rash NOT_TRANSLATED +HP:0025300 Cheekbone rash NOT_TRANSLATED +HP:0025303 Now and then NOT_TRANSLATED +HP:0025304 Cyclic NOT_TRANSLATED +HP:0025304 Cyclical NOT_TRANSLATED +HP:0025309 Irregular pupil NOT_TRANSLATED +HP:0025318 Ovarian epithelial cancer NOT_TRANSLATED +HP:0025320 Fluorescein leakage NOT_TRANSLATED +HP:0025321 Liver copper accumulation NOT_TRANSLATED +HP:0025325 Medial thinning of eyebrow NOT_TRANSLATED +HP:0025326 Retinal artery occlusion NOT_TRANSLATED +HP:0025328 Antepartum haemorrhage NOT_TRANSLATED +HP:0025328 Prepartum haemorrhage NOT_TRANSLATED +HP:0025328 Prepartum hemorrhage NOT_TRANSLATED +HP:0025329 Anti-GAD antibody positivity NOT_TRANSLATED +HP:0025330 Downgaze paresis NOT_TRANSLATED +HP:0025330 Supranuclear downgaze palsy NOT_TRANSLATED +HP:0025331 Supranuclear upgaze palsy NOT_TRANSLATED +HP:0025331 Upgaze paresis NOT_TRANSLATED +HP:0025332 Abnormality of the cortex of foot bones NOT_TRANSLATED +HP:0025334 Emotion triggered symptoms NOT_TRANSLATED +HP:0025337 Red eyes NOT_TRANSLATED +HP:0025338 Ciliary limbus NOT_TRANSLATED +HP:0025338 Circumlimbal hyperaemia NOT_TRANSLATED +HP:0025339 Superficial episcleral hypaeremia NOT_TRANSLATED +HP:0025340 Deep episcleral hyperaemia NOT_TRANSLATED +HP:0025345 Abnormality of circulating B2M level NOT_TRANSLATED +HP:0025345 Abnormality of circulating beta2 microglobulin level NOT_TRANSLATED +HP:0025345 Abnormality of circulating beta2-m level NOT_TRANSLATED +HP:0025345 Abnormality of circulating beta2m level NOT_TRANSLATED +HP:0025346 Elevated circulating beta-2-microglobulin level NOT_TRANSLATED +HP:0025347 Reduced circulating beta-2-microglobulin level NOT_TRANSLATED +HP:0025348 Abnormality of the corneal limbus NOT_TRANSLATED +HP:0025349 Limbal oedema NOT_TRANSLATED +HP:0025351 Recurrent interdigital tinea NOT_TRANSLATED +HP:0025352 Autosomal dominant germline de novo mutation NOT_TRANSLATED +HP:0025353 Anti-MND antibodies NOT_TRANSLATED +HP:0025357 Fragmentary myoclonus NOT_TRANSLATED +HP:0025358 Ectropion uveae NOT_TRANSLATED +HP:0025359 Polygonal calices NOT_TRANSLATED +HP:0025359 Polygonal-shaped calices NOT_TRANSLATED +HP:0025362 Hypoplasia of the medullary pyramids NOT_TRANSLATED +HP:0025363 Endocapillary hypercellularity NOT_TRANSLATED +HP:0025364 Extracapillary glomerular hypercellularity NOT_TRANSLATED +HP:0025364 Extracapillary hypercellularity NOT_TRANSLATED +HP:0025368 Abnormality of growth plate morphology NOT_TRANSLATED +HP:0025372 Has loud snoring NOT_TRANSLATED +HP:0025372 Have loud snoring NOT_TRANSLATED +HP:0025372 Heavy snoring NOT_TRANSLATED +HP:0025372 Snores loudly NOT_TRANSLATED +HP:0025376 Glutamine high in urine NOT_TRANSLATED +HP:0025376 Glutaminuria NOT_TRANSLATED +HP:0025377 Exertion triggered symptoms NOT_TRANSLATED +HP:0025377 Triggered by physical exercise NOT_TRANSLATED +HP:0025379 Anti-TPO antibody positivity NOT_TRANSLATED +HP:0025379 TPOAbs NOT_TRANSLATED +HP:0025380 Increased serum androstenedione NOT_TRANSLATED +HP:0025383 Buffalo hump NOT_TRANSLATED +HP:0025387 Pill rolling NOT_TRANSLATED +HP:0025389 Pulmonary interstitiatial HRCT abnormality NOT_TRANSLATED +HP:0025391 Crazy paving pattern on pulmonary HRCT NOT_TRANSLATED +HP:0025391 Crazy-paving pattern NOT_TRANSLATED +HP:0025396 Black lung pattern on pulmonary HRCT NOT_TRANSLATED +HP:0025401 Staring eyes NOT_TRANSLATED +HP:0025405 Instability of ocular fixation NOT_TRANSLATED +HP:0025406 Lack of energy and strength NOT_TRANSLATED +HP:0025406 Prostration NOT_TRANSLATED +HP:0025406 Weakness NOT_TRANSLATED +HP:0025407 Urethrorectal fistula NOT_TRANSLATED +HP:0025408 Splenic lesion NOT_TRANSLATED +HP:0025418 Necrosis of the kidney cortex NOT_TRANSLATED +HP:0025419 Pulmonary pneumatocoele NOT_TRANSLATED +HP:0025420 Diffuse alveolar haemorrhage NOT_TRANSLATED +HP:0025426 Abnormality of the bronchi NOT_TRANSLATED +HP:0025434 Reduced CH50 NOT_TRANSLATED +HP:0025435 Increased lactate dehydrogenase level NOT_TRANSLATED +HP:0025436 Elevated serum 21-hydroxyprogesterone NOT_TRANSLATED +HP:0025436 Elevated serum deoxycorticosterone NOT_TRANSLATED +HP:0025441 Calcification of the Achilles tendon NOT_TRANSLATED +HP:0025444 Decrease in amygdala volume NOT_TRANSLATED +HP:0025448 Anteriorly displaced papillary muscles NOT_TRANSLATED +HP:0025449 Apically displaced papillary muscles NOT_TRANSLATED +HP:0025451 Testicular adrenal rest tumour NOT_TRANSLATED +HP:0025454 Abnormal CSF metabolite level NOT_TRANSLATED +HP:0025454 Abnormal cerebrospinal fluid metabolite concentration NOT_TRANSLATED +HP:0025455 Decreased CSF 5-HIAA NOT_TRANSLATED +HP:0025455 Low CSF 5-HIAA NOT_TRANSLATED +HP:0025455 Low CSF 5-hydroxyindolacetic acid NOT_TRANSLATED +HP:0025456 Abnormal CSF protein level NOT_TRANSLATED +HP:0025457 Decreased CSF protein NOT_TRANSLATED +HP:0025457 Decreased cerebrospinal fluid total protein NOT_TRANSLATED +HP:0025457 Hypoproteinorrhachia NOT_TRANSLATED +HP:0025457 Low CSF total protein NOT_TRANSLATED +HP:0025458 Low CSF albumin NOT_TRANSLATED +HP:0025460 High myo-inositol in brain by MRS NOT_TRANSLATED +HP:0025464 Increased ROS production NOT_TRANSLATED +HP:0025464 Oxidative stress NOT_TRANSLATED +HP:0025474 Violaceous plaque NOT_TRANSLATED +HP:0025478 Silent atrium NOT_TRANSLATED +HP:0025490 Intramyocardial coronary artery course NOT_TRANSLATED +HP:0025497 Coronary artery vasospasm NOT_TRANSLATED +HP:0025498 Aceruloplasminaemia NOT_TRANSLATED +HP:0025499 Obesity grade 1 NOT_TRANSLATED +HP:0025500 Obesity grade 2 NOT_TRANSLATED +HP:0025501 Obesity grade 3 NOT_TRANSLATED +HP:0025506 Anomalous coronary artery with aortic origin and course between the great arteries NOT_TRANSLATED +HP:0025507 Yellow-orange papule NOT_TRANSLATED +HP:0025508 Gottron papules NOT_TRANSLATED +HP:0025510 Speckled lentiginous Nevus NOT_TRANSLATED +HP:0025512 Flesh-colored papule NOT_TRANSLATED +HP:0025514 Morning glory disc anomaly NOT_TRANSLATED +HP:0025514 Morning glory optic disc NOT_TRANSLATED +HP:0025517 Small hippocampus NOT_TRANSLATED +HP:0025517 Underdeveloped hippocampus NOT_TRANSLATED +HP:0025519 Biliary hamartoma NOT_TRANSLATED +HP:0025519 Multiple bile duct hamartomas NOT_TRANSLATED +HP:0025519 Von Meyenburg complexes NOT_TRANSLATED +HP:0025520 Cutaneous calcification NOT_TRANSLATED +HP:0025524 Palmoplantar psoriasis NOT_TRANSLATED +HP:0025526 Erythemato-squamous plaque NOT_TRANSLATED +HP:0025526 Erythematosquamous plaque NOT_TRANSLATED +HP:0025526 Psoriatic-like lesion NOT_TRANSLATED +HP:0025527 Serpiginous eruption NOT_TRANSLATED +HP:0025530 Xanthoma palmare striatum NOT_TRANSLATED +HP:0025530 Xanthoma striatum palmare NOT_TRANSLATED +HP:0025534 Melanosis oculi NOT_TRANSLATED +HP:0025534 Ocular melanosis NOT_TRANSLATED +HP:0025537 Plantar oedema NOT_TRANSLATED +HP:0025538 Palmar oedema NOT_TRANSLATED +HP:0025546 Abnormal MCH NOT_TRANSLATED +HP:0025546 Abnormal MCHC NOT_TRANSLATED +HP:0025546 Abnormal mean corpuscular Hb concentration NOT_TRANSLATED +HP:0025546 Abnormal mean corpuscular haemoglobin NOT_TRANSLATED +HP:0025546 Abnormal mean corpuscular haemoglobin concentration NOT_TRANSLATED +HP:0025547 Decreased MCH NOT_TRANSLATED +HP:0025547 Decreased MCHC NOT_TRANSLATED +HP:0025547 Decreased mean corpuscular Hb concentration NOT_TRANSLATED +HP:0025547 Decreased mean corpuscular haemoglobin NOT_TRANSLATED +HP:0025547 Decreased mean corpuscular haemoglobin concentration NOT_TRANSLATED +HP:0025548 Increased MCH NOT_TRANSLATED +HP:0025548 Increased MCHC NOT_TRANSLATED +HP:0025548 Increased mean corpuscular Hb concentration NOT_TRANSLATED +HP:0025548 Increased mean corpuscular haemoglobin NOT_TRANSLATED +HP:0025548 Increased mean corpuscular haemoglobin concentration NOT_TRANSLATED +HP:0025549 Eccentric fixation NOT_TRANSLATED +HP:0025550 Increased level of ribitol in serum NOT_TRANSLATED +HP:0025551 Optic pathway misrouting NOT_TRANSLATED +HP:0025551 Visual pathway misrouting NOT_TRANSLATED +HP:0025553 Raccoon eyes NOT_TRANSLATED +HP:0025570 Choroidal hyperpermeability NOT_TRANSLATED +HP:0025572 Lacrimal punctum stenosis NOT_TRANSLATED +HP:0025572 Stenosis of the lacrimal punctum NOT_TRANSLATED +HP:0025574 Macular haemorrhage NOT_TRANSLATED +HP:0025581 Foveal haemorrhage NOT_TRANSLATED +HP:0025582 Sub-macular haemorrhage NOT_TRANSLATED +HP:0025582 Sub-macular hemorrhage NOT_TRANSLATED +HP:0025582 Submacular haemorrhage NOT_TRANSLATED +HP:0025592 Superior oblique palsy NOT_TRANSLATED +HP:0025595 Under-depression in adduction NOT_TRANSLATED +HP:0025598 Inferior oblique palsy NOT_TRANSLATED +HP:0025605 Eyelid lag NOT_TRANSLATED +HP:0025605 Lid lag NOT_TRANSLATED +HP:0025605 von Graefe sign NOT_TRANSLATED +HP:0025610 Meibomian gland disease NOT_TRANSLATED +HP:0025610 Meibomian gland dysfunction NOT_TRANSLATED +HP:0025613 Affective seizure NOT_TRANSLATED +HP:0025613 Emotional seizure NOT_TRANSLATED +HP:0025613 Focal affective seizure NOT_TRANSLATED +HP:0025613 Partial emotional seizure NOT_TRANSLATED +HP:0025620 Abnormal proportion of central memory CD4+, alpha-beta T cells NOT_TRANSLATED +HP:0025623 Abnormal proportion of CD4-positive effector memory cells NOT_TRANSLATED +HP:0025623 Abnormal proportion of effector memory CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0025624 Decreased proportion of CD4+ effector memory T cells NOT_TRANSLATED +HP:0025624 Decreased proportion of CD4-positive effector memory T cells NOT_TRANSLATED +HP:0025624 Decreased proportion of effector memory CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0025625 Increased proportion of CD4+ effector memory T cells NOT_TRANSLATED +HP:0025625 Increased proportion of CD4-positive effector memory T cells NOT_TRANSLATED +HP:0025625 Increased proportion of effector CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0025635 Polyp of the ureter NOT_TRANSLATED +HP:0025635 Ureter polyp NOT_TRANSLATED +HP:0025636 Endometrial inflammation NOT_TRANSLATED +HP:0025636 Inflammation of the inner lining of the uterus NOT_TRANSLATED +HP:0025637 Angiospasm NOT_TRANSLATED +HP:0025637 Blood vessel spasm NOT_TRANSLATED +HP:0025637 Vascular spasm NOT_TRANSLATED +HP:0025643 Perineural cyst NOT_TRANSLATED +HP:0025644 Fixation-off sensitivity NOT_TRANSLATED +HP:0025647 SSNS NOT_TRANSLATED +HP:0025650 SDNS NOT_TRANSLATED +HP:0025653 Abnormal placental pentration beyond the uterine wall NOT_TRANSLATED +HP:0025660 Arnold-Chiari type II malformation NOT_TRANSLATED +HP:0025661 Arnold-Chiari type III malformation NOT_TRANSLATED +HP:0025673 Septated ascites NOT_TRANSLATED +HP:0025675 Fetal PAD narrowing-closure NOT_TRANSLATED +HP:0025675 Fetal PDA narrowing-closure NOT_TRANSLATED +HP:0025675 Fetal arterial duct narrowing-closure NOT_TRANSLATED +HP:0025675 Fetal ductus arteriosus narrowing-closure NOT_TRANSLATED +HP:0025675 Idiopathic constriction of the fetal ductus arteriosus NOT_TRANSLATED +HP:0025675 PCDA NOT_TRANSLATED +HP:0025679 Discitis NOT_TRANSLATED +HP:0025680 CMAP facilitation NOT_TRANSLATED +HP:0025686 Abnormal Abeta 40 level NOT_TRANSLATED +HP:0025686 Abnormal beta amyloid 40 level NOT_TRANSLATED +HP:0025690 FIUVV NOT_TRANSLATED +HP:0025690 Fetal umbilical vein dilatation NOT_TRANSLATED +HP:0025693 Pituitary gland macroadenoma NOT_TRANSLATED +HP:0025697 Cellular airway casts NOT_TRANSLATED +HP:0025697 Diphtheroid membranes NOT_TRANSLATED +HP:0025697 Pseudomembranes NOT_TRANSLATED +HP:0025697 Type I airway casts NOT_TRANSLATED +HP:0025698 Acellular airway casts NOT_TRANSLATED +HP:0025698 Type II airway casts NOT_TRANSLATED +HP:0025699 Perisylvian hypermetabolism in FDG PET NOT_TRANSLATED +HP:0025702 Trans-mantle schizencephaly NOT_TRANSLATED +HP:0025706 Absence of fetal nasal bone NOT_TRANSLATED +HP:0025706 Unossified nasal bone NOT_TRANSLATED +HP:0025711 Convergence retraction nystagmus NOT_TRANSLATED +HP:0025712 Amnion-chorion separation NOT_TRANSLATED +HP:0025713 Dystrophic neurite NOT_TRANSLATED +HP:0025717 Autophagic material in muscle biopsy NOT_TRANSLATED +HP:0025718 Hyperechoic muscle NOT_TRANSLATED +HP:0025718 Muscle ultrasound hyperechogenicity NOT_TRANSLATED +HP:0025724 Greasy, thick vernix caseosa-like scale NOT_TRANSLATED +HP:0025730 Fetal atrial septal dilatation NOT_TRANSLATED +HP:0025730 Redundant septum primum flap NOT_TRANSLATED +HP:0030001 Eyelids stay open NOT_TRANSLATED +HP:0030001 Inability to close the eyelids NOT_TRANSLATED +HP:0030002 Eyelids stay open at night NOT_TRANSLATED +HP:0030002 Inability to close the eyelids at night NOT_TRANSLATED +HP:0030004 Eyelids stay open due to scarring NOT_TRANSLATED +HP:0030004 Inability to close the eyelids due to scarring NOT_TRANSLATED +HP:0030005 Increased capillary permeability NOT_TRANSLATED +HP:0030005 Systemic capillary leak syndrome NOT_TRANSLATED +HP:0030006 Single fibre EMG abnormality NOT_TRANSLATED +HP:0030008 Absent cervix NOT_TRANSLATED +HP:0030008 Aplasia of the cervix NOT_TRANSLATED +HP:0030008 Cervical aplasia NOT_TRANSLATED +HP:0030009 Incompetent cervix NOT_TRANSLATED +HP:0030012 Abnormal female genital system physiology NOT_TRANSLATED +HP:0030015 Female orgasmic disorder NOT_TRANSLATED +HP:0030017 Myalgia of pelvic floor NOT_TRANSLATED +HP:0030017 Pelvic floor myalgia NOT_TRANSLATED +HP:0030018 Decreased female sex drive NOT_TRANSLATED +HP:0030019 Increased female sex drive NOT_TRANSLATED +HP:0030022 Constricted ear NOT_TRANSLATED +HP:0030022 Cosman ear NOT_TRANSLATED +HP:0030022 Question mark ears NOT_TRANSLATED +HP:0030024 Accessory Tragus NOT_TRANSLATED +HP:0030024 Extra cartilage in front of the ear NOT_TRANSLATED +HP:0030024 Pretragal Duplication NOT_TRANSLATED +HP:0030027 Abnormality of cartilage of nose NOT_TRANSLATED +HP:0030027 Abnormality of the nasal cartilage NOT_TRANSLATED +HP:0030027 Anomaly of cartilage of nose NOT_TRANSLATED +HP:0030027 Anomaly of nasal cartilage NOT_TRANSLATED +HP:0030027 Deformity of cartilage of nose NOT_TRANSLATED +HP:0030027 Deformity of nasal cartilage NOT_TRANSLATED +HP:0030027 Malformation of cartilage of nose NOT_TRANSLATED +HP:0030027 Malformation of nasal cartilage NOT_TRANSLATED +HP:0030028 Absent cartilage of nose NOT_TRANSLATED +HP:0030028 Agenesis of cartilage of nose NOT_TRANSLATED +HP:0030028 Agenesis of nasal cartilage NOT_TRANSLATED +HP:0030028 Failure of development of cartilage of nose NOT_TRANSLATED +HP:0030028 Failure of development of nasal cartilage NOT_TRANSLATED +HP:0030028 Missing cartilage of nose NOT_TRANSLATED +HP:0030028 Missing nasal cartilage NOT_TRANSLATED +HP:0030029 Spreading of the fingers NOT_TRANSLATED +HP:0030034 Lamellated/basket-woven thickened glomerular basement membranes NOT_TRANSLATED +HP:0030034 Lamellation of the glomerular basement membrane NOT_TRANSLATED +HP:0030035 Struvite kidney stones NOT_TRANSLATED +HP:0030041 Schmorl's nodes NOT_TRANSLATED +HP:0030042 Incomplete maturation of the pubic bone NOT_TRANSLATED +HP:0030043 Partial hip dislocation NOT_TRANSLATED +HP:0030043 Subluxation involving the hip joint NOT_TRANSLATED +HP:0030045 S-shaped calf bone NOT_TRANSLATED +HP:0030047 Abnormality of lateral ventricle NOT_TRANSLATED +HP:0030051 Tiptoe gait NOT_TRANSLATED +HP:0030051 Toe walking NOT_TRANSLATED +HP:0030051 Walking on tiptoes NOT_TRANSLATED +HP:0030052 Freckles in groin region NOT_TRANSLATED +HP:0030053 Indurated skin NOT_TRANSLATED +HP:0030065 Primitive neuroectodermal tumour NOT_TRANSLATED +HP:0030069 Primary CNS lymphoma NOT_TRANSLATED +HP:0030070 Central primitive neuroectodermal tumour NOT_TRANSLATED +HP:0030072 Neoplasm of the paranasal sinuses NOT_TRANSLATED +HP:0030072 Tumor of the paranasal sinuses NOT_TRANSLATED +HP:0030072 Tumour of the paranasal sinuses NOT_TRANSLATED +HP:0030074 Chemodectomas NOT_TRANSLATED +HP:0030082 Abnormal drinking behaviour NOT_TRANSLATED +HP:0030084 Curvature of digit NOT_TRANSLATED +HP:0030084 Permanent curving of the finger NOT_TRANSLATED +HP:0030085 Abnormal CSF lactate level NOT_TRANSLATED +HP:0030086 Hypolactatorachia NOT_TRANSLATED +HP:0030087 Abnormal serum testosterone level NOT_TRANSLATED +HP:0030087 Abnormal testosterone level NOT_TRANSLATED +HP:0030088 High serum testosterone level NOT_TRANSLATED +HP:0030088 High serum testosterone levels NOT_TRANSLATED +HP:0030088 Increased serum testosterone levels NOT_TRANSLATED +HP:0030088 Increased testosterone NOT_TRANSLATED +HP:0030089 Abnormal muscle fibre protein expression NOT_TRANSLATED +HP:0030090 Abnormal muscle fibre merosin expression NOT_TRANSLATED +HP:0030091 Absent merosin staining in muscle biopsy NOT_TRANSLATED +HP:0030091 Absent muscle fiber laminin alpha 2 NOT_TRANSLATED +HP:0030091 Absent muscle fibre laminin alpha 2 NOT_TRANSLATED +HP:0030091 Absent muscle fibre merosin NOT_TRANSLATED +HP:0030092 Reduced muscle fibre merosin NOT_TRANSLATED +HP:0030093 Abnormal muscle fibre laminin beta 1 NOT_TRANSLATED +HP:0030094 Reduced muscle fibre laminin beta 1 NOT_TRANSLATED +HP:0030095 Reduced collagen 6 in muscle NOT_TRANSLATED +HP:0030096 Abnormal muscle fibre dystrophin expression NOT_TRANSLATED +HP:0030098 Reduced dystrophin staining in muscle NOT_TRANSLATED +HP:0030099 Reduced muscle fibre alpha dystroglycan NOT_TRANSLATED +HP:0030100 Abnormal muscle fibre alpha sarcoglycan NOT_TRANSLATED +HP:0030101 Absent muscle fibre alpha sarcoglycan NOT_TRANSLATED +HP:0030102 Reduced muscle fibre alpha sarcoglycan NOT_TRANSLATED +HP:0030103 Abnormal muscle fibre beta sarcoglycan NOT_TRANSLATED +HP:0030104 Abnormal muscle fibre gamma sarcoglycan NOT_TRANSLATED +HP:0030105 Abnormal muscle fibre delta sarcoglycan NOT_TRANSLATED +HP:0030106 Absent muscle fibre beta sarcoglycan NOT_TRANSLATED +HP:0030107 Reduced muscle fibre beta sarcoglycan NOT_TRANSLATED +HP:0030108 Reduced muscle fibre gamma sarcoglycan NOT_TRANSLATED +HP:0030109 Absent muscle fibre gamma sarcoglycan NOT_TRANSLATED +HP:0030110 Absent muscle fibre delta sarcoglycan NOT_TRANSLATED +HP:0030111 Reduced muscle fibre delta sarcoglycan NOT_TRANSLATED +HP:0030112 Abnormal muscle fibre alpha dystroglycan NOT_TRANSLATED +HP:0030113 Abnormal muscle fibre dysferlin NOT_TRANSLATED +HP:0030114 Absent muscle fibre dysferlin NOT_TRANSLATED +HP:0030115 Reduced muscle fibre dysferlin NOT_TRANSLATED +HP:0030116 Abnormal muscle fibre emerin NOT_TRANSLATED +HP:0030117 Absent muscle fibre emerin NOT_TRANSLATED +HP:0030118 Reduced muscle fibre emerin NOT_TRANSLATED +HP:0030119 Abnormal muscle fibre calpain-3 NOT_TRANSLATED +HP:0030120 Absent muscle fibre calpain-3 NOT_TRANSLATED +HP:0030121 Reduced muscle fibre calpain-3 NOT_TRANSLATED +HP:0030122 Reduced muscle fibre perlecan NOT_TRANSLATED +HP:0030123 Abnormal muscle fibre lamin A/C NOT_TRANSLATED +HP:0030124 Reduced muscle fibre lamin A/C NOT_TRANSLATED +HP:0030125 L5 sacralization NOT_TRANSLATED +HP:0030126 Abnormality of the endometrium NOT_TRANSLATED +HP:0030140 Bleeding from mouth NOT_TRANSLATED +HP:0030140 Oral cavity haemorrhage NOT_TRANSLATED +HP:0030140 Oral cavity hemorrhage NOT_TRANSLATED +HP:0030141 Abnormality of hairline at back of head NOT_TRANSLATED +HP:0030143 Borborygmi NOT_TRANSLATED +HP:0030143 Increased bowel sounds NOT_TRANSLATED +HP:0030144 Decreased bowel sounds NOT_TRANSLATED +HP:0030148 Cardiac murmur NOT_TRANSLATED +HP:0030148 Cardiac murmurs NOT_TRANSLATED +HP:0030148 Heart murmurs NOT_TRANSLATED +HP:0030149 Cardiovascular shock NOT_TRANSLATED +HP:0030151 Bile duct inflammation NOT_TRANSLATED +HP:0030153 Bile duct cancer NOT_TRANSLATED +HP:0030154 Gall bladder perforation NOT_TRANSLATED +HP:0030157 Kidney pain NOT_TRANSLATED +HP:0030158 Cervical ectopy NOT_TRANSLATED +HP:0030158 Cervical erosion NOT_TRANSLATED +HP:0030159 Cervical tumor NOT_TRANSLATED +HP:0030159 Cervical tumour NOT_TRANSLATED +HP:0030160 Uterine cervicitis NOT_TRANSLATED +HP:0030160 Uterine cervix inflammation NOT_TRANSLATED +HP:0030164 Jaw pain while chewing NOT_TRANSLATED +HP:0030166 Nocturnal hyperhidrosis NOT_TRANSLATED +HP:0030167 Serum antimitochrondrial antibodies NOT_TRANSLATED +HP:0030168 Dilatation of the superficial abdominal veins NOT_TRANSLATED +HP:0030169 Gastric varices NOT_TRANSLATED +HP:0030173 Increased peripheral myelination NOT_TRANSLATED +HP:0030175 Tomacula NOT_TRANSLATED +HP:0030177 Abnormal nerve conduction study NOT_TRANSLATED +HP:0030178 Abnormality of CNS electrophysiology NOT_TRANSLATED +HP:0030180 Oppenheim sign NOT_TRANSLATED +HP:0030181 Gordon sign NOT_TRANSLATED +HP:0030183 VVOR impairment NOT_TRANSLATED +HP:0030183 Visually enhanced vestibulo-ocular reflex impairment NOT_TRANSLATED +HP:0030185 Dystonia tremor NOT_TRANSLATED +HP:0030186 Essential tremor NOT_TRANSLATED +HP:0030188 Tremor of a body part NOT_TRANSLATED +HP:0030191 Abnormal PNS synaptic transmission NOT_TRANSLATED +HP:0030202 Favourable response of weakness to acetylcholine esterase inhibitors NOT_TRANSLATED +HP:0030203 Unfavourable response of muscle weakness to acetylcholine esterase inhibitors NOT_TRANSLATED +HP:0030205 Increased jitter at single fibre EMG NOT_TRANSLATED +HP:0030205 Increased jitter at single fibre electromyography NOT_TRANSLATED +HP:0030207 Flail chest NOT_TRANSLATED +HP:0030207 Paradoxical breathing NOT_TRANSLATED +HP:0030208 Acetylcholine receptor antibody positivity NOT_TRANSLATED +HP:0030208 Anti-AChR antibody positivity NOT_TRANSLATED +HP:0030209 Ca channel antibody positivity NOT_TRANSLATED +HP:0030209 Ca2+ channel antibody positivity NOT_TRANSLATED +HP:0030210 Anti-MUSK antibodies NOT_TRANSLATED +HP:0030210 Muscle specific kinase antibody positivity NOT_TRANSLATED +HP:0030211 Sluggish pupillary reaction NOT_TRANSLATED +HP:0030212 Compulsive hoarding NOT_TRANSLATED +HP:0030214 Sex addiction NOT_TRANSLATED +HP:0030219 Trouble remembering words NOT_TRANSLATED +HP:0030220 Socially inappropriate behaviour NOT_TRANSLATED +HP:0030223 Perseverative behavior NOT_TRANSLATED +HP:0030223 Perseverative behaviour NOT_TRANSLATED +HP:0030224 Abnormal muscle fibre desmin NOT_TRANSLATED +HP:0030225 Accumulation of muscle fibre desmin NOT_TRANSLATED +HP:0030225 Muscle fiber desmin-reactive inclusion bodies NOT_TRANSLATED +HP:0030225 Muscle fibre desmin-reactive inclusion bodies NOT_TRANSLATED +HP:0030226 Abnormal muscle fibre myotilin NOT_TRANSLATED +HP:0030227 Accumulation of muscle fibre myotilin NOT_TRANSLATED +HP:0030228 Abnormal muscle fibre valosin-containing protein NOT_TRANSLATED +HP:0030229 Accumulation of muscle fibre valosin-containing protein NOT_TRANSLATED +HP:0030230 Central core regions in muscle fibres NOT_TRANSLATED +HP:0030231 Glycogen accumulation in muscle fibre lysosomes NOT_TRANSLATED +HP:0030233 Bethlem phenomenon NOT_TRANSLATED +HP:0030234 Highly elevated CPK NOT_TRANSLATED +HP:0030234 Highly elevated creatine phosphokinase NOT_TRANSLATED +HP:0030234 Highly elevated serum CK NOT_TRANSLATED +HP:0030234 Highly elevated serum CPK NOT_TRANSLATED +HP:0030234 Highly elevated serum phosph-CK NOT_TRANSLATED +HP:0030235 Extremely elevated CPK NOT_TRANSLATED +HP:0030235 Extremely elevated creatine phosphokinase NOT_TRANSLATED +HP:0030235 Extremely elevated phospho-CK serum level NOT_TRANSLATED +HP:0030235 Extremely elevated serum CK level NOT_TRANSLATED +HP:0030235 Extremely high CPK level NOT_TRANSLATED +HP:0030239 Underdeveloped upper arm muscles NOT_TRANSLATED +HP:0030241 Deltoid muscle hypoplasia NOT_TRANSLATED +HP:0030242 Blood clot in portal vein NOT_TRANSLATED +HP:0030243 Blood clot in liver vein NOT_TRANSLATED +HP:0030243 Hepatic venous thrombosis NOT_TRANSLATED +HP:0030244 Maternal fever during pregnancy NOT_TRANSLATED +HP:0030245 Maternal fever during labor NOT_TRANSLATED +HP:0030245 Maternal fever during labour NOT_TRANSLATED +HP:0030247 Blood clot in splanchnic vein NOT_TRANSLATED +HP:0030248 Blood clot in mesentertic vein NOT_TRANSLATED +HP:0030252 Absence of mature B cells NOT_TRANSLATED +HP:0030254 Nail bed haemorrhage NOT_TRANSLATED +HP:0030257 Genitalia, ephelides NOT_TRANSLATED +HP:0030258 Increased genital pigmentation NOT_TRANSLATED +HP:0030258 Penile melanosis NOT_TRANSLATED +HP:0030259 Decreased genital pigmentation NOT_TRANSLATED +HP:0030261 Aphallia NOT_TRANSLATED +HP:0030261 Aplasia of the penis NOT_TRANSLATED +HP:0030261 Penis aplasia NOT_TRANSLATED +HP:0030269 Elevated serum IGF1 NOT_TRANSLATED +HP:0030269 Increased serum IGF1 NOT_TRANSLATED +HP:0030269 Increased serum insulin-like growth factor 1 NOT_TRANSLATED +HP:0030274 Extra scrotum NOT_TRANSLATED +HP:0030275 Abnormal scrotum position NOT_TRANSLATED +HP:0030282 Dorsal rib defect NOT_TRANSLATED +HP:0030284 Triangle shaped tongue NOT_TRANSLATED +HP:0030289 Flattended end part of thigh bone NOT_TRANSLATED +HP:0030290 Absence of sacrum ossification NOT_TRANSLATED +HP:0030293 Irregularity of wide portion of calf bone NOT_TRANSLATED +HP:0030299 Abnormality of wide portion of outermost thighbone NOT_TRANSLATED +HP:0030307 Flared metaphysis of lower limb bone NOT_TRANSLATED +HP:0030308 Flared outermost metaphysis of shankbone NOT_TRANSLATED +HP:0030308 Flared outermost metaphysis of shinbone NOT_TRANSLATED +HP:0030309 Flared outermost wide portion of of calf bone NOT_TRANSLATED +HP:0030310 Dislocated arm joints NOT_TRANSLATED +HP:0030311 Dislocated leg joints NOT_TRANSLATED +HP:0030312 Obliteration of cranial cancellous bone NOT_TRANSLATED +HP:0030318 Angular cheilosis NOT_TRANSLATED +HP:0030318 Angular stomatitis NOT_TRANSLATED +HP:0030318 Commissural cheilitis NOT_TRANSLATED +HP:0030318 Inflammation of corners of the mouth NOT_TRANSLATED +HP:0030318 Inflammation of oral commisures NOT_TRANSLATED +HP:0030318 Red and sore corners of the mouth NOT_TRANSLATED +HP:0030319 Decreased facial muscle strength NOT_TRANSLATED +HP:0030319 Decreased strength of facial muscles NOT_TRANSLATED +HP:0030319 Face weakness NOT_TRANSLATED +HP:0030319 Facial muscle weakness NOT_TRANSLATED +HP:0030319 Facial weakness NOT_TRANSLATED +HP:0030319 Myasthenia of facial muscles NOT_TRANSLATED +HP:0030319 Reduced facial muscle strength NOT_TRANSLATED +HP:0030319 Weakness of face NOT_TRANSLATED +HP:0030321 Abnormality of the vertebral artery NOT_TRANSLATED +HP:0030336 Absence of CD4+CD25+ T regulatory cells NOT_TRANSLATED +HP:0030336 Absence of CD4+CD25+ Tregs NOT_TRANSLATED +HP:0030338 Abnormal circulating gonadotropin level NOT_TRANSLATED +HP:0030339 Decreased circulating gonadotropin level NOT_TRANSLATED +HP:0030341 Decreased circulating follicle stimulating hormone level NOT_TRANSLATED +HP:0030344 Decreased circulating luteinising hormone level NOT_TRANSLATED +HP:0030345 Abnormal circulating luteinizing hormone level NOT_TRANSLATED +HP:0030345 Abnormal luteinizing hormone level NOT_TRANSLATED +HP:0030345 Increased circulating lutropin NOT_TRANSLATED +HP:0030346 Abnormal circulating follicle-stimulating hormone level NOT_TRANSLATED +HP:0030348 Hyperandrogenemia NOT_TRANSLATED +HP:0030348 Increased circulating androgen level NOT_TRANSLATED +HP:0030349 Decreased circulating androgen level NOT_TRANSLATED +HP:0030350 Red-blue papule NOT_TRANSLATED +HP:0030354 Abnormal serum interferon level NOT_TRANSLATED +HP:0030355 Abnormal serum interferon-gamma level NOT_TRANSLATED +HP:0030356 Increased serum interferon-gamma level NOT_TRANSLATED +HP:0030357 Oat cell carcinoma of lung NOT_TRANSLATED +HP:0030357 Oat cell lung cancer NOT_TRANSLATED +HP:0030357 Small cell lung cancer NOT_TRANSLATED +HP:0030358 Non-small cell lung cancer NOT_TRANSLATED +HP:0030361 Abnormality of icosanoid metabolism NOT_TRANSLATED +HP:0030368 Hyperphalangy of index finger NOT_TRANSLATED +HP:0030376 Abnormal proportion of CD19+/CD21low B cells NOT_TRANSLATED +HP:0030377 Increased proportion of CD19+/CD21low B cells NOT_TRANSLATED +HP:0030378 Decreased proportion of CD19+/CD21low B cells NOT_TRANSLATED +HP:0030379 Abnormal proportion of CD19+CD38+IgM+ cells NOT_TRANSLATED +HP:0030380 Decreased proportion of CD19+CD38+IgM+ cells NOT_TRANSLATED +HP:0030381 Increased proportion of CD19+CD38+IgM+ cells NOT_TRANSLATED +HP:0030386 Abnormal proportion of CD19+CD27+IgD- cells NOT_TRANSLATED +HP:0030387 Increased proportion of CD19+CD27+IgD- cells NOT_TRANSLATED +HP:0030388 Decreased proportion of CD19+CD27+IgD- cells NOT_TRANSLATED +HP:0030393 Aggressive papillary middle ear tumor NOT_TRANSLATED +HP:0030393 Aggressive papillary middle ear tumour NOT_TRANSLATED +HP:0030393 Endolymphatic sac tumour NOT_TRANSLATED +HP:0030393 Heffner tumor NOT_TRANSLATED +HP:0030393 Heffner tumour NOT_TRANSLATED +HP:0030393 Low-grade adenocarcinoma of endolymphatic sac origin NOT_TRANSLATED +HP:0030405 Pancreatic endocrine tumour NOT_TRANSLATED +HP:0030408 Pinealoblastoma NOT_TRANSLATED +HP:0030409 Renal urothelial carcinoma NOT_TRANSLATED +HP:0030409 Transitional renal cell carcinoma NOT_TRANSLATED +HP:0030409 renal TCC NOT_TRANSLATED +HP:0030410 Sebaceous carcinoma NOT_TRANSLATED +HP:0030415 Spindle cell carcinoma of the tongue NOT_TRANSLATED +HP:0030416 Neoplasm of the vulva NOT_TRANSLATED +HP:0030416 Tumor of the vulva NOT_TRANSLATED +HP:0030416 Tumour of the vulva NOT_TRANSLATED +HP:0030417 Vulval squamous cell carcinoma NOT_TRANSLATED +HP:0030423 Cyst on spleen NOT_TRANSLATED +HP:0030424 Epididymal cysts NOT_TRANSLATED +HP:0030430 Nerve tumor NOT_TRANSLATED +HP:0030430 Nerve tumour NOT_TRANSLATED +HP:0030430 Pinched nerve NOT_TRANSLATED +HP:0030431 Osteocartilaginous exostoses NOT_TRANSLATED +HP:0030431 Osteochondromas NOT_TRANSLATED +HP:0030436 Fibrofolliculomas NOT_TRANSLATED +HP:0030437 Anal canal tumor NOT_TRANSLATED +HP:0030437 Anal canal tumour NOT_TRANSLATED +HP:0030445 Lung carcinoid tumor NOT_TRANSLATED +HP:0030445 Lung carcinoid tumour NOT_TRANSLATED +HP:0030445 Pulmonary carcinoid tumour NOT_TRANSLATED +HP:0030446 Atypical pulmonary carcinoid tumour NOT_TRANSLATED +HP:0030447 Anaplastic carcinoma of the skin NOT_TRANSLATED +HP:0030447 Cutaneous APUDoma NOT_TRANSLATED +HP:0030447 Merkel cell cancer of the skin NOT_TRANSLATED +HP:0030447 Neuroendocrine carcinoma of the skin NOT_TRANSLATED +HP:0030447 Neuroendocrine tumor of the skin NOT_TRANSLATED +HP:0030447 Neuroendocrine tumour of the skin NOT_TRANSLATED +HP:0030447 Primary small cell carcinoma of the skin NOT_TRANSLATED +HP:0030447 Primary undifferentiated carcinoma of the skin NOT_TRANSLATED +HP:0030448 Soft tissue sarcomas NOT_TRANSLATED +HP:0030454 Abnormal EOG NOT_TRANSLATED +HP:0030456 Abnormality of pattern onset/offset VEP NOT_TRANSLATED +HP:0030457 Abnormal amplitude of pattern onset/offset VEP NOT_TRANSLATED +HP:0030463 Crossed asymmetry of flash visual evoked potentials NOT_TRANSLATED +HP:0030464 Crossed asymmetry of pattern reversal visual evoked potentials NOT_TRANSLATED +HP:0030465 Absent photopic (cone) responses on ERG NOT_TRANSLATED +HP:0030465 non-detectable photopic ERG NOT_TRANSLATED +HP:0030473 Abnormal light adapted flicker electroretinogram NOT_TRANSLATED +HP:0030473 Abnormal light-adapted 30Hz flicker ERG NOT_TRANSLATED +HP:0030473 Abnormal light-adapted 30Hz flicker electroretinogram NOT_TRANSLATED +HP:0030473 Abnormal light-adapted flicker ERG NOT_TRANSLATED +HP:0030495 Abnormality of macular vasculature NOT_TRANSLATED +HP:0030496 Macular exudates NOT_TRANSLATED +HP:0030496 Macular exudation NOT_TRANSLATED +HP:0030499 Lipid accumulation in macula NOT_TRANSLATED +HP:0030503 Juxtafoveal telangiectasia NOT_TRANSLATED +HP:0030503 Parafoveal telangiectasia NOT_TRANSLATED +HP:0030504 Bear track congenital hypertrophy of retinal pigment epithelium NOT_TRANSLATED +HP:0030505 Nummular pigmentation of the retina NOT_TRANSLATED +HP:0030508 Retinal cavernous haemangioma NOT_TRANSLATED +HP:0030509 Retinal racemose haemangioma NOT_TRANSLATED +HP:0030511 Difficulty seeing moving objects NOT_TRANSLATED +HP:0030515 Moderate reduction in visual acuity NOT_TRANSLATED +HP:0030515 Moderate vision loss NOT_TRANSLATED +HP:0030515 Moderate visual impairment NOT_TRANSLATED +HP:0030515 Moderate visual loss NOT_TRANSLATED +HP:0030516 Homonymous hemianopsia NOT_TRANSLATED +HP:0030517 Heteronymous hemianopsia NOT_TRANSLATED +HP:0030518 Congruous hemianopsia NOT_TRANSLATED +HP:0030522 Mild peripheral visual field loss NOT_TRANSLATED +HP:0030525 Moderate peripheral visual field loss NOT_TRANSLATED +HP:0030526 Severe peripheral visual field loss NOT_TRANSLATED +HP:0030527 Very severe peripheral visual field loss NOT_TRANSLATED +HP:0030530 Arc-shaped blind spot NOT_TRANSLATED +HP:0030584 Colour vision test abnormality NOT_TRANSLATED +HP:0030632 Hypo-autofluorescent macular lesion NOT_TRANSLATED +HP:0030637 Cone dysfunction NOT_TRANSLATED +HP:0030637 Cone dysfunction syndrome NOT_TRANSLATED +HP:0030644 Blind spot enlargment NOT_TRANSLATED +HP:0030648 Mid-peripheral NOT_TRANSLATED +HP:0030657 Umbilical cord haematoma NOT_TRANSLATED +HP:0030658 Battledore placenta NOT_TRANSLATED +HP:0030658 Marginal cord insertion NOT_TRANSLATED +HP:0030665 Holmes' tremor NOT_TRANSLATED +HP:0030666 Retinal neovascularisation NOT_TRANSLATED +HP:0030671 Abnormality of the common tendinous ring NOT_TRANSLATED +HP:0030674 Intrauterine onset NOT_TRANSLATED +HP:0030674 Onset in utero NOT_TRANSLATED +HP:0030674 Prenatal onset NOT_TRANSLATED +HP:0030676 Devil ear NOT_TRANSLATED +HP:0030680 Cardiovascular malformations NOT_TRANSLATED +HP:0030683 Vulvovaginitis NOT_TRANSLATED +HP:0030692 Brain tumor NOT_TRANSLATED +HP:0030692 Brain tumour NOT_TRANSLATED +HP:0030693 Pineal parenchymal tumor NOT_TRANSLATED +HP:0030693 Pineal parenchymal tumour NOT_TRANSLATED +HP:0030706 Sublingual cyst NOT_TRANSLATED +HP:0030706 Sublingual ptyalocele NOT_TRANSLATED +HP:0030707 Unilateral pulmonary agenesis NOT_TRANSLATED +HP:0030712 Asherman syndrome NOT_TRANSLATED +HP:0030713 Median prosencephalic arteriovenous fistula NOT_TRANSLATED +HP:0030713 Vein of Galen aneurysm NOT_TRANSLATED +HP:0030713 Vein of Galen malformation NOT_TRANSLATED +HP:0030714 Breus' mole NOT_TRANSLATED +HP:0030715 Congenital bronchial atresia NOT_TRANSLATED +HP:0030718 Dilated right atrium NOT_TRANSLATED +HP:0030718 Enlarged heart right atrium NOT_TRANSLATED +HP:0030718 Right atrial dilatation NOT_TRANSLATED +HP:0030719 Rudimentary tricuspid valve leaflets NOT_TRANSLATED +HP:0030719 Unguarded tricuspid valve orifice NOT_TRANSLATED +HP:0030724 CNS cyst NOT_TRANSLATED +HP:0030724 Cyst of the central nervous system NOT_TRANSLATED +HP:0030729 Frontoethmoid meningocele NOT_TRANSLATED +HP:0030732 Tricuspid valve dysplasia NOT_TRANSLATED +HP:0030740 Right ventricular anomalous muscle bundle NOT_TRANSLATED +HP:0030741 Teratoma of the mediastinum NOT_TRANSLATED +HP:0030742 Mittendorf dot NOT_TRANSLATED +HP:0030743 Bergmeister papilla NOT_TRANSLATED +HP:0030745 Aneurysm of the ductus arteriosus NOT_TRANSLATED +HP:0030745 Congenital ductus arteriosus aneurysm NOT_TRANSLATED +HP:0030745 Ductus arteriosus aneurysm NOT_TRANSLATED +HP:0030746 Intraventricular haemorrhage NOT_TRANSLATED +HP:0030747 Preterm intraventricular haemorrhage NOT_TRANSLATED +HP:0030748 Germinal matrix haemorrhage NOT_TRANSLATED +HP:0030748 Germinal matrix hemorrhage NOT_TRANSLATED +HP:0030748 Grade I preterm intraventricular haemorrhage NOT_TRANSLATED +HP:0030749 Grade II preterm intraventricular haemorrhage NOT_TRANSLATED +HP:0030750 Grade III preterm intraventricular haemorrhage NOT_TRANSLATED +HP:0030751 Grade IV preterm intraventricular haemorrhage NOT_TRANSLATED +HP:0030752 Timo cyst NOT_TRANSLATED +HP:0030753 Intrauterine foetal demise of one twin after midgestation NOT_TRANSLATED +HP:0030753 Single-twin demise NOT_TRANSLATED +HP:0030756 Red teeth NOT_TRANSLATED +HP:0030757 Dental abscess NOT_TRANSLATED +HP:0030757 Dentoalveolar abscess NOT_TRANSLATED +HP:0030759 Fat cell hypertrophy NOT_TRANSLATED +HP:0030760 Kidney fibrosis NOT_TRANSLATED +HP:0030763 Amniotic shelf NOT_TRANSLATED +HP:0030765 Night terror NOT_TRANSLATED +HP:0030765 Pavor nocturnus NOT_TRANSLATED +HP:0030765 Sleep terrors NOT_TRANSLATED +HP:0030766 Otalgia NOT_TRANSLATED +HP:0030766 Pain in the ear NOT_TRANSLATED +HP:0030776 Modic type 1 vertebral endplate changes NOT_TRANSLATED +HP:0030777 Modic type 2 vertebral endplate changes NOT_TRANSLATED +HP:0030778 Modic type 3 vertebral endplate changes NOT_TRANSLATED +HP:0030782 Abnormal serum IL level NOT_TRANSLATED +HP:0030782 Abnormal serum interleukin level NOT_TRANSLATED +HP:0030783 Increased serum IL-6 NOT_TRANSLATED +HP:0030783 Increased serum interleukin-6 NOT_TRANSLATED +HP:0030784 Amnesic aphasia NOT_TRANSLATED +HP:0030784 Amnestic aphasia NOT_TRANSLATED +HP:0030784 Anomia NOT_TRANSLATED +HP:0030784 Nominal aphasia NOT_TRANSLATED +HP:0030784 Word-finding difficulty NOT_TRANSLATED +HP:0030785 Intrathoracic cystic hygroma NOT_TRANSLATED +HP:0030785 Thoracic cystic lymphangioma NOT_TRANSLATED +HP:0030790 Abnormal cerumen colour NOT_TRANSLATED +HP:0030790 Abnormal cerumen pigmentation NOT_TRANSLATED +HP:0030794 Abnormal C peptide level NOT_TRANSLATED +HP:0030794 Abnormal C-peptide level NOT_TRANSLATED +HP:0030795 Reduced C peptide level NOT_TRANSLATED +HP:0030796 Increased C peptide level NOT_TRANSLATED +HP:0030805 Absent lunulae NOT_TRANSLATED +HP:0030805 Lunula absent NOT_TRANSLATED +HP:0030805 Lunulae absent NOT_TRANSLATED +HP:0030811 Painful tongue NOT_TRANSLATED +HP:0030812 Enlargment of tonsils NOT_TRANSLATED +HP:0030812 Tonsillar hypertrophy NOT_TRANSLATED +HP:0030812 tonsils large/hypertrophy NOT_TRANSLATED +HP:0030813 Hypoplastic tonsils NOT_TRANSLATED +HP:0030813 Tonsillar hypoplasia NOT_TRANSLATED +HP:0030814 Orange colored tonsils NOT_TRANSLATED +HP:0030814 Orange coloured tonsils NOT_TRANSLATED +HP:0030814 Orange discoloured tonsils NOT_TRANSLATED +HP:0030814 Orange tonsils NOT_TRANSLATED +HP:0030814 Tonsils with orange deposits NOT_TRANSLATED +HP:0030815 Tongue lipoma NOT_TRANSLATED +HP:0030816 Gum recession NOT_TRANSLATED +HP:0030816 Receding gums NOT_TRANSLATED +HP:0030818 Median nail dystrophy NOT_TRANSLATED +HP:0030819 Upslanting nail NOT_TRANSLATED +HP:0030819 Upward angulation of nail NOT_TRANSLATED +HP:0030823 Thick sclera NOT_TRANSLATED +HP:0030824 Mizuo-Nakamura phenomenon NOT_TRANSLATED +HP:0030825 Foveal reflex absent NOT_TRANSLATED +HP:0030825 Loss of foveal reflex NOT_TRANSLATED +HP:0030826 Eyelid fluttering NOT_TRANSLATED +HP:0030826 Fasciculation of the eyelid NOT_TRANSLATED +HP:0030826 Muscle twitches in eye lid NOT_TRANSLATED +HP:0030826 Muscle twitches in eyelid NOT_TRANSLATED +HP:0030826 Twitching around eyes NOT_TRANSLATED +HP:0030829 Abnormal lung auscultation finding NOT_TRANSLATED +HP:0030830 Crepitations NOT_TRANSLATED +HP:0030830 Rales NOT_TRANSLATED +HP:0030839 Pain under knee cap NOT_TRANSLATED +HP:0030843 Amyloid cardiomyopathy NOT_TRANSLATED +HP:0030853 Heterotaxia NOT_TRANSLATED +HP:0030854 Staphyloma NOT_TRANSLATED +HP:0030858 Addictive behaviour NOT_TRANSLATED +HP:0030859 Anti-Scl-70 antibody positivity NOT_TRANSLATED +HP:0030859 Top1 antibody positivity NOT_TRANSLATED +HP:0030859 Topoisomerase (DNA) I antibody positivity NOT_TRANSLATED +HP:0030860 Abnormal CSF A[beta]42 level NOT_TRANSLATED +HP:0030860 Abnormal CSF amyloid level NOT_TRANSLATED +HP:0030861 Decreased CSF amyloid level NOT_TRANSLATED +HP:0030862 Elevated CSF amyloid level NOT_TRANSLATED +HP:0030864 Chest retractions NOT_TRANSLATED +HP:0030865 Prominent elbow NOT_TRANSLATED +HP:0030867 Eyes at different heights NOT_TRANSLATED +HP:0030867 Misaligned eyes NOT_TRANSLATED +HP:0030867 Unequal eye height NOT_TRANSLATED +HP:0030868 Monorchidism NOT_TRANSLATED +HP:0030870 Abnormality of Z-joint NOT_TRANSLATED +HP:0030870 Abnormality of apophyseal joint NOT_TRANSLATED +HP:0030870 Abnormality of zygapophyseal joint NOT_TRANSLATED +HP:0030870 Abnormality of zygapophysial joint NOT_TRANSLATED +HP:0030871 Facet arthritis NOT_TRANSLATED +HP:0030873 ACA positivity NOT_TRANSLATED +HP:0030873 Anticentromere antibody positivity NOT_TRANSLATED +HP:0030874 O2 desaturation on exertion NOT_TRANSLATED +HP:0030875 Abnormal pulmonary circulation NOT_TRANSLATED +HP:0030875 Abnormality of respiratory circulation NOT_TRANSLATED +HP:0030876 Increased pulmonary arterial wedge pressure NOT_TRANSLATED +HP:0030876 Increased pulmonary artery occlusion pressure NOT_TRANSLATED +HP:0030877 Obstructive deficit on pulmonary function test NOT_TRANSLATED +HP:0030877 Obstructive deficit on pulmonary function testing NOT_TRANSLATED +HP:0030878 Abnormal pulmonary function test NOT_TRANSLATED +HP:0030878 Abnormal spirometry test NOT_TRANSLATED +HP:0030879 Interlobular lines (pulmonary CT finding) NOT_TRANSLATED +HP:0030879 Interlobular septal thickening on pulmonary HRCT NOT_TRANSLATED +HP:0030879 Peripheral lines (pulmonary CT finding) NOT_TRANSLATED +HP:0030879 Septal lines (pulmonary CT finding) NOT_TRANSLATED +HP:0030879 Septal thickening (pulmonary CT finding) NOT_TRANSLATED +HP:0030879 Short lines (pumonary CT finding) NOT_TRANSLATED +HP:0030880 Raynaud disease NOT_TRANSLATED +HP:0030880 Raynaud's phenomenon NOT_TRANSLATED +HP:0030882 Coronary arterial dilatation NOT_TRANSLATED +HP:0030882 Coronary artery dilatation NOT_TRANSLATED +HP:0030882 Coronary artery ectasia NOT_TRANSLATED +HP:0030883 Femoral acetabular impingement NOT_TRANSLATED +HP:0030884 Gastro-jejunal tube feeding in infancy NOT_TRANSLATED +HP:0030889 Short bowel NOT_TRANSLATED +HP:0030890 White matter hyperintensity NOT_TRANSLATED +HP:0030891 PVWMH NOT_TRANSLATED +HP:0030892 DWMH NOT_TRANSLATED +HP:0030895 Abnormal GI motility NOT_TRANSLATED +HP:0030896 Abnormal GI transit time NOT_TRANSLATED +HP:0030900 Itchy feet NOT_TRANSLATED +HP:0030900 Itchy foot NOT_TRANSLATED +HP:0030903 Palmar grasp reflex NOT_TRANSLATED +HP:0030904 Myerson's sign NOT_TRANSLATED +HP:0030906 Persistent nutritive suckle swallow NOT_TRANSLATED +HP:0030908 Anti-LKM-1 positive NOT_TRANSLATED +HP:0030908 Anti-LKM1 antibody positivity NOT_TRANSLATED +HP:0030908 Anti-liver kidney microsomal type 1 antibody positivity NOT_TRANSLATED +HP:0030908 Anti-type I liver-kidney microsomal antibody positivity NOT_TRANSLATED +HP:0030909 Anti-liver cytosol antibody-1 positivity NOT_TRANSLATED +HP:0030913 Scrotum-like labia majora NOT_TRANSLATED +HP:0030915 Cerebellar oedema NOT_TRANSLATED +HP:0030915 Edema of the cerebellum NOT_TRANSLATED +HP:0030915 Oedema of the cerebellum NOT_TRANSLATED +HP:0030918 Low one-minute APGAR score NOT_TRANSLATED +HP:0030919 Low five-minute APGAR score NOT_TRANSLATED +HP:0030934 Oral erythroplasia NOT_TRANSLATED +HP:0030936 Muscularis propria malformation NOT_TRANSLATED +HP:0030936 Segmental additional circular muscle coat NOT_TRANSLATED +HP:0030939 Eyelid thickening NOT_TRANSLATED +HP:0030939 Thick eyelids NOT_TRANSLATED +HP:0030939 Thickened but nonswollen eyelids NOT_TRANSLATED +HP:0030939 Thickened eyelid NOT_TRANSLATED +HP:0030943 Vulvar pain NOT_TRANSLATED +HP:0030946 Bumps under the upper eyelid NOT_TRANSLATED +HP:0030946 Tarsal papillae NOT_TRANSLATED +HP:0030948 Elevated serum GGT NOT_TRANSLATED +HP:0030951 Muscle biopsy: fibrosis NOT_TRANSLATED +HP:0030952 Birdshot choroidal lesions NOT_TRANSLATED +HP:0030952 Birdshot laesions NOT_TRANSLATED +HP:0030952 Birdshot lesions NOT_TRANSLATED +HP:0030953 Conjunctival hyperaemia NOT_TRANSLATED +HP:0030953 Conjunctival injection NOT_TRANSLATED +HP:0030953 Conjunctival vascular congestion NOT_TRANSLATED +HP:0030957 Ventricular septal dilatation NOT_TRANSLATED +HP:0030958 Aneurysm of the membranous ventricular septum NOT_TRANSLATED +HP:0030958 Interventricular septum membranous part aneurysm NOT_TRANSLATED +HP:0030959 Aneurysm of the muscular ventricular septum NOT_TRANSLATED +HP:0030965 Increased aortic stiffness NOT_TRANSLATED +HP:0030972 Abnormal systemic BP NOT_TRANSLATED +HP:0030973 Exercise-induced malaise NOT_TRANSLATED +HP:0030973 Postexertional malaise NOT_TRANSLATED +HP:0030974 Cryptospermia NOT_TRANSLATED +HP:0030975 Vaulted pontine tegmentum NOT_TRANSLATED +HP:0030977 Elevated factor VIII level NOT_TRANSLATED +HP:0030979 Dilated choroidal vessels NOT_TRANSLATED +HP:0030991 Fibrous cholangitis NOT_TRANSLATED +HP:0030993 Duplicated pancreatic duct NOT_TRANSLATED +HP:0030997 Atresia of the vas deferens NOT_TRANSLATED +HP:0030997 Vas deferens atresia NOT_TRANSLATED +HP:0030998 CSF rhinorrhoea NOT_TRANSLATED +HP:0031003 Multiple neuritis NOT_TRANSLATED +HP:0031007 Jaw dystonia induced by speaking NOT_TRANSLATED +HP:0031008 Tongue dystonia NOT_TRANSLATED +HP:0031009 Dactylolysis spontanea NOT_TRANSLATED +HP:0031010 Hyperphalangy of third finger NOT_TRANSLATED +HP:0031011 Sudanophilic lesion NOT_TRANSLATED +HP:0031012 TCFA NOT_TRANSLATED +HP:0031014 Aberrant right subclavian artery NOT_TRANSLATED +HP:0031014 Lusorian artery NOT_TRANSLATED +HP:0031015 Idiopathic non-cirrhotic portal hypertension NOT_TRANSLATED +HP:0031015 Incomplete septal cirrhosis NOT_TRANSLATED +HP:0031015 Non cirrhotic portal fibrosis NOT_TRANSLATED +HP:0031015 Obliterative portal venopathy NOT_TRANSLATED +HP:0031016 Zebra stripe sign NOT_TRANSLATED +HP:0031018 Acrosyringeal adenomatosis NOT_TRANSLATED +HP:0031018 Eccrine syringofibroadenomatous hyperplasia NOT_TRANSLATED +HP:0031018 Syringofibroadenoma NOT_TRANSLATED +HP:0031022 Squamous papilloma of the uvula NOT_TRANSLATED +HP:0031026 Schneckenbecken dysplasia NOT_TRANSLATED +HP:0031026 Snail-like pelvis NOT_TRANSLATED +HP:0031026 Snail-shaped ilia NOT_TRANSLATED +HP:0031028 Milk-like serum NOT_TRANSLATED +HP:0031028 Plasma lactescence NOT_TRANSLATED +HP:0031029 Increased plasma CEA NOT_TRANSLATED +HP:0031030 Increased plasma CA125 NOT_TRANSLATED +HP:0031033 Renal acidification defect NOT_TRANSLATED +HP:0031036 Decreased plasma GH-binding protein NOT_TRANSLATED +HP:0031037 Reduced plasma INSL3 level NOT_TRANSLATED +HP:0031038 Meiotic maturation arrest of spermatogenesis NOT_TRANSLATED +HP:0031039 Spermatocytic arrest NOT_TRANSLATED +HP:0031040 Maturation arrest of spermatogenesis at spermatid stage NOT_TRANSLATED +HP:0031041 Superior vena cava obstruction NOT_TRANSLATED +HP:0031041 Superior vena cava syndrome NOT_TRANSLATED +HP:0031042 Raspberry tongue NOT_TRANSLATED +HP:0031046 Agenesis of the soft palate NOT_TRANSLATED +HP:0031047 Monoclonal hypergammaglobulinemia NOT_TRANSLATED +HP:0031052 Elevated circulating VEGF concentration NOT_TRANSLATED +HP:0031056 Intracranial fusiform aneurysm NOT_TRANSLATED +HP:0031057 Cracked skin NOT_TRANSLATED +HP:0031067 Empty follicle syndrome NOT_TRANSLATED +HP:0031074 Abnormal response to adrenocorticotropic-hormone stimulation test NOT_TRANSLATED +HP:0031074 Abnormal response to corticotropin stimulation test NOT_TRANSLATED +HP:0031077 Abnormal response to CRH stimulation test NOT_TRANSLATED +HP:0031083 Abnormal response to hCG stimulation test NOT_TRANSLATED +HP:0031086 Undescended ovary NOT_TRANSLATED +HP:0031087 Absent adolescent growth spurt NOT_TRANSLATED +HP:0031089 Palatal oedema NOT_TRANSLATED +HP:0031089 Palate edema NOT_TRANSLATED +HP:0031089 Palate oedema NOT_TRANSLATED +HP:0031090 Sausage fingers NOT_TRANSLATED +HP:0031091 Sausage toes NOT_TRANSLATED +HP:0031097 Abnormal TSH level NOT_TRANSLATED +HP:0031097 Abnormal circulating thyrotropin concentration NOT_TRANSLATED +HP:0031097 Abnormal thyrotropin level NOT_TRANSLATED +HP:0031098 Decreased plasma TSH NOT_TRANSLATED +HP:0031098 Decreased thyrotropin level NOT_TRANSLATED +HP:0031101 Abnormal antimullerian hormone level NOT_TRANSLATED +HP:0031102 Increased plasma AMH NOT_TRANSLATED +HP:0031103 Decreased plasma AMH NOT_TRANSLATED +HP:0031107 Thin fibula NOT_TRANSLATED +HP:0031109 Lactation incapacity NOT_TRANSLATED +HP:0031110 Twin to twin transfusion syndrome NOT_TRANSLATED +HP:0031111 Skin hamartoma NOT_TRANSLATED +HP:0031130 Impaired Ca ionophore-induced platelet aggregation NOT_TRANSLATED +HP:0031130 Impaired Ca2+ ionophore-induced platelet aggregation NOT_TRANSLATED +HP:0031135 Physical trauma triggered symptoms NOT_TRANSLATED +HP:0031141 Hyperechogenic liver NOT_TRANSLATED +HP:0031143 Hypoechogenic liver NOT_TRANSLATED +HP:0031150 VMA NOT_TRANSLATED +HP:0031151 VMT NOT_TRANSLATED +HP:0031152 FTMH NOT_TRANSLATED +HP:0031153 Membranous anomaly NOT_TRANSLATED +HP:0031153 Membranous vitreous NOT_TRANSLATED +HP:0031153 Membranous vitreous phenotype NOT_TRANSLATED +HP:0031155 Increased Arden ratio of EOG NOT_TRANSLATED +HP:0031157 Caroticocavernous fistula NOT_TRANSLATED +HP:0031163 Low femur bone density NOT_TRANSLATED +HP:0031164 Growth resumption lines NOT_TRANSLATED +HP:0031164 Harris lines NOT_TRANSLATED +HP:0031165 Multifocal onset seizures NOT_TRANSLATED +HP:0031166 Myokymia orbicularis NOT_TRANSLATED +HP:0031166 Orbicularis myokymia NOT_TRANSLATED +HP:0031167 Potassium-rich food triggered symptoms NOT_TRANSLATED +HP:0031167 Triggered by ingestion of K-rich food NOT_TRANSLATED +HP:0031170 Female foetal virilization NOT_TRANSLATED +HP:0031171 Spurring of femur NOT_TRANSLATED +HP:0031173 Spurring of tibiae NOT_TRANSLATED +HP:0031179 Meningism NOT_TRANSLATED +HP:0031180 Erythema chronicum migrans NOT_TRANSLATED +HP:0031185 Increased NT-proBNP level NOT_TRANSLATED +HP:0031187 Abnormality of circulating pregnenolone level NOT_TRANSLATED +HP:0031188 Genital oedema NOT_TRANSLATED +HP:0031190 Superficial perivascular inflammatory infiltrate NOT_TRANSLATED +HP:0031191 Deep perivascular inflammatory infiltrate NOT_TRANSLATED +HP:0031197 Cellular casts NOT_TRANSLATED +HP:0031199 Acellular casts NOT_TRANSLATED +HP:0031205 Reduced leukocyte acid lipase activity NOT_TRANSLATED +HP:0031207 Hemangioma of the liver NOT_TRANSLATED +HP:0031207 Liver hemangioma NOT_TRANSLATED +HP:0031208 Increased pituitary glycoprotein alpha subunit level NOT_TRANSLATED +HP:0031208 Increased pituitary glycoprotein polypeptide alpha subunit level NOT_TRANSLATED +HP:0031209 Decreased lipoprotein lipase level NOT_TRANSLATED +HP:0031211 Elevated cholesteryl ester level NOT_TRANSLATED +HP:0031211 Increased cholesterol esters NOT_TRANSLATED +HP:0031211 Increased cholesteryl esters NOT_TRANSLATED +HP:0031213 Elevated circulating 17-OHP NOT_TRANSLATED +HP:0031214 Decreased circulating dehydroepiandrosterone level NOT_TRANSLATED +HP:0031215 Decreased circulating dehydroepiandrosterone-sulfate level NOT_TRANSLATED +HP:0031218 Inappropriate ADH secretion NOT_TRANSLATED +HP:0031218 SIADH NOT_TRANSLATED +HP:0031218 Syndrome of inappropriate antidiuretic hormone secretion NOT_TRANSLATED +HP:0031222 Thyroxine-binding globulin high in blood NOT_TRANSLATED +HP:0031225 Intrapulmonary shunting NOT_TRANSLATED +HP:0031233 Squaring of the inferior scapulae NOT_TRANSLATED +HP:0031233 Squaring of the scapula NOT_TRANSLATED +HP:0031237 Internally nucleated skeletal muscle fibres NOT_TRANSLATED +HP:0031238 Necklace skeletal muscle fibres NOT_TRANSLATED +HP:0031242 Decreased circulating chylomicron levels NOT_TRANSLATED +HP:0031242 Hypochylomicronemia NOT_TRANSLATED +HP:0031243 Decreased circulating very-low-density lipoprotein levels NOT_TRANSLATED +HP:0031244 Edematous lip NOT_TRANSLATED +HP:0031244 Swelling of the lip NOT_TRANSLATED +HP:0031245 Cough with mucus production NOT_TRANSLATED +HP:0031245 Wet cough NOT_TRANSLATED +HP:0031246 Dry cough NOT_TRANSLATED +HP:0031246 Dry coughing NOT_TRANSLATED +HP:0031248 Itchy palm NOT_TRANSLATED +HP:0031249 Altered sense of taste NOT_TRANSLATED +HP:0031249 Dysgeusia NOT_TRANSLATED +HP:0031249 Metallic taste NOT_TRANSLATED +HP:0031249 Metallic taste in mouth NOT_TRANSLATED +HP:0031259 Inflammed ovary NOT_TRANSLATED +HP:0031264 Abnormal morphology of Bowman capsule NOT_TRANSLATED +HP:0031264 Abnormal morphology of Bowman's capsule NOT_TRANSLATED +HP:0031264 Abnormal renal glomerular capsule morphology NOT_TRANSLATED +HP:0031265 Abnormal podocyte morphology NOT_TRANSLATED +HP:0031265 Abnormal visceral epithelial cell morphology NOT_TRANSLATED +HP:0031266 Loss of primary podocyte processes NOT_TRANSLATED +HP:0031270 Poor CD25 upregulation upon TCR activation NOT_TRANSLATED +HP:0031270 Reduced IL2RA upregulation upon TCR activation NOT_TRANSLATED +HP:0031279 Abnormal response to GnRH stimulation test NOT_TRANSLATED +HP:0031287 Basal cell papilloma NOT_TRANSLATED +HP:0031287 Seborrheic verruca NOT_TRANSLATED +HP:0031287 Senile wart NOT_TRANSLATED +HP:0031292 Skin abscess NOT_TRANSLATED +HP:0031295 Enlarged heart left atrium NOT_TRANSLATED +HP:0031298 Coronary sinus dilatation NOT_TRANSLATED +HP:0031298 Enlarged coronary sinus NOT_TRANSLATED +HP:0031301 Peripheral artery calcification NOT_TRANSLATED +HP:0031302 Lower extremity peripheral artery calcification NOT_TRANSLATED +HP:0031317 Fatty infiltration of cardiac ventricle NOT_TRANSLATED +HP:0031317 Intramyocardial fat infiltration NOT_TRANSLATED +HP:0031318 Myocardial fiber disarray NOT_TRANSLATED +HP:0031318 Myocardial fibre disarray NOT_TRANSLATED +HP:0031319 Myocyte cellular hypertrophy NOT_TRANSLATED +HP:0031327 TTR cardiac amyloidosis NOT_TRANSLATED +HP:0031331 Abnormal cardiac muscle cell morphology NOT_TRANSLATED +HP:0031333 Cardiac biopsy: myocyte disarray NOT_TRANSLATED +HP:0031333 Cardiomyocyte disarray NOT_TRANSLATED +HP:0031333 Myocardial sarcomere disarray NOT_TRANSLATED +HP:0031348 D-TGA NOT_TRANSLATED +HP:0031348 D-loop transposition of the great arteries NOT_TRANSLATED +HP:0031349 L-TGA NOT_TRANSLATED +HP:0031351 Calcified amorphous tumour of the heart NOT_TRANSLATED +HP:0031352 Chest distress NOT_TRANSLATED +HP:0031352 Tightness in chest NOT_TRANSLATED +HP:0031352 Tightness of chest NOT_TRANSLATED +HP:0031353 Fluid behind eardrum NOT_TRANSLATED +HP:0031354 Difficulty falling asleep NOT_TRANSLATED +HP:0031355 Waking up several times during the night NOT_TRANSLATED +HP:0031356 Late insomnia NOT_TRANSLATED +HP:0031364 Ecchymoses NOT_TRANSLATED +HP:0031365 Flat purpura NOT_TRANSLATED +HP:0031367 Striated metaphysis NOT_TRANSLATED +HP:0031369 Perforation of the colon NOT_TRANSLATED +HP:0031373 Tongue stiffness NOT_TRANSLATED +HP:0031381 Reduced lymphocyte proliferation to mitogen NOT_TRANSLATED +HP:0031382 Defective lymphocyte proliferation to anti-CD3 NOT_TRANSLATED +HP:0031382 Defective proliferation of lymphocytes following anti-CD3 stimulation NOT_TRANSLATED +HP:0031392 Abnormal proportion of CD4+ T cells NOT_TRANSLATED +HP:0031392 Abnormal proportion of CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0031393 Abnormal proportion of CD8+ T cells NOT_TRANSLATED +HP:0031393 Abnormal proportion of CD8-positive, alpha-beta T cells NOT_TRANSLATED +HP:0031396 Abnormal naive T cell proportion NOT_TRANSLATED +HP:0031396 Abnormal proportion of naive thymus-derived, alpha-beta T cells NOT_TRANSLATED +HP:0031397 Decreased proportion of naive thymus-derived, alpha-beta T cells NOT_TRANSLATED +HP:0031397 Reduced proportion of naive T cells NOT_TRANSLATED +HP:0031398 Elevated proportion of naive T cells NOT_TRANSLATED +HP:0031398 Increased proportion of naive thymus-derived, alpha-beta T cells NOT_TRANSLATED +HP:0031399 Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution NOT_TRANSLATED +HP:0031399 Abnormal DN Treg distribution NOT_TRANSLATED +HP:0031399 Abnormal Double negative Treg distribution NOT_TRANSLATED +HP:0031399 Abnormal double-negative alpha-beta regulatory T cell distribution NOT_TRANSLATED +HP:0031402 Antigen-specific T cell proliferation defect NOT_TRANSLATED +HP:0031402 Impaired Ag-specific T cell proliferation NOT_TRANSLATED +HP:0031402 Impaired activated T cell proliferation NOT_TRANSLATED +HP:0031402 Impaired cellular adaptive immune response NOT_TRANSLATED +HP:0031403 Pathogen-specific CD8 cytoxicity defect NOT_TRANSLATED +HP:0031404 Impaired adaptive immune response NOT_TRANSLATED +HP:0031406 Abnormal cytokine signalling NOT_TRANSLATED +HP:0031407 Cytokine signaling defect NOT_TRANSLATED +HP:0031407 Cytokine signalling defect NOT_TRANSLATED +HP:0031407 Impaired cytokine signalling NOT_TRANSLATED +HP:0031410 Abnormal distribution of CD56 bright/dim NK cells NOT_TRANSLATED +HP:0031414 High serum 25-hydroxycholecalciferol NOT_TRANSLATED +HP:0031414 High serum calcidiol NOT_TRANSLATED +HP:0031415 High serum 1,25-dihydroxycholecalciferol NOT_TRANSLATED +HP:0031415 High serum 1,25-dihydroxyvitamin D3 NOT_TRANSLATED +HP:0031415 Increased serum 1,25-dihydroxyvitamin D3 NOT_TRANSLATED +HP:0031415 Increased serum calcitriol NOT_TRANSLATED +HP:0031417 Nasal Discharge NOT_TRANSLATED +HP:0031417 Runny Nose NOT_TRANSLATED +HP:0031418 Increased BMI NOT_TRANSLATED +HP:0031419 Reduced androgen-binding protein level NOT_TRANSLATED +HP:0031420 Laser pointer-induced maculopathy NOT_TRANSLATED +HP:0031420 Laser pointer-induced retinopathy NOT_TRANSLATED +HP:0031420 Light induced retinopathy NOT_TRANSLATED +HP:0031420 Photic retinopathy NOT_TRANSLATED +HP:0031420 Small yellow foveal lesion with surrounding grey zone NOT_TRANSLATED +HP:0031420 Solar retinitis NOT_TRANSLATED +HP:0031420 Solar retinopathy NOT_TRANSLATED +HP:0031422 Abnormal morphology of the cerebellar cortex NOT_TRANSLATED +HP:0031424 Abnormal circulating beta-C-terminal telopeptide level NOT_TRANSLATED +HP:0031424 Abnormal circulating beta-CTx level NOT_TRANSLATED +HP:0031424 Abnormal circulating beta-CrossLaps level NOT_TRANSLATED +HP:0031425 Increased circulating beta-C-terminal telopeptide level NOT_TRANSLATED +HP:0031425 Increased circulating beta-CTx level NOT_TRANSLATED +HP:0031425 Increased circulating beta-CrossLaps level NOT_TRANSLATED +HP:0031426 Decreased circulating beta-C-terminal telopeptide level NOT_TRANSLATED +HP:0031426 Decreased circulating beta-CTx level NOT_TRANSLATED +HP:0031426 Decreased circulating beta-CrossLaps level NOT_TRANSLATED +HP:0031433 Unaware of others' emotions NOT_TRANSLATED +HP:0031437 Exposure during pregnancy NOT_TRANSLATED +HP:0031461 IM Myxoma NOT_TRANSLATED +HP:0031475 Nonconvulsive status epilepticus NOT_TRANSLATED +HP:0031485 Periosteal reaction NOT_TRANSLATED +HP:0031488 Atypical connection between arteries and veins NOT_TRANSLATED +HP:0031491 CSWS NOT_TRANSLATED +HP:0031491 Electrical status epilepticus during slow-wave sleep NOT_TRANSLATED +HP:0031494 Mucinous neoplasm of the ovary NOT_TRANSLATED +HP:0031494 Ovarian mucinous tumour NOT_TRANSLATED +HP:0031502 Trophoblastic tumour NOT_TRANSLATED +HP:0031504 Frothy urine NOT_TRANSLATED +HP:0031505 Abnormal circulating T4 level NOT_TRANSLATED +HP:0031505 Abnormal circulating thyroxine level NOT_TRANSLATED +HP:0031506 Increased circulating T4 level NOT_TRANSLATED +HP:0031506 Increased circulating thyroxine level NOT_TRANSLATED +HP:0031507 Decreased circulating T4 level NOT_TRANSLATED +HP:0031507 Decreased circulating thyroxine level NOT_TRANSLATED +HP:0031507 Reduced T4 plasma level NOT_TRANSLATED +HP:0031508 Abnormal thyroid hormone level NOT_TRANSLATED +HP:0031516 Metaphase I oocyte meiotic arrest NOT_TRANSLATED +HP:0031516 Oocyte meiotic arrest at metaphase I NOT_TRANSLATED +HP:0031521 Clear cell adenocarcinoma of the vagina NOT_TRANSLATED +HP:0031522 Clear cell carcinoma of cervix NOT_TRANSLATED +HP:0031523 Parotid oncocytoma NOT_TRANSLATED +HP:0031526 Sub-retinal fluid NOT_TRANSLATED +HP:0031527 Intra-retinal fluid NOT_TRANSLATED +HP:0031542 Myelin-like whorls in vacuolated fibres NOT_TRANSLATED +HP:0031544 Elevated circulating O-propionylcarnitine concentration NOT_TRANSLATED +HP:0031544 Elevated plasma palmitoleylcarnitine, C16:1 NOT_TRANSLATED +HP:0031544 Elevated plasma propionylcarnitine, C3:0 NOT_TRANSLATED +HP:0031544 Elevated propionylcarnitine level NOT_TRANSLATED +HP:0031546 Abnormality of cardiac conduction NOT_TRANSLATED +HP:0031546 Abnormality of cardiac conduction system NOT_TRANSLATED +HP:0031546 Cardiac conduction abnormalities NOT_TRANSLATED +HP:0031546 Cardiac conduction defects NOT_TRANSLATED +HP:0031546 Heart conduction disorder NOT_TRANSLATED +HP:0031548 Basal cell hamartoma with follicular differentiation NOT_TRANSLATED +HP:0031548 Follicular infundibulum tumour NOT_TRANSLATED +HP:0031549 Skin pseudolymphoma NOT_TRANSLATED +HP:0031549 Spiegler-Fendt sarcoid NOT_TRANSLATED +HP:0031569 Absent aortic valve NOT_TRANSLATED +HP:0031570 Tessier facial cleft number 0 NOT_TRANSLATED +HP:0031578 Tessier facial cleft number 6 NOT_TRANSLATED +HP:0031579 Tessier cleft number 7 NOT_TRANSLATED +HP:0031579 Tessier facial cleft number 7 NOT_TRANSLATED +HP:0031580 Tessier facial cleft number 8 NOT_TRANSLATED +HP:0031586 Tessier facial cleft number 14 NOT_TRANSLATED +HP:0031588 Unhappy demeanour NOT_TRANSLATED +HP:0031589 Suicidality NOT_TRANSLATED +HP:0031590 Eye strain NOT_TRANSLATED +HP:0031591 Enlarged inferior vena cava valve NOT_TRANSLATED +HP:0031591 Giant Eustachian valve NOT_TRANSLATED +HP:0031594 PR interval depression NOT_TRANSLATED +HP:0031594 PTa depression NOT_TRANSLATED +HP:0031597 PR interval elevation NOT_TRANSLATED +HP:0031597 PTa elevation NOT_TRANSLATED +HP:0031602 Abnormal mucociliary transport NOT_TRANSLATED +HP:0031603 Abnormal saccharine test NOT_TRANSLATED +HP:0031604 Bony carotid canal agenesis NOT_TRANSLATED +HP:0031610 Multiple shoulder dislocation NOT_TRANSLATED +HP:0031611 Sub-ILM haemorrhage NOT_TRANSLATED +HP:0031611 Sub-ILM hemorrhage NOT_TRANSLATED +HP:0031611 Sub-inner limiting membrane haemorrhage NOT_TRANSLATED +HP:0031622 Brown syndrome NOT_TRANSLATED +HP:0031623 Drooping brow NOT_TRANSLATED +HP:0031626 Atresia of coronary ostium NOT_TRANSLATED +HP:0031628 Sudden cardiac arrest NOT_TRANSLATED +HP:0031629 Clumsy tandem walking NOT_TRANSLATED +HP:0031635 Anomalous origin of the left common carotid artery from the brachiocephalic trunk NOT_TRANSLATED +HP:0031639 Absent LMCA NOT_TRANSLATED +HP:0031658 S3 NOT_TRANSLATED +HP:0031658 Ventricular gallop NOT_TRANSLATED +HP:0031659 Atrial gallop NOT_TRANSLATED +HP:0031659 Presystolic gallop NOT_TRANSLATED +HP:0031659 S4 NOT_TRANSLATED +HP:0031662 Fixed splitting of S2 NOT_TRANSLATED +HP:0031663 Paradoxical splitting of S2 NOT_TRANSLATED +HP:0031663 Reversed splitting of S2 NOT_TRANSLATED +HP:0031663 Reversed splitting of the second heart sound NOT_TRANSLATED +HP:0031673 Orthodromic AVRT NOT_TRANSLATED +HP:0031674 Antidromic AVRT NOT_TRANSLATED +HP:0031685 Abnormal faeces composition NOT_TRANSLATED +HP:0031685 Abnormal fecal test result NOT_TRANSLATED +HP:0031685 Abnormal feces composition NOT_TRANSLATED +HP:0031687 Accentuation of the pulmonic component of the second heart sound NOT_TRANSLATED +HP:0031689 Dysmegakaryopoiesis NOT_TRANSLATED +HP:0031693 Fulminant infectious mononucleosis NOT_TRANSLATED +HP:0031693 Severe EBV infection NOT_TRANSLATED +HP:0031702 Anterior chamber RBCs NOT_TRANSLATED +HP:0031717 Alternating strabismus NOT_TRANSLATED +HP:0031721 Secondary exotropia NOT_TRANSLATED +HP:0031722 Non-accomodative convergence excess esotropia NOT_TRANSLATED +HP:0031723 Sensory esotropia NOT_TRANSLATED +HP:0031728 Mild hyperopia NOT_TRANSLATED +HP:0031729 Moderate hyperopia NOT_TRANSLATED +HP:0031759 Basic (constant) esotropia NOT_TRANSLATED +HP:0031761 Infantile (constant) esotropia NOT_TRANSLATED +HP:0031762 Divergence insufficiency NOT_TRANSLATED +HP:0031765 Constant esotropia with an accommodative component NOT_TRANSLATED +HP:0031765 Constant esotropia with an accommodative element NOT_TRANSLATED +HP:0031775 Paralytic strabismus NOT_TRANSLATED +HP:0031786 Cogan eyelid twitch NOT_TRANSLATED +HP:0031786 Eyelid twitch NOT_TRANSLATED +HP:0031786 Lid twitch NOT_TRANSLATED +HP:0031793 Elevated circulating leptin level NOT_TRANSLATED +HP:0031796 Intermittent NOT_TRANSLATED +HP:0031797 Natural history of disease NOT_TRANSLATED +HP:0031798 Elevated ApoB level NOT_TRANSLATED +HP:0031798 Elevated apolipoprotein B level NOT_TRANSLATED +HP:0031799 Decreased apo-AI level NOT_TRANSLATED +HP:0031799 Decreased apoA-I level NOT_TRANSLATED +HP:0031799 Decreased apolipoprotein AI level NOT_TRANSLATED +HP:0031800 Elevated APOAII level NOT_TRANSLATED +HP:0031800 Elevated Apo-AII level NOT_TRANSLATED +HP:0031800 Elevated apoA-II level NOT_TRANSLATED +HP:0031800 Elevated apolipoprotein A-II level NOT_TRANSLATED +HP:0031803 Fundus haemorrhage NOT_TRANSLATED +HP:0031804 Premacular haemorrhage NOT_TRANSLATED +HP:0031805 Intraretinal haemorrhage NOT_TRANSLATED +HP:0031807 Basophilia NOT_TRANSLATED +HP:0031809 Archibald's metacarpal sign NOT_TRANSLATED +HP:0031809 Knuckle dimple NOT_TRANSLATED +HP:0031813 Eosinophilic colitis NOT_TRANSLATED +HP:0031813 Eosinophilic infiltration in the colon NOT_TRANSLATED +HP:0031817 Decreased circulating PTH level NOT_TRANSLATED +HP:0031817 Decreased serum PTH NOT_TRANSLATED +HP:0031817 Decreased serum parathyroid hormone NOT_TRANSLATED +HP:0031817 Decreased serum parathyroid hormone level NOT_TRANSLATED +HP:0031819 Increased WHR NOT_TRANSLATED +HP:0031819 Increased waist-hip ratio NOT_TRANSLATED +HP:0031819 Increased waist-to-hip ratio NOT_TRANSLATED +HP:0031820 Decreased WHR NOT_TRANSLATED +HP:0031820 Decreased waist-hip ratio NOT_TRANSLATED +HP:0031820 Decreased waist-to-hip ratio NOT_TRANSLATED +HP:0031821 Abnormal 6-hydroxypurine phosphoribosyltransferase level NOT_TRANSLATED +HP:0031821 Abnormal GMP pyrophosphorylase level NOT_TRANSLATED +HP:0031821 Abnormal GPRT level NOT_TRANSLATED +HP:0031822 Elevated 6-hydroxypurine phosphoribosyltransferase level NOT_TRANSLATED +HP:0031822 Elevated 6-mercaptopurine phosphoribosyltransferase level NOT_TRANSLATED +HP:0031822 Elevated GMP pyrophosphorylase level NOT_TRANSLATED +HP:0031823 Reduced 6-hydroxypurine phosphoribosyltransferase level NOT_TRANSLATED +HP:0031823 Reduced 6-mercaptopurine phosphoribosyltransferase level NOT_TRANSLATED +HP:0031823 Reduced GMP pyrophosphorylase level NOT_TRANSLATED +HP:0031825 Freezing gait NOT_TRANSLATED +HP:0031827 Abdominal reflex absent NOT_TRANSLATED +HP:0031829 Absent cremasteric reflex NOT_TRANSLATED +HP:0031835 Abnormal superoxide:superoxide oxidoreductase activity NOT_TRANSLATED +HP:0031836 Increased superoxide:superoxide oxidoreductase activity NOT_TRANSLATED +HP:0031837 Decreased superoxide:superoxide oxidoreductase activity NOT_TRANSLATED +HP:0031842 Lymphangiectasia NOT_TRANSLATED +HP:0031843 Mental slowness NOT_TRANSLATED +HP:0031843 Slowed thinking NOT_TRANSLATED +HP:0031843 Slowed thoughts NOT_TRANSLATED +HP:0031843 Slowness of thought NOT_TRANSLATED +HP:0031846 Femoral fracture NOT_TRANSLATED +HP:0031849 Inverted sleep-wake cycle NOT_TRANSLATED +HP:0031850 Abnormal Hct NOT_TRANSLATED +HP:0031851 Low hematocrit NOT_TRANSLATED +HP:0031851 Reduced Hct NOT_TRANSLATED +HP:0031854 Left-sided isomerism NOT_TRANSLATED +HP:0031855 Right-sided isomerism NOT_TRANSLATED +HP:0031857 Ineffective esophageal motility NOT_TRANSLATED +HP:0031861 Reduced heart rate variability NOT_TRANSLATED +HP:0031864 Bacteria in blood culture NOT_TRANSLATED +HP:0031865 Abnormal hepatic physiology NOT_TRANSLATED +HP:0031869 Recurrent joint dislocations NOT_TRANSLATED +HP:0031873 Early sleep onset NOT_TRANSLATED +HP:0031874 Late sleep onset NOT_TRANSLATED +HP:0031880 Lid laxity NOT_TRANSLATED +HP:0031882 Agyria diffuse NOT_TRANSLATED +HP:0031884 Abnormal CSF glucose level NOT_TRANSLATED +HP:0031885 Increased CSF glucose NOT_TRANSLATED +HP:0031886 Abnormal LDL-C concentration NOT_TRANSLATED +HP:0031886 Abnormal LDL-C level NOT_TRANSLATED +HP:0031886 Abnormal LDLc concentration NOT_TRANSLATED +HP:0031898 Increased rouleaux formation NOT_TRANSLATED +HP:0031899 Abnormal factor V activity NOT_TRANSLATED +HP:0031903 Abnormal serum selenium concentration NOT_TRANSLATED +HP:0031904 Abnormal CH50 NOT_TRANSLATED +HP:0031907 AMA-M2 positive NOT_TRANSLATED +HP:0031907 Anti-pyruvate dehydrogenase antibody positivity NOT_TRANSLATED +HP:0031912 Trigeminal anaesthesia NOT_TRANSLATED +HP:0031918 Ovarian sex cord-stromal tumour NOT_TRANSLATED +HP:0031919 Juvenile type ovarian granulosa cell tumour NOT_TRANSLATED +HP:0031919 Ovarian juvenile granulosa cell tumor NOT_TRANSLATED +HP:0031919 Ovarian juvenile granulosa cell tumour NOT_TRANSLATED +HP:0031920 Malignant ovarian granulosa cell tumour NOT_TRANSLATED +HP:0031921 Calf muscle pain NOT_TRANSLATED +HP:0031921 Calf myalgia NOT_TRANSLATED +HP:0031922 Accessory renal artery NOT_TRANSLATED +HP:0031922 Double renal artery NOT_TRANSLATED +HP:0031923 Haematocolpos NOT_TRANSLATED +HP:0031930 Pineocytomatous rosette NOT_TRANSLATED +HP:0031932 Left ventricle to aorta tunnel NOT_TRANSLATED +HP:0031933 Right ventricle to aorta tunnel NOT_TRANSLATED +HP:0031936 Delayed walking NOT_TRANSLATED +HP:0031937 Tachylogia NOT_TRANSLATED +HP:0031938 Abnormal conus medullaris morphology NOT_TRANSLATED +HP:0031942 CAPV NOT_TRANSLATED +HP:0031942 Missing portal vein NOT_TRANSLATED +HP:0031944 Pleural incrassation NOT_TRANSLATED +HP:0031945 Elevated N,N-dimethylglycine level NOT_TRANSLATED +HP:0031947 Jerky movements of the tongue NOT_TRANSLATED +HP:0031949 Recurrent bacterial URI NOT_TRANSLATED +HP:0031951 Sleep seizures NOT_TRANSLATED +HP:0031953 Senile gait NOT_TRANSLATED +HP:0031955 Limp NOT_TRANSLATED +HP:0031956 Aspartate aminotransferase increased NOT_TRANSLATED +HP:0031956 Elevated serum AST NOT_TRANSLATED +HP:0031956 Elevated serum aspartate aminotransferase NOT_TRANSLATED +HP:0031956 Elevated serum glutamic oxaloacetic transaminase NOT_TRANSLATED +HP:0031957 Wernicke-Mann gait NOT_TRANSLATED +HP:0031964 Alanine aminotransferase increased NOT_TRANSLATED +HP:0031964 Elevated serum ALT NOT_TRANSLATED +HP:0031964 Elevated serum alanine aminotransferase NOT_TRANSLATED +HP:0031964 Elevated serum glutamic-pyruvic transaminase NOT_TRANSLATED +HP:0031965 Increased red blood cell distribution width NOT_TRANSLATED +HP:0031967 Turbid urine NOT_TRANSLATED +HP:0031969 Reduced BUN NOT_TRANSLATED +HP:0031970 Abnormal BUN concentration NOT_TRANSLATED +HP:0031983 Abnormal chest radiograph finding (lung) NOT_TRANSLATED +HP:0031987 Concentration problems NOT_TRANSLATED +HP:0031987 Lack of concentration NOT_TRANSLATED +HP:0031987 Poor concentration NOT_TRANSLATED +HP:0031993 Hoffmann's sign NOT_TRANSLATED +HP:0032007 Maceration of the skin NOT_TRANSLATED +HP:0032007 Skin maceration NOT_TRANSLATED +HP:0032008 Fat embolism NOT_TRANSLATED +HP:0032009 Infantile (constant) exotropia NOT_TRANSLATED +HP:0032010 Basic (constant) exotropia NOT_TRANSLATED +HP:0032016 Abnormal sputum morphology NOT_TRANSLATED +HP:0032018 Mononeuritis multiplex NOT_TRANSLATED +HP:0032019 Eosinophilic infiltration of skeletal muscle NOT_TRANSLATED +HP:0032020 Eosinophilic cystitis NOT_TRANSLATED +HP:0032021 Eosinophilic hepatitis NOT_TRANSLATED +HP:0032022 Eosinophilic dermatitis NOT_TRANSLATED +HP:0032023 Eosinophilic cholecystitis NOT_TRANSLATED +HP:0032036 Abnormal contrast sensitivity NOT_TRANSLATED +HP:0032037 Mild reduction in visual acuity NOT_TRANSLATED +HP:0032037 Mild vision loss NOT_TRANSLATED +HP:0032037 Mild visual loss NOT_TRANSLATED +HP:0032043 Painful swallowing NOT_TRANSLATED +HP:0032060 Angiolymphoid hyperplasia with eosinophilia NOT_TRANSLATED +HP:0032064 Eosinophilic enteritis NOT_TRANSLATED +HP:0032064 Eosinophilic gastroenteritis NOT_TRANSLATED +HP:0032064 Eosinophilic gastrointestinal disease NOT_TRANSLATED +HP:0032064 Eosinophilic gastrointestinal disorders NOT_TRANSLATED +HP:0032064 GI eosinophilia NOT_TRANSLATED +HP:0032065 Abnormal serum HCO3 concentration NOT_TRANSLATED +HP:0032066 Decreased serum HCO3 concentration NOT_TRANSLATED +HP:0032067 Elevated serum HCO3 concentration NOT_TRANSLATED +HP:0032069 Anti-thyroid globulin antibody positivity NOT_TRANSLATED +HP:0032069 TgAbs NOT_TRANSLATED +HP:0032071 Eosinophilic pulmonary infiltration NOT_TRANSLATED +HP:0032071 Pulmonary eosinophilia NOT_TRANSLATED +HP:0032071 Pulmonary eosinophilic infiltrate NOT_TRANSLATED +HP:0032071 Pulmonary eosinophilic infiltration NOT_TRANSLATED +HP:0032072 Baker's cyst NOT_TRANSLATED +HP:0032077 Meatal stenosis NOT_TRANSLATED +HP:0032077 Meatus stenosis NOT_TRANSLATED +HP:0032083 Aortic elastic fibre fragmentation NOT_TRANSLATED +HP:0032084 Aortic elastic fibre thinning NOT_TRANSLATED +HP:0032085 Aortic elastic fibre disorganisation NOT_TRANSLATED +HP:0032088 Aortic smooth muscle cell disorganisation NOT_TRANSLATED +HP:0032094 Increased serum surfactant protein level NOT_TRANSLATED +HP:0032097 Increased blood manganese concentration NOT_TRANSLATED +HP:0032104 Saccadic oscillations NOT_TRANSLATED +HP:0032105 Macrosaccadic oscillation NOT_TRANSLATED +HP:0032106 Scleral icterus NOT_TRANSLATED +HP:0032106 Yellow conjunctiva NOT_TRANSLATED +HP:0032106 Yellow sclera NOT_TRANSLATED +HP:0032106 Yellowing of the whites of the eyes NOT_TRANSLATED +HP:0032108 Mild reduction in contrast sensitivity NOT_TRANSLATED +HP:0032109 Moderate reduction in contrast sensitivity NOT_TRANSLATED +HP:0032113 Semidominant mode of inheritance NOT_TRANSLATED +HP:0032121 Froment thumb sign NOT_TRANSLATED +HP:0032124 Abnormal proportion of non-class-switched memory B cells NOT_TRANSLATED +HP:0032125 Elevated proportion of unswitched memory B cells NOT_TRANSLATED +HP:0032125 Increased proportion of non-class-switched memory B cells NOT_TRANSLATED +HP:0032126 Decreased proportion of non-class-switched memory B cells NOT_TRANSLATED +HP:0032126 Reduced proportion of unswitched memory B cells NOT_TRANSLATED +HP:0032131 Uterine cervix dysplasia NOT_TRANSLATED +HP:0032134 Chronic decreased total IgG in blood NOT_TRANSLATED +HP:0032135 Decreased IgG subclass level in blood NOT_TRANSLATED +HP:0032136 Decreased IgG1 level in blood NOT_TRANSLATED +HP:0032137 Decreased IgG3 level in blood NOT_TRANSLATED +HP:0032138 Decreased IgG4 level in blood NOT_TRANSLATED +HP:0032139 Decreased natural antibody to blood group agents NOT_TRANSLATED +HP:0032139 Partial absence of isohemagglutinins NOT_TRANSLATED +HP:0032142 Foetor hepaticus NOT_TRANSLATED +HP:0032144 Coffee grounds emesis NOT_TRANSLATED +HP:0032144 Coffee grounds vomiting NOT_TRANSLATED +HP:0032145 Atrophy of sural nerve NOT_TRANSLATED +HP:0032146 Haemoglobin C NOT_TRANSLATED +HP:0032146 HbC haemoglobin NOT_TRANSLATED +HP:0032146 Hemoglobin C NOT_TRANSLATED +HP:0032152 Carpet tack sign NOT_TRANSLATED +HP:0032152 Chicken skin NOT_TRANSLATED +HP:0032152 Follicular keratosis NOT_TRANSLATED +HP:0032152 Follicular keratotic plug NOT_TRANSLATED +HP:0032152 Follicular plugging NOT_TRANSLATED +HP:0032152 Hyperkeratosis pilaris NOT_TRANSLATED +HP:0032152 Lichen pilaris NOT_TRANSLATED +HP:0032154 Canker sore NOT_TRANSLATED +HP:0032156 Detached skin NOT_TRANSLATED +HP:0032156 Epidermal detachment NOT_TRANSLATED +HP:0032156 Skin sloughing NOT_TRANSLATED +HP:0032166 Unusual GI infection NOT_TRANSLATED +HP:0032167 C. difficile enteritis NOT_TRANSLATED +HP:0032169 Unusual course of infection NOT_TRANSLATED +HP:0032176 Apical cap NOT_TRANSLATED +HP:0032176 Apical pleural thickening NOT_TRANSLATED +HP:0032178 Flaky paint skin appearance NOT_TRANSLATED +HP:0032179 Abnormal circulating globulin level NOT_TRANSLATED +HP:0032182 Abnormal proportion of CD4+CD29+ cells NOT_TRANSLATED +HP:0032183 Decreased proportion of CD4+CD29+ cells NOT_TRANSLATED +HP:0032184 Increased proportion of CD4+CD29+ cells NOT_TRANSLATED +HP:0032198 Decreased INR NOT_TRANSLATED +HP:0032198 Decreased PT NOT_TRANSLATED +HP:0032198 Decreased international normalised ratio NOT_TRANSLATED +HP:0032198 Decreased international normalized ratio NOT_TRANSLATED +HP:0032199 Abnormal PT NOT_TRANSLATED +HP:0032203 Lymphonodular hyperplasia of the colon NOT_TRANSLATED +HP:0032208 Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine NOT_TRANSLATED +HP:0032208 Increased urine NTx level NOT_TRANSLATED +HP:0032209 Abnormal circulating free T3 level NOT_TRANSLATED +HP:0032209 Abnormal circulating free triiodotyronine concentration NOT_TRANSLATED +HP:0032210 Decreased circulating free triiodothyronine NOT_TRANSLATED +HP:0032218 Decreased proportion of CD4+ cells NOT_TRANSLATED +HP:0032218 Decreased proportion of CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0032218 Reduced proportion of CD4-positive cells NOT_TRANSLATED +HP:0032219 Elevated proportion of CD4-positive T cells NOT_TRANSLATED +HP:0032219 Increased proportion of CD4+ T cells NOT_TRANSLATED +HP:0032219 Increased proportion of CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0032222 Serrated polyposis NOT_TRANSLATED +HP:0032229 p-ANCA positivity NOT_TRANSLATED +HP:0032230 Anti-neutrophil cytoplasmic antibody positivity NOT_TRANSLATED +HP:0032232 Increased circulating CK MB isoform NOT_TRANSLATED +HP:0032233 Increased circulating CK BB isoform NOT_TRANSLATED +HP:0032234 Increased circulating CK MM isoform NOT_TRANSLATED +HP:0032239 Increased circulating band form neutrophils NOT_TRANSLATED +HP:0032239 Left shift NOT_TRANSLATED +HP:0032249 Valley fever NOT_TRANSLATED +HP:0032254 Elevated serum copper NOT_TRANSLATED +HP:0032254 Hypercupremia NOT_TRANSLATED +HP:0032262 Pulmonary TB NOT_TRANSLATED +HP:0032263 Increased BP NOT_TRANSLATED +HP:0032264 Presence of anti-N-methyl-D-aspartate Receptor antibody in blood NOT_TRANSLATED +HP:0032264 Presence of anti-NMDAR antibody in blood NOT_TRANSLATED +HP:0032265 Cerebrospinal fluid autoimmune antibody positivity NOT_TRANSLATED +HP:0032266 Presence of NMDAR antibody in CSF NOT_TRANSLATED +HP:0032266 Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF NOT_TRANSLATED +HP:0032266 Presence of anti-NMDAR antibody in cerebrospinal fluid NOT_TRANSLATED +HP:0032271 Extrapulmonary TB NOT_TRANSLATED +HP:0032273 Increased circulating N-acetyl aspartate level NOT_TRANSLATED +HP:0032273 Increased circulating N-acetyl aspartic acid level NOT_TRANSLATED +HP:0032273 Increased circulating N-acetyl-L-aspartic acid level NOT_TRANSLATED +HP:0032273 Increased circulating N-acetylaspartate level NOT_TRANSLATED +HP:0032273 Increased circulating NAA level NOT_TRANSLATED +HP:0032274 Increased N-acetyl aspartate levels in CSF NOT_TRANSLATED +HP:0032274 Increased N-acetyl aspartic acid levels in CSF NOT_TRANSLATED +HP:0032274 Increased N-acetyl-L-aspartic acid levels in CSF NOT_TRANSLATED +HP:0032274 Increased N-acetylaspartate levels in CSF NOT_TRANSLATED +HP:0032274 Increased NAA levels in CSF NOT_TRANSLATED +HP:0032308 Increased circulating procalcitonin level NOT_TRANSLATED +HP:0032326 MRSA infection NOT_TRANSLATED +HP:0032341 Decreased forced vital capacity NOT_TRANSLATED +HP:0032341 Reduced FVC NOT_TRANSLATED +HP:0032342 Reduced FEV1 NOT_TRANSLATED +HP:0032344 Ski-jump toenail NOT_TRANSLATED +HP:0032344 Upturned toenail NOT_TRANSLATED +HP:0032347 Macular amyloidosis NOT_TRANSLATED +HP:0032351 Increased level of phenylalanine in urine NOT_TRANSLATED +HP:0032356 Decreased pre bronchodilator forced vital capacity NOT_TRANSLATED +HP:0032356 Decreased prebronchodilator forced vital capacity NOT_TRANSLATED +HP:0032357 Decreased post bronchodilator forced vital capacity NOT_TRANSLATED +HP:0032357 Decreased postbronchodilator forced vital capacity NOT_TRANSLATED +HP:0032358 Decreased post bronchodilator forced expiratory volume in one second NOT_TRANSLATED +HP:0032358 Decreased postbronchodilator forced expiratory volume in one second NOT_TRANSLATED +HP:0032359 Decreased FEF25-75% NOT_TRANSLATED +HP:0032360 Decreased pre bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED +HP:0032360 Decreased pre-bronchodilator FEF25-75% NOT_TRANSLATED +HP:0032360 Decreased prebronchodilator forced expiratory flow 25-75% NOT_TRANSLATED +HP:0032361 Decreased post bronchodilator forced expiratory flow 25-75% NOT_TRANSLATED +HP:0032361 Decreased post-bronchodilator FEF25-75% NOT_TRANSLATED +HP:0032361 Decreased postbronchodilator forced expiratory flow 25-75% NOT_TRANSLATED +HP:0032367 Abnormal somatotropin level NOT_TRANSLATED +HP:0032371 Hyperisoleucinuria NOT_TRANSLATED +HP:0032371 Isoleucine high in urine NOT_TRANSLATED +HP:0032372 Elevated blast count NOT_TRANSLATED +HP:0032372 Elevated circulating blasts NOT_TRANSLATED +HP:0032372 Increased peripheral myeloblast count NOT_TRANSLATED +HP:0032376 Anti-B2GPI positivity NOT_TRANSLATED +HP:0032377 Increased urinary alpha-1-acid glycoprotein NOT_TRANSLATED +HP:0032379 Sun allergy NOT_TRANSLATED +HP:0032381 Acute vesiculation and crusting and scarring following sun exposure NOT_TRANSLATED +HP:0032382 UPD NOT_TRANSLATED +HP:0032385 Abnormal circulating transferrin level NOT_TRANSLATED +HP:0032386 Elevated transferrin level NOT_TRANSLATED +HP:0032387 Reduced transferrin level NOT_TRANSLATED +HP:0032395 Giant heterotopia NOT_TRANSLATED +HP:0032397 Citrulline high in urine NOT_TRANSLATED +HP:0032403 Increased level of asparagine in urine NOT_TRANSLATED +HP:0032403 Increased urine asparagine level NOT_TRANSLATED +HP:0032405 Increased level of phosphoserine in urine NOT_TRANSLATED +HP:0032408 Breast lump NOT_TRANSLATED +HP:0032410 Bilateral generalised polymicrogyria NOT_TRANSLATED +HP:0032410 Diffuse polymicrogyria NOT_TRANSLATED +HP:0032411 Occipital subcortical band heterotopia NOT_TRANSLATED +HP:0032411 Subcortical band heterotopia posterior predominant NOT_TRANSLATED +HP:0032412 Frontal subcortical band heterotopia NOT_TRANSLATED +HP:0032412 Subcortical band heterotopia anterior predominant NOT_TRANSLATED +HP:0032413 Subcortical band heterotopia diffuse NOT_TRANSLATED +HP:0032414 Hydroxylysine high in urine NOT_TRANSLATED +HP:0032417 Periglomerular fibrotic thickening NOT_TRANSLATED +HP:0032434 Delayed separation of umbilical cord NOT_TRANSLATED +HP:0032435 Omphalitis NOT_TRANSLATED +HP:0032435 Umbilical cord stump infection NOT_TRANSLATED +HP:0032436 Abnormal C-reactive protein level NOT_TRANSLATED +HP:0032437 Reduced C-reactive protein level NOT_TRANSLATED +HP:0032444 s/p organ transplantation NOT_TRANSLATED +HP:0032445 Lung cyst NOT_TRANSLATED +HP:0032446 Pulmonary bullae NOT_TRANSLATED +HP:0032451 Melanotic macule of oral mucosa NOT_TRANSLATED +HP:0032454 Labial melanotic freckle NOT_TRANSLATED +HP:0032458 Medullary cavity obliteration NOT_TRANSLATED +HP:0032458 Narrowing of bone marrow canal NOT_TRANSLATED +HP:0032458 Narrowing of bone medullary canal NOT_TRANSLATED +HP:0032458 Narrowing of the marrow cavity NOT_TRANSLATED +HP:0032463 Decreased plasma fibronectin NOT_TRANSLATED +HP:0032464 Hypoplasia of the ureter NOT_TRANSLATED +HP:0032464 Ureter hypoplasia NOT_TRANSLATED +HP:0032465 Trabecular bladder NOT_TRANSLATED +HP:0032466 Aplastic olfactory bulb NOT_TRANSLATED +HP:0032466 Olfactory bulb aplasia NOT_TRANSLATED +HP:0032467 Maternal medical history NOT_TRANSLATED +HP:0032479 Preimplantation embryonic lethality NOT_TRANSLATED +HP:0032482 Decreased pituitary glycoprotein alpha subunit level NOT_TRANSLATED +HP:0032482 Decreased pituitary glycoprotein polypeptide alpha subunit level NOT_TRANSLATED +HP:0032484 Elevated faecal sodium NOT_TRANSLATED +HP:0032485 Abnormal faecal osmolality NOT_TRANSLATED +HP:0032486 Elevated faecal osmolality NOT_TRANSLATED +HP:0032487 Reduced faecal osmolality NOT_TRANSLATED +HP:0032488 Abnormal faecal pH NOT_TRANSLATED +HP:0032489 Elevated faecal pH NOT_TRANSLATED +HP:0032489 Stool pH high NOT_TRANSLATED +HP:0032490 Decreased faecal pH NOT_TRANSLATED +HP:0032490 Stool pH low NOT_TRANSLATED +HP:0032492 Anti-MOG antibody positivity NOT_TRANSLATED +HP:0032493 Increased immunoreactive trypsinogen NOT_TRANSLATED +HP:0032500 Aggravated by tobacco use NOT_TRANSLATED +HP:0032500 Exacerbated by smoking NOT_TRANSLATED +HP:0032500 Smoking or tobacco use exacerbates symptoms NOT_TRANSLATED +HP:0032501 Contraceptive pills aggravate symptoms NOT_TRANSLATED +HP:0032502 Barbiturates produce worsening NOT_TRANSLATED +HP:0032503 Ethanol reduces manifestations NOT_TRANSLATED +HP:0032504 Barber chair phenomenon NOT_TRANSLATED +HP:0032504 Lhermitte's phenomenon NOT_TRANSLATED +HP:0032507 Fasciculations, labiomental NOT_TRANSLATED +HP:0032514 Double lacrimal puncta NOT_TRANSLATED +HP:0032514 Lacrimal punctum, duplication NOT_TRANSLATED +HP:0032521 Spasmodic upper-body squeeze NOT_TRANSLATED +HP:0032522 Immunosupressive therapy improves condition NOT_TRANSLATED +HP:0032527 Low set umbilicus NOT_TRANSLATED +HP:0032527 Low-set umbilicus NOT_TRANSLATED +HP:0032531 Gamma-aminobutyric acid (GABA) high in CSF NOT_TRANSLATED +HP:0032532 Elevated CSF GHB levels NOT_TRANSLATED +HP:0032532 Elevated CSF gamma-hydroxybutyric acid NOT_TRANSLATED +HP:0032534 Methylxanthines produce worsening NOT_TRANSLATED +HP:0032541 Knuckle pads on dorsal aspect of finger joints NOT_TRANSLATED +HP:0032545 Rigid abdomen NOT_TRANSLATED +HP:0032547 Ocular hypotony NOT_TRANSLATED +HP:0032548 Placental thickness increased NOT_TRANSLATED +HP:0032549 Persistent fencer's reflex NOT_TRANSLATED +HP:0032549 Tonic neck reflex asymmetrical and persistent NOT_TRANSLATED +HP:0032551 Haemorrhoids NOT_TRANSLATED +HP:0032551 Piles NOT_TRANSLATED +HP:0032556 Bluish around mouth NOT_TRANSLATED +HP:0032557 Status post haematopoietic stem cell transplantation NOT_TRANSLATED +HP:0032557 Status post hematopoietic stem cell transplantation NOT_TRANSLATED +HP:0032561 Small-head sperm NOT_TRANSLATED +HP:0032563 Dacryocytes NOT_TRANSLATED +HP:0032563 Tear-drop shaped erythrocytes NOT_TRANSLATED +HP:0032564 Inflammation of the ileum NOT_TRANSLATED +HP:0032567 Urinary lipid excretion NOT_TRANSLATED +HP:0032570 Pontine ischaemic lacunes NOT_TRANSLATED +HP:0032574 Elevated uridine in urine NOT_TRANSLATED +HP:0032575 Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration NOT_TRANSLATED +HP:0032588 Lack of purposeful hand use NOT_TRANSLATED +HP:0032592 Right diaphragmatic hernia NOT_TRANSLATED +HP:0032594 Denuded tubular basement membrane NOT_TRANSLATED +HP:0032605 High N/C ratio of renal tubular epithelial cells NOT_TRANSLATED +HP:0032609 Endocrinization pattern of tubular atrophy NOT_TRANSLATED +HP:0032609 Renal tubular atrophy, endocrine-type NOT_TRANSLATED +HP:0032610 Renal tubulointerstitial mycobacterial organisms NOT_TRANSLATED +HP:0032613 Renal interstitial amyloid NOT_TRANSLATED +HP:0032613 Renal interstitial amyloid deposition NOT_TRANSLATED +HP:0032613 Renal interstitial amyloidosis NOT_TRANSLATED +HP:0032615 Diffusion weighted imaging (DWI) abnormality NOT_TRANSLATED +HP:0032615 Diffusion weighted magnetic resonance imaging (DWI) abnormality NOT_TRANSLATED +HP:0032615 MRI diffusion abnormality of the cerebrum NOT_TRANSLATED +HP:0032616 Renal interstitial immunoglobulin deposition NOT_TRANSLATED +HP:0032617 Renal interstitial haemorrhage NOT_TRANSLATED +HP:0032618 Renal parenchymal necrosis NOT_TRANSLATED +HP:0032620 Renal abscess NOT_TRANSLATED +HP:0032620 Renal parenchymal abcess NOT_TRANSLATED +HP:0032621 Condensed chromatin of renal tubular epithelial cells NOT_TRANSLATED +HP:0032622 Tubular ectasia NOT_TRANSLATED +HP:0032623 Tubular casts NOT_TRANSLATED +HP:0032631 Intratubular haemoglobin casts NOT_TRANSLATED +HP:0032633 Intratubular Tamm-Horsfall (uromodulin) casts NOT_TRANSLATED +HP:0032636 Renal tubulointerstitial viral inclusions NOT_TRANSLATED +HP:0032637 Renal interstitial oedema NOT_TRANSLATED +HP:0032638 Elevated urine mevalonate NOT_TRANSLATED +HP:0032638 Elevated urine mevalonate levels NOT_TRANSLATED +HP:0032638 Elevated urine mevalonic acid NOT_TRANSLATED +HP:0032638 Mevalonate aciduria NOT_TRANSLATED +HP:0032640 Increased C-C motif chemokine ligand 18 concentration NOT_TRANSLATED +HP:0032641 Renal interstitial granulomata NOT_TRANSLATED +HP:0032642 Renal interstitial necrotizing granulomata NOT_TRANSLATED +HP:0032643 Renal interstitial non-necrotizing granulomata NOT_TRANSLATED +HP:0032649 Skew foot NOT_TRANSLATED +HP:0032649 Skew-foot NOT_TRANSLATED +HP:0032650 Elevated CSF glial fibrillary acidic protein level NOT_TRANSLATED +HP:0032651 Elevated CSF chitinase-3-like protein 1 level NOT_TRANSLATED +HP:0032652 Elevated CSF chitotriosidase 1 level NOT_TRANSLATED +HP:0032654 Endothelial dysfunction NOT_TRANSLATED +HP:0032656 Fever-induced status epilepticus NOT_TRANSLATED +HP:0032659 Subtle status epilepticus NOT_TRANSLATED +HP:0032660 Tonic-clonic status epilepticus NOT_TRANSLATED +HP:0032661 Generalised convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Focal onset seizure evolving into bilateral convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Focal-onset seizure evolving into generalised convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Focal-onset seizure evolving into generalized convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Partial onset seizure evolving into convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Partial-onset seizure evolving into convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Secondarily generalised convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Secondarily generalised tonic-clonic status epilepticus NOT_TRANSLATED +HP:0032662 Secondarily generalized convulsive status epilepticus NOT_TRANSLATED +HP:0032662 Secondarily generalized tonic-clonic status epilepticus NOT_TRANSLATED +HP:0032665 Jacksonian status epilepticus NOT_TRANSLATED +HP:0032674 Skin wound NOT_TRANSLATED +HP:0032676 Chronic nonhealing cutaneous wound NOT_TRANSLATED +HP:0032677 Generalised onset motor seizure NOT_TRANSLATED +HP:0032677 Generalised-onset motor seizure NOT_TRANSLATED +HP:0032677 Generalized onset motor seizure NOT_TRANSLATED +HP:0032679 Focal seizure without motor onset NOT_TRANSLATED +HP:0032679 Partial seizure without motor onset NOT_TRANSLATED +HP:0032680 Cognitive aura NOT_TRANSLATED +HP:0032680 Cognitive seizure NOT_TRANSLATED +HP:0032680 Partial cognitive seizure NOT_TRANSLATED +HP:0032682 Focal non-motor aware seizure NOT_TRANSLATED +HP:0032687 Amnestic aura NOT_TRANSLATED +HP:0032687 Amnestic seizure NOT_TRANSLATED +HP:0032712 Focal motor impaired awareness seizure NOT_TRANSLATED +HP:0032713 Focal motor impaired awareness seizure with version NOT_TRANSLATED +HP:0032716 Focal non-motor impaired awareness seizure NOT_TRANSLATED +HP:0032717 Focal motor impaired awareness seizure with dystonia NOT_TRANSLATED +HP:0032719 Focal motor impaired awareness seizure with dysarthria/anarthria NOT_TRANSLATED +HP:0032723 Focal motor aware seizure with dystonia NOT_TRANSLATED +HP:0032732 Focal motor aware seizure with paresis/paralysis NOT_TRANSLATED +HP:0032733 Focal motor aware seizure with dysarthria/anarthria NOT_TRANSLATED +HP:0032740 Focal autonomic seizures without altered responsiveness NOT_TRANSLATED +HP:0032740 Localised autonomic seizures without altered responsiveness NOT_TRANSLATED +HP:0032740 Localized autonomic seizures without altered responsiveness NOT_TRANSLATED +HP:0032740 Partial autonomic seizures without altered responsiveness NOT_TRANSLATED +HP:0032755 Focal autonomic seizure with altered responsiveness NOT_TRANSLATED +HP:0032755 Localised autonomic seizure with altered responsiveness NOT_TRANSLATED +HP:0032755 Localized autonomic seizure with altered responsiveness NOT_TRANSLATED +HP:0032755 Partial autonomic seizure with altered responsiveness NOT_TRANSLATED +HP:0032759 Focal vestibular seizure NOT_TRANSLATED +HP:0032759 Partial vestibular seizure NOT_TRANSLATED +HP:0032759 Vestibular aura NOT_TRANSLATED +HP:0032786 Migrating partial seizure NOT_TRANSLATED +HP:0032789 Focal aware behaviour arrest seizure NOT_TRANSLATED +HP:0032790 Focal impaired awareness behaviour arrest seizure NOT_TRANSLATED +HP:0032795 Generalised myoclonic-tonic-clonic seizure NOT_TRANSLATED +HP:0032795 Generalised onset myoclonic-tonic-clonic seizure NOT_TRANSLATED +HP:0032795 Generalised-onset myoclonic-tonic-clonic seizure NOT_TRANSLATED +HP:0032795 Generalized-onset myoclonic-tonic-clonic seizure NOT_TRANSLATED +HP:0032795 generalised onset myoclonic-tonic-clonic seizure NOT_TRANSLATED +HP:0032795 generalized onset myoclonic-tonic-clonic seizure NOT_TRANSLATED +HP:0032810 Cephalic aura NOT_TRANSLATED +HP:0032810 Focal seizure with cephalic sensation NOT_TRANSLATED +HP:0032810 Partial seizure with cephalic sensation NOT_TRANSLATED +HP:0032814 Neonatal electroclinical clonic seizure NOT_TRANSLATED +HP:0032815 Neonatal electroclinical myoclonic seizure NOT_TRANSLATED +HP:0032823 Neonatal electro-clinical seizure with behaviour arrest NOT_TRANSLATED +HP:0032823 Neonatal electroclinical seizure with behavioural arrest NOT_TRANSLATED +HP:0032825 Neonatal electroclinical sequential seizure NOT_TRANSLATED +HP:0032829 Neonatal electroclinical motor seizure with automatism NOT_TRANSLATED +HP:0032842 Generalised onset epileptic spasm NOT_TRANSLATED +HP:0032842 Generalised-onset epileptic spasm NOT_TRANSLATED +HP:0032842 Generalized onset epileptic spasm NOT_TRANSLATED +HP:0032843 Focal onset epileptic spasm NOT_TRANSLATED +HP:0032855 Photically induced myoclonic-tonic-clonic seizure NOT_TRANSLATED +HP:0032857 Focal motor aware seizure with negative myoclonus NOT_TRANSLATED +HP:0032858 Focal motor impaired awareness seizure with negative myoclonus NOT_TRANSLATED +HP:0032859 Focal motor impaired awareness seizure with paresis/paralysis NOT_TRANSLATED +HP:0032860 Absence status epilepticus NOT_TRANSLATED +HP:0032860 Generalised non-convulsive status epilepticus without coma NOT_TRANSLATED +HP:0032860 Petit mal status epilepticus NOT_TRANSLATED +HP:0032861 Focal non-convulsive status epilepticus with impairment of awareness NOT_TRANSLATED +HP:0032862 Focal inhibitory status epilepticus NOT_TRANSLATED +HP:0032863 Simple absence status epilepticus NOT_TRANSLATED +HP:0032869 Aura continua NOT_TRANSLATED +HP:0032869 Focal non-convulsive status epilepticus with retained awareness NOT_TRANSLATED +HP:0032869 Focal non-convulsive status epilepticus without impairment of awareness NOT_TRANSLATED +HP:0032887 Generalised atonic seizure NOT_TRANSLATED +HP:0032891 Focal motor aware seizure with version NOT_TRANSLATED +HP:0032894 Fever induced seizure NOT_TRANSLATED +HP:0032928 Elevated CSF neurofilament light chain NOT_TRANSLATED +HP:0032932 Elevated circulating pancreatic triacylglycerol lipase activity NOT_TRANSLATED +HP:0032936 Re-experiencing symptom NOT_TRANSLATED +HP:0032950 Abnormal renal tubular luminal morphology NOT_TRANSLATED +HP:0032952 Common-type renal tubular atrophy NOT_TRANSLATED +HP:0032957 Acanthocyturia NOT_TRANSLATED +HP:0032961 Struvite urinary crystals NOT_TRANSLATED +HP:0032966 Centriacinar emphysema NOT_TRANSLATED +HP:0032971 CT halo sign NOT_TRANSLATED +HP:0032974 Abnormal cell differential of broncho-alveolar fluid NOT_TRANSLATED +HP:0032975 Abnormal biochemical composition of broncho-alveolar fluid NOT_TRANSLATED +HP:0032975 Abnormal level of proteins in the broncho-alveolar fluid NOT_TRANSLATED +HP:0032977 Elevated level of neutrophils in broncho-alveolar lavage fluid NOT_TRANSLATED +HP:0032979 Accumulation of hemosiderin laden alveolar macrophages NOT_TRANSLATED +HP:0032979 Siderophages in bronchoalveolar fluid NOT_TRANSLATED +HP:0032983 Reversed halo sign NOT_TRANSLATED +HP:0032988 Head lag NOT_TRANSLATED +HP:0032988 Headlag NOT_TRANSLATED +HP:0032990 Localised pulmonary haemorrhage NOT_TRANSLATED +HP:0032994 increased pulmonary fissure count NOT_TRANSLATED +HP:0032995 Reduced pulmonary fissure count NOT_TRANSLATED +HP:0032999 Increased faecal porphyrin NOT_TRANSLATED +HP:0033000 Croup NOT_TRANSLATED +HP:0033000 Laryngitis NOT_TRANSLATED +HP:0033000 Pseudocroup NOT_TRANSLATED +HP:0033000 Spasmodic croup NOT_TRANSLATED +HP:0033000 Viral croup NOT_TRANSLATED +HP:0033001 Laryngeal papillomas NOT_TRANSLATED +HP:0033001 Laryngeal papillomatosis NOT_TRANSLATED +HP:0033008 Increased Z-disk width NOT_TRANSLATED +HP:0033008 Widened z-discs NOT_TRANSLATED +HP:0033009 Elevated faecal coproporphyrin 1 NOT_TRANSLATED +HP:0033009 Elevated fecal coproporphyrin 1 NOT_TRANSLATED +HP:0033009 Elevated stool coproporphyrin 1 NOT_TRANSLATED +HP:0033009 High faecal coproporphyrin 1 NOT_TRANSLATED +HP:0033009 High fecal coproporphyrin 1 NOT_TRANSLATED +HP:0033009 High stool coproporphyrin 1 NOT_TRANSLATED +HP:0033009 Increased faecal coproporphyrin 1 NOT_TRANSLATED +HP:0033010 Elevated faecal coproporphyrin 3 NOT_TRANSLATED +HP:0033010 Elevated fecal coproporphyrin 3 NOT_TRANSLATED +HP:0033010 Elevated stool coproporphyrin 3 NOT_TRANSLATED +HP:0033010 High faecal coproporphyrin 3 NOT_TRANSLATED +HP:0033010 High fecal coproporphyrin 3 NOT_TRANSLATED +HP:0033010 High stool coproporphyrin 3 NOT_TRANSLATED +HP:0033010 Increased faecal coproporphyrin 3 NOT_TRANSLATED +HP:0033016 Chronic decreased IgM in blood NOT_TRANSLATED +HP:0033017 Transient decreaseed IgD in blood NOT_TRANSLATED +HP:0033018 Chronic (near) absent IgM in blood NOT_TRANSLATED +HP:0033021 Transient decreased IgE in blood NOT_TRANSLATED +HP:0033022 Chronic decreased IgE in blood NOT_TRANSLATED +HP:0033023 Chronic (near) absent IgE in blood NOT_TRANSLATED +HP:0033025 Chronic (near) absent total IgG in blood NOT_TRANSLATED +HP:0033028 Anti-RNP-antibodies NOT_TRANSLATED +HP:0033028 Anti-Scl-34 antibody positivity NOT_TRANSLATED +HP:0033028 Anti-U1-RNP antibody positivity NOT_TRANSLATED +HP:0033028 Anti-U3 ribonucleoprotein antibody positivity NOT_TRANSLATED +HP:0033030 Anti-GBM-antibody positivity NOT_TRANSLATED +HP:0033032 Munchausen syndrome by proxy NOT_TRANSLATED +HP:0033033 Increased level of anti-melanoma differentiation-associated protein 5 antibodies NOT_TRANSLATED +HP:0033035 Abnormal neurilemmal cell morphology NOT_TRANSLATED +HP:0033035 Abnormal neurilemmocyte morphology NOT_TRANSLATED +HP:0033036 Low nasal nitric oxide level NOT_TRANSLATED +HP:0033037 Migratory polyarthritis NOT_TRANSLATED +HP:0033039 Increased level of antigen-precipitating IgG antibodies NOT_TRANSLATED +HP:0033040 Anti-Smith autoantibody NOT_TRANSLATED +HP:0033041 Hypercytokinemia NOT_TRANSLATED +HP:0033044 Regression of motor skills NOT_TRANSLATED +HP:0033045 Bipedal oedema NOT_TRANSLATED +HP:0033046 Malakoplakia NOT_TRANSLATED +HP:0033048 Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI) NOT_TRANSLATED +HP:0033050 Pharyngodynia NOT_TRANSLATED +HP:0033050 Sore throat NOT_TRANSLATED +HP:0033050 Throat discomfort NOT_TRANSLATED +HP:0033050 Throat pain NOT_TRANSLATED +HP:0033055 Ineffective planning NOT_TRANSLATED +HP:0033056 Impaired ability to organise NOT_TRANSLATED +HP:0033063 Short sleep NOT_TRANSLATED +HP:0033066 Heavy albuminuria NOT_TRANSLATED +HP:0033073 Urate tophi NOT_TRANSLATED +HP:0033074 Prednisone-responsive anaemia NOT_TRANSLATED +HP:0033074 Prednisone-responsive anemia NOT_TRANSLATED +HP:0033074 Steroid-responsive anaemia NOT_TRANSLATED +HP:0033075 Inappropriately normal TSH NOT_TRANSLATED +HP:0033076 Abnormal circulating free T4 level NOT_TRANSLATED +HP:0033076 Abnormal circulating free thyroxine level NOT_TRANSLATED +HP:0033077 Increased circulating free T4 level NOT_TRANSLATED +HP:0033078 Decreased circulating free T4 level NOT_TRANSLATED +HP:0033080 Abnormal TSH response to TRH stimulation test NOT_TRANSLATED +HP:0033088 Increased valine in urine NOT_TRANSLATED +HP:0033091 Increased tyrosine in urine NOT_TRANSLATED +HP:0033094 Increased glutamic acid in urine NOT_TRANSLATED +HP:0033095 Increased sulfur-containing amino acid level in urine NOT_TRANSLATED +HP:0033095 Increased sulphur amino acid level in urine NOT_TRANSLATED +HP:0033098 Elevated urinary non-proteinogenic amino acid level NOT_TRANSLATED +HP:0033102 Monkey wrench appearance of femoral neck NOT_TRANSLATED +HP:0033102 Monkey wrench configuration of the proximal femur NOT_TRANSLATED +HP:0033102 Swedish key appearance of femoral neck NOT_TRANSLATED +HP:0033102 Swedish key configuration of the proximal femur NOT_TRANSLATED +HP:0033103 Elevated circulating YKL40 level NOT_TRANSLATED +HP:0033103 Elevated circulating chitinase 3-like 1 level NOT_TRANSLATED +HP:0033105 Hypothalamic adhesion NOT_TRANSLATED +HP:0033106 Elevated D-dimers NOT_TRANSLATED +HP:0033106 Elevated fibrin degradation fragment concentration NOT_TRANSLATED +HP:0033110 Elevated circulating homoalanine concentration NOT_TRANSLATED +HP:0033111 Increased urine 3-hydroxyisovaleric acid level NOT_TRANSLATED +HP:0033112 Elevated APOC3 level NOT_TRANSLATED +HP:0033112 Elevated apolipoprotein C-III level NOT_TRANSLATED +HP:0033113 Triple rhythm NOT_TRANSLATED +HP:0033117 Duodenal inflammation NOT_TRANSLATED +HP:0033120 Discoid eczema NOT_TRANSLATED +HP:0033120 Nummular dermatitis NOT_TRANSLATED +HP:0033121 Seal-like barking cough NOT_TRANSLATED +HP:0033122 Absence of P wave on electrocardiography NOT_TRANSLATED +HP:0033126 Skin necrosis NOT_TRANSLATED +HP:0033131 Increased renal medullary echogenicity NOT_TRANSLATED +HP:0033133 Hypoechogenic renal cortex NOT_TRANSLATED +HP:0033134 Intra-abdominal adhesion NOT_TRANSLATED +HP:0033148 Increased circulating isovalerate NOT_TRANSLATED +HP:0033148 Isovalericacidemia NOT_TRANSLATED +HP:0033149 Dilatation of intrahepatic biliary ducts NOT_TRANSLATED +HP:0033153 Elevated plasma dodecenoylcarnitine concentration NOT_TRANSLATED +HP:0033158 Dminished respiratory ciliary beat frequency NOT_TRANSLATED +HP:0033169 Reduced TLC NOT_TRANSLATED +HP:0033175 Elevated circulating L-pyroglutamic acid concentration NOT_TRANSLATED +HP:0033176 Submandibular lymphadenopathy NOT_TRANSLATED +HP:0033178 Increased serum IL-8 NOT_TRANSLATED +HP:0033178 Increased serum interleukin 8 NOT_TRANSLATED +HP:0033178 Increased serum interleukin-8 NOT_TRANSLATED +HP:0033180 Twisted vestigial remnant of the Muellerian duct NOT_TRANSLATED +HP:0033181 A severe pyogenic infection of the epidural space NOT_TRANSLATED +HP:0033185 Triggered by Epstein Barr virus infection NOT_TRANSLATED +HP:0033187 Imidodipeptiduria NOT_TRANSLATED +HP:0033189 Long dental root NOT_TRANSLATED +HP:0033189 Rhizomegaly NOT_TRANSLATED +HP:0033189 Root gigantism NOT_TRANSLATED +HP:0033190 Cutaneous hyperpigmentation with overlying hypertrichosis NOT_TRANSLATED +HP:0033193 Ballooning degeneration of hepatocytes NOT_TRANSLATED +HP:0033196 Hepatic portal inflammation NOT_TRANSLATED +HP:0033199 Increased serum interleukin 10 NOT_TRANSLATED +HP:0033200 Hyporeflexia of triceps NOT_TRANSLATED +HP:0033201 Hyporeflexia of biceps NOT_TRANSLATED +HP:0033206 Hyperactive ankle jerk reflex NOT_TRANSLATED +HP:0033206 Hyperactive ankle reflex NOT_TRANSLATED +HP:0033213 Elevated urine octanedioic acid level NOT_TRANSLATED +HP:0033220 Elevated urinary 2-ethylhydracylic acid NOT_TRANSLATED +HP:0033220 Elevated urinary 2-methylbutyrylglycine NOT_TRANSLATED +HP:0033222 Inverted CD4/CD8 ratio NOT_TRANSLATED +HP:0033222 Inverted CD4:CD8 ratio NOT_TRANSLATED +HP:0033224 Hyperplasia of the glomerular parietal epithelial cell NOT_TRANSLATED +HP:0033225 Hypertrophy of the glomerular parietal epithelial cell NOT_TRANSLATED +HP:0033226 Capsular hyaline drops within Bowman's capsule NOT_TRANSLATED +HP:0033228 Areflexia of triceps NOT_TRANSLATED +HP:0033229 Areflexia of brachioradialis NOT_TRANSLATED +HP:0033230 Areflexia of biceps NOT_TRANSLATED +HP:0033235 Difficulty walking down stairs NOT_TRANSLATED +HP:0033236 Central fatigue NOT_TRANSLATED +HP:0033237 Detachment of visceral epithelial cells NOT_TRANSLATED +HP:0033237 Podocyte detachment NOT_TRANSLATED +HP:0033239 Podocyte cap NOT_TRANSLATED +HP:0033240 Hyperinflation on pulmonary function test NOT_TRANSLATED +HP:0033240 Overinflation on pulmonary function test NOT_TRANSLATED +HP:0033245 Abnormal alveolar epithelial type II cell morphology NOT_TRANSLATED +HP:0033245 Abnormal pulmonary type II cell morphology NOT_TRANSLATED +HP:0033245 Abnormal type II pneumocyte morphology NOT_TRANSLATED +HP:0033246 Hypertrophic alveolar type II cells NOT_TRANSLATED +HP:0033246 Hypertrophic alveolar type II pneumocytes NOT_TRANSLATED +HP:0033249 Focal substantia nigra T2 hyperintense lesion NOT_TRANSLATED +HP:0033251 Elevated RV NOT_TRANSLATED +HP:0033253 Reduced circulating interferon gamma NOT_TRANSLATED +HP:0033254 Stricture of the anorectum NOT_TRANSLATED +HP:0033255 Congenital lobar emphysema NOT_TRANSLATED +HP:0033257 Delayed ability to cruise NOT_TRANSLATED +HP:0033258 SUDEP NOT_TRANSLATED +HP:0033262 Transphyseal distal humerus fracture NOT_TRANSLATED +HP:0033263 Absent platelet dense bodies NOT_TRANSLATED +HP:0033265 Podocyte myelin inclusions NOT_TRANSLATED +HP:0033269 Collapse of glomerular capillary walls NOT_TRANSLATED +HP:0033270 Glomerular congestion NOT_TRANSLATED +HP:0033296 Binucleated podocytes NOT_TRANSLATED +HP:0033297 Multinucleated podocytes NOT_TRANSLATED +HP:0033297 Podocyte multinucleation NOT_TRANSLATED +HP:0033313 Collagenization of the urinary space NOT_TRANSLATED +HP:0033314 Hyperplasia of visceral epithelial cells NOT_TRANSLATED +HP:0033314 Podocyte hyperplasia NOT_TRANSLATED +HP:0033329 Abnormal postural reaction NOT_TRANSLATED +HP:0033336 Failure of zygotic cell division NOT_TRANSLATED +HP:0033341 Elevated circulating beta-sitosterol concentration NOT_TRANSLATED +HP:0033342 Anti-AQP4 antibody positivity NOT_TRANSLATED +HP:0033343 Mucous diarrhea NOT_TRANSLATED +HP:0033343 Mucous diarrhoea NOT_TRANSLATED +HP:0033346 Psychic aura NOT_TRANSLATED +HP:0033349 Acute repetitive seizures NOT_TRANSLATED +HP:0033349 Crescendo seizures NOT_TRANSLATED +HP:0033349 Cyclical seizures NOT_TRANSLATED +HP:0033349 Recurrent seizures NOT_TRANSLATED +HP:0033349 Seizure flurries NOT_TRANSLATED +HP:0033349 Serial seizures NOT_TRANSLATED +HP:0033350 Elevated FEV1 NOT_TRANSLATED +HP:0033351 Esophageal candidiasis NOT_TRANSLATED +HP:0033352 Pulmonary arterial hypertension crisis NOT_TRANSLATED +HP:0033355 Elevated urinary DPD NOT_TRANSLATED +HP:0033360 Impaired task shifting NOT_TRANSLATED +HP:0033370 Endobronchial telangiectasia NOT_TRANSLATED +HP:0033379 Bilateral SVC NOT_TRANSLATED +HP:0033380 Nose chondritis NOT_TRANSLATED +HP:0033383 Decreased CMAP amplitude NOT_TRANSLATED +HP:0033385 Elevated urine hydroxylysyl-pyridinoline level NOT_TRANSLATED +HP:0033390 Bronchial artery enlargement NOT_TRANSLATED +HP:0033390 Dilatation of a bronchial artery NOT_TRANSLATED +HP:0033392 Perivascular inflammation of arterioles in the pulmonary circulation NOT_TRANSLATED +HP:0033392 Perivascular inflammation of pre-capillary pulmonary arteries NOT_TRANSLATED +HP:0033393 Sperm flagella with irregular caliber NOT_TRANSLATED +HP:0033393 Sperm flagella with irregular calibre NOT_TRANSLATED +HP:0033400 Acute abdominal pain NOT_TRANSLATED +HP:0033412 Akinesia of the upper extremities NOT_TRANSLATED +HP:0033413 Hypokinesia of the upper extremities NOT_TRANSLATED +HP:0033414 Hypokinesia of the lower extremities NOT_TRANSLATED +HP:0033426 Venous air embolism NOT_TRANSLATED +HP:0033431 CMV colitis NOT_TRANSLATED +HP:0033433 Ileo-cecal ulcer NOT_TRANSLATED +HP:0033434 Nasal-septum perforation NOT_TRANSLATED +HP:0033434 Perforation of the nasal septum NOT_TRANSLATED +HP:0033437 Increased circulating alpha-ketoisocaproic acid concentration NOT_TRANSLATED +HP:0033439 Elevated circulating O-decenoylcarnitine concentration NOT_TRANSLATED +HP:0033439 Elevated plasma decenoylcarnitine, C10:1 NOT_TRANSLATED +HP:0033440 Elevated circulating O-octenoylcarnitine concentration NOT_TRANSLATED +HP:0033440 Elevated plasma octenoylcarnitine, C8:1 NOT_TRANSLATED +HP:0033441 Elevated circulating O-hexanoylcarnitine concentration NOT_TRANSLATED +HP:0033441 Elevated plasma hexanoylcarnitine, C6:0 NOT_TRANSLATED +HP:0033442 Elevated circulating O-glutarylcarnitine concentration NOT_TRANSLATED +HP:0033442 Elevated plasma glutarylcarnitine, C5-DC NOT_TRANSLATED +HP:0033444 Elevated circulating O-dodecanoylcarnitine concentration NOT_TRANSLATED +HP:0033444 Elevated plasma dodecanoylcarnitine, C12:0 NOT_TRANSLATED +HP:0033446 Elevated circulating O-butyrylcarnitine concentration NOT_TRANSLATED +HP:0033447 Elevated circulating O-isovalerylcarnitine concentration NOT_TRANSLATED +HP:0033458 Increased urine alpha-ketoisocaproic acid level NOT_TRANSLATED +HP:0033459 Decreased apolipoprotein level NOT_TRANSLATED +HP:0033461 Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH NOT_TRANSLATED +HP:0033462 Elevated plasma oleylcarnitine, C18:1 NOT_TRANSLATED +HP:0033464 Elevated circulating 3-OH-palmitoleylcarnitine concentration NOT_TRANSLATED +HP:0033464 Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH NOT_TRANSLATED +HP:0033465 Elevated circulating C14 carnitine concentration NOT_TRANSLATED +HP:0033465 Elevated circulating myristoylcarnitine concentration NOT_TRANSLATED +HP:0033478 Elevated lipoprotein lipase level NOT_TRANSLATED +HP:0033484 Elevated plasma linoleylcarnitine, C18:2 NOT_TRANSLATED +HP:0033485 Disruption of the glomerular basement membrane NOT_TRANSLATED +HP:0033485 Glomerular basement membrane rupture NOT_TRANSLATED +HP:0033487 Glomerular basement membranes with powdery deposit NOT_TRANSLATED +HP:0033488 Glomerular endocapillary hypercellularity consisting of leukocytes NOT_TRANSLATED +HP:0033493 Increased glomerular mesangial matrix NOT_TRANSLATED +HP:0033496 Segmental glomerulosclerosis, perihilar pattern NOT_TRANSLATED +HP:0033497 Segmental glomerulosclerosis, tip variant NOT_TRANSLATED +HP:0033508 Epstein-Barr virus meningitis NOT_TRANSLATED +HP:0033509 Epstein-Barr virus encephalitis NOT_TRANSLATED +HP:0033510 Cornu cutaneum NOT_TRANSLATED +HP:0033512 Stimulant dependence NOT_TRANSLATED +HP:0033513 Cocaine dependence NOT_TRANSLATED +HP:0033514 Amphetamine dependence NOT_TRANSLATED +HP:0033514 Dextroamphetamine addiction NOT_TRANSLATED +HP:0033514 Dextroamphetamine dependence NOT_TRANSLATED +HP:0033515 Opioid dependence NOT_TRANSLATED +HP:0033516 Benzodiazepine dependence NOT_TRANSLATED +HP:0033517 Heroin dependence NOT_TRANSLATED +HP:0033518 Methylphenidate dependence NOT_TRANSLATED +HP:0033519 Methamphetamine dependence NOT_TRANSLATED +HP:0033525 Absent central pair complex (9+0 pattern) NOT_TRANSLATED +HP:0033526 Heel cord tightness NOT_TRANSLATED +HP:0033526 Tight heel cord NOT_TRANSLATED +HP:0033527 Decreased plasma testosterone-to-androstenedione ratio NOT_TRANSLATED +HP:0033534 Elevated circulating BNP concentration NOT_TRANSLATED +HP:0033534 Increased B-type natriuretic peptide NOT_TRANSLATED +HP:0033534 Increased ventricular natriuretic peptide NOT_TRANSLATED +HP:0033538 Aortic annular calcification NOT_TRANSLATED +HP:0033540 Reversible pulmonary obstruction NOT_TRANSLATED +HP:0033541 Irreversible pulmonary obstruction NOT_TRANSLATED +HP:0033542 Peribronchial cuffing NOT_TRANSLATED +HP:0033542 Peribronchial thickening NOT_TRANSLATED +HP:0033543 Nicotine dependence NOT_TRANSLATED +HP:0033550 Caseating pulmonary granulomatosis NOT_TRANSLATED +HP:0033551 Non-caseating pulmonary granulomatosis NOT_TRANSLATED +HP:0033552 Chronic villitis (non-infectious) NOT_TRANSLATED +HP:0033552 Nonspecific chronic villitis NOT_TRANSLATED +HP:0033552 Villitis of unknown aetiology NOT_TRANSLATED +HP:0033552 Villitis of unknown etiology NOT_TRANSLATED +HP:0033553 Septic emboli NOT_TRANSLATED +HP:0033555 Anti-Ro/SSA antibody positivity NOT_TRANSLATED +HP:0033556 Anti-p62 antibody positivity NOT_TRANSLATED +HP:0033557 Anti-PR3 antibody positivity NOT_TRANSLATED +HP:0033559 Anti-MPO antibody positivity NOT_TRANSLATED +HP:0033560 Anti-PM/Scl antibody positivity NOT_TRANSLATED +HP:0033561 Anti-BPI antibody positivity NOT_TRANSLATED +HP:0033562 Anti-gp210 antibody positivity NOT_TRANSLATED +HP:0033563 Anti-tTG antibody positivity NOT_TRANSLATED +HP:0033564 Varicose eczema NOT_TRANSLATED +HP:0033564 Venous eczema NOT_TRANSLATED +HP:0033565 Anti-TG3 antibody NOT_TRANSLATED +HP:0033565 Anti-eTG antibody positivity NOT_TRANSLATED +HP:0033565 Anti-epidermal transglutaminase (anti-eTG) antibody NOT_TRANSLATED +HP:0033565 Anti-keratinocyte transglutaminase NOT_TRANSLATED +HP:0033566 Abnormal QRS axis NOT_TRANSLATED +HP:0033567 Electrical right axis deviation NOT_TRANSLATED +HP:0033567 RAD NOT_TRANSLATED +HP:0033568 Electrical left axis deviation NOT_TRANSLATED +HP:0033578 Precapillary pulmonary hypertension NOT_TRANSLATED +HP:0033579 Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge NOT_TRANSLATED +HP:0033584 NSIP NOT_TRANSLATED +HP:0033584 Nonspecific interstitial pneumonitis NOT_TRANSLATED +HP:0033584 Temporally uniform pulmonary inflammation NOT_TRANSLATED +HP:0033588 Labial agglutination NOT_TRANSLATED +HP:0033588 Synechia vulvae NOT_TRANSLATED +HP:0033590 Groin abscess NOT_TRANSLATED +HP:0033591 Staghorn renal stone NOT_TRANSLATED +HP:0033594 Primapterinuria NOT_TRANSLATED +HP:0033595 Elevated circulating ceramidetrihexoside concentration NOT_TRANSLATED +HP:0033605 Pustulosis NOT_TRANSLATED +HP:0033606 Haematopoietic maturation arrest NOT_TRANSLATED +HP:0033606 Hematopoietic maturation arrest NOT_TRANSLATED +HP:0033608 Spot on the lung NOT_TRANSLATED +HP:0033618 Bronchus suis NOT_TRANSLATED +HP:0033618 Pig bronchus NOT_TRANSLATED +HP:0033624 History of congenital cytomegalovirus infection NOT_TRANSLATED +HP:0033626 Elevated non-HDL cholesterol concentration NOT_TRANSLATED +HP:0033630 Mental clouding NOT_TRANSLATED +HP:0033630 Mental fatigue NOT_TRANSLATED +HP:0033630 Mental fog NOT_TRANSLATED +HP:0033635 Postcapillary pulmonary hypertension NOT_TRANSLATED +HP:0033637 Anti-transglutaminase 2 antibody positivity NOT_TRANSLATED +HP:0033638 Intralobular lines NOT_TRANSLATED +HP:0033639 Septic pulmonary emboli NOT_TRANSLATED +HP:0033641 Aortic cusp calcification NOT_TRANSLATED +HP:0033641 Aortic valve cusp calcification NOT_TRANSLATED +HP:0033643 Increased plasma levels of very long-chain fatty acid NOT_TRANSLATED +HP:0033644 Elevated circulating erythropoietin NOT_TRANSLATED +HP:0033646 Agenesis of the hippocampal commissure NOT_TRANSLATED +HP:0033649 Distal acinar emphysema NOT_TRANSLATED +HP:0033651 Lung fungus ball NOT_TRANSLATED +HP:0033655 Pulmonary cavern NOT_TRANSLATED +HP:0033657 Discoid atelectasis NOT_TRANSLATED +HP:0033657 Platelike atelectasis NOT_TRANSLATED +HP:0033658 Blesovsky syndrome NOT_TRANSLATED +HP:0033658 Comet tail sign NOT_TRANSLATED +HP:0033658 Folded lung syndrome NOT_TRANSLATED +HP:0033658 Helical atelectasis NOT_TRANSLATED +HP:0033658 Pleural pseudotumor NOT_TRANSLATED +HP:0033658 Pleuroma NOT_TRANSLATED +HP:0033660 Hand tingling NOT_TRANSLATED +HP:0033666 Decline in physical functional health NOT_TRANSLATED +HP:0033666 Diminished physical health NOT_TRANSLATED +HP:0033667 Mental impairment NOT_TRANSLATED +HP:0033667 Reduced mental health NOT_TRANSLATED +HP:0033668 Abnormal morphology of the amygdala NOT_TRANSLATED +HP:0033669 Amygdalar enlargement NOT_TRANSLATED +HP:0033672 Positive carpal Hoffmann Tinel sign NOT_TRANSLATED +HP:0033673 Phalen maneuver NOT_TRANSLATED +HP:0033673 Phalen manoeuvre NOT_TRANSLATED +HP:0033676 PTSD NOT_TRANSLATED +HP:0033677 ARDS NOT_TRANSLATED +HP:0033683 Brisk jaw jerk NOT_TRANSLATED +HP:0033685 Fibre type grouping NOT_TRANSLATED +HP:0033686 Megamitochondria NOT_TRANSLATED +HP:0033687 Short term memory loss NOT_TRANSLATED +HP:0033688 Long term memory loss NOT_TRANSLATED +HP:0033689 Anterograde amnesia NOT_TRANSLATED +HP:0033690 Retrograde amnesia NOT_TRANSLATED +HP:0033691 Impaired procedural memory NOT_TRANSLATED +HP:0033691 Procedural memory deficit NOT_TRANSLATED +HP:0033692 Impaired declarative memory NOT_TRANSLATED +HP:0033693 Olfactory hallucination NOT_TRANSLATED +HP:0033693 Phantom odor NOT_TRANSLATED +HP:0033693 Phantom odour NOT_TRANSLATED +HP:0033693 Phantom smell NOT_TRANSLATED +HP:0033694 Tactile hallucinations NOT_TRANSLATED +HP:0033696 Chilblain-like lesion NOT_TRANSLATED +HP:0033700 Papulo-vesicular eruption NOT_TRANSLATED +HP:0033703 DNET NOT_TRANSLATED +HP:0033703 DNT NOT_TRANSLATED +HP:0033708 Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies NOT_TRANSLATED +HP:0033708 Anti-HMGCR autoantibodies NOT_TRANSLATED +HP:0033709 Increased phlegm NOT_TRANSLATED +HP:0033710 Breathlessness at rest NOT_TRANSLATED +HP:0033710 Dyspnea at rest NOT_TRANSLATED +HP:0033710 Dyspnoea at rest NOT_TRANSLATED +HP:0033710 Shortness of breath at rest NOT_TRANSLATED +HP:0033712 Recurrent implantation failure NOT_TRANSLATED +HP:0033713 Anti-SRP antibody positivity NOT_TRANSLATED +HP:0033714 Multifocal meningiomata NOT_TRANSLATED +HP:0033714 Multiple meningiomata NOT_TRANSLATED +HP:0033715 Mesial temporal sclerosis NOT_TRANSLATED +HP:0033722 Autonomic aura NOT_TRANSLATED +HP:0033722 Autonomic auras NOT_TRANSLATED +HP:0033722 Vegetative aura NOT_TRANSLATED +HP:0033723 Abnormal dural venous sinus morphology NOT_TRANSLATED +HP:0033723 Abnormality of the cerebral venous sinuses NOT_TRANSLATED +HP:0033725 Small corpus callosum NOT_TRANSLATED +HP:0033725 Thinning of the corpus callosum NOT_TRANSLATED +HP:0033727 Class IV lupus nephritis NOT_TRANSLATED +HP:0033728 Class II lupus nephritis NOT_TRANSLATED +HP:0033729 Class I lupus nephritis NOT_TRANSLATED +HP:0033730 Class V lupus nephritis NOT_TRANSLATED +HP:0033731 Class III lupus nephritis NOT_TRANSLATED +HP:0033732 Class VI lupus nephritis NOT_TRANSLATED +HP:0033735 Grade I VUR NOT_TRANSLATED +HP:0033735 VUR I NOT_TRANSLATED +HP:0033736 Grade II VUR NOT_TRANSLATED +HP:0033736 VUR II NOT_TRANSLATED +HP:0033737 Grade III VUR NOT_TRANSLATED +HP:0033737 VUR III NOT_TRANSLATED +HP:0033740 Grade V VUR NOT_TRANSLATED +HP:0033740 VUR V NOT_TRANSLATED +HP:0033741 Grade IV VUR NOT_TRANSLATED +HP:0033741 VUR IV NOT_TRANSLATED +HP:0033746 Pain between shoulder blades NOT_TRANSLATED +HP:0033748 Hypoaesthesia NOT_TRANSLATED +HP:0033748 Numbness NOT_TRANSLATED +HP:0033757 Fatty pancreas NOT_TRANSLATED +HP:0033757 Non-alcoholic fatty pancreatic disease NOT_TRANSLATED +HP:0033757 Pancreatic fatty infiltration NOT_TRANSLATED +HP:0033757 Pancreatic fatty replacement NOT_TRANSLATED +HP:0033757 Pancreatic lipomatosis NOT_TRANSLATED +HP:0033757 Pancreatic lipomatous pseudohypertrophy NOT_TRANSLATED +HP:0033758 Abscess of the labia NOT_TRANSLATED +HP:0033768 Penile candidiasis NOT_TRANSLATED +HP:0033769 Fundic gland polyps NOT_TRANSLATED +HP:0033769 Gastric polyposis NOT_TRANSLATED +HP:0033769 Proximal polyposis of the stomach NOT_TRANSLATED +HP:0033777 Additional cusp NOT_TRANSLATED +HP:0033777 Extra cusp NOT_TRANSLATED +HP:0033782 Crescent-shape tooth NOT_TRANSLATED +HP:0033782 Hutchinson incisor NOT_TRANSLATED +HP:0033782 Semicircular tooth NOT_TRANSLATED +HP:0033782 Tooth, semilunar NOT_TRANSLATED +HP:0033786 Enamel opacity NOT_TRANSLATED +HP:0033787 Cementum aplasia NOT_TRANSLATED +HP:0033788 Cementation hyperplasia NOT_TRANSLATED +HP:0033788 Cementum hypertrophy NOT_TRANSLATED +HP:0033788 Cementum overdeveloped NOT_TRANSLATED +HP:0033788 Drumstick-shaped root NOT_TRANSLATED +HP:0033788 Hypercementosis NOT_TRANSLATED +HP:0033790 Flame-shaped pulp NOT_TRANSLATED +HP:0033794 Acral enlargement NOT_TRANSLATED +HP:0033794 Acral hypertrophy NOT_TRANSLATED +HP:0033794 Acromegalic growth NOT_TRANSLATED +HP:0033794 Acromegaly NOT_TRANSLATED +HP:0033797 Abnormal leukocyte migration NOT_TRANSLATED +HP:0033797 Defects of leukocyte migration NOT_TRANSLATED +HP:0033799 Abnormal circulating gonadal steroid concentration NOT_TRANSLATED +HP:0033799 Abnormal circulating gonadocorticoid concentration NOT_TRANSLATED +HP:0033799 Abnormal circulating sex steroid concentration NOT_TRANSLATED +HP:0033803 Blistering with sub-lamina densa plane of cleavage NOT_TRANSLATED +HP:0033832 Livedoid dermatitis NOT_TRANSLATED +HP:0033833 Elevated circulating interleukin-2 receptor alpha-chain NOT_TRANSLATED +HP:0033836 Abnormal kidney arterial blood vessel morphology NOT_TRANSLATED +HP:0033837 Abnormalities of arcuate arteries NOT_TRANSLATED +HP:0033839 Pain in testicles NOT_TRANSLATED +HP:0033841 Itchy eyes NOT_TRANSLATED +HP:0033841 Ocular itch NOT_TRANSLATED +HP:0033842 Feeling full quickly when eating NOT_TRANSLATED +HP:0033842 Not able to finish a normal-sized meal NOT_TRANSLATED +HP:0033844 Racing thoughts NOT_TRANSLATED +HP:0033845 Sense of doom NOT_TRANSLATED +HP:0033847 Phantom taste NOT_TRANSLATED +HP:0033848 Fluent aphasia NOT_TRANSLATED +HP:0033848 Wernicke aphasia NOT_TRANSLATED +HP:0033850 Cold skin temperature NOT_TRANSLATED +HP:0033850 Cool skin NOT_TRANSLATED +HP:0033850 Cool skin temperature NOT_TRANSLATED +HP:0033850 Coolness to palpation NOT_TRANSLATED +HP:0033855 Abnormal morphology of the interlobular vein lumen NOT_TRANSLATED +HP:0033861 Multilamellation of basement membranes within cortical peritubular capillaries NOT_TRANSLATED +HP:0033867 Multilamellation of basement membranes within medullary peritubular capillaries NOT_TRANSLATED +HP:0033869 Cholesterol emboli within the medullary peritubular capillary lumen NOT_TRANSLATED +HP:0033870 Intraluminal thrombi within medullary peritubular capillaries NOT_TRANSLATED +HP:0033871 Organized thrombi within the medullary peritubular capillary lumen NOT_TRANSLATED +HP:0033873 Intraluminal thrombi within cortical peritubular capillaries NOT_TRANSLATED +HP:0033876 Cholesterol emboli within arcuate vein lumen NOT_TRANSLATED +HP:0033877 Intraluminal thrombi within arcuate veins NOT_TRANSLATED +HP:0033878 Organized thrombi within arcuate vein lumen NOT_TRANSLATED +HP:0033880 Intimal mucoid edema within arcuate veins NOT_TRANSLATED +HP:0033881 Myxomatous change within arcuate vein intima/media NOT_TRANSLATED +HP:0033882 Amyloidosis within arcuate vein intima/media NOT_TRANSLATED +HP:0033883 Abnormal interlobular artery morphology NOT_TRANSLATED +HP:0033884 Abnormal interlobular arterial lumen morphology NOT_TRANSLATED +HP:0033886 Abnormalities of the arcuate arterial intima/media NOT_TRANSLATED +HP:0033887 Amyloidosis within interlobular arterial intima/media NOT_TRANSLATED +HP:0033887 Interlobular arterial intima/media amyloidosis NOT_TRANSLATED +HP:0033888 Abnormalities of the interlobular arterial intima/media NOT_TRANSLATED +HP:0033891 Cholesterol emboli within the arteriolar lumen NOT_TRANSLATED +HP:0033896 Abnormalities of the arcuate arterial lumen NOT_TRANSLATED +HP:0033897 Cholesterol emboli within arcuate arterial lumen NOT_TRANSLATED +HP:0033898 Intraluminal thrombi within arcuate arterial lumen NOT_TRANSLATED +HP:0033899 Organized thrombi within arcuate arterial lumen NOT_TRANSLATED +HP:0033900 Amyloidosis within renal arteriolar intima/media NOT_TRANSLATED +HP:0033902 Endotheliosis within arcuate arteries NOT_TRANSLATED +HP:0033903 Endoarterial hypercellularity within arcuate artery NOT_TRANSLATED +HP:0033905 Arteriosclerosis within arcuate arterial intima/media NOT_TRANSLATED +HP:0033909 Medial hypertrophy within arcuate veins NOT_TRANSLATED +HP:0033910 Medial atrophy within arcuate veins NOT_TRANSLATED +HP:0033911 Interlobular artery medial hypertrophy NOT_TRANSLATED +HP:0033911 Medial hypertrophy within interlobular arteries NOT_TRANSLATED +HP:0033912 Interlobular artery medial atrophy NOT_TRANSLATED +HP:0033912 Medial atrophy within interlobular arteries NOT_TRANSLATED +HP:0033913 Arteritis within interlobular arterial intima/media NOT_TRANSLATED +HP:0033913 Interlobular artery medial/intimal arteriitis NOT_TRANSLATED +HP:0033914 Amyloidosis within arcuate arterial intima/media NOT_TRANSLATED +HP:0033917 Venulitis within arcuate vein intima/media NOT_TRANSLATED +HP:0033918 Medial hypertrophy within arterioles NOT_TRANSLATED +HP:0033920 Accumulated storage material within arteriolar intima/media NOT_TRANSLATED +HP:0033921 Endoarterial hypercellularity within arterioles NOT_TRANSLATED +HP:0033923 Endoarterial hypercellularity within arterioles consisting of foam cells NOT_TRANSLATED +HP:0033924 Endoarterial hypercellularity within arterioles consisting of neutrophils NOT_TRANSLATED +HP:0033925 Endoarterial hypercellularity within arterioles consisting of lymphocytes NOT_TRANSLATED +HP:0033926 Multilamellation (onion skinning) within renal arteriole intima/media NOT_TRANSLATED +HP:0033926 Renal arteriole intima/media multilamellation NOT_TRANSLATED +HP:0033926 Renal arteriole intimal/medial onion skinning NOT_TRANSLATED +HP:0033927 Endoarterial hypercellularity within arcuate artery consisting of leukocytes NOT_TRANSLATED +HP:0033928 Endoarterial hypercellularity within arcuate artery consisting of foam cells NOT_TRANSLATED +HP:0033929 Endoarterial hypercellularity within arcuate artery consisting of neutrophils NOT_TRANSLATED +HP:0033930 Endoarterial hypercellularity within arcuate artery consisting of lymphocytes NOT_TRANSLATED +HP:0033932 Coagulative necrosis within interlobular arterial intima/media NOT_TRANSLATED +HP:0033933 Liquefactive necrosis of the arcuate artery intima/media NOT_TRANSLATED +HP:0033934 Multilamellation (onion skinning) within arteriolar intima/media NOT_TRANSLATED +HP:0033934 Renal arteriole intima/media onion skinning NOT_TRANSLATED +HP:0033935 Necrosis within interlobular arterial intima/media NOT_TRANSLATED +HP:0033936 Liquefactive necrosis within interlobular arterial intima/media NOT_TRANSLATED +HP:0033939 Liquefactive necrosis of the renal arteriolar intima/media NOT_TRANSLATED +HP:0033941 Granulomatous arteriolitis within arteriolar intima/media NOT_TRANSLATED +HP:0033942 Necrosis within arcuate vein intima/media NOT_TRANSLATED +HP:0033943 Coagulative necrosis within arcuate vein intima/media NOT_TRANSLATED +HP:0033944 Liquefactive necrosis within arcuate vein intima/media NOT_TRANSLATED +HP:0033947 Accumulated crystals within renal arteriolar intima/media NOT_TRANSLATED +HP:0033948 Arteritis within arcuate arterial intima/media NOT_TRANSLATED +HP:0033949 Granulomatous arteritis within arcuate arterial intima/media NOT_TRANSLATED +HP:0033950 Intraluminal thrombi within interlobular arterial lumen NOT_TRANSLATED +HP:0033951 Organized thrombi within interlobular arterial lumen NOT_TRANSLATED +HP:0033952 Abnormalities of the interlobular arterial endothelium NOT_TRANSLATED +HP:0033953 Endotheliosis within interlobular arteries NOT_TRANSLATED +HP:0033954 Endoarterial hypercellularity within interlobular artery NOT_TRANSLATED +HP:0033955 Endoarterial hypercellularity within interlobular artery consisting of leukocytes NOT_TRANSLATED +HP:0033956 Endoarterial hypercellularity within interlobular artery consisting of lymphocytes NOT_TRANSLATED +HP:0033957 Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils NOT_TRANSLATED +HP:0033958 Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells NOT_TRANSLATED +HP:0033959 Arteriosclerosis within interlobular arterial intima/media NOT_TRANSLATED +HP:0033960 Intimal mucoid edema within interlobular arterial intima/media NOT_TRANSLATED +HP:0033961 Cortical radial artery intima/media onion skinning NOT_TRANSLATED +HP:0033961 Multilamellation (onion skinning) within interlobular arterial intima/media NOT_TRANSLATED +HP:0033964 Venosclerosis within interlobular vein intima/media NOT_TRANSLATED +HP:0033965 Intimal mucoid edema within interlobular veins NOT_TRANSLATED +HP:0033966 Amyloidosis within interlobular vein intima/media NOT_TRANSLATED +HP:0033967 Venulitis within interlobular vein intima/media NOT_TRANSLATED +HP:0033968 Granulomatous venulitis within interlobular vein intima/media NOT_TRANSLATED +HP:0033969 Necrosis within interlobular vein intima/media NOT_TRANSLATED +HP:0033970 Liquefactive necrosis within interlobular vein intima/media NOT_TRANSLATED +HP:0033972 Medial atrophy within interlobular veins NOT_TRANSLATED +HP:0033973 Medial hypertrophy within interlobular veins NOT_TRANSLATED +HP:0033974 Interlobular vein intima/media onion skinning NOT_TRANSLATED +HP:0033974 Multilamellation (onion skinning) within interlobular vein intima/media NOT_TRANSLATED +HP:0033976 Palmar fingernail NOT_TRANSLATED +HP:0033976 Ventral fingernail NOT_TRANSLATED +HP:0033977 Absent talus NOT_TRANSLATED +HP:0033977 Talus aplasia NOT_TRANSLATED +HP:0033979 Membranous tracheobronchomalacia NOT_TRANSLATED +HP:0033981 Tortuous vertebral arteries NOT_TRANSLATED +HP:0033983 Decreased plasma apolipoprotein C-II NOT_TRANSLATED +HP:0033984 Increased urinary 8-oxo-7,8-dihydroguanosine NOT_TRANSLATED +HP:0033984 Increased urinary 8-oxo-Gsn level NOT_TRANSLATED +HP:0033984 Increased urine 8-oxo-7,8-dihydroguanosine NOT_TRANSLATED +HP:0033984 Increased urine 8-oxo-GMP NOT_TRANSLATED +HP:0033985 Long femoral neck NOT_TRANSLATED +HP:0033986 Tortuous lymphatics NOT_TRANSLATED +HP:0033990 Cartilaginous malacia NOT_TRANSLATED +HP:0033999 Bronchial bleeding NOT_TRANSLATED +HP:0034000 Tracheal bleeding NOT_TRANSLATED +HP:0034001 CFH autoantibodies NOT_TRANSLATED +HP:0034002 Anti-PLA2R antibody positivity NOT_TRANSLATED +HP:0034003 Medial broadening of eyebrows NOT_TRANSLATED +HP:0034011 Non-progressive sperm motility NOT_TRANSLATED +HP:0034016 Anti-human leukocyte antigen antibody positivity NOT_TRANSLATED +HP:0034030 Bluish lips NOT_TRANSLATED +HP:0034030 Cyanotic lips NOT_TRANSLATED +HP:0034030 Labial cyanosis NOT_TRANSLATED +HP:0034031 Bluish face NOT_TRANSLATED +HP:0034031 Cyanotic face NOT_TRANSLATED +HP:0034035 Fluid from the pharynx NOT_TRANSLATED +HP:0034035 Pharyngeal fluid NOT_TRANSLATED +HP:0034036 COVID toe NOT_TRANSLATED +HP:0034036 Chilblain-like toe lesions NOT_TRANSLATED +HP:0034036 Chilblain-like toes NOT_TRANSLATED +HP:0034037 COVID finger NOT_TRANSLATED +HP:0034037 COVID fingers NOT_TRANSLATED +HP:0034039 Doublet premature ventricular contractions NOT_TRANSLATED +HP:0034044 Trident sign NOT_TRANSLATED +HP:0034045 Angular muscle fibers NOT_TRANSLATED +HP:0034048 Decreased circulating chenodiol concentration NOT_TRANSLATED +HP:0034049 Elevated urinary PGE2 level NOT_TRANSLATED +HP:0034055 Anti-P450scc NOT_TRANSLATED +HP:0034058 Structural fetal anomaly NOT_TRANSLATED +HP:0034059 Functional fetal anomaly NOT_TRANSLATED +HP:0034061 Anti-P450C17 NOT_TRANSLATED +HP:0034062 IAA positivity NOT_TRANSLATED +HP:0034062 Insulin autoantibodies NOT_TRANSLATED +HP:0034063 Anti-IA2 antibody positivity NOT_TRANSLATED +HP:0034063 Anti-IA2A NOT_TRANSLATED +HP:0034063 ICA512 NOT_TRANSLATED +HP:0034064 Anti-SP1 antibody positivity NOT_TRANSLATED +HP:0034065 Anti ZnT8 autoantibodies NOT_TRANSLATED +HP:0034066 Anti-CA6 antibody positivity NOT_TRANSLATED +HP:0034067 Clumping of the keratin tonofilaments NOT_TRANSLATED +HP:0034068 Anti-PBP antibody positivity NOT_TRANSLATED +HP:0034069 Anti-PSP antibody positivity NOT_TRANSLATED +HP:0034070 AEA NOT_TRANSLATED +HP:0034071 Anti-P450c21 NOT_TRANSLATED +HP:0034077 Anti-C1q antibody positivity NOT_TRANSLATED +HP:0034078 Anti-CENP-A antibody positivity NOT_TRANSLATED +HP:0034079 Anti-CENP-B antibody positivity NOT_TRANSLATED +HP:0034080 Anti-fibrillarin antibody positivity NOT_TRANSLATED +HP:0034082 Anti-BICD2 antibody positivity NOT_TRANSLATED +HP:0034083 Anti-Nor90 antibody positivity NOT_TRANSLATED +HP:0034091 Anti-PDGFR antibody positivity NOT_TRANSLATED +HP:0034092 Anti-CCP antibody positivity NOT_TRANSLATED +HP:0034093 Anti-Ro52 antibody positivity NOT_TRANSLATED +HP:0034094 Anti-AT1R antibody positivity NOT_TRANSLATED +HP:0034095 Anti-ETAR antibody positivity NOT_TRANSLATED +HP:0034103 Anti-ganglioside-monosialic acid antibody positivity NOT_TRANSLATED +HP:0034105 Anti-TIF-1gamma antibody positivity NOT_TRANSLATED +HP:0034105 Anti-TIF1-gamma antibody positivity NOT_TRANSLATED +HP:0034106 Anti-Ago2 antibody positivity NOT_TRANSLATED +HP:0034106 Anti-Su antibody positivity NOT_TRANSLATED +HP:0034108 Anti-YB 1 antibody positivity NOT_TRANSLATED +HP:0034110 Anti-Ge-1 antibody positivity NOT_TRANSLATED +HP:0034114 Anti-HK-1 antibody positivity NOT_TRANSLATED +HP:0034115 Anti-KLHL-12 antibody positivity NOT_TRANSLATED +HP:0034117 Anti-ACE2 antibody positivity NOT_TRANSLATED +HP:0034135 Anti-NF155 antibody positivity NOT_TRANSLATED +HP:0034136 Anti-NF186 antibody positivity NOT_TRANSLATED +HP:0034137 Anti-CNTN1 antibody positivity NOT_TRANSLATED +HP:0034138 Anti-CASPR1 antibody positivity NOT_TRANSLATED +HP:0034139 Anti-SAE antibody positivity NOT_TRANSLATED +HP:0034139 Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity NOT_TRANSLATED +HP:0034141 Anti-SAE 2 antibody positivity NOT_TRANSLATED +HP:0034142 Anti-MJ/NXP-2 antibody positivity NOT_TRANSLATED +HP:0034142 Anti-NXP-2 antibody positivity NOT_TRANSLATED +HP:0034143 Anti-PL-7 antibody positivity NOT_TRANSLATED +HP:0034144 Anti-Ro60 antibody positivity NOT_TRANSLATED +HP:0034145 Anti-PL-12 antibody positivity NOT_TRANSLATED +HP:0034146 Anti-EJ antibody positivity NOT_TRANSLATED +HP:0034148 Anti-OJ antibody positivity NOT_TRANSLATED +HP:0034149 Anti-Zo alpha antibody positivity NOT_TRANSLATED +HP:0034149 Anti-Zo antibody positivity NOT_TRANSLATED +HP:0034149 Phenylanyl-t-RNA synthetase alpha antibody positivity NOT_TRANSLATED +HP:0034150 Anti-Ha antibody positivity NOT_TRANSLATED +HP:0034151 Anti-KS antibody positivity NOT_TRANSLATED +HP:0034152 Anti-JO1 antibody positivity NOT_TRANSLATED +HP:0034152 Anti-Jo-1 antibody positivity NOT_TRANSLATED +HP:0034153 Anti-cN1A antibody positivity NOT_TRANSLATED +HP:0034156 Anti-beta2GPI IgG antibody positivity NOT_TRANSLATED +HP:0034157 Anti-beta2GPI IgM antibody positivity NOT_TRANSLATED +HP:0034158 Anti-PTPA antibody positivity NOT_TRANSLATED +HP:0034184 Increased circulating IGFALS contration NOT_TRANSLATED +HP:0034189 Anti-TSH receptor antibody positivity NOT_TRANSLATED +HP:0034189 TRAbs NOT_TRANSLATED +HP:0034193 Blistering with cleavage within basal keratinocytes NOT_TRANSLATED +HP:0034193 Cleavage within the basal keratinocyte layer NOT_TRANSLATED +HP:0034194 Blistering with suprabasal clefting NOT_TRANSLATED +HP:0034196 Agenesis of the ductus venosus NOT_TRANSLATED +HP:0034199 Early fetal onset NOT_TRANSLATED +HP:0034206 Abnormal fetal CNS morphology NOT_TRANSLATED +HP:0034209 Grade I fetal intracranial hemorrhage NOT_TRANSLATED +HP:0034214 Grade II fetal intracranial hemorrhage NOT_TRANSLATED +HP:0034218 Grade III fetal intracranial hemorrhage NOT_TRANSLATED +HP:0034219 Grade IV fetal intracranial hemorrhage NOT_TRANSLATED +HP:0034223 Elevated umbilical artery Dopplers NOT_TRANSLATED +HP:0034223 Increased umbilical artery pulsatility index NOT_TRANSLATED +HP:0034230 Type A cross fused renal ectopia NOT_TRANSLATED +HP:0034231 S-shaped kidney NOT_TRANSLATED +HP:0034231 Type B cross fused renal ectopia NOT_TRANSLATED +HP:0034232 Type C cross fused renal ectopia NOT_TRANSLATED +HP:0034233 Type D cross fused renal ectopia NOT_TRANSLATED +HP:0034234 Tandem kidney NOT_TRANSLATED +HP:0034234 Type E cross fused renal ectopia NOT_TRANSLATED +HP:0034236 AOP NOT_TRANSLATED +HP:0034241 Death before birth NOT_TRANSLATED +HP:0034241 Intrauterine death NOT_TRANSLATED +HP:0034254 Midbrain panda sign NOT_TRANSLATED +HP:0034255 Colovesicular fistula NOT_TRANSLATED +HP:0034255 Vesicocolic fistula NOT_TRANSLATED +HP:0034258 Aplasia/Hypoplasia of the mesencephalon NOT_TRANSLATED +HP:0034259 Hypoplasia of the mesencephalon NOT_TRANSLATED +HP:0034259 Hypoplastic mesencephalon NOT_TRANSLATED +HP:0034264 Bleeding after sex NOT_TRANSLATED +HP:0034265 Breast pain NOT_TRANSLATED +HP:0034265 Painful breast NOT_TRANSLATED +HP:0034267 Pain in the pelvis NOT_TRANSLATED +HP:0034270 Jagged incisors NOT_TRANSLATED +HP:0034273 Premature facial sagging NOT_TRANSLATED +HP:0034276 Increased serum thymidine NOT_TRANSLATED +HP:0034278 Bone marrow: multinucleated erythroblasts NOT_TRANSLATED +HP:0034278 Multinucleate erythroblast NOT_TRANSLATED +HP:0034279 2,8-dihydroxyadenine urinary crystals NOT_TRANSLATED +HP:0034280 Codocytes NOT_TRANSLATED +HP:0034281 Cone-shaped epiphyses of phalanges NOT_TRANSLATED +HP:0034281 Cone-shaped phalangeal epiphyses NOT_TRANSLATED +HP:0034288 Elevated circulating reverse triiodothyronine concentration NOT_TRANSLATED +HP:0034288 Elevated rT3 NOT_TRANSLATED +HP:0034295 White matter loss NOT_TRANSLATED +HP:0034298 Elevated circulating cerotic acid concentration NOT_TRANSLATED +HP:0034303 Notched T-wave NOT_TRANSLATED +HP:0034305 2:1 AV block NOT_TRANSLATED +HP:0034309 Multi-tailed spermatozoa NOT_TRANSLATED +HP:0034310 Postvaccination yellow fever NOT_TRANSLATED +HP:0034311 Optic chiasm hypoplasia NOT_TRANSLATED +HP:0034312 Sleep hypoxemia NOT_TRANSLATED +HP:0034312 Sleep-related hypoxemia NOT_TRANSLATED +HP:0034320 Intracytoplasmic myofiber reducing inclusion bodies NOT_TRANSLATED +HP:0034324 Dilatated brachiocephalic artery NOT_TRANSLATED +HP:0034324 Innominate artery aneurysm NOT_TRANSLATED +HP:0034327 Punctiform multicolored opacities in the posterior corneal stroma NOT_TRANSLATED +HP:0034328 Fibro-obliterative bile-duct scarring NOT_TRANSLATED +HP:0034328 Fibro-obliterative loss of bile ducts NOT_TRANSLATED +HP:0034329 Bilateral hemimegalencephaly NOT_TRANSLATED +HP:0034333 Hypoxanthine high in blood NOT_TRANSLATED +HP:0034336 Spleen infarct NOT_TRANSLATED +HP:0034336 Spleen infarction NOT_TRANSLATED +HP:0034336 Splenic infarct NOT_TRANSLATED +HP:0034339 Pseudoautosomal region inheritance NOT_TRANSLATED +HP:0034340 monoallelic_PAR NOT_TRANSLATED +HP:0034341 biallelic_PAR NOT_TRANSLATED +HP:0034347 Palpable great auricular nerve NOT_TRANSLATED +HP:0034348 Infundibular pulmonary stenosis NOT_TRANSLATED +HP:0034348 Infundibular pulmonic stenosis NOT_TRANSLATED +HP:0034348 Subvalvar pulmonary stenosis NOT_TRANSLATED +HP:0034348 Subvalvar pulmonic stenosis NOT_TRANSLATED +HP:0034348 Subvalvular pulmonary stenosis NOT_TRANSLATED +HP:0034348 Subvalvular pulmonic stenosis NOT_TRANSLATED +HP:0034349 Supravalvar pulmonnic stenosis NOT_TRANSLATED +HP:0034349 Supravalvular pulmonary stenosis NOT_TRANSLATED +HP:0034349 Supravalvular pulmonic stenosis NOT_TRANSLATED +HP:0034351 Peripheral nerve hyperexcitability NOT_TRANSLATED +HP:0034356 Increased low molecular weight protein excretion NOT_TRANSLATED +HP:0034362 Decreased foveal light reflex NOT_TRANSLATED +HP:0034362 Muted foveal light reflex NOT_TRANSLATED +HP:0034362 Poor foveal light reflex NOT_TRANSLATED +HP:0034363 Surfer's eye NOT_TRANSLATED +HP:0034363 Wing-shaped conjunctiva NOT_TRANSLATED +HP:0034365 Elevated circulating piperideine-6-carboxylic acid concentration NOT_TRANSLATED +HP:0034372 Internal tibial rotation NOT_TRANSLATED +HP:0034373 External tibial rotation NOT_TRANSLATED +HP:0034374 Trident acetabula NOT_TRANSLATED +HP:0034381 CNS axonal spheroid NOT_TRANSLATED +HP:0034388 Hilar lymphadenopathy NOT_TRANSLATED +HP:0034389 Pulmonary vein dilatation NOT_TRANSLATED +HP:0034390 Glycine low in CSF NOT_TRANSLATED +HP:0034392 Contracture NOT_TRANSLATED +HP:0034394 Supination contracture of the forearm NOT_TRANSLATED +HP:0034395 Pronation contracture of the forearm NOT_TRANSLATED +HP:0034405 Thick tectum NOT_TRANSLATED +HP:0034406 Angiotensin-converting enzyme (ACE) high in CSF NOT_TRANSLATED +HP:0034407 3-ketoacyl-CoA thiolase (THIO) deficiency NOT_TRANSLATED +HP:0034414 oral frenulum, thick NOT_TRANSLATED +HP:0034415 Avulsed tooth NOT_TRANSLATED +HP:0034415 Teeth: avulsion NOT_TRANSLATED +HP:0034416 Laceration of oral frenulum NOT_TRANSLATED +HP:0034416 Oral frenulum, torn NOT_TRANSLATED +HP:0034417 Intraoral lacerations NOT_TRANSLATED +HP:0034418 Oral mucosa erythema NOT_TRANSLATED +HP:0034421 Cardiac click sound on auscultation NOT_TRANSLATED +HP:0034425 Hair sulfur content reduced NOT_TRANSLATED +HP:0034427 Mucopurulent discharge from the eye NOT_TRANSLATED +HP:0034429 Bacteria in CSF NOT_TRANSLATED +HP:0034432 Intertriginous distribution of skin lesions NOT_TRANSLATED +HP:0034433 Distributed along Langer's lines NOT_TRANSLATED +HP:0034433 Lesions follow lines of cleavage NOT_TRANSLATED +HP:0034436 Gaze aversion NOT_TRANSLATED +HP:0034439 Instep localization to skin abnormality NOT_TRANSLATED +HP:0034440 Ultraviolet exposure improves condition NOT_TRANSLATED +HP:0034441 Aspartic acid low in blood NOT_TRANSLATED +HP:0034443 Erythropoietin low in blood NOT_TRANSLATED +HP:0034445 Gamma-glutamyl transferase low in blood NOT_TRANSLATED +HP:0034446 Histamine high in blood NOT_TRANSLATED +HP:0034447 IL-18 high in blood NOT_TRANSLATED +HP:0034448 Abnormal phytanic acid to pristanic acid ratio NOT_TRANSLATED +HP:0034448 Abnormal phytanic acid/pristanic acid ratio NOT_TRANSLATED +HP:0034449 Phytanic acid to pristanic acid ratio high NOT_TRANSLATED +HP:0034450 Phytanic acid to pristanic acid ratio low NOT_TRANSLATED +HP:0034451 Vesicorectal fistula NOT_TRANSLATED +HP:0034453 Umbilicus hypoplastic NOT_TRANSLATED +HP:0034455 Taurine high in CSF NOT_TRANSLATED +HP:0034456 Glutathione high in blood NOT_TRANSLATED +HP:0034457 Hawkinsin high in urine NOT_TRANSLATED +HP:0034458 Phenylpyruvic acid high in urine NOT_TRANSLATED +HP:0034459 Lumbar puncture relieves symptoms NOT_TRANSLATED +HP:0034461 Kynurenine high in urine NOT_TRANSLATED +HP:0034462 L-alloisoleucine high in CSF NOT_TRANSLATED +HP:0034463 Hydroxylysine present in blood NOT_TRANSLATED +HP:0034464 Homocitrulline present in urine NOT_TRANSLATED +HP:0034465 2-hydroxyadipic acid high in urine NOT_TRANSLATED +HP:0034466 Homoarginine high in urine NOT_TRANSLATED +HP:0034468 Gastric xanthomas NOT_TRANSLATED +HP:0034468 Gastric xanthomata NOT_TRANSLATED +HP:0034469 Elastase low in stool NOT_TRANSLATED +HP:0034470 Chloride high in stool NOT_TRANSLATED +HP:0034470 Elevations in fecal chloride concentration NOT_TRANSLATED +HP:0034471 Coproporphyrin isomer III/I ratio high in stool NOT_TRANSLATED +HP:0034471 Increased fecal CIII:CI ratio NOT_TRANSLATED +HP:0034472 Harderoporphyrin high in stool NOT_TRANSLATED +HP:0034473 Heptacarboxylporphyrin high in stool NOT_TRANSLATED +HP:0034474 Pentacarboxylporphyrin high in stool NOT_TRANSLATED +HP:0034475 Isocoproporphyrin high in stool NOT_TRANSLATED +HP:0034476 Clostridium botulinum toxin in stool NOT_TRANSLATED +HP:0034477 Peri-hepatic adhesions NOT_TRANSLATED +HP:0034478 Vas deferens dilated NOT_TRANSLATED +HP:0034479 Epididymis enlarged NOT_TRANSLATED +HP:0034480 Absent epididymides NOT_TRANSLATED +HP:0034480 Epididymides absent NOT_TRANSLATED +HP:0034483 Bone marrow: vacuolated lymphocytes NOT_TRANSLATED +HP:0034485 Glioependymal cyst NOT_TRANSLATED +HP:0034485 Neuroglial cyst NOT_TRANSLATED +HP:0034486 IL-7 low in blood NOT_TRANSLATED +HP:0034487 IL-12 high in blood NOT_TRANSLATED +HP:0034488 IL-13 high in blood NOT_TRANSLATED +HP:0034489 IL-2 high in blood NOT_TRANSLATED +HP:0034490 IL-4 high in blood NOT_TRANSLATED +HP:0034491 IL-5 high in blood NOT_TRANSLATED +HP:0034494 Paranasal sinuses opacification NOT_TRANSLATED +HP:0034494 Paranasal sinuses opacified NOT_TRANSLATED +HP:0034498 Focal nodular hyperplasia NOT_TRANSLATED +HP:0034499 Bone marrow: iron stores increased NOT_TRANSLATED +HP:0034501 Mediastinal widening NOT_TRANSLATED +HP:0034506 Gallbladder enlarged NOT_TRANSLATED +HP:0034508 Muscle biopsy: fingerprint bodies at periphery of muscle fibers NOT_TRANSLATED +HP:0034511 Muscle biopsy: aconitase deficiency NOT_TRANSLATED +HP:0034513 Interferon-alpha high in blood NOT_TRANSLATED +HP:0034516 Ketogenic diet improves symptoms NOT_TRANSLATED +HP:0034518 Gum fragility NOT_TRANSLATED +HP:0040007 Lack of skin coloring on chest NOT_TRANSLATED +HP:0040007 Lack of skin colouring on chest NOT_TRANSLATED +HP:0040008 Absence of facial bones NOT_TRANSLATED +HP:0040008 Agenesis of facial bones NOT_TRANSLATED +HP:0040008 Aplasia of facial skeleton NOT_TRANSLATED +HP:0040008 Failure of development of facial bones NOT_TRANSLATED +HP:0040008 Failure of development of facial skeleton NOT_TRANSLATED +HP:0040008 Missing facial bones NOT_TRANSLATED +HP:0040012 High frequency of chromosome breaks in lymphocytes NOT_TRANSLATED +HP:0040012 Increased chromosomal breakage NOT_TRANSLATED +HP:0040012 Increased chromosomal breakage rate NOT_TRANSLATED +HP:0040012 Multiple chromosomal breaks NOT_TRANSLATED +HP:0040012 Tendency to chromosomal breakage NOT_TRANSLATED +HP:0040016 Prominent tailbone NOT_TRANSLATED +HP:0040017 Protruding tailbone NOT_TRANSLATED +HP:0040018 Curvature of big toe NOT_TRANSLATED +HP:0040019 Curvature of finger NOT_TRANSLATED +HP:0040022 Curvature of index finger NOT_TRANSLATED +HP:0040022 Second finger clinodactyly NOT_TRANSLATED +HP:0040023 Curvature of thumb NOT_TRANSLATED +HP:0040024 Curvature of middle finger NOT_TRANSLATED +HP:0040025 Curvature of ring finger NOT_TRANSLATED +HP:0040032 Decreased size of upper eyelid NOT_TRANSLATED +HP:0040032 Hypotrophic upper eyelid NOT_TRANSLATED +HP:0040032 Short upper eyelid NOT_TRANSLATED +HP:0040032 Small upper eyelid NOT_TRANSLATED +HP:0040032 Underdevelopment of upper eyelid NOT_TRANSLATED +HP:0040033 Absent/small 5th long bone of foot NOT_TRANSLATED +HP:0040033 Absent/underdeveloped 5th long bone of foot NOT_TRANSLATED +HP:0040034 Abnormality of the 2nd long bone of foot NOT_TRANSLATED +HP:0040035 Abnormality of the 4th long bone of foot NOT_TRANSLATED +HP:0040036 Overgrowth and curving of fingernail NOT_TRANSLATED +HP:0040039 Detachment of fingernails NOT_TRANSLATED +HP:0040039 Onycholysis of fingernail NOT_TRANSLATED +HP:0040040 Detachment of toenails NOT_TRANSLATED +HP:0040040 Onycholysis of toenails NOT_TRANSLATED +HP:0040042 Absent eccrine sweat glands NOT_TRANSLATED +HP:0040043 Underdeveloped major sweat glands NOT_TRANSLATED +HP:0040044 Underdeveloped diaphragm NOT_TRANSLATED +HP:0040045 Abnormality of the hemidiaphragms NOT_TRANSLATED +HP:0040046 Abnormality of the left hemidiaphragm NOT_TRANSLATED +HP:0040047 Abnormality of the right hemidiaphragm NOT_TRANSLATED +HP:0040049 Macular oedema NOT_TRANSLATED +HP:0040050 Hypotrichosis of upper eyelashes NOT_TRANSLATED +HP:0040050 Partial absence of upper eyelashes NOT_TRANSLATED +HP:0040053 Ciliary trichomegaly of lower eyelashes NOT_TRANSLATED +HP:0040053 Increased length of lower eyelashes NOT_TRANSLATED +HP:0040054 Decreased length of upper eyelashes NOT_TRANSLATED +HP:0040055 Decreased length of lower eyelashes NOT_TRANSLATED +HP:0040056 Agenesis of upper eyelashes NOT_TRANSLATED +HP:0040056 Aplasia of upper eyelashes NOT_TRANSLATED +HP:0040056 Atrichia of upper eyelashes NOT_TRANSLATED +HP:0040056 Failure of development of upper eyelashes NOT_TRANSLATED +HP:0040057 Abnormality of nose hair NOT_TRANSLATED +HP:0040063 Decreased fat tissue NOT_TRANSLATED +HP:0040064 Abnormal limbs NOT_TRANSLATED +HP:0040064 Dysmelia NOT_TRANSLATED +HP:0040064 Limb anomaly NOT_TRANSLATED +HP:0040069 Abnormal morphology of bones of the lower limbs NOT_TRANSLATED +HP:0040069 Abnormal shape of bones of the lower limbs NOT_TRANSLATED +HP:0040069 Abnormality of lower limb bone NOT_TRANSLATED +HP:0040070 Abnormal morphology of bones of the upper limbs NOT_TRANSLATED +HP:0040070 Abnormal shape of bones of the upper limbs NOT_TRANSLATED +HP:0040070 Abnormality of upper limb bone NOT_TRANSLATED +HP:0040072 Abnormality of forearm bone NOT_TRANSLATED +HP:0040079 Irregular teeth NOT_TRANSLATED +HP:0040081 Abnormal circulating CK concentration NOT_TRANSLATED +HP:0040081 Abnormal circulating CPK concentration NOT_TRANSLATED +HP:0040081 Abnormal circulation phospho-CK concentration NOT_TRANSLATED +HP:0040081 Abnormal levels of creatine kinase in blood NOT_TRANSLATED +HP:0040082 Happy demeanour NOT_TRANSLATED +HP:0040084 Abnormal plasma renin NOT_TRANSLATED +HP:0040085 Abnormal plasma aldosterone NOT_TRANSLATED +HP:0040087 Abnormal serum folate NOT_TRANSLATED +HP:0040087 Abnormality of folate in blood NOT_TRANSLATED +HP:0040088 Abnormal lymphocyte counts NOT_TRANSLATED +HP:0040088 Abnormal number of lymphocytes NOT_TRANSLATED +HP:0040088 Abnormal numbers of lymphocytes NOT_TRANSLATED +HP:0040088 Abnormality of lymphocyte number NOT_TRANSLATED +HP:0040089 Abnormal NK cell count NOT_TRANSLATED +HP:0040089 Abnormal number of natural killer cells NOT_TRANSLATED +HP:0040089 Abnormality of natural killer cell count NOT_TRANSLATED +HP:0040090 Abnormality of the eardrum NOT_TRANSLATED +HP:0040093 Uneven ears NOT_TRANSLATED +HP:0040095 Outer ear tumor NOT_TRANSLATED +HP:0040095 Outer ear tumour NOT_TRANSLATED +HP:0040096 Inner ear tumor NOT_TRANSLATED +HP:0040096 Inner ear tumour NOT_TRANSLATED +HP:0040097 Adenoma of the ceruminous gland NOT_TRANSLATED +HP:0040097 Ceruminoma NOT_TRANSLATED +HP:0040097 Ceruminous adenoma NOT_TRANSLATED +HP:0040100 Abnormality of the oval window NOT_TRANSLATED +HP:0040106 Morphological abnormality of the horizontal semicircular canal NOT_TRANSLATED +HP:0040113 Presbycusis NOT_TRANSLATED +HP:0040115 Abnormality of the Eustachian tube NOT_TRANSLATED +HP:0040116 Absent eustachian tube NOT_TRANSLATED +HP:0040121 Abnormal auditory reflex NOT_TRANSLATED +HP:0040121 Abnormal middle-ear-muscles (MEM) reflex NOT_TRANSLATED +HP:0040121 Abnormality of stapedial reflex NOT_TRANSLATED +HP:0040126 Abnormal serum cobalamin level NOT_TRANSLATED +HP:0040129 Abnormal nerve conduction NOT_TRANSLATED +HP:0040129 Abnormal nerve conduction velocities NOT_TRANSLATED +HP:0040129 Nerve conduction abnormalities NOT_TRANSLATED +HP:0040133 Abnormal plasma ferritin NOT_TRANSLATED +HP:0040133 Abnormal serum ferritin NOT_TRANSLATED +HP:0040134 Abnormal liver iron concentration NOT_TRANSLATED +HP:0040134 Abnormal liver iron level NOT_TRANSLATED +HP:0040137 Comedogenic acne NOT_TRANSLATED +HP:0040138 Histiocytosis, mucinous NOT_TRANSLATED +HP:0040142 5-oxoprolinase deficiency NOT_TRANSLATED +HP:0040149 Afro-textured scalp hair NOT_TRANSLATED +HP:0040149 Kinky scalp hair texture NOT_TRANSLATED +HP:0040149 Nappy scalp hair texture NOT_TRANSLATED +HP:0040149 Wooly scalp hair NOT_TRANSLATED +HP:0040154 Hidradenitis suppurativa NOT_TRANSLATED +HP:0040154 Pyoderma fistulans significa NOT_TRANSLATED +HP:0040154 Smoker's boils NOT_TRANSLATED +HP:0040154 Verneuil's disease NOT_TRANSLATED +HP:0040159 Abnormality of spacing of front teeth NOT_TRANSLATED +HP:0040159 Abnormality of spacing of incisors NOT_TRANSLATED +HP:0040160 Generalised osteoporosis NOT_TRANSLATED +HP:0040160 Generalised osteoporosis with pathologic fractures NOT_TRANSLATED +HP:0040160 Generalized osteoporosis with pathologic fractures NOT_TRANSLATED +HP:0040161 Localised osteoporosis NOT_TRANSLATED +HP:0040163 Abnormal shape of pelvis bone NOT_TRANSLATED +HP:0040164 Fatty tumors on the eyelids NOT_TRANSLATED +HP:0040164 Fatty tumours on the eyelids NOT_TRANSLATED +HP:0040165 Periostalgia NOT_TRANSLATED +HP:0040167 Facial verruca NOT_TRANSLATED +HP:0040167 Facial wart NOT_TRANSLATED +HP:0040171 Decreased serum testosterone level NOT_TRANSLATED +HP:0040171 Decreased serum testosterone levels NOT_TRANSLATED +HP:0040171 Decreased testosterone NOT_TRANSLATED +HP:0040171 Low serum testosterone level NOT_TRANSLATED +HP:0040171 Low serum testosterone levels NOT_TRANSLATED +HP:0040173 Abnormality of lingual muscle NOT_TRANSLATED +HP:0040174 Abnormality of extrinsic lingual muscle NOT_TRANSLATED +HP:0040176 Abnormal level of phospholipids NOT_TRANSLATED +HP:0040177 Abnormal level of PAF NOT_TRANSLATED +HP:0040178 Increased level of PAF NOT_TRANSLATED +HP:0040179 Decreased level of PAF NOT_TRANSLATED +HP:0040181 Chapped lips NOT_TRANSLATED +HP:0040181 Cheilitis simplex NOT_TRANSLATED +HP:0040181 Common cheilitis NOT_TRANSLATED +HP:0040181 Dry lips NOT_TRANSLATED +HP:0040181 Perioral dermatitis NOT_TRANSLATED +HP:0040183 Stool holding NOT_TRANSLATED +HP:0040183 Stool soiling NOT_TRANSLATED +HP:0040184 Oral haemorrhage NOT_TRANSLATED +HP:0040184 Oral hemorrhage NOT_TRANSLATED +HP:0040185 Macrothrombozytopenia NOT_TRANSLATED +HP:0040189 Desquamation NOT_TRANSLATED +HP:0040189 Scaly skin NOT_TRANSLATED +HP:0040189 flaking skin NOT_TRANSLATED +HP:0040189 peeling skin NOT_TRANSLATED +HP:0040190 White scaly skin NOT_TRANSLATED +HP:0040191 Atrophy of the rectus femoris muscles NOT_TRANSLATED +HP:0040192 amine precursor uptake and decarboxylation tumours NOT_TRANSLATED +HP:0040197 Cerebral softening NOT_TRANSLATED +HP:0040198 Nonmedullary thyroid carcinoma NOT_TRANSLATED +HP:0040198 Thyroid cancer, nonmedullary NOT_TRANSLATED +HP:0040200 Negative chorea NOT_TRANSLATED +HP:0040202 Abnormal consumption behaviour NOT_TRANSLATED +HP:0040203 Abnormal CSF neopterin level NOT_TRANSLATED +HP:0040207 Abnormal CSF biopterin level NOT_TRANSLATED +HP:0040207 Abnormal cerebrospinal fluid biopterin level NOT_TRANSLATED +HP:0040209 Decreased cerebrospinal fluid biopterin level NOT_TRANSLATED +HP:0040212 Rictus grin NOT_TRANSLATED +HP:0040213 Shallow breathing NOT_TRANSLATED +HP:0040214 Abnormal insulin level NOT_TRANSLATED +HP:0040217 Elevated HbA1c NOT_TRANSLATED +HP:0040217 Elevated glycated haemoglobin NOT_TRANSLATED +HP:0040217 Elevated glycated hemoglobin NOT_TRANSLATED +HP:0040217 Elevated glycosylated haemoglobin NOT_TRANSLATED +HP:0040217 Elevated glycosylated hemoglobin NOT_TRANSLATED +HP:0040217 Elevated haemoglobin A1c NOT_TRANSLATED +HP:0040217 Increased HbA1c levels NOT_TRANSLATED +HP:0040218 Reduced NK cell number NOT_TRANSLATED +HP:0040218 Reduced natural killer cell number NOT_TRANSLATED +HP:0040219 Absent NK cells NOT_TRANSLATED +HP:0040223 Intrapulmonary haemorrhage NOT_TRANSLATED +HP:0040223 Intrapulmonary hemorrhage NOT_TRANSLATED +HP:0040223 Pulmonary haemorrhage NOT_TRANSLATED +HP:0040224 Abnormality of the fibrinolytic system NOT_TRANSLATED +HP:0040225 Decrease in HMW VWF multimers NOT_TRANSLATED +HP:0040226 Heparin co-factor II deficiency NOT_TRANSLATED +HP:0040228 Hypoplasminogenemia NOT_TRANSLATED +HP:0040229 BDCA-3 NOT_TRANSLATED +HP:0040230 Decreased level of tPA NOT_TRANSLATED +HP:0040233 Reduced factor XIII, subunit A NOT_TRANSLATED +HP:0040234 Reduced factor XIII, subunit B NOT_TRANSLATED +HP:0040235 Dohle-like leukocyte inclusion bodies NOT_TRANSLATED +HP:0040235 Inclusion bodies in leukocytes NOT_TRANSLATED +HP:0040237 von Willebrand Disease Type II Normandy NOT_TRANSLATED +HP:0040238 Neutrophil migratory defect NOT_TRANSLATED +HP:0040242 Muscle haemorrhage NOT_TRANSLATED +HP:0040251 Hand dimples NOT_TRANSLATED +HP:0040256 Adenoids small or absent NOT_TRANSLATED +HP:0040258 Underdeveloped nasopharyngeal adenoids NOT_TRANSLATED +HP:0040261 Adenoid hypertrophy NOT_TRANSLATED +HP:0040261 Adenoids large NOT_TRANSLATED +HP:0040263 Difficulty opening mouth NOT_TRANSLATED +HP:0040269 Obstruction of Eustachian tube NOT_TRANSLATED +HP:0040270 Decreased glucose tolerance NOT_TRANSLATED +HP:0040270 Glucose tolerance decreased NOT_TRANSLATED +HP:0040280 Obligate (100%) NOT_TRANSLATED +HP:0040281 Very frequent (99-80%) NOT_TRANSLATED +HP:0040282 Frequent (79-30%) NOT_TRANSLATED +HP:0040283 Occasional (29-5%) NOT_TRANSLATED +HP:0040284 Very rare (<4-1%) NOT_TRANSLATED +HP:0040284 Very rare (lt;4-1%) NOT_TRANSLATED +HP:0040285 Excluded (0%) NOT_TRANSLATED +HP:0040286 Abnormality of axial muscles NOT_TRANSLATED +HP:0040289 CyN NOT_TRANSLATED +HP:0040291 Steatosis of skeletal muscle NOT_TRANSLATED +HP:0040291 Steatosis of skeletal muscles NOT_TRANSLATED +HP:0040292 Hemiplegia (left) NOT_TRANSLATED +HP:0040293 Hemiplegia (right) NOT_TRANSLATED +HP:0040294 Duplication of tongue NOT_TRANSLATED +HP:0040294 Tongue duplicated NOT_TRANSLATED +HP:0040294 Tongue duplication NOT_TRANSLATED +HP:0040295 Double upper lip NOT_TRANSLATED +HP:0040296 Abnormal location of eyebrows NOT_TRANSLATED +HP:0040296 Abnormally placed eyebrows NOT_TRANSLATED +HP:0040298 Hyperplastic endometrium NOT_TRANSLATED +HP:0040299 Low fatty acids level NOT_TRANSLATED +HP:0040300 Abnormal circulating free fatty acid level NOT_TRANSLATED +HP:0040302 Pseudohypertriglyceridemia NOT_TRANSLATED +HP:0040303 Low serum iron NOT_TRANSLATED +HP:0040304 Duplicate sella turcica NOT_TRANSLATED +HP:0040304 Duplicated sella turcica NOT_TRANSLATED +HP:0040309 Large jaw NOT_TRANSLATED +HP:0040312 Arthritis of temporomandibular joint NOT_TRANSLATED +HP:0040314 Blind-ended vagina NOT_TRANSLATED +HP:0040315 Tongue oedema NOT_TRANSLATED +HP:0040320 red brown urine NOT_TRANSLATED +HP:0040323 Erythema of eyelid NOT_TRANSLATED +HP:0040323 Eyelid erythema NOT_TRANSLATED +HP:0040324 Heliotrope erythema NOT_TRANSLATED +HP:0040326 Hypoplasia of olfactory bulb NOT_TRANSLATED +HP:0040326 Hypoplastic olfactory bulb NOT_TRANSLATED +HP:0041047 Obstruction of bladder outlet NOT_TRANSLATED +HP:0041049 Amylose-amylopectin intolerance NOT_TRANSLATED +HP:0041050 Renal tubule cyst NOT_TRANSLATED +HP:0041051 Absent sense of taste NOT_TRANSLATED +HP:0041051 Impaired taste sensation NOT_TRANSLATED +HP:0041051 Lost taste NOT_TRANSLATED +HP:0041055 Broken humerus NOT_TRANSLATED +HP:0041055 Fracture of the humerus NOT_TRANSLATED +HP:0041055 Humeral fracture NOT_TRANSLATED +HP:0041055 Humerus fracture NOT_TRANSLATED +HP:0041055 bone humerus NOT_TRANSLATED +HP:0041057 Transient decreased IgG4 in blood NOT_TRANSLATED +HP:0041058 Chronic decreased IgG4 in blood NOT_TRANSLATED +HP:0041059 Chronic (near) absent IgG4 in blood NOT_TRANSLATED +HP:0041060 Chronic partially decreased IgG4 in blood NOT_TRANSLATED +HP:0041061 bone calcaneus NOT_TRANSLATED +HP:0041062 Transient decreased IgG2 in blood NOT_TRANSLATED +HP:0041063 Chronic decreased IgG2 in blood NOT_TRANSLATED +HP:0041064 bone knee NOT_TRANSLATED +HP:0041065 Chronic (near) absent IgG2 in blood NOT_TRANSLATED +HP:0041066 Chronic partially decreased IgG2 in blood NOT_TRANSLATED +HP:0041067 Transient decreased IgG1 in blood NOT_TRANSLATED +HP:0041068 Chronic decreased IgG1 in blood NOT_TRANSLATED +HP:0041069 Chronic (near) absent IgG1 in blood NOT_TRANSLATED +HP:0041070 Chronic partially decreased IgG1 in blood NOT_TRANSLATED +HP:0041071 Transient decreased IgG3 in blood NOT_TRANSLATED +HP:0041072 Chronic decreased IgG3 in blood NOT_TRANSLATED +HP:0041073 bone thoracic vertebra NOT_TRANSLATED +HP:0041074 Chronic (near) absent IgG3 in blood NOT_TRANSLATED +HP:0041075 Chronic partially decreased IgG3 in blood NOT_TRANSLATED +HP:0041079 Decreased adipose tissue percentage NOT_TRANSLATED +HP:0041081 Fracture of the lower leg NOT_TRANSLATED +HP:0041081 Lower extremity fracture NOT_TRANSLATED +HP:0041081 Lower limb fracture NOT_TRANSLATED +HP:0041083 bone phalanx NOT_TRANSLATED +HP:0041084 Compression fractured thoracic vertebra NOT_TRANSLATED +HP:0041084 Wedge fractured thoracic vertebra NOT_TRANSLATED +HP:0041085 Compression fractured vertebra NOT_TRANSLATED +HP:0041085 Wedge fractured vertebra NOT_TRANSLATED +HP:0041086 Compression fractured cervical vertebra NOT_TRANSLATED +HP:0041086 Wedge fractured cervical vertebra NOT_TRANSLATED +HP:0041087 Compression fractured lumbar vertebra NOT_TRANSLATED +HP:0041087 Wedge fractured lumbar vertebra NOT_TRANSLATED +HP:0041092 Highly sensitive NOT_TRANSLATED +HP:0041092 Hypersensitivity NOT_TRANSLATED +HP:0041092 Overly sensitive NOT_TRANSLATED +HP:0041093 Beau lines NOT_TRANSLATED +HP:0041093 Ladder nail NOT_TRANSLATED +HP:0041093 Ladder nail sign NOT_TRANSLATED +HP:0041094 CTRD NOT_TRANSLATED +HP:0041094 Complete tracheal ring deformity NOT_TRANSLATED +HP:0041094 Complete tracheal rings NOT_TRANSLATED +HP:0041114 bone metaphysis of femur NOT_TRANSLATED +HP:0041115 bone right clavicle NOT_TRANSLATED +HP:0041116 bone left clavicle NOT_TRANSLATED +HP:0041117 bone lower limb segment NOT_TRANSLATED +HP:0041118 bone upper limb segment NOT_TRANSLATED +HP:0041119 bone metacarpus skeleton NOT_TRANSLATED +HP:0041121 bone epiphysis of fifth metacarpal bone NOT_TRANSLATED +HP:0041143 Broken tibia NOT_TRANSLATED +HP:0041143 Fracture of the tibia NOT_TRANSLATED +HP:0041143 Tibial fracture NOT_TRANSLATED +HP:0041143 bone tibia NOT_TRANSLATED +HP:0041144 bone clavicle bone NOT_TRANSLATED +HP:0041145 bone acetabular part of hip bone NOT_TRANSLATED +HP:0041146 bone coccyx NOT_TRANSLATED +HP:0041147 bone epiphysis NOT_TRANSLATED +HP:0041149 bone navicular bone of pes NOT_TRANSLATED +HP:0041150 bone cuboid bone NOT_TRANSLATED +HP:0041152 bone sternoclavicular joint NOT_TRANSLATED +HP:0041153 bone ankle joint NOT_TRANSLATED +HP:0041154 bone elbow joint NOT_TRANSLATED +HP:0041155 bone mandible NOT_TRANSLATED +HP:0041156 bone orbit of skull NOT_TRANSLATED +HP:0041157 bone larynx NOT_TRANSLATED +HP:0041159 bone rib NOT_TRANSLATED +HP:0041162 Broken foot NOT_TRANSLATED +HP:0041162 Fractured pes NOT_TRANSLATED +HP:0041162 Metatarsal fracture NOT_TRANSLATED +HP:0041162 bone pes NOT_TRANSLATED +HP:0041163 bone manual digit NOT_TRANSLATED +HP:0041164 bone talus NOT_TRANSLATED +HP:0041165 bone maxilla NOT_TRANSLATED +HP:0041166 bone vertebra NOT_TRANSLATED +HP:0041167 bone cervical vertebra NOT_TRANSLATED +HP:0041168 bone lumbar vertebra NOT_TRANSLATED +HP:0041172 bone fused sacrum NOT_TRANSLATED +HP:0041173 bone metacarpophalangeal joint NOT_TRANSLATED +HP:0041174 bone distal phalanx of manus NOT_TRANSLATED +HP:0041175 bone middle phalanx of pes NOT_TRANSLATED +HP:0041176 bone distal phalanx of manual digit 2 NOT_TRANSLATED +HP:0041177 bone distal phalanx of manual digit 3 NOT_TRANSLATED +HP:0041178 bone distal phalanx of manual digit 4 NOT_TRANSLATED +HP:0041179 bone distal phalanx of manual digit 5 NOT_TRANSLATED +HP:0041180 bone distal phalanx of pedal digit 1 NOT_TRANSLATED +HP:0041181 bone distal phalanx of pedal digit 3 NOT_TRANSLATED +HP:0041182 bone middle phalanx of manual digit 2 NOT_TRANSLATED +HP:0041183 bone middle phalanx of manual digit 3 NOT_TRANSLATED +HP:0041184 bone middle phalanx of manual digit 4 NOT_TRANSLATED +HP:0041185 bone middle phalanx of manual digit 5 NOT_TRANSLATED +HP:0041186 bone middle phalanx of pedal digit 3 NOT_TRANSLATED +HP:0041187 bone proximal phalanx of pedal digit 1 NOT_TRANSLATED +HP:0041188 bone proximal phalanx of manual digit 1 NOT_TRANSLATED +HP:0041189 bone epiphysis of femur NOT_TRANSLATED +HP:0041190 bone epiphysis of second metacarpal bone NOT_TRANSLATED +HP:0041191 bone epiphysis of third metacarpal bone NOT_TRANSLATED +HP:0041192 bone epiphysis of fourth metacarpal bone NOT_TRANSLATED +HP:0041193 bone epiphysis of first metatarsal bone NOT_TRANSLATED +HP:0041194 bone epiphysis of second metatarsal bone NOT_TRANSLATED +HP:0041195 bone epiphysis of third metatarsal bone NOT_TRANSLATED +HP:0041196 bone distal epiphysis of radius NOT_TRANSLATED +HP:0041197 bone proximal epiphysis of first metacarpal bone NOT_TRANSLATED +HP:0041198 bone proximal epiphysis of middle phalanx of manual digit 3 NOT_TRANSLATED +HP:0041199 bone interphalangeal joint NOT_TRANSLATED +HP:0041200 bone sternal end of clavicle NOT_TRANSLATED +HP:0041209 bone epiphysis of middle phalanx of manus NOT_TRANSLATED +HP:0041210 bone lateral malleolus of fibula NOT_TRANSLATED +HP:0041211 bone proximal phalanx of digit 2 NOT_TRANSLATED +HP:0041212 bone proximal phalanx of digit 3 NOT_TRANSLATED +HP:0041213 bone proximal phalanx of digit 4 NOT_TRANSLATED +HP:0041214 bone proximal phalanx of digit 5 NOT_TRANSLATED +HP:0041215 bone fused metatarsal bones 2-4 NOT_TRANSLATED +HP:0041216 bone distal epiphysis of distal phalanx of manual digit 1 NOT_TRANSLATED +HP:0041217 bone shoulder joint NOT_TRANSLATED +HP:0041218 bone distal phalanx NOT_TRANSLATED +HP:0041219 bone elbow NOT_TRANSLATED +HP:0041220 bone facial bone NOT_TRANSLATED +HP:0041221 bone head of femur NOT_TRANSLATED +HP:0041222 Broken fibula NOT_TRANSLATED +HP:0041222 Fibula fracture NOT_TRANSLATED +HP:0041222 Fracture of the fibula NOT_TRANSLATED +HP:0041222 bone fibula NOT_TRANSLATED +HP:0041223 bone metatarsal bone of digit 5 NOT_TRANSLATED +HP:0041224 bone manual digit bone NOT_TRANSLATED +HP:0041225 bone metacarpal bone of digit 1 NOT_TRANSLATED +HP:0041226 bone distal tarsal bone NOT_TRANSLATED +HP:0041227 bone distal tarsal bone 2 NOT_TRANSLATED +HP:0041228 bone distal tarsal bone 3 NOT_TRANSLATED +HP:0041230 bone metatarsal bone of digit 4 NOT_TRANSLATED +HP:0041231 bone metatarsal bone of digit 1 NOT_TRANSLATED +HP:0041233 bone ilium NOT_TRANSLATED +HP:0041234 bone bone of jaw NOT_TRANSLATED +HP:0041235 bone hindlimb bone NOT_TRANSLATED +HP:0041236 bone middle phalanx of manus NOT_TRANSLATED +HP:0041237 bone patella NOT_TRANSLATED +HP:0041239 bone manual digit 1 phalanx NOT_TRANSLATED +HP:0041240 bone phalanx of pes NOT_TRANSLATED +HP:0041241 bone phalanx of manus NOT_TRANSLATED +HP:0041243 bone proximal phalanx of manus NOT_TRANSLATED +HP:0041244 bone scapula NOT_TRANSLATED +HP:0041245 bone shoulder bone NOT_TRANSLATED +HP:0041246 bone sternum NOT_TRANSLATED +HP:0041247 bone tarsal bone NOT_TRANSLATED +HP:0041248 Broken wrist NOT_TRANSLATED +HP:0041248 Carpal bone fracture NOT_TRANSLATED +HP:0041248 Fractured wrist NOT_TRANSLATED +HP:0041248 Wrist fracture NOT_TRANSLATED +HP:0041248 bone carpal bone NOT_TRANSLATED +HP:0041249 bone nose NOT_TRANSLATED +HP:0045005 Abnormality of neural tube closure NOT_TRANSLATED +HP:0045006 Absent lymphatic vessels NOT_TRANSLATED +HP:0045007 Abnormality of the substantia nigra NOT_TRANSLATED +HP:0045011 Decreased urine HCO3 concentration NOT_TRANSLATED +HP:0045018 Partial double eyebrow NOT_TRANSLATED +HP:0045025 Decreased size of palpebral fissure NOT_TRANSLATED +HP:0045025 Narrow eyelid opening NOT_TRANSLATED +HP:0045025 Narrow palpebral fissures NOT_TRANSLATED +HP:0045025 Small opening between the eyelids NOT_TRANSLATED +HP:0045025 Small palpebral fissures NOT_TRANSLATED +HP:0045026 Abnormality of the mediastinum NOT_TRANSLATED +HP:0045028 Lissencephaly type III NOT_TRANSLATED +HP:0045028 Type 3 lissencephaly NOT_TRANSLATED +HP:0045028 Type III lissencephaly NOT_TRANSLATED +HP:0045038 Primary gastric lymphoma NOT_TRANSLATED +HP:0045042 Decreased serum complement C4 level NOT_TRANSLATED +HP:0045043 C4a deficiency NOT_TRANSLATED +HP:0045043 Complement component 4A deficiency NOT_TRANSLATED +HP:0045044 C4b deficiency NOT_TRANSLATED +HP:0045044 Complement component 4B deficiency NOT_TRANSLATED +HP:0045045 Elevated plasma acylcarnitine levels NOT_TRANSLATED +HP:0045046 Acid-labile subunit deficiency NOT_TRANSLATED +HP:0045046 Decreased levels of acid labile subunit NOT_TRANSLATED +HP:0045046 Reduced insulin like growth factor binding protein acid labile subunit level NOT_TRANSLATED +HP:0045047 HbS haemoglobin NOT_TRANSLATED +HP:0045048 Increased HbA2 haemoglobin NOT_TRANSLATED +HP:0045048 Increased haemoglobin A2 NOT_TRANSLATED +HP:0045048 Increased hemoglobin A2 NOT_TRANSLATED +HP:0045049 Abnormal TLCO NOT_TRANSLATED +HP:0045049 Abnormal diffusing capacity NOT_TRANSLATED +HP:0045049 Abnormal transfer factor of the lung for carbon monoxide NOT_TRANSLATED +HP:0045050 Increased diffusing capacity NOT_TRANSLATED +HP:0045051 Decreased diffusing capacity NOT_TRANSLATED +HP:0045055 Tiger-tail banding NOT_TRANSLATED +HP:0045063 Increased prothrombin induced by vitamin K absence-II NOT_TRANSLATED +HP:0045074 Thin eyebrows NOT_TRANSLATED +HP:0045075 Hypotrichosis of eyebrow NOT_TRANSLATED +HP:0045075 Sparse eyebrows NOT_TRANSLATED +HP:0045079 Irregular distal femoral metaphyses NOT_TRANSLATED +HP:0045080 Decreased proportion of CD3+ T cells NOT_TRANSLATED +HP:0045081 Abnormal BMI NOT_TRANSLATED +HP:0045081 Abnormal body mass index NOT_TRANSLATED +HP:0045082 Decreased BMI NOT_TRANSLATED +HP:0045084 Myoclonus of limbs NOT_TRANSLATED +HP:0045085 Atrophied masseter muscle NOT_TRANSLATED +HP:0045085 Masseter muscle atrophy NOT_TRANSLATED +HP:0045086 Knee joint over-flexibility NOT_TRANSLATED +HP:0100006 Neoplasia of the central nervous system NOT_TRANSLATED +HP:0100006 Neoplasm of the CNS NOT_TRANSLATED +HP:0100006 Tumors of the central nervous system NOT_TRANSLATED +HP:0100006 Tumours of the central nervous system NOT_TRANSLATED +HP:0100007 Tumor of the peripheral nervous system NOT_TRANSLATED +HP:0100007 Tumour of the peripheral nervous system NOT_TRANSLATED +HP:0100008 Neurilemmoma NOT_TRANSLATED +HP:0100008 Neurinoma NOT_TRANSLATED +HP:0100008 Neurolemmoma NOT_TRANSLATED +HP:0100008 Schwann cell tumor NOT_TRANSLATED +HP:0100008 Schwann cell tumour NOT_TRANSLATED +HP:0100008 Schwannomas NOT_TRANSLATED +HP:0100012 Eye tumor NOT_TRANSLATED +HP:0100012 Eye tumour NOT_TRANSLATED +HP:0100012 Neoplasia of the eye NOT_TRANSLATED +HP:0100013 Breast tumor NOT_TRANSLATED +HP:0100013 Breast tumour NOT_TRANSLATED +HP:0100013 Neoplasia of the breast NOT_TRANSLATED +HP:0100013 Tumours of the breast NOT_TRANSLATED +HP:0100014 Epiretinal membranes NOT_TRANSLATED +HP:0100014 Macular pucker NOT_TRANSLATED +HP:0100014 Premacular fibrosis NOT_TRANSLATED +HP:0100015 Additional crus NOT_TRANSLATED +HP:0100015 Third crus NOT_TRANSLATED +HP:0100016 Abnormality of the mesentery NOT_TRANSLATED +HP:0100018 Yellowish cloudy center of lens NOT_TRANSLATED +HP:0100018 Yellowish cloudy centre of lens NOT_TRANSLATED +HP:0100021 CP NOT_TRANSLATED +HP:0100021 Cerebral paralysis NOT_TRANSLATED +HP:0100022 Movement disorder NOT_TRANSLATED +HP:0100022 Unusual movement NOT_TRANSLATED +HP:0100024 Conspicious happy aspect NOT_TRANSLATED +HP:0100024 Happy aspect NOT_TRANSLATED +HP:0100027 Recurring pancreas inflammation NOT_TRANSLATED +HP:0100027 Recurring pancreatitis NOT_TRANSLATED +HP:0100028 Aberrant thyroid NOT_TRANSLATED +HP:0100028 Aberrant thyroid gland NOT_TRANSLATED +HP:0100028 Abnormal thryoid location NOT_TRANSLATED +HP:0100028 Ectopic thyroid gland NOT_TRANSLATED +HP:0100028 Heteropic thyroid gland NOT_TRANSLATED +HP:0100031 Neoplasia of the thyroid gland NOT_TRANSLATED +HP:0100033 Tic disorder NOT_TRANSLATED +HP:0100035 Verbal tics NOT_TRANSLATED +HP:0100035 Vocal tics NOT_TRANSLATED +HP:0100036 Looser zones NOT_TRANSLATED +HP:0100040 Wide 2nd toe NOT_TRANSLATED +HP:0100041 Wide 3rd toe NOT_TRANSLATED +HP:0100042 Wide 4th toe NOT_TRANSLATED +HP:0100043 Broad little toe NOT_TRANSLATED +HP:0100043 Broad pinkie toe NOT_TRANSLATED +HP:0100043 Broad pinky toe NOT_TRANSLATED +HP:0100044 Absent end part of the 2nd toe bone NOT_TRANSLATED +HP:0100045 Bracket shaped end part of 2nd toe bone NOT_TRANSLATED +HP:0100046 Cone-shaped end part of the 2nd toe bone NOT_TRANSLATED +HP:0100047 Enlarged end part of the 2nd toe bone NOT_TRANSLATED +HP:0100048 Fragmentation of the end part of the 2nd toe bone NOT_TRANSLATED +HP:0100049 Irregular end part of the 2nd toe bone NOT_TRANSLATED +HP:0100050 Increased bone density of end part of the 2nd toe NOT_TRANSLATED +HP:0100052 Small end part of the 2nd toe bone NOT_TRANSLATED +HP:0100053 Speckled calcifications in the end part of the 2nd toe bone NOT_TRANSLATED +HP:0100054 Triangular end part of the 2nd toe bone NOT_TRANSLATED +HP:0100055 Absent end part of the 3rd toe NOT_TRANSLATED +HP:0100056 Bracket shaped end part of 3rd toe bone NOT_TRANSLATED +HP:0100057 Cone-shaped end part of the 3rd toe bone NOT_TRANSLATED +HP:0100058 Enlarged end part of the 3rd toe bone NOT_TRANSLATED +HP:0100059 Fragmentation of the end part of the 3rd toe bone NOT_TRANSLATED +HP:0100060 Irregular end part of the 3rd toe bone NOT_TRANSLATED +HP:0100061 Increased bone density of end part of the 3rd toe bone NOT_TRANSLATED +HP:0100063 Small end part of the 3rd toe bone NOT_TRANSLATED +HP:0100064 Speckled calcifications in the end part of the 3rd toe bone NOT_TRANSLATED +HP:0100065 Triangular end part of the 3rd toe bone NOT_TRANSLATED +HP:0100066 Absent end part of the 4th toe bone NOT_TRANSLATED +HP:0100067 Bracket shaped end part of 4th toe bone NOT_TRANSLATED +HP:0100068 Cone-shaped end part of the 4th toe bone NOT_TRANSLATED +HP:0100069 Enlarged end part of the 4th toe bone NOT_TRANSLATED +HP:0100070 Fragmentation of the end part of the 4th toe bone NOT_TRANSLATED +HP:0100071 Irregular end part of the 4th toe bone NOT_TRANSLATED +HP:0100072 Increased bone density of end part of the 4th toe bone NOT_TRANSLATED +HP:0100074 Small end part of the 4th toe bone NOT_TRANSLATED +HP:0100075 Speckled calcifications in the end part of the 4th toe bone NOT_TRANSLATED +HP:0100076 Triangular end part of the 4th toe bone NOT_TRANSLATED +HP:0100077 Absent end part of the little toe bone NOT_TRANSLATED +HP:0100077 Absent end part of the pinkie toe bone NOT_TRANSLATED +HP:0100077 Absent end part of the pinky toe bone NOT_TRANSLATED +HP:0100078 Bracket shaped end part of little toe bone NOT_TRANSLATED +HP:0100078 Bracket shaped end part of pinkie toe bone NOT_TRANSLATED +HP:0100078 Bracket shaped end part of pinky toe bone NOT_TRANSLATED +HP:0100079 Cone-shaped end part of the little toe bone NOT_TRANSLATED +HP:0100079 Cone-shaped end part of the pinkie toe bone NOT_TRANSLATED +HP:0100079 Cone-shaped end part of the pinky toe bone NOT_TRANSLATED +HP:0100080 Enlarged end part of the little toe bone NOT_TRANSLATED +HP:0100080 Enlarged end part of the pinkie toe bone NOT_TRANSLATED +HP:0100080 Enlarged end part of the pinky toe bone NOT_TRANSLATED +HP:0100081 Fragmentation of the end part of the little toe bone NOT_TRANSLATED +HP:0100081 Fragmentation of the end part of the pinkie toe bone NOT_TRANSLATED +HP:0100081 Fragmentation of the end part of the pinky toe bone NOT_TRANSLATED +HP:0100082 Irregular end part of the little toe bone NOT_TRANSLATED +HP:0100082 Irregular end part of the pinkie toe bone NOT_TRANSLATED +HP:0100082 Irregular end part of the pinky toe bone NOT_TRANSLATED +HP:0100083 Increased bone density of end part of the little toe bone NOT_TRANSLATED +HP:0100083 Increased bone density of end part of the pinkie toe bone NOT_TRANSLATED +HP:0100083 Increased bone density of end part of the pinky toe bone NOT_TRANSLATED +HP:0100085 Small end part of the little toe bone NOT_TRANSLATED +HP:0100085 Small end part of the pinkie toe bone NOT_TRANSLATED +HP:0100085 Small end part of the pinky toe bone NOT_TRANSLATED +HP:0100086 Speckled calcifications in the end part of the little toe bone NOT_TRANSLATED +HP:0100086 Speckled calcifications in the end part of the pinkie toe bone NOT_TRANSLATED +HP:0100086 Speckled calcifications in the end part of the pinky toe bone NOT_TRANSLATED +HP:0100087 Triangular end part of the little toe bone NOT_TRANSLATED +HP:0100087 Triangular end part of the pinkie toe bone NOT_TRANSLATED +HP:0100087 Triangular end part of the pinky toe bone NOT_TRANSLATED +HP:0100088 Abnormality of the end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100089 Abnormality of the end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100090 Abnormality of the end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100091 Abnormality of the end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100092 Abnormality of the end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100093 Abnormality of the end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100094 Abnormality of the end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100095 Abnormality of the end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100096 Abnormality of the end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100097 Abnormality of the end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100097 Abnormality of the end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100097 Abnormality of the end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100098 Abnormality of the end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100098 Abnormality of the end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100098 Abnormality of the end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100099 Abnormality of the end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100099 Abnormality of the end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100099 Abnormality of the end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100100 Absent end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100101 Bracket shaped end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100102 Cone-shaped end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100103 Enlarged end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100104 Fragmentation of the end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100105 Irregular end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100106 Increased bone density of end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100108 Small end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100109 Speckled calcifications in the end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100110 Triangular end part of the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100111 Absent end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100112 Bracket shaped end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100113 Cone-shaped end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100114 Enlarged end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100115 Fragmentation of the end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100116 Irregular end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100117 Increased bone density of end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100119 Small end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100120 Speckled calcifications in of the end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100121 Triangular end part of the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100122 Absent end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100123 Bracket shaped end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100124 Cone-shaped end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100125 Enlarged end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100126 Fragmentation of the end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100127 Irregular end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100128 Increased bone density of end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100130 Small end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100131 Speckled calcifications in the end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100132 Triangular end part of the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100135 Absent end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100136 Bracket shaped end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100137 Cone-shaped end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100138 Enlarged end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100139 Fragmentation of the end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100140 Irregular end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100141 Increased bone density of end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100143 Small end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100144 Speckled calcifications in the end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100145 Triangular end part of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100146 Absent end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100147 Bracket shaped end part of the middle bone of 3rd toe NOT_TRANSLATED +HP:0100148 Cone-shaped end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100149 Enlarged end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100150 Fragmentation of the end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100151 Irregular end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100152 Increased bone density of end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100154 Small end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100155 Speckled calcifications in the end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100156 Triangular end part of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100157 Absent end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100158 Bracket shaped end part of the innermost bone of 3rd toe NOT_TRANSLATED +HP:0100159 Cone-shaped end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100160 Enlarged end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100161 Fragmentation of the end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100162 Irregular end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100163 Increased bone density of end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100165 Small end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100166 Speckled calcifications in of the end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100167 Triangular end part of the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100168 Fragmented end part of bone NOT_TRANSLATED +HP:0100169 Absent end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100170 Bracket shaped end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100171 Cone-shaped end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100172 Enlarged end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100173 Fragmentation of the end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100174 Irregular end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100175 Increased bone density of end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100177 Small end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100178 Speckled calcifications in the end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100179 Triangular end part of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100180 Absent end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100181 Bracket shaped end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100182 Cone-shaped end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100183 Enlarged end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100184 Fragmentation of the end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100185 Irregular end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100186 Increased bone density of end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100188 Small end part of middle long bone of 4th toe NOT_TRANSLATED +HP:0100189 Speckled calcifications in the end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100190 Triangular end part of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100191 Absent end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100192 Bracket shaped end part of the innermost bone of 4th toe NOT_TRANSLATED +HP:0100193 Cone-shaped end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100194 Enlarged end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100195 Fragmentation of the end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100196 Irregular end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100197 Increased bone density of end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100199 Small end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100200 Speckled calcifications in the end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100201 Triangular end part of the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100202 Absent end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100202 Absent end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100202 Absent end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100203 Bracket shaped end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100203 Bracket shaped end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100203 Bracket shaped end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100204 Cone-shaped end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100204 Cone-shaped end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100204 Cone-shaped end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100205 Enlarged end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100205 Enlarged end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100205 Enlarged end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100206 Fragmentation of the end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100206 Fragmentation of the end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100206 Fragmentation of the end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100207 Irregular end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100207 Irregular end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100207 Irregular end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100208 Increased bone density of end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100208 Increased bone density of end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100208 Increased bone density of end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100210 Small end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100210 Small end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100210 Small end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100211 Speckled calcifications in the end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100211 Speckled calcifications in the end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100211 Speckled calcifications in the end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100212 Triangular end part of the outermost bone of the little toe NOT_TRANSLATED +HP:0100212 Triangular end part of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100212 Triangular end part of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100213 Absent end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100213 Absent end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100213 Absent end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100214 Bracket shaped end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100214 Bracket shaped end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100214 Bracket shaped end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100215 Cone-shaped end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100215 Cone-shaped end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100215 Cone-shaped end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100216 Enlarged end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100216 Enlarged end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100216 Enlarged end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100217 Fragmentation of the end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100217 Fragmentation of the end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100217 Fragmentation of the end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100218 Irregular end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100218 Irregular end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100218 Irregular end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100219 Increased bone density of end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100219 Increased bone density of end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100219 Increased bone density of end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100221 Small end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100221 Small end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100221 Small end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100222 Speckled calcifications in end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100222 Speckled calcifications in middle part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100222 Speckled calcifications in middle part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100223 Triangular end part of the middle bone of the little toe NOT_TRANSLATED +HP:0100223 Triangular end part of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100223 Triangular end part of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100224 Absent end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100224 Absent end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100224 Absent end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100225 Bracket shaped end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100225 Bracket shaped end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100225 Bracket shaped end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100226 Cone-shaped end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100226 Cone-shaped end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100226 Cone-shaped end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100227 Enlarged end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100227 Enlarged end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100227 Enlarged end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100228 Fragmentation of the end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100228 Fragmentation of the end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100228 Fragmentation of the end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100229 Irregular end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100229 Irregular end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100229 Irregular end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100230 Increased bone density of end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100230 Increased bone density of end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100230 Increased bone density of end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100232 Small end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100232 Small end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100232 Small end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100233 Speckled calcifications in the end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100233 Speckled calcifications in the end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100233 Speckled calcifications in the end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100234 Triangular end part of the innermost bone of the little toe NOT_TRANSLATED +HP:0100234 Triangular end part of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100234 Triangular end part of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100235 Fusion involving bones of the toes NOT_TRANSLATED +HP:0100238 Fusion involving bones of the upper limbs NOT_TRANSLATED +HP:0100240 Bony ankylosis NOT_TRANSLATED +HP:0100240 Fusion of joints NOT_TRANSLATED +HP:0100242 Cancer of connective tissue NOT_TRANSLATED +HP:0100242 Malignant connective tissue tumor NOT_TRANSLATED +HP:0100242 Malignant connective tissue tumour NOT_TRANSLATED +HP:0100245 Desmoid tumours NOT_TRANSLATED +HP:0100247 Hiccup NOT_TRANSLATED +HP:0100247 Hiccups NOT_TRANSLATED +HP:0100247 Recurrent hiccough NOT_TRANSLATED +HP:0100247 Recurrent hiccup NOT_TRANSLATED +HP:0100247 Recurrent synchronous diaphragmatic flutter NOT_TRANSLATED +HP:0100248 Ballismus NOT_TRANSLATED +HP:0100249 Skeletal muscle calcinosis NOT_TRANSLATED +HP:0100251 Lipomas of the central nervous system NOT_TRANSLATED +HP:0100253 Abnormality of the marrow cavity of the long bones NOT_TRANSLATED +HP:0100256 Braindruse NOT_TRANSLATED +HP:0100256 Neuritic plaques NOT_TRANSLATED +HP:0100256 Senile druse NOT_TRANSLATED +HP:0100257 Cleft hand NOT_TRANSLATED +HP:0100257 Lobster claw hand NOT_TRANSLATED +HP:0100258 Polydactyly, preaxial NOT_TRANSLATED +HP:0100259 Polydactyly, postaxial NOT_TRANSLATED +HP:0100259 Postaxial hexadactyly NOT_TRANSLATED +HP:0100260 Central polydactyly NOT_TRANSLATED +HP:0100260 Insertional polydactyly NOT_TRANSLATED +HP:0100260 Intercalary polydactyly NOT_TRANSLATED +HP:0100261 Abnormal shape of tendon NOT_TRANSLATED +HP:0100261 Abnormality of the sinew NOT_TRANSLATED +HP:0100262 Fusion involving digits NOT_TRANSLATED +HP:0100263 Symphalangism, distal NOT_TRANSLATED +HP:0100264 Cushing's symphalangism NOT_TRANSLATED +HP:0100265 Fusion of long bones of hand/long bones of foot NOT_TRANSLATED +HP:0100266 Carpal and tarsal fusions NOT_TRANSLATED +HP:0100266 Coalescence of carpal and tarsal bones NOT_TRANSLATED +HP:0100266 Fusion of carpal and tarsal bones NOT_TRANSLATED +HP:0100266 Wrist bone/ankle bone fusions NOT_TRANSLATED +HP:0100269 Paramedian labial pits NOT_TRANSLATED +HP:0100272 Branchial cleft sinus NOT_TRANSLATED +HP:0100273 Colon tumor NOT_TRANSLATED +HP:0100273 Colon tumour NOT_TRANSLATED +HP:0100276 Skin pits NOT_TRANSLATED +HP:0100277 Periauricular earpits NOT_TRANSLATED +HP:0100277 Periauricular fistulas NOT_TRANSLATED +HP:0100277 Periauricular pits NOT_TRANSLATED +HP:0100277 Periauricular sinus NOT_TRANSLATED +HP:0100277 Pits around the ear NOT_TRANSLATED +HP:0100279 Colitis ulcerosa NOT_TRANSLATED +HP:0100280 Granulomatous enteritis and colitis NOT_TRANSLATED +HP:0100280 Morbus Crohn NOT_TRANSLATED +HP:0100289 Abnormality of pattern reversal VEP NOT_TRANSLATED +HP:0100293 Muscle fiber hypertrophy NOT_TRANSLATED +HP:0100293 Muscle fibre hypertrophy NOT_TRANSLATED +HP:0100295 Muscle fiber degeneration NOT_TRANSLATED +HP:0100295 Muscle fibre atrophy NOT_TRANSLATED +HP:0100295 Muscle fibre degeneration NOT_TRANSLATED +HP:0100296 Perifascicular muscle fibre atrophy NOT_TRANSLATED +HP:0100297 Endomysial fibrosis NOT_TRANSLATED +HP:0100298 Motheaten muscle fibres NOT_TRANSLATED +HP:0100299 Muscle fibre inclusion bodies NOT_TRANSLATED +HP:0100301 Muscle fiber tubular aggregates NOT_TRANSLATED +HP:0100301 Muscle fibre tubular aggregates NOT_TRANSLATED +HP:0100301 Muscle fibre tubular inclusions NOT_TRANSLATED +HP:0100302 Muscle fiber tubuloreticular aggregates NOT_TRANSLATED +HP:0100302 Muscle fibre tubuloreticular aggregates NOT_TRANSLATED +HP:0100302 Muscle fibre tubuloreticular inclusions NOT_TRANSLATED +HP:0100303 Muscle fiber cytoplasmic bodies NOT_TRANSLATED +HP:0100303 Muscle fibre cytoplasmatic inclusion bodies NOT_TRANSLATED +HP:0100303 Muscle fibre cytoplasmic bodies NOT_TRANSLATED +HP:0100304 Muscle fibre intranuclear inclusion bodies NOT_TRANSLATED +HP:0100305 Ring fibres NOT_TRANSLATED +HP:0100306 Muscle fibre hyaline bodies NOT_TRANSLATED +HP:0100309 Subdural haematoma NOT_TRANSLATED +HP:0100309 Subdural haemorrhage NOT_TRANSLATED +HP:0100309 Subdural hematoma NOT_TRANSLATED +HP:0100310 Epidural haematoma NOT_TRANSLATED +HP:0100310 Epidural haemorrhage NOT_TRANSLATED +HP:0100310 Epidural hematoma NOT_TRANSLATED +HP:0100310 Extradural haematoma NOT_TRANSLATED +HP:0100310 Extradural hematoma NOT_TRANSLATED +HP:0100315 Lewy body disease NOT_TRANSLATED +HP:0100317 Agyrophilic inclusion bodies NOT_TRANSLATED +HP:0100317 Pick inclusion bodies NOT_TRANSLATED +HP:0100319 Cerebral colloid bodies NOT_TRANSLATED +HP:0100320 Rosenthal fibres NOT_TRANSLATED +HP:0100321 Abnormality of the dentate nucleus NOT_TRANSLATED +HP:0100322 Absent pyramidal tract NOT_TRANSLATED +HP:0100323 Aseptic epiphyseal necrosis NOT_TRANSLATED +HP:0100324 Progressive systemic scleroderma NOT_TRANSLATED +HP:0100324 Pseudoscleroderma NOT_TRANSLATED +HP:0100327 IgE-mediated cow milk allergy NOT_TRANSLATED +HP:0100327 Immunoglobulin E-mediated cow milk allergy NOT_TRANSLATED +HP:0100327 Milk allergy NOT_TRANSLATED +HP:0100328 Fused wrist bones and long bones of hand NOT_TRANSLATED +HP:0100329 Fused bones of the midfoot NOT_TRANSLATED +HP:0100333 One sided cleft upper lip NOT_TRANSLATED +HP:0100333 Unilateral cheiloschisis NOT_TRANSLATED +HP:0100333 Unilateral cleft upper lip NOT_TRANSLATED +HP:0100334 One sided cleft palate NOT_TRANSLATED +HP:0100334 Unilateral palatoschisis NOT_TRANSLATED +HP:0100335 Non-midline cleft of the upper lip NOT_TRANSLATED +HP:0100335 Paramedian cleft of the upper lip NOT_TRANSLATED +HP:0100336 Bilateral cheiloschisis NOT_TRANSLATED +HP:0100336 Both sided cleft lip NOT_TRANSLATED +HP:0100336 Right and left cleft lip NOT_TRANSLATED +HP:0100337 Bilateral palatoschisis NOT_TRANSLATED +HP:0100337 Right and left cleft palate NOT_TRANSLATED +HP:0100338 Paramedian cleft palate NOT_TRANSLATED +HP:0100348 Camptodactyly of the 2nd toe NOT_TRANSLATED +HP:0100348 Camptodactyly of the second toe NOT_TRANSLATED +HP:0100349 Camptodactyly of the 3rd toe NOT_TRANSLATED +HP:0100350 Camptodactyly of the 4th toe NOT_TRANSLATED +HP:0100350 Camptodactyly of the fourth toe NOT_TRANSLATED +HP:0100350 Contracture of the innermost hinge joint of the 4th toe NOT_TRANSLATED +HP:0100351 Camptodactyly of the 5th toe NOT_TRANSLATED +HP:0100351 Camptodactyly of the fifth toe NOT_TRANSLATED +HP:0100352 Contracture of the distal interphalangeal joint of the second toe NOT_TRANSLATED +HP:0100355 Contracture of the outermost hinge joint of the 5th toe NOT_TRANSLATED +HP:0100360 Contractures of the joints of the upper limbs NOT_TRANSLATED +HP:0100362 Absent digital bone of the 3rd toe NOT_TRANSLATED +HP:0100363 Absent bones of the 4th toe NOT_TRANSLATED +HP:0100364 Absent little toe bones NOT_TRANSLATED +HP:0100364 Absent pinkie toe bones NOT_TRANSLATED +HP:0100364 Absent pinky toe bones NOT_TRANSLATED +HP:0100366 Hypoplastic/small phalanges of the 3rd toe NOT_TRANSLATED +HP:0100366 Short 3rd toe bone NOT_TRANSLATED +HP:0100366 Short phalanx of the third toe NOT_TRANSLATED +HP:0100367 Hypoplastic/small phalanges of the 4th toe NOT_TRANSLATED +HP:0100367 Short 4th toe bone NOT_TRANSLATED +HP:0100367 Short phalanx of the fourth toe NOT_TRANSLATED +HP:0100368 Hypoplastic/small phalanges of the 5th toe NOT_TRANSLATED +HP:0100368 Short little toe bone NOT_TRANSLATED +HP:0100368 Short phalanx of the fifth toe NOT_TRANSLATED +HP:0100368 Short pinkie toe bone NOT_TRANSLATED +HP:0100368 Short pinky toe bone NOT_TRANSLATED +HP:0100369 Absent/small outermost 3rd toe bone NOT_TRANSLATED +HP:0100369 Absent/underdeveloped outermost 3rd toe bone NOT_TRANSLATED +HP:0100370 Absent/small outermost bone of 4th toe NOT_TRANSLATED +HP:0100370 Absent/underdeveloped outermost bone of 4th toe NOT_TRANSLATED +HP:0100371 Absent/small outermost little toe bone NOT_TRANSLATED +HP:0100371 Absent/small outermost pinkie toe bone NOT_TRANSLATED +HP:0100371 Absent/small outermost pinky toe bone NOT_TRANSLATED +HP:0100371 Absent/underdeveloped outermost pinky toe bone NOT_TRANSLATED +HP:0100372 Absent/small middle 3rd toe bone NOT_TRANSLATED +HP:0100372 Absent/underdeveloped middle 3rd toe bone NOT_TRANSLATED +HP:0100373 Absent/small middle bone of the 4th toe NOT_TRANSLATED +HP:0100373 Absent/underdeveloped middle bone of the 4th toe NOT_TRANSLATED +HP:0100374 Absent/small middle 5th toe bone NOT_TRANSLATED +HP:0100374 Absent/underdeveloped middle bone of little toe NOT_TRANSLATED +HP:0100374 Absent/underdeveloped middle bone of pinkie toe NOT_TRANSLATED +HP:0100374 Absent/underdeveloped middle bone of pinky toe NOT_TRANSLATED +HP:0100375 Absent/small innermost bone of 3rd toe NOT_TRANSLATED +HP:0100375 Absent/underdeveloped innermost bone of 3rd toe NOT_TRANSLATED +HP:0100376 Absent/small innermost 4th toe bone NOT_TRANSLATED +HP:0100376 Absent/underdeveloped innermost 4th toe bone NOT_TRANSLATED +HP:0100377 Absent/small innermost little toe bone NOT_TRANSLATED +HP:0100377 Absent/small innermost pinkie toe bone NOT_TRANSLATED +HP:0100377 Absent/small innermost pinky toe bone NOT_TRANSLATED +HP:0100377 Absent/underdeveloped innermost 5th toe bone NOT_TRANSLATED +HP:0100378 Absent distal phalanx of the third toe NOT_TRANSLATED +HP:0100378 Absent outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100378 Aplasia of the distal phalanx of the 3rd toe NOT_TRANSLATED +HP:0100379 Absent distal phalanx of the 4th toe NOT_TRANSLATED +HP:0100379 Absent outermost bone of the 4th toe NOT_TRANSLATED +HP:0100380 Absent outermost bone of the little toe NOT_TRANSLATED +HP:0100380 Absent outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100380 Absent outermost bone of the pinky toe NOT_TRANSLATED +HP:0100381 Absent middle bone of the 3rd toe NOT_TRANSLATED +HP:0100381 Absent middle phalanx of the third toe NOT_TRANSLATED +HP:0100381 Aplasia of the middle phalanx of the 3rd toe NOT_TRANSLATED +HP:0100382 Absent middle bone of 4th toe NOT_TRANSLATED +HP:0100383 Absent middle bone of little toe NOT_TRANSLATED +HP:0100383 Absent middle bone of pinkie toe NOT_TRANSLATED +HP:0100383 Absent middle bone of pinky toe NOT_TRANSLATED +HP:0100384 Absent innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100384 Aplasia of the proximal phalanx of the 3rd toe NOT_TRANSLATED +HP:0100385 Absent innermost bone of the 4th toe NOT_TRANSLATED +HP:0100386 Absent innermost bone of the little toe NOT_TRANSLATED +HP:0100386 Absent innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100386 Absent innermost bone of the pinky toe NOT_TRANSLATED +HP:0100387 Absent middle toe bones NOT_TRANSLATED +HP:0100388 Absent innermost toe bones NOT_TRANSLATED +HP:0100389 Hypoplastic/small distal phalanx of the 3rd toe NOT_TRANSLATED +HP:0100389 Short distal phalanx of the third toe NOT_TRANSLATED +HP:0100389 Short outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100390 Hypoplastic/small distal phalanx of the 4th toe NOT_TRANSLATED +HP:0100390 Short distal phalanx of the fourth toe NOT_TRANSLATED +HP:0100390 Short outermost bone of the 4th toe NOT_TRANSLATED +HP:0100391 Hypoplastic/small distal phalanx of the 5th toe NOT_TRANSLATED +HP:0100391 Short distal phalanx of the fifth toe NOT_TRANSLATED +HP:0100391 Short outermost bone of the little toe NOT_TRANSLATED +HP:0100391 Short outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100391 Short outermost bone of the pinky toe NOT_TRANSLATED +HP:0100392 Hypoplastic/small middle phalanx of the 3rd toe NOT_TRANSLATED +HP:0100392 Short middle phalanx of the third toe NOT_TRANSLATED +HP:0100393 Hypoplastic/small middle phalanx of the 4th toe NOT_TRANSLATED +HP:0100393 Short middle bone of 4th toe NOT_TRANSLATED +HP:0100393 Short middle phalanx of the fourth toe NOT_TRANSLATED +HP:0100394 Hypoplastic/small middle phalanx of the 5th toe NOT_TRANSLATED +HP:0100394 Short middle bone of little toe NOT_TRANSLATED +HP:0100394 Short middle bone of pinkie toe NOT_TRANSLATED +HP:0100394 Short middle bone of pinky toe NOT_TRANSLATED +HP:0100394 Short middle phalanx of the fifth toe NOT_TRANSLATED +HP:0100395 Hypoplastic/small proximal phalanx of the 3rd toe NOT_TRANSLATED +HP:0100395 Short proximal phalanx of the third toe NOT_TRANSLATED +HP:0100396 Hypoplastic/small proximal phalanx of the 4th toe NOT_TRANSLATED +HP:0100396 Short fourth toe proximal phalanx NOT_TRANSLATED +HP:0100396 Short proximal phalanx of the fourth toe NOT_TRANSLATED +HP:0100397 Hypoplastic/small proximal phalanx of the 5th toe NOT_TRANSLATED +HP:0100397 Short innermost bone of little toe NOT_TRANSLATED +HP:0100397 Short innermost bone of pinkie toe NOT_TRANSLATED +HP:0100397 Short innermost bone of pinky toe NOT_TRANSLATED +HP:0100397 Short proximal phalanx of the fifth toe NOT_TRANSLATED +HP:0100398 Duplication of the distal phalanx of the third toe NOT_TRANSLATED +HP:0100398 Duplication of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100398 Partial/complete duplication of the distal phalanx of the 3rd toe NOT_TRANSLATED +HP:0100399 Duplication of the distal phalanx of the fourth toe NOT_TRANSLATED +HP:0100399 Duplication of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100399 Partial/complete duplication of the distal phalanx of the 4th toe NOT_TRANSLATED +HP:0100400 Duplication of the distal phalanx of the fifth toe NOT_TRANSLATED +HP:0100400 Duplication of the outermost bone of the fifth toe NOT_TRANSLATED +HP:0100400 Duplication of the outermost bone of the little toe NOT_TRANSLATED +HP:0100400 Duplication of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100400 Duplication of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100400 Partial/complete duplication of the distal phalanx of the 5th toe NOT_TRANSLATED +HP:0100401 Duplication of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100401 Duplication of the middle phalanx of the third toe NOT_TRANSLATED +HP:0100401 Partial/complete duplication of the middle phalanx of the 3rd toe NOT_TRANSLATED +HP:0100402 Duplication of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100402 Duplication of the middle phalanx of the fourth toe NOT_TRANSLATED +HP:0100402 Partial/complete duplication of the middle phalanx of the 4th toe NOT_TRANSLATED +HP:0100403 Duplication of the middle bone of the little toe NOT_TRANSLATED +HP:0100403 Duplication of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100403 Duplication of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100403 Duplication of the middle phalanx of the fifth toe NOT_TRANSLATED +HP:0100403 Partial/complete duplication of the middle phalanx of the 5th toe NOT_TRANSLATED +HP:0100404 Duplication of the innermost 3rd toe bone NOT_TRANSLATED +HP:0100404 Duplication of the proximal phalanx of the third toe NOT_TRANSLATED +HP:0100404 Partial/complete duplication of the proximal phalanx of the 3rd toe NOT_TRANSLATED +HP:0100405 Duplication of the innermost 4th toe bone NOT_TRANSLATED +HP:0100405 Duplication of the proximal phalanx of the fourth toe NOT_TRANSLATED +HP:0100405 Partial/complete duplication of the proximal phalanx of the 4th toe NOT_TRANSLATED +HP:0100406 Duplication of the innermost bone of the little toe NOT_TRANSLATED +HP:0100406 Duplication of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100406 Duplication of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100406 Duplication of the proximal phalanx of the fifth toe NOT_TRANSLATED +HP:0100406 Partial/complete duplication of the proximal phalanx of the 5th toe NOT_TRANSLATED +HP:0100407 Complete duplication of the distal phalanx of the third toe NOT_TRANSLATED +HP:0100407 Complete duplication of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100408 Complete duplication of the distal phalanx of the fourth toe NOT_TRANSLATED +HP:0100408 Complete duplication of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100409 Complete duplication of the distal phalanx of the fifth toe NOT_TRANSLATED +HP:0100409 Complete duplication of the outermost bone of the little toe NOT_TRANSLATED +HP:0100409 Complete duplication of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100409 Complete duplication of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100410 Complete duplication of the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100410 Complete duplication of the middle phalanx of the third toe NOT_TRANSLATED +HP:0100411 Complete duplication of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100411 Complete duplication of the middle phalanx of the fourth toe NOT_TRANSLATED +HP:0100412 Complete duplication of the middle bone of the little toe NOT_TRANSLATED +HP:0100412 Complete duplication of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100412 Complete duplication of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100412 Complete duplication of the middle phalanx of the fifth toe NOT_TRANSLATED +HP:0100413 Complete duplication of the innermost 3rd toe bone NOT_TRANSLATED +HP:0100414 Complete duplication of the innermost 4th toe bone NOT_TRANSLATED +HP:0100415 Complete duplication of the innermost bone of the little toe NOT_TRANSLATED +HP:0100415 Complete duplication of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100415 Complete duplication of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100415 Complete duplication of the proximal phalanx of the fifth toe NOT_TRANSLATED +HP:0100416 Partial duplication of the distal phalanx of the third toe NOT_TRANSLATED +HP:0100416 Partial duplication of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100417 Partial duplication of the distal phalanx of the fourth toe NOT_TRANSLATED +HP:0100417 Partial duplication of the outermost bone of the fourth toe NOT_TRANSLATED +HP:0100418 Partial duplication of the distal phalanx of the fifth toe NOT_TRANSLATED +HP:0100418 Partial duplication of the outermost bone of the fifth toe NOT_TRANSLATED +HP:0100418 Partial duplication of the outermost bone of the little toe NOT_TRANSLATED +HP:0100418 Partial duplication of the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100418 Partial duplication of the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100419 Partial duplication of the middle bone of 3rd toe NOT_TRANSLATED +HP:0100419 Partial duplication of the middle phalanx of the third toe NOT_TRANSLATED +HP:0100420 Partial duplication of the middle bone of the 4th toe NOT_TRANSLATED +HP:0100420 Partial duplication of the middle phalanx of the fourth toe NOT_TRANSLATED +HP:0100421 Partial duplication of the middle bone of the little toe NOT_TRANSLATED +HP:0100421 Partial duplication of the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100421 Partial duplication of the middle bone of the pinky toe NOT_TRANSLATED +HP:0100421 Partial duplication of the middle phalanx of the fifth toe NOT_TRANSLATED +HP:0100422 Partial duplication of the innermost bone of 3rd toe NOT_TRANSLATED +HP:0100422 Partial duplication of the proximal phalanx of the third toe NOT_TRANSLATED +HP:0100423 Partial duplication of the innermost bone of 4th toe NOT_TRANSLATED +HP:0100424 Partial duplication of the innermost bone of the little toe NOT_TRANSLATED +HP:0100424 Partial duplication of the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100424 Partial duplication of the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100424 Partial duplication of the proximal phalanx of the fifth toe NOT_TRANSLATED +HP:0100425 Broad middle 3rd toe bone NOT_TRANSLATED +HP:0100426 Broad middle 4th toe bone NOT_TRANSLATED +HP:0100427 Broad middle bone of the little toe NOT_TRANSLATED +HP:0100427 Broad middle bone of the pinkie toe NOT_TRANSLATED +HP:0100427 Broad middle bone of the pinky toe NOT_TRANSLATED +HP:0100428 Wide innermost bone of 3rd toe NOT_TRANSLATED +HP:0100429 Wide innermost bone of 4th toe NOT_TRANSLATED +HP:0100430 Broad innermost bone of the little toe NOT_TRANSLATED +HP:0100430 Broad innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100430 Broad innermost bone of the pinky toe NOT_TRANSLATED +HP:0100431 Broad outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100431 Wide outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100432 Broad outermost bone of the 4th toe NOT_TRANSLATED +HP:0100432 Wide outermost bone of the 4th toe NOT_TRANSLATED +HP:0100433 Broad outermost bone of the 5th toe NOT_TRANSLATED +HP:0100433 Wide outermost bone of the little toe NOT_TRANSLATED +HP:0100433 Wide outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100433 Wide outermost bone of the pinky toe NOT_TRANSLATED +HP:0100434 Bullet-shaped middle bone of the 3rd toe NOT_TRANSLATED +HP:0100435 Bullet-shaped middle bone of the 4th toe NOT_TRANSLATED +HP:0100436 Bullet-shaped middle bone of the little toe NOT_TRANSLATED +HP:0100436 Bullet-shaped middle bone of the pinkie toe NOT_TRANSLATED +HP:0100436 Bullet-shaped middle bone of the pinky toe NOT_TRANSLATED +HP:0100437 Bullet-shaped proximal bone of the 3rd toe NOT_TRANSLATED +HP:0100438 Bullet-shaped proximal bone of the 4th toe NOT_TRANSLATED +HP:0100439 Bullet-shaped innermost bone of little toe NOT_TRANSLATED +HP:0100439 Bullet-shaped innermost bone of pinkie toe NOT_TRANSLATED +HP:0100439 Bullet-shaped innermost bone of pinky toe NOT_TRANSLATED +HP:0100440 Bullet-shaped outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100441 Bullet-shaped outermost bone of the 4th toe NOT_TRANSLATED +HP:0100442 Bullet-shaped outermost bone of the little toe NOT_TRANSLATED +HP:0100442 Bullet-shaped outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100442 Bullet-shaped outermost bone of the pinky toe NOT_TRANSLATED +HP:0100443 Curved middle bone of 3rd toe NOT_TRANSLATED +HP:0100444 Curved middle bone of 4th toe NOT_TRANSLATED +HP:0100445 Curved middle bone of little toe NOT_TRANSLATED +HP:0100445 Curved middle bone of pinkie toe NOT_TRANSLATED +HP:0100445 Curved middle bone of pinky toe NOT_TRANSLATED +HP:0100446 Curved innermost bone of 3rd toe NOT_TRANSLATED +HP:0100447 Curved innermost bone of the 4th toe NOT_TRANSLATED +HP:0100448 Curved innermost little toe bone NOT_TRANSLATED +HP:0100448 Curved innermost pinkie toe bone NOT_TRANSLATED +HP:0100448 Curved innermost pinky toe bone NOT_TRANSLATED +HP:0100449 Curved outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100450 Curved outermost bone of the 4th toe NOT_TRANSLATED +HP:0100451 Curved outermost bone of the little toe NOT_TRANSLATED +HP:0100451 Curved outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100451 Curved outermost bone of the pinky toe NOT_TRANSLATED +HP:0100458 Osteolytic defects of the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100459 Osteolytic defects of the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100460 Osteolytic defects of the outermost bone of the 5th toe NOT_TRANSLATED +HP:0100461 Uneven increase in bone density in the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100462 Uneven increase in bone density in middle bone of the 4th toe NOT_TRANSLATED +HP:0100463 Uneven increase in bone density in the middle bone of the little toe NOT_TRANSLATED +HP:0100463 Uneven increase in bone density in the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100463 Uneven increase in bone density in the middle bone of the pinky toe NOT_TRANSLATED +HP:0100464 Uneven increase in bone density in the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100465 Uneven increase in bone density in the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100466 Uneven increase in bone density in the innermost bone of the little toe NOT_TRANSLATED +HP:0100466 Uneven increase in bone density in the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100466 Uneven increase in bone density in the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100467 Uneven increase in bone density in the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100468 Uneven increase in bone density in the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100469 Uneven increase in bone density in the outermost little toe bone NOT_TRANSLATED +HP:0100469 Uneven increase in bone density in the outermost pinkie toe bone NOT_TRANSLATED +HP:0100469 Uneven increase in bone density in the outermost pinky toe bone NOT_TRANSLATED +HP:0100470 Fused middle bones of 3rd toe NOT_TRANSLATED +HP:0100471 Fused middle bones of 4th toe NOT_TRANSLATED +HP:0100472 Fused middle bones of 5th toe NOT_TRANSLATED +HP:0100473 Fused innermost bone of 3rd toe NOT_TRANSLATED +HP:0100474 Fused innermost bones of 4th toe NOT_TRANSLATED +HP:0100475 Fused innermost bone of little toe NOT_TRANSLATED +HP:0100475 Fused innermost bone of pinkie toe NOT_TRANSLATED +HP:0100475 Fused innermost bone of pinky toe NOT_TRANSLATED +HP:0100476 Fused outermost bone of 3rd toe NOT_TRANSLATED +HP:0100477 Fused outermost bone of the 4th toe NOT_TRANSLATED +HP:0100478 Fused outermost bones of the little toe NOT_TRANSLATED +HP:0100478 Fused outermost bones of the pinkie toe NOT_TRANSLATED +HP:0100478 Fused outermost bones of the pinky toe NOT_TRANSLATED +HP:0100480 Fused innermost and middle bones of 3rd toe NOT_TRANSLATED +HP:0100480 Symphalangism of the middle and proximal phalanges of the 3rd toe NOT_TRANSLATED +HP:0100481 Fused innermost and middle bones of 4th toe NOT_TRANSLATED +HP:0100481 Symphalangism of the middle and proximal phalanges of the 4th toe NOT_TRANSLATED +HP:0100482 Fused innermost and middle little toe bones NOT_TRANSLATED +HP:0100482 Fused innermost and middle pinkie toe bones NOT_TRANSLATED +HP:0100482 Fused innermost and middle pinky toe bones NOT_TRANSLATED +HP:0100482 Symphalangism of the middle and proximal phalanges of the 5th toe NOT_TRANSLATED +HP:0100483 Fused innermost bone of 2nd toe with the 2nd long bone of foot NOT_TRANSLATED +HP:0100484 Fused innermost bones of third toe with 3rd long bone of foot NOT_TRANSLATED +HP:0100485 Fused innermost bone of the 4th toe with 4th long bone of foot NOT_TRANSLATED +HP:0100486 Fused innermost pinky toe bone with the 5th long bone of foot NOT_TRANSLATED +HP:0100487 Triangular shaped outermost bone of the little toe NOT_TRANSLATED +HP:0100487 Triangular shaped outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100487 Triangular shaped outermost bone of the pinky toe NOT_TRANSLATED +HP:0100488 Fusion of the innermost big toe bone with the 1st long bone of foot NOT_TRANSLATED +HP:0100489 Fused middle and innermost bones of 2nd toe NOT_TRANSLATED +HP:0100489 Symphalangism of the middle and proximal phalanges of the 2nd toe NOT_TRANSLATED +HP:0100490 Camptodactyly of hands NOT_TRANSLATED +HP:0100490 Camptodactyly of proximal interphalangeal joint NOT_TRANSLATED +HP:0100490 Contractures of the proximal interphalangeal joints of the fingers NOT_TRANSLATED +HP:0100490 Flexion contractures of proximal interphalangeal joints NOT_TRANSLATED +HP:0100490 Permanent flexion of the finger NOT_TRANSLATED +HP:0100490 Proximal interphalangeal finger joint contractures NOT_TRANSLATED +HP:0100491 Abnormality of the joints of the lower limbs NOT_TRANSLATED +HP:0100494 Abnormality of mast cells NOT_TRANSLATED +HP:0100494 Abnormality of mastocytes NOT_TRANSLATED +HP:0100499 Medial deviation of toes NOT_TRANSLATED +HP:0100500 Lateral deviation of toes NOT_TRANSLATED +HP:0100503 Reduced blood thiamine level NOT_TRANSLATED +HP:0100503 Vitamin B1 deficiency NOT_TRANSLATED +HP:0100504 Riboflavin deficiency NOT_TRANSLATED +HP:0100504 Vitamin B2 deficiency NOT_TRANSLATED +HP:0100505 Vitamin B5 deficiency NOT_TRANSLATED +HP:0100506 Vitamin B8 deficiency NOT_TRANSLATED +HP:0100507 Folate deficiency NOT_TRANSLATED +HP:0100507 Vitamin B9 deficiency NOT_TRANSLATED +HP:0100510 Vitamin C deficiency NOT_TRANSLATED +HP:0100512 Deficient in vitamin D NOT_TRANSLATED +HP:0100512 Vitamin D deficiency NOT_TRANSLATED +HP:0100513 Alpha-tocopherol deficiency NOT_TRANSLATED +HP:0100513 Vitamin E deficiency NOT_TRANSLATED +HP:0100515 Constant urination NOT_TRANSLATED +HP:0100515 Frequent urination NOT_TRANSLATED +HP:0100516 Neoplasia of the ureters NOT_TRANSLATED +HP:0100516 ureter, cancer of NOT_TRANSLATED +HP:0100517 Neoplasia of the urethra NOT_TRANSLATED +HP:0100518 Dull burning sensation with urination NOT_TRANSLATED +HP:0100518 Painful or difficult urination NOT_TRANSLATED +HP:0100519 Absent urine output NOT_TRANSLATED +HP:0100523 Hepatic abscess NOT_TRANSLATED +HP:0100524 Dimelia NOT_TRANSLATED +HP:0100526 Lung cancer NOT_TRANSLATED +HP:0100526 Lung tumor NOT_TRANSLATED +HP:0100526 Lung tumour NOT_TRANSLATED +HP:0100529 Abnormality of phosphate homeostasis NOT_TRANSLATED +HP:0100530 Abnormal Ca-PHOS regulating hormone level NOT_TRANSLATED +HP:0100530 Abnormal Ca2+ PO4 regulating hormone level NOT_TRANSLATED +HP:0100532 Inflammation of the outer white part of the eye NOT_TRANSLATED +HP:0100533 Ocular inflammation NOT_TRANSLATED +HP:0100534 Inflammation of the thin layer on top of the white part of eye NOT_TRANSLATED +HP:0100537 Inflammation of the fascia NOT_TRANSLATED +HP:0100538 Abnormality of the brow of the face NOT_TRANSLATED +HP:0100538 Deformity of the supraorbital margins NOT_TRANSLATED +HP:0100538 Deformity of the supraorbital ridges NOT_TRANSLATED +HP:0100538 Malformation of the supraorbital margins NOT_TRANSLATED +HP:0100538 Malformation of the supraorbital ridges NOT_TRANSLATED +HP:0100539 Periorbital cellulitis NOT_TRANSLATED +HP:0100539 Periorbital oedema NOT_TRANSLATED +HP:0100540 Edema of the eyelids NOT_TRANSLATED +HP:0100540 Eyelid edema NOT_TRANSLATED +HP:0100540 Eyelid oedema NOT_TRANSLATED +HP:0100540 Fullness of eyelids NOT_TRANSLATED +HP:0100540 Oedema of the eyelids NOT_TRANSLATED +HP:0100540 Palpebral oedema NOT_TRANSLATED +HP:0100540 Puffy eyelids NOT_TRANSLATED +HP:0100540 Puffy lids NOT_TRANSLATED +HP:0100540 Swelling of eyelids NOT_TRANSLATED +HP:0100541 Crural hernia NOT_TRANSLATED +HP:0100542 Abnormal localisation of kidneys NOT_TRANSLATED +HP:0100543 Abnormality of cognition NOT_TRANSLATED +HP:0100543 Cognitive abnormality NOT_TRANSLATED +HP:0100543 Cognitive defects NOT_TRANSLATED +HP:0100543 Cognitive deficits NOT_TRANSLATED +HP:0100543 Intellectual impairment NOT_TRANSLATED +HP:0100544 Cardiac neoplasia NOT_TRANSLATED +HP:0100544 Cardiac neoplasm NOT_TRANSLATED +HP:0100544 Heart tumor NOT_TRANSLATED +HP:0100544 Heart tumour NOT_TRANSLATED +HP:0100545 Narrowing of an artery NOT_TRANSLATED +HP:0100546 Carotid stenosis NOT_TRANSLATED +HP:0100546 Narrowing of carotid artery NOT_TRANSLATED +HP:0100547 Abnormal shape of forebrain NOT_TRANSLATED +HP:0100547 Abnormality of forebrain morphology NOT_TRANSLATED +HP:0100547 Abnormality of the forebrain NOT_TRANSLATED +HP:0100550 Rupture of tendons NOT_TRANSLATED +HP:0100550 Ruptured tendon NOT_TRANSLATED +HP:0100550 Tendon/muscle rupture NOT_TRANSLATED +HP:0100551 Tracheal neoplasm NOT_TRANSLATED +HP:0100553 Overgrowth of one leg NOT_TRANSLATED +HP:0100554 Overgrowth of one arm NOT_TRANSLATED +HP:0100555 Uneven or disproportionate growth of one body part compared to another NOT_TRANSLATED +HP:0100556 Asymmetric limb shortening NOT_TRANSLATED +HP:0100556 Hemiatrophy of the body NOT_TRANSLATED +HP:0100557 Asymmetric lower limb shortening NOT_TRANSLATED +HP:0100558 Asymmetric upper limb shortening NOT_TRANSLATED +HP:0100558 Hemihypotrophy of upper limb NOT_TRANSLATED +HP:0100559 Left and right leg differ in length or width NOT_TRANSLATED +HP:0100559 Leg length discrepancy NOT_TRANSLATED +HP:0100560 Unequal size of arms NOT_TRANSLATED +HP:0100562 Duplication of spinal cord NOT_TRANSLATED +HP:0100564 Triplication of spinal cord NOT_TRANSLATED +HP:0100566 Absent spinal cord NOT_TRANSLATED +HP:0100568 Endocrine neoplasia NOT_TRANSLATED +HP:0100569 Abnormal bone maturation of vertebra NOT_TRANSLATED +HP:0100569 Abnormal vertebral ossification NOT_TRANSLATED +HP:0100569 Abnormality of ossification/mineralisation of vertebrae NOT_TRANSLATED +HP:0100570 Carcinoid NOT_TRANSLATED +HP:0100570 Carcinoid tumors NOT_TRANSLATED +HP:0100570 Carcinoid tumour NOT_TRANSLATED +HP:0100570 Carcinoid tumours NOT_TRANSLATED +HP:0100571 Ventricular diverticulum NOT_TRANSLATED +HP:0100572 Congenital ventricular aneurysm NOT_TRANSLATED +HP:0100574 Neoplasia of the biliary tract NOT_TRANSLATED +HP:0100575 Neoplasia of the gallbladder NOT_TRANSLATED +HP:0100577 Cystitis of the urinary bladder NOT_TRANSLATED +HP:0100578 Atrophy of fat NOT_TRANSLATED +HP:0100578 Loss of fat tissue in localised area NOT_TRANSLATED +HP:0100578 Loss of fat tissue in localized area NOT_TRANSLATED +HP:0100580 Barret syndrome NOT_TRANSLATED +HP:0100580 Barrett oesophagus NOT_TRANSLATED +HP:0100580 Barrett's esophagus NOT_TRANSLATED +HP:0100580 Barrett's oesophagus NOT_TRANSLATED +HP:0100580 Endobrachyesophagus NOT_TRANSLATED +HP:0100581 Caliceal dilatation NOT_TRANSLATED +HP:0100581 Caliectasis NOT_TRANSLATED +HP:0100581 Megacalicosis NOT_TRANSLATED +HP:0100582 Nasal polyps NOT_TRANSLATED +HP:0100582 Polyposis nasi NOT_TRANSLATED +HP:0100582 Polyps of nose NOT_TRANSLATED +HP:0100583 Iridocele NOT_TRANSLATED +HP:0100585 Teleangiectasia of the skin NOT_TRANSLATED +HP:0100586 Aseptic leukocyturia NOT_TRANSLATED +HP:0100587 Abnormality of the preputium NOT_TRANSLATED +HP:0100596 Abouphalia NOT_TRANSLATED +HP:0100596 Aplasia of the nares NOT_TRANSLATED +HP:0100596 Aplasia/Hypoplasia of the nares NOT_TRANSLATED +HP:0100596 Missing nostrils NOT_TRANSLATED +HP:0100598 Excess fluid in lungs NOT_TRANSLATED +HP:0100598 Lung edema NOT_TRANSLATED +HP:0100598 Lung oedema NOT_TRANSLATED +HP:0100598 Pulmonary oedema NOT_TRANSLATED +HP:0100598 Wet lung NOT_TRANSLATED +HP:0100599 Diphallia NOT_TRANSLATED +HP:0100599 Penile duplication NOT_TRANSLATED +HP:0100600 Prepenile scrotum NOT_TRANSLATED +HP:0100602 Pre-eclampsia NOT_TRANSLATED +HP:0100603 Hypertensive disorder of pregnancy NOT_TRANSLATED +HP:0100603 Toxaemia of pregnancy NOT_TRANSLATED +HP:0100604 Lip tumor NOT_TRANSLATED +HP:0100604 Lip tumour NOT_TRANSLATED +HP:0100604 Neoplasia of the lip NOT_TRANSLATED +HP:0100604 Tumor of the lip NOT_TRANSLATED +HP:0100604 Tumour of the lip NOT_TRANSLATED +HP:0100606 Respiratory system tumor NOT_TRANSLATED +HP:0100606 Respiratory system tumour NOT_TRANSLATED +HP:0100607 Painful menstruation NOT_TRANSLATED +HP:0100608 Abnormal uterus bleeding NOT_TRANSLATED +HP:0100608 Intermenstrual bleeding NOT_TRANSLATED +HP:0100608 Menstrual spotting NOT_TRANSLATED +HP:0100610 High blood phenylalanine level in mother NOT_TRANSLATED +HP:0100611 Glomerulocystic kidney disease NOT_TRANSLATED +HP:0100612 Odontogenic tumor NOT_TRANSLATED +HP:0100612 Odontogenic tumour NOT_TRANSLATED +HP:0100614 Muscle inflammation NOT_TRANSLATED +HP:0100615 Neoplasm of the ovaries NOT_TRANSLATED +HP:0100615 Neoplasm of the ovary NOT_TRANSLATED +HP:0100615 Ovarian cancer NOT_TRANSLATED +HP:0100615 Ovarian neoplasia NOT_TRANSLATED +HP:0100615 Ovarian tumor NOT_TRANSLATED +HP:0100615 Ovarian tumour NOT_TRANSLATED +HP:0100619 Sertoli cell neoplasia NOT_TRANSLATED +HP:0100622 Maternal seizures NOT_TRANSLATED +HP:0100623 Abnormality of corpus cavernosum NOT_TRANSLATED +HP:0100625 Wide rib cage NOT_TRANSLATED +HP:0100625 Wide thorax NOT_TRANSLATED +HP:0100626 Chronic liver failure NOT_TRANSLATED +HP:0100627 Displacement of the external urethral orifice NOT_TRANSLATED +HP:0100627 Displacement of the male external urethral orifice NOT_TRANSLATED +HP:0100628 Esophageal pouch NOT_TRANSLATED +HP:0100630 Nasopharyngeal neoplasm NOT_TRANSLATED +HP:0100630 Neoplasm of the nasopharynx NOT_TRANSLATED +HP:0100630 Tumor of the nasopharynx NOT_TRANSLATED +HP:0100630 Tumour of the nasopharynx NOT_TRANSLATED +HP:0100631 Adrenal neoplasia NOT_TRANSLATED +HP:0100632 Cystic lung lesion NOT_TRANSLATED +HP:0100633 Inflammation of the esophagus NOT_TRANSLATED +HP:0100633 Inflammation of the oesophagus NOT_TRANSLATED +HP:0100633 Oesophagitis NOT_TRANSLATED +HP:0100634 Neuroendocrine neoplasia NOT_TRANSLATED +HP:0100638 Neoplasia of the pharynx NOT_TRANSLATED +HP:0100638 Pharyngeal neoplasm NOT_TRANSLATED +HP:0100638 Tumor of the pharynx NOT_TRANSLATED +HP:0100638 Tumour of the pharynx NOT_TRANSLATED +HP:0100639 Abnormal erection NOT_TRANSLATED +HP:0100639 Erectile abnormalities NOT_TRANSLATED +HP:0100641 Cortical adrenal neoplasia NOT_TRANSLATED +HP:0100642 Medullar adrenal neoplasia NOT_TRANSLATED +HP:0100643 Abnormality of nail colour NOT_TRANSLATED +HP:0100643 Nail dyschromia NOT_TRANSLATED +HP:0100645 Bladder hernia NOT_TRANSLATED +HP:0100645 Bladder prolapse NOT_TRANSLATED +HP:0100645 Dropped bladder NOT_TRANSLATED +HP:0100645 Prolapsed bladder NOT_TRANSLATED +HP:0100646 Thyroid gland inflammation NOT_TRANSLATED +HP:0100647 Morbus Basedow NOT_TRANSLATED +HP:0100649 Lesion of oral cavity NOT_TRANSLATED +HP:0100649 Mouth neoplasm NOT_TRANSLATED +HP:0100649 Mouth tumor NOT_TRANSLATED +HP:0100649 Neoplasm of the mouth NOT_TRANSLATED +HP:0100649 Tumor of oral cavity NOT_TRANSLATED +HP:0100649 Tumour of oral cavity NOT_TRANSLATED +HP:0100650 Vaginal neoplasia NOT_TRANSLATED +HP:0100650 Vaginal tumor NOT_TRANSLATED +HP:0100650 Vaginal tumour NOT_TRANSLATED +HP:0100651 Diabetes mellitus Type I NOT_TRANSLATED +HP:0100651 Insulin-dependent diabetes mellitus NOT_TRANSLATED +HP:0100651 Juvenile diabetes mellitus NOT_TRANSLATED +HP:0100651 Type 1 diabetes NOT_TRANSLATED +HP:0100651 Type I diabetes NOT_TRANSLATED +HP:0100654 Retrobulbar neuritis NOT_TRANSLATED +HP:0100656 Thoracoabdominal schisis NOT_TRANSLATED +HP:0100657 Celosomia NOT_TRANSLATED +HP:0100657 Kelosomia NOT_TRANSLATED +HP:0100658 Bacterial infection of skin NOT_TRANSLATED +HP:0100658 Skin infection NOT_TRANSLATED +HP:0100658 Skin infections NOT_TRANSLATED +HP:0100659 Abnormality of the cerebral blood vessels NOT_TRANSLATED +HP:0100659 Abnormality of the cerebral vasculature NOT_TRANSLATED +HP:0100660 Disorder of involuntary muscle movements NOT_TRANSLATED +HP:0100660 Dyskinesias NOT_TRANSLATED +HP:0100660 Dyskinesis NOT_TRANSLATED +HP:0100661 Tic douloureux NOT_TRANSLATED +HP:0100662 Cartilage inflammation NOT_TRANSLATED +HP:0100665 Angioneurotic oedema NOT_TRANSLATED +HP:0100665 Angiooedema NOT_TRANSLATED +HP:0100665 Quincke edema NOT_TRANSLATED +HP:0100665 Quincke oedema NOT_TRANSLATED +HP:0100668 Bowel duplication NOT_TRANSLATED +HP:0100668 Gut duplication NOT_TRANSLATED +HP:0100669 Abnormal color of the oral mucosa NOT_TRANSLATED +HP:0100669 Abnormal colour of the oral mucosa NOT_TRANSLATED +HP:0100669 Abnormal pigmentation of oral cavity NOT_TRANSLATED +HP:0100669 Abnormal pigmentation of oral mucous membrane NOT_TRANSLATED +HP:0100669 Abnormal pigmentation of the oral mucosa/gingivae NOT_TRANSLATED +HP:0100670 Coarse trabeculation at metaphyses NOT_TRANSLATED +HP:0100670 Rough bone trabeculation NOT_TRANSLATED +HP:0100670 Rough trabeculation of bone NOT_TRANSLATED +HP:0100671 Abnormal shape of spongy bone NOT_TRANSLATED +HP:0100671 Abnormality of bone trabeculation NOT_TRANSLATED +HP:0100678 Wrinkled skin NOT_TRANSLATED +HP:0100679 Tight skin NOT_TRANSLATED +HP:0100684 Cancer of salivary gland NOT_TRANSLATED +HP:0100684 Salivary gland neoplasia NOT_TRANSLATED +HP:0100684 Tumor of salivary gland NOT_TRANSLATED +HP:0100684 Tumour of salivary gland NOT_TRANSLATED +HP:0100685 Abnormal Sharpey fibre morphology NOT_TRANSLATED +HP:0100685 Abnormality of Sharpey fibers NOT_TRANSLATED +HP:0100685 Abnormality of Sharpey fibres NOT_TRANSLATED +HP:0100685 Enthesis abnormality NOT_TRANSLATED +HP:0100686 Inflammation of sharpey fibers NOT_TRANSLATED +HP:0100686 Inflammation of sharpey fibres NOT_TRANSLATED +HP:0100689 Thin cornea NOT_TRANSLATED +HP:0100692 Steep corneal curvature NOT_TRANSLATED +HP:0100697 Malignant peripheral nerve sheath tumor NOT_TRANSLATED +HP:0100697 Malignant peripheral nerve sheath tumour NOT_TRANSLATED +HP:0100697 Malignant schwannoma NOT_TRANSLATED +HP:0100697 Neurosarcoma NOT_TRANSLATED +HP:0100699 Scar tissue NOT_TRANSLATED +HP:0100700 Abnormality of the arachnoid mater NOT_TRANSLATED +HP:0100700 Abnormality of the arachnoidea NOT_TRANSLATED +HP:0100701 Abnormality of the pia mater NOT_TRANSLATED +HP:0100702 Arachnoid cysts NOT_TRANSLATED +HP:0100702 Fluid-filled sac located in membrane surrounding brain or spinal cord NOT_TRANSLATED +HP:0100704 CVI NOT_TRANSLATED +HP:0100704 Cortical blindness NOT_TRANSLATED +HP:0100704 Cortical visual impairment NOT_TRANSLATED +HP:0100704 Cortical/cerebral visual impairment NOT_TRANSLATED +HP:0100705 Abnormality of the glial cells NOT_TRANSLATED +HP:0100706 Abnormality of the oligodendroglia NOT_TRANSLATED +HP:0100707 Abnormality of the astrocytes NOT_TRANSLATED +HP:0100708 Abnormality of the microglia NOT_TRANSLATED +HP:0100710 Impulsive NOT_TRANSLATED +HP:0100711 Abnormality of the thoracic spine NOT_TRANSLATED +HP:0100712 Abnormality of the lumbar spine NOT_TRANSLATED +HP:0100716 Autoagression NOT_TRANSLATED +HP:0100716 Self injury NOT_TRANSLATED +HP:0100716 Self-harm NOT_TRANSLATED +HP:0100716 Self-injurious behaviors NOT_TRANSLATED +HP:0100716 Self-injurious behaviour NOT_TRANSLATED +HP:0100716 Self-injurious behaviours NOT_TRANSLATED +HP:0100717 Abnormality of the cementum NOT_TRANSLATED +HP:0100720 Underdeveloped ear cartilage NOT_TRANSLATED +HP:0100721 Swollen lymph nodes in center of chest NOT_TRANSLATED +HP:0100721 Swollen lymph nodes in centre of chest NOT_TRANSLATED +HP:0100723 GI stroma tumor NOT_TRANSLATED +HP:0100723 GI stroma tumour NOT_TRANSLATED +HP:0100723 GIST NOT_TRANSLATED +HP:0100723 Gastrointestinal stroma tumour NOT_TRANSLATED +HP:0100723 Gastrointestinal stromal tumor NOT_TRANSLATED +HP:0100723 Gastrointestinal stromal tumors NOT_TRANSLATED +HP:0100723 Gastrointestinal stromal tumour NOT_TRANSLATED +HP:0100723 Gastrointestinal stromal tumours NOT_TRANSLATED +HP:0100724 Blood hyperviscosity NOT_TRANSLATED +HP:0100724 Thrombophilia NOT_TRANSLATED +HP:0100729 Big face NOT_TRANSLATED +HP:0100729 Large facies NOT_TRANSLATED +HP:0100731 Lateral facial cleft NOT_TRANSLATED +HP:0100733 Parathyroid neoplasia NOT_TRANSLATED +HP:0100734 Abnormal shape of the end part of the vertebra bone NOT_TRANSLATED +HP:0100734 Abnormality of the vertebral epiphyses NOT_TRANSLATED +HP:0100736 Abnormality of the muscular palate NOT_TRANSLATED +HP:0100736 Abnormality of the soft palate NOT_TRANSLATED +HP:0100736 Abnormality of the velum NOT_TRANSLATED +HP:0100736 Abnormality of the velum palatinum NOT_TRANSLATED +HP:0100737 Abnormality of the hard palate NOT_TRANSLATED +HP:0100737 Abnormality of the secondary palate NOT_TRANSLATED +HP:0100738 Abnormal eating behaviour NOT_TRANSLATED +HP:0100739 Binge and purge NOT_TRANSLATED +HP:0100742 Blood vessel tumor NOT_TRANSLATED +HP:0100742 Blood vessel tumour NOT_TRANSLATED +HP:0100743 Rectal tumor NOT_TRANSLATED +HP:0100743 Rectal tumour NOT_TRANSLATED +HP:0100746 Macrodactyly of hands NOT_TRANSLATED +HP:0100747 Foot macrodactyly NOT_TRANSLATED +HP:0100748 Muscular oedema NOT_TRANSLATED +HP:0100749 Chest discomfort NOT_TRANSLATED +HP:0100749 Thoracic pain NOT_TRANSLATED +HP:0100750 Partial or complete collapse of part or entire lung NOT_TRANSLATED +HP:0100750 Pulmonary atelectasis NOT_TRANSLATED +HP:0100751 Esophageal tumor NOT_TRANSLATED +HP:0100751 Esophageal tumour NOT_TRANSLATED +HP:0100752 Anomalous liver lobulation NOT_TRANSLATED +HP:0100752 Hepatic anomalous lobulation NOT_TRANSLATED +HP:0100752 Liver lobation abnormal NOT_TRANSLATED +HP:0100754 Manic NOT_TRANSLATED +HP:0100755 Abnormal spit NOT_TRANSLATED +HP:0100758 Death of body tissue due to lack of blood flow or infection NOT_TRANSLATED +HP:0100759 Clubbed fingers NOT_TRANSLATED +HP:0100759 Clubbing (hands) NOT_TRANSLATED +HP:0100759 Finger clubbing NOT_TRANSLATED +HP:0100760 Clubbed toes NOT_TRANSLATED +HP:0100762 Haemobilia NOT_TRANSLATED +HP:0100763 Lymphatic disease NOT_TRANSLATED +HP:0100766 Abnormality of the lymphatic vessels NOT_TRANSLATED +HP:0100767 Abnormality of the placenta NOT_TRANSLATED +HP:0100767 Placental issue NOT_TRANSLATED +HP:0100770 Stomach churning NOT_TRANSLATED +HP:0100771 Intestinal hypoperistalsis NOT_TRANSLATED +HP:0100774 Bone Hypertrophy NOT_TRANSLATED +HP:0100774 Bone overgrowth NOT_TRANSLATED +HP:0100776 Pharyngitis, recurrent NOT_TRANSLATED +HP:0100776 Recurrent sore throat NOT_TRANSLATED +HP:0100777 Formation of new noncancerous bone on top of existing bone NOT_TRANSLATED +HP:0100778 Cryoprecipitable immune complexes NOT_TRANSLATED +HP:0100781 Abnormality of the sacroiliac joint NOT_TRANSLATED +HP:0100783 Absent breast NOT_TRANSLATED +HP:0100783 Congenital absence of breast NOT_TRANSLATED +HP:0100783 Mammary gland aplasia NOT_TRANSLATED +HP:0100785 Difficulty staying or falling asleep NOT_TRANSLATED +HP:0100785 Fragmented sleep NOT_TRANSLATED +HP:0100786 Excessive sleepiness NOT_TRANSLATED +HP:0100788 Adhesion of upper and lower lips NOT_TRANSLATED +HP:0100788 Fusion of upper and lower lips NOT_TRANSLATED +HP:0100789 Maxillary torus NOT_TRANSLATED +HP:0100789 Palatal tori NOT_TRANSLATED +HP:0100789 Palatal torus NOT_TRANSLATED +HP:0100789 Palate exostoses NOT_TRANSLATED +HP:0100789 Prominent midpalatal ridge NOT_TRANSLATED +HP:0100790 Hernias NOT_TRANSLATED +HP:0100792 Nikolsky's sign NOT_TRANSLATED +HP:0100796 Inflammation of testicles NOT_TRANSLATED +HP:0100797 Abnormal toenail development NOT_TRANSLATED +HP:0100797 Dysplastic toenails NOT_TRANSLATED +HP:0100798 Abnormal fingernail development NOT_TRANSLATED +HP:0100798 Dysplastic fingernails NOT_TRANSLATED +HP:0100799 Middle ear tumor NOT_TRANSLATED +HP:0100799 Middle ear tumour NOT_TRANSLATED +HP:0100799 Neoplasia of the middle ear NOT_TRANSLATED +HP:0100800 Absent/small pancreas NOT_TRANSLATED +HP:0100800 Absent/underdeveloped pancreas NOT_TRANSLATED +HP:0100801 Absent pancreas NOT_TRANSLATED +HP:0100802 Abnormal stomach location NOT_TRANSLATED +HP:0100802 Gastric ectopia NOT_TRANSLATED +HP:0100802 Gastric malposition NOT_TRANSLATED +HP:0100804 Koenen tumor NOT_TRANSLATED +HP:0100804 Koenen tumour NOT_TRANSLATED +HP:0100804 Koenen's tumor NOT_TRANSLATED +HP:0100804 Koenen's tumour NOT_TRANSLATED +HP:0100804 Parungual fibromas NOT_TRANSLATED +HP:0100804 Periungual fibroma NOT_TRANSLATED +HP:0100806 Infection in blood stream NOT_TRANSLATED +HP:0100808 Stomach diverticulum NOT_TRANSLATED +HP:0100809 Allodynia of scalp NOT_TRANSLATED +HP:0100809 Scalp hypersensitivity NOT_TRANSLATED +HP:0100809 Scalp pain NOT_TRANSLATED +HP:0100810 Elfin ear NOT_TRANSLATED +HP:0100810 Pointed ear NOT_TRANSLATED +HP:0100810 Spock ear NOT_TRANSLATED +HP:0100810 Spock's ear NOT_TRANSLATED +HP:0100810 Vulcan ear NOT_TRANSLATED +HP:0100811 Absent/small colon NOT_TRANSLATED +HP:0100811 Absent/underdeveloped colon NOT_TRANSLATED +HP:0100812 Bad breath NOT_TRANSLATED +HP:0100812 Foetor ex ore NOT_TRANSLATED +HP:0100813 Spermatic cord torsion NOT_TRANSLATED +HP:0100814 Congenital dermal melanocytosis NOT_TRANSLATED +HP:0100814 Mongolian spot NOT_TRANSLATED +HP:0100816 Darkening of skin of the lips NOT_TRANSLATED +HP:0100816 Hyperpigmentation of lip vermillion NOT_TRANSLATED +HP:0100816 Increased pigmentation on the lips NOT_TRANSLATED +HP:0100817 Hypertension due to renal artery hyperplasia NOT_TRANSLATED +HP:0100818 Long rib cage NOT_TRANSLATED +HP:0100820 Diseased glomeruli NOT_TRANSLATED +HP:0100825 Inflammation of the lips NOT_TRANSLATED +HP:0100825 Red and sore lips NOT_TRANSLATED +HP:0100826 Nail tumor NOT_TRANSLATED +HP:0100826 Nail tumour NOT_TRANSLATED +HP:0100827 High lymphocyte count NOT_TRANSLATED +HP:0100828 Increase in T cell count NOT_TRANSLATED +HP:0100828 Increase in T cell number NOT_TRANSLATED +HP:0100829 Galactorrhoea NOT_TRANSLATED +HP:0100829 Spontaneous milk flow from breast NOT_TRANSLATED +HP:0100832 Eye floaters NOT_TRANSLATED +HP:0100832 Flitting flies NOT_TRANSLATED +HP:0100832 Mouches volantes NOT_TRANSLATED +HP:0100832 Myodeopsia NOT_TRANSLATED +HP:0100832 Myodesopsia NOT_TRANSLATED +HP:0100832 Spots in front of eyes NOT_TRANSLATED +HP:0100832 Vitreous condensations NOT_TRANSLATED +HP:0100832 Vitreous debris NOT_TRANSLATED +HP:0100832 Vitreous opacities NOT_TRANSLATED +HP:0100832 Vitreous veils NOT_TRANSLATED +HP:0100833 Small intestine tumor NOT_TRANSLATED +HP:0100833 Small intestine tumour NOT_TRANSLATED +HP:0100834 Large intestine tumor NOT_TRANSLATED +HP:0100834 Large intestine tumour NOT_TRANSLATED +HP:0100835 Benign neoplasm of the CNS NOT_TRANSLATED +HP:0100836 Malignant neoplasm of the CNS NOT_TRANSLATED +HP:0100837 Vermiculata atrophoderma NOT_TRANSLATED +HP:0100839 Failed liver development NOT_TRANSLATED +HP:0100839 Liver agenesis NOT_TRANSLATED +HP:0100840 Absence of eyebrow NOT_TRANSLATED +HP:0100840 Agenesis of eyebrow NOT_TRANSLATED +HP:0100840 Hypotrophic eyebrow NOT_TRANSLATED +HP:0100840 Lack of eyebrow NOT_TRANSLATED +HP:0100840 Missing eyebrow NOT_TRANSLATED +HP:0100840 Sparse or absent eyebrows NOT_TRANSLATED +HP:0100840 Sparse to absent eyebrows NOT_TRANSLATED +HP:0100840 Sparse/absent eyebrows NOT_TRANSLATED +HP:0100842 De Morsier syndrome NOT_TRANSLATED +HP:0100845 Anaphylaxis NOT_TRANSLATED +HP:0100847 Palmoplantar pustules NOT_TRANSLATED +HP:0100847 Pustulosis of palms and soles NOT_TRANSLATED +HP:0100847 Pustulosis palmaris et plantaris NOT_TRANSLATED +HP:0100848 Neoplasia of the male external genitalia NOT_TRANSLATED +HP:0100849 Neoplasia of the scrotum NOT_TRANSLATED +HP:0100849 Scrotum tumor NOT_TRANSLATED +HP:0100849 Scrotum tumour NOT_TRANSLATED +HP:0100850 Neoplasia of the penis NOT_TRANSLATED +HP:0100850 Penis tumor NOT_TRANSLATED +HP:0100850 Penis tumour NOT_TRANSLATED +HP:0100851 Abnormal emotion/affect behaviour NOT_TRANSLATED +HP:0100852 Abnormal fear/anxiety-related behaviour NOT_TRANSLATED +HP:0100853 Hypoplastic areolae NOT_TRANSLATED +HP:0100854 Absent musculature NOT_TRANSLATED +HP:0100855 Small triceps NOT_TRANSLATED +HP:0100855 Underdeveloped triceps NOT_TRANSLATED +HP:0100858 Celiac artery aneurysm NOT_TRANSLATED +HP:0100858 Coeliac artery aneurysm NOT_TRANSLATED +HP:0100858 Dilatation of coeliac artery NOT_TRANSLATED +HP:0100859 Superior mesenteric artery aneurysm NOT_TRANSLATED +HP:0100860 Inferior mesenteric artery aneurysm NOT_TRANSLATED +HP:0100861 Vertebral body sclerosis NOT_TRANSLATED +HP:0100862 Absent femoral head NOT_TRANSLATED +HP:0100863 Absent neck of thighbone NOT_TRANSLATED +HP:0100864 Hypoplasia of the femoral neck NOT_TRANSLATED +HP:0100864 Hypoplastic femoral neck NOT_TRANSLATED +HP:0100864 Short femoral necks NOT_TRANSLATED +HP:0100864 Short neck of thighbone NOT_TRANSLATED +HP:0100866 Short pelvis bones NOT_TRANSLATED +HP:0100867 Duodenal stenosis/atresia NOT_TRANSLATED +HP:0100869 Telangiectases of palms and soles NOT_TRANSLATED +HP:0100869 Teleangiectases of palms NOT_TRANSLATED +HP:0100870 Plantar teleangiectasia NOT_TRANSLATED +HP:0100870 Telangiectases of soles NOT_TRANSLATED +HP:0100870 Teleangiectases of soles NOT_TRANSLATED +HP:0100871 Abnormality of the palm NOT_TRANSLATED +HP:0100872 Minor feet anomalies NOT_TRANSLATED +HP:0100874 Increased follicular density NOT_TRANSLATED +HP:0100874 Increased hair density NOT_TRANSLATED +HP:0100875 Hemiglossal hyperplasia NOT_TRANSLATED +HP:0100875 Hemiglossal hypertrophy NOT_TRANSLATED +HP:0100875 Hyperplasia of half of the tongue NOT_TRANSLATED +HP:0100875 Hypertrophy of half of the tongue NOT_TRANSLATED +HP:0100875 Increased size of half of the tongue NOT_TRANSLATED +HP:0100875 Large half of tongue NOT_TRANSLATED +HP:0100876 Crease in skin under the eye NOT_TRANSLATED +HP:0100876 Groove in skin under the eye NOT_TRANSLATED +HP:0100876 Infraorbital crease NOT_TRANSLATED +HP:0100876 Infraorbital creases NOT_TRANSLATED +HP:0100876 Underorbital skin creases NOT_TRANSLATED +HP:0100877 Caliceal diverticulum NOT_TRANSLATED +HP:0100877 Pelvic diverticulum NOT_TRANSLATED +HP:0100877 Renal pelvic diverticulum NOT_TRANSLATED +HP:0100882 Fibrous hamartoma of infancy NOT_TRANSLATED +HP:0100883 Placental hamartoma NOT_TRANSLATED +HP:0100885 Klippel-Trenaunay vein NOT_TRANSLATED +HP:0100885 Lateral marginal vein of Servelle NOT_TRANSLATED +HP:0100885 Vein of Servelle NOT_TRANSLATED +HP:0100886 Abnormality of eyeball location NOT_TRANSLATED +HP:0100886 Abnormality of eyeball position NOT_TRANSLATED +HP:0100886 Abnormality of globe position NOT_TRANSLATED +HP:0100887 Abnormality of eyeball size NOT_TRANSLATED +HP:0100887 Eye size difference NOT_TRANSLATED +HP:0100889 Abnormality of the common bile duct NOT_TRANSLATED +HP:0100890 Choledochal cyst NOT_TRANSLATED +HP:0100891 Bifid xiphisternum NOT_TRANSLATED +HP:0100893 Prominent xiphisternum NOT_TRANSLATED +HP:0100894 Broad xiphisternum NOT_TRANSLATED +HP:0100896 Multiple rectal polyps NOT_TRANSLATED +HP:0100896 Rectal polyps NOT_TRANSLATED +HP:0100899 Increased bone density in the finger bone NOT_TRANSLATED +HP:0100899 Sclerosis of the phalanges of the hand NOT_TRANSLATED +HP:0100900 Increased bone density in the outermost bone of the index finger NOT_TRANSLATED +HP:0100901 Increased bone density in the outermost bone of the middle finger NOT_TRANSLATED +HP:0100902 Increased bone density in the outermost bone of the ring finger NOT_TRANSLATED +HP:0100903 Increased bone density in the outermost little finger bone NOT_TRANSLATED +HP:0100903 Increased bone density in the outermost pinkie finger bone NOT_TRANSLATED +HP:0100903 Increased bone density in the outermost pinky finger bone NOT_TRANSLATED +HP:0100904 Increased bone density in the middle bone of the index finger NOT_TRANSLATED +HP:0100905 Increased bone density in the middle bone of the middle finger NOT_TRANSLATED +HP:0100906 Increased bone density in the middle bone of the ring finger NOT_TRANSLATED +HP:0100907 Increased bone density in the middle bone of the little finger NOT_TRANSLATED +HP:0100907 Increased bone density in the middle bone of the pinkie finger NOT_TRANSLATED +HP:0100907 Increased bone density in the middle bone of the pinky finger NOT_TRANSLATED +HP:0100908 Increased bone density in the innermost bone of the index finger NOT_TRANSLATED +HP:0100909 Increased bone density in innermost bone of the middle finger NOT_TRANSLATED +HP:0100910 Increased bone density in the innermost bone of the ring finger NOT_TRANSLATED +HP:0100911 Increased bone density in innermost little finger bone NOT_TRANSLATED +HP:0100911 Increased bone density in innermost pinkie finger bone NOT_TRANSLATED +HP:0100911 Increased bone density in innermost pinky finger bone NOT_TRANSLATED +HP:0100912 Increased bone density in the outermost bone of the thumb NOT_TRANSLATED +HP:0100913 Increased bone density in the innermost bone of the thumb NOT_TRANSLATED +HP:0100914 Increased bone density in 1st long bone of hand NOT_TRANSLATED +HP:0100915 Increased bone density in outermost finger bone NOT_TRANSLATED +HP:0100915 Sclerosis of the distal phalanges of the hand NOT_TRANSLATED +HP:0100916 Increased bone density in middle finger bone of hand NOT_TRANSLATED +HP:0100916 Sclerosis of the middle phalanges of the hand NOT_TRANSLATED +HP:0100917 Increased bone density in innermost finger bone NOT_TRANSLATED +HP:0100917 Sclerosis of the proximal phalanges of the hand NOT_TRANSLATED +HP:0100918 Increased bone density in 2nd finger bone NOT_TRANSLATED +HP:0100918 Sclerosis of the phalanges of the 2nd finger NOT_TRANSLATED +HP:0100919 Increased bone density in middle finger bone NOT_TRANSLATED +HP:0100919 Sclerosis of the phalanges of the 3rd finger NOT_TRANSLATED +HP:0100920 Increased bone density in ring finger bone NOT_TRANSLATED +HP:0100920 Sclerosis of the phalanges of the 4th finger NOT_TRANSLATED +HP:0100921 Increased bone density in little finger bone NOT_TRANSLATED +HP:0100921 Increased bone density in pinkie finger bone NOT_TRANSLATED +HP:0100921 Increased bone density in pinky finger bone NOT_TRANSLATED +HP:0100921 Sclerosis of the phalanges of the 5th finger NOT_TRANSLATED +HP:0100922 Increased bone density in thumb bone NOT_TRANSLATED +HP:0100922 Sclerosis of the phalanges of the thumb NOT_TRANSLATED +HP:0100923 Increased bone density in collarbone NOT_TRANSLATED +HP:0100923 Osteosclerosis of the clavicle NOT_TRANSLATED +HP:0100923 Osteosclerosis of the clavicles NOT_TRANSLATED +HP:0100924 Increased bone density in the toe bone NOT_TRANSLATED +HP:0100924 Sclerosis of the phalanges of the toes NOT_TRANSLATED +HP:0100925 Increased bone density in foot bone NOT_TRANSLATED +HP:0100925 Sclerosis of bones of the feet NOT_TRANSLATED +HP:0100926 Increased bone density in 2nd toe bone NOT_TRANSLATED +HP:0100926 Sclerosis of the phalanges of the 2nd toe NOT_TRANSLATED +HP:0100927 Increased bone density in 3rd toe bone NOT_TRANSLATED +HP:0100927 Sclerosis of the phalanges of the 3rd toe NOT_TRANSLATED +HP:0100928 Increased bone density in 4th toe bone NOT_TRANSLATED +HP:0100928 Sclerosis of the phalanges of the 4th toe NOT_TRANSLATED +HP:0100929 Increased bone density in little toe bone NOT_TRANSLATED +HP:0100929 Increased bone density in pinkie toe bone NOT_TRANSLATED +HP:0100929 Increased bone density in pinky toe bone NOT_TRANSLATED +HP:0100929 Sclerosis of the phalanges of the 5th toe NOT_TRANSLATED +HP:0100930 Increased bone density in big toe bone NOT_TRANSLATED +HP:0100930 Sclerosis of the phalanges of the hallux NOT_TRANSLATED +HP:0100931 Increased bone density in the innermost bone of the 2nd toe NOT_TRANSLATED +HP:0100932 Increased bone density in the innermost bone of the 3rd toe NOT_TRANSLATED +HP:0100933 Increased bone density in the innermost bone of the 4th toe NOT_TRANSLATED +HP:0100934 Increased bone density in the innermost bone of the little toe NOT_TRANSLATED +HP:0100934 Increased bone density in the innermost bone of the pinkie toe NOT_TRANSLATED +HP:0100934 Increased bone density in the innermost bone of the pinky toe NOT_TRANSLATED +HP:0100935 Increased bone density in the middle bone of the 2nd toe NOT_TRANSLATED +HP:0100936 Increased bone density in the middle bone of the 3rd toe NOT_TRANSLATED +HP:0100937 Increased bone density in the middle bone of the 4th toe NOT_TRANSLATED +HP:0100938 Increased bone density in the middle bone of the little toe NOT_TRANSLATED +HP:0100938 Increased bone density in the middle bone of the pinkie toe NOT_TRANSLATED +HP:0100938 Increased bone density in the middle bone of the pinky toe NOT_TRANSLATED +HP:0100939 Increased bone density in the outermost bone of the 2nd toe NOT_TRANSLATED +HP:0100940 Increased bone density in the outermost bone of the 3rd toe NOT_TRANSLATED +HP:0100941 Increased bone density in the outermost bone of the 4th toe NOT_TRANSLATED +HP:0100942 Increased bone density in the outermost bone of the little toe NOT_TRANSLATED +HP:0100942 Increased bone density in the outermost bone of the pinkie toe NOT_TRANSLATED +HP:0100942 Increased bone density in the outermost bone of the pinky toe NOT_TRANSLATED +HP:0100943 Increased bone density in the innermost bone of the big toe NOT_TRANSLATED +HP:0100944 Increased bone density in the outermost bone of the big toe NOT_TRANSLATED +HP:0100945 Increased bone density in the 1st long bone of foot NOT_TRANSLATED +HP:0100946 Increased bone density in innermost toe bone NOT_TRANSLATED +HP:0100946 Sclerosis of the proximal phalanges of the toes NOT_TRANSLATED +HP:0100947 Increased bone density in middle toe bone NOT_TRANSLATED +HP:0100947 Sclerosis of the middle phalanges of the toes NOT_TRANSLATED +HP:0100948 Increased bone density in the outermost bone of the toes NOT_TRANSLATED +HP:0100948 Sclerosis of the distal phalanges of the toes NOT_TRANSLATED +HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiency NOT_TRANSLATED +HP:0100950 Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency NOT_TRANSLATED +HP:0100950 Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency NOT_TRANSLATED +HP:0100951 Enlarged basal cistern NOT_TRANSLATED +HP:0100951 Enlarged interpeduncular cistern NOT_TRANSLATED +HP:0100952 Enlarged lateral fissure NOT_TRANSLATED +HP:0100952 Enlarged lateral sulcus NOT_TRANSLATED +HP:0100952 Enlarged sylvian fissure NOT_TRANSLATED +HP:0100953 Enlarged great longitudinal fissure NOT_TRANSLATED +HP:0100953 Enlarged longitudinal cerebral fissure NOT_TRANSLATED +HP:0100953 Enlarged longitudinal fissure NOT_TRANSLATED +HP:0100957 Abnormality of the renal medulla NOT_TRANSLATED +HP:0100959 Dense metaphyseal band sign NOT_TRANSLATED +HP:0100959 Dense metaphyseal lines NOT_TRANSLATED +HP:0100959 Lead lines in metaphyses of bones NOT_TRANSLATED +HP:0100959 Transverse metaphyseal bands NOT_TRANSLATED +HP:0100960 Asymmetric lateral ventricles NOT_TRANSLATED +HP:0100960 Asymmetric ventricles NOT_TRANSLATED +HP:0100960 Cerebral lateral ventricular asymmetry NOT_TRANSLATED +HP:0100963 Hyperaesthesia NOT_TRANSLATED +HP:0200000 Dysharmonic skeletal maturation NOT_TRANSLATED +HP:0200003 Splayed end part of bone NOT_TRANSLATED +HP:0200005 Abnormal morphology of the palpebral fissure NOT_TRANSLATED +HP:0200005 Abnormal shape of the opening between the eyelids NOT_TRANSLATED +HP:0200006 Slanting of the opening between the eyelids NOT_TRANSLATED +HP:0200007 Abnormal size of the eyes NOT_TRANSLATED +HP:0200007 Abnormal size of the opening between the eyelids NOT_TRANSLATED +HP:0200008 Gastrointestinal polyps NOT_TRANSLATED +HP:0200008 Growths in inner lining of intestine NOT_TRANSLATED +HP:0200008 Multiple intestinal polyps NOT_TRANSLATED +HP:0200013 Tumor of fatty tissue NOT_TRANSLATED +HP:0200013 Tumour of fatty tissue NOT_TRANSLATED +HP:0200016 Acral keratosis NOT_TRANSLATED +HP:0200017 Agenesis of the cerebral white matter NOT_TRANSLATED +HP:0200017 White matter agenesis NOT_TRANSLATED +HP:0200018 Colorblindness, partial, protan series NOT_TRANSLATED +HP:0200018 Red-weak NOT_TRANSLATED +HP:0200020 Damage to outer layer of the cornea of the eye NOT_TRANSLATED +HP:0200021 Rounded shoulders NOT_TRANSLATED +HP:0200021 Rounded, sloping shoulders NOT_TRANSLATED +HP:0200021 Sloping shoulders NOT_TRANSLATED +HP:0200023 hulseyism NOT_TRANSLATED +HP:0200025 Lower jaw pain NOT_TRANSLATED +HP:0200026 Eye pain NOT_TRANSLATED +HP:0200028 Graves dermopathy NOT_TRANSLATED +HP:0200029 Cutaneous vasculitis NOT_TRANSLATED +HP:0200032 Fleischer's ring NOT_TRANSLATED +HP:0200032 Fleischer-Kayser ring NOT_TRANSLATED +HP:0200032 Fleischer-Struempell ring NOT_TRANSLATED +HP:0200034 Papules NOT_TRANSLATED +HP:0200034 Skin papules NOT_TRANSLATED +HP:0200036 Growth of abnormal tissue on or under the skin NOT_TRANSLATED +HP:0200039 Pimple NOT_TRANSLATED +HP:0200039 Pustula NOT_TRANSLATED +HP:0200039 Pustular lesion NOT_TRANSLATED +HP:0200039 Pustules NOT_TRANSLATED +HP:0200039 Skin pustule NOT_TRANSLATED +HP:0200039 Skin pustules NOT_TRANSLATED +HP:0200040 Epidermal cyst NOT_TRANSLATED +HP:0200040 Epidermal inclusion cyst NOT_TRANSLATED +HP:0200040 Epidermoid cysts NOT_TRANSLATED +HP:0200040 Infundibular cyst NOT_TRANSLATED +HP:0200040 Keratin cyst NOT_TRANSLATED +HP:0200040 Sebaceous cyst NOT_TRANSLATED +HP:0200040 Skin cyst NOT_TRANSLATED +HP:0200042 Open skin sore NOT_TRANSLATED +HP:0200043 Warts NOT_TRANSLATED +HP:0200046 cat-like cry NOT_TRANSLATED +HP:0200046 cri de chat-associated cry NOT_TRANSLATED +HP:0200047 Inflammation of cartilage of pinna NOT_TRANSLATED +HP:0200050 Bracket shaped end part of long bone of hand NOT_TRANSLATED +HP:0200053 Asymmetric leg shortening NOT_TRANSLATED +HP:0200053 Asymmetric lower limb shortness NOT_TRANSLATED +HP:0200055 Disproportionately small hands NOT_TRANSLATED +HP:0200055 Small hands NOT_TRANSLATED +HP:0200056 Macular scarring NOT_TRANSLATED +HP:0200057 Relative afferent pupil defect NOT_TRANSLATED +HP:0200057 Relative afferent pupillary defect NOT_TRANSLATED +HP:0200063 Colorectal polyps NOT_TRANSLATED +HP:0200067 Spontaneous abortion, recurrent NOT_TRANSLATED +HP:0200068 Decreased visual acuity, nonprogressive NOT_TRANSLATED +HP:0200070 Wasting of the outer part of the retina NOT_TRANSLATED +HP:0200072 Quadriplegia, episodic NOT_TRANSLATED +HP:0200084 Giant cell hepatitis on biopsy NOT_TRANSLATED +HP:0200084 Giant cell hepatitis on liver biopsy NOT_TRANSLATED +HP:0200084 Giant cell hepatitis shown on biopsy NOT_TRANSLATED +HP:0200085 Involuntary shaking of limb NOT_TRANSLATED +HP:0200085 Tremor of limbs NOT_TRANSLATED +HP:0200097 Blebs of oral mucosa NOT_TRANSLATED +HP:0200097 Blisters of mouth NOT_TRANSLATED +HP:0200097 Bullae of oral mucosa NOT_TRANSLATED +HP:0200097 Oral blistering NOT_TRANSLATED +HP:0200097 Oral mucosa blisters NOT_TRANSLATED +HP:0200098 Lack of skin coloration NOT_TRANSLATED +HP:0200101 Decreased or absent ankle reflexes NOT_TRANSLATED +HP:0200102 Partial to total absence of eyelashes NOT_TRANSLATED +HP:0200102 Sparse to absent eyelashes NOT_TRANSLATED +HP:0200104 Absent nail of fifth finger NOT_TRANSLATED +HP:0200105 Missing fifth toenail NOT_TRANSLATED +HP:0200109 Respiratory cilia have shortened or absent outer dynein arms NOT_TRANSLATED +HP:0200113 Aphalangy, hands and feet NOT_TRANSLATED +HP:0200118 Malabsorption of cyanocobalamin NOT_TRANSLATED +HP:0200118 Vitamin B12 deficiency caused by intestinal malabsorption NOT_TRANSLATED +HP:0200119 Acute liver inflammation NOT_TRANSLATED +HP:0200120 Hepatitis, chronic active NOT_TRANSLATED +HP:0200122 Atypical or prolonged liver inflammation NOT_TRANSLATED +HP:0200123 Chronic liver inflammation NOT_TRANSLATED +HP:0200124 Hepatitis, chronic, due to cryptosporidium infection NOT_TRANSLATED +HP:0200134 Convulsive encephalopathy NOT_TRANSLATED +HP:0200136 Oral pharyngeal dysphagia NOT_TRANSLATED +HP:0200136 Oropharyngeal dysphagia NOT_TRANSLATED +HP:0200141 Conical microdontia NOT_TRANSLATED +HP:0200141 Small, cone shaped teeth NOT_TRANSLATED +HP:0200141 Small, peg shaped teeth NOT_TRANSLATED +HP:0200141 Small, pointed teeth NOT_TRANSLATED +HP:0200143 Bone marrow biopsy shows megaloblastic erythroid hyperplasia NOT_TRANSLATED +HP:0200146 Cystic medial necrosis of the aorta NOT_TRANSLATED +HP:0200146 MEMA NOT_TRANSLATED +HP:0200148 Abnormal liver function tests during pregnancy, resolves postpartum NOT_TRANSLATED +HP:0200149 CSF lymphocytosis NOT_TRANSLATED +HP:0200150 Increased serum bile acid concentration during pregnancy, resolves NOT_TRANSLATED +HP:0200153 Absence of lateral incisor NOT_TRANSLATED +HP:0200153 Failure of development of lateral incisor NOT_TRANSLATED +HP:0200153 Missing lateral incisor NOT_TRANSLATED +HP:0200154 Absence of lower lateral incisor NOT_TRANSLATED +HP:0200154 Absence of mandibular lateral incisor NOT_TRANSLATED +HP:0200154 Failure of development of mandibular lateral incisor NOT_TRANSLATED +HP:0200154 Missing lower lateral incisor NOT_TRANSLATED +HP:0200154 Missing mandibular lateral incisor NOT_TRANSLATED +HP:0200158 Absence of adult mandibular lateral incisor NOT_TRANSLATED +HP:0200158 Absence of permanent mandibular lateral incisor NOT_TRANSLATED +HP:0200158 Failure of development of permanent mandibular lateral incisor NOT_TRANSLATED +HP:0200158 Missing adult lower lateral incisor NOT_TRANSLATED +HP:0200158 Missing permanent mandibular lateral incisor NOT_TRANSLATED +HP:0200159 Absence of deciduous mandibular lateral incisor NOT_TRANSLATED +HP:0200159 Absence of lower front baby tooth NOT_TRANSLATED +HP:0200159 Absence of primary mandibular lateral incisor NOT_TRANSLATED +HP:0200159 Agenesis of deciduous mandibular lateral incisor NOT_TRANSLATED +HP:0200159 Failure of development of deciduous mandibular lateral incisor NOT_TRANSLATED +HP:0200159 Failure of development of primary mandibular lateral incisor NOT_TRANSLATED +HP:0200159 Missing deciduous mandibular lateral incisor NOT_TRANSLATED +HP:0200159 Missing primary mandibular lateral incisor NOT_TRANSLATED +HP:0200160 Absence of maxillary incisor NOT_TRANSLATED +HP:0200160 Absence of upper front tooth NOT_TRANSLATED +HP:0200160 Failure of development of maxillary incisor NOT_TRANSLATED +HP:0200160 Failure of development of upper incisor NOT_TRANSLATED +HP:0200160 Missing upper front tooth NOT_TRANSLATED +HP:0200160 Missing upper incisor NOT_TRANSLATED +HP:0200161 Absence of lower front tooth NOT_TRANSLATED +HP:0200161 Absence of lower incisor NOT_TRANSLATED +HP:0200161 Absence of mandibular incisor NOT_TRANSLATED +HP:0200161 Agenesis of lower incisor NOT_TRANSLATED +HP:0200161 Failure of development of mandibular incisor NOT_TRANSLATED +HP:0200161 Missing lower front tooth NOT_TRANSLATED +HP:0200161 Missing lower incisor NOT_TRANSLATED +HP:0400000 Increased height of chin NOT_TRANSLATED +HP:0400000 Increased height of menton region NOT_TRANSLATED +HP:0400000 Long chin NOT_TRANSLATED +HP:0400000 Long lower third of face NOT_TRANSLATED +HP:0400000 Vertical excess of chin NOT_TRANSLATED +HP:0400000 Vertical hyperplasia of chin NOT_TRANSLATED +HP:0400001 Chin with vertical furrow NOT_TRANSLATED +HP:0400001 Chin with vertical groove NOT_TRANSLATED +HP:0400001 Chin with vertical sulcus NOT_TRANSLATED +HP:0400001 Chin, vertical crease NOT_TRANSLATED +HP:0400001 Cleft chin NOT_TRANSLATED +HP:0400001 Vertical chin skin cleft NOT_TRANSLATED +HP:0400001 Vertical menton crease NOT_TRANSLATED +HP:0400002 Concha, Extra Fold NOT_TRANSLATED +HP:0400004 Long ears NOT_TRANSLATED +HP:0400005 Short ears NOT_TRANSLATED +HP:0410000 Abnormality of vomer NOT_TRANSLATED +HP:0410000 Abnormality of vomer bone NOT_TRANSLATED +HP:0410000 Defect of vomer NOT_TRANSLATED +HP:0410003 Alveolar cleft NOT_TRANSLATED +HP:0410003 Cleft alveolar process of maxilla NOT_TRANSLATED +HP:0410003 Cleft anterior maxilla NOT_TRANSLATED +HP:0410003 Cleft primary palate NOT_TRANSLATED +HP:0410005 Cleft bony palate NOT_TRANSLATED +HP:0410005 Cleft of hard palate NOT_TRANSLATED +HP:0410006 Ophthalmic artery anomaly NOT_TRANSLATED +HP:0410011 Abnormality of muscles of mastication NOT_TRANSLATED +HP:0410012 Abnormality of the floor of mouth NOT_TRANSLATED +HP:0410012 Abnormality of the mouth floor NOT_TRANSLATED +HP:0410014 Abnormality of ganglion NOT_TRANSLATED +HP:0410015 Abnormality of ganglion of peripheral nervous system NOT_TRANSLATED +HP:0410016 Abnormality of cranial ganglion NOT_TRANSLATED +HP:0410017 Swimmer's ear NOT_TRANSLATED +HP:0410018 Frequent ear infections NOT_TRANSLATED +HP:0410019 Epigastrium pain NOT_TRANSLATED +HP:0410020 Fish odour NOT_TRANSLATED +HP:0410020 Fishy body odor NOT_TRANSLATED +HP:0410020 Fishy body odour NOT_TRANSLATED +HP:0410020 Fishy odor NOT_TRANSLATED +HP:0410020 Fishy odour NOT_TRANSLATED +HP:0410021 Musty odour NOT_TRANSLATED +HP:0410022 Vaginal fish odour NOT_TRANSLATED +HP:0410026 Abnormality of the periodontium NOT_TRANSLATED +HP:0410027 Bone loss around teeth NOT_TRANSLATED +HP:0410028 Recurrent herpes labialis NOT_TRANSLATED +HP:0410030 Cleft of the lip NOT_TRANSLATED +HP:0410035 Abnormal T lymphocyte activation NOT_TRANSLATED +HP:0410035 Abnormal T-cell activation NOT_TRANSLATED +HP:0410035 Abnormal T-lymphocyte activation NOT_TRANSLATED +HP:0410049 Abnormality of radial ray NOT_TRANSLATED +HP:0410049 Deformity of radial ray NOT_TRANSLATED +HP:0410049 Radial ray abnormality NOT_TRANSLATED +HP:0410049 Radial ray anomaly NOT_TRANSLATED +HP:0410049 Radial ray deformity NOT_TRANSLATED +HP:0410050 Decreased level of 1,5-AG in serum NOT_TRANSLATED +HP:0410050 Decreased level of 1,5-anhydro-D-glucitol in serum NOT_TRANSLATED +HP:0410050 Decreased level of 1,5-anhydroglucitol in serum NOT_TRANSLATED +HP:0410053 Increased circulating GABA concentration NOT_TRANSLATED +HP:0410053 Increased level of GABA in serum NOT_TRANSLATED +HP:0410053 Increased level of gamma-aminobutyric acid in serum NOT_TRANSLATED +HP:0410054 Decreased circulating gamma-aminobutyric acid concentration NOT_TRANSLATED +HP:0410054 Decreased level of gamma-aminobutyric acid in serum NOT_TRANSLATED +HP:0410056 Decreased level of erythritol in cerebrospinal fluid NOT_TRANSLATED +HP:0410058 Increased level of D-threitol in cerebrospinal fluid NOT_TRANSLATED +HP:0410063 Increased level of galactonate in RBCs NOT_TRANSLATED +HP:0410063 Increased level of galactonate in erythrocytes NOT_TRANSLATED +HP:0410064 Increased level of galactitol in erythrocytes NOT_TRANSLATED +HP:0410065 Increased level of N-benzoylglycine in blood NOT_TRANSLATED +HP:0410066 Increased level of N-benzoylglycine in urine NOT_TRANSLATED +HP:0410069 Increased level of propane-1,2-diol in blood NOT_TRANSLATED +HP:0410071 Increased level of ribitol in cerebrospinal fluid NOT_TRANSLATED +HP:0410073 Increased level of ribose in cerebrospinal fluid NOT_TRANSLATED +HP:0410075 Increased level of xylitol in cerebrospinal fluid NOT_TRANSLATED +HP:0410132 Elevated urine 5-oxoproline NOT_TRANSLATED +HP:0410132 Increased level of 5-oxo-L-proline in urine NOT_TRANSLATED +HP:0410133 CIU NOT_TRANSLATED +HP:0410133 CSU NOT_TRANSLATED +HP:0410133 Chronic spontaneous urticaria NOT_TRANSLATED +HP:0410147 Eosinophilic gastritis NOT_TRANSLATED +HP:0410149 Drug induced anaphylaxis NOT_TRANSLATED +HP:0410151 Eosinophilic esophagitis NOT_TRANSLATED +HP:0410151 Eosinophilic infiltration of the oesophagus NOT_TRANSLATED +HP:0410152 Eosinophilic micro-abscess formation in the esophagus NOT_TRANSLATED +HP:0410152 Eosinophilic micro-abscess formation in the oesophagus NOT_TRANSLATED +HP:0410152 Eosinophilic microabscess formation in the oesophagus NOT_TRANSLATED +HP:0410153 Increased level of pyrotartaric acid in urine NOT_TRANSLATED +HP:0410154 Increased level of tetradecanoic acid in serum NOT_TRANSLATED +HP:0410156 Increased level of NANA in urine NOT_TRANSLATED +HP:0410156 Increased level of Neu5Ac in urine NOT_TRANSLATED +HP:0410157 Increased level of NANA in fibroblasts NOT_TRANSLATED +HP:0410157 Increased level of Neu5Ac in fibroblasts NOT_TRANSLATED +HP:0410157 Increased level of sialic acid in fibroblasts NOT_TRANSLATED +HP:0410167 Abnormality of the chest musculature NOT_TRANSLATED +HP:0410167 Muscle issues in the chest NOT_TRANSLATED +HP:0410168 Muscle issues in the back NOT_TRANSLATED +HP:0410169 Abnormality of the shoulder musculature NOT_TRANSLATED +HP:0410169 Muscle issues in the shoulder NOT_TRANSLATED +HP:0410170 Atrophy of the hippocampus NOT_TRANSLATED +HP:0410170 Degeneration of the hippocampus NOT_TRANSLATED +HP:0410173 Increased troponin I level in blood NOT_TRANSLATED +HP:0410174 Increased troponin T level in blood NOT_TRANSLATED +HP:0410175 Elevated circulating ketone body concentration NOT_TRANSLATED +HP:0410175 Increased level of ketone bodies in blood NOT_TRANSLATED +HP:0410175 Ketonemia NOT_TRANSLATED +HP:0410176 Abnormal G6PD level NOT_TRANSLATED +HP:0410177 Abnormal G6PD level in blood NOT_TRANSLATED +HP:0410178 Increased G6PD level in blood NOT_TRANSLATED +HP:0410179 Decreased G6PD level in blood NOT_TRANSLATED +HP:0410180 Abnormal G6PD level in dried blood spot NOT_TRANSLATED +HP:0410180 Abnormal glucose-6-phosphate dehydrogenase level in DBS NOT_TRANSLATED +HP:0410181 Increased G6PD level in dried blood spot NOT_TRANSLATED +HP:0410181 Increased glucose-6-phosphate dehydrogenase level in DBS NOT_TRANSLATED +HP:0410182 Decreased G6PD level in dried blood spot NOT_TRANSLATED +HP:0410182 Decreased glucose-6-phosphate dehydrogenase level in DBS NOT_TRANSLATED +HP:0410183 Abnormal G6PD level in leukocytes NOT_TRANSLATED +HP:0410184 Abnormal G6PD level in RBCs NOT_TRANSLATED +HP:0410184 Abnormal G6PD level in red blood cells NOT_TRANSLATED +HP:0410185 Abnormal G6PD level in tissue NOT_TRANSLATED +HP:0410186 Increased G6PD level in tissue NOT_TRANSLATED +HP:0410187 Decreased G6PD level in tissue NOT_TRANSLATED +HP:0410188 Decreased G6PD level in RBCs NOT_TRANSLATED +HP:0410188 Decreased G6PD level in red blood cells NOT_TRANSLATED +HP:0410189 Increased G6PD level in RBCs NOT_TRANSLATED +HP:0410189 Increased G6PD level in red blood cells NOT_TRANSLATED +HP:0410190 Decreased G6PD level in leukocytes NOT_TRANSLATED +HP:0410191 Increased G6PD level in leukocytes NOT_TRANSLATED +HP:0410192 Abnormal UDP-glucose 4-epimerase level NOT_TRANSLATED +HP:0410193 Abnormal UDP-glucose 4-epimerase activity level in plasma NOT_TRANSLATED +HP:0410194 Increased UDP-glucose 4-epimerase level in plasma NOT_TRANSLATED +HP:0410195 Decreased UDP-glucose 4-epimerase level in plasma NOT_TRANSLATED +HP:0410196 Abnormal UDP-glucose 4-epimerase level in RBCs NOT_TRANSLATED +HP:0410196 Abnormal UDP-glucose 4-epimerase level in red blood cells NOT_TRANSLATED +HP:0410197 Increased UDP-glucose 4-epimerase level in RBCs NOT_TRANSLATED +HP:0410197 Increased UDP-glucose 4-epimerase level in red blood cells NOT_TRANSLATED +HP:0410198 Decreased UDP-glucose 4-epimerase level in RBCs NOT_TRANSLATED +HP:0410198 Decreased UDP-glucose 4-epimerase level in red blood cells NOT_TRANSLATED +HP:0410199 Elevated CSF urate concentration NOT_TRANSLATED +HP:0410199 Increased cerebrospinal fluid urate NOT_TRANSLATED +HP:0410205 Abnormal circulating N-nicotinoylglycine level NOT_TRANSLATED +HP:0410205 Abnormal circulating nicotinurate level NOT_TRANSLATED +HP:0410206 Increased circulating N-nicotinoylglycine level NOT_TRANSLATED +HP:0410209 Folate deficiency in cerebrospinal fluid NOT_TRANSLATED +HP:0410212 High cord blood oxygen level NOT_TRANSLATED +HP:0410213 Low cord blood oxygen level NOT_TRANSLATED +HP:0410214 High cord blood carbon dioxide level NOT_TRANSLATED +HP:0410215 Low cord blood carbon dioxide level NOT_TRANSLATED +HP:0410216 Abnormal serum methylfolate Level NOT_TRANSLATED +HP:0410217 Reduced serum methylfolate Level NOT_TRANSLATED +HP:0410218 Disorder of maxillary and mandibular dental arch relationship NOT_TRANSLATED +HP:0410219 Disorder of mandibular and maxillary dental arch relationship NOT_TRANSLATED +HP:0410220 Increased anti-dairy IgE antibody level NOT_TRANSLATED +HP:0410221 Increased level of anti-animal protein IgE antibody NOT_TRANSLATED +HP:0410222 Increased level of anti-seafood IgE antibody NOT_TRANSLATED +HP:0410223 Increased level of anti-dust mite IgE antibody NOT_TRANSLATED +HP:0410224 Increased level of anti-bacteria IgE antibody NOT_TRANSLATED +HP:0410225 Increased level of anti-drug IgE antibody NOT_TRANSLATED +HP:0410227 Increased level of anti-food allergen IgE antibody NOT_TRANSLATED +HP:0410228 Increased level of anti-plant based food allergen IgE antibody NOT_TRANSLATED +HP:0410229 Increased level of anti-gluten IgE antibody NOT_TRANSLATED +HP:0410232 Increased anti-fungal IgE antibody level NOT_TRANSLATED +HP:0410232 Increased anti-fungus IgE antibody level NOT_TRANSLATED +HP:0410240 Abnormal IgA level in blood NOT_TRANSLATED +HP:0410241 Abnormal IgE level in blood NOT_TRANSLATED +HP:0410242 Abnormal IgG level in blood NOT_TRANSLATED +HP:0410243 Abnormal IgM level in blood NOT_TRANSLATED +HP:0410244 Abnormal IgD level in blood NOT_TRANSLATED +HP:0410245 Decreased IgD NOT_TRANSLATED +HP:0410245 Decreased IgD in blood NOT_TRANSLATED +HP:0410245 IgD deficiency NOT_TRANSLATED +HP:0410246 Elevated IgD NOT_TRANSLATED +HP:0410246 Elevated serum IgD NOT_TRANSLATED +HP:0410246 IgD hypergammaglobulinemia NOT_TRANSLATED +HP:0410246 Increased IgD level NOT_TRANSLATED +HP:0410246 Increased levels of IgD NOT_TRANSLATED +HP:0410246 Increased serum IgD NOT_TRANSLATED +HP:0410247 Increased level of anti-dander IgE antibody NOT_TRANSLATED +HP:0410248 Increased anti-house dust IgE antibody level NOT_TRANSLATED +HP:0410248 Increased level of anti-house dust IgE antibody NOT_TRANSLATED +HP:0410249 Increased anti-galactose-alpha-1, 3 galactose IgE antibody level NOT_TRANSLATED +HP:0410253 Myeloid maturation arrest in bone marrow NOT_TRANSLATED +HP:0410259 Hepatic pulmonary fusion NOT_TRANSLATED +HP:0410260 Asymmetrical buttock crease NOT_TRANSLATED +HP:0410260 Asymmetrical gluteal sulcus NOT_TRANSLATED +HP:0410260 Asymmetrical horizontal gluteal crease NOT_TRANSLATED +HP:0410261 Wide space between the 4th and 5th toe NOT_TRANSLATED +HP:0410262 Abnormal lower cranial nerve function NOT_TRANSLATED +HP:0410263 Abnormal brain imaging NOT_TRANSLATED +HP:0410264 Airway hemangioma NOT_TRANSLATED +HP:0410267 Bowel hemangioma NOT_TRANSLATED +HP:0410267 Intestinal hemangiomas NOT_TRANSLATED +HP:0410268 Splenic hemangioma NOT_TRANSLATED +HP:0410271 Throat hemangioma NOT_TRANSLATED +HP:0410275 Lumbar/sacral hemangioma NOT_TRANSLATED +HP:0410276 Midline supraumbilical raphe NOT_TRANSLATED +HP:0410278 Cyst of the pituitary gland NOT_TRANSLATED +HP:0410279 Atrophic pituitary NOT_TRANSLATED +HP:0410279 Pituitary gland atrophy NOT_TRANSLATED +HP:0410280 Onset before adulthood NOT_TRANSLATED +HP:0410280 Paediatric onset NOT_TRANSLATED +HP:0410281 Indigestion NOT_TRANSLATED +HP:0410282 Abnormal circulating amylase level NOT_TRANSLATED +HP:0410283 Positive blood Tylenol test NOT_TRANSLATED +HP:0410283 Positive blood paracetamol test NOT_TRANSLATED +HP:0410286 Positive blood Moban test NOT_TRANSLATED +HP:0410287 Chest hemangioma NOT_TRANSLATED +HP:0410288 Increased circulating amylase level NOT_TRANSLATED +HP:0410289 Decreased circulating amylase level NOT_TRANSLATED +HP:0410292 Abnormal level of natural antibody to blood group agents NOT_TRANSLATED +HP:0410292 Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin) NOT_TRANSLATED +HP:0410293 Absent natural antibody to blood group agents NOT_TRANSLATED +HP:0410293 Complete or near-complete absence of isohemagglutinins NOT_TRANSLATED +HP:0410309 2-aminoadipic aciduria NOT_TRANSLATED +HP:0410310 Abnormality of neutrophil morphology in cerebrospinal fluid NOT_TRANSLATED +HP:0410311 Hyposegmentation of neutrophil nuclei in cerebrospinal fluid NOT_TRANSLATED +HP:0410312 Hypersegmentation of neutrophil nuclei in cerebrospinal fluid NOT_TRANSLATED +HP:0410315 1-Methylhistidinuria NOT_TRANSLATED +HP:0410317 3-Methylhistidinuria NOT_TRANSLATED +HP:0410319 Allergy to alpha-gal NOT_TRANSLATED +HP:0410319 IgE-mediated alpha-gal allergy NOT_TRANSLATED +HP:0410319 Immunoglobulin E-mediated alpha-gal allergy NOT_TRANSLATED +HP:0410320 Allergy to animal proteins NOT_TRANSLATED +HP:0410320 IgE-mediated animal protein allergy NOT_TRANSLATED +HP:0410320 Immunoglobulin E-mediated animal protein allergy NOT_TRANSLATED +HP:0410321 Allergy to animal dander NOT_TRANSLATED +HP:0410321 IgE-mediated animal dander allergy NOT_TRANSLATED +HP:0410321 Immunoglobulin E-mediated animal dander allergy NOT_TRANSLATED +HP:0410322 Allergy to bacteria NOT_TRANSLATED +HP:0410322 IgE-mediated bacteria allergy NOT_TRANSLATED +HP:0410322 Immunoglobulin E-mediated bacteria allergy NOT_TRANSLATED +HP:0410323 Allergy to drugs NOT_TRANSLATED +HP:0410323 IgE-mediated drug allergy NOT_TRANSLATED +HP:0410323 Immunoglobulin E-mediated drug allergy NOT_TRANSLATED +HP:0410324 Allergy to dust mites NOT_TRANSLATED +HP:0410324 IgE-mediated dust mite allergy NOT_TRANSLATED +HP:0410324 Immunoglobulin E-mediated dust mite allergy NOT_TRANSLATED +HP:0410325 Allergy to house dust mites NOT_TRANSLATED +HP:0410325 IgE-mediated house dust mite allergy NOT_TRANSLATED +HP:0410325 Immunoglobulin E-mediated house dust mite allergy NOT_TRANSLATED +HP:0410326 Allergy to feathers NOT_TRANSLATED +HP:0410326 IgE-mediated feather allergy NOT_TRANSLATED +HP:0410326 Immunoglobulin E-mediated feather allergy NOT_TRANSLATED +HP:0410327 Allergy to dairy NOT_TRANSLATED +HP:0410327 IgE-mediated dairy allergy NOT_TRANSLATED +HP:0410327 Immunoglobulin E-mediated dairy allergy NOT_TRANSLATED +HP:0410328 Allergy to eggs NOT_TRANSLATED +HP:0410328 IgE-mediated egg allergy NOT_TRANSLATED +HP:0410328 Immunoglobulin E-mediated egg allergy NOT_TRANSLATED +HP:0410329 Allergy to gluten NOT_TRANSLATED +HP:0410329 IgE-mediated gluten allergy NOT_TRANSLATED +HP:0410329 Immunoglobulin E-mediated gluten allergy NOT_TRANSLATED +HP:0410330 Allergy to meat allergens NOT_TRANSLATED +HP:0410330 IgE-mediated meat allergen allergy NOT_TRANSLATED +HP:0410330 Immunoglobulin E-mediated meat allergen allergy NOT_TRANSLATED +HP:0410330 Meat allergy NOT_TRANSLATED +HP:0410331 Allergy to nut food products NOT_TRANSLATED +HP:0410331 IgE-mediated nut food product allergy NOT_TRANSLATED +HP:0410331 Immunoglobulin E-mediated nut food product allergy NOT_TRANSLATED +HP:0410331 Nut allergy NOT_TRANSLATED +HP:0410332 Allergy to plant based food allergens NOT_TRANSLATED +HP:0410332 IgE-mediated plant based food allergen allergy NOT_TRANSLATED +HP:0410332 Immunoglobulin E-mediated plant based food allergen allergy NOT_TRANSLATED +HP:0410333 Allergy to seafood NOT_TRANSLATED +HP:0410333 IgE-mediated seafood allergy NOT_TRANSLATED +HP:0410333 Immunoglobulin E-mediated seafood allergy NOT_TRANSLATED +HP:0410334 Allergy to fungi NOT_TRANSLATED +HP:0410334 Fungal allergy NOT_TRANSLATED +HP:0410334 Fungus allergy NOT_TRANSLATED +HP:0410334 IgE-mediated fungi allergy NOT_TRANSLATED +HP:0410334 Immunoglobulin E-mediated fungi allergy NOT_TRANSLATED +HP:0410335 Allergy to insects NOT_TRANSLATED +HP:0410335 IgE-mediated insect allergy NOT_TRANSLATED +HP:0410335 Immunoglobulin E-mediated insect allergy NOT_TRANSLATED +HP:0410336 Allergy to venom NOT_TRANSLATED +HP:0410336 IgE-mediated venom allergy NOT_TRANSLATED +HP:0410336 Immunoglobulin E-mediated venom allergy NOT_TRANSLATED +HP:0410337 Allergy to parasites NOT_TRANSLATED +HP:0410337 IgE-mediated parasite allergy NOT_TRANSLATED +HP:0410337 Immunoglobulin E-mediated parasite allergy NOT_TRANSLATED +HP:0410338 Allergy to plant products NOT_TRANSLATED +HP:0410338 IgE-mediated plant product allergy NOT_TRANSLATED +HP:0410338 Immunoglobulin E-mediated plant product allergy NOT_TRANSLATED +HP:0410339 Allergy to insect bites NOT_TRANSLATED +HP:0410339 IgE-mediated insect bite allergy NOT_TRANSLATED +HP:0410339 Immunoglobulin E-mediated insect bite allergy NOT_TRANSLATED +HP:0410340 Focal epithelial hyperplasia of the lining of mouth NOT_TRANSLATED +HP:0410340 Oral mucosa epithelial hyperplasia NOT_TRANSLATED +HP:0410341 Abnormal circulating heparan sulphate level NOT_TRANSLATED +HP:0410341 Abnormality of the concentration of heparan sulfate in the blood NOT_TRANSLATED +HP:0410341 Abnormality of the concentration of heparan sulphate in the blood NOT_TRANSLATED +HP:0410342 Increased blood heparan sulfate concentration NOT_TRANSLATED +HP:0410342 Increased blood heparan sulphate concentration NOT_TRANSLATED +HP:0410342 Increased circulating heparan sulphate level NOT_TRANSLATED +HP:0410343 Decreased blood heparan sulfate concentration NOT_TRANSLATED +HP:0410343 Decreased blood heparan sulphate concentration NOT_TRANSLATED +HP:0410343 Decreased circulating heparan sulphate level NOT_TRANSLATED +HP:0410344 Presence of terminal O-fucose glycans on properdin NOT_TRANSLATED +HP:0410345 Increased polyhexose concentration in urine NOT_TRANSLATED +HP:0410346 Increased concentration of galactosylated oligosaccharides in urine NOT_TRANSLATED +HP:0410347 Increased concentration of high-mannose-type oligosaccharides in urine NOT_TRANSLATED +HP:0410348 Increase concentration of multiantennary sialylated oligosaccharides in urine NOT_TRANSLATED +HP:0410350 Increased concentration of fucosylated oligosaccharides in urine NOT_TRANSLATED +HP:0410351 Abnormal concentration of complex N-glycans on glycoproteins NOT_TRANSLATED +HP:0410352 Increased concentration of complex N-glycans on glycoproteins NOT_TRANSLATED +HP:0410353 Increased truncated complex N-glycans on glycoproteins NOT_TRANSLATED +HP:0410354 Increased concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED +HP:0410355 Decreased concentration of sialylated N-glycans on glycoproteins NOT_TRANSLATED +HP:0410356 Abnormal high-mannose N-glycans on glycoprotein concentration NOT_TRANSLATED +HP:0410357 Increased high-mannose N-glycans on glycoprotein concentration NOT_TRANSLATED +HP:0410358 Decreased high-mannose N-glycans on glycoprotein concentration NOT_TRANSLATED +HP:0410359 Abnormal concentration of T-antigen NOT_TRANSLATED +HP:0410360 Increased T-antigen concentration NOT_TRANSLATED +HP:0410361 Decreased T-antigen concentration NOT_TRANSLATED +HP:0410362 Reduced O-mannosyl glycans on alpha-dystroglycan NOT_TRANSLATED +HP:0410363 Increased sialyl T-antigen concentration NOT_TRANSLATED +HP:0410364 Decreased sialyl T-antigen concentration NOT_TRANSLATED +HP:0410365 Increased disialyl T-antigen concentration NOT_TRANSLATED +HP:0410366 Increased globoside Gb4 concentration NOT_TRANSLATED +HP:0410368 Increased globoside Gb3 concentration NOT_TRANSLATED +HP:0410372 Increased O-GalNac on glycoprotein concentration NOT_TRANSLATED +HP:0410373 Abnormal proportion of CD4+CD45RA+ cells NOT_TRANSLATED +HP:0410373 Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0410375 Elevated proportion of naive CD4 T cells NOT_TRANSLATED +HP:0410375 Increased proportion of CD4+CD45RA+ cells NOT_TRANSLATED +HP:0410375 Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0410376 Elevated proportion of naive CD8 T cells NOT_TRANSLATED +HP:0410376 Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells NOT_TRANSLATED +HP:0410377 Reduced proportion of naive CD8 T cells NOT_TRANSLATED +HP:0410377 Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells NOT_TRANSLATED +HP:0410378 Decreased proportion of CD4+CD45RA+ cells NOT_TRANSLATED +HP:0410378 Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0410378 Reduced proportion of naive CD4 T cells NOT_TRANSLATED +HP:0410388 Decreased proportion of CD4+ central memory cells NOT_TRANSLATED +HP:0410388 Decreased proportion of CD4-positive central memory cells NOT_TRANSLATED +HP:0410388 Decreased proportion of central memory CD4+, alpha-beta T cell NOT_TRANSLATED +HP:0410388 Reduced proportion of CD4+ central memory cells NOT_TRANSLATED +HP:0410393 Elevated proportion central memory CD4-positive, alpha-beta T cells NOT_TRANSLATED +HP:0410393 Elevated proportion of CD4+ central memory cells NOT_TRANSLATED +HP:0410393 Increased proportion of CD4+ central memory cells NOT_TRANSLATED +HP:0410393 Increased proportion of central memory CD4+, alpha-beta T cell NOT_TRANSLATED +HP:0410397 Bronchiolectasia NOT_TRANSLATED +HP:0410399 Increased blood lead level NOT_TRANSLATED +HP:0410400 Absence of sebaceous glands NOT_TRANSLATED +HP:0430000 Abnormal morphology of frontal bone NOT_TRANSLATED +HP:0430000 Abnormality of the bone of the forehead NOT_TRANSLATED +HP:0430000 Abnormality of the frontal bone NOT_TRANSLATED +HP:0430000 Anomaly of the frontal bone NOT_TRANSLATED +HP:0430000 Deformity of the frontal bone NOT_TRANSLATED +HP:0430000 Malformation of the frontal bone NOT_TRANSLATED +HP:0430002 Anomaly of the lacrimal bone NOT_TRANSLATED +HP:0430002 Deformity of the lacrimal bone NOT_TRANSLATED +HP:0430002 Malformation of the lacrimal bone NOT_TRANSLATED +HP:0430003 Abnormality of the palatine bone NOT_TRANSLATED +HP:0430003 Anomaly of the palatine bone NOT_TRANSLATED +HP:0430003 Deformity of the palatine bone NOT_TRANSLATED +HP:0430003 Malformation of the palatine bone NOT_TRANSLATED +HP:0430005 Abnormality of ethmoid bone NOT_TRANSLATED +HP:0430005 Anomaly of the ethmoid bone NOT_TRANSLATED +HP:0430005 Deformity of the ethmoid bone NOT_TRANSLATED +HP:0430005 Malformation of the ethmoid bone NOT_TRANSLATED +HP:0430007 Eyelid adhesion to globe of eye NOT_TRANSLATED +HP:0430007 Eyelid stuck to eyeball NOT_TRANSLATED +HP:0430008 Double eyelid NOT_TRANSLATED +HP:0430008 Extra eyelid NOT_TRANSLATED +HP:0430009 Decreased size of eyelid NOT_TRANSLATED +HP:0430009 Hypoplasia of the eyelid NOT_TRANSLATED +HP:0430009 Hypoplastic eyelid NOT_TRANSLATED +HP:0430009 Short eyelid NOT_TRANSLATED +HP:0430009 Small eyelid NOT_TRANSLATED +HP:0430009 Underdevelopment of eyelid NOT_TRANSLATED +HP:0430010 Abnormally small eyelid NOT_TRANSLATED +HP:0430012 Incomplete calcification of palatine bone NOT_TRANSLATED +HP:0430012 Incomplete formation of palatine bone NOT_TRANSLATED +HP:0430012 Incomplete mineralization of palatine bone NOT_TRANSLATED +HP:0430013 Absence of palatine bone calcification NOT_TRANSLATED +HP:0430013 Absence of palatine bone formation NOT_TRANSLATED +HP:0430013 Absence of palatine bone mineralization NOT_TRANSLATED +HP:0430014 Abnormality of soft palate muscles NOT_TRANSLATED +HP:0430015 Abnormality of muscles of the pharynx NOT_TRANSLATED +HP:0430015 Abnormality of musculature of pharynx NOT_TRANSLATED +HP:0430015 Abnormality of pharyngeal musculature NOT_TRANSLATED +HP:0430015 Abnormality of pharynx musculature NOT_TRANSLATED +HP:0430017 Abnormality of musculus uvulae NOT_TRANSLATED +HP:0430018 Abnormality of muscle of nose NOT_TRANSLATED +HP:0430018 Abnormality of musculature of the nose NOT_TRANSLATED +HP:0430019 Abnormality of musculature of facial expression NOT_TRANSLATED +HP:0430021 Abnormality of the common carotid artery NOT_TRANSLATED +HP:0430022 Abnormality of the sphenoidal sinus NOT_TRANSLATED +HP:0430023 Abnormality of the antrum of Highmore NOT_TRANSLATED +HP:0430023 Abnormality of the maxillary antrum NOT_TRANSLATED +HP:0430023 Abnormality of the upper jaw sinus NOT_TRANSLATED +HP:0430025 Bilateral facial muscle paralysis NOT_TRANSLATED +HP:0430025 Bilateral facial muscle weakness NOT_TRANSLATED +HP:0430025 Bilateral facial paralysis NOT_TRANSLATED +HP:0430025 Paralysis of both sides of the face NOT_TRANSLATED +HP:0430025 Weakness of both sides of the face NOT_TRANSLATED +HP:0430028 Big maxilla NOT_TRANSLATED +HP:0430028 Big upper jaw NOT_TRANSLATED +HP:0430028 Hyperplasia of upper jaw NOT_TRANSLATED +HP:0430028 Hypertrophy of maxilla NOT_TRANSLATED +HP:0430028 Hypertrophy of upper jaw NOT_TRANSLATED +HP:0430028 Increased projection of maxilla NOT_TRANSLATED +HP:0430028 Increased projection of upper jaw NOT_TRANSLATED +HP:0430028 Increased size of maxilla NOT_TRANSLATED +HP:0430028 Increased size of upper jaw NOT_TRANSLATED +HP:0430028 Large maxilla NOT_TRANSLATED +HP:0430028 Large upper jaw NOT_TRANSLATED +HP:0430028 Maxillary excess NOT_TRANSLATED +HP:0430028 Maxillary hyperplasia NOT_TRANSLATED +HP:0430028 Maxillary macrognathia NOT_TRANSLATED +HP:0430028 Maxillary prognathia NOT_TRANSLATED +HP:0430028 Maxillary prominence NOT_TRANSLATED +HP:0430028 Prognathia of the upper jaw NOT_TRANSLATED +HP:0430028 Prominent maxilla NOT_TRANSLATED +HP:0430028 Prominent upper jaw NOT_TRANSLATED +HP:0430028 Upper jaw bone excess NOT_TRANSLATED +HP:0430028 Upper jaw excess NOT_TRANSLATED +HP:0430029 Hyperplasia of the intermaxillary bone NOT_TRANSLATED +HP:0430029 Hyperplasia of the primary palate bone NOT_TRANSLATED +HP:0430029 Increased size of premaxilla NOT_TRANSLATED +HP:0430029 Increased size of the primary palate bone NOT_TRANSLATED +HP:0430029 Large premaxilla NOT_TRANSLATED +HP:0430029 Large primary palate bone NOT_TRANSLATED +HP:0430029 Premaxillary excess NOT_TRANSLATED +HP:0430029 Primary palate bone excess NOT_TRANSLATED +HP:0500001 BO NOT_TRANSLATED +HP:0500001 Body odour NOT_TRANSLATED +HP:0500001 Bromhidrosis NOT_TRANSLATED +HP:0500001 Bromidrosis NOT_TRANSLATED +HP:0500001 Osmidrosis NOT_TRANSLATED +HP:0500005 Rectal pain NOT_TRANSLATED +HP:0500008 Vortex keratopathy NOT_TRANSLATED +HP:0500009 LDD NOT_TRANSLATED +HP:0500009 Lhermitte-Duclos disease NOT_TRANSLATED +HP:0500011 Moon face NOT_TRANSLATED +HP:0500011 Puffy face NOT_TRANSLATED +HP:0500011 Puffy facies NOT_TRANSLATED +HP:0500012 Abnormality of GnRH level NOT_TRANSLATED +HP:0500012 Abnormality of gonadotropin-releasing hormone level NOT_TRANSLATED +HP:0500013 Absence of GnRH pulsatility NOT_TRANSLATED +HP:0500016 Abnormal cardiac magnetic resonance imaging NOT_TRANSLATED +HP:0500016 Abnormal heart MRI NOT_TRANSLATED +HP:0500017 Abnormal cardiac cath NOT_TRANSLATED +HP:0500018 Abnormal cardiac exercise test NOT_TRANSLATED +HP:0500018 Abnormal exercise test NOT_TRANSLATED +HP:0500018 Abnormal treadmill test NOT_TRANSLATED +HP:0500019 Abnormal metabolic cart test NOT_TRANSLATED +HP:0500022 Abnormal serum DHEA NOT_TRANSLATED +HP:0500022 Abnormal serum androstenolone level NOT_TRANSLATED +HP:0500022 Abnormal serum dehydroepiandrosterone level NOT_TRANSLATED +HP:0500023 Absent shoulder muscle NOT_TRANSLATED +HP:0500027 Absence of the colon NOT_TRANSLATED +HP:0500027 Aplasia of the colon NOT_TRANSLATED +HP:0500028 CWPs NOT_TRANSLATED +HP:0500032 Aberrant neuronal branching NOT_TRANSLATED +HP:0500032 Abnormal neuronal branching NOT_TRANSLATED +HP:0500039 Cicatricial conjunctivitis NOT_TRANSLATED +HP:0500039 Cicatrizating conjunctivitis NOT_TRANSLATED +HP:0500039 Conjunctival cicatricial conjunctivitis NOT_TRANSLATED +HP:0500040 Conjunctival lipodermoid NOT_TRANSLATED +HP:0500042 Latent hyperopia NOT_TRANSLATED +HP:0500050 ROP stage 1 NOT_TRANSLATED +HP:0500051 ROP stage 2 NOT_TRANSLATED +HP:0500052 ROP stage 3 NOT_TRANSLATED +HP:0500053 ROP stage 4 NOT_TRANSLATED +HP:0500054 ROP stage 4a NOT_TRANSLATED +HP:0500055 ROP 4b NOT_TRANSLATED +HP:0500056 ROP stage 5 NOT_TRANSLATED +HP:0500057 ROP stage 5a NOT_TRANSLATED +HP:0500058 ROP stage 5b NOT_TRANSLATED +HP:0500059 ROP zone 1 NOT_TRANSLATED +HP:0500060 ROP zone II NOT_TRANSLATED +HP:0500061 ROP zone III NOT_TRANSLATED +HP:0500062 ROP plus NOT_TRANSLATED +HP:0500063 ROP pre-plus NOT_TRANSLATED +HP:0500064 ROP threshold NOT_TRANSLATED +HP:0500065 ROP prethreshold NOT_TRANSLATED +HP:0500086 Optic nerve grey crescent NOT_TRANSLATED +HP:0500086 Temporal gray pigmentary crescent NOT_TRANSLATED +HP:0500086 Temporal grey pigmentary crescent NOT_TRANSLATED +HP:0500090 Peri-ocular capillary hemangioma NOT_TRANSLATED +HP:0500093 IgE-mediated food allergy NOT_TRANSLATED +HP:0500093 Immunoglobulin E-mediated food allergy NOT_TRANSLATED +HP:0500104 Decreased diastolic BP NOT_TRANSLATED +HP:0500104 Reduced diastolic blood pressure NOT_TRANSLATED +HP:0500105 Decreased systolic BP NOT_TRANSLATED +HP:0500105 Reduced systolic blood pressure NOT_TRANSLATED +HP:0500110 Positive urine marijuana test NOT_TRANSLATED +HP:0500110 Postive urine pot test NOT_TRANSLATED +HP:0500132 Low blood valine concentration NOT_TRANSLATED +HP:0500133 Decreased tyrosine in blood NOT_TRANSLATED +HP:0500133 Low blood tyrosine concentration NOT_TRANSLATED +HP:0500134 High blood tryptophan concentration NOT_TRANSLATED +HP:0500134 Increased tryptophan in blood NOT_TRANSLATED +HP:0500135 Decreased tryptophan in blood NOT_TRANSLATED +HP:0500135 Low blood tryptophan concentration NOT_TRANSLATED +HP:0500136 Decreased circulating threonine levels NOT_TRANSLATED +HP:0500136 Decreased threonine blood levels NOT_TRANSLATED +HP:0500136 Low blood threonine concentration NOT_TRANSLATED +HP:0500138 Elevated circulating serine levels NOT_TRANSLATED +HP:0500138 High blood serine levels NOT_TRANSLATED +HP:0500138 Increased serine blood concentration NOT_TRANSLATED +HP:0500139 Decreased blood proline levels NOT_TRANSLATED +HP:0500139 Low blood proline concentration NOT_TRANSLATED +HP:0500140 Decreased hydroxyproline in the blood NOT_TRANSLATED +HP:0500140 Low level of hydroxyproline in the blood NOT_TRANSLATED +HP:0500141 Decreased blood phenylalanine NOT_TRANSLATED +HP:0500141 Low blood phenylalanine NOT_TRANSLATED +HP:0500142 Decreased blood lysine NOT_TRANSLATED +HP:0500142 Low blood lysine levels NOT_TRANSLATED +HP:0500143 Decreased blood concentration of leucine NOT_TRANSLATED +HP:0500143 Low blood leucine levels NOT_TRANSLATED +HP:0500144 Decreased blood isoleucine concentration NOT_TRANSLATED +HP:0500144 Low blood isoleucine levels NOT_TRANSLATED +HP:0500145 Decreased blood histidine concentration NOT_TRANSLATED +HP:0500145 Low blood histidine levels NOT_TRANSLATED +HP:0500147 Decreased blood glutamine concentration NOT_TRANSLATED +HP:0500147 Low blood glutamine level NOT_TRANSLATED +HP:0500148 Abnormality of glutamate metabolism NOT_TRANSLATED +HP:0500149 High blood glutamate levels NOT_TRANSLATED +HP:0500149 Increased blood glutamate concentration NOT_TRANSLATED +HP:0500150 Decreased blood glutamate concentrations NOT_TRANSLATED +HP:0500150 Low blood glutamate levels NOT_TRANSLATED +HP:0500151 High blood cystine levels NOT_TRANSLATED +HP:0500151 Increased blood cystine concentraions NOT_TRANSLATED +HP:0500152 Decreased blood cystine concentration NOT_TRANSLATED +HP:0500152 Low blood cystine levels NOT_TRANSLATED +HP:0500153 High blood arginine levels NOT_TRANSLATED +HP:0500153 Increased blood arginine concentration NOT_TRANSLATED +HP:0500154 Decreased blood alanine concentration NOT_TRANSLATED +HP:0500154 Low blood alanine levels NOT_TRANSLATED +HP:0500155 Abnormality of asparagine metabolism NOT_TRANSLATED +HP:0500156 High blood asaparagine levels NOT_TRANSLATED +HP:0500156 Increased blood asparagine concentration NOT_TRANSLATED +HP:0500157 Decreased blood asparagine concentration NOT_TRANSLATED +HP:0500157 Low blood asparagine levels NOT_TRANSLATED +HP:0500158 Abnormal circulating aspartate concentration NOT_TRANSLATED +HP:0500159 High blood aspartic acid levels NOT_TRANSLATED +HP:0500159 Increased blood aspartic acid NOT_TRANSLATED +HP:0500159 Increased level of circulating aspartic acid NOT_TRANSLATED +HP:0500160 Abnormality of carnosine metabolism NOT_TRANSLATED +HP:0500161 High blood carnosine levels NOT_TRANSLATED +HP:0500161 Increased blood carnosine concenrtation NOT_TRANSLATED +HP:0500162 Decreased blood carnosine concentration NOT_TRANSLATED +HP:0500162 Low blood carnosine levels NOT_TRANSLATED +HP:0500163 Decreased blood ornithine concentrations NOT_TRANSLATED +HP:0500163 Low blood ornithine levels NOT_TRANSLATED +HP:0500164 Abnormal CO2 levels in blood NOT_TRANSLATED +HP:0500165 Abnormal O2 blood concentration NOT_TRANSLATED +HP:0500165 Abnormal blood O2 level NOT_TRANSLATED +HP:0500165 Abnormal blood oxygen levels NOT_TRANSLATED +HP:0500166 Abnormal circulating gastrin level NOT_TRANSLATED +HP:0500167 Elevated gastrin in the blood NOT_TRANSLATED +HP:0500167 Increased blood gastrin NOT_TRANSLATED +HP:0500173 Reflex anoxic seizure NOT_TRANSLATED +HP:0500173 Reflex anoxic seizures NOT_TRANSLATED +HP:0500181 Elevated serum taurine levels NOT_TRANSLATED +HP:0500181 Increased circulating taurine levels in the blood NOT_TRANSLATED +HP:0500182 Decreased circulating taurine levels NOT_TRANSLATED +HP:0500182 Lower blood levels of taurine NOT_TRANSLATED +HP:0500182 Reduced taurine levels in the blood NOT_TRANSLATED +HP:0500184 Abnormal CSF amino acid level NOT_TRANSLATED +HP:0500184 Abnormal amino acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500184 Abnormal cerebrospinal fluid amino acid level NOT_TRANSLATED +HP:0500185 Abnormal branched-chain amino acid levels in cerbrospinal fluid NOT_TRANSLATED +HP:0500186 Abnormal valine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500187 High valine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500188 Low valine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500189 Abnormal leucine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500190 Low leucine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500191 High leucine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500192 Abnormal isoleucine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500193 High levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED +HP:0500194 Low levels of isoleucine in cerebrospinal fluid NOT_TRANSLATED +HP:0500195 Abnormal glutamine family amino acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500196 Abnormal glutamine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500197 High glutamine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500198 Low glutamine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500199 Abnormal glutamic acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500200 High glutamic acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500201 Low glutamic acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500202 Abnormal arginine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500203 High arginine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500204 Low arginine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500205 Abnormal aspartate-family amino acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500206 Abnormal lysine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500207 Low lysine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500208 High lysine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500209 Abnormal methionine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500210 High methionine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500211 Abnormal threonine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500212 High threonine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500213 Low threonine levels in the cerebrospinal fluid NOT_TRANSLATED +HP:0500214 Abnormal aromatic amino acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500215 Abnormal phenylalanine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500216 Abnormal CSF aspartic acid concentration NOT_TRANSLATED +HP:0500216 Abnormal aspartic acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500217 High aspartic acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500217 Increased CSF aspartic acid concentration NOT_TRANSLATED +HP:0500218 Abnormal tryptophan levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500219 Abnormal tyrosine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500220 High tyrosine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500221 Low tyrosine levels in the cerebrospinal fluid NOT_TRANSLATED +HP:0500222 High tryptophan levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500223 High phenylalanine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500224 Low phenylalanine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500225 Abnormal serine-family amino acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500226 Abnormal serine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500227 High serine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500228 Low serine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500229 Abnormal glycine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500230 High glycine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500231 Abnormal pyruvate-family amino acid levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500232 Abnormal alanine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500233 High alanine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500234 Low alanine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500235 Abnormal histidine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500236 High histidine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500237 Low histidine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500238 Abnormal albumin levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500239 High albumin levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500240 Abnormal carnosine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500241 Abnormal homocarnosine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500242 High homocarnosine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500243 Abnormal ornithine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500244 High ornithine levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500245 Abnormal citrulline levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500246 High citrulline levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500247 Abnormal alpha-aminobutyrate levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500248 High alpha-aminobutyrate levels in cerebrospinal fluid NOT_TRANSLATED +HP:0500249 Abnormal ethanolamine levels in the blood NOT_TRANSLATED +HP:0500250 High ethanolamine levels in the blood NOT_TRANSLATED +HP:0500251 Abnormal urine decanedioic acid concentration NOT_TRANSLATED +HP:0500252 Increased urine decanedioic acid concentration NOT_TRANSLATED +HP:0500253 Increased urinary excretion of gamma-aminobutyric acid (GABA) NOT_TRANSLATED +HP:0500254 Abnormal urinary N-hexanoylglycine levels NOT_TRANSLATED +HP:0500255 Elevated urinary N-hexanoylglycine concentration NOT_TRANSLATED +HP:0500256 Abnormal urinary isobutyrylglycine levels NOT_TRANSLATED +HP:0500257 High urinary isobutyrylglycine levels NOT_TRANSLATED +HP:0500258 Abnormal CO2 level in cord blood NOT_TRANSLATED +HP:0500258 Abnormal umbilical cord blood levels of carbon dioxide NOT_TRANSLATED +HP:0500259 Abnormal O2 level in cord blood NOT_TRANSLATED +HP:0500259 Abnormal cord blood oxygen levels NOT_TRANSLATED +HP:0500259 Abnormal oxygen amount in umbilical cord blood NOT_TRANSLATED +HP:0500260 Head trauma triggered symptoms NOT_TRANSLATED +HP:0500261 Anaesthetics trigger episodes NOT_TRANSLATED +HP:0500261 Anaesthetics triggered symptoms NOT_TRANSLATED +HP:0500261 Anesthetics trigger episodes NOT_TRANSLATED +HP:0500261 Anesthetics triggered symptoms NOT_TRANSLATED +HP:0500261 Triggered by anaesthetics NOT_TRANSLATED +HP:0500263 Abnormal proportion of circulating T-helper cells NOT_TRANSLATED +HP:0500264 Elevated helper T cell proportion NOT_TRANSLATED +HP:0500264 Increased proportion T-helper cells NOT_TRANSLATED +HP:0500265 Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated NOT_TRANSLATED +HP:0500266 Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated NOT_TRANSLATED +HP:0500269 Abnormal proportion of gamma-delta T-lymphocytes NOT_TRANSLATED +HP:0500269 Abnormal proportion of gammadelta T cells NOT_TRANSLATED +HP:0500269 Abnormal proprotion of gamma-delta T lymphocytes NOT_TRANSLATED +HP:0500270 Elevated proportion of gamma-delta T cells NOT_TRANSLATED +HP:0500270 Increased proportion of gamma-delta T lymphocytes NOT_TRANSLATED +HP:0500270 Increased proportion of gamma-delta T-cells NOT_TRANSLATED +HP:0500270 Increased proportion of gamma-delta T-lymphocytes NOT_TRANSLATED +HP:0500270 Increased proportion of gammadelta T cells NOT_TRANSLATED +HP:0500271 Decreased proportion of gamma-delta T lymphocytes NOT_TRANSLATED +HP:0500271 Decreased proportion of gamma-delta T-cells NOT_TRANSLATED +HP:0500271 Decreased proportion of gamma-delta T-lymphocytes NOT_TRANSLATED +HP:0500271 Decreased proportion of gammadelta T cells NOT_TRANSLATED +HP:0500271 Reduced proportion of gamma-delta T cells NOT_TRANSLATED +HP:0500272 Abnormal proportion of immature gamma-delta T lymphocytes NOT_TRANSLATED +HP:0500272 Abnormal proportion of immature gamma-delta T-cells NOT_TRANSLATED +HP:0500272 Abnormal proportion of immature gamma-delta T-lymphocytes NOT_TRANSLATED +HP:0500273 Elevated proportion of immature gamma-delta T cells NOT_TRANSLATED +HP:0500273 Increased proportion of immature gamma-delat T lymphocytes NOT_TRANSLATED +HP:0500273 Increased proportion of immature gamma-delta T-cells NOT_TRANSLATED +HP:0500273 Increased proportion of immature gamma-delta T-lymphocytes NOT_TRANSLATED +HP:0500274 Decreased proportion of immature gamma-delta T lymphocytes NOT_TRANSLATED +HP:0500274 Decreased proportion of immature gamma-delta T-cells NOT_TRANSLATED +HP:0500274 Decreased proportion of immature gamma-delta T-lymphocytes NOT_TRANSLATED +HP:0500274 Reduced proportion of immature gamma-delta T cells NOT_TRANSLATED +HP:0550004 Flat wart NOT_TRANSLATED +HP:0550005 Lung disease with systemic sclerosis NOT_TRANSLATED +HP:0550005 Scleroderma lung disease NOT_TRANSLATED +HP:0550005 Scleroderma of lung NOT_TRANSLATED +HP:3000003 Abnormality of mandibular ramus NOT_TRANSLATED +HP:3000013 Abnormality of platysma NOT_TRANSLATED +HP:3000013 Abnormality of the platysma muscle NOT_TRANSLATED +HP:3000019 Abnormality of buccal mucosa NOT_TRANSLATED +HP:3000019 Abnormality of cheek mucosa NOT_TRANSLATED +HP:3000019 Abnormality of inside lining of cheek NOT_TRANSLATED +HP:3000021 Abnormality of buccal fat pad NOT_TRANSLATED +HP:3000024 Abnormality of facial artery NOT_TRANSLATED +HP:3000029 Abnormality of depressor labii inferioris muscle NOT_TRANSLATED +HP:3000030 Abnormality of bones of the orbit of the skull NOT_TRANSLATED +HP:3000030 Abnormality of bony orbit of skull NOT_TRANSLATED +HP:3000030 Abnormality of the bony eye socket NOT_TRANSLATED +HP:3000030 Abnormality of the orbital bones of skull NOT_TRANSLATED +HP:3000033 Abnormality of adenoids NOT_TRANSLATED +HP:3000033 Abnormality of nasopharyngeal adenoids NOT_TRANSLATED +HP:3000033 Abnormality of nasopharyngeal tonsil NOT_TRANSLATED +HP:3000033 Abnormality of pharyngeal tonsil NOT_TRANSLATED +HP:3000034 Abnormality of cartilage of nasal septum NOT_TRANSLATED +HP:3000034 Abnormality of cartilage of septum of nose NOT_TRANSLATED +HP:3000034 Anomaly of cartilage of nasal septum NOT_TRANSLATED +HP:3000034 Deformity of cartilage of nasal septum NOT_TRANSLATED +HP:3000034 Malformation of cartilage of nasal septum NOT_TRANSLATED +HP:3000036 Abnormality of blood vessel of head NOT_TRANSLATED +HP:3000036 Abnormality of head blood vessel NOT_TRANSLATED +HP:3000036 Abnormality of vasculature of head NOT_TRANSLATED +HP:3000037 Abnormality of blood vessel of neck NOT_TRANSLATED +HP:3000037 Abnormality of neck blood vessel NOT_TRANSLATED +HP:3000037 Abnormality of the cervical blood vessels NOT_TRANSLATED +HP:3000037 Abnormality of the cervical vasculature NOT_TRANSLATED +HP:3000037 Abnormality of the vasculature of the neck NOT_TRANSLATED +HP:3000038 Abnormality of cricoid cartilage NOT_TRANSLATED +HP:3000040 Abnormality of ethmoidal air cells NOT_TRANSLATED +HP:3000041 Abnormality of carotid artery NOT_TRANSLATED +HP:3000041 Disorder of carotid artery NOT_TRANSLATED +HP:3000042 Abnormality of jugular vein NOT_TRANSLATED +HP:3000043 Abnormal vein of face NOT_TRANSLATED +HP:3000043 Abnormality of facial vein NOT_TRANSLATED +HP:3000047 Abnormality of glossopharyngeal nerve NOT_TRANSLATED +HP:3000049 Abnormality of greater palatine artery NOT_TRANSLATED +HP:3000050 Abnormality of hard tissues of teeth NOT_TRANSLATED +HP:3000050 Abnormality of odontoid tissue NOT_TRANSLATED +HP:3000050 Abnormality of tooth hard tissue NOT_TRANSLATED +HP:3000051 Abnormality of hyoglossus muscle NOT_TRANSLATED +HP:3000052 Abnormality of hyoid bone NOT_TRANSLATED +HP:3000053 Abnormality of hypopharynx NOT_TRANSLATED +HP:3000053 Abnormality of lower pharynx NOT_TRANSLATED +HP:3000056 Abnormality of the inferior labial artery NOT_TRANSLATED +HP:3000057 Abnormality of the inferior oblique muscle NOT_TRANSLATED +HP:3000059 Abnormality of inferior thyroid vein NOT_TRANSLATED +HP:3000060 Abnormality of infraorbital artery NOT_TRANSLATED +HP:3000061 Abnormality of the infraorbital nerve NOT_TRANSLATED +HP:3000062 Abnormality of internal carotid artery NOT_TRANSLATED +HP:3000064 Abnormality of intrinsic lingual muscle NOT_TRANSLATED +HP:3000065 Abnormality of lacrimal artery NOT_TRANSLATED +HP:3000066 Abnormality of lacrimal sac NOT_TRANSLATED +HP:3000067 Abnormal anterior cricoarytenoid muscle morphology NOT_TRANSLATED +HP:3000067 Abnormality of lateral crico-arytenoid NOT_TRANSLATED +HP:3000067 Abnormality of lateral cricoarytenoid muscle NOT_TRANSLATED +HP:3000074 Abnormality of lingual artery NOT_TRANSLATED +HP:3000075 Abnormality of lingual nerve NOT_TRANSLATED +HP:3000077 Abnormality of mandible condylar process NOT_TRANSLATED +HP:3000078 Abnormality of mandible coronoid process NOT_TRANSLATED +HP:3000079 Abnormality of mandible symphysis NOT_TRANSLATED +HP:4000004 Delayed myocardial gadolinium enhancement NOT_TRANSLATED +HP:4000006 Prolonged myocardial native T1 NOT_TRANSLATED +HP:4000007 Bronchial constriction NOT_TRANSLATED +HP:4000007 Constriction of the bronchi NOT_TRANSLATED +HP:4000021 Anti-laminin 5 antibody positivity NOT_TRANSLATED +HP:4000029 AGA autoantibodies NOT_TRANSLATED +HP:4000034 Infection-ssociated lymphocytopenia NOT_TRANSLATED +HP:4000043 Incomplete fracture NOT_TRANSLATED +HP:4000047 Wedge fracture NOT_TRANSLATED +HP:4000050 Compound fracture NOT_TRANSLATED +HP:4000059 Developmental pulmonary anomaly NOT_TRANSLATED +HP:4000062 Fused third and fourth metacarpals NOT_TRANSLATED +HP:4000062 Middle and ring finger metacarpal synostosis NOT_TRANSLATED +HP:4000062 Synostosis of third and the fourth metacarpal bones NOT_TRANSLATED +HP:4000070 Restricted interests NOT_TRANSLATED +HP:4000076 Hand-taking gestures NOT_TRANSLATED +HP:4000087 Abnormal communicative facial expressions NOT_TRANSLATED +HP:4000087 Abnormal facial expressions NOT_TRANSLATED +HP:4000090 Abnormal communicative gesture use NOT_TRANSLATED +HP:4000090 Abnormal communicative gestures NOT_TRANSLATED +HP:4000090 Abnormal gestures NOT_TRANSLATED +HP:4000092 Failure of normal back-and-forth conversation NOT_TRANSLATED +HP:4000102 Allopurinol exposure NOT_TRANSLATED +HP:4000103 Zinc oral supplementation produces improvement NOT_TRANSLATED +HP:4000104 Dental roots curved NOT_TRANSLATED +HP:4000105 Abnormal four chamber view NOT_TRANSLATED +HP:4000107 Lupus band test positive NOT_TRANSLATED +HP:4000108 Bone marrow: erythroid vacuolization NOT_TRANSLATED +HP:4000109 Electromagnetic field triggers symptoms NOT_TRANSLATED +HP:4000119 Calcium channel blocking drug use NOT_TRANSLATED +HP:4000120 Contact with nickel NOT_TRANSLATED +HP:4000121 Contact with poison ivy, poison oak, or sumac NOT_TRANSLATED +HP:4000122 Breast feeding, exclusive NOT_TRANSLATED +HP:4000124 Foods high in oxalate, high intake NOT_TRANSLATED +HP:4000125 Honey ingestion in recent weeks NOT_TRANSLATED +HP:4000127 Sodium channel blocking drugs aggravate findings NOT_TRANSLATED +HP:4000128 Nitrous oxide abuse NOT_TRANSLATED +HP:4000129 Blood transfusion, recent NOT_TRANSLATED +HP:4000130 Colchicine ameliorates symptoms NOT_TRANSLATED +HP:4000131 Vitamin D reduces manifestations NOT_TRANSLATED +HP:4000132 Phenytoin produces worsening NOT_TRANSLATED +HP:4000133 ACE inhibitors trigger attacks NOT_TRANSLATED +HP:4000139 Fetal cystic abdominal mass NOT_TRANSLATED +HP:4000139 Foetal abdominal cyst NOT_TRANSLATED +HP:4000139 Foetal cystic abdominal mass NOT_TRANSLATED +HP:4000140 Foetal bowel dilatation NOT_TRANSLATED +HP:4000141 Dilated left heart ventricle NOT_TRANSLATED +HP:4000142 Foetal trigonocephaly NOT_TRANSLATED +HP:4000142 Strawberry sign NOT_TRANSLATED +HP:4000142 Strawberry skull NOT_TRANSLATED +HP:4000142 Strawberry-shaped skull NOT_TRANSLATED +HP:4000145 Antecedent viral illness NOT_TRANSLATED +HP:4000149 Necrosis in lymph node NOT_TRANSLATED +HP:4000152 Alternating sides of the body NOT_TRANSLATED +HP:4000153 Cervix squamous papilloma NOT_TRANSLATED +HP:4000154 Hepatic leiomyoma NOT_TRANSLATED +HP:5000001 Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody NOT_TRANSLATED +HP:5000003 Anti-Ca antibody NOT_TRANSLATED +HP:5000003 Anti-RhoGTPase-activating protein 26 antibody NOT_TRANSLATED +HP:5000004 Anti CARPVIII antibody NOT_TRANSLATED +HP:5000004 Anti-carbonic anhydrase-related protein VIII antibody NOT_TRANSLATED +HP:5000005 Anti-Caspr2 antibody NOT_TRANSLATED +HP:5000005 Anti-contactin-associated protein-like 2 antibody NOT_TRANSLATED +HP:5000006 Anti-CV2 antibody NOT_TRANSLATED +HP:5000006 Anti-CV2/collapsin response mediator protein (CRMP)5 antibody NOT_TRANSLATED +HP:5000006 Anti-collapsin response-mediated protein 5 antibody NOT_TRANSLATED +HP:5000007 Anti-dipeptidyl-peptidase-like protein 6 antibody NOT_TRANSLATED +HP:5000008 Anti-fibroblast growth factor receptor 3 antibody NOT_TRANSLATED +HP:5000009 Anti-GABAA R antibody NOT_TRANSLATED +HP:5000009 Anti-gamma amino butyric acid type A receptors antibody NOT_TRANSLATED +HP:5000010 Anti-gamma-aminobutyric acid B receptor antibody NOT_TRANSLATED +HP:5000011 Anti-glutamic acid decarboxylase 65 antibody NOT_TRANSLATED +HP:5000013 Anti-glial fibrillary acidic protein antibody NOT_TRANSLATED +HP:5000014 Anti-glycine receptor antibody NOT_TRANSLATED +HP:5000015 Anti-Homer protein homolog 3 antibody NOT_TRANSLATED +HP:5000016 Anti-ANNA-1 antibody NOT_TRANSLATED +HP:5000016 Anti-Neuronal Nuclear Antibody type-1 antibody NOT_TRANSLATED +HP:5000017 Anti-immunoglobulin-like cell adhesion molecule 5 antibody NOT_TRANSLATED +HP:5000018 Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody NOT_TRANSLATED +HP:5000019 Anti-KLHL11 antibody NOT_TRANSLATED +HP:5000020 Anti-Anti-leucine-rich glioma-inactivated 1 antibody NOT_TRANSLATED +HP:5000022 Anti-Ta antibody NOT_TRANSLATED +HP:5000024 Anti-metabotropic glutamate receptor 1 antibody NOT_TRANSLATED +HP:5000025 Anti-Metabotropic Glutamate Receptor Type 5 antibody NOT_TRANSLATED +HP:5000026 Anti-neurexin-3alpha antibody NOT_TRANSLATED +HP:5000027 Anti-P/Q-type voltage-gated calcium-channel antibody NOT_TRANSLATED +HP:5000028 Anti-Purkinje cell cytoplasmic type-2 antibody NOT_TRANSLATED +HP:5000028 Anti-microtubule-associated protein 1B antibody NOT_TRANSLATED +HP:5000029 Anti-Protein kinase C gamma antibody NOT_TRANSLATED +HP:5000030 Anti-ANNA-2 antibody NOT_TRANSLATED +HP:5000033 Anti-Sry-like high mobility group box (SOX) 1 antibody NOT_TRANSLATED +HP:5000034 Anti-delta/notch-like epidermal growth factor-related receptor antibody NOT_TRANSLATED +HP:5000034 PCA-Tr NOT_TRANSLATED +HP:5000037 Anti-Purkinje cell cytoplasmic antibody 1 NOT_TRANSLATED +HP:5000042 Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody NOT_TRANSLATED +HP:5000043 Anti-dopamine-2 receptors (D2R) antibody NOT_TRANSLATED +HP:5000044 Anti-glutamate kainate receptor subunit 2 antibody NOT_TRANSLATED +HP:5000046 Anti-low-density lipoprotein receptor-related protein 4 antibody NOT_TRANSLATED +HP:5000047 Anti-RyR antibody NOT_TRANSLATED